|
||||||
|
Fusion gene:ELP3_MYO5C (FusionGDB2 ID:HG55140TG55930) |
Fusion Gene Summary for ELP3_MYO5C |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ELP3_MYO5C | Fusion gene ID: hg55140tg55930 | Hgene | Tgene | Gene symbol | ELP3 | MYO5C | Gene ID | 55140 | 55930 |
| Gene name | elongator acetyltransferase complex subunit 3 | myosin VC | |
| Synonyms | KAT9 | - | |
| Cytomap | 8p21.1 | 15q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | elongator complex protein 3elongation protein 3 homologprotein lysine acetyltransferase ELP3tRNA uridine(34) acetyltransferase | unconventional myosin-Vcmyosin 5Cmyosin-Vc | |
| Modification date | 20240403 | 20240305 | |
| UniProtAcc | Q9H9T3 | Q9NQX4 | |
| Ensembl transtripts involved in fusion gene | ENST00000256398, ENST00000380353, ENST00000521015, ENST00000524103, ENST00000537665, ENST00000542181, ENST00000523760, | ||
| Fusion gene scores | * DoF score | * DoF score (Degree of Frequency) = # partners X # break points X # disease types 8 X 11 X 7=616 | * DoF score (Degree of Frequency) = # partners X # break points X # disease types 6 X 11 X 9=594 |
| # samples | 14 | 20 | |
| ** MAII score | ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) log2(14/616*10)=-2.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) log2(20/594*10)=-1.57046293102604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ELP3 [Title/Abstract] AND MYO5C [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ELP3(28016150)-MYO5C(52500840), # samples:2 | ||
| Fusion gene breakpoints across ELP3 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
| Fusion gene breakpoints across MYO5C (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
Top |
Fusion Gene Breakpoints for ELP3_MYO5C |
| RNA-seq based exon junction arranged fusion gene breakpoints from 8 resources (TCGA, CCLE, cBioPortal, GenBank, ChimerDB, ChimerKB, ChildHoodFusions, and GTEx). For the expressed sample information, go to Fusion Gene Sample section. |
| Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ELP3 | chr8 | 28016150 | MYO5C | chr15 | 52500840 |
| ELP3 | chr8 | 28158633 | MYO5C | chr15 | 52208643 |
| DNA-seq based exon junction arranged fusion gene breakpoints from dbVar. For the expressed sample information, go to Fusion Gene Sample section. |
| Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | SV type |
Top |
Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Genes for ELP3_MYO5C |
| To generate these tumorigenic scenario annotations, we implemented a deduction-first, retrieval-later computational framework. The pipeline first applies rule-guided reasoning across ten core mechanistic categories (M1–M10) derived from fusion gene biology to infer candidate mechanisms, tumorigenic scenarios, targeting points, and targeting backgrounds. To ensure empirical accountability, a governed Python workflow retrieves literature candidates via NCBI E-utilities and Europe PMC using tiered searches. Using JSON Schema-constrained LLM evidence judges (GPT-5.6 Luna and Terra), retrieved articles are evaluated for specificity and confidence without de novo PMID generation. This produces two distinct versions: a strict version restricted to high- or medium-confidence fusion-specific evidence, and an extended version incorporating broader gene-, pathway-, and contextual evidence. |
| Constitutively Active Kinases, Catalytic Domain Dysregulation, & Transmembrane Ligand Fusions | Aberrant Chimeric Transcription Factor / Fusion Transcription Factor Activity | Epigenetic Reprogramming / Histone Modifier Dysregulation | Chromatin Remodeling Dysregulation | Condensate-Driven Transcriptional Rewiring / LLP | Promoter / Enhancer Hijacking | Dominant-Negative Antagonism | Cell Cycle / Checkpoint Bypass / RNA Processing Dysregulation | Subcellular Mislocalization / Spatial Dysregulation | Nuclear Body / Sub-organellar Architecture Disruption & Differentiation Blockade |  |  |  |  |  |  |  |  |  |  |
* Strict version: Restricted to high- or medium-confidence fusion-specific evidence.
| Fusion Gene Name | Mechanism Category | Mechanism PubMed | Tumorigenic Scenarios | Tumorigenic Scenario PubMed | Targeting Points | Targeting PubMed | Mechanism Background | Mechanism Background PubMed |
| ELP3-MYO5C | Constitutively Active Kinases, Catalytic Domain Dysregulation, & Transmembrane Ligand Fusions M1 | Elongator complex subunit 3 couples to unconventional myosin Vc motor domain, accelerating intracellular vesicle transport and motility. | Myosin ATPase inhibitors; FAK/Src inhibitors | Invasive epithelial carcinomas |
* Extended version: Includes all strict-level fusion evidence plus broader gene-, pathway-, and low-confidence contextual evidence.
| Fusion Gene Name | Mechanism Category | Mechanism PubMed | Tumorigenic Scenarios | Tumorigenic Scenario PubMed | Targeting Points | Targeting PubMed | Mechanism Background | Mechanism Background PubMed |
| ELP3-MYO5C | Constitutively Active Kinases, Catalytic Domain Dysregulation, & Transmembrane Ligand Fusions M1 | Elongator complex subunit 3 couples to unconventional myosin Vc motor domain, accelerating intracellular vesicle transport and motility. | Myosin ATPase inhibitors; FAK/Src inhibitors | Invasive epithelial carcinomas | Evidence level: Limited indirect gene evidence; Confidence: Low; PMID: 28665450; Title: Predicting miRNA targets for head and neck squamous cell carcinoma using an ensemble method. |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ELP3 | MYO5C |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | ELP3 | GO:0002098 | tRNA wobble uridine modification | 29415125 |
| Hgene | ELP3 | GO:0006357 | regulation of transcription by RNA polymerase II | 11818576 |
Top |
Fusion Genomic Features for ELP3_MYO5C |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of In-frame fusion genes. FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| ELP3 | chr8 | 28016150 | + | MYO5C | chr15 | 52500840 | - | 7.57e-07 | 1.00e+00 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of 5UTR-3CSD fusion genes (N-truncated cases). |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of 5CDS-3UTR fusion genes (C-truncated cases). |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of six genomic regulatory feature tracks across a ±5 kb window centered on the fusion breakpoints. We input the breakpoint sequences into AlphaGenome and obtained predicted genome tracks at single-base-pair resolution for each modality by running a single forward pass over the reference sequence. Specifically, for each breakpoint, AlphaGenome processed and returned predicted track data across diverse modalities, which were then averaged across all tracks within each output type and visualized across the ±5 kb window. The left panel shows the 5'-gene breakpoint ±5 kb area, and the right panel shows the 3'-gene breakpoint area, with tracks grouped by category: chromatin accessibility (DNase-seq, ATAC-seq), active transcription (RNA-seq, CAGE), and chromatin binding (ChIP-Histone, ChIP-TF). |
 |
Top |
Fusion Gene ORF Annotations for ELP3_MYO5C |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| In-frame | ENST00000256398 | ENST00000261839 | ELP3 | chr8 | 28016150 | + | MYO5C | chr15 | 52500840 | - |
| In-frame | ENST00000380353 | ENST00000261839 | ELP3 | chr8 | 28016150 | + | MYO5C | chr15 | 52500840 | - |
| In-frame | ENST00000521015 | ENST00000261839 | ELP3 | chr8 | 28016150 | + | MYO5C | chr15 | 52500840 | - |
| In-frame | ENST00000524103 | ENST00000261839 | ELP3 | chr8 | 28016150 | + | MYO5C | chr15 | 52500840 | - |
| In-frame | ENST00000537665 | ENST00000261839 | ELP3 | chr8 | 28016150 | + | MYO5C | chr15 | 52500840 | - |
| In-frame | ENST00000542181 | ENST00000261839 | ELP3 | chr8 | 28016150 | + | MYO5C | chr15 | 52500840 | - |
| ORFfinder Result Based On The Fusion Transcript Sequences of the In-frame Fusion Genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (peptide) |
| ENST00000256398 | ENST00000261839 | ELP3 | chr8 | 28016150 | MYO5C | chr15 | 52500840 | 1634 | 716 |
| ENST00000380353 | ENST00000261839 | ELP3 | chr8 | 28016150 | MYO5C | chr15 | 52500840 | 1148 | 610 |
| ENST00000521015 | ENST00000261839 | ELP3 | chr8 | 28016150 | MYO5C | chr15 | 52500840 | 1340 | 467 |
| ENST00000524103 | ENST00000261839 | ELP3 | chr8 | 28016150 | MYO5C | chr15 | 52500840 | 1260 | 610 |
| ENST00000537665 | ENST00000261839 | ELP3 | chr8 | 28016150 | MYO5C | chr15 | 52500840 | 1145 | 724 |
| ENST00000542181 | ENST00000261839 | ELP3 | chr8 | 28016150 | MYO5C | chr15 | 52500840 | 1167 | 747 |
| ORFfinder Result Based On The Fusion Transcript Sequences of the 5UTR-3CDS Fusion Genes for N-Truncated Protein Search. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (peptide) |
| ORFfinder Result Based On The Fusion Transcript Sequences of the 5CDS-3UTR Fusion Genes for C-Truncated Protein Search. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (peptide) |
| DeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of In-frame Fusion Genes. DeepORF is a Coding Potential Classifier Based on Convolutional Neural Network by Comparing the Real Ribo-seq Data. If the No-coding Score < 0.5 and Coding Score > 0.5, Then The In-frame Fusion Transcript is Predicted as Being Likely Translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | No-coding score | Coding score |
| ENST00000256398 | ENST00000261839 | ELP3 | chr8 | 28016150 | MYO5C | chr15 | 52500840 | 1.37e-04 | 1.00e+00 |
| ENST00000380353 | ENST00000261839 | ELP3 | chr8 | 28016150 | MYO5C | chr15 | 52500840 | 3.72e-04 | 1.00e+00 |
| ENST00000521015 | ENST00000261839 | ELP3 | chr8 | 28016150 | MYO5C | chr15 | 52500840 | 1.46e-04 | 1.00e+00 |
| ENST00000524103 | ENST00000261839 | ELP3 | chr8 | 28016150 | MYO5C | chr15 | 52500840 | 2.65e-04 | 1.00e+00 |
| ENST00000537665 | ENST00000261839 | ELP3 | chr8 | 28016150 | MYO5C | chr15 | 52500840 | 3.79e-04 | 1.00e+00 |
| ENST00000542181 | ENST00000261839 | ELP3 | chr8 | 28016150 | MYO5C | chr15 | 52500840 | 3.76e-04 | 1.00e+00 |
| DeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5UTR-3CDS Fusion Genes (Potential N-Truncated Proteins). |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | No-coding score | Coding score |
| DeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5CDS-3UTR Fusion Genes (Potential C-Truncated Proteins). |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | No-coding score | Coding score |
Top |
Fusion Protein Retained/Non-Retained Functional Features for ELP3_MYO5C |
| Protein Level Annotation from FGviewer * Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at download page. Minus value of BPloci means that the break pointn is located before the CDS. |
 |
