| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51913137_51913152del | CA2695216663 | ACVRL1 | c.142_157del (p.Cys48HisfsTer15) c.100_115del (p.Cys34HisfsTer15) c.103+602_103+617del (n.103+602_103+617del) | |
| 12 | g.51913140A>C | CA384897518 | ACVRL1 | c.145A>C (p.Thr49Pro) c.103A>C (p.Thr35Pro) c.103+605A>C (n.103+605A>C) | |
| 12 | g.51913140A>G | CA384897524 | ACVRL1 | c.145A>G (p.Thr49Ala) c.103A>G (p.Thr35Ala) c.103+605A>G (n.103+605A>G) | gnomAD v4 |
| 12 | g.51913140A>T | CA384897522 | ACVRL1 | c.145A>T (p.Thr49Ser) c.103A>T (p.Thr35Ser) c.103+605A>T (n.103+605A>T) | |
| 12 | g.51913141C>A | CA384897526 | ACVRL1 | c.146C>A (p.Thr49Lys) c.104C>A (p.Thr35Lys) c.103+606C>A (n.103+606C>A) | gnomAD v4 COSMIC |
| 12 | g.51913141C= | CA2036266921 | ACVRL1 | c.146C= (p.Thr49=) c.104C= (p.Thr35=) c.103+606C= (n.103+606C=) | |
| 12 | g.51913141C>G | CA384897528 | ACVRL1 | c.146C>G (p.Thr49Arg) c.104C>G (p.Thr35Arg) c.103+606C>G (n.103+606C>G) | |
| 12 | g.51913141C>T | CA6572815 | ACVRL1 | c.146C>T (p.Thr49Met) c.104C>T (p.Thr35Met) c.103+606C>T (n.103+606C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913141_51913142delinsCG | CA2036266922 | ACVRL1 | c.146_147delinsCG (p.Thr49=) c.104_105delinsCG (p.Thr35=) c.103+606_103+607delinsCG (n.103+606_103+607delinsCG) | |
| 12 | g.51913142del | CA658683789 | ACVRL1 | c.147del (p.Cys50ValfsTer18) c.105del (p.Cys36ValfsTer18) c.103+607del (n.103+607del) | ClinVar dbSNP |
| 12 | g.51913142G>A | CA6572816 | ACVRL1 | c.147G>A (p.Thr49=) c.105G>A (p.Thr35=) c.103+607G>A (n.103+607G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913142G>C | CA480063053 | ACVRL1 | c.147G>C (p.Thr49=) c.105G>C (p.Thr35=) c.103+607G>C (n.103+607G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913142G= | CA2036266924 | ACVRL1 | c.147G= (p.Thr49=) c.105G= (p.Thr35=) c.103+607G= (n.103+607G=) | |
| 12 | g.51913142G>T | CA480063054 | ACVRL1 | c.147G>T (p.Thr49=) c.105G>T (p.Thr35=) c.103+607G>T (n.103+607G>T) | |
| 12 | g.51913143T>A | CA384897532 | ACVRL1 | c.148T>A (p.Cys50Ser) c.106T>A (p.Cys36Ser) c.103+608T>A (n.103+608T>A) | |
| 12 | g.51913143T>C | CA384897534 | ACVRL1 | c.148T>C (p.Cys50Arg) c.106T>C (p.Cys36Arg) c.103+608T>C (n.103+608T>C) | ClinVar dbSNP |
| 12 | g.51913143T>G | CA384897536 | ACVRL1 | c.148T>G (p.Cys50Gly) c.106T>G (p.Cys36Gly) c.103+608T>G (n.103+608T>G) | |
| 12 | g.51913144G>A | CA384897542 | ACVRL1 | c.149G>A (p.Cys50Tyr) c.107G>A (p.Cys36Tyr) c.103+609G>A (n.103+609G>A) | ClinVar gnomAD v4 COSMIC COSMIC |
| 12 | g.51913144G>C | CA384897539 | ACVRL1 | c.149G>C (p.Cys50Ser) c.107G>C (p.Cys36Ser) c.103+609G>C (n.103+609G>C) | |
| 12 | g.51913144G>T | CA384897540 | ACVRL1 | c.149G>T (p.Cys50Phe) c.107G>T (p.Cys36Phe) c.103+609G>T (n.103+609G>T) | gnomAD v4 |
| 12 | g.51913145T>A | CA384897544 | ACVRL1 | c.150T>A (p.Cys50Ter) c.108T>A (p.Cys36Ter) c.103+610T>A (n.103+610T>A) | |
| 12 | g.51913145T>C | CA480063058 | ACVRL1 | c.150T>C (p.Cys50=) c.108T>C (p.Cys36=) c.103+610T>C (n.103+610T>C) | |
| 12 | g.51913145T>G | CA384897546 | ACVRL1 | c.150T>G (p.Cys50Trp) c.108T>G (p.Cys36Trp) c.103+610T>G (n.103+610T>G) | |
| 12 | g.51913146G>A | CA384897549 | ACVRL1 | c.151G>A (p.Glu51Lys) c.109G>A (p.Glu37Lys) c.103+611G>A (n.103+611G>A) | |
| 12 | g.51913146G>C | CA384897550 | ACVRL1 | c.151G>C (p.Glu51Gln) c.109G>C (p.Glu37Gln) c.103+611G>C (n.103+611G>C) | |
