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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:VPS13B-GMDS (FusionGDB2 ID:98276) |
Fusion Gene Summary for VPS13B-GMDS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: VPS13B-GMDS | Fusion gene ID: 98276 | Hgene | Tgene | Gene symbol | VPS13B | GMDS | Gene ID | 157680 | 2762 |
| Gene name | vacuolar protein sorting 13 homolog B | GDP-mannose 4,6-dehydratase | |
| Synonyms | CHS1|COH1 | GMD|SDR3E1 | |
| Cytomap | 8q22.2 | 6p25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | vacuolar protein sorting-associated protein 13B | GDP-mannose 4,6 dehydrataseGDP-D-mannose dehydrataseshort chain dehydrogenase/reductase family 3E, member 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | O60547 | |
| Ensembl transtripts involved in fusion gene | ENST00000395996, ENST00000357162, ENST00000358544, ENST00000355155, ENST00000441350, ENST00000521932, | ENST00000380815, ENST00000530927, ENST00000467288, | |
| Fusion gene scores | * DoF score | 43 X 36 X 17=26316 | 14 X 10 X 8=1120 |
| # samples | 50 | 15 | |
| ** MAII score | log2(50/26316*10)=-5.71786831273266 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/1120*10)=-2.90046432644909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: VPS13B [Title/Abstract] AND GMDS [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | VPS13B(100844880)-GMDS(1742820), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | VPS13B-GMDS seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. VPS13B-GMDS seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| 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 |
| Tgene | GMDS | GO:0019673 | GDP-mannose metabolic process | 9525924 |
| Tgene | GMDS | GO:0042351 | 'de novo' GDP-L-fucose biosynthetic process | 9525924 |
| Fusion gene breakpoints across VPS13B (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across GMDS (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BRCA | TCGA-C8-A3M8-01A | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| ChimerDB4 | BRCA | TCGA-C8-A3M8-01A | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| ChimerDB4 | BRCA | TCGA-C8-A3M8-01A | VPS13B | chr8 | 100844880 | - | GMDS | chr6 | 1742820 | - |
| ChimerDB4 | BRCA | TCGA-C8-A3M8-01A | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
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Fusion Gene ORF analysis for VPS13B-GMDS |
| 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 |
| 3UTR-3CDS | ENST00000395996 | ENST00000380815 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| 3UTR-3CDS | ENST00000395996 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| 3UTR-3CDS | ENST00000395996 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| 3UTR-3CDS | ENST00000395996 | ENST00000530927 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| 3UTR-3CDS | ENST00000395996 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| 3UTR-3CDS | ENST00000395996 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| 3UTR-intron | ENST00000395996 | ENST00000467288 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| 3UTR-intron | ENST00000395996 | ENST00000467288 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| 3UTR-intron | ENST00000395996 | ENST00000467288 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| 5CDS-intron | ENST00000357162 | ENST00000467288 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| 5CDS-intron | ENST00000357162 | ENST00000467288 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| 5CDS-intron | ENST00000357162 | ENST00000467288 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| 5CDS-intron | ENST00000358544 | ENST00000467288 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| 5CDS-intron | ENST00000358544 | ENST00000467288 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| 5CDS-intron | ENST00000358544 | ENST00000467288 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| Frame-shift | ENST00000357162 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| Frame-shift | ENST00000357162 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| Frame-shift | ENST00000358544 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| Frame-shift | ENST00000358544 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| In-frame | ENST00000357162 | ENST00000380815 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| In-frame | ENST00000357162 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| In-frame | ENST00000357162 | ENST00000530927 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| In-frame | ENST00000357162 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| In-frame | ENST00000358544 | ENST00000380815 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| In-frame | ENST00000358544 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| In-frame | ENST00000358544 | ENST00000530927 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| In-frame | ENST00000358544 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| intron-3CDS | ENST00000355155 | ENST00000380815 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| intron-3CDS | ENST00000355155 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| intron-3CDS | ENST00000355155 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| intron-3CDS | ENST00000355155 | ENST00000530927 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| intron-3CDS | ENST00000355155 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| intron-3CDS | ENST00000355155 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| intron-3CDS | ENST00000441350 | ENST00000380815 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| intron-3CDS | ENST00000441350 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| intron-3CDS | ENST00000441350 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| intron-3CDS | ENST00000441350 | ENST00000530927 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| intron-3CDS | ENST00000441350 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| intron-3CDS | ENST00000441350 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| intron-3CDS | ENST00000521932 | ENST00000380815 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| intron-3CDS | ENST00000521932 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| intron-3CDS | ENST00000521932 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| intron-3CDS | ENST00000521932 | ENST00000530927 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| intron-3CDS | ENST00000521932 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| intron-3CDS | ENST00000521932 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| intron-intron | ENST00000355155 | ENST00000467288 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| intron-intron | ENST00000355155 | ENST00000467288 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| intron-intron | ENST00000355155 | ENST00000467288 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| intron-intron | ENST00000441350 | ENST00000467288 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| intron-intron | ENST00000441350 | ENST00000467288 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| intron-intron | ENST00000441350 | ENST00000467288 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| intron-intron | ENST00000521932 | ENST00000467288 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - |
| intron-intron | ENST00000521932 | ENST00000467288 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - |
| intron-intron | ENST00000521932 | ENST00000467288 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1742820 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000358544 | VPS13B | chr8 | 100844880 | + | ENST00000530927 | GMDS | chr6 | 1726746 | - | 10392 | 9800 | 111 | 10028 | 3305 |
| ENST00000358544 | VPS13B | chr8 | 100844880 | + | ENST00000380815 | GMDS | chr6 | 1726746 | - | 10392 | 9800 | 111 | 10028 | 3305 |
| ENST00000357162 | VPS13B | chr8 | 100844880 | + | ENST00000530927 | GMDS | chr6 | 1726746 | - | 10317 | 9725 | 111 | 9953 | 3280 |
| ENST00000357162 | VPS13B | chr8 | 100844880 | + | ENST00000380815 | GMDS | chr6 | 1726746 | - | 10317 | 9725 | 111 | 9953 | 3280 |
| ENST00000358544 | VPS13B | chr8 | 100836206 | + | ENST00000530927 | GMDS | chr6 | 1742820 | - | 10227 | 9516 | 111 | 9863 | 3250 |
| ENST00000358544 | VPS13B | chr8 | 100836206 | + | ENST00000380815 | GMDS | chr6 | 1742820 | - | 10227 | 9516 | 111 | 9863 | 3250 |
| ENST00000357162 | VPS13B | chr8 | 100836206 | + | ENST00000530927 | GMDS | chr6 | 1742820 | - | 10152 | 9441 | 111 | 9788 | 3225 |
| ENST00000357162 | VPS13B | chr8 | 100836206 | + | ENST00000380815 | GMDS | chr6 | 1742820 | - | 10152 | 9441 | 111 | 9788 | 3225 |
| 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 | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000358544 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - | 0.000367832 | 0.9996321 |
| ENST00000358544 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - | 0.000367832 | 0.9996321 |
| ENST00000357162 | ENST00000530927 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - | 0.000387647 | 0.9996124 |
| ENST00000357162 | ENST00000380815 | VPS13B | chr8 | 100844880 | + | GMDS | chr6 | 1726746 | - | 0.000387647 | 0.9996124 |
| ENST00000358544 | ENST00000530927 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - | 0.000282418 | 0.99971753 |
| ENST00000358544 | ENST00000380815 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - | 0.000282418 | 0.99971753 |
| ENST00000357162 | ENST00000530927 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - | 0.000300245 | 0.99969983 |
| ENST00000357162 | ENST00000380815 | VPS13B | chr8 | 100836206 | + | GMDS | chr6 | 1742820 | - | 0.000300245 | 0.99969983 |
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Fusion Genomic Features for VPS13B-GMDS |
| 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). 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) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
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| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for VPS13B-GMDS |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:100844880/chr6:1742820) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | GMDS |
| FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Catalyzes the conversion of GDP-D-mannose to GDP-4-dehydro-6-deoxy-D-mannose. {ECO:0000269|PubMed:9525924}. |
| 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 * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - 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 |
| Tgene | GMDS | chr8:100836206 | chr6:1742820 | ENST00000380815 | 6 | 11 | 108_112 | 257 | 373.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100836206 | chr6:1742820 | ENST00000380815 | 6 | 11 | 30_35 | 257 | 373.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100836206 | chr6:1742820 | ENST00000380815 | 6 | 11 | 55_58 | 257 | 373.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100836206 | chr6:1742820 | ENST00000380815 | 6 | 11 | 86_87 | 257 | 373.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100836206 | chr6:1742820 | ENST00000530927 | 6 | 11 | 108_112 | 227 | 343.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100836206 | chr6:1742820 | ENST00000530927 | 6 | 11 | 30_35 | 227 | 343.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100836206 | chr6:1742820 | ENST00000530927 | 6 | 11 | 55_58 | 227 | 343.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100836206 | chr6:1742820 | ENST00000530927 | 6 | 11 | 86_87 | 227 | 343.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100844880 | chr6:1726746 | ENST00000380815 | 7 | 11 | 108_112 | 296 | 373.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100844880 | chr6:1726746 | ENST00000380815 | 7 | 11 | 30_35 | 296 | 373.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100844880 | chr6:1726746 | ENST00000380815 | 7 | 11 | 55_58 | 296 | 373.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100844880 | chr6:1726746 | ENST00000380815 | 7 | 11 | 86_87 | 296 | 373.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100844880 | chr6:1726746 | ENST00000530927 | 7 | 11 | 108_112 | 266 | 343.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100844880 | chr6:1726746 | ENST00000530927 | 7 | 11 | 30_35 | 266 | 343.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100844880 | chr6:1726746 | ENST00000530927 | 7 | 11 | 55_58 | 266 | 343.0 | Nucleotide binding | NADP | |
| Tgene | GMDS | chr8:100844880 | chr6:1726746 | ENST00000530927 | 7 | 11 | 86_87 | 266 | 343.0 | Nucleotide binding | NADP |
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Fusion Gene Sequence for VPS13B-GMDS |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >98276_98276_1_VPS13B-GMDS_VPS13B_chr8_100836206_ENST00000357162_GMDS_chr6_1742820_ENST00000380815_length(transcript)=10152nt_BP=9441nt GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGATGACCATGAAAGCTGTGGTTCTAATTCTACCAACCGTAGTACTGCT GAGAGCACAAAATCATCAATCAAACCGCGGAGAATGCAGCAGGCTGCTCCTACAGATCCTGACTTACCACCAGGTTATGTGCAGAGTCTG ATTAGACGAGTTGTAAATAATGTAAACATTGTGATAAATAATCTCATACTAAAATATGTTGAAGATGATATCGTCCTTTCCGTCAATATC ACTTCTGCAGAATGTTATACAGTAGGTGAATTATGGGATCGTGCATTCATGGATATTTCTGCAACTGATTTGGTGCTGAGAAAGGTTATC AATTTTTCTGACTGTACAGTTTGTCTTGATAAACGGAATGCCAGTGGTAAAATAGAATTTTACCAGGATCCTTTATTATACAAATGTTCC TTCAGAACTCGTCTTCATTTTACATATGAAAACCTAAATTCCAAGATGCCATCTGTTATTAAAATTCATACTTTAGTGGAAAGTTTGAAA CTTTCTATCACAGATCAACAACTGCCTATGTTTATTCGTATAATGCAACTTGGAATTGCTCTTTACTATGGAGAAATAGGCAATTTTAAA GAAGGCGAAATAGAGGACCTTACTTGTCATAATAAAGATATGCTAGGAAACATTACAGGTTCTGAAGATGAAACAAGAATAGATATGCAA TATCCTGCTCAGCATAAAGGTCAAGAGTTATATTCACAGCAAGATGAGGAGCAGCCACAGGGATGGGTGTCATGGGCCTGGTCCTTTGTG CCTGCAATTGTGAGTTATGACGATGGCGAGGAAGACTTTGTTGGGAACGATCCTGCATCAACCATGCATCAACAAAAAGCACAGACTTTG AAGGATCCTATTGTTTCTATAGGATTTTATTGCACAAAGGCAACGGTGACTTTCAAACTCACAGAAATGCAAGTTGAGAGTAGTTATTAC AGTCCACAGAAAGTAAAATCTAAAGAAGTATTGTGTTGGGAACAAGAAGGAACTACAGTTGAGGCCCTTATGATGGGAGAACCTTTCTTT GATTGCCAGATTGGGTTTGTTGGTTGCAGAGCCATGTGCCTTAAAGGAATTATGGGTGTTAAAGATTTTGAAGAGAATATGAATAGAAGT GAAACTGAAGCCTGTTTCTTCATTTGTGGTGACAATTTGAGTACGAAAGGTTTCACATACCTTACAAATTCATTGTTTGATTACCGAAGC CCAGAAAATAATGGTACTCGCGCAGAATTTATCTTGGATTCAACTCATCATAAGGAGACATACACTGAGATAGCTGGAATGCAACGGTTT GGGGCTTTTTATATGGATTACCTGTATACAATGGAGAACACTAGTGGCAAAGGTTCCACAAATCAACAAGACTTTTCTTCAGGGAAAAGT GAAGATTTGGGAACAGTTCAGGAGAAGTCCACCAAAAGCCTTGTTATAGGTCCTCTTGATTTTCGTTTGGATAGCAGTGCGGTGCATAGG ATTTTGAAAATGATTGTGTGTGCCTTGGAACATGAATATGAACCATATAGCAGGCTAAAATCAGATATTAAGGATGAAAATGAAACAATA CTGAATCCTGAAGAGGTGGCTCTTCTGGAGGAATATATTCCTACTCGACATACAAGTGTTACTCTCCTCAAATGTACCTGCACAATTTCC ATGGCTGAATTCAACTTGCTGGACCATTTACTACCTGTCATTATGGGAGAAAAGAACTCAAGTAACTTCATGAATACTACAAACTTCCAG TCTCTTCGGCCTTTGCCATCCATTCGAATATTGGTGGATAAAATTAATCTGGAACATTCAGTGCCAATGTATGCTGAACAGTTGGTGCAT GTGGTCAGCAGCCTTACTCAACCTTCTGATAACCTGCTTCATTATTGTTATGTACACTGCTATCTTAAGATATTTGGTTTCCAGGCAGGA CTGACGTCTTTGGATTGCAGTGGATCTTACTGCTTACCTGTACCAGTTATTCCCTCTTTCAGCACTGCTCTTTATGGGAAACTTCTGAAA CTCCCCACATGCTGGACCAAAAGATCTCAGATTGCTATAACTGAAGGTATATTTGAACTTCCAAATCTCACAATTCAAGCTACAAGAGCA CAGACACTTCTCTTGCAAGCAATATATCAAAGTTGGTCTCATCTTGGAAATGTCAGCTCTTCCGCAGTGATTGAAGCTTTGATAAATGAA