| - In-frame and retained protein feature among the 13 regional features (visualization across fusion protein length). |
ELP3_MYO5C_chr8-28016150_chr15-52500840.png |
| - In-frame and retained protein feature among the 13 regional features (texts). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | ELP3 | chr8:28016150 | chr15:52500840 | ENST00000256398 | Q9H9T3 | 12 | 15 | 82_372 | 419.0 | 548.0 | Domain | Radical SAM core |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | ELP3 | chr8:28016150 | chr15:52500840 | ENST00000256398 | Q9H9T3 | 12 | 15 | 396_547 | 419.0 | 548.0 | Domain | N-acetyltransferase |
| Tgene | MYO5C | chr8:28016150 | chr15:52500840 | ENST00000261839 | Q9NQX4 | 34 | 41 | 884_1351 | 1432.0 | 1743.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | MYO5C | chr8:28016150 | chr15:52500840 | ENST00000261839 | Q9NQX4 | 34 | 41 | 1421_1697 | 1432.0 | 1743.0 | Domain | Dilute |
| Tgene | MYO5C | chr8:28016150 | chr15:52500840 | ENST00000261839 | Q9NQX4 | 34 | 41 | 67_753 | 1432.0 | 1743.0 | Domain | Myosin motor |
| Tgene | MYO5C | chr8:28016150 | chr15:52500840 | ENST00000261839 | Q9NQX4 | 34 | 41 | 756_779 | 1432.0 | 1743.0 | Domain | IQ 1 |
| Tgene | MYO5C | chr8:28016150 | chr15:52500840 | ENST00000261839 | Q9NQX4 | 34 | 41 | 780_806 | 1432.0 | 1743.0 | Domain | IQ 2 |
| Tgene | MYO5C | chr8:28016150 | chr15:52500840 | ENST00000261839 | Q9NQX4 | 34 | 41 | 807_829 | 1432.0 | 1743.0 | Domain | IQ 3 |
| Tgene | MYO5C | chr8:28016150 | chr15:52500840 | ENST00000261839 | Q9NQX4 | 34 | 41 | 830_854 | 1432.0 | 1743.0 | Domain | IQ 4 |
| Tgene | MYO5C | chr8:28016150 | chr15:52500840 | ENST00000261839 | Q9NQX4 | 34 | 41 | 855_884 | 1432.0 | 1743.0 | Domain | IQ 5 |
| Tgene | MYO5C | chr8:28016150 | chr15:52500840 | ENST00000261839 | Q9NQX4 | 34 | 41 | 8_62 | 1432.0 | 1743.0 | Domain | Myosin N-terminal SH3-like |
| Tgene | MYO5C | chr8:28016150 | chr15:52500840 | ENST00000261839 | Q9NQX4 | 34 | 41 | 632_654 | 1432.0 | 1743.0 | Region | Actin-binding |
| - Retained PPIs in in-frame fusion. |
| Partner | Hgene | Hbp | Tgene | Tbp | ENST | UniProt | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Hgene | Hbp | Tgene | Tbp | ENST | UniProt | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Fusion Transcript Sequence for ELP3_MYO5C |
| In-frame Fusion Transcript Sequences. |
>ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840 length=4147nt Breakpoint=1634nt GAGAGACCATCCACTTCCACCCTTTCACTTAGGCTTCCTGGCGCAGCCTCTATCCAGGAACTCTGTCCCATAGCTGTACTGCCCAGGTCGAGCTTTCTAACCCCAAGATGCCACTCCGTTCAGACGTTCCCATCCTCCATCCCTGAGACC CGGGGCAGGATCGCAGCCTAGGGGCCTCACGGGCCGCCTGCTACCCTGTTAGTTGCAACACGGGGCGGGGCGTGGCTTTGTGCACGTCGGCTTCCGGGAAGAGCTTTACGATACATTGACCGACATTTTACGACAGGCGGGATTGTTTTG TGGCTGTCAGCTTTCCCCGTGGTCTGAGTTTGTGGCTGCATTTTTATCTCTGGTGGCTCTGCTACGGCGGCGCAGAAATGAGGCAGAAGCGGAAAGGAGATCTCAGCCCTGCTGAGCTGATGATGCTGACTATAGGAGATGTTATTAAAC AACTGATTGAAGCCCACGAGCAGGGGAAAGACATCGATCTAAATAAGGTGAAAACCAAGACAGCTGCCAAATATGGCCTTTCTGCCCAGCCCCGCCTGGTGGATATCATTGCTGCCGTCCCTCCTCAGTATCGCAAGGTCTTGATGCCCA AGTTAAAGGCGAAACCCATCAGAACTGCTAGTGGGATTGCTGTCGTGGCTGTGATGTGCAAACCCCACAGATGTCCACACATCAGTTTTACAGGAAATATATGTGTATACTGCCCTGGTGGACCTGATTCTGATTTTGAGTATTCCACCC AGTCTTACACTGGCTATGAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGTTAAAACAACTTGGTCATAGTGTGGATAAAGTGGAGTTTATTGTGATGGGTGGAACGTTTA TGGCCCTTCCAGAAGAATACAGAGATTATTTTATTCGAAATTTACATGATGCCTTATCAGGACATACTTCCAACAATATTTACGAGGCAGTCAAGTATTCTGAGAGAAGCCTCACAAAGTGTATTGGAATTACTATTGAAACCAGACCAG ATTACTGCATGAAGCGACATTTAAGTGACATGTTGACCTATGGCTGCACAAGGCTGGAGATTGGGGTGCAGAGTGTTTATGAAGATGTGGCTAGAGACACCAACAGGGGCCACACTGTGAAGGCAGTGTGTGAGTCATTTCACCTGGCCA AAGATTCCGGTTTTAAAGTGGTGGCCCATATGATGCCTGACCTGCCAAACGTGGGACTAGAAAGAGACATTGAACAGTTCACAGAGTTTTTTGAGAACCCTGCTTTTCGTCCCGATGGGCTGAAACTCTATCCTACCCTGGTGATTCGTG GGACCGGGCTTTATGAGCTTTGGAAATCAGGAAGATATAAGAGTTACTCTCCTAGTGACCTGGTTGAATTGGTGGCTCGGATCCTAGCCCTCGTGCCTCCATGGACTCGAGTGTACCGAGTACAGAGGGATATTCCAATGCCTTTAGTTA GCTCAGGAGTAGAGCATGGTAACCTGAGAGAGCTGGCACTTGCAAGAATGAAAGACCTCGGAATACAGTGTCGAGATGTGAGAACCAGAGAAGTTGGAATCCAAGAAATTCATCACAAAGTACGGCCATACCAGGAACATTTAGAAGACT TTGAAATGCTGTCCTTTTGGCTTTCCAACACTTGTCATTTTCTCAATTGCCTGAAGCAGTACAGCGGAGAAGAGGAATTCATGAAGCATAATAGTCCACAGCAGAATAAGAATTGCTTGAACAATTTTGACCTTTCAGAATACAGACAGA TTCTCAGTGATGTGGCTATACGAATATATCATCAATTTATTATCATAATGGAAAAGAATATCCAACCGATAATAGTTCCGGGAATGCTGGAGTATGAGAGCCTGCAGGGCATTTCCGGCCTGAAGCCCACAGGCTTCCGGAAGCGCTCCT CTAGCATAGACGACACGGACGGCTACACCATGACCTCCGTCCTGCAACAGCTGAGCTACTTTTACACCACCATGTGCCAGAACGGCCTGGACCCCGAGCTTGTGAGGCAGGCGGTGAAGCAGCTCTTCTTCTTGATCGGGGCGGTCACGC TGAACAGCCTCTTCCTGCGCAAGGACATGTGCTCCTGCAGAAAAGGGATGCAGATCAGGTGCAATATCAGCTACTTAGAAGAATGGCTTAAAGATAAGAACTTGCAGAACAGCTTAGCAAAGGAAACTTTGGAGCCCCTCTCTCAGGCAG CCTGGTTGCTTCAGGTCAAGAAGACCACAGACAGTGATGCCAAGGAGATCTACGAACGCTGCACCTCACTGTCTGCTGTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTG TTCGCAAAGTACAGGCTCTCCTAAATAGCCGGGAGGATTCATCACAGCTGATGTTGGATACCAAATATCTCTTTCAAGTCACATTTCCTTTTACCCCCTCTCCACATGCTCTGGAAATGATTCAGATCCCCAGCAGTTTCAAGCTAGGCT TTCTGAATAGGTTATAGCAGGAGAAAAAGTCAATGCACTTTTTCTTCAAAAGCTAAGTGAAGGTTCAATATGAGGGATGTGTTTTATTAATTGGCAGTGGAAATTGGAATGTGATTTAAGGAAGAAAACAGACTTTTCTCAAATGGACCA CATCATCTCTCACTCACAGTGACAATGCTGCTCCTGTAATTTTGTAAGAATTCACACACACCAGCTGTATTTGGAAAAGCCATGTCTCACTCTCGAATCTCAGCTGGTTTTCACTGAAATTCCTGGAGGGCTCATATTTTCTTCCACGTG CCTCTTGATCTGTTCTGTCTTGTGGCAGGGCTCTACCAGGAGGGAGTGAGATCTGGGGACACAGTGGCTTCCAAGTTTTCTAAGGTTCATGTGAAACCTGAGTACATTTACAAAGCTGCAAGTGGATTCTAGTGCTGAGTCTTCCAGGAA AAAATCCCGTTTGGCCACCGTGACCTGCCAAAAGTTCTCTTGCCCCATGCCTGCTGGGGACAGAAGGTTTTCATGAACTCTTTTTACTGAAAATGCCCTGCATTTAAAAATGTTTATTTTAGACCCTTCTAAATTTTTTTTTTTTTTTTT TTTTGAGACTCCGGAGTCTCGCTCTATCGCCAGGCTGGAGTGTAGTGGCATGATCTCGGCTTATTGCAACCTCCGCTTCCTGGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCA GCTAATTTTTGTATTTTTAGTGGAGACAGGTTTCACCATGTTGGCCAGGATGGCCTCGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGTGCCACCGCGCCCGGCTGACCCTTTTAATTTT TAAGAGTGTTCAATCCGAGATGAATCATTTGAAGTATTTTTATATGTATATCTATTTAAAACTAATATATTATTAAAGCTTAATTGCCATGCCGTTTATCTTCTCTGAAAGAACTTCAAATCTTACCTGCCAACATATTCACCATAATTT TTTTATTTTTTAATACCTTTCATACAATAACTTTTTTAAAACAACCTCAGATTGAAAAAGCAACCTAAATTACTTTCGCTCTCTAATCAGCATTTCAATGTATTTATTTTTAAATTTTCTCAAAAAGTAACTAAAAAATTGTGTCGGACC CTACTTTTGAGAAATCTACGTTTCCCAAGTTTTATGGGAACTGGCTATTCCTTGTCCCGGCACACCTTCTCATTCCTTCCTTTCAGAGCCTAAAACCTCATTTGATAAGCACTCCTAGTCTCTGGCCTGTGGATCCAGTGCTATTCTGTC ACCAACCTAAGAATCCCAATTGCACCTTCTGTTTCTGACAGTCACAGGTGACAGCTGTGATTCTATAATACAGACTGGTGTCTTAGAGGTAGGAATAATACATGATTATGAAGCATCACCCTGCTAATACATAATAATGTCTTTTTATAT TATAAGTGATTGAGTTTAGTTCATTTCAATACATTGTACATGAAAAAATGAAAAGTAGAACTTTGTAATACTTTAATCAATAAAATTAATTACCAAA >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840 length=3661nt Breakpoint=1148nt CTCTGGTGGCTCTGCTACGGCGGCGCAGAAATGAGGCAGAAGCGGAAAGGAGATCTCAGCCCTGCTGAGCTGATGATGCTGACTATAGGAGATGTTATTAAACAACTGATTGAAGCCCACGAGCAGGGGAAAGACATCGATCTAAATAAA TTGCTGTCGTGGCTGTGATGTGCAAACCCCACAGATGTCCACACATCAGTTTTACAGGAAATATATGTGTATACTGCCCTGGTGGACCTGATTCTGATTTTGAGTATTCCACCCAGTCTTACACTGGCTATGAGCCAACCTCCATGAGAG CTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGTTAAAACAACTTGGTCATAGTGTGGATAAAGTGGAGTTTATTGTGATGGGTGGAACGTTTATGGCCCTTCCAGAAGAATACAGAGATTATTTTATTC GAAATTTACATGATGCCTTATCAGGACATACTTCCAACAATATTTACGAGGCAGTCAAGTATTCTGAGAGAAGCCTCACAAAGTGTATTGGAATTACTATTGAAACCAGACCAGATTACTGCATGAAGCGACATTTAAGTGACATGTTGA CCTATGGCTGCACAAGGCTGGAGATTGGGGTGCAGAGTGTTTATGAAGATGTGGCTAGAGACACCAACAGGGGCCACACTGTGAAGGCAGTGTGTGAGTCATTTCACCTGGCCAAAGATTCCGGTTTTAAAGTGGTGGCCCATATGATGC CTGACCTGCCAAACGTGGGACTAGAAAGAGACATTGAACAGTTCACAGAGTTTTTTGAGAACCCTGCTTTTCGTCCCGATGGGCTGAAACTCTATCCTACCCTGGTGATTCGTGGGACCGGGCTTTATGAGCTTTGGAAATCAGGAAGAT ATAAGAGTTACTCTCCTAGTGACCTGGTTGAATTGGTGGCTCGGATCCTAGCCCTCGTGCCTCCATGGACTCGAGTGTACCGAGTACAGAGGGATATTCCAATGCCTTTAGTTAGCTCAGGAGTAGAGCATGGTAACCTGAGAGAGCTGG CACTTGCAAGAATGAAAGACCTCGGAATACAGTGTCGAGATGTGAGAACCAGAGAAGTTGGAATCCAAGAAATTCATCACAAAGTACGGCCATACCAGGAACATTTAGAAGACTTTGAAATGCTGTCCTTTTGGCTTTCCAACACTTGTC ATTTTCTCAATTGCCTGAAGCAGTACAGCGGAGAAGAGGAATTCATGAAGCATAATAGTCCACAGCAGAATAAGAATTGCTTGAACAATTTTGACCTTTCAGAATACAGACAGATTCTCAGTGATGTGGCTATACGAATATATCATCAAT TTATTATCATAATGGAAAAGAATATCCAACCGATAATAGTTCCGGGAATGCTGGAGTATGAGAGCCTGCAGGGCATTTCCGGCCTGAAGCCCACAGGCTTCCGGAAGCGCTCCTCTAGCATAGACGACACGGACGGCTACACCATGACCT CCGTCCTGCAACAGCTGAGCTACTTTTACACCACCATGTGCCAGAACGGCCTGGACCCCGAGCTTGTGAGGCAGGCGGTGAAGCAGCTCTTCTTCTTGATCGGGGCGGTCACGCTGAACAGCCTCTTCCTGCGCAAGGACATGTGCTCCT GCAGAAAAGGGATGCAGATCAGGTGCAATATCAGCTACTTAGAAGAATGGCTTAAAGATAAGAACTTGCAGAACAGCTTAGCAAAGGAAACTTTGGAGCCCCTCTCTCAGGCAGCCTGGTTGCTTCAGGTCAAGAAGACCACAGACAGTG ATGCCAAGGAGATCTACGAACGCTGCACCTCACTGTCTGCTGTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGCTCTCCTAAATAGCCGGGAGG ATTCATCACAGCTGATGTTGGATACCAAATATCTCTTTCAAGTCACATTTCCTTTTACCCCCTCTCCACATGCTCTGGAAATGATTCAGATCCCCAGCAGTTTCAAGCTAGGCTTTCTGAATAGGTTATAGCAGGAGAAAAAGTCAATGC ACTTTTTCTTCAAAAGCTAAGTGAAGGTTCAATATGAGGGATGTGTTTTATTAATTGGCAGTGGAAATTGGAATGTGATTTAAGGAAGAAAACAGACTTTTCTCAAATGGACCACATCATCTCTCACTCACAGTGACAATGCTGCTCCTG TAATTTTGTAAGAATTCACACACACCAGCTGTATTTGGAAAAGCCATGTCTCACTCTCGAATCTCAGCTGGTTTTCACTGAAATTCCTGGAGGGCTCATATTTTCTTCCACGTGCCTCTTGATCTGTTCTGTCTTGTGGCAGGGCTCTAC CAGGAGGGAGTGAGATCTGGGGACACAGTGGCTTCCAAGTTTTCTAAGGTTCATGTGAAACCTGAGTACATTTACAAAGCTGCAAGTGGATTCTAGTGCTGAGTCTTCCAGGAAAAAATCCCGTTTGGCCACCGTGACCTGCCAAAAGTT CTCTTGCCCCATGCCTGCTGGGGACAGAAGGTTTTCATGAACTCTTTTTACTGAAAATGCCCTGCATTTAAAAATGTTTATTTTAGACCCTTCTAAATTTTTTTTTTTTTTTTTTTTTGAGACTCCGGAGTCTCGCTCTATCGCCAGGCT GGAGTGTAGTGGCATGATCTCGGCTTATTGCAACCTCCGCTTCCTGGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGACAGGTTTCAC CATGTTGGCCAGGATGGCCTCGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGTGCCACCGCGCCCGGCTGACCCTTTTAATTTTTAAGAGTGTTCAATCCGAGATGAATCATTTGAAGTA TTTTTATATGTATATCTATTTAAAACTAATATATTATTAAAGCTTAATTGCCATGCCGTTTATCTTCTCTGAAAGAACTTCAAATCTTACCTGCCAACATATTCACCATAATTTTTTTATTTTTTAATACCTTTCATACAATAACTTTTT TAAAACAACCTCAGATTGAAAAAGCAACCTAAATTACTTTCGCTCTCTAATCAGCATTTCAATGTATTTATTTTTAAATTTTCTCAAAAAGTAACTAAAAAATTGTGTCGGACCCTACTTTTGAGAAATCTACGTTTCCCAAGTTTTATG GGAACTGGCTATTCCTTGTCCCGGCACACCTTCTCATTCCTTCCTTTCAGAGCCTAAAACCTCATTTGATAAGCACTCCTAGTCTCTGGCCTGTGGATCCAGTGCTATTCTGTCACCAACCTAAGAATCCCAATTGCACCTTCTGTTTCT GACAGTCACAGGTGACAGCTGTGATTCTATAATACAGACTGGTGTCTTAGAGGTAGGAATAATACATGATTATGAAGCATCACCCTGCTAATACATAATAATGTCTTTTTATATTATAAGTGATTGAGTTTAGTTCATTTCAATACATTG TACATGAAAAAATGAAAAGTAGAACTTTGTAATACTTTAATCAATAAAATTAATTACCAAA >ELP3_MYO5C_ENST00000521015_ENST00000261839_28016150_52500840 length=3853nt Breakpoint=1340nt CGAAGCTTCAGGAGACCTATCCTCATCTGTGCAAGGAGGAGTGGCCAACTCTGGAGCCCAGGCTGTTGCTTCCTGGTCTGGTGGTGAATCCTCCATAGTCTGGAGATCTCAGCCCTGCTGAGCTGATGATGCTGACTATAGGAGATGTTA TTAAACAACTGATTGAAGCCCACGAGCAGGGGAAAGACATCGATCTAAATAAGGTGAAAACCAAGACAGCTGCCAAATATGGCCTTTCTGCCCAGCCCCGCCTGGTGGATATCATTGCTGCCGTCCCTCCTCAGTATCGCAAGGTCTTGA TGCCCAAGTTAAAGGCGAAACCCATCAGAACTGCTAGTGGGATTGCTGTCGTGGCTGTGATGTGCAAACCCCACAGATGTCCACACATCAGTTTTACAGGAAATATATGTGTATACTGCCCTGGTGGACCTGATTCTGATTTTGAGTATT CCACCCAGTCTTACACTGGCTATGAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGTTAAAACAACTTGGTCATAGTGTGGATAAAGTGGAGTTTATTGTGATGGGTGGAA CGTTTATGGCCCTTCCAGAAGAATACAGAGATTATTTTATTCGAAATTTACATGATGCCTTATCAGGACATACTTCCAACAATATTTACGAGGCAGTCAAGTATTCTGAGAGAAGCCTCACAAAGTGTATTGGAATTACTATTGAAACCA GACCAGATTACTGCATGAAGCGACATTTAAGTGACATGTTGACCTATGGCTGCACAAGGCTGGAGATTGGGGTGCAGAGTGTTTATGAAGATGTGGCTAGAGACACCAACAGGGGCCACACTGTGAAGGCAGTGTGTGAGTCATTTCACC TGGCCAAAGATTCCGGTTTTAAAGTGGTGGCCCATATGATGCCTGACCTGCCAAACGTGGGACTAGAAAGAGACATTGAACAGTTCACAGAGTTTTTTGAGAACCCTGCTTTTCGTCCCGATGGGCTGAAACTCTATCCTACCCTGGTGA TTCGTGGGACCGGGCTTTATGAGCTTTGGAAATCAGGAAGATATAAGAGTTACTCTCCTAGTGACCTGGTTGAATTGGTGGCTCGGATCCTAGCCCTCGTGCCTCCATGGACTCGAGTGTACCGAGTACAGAGGGATATTCCAATGCCTT TAGTTAGCTCAGGAGTAGAGCATGGTAACCTGAGAGAGCTGGCACTTGCAAGAATGAAAGACCTCGGAATACAGTGTCGAGATGTGAGAACCAGAGAAGTTGGAATCCAAGAAATTCATCACAAAGTACGGCCATACCAGGAACATTTAG AAGACTTTGAAATGCTGTCCTTTTGGCTTTCCAACACTTGTCATTTTCTCAATTGCCTGAAGCAGTACAGCGGAGAAGAGGAATTCATGAAGCATAATAGTCCACAGCAGAATAAGAATTGCTTGAACAATTTTGACCTTTCAGAATACA GACAGATTCTCAGTGATGTGGCTATACGAATATATCATCAATTTATTATCATAATGGAAAAGAATATCCAACCGATAATAGTTCCGGGAATGCTGGAGTATGAGAGCCTGCAGGGCATTTCCGGCCTGAAGCCCACAGGCTTCCGGAAGC GCTCCTCTAGCATAGACGACACGGACGGCTACACCATGACCTCCGTCCTGCAACAGCTGAGCTACTTTTACACCACCATGTGCCAGAACGGCCTGGACCCCGAGCTTGTGAGGCAGGCGGTGAAGCAGCTCTTCTTCTTGATCGGGGCGG TCACGCTGAACAGCCTCTTCCTGCGCAAGGACATGTGCTCCTGCAGAAAAGGGATGCAGATCAGGTGCAATATCAGCTACTTAGAAGAATGGCTTAAAGATAAGAACTTGCAGAACAGCTTAGCAAAGGAAACTTTGGAGCCCCTCTCTC AGGCAGCCTGGTTGCTTCAGGTCAAGAAGACCACAGACAGTGATGCCAAGGAGATCTACGAACGCTGCACCTCACTGTCTGCTGTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCAT CCTTTGTTCGCAAAGTACAGGCTCTCCTAAATAGCCGGGAGGATTCATCACAGCTGATGTTGGATACCAAATATCTCTTTCAAGTCACATTTCCTTTTACCCCCTCTCCACATGCTCTGGAAATGATTCAGATCCCCAGCAGTTTCAAGC TAGGCTTTCTGAATAGGTTATAGCAGGAGAAAAAGTCAATGCACTTTTTCTTCAAAAGCTAAGTGAAGGTTCAATATGAGGGATGTGTTTTATTAATTGGCAGTGGAAATTGGAATGTGATTTAAGGAAGAAAACAGACTTTTCTCAAAT GGACCACATCATCTCTCACTCACAGTGACAATGCTGCTCCTGTAATTTTGTAAGAATTCACACACACCAGCTGTATTTGGAAAAGCCATGTCTCACTCTCGAATCTCAGCTGGTTTTCACTGAAATTCCTGGAGGGCTCATATTTTCTTC CACGTGCCTCTTGATCTGTTCTGTCTTGTGGCAGGGCTCTACCAGGAGGGAGTGAGATCTGGGGACACAGTGGCTTCCAAGTTTTCTAAGGTTCATGTGAAACCTGAGTACATTTACAAAGCTGCAAGTGGATTCTAGTGCTGAGTCTTC CAGGAAAAAATCCCGTTTGGCCACCGTGACCTGCCAAAAGTTCTCTTGCCCCATGCCTGCTGGGGACAGAAGGTTTTCATGAACTCTTTTTACTGAAAATGCCCTGCATTTAAAAATGTTTATTTTAGACCCTTCTAAATTTTTTTTTTT TTTTTTTTTTGAGACTCCGGAGTCTCGCTCTATCGCCAGGCTGGAGTGTAGTGGCATGATCTCGGCTTATTGCAACCTCCGCTTCCTGGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCA CGCCCAGCTAATTTTTGTATTTTTAGTGGAGACAGGTTTCACCATGTTGGCCAGGATGGCCTCGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGTGCCACCGCGCCCGGCTGACCCTTTT AATTTTTAAGAGTGTTCAATCCGAGATGAATCATTTGAAGTATTTTTATATGTATATCTATTTAAAACTAATATATTATTAAAGCTTAATTGCCATGCCGTTTATCTTCTCTGAAAGAACTTCAAATCTTACCTGCCAACATATTCACCA TAATTTTTTTATTTTTTAATACCTTTCATACAATAACTTTTTTAAAACAACCTCAGATTGAAAAAGCAACCTAAATTACTTTCGCTCTCTAATCAGCATTTCAATGTATTTATTTTTAAATTTTCTCAAAAAGTAACTAAAAAATTGTGT CGGACCCTACTTTTGAGAAATCTACGTTTCCCAAGTTTTATGGGAACTGGCTATTCCTTGTCCCGGCACACCTTCTCATTCCTTCCTTTCAGAGCCTAAAACCTCATTTGATAAGCACTCCTAGTCTCTGGCCTGTGGATCCAGTGCTAT TCTGTCACCAACCTAAGAATCCCAATTGCACCTTCTGTTTCTGACAGTCACAGGTGACAGCTGTGATTCTATAATACAGACTGGTGTCTTAGAGGTAGGAATAATACATGATTATGAAGCATCACCCTGCTAATACATAATAATGTCTTT TTATATTATAAGTGATTGAGTTTAGTTCATTTCAATACATTGTACATGAAAAAATGAAAAGTAGAACTTTGTAATACTTTAATCAATAAAATTAATTACCAAA >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840 length=3773nt Breakpoint=1260nt ATTTTACGACAGGCGGGATTGTTTTGTGGCTGTCAGCTTTCCCCGTGGTCTGAGTTTGTGGCTGCATTTTTATCTCTGGTGGCTCTGCTACGGCGGCGCAGAAATGAGGCAGAAGCGGAAAGGGTGAAAACCAAGACAGCTGCCAAATAT GGCCTTTCTGCCCAGCCCCGCCTGGTGGATATCATTGCTGCCGTCCCTCCTCAGTATCGCAAGGTCTTGATGCCCAAGTTAAAGGCGAAACCCATCAGAACTGCTAGTGGGATTGCTGTCGTGGCTGTGATGTGCAAACCCCACAGATGT CCACACATCAGTTTTACAGGAAATATATGTGTATACTGCCCTGGTGGACCTGATTCTGATTTTGAGTATTCCACCCAGTCTTACACTGGCTATGAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGA CACCGAATAGAACAGTTAAAACAACTTGGTCATAGTGTGGATAAAGTGGAGTTTATTGTGATGGGTGGAACGTTTATGGCCCTTCCAGAAGAATACAGAGATTATTTTATTCGAAATTTACATGATGCCTTATCAGGACATACTTCCAAC AATATTTACGAGGCAGTCAAGTATTCTGAGAGAAGCCTCACAAAGTGTATTGGAATTACTATTGAAACCAGACCAGATTACTGCATGAAGCGACATTTAAGTGACATGTTGACCTATGGCTGCACAAGGCTGGAGATTGGGGTGCAGAGT GTTTATGAAGATGTGGCTAGAGACACCAACAGGGGCCACACTGTGAAGGCAGTGTGTGAGTCATTTCACCTGGCCAAAGATTCCGGTTTTAAAGTGGTGGCCCATATGATGCCTGACCTGCCAAACGTGGGACTAGAAAGAGACATTGAA CAGTTCACAGAGTTTTTTGAGAACCCTGCTTTTCGTCCCGATGGGCTGAAACTCTATCCTACCCTGGTGATTCGTGGGACCGGGCTTTATGAGCTTTGGAAATCAGGAAGATATAAGAGTTACTCTCCTAGTGACCTGGTTGAATTGGTG GCTCGGATCCTAGCCCTCGTGCCTCCATGGACTCGAGTGTACCGAGTACAGAGGGATATTCCAATGCCTTTAGTTAGCTCAGGAGTAGAGCATGGTAACCTGAGAGAGCTGGCACTTGCAAGAATGAAAGACCTCGGAATACAGTGTCGA GATGTGAGAACCAGAGAAGTTGGAATCCAAGAAATTCATCACAAAGTACGGCCATACCAGGAACATTTAGAAGACTTTGAAATGCTGTCCTTTTGGCTTTCCAACACTTGTCATTTTCTCAATTGCCTGAAGCAGTACAGCGGAGAAGAG GAATTCATGAAGCATAATAGTCCACAGCAGAATAAGAATTGCTTGAACAATTTTGACCTTTCAGAATACAGACAGATTCTCAGTGATGTGGCTATACGAATATATCATCAATTTATTATCATAATGGAAAAGAATATCCAACCGATAATA GTTCCGGGAATGCTGGAGTATGAGAGCCTGCAGGGCATTTCCGGCCTGAAGCCCACAGGCTTCCGGAAGCGCTCCTCTAGCATAGACGACACGGACGGCTACACCATGACCTCCGTCCTGCAACAGCTGAGCTACTTTTACACCACCATG TGCCAGAACGGCCTGGACCCCGAGCTTGTGAGGCAGGCGGTGAAGCAGCTCTTCTTCTTGATCGGGGCGGTCACGCTGAACAGCCTCTTCCTGCGCAAGGACATGTGCTCCTGCAGAAAAGGGATGCAGATCAGGTGCAATATCAGCTAC TTAGAAGAATGGCTTAAAGATAAGAACTTGCAGAACAGCTTAGCAAAGGAAACTTTGGAGCCCCTCTCTCAGGCAGCCTGGTTGCTTCAGGTCAAGAAGACCACAGACAGTGATGCCAAGGAGATCTACGAACGCTGCACCTCACTGTCT GCTGTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGCTCTCCTAAATAGCCGGGAGGATTCATCACAGCTGATGTTGGATACCAAATATCTCTTT CAAGTCACATTTCCTTTTACCCCCTCTCCACATGCTCTGGAAATGATTCAGATCCCCAGCAGTTTCAAGCTAGGCTTTCTGAATAGGTTATAGCAGGAGAAAAAGTCAATGCACTTTTTCTTCAAAAGCTAAGTGAAGGTTCAATATGAG GGATGTGTTTTATTAATTGGCAGTGGAAATTGGAATGTGATTTAAGGAAGAAAACAGACTTTTCTCAAATGGACCACATCATCTCTCACTCACAGTGACAATGCTGCTCCTGTAATTTTGTAAGAATTCACACACACCAGCTGTATTTGG AAAAGCCATGTCTCACTCTCGAATCTCAGCTGGTTTTCACTGAAATTCCTGGAGGGCTCATATTTTCTTCCACGTGCCTCTTGATCTGTTCTGTCTTGTGGCAGGGCTCTACCAGGAGGGAGTGAGATCTGGGGACACAGTGGCTTCCAA GTTTTCTAAGGTTCATGTGAAACCTGAGTACATTTACAAAGCTGCAAGTGGATTCTAGTGCTGAGTCTTCCAGGAAAAAATCCCGTTTGGCCACCGTGACCTGCCAAAAGTTCTCTTGCCCCATGCCTGCTGGGGACAGAAGGTTTTCAT GAACTCTTTTTACTGAAAATGCCCTGCATTTAAAAATGTTTATTTTAGACCCTTCTAAATTTTTTTTTTTTTTTTTTTTTGAGACTCCGGAGTCTCGCTCTATCGCCAGGCTGGAGTGTAGTGGCATGATCTCGGCTTATTGCAACCTCC GCTTCCTGGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGACAGGTTTCACCATGTTGGCCAGGATGGCCTCGATCTCTTGACCTCGTG ATCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGTGCCACCGCGCCCGGCTGACCCTTTTAATTTTTAAGAGTGTTCAATCCGAGATGAATCATTTGAAGTATTTTTATATGTATATCTATTTAAAACTAATATATTATT AAAGCTTAATTGCCATGCCGTTTATCTTCTCTGAAAGAACTTCAAATCTTACCTGCCAACATATTCACCATAATTTTTTTATTTTTTAATACCTTTCATACAATAACTTTTTTAAAACAACCTCAGATTGAAAAAGCAACCTAAATTACT TTCGCTCTCTAATCAGCATTTCAATGTATTTATTTTTAAATTTTCTCAAAAAGTAACTAAAAAATTGTGTCGGACCCTACTTTTGAGAAATCTACGTTTCCCAAGTTTTATGGGAACTGGCTATTCCTTGTCCCGGCACACCTTCTCATT CCTTCCTTTCAGAGCCTAAAACCTCATTTGATAAGCACTCCTAGTCTCTGGCCTGTGGATCCAGTGCTATTCTGTCACCAACCTAAGAATCCCAATTGCACCTTCTGTTTCTGACAGTCACAGGTGACAGCTGTGATTCTATAATACAGA CTGGTGTCTTAGAGGTAGGAATAATACATGATTATGAAGCATCACCCTGCTAATACATAATAATGTCTTTTTATATTATAAGTGATTGAGTTTAGTTCATTTCAATACATTGTACATGAAAAAATGAAAAGTAGAACTTTGTAATACTTT AATCAATAAAATTAATTACCAAA >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840 length=3658nt Breakpoint=1145nt GAGTTTGTGGCTGCATTTTTATCTCTGGTGGCTCTGCTACGGCGGCGCAGAAATGAGGCAGAAGCGGAAAGGGTGAAAACCAAGACAGCTGCCAAATATGGCCTTTCTGCCCAGCCCCGCCTGGTGGATATCATTGCTGCCGTCCCTCCT CAGTATCGCAAGGTCTTGATGCCCAAGTTAAAGGCGAAACCCATCAGAACTGCTAGTGGGATTGCTGTCGTGGCTGTGATGTGCAAACCCCACAGATGTCCACACATCAGTTTTACAGGAAATATATGTGTCCAACCTCCATGAGAGCTA TCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGTTAAAACAACTTGGTCATAGTGTGGATAAAGTGGAGTTTATTGTGATGGGTGGAACGTTTATGGCCCTTCCAGAAGAATACAGAGATTATTTTATTCGAA ATTTACATGATGCCTTATCAGGACATACTTCCAACAATATTTACGAGGCAGTCAAGTATTCTGAGAGAAGCCTCACAAAGTGTATTGGAATTACTATTGAAACCAGACCAGATTACTGCATGAAGCGACATTTAAGTGACATGTTGACCT ATGGCTGCACAAGGCTGGAGATTGGGGTGCAGAGTGTTTATGAAGATGTGGCTAGAGACACCAACAGGGGCCACACTGTGAAGGCAGTGTGTGAGTCATTTCACCTGGCCAAAGATTCCGGTTTTAAAGTGGTGGCCCATATGATGCCTG ACCTGCCAAACGTGGGACTAGAAAGAGACATTGAACAGTTCACAGAGTTTTTTGAGAACCCTGCTTTTCGTCCCGATGGGCTGAAACTCTATCCTACCCTGGTGATTCGTGGGACCGGGCTTTATGAGCTTTGGAAATCAGGAAGATATA AGAGTTACTCTCCTAGTGACCTGGTTGAATTGGTGGCTCGGATCCTAGCCCTCGTGCCTCCATGGACTCGAGTGTACCGAGTACAGAGGGATATTCCAATGCCTTTAGTTAGCTCAGGAGTAGAGCATGGTAACCTGAGAGAGCTGGCAC TTGCAAGAATGAAAGACCTCGGAATACAGTGTCGAGATGTGAGAACCAGAGAAGTTGGAATCCAAGAAATTCATCACAAAGTACGGCCATACCAGGAACATTTAGAAGACTTTGAAATGCTGTCCTTTTGGCTTTCCAACACTTGTCATT TTCTCAATTGCCTGAAGCAGTACAGCGGAGAAGAGGAATTCATGAAGCATAATAGTCCACAGCAGAATAAGAATTGCTTGAACAATTTTGACCTTTCAGAATACAGACAGATTCTCAGTGATGTGGCTATACGAATATATCATCAATTTA TTATCATAATGGAAAAGAATATCCAACCGATAATAGTTCCGGGAATGCTGGAGTATGAGAGCCTGCAGGGCATTTCCGGCCTGAAGCCCACAGGCTTCCGGAAGCGCTCCTCTAGCATAGACGACACGGACGGCTACACCATGACCTCCG TCCTGCAACAGCTGAGCTACTTTTACACCACCATGTGCCAGAACGGCCTGGACCCCGAGCTTGTGAGGCAGGCGGTGAAGCAGCTCTTCTTCTTGATCGGGGCGGTCACGCTGAACAGCCTCTTCCTGCGCAAGGACATGTGCTCCTGCA GAAAAGGGATGCAGATCAGGTGCAATATCAGCTACTTAGAAGAATGGCTTAAAGATAAGAACTTGCAGAACAGCTTAGCAAAGGAAACTTTGGAGCCCCTCTCTCAGGCAGCCTGGTTGCTTCAGGTCAAGAAGACCACAGACAGTGATG CCAAGGAGATCTACGAACGCTGCACCTCACTGTCTGCTGTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGCTCTCCTAAATAGCCGGGAGGATT CATCACAGCTGATGTTGGATACCAAATATCTCTTTCAAGTCACATTTCCTTTTACCCCCTCTCCACATGCTCTGGAAATGATTCAGATCCCCAGCAGTTTCAAGCTAGGCTTTCTGAATAGGTTATAGCAGGAGAAAAAGTCAATGCACT TTTTCTTCAAAAGCTAAGTGAAGGTTCAATATGAGGGATGTGTTTTATTAATTGGCAGTGGAAATTGGAATGTGATTTAAGGAAGAAAACAGACTTTTCTCAAATGGACCACATCATCTCTCACTCACAGTGACAATGCTGCTCCTGTAA TTTTGTAAGAATTCACACACACCAGCTGTATTTGGAAAAGCCATGTCTCACTCTCGAATCTCAGCTGGTTTTCACTGAAATTCCTGGAGGGCTCATATTTTCTTCCACGTGCCTCTTGATCTGTTCTGTCTTGTGGCAGGGCTCTACCAG GAGGGAGTGAGATCTGGGGACACAGTGGCTTCCAAGTTTTCTAAGGTTCATGTGAAACCTGAGTACATTTACAAAGCTGCAAGTGGATTCTAGTGCTGAGTCTTCCAGGAAAAAATCCCGTTTGGCCACCGTGACCTGCCAAAAGTTCTC TTGCCCCATGCCTGCTGGGGACAGAAGGTTTTCATGAACTCTTTTTACTGAAAATGCCCTGCATTTAAAAATGTTTATTTTAGACCCTTCTAAATTTTTTTTTTTTTTTTTTTTTGAGACTCCGGAGTCTCGCTCTATCGCCAGGCTGGA GTGTAGTGGCATGATCTCGGCTTATTGCAACCTCCGCTTCCTGGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGACAGGTTTCACCAT GTTGGCCAGGATGGCCTCGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGTGCCACCGCGCCCGGCTGACCCTTTTAATTTTTAAGAGTGTTCAATCCGAGATGAATCATTTGAAGTATTT TTATATGTATATCTATTTAAAACTAATATATTATTAAAGCTTAATTGCCATGCCGTTTATCTTCTCTGAAAGAACTTCAAATCTTACCTGCCAACATATTCACCATAATTTTTTTATTTTTTAATACCTTTCATACAATAACTTTTTTAA AACAACCTCAGATTGAAAAAGCAACCTAAATTACTTTCGCTCTCTAATCAGCATTTCAATGTATTTATTTTTAAATTTTCTCAAAAAGTAACTAAAAAATTGTGTCGGACCCTACTTTTGAGAAATCTACGTTTCCCAAGTTTTATGGGA ACTGGCTATTCCTTGTCCCGGCACACCTTCTCATTCCTTCCTTTCAGAGCCTAAAACCTCATTTGATAAGCACTCCTAGTCTCTGGCCTGTGGATCCAGTGCTATTCTGTCACCAACCTAAGAATCCCAATTGCACCTTCTGTTTCTGAC