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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:PMS1-HIBCH (FusionGDB2 ID:66672) |
Fusion Gene Summary for PMS1-HIBCH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PMS1-HIBCH | Fusion gene ID: 66672 | Hgene | Tgene | Gene symbol | PMS1 | HIBCH | Gene ID | 5378 | 26275 |
| Gene name | PMS1 homolog 1, mismatch repair system component | 3-hydroxyisobutyryl-CoA hydrolase | |
| Synonyms | HNPCC3|MLH2|PMSL1|hPMS1 | HIBYLCOAH | |
| Cytomap | 2q32.2 | 2q32.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | PMS1 protein homolog 1DNA mismatch repair protein PMS1PMS1 postmeiotic segregation increased 1human homolog of yeast mutLmismatch repair gene PMSL1rhabdomyosarcoma antigen MU-RMS-40.10Brhabdomyosarcoma antigen MU-RMS-40.10E | 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial3-hydroxyisobutyryl-Coenzyme A hydrolaseHIB-CoA hydrolaseHIBYL-CoA-Htesticular tissue protein Li 86 | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | PMS1 | Q6NVY1 | |
| Ensembl transtripts involved in fusion gene | ENST00000409823, ENST00000418224, ENST00000432292, ENST00000441310, ENST00000447232, ENST00000374826, ENST00000409985, ENST00000421722, | ENST00000486981, ENST00000359678, ENST00000392332, ENST00000410045, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 4 X 3 X 4=48 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PMS1 [Title/Abstract] AND HIBCH [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | PMS1(190738382)-HIBCH(191110938), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 |
| Fusion gene breakpoints across PMS1 (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 HIBCH (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 | HNSC | TCGA-CV-7418-01A | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
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Fusion Gene ORF analysis for PMS1-HIBCH |
| 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 |
| 5CDS-intron | ENST00000409823 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| 5CDS-intron | ENST00000418224 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| 5CDS-intron | ENST00000432292 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| 5CDS-intron | ENST00000441310 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| 5CDS-intron | ENST00000447232 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000409823 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000409823 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000409823 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000418224 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000418224 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000418224 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000432292 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000432292 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000432292 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000441310 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000441310 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000441310 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000447232 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000447232 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000447232 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000374826 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000374826 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000374826 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000409985 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000409985 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000409985 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000421722 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000421722 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000421722 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-intron | ENST00000374826 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-intron | ENST00000409985 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-intron | ENST00000421722 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| 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) |
| ENST00000441310 | PMS1 | chr2 | 190738382 | + | ENST00000392332 | HIBCH | chr2 | 191110938 | - | 4440 | 2867 | 218 | 3133 | 971 |
| ENST00000441310 | PMS1 | chr2 | 190738382 | + | ENST00000359678 | HIBCH | chr2 | 191110938 | - | 3761 | 2867 | 218 | 3277 | 1019 |
| ENST00000441310 | PMS1 | chr2 | 190738382 | + | ENST00000410045 | HIBCH | chr2 | 191110938 | - | 3380 | 2867 | 218 | 3277 | 1019 |
| ENST00000418224 | PMS1 | chr2 | 190738382 | + | ENST00000392332 | HIBCH | chr2 | 191110938 | - | 4229 | 2656 | 550 | 2922 | 790 |
| ENST00000418224 | PMS1 | chr2 | 190738382 | + | ENST00000359678 | HIBCH | chr2 | 191110938 | - | 3550 | 2656 | 550 | 3066 | 838 |
| ENST00000418224 | PMS1 | chr2 | 190738382 | + | ENST00000410045 | HIBCH | chr2 | 191110938 | - | 3169 | 2656 | 550 | 3066 | 838 |
| ENST00000409823 | PMS1 | chr2 | 190738382 | + | ENST00000392332 | HIBCH | chr2 | 191110938 | - | 4203 | 2630 | 98 | 2896 | 932 |
| ENST00000409823 | PMS1 | chr2 | 190738382 | + | ENST00000359678 | HIBCH | chr2 | 191110938 | - | 3524 | 2630 | 98 | 3040 | 980 |
| ENST00000409823 | PMS1 | chr2 | 190738382 | + | ENST00000410045 | HIBCH | chr2 | 191110938 | - | 3143 | 2630 | 98 | 3040 | 980 |
| ENST00000447232 | PMS1 | chr2 | 190738382 | + | ENST00000392332 | HIBCH | chr2 | 191110938 | - | 3791 | 2218 | 55 | 2484 | 809 |
| ENST00000447232 | PMS1 | chr2 | 190738382 | + | ENST00000359678 | HIBCH | chr2 | 191110938 | - | 3112 | 2218 | 55 | 2628 | 857 |
| ENST00000447232 | PMS1 | chr2 | 190738382 | + | ENST00000410045 | HIBCH | chr2 | 191110938 | - | 2731 | 2218 | 55 | 2628 | 857 |
| ENST00000432292 | PMS1 | chr2 | 190738382 | + | ENST00000392332 | HIBCH | chr2 | 191110938 | - | 3970 | 2397 | 291 | 2663 | 790 |
| ENST00000432292 | PMS1 | chr2 | 190738382 | + | ENST00000359678 | HIBCH | chr2 | 191110938 | - | 3291 | 2397 | 291 | 2807 | 838 |
| ENST00000432292 | PMS1 | chr2 | 190738382 | + | ENST00000410045 | HIBCH | chr2 | 191110938 | - | 2910 | 2397 | 291 | 2807 | 838 |
| 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 |
| ENST00000441310 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 8.16E-05 | 0.99991846 |
| ENST00000441310 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.000174239 | 0.9998258 |
| ENST00000441310 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.000189338 | 0.99981064 |
| ENST00000418224 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.000192719 | 0.9998073 |
| ENST00000418224 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.000218905 | 0.9997811 |
| ENST00000418224 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.000247541 | 0.99975246 |
| ENST00000409823 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.000105919 | 0.999894 |
| ENST00000409823 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.0001131 | 0.9998869 |
| ENST00000409823 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.000121068 | 0.9998789 |
| ENST00000447232 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.000152658 | 0.9998473 |
| ENST00000447232 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.000194483 | 0.9998055 |
| ENST00000447232 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.000209836 | 0.99979013 |
| ENST00000432292 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.000195297 | 0.9998047 |
| ENST00000432292 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.000245388 | 0.9997546 |
| ENST00000432292 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - | 0.00029337 | 0.99970657 |
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Fusion Genomic Features for PMS1-HIBCH |
| 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 PMS1-HIBCH |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:190738382/chr2:191110938) - 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 |
| PMS1 | HIBCH |
| 932 | FUNCTION: Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA. {ECO:0000269|PubMed:8824301}. |
| 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 |
| Hgene | PMS1 | chr2:190738382 | chr2:191110938 | ENST00000409823 | + | 11 | 12 | 571_639 | 839 | 894.0 | DNA binding | HMG box |
| Hgene | PMS1 | chr2:190738382 | chr2:191110938 | ENST00000441310 | + | 12 | 13 | 571_639 | 878 | 933.0 | DNA binding | HMG box |