ATCTTCCTAAGTATAGGTGTGAAATCTAAGAATCCCCTGCCAACTCTTGAGGGCTCAATCCAGAATGTTGAATTGAAGTACTGCAGCACA TCATTGGTCAAATGTGCCTCTGGGACCATGGGATCAATAAAAATTTGTGCCAAAGCCCCAGTTGATAGTGGAAAAGAGAAGTTGATTCCC TTGCTTCAGGGTCCTTCTGACACTAAAGACCTTCATAGCACCAAGTGGCTCAATGAGAGTAGAAAGCCAGAGTCTCTCTTAGCTCCAGAT TTGATGGCCTTCACAATCCAAGTTCCACAATATATTGACTACTGCCACAATTCCGGTGCTGTACTTCTTTGCAGTATACAAGGACTAGCA GTTAATATTGACCCAATCTTATATACGTGGCTCATCTATCAGCCTCAGAAACGAACAAGTAGACATATGCAACAGCAGCCTGTGGTAGCT GTTCCTCTTGTTATGCCAGTTTGTAGAAGGAAAGAGGATGAGGTGTCTATTGGAAGTGCCCCCTTGGCAAAGCAGCAATCATATCAGGCC TCTGAATATGCCAGCAGCCCTGTAAAAACAAAAACGGTAACAGAATCCCGCCCATTGTCAGTTCCTGTTAAAGCCATGTTGAATATATCT GAAAGCTGTAGAAGTCCTGAAGAAAGAATGAAGGAATTTATTGGAATTGTTTGGAATGCAGTGAAGCATCTCACACTACAGCTTGAAGTA CAATCTTGTTGTGTGTTTATTCCAAATGATAGCCTGCCTTCCCCAAGTACAATTGTATCTGGTGACATTCCTGGAACAGTAAGAAGTTGG TACCATGGACAAACCAGCATGCCGGGAACACTTGTCCTCTGTTTGCCTCAAATAAAGATTATTAGTGCTGGGCACAAGTATATGGAACCT CTGCAGGAGATTCCATTTGTTATCCCACGACCCATCCTTGAAGAAGGTGATGCTTTTCCTTGGACGATCAGCTTGCATAATTTCAGCATA TATACCCTTCTTGGAAAACAAGTGACACTTTGCCTAGTGGAACCTATGGGTTGCACCTCCACTCTAGCTGTCACGTCTCAAAAACTGCTT GCTACGGGACCTGATACACGACATTCATTTGTTGTCTGTCTCCATGTTGACCTAGAGTCACTAGAGATAAAATGCTCTAATCCCCAGGTC CAGCTCTTCTATGAACTAACTGATATCATGAATAAGGTCTGGAACAAGATTCAGAAGAGAGGCAATCTCAACCTATCTCCAACCTCTCCA GAGACCATGGCAGGGCCTGTTCCTACTTCTCCAGTTAGAAGCAGTATAGGCACAGCTCCTCCAGATACCAGCACATGCAGCCCATCTGCT GACATTGGGACTACTACTGAGGGAGATTCTATACAAGCAGGTGAGGAATCACCATTCTCAGATTCTGTGACCTTGGAACAAACTACAAGT AATATTGGAGGAACCAGTGGACGTGTTAGTTTATGGATGCAGTGGGTGCTTCCCAAAATTACTATAAAGCTCTTTGCTCCAGATCCTGAA AATAAAGGCACAGAGGTTTGTATGGTCAGTGAACTAGAAGATCTCAGTGCTTCCATAGATGTCCAGGATGTATATACCAAAGTGAAATGT AAAATAGAGAGTTTCAATATTGATCACTATAGAAGCAGGCCAGGGGAAGGTTGGCAGTCAGGACATTTTGAAGGAGTATTTCTACAATGC AAAGAAAAATCTGTGACAACTACAAAACTTCTAGATGGCACTCATCAGCAGCATGGATTCCTCTCTCTGACATACACAAAAGCTGTAACA AAAAATGTCCGCCACAAGTTAACATCAAGAAATGAGCGAAGAAGTTTTCATAAGTTATCTGAAGGCCTAATGGATGGTTCTCCTCATTTT CTTCATGAAATTCTTCTTTCAGCACAAGCTTTTGATATTGTTCTTTATTTTCCTTTACTTAATGCCATTGCAAGTATATTTCAAGCAAAA CTACCAAAGACCCAAAAAGAGAAAAGAAAATCTCCTGGTCAGCCCATGAGGACCCATACACTGACATCCCGCAATTTACCTTTGATTTAT GTCAACACAAGTGTAATCAGAATTTTTATTCCAAAAACAGAAGAAATGCAGCCAACTGTTGAAGCTAATCAGGCAGCAAAAGAAGACACT GTGGTTTTGAAGATTGGCTCTGTTGCCATGGCTCCCCAGGCTGACAATCCCCTTGGCAGATCTGTCCTTAGGAAAGATATTTACCAGAGA GCCTTGAACTTAGGAATTCTTCGAGATCCTGGATCAGAAATCGAAGACAGACAATACCAAATAGATCTGCAGTCCATCAATATTGGTACT GCACAGTGGCATCAACTAAAACCAGAGAAGGAAAGTGTCTCAGGAGGGGTGGTAACAGAGACTGAAAGGAATTCTCAAAATCCAGCCCTT GAGTGGAATATGGCCAGCAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACT GGAGCACCTGCTGTCATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGAGATTTTAGTGTGTGGCCATTCCTTAGAAGTG AATATAACCACAAACCTGGACTTCTTCCTAAGTGTGGCTCAAGTTCAACTCTTACATCAGTTAATAGTAGCAAATATGACTGGACTGGAA CCATCAAACAAGGCTGCAGAGATCTCTAAACAAGAACAGAAAAAAGTGGATATATTTGATGGAGGCATGGCTGAAACCTCATCTCGCTAC AGTGGTGCTCAGGATAGTGGAATTGGCAGTGACAGTGTTAAAATCAGAATAGTGCAAATAGAGCAGCACAGTGGTGCCAGTCAGCATCGC ATTGCCCGTCCCTCACGCCAGTCATCAATTGTAAAAAATCTAAATTTTATTCCCTTTGACATATTTATTACTGCAAGTAGAATCTCACTA ATGACCTATTCCTGTATGGCCTTATCCAAATCGAAATCACAAGAACAGAAGAATAATGAAAAAACAGACAAGAGTTCATTAAATCTCCCA GAAGTTGATTCAGATGTTGCTAAGCCCAACCAGGCATGTATTTCCACGGTGACAGCAGAAGATCTCTTAAGGAGCAGCATTTCTTTTCCT TCAGGGAAAAAAATAGGGGTCCTCTCTCTTGAAAGTCTTCATGCATCCACAAGGTCATCTGCTAGACAAGCACTTGGTATAACTATTGTT CGGCAGCCTGGTCGAAGAGGAACTGGTGACTTACAGCTAGAGCCTTTTCTGTACTTTATTGTGTCCCAGCCTTCCTTGCTTCTGAGTTGT CACCACAGAAAGCAGCGAGTGGAAGTATCCATTTTTGATGCTGTGCTTAAAGGGGTGGCCTCTGATTACAAATGTATAGATCCTGGGAAG ACTCTGCCTGAAGCCCTTGATTATTGCACTGTTTGGCTACAGACAGTGCCTGGAGAAATAGACAGCAAAAGTGGTATTCCACCTTCCTTT ATAACACTACAGATTAAAGACTTTCTGAATGGACCAGCGGATGTCAATTTGGATATATCAAAGCCTTTGAAAGCAAACCTGAGTTTCACC AAACTGGATCAGATAAACCTTTTTTTAAAGAAGATAAAAAATGCACACAGTTTGGCACATAGTGAAGAGACTTCAGCCATGTCCAACACC ATGGTGAATAAGGATGATCTTCCAGTCTCCAAATATTACCGTGGAAAGTTGTCTAAACCCAAAATTCATGGTGATGGAGTGCAAAAGATT TCAGCTCAAGAAAACATGTGGAGAGCTGTTTCCTGCTTTCAAAAAATTTCTGTTCAAACTACTCAGATTGTGATCTCCATGGAAACTGTA CCCCATACCAGCAAACCATGCCTGTTAGCATCTCTCTCAAACCTCAATGGAAGCCTTAGTGTCAAGGCAACACAAAAAGTACCTGGCATA ATTCTTGGGTCATCATTTCTACTCAGTATAAACGATTTTCTCCTTAAAACAAGTCTCAAAGAAAGAAGCCGCATTCTGATAGGACCATGT TGTGCTACTGCCAATCTGGAAGCTAAGTGGTGTAAACACAGCGGGAATCCAGGCCCAGAACAATCCATACCAAAAATATCCATTGACTTA AGAGGAGGTCTACTACAGGTCTTCTGGGGTCAAGAACATTTGAATTGTTTAGTTCTTCTACATGAATTACTCAATGGATACCTTAATGAG GAGGGAAATTTTGAAGTACAAGTTTCTGAACCAGTGCCTCAAATGTCATCTCCTGTGGAAAAGAATCAGACATTTAAAAGTGAACAAAGT TCAGATGACCTACGGACAGGTCTATTTCAGTATGTACAGGATGCTGAATCTTTGAAATTGCCTGGGGTCTATGAAGTCTTATTTTATAAT GAAACTGAAGATTGCCCAGGGATGATGTTATGGAGATATCCAGAACCTAGAGTACTCACCCTTGTACGAATAACTCCTGTACCTTTTAAC ACCACAGAGGATCCAGATATTAGCACAGCAGACCTTGGTGATGTGCTACAGGTTCCTTGTAGCTTGGAATACTGGGATGAACTCCAGAAG GTTTTTGTTGCATTTAGAGAATTTAATCTGTCTGAAAGCAAAGTTTGTGAACTGCAGTTGCCGGATATCAATCTCGTGAATGACCAGAAG AAATTAGTATCTTCAGATCTTTGGAGAATTGTCTTGAACAGCAGTCAAAATGGAGCTGATGACCAAAGCTCTGCAAGTGAGTCTGGTTCT CAAAGCACTTGTGATCCACTTGTGACTCCAACAGCCCTGGCTGCCTGTACCAGAGTTGACTCCTGCTTTACCCCATGGTTTGTCCCATCC CTTTGCGTTTCTTTCCAGTTTGCTCACCTGGAATTCCATCTTTGTCATCACCTTGACCAACTAGGCACAGCTGCACCACAGTACCTACAG CCATTTGTTTCCGACAGAAATATGCCATCTGAACTAGAATACATGATTGTTTCCTTCAGAGAACCACACATGTATCTTCGACAGTGGAAT AATGGTTCTGTCTGTCAGGAGATCCAGTTCTTAGCTCAAGCAGACTGTAAACTTCTAGAGTGCAGAAATGTCACTATGCAAAGTGTGGTG AAACCCTTCAGCATCTTCGGGCAGATGGCAGTTTCCAGCGATGTAGTGGAAAAGCTGCTTGACTGCACCGTGATAGTTGATTCTGTATTT GTAAACCTTGGACAGCATGTAGTCCATTCACTAAACACTGCAATACAAGCTTGGCAACAGAACAAATGCCCTGAGGTAGAGGAGTTGGTC TTCAGCCATTTTGTGATCTGTAATGACACACAGGAGACACTGCGGTTTGGCCAGGTGGATACTGATGAAAATATTCTGCTGGCGAGTCTC CACAGTCACCAGTACAGCTGGCGCTCTCACAAATCCCCACAGCTGTTACACATCTGTATTGAAGGTTGGGGCAACTGGCGTTGGTCAGAG CCTTTCAGTGTGGACCATGCCGGGACTTTTATTAGAACAATTCAGTACAGGGGTCGAACTGCTTCTCTCATCATCAAGGTTCAGCAACTC AATGGAGTACAAAAACAGATTATCATCTGTGGAAGACAGATCATCTGTAGTTACTTGTCTCAAAGCATAGAACTAAAAGTCGTTCAGCAT TACATTGGTCAAGATGGACAAGCTGTAGTTCGGGAACATTTTGACTGCCTCACAGCCAAACAGAAATTGCCTTCGTACATACTAGAAAAC AATGAACTGACGGAGCTGTGTGTGAAGGCCAAAGGAGATGAAGACTGGTCAAGAGATGTGTGCCTGGAATCCAAAGCCCCTGAGTACAGC ATTGTCATTCAGGTGCCATCTTCAAACAGTTCCATTATTTATGTCTGGTGCACAGTTTTGACTTTAGAACCCAACTCTCAAGTGCAACAA CGAATGATTGTGTTCAGCCCTCTTTTTATCATGAGGAGTCATCTTCCAGACCCCATTATCATACATTTGGAGAAAAGGAGTCTGGGATTG AGTGAAACACAAATTATTCCAGGAAAAGGGCAGGAAAAACCACTGCAAAACATAGAACCTGACCTTGTACATCACCTGACATTCCAAGCA AGAGAAGAATATGATCCTTCAGATTGTGCAGTTCCCATCTCAACATCCCTCATTAAGCAAATAGCCACTAAGGTACACCCTGGAGGCACA GTTAATCAGATCCTTGACGAATTCTATGGGCCAGAAAAGTCGCTTCAACCCATATGGCCCTATAATAAGAAGGATTCTGACAGGAATGAA CAGCTAAGTCAGTGGGATAGCCCAATGCGAGTGAAGCTGTCAATCTGGAAGCCATATGTTAGAACTTTGTTGATAGAACTTCTGCCCTGG GCCCTGCTTATCAATGAATCCAAATGGGACCTCTGGCTATTTGAAGGAGAGAAAATTGTTCTACAGGTTCCTGCTGGCAAAATTATTATT CCTCCTAATTTTCAGGAAGCTTTTCAAATTGGAATATACTGGGCAAATACAAACACTGTGCACAAGTCAGTAGCAATTAAACTGGTCCAT AACCTGACATCTCCAAAGTGGAAAGATGGAGGTAATGGTGAAGTTGTGACACTGGATGAAGAAGCGTTTGTTGATACTGAAATAAGACTT GGTGCTTTTCCAGGACATCAGAAGTTATGTCAGTTCTGCATTTCCTCCATGGTACAGCAAGGTATACAAATTATTCAGATTGAAGACAAG ACTACAATAATCAATAATACACCATATCAAATATTTTATAAACCACAGCTATCTGTCTGCAATCCCCATTCTGGAAAGGAGGCTATGTGG TTGATGTTGCAGAATGATGAGCCGGAGGACTTCGTTATAGCTACTGGGGAGGTCCATAGTGTCCGGGAATTTGTCGAGAAATCATTCTTG CACATTGGAAAAACCATTGTGTGGGAAGGAAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGAT CTCAAGTACTACCGGCCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCT TTCGATGAGCTGGTGAGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCC CGCCCTCCGGCTACAATCCCCGCAGAGTCTCCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGC CCCTGCTGCCGCTGCGCTGTCCCGGCCGCAAGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGG TCGCTTTGCGTTTGTCGAAGCCTCCTCTGAATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTTGAAATTATGTTGTTA >98276_98276_1_VPS13B-GMDS_VPS13B_chr8_100836206_ENST00000357162_GMDS_chr6_1742820_ENST00000380815_length(amino acids)=3225AA_BP=3110 MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL KLKDGIQDDHESCGSNSTNRSTAESTKSSIKPRRMQQAAPTDPDLPPGYVQSLIRRVVNNVNIVINNLILKYVEDDIVLSVNITSAECYT VGELWDRAFMDISATDLVLRKVINFSDCTVCLDKRNASGKIEFYQDPLLYKCSFRTRLHFTYENLNSKMPSVIKIHTLVESLKLSITDQQ LPMFIRIMQLGIALYYGEIGNFKEGEIEDLTCHNKDMLGNITGSEDETRIDMQYPAQHKGQELYSQQDEEQPQGWVSWAWSFVPAIVSYD DGEEDFVGNDPASTMHQQKAQTLKDPIVSIGFYCTKATVTFKLTEMQVESSYYSPQKVKSKEVLCWEQEGTTVEALMMGEPFFDCQIGFV GCRAMCLKGIMGVKDFEENMNRSETEACFFICGDNLSTKGFTYLTNSLFDYRSPENNGTRAEFILDSTHHKETYTEIAGMQRFGAFYMDY LYTMENTSGKGSTNQQDFSSGKSEDLGTVQEKSTKSLVIGPLDFRLDSSAVHRILKMIVCALEHEYEPYSRLKSDIKDENETILNPEEVA LLEEYIPTRHTSVTLLKCTCTISMAEFNLLDHLLPVIMGEKNSSNFMNTTNFQSLRPLPSIRILVDKINLEHSVPMYAEQLVHVVSSLTQ PSDNLLHYCYVHCYLKIFGFQAGLTSLDCSGSYCLPVPVIPSFSTALYGKLLKLPTCWTKRSQIAITEGIFELPNLTIQATRAQTLLLQA IYQSWSHLGNVSSSAVIEALINEIFLSIGVKSKNPLPTLEGSIQNVELKYCSTSLVKCASGTMGSIKICAKAPVDSGKEKLIPLLQGPSD TKDLHSTKWLNESRKPESLLAPDLMAFTIQVPQYIDYCHNSGAVLLCSIQGLAVNIDPILYTWLIYQPQKRTSRHMQQQPVVAVPLVMPV CRRKEDEVSIGSAPLAKQQSYQASEYASSPVKTKTVTESRPLSVPVKAMLNISESCRSPEERMKEFIGIVWNAVKHLTLQLEVQSCCVFI PNDSLPSPSTIVSGDIPGTVRSWYHGQTSMPGTLVLCLPQIKIISAGHKYMEPLQEIPFVIPRPILEEGDAFPWTISLHNFSIYTLLGKQ VTLCLVEPMGCTSTLAVTSQKLLATGPDTRHSFVVCLHVDLESLEIKCSNPQVQLFYELTDIMNKVWNKIQKRGNLNLSPTSPETMAGPV PTSPVRSSIGTAPPDTSTCSPSADIGTTTEGDSIQAGEESPFSDSVTLEQTTSNIGGTSGRVSLWMQWVLPKITIKLFAPDPENKGTEVC MVSELEDLSASIDVQDVYTKVKCKIESFNIDHYRSRPGEGWQSGHFEGVFLQCKEKSVTTTKLLDGTHQQHGFLSLTYTKAVTKNVRHKL TSRNERRSFHKLSEGLMDGSPHFLHEILLSAQAFDIVLYFPLLNAIASIFQAKLPKTQKEKRKSPGQPMRTHTLTSRNLPLIYVNTSVIR IFIPKTEEMQPTVEANQAAKEDTVVLKIGSVAMAPQADNPLGRSVLRKDIYQRALNLGILRDPGSEIEDRQYQIDLQSINIGTAQWHQLK PEKESVSGGVVTETERNSQNPALEWNMASSIRRHQERRAILTPVLTDFSVRITGAPAVIFTKVVSPENLHTEEILVCGHSLEVNITTNLD FFLSVAQVQLLHQLIVANMTGLEPSNKAAEISKQEQKKVDIFDGGMAETSSRYSGAQDSGIGSDSVKIRIVQIEQHSGASQHRIARPSRQ SSIVKNLNFIPFDIFITASRISLMTYSCMALSKSKSQEQKNNEKTDKSSLNLPEVDSDVAKPNQACISTVTAEDLLRSSISFPSGKKIGV LSLESLHASTRSSARQALGITIVRQPGRRGTGDLQLEPFLYFIVSQPSLLLSCHHRKQRVEVSIFDAVLKGVASDYKCIDPGKTLPEALD YCTVWLQTVPGEIDSKSGIPPSFITLQIKDFLNGPADVNLDISKPLKANLSFTKLDQINLFLKKIKNAHSLAHSEETSAMSNTMVNKDDL PVSKYYRGKLSKPKIHGDGVQKISAQENMWRAVSCFQKISVQTTQIVISMETVPHTSKPCLLASLSNLNGSLSVKATQKVPGIILGSSFL LSINDFLLKTSLKERSRILIGPCCATANLEAKWCKHSGNPGPEQSIPKISIDLRGGLLQVFWGQEHLNCLVLLHELLNGYLNEEGNFEVQ VSEPVPQMSSPVEKNQTFKSEQSSDDLRTGLFQYVQDAESLKLPGVYEVLFYNETEDCPGMMLWRYPEPRVLTLVRITPVPFNTTEDPDI STADLGDVLQVPCSLEYWDELQKVFVAFREFNLSESKVCELQLPDINLVNDQKKLVSSDLWRIVLNSSQNGADDQSSASESGSQSTCDPL VTPTALAACTRVDSCFTPWFVPSLCVSFQFAHLEFHLCHHLDQLGTAAPQYLQPFVSDRNMPSELEYMIVSFREPHMYLRQWNNGSVCQE IQFLAQADCKLLECRNVTMQSVVKPFSIFGQMAVSSDVVEKLLDCTVIVDSVFVNLGQHVVHSLNTAIQAWQQNKCPEVEELVFSHFVIC NDTQETLRFGQVDTDENILLASLHSHQYSWRSHKSPQLLHICIEGWGNWRWSEPFSVDHAGTFIRTIQYRGRTASLIIKVQQLNGVQKQI IICGRQIICSYLSQSIELKVVQHYIGQDGQAVVREHFDCLTAKQKLPSYILENNELTELCVKAKGDEDWSRDVCLESKAPEYSIVIQVPS SNSSIIYVWCTVLTLEPNSQVQQRMIVFSPLFIMRSHLPDPIIIHLEKRSLGLSETQIIPGKGQEKPLQNIEPDLVHHLTFQAREEYDPS DCAVPISTSLIKQIATKVHPGGTVNQILDEFYGPEKSLQPIWPYNKKDSDRNEQLSQWDSPMRVKLSIWKPYVRTLLIELLPWALLINES KWDLWLFEGEKIVLQVPAGKIIIPPNFQEAFQIGIYWANTNTVHKSVAIKLVHNLTSPKWKDGGNGEVVTLDEEAFVDTEIRLGAFPGHQ KLCQFCISSMVQQGIQIIQIEDKTTIINNTPYQIFYKPQLSVCNPHSGKEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFLHIGKTIV -------------------------------------------------------------- >98276_98276_2_VPS13B-GMDS_VPS13B_chr8_100836206_ENST00000357162_GMDS_chr6_1742820_ENST00000530927_length(transcript)=10152nt_BP=9441nt GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGATGACCATGAAAGCTGTGGTTCTAATTCTACCAACCGTAGTACTGCT GAGAGCACAAAATCATCAATCAAACCGCGGAGAATGCAGCAGGCTGCTCCTACAGATCCTGACTTACCACCAGGTTATGTGCAGAGTCTG ATTAGACGAGTTGTAAATAATGTAAACATTGTGATAAATAATCTCATACTAAAATATGTTGAAGATGATATCGTCCTTTCCGTCAATATC ACTTCTGCAGAATGTTATACAGTAGGTGAATTATGGGATCGTGCATTCATGGATATTTCTGCAACTGATTTGGTGCTGAGAAAGGTTATC AATTTTTCTGACTGTACAGTTTGTCTTGATAAACGGAATGCCAGTGGTAAAATAGAATTTTACCAGGATCCTTTATTATACAAATGTTCC TTCAGAACTCGTCTTCATTTTACATATGAAAACCTAAATTCCAAGATGCCATCTGTTATTAAAATTCATACTTTAGTGGAAAGTTTGAAA CTTTCTATCACAGATCAACAACTGCCTATGTTTATTCGTATAATGCAACTTGGAATTGCTCTTTACTATGGAGAAATAGGCAATTTTAAA GAAGGCGAAATAGAGGACCTTACTTGTCATAATAAAGATATGCTAGGAAACATTACAGGTTCTGAAGATGAAACAAGAATAGATATGCAA TATCCTGCTCAGCATAAAGGTCAAGAGTTATATTCACAGCAAGATGAGGAGCAGCCACAGGGATGGGTGTCATGGGCCTGGTCCTTTGTG CCTGCAATTGTGAGTTATGACGATGGCGAGGAAGACTTTGTTGGGAACGATCCTGCATCAACCATGCATCAACAAAAAGCACAGACTTTG AAGGATCCTATTGTTTCTATAGGATTTTATTGCACAAAGGCAACGGTGACTTTCAAACTCACAGAAATGCAAGTTGAGAGTAGTTATTAC AGTCCACAGAAAGTAAAATCTAAAGAAGTATTGTGTTGGGAACAAGAAGGAACTACAGTTGAGGCCCTTATGATGGGAGAACCTTTCTTT GATTGCCAGATTGGGTTTGTTGGTTGCAGAGCCATGTGCCTTAAAGGAATTATGGGTGTTAAAGATTTTGAAGAGAATATGAATAGAAGT GAAACTGAAGCCTGTTTCTTCATTTGTGGTGACAATTTGAGTACGAAAGGTTTCACATACCTTACAAATTCATTGTTTGATTACCGAAGC CCAGAAAATAATGGTACTCGCGCAGAATTTATCTTGGATTCAACTCATCATAAGGAGACATACACTGAGATAGCTGGAATGCAACGGTTT GGGGCTTTTTATATGGATTACCTGTATACAATGGAGAACACTAGTGGCAAAGGTTCCACAAATCAACAAGACTTTTCTTCAGGGAAAAGT GAAGATTTGGGAACAGTTCAGGAGAAGTCCACCAAAAGCCTTGTTATAGGTCCTCTTGATTTTCGTTTGGATAGCAGTGCGGTGCATAGG ATTTTGAAAATGATTGTGTGTGCCTTGGAACATGAATATGAACCATATAGCAGGCTAAAATCAGATATTAAGGATGAAAATGAAACAATA CTGAATCCTGAAGAGGTGGCTCTTCTGGAGGAATATATTCCTACTCGACATACAAGTGTTACTCTCCTCAAATGTACCTGCACAATTTCC ATGGCTGAATTCAACTTGCTGGACCATTTACTACCTGTCATTATGGGAGAAAAGAACTCAAGTAACTTCATGAATACTACAAACTTCCAG TCTCTTCGGCCTTTGCCATCCATTCGAATATTGGTGGATAAAATTAATCTGGAACATTCAGTGCCAATGTATGCTGAACAGTTGGTGCAT GTGGTCAGCAGCCTTACTCAACCTTCTGATAACCTGCTTCATTATTGTTATGTACACTGCTATCTTAAGATATTTGGTTTCCAGGCAGGA CTGACGTCTTTGGATTGCAGTGGATCTTACTGCTTACCTGTACCAGTTATTCCCTCTTTCAGCACTGCTCTTTATGGGAAACTTCTGAAA CTCCCCACATGCTGGACCAAAAGATCTCAGATTGCTATAACTGAAGGTATATTTGAACTTCCAAATCTCACAATTCAAGCTACAAGAGCA CAGACACTTCTCTTGCAAGCAATATATCAAAGTTGGTCTCATCTTGGAAATGTCAGCTCTTCCGCAGTGATTGAAGCTTTGATAAATGAA ATCTTCCTAAGTATAGGTGTGAAATCTAAGAATCCCCTGCCAACTCTTGAGGGCTCAATCCAGAATGTTGAATTGAAGTACTGCAGCACA TCATTGGTCAAATGTGCCTCTGGGACCATGGGATCAATAAAAATTTGTGCCAAAGCCCCAGTTGATAGTGGAAAAGAGAAGTTGATTCCC TTGCTTCAGGGTCCTTCTGACACTAAAGACCTTCATAGCACCAAGTGGCTCAATGAGAGTAGAAAGCCAGAGTCTCTCTTAGCTCCAGAT TTGATGGCCTTCACAATCCAAGTTCCACAATATATTGACTACTGCCACAATTCCGGTGCTGTACTTCTTTGCAGTATACAAGGACTAGCA GTTAATATTGACCCAATCTTATATACGTGGCTCATCTATCAGCCTCAGAAACGAACAAGTAGACATATGCAACAGCAGCCTGTGGTAGCT GTTCCTCTTGTTATGCCAGTTTGTAGAAGGAAAGAGGATGAGGTGTCTATTGGAAGTGCCCCCTTGGCAAAGCAGCAATCATATCAGGCC TCTGAATATGCCAGCAGCCCTGTAAAAACAAAAACGGTAACAGAATCCCGCCCATTGTCAGTTCCTGTTAAAGCCATGTTGAATATATCT GAAAGCTGTAGAAGTCCTGAAGAAAGAATGAAGGAATTTATTGGAATTGTTTGGAATGCAGTGAAGCATCTCACACTACAGCTTGAAGTA CAATCTTGTTGTGTGTTTATTCCAAATGATAGCCTGCCTTCCCCAAGTACAATTGTATCTGGTGACATTCCTGGAACAGTAAGAAGTTGG TACCATGGACAAACCAGCATGCCGGGAACACTTGTCCTCTGTTTGCCTCAAATAAAGATTATTAGTGCTGGGCACAAGTATATGGAACCT CTGCAGGAGATTCCATTTGTTATCCCACGACCCATCCTTGAAGAAGGTGATGCTTTTCCTTGGACGATCAGCTTGCATAATTTCAGCATA TATACCCTTCTTGGAAAACAAGTGACACTTTGCCTAGTGGAACCTATGGGTTGCACCTCCACTCTAGCTGTCACGTCTCAAAAACTGCTT GCTACGGGACCTGATACACGACATTCATTTGTTGTCTGTCTCCATGTTGACCTAGAGTCACTAGAGATAAAATGCTCTAATCCCCAGGTC CAGCTCTTCTATGAACTAACTGATATCATGAATAAGGTCTGGAACAAGATTCAGAAGAGAGGCAATCTCAACCTATCTCCAACCTCTCCA GAGACCATGGCAGGGCCTGTTCCTACTTCTCCAGTTAGAAGCAGTATAGGCACAGCTCCTCCAGATACCAGCACATGCAGCCCATCTGCT GACATTGGGACTACTACTGAGGGAGATTCTATACAAGCAGGTGAGGAATCACCATTCTCAGATTCTGTGACCTTGGAACAAACTACAAGT AATATTGGAGGAACCAGTGGACGTGTTAGTTTATGGATGCAGTGGGTGCTTCCCAAAATTACTATAAAGCTCTTTGCTCCAGATCCTGAA AATAAAGGCACAGAGGTTTGTATGGTCAGTGAACTAGAAGATCTCAGTGCTTCCATAGATGTCCAGGATGTATATACCAAAGTGAAATGT AAAATAGAGAGTTTCAATATTGATCACTATAGAAGCAGGCCAGGGGAAGGTTGGCAGTCAGGACATTTTGAAGGAGTATTTCTACAATGC AAAGAAAAATCTGTGACAACTACAAAACTTCTAGATGGCACTCATCAGCAGCATGGATTCCTCTCTCTGACATACACAAAAGCTGTAACA