AGTCACAGGTGACAGCTGTGATTCTATAATACAGACTGGTGTCTTAGAGGTAGGAATAATACATGATTATGAAGCATCACCCTGCTAATACATAATAATGTCTTTTTATATTATAAGTGATTGAGTTTAGTTCATTTCAATACATTGTAC ATGAAAAAATGAAAAGTAGAACTTTGTAATACTTTAATCAATAAAATTAATTACCAAA >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840 length=3680nt Breakpoint=1167nt ATTGACCGACATTTTACGACAGGCGGGATTGTTTTGTGGCTGTCAGCTTTCCCCGTGGTCTGAGTTTGTGGCTGCATTTTTATCTCTGGTGGCTCTGCTACGGCGGCGCAGAAATGAGGCAGAAGCGGAAAGGAGATCTCAGCCCTGCTG AGCTGATGATGCTGACTATAGGAGATGTTATTAAACAACTGATTGAAGCCCACGAGCAGGGGAAAGACATCGATCTAAATAAATTGCTGTCGTGGCTGTGATGTGCAAACCCCACAGATGTCCACACATCAGTTTTACAGGAAATATATG TGTCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGTTAAAACAACTTGGTCATAGTGTGGATAAAGTGGAGTTTATTGTGATGGGTGGAACGTTTATGGCCCTTCCAGAAGAA TACAGAGATTATTTTATTCGAAATTTACATGATGCCTTATCAGGACATACTTCCAACAATATTTACGAGGCAGTCAAGTATTCTGAGAGAAGCCTCACAAAGTGTATTGGAATTACTATTGAAACCAGACCAGATTACTGCATGAAGCGA CATTTAAGTGACATGTTGACCTATGGCTGCACAAGGCTGGAGATTGGGGTGCAGAGTGTTTATGAAGATGTGGCTAGAGACACCAACAGGGGCCACACTGTGAAGGCAGTGTGTGAGTCATTTCACCTGGCCAAAGATTCCGGTTTTAAA GTGGTGGCCCATATGATGCCTGACCTGCCAAACGTGGGACTAGAAAGAGACATTGAACAGTTCACAGAGTTTTTTGAGAACCCTGCTTTTCGTCCCGATGGGCTGAAACTCTATCCTACCCTGGTGATTCGTGGGACCGGGCTTTATGAG CTTTGGAAATCAGGAAGATATAAGAGTTACTCTCCTAGTGACCTGGTTGAATTGGTGGCTCGGATCCTAGCCCTCGTGCCTCCATGGACTCGAGTGTACCGAGTACAGAGGGATATTCCAATGCCTTTAGTTAGCTCAGGAGTAGAGCAT GGTAACCTGAGAGAGCTGGCACTTGCAAGAATGAAAGACCTCGGAATACAGTGTCGAGATGTGAGAACCAGAGAAGTTGGAATCCAAGAAATTCATCACAAAGTACGGCCATACCAGGAACATTTAGAAGACTTTGAAATGCTGTCCTTT TGGCTTTCCAACACTTGTCATTTTCTCAATTGCCTGAAGCAGTACAGCGGAGAAGAGGAATTCATGAAGCATAATAGTCCACAGCAGAATAAGAATTGCTTGAACAATTTTGACCTTTCAGAATACAGACAGATTCTCAGTGATGTGGCT ATACGAATATATCATCAATTTATTATCATAATGGAAAAGAATATCCAACCGATAATAGTTCCGGGAATGCTGGAGTATGAGAGCCTGCAGGGCATTTCCGGCCTGAAGCCCACAGGCTTCCGGAAGCGCTCCTCTAGCATAGACGACACG GACGGCTACACCATGACCTCCGTCCTGCAACAGCTGAGCTACTTTTACACCACCATGTGCCAGAACGGCCTGGACCCCGAGCTTGTGAGGCAGGCGGTGAAGCAGCTCTTCTTCTTGATCGGGGCGGTCACGCTGAACAGCCTCTTCCTG CGCAAGGACATGTGCTCCTGCAGAAAAGGGATGCAGATCAGGTGCAATATCAGCTACTTAGAAGAATGGCTTAAAGATAAGAACTTGCAGAACAGCTTAGCAAAGGAAACTTTGGAGCCCCTCTCTCAGGCAGCCTGGTTGCTTCAGGTC AAGAAGACCACAGACAGTGATGCCAAGGAGATCTACGAACGCTGCACCTCACTGTCTGCTGTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGCT CTCCTAAATAGCCGGGAGGATTCATCACAGCTGATGTTGGATACCAAATATCTCTTTCAAGTCACATTTCCTTTTACCCCCTCTCCACATGCTCTGGAAATGATTCAGATCCCCAGCAGTTTCAAGCTAGGCTTTCTGAATAGGTTATAG CAGGAGAAAAAGTCAATGCACTTTTTCTTCAAAAGCTAAGTGAAGGTTCAATATGAGGGATGTGTTTTATTAATTGGCAGTGGAAATTGGAATGTGATTTAAGGAAGAAAACAGACTTTTCTCAAATGGACCACATCATCTCTCACTCAC AGTGACAATGCTGCTCCTGTAATTTTGTAAGAATTCACACACACCAGCTGTATTTGGAAAAGCCATGTCTCACTCTCGAATCTCAGCTGGTTTTCACTGAAATTCCTGGAGGGCTCATATTTTCTTCCACGTGCCTCTTGATCTGTTCTG TCTTGTGGCAGGGCTCTACCAGGAGGGAGTGAGATCTGGGGACACAGTGGCTTCCAAGTTTTCTAAGGTTCATGTGAAACCTGAGTACATTTACAAAGCTGCAAGTGGATTCTAGTGCTGAGTCTTCCAGGAAAAAATCCCGTTTGGCCA CCGTGACCTGCCAAAAGTTCTCTTGCCCCATGCCTGCTGGGGACAGAAGGTTTTCATGAACTCTTTTTACTGAAAATGCCCTGCATTTAAAAATGTTTATTTTAGACCCTTCTAAATTTTTTTTTTTTTTTTTTTTTGAGACTCCGGAGT CTCGCTCTATCGCCAGGCTGGAGTGTAGTGGCATGATCTCGGCTTATTGCAACCTCCGCTTCCTGGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTT TAGTGGAGACAGGTTTCACCATGTTGGCCAGGATGGCCTCGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGTGCCACCGCGCCCGGCTGACCCTTTTAATTTTTAAGAGTGTTCAATCCG AGATGAATCATTTGAAGTATTTTTATATGTATATCTATTTAAAACTAATATATTATTAAAGCTTAATTGCCATGCCGTTTATCTTCTCTGAAAGAACTTCAAATCTTACCTGCCAACATATTCACCATAATTTTTTTATTTTTTAATACC TTTCATACAATAACTTTTTTAAAACAACCTCAGATTGAAAAAGCAACCTAAATTACTTTCGCTCTCTAATCAGCATTTCAATGTATTTATTTTTAAATTTTCTCAAAAAGTAACTAAAAAATTGTGTCGGACCCTACTTTTGAGAAATCT ACGTTTCCCAAGTTTTATGGGAACTGGCTATTCCTTGTCCCGGCACACCTTCTCATTCCTTCCTTTCAGAGCCTAAAACCTCATTTGATAAGCACTCCTAGTCTCTGGCCTGTGGATCCAGTGCTATTCTGTCACCAACCTAAGAATCCC AATTGCACCTTCTGTTTCTGACAGTCACAGGTGACAGCTGTGATTCTATAATACAGACTGGTGTCTTAGAGGTAGGAATAATACATGATTATGAAGCATCACCCTGCTAATACATAATAATGTCTTTTTATATTATAAGTGATTGAGTTT AGTTCATTTCAATACATTGTACATGAAAAAATGAAAAGTAGAACTTTGTAATACTTTAATCAATAAAATTAATTACCAAA |
| N-Truncated Transcript (5UTR-3CDS) Sequences |
| C-Truncated Transcript (5CDS-3UTR) Sequences |
Top |
Fusion Protein Sequence for ELP3_MYO5C |
| In-frame Fusion Protein Sequences. |
>ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840 length=716nt MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840 length=610nt MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000521015_ENST00000261839_28016150_52500840 length=467nt MVAPVLETSHVFCCPNRVRGVLNWSSGPRGLLAFGTSCSVVLYDPLKRVVVTNLNGHTARVNCIQWICKQDGSPSTELVSGGSDNQVIHWEIEDNQLLKAVHLQGHEGPVYAVHAVYQRRTSDPALCTLIVSAAADSAVRLWSKKGPEVP ILACGNDDCRIHIFAQQNDQFQKVLSLCGHEDWIRGVEWAAFGRDLFLASCSQDCLIRIWKLYIKSTSLETQDDDNIRLKENTFTIENESVKIAFAVTLETVLAGHENWVNAVHWQPVFYKDGVLQQPVRLLSASMDKTMILWAPDEESG VWLEQREWTPEIVISGHFDGVQDLVWDPEGEFIITVGTDQTTRLFAPWKRKDQSQVTWHEIARPQIHGYDLKCLAMINRFQFVSGADEKVLRVFSAPRNFVENFCAITGQSLNHVLCNEYKRKLARVSLVRKELRSRIQSLPDLSRLPNV TGSHMHLPFAGDIYSED >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840 length=610nt MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840 length=724nt MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840 length=747nt MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL |
| N-Truncated Protein (5UTR-3CDS) Sequences |
| C-Truncated Protein (5CDS-3UTR) Sequences |
Top |
Personalized Fusion Protein Sequence for ELP3_MYO5C |
| TCGA Kinase/DNA-binding Domain Mutated Fusion Protein Sequences |
| Num | Gene Group | Domain Loci | Fusion Protein ID | Fusion Gene Name | Partner | Mutated Residue in WT Protein | Seq. Length | Mutated Residue in Fusion Protein |
| CCLE Kinase/DNA-binding Domain Mutated Fusion Protein Sequences |
| Num | Gene Group | Domain Loci | Fusion Protein ID | Fusion Gene Name | Partner | Mutated Residue in WT Protein | Seq. Length | Mutated Residue in Fusion Protein |
| TCGA All Mutated Fusion Protein Sequences |
>ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.D1707N_716_D681N length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLNTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.D1700N_716_D674N length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSRENSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.L1489I;p.R1536H_716_L463I;R510H length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQIISDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKHSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.R1536C_716_R510C length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKCSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.T1715A_716_T689A length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVAFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.R1657C_716_R631C length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYECCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.N1609T_716_N583T length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCTISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.P1510L_716_P484L length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQLIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.S1733G_716_S707G length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSGFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.G1524D_716_G498D length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQDISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.F1738V_716_F712V length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGVLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.P1510L_716_P484L length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQLIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.L1571F_716_L545F length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPEFVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.D1596N_716_D570N length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKNMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.K1735R_716_K709R length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFRLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.N1671D_716_N645D length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILDSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.K1652N_716_K626N length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDANEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.P1717S_716_P691S length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFSFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.R1601K_716_R575K length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCKKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.L1634I_716_L608I length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPISQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.R1689C_716_R663C length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVCKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.R1495Q_716_R469Q length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIQIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.G1460R_716_G434R length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSREEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.E1520D_716_E494D length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYDSLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.P1722Q_716_P696Q length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSQHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.E1614K_716_E588K length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLKEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.D1650N_716_D624N length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSNAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.P1675L_716_P649L length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTLIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.E1570K_716_E544K length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPKLVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.R1495Q_716_R469Q length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIQIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.V1551I_716_V525I length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSILQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.P1470T_716_P444T length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSTQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.A1638V_716_A612V length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAVWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.T1647I_716_T621I length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTIDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.R1682T_716_R656T length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKTVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.Y1497D_716_Y471D length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIDHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.G1566S_716_G540S