| 12 | g.51913146G>T | CA384897552 | ACVRL1 | c.151G>T (p.Glu51Ter) c.109G>T (p.Glu37Ter) c.103+611G>T (n.103+611G>T) | |
| 12 | g.51913147A>C | CA384897554 | ACVRL1 | c.152A>C (p.Glu51Ala) c.110A>C (p.Glu37Ala) c.103+612A>C (n.103+612A>C) | |
| 12 | g.51913147A>G | CA384897556 | ACVRL1 | c.152A>G (p.Glu51Gly) c.110A>G (p.Glu37Gly) c.103+612A>G (n.103+612A>G) | |
| 12 | g.51913147A>T | CA384897555 | ACVRL1 | c.152A>T (p.Glu51Val) c.110A>T (p.Glu37Val) c.103+612A>T (n.103+612A>T) | |
| 12 | g.51913148G>A | CA6572817 | ACVRL1 | c.153G>A (p.Glu51=) c.111G>A (p.Glu37=) c.103+613G>A (n.103+613G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51913148G>C | CA384897557 | ACVRL1 | c.153G>C (p.Glu51Asp) c.111G>C (p.Glu37Asp) c.103+613G>C (n.103+613G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913148G= | CA2036266926 | ACVRL1 | c.153G= (p.Glu51=) c.111G= (p.Glu37=) c.103+613G= (n.103+613G=) | |
| 12 | g.51913148G>T | CA384897558 | ACVRL1 | c.153G>T (p.Glu51Asp) c.111G>T (p.Glu37Asp) c.103+613G>T (n.103+613G>T) | |
| 12 | g.51913149A>C | CA384897559 | ACVRL1 | c.154A>C (p.Ser52Arg) c.112A>C (p.Ser38Arg) c.103+614A>C (n.103+614A>C) | |
| 12 | g.51913149A>G | CA384897560 | ACVRL1 | c.154A>G (p.Ser52Gly) c.112A>G (p.Ser38Gly) c.103+614A>G (n.103+614A>G) | |
| 12 | g.51913149A>T | CA384897561 | ACVRL1 | c.154A>T (p.Ser52Cys) c.112A>T (p.Ser38Cys) c.103+614A>T (n.103+614A>T) | ClinVar |
| 12 | g.51913150G>A | CA384897562 | ACVRL1 | c.155G>A (p.Ser52Asn) c.113G>A (p.Ser38Asn) c.103+615G>A (n.103+615G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913150G>C | CA384897563 | ACVRL1 | c.155G>C (p.Ser52Thr) c.113G>C (p.Ser38Thr) c.103+615G>C (n.103+615G>C) | |
| 12 | g.51913150G= | CA2036266927 | ACVRL1 | c.155G= (p.Ser52=) c.113G= (p.Ser38=) c.103+615G= (n.103+615G=) | |
| 12 | g.51913150G>T | CA384897565 | ACVRL1 | c.155G>T (p.Ser52Ile) c.113G>T (p.Ser38Ile) c.103+615G>T (n.103+615G>T) | gnomAD v4 |
| 12 | g.51913151C>A | CA384897568 | ACVRL1 | c.156C>A (p.Ser52Arg) c.114C>A (p.Ser38Arg) c.103+616C>A (n.103+616C>A) | gnomAD v4 |
| 12 | g.51913151C>G | CA384897569 | ACVRL1 | c.156C>G (p.Ser52Arg) c.114C>G (p.Ser38Arg) c.103+616C>G (n.103+616C>G) | |
| 12 | g.51913151C>T | CA480063062 | ACVRL1 | c.156C>T (p.Ser52=) c.114C>T (p.Ser38=) c.103+616C>T (n.103+616C>T) | gnomAD v4 |
| 12 | g.51913152_51913153del | CA2499221743 | ACVRL1 | c.157_158del (p.Pro53ThrfsTer?) c.115_116del (p.Pro39ThrfsTer?) c.103+617_103+618del (n.103+617_103+618del) | ClinVar dbSNP |
| 12 | g.51913152_51913155dup | CA2695216664 | ACVRL1 | c.157_160dup (p.His54ProfsTer?) c.115_118dup (p.His40ProfsTer?) c.103+617_103+620dup (n.103+617_103+620dup) | |
| 12 | g.51913152C>A | CA384897571 | ACVRL1 | c.157C>A (p.Pro53Thr) c.115C>A (p.Pro39Thr) c.103+617C>A (n.103+617C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913152C= | CA2036266930 | ACVRL1 | c.157C= (p.Pro53=) c.115C= (p.Pro39=) c.103+617C= (n.103+617C=) | |
| 12 | g.51913152C>G | CA384897575 | ACVRL1 | c.157C>G (p.Pro53Ala) c.115C>G (p.Pro39Ala) c.103+617C>G (n.103+617C>G) | |
| 12 | g.51913152C>T | CA384897573 | ACVRL1 | c.157C>T (p.Pro53Ser) c.115C>T (p.Pro39Ser) c.103+617C>T (n.103+617C>T) | gnomAD v4 |
| 12 | g.51913153C>A | CA384897577 | ACVRL1 | c.158C>A (p.Pro53Gln) c.116C>A (p.Pro39Gln) c.103+618C>A (n.103+618C>A) |