AAAAATGTCCGCCACAAGTTAACATCAAGAAATGAGCGAAGAAGTTTTCATAAGTTATCTGAAGGCCTAATGGATGGTTCTCCTCATTTT CTTCATGAAATTCTTCTTTCAGCACAAGCTTTTGATATTGTTCTTTATTTTCCTTTACTTAATGCCATTGCAAGTATATTTCAAGCAAAA CTACCAAAGACCCAAAAAGAGAAAAGAAAATCTCCTGGTCAGCCCATGAGGACCCATACACTGACATCCCGCAATTTACCTTTGATTTAT GTCAACACAAGTGTAATCAGAATTTTTATTCCAAAAACAGAAGAAATGCAGCCAACTGTTGAAGCTAATCAGGCAGCAAAAGAAGACACT GTGGTTTTGAAGATTGGCTCTGTTGCCATGGCTCCCCAGGCTGACAATCCCCTTGGCAGATCTGTCCTTAGGAAAGATATTTACCAGAGA GCCTTGAACTTAGGAATTCTTCGAGATCCTGGATCAGAAATCGAAGACAGACAATACCAAATAGATCTGCAGTCCATCAATATTGGTACT GCACAGTGGCATCAACTAAAACCAGAGAAGGAAAGTGTCTCAGGAGGGGTGGTAACAGAGACTGAAAGGAATTCTCAAAATCCAGCCCTT GAGTGGAATATGGCCAGCAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACT GGAGCACCTGCTGTCATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGAGATTTTAGTGTGTGGCCATTCCTTAGAAGTG AATATAACCACAAACCTGGACTTCTTCCTAAGTGTGGCTCAAGTTCAACTCTTACATCAGTTAATAGTAGCAAATATGACTGGACTGGAA CCATCAAACAAGGCTGCAGAGATCTCTAAACAAGAACAGAAAAAAGTGGATATATTTGATGGAGGCATGGCTGAAACCTCATCTCGCTAC AGTGGTGCTCAGGATAGTGGAATTGGCAGTGACAGTGTTAAAATCAGAATAGTGCAAATAGAGCAGCACAGTGGTGCCAGTCAGCATCGC ATTGCCCGTCCCTCACGCCAGTCATCAATTGTAAAAAATCTAAATTTTATTCCCTTTGACATATTTATTACTGCAAGTAGAATCTCACTA ATGACCTATTCCTGTATGGCCTTATCCAAATCGAAATCACAAGAACAGAAGAATAATGAAAAAACAGACAAGAGTTCATTAAATCTCCCA GAAGTTGATTCAGATGTTGCTAAGCCCAACCAGGCATGTATTTCCACGGTGACAGCAGAAGATCTCTTAAGGAGCAGCATTTCTTTTCCT TCAGGGAAAAAAATAGGGGTCCTCTCTCTTGAAAGTCTTCATGCATCCACAAGGTCATCTGCTAGACAAGCACTTGGTATAACTATTGTT CGGCAGCCTGGTCGAAGAGGAACTGGTGACTTACAGCTAGAGCCTTTTCTGTACTTTATTGTGTCCCAGCCTTCCTTGCTTCTGAGTTGT CACCACAGAAAGCAGCGAGTGGAAGTATCCATTTTTGATGCTGTGCTTAAAGGGGTGGCCTCTGATTACAAATGTATAGATCCTGGGAAG ACTCTGCCTGAAGCCCTTGATTATTGCACTGTTTGGCTACAGACAGTGCCTGGAGAAATAGACAGCAAAAGTGGTATTCCACCTTCCTTT ATAACACTACAGATTAAAGACTTTCTGAATGGACCAGCGGATGTCAATTTGGATATATCAAAGCCTTTGAAAGCAAACCTGAGTTTCACC AAACTGGATCAGATAAACCTTTTTTTAAAGAAGATAAAAAATGCACACAGTTTGGCACATAGTGAAGAGACTTCAGCCATGTCCAACACC ATGGTGAATAAGGATGATCTTCCAGTCTCCAAATATTACCGTGGAAAGTTGTCTAAACCCAAAATTCATGGTGATGGAGTGCAAAAGATT TCAGCTCAAGAAAACATGTGGAGAGCTGTTTCCTGCTTTCAAAAAATTTCTGTTCAAACTACTCAGATTGTGATCTCCATGGAAACTGTA CCCCATACCAGCAAACCATGCCTGTTAGCATCTCTCTCAAACCTCAATGGAAGCCTTAGTGTCAAGGCAACACAAAAAGTACCTGGCATA ATTCTTGGGTCATCATTTCTACTCAGTATAAACGATTTTCTCCTTAAAACAAGTCTCAAAGAAAGAAGCCGCATTCTGATAGGACCATGT TGTGCTACTGCCAATCTGGAAGCTAAGTGGTGTAAACACAGCGGGAATCCAGGCCCAGAACAATCCATACCAAAAATATCCATTGACTTA AGAGGAGGTCTACTACAGGTCTTCTGGGGTCAAGAACATTTGAATTGTTTAGTTCTTCTACATGAATTACTCAATGGATACCTTAATGAG GAGGGAAATTTTGAAGTACAAGTTTCTGAACCAGTGCCTCAAATGTCATCTCCTGTGGAAAAGAATCAGACATTTAAAAGTGAACAAAGT TCAGATGACCTACGGACAGGTCTATTTCAGTATGTACAGGATGCTGAATCTTTGAAATTGCCTGGGGTCTATGAAGTCTTATTTTATAAT GAAACTGAAGATTGCCCAGGGATGATGTTATGGAGATATCCAGAACCTAGAGTACTCACCCTTGTACGAATAACTCCTGTACCTTTTAAC ACCACAGAGGATCCAGATATTAGCACAGCAGACCTTGGTGATGTGCTACAGGTTCCTTGTAGCTTGGAATACTGGGATGAACTCCAGAAG GTTTTTGTTGCATTTAGAGAATTTAATCTGTCTGAAAGCAAAGTTTGTGAACTGCAGTTGCCGGATATCAATCTCGTGAATGACCAGAAG AAATTAGTATCTTCAGATCTTTGGAGAATTGTCTTGAACAGCAGTCAAAATGGAGCTGATGACCAAAGCTCTGCAAGTGAGTCTGGTTCT CAAAGCACTTGTGATCCACTTGTGACTCCAACAGCCCTGGCTGCCTGTACCAGAGTTGACTCCTGCTTTACCCCATGGTTTGTCCCATCC CTTTGCGTTTCTTTCCAGTTTGCTCACCTGGAATTCCATCTTTGTCATCACCTTGACCAACTAGGCACAGCTGCACCACAGTACCTACAG CCATTTGTTTCCGACAGAAATATGCCATCTGAACTAGAATACATGATTGTTTCCTTCAGAGAACCACACATGTATCTTCGACAGTGGAAT AATGGTTCTGTCTGTCAGGAGATCCAGTTCTTAGCTCAAGCAGACTGTAAACTTCTAGAGTGCAGAAATGTCACTATGCAAAGTGTGGTG AAACCCTTCAGCATCTTCGGGCAGATGGCAGTTTCCAGCGATGTAGTGGAAAAGCTGCTTGACTGCACCGTGATAGTTGATTCTGTATTT GTAAACCTTGGACAGCATGTAGTCCATTCACTAAACACTGCAATACAAGCTTGGCAACAGAACAAATGCCCTGAGGTAGAGGAGTTGGTC TTCAGCCATTTTGTGATCTGTAATGACACACAGGAGACACTGCGGTTTGGCCAGGTGGATACTGATGAAAATATTCTGCTGGCGAGTCTC CACAGTCACCAGTACAGCTGGCGCTCTCACAAATCCCCACAGCTGTTACACATCTGTATTGAAGGTTGGGGCAACTGGCGTTGGTCAGAG CCTTTCAGTGTGGACCATGCCGGGACTTTTATTAGAACAATTCAGTACAGGGGTCGAACTGCTTCTCTCATCATCAAGGTTCAGCAACTC AATGGAGTACAAAAACAGATTATCATCTGTGGAAGACAGATCATCTGTAGTTACTTGTCTCAAAGCATAGAACTAAAAGTCGTTCAGCAT TACATTGGTCAAGATGGACAAGCTGTAGTTCGGGAACATTTTGACTGCCTCACAGCCAAACAGAAATTGCCTTCGTACATACTAGAAAAC AATGAACTGACGGAGCTGTGTGTGAAGGCCAAAGGAGATGAAGACTGGTCAAGAGATGTGTGCCTGGAATCCAAAGCCCCTGAGTACAGC ATTGTCATTCAGGTGCCATCTTCAAACAGTTCCATTATTTATGTCTGGTGCACAGTTTTGACTTTAGAACCCAACTCTCAAGTGCAACAA CGAATGATTGTGTTCAGCCCTCTTTTTATCATGAGGAGTCATCTTCCAGACCCCATTATCATACATTTGGAGAAAAGGAGTCTGGGATTG AGTGAAACACAAATTATTCCAGGAAAAGGGCAGGAAAAACCACTGCAAAACATAGAACCTGACCTTGTACATCACCTGACATTCCAAGCA AGAGAAGAATATGATCCTTCAGATTGTGCAGTTCCCATCTCAACATCCCTCATTAAGCAAATAGCCACTAAGGTACACCCTGGAGGCACA GTTAATCAGATCCTTGACGAATTCTATGGGCCAGAAAAGTCGCTTCAACCCATATGGCCCTATAATAAGAAGGATTCTGACAGGAATGAA CAGCTAAGTCAGTGGGATAGCCCAATGCGAGTGAAGCTGTCAATCTGGAAGCCATATGTTAGAACTTTGTTGATAGAACTTCTGCCCTGG GCCCTGCTTATCAATGAATCCAAATGGGACCTCTGGCTATTTGAAGGAGAGAAAATTGTTCTACAGGTTCCTGCTGGCAAAATTATTATT CCTCCTAATTTTCAGGAAGCTTTTCAAATTGGAATATACTGGGCAAATACAAACACTGTGCACAAGTCAGTAGCAATTAAACTGGTCCAT AACCTGACATCTCCAAAGTGGAAAGATGGAGGTAATGGTGAAGTTGTGACACTGGATGAAGAAGCGTTTGTTGATACTGAAATAAGACTT GGTGCTTTTCCAGGACATCAGAAGTTATGTCAGTTCTGCATTTCCTCCATGGTACAGCAAGGTATACAAATTATTCAGATTGAAGACAAG ACTACAATAATCAATAATACACCATATCAAATATTTTATAAACCACAGCTATCTGTCTGCAATCCCCATTCTGGAAAGGAGGCTATGTGG TTGATGTTGCAGAATGATGAGCCGGAGGACTTCGTTATAGCTACTGGGGAGGTCCATAGTGTCCGGGAATTTGTCGAGAAATCATTCTTG CACATTGGAAAAACCATTGTGTGGGAAGGAAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGAT CTCAAGTACTACCGGCCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCT TTCGATGAGCTGGTGAGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCC CGCCCTCCGGCTACAATCCCCGCAGAGTCTCCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGC CCCTGCTGCCGCTGCGCTGTCCCGGCCGCAAGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGG TCGCTTTGCGTTTGTCGAAGCCTCCTCTGAATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTTGAAATTATGTTGTTA >98276_98276_2_VPS13B-GMDS_VPS13B_chr8_100836206_ENST00000357162_GMDS_chr6_1742820_ENST00000530927_length(amino acids)=3225AA_BP=3110 MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL KLKDGIQDDHESCGSNSTNRSTAESTKSSIKPRRMQQAAPTDPDLPPGYVQSLIRRVVNNVNIVINNLILKYVEDDIVLSVNITSAECYT VGELWDRAFMDISATDLVLRKVINFSDCTVCLDKRNASGKIEFYQDPLLYKCSFRTRLHFTYENLNSKMPSVIKIHTLVESLKLSITDQQ LPMFIRIMQLGIALYYGEIGNFKEGEIEDLTCHNKDMLGNITGSEDETRIDMQYPAQHKGQELYSQQDEEQPQGWVSWAWSFVPAIVSYD DGEEDFVGNDPASTMHQQKAQTLKDPIVSIGFYCTKATVTFKLTEMQVESSYYSPQKVKSKEVLCWEQEGTTVEALMMGEPFFDCQIGFV GCRAMCLKGIMGVKDFEENMNRSETEACFFICGDNLSTKGFTYLTNSLFDYRSPENNGTRAEFILDSTHHKETYTEIAGMQRFGAFYMDY LYTMENTSGKGSTNQQDFSSGKSEDLGTVQEKSTKSLVIGPLDFRLDSSAVHRILKMIVCALEHEYEPYSRLKSDIKDENETILNPEEVA LLEEYIPTRHTSVTLLKCTCTISMAEFNLLDHLLPVIMGEKNSSNFMNTTNFQSLRPLPSIRILVDKINLEHSVPMYAEQLVHVVSSLTQ PSDNLLHYCYVHCYLKIFGFQAGLTSLDCSGSYCLPVPVIPSFSTALYGKLLKLPTCWTKRSQIAITEGIFELPNLTIQATRAQTLLLQA IYQSWSHLGNVSSSAVIEALINEIFLSIGVKSKNPLPTLEGSIQNVELKYCSTSLVKCASGTMGSIKICAKAPVDSGKEKLIPLLQGPSD TKDLHSTKWLNESRKPESLLAPDLMAFTIQVPQYIDYCHNSGAVLLCSIQGLAVNIDPILYTWLIYQPQKRTSRHMQQQPVVAVPLVMPV CRRKEDEVSIGSAPLAKQQSYQASEYASSPVKTKTVTESRPLSVPVKAMLNISESCRSPEERMKEFIGIVWNAVKHLTLQLEVQSCCVFI PNDSLPSPSTIVSGDIPGTVRSWYHGQTSMPGTLVLCLPQIKIISAGHKYMEPLQEIPFVIPRPILEEGDAFPWTISLHNFSIYTLLGKQ VTLCLVEPMGCTSTLAVTSQKLLATGPDTRHSFVVCLHVDLESLEIKCSNPQVQLFYELTDIMNKVWNKIQKRGNLNLSPTSPETMAGPV PTSPVRSSIGTAPPDTSTCSPSADIGTTTEGDSIQAGEESPFSDSVTLEQTTSNIGGTSGRVSLWMQWVLPKITIKLFAPDPENKGTEVC MVSELEDLSASIDVQDVYTKVKCKIESFNIDHYRSRPGEGWQSGHFEGVFLQCKEKSVTTTKLLDGTHQQHGFLSLTYTKAVTKNVRHKL TSRNERRSFHKLSEGLMDGSPHFLHEILLSAQAFDIVLYFPLLNAIASIFQAKLPKTQKEKRKSPGQPMRTHTLTSRNLPLIYVNTSVIR IFIPKTEEMQPTVEANQAAKEDTVVLKIGSVAMAPQADNPLGRSVLRKDIYQRALNLGILRDPGSEIEDRQYQIDLQSINIGTAQWHQLK PEKESVSGGVVTETERNSQNPALEWNMASSIRRHQERRAILTPVLTDFSVRITGAPAVIFTKVVSPENLHTEEILVCGHSLEVNITTNLD FFLSVAQVQLLHQLIVANMTGLEPSNKAAEISKQEQKKVDIFDGGMAETSSRYSGAQDSGIGSDSVKIRIVQIEQHSGASQHRIARPSRQ SSIVKNLNFIPFDIFITASRISLMTYSCMALSKSKSQEQKNNEKTDKSSLNLPEVDSDVAKPNQACISTVTAEDLLRSSISFPSGKKIGV LSLESLHASTRSSARQALGITIVRQPGRRGTGDLQLEPFLYFIVSQPSLLLSCHHRKQRVEVSIFDAVLKGVASDYKCIDPGKTLPEALD YCTVWLQTVPGEIDSKSGIPPSFITLQIKDFLNGPADVNLDISKPLKANLSFTKLDQINLFLKKIKNAHSLAHSEETSAMSNTMVNKDDL PVSKYYRGKLSKPKIHGDGVQKISAQENMWRAVSCFQKISVQTTQIVISMETVPHTSKPCLLASLSNLNGSLSVKATQKVPGIILGSSFL LSINDFLLKTSLKERSRILIGPCCATANLEAKWCKHSGNPGPEQSIPKISIDLRGGLLQVFWGQEHLNCLVLLHELLNGYLNEEGNFEVQ VSEPVPQMSSPVEKNQTFKSEQSSDDLRTGLFQYVQDAESLKLPGVYEVLFYNETEDCPGMMLWRYPEPRVLTLVRITPVPFNTTEDPDI STADLGDVLQVPCSLEYWDELQKVFVAFREFNLSESKVCELQLPDINLVNDQKKLVSSDLWRIVLNSSQNGADDQSSASESGSQSTCDPL VTPTALAACTRVDSCFTPWFVPSLCVSFQFAHLEFHLCHHLDQLGTAAPQYLQPFVSDRNMPSELEYMIVSFREPHMYLRQWNNGSVCQE IQFLAQADCKLLECRNVTMQSVVKPFSIFGQMAVSSDVVEKLLDCTVIVDSVFVNLGQHVVHSLNTAIQAWQQNKCPEVEELVFSHFVIC NDTQETLRFGQVDTDENILLASLHSHQYSWRSHKSPQLLHICIEGWGNWRWSEPFSVDHAGTFIRTIQYRGRTASLIIKVQQLNGVQKQI IICGRQIICSYLSQSIELKVVQHYIGQDGQAVVREHFDCLTAKQKLPSYILENNELTELCVKAKGDEDWSRDVCLESKAPEYSIVIQVPS SNSSIIYVWCTVLTLEPNSQVQQRMIVFSPLFIMRSHLPDPIIIHLEKRSLGLSETQIIPGKGQEKPLQNIEPDLVHHLTFQAREEYDPS DCAVPISTSLIKQIATKVHPGGTVNQILDEFYGPEKSLQPIWPYNKKDSDRNEQLSQWDSPMRVKLSIWKPYVRTLLIELLPWALLINES KWDLWLFEGEKIVLQVPAGKIIIPPNFQEAFQIGIYWANTNTVHKSVAIKLVHNLTSPKWKDGGNGEVVTLDEEAFVDTEIRLGAFPGHQ KLCQFCISSMVQQGIQIIQIEDKTTIINNTPYQIFYKPQLSVCNPHSGKEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFLHIGKTIV -------------------------------------------------------------- >98276_98276_3_VPS13B-GMDS_VPS13B_chr8_100836206_ENST00000358544_GMDS_chr6_1742820_ENST00000380815_length(transcript)=10227nt_BP=9516nt GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGATGACCATGAAAGCTGTGGTTCTAATTCTACCAACCGTAGTACTGCT GAGAGCACAAAATCATCAATCAAACCGCGGAGAATGCAGCAGGCTGCTCCTACAGATCCTGACTTACCACCAGGTTATGTGCAGAGTCTG ATTAGACGAGTTGTAAATAATGTAAACATTGTGATAAATAATCTCATACTAAAATATGTTGAAGATGATATCGTCCTTTCCGTCAATATC ACTTCTGCAGAATGTTATACAGTAGGTGAATTATGGGATCGTGCATTCATGGATATTTCTGCAACTGATTTGGTGCTGAGAAAGGTTATC AATTTTTCTGACTGTACAGTTTGTCTTGATAAACGGAATGCCAGTGGTAAAATAGAATTTTACCAGGATCCTTTATTATACAAATGTTCC TTCAGAACTCGTCTTCATTTTACATATGAAAACCTAAATTCCAAGATGCCATCTGTTATTAAAATTCATACTTTAGTGGAAAGTTTGAAA CTTTCTATCACAGATCAACAACTGCCTATGTTTATTCGTATAATGCAACTTGGAATTGCTCTTTACTATGGAGAAATAGGCAATTTTAAA GAAGGCGAAATAGAGGACCTTACTTGTCATAATAAAGATATGCTAGGAAACATTACAGGTTCTGAAGATGAAACAAGAATAGATATGCAA TATCCTGCTCAGCATAAAGGTCAAGAGTTATATTCACAGCAAGATGAGGAGCAGCCACAGGGATGGGTGTCATGGGCCTGGTCCTTTGTG CCTGCAATTGTGAGTTATGACGATGGCGAGGAAGACTTTGTTGGGAACGATCCTGCATCAACCATGCATCAACAAAAAGCACAGACTTTG AAGGATCCTATTGTTTCTATAGGATTTTATTGCACAAAGGCAACGGTGACTTTCAAACTCACAGAAATGCAAGTTGAGAGTAGTTATTAC AGTCCACAGAAAGTAAAATCTAAAGAAGTATTGTGTTGGGAACAAGAAGGAACTACAGTTGAGGCCCTTATGATGGGAGAACCTTTCTTT GATTGCCAGATTGGGTTTGTTGGTTGCAGAGCCATGTGCCTTAAAGGAATTATGGGTGTTAAAGATTTTGAAGAGAATATGAATAGAAGT GAAACTGAAGCCTGTTTCTTCATTTGTGGTGACAATTTGAGTACGAAAGGTTTCACATACCTTACAAATTCATTGTTTGATTACCGAAGC CCAGAAAATAATGGTACTCGCGCAGAATTTATCTTGGATTCAACTCATCATAAGGAGACATACACTGAGATAGCTGGAATGCAACGGTTT GGGGCTTTTTATATGGATTACCTGTATACAATGGAGAACACTAGTGGCAAAGGTTCCACAAATCAACAAGACTTTTCTTCAGGGAAAAGT GAAGATTTGGGAACAGTTCAGGAGAAGTCCACCAAAAGCCTTGTTATAGGTCCTCTTGATTTTCGTTTGGATAGCAGTGCGGTGCATAGG ATTTTGAAAATGATTGTGTGTGCCTTGGAACATGAATATGAACCATATAGCAGGCTAAAATCAGATATTAAGGATGAAAATGAAACAATA CTGAATCCTGAAGAGGTGGCTCTTCTGGAGGAATATATTCCTACTCGACATACAAGTGTTACTCTCCTCAAATGTACCTGCACAATTTCC ATGGCTGAATTCAACTTGCTGGACCATTTACTACCTGTCATTATGGGAGAAAAGAACTCAAGTAACTTCATGAATACTACAAACTTCCAG TCTCTTCGGCCTTTGCCATCCATTCGAATATTGGTGGATAAAATTAATCTGGAACATTCAGTGCCAATGTATGCTGAACAGTTGGTGCAT GTGGTCAGCAGCCTTACTCAACCTTCTGATAACCTGCTTCATTATTGTTATGTACACTGCTATCTTAAGATATTTGGTTTCCAGGCAGGA CTGACGTCTTTGGATTGCAGTGGATCTTACTGCTTACCTGTACCAGTTATTCCCTCTTTCAGCACTGCTCTTTATGGGAAACTTCTGAAA CTCCCCACATGCTGGACCAAAAGATCTCAGATTGCTATAACTGAAGGTATATTTGAACTTCCAAATCTCACAATTCAAGCTACAAGAGCA CAGACACTTCTCTTGCAAGCAATATATCAAAGTTGGTCTCATCTTGGAAATGTCAGCTCTTCCGCAGTGATTGAAGCTTTGATAAATGAA ATCTTCCTAAGTATAGGTGTGAAATCTAAGAATCCCCTGCCAACTCTTGAGGGCTCAATCCAGAATGTTGAATTGAAGTACTGCAGCACA TCATTGGTCAAATGTGCCTCTGGGACCATGGGATCAATAAAAATTTGTGCCAAAGCCCCAGTTGATAGTGGAAAAGAGAAGTTGATTCCC TTGCTTCAGGGTCCTTCTGACACTAAAGACCTTCATAGCACCAAGTGGCTCAATGAGAGTAGAAAGCCAGAGTCTCTCTTAGCTCCAGAT TTGATGGCCTTCACAATCCAAGTTCCACAATATATTGACTACTGCCACAATTCCGGTGCTGTACTTCTTTGCAGTATACAAGGACTAGCA GTTAATATTGACCCAATCTTATATACGTGGCTCATCTATCAGCCTCAGAAACGAACAAGTAGACATATGCAACAGCAGCCTGTGGTAGCT GTTCCTCTTGTTATGCCAGTTTGTAGAAGGAAAGAGGATGAGGTGTCTATTGGAAGTGCCCCCTTGGCAAAGCAGCAATCATATCAGGCC TCTGAATATGCCAGCAGCCCTGTAAAAACAAAAACGGTAACAGAATCCCGCCCATTGTCAGTTCCTGTTAAAGCCATGTTGAATATATCT GAAAGCTGTAGAAGTCCTGAAGAAAGAATGAAGGAATTTATTGGAATTGTTTGGAATGCAGTGAAGCATCTCACACTACAGCTTGAAGTA CAATCTTGTTGTGTGTTTATTCCAAATGATAGCCTGCCTTCCCCAAGTACAATTGTATCTGGTGACATTCCTGGAACAGTAAGAAGTTGG TACCATGGACAAACCAGCATGCCGGGAACACTTGTCCTCTGTTTGCCTCAAATAAAGATTATTAGTGCTGGGCACAAGTATATGGAACCT CTGCAGGAGATTCCATTTGTTATCCCACGACCCATCCTTGAAGAAGGTGATGCTTTTCCTTGGACGATCAGCTTGCATAATTTCAGCATA TATACCCTTCTTGGAAAACAAGTGACACTTTGCCTAGTGGAACCTATGGGTTGCACCTCCACTCTAGCTGTCACGTCTCAAAAACTGCTT GCTACGGGACCTGATACACGACATTCATTTGTTGTCTGTCTCCATGTTGACCTAGAGTCACTAGAGATAAAATGCTCTAATCCCCAGGTC CAGCTCTTCTATGAACTAACTGATATCATGAATAAGGTCTGGAACAAGATTCAGAAGAGAGGCAATCTCAACCTATCTCCAACCTCTCCA GAGACCATGGCAGGGCCTGTTCCTACTTCTCCAGTTAGAAGCAGTATAGGCACAGCTCCTCCAGATACCAGCACATGCAGCCCATCTGCT GACATTGGGACTACTACTGAGGGAGATTCTATACAAGCAGGTGAGGAATCACCATTCTCAGATTCTGTGACCTTGGAACAAACTACAAGT AATATTGGAGGAACCAGTGGACGTGTTAGTTTATGGATGCAGTGGGTGCTTCCCAAAATTACTATAAAGCTCTTTGCTCCAGATCCTGAA AATAAAGGCACAGAGGTTTGTATGGTCAGTGAACTAGAAGATCTCAGTGCTTCCATAGATGTCCAGGATGTATATACCAAAGTGAAATGT AAAATAGAGAGTTTCAATATTGATCACTATAGAAGCAGCCTTGGGGAAGAGTGTTGGTCTTTGGGGCAATGTGGAGGTGTCTTCCTTTCC TGTACTGACAAGCTGAACAGACGCACCTTGTTGGTTCGACCCATCAGCAAGCAGGACCCTTTCAGTAATTGCTCTGGCTTCTTTCCTTCT ACAACTACAAAACTTCTAGATGGCACTCATCAGCAGCATGGATTCCTCTCTCTGACATACACAAAAGCTGTAACAAAAAATGTCCGCCAC AAGTTAACATCAAGAAATGAGCGAAGAAGTTTTCATAAGTTATCTGAAGGCCTAATGGATGGTTCTCCTCATTTTCTTCATGAAATTCTT CTTTCAGCACAAGCTTTTGATATTGTTCTTTATTTTCCTTTACTTAATGCCATTGCAAGTATATTTCAAGCAAAACTACCAAAGACCCAA AAAGAGAAAAGAAAATCTCCTGGTCAGCCCATGAGGACCCATACACTGACATCCCGCAATTTACCTTTGATTTATGTCAACACAAGTGTA ATCAGAATTTTTATTCCAAAAACAGAAGAAATGCAGCCAACTGTTGAAGCTAATCAGGCAGCAAAAGAAGACACTGTGGTTTTGAAGATT GGCTCTGTTGCCATGGCTCCCCAGGCTGACAATCCCCTTGGCAGATCTGTCCTTAGGAAAGATATTTACCAGAGAGCCTTGAACTTAGGA ATTCTTCGAGATCCTGGATCAGAAATCGAAGACAGACAATACCAAATAGATCTGCAGTCCATCAATATTGGTACTGCACAGTGGCATCAA CTAAAACCAGAGAAGGAAAGTGTCTCAGGAGGGGTGGTAACAGAGACTGAAAGGAATTCTCAAAATCCAGCCCTTGAGTGGAATATGGCC AGCAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACTGGAGCACCTGCTGTC ATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGAGATTTTAGTGTGTGGCCATTCCTTAGAAGTGAATATAACCACAAAC CTGGACTTCTTCCTAAGTGTGGCTCAAGTTCAACTCTTACATCAGTTAATAGTAGCAAATATGACTGGACTGGAACCATCAAACAAGGCT GCAGAGATCTCTAAACAAGAACAGAAAAAAGTGGATATATTTGATGGAGGCATGGCTGAAACCTCATCTCGCTACAGTGGTGCTCAGGAT AGTGGAATTGGCAGTGACAGTGTTAAAATCAGAATAGTGCAAATAGAGCAGCACAGTGGTGCCAGTCAGCATCGCATTGCCCGTCCCTCA CGCCAGTCATCAATTGTAAAAAATCTAAATTTTATTCCCTTTGACATATTTATTACTGCAAGTAGAATCTCACTAATGACCTATTCCTGT ATGGCCTTATCCAAATCGAAATCACAAGAACAGAAGAATAATGAAAAAACAGACAAGAGTTCATTAAATCTCCCAGAAGTTGATTCAGAT GTTGCTAAGCCCAACCAGGCATGTATTTCCACGGTGACAGCAGAAGATCTCTTAAGGAGCAGCATTTCTTTTCCTTCAGGGAAAAAAATA GGGGTCCTCTCTCTTGAAAGTCTTCATGCATCCACAAGGTCATCTGCTAGACAAGCACTTGGTATAACTATTGTTCGGCAGCCTGGTCGA AGAGGAACTGGTGACTTACAGCTAGAGCCTTTTCTGTACTTTATTGTGTCCCAGCCTTCCTTGCTTCTGAGTTGTCACCACAGAAAGCAG CGAGTGGAAGTATCCATTTTTGATGCTGTGCTTAAAGGGGTGGCCTCTGATTACAAATGTATAGATCCTGGGAAGACTCTGCCTGAAGCC CTTGATTATTGCACTGTTTGGCTACAGACAGTGCCTGGAGAAATAGACAGCAAAAGTGGTATTCCACCTTCCTTTATAACACTACAGATT