length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNSLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000256398_ENST00000261839_28016150_52500840_3-gene_p.T1708I_716_T682I length=716AA MMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVD KVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPD GLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNC LNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSL AKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDIKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.D1707N_610_D575N length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLNTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.D1700N_610_D568N length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSRENSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.L1489I;p.R1536H_610_L357I;R404H length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQIISDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKHSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.R1536C_610_R404C length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKCSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.T1715A_610_T583A length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVAFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.R1657C_610_R525C length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYECCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.N1609T_610_N477T length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCTISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.P1510L_610_P378L length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQLIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.S1733G_610_S601G length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS GFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.G1524D_610_G392D length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQDISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.F1738V_610_F606V length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGVLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.P1510L_610_P378L length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQLIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.L1571F_610_L439F length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPEFVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.D1596N_610_D464N length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKNMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.K1735R_610_K603R length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFRLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.N1671D_610_N539D length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILDSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.K1652N_610_K520N length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDANEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.P1717S_610_P585S length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFSFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.R1601K_610_R469K length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCKKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.L1634I_610_L502I length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPISQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.R1689C_610_R557C length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVCKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.R1495Q_610_R363Q length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIQIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.G1460R_610_G328R length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSREEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.E1520D_610_E388D length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYDSLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.P1722Q_610_P590Q length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSQHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.E1614K_610_E482K length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLKEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.D1650N_610_D518N length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSNAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.P1675L_610_P543L length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTLIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.E1570K_610_E438K length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPKLVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.R1495Q_610_R363Q length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIQIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.V1551I_610_V419I length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSILQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.P1470T_610_P338T length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSTQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.A1638V_610_A506V length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAVWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.T1647I_610_T515I length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTIDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.R1682T_610_R550T length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKTVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.Y1497D_610_Y365D length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIDHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.G1566S_610_G434S length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNSLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000380353_ENST00000261839_28016150_52500840_3-gene_p.T1708I_610_T576I length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDIKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.D1707N_610_D575N length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLNTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.D1700N_610_D568N length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSRENSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.L1489I;p.R1536H_610_L357I;R404H length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQIISDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKHSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.R1536C_610_R404C length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKCSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.T1715A_610_T583A length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVAFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.R1657C_610_R525C length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYECCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.N1609T_610_N477T length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCTISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.P1510L_610_P378L length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQLIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.S1733G_610_S601G length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS GFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.G1524D_610_G392D length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQDISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.F1738V_610_F606V length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGVLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.P1510L_610_P378L length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQLIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.L1571F_610_L439F length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPEFVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.D1596N_610_D464N length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKNMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.K1735R_610_K603R length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFRLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.N1671D_610_N539D length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILDSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.K1652N_610_K520N length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDANEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.P1717S_610_P585S length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFSFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.R1601K_610_R469K length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCKKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.L1634I_610_L502I length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPISQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.R1689C_610_R557C length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVCKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.R1495Q_610_R363Q length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIQIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.G1460R_610_G328R length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSREEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.E1520D_610_E388D length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYDSLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.P1722Q_610_P590Q length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSQHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.E1614K_610_E482K length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLKEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.D1650N_610_D518N length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSNAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.P1675L_610_P543L length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTLIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.E1570K_610_E438K length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPKLVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.R1495Q_610_R363Q length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIQIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.V1551I_610_V419I length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSILQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.P1470T_610_P338T length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSTQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.A1638V_610_A506V length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAVWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.T1647I_610_T515I length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTIDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.R1682T_610_R550T length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKTVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.Y1497D_610_Y365D length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIDHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.G1566S_610_G434S length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNSLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000524103_ENST00000261839_28016150_52500840_3-gene_p.T1708I_610_T576I length=610AA MSTHQFYRKYMCPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCE SFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQ EHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFL IGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDIKYLFQVTFPFTPSPHALEMIQIPS SFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.D1707N_724_D689N length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLNTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.D1700N_724_D682N length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSRENSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.L1489I;p.R1536H_724_L471I;R518H length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQIISDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKHSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.R1536C_724_R518C length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKCSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.T1715A_724_T697A length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVAFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.R1657C_724_R639C length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYECCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.N1609T_724_N591T length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCTISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.P1510L_724_P492L length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQLIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.S1733G_724_S715G length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSGFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.G1524D_724_G506D length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQDISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.F1738V_724_F720V length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGVLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.P1510L_724_P492L length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQLIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.L1571F_724_L553F length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPEFVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.D1596N_724_D578N length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKNMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.K1735R_724_K717R length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFRLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.N1671D_724_N653D length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILDSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.K1652N_724_K634N length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDANEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.P1717S_724_P699S length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFSFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.R1601K_724_R583K length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCKKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.L1634I_724_L616I length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPISQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.R1689C_724_R671C length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVCKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.R1495Q_724_R477Q length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIQIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.G1460R_724_G442R length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSREEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.E1520D_724_E502D length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYDSLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.P1722Q_724_P704Q length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSQHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.E1614K_724_E596K length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLKEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.D1650N_724_D632N length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSNAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.P1675L_724_P657L length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTLIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.E1570K_724_E552K length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPKLVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.R1495Q_724_R477Q length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIQIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.V1551I_724_V533I length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSILQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.P1470T_724_P452T length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN STQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.A1638V_724_A620V length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAVWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.T1647I_724_T629I length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTIDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.R1682T_724_R664T length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKTVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.Y1497D_724_Y479D length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIDHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.G1566S_724_G548S length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNSLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000537665_ENST00000261839_28016150_52500840_3-gene_p.T1708I_724_T690I length=724AA MFCGCQLSPWSEFVAAFLSLVALLRRRRNEAEAERVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQL KQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFF ENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWLSNTCHFLNCLKQYSGEEEFMKHN SPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRKDMCSCRKGMQIRCNISYLEEWLK DKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDIKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.D1707N_747_D712N length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLNTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.D1700N_747_D705N length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSRENSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.L1489I;p.R1536H_747_L494I;R541H length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQIISDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKHSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.R1536C_747_R541C length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKCSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.T1715A_747_T720A length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVAFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.R1657C_747_R662C length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYECCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.N1609T_747_N614T length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCTISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.P1510L_747_P515L length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQLIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.S1733G_747_S738G length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSGFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.G1524D_747_G529D length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQDISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.F1738V_747_F743V length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGVLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.P1510L_747_P515L length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQLIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.L1571F_747_L576F length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPEFVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.D1596N_747_D601N length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK NMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.K1735R_747_K740R length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFRLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.N1671D_747_N676D length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILDSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.K1652N_747_K657N length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDANEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.P1717S_747_P722S length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFSFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.R1601K_747_R606K length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCKKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.L1634I_747_L639I length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPISQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.R1689C_747_R694C length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVCKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.R1495Q_747_R500Q length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIQIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.G1460R_747_G465R length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSREEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.E1520D_747_E525D length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYDSLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.P1722Q_747_P727Q length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSQHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.E1614K_747_E619K length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLKEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.D1650N_747_D655N length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSNAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.P1675L_747_P680L length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTLIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.E1570K_747_E575K length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPKLVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.R1495Q_747_R500Q length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIQIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.V1551I_747_V556I length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSILQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.P1470T_747_P475T length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSTQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.A1638V_747_A643V length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAVWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.T1647I_747_T652I length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTIDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.R1682T_747_R687T length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKTVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.Y1497D_747_Y502D length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIDHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.G1566S_747_G571S length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNSLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDTKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL >ELP3_MYO5C_ENST00000542181_ENST00000261839_28016150_52500840_3-gene_p.T1708I_747_T713I length=747AA MSLWLHFYLWWLCYGGAEMRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEP TSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVV AHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQEHLEDFEMLSFWL SNTCHFLNCLKQYSGEEEFMKHNSPQQNKNCLNNFDLSEYRQILSDVAIRIYHQFIIIMEKNIQPIIVPGMLEYESLQGISGLKPTGFRKRSSSIDDTDGYTMTSVLQQLSYFYTTMCQNGLDPELVRQAVKQLFFLIGAVTLNSLFLRK DMCSCRKGMQIRCNISYLEEWLKDKNLQNSLAKETLEPLSQAAWLLQVKKTTDSDAKEIYERCTSLSAVQIIKILNSYTPIDDFEKRVTPSFVRKVQALLNSREDSSQLMLDIKYLFQVTFPFTPSPHALEMIQIPSSFKLGFLNRL |