| Hgene | PMS1 | chr2:190738382 | chr2:191110938 | ENST00000447232 | + | 11 | 12 | 571_639 | 716 | 771.0 | DNA binding | HMG box |
| - 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 |
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Fusion Gene Sequence for PMS1-HIBCH |
| 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. |
| >66672_66672_1_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000409823_HIBCH_chr2_191110938_ENST00000359678_length(transcript)=3524nt_BP=2630nt GGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCTCGCGCTAGCAGG AAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCA GTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTG AGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAG ATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGG CTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTG TAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCC AAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGATTTATCTCAGTGGATTTCTTCCAA AGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATA TCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTC CTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATC TGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTA AAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAA ATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTA GTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGG AATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATG AGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATA TTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTA ATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCA AGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAA CACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACA ATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATT TGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTC AAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGG ATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAG TAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTC TTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTC GTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTC TCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCA AAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAG CCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTC CAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTC AAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATC TAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGT ATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGT TTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTTATTG GAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAA TTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTG AGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAATCAACTTAGGTATACAATATAAAAAATAAAGACCCTG >66672_66672_1_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000409823_HIBCH_chr2_191110938_ENST00000359678_length(amino acids)=980AA_BP=844 MLKAKMKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLE NLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDL LMSFGILKPDLRIVFVHNKIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTA DVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDM HNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEE AGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKP MSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQ KHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEE ALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPF YGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTS -------------------------------------------------------------- >66672_66672_2_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000409823_HIBCH_chr2_191110938_ENST00000392332_length(transcript)=4203nt_BP=2630nt GGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCTCGCGCTAGCAGG AAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCA GTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTG AGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAG ATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGG CTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTG TAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCC AAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGATTTATCTCAGTGGATTTCTTCCAA AGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATA TCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTC CTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATC TGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTA AAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAA ATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTA GTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGG AATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATG AGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATA TTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTA ATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCA AGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAA CACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACA ATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATT TGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTC AAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGG ATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAG TAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTC TTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTC GTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTC TCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCA AAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAG CCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTC CAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTC AAGCTTGTATGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCA CTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCAT GTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCA AAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTTATATATTATCT GTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTT TGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTT GGCTTGTATGTTGATGAAATCAACTTAGGTATACAATATAAAAAATAAAGACCCTGAAAATTGTTTTGGATACTGTGTTAATGCCTCATA GAATTTTTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTCTCCATATATGAGTGTGTTTTAAAGTAACTGAGTTACTGTAGCAGAA GAGCTCCTTTTATAAACATTAGAAACCTTGGGCAGAGAGAAAAGATTTTTATTAACGTCCCTCTTCAGTATTAACTCAGACTTGGTCTTC CCTAAAATAATCAGAATACCATCCCATGGTGAAACTGAAAGGATTATTTTCTTGTTATTTGTGATATTTGTTAATCTGGTAGAATGAGAA ATTAGGAAACTCCAATCTCTTAGATAGAGACACTCTGTTTTTTTATAATTTACGTAAGACTTTTGTGTGATAATTATCCTTACAAACAAG GTTCAAGTCAGGAGAAAAAAATTAATTGAAAGCAAGAAGACTTTTGTTCAAAAGATATATTCAATAATTGATATTGTTAATGAAGTAAGT ACTTTTTAAGGTATGAAAGAACTAAAAGGTATTCCAGACTCAGAACCTTAAAGTTCTAGGCAAGAATAATTTTTAAACTAAAGGTAAGTT TATAAATTAACAAAGTAAACAAAATTTATGATTTTGTTTTTTGTTTGTAATTTTTGTTTAATTTTAAAGGTAAGTTTATAAATTAACAAA >66672_66672_2_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000409823_HIBCH_chr2_191110938_ENST00000392332_length(amino acids)=932AA_BP=844 MLKAKMKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLE NLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDL LMSFGILKPDLRIVFVHNKIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTA DVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDM HNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEE AGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKP MSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQ KHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEE ALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPF YGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTS -------------------------------------------------------------- >66672_66672_3_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000409823_HIBCH_chr2_191110938_ENST00000410045_length(transcript)=3143nt_BP=2630nt GGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCTCGCGCTAGCAGG AAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCA GTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTG AGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAG ATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGG CTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTG TAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCC AAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGATTTATCTCAGTGGATTTCTTCCAA AGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATA TCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTC CTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATC TGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTA AAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAA ATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTA GTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGG AATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATG AGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATA TTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTA ATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCA AGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAA CACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACA ATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATT TGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTC AAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGG ATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAG TAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTC TTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTC GTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTC TCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCA AAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAG CCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTC CAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTC AAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATC TAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGT >66672_66672_3_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000409823_HIBCH_chr2_191110938_ENST00000410045_length(amino acids)=980AA_BP=844 MLKAKMKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLE NLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDL LMSFGILKPDLRIVFVHNKIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTA DVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDM HNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEE AGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKP MSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQ KHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEE ALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPF YGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTS -------------------------------------------------------------- >66672_66672_4_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000418224_HIBCH_chr2_191110938_ENST00000359678_length(transcript)=3550nt_BP=2656nt GTGCTGGGTGCGGGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCT CGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCA CTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGAT TTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAA ATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTACAACTGT AACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCA AGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGT ATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCA GATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAA CAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCC TGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGA ATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGT TTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGT TGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTAT TGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAA TGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGA CCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATAT ACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTA TCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTA TGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAA TCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAA GGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAA GATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCA GTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACA AAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGA GGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGA AAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAG TGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTT GGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAA GGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACAT GGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCA ATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGT ACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCA GAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAA ATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTT TATATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTAT CAGAATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATA GAGATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAA TGTGAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAATCAACTTAGGT >66672_66672_4_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000418224_HIBCH_chr2_191110938_ENST00000359678_length(amino acids)=838AA_BP=702 MSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRP VHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAA DIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSW ENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIP EQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATK DLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKV DLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGST YLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKI NSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPK -------------------------------------------------------------- >66672_66672_5_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000418224_HIBCH_chr2_191110938_ENST00000392332_length(transcript)=4229nt_BP=2656nt GTGCTGGGTGCGGGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCT CGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCA CTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGAT TTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAA ATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTACAACTGT AACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCA AGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGT ATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCA GATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAA CAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCC TGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGA ATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGT TTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGT TGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTAT TGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAA TGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGA CCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATAT ACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTA TCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTA TGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAA TCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAA GGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAA GATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCA GTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACA AAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGA GGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGA AAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAG TGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTT GGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAA GGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACAT GGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCA ATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGT ACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAA GTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTG TAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGTTTCCGCAT TTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTTATTGGAACTAGC TATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAATTATTTAC TGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTGAGTGGTAT ATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAATCAACTTAGGTATACAATATAAAAAATAAAGACCCTGAAAATTGT TTTGGATACTGTGTTAATGCCTCATAGAATTTTTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTCTCCATATATGAGTGTGTTTT AAAGTAACTGAGTTACTGTAGCAGAAGAGCTCCTTTTATAAACATTAGAAACCTTGGGCAGAGAGAAAAGATTTTTATTAACGTCCCTCT TCAGTATTAACTCAGACTTGGTCTTCCCTAAAATAATCAGAATACCATCCCATGGTGAAACTGAAAGGATTATTTTCTTGTTATTTGTGA TATTTGTTAATCTGGTAGAATGAGAAATTAGGAAACTCCAATCTCTTAGATAGAGACACTCTGTTTTTTTATAATTTACGTAAGACTTTT GTGTGATAATTATCCTTACAAACAAGGTTCAAGTCAGGAGAAAAAAATTAATTGAAAGCAAGAAGACTTTTGTTCAAAAGATATATTCAA TAATTGATATTGTTAATGAAGTAAGTACTTTTTAAGGTATGAAAGAACTAAAAGGTATTCCAGACTCAGAACCTTAAAGTTCTAGGCAAG AATAATTTTTAAACTAAAGGTAAGTTTATAAATTAACAAAGTAAACAAAATTTATGATTTTGTTTTTTGTTTGTAATTTTTGTTTAATTT >66672_66672_5_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000418224_HIBCH_chr2_191110938_ENST00000392332_length(amino acids)=790AA_BP=702 MSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRP VHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAA DIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSW ENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIP EQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATK DLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKV DLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGST YLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKI -------------------------------------------------------------- >66672_66672_6_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000418224_HIBCH_chr2_191110938_ENST00000410045_length(transcript)=3169nt_BP=2656nt GTGCTGGGTGCGGGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCT CGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCA CTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGAT TTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAA ATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTACAACTGT AACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCA AGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGT ATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCA GATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAA CAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCC TGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGA ATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGT TTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGT TGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTAT TGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAA TGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGA CCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATAT ACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTA TCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTA TGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAA TCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAA GGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAA GATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCA GTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACA AAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGA GGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGA AAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAG TGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTT GGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAA GGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACAT GGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCA ATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGT ACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCA GAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAA ATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTT >66672_66672_6_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000418224_HIBCH_chr2_191110938_ENST00000410045_length(amino acids)=838AA_BP=702 MSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRP VHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAA DIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSW ENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIP EQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATK DLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKV DLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGST YLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKI NSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPK -------------------------------------------------------------- >66672_66672_7_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000432292_HIBCH_chr2_191110938_ENST00000359678_length(transcript)=3291nt_BP=2397nt GTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAG TTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACT GGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATA AAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAG AAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCT GAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTC ATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACT CGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTA CAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAAT AAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAAT TATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCAC CAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATT TCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAAT GGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGC AGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGT AATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAA GTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTT CTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAA TATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGAT GGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGAT GAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAAT TTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACA TCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCA GAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGAC CAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACT GAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAAC AGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTT GAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTT GCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACC TTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATT GATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGC AGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTG CTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGAC GTGAAAATTATCAGAATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAG TAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGA AGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAA >66672_66672_7_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000432292_HIBCH_chr2_191110938_ENST00000359678_length(amino acids)=838AA_BP=702 MSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRP VHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAA DIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSW ENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIP EQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATK DLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKV DLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGST YLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKI NSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPK -------------------------------------------------------------- >66672_66672_8_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000432292_HIBCH_chr2_191110938_ENST00000392332_length(transcript)=3970nt_BP=2397nt GTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAG TTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACT GGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATA AAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAG AAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCT GAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTC ATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACT CGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTA CAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAAT AAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAAT TATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCAC CAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATT TCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAAT GGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGC AGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGT AATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAA GTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTT CTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAA TATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGAT GGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGAT GAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAAT TTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACA TCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCA GAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGAC CAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACT GAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAAC AGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTT GAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTT GCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACC TTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTG ATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAA GGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAAT GGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTTA TTGGAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCC TAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCTC TTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAATCAACTTAGGTATACAATATAAAAAATAAAGACC CTGAAAATTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTCTCCATATAT GAGTGTGTTTTAAAGTAACTGAGTTACTGTAGCAGAAGAGCTCCTTTTATAAACATTAGAAACCTTGGGCAGAGAGAAAAGATTTTTATT AACGTCCCTCTTCAGTATTAACTCAGACTTGGTCTTCCCTAAAATAATCAGAATACCATCCCATGGTGAAACTGAAAGGATTATTTTCTT GTTATTTGTGATATTTGTTAATCTGGTAGAATGAGAAATTAGGAAACTCCAATCTCTTAGATAGAGACACTCTGTTTTTTTATAATTTAC GTAAGACTTTTGTGTGATAATTATCCTTACAAACAAGGTTCAAGTCAGGAGAAAAAAATTAATTGAAAGCAAGAAGACTTTTGTTCAAAA GATATATTCAATAATTGATATTGTTAATGAAGTAAGTACTTTTTAAGGTATGAAAGAACTAAAAGGTATTCCAGACTCAGAACCTTAAAG TTCTAGGCAAGAATAATTTTTAAACTAAAGGTAAGTTTATAAATTAACAAAGTAAACAAAATTTATGATTTTGTTTTTTGTTTGTAATTT TTGTTTAATTTTAAAGGTAAGTTTATAAATTAACAAACAAAATTTATAATTTTTTGTTTGTAATTTTTGTTTATAAACAAAATAAATTTT >66672_66672_8_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000432292_HIBCH_chr2_191110938_ENST00000392332_length(amino acids)=790AA_BP=702 MSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRP VHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAA DIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSW ENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIP EQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATK DLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKV DLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGST YLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKI -------------------------------------------------------------- >66672_66672_9_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000432292_HIBCH_chr2_191110938_ENST00000410045_length(transcript)=2910nt_BP=2397nt GTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAG TTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACT GGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATA AAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAG AAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCT GAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTC ATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACT CGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTA CAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAAT AAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAAT TATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCAC CAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATT TCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAAT GGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGC AGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGT AATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAA GTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTT CTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAA TATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGAT GGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGAT GAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAAT TTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACA TCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCA GAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGAC CAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACT GAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAAC AGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTT GAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTT GCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACC TTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATT GATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGC AGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTG >66672_66672_9_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000432292_HIBCH_chr2_191110938_ENST00000410045_length(amino acids)=838AA_BP=702 MSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRP VHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAA DIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSW ENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIP EQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATK DLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKV DLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGST YLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKI NSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPK -------------------------------------------------------------- >66672_66672_10_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000441310_HIBCH_chr2_191110938_ENST00000359678_length(transcript)=3761nt_BP=2867nt AGACTCGCTGCCAGCGGATTGGCTGCGAGCAGCGCCAATCTCACGTTGCCCCCGGGCGAGGCGGGACTCAGTGCCGCGCTCTCTGCACCC GCTCTGCCGCGCGCGTGCGTGCTGGGTGCGGGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTG GATGGTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTT CAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTA AACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGT ACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTA TAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGA AACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAA AAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATA ACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGG AATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTT CAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGA AATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAG ATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTA CAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAG TGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACA CTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTA AGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTA AGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAA TTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAA GTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAA TAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTC AAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGA GTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGT CACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTAT CTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTA TGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTC CTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTG AGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTAT ATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGA TACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAA TTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATC GAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTAC AGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCA TGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAG GCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATC ACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCA TGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATC AAAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTTATATATTATC TGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGT TTGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTT >66672_66672_10_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000441310_HIBCH_chr2_191110938_ENST00000359678_length(amino acids)=1019AA_BP=883 MLKAKMKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLE NLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDL LMSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSR PVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSA ADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVS WENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPI PEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKAT KDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNK VDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGS TYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDK INSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSP -------------------------------------------------------------- >66672_66672_11_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000441310_HIBCH_chr2_191110938_ENST00000392332_length(transcript)=4440nt_BP=2867nt AGACTCGCTGCCAGCGGATTGGCTGCGAGCAGCGCCAATCTCACGTTGCCCCCGGGCGAGGCGGGACTCAGTGCCGCGCTCTCTGCACCC GCTCTGCCGCGCGCGTGCGTGCTGGGTGCGGGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTG GATGGTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTT CAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTA AACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGT ACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTA TAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGA AACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAA AAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATA ACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGG AATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTT CAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGA AATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAG ATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTA CAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAG TGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACA CTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTA AGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTA AGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAA TTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAA GTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAA TAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTC AAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGA GTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGT CACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTAT CTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTA TGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTC CTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTG AGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTAT ATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGA TACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAA TTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATC GAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTAC AGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCA TGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGTTTTAATTGATAAAGACCAGAG TCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATT TTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTAT ATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTATCAG AATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAG ATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAATGT GAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAATCAACTTAGGTATA CAATATAAAAAATAAAGACCCTGAAAATTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTTGTTTTGGATACTGTGTTAATGCCTC ATAGAATTTTCTCCATATATGAGTGTGTTTTAAAGTAACTGAGTTACTGTAGCAGAAGAGCTCCTTTTATAAACATTAGAAACCTTGGGC AGAGAGAAAAGATTTTTATTAACGTCCCTCTTCAGTATTAACTCAGACTTGGTCTTCCCTAAAATAATCAGAATACCATCCCATGGTGAA ACTGAAAGGATTATTTTCTTGTTATTTGTGATATTTGTTAATCTGGTAGAATGAGAAATTAGGAAACTCCAATCTCTTAGATAGAGACAC TCTGTTTTTTTATAATTTACGTAAGACTTTTGTGTGATAATTATCCTTACAAACAAGGTTCAAGTCAGGAGAAAAAAATTAATTGAAAGC AAGAAGACTTTTGTTCAAAAGATATATTCAATAATTGATATTGTTAATGAAGTAAGTACTTTTTAAGGTATGAAAGAACTAAAAGGTATT CCAGACTCAGAACCTTAAAGTTCTAGGCAAGAATAATTTTTAAACTAAAGGTAAGTTTATAAATTAACAAAGTAAACAAAATTTATGATT TTGTTTTTTGTTTGTAATTTTTGTTTAATTTTAAAGGTAAGTTTATAAATTAACAAACAAAATTTATAATTTTTTGTTTGTAATTTTTGT >66672_66672_11_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000441310_HIBCH_chr2_191110938_ENST00000392332_length(amino acids)=971AA_BP=883 MLKAKMKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLE NLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDL LMSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSR PVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSA ADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVS WENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPI PEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKAT KDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNK VDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGS TYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDK -------------------------------------------------------------- >66672_66672_12_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000441310_HIBCH_chr2_191110938_ENST00000410045_length(transcript)=3380nt_BP=2867nt AGACTCGCTGCCAGCGGATTGGCTGCGAGCAGCGCCAATCTCACGTTGCCCCCGGGCGAGGCGGGACTCAGTGCCGCGCTCTCTGCACCC GCTCTGCCGCGCGCGTGCGTGCTGGGTGCGGGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTG GATGGTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTT CAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTA AACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGT ACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTA TAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGA AACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAA AAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATA ACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGG AATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTT CAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGA AATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAG ATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTA CAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAG TGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACA CTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTA AGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTA AGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAA TTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAA GTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAA TAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTC AAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGA GTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGT CACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTAT CTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTA TGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTC CTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTG AGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTAT ATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGA TACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAA TTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATC GAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTAC AGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCA TGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAG GCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATC ACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCA >66672_66672_12_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000441310_HIBCH_chr2_191110938_ENST00000410045_length(amino acids)=1019AA_BP=883 MLKAKMKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLE NLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDL LMSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSR PVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSA ADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVS WENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPI PEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKAT KDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNK VDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGS TYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDK INSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSP -------------------------------------------------------------- >66672_66672_13_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000447232_HIBCH_chr2_191110938_ENST00000359678_length(transcript)=3112nt_BP=2218nt GCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGC AACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGC CACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACC TGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTT GGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGG CCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCA GTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAG GATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGC TGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCA CTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCG ACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGA TGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTA TGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGA TGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGA TGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAA CATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTG TTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCT TGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAAT TTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAA CAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGC AAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGA ACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAATCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGA CCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTAC TGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAA CAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACT TGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTT TGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGAC CTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAAT TGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAG CAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCT GCTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGA CGTGAAAATTATCAGAATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGA GTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAG AAGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAA >66672_66672_13_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000447232_HIBCH_chr2_191110938_ENST00000359678_length(amino acids)=857AA_BP=721 MLKAKMKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLE NLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDL LMSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSR PVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSA ADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVS WENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPI PEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLNLFNGSH YLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYL ESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRG -------------------------------------------------------------- >66672_66672_14_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000447232_HIBCH_chr2_191110938_ENST00000392332_length(transcript)=3791nt_BP=2218nt GCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGC AACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGC CACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACC TGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTT GGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGG CCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCA GTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAG GATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGC TGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCA CTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCG ACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGA TGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTA TGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGA TGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGA TGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAA CATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTG TTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCT TGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAAT TTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAA CAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGC AAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGA ACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAATCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGA CCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTAC TGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAA CAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACT TGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTT TGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGAC CTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCT GATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTA AGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAA TGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTT ATTGGAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGC CTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCT CTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAATCAACTTAGGTATACAATATAAAAAATAAAGAC CCTGAAAATTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTCTCCATATA TGAGTGTGTTTTAAAGTAACTGAGTTACTGTAGCAGAAGAGCTCCTTTTATAAACATTAGAAACCTTGGGCAGAGAGAAAAGATTTTTAT TAACGTCCCTCTTCAGTATTAACTCAGACTTGGTCTTCCCTAAAATAATCAGAATACCATCCCATGGTGAAACTGAAAGGATTATTTTCT TGTTATTTGTGATATTTGTTAATCTGGTAGAATGAGAAATTAGGAAACTCCAATCTCTTAGATAGAGACACTCTGTTTTTTTATAATTTA CGTAAGACTTTTGTGTGATAATTATCCTTACAAACAAGGTTCAAGTCAGGAGAAAAAAATTAATTGAAAGCAAGAAGACTTTTGTTCAAA AGATATATTCAATAATTGATATTGTTAATGAAGTAAGTACTTTTTAAGGTATGAAAGAACTAAAAGGTATTCCAGACTCAGAACCTTAAA GTTCTAGGCAAGAATAATTTTTAAACTAAAGGTAAGTTTATAAATTAACAAAGTAAACAAAATTTATGATTTTGTTTTTTGTTTGTAATT TTTGTTTAATTTTAAAGGTAAGTTTATAAATTAACAAACAAAATTTATAATTTTTTGTTTGTAATTTTTGTTTATAAACAAAATAAATTT >66672_66672_14_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000447232_HIBCH_chr2_191110938_ENST00000392332_length(amino acids)=809AA_BP=721 MLKAKMKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLE NLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDL LMSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSR PVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSA ADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVS WENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPI PEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLNLFNGSH YLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYL -------------------------------------------------------------- >66672_66672_15_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000447232_HIBCH_chr2_191110938_ENST00000410045_length(transcript)=2731nt_BP=2218nt GCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGC AACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGC CACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACC TGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTT GGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGG CCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCA GTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAG GATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGC TGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCA CTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCG ACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGA TGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTA TGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGA TGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGA TGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAA CATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTG TTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCT TGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAAT TTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAA CAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGC AAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGA ACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAATCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGA CCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTAC TGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAA CAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACT TGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTT TGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGAC CTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAAT TGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAG CAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCT >66672_66672_15_PMS1-HIBCH_PMS1_chr2_190738382_ENST00000447232_HIBCH_chr2_191110938_ENST00000410045_length(amino acids)=857AA_BP=721 MLKAKMKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLE NLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDL LMSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSR PVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSA ADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVS WENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPI PEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLNLFNGSH YLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYL ESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRG -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for PMS1-HIBCH |
| 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 PMS1-HIBCH |
| 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 PMS1-HIBCH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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