AAAGACTTTCTGAATGGACCAGCGGATGTCAATTTGGATATATCAAAGCCTTTGAAAGCAAACCTGAGTTTCACCAAACTGGATCAGATA AACCTTTTTTTAAAGAAGATAAAAAATGCACACAGTTTGGCACATAGTGAAGAGACTTCAGCCATGTCCAACACCATGGTGAATAAGGAT GATCTTCCAGTCTCCAAATATTACCGTGGAAAGTTGTCTAAACCCAAAATTCATGGTGATGGAGTGCAAAAGATTTCAGCTCAAGAAAAC ATGTGGAGAGCTGTTTCCTGCTTTCAAAAAATTTCTGTTCAAACTACTCAGATTGTGATCTCCATGGAAACTGTACCCCATACCAGCAAA CCATGCCTGTTAGCATCTCTCTCAAACCTCAATGGAAGCCTTAGTGTCAAGGCAACACAAAAAGTACCTGGCATAATTCTTGGGTCATCA TTTCTACTCAGTATAAACGATTTTCTCCTTAAAACAAGTCTCAAAGAAAGAAGCCGCATTCTGATAGGACCATGTTGTGCTACTGCCAAT CTGGAAGCTAAGTGGTGTAAACACAGCGGGAATCCAGGCCCAGAACAATCCATACCAAAAATATCCATTGACTTAAGAGGAGGTCTACTA CAGGTCTTCTGGGGTCAAGAACATTTGAATTGTTTAGTTCTTCTACATGAATTACTCAATGGATACCTTAATGAGGAGGGAAATTTTGAA GTACAAGTTTCTGAACCAGTGCCTCAAATGTCATCTCCTGTGGAAAAGAATCAGACATTTAAAAGTGAACAAAGTTCAGATGACCTACGG ACAGGTCTATTTCAGTATGTACAGGATGCTGAATCTTTGAAATTGCCTGGGGTCTATGAAGTCTTATTTTATAATGAAACTGAAGATTGC CCAGGGATGATGTTATGGAGATATCCAGAACCTAGAGTACTCACCCTTGTACGAATAACTCCTGTACCTTTTAACACCACAGAGGATCCA GATATTAGCACAGCAGACCTTGGTGATGTGCTACAGGTTCCTTGTAGCTTGGAATACTGGGATGAACTCCAGAAGGTTTTTGTTGCATTT AGAGAATTTAATCTGTCTGAAAGCAAAGTTTGTGAACTGCAGTTGCCGGATATCAATCTCGTGAATGACCAGAAGAAATTAGTATCTTCA GATCTTTGGAGAATTGTCTTGAACAGCAGTCAAAATGGAGCTGATGACCAAAGCTCTGCAAGTGAGTCTGGTTCTCAAAGCACTTGTGAT CCACTTGTGACTCCAACAGCCCTGGCTGCCTGTACCAGAGTTGACTCCTGCTTTACCCCATGGTTTGTCCCATCCCTTTGCGTTTCTTTC CAGTTTGCTCACCTGGAATTCCATCTTTGTCATCACCTTGACCAACTAGGCACAGCTGCACCACAGTACCTACAGCCATTTGTTTCCGAC AGAAATATGCCATCTGAACTAGAATACATGATTGTTTCCTTCAGAGAACCACACATGTATCTTCGACAGTGGAATAATGGTTCTGTCTGT CAGGAGATCCAGTTCTTAGCTCAAGCAGACTGTAAACTTCTAGAGTGCAGAAATGTCACTATGCAAAGTGTGGTGAAACCCTTCAGCATC TTCGGGCAGATGGCAGTTTCCAGCGATGTAGTGGAAAAGCTGCTTGACTGCACCGTGATAGTTGATTCTGTATTTGTAAACCTTGGACAG CATGTAGTCCATTCACTAAACACTGCAATACAAGCTTGGCAACAGAACAAATGCCCTGAGGTAGAGGAGTTGGTCTTCAGCCATTTTGTG ATCTGTAATGACACACAGGAGACACTGCGGTTTGGCCAGGTGGATACTGATGAAAATATTCTGCTGGCGAGTCTCCACAGTCACCAGTAC AGCTGGCGCTCTCACAAATCCCCACAGCTGTTACACATCTGTATTGAAGGTTGGGGCAACTGGCGTTGGTCAGAGCCTTTCAGTGTGGAC CATGCCGGGACTTTTATTAGAACAATTCAGTACAGGGGTCGAACTGCTTCTCTCATCATCAAGGTTCAGCAACTCAATGGAGTACAAAAA CAGATTATCATCTGTGGAAGACAGATCATCTGTAGTTACTTGTCTCAAAGCATAGAACTAAAAGTCGTTCAGCATTACATTGGTCAAGAT GGACAAGCTGTAGTTCGGGAACATTTTGACTGCCTCACAGCCAAACAGAAATTGCCTTCGTACATACTAGAAAACAATGAACTGACGGAG CTGTGTGTGAAGGCCAAAGGAGATGAAGACTGGTCAAGAGATGTGTGCCTGGAATCCAAAGCCCCTGAGTACAGCATTGTCATTCAGGTG CCATCTTCAAACAGTTCCATTATTTATGTCTGGTGCACAGTTTTGACTTTAGAACCCAACTCTCAAGTGCAACAACGAATGATTGTGTTC AGCCCTCTTTTTATCATGAGGAGTCATCTTCCAGACCCCATTATCATACATTTGGAGAAAAGGAGTCTGGGATTGAGTGAAACACAAATT ATTCCAGGAAAAGGGCAGGAAAAACCACTGCAAAACATAGAACCTGACCTTGTACATCACCTGACATTCCAAGCAAGAGAAGAATATGAT CCTTCAGATTGTGCAGTTCCCATCTCAACATCCCTCATTAAGCAAATAGCCACTAAGGTACACCCTGGAGGCACAGTTAATCAGATCCTT GACGAATTCTATGGGCCAGAAAAGTCGCTTCAACCCATATGGCCCTATAATAAGAAGGATTCTGACAGGAATGAACAGCTAAGTCAGTGG GATAGCCCAATGCGAGTGAAGCTGTCAATCTGGAAGCCATATGTTAGAACTTTGTTGATAGAACTTCTGCCCTGGGCCCTGCTTATCAAT GAATCCAAATGGGACCTCTGGCTATTTGAAGGAGAGAAAATTGTTCTACAGGTTCCTGCTGGCAAAATTATTATTCCTCCTAATTTTCAG GAAGCTTTTCAAATTGGAATATACTGGGCAAATACAAACACTGTGCACAAGTCAGTAGCAATTAAACTGGTCCATAACCTGACATCTCCA AAGTGGAAAGATGGAGGTAATGGTGAAGTTGTGACACTGGATGAAGAAGCGTTTGTTGATACTGAAATAAGACTTGGTGCTTTTCCAGGA CATCAGAAGTTATGTCAGTTCTGCATTTCCTCCATGGTACAGCAAGGTATACAAATTATTCAGATTGAAGACAAGACTACAATAATCAAT AATACACCATATCAAATATTTTATAAACCACAGCTATCTGTCTGCAATCCCCATTCTGGAAAGGAGGCTATGTGGTTGATGTTGCAGAAT GATGAGCCGGAGGACTTCGTTATAGCTACTGGGGAGGTCCATAGTGTCCGGGAATTTGTCGAGAAATCATTCTTGCACATTGGAAAAACC ATTGTGTGGGAAGGAAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATCTCAAGTACTACCGG CCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTTTCGATGAGCTGGTG AGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCCCGCCCTCCGGCTACA ATCCCCGCAGAGTCTCCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGCCCCTGCTGCCGCTGC GCTGTCCCGGCCGCAAGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGGTCGCTTTGCGTTTGT CGAAGCCTCCTCTGAATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTTGAAATTATGTTGTTACACAACAAATTGTGG >98276_98276_3_VPS13B-GMDS_VPS13B_chr8_100836206_ENST00000358544_GMDS_chr6_1742820_ENST00000380815_length(amino acids)=3250AA_BP=3135 MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL KLKDGIQDDHESCGSNSTNRSTAESTKSSIKPRRMQQAAPTDPDLPPGYVQSLIRRVVNNVNIVINNLILKYVEDDIVLSVNITSAECYT VGELWDRAFMDISATDLVLRKVINFSDCTVCLDKRNASGKIEFYQDPLLYKCSFRTRLHFTYENLNSKMPSVIKIHTLVESLKLSITDQQ LPMFIRIMQLGIALYYGEIGNFKEGEIEDLTCHNKDMLGNITGSEDETRIDMQYPAQHKGQELYSQQDEEQPQGWVSWAWSFVPAIVSYD DGEEDFVGNDPASTMHQQKAQTLKDPIVSIGFYCTKATVTFKLTEMQVESSYYSPQKVKSKEVLCWEQEGTTVEALMMGEPFFDCQIGFV GCRAMCLKGIMGVKDFEENMNRSETEACFFICGDNLSTKGFTYLTNSLFDYRSPENNGTRAEFILDSTHHKETYTEIAGMQRFGAFYMDY LYTMENTSGKGSTNQQDFSSGKSEDLGTVQEKSTKSLVIGPLDFRLDSSAVHRILKMIVCALEHEYEPYSRLKSDIKDENETILNPEEVA LLEEYIPTRHTSVTLLKCTCTISMAEFNLLDHLLPVIMGEKNSSNFMNTTNFQSLRPLPSIRILVDKINLEHSVPMYAEQLVHVVSSLTQ PSDNLLHYCYVHCYLKIFGFQAGLTSLDCSGSYCLPVPVIPSFSTALYGKLLKLPTCWTKRSQIAITEGIFELPNLTIQATRAQTLLLQA IYQSWSHLGNVSSSAVIEALINEIFLSIGVKSKNPLPTLEGSIQNVELKYCSTSLVKCASGTMGSIKICAKAPVDSGKEKLIPLLQGPSD TKDLHSTKWLNESRKPESLLAPDLMAFTIQVPQYIDYCHNSGAVLLCSIQGLAVNIDPILYTWLIYQPQKRTSRHMQQQPVVAVPLVMPV CRRKEDEVSIGSAPLAKQQSYQASEYASSPVKTKTVTESRPLSVPVKAMLNISESCRSPEERMKEFIGIVWNAVKHLTLQLEVQSCCVFI PNDSLPSPSTIVSGDIPGTVRSWYHGQTSMPGTLVLCLPQIKIISAGHKYMEPLQEIPFVIPRPILEEGDAFPWTISLHNFSIYTLLGKQ VTLCLVEPMGCTSTLAVTSQKLLATGPDTRHSFVVCLHVDLESLEIKCSNPQVQLFYELTDIMNKVWNKIQKRGNLNLSPTSPETMAGPV PTSPVRSSIGTAPPDTSTCSPSADIGTTTEGDSIQAGEESPFSDSVTLEQTTSNIGGTSGRVSLWMQWVLPKITIKLFAPDPENKGTEVC MVSELEDLSASIDVQDVYTKVKCKIESFNIDHYRSSLGEECWSLGQCGGVFLSCTDKLNRRTLLVRPISKQDPFSNCSGFFPSTTTKLLD GTHQQHGFLSLTYTKAVTKNVRHKLTSRNERRSFHKLSEGLMDGSPHFLHEILLSAQAFDIVLYFPLLNAIASIFQAKLPKTQKEKRKSP GQPMRTHTLTSRNLPLIYVNTSVIRIFIPKTEEMQPTVEANQAAKEDTVVLKIGSVAMAPQADNPLGRSVLRKDIYQRALNLGILRDPGS EIEDRQYQIDLQSINIGTAQWHQLKPEKESVSGGVVTETERNSQNPALEWNMASSIRRHQERRAILTPVLTDFSVRITGAPAVIFTKVVS PENLHTEEILVCGHSLEVNITTNLDFFLSVAQVQLLHQLIVANMTGLEPSNKAAEISKQEQKKVDIFDGGMAETSSRYSGAQDSGIGSDS VKIRIVQIEQHSGASQHRIARPSRQSSIVKNLNFIPFDIFITASRISLMTYSCMALSKSKSQEQKNNEKTDKSSLNLPEVDSDVAKPNQA CISTVTAEDLLRSSISFPSGKKIGVLSLESLHASTRSSARQALGITIVRQPGRRGTGDLQLEPFLYFIVSQPSLLLSCHHRKQRVEVSIF DAVLKGVASDYKCIDPGKTLPEALDYCTVWLQTVPGEIDSKSGIPPSFITLQIKDFLNGPADVNLDISKPLKANLSFTKLDQINLFLKKI KNAHSLAHSEETSAMSNTMVNKDDLPVSKYYRGKLSKPKIHGDGVQKISAQENMWRAVSCFQKISVQTTQIVISMETVPHTSKPCLLASL SNLNGSLSVKATQKVPGIILGSSFLLSINDFLLKTSLKERSRILIGPCCATANLEAKWCKHSGNPGPEQSIPKISIDLRGGLLQVFWGQE HLNCLVLLHELLNGYLNEEGNFEVQVSEPVPQMSSPVEKNQTFKSEQSSDDLRTGLFQYVQDAESLKLPGVYEVLFYNETEDCPGMMLWR YPEPRVLTLVRITPVPFNTTEDPDISTADLGDVLQVPCSLEYWDELQKVFVAFREFNLSESKVCELQLPDINLVNDQKKLVSSDLWRIVL NSSQNGADDQSSASESGSQSTCDPLVTPTALAACTRVDSCFTPWFVPSLCVSFQFAHLEFHLCHHLDQLGTAAPQYLQPFVSDRNMPSEL EYMIVSFREPHMYLRQWNNGSVCQEIQFLAQADCKLLECRNVTMQSVVKPFSIFGQMAVSSDVVEKLLDCTVIVDSVFVNLGQHVVHSLN TAIQAWQQNKCPEVEELVFSHFVICNDTQETLRFGQVDTDENILLASLHSHQYSWRSHKSPQLLHICIEGWGNWRWSEPFSVDHAGTFIR TIQYRGRTASLIIKVQQLNGVQKQIIICGRQIICSYLSQSIELKVVQHYIGQDGQAVVREHFDCLTAKQKLPSYILENNELTELCVKAKG DEDWSRDVCLESKAPEYSIVIQVPSSNSSIIYVWCTVLTLEPNSQVQQRMIVFSPLFIMRSHLPDPIIIHLEKRSLGLSETQIIPGKGQE KPLQNIEPDLVHHLTFQAREEYDPSDCAVPISTSLIKQIATKVHPGGTVNQILDEFYGPEKSLQPIWPYNKKDSDRNEQLSQWDSPMRVK LSIWKPYVRTLLIELLPWALLINESKWDLWLFEGEKIVLQVPAGKIIIPPNFQEAFQIGIYWANTNTVHKSVAIKLVHNLTSPKWKDGGN GEVVTLDEEAFVDTEIRLGAFPGHQKLCQFCISSMVQQGIQIIQIEDKTTIINNTPYQIFYKPQLSVCNPHSGKEAMWLMLQNDEPEDFV IATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETGKVHVTVDLKYYRPTEVDFLQGDCTKAKQKLNWKPRVAFDELVREMVHAD -------------------------------------------------------------- >98276_98276_4_VPS13B-GMDS_VPS13B_chr8_100836206_ENST00000358544_GMDS_chr6_1742820_ENST00000530927_length(transcript)=10227nt_BP=9516nt GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGATGACCATGAAAGCTGTGGTTCTAATTCTACCAACCGTAGTACTGCT GAGAGCACAAAATCATCAATCAAACCGCGGAGAATGCAGCAGGCTGCTCCTACAGATCCTGACTTACCACCAGGTTATGTGCAGAGTCTG ATTAGACGAGTTGTAAATAATGTAAACATTGTGATAAATAATCTCATACTAAAATATGTTGAAGATGATATCGTCCTTTCCGTCAATATC ACTTCTGCAGAATGTTATACAGTAGGTGAATTATGGGATCGTGCATTCATGGATATTTCTGCAACTGATTTGGTGCTGAGAAAGGTTATC AATTTTTCTGACTGTACAGTTTGTCTTGATAAACGGAATGCCAGTGGTAAAATAGAATTTTACCAGGATCCTTTATTATACAAATGTTCC TTCAGAACTCGTCTTCATTTTACATATGAAAACCTAAATTCCAAGATGCCATCTGTTATTAAAATTCATACTTTAGTGGAAAGTTTGAAA CTTTCTATCACAGATCAACAACTGCCTATGTTTATTCGTATAATGCAACTTGGAATTGCTCTTTACTATGGAGAAATAGGCAATTTTAAA GAAGGCGAAATAGAGGACCTTACTTGTCATAATAAAGATATGCTAGGAAACATTACAGGTTCTGAAGATGAAACAAGAATAGATATGCAA TATCCTGCTCAGCATAAAGGTCAAGAGTTATATTCACAGCAAGATGAGGAGCAGCCACAGGGATGGGTGTCATGGGCCTGGTCCTTTGTG CCTGCAATTGTGAGTTATGACGATGGCGAGGAAGACTTTGTTGGGAACGATCCTGCATCAACCATGCATCAACAAAAAGCACAGACTTTG AAGGATCCTATTGTTTCTATAGGATTTTATTGCACAAAGGCAACGGTGACTTTCAAACTCACAGAAATGCAAGTTGAGAGTAGTTATTAC AGTCCACAGAAAGTAAAATCTAAAGAAGTATTGTGTTGGGAACAAGAAGGAACTACAGTTGAGGCCCTTATGATGGGAGAACCTTTCTTT GATTGCCAGATTGGGTTTGTTGGTTGCAGAGCCATGTGCCTTAAAGGAATTATGGGTGTTAAAGATTTTGAAGAGAATATGAATAGAAGT GAAACTGAAGCCTGTTTCTTCATTTGTGGTGACAATTTGAGTACGAAAGGTTTCACATACCTTACAAATTCATTGTTTGATTACCGAAGC CCAGAAAATAATGGTACTCGCGCAGAATTTATCTTGGATTCAACTCATCATAAGGAGACATACACTGAGATAGCTGGAATGCAACGGTTT GGGGCTTTTTATATGGATTACCTGTATACAATGGAGAACACTAGTGGCAAAGGTTCCACAAATCAACAAGACTTTTCTTCAGGGAAAAGT GAAGATTTGGGAACAGTTCAGGAGAAGTCCACCAAAAGCCTTGTTATAGGTCCTCTTGATTTTCGTTTGGATAGCAGTGCGGTGCATAGG ATTTTGAAAATGATTGTGTGTGCCTTGGAACATGAATATGAACCATATAGCAGGCTAAAATCAGATATTAAGGATGAAAATGAAACAATA CTGAATCCTGAAGAGGTGGCTCTTCTGGAGGAATATATTCCTACTCGACATACAAGTGTTACTCTCCTCAAATGTACCTGCACAATTTCC ATGGCTGAATTCAACTTGCTGGACCATTTACTACCTGTCATTATGGGAGAAAAGAACTCAAGTAACTTCATGAATACTACAAACTTCCAG TCTCTTCGGCCTTTGCCATCCATTCGAATATTGGTGGATAAAATTAATCTGGAACATTCAGTGCCAATGTATGCTGAACAGTTGGTGCAT GTGGTCAGCAGCCTTACTCAACCTTCTGATAACCTGCTTCATTATTGTTATGTACACTGCTATCTTAAGATATTTGGTTTCCAGGCAGGA CTGACGTCTTTGGATTGCAGTGGATCTTACTGCTTACCTGTACCAGTTATTCCCTCTTTCAGCACTGCTCTTTATGGGAAACTTCTGAAA CTCCCCACATGCTGGACCAAAAGATCTCAGATTGCTATAACTGAAGGTATATTTGAACTTCCAAATCTCACAATTCAAGCTACAAGAGCA CAGACACTTCTCTTGCAAGCAATATATCAAAGTTGGTCTCATCTTGGAAATGTCAGCTCTTCCGCAGTGATTGAAGCTTTGATAAATGAA ATCTTCCTAAGTATAGGTGTGAAATCTAAGAATCCCCTGCCAACTCTTGAGGGCTCAATCCAGAATGTTGAATTGAAGTACTGCAGCACA TCATTGGTCAAATGTGCCTCTGGGACCATGGGATCAATAAAAATTTGTGCCAAAGCCCCAGTTGATAGTGGAAAAGAGAAGTTGATTCCC TTGCTTCAGGGTCCTTCTGACACTAAAGACCTTCATAGCACCAAGTGGCTCAATGAGAGTAGAAAGCCAGAGTCTCTCTTAGCTCCAGAT TTGATGGCCTTCACAATCCAAGTTCCACAATATATTGACTACTGCCACAATTCCGGTGCTGTACTTCTTTGCAGTATACAAGGACTAGCA GTTAATATTGACCCAATCTTATATACGTGGCTCATCTATCAGCCTCAGAAACGAACAAGTAGACATATGCAACAGCAGCCTGTGGTAGCT GTTCCTCTTGTTATGCCAGTTTGTAGAAGGAAAGAGGATGAGGTGTCTATTGGAAGTGCCCCCTTGGCAAAGCAGCAATCATATCAGGCC TCTGAATATGCCAGCAGCCCTGTAAAAACAAAAACGGTAACAGAATCCCGCCCATTGTCAGTTCCTGTTAAAGCCATGTTGAATATATCT GAAAGCTGTAGAAGTCCTGAAGAAAGAATGAAGGAATTTATTGGAATTGTTTGGAATGCAGTGAAGCATCTCACACTACAGCTTGAAGTA CAATCTTGTTGTGTGTTTATTCCAAATGATAGCCTGCCTTCCCCAAGTACAATTGTATCTGGTGACATTCCTGGAACAGTAAGAAGTTGG TACCATGGACAAACCAGCATGCCGGGAACACTTGTCCTCTGTTTGCCTCAAATAAAGATTATTAGTGCTGGGCACAAGTATATGGAACCT CTGCAGGAGATTCCATTTGTTATCCCACGACCCATCCTTGAAGAAGGTGATGCTTTTCCTTGGACGATCAGCTTGCATAATTTCAGCATA TATACCCTTCTTGGAAAACAAGTGACACTTTGCCTAGTGGAACCTATGGGTTGCACCTCCACTCTAGCTGTCACGTCTCAAAAACTGCTT GCTACGGGACCTGATACACGACATTCATTTGTTGTCTGTCTCCATGTTGACCTAGAGTCACTAGAGATAAAATGCTCTAATCCCCAGGTC CAGCTCTTCTATGAACTAACTGATATCATGAATAAGGTCTGGAACAAGATTCAGAAGAGAGGCAATCTCAACCTATCTCCAACCTCTCCA GAGACCATGGCAGGGCCTGTTCCTACTTCTCCAGTTAGAAGCAGTATAGGCACAGCTCCTCCAGATACCAGCACATGCAGCCCATCTGCT GACATTGGGACTACTACTGAGGGAGATTCTATACAAGCAGGTGAGGAATCACCATTCTCAGATTCTGTGACCTTGGAACAAACTACAAGT AATATTGGAGGAACCAGTGGACGTGTTAGTTTATGGATGCAGTGGGTGCTTCCCAAAATTACTATAAAGCTCTTTGCTCCAGATCCTGAA AATAAAGGCACAGAGGTTTGTATGGTCAGTGAACTAGAAGATCTCAGTGCTTCCATAGATGTCCAGGATGTATATACCAAAGTGAAATGT AAAATAGAGAGTTTCAATATTGATCACTATAGAAGCAGCCTTGGGGAAGAGTGTTGGTCTTTGGGGCAATGTGGAGGTGTCTTCCTTTCC TGTACTGACAAGCTGAACAGACGCACCTTGTTGGTTCGACCCATCAGCAAGCAGGACCCTTTCAGTAATTGCTCTGGCTTCTTTCCTTCT ACAACTACAAAACTTCTAGATGGCACTCATCAGCAGCATGGATTCCTCTCTCTGACATACACAAAAGCTGTAACAAAAAATGTCCGCCAC AAGTTAACATCAAGAAATGAGCGAAGAAGTTTTCATAAGTTATCTGAAGGCCTAATGGATGGTTCTCCTCATTTTCTTCATGAAATTCTT CTTTCAGCACAAGCTTTTGATATTGTTCTTTATTTTCCTTTACTTAATGCCATTGCAAGTATATTTCAAGCAAAACTACCAAAGACCCAA AAAGAGAAAAGAAAATCTCCTGGTCAGCCCATGAGGACCCATACACTGACATCCCGCAATTTACCTTTGATTTATGTCAACACAAGTGTA ATCAGAATTTTTATTCCAAAAACAGAAGAAATGCAGCCAACTGTTGAAGCTAATCAGGCAGCAAAAGAAGACACTGTGGTTTTGAAGATT GGCTCTGTTGCCATGGCTCCCCAGGCTGACAATCCCCTTGGCAGATCTGTCCTTAGGAAAGATATTTACCAGAGAGCCTTGAACTTAGGA ATTCTTCGAGATCCTGGATCAGAAATCGAAGACAGACAATACCAAATAGATCTGCAGTCCATCAATATTGGTACTGCACAGTGGCATCAA CTAAAACCAGAGAAGGAAAGTGTCTCAGGAGGGGTGGTAACAGAGACTGAAAGGAATTCTCAAAATCCAGCCCTTGAGTGGAATATGGCC AGCAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACTGGAGCACCTGCTGTC ATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGAGATTTTAGTGTGTGGCCATTCCTTAGAAGTGAATATAACCACAAAC CTGGACTTCTTCCTAAGTGTGGCTCAAGTTCAACTCTTACATCAGTTAATAGTAGCAAATATGACTGGACTGGAACCATCAAACAAGGCT GCAGAGATCTCTAAACAAGAACAGAAAAAAGTGGATATATTTGATGGAGGCATGGCTGAAACCTCATCTCGCTACAGTGGTGCTCAGGAT AGTGGAATTGGCAGTGACAGTGTTAAAATCAGAATAGTGCAAATAGAGCAGCACAGTGGTGCCAGTCAGCATCGCATTGCCCGTCCCTCA CGCCAGTCATCAATTGTAAAAAATCTAAATTTTATTCCCTTTGACATATTTATTACTGCAAGTAGAATCTCACTAATGACCTATTCCTGT ATGGCCTTATCCAAATCGAAATCACAAGAACAGAAGAATAATGAAAAAACAGACAAGAGTTCATTAAATCTCCCAGAAGTTGATTCAGAT GTTGCTAAGCCCAACCAGGCATGTATTTCCACGGTGACAGCAGAAGATCTCTTAAGGAGCAGCATTTCTTTTCCTTCAGGGAAAAAAATA GGGGTCCTCTCTCTTGAAAGTCTTCATGCATCCACAAGGTCATCTGCTAGACAAGCACTTGGTATAACTATTGTTCGGCAGCCTGGTCGA AGAGGAACTGGTGACTTACAGCTAGAGCCTTTTCTGTACTTTATTGTGTCCCAGCCTTCCTTGCTTCTGAGTTGTCACCACAGAAAGCAG CGAGTGGAAGTATCCATTTTTGATGCTGTGCTTAAAGGGGTGGCCTCTGATTACAAATGTATAGATCCTGGGAAGACTCTGCCTGAAGCC CTTGATTATTGCACTGTTTGGCTACAGACAGTGCCTGGAGAAATAGACAGCAAAAGTGGTATTCCACCTTCCTTTATAACACTACAGATT AAAGACTTTCTGAATGGACCAGCGGATGTCAATTTGGATATATCAAAGCCTTTGAAAGCAAACCTGAGTTTCACCAAACTGGATCAGATA AACCTTTTTTTAAAGAAGATAAAAAATGCACACAGTTTGGCACATAGTGAAGAGACTTCAGCCATGTCCAACACCATGGTGAATAAGGAT GATCTTCCAGTCTCCAAATATTACCGTGGAAAGTTGTCTAAACCCAAAATTCATGGTGATGGAGTGCAAAAGATTTCAGCTCAAGAAAAC ATGTGGAGAGCTGTTTCCTGCTTTCAAAAAATTTCTGTTCAAACTACTCAGATTGTGATCTCCATGGAAACTGTACCCCATACCAGCAAA CCATGCCTGTTAGCATCTCTCTCAAACCTCAATGGAAGCCTTAGTGTCAAGGCAACACAAAAAGTACCTGGCATAATTCTTGGGTCATCA TTTCTACTCAGTATAAACGATTTTCTCCTTAAAACAAGTCTCAAAGAAAGAAGCCGCATTCTGATAGGACCATGTTGTGCTACTGCCAAT CTGGAAGCTAAGTGGTGTAAACACAGCGGGAATCCAGGCCCAGAACAATCCATACCAAAAATATCCATTGACTTAAGAGGAGGTCTACTA CAGGTCTTCTGGGGTCAAGAACATTTGAATTGTTTAGTTCTTCTACATGAATTACTCAATGGATACCTTAATGAGGAGGGAAATTTTGAA GTACAAGTTTCTGAACCAGTGCCTCAAATGTCATCTCCTGTGGAAAAGAATCAGACATTTAAAAGTGAACAAAGTTCAGATGACCTACGG ACAGGTCTATTTCAGTATGTACAGGATGCTGAATCTTTGAAATTGCCTGGGGTCTATGAAGTCTTATTTTATAATGAAACTGAAGATTGC CCAGGGATGATGTTATGGAGATATCCAGAACCTAGAGTACTCACCCTTGTACGAATAACTCCTGTACCTTTTAACACCACAGAGGATCCA GATATTAGCACAGCAGACCTTGGTGATGTGCTACAGGTTCCTTGTAGCTTGGAATACTGGGATGAACTCCAGAAGGTTTTTGTTGCATTT AGAGAATTTAATCTGTCTGAAAGCAAAGTTTGTGAACTGCAGTTGCCGGATATCAATCTCGTGAATGACCAGAAGAAATTAGTATCTTCA GATCTTTGGAGAATTGTCTTGAACAGCAGTCAAAATGGAGCTGATGACCAAAGCTCTGCAAGTGAGTCTGGTTCTCAAAGCACTTGTGAT CCACTTGTGACTCCAACAGCCCTGGCTGCCTGTACCAGAGTTGACTCCTGCTTTACCCCATGGTTTGTCCCATCCCTTTGCGTTTCTTTC CAGTTTGCTCACCTGGAATTCCATCTTTGTCATCACCTTGACCAACTAGGCACAGCTGCACCACAGTACCTACAGCCATTTGTTTCCGAC AGAAATATGCCATCTGAACTAGAATACATGATTGTTTCCTTCAGAGAACCACACATGTATCTTCGACAGTGGAATAATGGTTCTGTCTGT CAGGAGATCCAGTTCTTAGCTCAAGCAGACTGTAAACTTCTAGAGTGCAGAAATGTCACTATGCAAAGTGTGGTGAAACCCTTCAGCATC TTCGGGCAGATGGCAGTTTCCAGCGATGTAGTGGAAAAGCTGCTTGACTGCACCGTGATAGTTGATTCTGTATTTGTAAACCTTGGACAG CATGTAGTCCATTCACTAAACACTGCAATACAAGCTTGGCAACAGAACAAATGCCCTGAGGTAGAGGAGTTGGTCTTCAGCCATTTTGTG ATCTGTAATGACACACAGGAGACACTGCGGTTTGGCCAGGTGGATACTGATGAAAATATTCTGCTGGCGAGTCTCCACAGTCACCAGTAC AGCTGGCGCTCTCACAAATCCCCACAGCTGTTACACATCTGTATTGAAGGTTGGGGCAACTGGCGTTGGTCAGAGCCTTTCAGTGTGGAC CATGCCGGGACTTTTATTAGAACAATTCAGTACAGGGGTCGAACTGCTTCTCTCATCATCAAGGTTCAGCAACTCAATGGAGTACAAAAA CAGATTATCATCTGTGGAAGACAGATCATCTGTAGTTACTTGTCTCAAAGCATAGAACTAAAAGTCGTTCAGCATTACATTGGTCAAGAT GGACAAGCTGTAGTTCGGGAACATTTTGACTGCCTCACAGCCAAACAGAAATTGCCTTCGTACATACTAGAAAACAATGAACTGACGGAG CTGTGTGTGAAGGCCAAAGGAGATGAAGACTGGTCAAGAGATGTGTGCCTGGAATCCAAAGCCCCTGAGTACAGCATTGTCATTCAGGTG CCATCTTCAAACAGTTCCATTATTTATGTCTGGTGCACAGTTTTGACTTTAGAACCCAACTCTCAAGTGCAACAACGAATGATTGTGTTC AGCCCTCTTTTTATCATGAGGAGTCATCTTCCAGACCCCATTATCATACATTTGGAGAAAAGGAGTCTGGGATTGAGTGAAACACAAATT ATTCCAGGAAAAGGGCAGGAAAAACCACTGCAAAACATAGAACCTGACCTTGTACATCACCTGACATTCCAAGCAAGAGAAGAATATGAT CCTTCAGATTGTGCAGTTCCCATCTCAACATCCCTCATTAAGCAAATAGCCACTAAGGTACACCCTGGAGGCACAGTTAATCAGATCCTT GACGAATTCTATGGGCCAGAAAAGTCGCTTCAACCCATATGGCCCTATAATAAGAAGGATTCTGACAGGAATGAACAGCTAAGTCAGTGG GATAGCCCAATGCGAGTGAAGCTGTCAATCTGGAAGCCATATGTTAGAACTTTGTTGATAGAACTTCTGCCCTGGGCCCTGCTTATCAAT GAATCCAAATGGGACCTCTGGCTATTTGAAGGAGAGAAAATTGTTCTACAGGTTCCTGCTGGCAAAATTATTATTCCTCCTAATTTTCAG GAAGCTTTTCAAATTGGAATATACTGGGCAAATACAAACACTGTGCACAAGTCAGTAGCAATTAAACTGGTCCATAACCTGACATCTCCA AAGTGGAAAGATGGAGGTAATGGTGAAGTTGTGACACTGGATGAAGAAGCGTTTGTTGATACTGAAATAAGACTTGGTGCTTTTCCAGGA CATCAGAAGTTATGTCAGTTCTGCATTTCCTCCATGGTACAGCAAGGTATACAAATTATTCAGATTGAAGACAAGACTACAATAATCAAT AATACACCATATCAAATATTTTATAAACCACAGCTATCTGTCTGCAATCCCCATTCTGGAAAGGAGGCTATGTGGTTGATGTTGCAGAAT GATGAGCCGGAGGACTTCGTTATAGCTACTGGGGAGGTCCATAGTGTCCGGGAATTTGTCGAGAAATCATTCTTGCACATTGGAAAAACC ATTGTGTGGGAAGGAAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATCTCAAGTACTACCGG CCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTTTCGATGAGCTGGTG AGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCCCGCCCTCCGGCTACA ATCCCCGCAGAGTCTCCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGCCCCTGCTGCCGCTGC GCTGTCCCGGCCGCAAGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGGTCGCTTTGCGTTTGT CGAAGCCTCCTCTGAATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTTGAAATTATGTTGTTACACAACAAATTGTGG >98276_98276_4_VPS13B-GMDS_VPS13B_chr8_100836206_ENST00000358544_GMDS_chr6_1742820_ENST00000530927_length(amino acids)=3250AA_BP=3135 MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL KLKDGIQDDHESCGSNSTNRSTAESTKSSIKPRRMQQAAPTDPDLPPGYVQSLIRRVVNNVNIVINNLILKYVEDDIVLSVNITSAECYT VGELWDRAFMDISATDLVLRKVINFSDCTVCLDKRNASGKIEFYQDPLLYKCSFRTRLHFTYENLNSKMPSVIKIHTLVESLKLSITDQQ LPMFIRIMQLGIALYYGEIGNFKEGEIEDLTCHNKDMLGNITGSEDETRIDMQYPAQHKGQELYSQQDEEQPQGWVSWAWSFVPAIVSYD DGEEDFVGNDPASTMHQQKAQTLKDPIVSIGFYCTKATVTFKLTEMQVESSYYSPQKVKSKEVLCWEQEGTTVEALMMGEPFFDCQIGFV GCRAMCLKGIMGVKDFEENMNRSETEACFFICGDNLSTKGFTYLTNSLFDYRSPENNGTRAEFILDSTHHKETYTEIAGMQRFGAFYMDY LYTMENTSGKGSTNQQDFSSGKSEDLGTVQEKSTKSLVIGPLDFRLDSSAVHRILKMIVCALEHEYEPYSRLKSDIKDENETILNPEEVA LLEEYIPTRHTSVTLLKCTCTISMAEFNLLDHLLPVIMGEKNSSNFMNTTNFQSLRPLPSIRILVDKINLEHSVPMYAEQLVHVVSSLTQ PSDNLLHYCYVHCYLKIFGFQAGLTSLDCSGSYCLPVPVIPSFSTALYGKLLKLPTCWTKRSQIAITEGIFELPNLTIQATRAQTLLLQA IYQSWSHLGNVSSSAVIEALINEIFLSIGVKSKNPLPTLEGSIQNVELKYCSTSLVKCASGTMGSIKICAKAPVDSGKEKLIPLLQGPSD TKDLHSTKWLNESRKPESLLAPDLMAFTIQVPQYIDYCHNSGAVLLCSIQGLAVNIDPILYTWLIYQPQKRTSRHMQQQPVVAVPLVMPV CRRKEDEVSIGSAPLAKQQSYQASEYASSPVKTKTVTESRPLSVPVKAMLNISESCRSPEERMKEFIGIVWNAVKHLTLQLEVQSCCVFI PNDSLPSPSTIVSGDIPGTVRSWYHGQTSMPGTLVLCLPQIKIISAGHKYMEPLQEIPFVIPRPILEEGDAFPWTISLHNFSIYTLLGKQ VTLCLVEPMGCTSTLAVTSQKLLATGPDTRHSFVVCLHVDLESLEIKCSNPQVQLFYELTDIMNKVWNKIQKRGNLNLSPTSPETMAGPV PTSPVRSSIGTAPPDTSTCSPSADIGTTTEGDSIQAGEESPFSDSVTLEQTTSNIGGTSGRVSLWMQWVLPKITIKLFAPDPENKGTEVC MVSELEDLSASIDVQDVYTKVKCKIESFNIDHYRSSLGEECWSLGQCGGVFLSCTDKLNRRTLLVRPISKQDPFSNCSGFFPSTTTKLLD GTHQQHGFLSLTYTKAVTKNVRHKLTSRNERRSFHKLSEGLMDGSPHFLHEILLSAQAFDIVLYFPLLNAIASIFQAKLPKTQKEKRKSP GQPMRTHTLTSRNLPLIYVNTSVIRIFIPKTEEMQPTVEANQAAKEDTVVLKIGSVAMAPQADNPLGRSVLRKDIYQRALNLGILRDPGS EIEDRQYQIDLQSINIGTAQWHQLKPEKESVSGGVVTETERNSQNPALEWNMASSIRRHQERRAILTPVLTDFSVRITGAPAVIFTKVVS PENLHTEEILVCGHSLEVNITTNLDFFLSVAQVQLLHQLIVANMTGLEPSNKAAEISKQEQKKVDIFDGGMAETSSRYSGAQDSGIGSDS VKIRIVQIEQHSGASQHRIARPSRQSSIVKNLNFIPFDIFITASRISLMTYSCMALSKSKSQEQKNNEKTDKSSLNLPEVDSDVAKPNQA CISTVTAEDLLRSSISFPSGKKIGVLSLESLHASTRSSARQALGITIVRQPGRRGTGDLQLEPFLYFIVSQPSLLLSCHHRKQRVEVSIF DAVLKGVASDYKCIDPGKTLPEALDYCTVWLQTVPGEIDSKSGIPPSFITLQIKDFLNGPADVNLDISKPLKANLSFTKLDQINLFLKKI KNAHSLAHSEETSAMSNTMVNKDDLPVSKYYRGKLSKPKIHGDGVQKISAQENMWRAVSCFQKISVQTTQIVISMETVPHTSKPCLLASL SNLNGSLSVKATQKVPGIILGSSFLLSINDFLLKTSLKERSRILIGPCCATANLEAKWCKHSGNPGPEQSIPKISIDLRGGLLQVFWGQE HLNCLVLLHELLNGYLNEEGNFEVQVSEPVPQMSSPVEKNQTFKSEQSSDDLRTGLFQYVQDAESLKLPGVYEVLFYNETEDCPGMMLWR YPEPRVLTLVRITPVPFNTTEDPDISTADLGDVLQVPCSLEYWDELQKVFVAFREFNLSESKVCELQLPDINLVNDQKKLVSSDLWRIVL NSSQNGADDQSSASESGSQSTCDPLVTPTALAACTRVDSCFTPWFVPSLCVSFQFAHLEFHLCHHLDQLGTAAPQYLQPFVSDRNMPSEL EYMIVSFREPHMYLRQWNNGSVCQEIQFLAQADCKLLECRNVTMQSVVKPFSIFGQMAVSSDVVEKLLDCTVIVDSVFVNLGQHVVHSLN TAIQAWQQNKCPEVEELVFSHFVICNDTQETLRFGQVDTDENILLASLHSHQYSWRSHKSPQLLHICIEGWGNWRWSEPFSVDHAGTFIR TIQYRGRTASLIIKVQQLNGVQKQIIICGRQIICSYLSQSIELKVVQHYIGQDGQAVVREHFDCLTAKQKLPSYILENNELTELCVKAKG DEDWSRDVCLESKAPEYSIVIQVPSSNSSIIYVWCTVLTLEPNSQVQQRMIVFSPLFIMRSHLPDPIIIHLEKRSLGLSETQIIPGKGQE KPLQNIEPDLVHHLTFQAREEYDPSDCAVPISTSLIKQIATKVHPGGTVNQILDEFYGPEKSLQPIWPYNKKDSDRNEQLSQWDSPMRVK LSIWKPYVRTLLIELLPWALLINESKWDLWLFEGEKIVLQVPAGKIIIPPNFQEAFQIGIYWANTNTVHKSVAIKLVHNLTSPKWKDGGN GEVVTLDEEAFVDTEIRLGAFPGHQKLCQFCISSMVQQGIQIIQIEDKTTIINNTPYQIFYKPQLSVCNPHSGKEAMWLMLQNDEPEDFV IATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETGKVHVTVDLKYYRPTEVDFLQGDCTKAKQKLNWKPRVAFDELVREMVHAD -------------------------------------------------------------- >98276_98276_5_VPS13B-GMDS_VPS13B_chr8_100844880_ENST00000357162_GMDS_chr6_1726746_ENST00000380815_length(transcript)=10317nt_BP=9725nt GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGATGACCATGAAAGCTGTGGTTCTAATTCTACCAACCGTAGTACTGCT GAGAGCACAAAATCATCAATCAAACCGCGGAGAATGCAGCAGGCTGCTCCTACAGATCCTGACTTACCACCAGGTTATGTGCAGAGTCTG ATTAGACGAGTTGTAAATAATGTAAACATTGTGATAAATAATCTCATACTAAAATATGTTGAAGATGATATCGTCCTTTCCGTCAATATC ACTTCTGCAGAATGTTATACAGTAGGTGAATTATGGGATCGTGCATTCATGGATATTTCTGCAACTGATTTGGTGCTGAGAAAGGTTATC AATTTTTCTGACTGTACAGTTTGTCTTGATAAACGGAATGCCAGTGGTAAAATAGAATTTTACCAGGATCCTTTATTATACAAATGTTCC TTCAGAACTCGTCTTCATTTTACATATGAAAACCTAAATTCCAAGATGCCATCTGTTATTAAAATTCATACTTTAGTGGAAAGTTTGAAA CTTTCTATCACAGATCAACAACTGCCTATGTTTATTCGTATAATGCAACTTGGAATTGCTCTTTACTATGGAGAAATAGGCAATTTTAAA GAAGGCGAAATAGAGGACCTTACTTGTCATAATAAAGATATGCTAGGAAACATTACAGGTTCTGAAGATGAAACAAGAATAGATATGCAA TATCCTGCTCAGCATAAAGGTCAAGAGTTATATTCACAGCAAGATGAGGAGCAGCCACAGGGATGGGTGTCATGGGCCTGGTCCTTTGTG CCTGCAATTGTGAGTTATGACGATGGCGAGGAAGACTTTGTTGGGAACGATCCTGCATCAACCATGCATCAACAAAAAGCACAGACTTTG AAGGATCCTATTGTTTCTATAGGATTTTATTGCACAAAGGCAACGGTGACTTTCAAACTCACAGAAATGCAAGTTGAGAGTAGTTATTAC AGTCCACAGAAAGTAAAATCTAAAGAAGTATTGTGTTGGGAACAAGAAGGAACTACAGTTGAGGCCCTTATGATGGGAGAACCTTTCTTT GATTGCCAGATTGGGTTTGTTGGTTGCAGAGCCATGTGCCTTAAAGGAATTATGGGTGTTAAAGATTTTGAAGAGAATATGAATAGAAGT GAAACTGAAGCCTGTTTCTTCATTTGTGGTGACAATTTGAGTACGAAAGGTTTCACATACCTTACAAATTCATTGTTTGATTACCGAAGC CCAGAAAATAATGGTACTCGCGCAGAATTTATCTTGGATTCAACTCATCATAAGGAGACATACACTGAGATAGCTGGAATGCAACGGTTT GGGGCTTTTTATATGGATTACCTGTATACAATGGAGAACACTAGTGGCAAAGGTTCCACAAATCAACAAGACTTTTCTTCAGGGAAAAGT GAAGATTTGGGAACAGTTCAGGAGAAGTCCACCAAAAGCCTTGTTATAGGTCCTCTTGATTTTCGTTTGGATAGCAGTGCGGTGCATAGG ATTTTGAAAATGATTGTGTGTGCCTTGGAACATGAATATGAACCATATAGCAGGCTAAAATCAGATATTAAGGATGAAAATGAAACAATA CTGAATCCTGAAGAGGTGGCTCTTCTGGAGGAATATATTCCTACTCGACATACAAGTGTTACTCTCCTCAAATGTACCTGCACAATTTCC ATGGCTGAATTCAACTTGCTGGACCATTTACTACCTGTCATTATGGGAGAAAAGAACTCAAGTAACTTCATGAATACTACAAACTTCCAG TCTCTTCGGCCTTTGCCATCCATTCGAATATTGGTGGATAAAATTAATCTGGAACATTCAGTGCCAATGTATGCTGAACAGTTGGTGCAT GTGGTCAGCAGCCTTACTCAACCTTCTGATAACCTGCTTCATTATTGTTATGTACACTGCTATCTTAAGATATTTGGTTTCCAGGCAGGA CTGACGTCTTTGGATTGCAGTGGATCTTACTGCTTACCTGTACCAGTTATTCCCTCTTTCAGCACTGCTCTTTATGGGAAACTTCTGAAA CTCCCCACATGCTGGACCAAAAGATCTCAGATTGCTATAACTGAAGGTATATTTGAACTTCCAAATCTCACAATTCAAGCTACAAGAGCA CAGACACTTCTCTTGCAAGCAATATATCAAAGTTGGTCTCATCTTGGAAATGTCAGCTCTTCCGCAGTGATTGAAGCTTTGATAAATGAA ATCTTCCTAAGTATAGGTGTGAAATCTAAGAATCCCCTGCCAACTCTTGAGGGCTCAATCCAGAATGTTGAATTGAAGTACTGCAGCACA TCATTGGTCAAATGTGCCTCTGGGACCATGGGATCAATAAAAATTTGTGCCAAAGCCCCAGTTGATAGTGGAAAAGAGAAGTTGATTCCC TTGCTTCAGGGTCCTTCTGACACTAAAGACCTTCATAGCACCAAGTGGCTCAATGAGAGTAGAAAGCCAGAGTCTCTCTTAGCTCCAGAT TTGATGGCCTTCACAATCCAAGTTCCACAATATATTGACTACTGCCACAATTCCGGTGCTGTACTTCTTTGCAGTATACAAGGACTAGCA GTTAATATTGACCCAATCTTATATACGTGGCTCATCTATCAGCCTCAGAAACGAACAAGTAGACATATGCAACAGCAGCCTGTGGTAGCT GTTCCTCTTGTTATGCCAGTTTGTAGAAGGAAAGAGGATGAGGTGTCTATTGGAAGTGCCCCCTTGGCAAAGCAGCAATCATATCAGGCC TCTGAATATGCCAGCAGCCCTGTAAAAACAAAAACGGTAACAGAATCCCGCCCATTGTCAGTTCCTGTTAAAGCCATGTTGAATATATCT GAAAGCTGTAGAAGTCCTGAAGAAAGAATGAAGGAATTTATTGGAATTGTTTGGAATGCAGTGAAGCATCTCACACTACAGCTTGAAGTA CAATCTTGTTGTGTGTTTATTCCAAATGATAGCCTGCCTTCCCCAAGTACAATTGTATCTGGTGACATTCCTGGAACAGTAAGAAGTTGG TACCATGGACAAACCAGCATGCCGGGAACACTTGTCCTCTGTTTGCCTCAAATAAAGATTATTAGTGCTGGGCACAAGTATATGGAACCT CTGCAGGAGATTCCATTTGTTATCCCACGACCCATCCTTGAAGAAGGTGATGCTTTTCCTTGGACGATCAGCTTGCATAATTTCAGCATA TATACCCTTCTTGGAAAACAAGTGACACTTTGCCTAGTGGAACCTATGGGTTGCACCTCCACTCTAGCTGTCACGTCTCAAAAACTGCTT GCTACGGGACCTGATACACGACATTCATTTGTTGTCTGTCTCCATGTTGACCTAGAGTCACTAGAGATAAAATGCTCTAATCCCCAGGTC CAGCTCTTCTATGAACTAACTGATATCATGAATAAGGTCTGGAACAAGATTCAGAAGAGAGGCAATCTCAACCTATCTCCAACCTCTCCA GAGACCATGGCAGGGCCTGTTCCTACTTCTCCAGTTAGAAGCAGTATAGGCACAGCTCCTCCAGATACCAGCACATGCAGCCCATCTGCT GACATTGGGACTACTACTGAGGGAGATTCTATACAAGCAGGTGAGGAATCACCATTCTCAGATTCTGTGACCTTGGAACAAACTACAAGT AATATTGGAGGAACCAGTGGACGTGTTAGTTTATGGATGCAGTGGGTGCTTCCCAAAATTACTATAAAGCTCTTTGCTCCAGATCCTGAA AATAAAGGCACAGAGGTTTGTATGGTCAGTGAACTAGAAGATCTCAGTGCTTCCATAGATGTCCAGGATGTATATACCAAAGTGAAATGT AAAATAGAGAGTTTCAATATTGATCACTATAGAAGCAGGCCAGGGGAAGGTTGGCAGTCAGGACATTTTGAAGGAGTATTTCTACAATGC AAAGAAAAATCTGTGACAACTACAAAACTTCTAGATGGCACTCATCAGCAGCATGGATTCCTCTCTCTGACATACACAAAAGCTGTAACA AAAAATGTCCGCCACAAGTTAACATCAAGAAATGAGCGAAGAAGTTTTCATAAGTTATCTGAAGGCCTAATGGATGGTTCTCCTCATTTT CTTCATGAAATTCTTCTTTCAGCACAAGCTTTTGATATTGTTCTTTATTTTCCTTTACTTAATGCCATTGCAAGTATATTTCAAGCAAAA CTACCAAAGACCCAAAAAGAGAAAAGAAAATCTCCTGGTCAGCCCATGAGGACCCATACACTGACATCCCGCAATTTACCTTTGATTTAT GTCAACACAAGTGTAATCAGAATTTTTATTCCAAAAACAGAAGAAATGCAGCCAACTGTTGAAGCTAATCAGGCAGCAAAAGAAGACACT GTGGTTTTGAAGATTGGCTCTGTTGCCATGGCTCCCCAGGCTGACAATCCCCTTGGCAGATCTGTCCTTAGGAAAGATATTTACCAGAGA GCCTTGAACTTAGGAATTCTTCGAGATCCTGGATCAGAAATCGAAGACAGACAATACCAAATAGATCTGCAGTCCATCAATATTGGTACT GCACAGTGGCATCAACTAAAACCAGAGAAGGAAAGTGTCTCAGGAGGGGTGGTAACAGAGACTGAAAGGAATTCTCAAAATCCAGCCCTT GAGTGGAATATGGCCAGCAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACT GGAGCACCTGCTGTCATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGAGATTTTAGTGTGTGGCCATTCCTTAGAAGTG AATATAACCACAAACCTGGACTTCTTCCTAAGTGTGGCTCAAGTTCAACTCTTACATCAGTTAATAGTAGCAAATATGACTGGACTGGAA CCATCAAACAAGGCTGCAGAGATCTCTAAACAAGAACAGAAAAAAGTGGATATATTTGATGGAGGCATGGCTGAAACCTCATCTCGCTAC AGTGGTGCTCAGGATAGTGGAATTGGCAGTGACAGTGTTAAAATCAGAATAGTGCAAATAGAGCAGCACAGTGGTGCCAGTCAGCATCGC ATTGCCCGTCCCTCACGCCAGTCATCAATTGTAAAAAATCTAAATTTTATTCCCTTTGACATATTTATTACTGCAAGTAGAATCTCACTA ATGACCTATTCCTGTATGGCCTTATCCAAATCGAAATCACAAGAACAGAAGAATAATGAAAAAACAGACAAGAGTTCATTAAATCTCCCA GAAGTTGATTCAGATGTTGCTAAGCCCAACCAGGCATGTATTTCCACGGTGACAGCAGAAGATCTCTTAAGGAGCAGCATTTCTTTTCCT TCAGGGAAAAAAATAGGGGTCCTCTCTCTTGAAAGTCTTCATGCATCCACAAGGTCATCTGCTAGACAAGCACTTGGTATAACTATTGTT CGGCAGCCTGGTCGAAGAGGAACTGGTGACTTACAGCTAGAGCCTTTTCTGTACTTTATTGTGTCCCAGCCTTCCTTGCTTCTGAGTTGT CACCACAGAAAGCAGCGAGTGGAAGTATCCATTTTTGATGCTGTGCTTAAAGGGGTGGCCTCTGATTACAAATGTATAGATCCTGGGAAG ACTCTGCCTGAAGCCCTTGATTATTGCACTGTTTGGCTACAGACAGTGCCTGGAGAAATAGACAGCAAAAGTGGTATTCCACCTTCCTTT ATAACACTACAGATTAAAGACTTTCTGAATGGACCAGCGGATGTCAATTTGGATATATCAAAGCCTTTGAAAGCAAACCTGAGTTTCACC AAACTGGATCAGATAAACCTTTTTTTAAAGAAGATAAAAAATGCACACAGTTTGGCACATAGTGAAGAGACTTCAGCCATGTCCAACACC ATGGTGAATAAGGATGATCTTCCAGTCTCCAAATATTACCGTGGAAAGTTGTCTAAACCCAAAATTCATGGTGATGGAGTGCAAAAGATT TCAGCTCAAGAAAACATGTGGAGAGCTGTTTCCTGCTTTCAAAAAATTTCTGTTCAAACTACTCAGATTGTGATCTCCATGGAAACTGTA CCCCATACCAGCAAACCATGCCTGTTAGCATCTCTCTCAAACCTCAATGGAAGCCTTAGTGTCAAGGCAACACAAAAAGTACCTGGCATA ATTCTTGGGTCATCATTTCTACTCAGTATAAACGATTTTCTCCTTAAAACAAGTCTCAAAGAAAGAAGCCGCATTCTGATAGGACCATGT TGTGCTACTGCCAATCTGGAAGCTAAGTGGTGTAAACACAGCGGGAATCCAGGCCCAGAACAATCCATACCAAAAATATCCATTGACTTA AGAGGAGGTCTACTACAGGTCTTCTGGGGTCAAGAACATTTGAATTGTTTAGTTCTTCTACATGAATTACTCAATGGATACCTTAATGAG GAGGGAAATTTTGAAGTACAAGTTTCTGAACCAGTGCCTCAAATGTCATCTCCTGTGGAAAAGAATCAGACATTTAAAAGTGAACAAAGT TCAGATGACCTACGGACAGGTCTATTTCAGTATGTACAGGATGCTGAATCTTTGAAATTGCCTGGGGTCTATGAAGTCTTATTTTATAAT GAAACTGAAGATTGCCCAGGGATGATGTTATGGAGATATCCAGAACCTAGAGTACTCACCCTTGTACGAATAACTCCTGTACCTTTTAAC ACCACAGAGGATCCAGATATTAGCACAGCAGACCTTGGTGATGTGCTACAGGTTCCTTGTAGCTTGGAATACTGGGATGAACTCCAGAAG GTTTTTGTTGCATTTAGAGAATTTAATCTGTCTGAAAGCAAAGTTTGTGAACTGCAGTTGCCGGATATCAATCTCGTGAATGACCAGAAG AAATTAGTATCTTCAGATCTTTGGAGAATTGTCTTGAACAGCAGTCAAAATGGAGCTGATGACCAAAGCTCTGCAAGTGAGTCTGGTTCT CAAAGCACTTGTGATCCACTTGTGACTCCAACAGCCCTGGCTGCCTGTACCAGAGTTGACTCCTGCTTTACCCCATGGTTTGTCCCATCC CTTTGCGTTTCTTTCCAGTTTGCTCACCTGGAATTCCATCTTTGTCATCACCTTGACCAACTAGGCACAGCTGCACCACAGTACCTACAG CCATTTGTTTCCGACAGAAATATGCCATCTGAACTAGAATACATGATTGTTTCCTTCAGAGAACCACACATGTATCTTCGACAGTGGAAT AATGGTTCTGTCTGTCAGGAGATCCAGTTCTTAGCTCAAGCAGACTGTAAACTTCTAGAGTGCAGAAATGTCACTATGCAAAGTGTGGTG AAACCCTTCAGCATCTTCGGGCAGATGGCAGTTTCCAGCGATGTAGTGGAAAAGCTGCTTGACTGCACCGTGATAGTTGATTCTGTATTT GTAAACCTTGGACAGCATGTAGTCCATTCACTAAACACTGCAATACAAGCTTGGCAACAGAACAAATGCCCTGAGGTAGAGGAGTTGGTC TTCAGCCATTTTGTGATCTGTAATGACACACAGGAGACACTGCGGTTTGGCCAGGTGGATACTGATGAAAATATTCTGCTGGCGAGTCTC CACAGTCACCAGTACAGCTGGCGCTCTCACAAATCCCCACAGCTGTTACACATCTGTATTGAAGGTTGGGGCAACTGGCGTTGGTCAGAG CCTTTCAGTGTGGACCATGCCGGGACTTTTATTAGAACAATTCAGTACAGGGGTCGAACTGCTTCTCTCATCATCAAGGTTCAGCAACTC AATGGAGTACAAAAACAGATTATCATCTGTGGAAGACAGATCATCTGTAGTTACTTGTCTCAAAGCATAGAACTAAAAGTCGTTCAGCAT TACATTGGTCAAGATGGACAAGCTGTAGTTCGGGAACATTTTGACTGCCTCACAGCCAAACAGAAATTGCCTTCGTACATACTAGAAAAC AATGAACTGACGGAGCTGTGTGTGAAGGCCAAAGGAGATGAAGACTGGTCAAGAGATGTGTGCCTGGAATCCAAAGCCCCTGAGTACAGC ATTGTCATTCAGGTGCCATCTTCAAACAGTTCCATTATTTATGTCTGGTGCACAGTTTTGACTTTAGAACCCAACTCTCAAGTGCAACAA CGAATGATTGTGTTCAGCCCTCTTTTTATCATGAGGAGTCATCTTCCAGACCCCATTATCATACATTTGGAGAAAAGGAGTCTGGGATTG AGTGAAACACAAATTATTCCAGGAAAAGGGCAGGAAAAACCACTGCAAAACATAGAACCTGACCTTGTACATCACCTGACATTCCAAGCA AGAGAAGAATATGATCCTTCAGATTGTGCAGTTCCCATCTCAACATCCCTCATTAAGCAAATAGCCACTAAGGTACACCCTGGAGGCACA GTTAATCAGATCCTTGACGAATTCTATGGGCCAGAAAAGTCGCTTCAACCCATATGGCCCTATAATAAGAAGGATTCTGACAGGAATGAA CAGCTAAGTCAGTGGGATAGCCCAATGCGAGTGAAGCTGTCAATCTGGAAGCCATATGTTAGAACTTTGTTGATAGAACTTCTGCCCTGG GCCCTGCTTATCAATGAATCCAAATGGGACCTCTGGCTATTTGAAGGAGAGAAAATTGTTCTACAGGTTCCTGCTGGCAAAATTATTATT CCTCCTAATTTTCAGGAAGCTTTTCAAATTGGAATATACTGGGCAAATACAAACACTGTGCACAAGTCAGTAGCAATTAAACTGGTCCAT AACCTGACATCTCCAAAGTGGAAAGATGGAGGTAATGGTGAAGTTGTGACACTGGATGAAGAAGCGTTTGTTGATACTGAAATAAGACTT GGTGCTTTTCCAGGACATCAGAAGTTATGTCAGTTCTGCATTTCCTCCATGGTACAGCAAGGTATACAAATTATTCAGATTGAAGACAAG ACTACAATAATCAATAATACACCATATCAAATATTTTATAAACCACAGCTATCTGTCTGCAATCCCCATTCTGGAAAGGAGTATTTTCGT GTTCCAGACAGTGCTACTTTTAGCATTTGCCCAGGTGGAGAGCAGCCTGCTATGAAATCCAGCTCCCTTCCTTGCTGGGACTTGATGCCT GACATCAGTCAGTCAGTACTGGATGCATCCCTGCTTCAGAAACAGATCATGCTGGGCTTTTCTCCTGCCCCAGGTGCTGACAGCTCACAG TGCTGGAGCCTGCCAGCTATAGTTAGACCAGAGTTTCCCAGACAGAGTGTGGCAGTACCCCTCGGGAATTTCCGGGAAAATGGATTCTGT ACCAGGTGGGAAGGAAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATCTCAAGTACTACCGG CCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTTTCGATGAGCTGGTG AGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCCCGCCCTCCGGCTACA ATCCCCGCAGAGTCTCCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGCCCCTGCTGCCGCTGC GCTGTCCCGGCCGCAAGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGGTCGCTTTGCGTTTGT CGAAGCCTCCTCTGAATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTTGAAATTATGTTGTTACACAACAAATTGTGG >98276_98276_5_VPS13B-GMDS_VPS13B_chr8_100844880_ENST00000357162_GMDS_chr6_1726746_ENST00000380815_length(amino acids)=3280AA_BP=3204 MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL KLKDGIQDDHESCGSNSTNRSTAESTKSSIKPRRMQQAAPTDPDLPPGYVQSLIRRVVNNVNIVINNLILKYVEDDIVLSVNITSAECYT VGELWDRAFMDISATDLVLRKVINFSDCTVCLDKRNASGKIEFYQDPLLYKCSFRTRLHFTYENLNSKMPSVIKIHTLVESLKLSITDQQ LPMFIRIMQLGIALYYGEIGNFKEGEIEDLTCHNKDMLGNITGSEDETRIDMQYPAQHKGQELYSQQDEEQPQGWVSWAWSFVPAIVSYD DGEEDFVGNDPASTMHQQKAQTLKDPIVSIGFYCTKATVTFKLTEMQVESSYYSPQKVKSKEVLCWEQEGTTVEALMMGEPFFDCQIGFV GCRAMCLKGIMGVKDFEENMNRSETEACFFICGDNLSTKGFTYLTNSLFDYRSPENNGTRAEFILDSTHHKETYTEIAGMQRFGAFYMDY LYTMENTSGKGSTNQQDFSSGKSEDLGTVQEKSTKSLVIGPLDFRLDSSAVHRILKMIVCALEHEYEPYSRLKSDIKDENETILNPEEVA LLEEYIPTRHTSVTLLKCTCTISMAEFNLLDHLLPVIMGEKNSSNFMNTTNFQSLRPLPSIRILVDKINLEHSVPMYAEQLVHVVSSLTQ PSDNLLHYCYVHCYLKIFGFQAGLTSLDCSGSYCLPVPVIPSFSTALYGKLLKLPTCWTKRSQIAITEGIFELPNLTIQATRAQTLLLQA IYQSWSHLGNVSSSAVIEALINEIFLSIGVKSKNPLPTLEGSIQNVELKYCSTSLVKCASGTMGSIKICAKAPVDSGKEKLIPLLQGPSD TKDLHSTKWLNESRKPESLLAPDLMAFTIQVPQYIDYCHNSGAVLLCSIQGLAVNIDPILYTWLIYQPQKRTSRHMQQQPVVAVPLVMPV CRRKEDEVSIGSAPLAKQQSYQASEYASSPVKTKTVTESRPLSVPVKAMLNISESCRSPEERMKEFIGIVWNAVKHLTLQLEVQSCCVFI PNDSLPSPSTIVSGDIPGTVRSWYHGQTSMPGTLVLCLPQIKIISAGHKYMEPLQEIPFVIPRPILEEGDAFPWTISLHNFSIYTLLGKQ VTLCLVEPMGCTSTLAVTSQKLLATGPDTRHSFVVCLHVDLESLEIKCSNPQVQLFYELTDIMNKVWNKIQKRGNLNLSPTSPETMAGPV PTSPVRSSIGTAPPDTSTCSPSADIGTTTEGDSIQAGEESPFSDSVTLEQTTSNIGGTSGRVSLWMQWVLPKITIKLFAPDPENKGTEVC MVSELEDLSASIDVQDVYTKVKCKIESFNIDHYRSRPGEGWQSGHFEGVFLQCKEKSVTTTKLLDGTHQQHGFLSLTYTKAVTKNVRHKL TSRNERRSFHKLSEGLMDGSPHFLHEILLSAQAFDIVLYFPLLNAIASIFQAKLPKTQKEKRKSPGQPMRTHTLTSRNLPLIYVNTSVIR IFIPKTEEMQPTVEANQAAKEDTVVLKIGSVAMAPQADNPLGRSVLRKDIYQRALNLGILRDPGSEIEDRQYQIDLQSINIGTAQWHQLK PEKESVSGGVVTETERNSQNPALEWNMASSIRRHQERRAILTPVLTDFSVRITGAPAVIFTKVVSPENLHTEEILVCGHSLEVNITTNLD FFLSVAQVQLLHQLIVANMTGLEPSNKAAEISKQEQKKVDIFDGGMAETSSRYSGAQDSGIGSDSVKIRIVQIEQHSGASQHRIARPSRQ SSIVKNLNFIPFDIFITASRISLMTYSCMALSKSKSQEQKNNEKTDKSSLNLPEVDSDVAKPNQACISTVTAEDLLRSSISFPSGKKIGV LSLESLHASTRSSARQALGITIVRQPGRRGTGDLQLEPFLYFIVSQPSLLLSCHHRKQRVEVSIFDAVLKGVASDYKCIDPGKTLPEALD YCTVWLQTVPGEIDSKSGIPPSFITLQIKDFLNGPADVNLDISKPLKANLSFTKLDQINLFLKKIKNAHSLAHSEETSAMSNTMVNKDDL PVSKYYRGKLSKPKIHGDGVQKISAQENMWRAVSCFQKISVQTTQIVISMETVPHTSKPCLLASLSNLNGSLSVKATQKVPGIILGSSFL LSINDFLLKTSLKERSRILIGPCCATANLEAKWCKHSGNPGPEQSIPKISIDLRGGLLQVFWGQEHLNCLVLLHELLNGYLNEEGNFEVQ VSEPVPQMSSPVEKNQTFKSEQSSDDLRTGLFQYVQDAESLKLPGVYEVLFYNETEDCPGMMLWRYPEPRVLTLVRITPVPFNTTEDPDI STADLGDVLQVPCSLEYWDELQKVFVAFREFNLSESKVCELQLPDINLVNDQKKLVSSDLWRIVLNSSQNGADDQSSASESGSQSTCDPL VTPTALAACTRVDSCFTPWFVPSLCVSFQFAHLEFHLCHHLDQLGTAAPQYLQPFVSDRNMPSELEYMIVSFREPHMYLRQWNNGSVCQE IQFLAQADCKLLECRNVTMQSVVKPFSIFGQMAVSSDVVEKLLDCTVIVDSVFVNLGQHVVHSLNTAIQAWQQNKCPEVEELVFSHFVIC NDTQETLRFGQVDTDENILLASLHSHQYSWRSHKSPQLLHICIEGWGNWRWSEPFSVDHAGTFIRTIQYRGRTASLIIKVQQLNGVQKQI IICGRQIICSYLSQSIELKVVQHYIGQDGQAVVREHFDCLTAKQKLPSYILENNELTELCVKAKGDEDWSRDVCLESKAPEYSIVIQVPS SNSSIIYVWCTVLTLEPNSQVQQRMIVFSPLFIMRSHLPDPIIIHLEKRSLGLSETQIIPGKGQEKPLQNIEPDLVHHLTFQAREEYDPS DCAVPISTSLIKQIATKVHPGGTVNQILDEFYGPEKSLQPIWPYNKKDSDRNEQLSQWDSPMRVKLSIWKPYVRTLLIELLPWALLINES KWDLWLFEGEKIVLQVPAGKIIIPPNFQEAFQIGIYWANTNTVHKSVAIKLVHNLTSPKWKDGGNGEVVTLDEEAFVDTEIRLGAFPGHQ KLCQFCISSMVQQGIQIIQIEDKTTIINNTPYQIFYKPQLSVCNPHSGKEYFRVPDSATFSICPGGEQPAMKSSSLPCWDLMPDISQSVL DASLLQKQIMLGFSPAPGADSSQCWSLPAIVRPEFPRQSVAVPLGNFRENGFCTRWEGKNENEVGRCKETGKVHVTVDLKYYRPTEVDFL -------------------------------------------------------------- >98276_98276_6_VPS13B-GMDS_VPS13B_chr8_100844880_ENST00000357162_GMDS_chr6_1726746_ENST00000530927_length(transcript)=10317nt_BP=9725nt GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGATGACCATGAAAGCTGTGGTTCTAATTCTACCAACCGTAGTACTGCT GAGAGCACAAAATCATCAATCAAACCGCGGAGAATGCAGCAGGCTGCTCCTACAGATCCTGACTTACCACCAGGTTATGTGCAGAGTCTG ATTAGACGAGTTGTAAATAATGTAAACATTGTGATAAATAATCTCATACTAAAATATGTTGAAGATGATATCGTCCTTTCCGTCAATATC ACTTCTGCAGAATGTTATACAGTAGGTGAATTATGGGATCGTGCATTCATGGATATTTCTGCAACTGATTTGGTGCTGAGAAAGGTTATC AATTTTTCTGACTGTACAGTTTGTCTTGATAAACGGAATGCCAGTGGTAAAATAGAATTTTACCAGGATCCTTTATTATACAAATGTTCC TTCAGAACTCGTCTTCATTTTACATATGAAAACCTAAATTCCAAGATGCCATCTGTTATTAAAATTCATACTTTAGTGGAAAGTTTGAAA CTTTCTATCACAGATCAACAACTGCCTATGTTTATTCGTATAATGCAACTTGGAATTGCTCTTTACTATGGAGAAATAGGCAATTTTAAA GAAGGCGAAATAGAGGACCTTACTTGTCATAATAAAGATATGCTAGGAAACATTACAGGTTCTGAAGATGAAACAAGAATAGATATGCAA TATCCTGCTCAGCATAAAGGTCAAGAGTTATATTCACAGCAAGATGAGGAGCAGCCACAGGGATGGGTGTCATGGGCCTGGTCCTTTGTG CCTGCAATTGTGAGTTATGACGATGGCGAGGAAGACTTTGTTGGGAACGATCCTGCATCAACCATGCATCAACAAAAAGCACAGACTTTG AAGGATCCTATTGTTTCTATAGGATTTTATTGCACAAAGGCAACGGTGACTTTCAAACTCACAGAAATGCAAGTTGAGAGTAGTTATTAC AGTCCACAGAAAGTAAAATCTAAAGAAGTATTGTGTTGGGAACAAGAAGGAACTACAGTTGAGGCCCTTATGATGGGAGAACCTTTCTTT GATTGCCAGATTGGGTTTGTTGGTTGCAGAGCCATGTGCCTTAAAGGAATTATGGGTGTTAAAGATTTTGAAGAGAATATGAATAGAAGT GAAACTGAAGCCTGTTTCTTCATTTGTGGTGACAATTTGAGTACGAAAGGTTTCACATACCTTACAAATTCATTGTTTGATTACCGAAGC CCAGAAAATAATGGTACTCGCGCAGAATTTATCTTGGATTCAACTCATCATAAGGAGACATACACTGAGATAGCTGGAATGCAACGGTTT GGGGCTTTTTATATGGATTACCTGTATACAATGGAGAACACTAGTGGCAAAGGTTCCACAAATCAACAAGACTTTTCTTCAGGGAAAAGT GAAGATTTGGGAACAGTTCAGGAGAAGTCCACCAAAAGCCTTGTTATAGGTCCTCTTGATTTTCGTTTGGATAGCAGTGCGGTGCATAGG ATTTTGAAAATGATTGTGTGTGCCTTGGAACATGAATATGAACCATATAGCAGGCTAAAATCAGATATTAAGGATGAAAATGAAACAATA CTGAATCCTGAAGAGGTGGCTCTTCTGGAGGAATATATTCCTACTCGACATACAAGTGTTACTCTCCTCAAATGTACCTGCACAATTTCC ATGGCTGAATTCAACTTGCTGGACCATTTACTACCTGTCATTATGGGAGAAAAGAACTCAAGTAACTTCATGAATACTACAAACTTCCAG TCTCTTCGGCCTTTGCCATCCATTCGAATATTGGTGGATAAAATTAATCTGGAACATTCAGTGCCAATGTATGCTGAACAGTTGGTGCAT GTGGTCAGCAGCCTTACTCAACCTTCTGATAACCTGCTTCATTATTGTTATGTACACTGCTATCTTAAGATATTTGGTTTCCAGGCAGGA CTGACGTCTTTGGATTGCAGTGGATCTTACTGCTTACCTGTACCAGTTATTCCCTCTTTCAGCACTGCTCTTTATGGGAAACTTCTGAAA CTCCCCACATGCTGGACCAAAAGATCTCAGATTGCTATAACTGAAGGTATATTTGAACTTCCAAATCTCACAATTCAAGCTACAAGAGCA CAGACACTTCTCTTGCAAGCAATATATCAAAGTTGGTCTCATCTTGGAAATGTCAGCTCTTCCGCAGTGATTGAAGCTTTGATAAATGAA ATCTTCCTAAGTATAGGTGTGAAATCTAAGAATCCCCTGCCAACTCTTGAGGGCTCAATCCAGAATGTTGAATTGAAGTACTGCAGCACA TCATTGGTCAAATGTGCCTCTGGGACCATGGGATCAATAAAAATTTGTGCCAAAGCCCCAGTTGATAGTGGAAAAGAGAAGTTGATTCCC TTGCTTCAGGGTCCTTCTGACACTAAAGACCTTCATAGCACCAAGTGGCTCAATGAGAGTAGAAAGCCAGAGTCTCTCTTAGCTCCAGAT TTGATGGCCTTCACAATCCAAGTTCCACAATATATTGACTACTGCCACAATTCCGGTGCTGTACTTCTTTGCAGTATACAAGGACTAGCA GTTAATATTGACCCAATCTTATATACGTGGCTCATCTATCAGCCTCAGAAACGAACAAGTAGACATATGCAACAGCAGCCTGTGGTAGCT GTTCCTCTTGTTATGCCAGTTTGTAGAAGGAAAGAGGATGAGGTGTCTATTGGAAGTGCCCCCTTGGCAAAGCAGCAATCATATCAGGCC TCTGAATATGCCAGCAGCCCTGTAAAAACAAAAACGGTAACAGAATCCCGCCCATTGTCAGTTCCTGTTAAAGCCATGTTGAATATATCT GAAAGCTGTAGAAGTCCTGAAGAAAGAATGAAGGAATTTATTGGAATTGTTTGGAATGCAGTGAAGCATCTCACACTACAGCTTGAAGTA CAATCTTGTTGTGTGTTTATTCCAAATGATAGCCTGCCTTCCCCAAGTACAATTGTATCTGGTGACATTCCTGGAACAGTAAGAAGTTGG TACCATGGACAAACCAGCATGCCGGGAACACTTGTCCTCTGTTTGCCTCAAATAAAGATTATTAGTGCTGGGCACAAGTATATGGAACCT CTGCAGGAGATTCCATTTGTTATCCCACGACCCATCCTTGAAGAAGGTGATGCTTTTCCTTGGACGATCAGCTTGCATAATTTCAGCATA TATACCCTTCTTGGAAAACAAGTGACACTTTGCCTAGTGGAACCTATGGGTTGCACCTCCACTCTAGCTGTCACGTCTCAAAAACTGCTT GCTACGGGACCTGATACACGACATTCATTTGTTGTCTGTCTCCATGTTGACCTAGAGTCACTAGAGATAAAATGCTCTAATCCCCAGGTC CAGCTCTTCTATGAACTAACTGATATCATGAATAAGGTCTGGAACAAGATTCAGAAGAGAGGCAATCTCAACCTATCTCCAACCTCTCCA GAGACCATGGCAGGGCCTGTTCCTACTTCTCCAGTTAGAAGCAGTATAGGCACAGCTCCTCCAGATACCAGCACATGCAGCCCATCTGCT GACATTGGGACTACTACTGAGGGAGATTCTATACAAGCAGGTGAGGAATCACCATTCTCAGATTCTGTGACCTTGGAACAAACTACAAGT AATATTGGAGGAACCAGTGGACGTGTTAGTTTATGGATGCAGTGGGTGCTTCCCAAAATTACTATAAAGCTCTTTGCTCCAGATCCTGAA AATAAAGGCACAGAGGTTTGTATGGTCAGTGAACTAGAAGATCTCAGTGCTTCCATAGATGTCCAGGATGTATATACCAAAGTGAAATGT AAAATAGAGAGTTTCAATATTGATCACTATAGAAGCAGGCCAGGGGAAGGTTGGCAGTCAGGACATTTTGAAGGAGTATTTCTACAATGC AAAGAAAAATCTGTGACAACTACAAAACTTCTAGATGGCACTCATCAGCAGCATGGATTCCTCTCTCTGACATACACAAAAGCTGTAACA AAAAATGTCCGCCACAAGTTAACATCAAGAAATGAGCGAAGAAGTTTTCATAAGTTATCTGAAGGCCTAATGGATGGTTCTCCTCATTTT CTTCATGAAATTCTTCTTTCAGCACAAGCTTTTGATATTGTTCTTTATTTTCCTTTACTTAATGCCATTGCAAGTATATTTCAAGCAAAA CTACCAAAGACCCAAAAAGAGAAAAGAAAATCTCCTGGTCAGCCCATGAGGACCCATACACTGACATCCCGCAATTTACCTTTGATTTAT GTCAACACAAGTGTAATCAGAATTTTTATTCCAAAAACAGAAGAAATGCAGCCAACTGTTGAAGCTAATCAGGCAGCAAAAGAAGACACT GTGGTTTTGAAGATTGGCTCTGTTGCCATGGCTCCCCAGGCTGACAATCCCCTTGGCAGATCTGTCCTTAGGAAAGATATTTACCAGAGA GCCTTGAACTTAGGAATTCTTCGAGATCCTGGATCAGAAATCGAAGACAGACAATACCAAATAGATCTGCAGTCCATCAATATTGGTACT GCACAGTGGCATCAACTAAAACCAGAGAAGGAAAGTGTCTCAGGAGGGGTGGTAACAGAGACTGAAAGGAATTCTCAAAATCCAGCCCTT GAGTGGAATATGGCCAGCAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACT GGAGCACCTGCTGTCATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGAGATTTTAGTGTGTGGCCATTCCTTAGAAGTG AATATAACCACAAACCTGGACTTCTTCCTAAGTGTGGCTCAAGTTCAACTCTTACATCAGTTAATAGTAGCAAATATGACTGGACTGGAA CCATCAAACAAGGCTGCAGAGATCTCTAAACAAGAACAGAAAAAAGTGGATATATTTGATGGAGGCATGGCTGAAACCTCATCTCGCTAC AGTGGTGCTCAGGATAGTGGAATTGGCAGTGACAGTGTTAAAATCAGAATAGTGCAAATAGAGCAGCACAGTGGTGCCAGTCAGCATCGC ATTGCCCGTCCCTCACGCCAGTCATCAATTGTAAAAAATCTAAATTTTATTCCCTTTGACATATTTATTACTGCAAGTAGAATCTCACTA ATGACCTATTCCTGTATGGCCTTATCCAAATCGAAATCACAAGAACAGAAGAATAATGAAAAAACAGACAAGAGTTCATTAAATCTCCCA GAAGTTGATTCAGATGTTGCTAAGCCCAACCAGGCATGTATTTCCACGGTGACAGCAGAAGATCTCTTAAGGAGCAGCATTTCTTTTCCT TCAGGGAAAAAAATAGGGGTCCTCTCTCTTGAAAGTCTTCATGCATCCACAAGGTCATCTGCTAGACAAGCACTTGGTATAACTATTGTT CGGCAGCCTGGTCGAAGAGGAACTGGTGACTTACAGCTAGAGCCTTTTCTGTACTTTATTGTGTCCCAGCCTTCCTTGCTTCTGAGTTGT CACCACAGAAAGCAGCGAGTGGAAGTATCCATTTTTGATGCTGTGCTTAAAGGGGTGGCCTCTGATTACAAATGTATAGATCCTGGGAAG ACTCTGCCTGAAGCCCTTGATTATTGCACTGTTTGGCTACAGACAGTGCCTGGAGAAATAGACAGCAAAAGTGGTATTCCACCTTCCTTT ATAACACTACAGATTAAAGACTTTCTGAATGGACCAGCGGATGTCAATTTGGATATATCAAAGCCTTTGAAAGCAAACCTGAGTTTCACC AAACTGGATCAGATAAACCTTTTTTTAAAGAAGATAAAAAATGCACACAGTTTGGCACATAGTGAAGAGACTTCAGCCATGTCCAACACC ATGGTGAATAAGGATGATCTTCCAGTCTCCAAATATTACCGTGGAAAGTTGTCTAAACCCAAAATTCATGGTGATGGAGTGCAAAAGATT TCAGCTCAAGAAAACATGTGGAGAGCTGTTTCCTGCTTTCAAAAAATTTCTGTTCAAACTACTCAGATTGTGATCTCCATGGAAACTGTA CCCCATACCAGCAAACCATGCCTGTTAGCATCTCTCTCAAACCTCAATGGAAGCCTTAGTGTCAAGGCAACACAAAAAGTACCTGGCATA ATTCTTGGGTCATCATTTCTACTCAGTATAAACGATTTTCTCCTTAAAACAAGTCTCAAAGAAAGAAGCCGCATTCTGATAGGACCATGT TGTGCTACTGCCAATCTGGAAGCTAAGTGGTGTAAACACAGCGGGAATCCAGGCCCAGAACAATCCATACCAAAAATATCCATTGACTTA AGAGGAGGTCTACTACAGGTCTTCTGGGGTCAAGAACATTTGAATTGTTTAGTTCTTCTACATGAATTACTCAATGGATACCTTAATGAG GAGGGAAATTTTGAAGTACAAGTTTCTGAACCAGTGCCTCAAATGTCATCTCCTGTGGAAAAGAATCAGACATTTAAAAGTGAACAAAGT TCAGATGACCTACGGACAGGTCTATTTCAGTATGTACAGGATGCTGAATCTTTGAAATTGCCTGGGGTCTATGAAGTCTTATTTTATAAT GAAACTGAAGATTGCCCAGGGATGATGTTATGGAGATATCCAGAACCTAGAGTACTCACCCTTGTACGAATAACTCCTGTACCTTTTAAC ACCACAGAGGATCCAGATATTAGCACAGCAGACCTTGGTGATGTGCTACAGGTTCCTTGTAGCTTGGAATACTGGGATGAACTCCAGAAG GTTTTTGTTGCATTTAGAGAATTTAATCTGTCTGAAAGCAAAGTTTGTGAACTGCAGTTGCCGGATATCAATCTCGTGAATGACCAGAAG AAATTAGTATCTTCAGATCTTTGGAGAATTGTCTTGAACAGCAGTCAAAATGGAGCTGATGACCAAAGCTCTGCAAGTGAGTCTGGTTCT CAAAGCACTTGTGATCCACTTGTGACTCCAACAGCCCTGGCTGCCTGTACCAGAGTTGACTCCTGCTTTACCCCATGGTTTGTCCCATCC CTTTGCGTTTCTTTCCAGTTTGCTCACCTGGAATTCCATCTTTGTCATCACCTTGACCAACTAGGCACAGCTGCACCACAGTACCTACAG CCATTTGTTTCCGACAGAAATATGCCATCTGAACTAGAATACATGATTGTTTCCTTCAGAGAACCACACATGTATCTTCGACAGTGGAAT AATGGTTCTGTCTGTCAGGAGATCCAGTTCTTAGCTCAAGCAGACTGTAAACTTCTAGAGTGCAGAAATGTCACTATGCAAAGTGTGGTG AAACCCTTCAGCATCTTCGGGCAGATGGCAGTTTCCAGCGATGTAGTGGAAAAGCTGCTTGACTGCACCGTGATAGTTGATTCTGTATTT GTAAACCTTGGACAGCATGTAGTCCATTCACTAAACACTGCAATACAAGCTTGGCAACAGAACAAATGCCCTGAGGTAGAGGAGTTGGTC TTCAGCCATTTTGTGATCTGTAATGACACACAGGAGACACTGCGGTTTGGCCAGGTGGATACTGATGAAAATATTCTGCTGGCGAGTCTC CACAGTCACCAGTACAGCTGGCGCTCTCACAAATCCCCACAGCTGTTACACATCTGTATTGAAGGTTGGGGCAACTGGCGTTGGTCAGAG CCTTTCAGTGTGGACCATGCCGGGACTTTTATTAGAACAATTCAGTACAGGGGTCGAACTGCTTCTCTCATCATCAAGGTTCAGCAACTC AATGGAGTACAAAAACAGATTATCATCTGTGGAAGACAGATCATCTGTAGTTACTTGTCTCAAAGCATAGAACTAAAAGTCGTTCAGCAT TACATTGGTCAAGATGGACAAGCTGTAGTTCGGGAACATTTTGACTGCCTCACAGCCAAACAGAAATTGCCTTCGTACATACTAGAAAAC AATGAACTGACGGAGCTGTGTGTGAAGGCCAAAGGAGATGAAGACTGGTCAAGAGATGTGTGCCTGGAATCCAAAGCCCCTGAGTACAGC ATTGTCATTCAGGTGCCATCTTCAAACAGTTCCATTATTTATGTCTGGTGCACAGTTTTGACTTTAGAACCCAACTCTCAAGTGCAACAA CGAATGATTGTGTTCAGCCCTCTTTTTATCATGAGGAGTCATCTTCCAGACCCCATTATCATACATTTGGAGAAAAGGAGTCTGGGATTG AGTGAAACACAAATTATTCCAGGAAAAGGGCAGGAAAAACCACTGCAAAACATAGAACCTGACCTTGTACATCACCTGACATTCCAAGCA AGAGAAGAATATGATCCTTCAGATTGTGCAGTTCCCATCTCAACATCCCTCATTAAGCAAATAGCCACTAAGGTACACCCTGGAGGCACA GTTAATCAGATCCTTGACGAATTCTATGGGCCAGAAAAGTCGCTTCAACCCATATGGCCCTATAATAAGAAGGATTCTGACAGGAATGAA CAGCTAAGTCAGTGGGATAGCCCAATGCGAGTGAAGCTGTCAATCTGGAAGCCATATGTTAGAACTTTGTTGATAGAACTTCTGCCCTGG GCCCTGCTTATCAATGAATCCAAATGGGACCTCTGGCTATTTGAAGGAGAGAAAATTGTTCTACAGGTTCCTGCTGGCAAAATTATTATT CCTCCTAATTTTCAGGAAGCTTTTCAAATTGGAATATACTGGGCAAATACAAACACTGTGCACAAGTCAGTAGCAATTAAACTGGTCCAT AACCTGACATCTCCAAAGTGGAAAGATGGAGGTAATGGTGAAGTTGTGACACTGGATGAAGAAGCGTTTGTTGATACTGAAATAAGACTT GGTGCTTTTCCAGGACATCAGAAGTTATGTCAGTTCTGCATTTCCTCCATGGTACAGCAAGGTATACAAATTATTCAGATTGAAGACAAG ACTACAATAATCAATAATACACCATATCAAATATTTTATAAACCACAGCTATCTGTCTGCAATCCCCATTCTGGAAAGGAGTATTTTCGT GTTCCAGACAGTGCTACTTTTAGCATTTGCCCAGGTGGAGAGCAGCCTGCTATGAAATCCAGCTCCCTTCCTTGCTGGGACTTGATGCCT GACATCAGTCAGTCAGTACTGGATGCATCCCTGCTTCAGAAACAGATCATGCTGGGCTTTTCTCCTGCCCCAGGTGCTGACAGCTCACAG TGCTGGAGCCTGCCAGCTATAGTTAGACCAGAGTTTCCCAGACAGAGTGTGGCAGTACCCCTCGGGAATTTCCGGGAAAATGGATTCTGT ACCAGGTGGGAAGGAAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATCTCAAGTACTACCGG CCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTTTCGATGAGCTGGTG AGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCCCGCCCTCCGGCTACA ATCCCCGCAGAGTCTCCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGCCCCTGCTGCCGCTGC GCTGTCCCGGCCGCAAGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGGTCGCTTTGCGTTTGT CGAAGCCTCCTCTGAATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTTGAAATTATGTTGTTACACAACAAATTGTGG >98276_98276_6_VPS13B-GMDS_VPS13B_chr8_100844880_ENST00000357162_GMDS_chr6_1726746_ENST00000530927_length(amino acids)=3280AA_BP=3204 MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL KLKDGIQDDHESCGSNSTNRSTAESTKSSIKPRRMQQAAPTDPDLPPGYVQSLIRRVVNNVNIVINNLILKYVEDDIVLSVNITSAECYT VGELWDRAFMDISATDLVLRKVINFSDCTVCLDKRNASGKIEFYQDPLLYKCSFRTRLHFTYENLNSKMPSVIKIHTLVESLKLSITDQQ LPMFIRIMQLGIALYYGEIGNFKEGEIEDLTCHNKDMLGNITGSEDETRIDMQYPAQHKGQELYSQQDEEQPQGWVSWAWSFVPAIVSYD DGEEDFVGNDPASTMHQQKAQTLKDPIVSIGFYCTKATVTFKLTEMQVESSYYSPQKVKSKEVLCWEQEGTTVEALMMGEPFFDCQIGFV GCRAMCLKGIMGVKDFEENMNRSETEACFFICGDNLSTKGFTYLTNSLFDYRSPENNGTRAEFILDSTHHKETYTEIAGMQRFGAFYMDY LYTMENTSGKGSTNQQDFSSGKSEDLGTVQEKSTKSLVIGPLDFRLDSSAVHRILKMIVCALEHEYEPYSRLKSDIKDENETILNPEEVA LLEEYIPTRHTSVTLLKCTCTISMAEFNLLDHLLPVIMGEKNSSNFMNTTNFQSLRPLPSIRILVDKINLEHSVPMYAEQLVHVVSSLTQ PSDNLLHYCYVHCYLKIFGFQAGLTSLDCSGSYCLPVPVIPSFSTALYGKLLKLPTCWTKRSQIAITEGIFELPNLTIQATRAQTLLLQA IYQSWSHLGNVSSSAVIEALINEIFLSIGVKSKNPLPTLEGSIQNVELKYCSTSLVKCASGTMGSIKICAKAPVDSGKEKLIPLLQGPSD TKDLHSTKWLNESRKPESLLAPDLMAFTIQVPQYIDYCHNSGAVLLCSIQGLAVNIDPILYTWLIYQPQKRTSRHMQQQPVVAVPLVMPV CRRKEDEVSIGSAPLAKQQSYQASEYASSPVKTKTVTESRPLSVPVKAMLNISESCRSPEERMKEFIGIVWNAVKHLTLQLEVQSCCVFI PNDSLPSPSTIVSGDIPGTVRSWYHGQTSMPGTLVLCLPQIKIISAGHKYMEPLQEIPFVIPRPILEEGDAFPWTISLHNFSIYTLLGKQ VTLCLVEPMGCTSTLAVTSQKLLATGPDTRHSFVVCLHVDLESLEIKCSNPQVQLFYELTDIMNKVWNKIQKRGNLNLSPTSPETMAGPV PTSPVRSSIGTAPPDTSTCSPSADIGTTTEGDSIQAGEESPFSDSVTLEQTTSNIGGTSGRVSLWMQWVLPKITIKLFAPDPENKGTEVC MVSELEDLSASIDVQDVYTKVKCKIESFNIDHYRSRPGEGWQSGHFEGVFLQCKEKSVTTTKLLDGTHQQHGFLSLTYTKAVTKNVRHKL TSRNERRSFHKLSEGLMDGSPHFLHEILLSAQAFDIVLYFPLLNAIASIFQAKLPKTQKEKRKSPGQPMRTHTLTSRNLPLIYVNTSVIR IFIPKTEEMQPTVEANQAAKEDTVVLKIGSVAMAPQADNPLGRSVLRKDIYQRALNLGILRDPGSEIEDRQYQIDLQSINIGTAQWHQLK PEKESVSGGVVTETERNSQNPALEWNMASSIRRHQERRAILTPVLTDFSVRITGAPAVIFTKVVSPENLHTEEILVCGHSLEVNITTNLD FFLSVAQVQLLHQLIVANMTGLEPSNKAAEISKQEQKKVDIFDGGMAETSSRYSGAQDSGIGSDSVKIRIVQIEQHSGASQHRIARPSRQ SSIVKNLNFIPFDIFITASRISLMTYSCMALSKSKSQEQKNNEKTDKSSLNLPEVDSDVAKPNQACISTVTAEDLLRSSISFPSGKKIGV LSLESLHASTRSSARQALGITIVRQPGRRGTGDLQLEPFLYFIVSQPSLLLSCHHRKQRVEVSIFDAVLKGVASDYKCIDPGKTLPEALD YCTVWLQTVPGEIDSKSGIPPSFITLQIKDFLNGPADVNLDISKPLKANLSFTKLDQINLFLKKIKNAHSLAHSEETSAMSNTMVNKDDL PVSKYYRGKLSKPKIHGDGVQKISAQENMWRAVSCFQKISVQTTQIVISMETVPHTSKPCLLASLSNLNGSLSVKATQKVPGIILGSSFL LSINDFLLKTSLKERSRILIGPCCATANLEAKWCKHSGNPGPEQSIPKISIDLRGGLLQVFWGQEHLNCLVLLHELLNGYLNEEGNFEVQ VSEPVPQMSSPVEKNQTFKSEQSSDDLRTGLFQYVQDAESLKLPGVYEVLFYNETEDCPGMMLWRYPEPRVLTLVRITPVPFNTTEDPDI STADLGDVLQVPCSLEYWDELQKVFVAFREFNLSESKVCELQLPDINLVNDQKKLVSSDLWRIVLNSSQNGADDQSSASESGSQSTCDPL VTPTALAACTRVDSCFTPWFVPSLCVSFQFAHLEFHLCHHLDQLGTAAPQYLQPFVSDRNMPSELEYMIVSFREPHMYLRQWNNGSVCQE IQFLAQADCKLLECRNVTMQSVVKPFSIFGQMAVSSDVVEKLLDCTVIVDSVFVNLGQHVVHSLNTAIQAWQQNKCPEVEELVFSHFVIC NDTQETLRFGQVDTDENILLASLHSHQYSWRSHKSPQLLHICIEGWGNWRWSEPFSVDHAGTFIRTIQYRGRTASLIIKVQQLNGVQKQI IICGRQIICSYLSQSIELKVVQHYIGQDGQAVVREHFDCLTAKQKLPSYILENNELTELCVKAKGDEDWSRDVCLESKAPEYSIVIQVPS SNSSIIYVWCTVLTLEPNSQVQQRMIVFSPLFIMRSHLPDPIIIHLEKRSLGLSETQIIPGKGQEKPLQNIEPDLVHHLTFQAREEYDPS DCAVPISTSLIKQIATKVHPGGTVNQILDEFYGPEKSLQPIWPYNKKDSDRNEQLSQWDSPMRVKLSIWKPYVRTLLIELLPWALLINES KWDLWLFEGEKIVLQVPAGKIIIPPNFQEAFQIGIYWANTNTVHKSVAIKLVHNLTSPKWKDGGNGEVVTLDEEAFVDTEIRLGAFPGHQ KLCQFCISSMVQQGIQIIQIEDKTTIINNTPYQIFYKPQLSVCNPHSGKEYFRVPDSATFSICPGGEQPAMKSSSLPCWDLMPDISQSVL DASLLQKQIMLGFSPAPGADSSQCWSLPAIVRPEFPRQSVAVPLGNFRENGFCTRWEGKNENEVGRCKETGKVHVTVDLKYYRPTEVDFL -------------------------------------------------------------- >98276_98276_7_VPS13B-GMDS_VPS13B_chr8_100844880_ENST00000358544_GMDS_chr6_1726746_ENST00000380815_length(transcript)=10392nt_BP=9800nt GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGATGACCATGAAAGCTGTGGTTCTAATTCTACCAACCGTAGTACTGCT GAGAGCACAAAATCATCAATCAAACCGCGGAGAATGCAGCAGGCTGCTCCTACAGATCCTGACTTACCACCAGGTTATGTGCAGAGTCTG ATTAGACGAGTTGTAAATAATGTAAACATTGTGATAAATAATCTCATACTAAAATATGTTGAAGATGATATCGTCCTTTCCGTCAATATC ACTTCTGCAGAATGTTATACAGTAGGTGAATTATGGGATCGTGCATTCATGGATATTTCTGCAACTGATTTGGTGCTGAGAAAGGTTATC AATTTTTCTGACTGTACAGTTTGTCTTGATAAACGGAATGCCAGTGGTAAAATAGAATTTTACCAGGATCCTTTATTATACAAATGTTCC TTCAGAACTCGTCTTCATTTTACATATGAAAACCTAAATTCCAAGATGCCATCTGTTATTAAAATTCATACTTTAGTGGAAAGTTTGAAA CTTTCTATCACAGATCAACAACTGCCTATGTTTATTCGTATAATGCAACTTGGAATTGCTCTTTACTATGGAGAAATAGGCAATTTTAAA GAAGGCGAAATAGAGGACCTTACTTGTCATAATAAAGATATGCTAGGAAACATTACAGGTTCTGAAGATGAAACAAGAATAGATATGCAA TATCCTGCTCAGCATAAAGGTCAAGAGTTATATTCACAGCAAGATGAGGAGCAGCCACAGGGATGGGTGTCATGGGCCTGGTCCTTTGTG CCTGCAATTGTGAGTTATGACGATGGCGAGGAAGACTTTGTTGGGAACGATCCTGCATCAACCATGCATCAACAAAAAGCACAGACTTTG AAGGATCCTATTGTTTCTATAGGATTTTATTGCACAAAGGCAACGGTGACTTTCAAACTCACAGAAATGCAAGTTGAGAGTAGTTATTAC AGTCCACAGAAAGTAAAATCTAAAGAAGTATTGTGTTGGGAACAAGAAGGAACTACAGTTGAGGCCCTTATGATGGGAGAACCTTTCTTT GATTGCCAGATTGGGTTTGTTGGTTGCAGAGCCATGTGCCTTAAAGGAATTATGGGTGTTAAAGATTTTGAAGAGAATATGAATAGAAGT GAAACTGAAGCCTGTTTCTTCATTTGTGGTGACAATTTGAGTACGAAAGGTTTCACATACCTTACAAATTCATTGTTTGATTACCGAAGC CCAGAAAATAATGGTACTCGCGCAGAATTTATCTTGGATTCAACTCATCATAAGGAGACATACACTGAGATAGCTGGAATGCAACGGTTT GGGGCTTTTTATATGGATTACCTGTATACAATGGAGAACACTAGTGGCAAAGGTTCCACAAATCAACAAGACTTTTCTTCAGGGAAAAGT GAAGATTTGGGAACAGTTCAGGAGAAGTCCACCAAAAGCCTTGTTATAGGTCCTCTTGATTTTCGTTTGGATAGCAGTGCGGTGCATAGG ATTTTGAAAATGATTGTGTGTGCCTTGGAACATGAATATGAACCATATAGCAGGCTAAAATCAGATATTAAGGATGAAAATGAAACAATA CTGAATCCTGAAGAGGTGGCTCTTCTGGAGGAATATATTCCTACTCGACATACAAGTGTTACTCTCCTCAAATGTACCTGCACAATTTCC ATGGCTGAATTCAACTTGCTGGACCATTTACTACCTGTCATTATGGGAGAAAAGAACTCAAGTAACTTCATGAATACTACAAACTTCCAG TCTCTTCGGCCTTTGCCATCCATTCGAATATTGGTGGATAAAATTAATCTGGAACATTCAGTGCCAATGTATGCTGAACAGTTGGTGCAT GTGGTCAGCAGCCTTACTCAACCTTCTGATAACCTGCTTCATTATTGTTATGTACACTGCTATCTTAAGATATTTGGTTTCCAGGCAGGA CTGACGTCTTTGGATTGCAGTGGATCTTACTGCTTACCTGTACCAGTTATTCCCTCTTTCAGCACTGCTCTTTATGGGAAACTTCTGAAA CTCCCCACATGCTGGACCAAAAGATCTCAGATTGCTATAACTGAAGGTATATTTGAACTTCCAAATCTCACAATTCAAGCTACAAGAGCA CAGACACTTCTCTTGCAAGCAATATATCAAAGTTGGTCTCATCTTGGAAATGTCAGCTCTTCCGCAGTGATTGAAGCTTTGATAAATGAA ATCTTCCTAAGTATAGGTGTGAAATCTAAGAATCCCCTGCCAACTCTTGAGGGCTCAATCCAGAATGTTGAATTGAAGTACTGCAGCACA TCATTGGTCAAATGTGCCTCTGGGACCATGGGATCAATAAAAATTTGTGCCAAAGCCCCAGTTGATAGTGGAAAAGAGAAGTTGATTCCC TTGCTTCAGGGTCCTTCTGACACTAAAGACCTTCATAGCACCAAGTGGCTCAATGAGAGTAGAAAGCCAGAGTCTCTCTTAGCTCCAGAT TTGATGGCCTTCACAATCCAAGTTCCACAATATATTGACTACTGCCACAATTCCGGTGCTGTACTTCTTTGCAGTATACAAGGACTAGCA GTTAATATTGACCCAATCTTATATACGTGGCTCATCTATCAGCCTCAGAAACGAACAAGTAGACATATGCAACAGCAGCCTGTGGTAGCT GTTCCTCTTGTTATGCCAGTTTGTAGAAGGAAAGAGGATGAGGTGTCTATTGGAAGTGCCCCCTTGGCAAAGCAGCAATCATATCAGGCC TCTGAATATGCCAGCAGCCCTGTAAAAACAAAAACGGTAACAGAATCCCGCCCATTGTCAGTTCCTGTTAAAGCCATGTTGAATATATCT GAAAGCTGTAGAAGTCCTGAAGAAAGAATGAAGGAATTTATTGGAATTGTTTGGAATGCAGTGAAGCATCTCACACTACAGCTTGAAGTA CAATCTTGTTGTGTGTTTATTCCAAATGATAGCCTGCCTTCCCCAAGTACAATTGTATCTGGTGACATTCCTGGAACAGTAAGAAGTTGG TACCATGGACAAACCAGCATGCCGGGAACACTTGTCCTCTGTTTGCCTCAAATAAAGATTATTAGTGCTGGGCACAAGTATATGGAACCT CTGCAGGAGATTCCATTTGTTATCCCACGACCCATCCTTGAAGAAGGTGATGCTTTTCCTTGGACGATCAGCTTGCATAATTTCAGCATA TATACCCTTCTTGGAAAACAAGTGACACTTTGCCTAGTGGAACCTATGGGTTGCACCTCCACTCTAGCTGTCACGTCTCAAAAACTGCTT GCTACGGGACCTGATACACGACATTCATTTGTTGTCTGTCTCCATGTTGACCTAGAGTCACTAGAGATAAAATGCTCTAATCCCCAGGTC CAGCTCTTCTATGAACTAACTGATATCATGAATAAGGTCTGGAACAAGATTCAGAAGAGAGGCAATCTCAACCTATCTCCAACCTCTCCA GAGACCATGGCAGGGCCTGTTCCTACTTCTCCAGTTAGAAGCAGTATAGGCACAGCTCCTCCAGATACCAGCACATGCAGCCCATCTGCT GACATTGGGACTACTACTGAGGGAGATTCTATACAAGCAGGTGAGGAATCACCATTCTCAGATTCTGTGACCTTGGAACAAACTACAAGT AATATTGGAGGAACCAGTGGACGTGTTAGTTTATGGATGCAGTGGGTGCTTCCCAAAATTACTATAAAGCTCTTTGCTCCAGATCCTGAA AATAAAGGCACAGAGGTTTGTATGGTCAGTGAACTAGAAGATCTCAGTGCTTCCATAGATGTCCAGGATGTATATACCAAAGTGAAATGT AAAATAGAGAGTTTCAATATTGATCACTATAGAAGCAGCCTTGGGGAAGAGTGTTGGTCTTTGGGGCAATGTGGAGGTGTCTTCCTTTCC TGTACTGACAAGCTGAACAGACGCACCTTGTTGGTTCGACCCATCAGCAAGCAGGACCCTTTCAGTAATTGCTCTGGCTTCTTTCCTTCT ACAACTACAAAACTTCTAGATGGCACTCATCAGCAGCATGGATTCCTCTCTCTGACATACACAAAAGCTGTAACAAAAAATGTCCGCCAC AAGTTAACATCAAGAAATGAGCGAAGAAGTTTTCATAAGTTATCTGAAGGCCTAATGGATGGTTCTCCTCATTTTCTTCATGAAATTCTT CTTTCAGCACAAGCTTTTGATATTGTTCTTTATTTTCCTTTACTTAATGCCATTGCAAGTATATTTCAAGCAAAACTACCAAAGACCCAA AAAGAGAAAAGAAAATCTCCTGGTCAGCCCATGAGGACCCATACACTGACATCCCGCAATTTACCTTTGATTTATGTCAACACAAGTGTA ATCAGAATTTTTATTCCAAAAACAGAAGAAATGCAGCCAACTGTTGAAGCTAATCAGGCAGCAAAAGAAGACACTGTGGTTTTGAAGATT GGCTCTGTTGCCATGGCTCCCCAGGCTGACAATCCCCTTGGCAGATCTGTCCTTAGGAAAGATATTTACCAGAGAGCCTTGAACTTAGGA ATTCTTCGAGATCCTGGATCAGAAATCGAAGACAGACAATACCAAATAGATCTGCAGTCCATCAATATTGGTACTGCACAGTGGCATCAA CTAAAACCAGAGAAGGAAAGTGTCTCAGGAGGGGTGGTAACAGAGACTGAAAGGAATTCTCAAAATCCAGCCCTTGAGTGGAATATGGCC AGCAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACTGGAGCACCTGCTGTC ATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGAGATTTTAGTGTGTGGCCATTCCTTAGAAGTGAATATAACCACAAAC CTGGACTTCTTCCTAAGTGTGGCTCAAGTTCAACTCTTACATCAGTTAATAGTAGCAAATATGACTGGACTGGAACCATCAAACAAGGCT GCAGAGATCTCTAAACAAGAACAGAAAAAAGTGGATATATTTGATGGAGGCATGGCTGAAACCTCATCTCGCTACAGTGGTGCTCAGGAT AGTGGAATTGGCAGTGACAGTGTTAAAATCAGAATAGTGCAAATAGAGCAGCACAGTGGTGCCAGTCAGCATCGCATTGCCCGTCCCTCA CGCCAGTCATCAATTGTAAAAAATCTAAATTTTATTCCCTTTGACATATTTATTACTGCAAGTAGAATCTCACTAATGACCTATTCCTGT ATGGCCTTATCCAAATCGAAATCACAAGAACAGAAGAATAATGAAAAAACAGACAAGAGTTCATTAAATCTCCCAGAAGTTGATTCAGAT GTTGCTAAGCCCAACCAGGCATGTATTTCCACGGTGACAGCAGAAGATCTCTTAAGGAGCAGCATTTCTTTTCCTTCAGGGAAAAAAATA GGGGTCCTCTCTCTTGAAAGTCTTCATGCATCCACAAGGTCATCTGCTAGACAAGCACTTGGTATAACTATTGTTCGGCAGCCTGGTCGA AGAGGAACTGGTGACTTACAGCTAGAGCCTTTTCTGTACTTTATTGTGTCCCAGCCTTCCTTGCTTCTGAGTTGTCACCACAGAAAGCAG CGAGTGGAAGTATCCATTTTTGATGCTGTGCTTAAAGGGGTGGCCTCTGATTACAAATGTATAGATCCTGGGAAGACTCTGCCTGAAGCC CTTGATTATTGCACTGTTTGGCTACAGACAGTGCCTGGAGAAATAGACAGCAAAAGTGGTATTCCACCTTCCTTTATAACACTACAGATT AAAGACTTTCTGAATGGACCAGCGGATGTCAATTTGGATATATCAAAGCCTTTGAAAGCAAACCTGAGTTTCACCAAACTGGATCAGATA AACCTTTTTTTAAAGAAGATAAAAAATGCACACAGTTTGGCACATAGTGAAGAGACTTCAGCCATGTCCAACACCATGGTGAATAAGGAT GATCTTCCAGTCTCCAAATATTACCGTGGAAAGTTGTCTAAACCCAAAATTCATGGTGATGGAGTGCAAAAGATTTCAGCTCAAGAAAAC ATGTGGAGAGCTGTTTCCTGCTTTCAAAAAATTTCTGTTCAAACTACTCAGATTGTGATCTCCATGGAAACTGTACCCCATACCAGCAAA CCATGCCTGTTAGCATCTCTCTCAAACCTCAATGGAAGCCTTAGTGTCAAGGCAACACAAAAAGTACCTGGCATAATTCTTGGGTCATCA TTTCTACTCAGTATAAACGATTTTCTCCTTAAAACAAGTCTCAAAGAAAGAAGCCGCATTCTGATAGGACCATGTTGTGCTACTGCCAAT CTGGAAGCTAAGTGGTGTAAACACAGCGGGAATCCAGGCCCAGAACAATCCATACCAAAAATATCCATTGACTTAAGAGGAGGTCTACTA CAGGTCTTCTGGGGTCAAGAACATTTGAATTGTTTAGTTCTTCTACATGAATTACTCAATGGATACCTTAATGAGGAGGGAAATTTTGAA GTACAAGTTTCTGAACCAGTGCCTCAAATGTCATCTCCTGTGGAAAAGAATCAGACATTTAAAAGTGAACAAAGTTCAGATGACCTACGG ACAGGTCTATTTCAGTATGTACAGGATGCTGAATCTTTGAAATTGCCTGGGGTCTATGAAGTCTTATTTTATAATGAAACTGAAGATTGC CCAGGGATGATGTTATGGAGATATCCAGAACCTAGAGTACTCACCCTTGTACGAATAACTCCTGTACCTTTTAACACCACAGAGGATCCA GATATTAGCACAGCAGACCTTGGTGATGTGCTACAGGTTCCTTGTAGCTTGGAATACTGGGATGAACTCCAGAAGGTTTTTGTTGCATTT AGAGAATTTAATCTGTCTGAAAGCAAAGTTTGTGAACTGCAGTTGCCGGATATCAATCTCGTGAATGACCAGAAGAAATTAGTATCTTCA GATCTTTGGAGAATTGTCTTGAACAGCAGTCAAAATGGAGCTGATGACCAAAGCTCTGCAAGTGAGTCTGGTTCTCAAAGCACTTGTGAT CCACTTGTGACTCCAACAGCCCTGGCTGCCTGTACCAGAGTTGACTCCTGCTTTACCCCATGGTTTGTCCCATCCCTTTGCGTTTCTTTC CAGTTTGCTCACCTGGAATTCCATCTTTGTCATCACCTTGACCAACTAGGCACAGCTGCACCACAGTACCTACAGCCATTTGTTTCCGAC AGAAATATGCCATCTGAACTAGAATACATGATTGTTTCCTTCAGAGAACCACACATGTATCTTCGACAGTGGAATAATGGTTCTGTCTGT CAGGAGATCCAGTTCTTAGCTCAAGCAGACTGTAAACTTCTAGAGTGCAGAAATGTCACTATGCAAAGTGTGGTGAAACCCTTCAGCATC TTCGGGCAGATGGCAGTTTCCAGCGATGTAGTGGAAAAGCTGCTTGACTGCACCGTGATAGTTGATTCTGTATTTGTAAACCTTGGACAG CATGTAGTCCATTCACTAAACACTGCAATACAAGCTTGGCAACAGAACAAATGCCCTGAGGTAGAGGAGTTGGTCTTCAGCCATTTTGTG ATCTGTAATGACACACAGGAGACACTGCGGTTTGGCCAGGTGGATACTGATGAAAATATTCTGCTGGCGAGTCTCCACAGTCACCAGTAC AGCTGGCGCTCTCACAAATCCCCACAGCTGTTACACATCTGTATTGAAGGTTGGGGCAACTGGCGTTGGTCAGAGCCTTTCAGTGTGGAC CATGCCGGGACTTTTATTAGAACAATTCAGTACAGGGGTCGAACTGCTTCTCTCATCATCAAGGTTCAGCAACTCAATGGAGTACAAAAA CAGATTATCATCTGTGGAAGACAGATCATCTGTAGTTACTTGTCTCAAAGCATAGAACTAAAAGTCGTTCAGCATTACATTGGTCAAGAT GGACAAGCTGTAGTTCGGGAACATTTTGACTGCCTCACAGCCAAACAGAAATTGCCTTCGTACATACTAGAAAACAATGAACTGACGGAG CTGTGTGTGAAGGCCAAAGGAGATGAAGACTGGTCAAGAGATGTGTGCCTGGAATCCAAAGCCCCTGAGTACAGCATTGTCATTCAGGTG CCATCTTCAAACAGTTCCATTATTTATGTCTGGTGCACAGTTTTGACTTTAGAACCCAACTCTCAAGTGCAACAACGAATGATTGTGTTC AGCCCTCTTTTTATCATGAGGAGTCATCTTCCAGACCCCATTATCATACATTTGGAGAAAAGGAGTCTGGGATTGAGTGAAACACAAATT ATTCCAGGAAAAGGGCAGGAAAAACCACTGCAAAACATAGAACCTGACCTTGTACATCACCTGACATTCCAAGCAAGAGAAGAATATGAT CCTTCAGATTGTGCAGTTCCCATCTCAACATCCCTCATTAAGCAAATAGCCACTAAGGTACACCCTGGAGGCACAGTTAATCAGATCCTT GACGAATTCTATGGGCCAGAAAAGTCGCTTCAACCCATATGGCCCTATAATAAGAAGGATTCTGACAGGAATGAACAGCTAAGTCAGTGG GATAGCCCAATGCGAGTGAAGCTGTCAATCTGGAAGCCATATGTTAGAACTTTGTTGATAGAACTTCTGCCCTGGGCCCTGCTTATCAAT GAATCCAAATGGGACCTCTGGCTATTTGAAGGAGAGAAAATTGTTCTACAGGTTCCTGCTGGCAAAATTATTATTCCTCCTAATTTTCAG GAAGCTTTTCAAATTGGAATATACTGGGCAAATACAAACACTGTGCACAAGTCAGTAGCAATTAAACTGGTCCATAACCTGACATCTCCA AAGTGGAAAGATGGAGGTAATGGTGAAGTTGTGACACTGGATGAAGAAGCGTTTGTTGATACTGAAATAAGACTTGGTGCTTTTCCAGGA CATCAGAAGTTATGTCAGTTCTGCATTTCCTCCATGGTACAGCAAGGTATACAAATTATTCAGATTGAAGACAAGACTACAATAATCAAT AATACACCATATCAAATATTTTATAAACCACAGCTATCTGTCTGCAATCCCCATTCTGGAAAGGAGTATTTTCGTGTTCCAGACAGTGCT ACTTTTAGCATTTGCCCAGGTGGAGAGCAGCCTGCTATGAAATCCAGCTCCCTTCCTTGCTGGGACTTGATGCCTGACATCAGTCAGTCA GTACTGGATGCATCCCTGCTTCAGAAACAGATCATGCTGGGCTTTTCTCCTGCCCCAGGTGCTGACAGCTCACAGTGCTGGAGCCTGCCA GCTATAGTTAGACCAGAGTTTCCCAGACAGAGTGTGGCAGTACCCCTCGGGAATTTCCGGGAAAATGGATTCTGTACCAGGTGGGAAGGA AAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATCTCAAGTACTACCGGCCAACTGAAGTGGAC TTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTTTCGATGAGCTGGTGAGGGAGATGGTGCAC GCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCCCGCCCTCCGGCTACAATCCCCGCAGAGTCT CCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGCCCCTGCTGCCGCTGCGCTGTCCCGGCCGCA AGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGGTCGCTTTGCGTTTGTCGAAGCCTCCTCTGA ATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTTGAAATTATGTTGTTACACAACAAATTGTGGGGCCTTCAAATTGTT >98276_98276_7_VPS13B-GMDS_VPS13B_chr8_100844880_ENST00000358544_GMDS_chr6_1726746_ENST00000380815_length(amino acids)=3305AA_BP=3229 MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL KLKDGIQDDHESCGSNSTNRSTAESTKSSIKPRRMQQAAPTDPDLPPGYVQSLIRRVVNNVNIVINNLILKYVEDDIVLSVNITSAECYT VGELWDRAFMDISATDLVLRKVINFSDCTVCLDKRNASGKIEFYQDPLLYKCSFRTRLHFTYENLNSKMPSVIKIHTLVESLKLSITDQQ LPMFIRIMQLGIALYYGEIGNFKEGEIEDLTCHNKDMLGNITGSEDETRIDMQYPAQHKGQELYSQQDEEQPQGWVSWAWSFVPAIVSYD DGEEDFVGNDPASTMHQQKAQTLKDPIVSIGFYCTKATVTFKLTEMQVESSYYSPQKVKSKEVLCWEQEGTTVEALMMGEPFFDCQIGFV GCRAMCLKGIMGVKDFEENMNRSETEACFFICGDNLSTKGFTYLTNSLFDYRSPENNGTRAEFILDSTHHKETYTEIAGMQRFGAFYMDY LYTMENTSGKGSTNQQDFSSGKSEDLGTVQEKSTKSLVIGPLDFRLDSSAVHRILKMIVCALEHEYEPYSRLKSDIKDENETILNPEEVA LLEEYIPTRHTSVTLLKCTCTISMAEFNLLDHLLPVIMGEKNSSNFMNTTNFQSLRPLPSIRILVDKINLEHSVPMYAEQLVHVVSSLTQ PSDNLLHYCYVHCYLKIFGFQAGLTSLDCSGSYCLPVPVIPSFSTALYGKLLKLPTCWTKRSQIAITEGIFELPNLTIQATRAQTLLLQA IYQSWSHLGNVSSSAVIEALINEIFLSIGVKSKNPLPTLEGSIQNVELKYCSTSLVKCASGTMGSIKICAKAPVDSGKEKLIPLLQGPSD TKDLHSTKWLNESRKPESLLAPDLMAFTIQVPQYIDYCHNSGAVLLCSIQGLAVNIDPILYTWLIYQPQKRTSRHMQQQPVVAVPLVMPV CRRKEDEVSIGSAPLAKQQSYQASEYASSPVKTKTVTESRPLSVPVKAMLNISESCRSPEERMKEFIGIVWNAVKHLTLQLEVQSCCVFI PNDSLPSPSTIVSGDIPGTVRSWYHGQTSMPGTLVLCLPQIKIISAGHKYMEPLQEIPFVIPRPILEEGDAFPWTISLHNFSIYTLLGKQ VTLCLVEPMGCTSTLAVTSQKLLATGPDTRHSFVVCLHVDLESLEIKCSNPQVQLFYELTDIMNKVWNKIQKRGNLNLSPTSPETMAGPV PTSPVRSSIGTAPPDTSTCSPSADIGTTTEGDSIQAGEESPFSDSVTLEQTTSNIGGTSGRVSLWMQWVLPKITIKLFAPDPENKGTEVC MVSELEDLSASIDVQDVYTKVKCKIESFNIDHYRSSLGEECWSLGQCGGVFLSCTDKLNRRTLLVRPISKQDPFSNCSGFFPSTTTKLLD GTHQQHGFLSLTYTKAVTKNVRHKLTSRNERRSFHKLSEGLMDGSPHFLHEILLSAQAFDIVLYFPLLNAIASIFQAKLPKTQKEKRKSP GQPMRTHTLTSRNLPLIYVNTSVIRIFIPKTEEMQPTVEANQAAKEDTVVLKIGSVAMAPQADNPLGRSVLRKDIYQRALNLGILRDPGS EIEDRQYQIDLQSINIGTAQWHQLKPEKESVSGGVVTETERNSQNPALEWNMASSIRRHQERRAILTPVLTDFSVRITGAPAVIFTKVVS PENLHTEEILVCGHSLEVNITTNLDFFLSVAQVQLLHQLIVANMTGLEPSNKAAEISKQEQKKVDIFDGGMAETSSRYSGAQDSGIGSDS VKIRIVQIEQHSGASQHRIARPSRQSSIVKNLNFIPFDIFITASRISLMTYSCMALSKSKSQEQKNNEKTDKSSLNLPEVDSDVAKPNQA CISTVTAEDLLRSSISFPSGKKIGVLSLESLHASTRSSARQALGITIVRQPGRRGTGDLQLEPFLYFIVSQPSLLLSCHHRKQRVEVSIF DAVLKGVASDYKCIDPGKTLPEALDYCTVWLQTVPGEIDSKSGIPPSFITLQIKDFLNGPADVNLDISKPLKANLSFTKLDQINLFLKKI KNAHSLAHSEETSAMSNTMVNKDDLPVSKYYRGKLSKPKIHGDGVQKISAQENMWRAVSCFQKISVQTTQIVISMETVPHTSKPCLLASL SNLNGSLSVKATQKVPGIILGSSFLLSINDFLLKTSLKERSRILIGPCCATANLEAKWCKHSGNPGPEQSIPKISIDLRGGLLQVFWGQE HLNCLVLLHELLNGYLNEEGNFEVQVSEPVPQMSSPVEKNQTFKSEQSSDDLRTGLFQYVQDAESLKLPGVYEVLFYNETEDCPGMMLWR YPEPRVLTLVRITPVPFNTTEDPDISTADLGDVLQVPCSLEYWDELQKVFVAFREFNLSESKVCELQLPDINLVNDQKKLVSSDLWRIVL NSSQNGADDQSSASESGSQSTCDPLVTPTALAACTRVDSCFTPWFVPSLCVSFQFAHLEFHLCHHLDQLGTAAPQYLQPFVSDRNMPSEL EYMIVSFREPHMYLRQWNNGSVCQEIQFLAQADCKLLECRNVTMQSVVKPFSIFGQMAVSSDVVEKLLDCTVIVDSVFVNLGQHVVHSLN TAIQAWQQNKCPEVEELVFSHFVICNDTQETLRFGQVDTDENILLASLHSHQYSWRSHKSPQLLHICIEGWGNWRWSEPFSVDHAGTFIR TIQYRGRTASLIIKVQQLNGVQKQIIICGRQIICSYLSQSIELKVVQHYIGQDGQAVVREHFDCLTAKQKLPSYILENNELTELCVKAKG DEDWSRDVCLESKAPEYSIVIQVPSSNSSIIYVWCTVLTLEPNSQVQQRMIVFSPLFIMRSHLPDPIIIHLEKRSLGLSETQIIPGKGQE KPLQNIEPDLVHHLTFQAREEYDPSDCAVPISTSLIKQIATKVHPGGTVNQILDEFYGPEKSLQPIWPYNKKDSDRNEQLSQWDSPMRVK LSIWKPYVRTLLIELLPWALLINESKWDLWLFEGEKIVLQVPAGKIIIPPNFQEAFQIGIYWANTNTVHKSVAIKLVHNLTSPKWKDGGN GEVVTLDEEAFVDTEIRLGAFPGHQKLCQFCISSMVQQGIQIIQIEDKTTIINNTPYQIFYKPQLSVCNPHSGKEYFRVPDSATFSICPG GEQPAMKSSSLPCWDLMPDISQSVLDASLLQKQIMLGFSPAPGADSSQCWSLPAIVRPEFPRQSVAVPLGNFRENGFCTRWEGKNENEVG -------------------------------------------------------------- >98276_98276_8_VPS13B-GMDS_VPS13B_chr8_100844880_ENST00000358544_GMDS_chr6_1726746_ENST00000530927_length(transcript)=10392nt_BP=9800nt GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGATGACCATGAAAGCTGTGGTTCTAATTCTACCAACCGTAGTACTGCT GAGAGCACAAAATCATCAATCAAACCGCGGAGAATGCAGCAGGCTGCTCCTACAGATCCTGACTTACCACCAGGTTATGTGCAGAGTCTG ATTAGACGAGTTGTAAATAATGTAAACATTGTGATAAATAATCTCATACTAAAATATGTTGAAGATGATATCGTCCTTTCCGTCAATATC ACTTCTGCAGAATGTTATACAGTAGGTGAATTATGGGATCGTGCATTCATGGATATTTCTGCAACTGATTTGGTGCTGAGAAAGGTTATC AATTTTTCTGACTGTACAGTTTGTCTTGATAAACGGAATGCCAGTGGTAAAATAGAATTTTACCAGGATCCTTTATTATACAAATGTTCC TTCAGAACTCGTCTTCATTTTACATATGAAAACCTAAATTCCAAGATGCCATCTGTTATTAAAATTCATACTTTAGTGGAAAGTTTGAAA CTTTCTATCACAGATCAACAACTGCCTATGTTTATTCGTATAATGCAACTTGGAATTGCTCTTTACTATGGAGAAATAGGCAATTTTAAA GAAGGCGAAATAGAGGACCTTACTTGTCATAATAAAGATATGCTAGGAAACATTACAGGTTCTGAAGATGAAACAAGAATAGATATGCAA TATCCTGCTCAGCATAAAGGTCAAGAGTTATATTCACAGCAAGATGAGGAGCAGCCACAGGGATGGGTGTCATGGGCCTGGTCCTTTGTG CCTGCAATTGTGAGTTATGACGATGGCGAGGAAGACTTTGTTGGGAACGATCCTGCATCAACCATGCATCAACAAAAAGCACAGACTTTG AAGGATCCTATTGTTTCTATAGGATTTTATTGCACAAAGGCAACGGTGACTTTCAAACTCACAGAAATGCAAGTTGAGAGTAGTTATTAC AGTCCACAGAAAGTAAAATCTAAAGAAGTATTGTGTTGGGAACAAGAAGGAACTACAGTTGAGGCCCTTATGATGGGAGAACCTTTCTTT GATTGCCAGATTGGGTTTGTTGGTTGCAGAGCCATGTGCCTTAAAGGAATTATGGGTGTTAAAGATTTTGAAGAGAATATGAATAGAAGT GAAACTGAAGCCTGTTTCTTCATTTGTGGTGACAATTTGAGTACGAAAGGTTTCACATACCTTACAAATTCATTGTTTGATTACCGAAGC CCAGAAAATAATGGTACTCGCGCAGAATTTATCTTGGATTCAACTCATCATAAGGAGACATACACTGAGATAGCTGGAATGCAACGGTTT GGGGCTTTTTATATGGATTACCTGTATACAATGGAGAACACTAGTGGCAAAGGTTCCACAAATCAACAAGACTTTTCTTCAGGGAAAAGT GAAGATTTGGGAACAGTTCAGGAGAAGTCCACCAAAAGCCTTGTTATAGGTCCTCTTGATTTTCGTTTGGATAGCAGTGCGGTGCATAGG ATTTTGAAAATGATTGTGTGTGCCTTGGAACATGAATATGAACCATATAGCAGGCTAAAATCAGATATTAAGGATGAAAATGAAACAATA CTGAATCCTGAAGAGGTGGCTCTTCTGGAGGAATATATTCCTACTCGACATACAAGTGTTACTCTCCTCAAATGTACCTGCACAATTTCC ATGGCTGAATTCAACTTGCTGGACCATTTACTACCTGTCATTATGGGAGAAAAGAACTCAAGTAACTTCATGAATACTACAAACTTCCAG TCTCTTCGGCCTTTGCCATCCATTCGAATATTGGTGGATAAAATTAATCTGGAACATTCAGTGCCAATGTATGCTGAACAGTTGGTGCAT GTGGTCAGCAGCCTTACTCAACCTTCTGATAACCTGCTTCATTATTGTTATGTACACTGCTATCTTAAGATATTTGGTTTCCAGGCAGGA CTGACGTCTTTGGATTGCAGTGGATCTTACTGCTTACCTGTACCAGTTATTCCCTCTTTCAGCACTGCTCTTTATGGGAAACTTCTGAAA CTCCCCACATGCTGGACCAAAAGATCTCAGATTGCTATAACTGAAGGTATATTTGAACTTCCAAATCTCACAATTCAAGCTACAAGAGCA CAGACACTTCTCTTGCAAGCAATATATCAAAGTTGGTCTCATCTTGGAAATGTCAGCTCTTCCGCAGTGATTGAAGCTTTGATAAATGAA ATCTTCCTAAGTATAGGTGTGAAATCTAAGAATCCCCTGCCAACTCTTGAGGGCTCAATCCAGAATGTTGAATTGAAGTACTGCAGCACA TCATTGGTCAAATGTGCCTCTGGGACCATGGGATCAATAAAAATTTGTGCCAAAGCCCCAGTTGATAGTGGAAAAGAGAAGTTGATTCCC TTGCTTCAGGGTCCTTCTGACACTAAAGACCTTCATAGCACCAAGTGGCTCAATGAGAGTAGAAAGCCAGAGTCTCTCTTAGCTCCAGAT TTGATGGCCTTCACAATCCAAGTTCCACAATATATTGACTACTGCCACAATTCCGGTGCTGTACTTCTTTGCAGTATACAAGGACTAGCA GTTAATATTGACCCAATCTTATATACGTGGCTCATCTATCAGCCTCAGAAACGAACAAGTAGACATATGCAACAGCAGCCTGTGGTAGCT GTTCCTCTTGTTATGCCAGTTTGTAGAAGGAAAGAGGATGAGGTGTCTATTGGAAGTGCCCCCTTGGCAAAGCAGCAATCATATCAGGCC TCTGAATATGCCAGCAGCCCTGTAAAAACAAAAACGGTAACAGAATCCCGCCCATTGTCAGTTCCTGTTAAAGCCATGTTGAATATATCT GAAAGCTGTAGAAGTCCTGAAGAAAGAATGAAGGAATTTATTGGAATTGTTTGGAATGCAGTGAAGCATCTCACACTACAGCTTGAAGTA CAATCTTGTTGTGTGTTTATTCCAAATGATAGCCTGCCTTCCCCAAGTACAATTGTATCTGGTGACATTCCTGGAACAGTAAGAAGTTGG TACCATGGACAAACCAGCATGCCGGGAACACTTGTCCTCTGTTTGCCTCAAATAAAGATTATTAGTGCTGGGCACAAGTATATGGAACCT CTGCAGGAGATTCCATTTGTTATCCCACGACCCATCCTTGAAGAAGGTGATGCTTTTCCTTGGACGATCAGCTTGCATAATTTCAGCATA TATACCCTTCTTGGAAAACAAGTGACACTTTGCCTAGTGGAACCTATGGGTTGCACCTCCACTCTAGCTGTCACGTCTCAAAAACTGCTT GCTACGGGACCTGATACACGACATTCATTTGTTGTCTGTCTCCATGTTGACCTAGAGTCACTAGAGATAAAATGCTCTAATCCCCAGGTC CAGCTCTTCTATGAACTAACTGATATCATGAATAAGGTCTGGAACAAGATTCAGAAGAGAGGCAATCTCAACCTATCTCCAACCTCTCCA GAGACCATGGCAGGGCCTGTTCCTACTTCTCCAGTTAGAAGCAGTATAGGCACAGCTCCTCCAGATACCAGCACATGCAGCCCATCTGCT GACATTGGGACTACTACTGAGGGAGATTCTATACAAGCAGGTGAGGAATCACCATTCTCAGATTCTGTGACCTTGGAACAAACTACAAGT AATATTGGAGGAACCAGTGGACGTGTTAGTTTATGGATGCAGTGGGTGCTTCCCAAAATTACTATAAAGCTCTTTGCTCCAGATCCTGAA AATAAAGGCACAGAGGTTTGTATGGTCAGTGAACTAGAAGATCTCAGTGCTTCCATAGATGTCCAGGATGTATATACCAAAGTGAAATGT AAAATAGAGAGTTTCAATATTGATCACTATAGAAGCAGCCTTGGGGAAGAGTGTTGGTCTTTGGGGCAATGTGGAGGTGTCTTCCTTTCC TGTACTGACAAGCTGAACAGACGCACCTTGTTGGTTCGACCCATCAGCAAGCAGGACCCTTTCAGTAATTGCTCTGGCTTCTTTCCTTCT ACAACTACAAAACTTCTAGATGGCACTCATCAGCAGCATGGATTCCTCTCTCTGACATACACAAAAGCTGTAACAAAAAATGTCCGCCAC AAGTTAACATCAAGAAATGAGCGAAGAAGTTTTCATAAGTTATCTGAAGGCCTAATGGATGGTTCTCCTCATTTTCTTCATGAAATTCTT CTTTCAGCACAAGCTTTTGATATTGTTCTTTATTTTCCTTTACTTAATGCCATTGCAAGTATATTTCAAGCAAAACTACCAAAGACCCAA AAAGAGAAAAGAAAATCTCCTGGTCAGCCCATGAGGACCCATACACTGACATCCCGCAATTTACCTTTGATTTATGTCAACACAAGTGTA ATCAGAATTTTTATTCCAAAAACAGAAGAAATGCAGCCAACTGTTGAAGCTAATCAGGCAGCAAAAGAAGACACTGTGGTTTTGAAGATT GGCTCTGTTGCCATGGCTCCCCAGGCTGACAATCCCCTTGGCAGATCTGTCCTTAGGAAAGATATTTACCAGAGAGCCTTGAACTTAGGA ATTCTTCGAGATCCTGGATCAGAAATCGAAGACAGACAATACCAAATAGATCTGCAGTCCATCAATATTGGTACTGCACAGTGGCATCAA CTAAAACCAGAGAAGGAAAGTGTCTCAGGAGGGGTGGTAACAGAGACTGAAAGGAATTCTCAAAATCCAGCCCTTGAGTGGAATATGGCC AGCAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACTGGAGCACCTGCTGTC ATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGAGATTTTAGTGTGTGGCCATTCCTTAGAAGTGAATATAACCACAAAC CTGGACTTCTTCCTAAGTGTGGCTCAAGTTCAACTCTTACATCAGTTAATAGTAGCAAATATGACTGGACTGGAACCATCAAACAAGGCT GCAGAGATCTCTAAACAAGAACAGAAAAAAGTGGATATATTTGATGGAGGCATGGCTGAAACCTCATCTCGCTACAGTGGTGCTCAGGAT AGTGGAATTGGCAGTGACAGTGTTAAAATCAGAATAGTGCAAATAGAGCAGCACAGTGGTGCCAGTCAGCATCGCATTGCCCGTCCCTCA CGCCAGTCATCAATTGTAAAAAATCTAAATTTTATTCCCTTTGACATATTTATTACTGCAAGTAGAATCTCACTAATGACCTATTCCTGT ATGGCCTTATCCAAATCGAAATCACAAGAACAGAAGAATAATGAAAAAACAGACAAGAGTTCATTAAATCTCCCAGAAGTTGATTCAGAT GTTGCTAAGCCCAACCAGGCATGTATTTCCACGGTGACAGCAGAAGATCTCTTAAGGAGCAGCATTTCTTTTCCTTCAGGGAAAAAAATA GGGGTCCTCTCTCTTGAAAGTCTTCATGCATCCACAAGGTCATCTGCTAGACAAGCACTTGGTATAACTATTGTTCGGCAGCCTGGTCGA AGAGGAACTGGTGACTTACAGCTAGAGCCTTTTCTGTACTTTATTGTGTCCCAGCCTTCCTTGCTTCTGAGTTGTCACCACAGAAAGCAG CGAGTGGAAGTATCCATTTTTGATGCTGTGCTTAAAGGGGTGGCCTCTGATTACAAATGTATAGATCCTGGGAAGACTCTGCCTGAAGCC CTTGATTATTGCACTGTTTGGCTACAGACAGTGCCTGGAGAAATAGACAGCAAAAGTGGTATTCCACCTTCCTTTATAACACTACAGATT AAAGACTTTCTGAATGGACCAGCGGATGTCAATTTGGATATATCAAAGCCTTTGAAAGCAAACCTGAGTTTCACCAAACTGGATCAGATA AACCTTTTTTTAAAGAAGATAAAAAATGCACACAGTTTGGCACATAGTGAAGAGACTTCAGCCATGTCCAACACCATGGTGAATAAGGAT GATCTTCCAGTCTCCAAATATTACCGTGGAAAGTTGTCTAAACCCAAAATTCATGGTGATGGAGTGCAAAAGATTTCAGCTCAAGAAAAC ATGTGGAGAGCTGTTTCCTGCTTTCAAAAAATTTCTGTTCAAACTACTCAGATTGTGATCTCCATGGAAACTGTACCCCATACCAGCAAA CCATGCCTGTTAGCATCTCTCTCAAACCTCAATGGAAGCCTTAGTGTCAAGGCAACACAAAAAGTACCTGGCATAATTCTTGGGTCATCA TTTCTACTCAGTATAAACGATTTTCTCCTTAAAACAAGTCTCAAAGAAAGAAGCCGCATTCTGATAGGACCATGTTGTGCTACTGCCAAT CTGGAAGCTAAGTGGTGTAAACACAGCGGGAATCCAGGCCCAGAACAATCCATACCAAAAATATCCATTGACTTAAGAGGAGGTCTACTA CAGGTCTTCTGGGGTCAAGAACATTTGAATTGTTTAGTTCTTCTACATGAATTACTCAATGGATACCTTAATGAGGAGGGAAATTTTGAA GTACAAGTTTCTGAACCAGTGCCTCAAATGTCATCTCCTGTGGAAAAGAATCAGACATTTAAAAGTGAACAAAGTTCAGATGACCTACGG ACAGGTCTATTTCAGTATGTACAGGATGCTGAATCTTTGAAATTGCCTGGGGTCTATGAAGTCTTATTTTATAATGAAACTGAAGATTGC CCAGGGATGATGTTATGGAGATATCCAGAACCTAGAGTACTCACCCTTGTACGAATAACTCCTGTACCTTTTAACACCACAGAGGATCCA GATATTAGCACAGCAGACCTTGGTGATGTGCTACAGGTTCCTTGTAGCTTGGAATACTGGGATGAACTCCAGAAGGTTTTTGTTGCATTT AGAGAATTTAATCTGTCTGAAAGCAAAGTTTGTGAACTGCAGTTGCCGGATATCAATCTCGTGAATGACCAGAAGAAATTAGTATCTTCA GATCTTTGGAGAATTGTCTTGAACAGCAGTCAAAATGGAGCTGATGACCAAAGCTCTGCAAGTGAGTCTGGTTCTCAAAGCACTTGTGAT CCACTTGTGACTCCAACAGCCCTGGCTGCCTGTACCAGAGTTGACTCCTGCTTTACCCCATGGTTTGTCCCATCCCTTTGCGTTTCTTTC CAGTTTGCTCACCTGGAATTCCATCTTTGTCATCACCTTGACCAACTAGGCACAGCTGCACCACAGTACCTACAGCCATTTGTTTCCGAC AGAAATATGCCATCTGAACTAGAATACATGATTGTTTCCTTCAGAGAACCACACATGTATCTTCGACAGTGGAATAATGGTTCTGTCTGT CAGGAGATCCAGTTCTTAGCTCAAGCAGACTGTAAACTTCTAGAGTGCAGAAATGTCACTATGCAAAGTGTGGTGAAACCCTTCAGCATC TTCGGGCAGATGGCAGTTTCCAGCGATGTAGTGGAAAAGCTGCTTGACTGCACCGTGATAGTTGATTCTGTATTTGTAAACCTTGGACAG CATGTAGTCCATTCACTAAACACTGCAATACAAGCTTGGCAACAGAACAAATGCCCTGAGGTAGAGGAGTTGGTCTTCAGCCATTTTGTG ATCTGTAATGACACACAGGAGACACTGCGGTTTGGCCAGGTGGATACTGATGAAAATATTCTGCTGGCGAGTCTCCACAGTCACCAGTAC AGCTGGCGCTCTCACAAATCCCCACAGCTGTTACACATCTGTATTGAAGGTTGGGGCAACTGGCGTTGGTCAGAGCCTTTCAGTGTGGAC CATGCCGGGACTTTTATTAGAACAATTCAGTACAGGGGTCGAACTGCTTCTCTCATCATCAAGGTTCAGCAACTCAATGGAGTACAAAAA CAGATTATCATCTGTGGAAGACAGATCATCTGTAGTTACTTGTCTCAAAGCATAGAACTAAAAGTCGTTCAGCATTACATTGGTCAAGAT GGACAAGCTGTAGTTCGGGAACATTTTGACTGCCTCACAGCCAAACAGAAATTGCCTTCGTACATACTAGAAAACAATGAACTGACGGAG CTGTGTGTGAAGGCCAAAGGAGATGAAGACTGGTCAAGAGATGTGTGCCTGGAATCCAAAGCCCCTGAGTACAGCATTGTCATTCAGGTG CCATCTTCAAACAGTTCCATTATTTATGTCTGGTGCACAGTTTTGACTTTAGAACCCAACTCTCAAGTGCAACAACGAATGATTGTGTTC AGCCCTCTTTTTATCATGAGGAGTCATCTTCCAGACCCCATTATCATACATTTGGAGAAAAGGAGTCTGGGATTGAGTGAAACACAAATT ATTCCAGGAAAAGGGCAGGAAAAACCACTGCAAAACATAGAACCTGACCTTGTACATCACCTGACATTCCAAGCAAGAGAAGAATATGAT CCTTCAGATTGTGCAGTTCCCATCTCAACATCCCTCATTAAGCAAATAGCCACTAAGGTACACCCTGGAGGCACAGTTAATCAGATCCTT GACGAATTCTATGGGCCAGAAAAGTCGCTTCAACCCATATGGCCCTATAATAAGAAGGATTCTGACAGGAATGAACAGCTAAGTCAGTGG GATAGCCCAATGCGAGTGAAGCTGTCAATCTGGAAGCCATATGTTAGAACTTTGTTGATAGAACTTCTGCCCTGGGCCCTGCTTATCAAT GAATCCAAATGGGACCTCTGGCTATTTGAAGGAGAGAAAATTGTTCTACAGGTTCCTGCTGGCAAAATTATTATTCCTCCTAATTTTCAG GAAGCTTTTCAAATTGGAATATACTGGGCAAATACAAACACTGTGCACAAGTCAGTAGCAATTAAACTGGTCCATAACCTGACATCTCCA AAGTGGAAAGATGGAGGTAATGGTGAAGTTGTGACACTGGATGAAGAAGCGTTTGTTGATACTGAAATAAGACTTGGTGCTTTTCCAGGA CATCAGAAGTTATGTCAGTTCTGCATTTCCTCCATGGTACAGCAAGGTATACAAATTATTCAGATTGAAGACAAGACTACAATAATCAAT AATACACCATATCAAATATTTTATAAACCACAGCTATCTGTCTGCAATCCCCATTCTGGAAAGGAGTATTTTCGTGTTCCAGACAGTGCT ACTTTTAGCATTTGCCCAGGTGGAGAGCAGCCTGCTATGAAATCCAGCTCCCTTCCTTGCTGGGACTTGATGCCTGACATCAGTCAGTCA GTACTGGATGCATCCCTGCTTCAGAAACAGATCATGCTGGGCTTTTCTCCTGCCCCAGGTGCTGACAGCTCACAGTGCTGGAGCCTGCCA GCTATAGTTAGACCAGAGTTTCCCAGACAGAGTGTGGCAGTACCCCTCGGGAATTTCCGGGAAAATGGATTCTGTACCAGGTGGGAAGGA AAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATCTCAAGTACTACCGGCCAACTGAAGTGGAC TTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTTTCGATGAGCTGGTGAGGGAGATGGTGCAC GCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCCCGCCCTCCGGCTACAATCCCCGCAGAGTCT CCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGCCCCTGCTGCCGCTGCGCTGTCCCGGCCGCA AGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGGTCGCTTTGCGTTTGTCGAAGCCTCCTCTGA ATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTTGAAATTATGTTGTTACACAACAAATTGTGGGGCCTTCAAATTGTT >98276_98276_8_VPS13B-GMDS_VPS13B_chr8_100844880_ENST00000358544_GMDS_chr6_1726746_ENST00000530927_length(amino acids)=3305AA_BP=3229 MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL KLKDGIQDDHESCGSNSTNRSTAESTKSSIKPRRMQQAAPTDPDLPPGYVQSLIRRVVNNVNIVINNLILKYVEDDIVLSVNITSAECYT VGELWDRAFMDISATDLVLRKVINFSDCTVCLDKRNASGKIEFYQDPLLYKCSFRTRLHFTYENLNSKMPSVIKIHTLVESLKLSITDQQ LPMFIRIMQLGIALYYGEIGNFKEGEIEDLTCHNKDMLGNITGSEDETRIDMQYPAQHKGQELYSQQDEEQPQGWVSWAWSFVPAIVSYD DGEEDFVGNDPASTMHQQKAQTLKDPIVSIGFYCTKATVTFKLTEMQVESSYYSPQKVKSKEVLCWEQEGTTVEALMMGEPFFDCQIGFV GCRAMCLKGIMGVKDFEENMNRSETEACFFICGDNLSTKGFTYLTNSLFDYRSPENNGTRAEFILDSTHHKETYTEIAGMQRFGAFYMDY LYTMENTSGKGSTNQQDFSSGKSEDLGTVQEKSTKSLVIGPLDFRLDSSAVHRILKMIVCALEHEYEPYSRLKSDIKDENETILNPEEVA LLEEYIPTRHTSVTLLKCTCTISMAEFNLLDHLLPVIMGEKNSSNFMNTTNFQSLRPLPSIRILVDKINLEHSVPMYAEQLVHVVSSLTQ PSDNLLHYCYVHCYLKIFGFQAGLTSLDCSGSYCLPVPVIPSFSTALYGKLLKLPTCWTKRSQIAITEGIFELPNLTIQATRAQTLLLQA IYQSWSHLGNVSSSAVIEALINEIFLSIGVKSKNPLPTLEGSIQNVELKYCSTSLVKCASGTMGSIKICAKAPVDSGKEKLIPLLQGPSD TKDLHSTKWLNESRKPESLLAPDLMAFTIQVPQYIDYCHNSGAVLLCSIQGLAVNIDPILYTWLIYQPQKRTSRHMQQQPVVAVPLVMPV CRRKEDEVSIGSAPLAKQQSYQASEYASSPVKTKTVTESRPLSVPVKAMLNISESCRSPEERMKEFIGIVWNAVKHLTLQLEVQSCCVFI PNDSLPSPSTIVSGDIPGTVRSWYHGQTSMPGTLVLCLPQIKIISAGHKYMEPLQEIPFVIPRPILEEGDAFPWTISLHNFSIYTLLGKQ VTLCLVEPMGCTSTLAVTSQKLLATGPDTRHSFVVCLHVDLESLEIKCSNPQVQLFYELTDIMNKVWNKIQKRGNLNLSPTSPETMAGPV PTSPVRSSIGTAPPDTSTCSPSADIGTTTEGDSIQAGEESPFSDSVTLEQTTSNIGGTSGRVSLWMQWVLPKITIKLFAPDPENKGTEVC MVSELEDLSASIDVQDVYTKVKCKIESFNIDHYRSSLGEECWSLGQCGGVFLSCTDKLNRRTLLVRPISKQDPFSNCSGFFPSTTTKLLD GTHQQHGFLSLTYTKAVTKNVRHKLTSRNERRSFHKLSEGLMDGSPHFLHEILLSAQAFDIVLYFPLLNAIASIFQAKLPKTQKEKRKSP GQPMRTHTLTSRNLPLIYVNTSVIRIFIPKTEEMQPTVEANQAAKEDTVVLKIGSVAMAPQADNPLGRSVLRKDIYQRALNLGILRDPGS EIEDRQYQIDLQSINIGTAQWHQLKPEKESVSGGVVTETERNSQNPALEWNMASSIRRHQERRAILTPVLTDFSVRITGAPAVIFTKVVS PENLHTEEILVCGHSLEVNITTNLDFFLSVAQVQLLHQLIVANMTGLEPSNKAAEISKQEQKKVDIFDGGMAETSSRYSGAQDSGIGSDS VKIRIVQIEQHSGASQHRIARPSRQSSIVKNLNFIPFDIFITASRISLMTYSCMALSKSKSQEQKNNEKTDKSSLNLPEVDSDVAKPNQA CISTVTAEDLLRSSISFPSGKKIGVLSLESLHASTRSSARQALGITIVRQPGRRGTGDLQLEPFLYFIVSQPSLLLSCHHRKQRVEVSIF DAVLKGVASDYKCIDPGKTLPEALDYCTVWLQTVPGEIDSKSGIPPSFITLQIKDFLNGPADVNLDISKPLKANLSFTKLDQINLFLKKI KNAHSLAHSEETSAMSNTMVNKDDLPVSKYYRGKLSKPKIHGDGVQKISAQENMWRAVSCFQKISVQTTQIVISMETVPHTSKPCLLASL SNLNGSLSVKATQKVPGIILGSSFLLSINDFLLKTSLKERSRILIGPCCATANLEAKWCKHSGNPGPEQSIPKISIDLRGGLLQVFWGQE HLNCLVLLHELLNGYLNEEGNFEVQVSEPVPQMSSPVEKNQTFKSEQSSDDLRTGLFQYVQDAESLKLPGVYEVLFYNETEDCPGMMLWR YPEPRVLTLVRITPVPFNTTEDPDISTADLGDVLQVPCSLEYWDELQKVFVAFREFNLSESKVCELQLPDINLVNDQKKLVSSDLWRIVL NSSQNGADDQSSASESGSQSTCDPLVTPTALAACTRVDSCFTPWFVPSLCVSFQFAHLEFHLCHHLDQLGTAAPQYLQPFVSDRNMPSEL EYMIVSFREPHMYLRQWNNGSVCQEIQFLAQADCKLLECRNVTMQSVVKPFSIFGQMAVSSDVVEKLLDCTVIVDSVFVNLGQHVVHSLN TAIQAWQQNKCPEVEELVFSHFVICNDTQETLRFGQVDTDENILLASLHSHQYSWRSHKSPQLLHICIEGWGNWRWSEPFSVDHAGTFIR TIQYRGRTASLIIKVQQLNGVQKQIIICGRQIICSYLSQSIELKVVQHYIGQDGQAVVREHFDCLTAKQKLPSYILENNELTELCVKAKG DEDWSRDVCLESKAPEYSIVIQVPSSNSSIIYVWCTVLTLEPNSQVQQRMIVFSPLFIMRSHLPDPIIIHLEKRSLGLSETQIIPGKGQE KPLQNIEPDLVHHLTFQAREEYDPSDCAVPISTSLIKQIATKVHPGGTVNQILDEFYGPEKSLQPIWPYNKKDSDRNEQLSQWDSPMRVK LSIWKPYVRTLLIELLPWALLINESKWDLWLFEGEKIVLQVPAGKIIIPPNFQEAFQIGIYWANTNTVHKSVAIKLVHNLTSPKWKDGGN GEVVTLDEEAFVDTEIRLGAFPGHQKLCQFCISSMVQQGIQIIQIEDKTTIINNTPYQIFYKPQLSVCNPHSGKEYFRVPDSATFSICPG GEQPAMKSSSLPCWDLMPDISQSVLDASLLQKQIMLGFSPAPGADSSQCWSLPAIVRPEFPRQSVAVPLGNFRENGFCTRWEGKNENEVG -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for VPS13B-GMDS |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for VPS13B-GMDS |
| 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 |
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Related Diseases for VPS13B-GMDS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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