| Fusion Protein ID | Sample ID | Mutated Partner | AAchange in WT | Seq. Length | AAchange in Fusion |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-18-5595-01A | 3-gene | p.D1707N | 716 | D681N |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-21-1079-01A | 3-gene | p.D1700N | 716 | D674N |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-2W-A8YY-01A | 3-gene | p.L1489I;p.R1536H | 716 | L463I;R510H |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-3B-A9HL-01A | 3-gene | p.R1536C | 716 | R510C |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-A5-A0G2-01A | 3-gene | p.T1715A | 716 | T689A |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-AA-3994-01A | 3-gene | p.R1657C | 716 | R631C |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-AJ-A3EK-01A | 3-gene | p.N1609T | 716 | N583T |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-AJ-A3EL-01A | 3-gene | p.P1510L | 716 | P484L |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-AP-A051-01A | 3-gene | p.S1733G | 716 | S707G |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-AP-A059-01A | 3-gene | p.G1524D | 716 | G498D |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-B5-A11E-01A | 3-gene | p.F1738V | 716 | F712V |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-B5-A3FC-01A | 3-gene | p.P1510L | 716 | P484L |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-BG-A2L7-01A | 3-gene | p.L1571F | 716 | L545F |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-BH-A0BP-01A | 3-gene | p.D1596N | 716 | D570N |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-BJ-A0ZG-01A | 3-gene | p.K1735R | 716 | K709R |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-BR-8591-01A | 3-gene | p.N1671D | 716 | N645D |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-D1-A1NZ-01A | 3-gene | p.K1652N | 716 | K626N |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-D3-A2JF-06A | 3-gene | p.P1717S | 716 | P691S |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-EE-A29E-06A | 3-gene | p.R1601K | 716 | R575K |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-EE-A2MD-06A | 3-gene | p.L1634I | 716 | L608I |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-EE-A2MJ-06A | 3-gene | p.R1689C | 716 | R663C |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-EE-A3AE-06A | 3-gene | p.R1495Q | 716 | R469Q |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-EE-A3J5-06A | 3-gene | p.G1460R | 716 | G434R |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-EI-6508-01A | 3-gene | p.E1520D | 716 | E494D |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-EY-A215-01A | 3-gene | p.P1722Q | 716 | P696Q |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-FD-A43X-01A | 3-gene | p.E1614K | 716 | E588K |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-FD-A6TE-01A | 3-gene | p.D1650N | 716 | D624N |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-FF-A7CX-01A | 3-gene | p.P1675L | 716 | P649L |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-FS-A1ZW-06A | 3-gene | p.E1570K | 716 | E544K |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-FW-A3R5-06A | 3-gene | p.R1495Q | 716 | R469Q |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-G4-6304-01A | 3-gene | p.V1551I | 716 | V525I |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-GL-7773-01A | 3-gene | p.P1470T | 716 | P444T |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-NJ-A55R-01A | 3-gene | p.A1638V | 716 | A612V |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-RT-A6YA-01A | 3-gene | p.T1647I | 716 | T621I |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-T3-A92M-01A | 3-gene | p.R1682T | 716 | R656T |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-T3-A92N-01A | 3-gene | p.Y1497D | 716 | Y471D |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-VQ-A8PB-01A | 3-gene | p.G1566S | 716 | G540S |
| ENST00000256398_ENST00000261839_28016150_52500840 | TCGA-VQ-A8PP-01A | 3-gene | p.T1708I | 716 | T682I |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-18-5595-01A | 3-gene | p.D1707N | 610 | D575N |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-21-1079-01A | 3-gene | p.D1700N | 610 | D568N |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-2W-A8YY-01A | 3-gene | p.L1489I;p.R1536H | 610 | L357I;R404H |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-3B-A9HL-01A | 3-gene | p.R1536C | 610 | R404C |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-A5-A0G2-01A | 3-gene | p.T1715A | 610 | T583A |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-AA-3994-01A | 3-gene | p.R1657C | 610 | R525C |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-AJ-A3EK-01A | 3-gene | p.N1609T | 610 | N477T |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-AJ-A3EL-01A | 3-gene | p.P1510L | 610 | P378L |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-AP-A051-01A | 3-gene | p.S1733G | 610 | S601G |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-AP-A059-01A | 3-gene | p.G1524D | 610 | G392D |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-B5-A11E-01A | 3-gene | p.F1738V | 610 | F606V |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-B5-A3FC-01A | 3-gene | p.P1510L | 610 | P378L |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-BG-A2L7-01A | 3-gene | p.L1571F | 610 | L439F |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-BH-A0BP-01A | 3-gene | p.D1596N | 610 | D464N |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-BJ-A0ZG-01A | 3-gene | p.K1735R | 610 | K603R |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-BR-8591-01A | 3-gene | p.N1671D | 610 | N539D |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-D1-A1NZ-01A | 3-gene | p.K1652N | 610 | K520N |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-D3-A2JF-06A | 3-gene | p.P1717S | 610 | P585S |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-EE-A29E-06A | 3-gene | p.R1601K | 610 | R469K |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-EE-A2MD-06A | 3-gene | p.L1634I | 610 | L502I |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-EE-A2MJ-06A | 3-gene | p.R1689C | 610 | R557C |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-EE-A3AE-06A | 3-gene | p.R1495Q | 610 | R363Q |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-EE-A3J5-06A | 3-gene | p.G1460R | 610 | G328R |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-EI-6508-01A | 3-gene | p.E1520D | 610 | E388D |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-EY-A215-01A | 3-gene | p.P1722Q | 610 | P590Q |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-FD-A43X-01A | 3-gene | p.E1614K | 610 | E482K |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-FD-A6TE-01A | 3-gene | p.D1650N | 610 | D518N |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-FF-A7CX-01A | 3-gene | p.P1675L | 610 | P543L |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-FS-A1ZW-06A | 3-gene | p.E1570K | 610 | E438K |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-FW-A3R5-06A | 3-gene | p.R1495Q | 610 | R363Q |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-G4-6304-01A | 3-gene | p.V1551I | 610 | V419I |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-GL-7773-01A | 3-gene | p.P1470T | 610 | P338T |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-NJ-A55R-01A | 3-gene | p.A1638V | 610 | A506V |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-RT-A6YA-01A | 3-gene | p.T1647I | 610 | T515I |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-T3-A92M-01A | 3-gene | p.R1682T | 610 | R550T |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-T3-A92N-01A | 3-gene | p.Y1497D | 610 | Y365D |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-VQ-A8PB-01A | 3-gene | p.G1566S | 610 | G434S |
| ENST00000380353_ENST00000261839_28016150_52500840 | TCGA-VQ-A8PP-01A | 3-gene | p.T1708I | 610 | T576I |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-18-5595-01A | 3-gene | p.D1707N | 610 | D575N |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-21-1079-01A | 3-gene | p.D1700N | 610 | D568N |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-2W-A8YY-01A | 3-gene | p.L1489I;p.R1536H | 610 | L357I;R404H |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-3B-A9HL-01A | 3-gene | p.R1536C | 610 | R404C |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-A5-A0G2-01A | 3-gene | p.T1715A | 610 | T583A |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-AA-3994-01A | 3-gene | p.R1657C | 610 | R525C |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-AJ-A3EK-01A | 3-gene | p.N1609T | 610 | N477T |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-AJ-A3EL-01A | 3-gene | p.P1510L | 610 | P378L |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-AP-A051-01A | 3-gene | p.S1733G | 610 | S601G |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-AP-A059-01A | 3-gene | p.G1524D | 610 | G392D |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-B5-A11E-01A | 3-gene | p.F1738V | 610 | F606V |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-B5-A3FC-01A | 3-gene | p.P1510L | 610 | P378L |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-BG-A2L7-01A | 3-gene | p.L1571F | 610 | L439F |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-BH-A0BP-01A | 3-gene | p.D1596N | 610 | D464N |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-BJ-A0ZG-01A | 3-gene | p.K1735R | 610 | K603R |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-BR-8591-01A | 3-gene | p.N1671D | 610 | N539D |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-D1-A1NZ-01A | 3-gene | p.K1652N | 610 | K520N |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-D3-A2JF-06A | 3-gene | p.P1717S | 610 | P585S |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-EE-A29E-06A | 3-gene | p.R1601K | 610 | R469K |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-EE-A2MD-06A | 3-gene | p.L1634I | 610 | L502I |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-EE-A2MJ-06A | 3-gene | p.R1689C | 610 | R557C |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-EE-A3AE-06A | 3-gene | p.R1495Q | 610 | R363Q |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-EE-A3J5-06A | 3-gene | p.G1460R | 610 | G328R |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-EI-6508-01A | 3-gene | p.E1520D | 610 | E388D |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-EY-A215-01A | 3-gene | p.P1722Q | 610 | P590Q |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-FD-A43X-01A | 3-gene | p.E1614K | 610 | E482K |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-FD-A6TE-01A | 3-gene | p.D1650N | 610 | D518N |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-FF-A7CX-01A | 3-gene | p.P1675L | 610 | P543L |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-FS-A1ZW-06A | 3-gene | p.E1570K | 610 | E438K |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-FW-A3R5-06A | 3-gene | p.R1495Q | 610 | R363Q |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-G4-6304-01A | 3-gene | p.V1551I | 610 | V419I |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-GL-7773-01A | 3-gene | p.P1470T | 610 | P338T |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-NJ-A55R-01A | 3-gene | p.A1638V | 610 | A506V |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-RT-A6YA-01A | 3-gene | p.T1647I | 610 | T515I |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-T3-A92M-01A | 3-gene | p.R1682T | 610 | R550T |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-T3-A92N-01A | 3-gene | p.Y1497D | 610 | Y365D |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-VQ-A8PB-01A | 3-gene | p.G1566S | 610 | G434S |
| ENST00000524103_ENST00000261839_28016150_52500840 | TCGA-VQ-A8PP-01A | 3-gene | p.T1708I | 610 | T576I |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-18-5595-01A | 3-gene | p.D1707N | 724 | D689N |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-21-1079-01A | 3-gene | p.D1700N | 724 | D682N |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-2W-A8YY-01A | 3-gene | p.L1489I;p.R1536H | 724 | L471I;R518H |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-3B-A9HL-01A | 3-gene | p.R1536C | 724 | R518C |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-A5-A0G2-01A | 3-gene | p.T1715A | 724 | T697A |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-AA-3994-01A | 3-gene | p.R1657C | 724 | R639C |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-AJ-A3EK-01A | 3-gene | p.N1609T | 724 | N591T |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-AJ-A3EL-01A | 3-gene | p.P1510L | 724 | P492L |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-AP-A051-01A | 3-gene | p.S1733G | 724 | S715G |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-AP-A059-01A | 3-gene | p.G1524D | 724 | G506D |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-B5-A11E-01A | 3-gene | p.F1738V | 724 | F720V |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-B5-A3FC-01A | 3-gene | p.P1510L | 724 | P492L |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-BG-A2L7-01A | 3-gene | p.L1571F | 724 | L553F |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-BH-A0BP-01A | 3-gene | p.D1596N | 724 | D578N |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-BJ-A0ZG-01A | 3-gene | p.K1735R | 724 | K717R |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-BR-8591-01A | 3-gene | p.N1671D | 724 | N653D |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-D1-A1NZ-01A | 3-gene | p.K1652N | 724 | K634N |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-D3-A2JF-06A | 3-gene | p.P1717S | 724 | P699S |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-EE-A29E-06A | 3-gene | p.R1601K | 724 | R583K |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-EE-A2MD-06A | 3-gene | p.L1634I | 724 | L616I |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-EE-A2MJ-06A | 3-gene | p.R1689C | 724 | R671C |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-EE-A3AE-06A | 3-gene | p.R1495Q | 724 | R477Q |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-EE-A3J5-06A | 3-gene | p.G1460R | 724 | G442R |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-EI-6508-01A | 3-gene | p.E1520D | 724 | E502D |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-EY-A215-01A | 3-gene | p.P1722Q | 724 | P704Q |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-FD-A43X-01A | 3-gene | p.E1614K | 724 | E596K |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-FD-A6TE-01A | 3-gene | p.D1650N | 724 | D632N |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-FF-A7CX-01A | 3-gene | p.P1675L | 724 | P657L |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-FS-A1ZW-06A | 3-gene | p.E1570K | 724 | E552K |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-FW-A3R5-06A | 3-gene | p.R1495Q | 724 | R477Q |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-G4-6304-01A | 3-gene | p.V1551I | 724 | V533I |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-GL-7773-01A | 3-gene | p.P1470T | 724 | P452T |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-NJ-A55R-01A | 3-gene | p.A1638V | 724 | A620V |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-RT-A6YA-01A | 3-gene | p.T1647I | 724 | T629I |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-T3-A92M-01A | 3-gene | p.R1682T | 724 | R664T |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-T3-A92N-01A | 3-gene | p.Y1497D | 724 | Y479D |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-VQ-A8PB-01A | 3-gene | p.G1566S | 724 | G548S |
| ENST00000537665_ENST00000261839_28016150_52500840 | TCGA-VQ-A8PP-01A | 3-gene | p.T1708I | 724 | T690I |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-18-5595-01A | 3-gene | p.D1707N | 747 | D712N |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-21-1079-01A | 3-gene | p.D1700N | 747 | D705N |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-2W-A8YY-01A | 3-gene | p.L1489I;p.R1536H | 747 | L494I;R541H |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-3B-A9HL-01A | 3-gene | p.R1536C | 747 | R541C |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-A5-A0G2-01A | 3-gene | p.T1715A | 747 | T720A |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-AA-3994-01A | 3-gene | p.R1657C | 747 | R662C |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-AJ-A3EK-01A | 3-gene | p.N1609T | 747 | N614T |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-AJ-A3EL-01A | 3-gene | p.P1510L | 747 | P515L |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-AP-A051-01A | 3-gene | p.S1733G | 747 | S738G |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-AP-A059-01A | 3-gene | p.G1524D | 747 | G529D |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-B5-A11E-01A | 3-gene | p.F1738V | 747 | F743V |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-B5-A3FC-01A | 3-gene | p.P1510L | 747 | P515L |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-BG-A2L7-01A | 3-gene | p.L1571F | 747 | L576F |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-BH-A0BP-01A | 3-gene | p.D1596N | 747 | D601N |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-BJ-A0ZG-01A | 3-gene | p.K1735R | 747 | K740R |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-BR-8591-01A | 3-gene | p.N1671D | 747 | N676D |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-D1-A1NZ-01A | 3-gene | p.K1652N | 747 | K657N |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-D3-A2JF-06A | 3-gene | p.P1717S | 747 | P722S |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-EE-A29E-06A | 3-gene | p.R1601K | 747 | R606K |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-EE-A2MD-06A | 3-gene | p.L1634I | 747 | L639I |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-EE-A2MJ-06A | 3-gene | p.R1689C | 747 | R694C |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-EE-A3AE-06A | 3-gene | p.R1495Q | 747 | R500Q |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-EE-A3J5-06A | 3-gene | p.G1460R | 747 | G465R |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-EI-6508-01A | 3-gene | p.E1520D | 747 | E525D |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-EY-A215-01A | 3-gene | p.P1722Q | 747 | P727Q |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-FD-A43X-01A | 3-gene | p.E1614K | 747 | E619K |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-FD-A6TE-01A | 3-gene | p.D1650N | 747 | D655N |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-FF-A7CX-01A | 3-gene | p.P1675L | 747 | P680L |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-FS-A1ZW-06A | 3-gene | p.E1570K | 747 | E575K |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-FW-A3R5-06A | 3-gene | p.R1495Q | 747 | R500Q |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-G4-6304-01A | 3-gene | p.V1551I | 747 | V556I |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-GL-7773-01A | 3-gene | p.P1470T | 747 | P475T |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-NJ-A55R-01A | 3-gene | p.A1638V | 747 | A643V |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-RT-A6YA-01A | 3-gene | p.T1647I | 747 | T652I |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-T3-A92M-01A | 3-gene | p.R1682T | 747 | R687T |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-T3-A92N-01A | 3-gene | p.Y1497D | 747 | Y502D |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-VQ-A8PB-01A | 3-gene | p.G1566S | 747 | G571S |
| ENST00000542181_ENST00000261839_28016150_52500840 | TCGA-VQ-A8PP-01A | 3-gene | p.T1708I | 747 | T713I |
| CCLE All Mutated Fusion Protein Sequences |
| Fusion Protein ID | Sample ID | Mutated Partner | AAchange in WT | Seq. Length | AAchange in Fusion |
Top |
Fusion Gene Exprssed Samples for ELP3_MYO5C |
| RNA-seq based fusion gene expressed samples. |
| Source | Study | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB | HNSC | TCGA-CV-7430-01A | ELP3 | chr8 | 28016150 | + | MYO5C | chr15 | 52500840 | - | |
| ChimerDB | HNSC | TCGA-CV-7430 | ELP3 | chr8 | 28016150 | + | MYO5C | chr15 | 52500840 | - | |
| WashU | HNSC | TCGA-CV-7430-01A | ELP3 | chr8 | 28016150 | + | MYO5C | chr15 | 52500840 | - | |
| cBioPortal | HNSC_TCGA_PAN_CAN_ATLAS_2018 | HNSC | TCGA-CV-7430-01 | ELP3 | chr8 | 28158633 | MYO5C | chr15 | 52208643 |
| DNA-seq based fusion gene expressed samples. |
| Source | Study | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | SV type |
Top |
Related Drugs for ELP3_MYO5C |
| PubMed Abstract Search With ['A-B' AND 'drug'], ['A::B' AND 'drug'] * For more details on the Studied, Reported, Approved Drugs targeting this fusion gene, Go to FusionPub. |
| PMID | Fusion Gene Name | Drug | Study Title |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies