UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51913108_51913130del | CA2580086423 | ACVRL1 | c.113_135del (p.Val38GlyfsTer6) c.71_93del (p.Val24GlyfsTer6) c.103+573_103+595del (n.103+573_103+595del) | ClinVar |
| 12 | g.51913127_51913139del | CA2695216662 | ACVRL1 | c.132_144del (p.Leu45ArgfsTer19) c.90_102del (p.Leu31ArgfsTer19) c.103+592_103+604del (n.103+592_103+604del) | |
| 12 | g.51913129T>A | CA384897476 | ACVRL1 | c.134T>A (p.Leu45Gln) c.92T>A (p.Leu31Gln) c.103+594T>A (n.103+594T>A) | |
| 12 | g.51913129T>C | CA6572814 | ACVRL1 | c.134T>C (p.Leu45Pro) c.92T>C (p.Leu31Pro) c.103+594T>C (n.103+594T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51913129T>G | CA384897478 | ACVRL1 | c.134T>G (p.Leu45Arg) c.92T>G (p.Leu31Arg) c.103+594T>G (n.103+594T>G) | |
| 12 | g.51913129T= | CA2036266902 | ACVRL1 | c.134T= (p.Leu45=) c.92T= (p.Leu31=) c.103+594T= (n.103+594T=) | |
| 12 | g.51913130G>A | CA480063032 | ACVRL1 | c.135G>A (p.Leu45=) c.93G>A (p.Leu31=) c.103+595G>A (n.103+595G>A) | gnomAD v4 |
| 12 | g.51913130G>C | CA480063033 | ACVRL1 | c.135G>C (p.Leu45=) c.93G>C (p.Leu31=) c.103+595G>C (n.103+595G>C) | |
| 12 | g.51913130G>T | CA480063034 | ACVRL1 | c.135G>T (p.Leu45=) c.93G>T (p.Leu31=) c.103+595G>T (n.103+595G>T) | |
| 12 | g.51913131G>A | CA384897479 | ACVRL1 | c.136G>A (p.Val46Met) c.94G>A (p.Val32Met) c.103+596G>A (n.103+596G>A) | dbSNP gnomAD v2 |
| 12 | g.51913131G>C | CA384897481 | ACVRL1 | c.136G>C (p.Val46Leu) c.94G>C (p.Val32Leu) c.103+596G>C (n.103+596G>C) | |
| 12 | g.51913131G= | CA2036266904 | ACVRL1 | c.136G= (p.Val46=) c.94G= (p.Val32=) c.103+596G= (n.103+596G=) | |
| 12 | g.51913131G>T | CA384897483 | ACVRL1 | c.136G>T (p.Val46Leu) c.94G>T (p.Val32Leu) c.103+596G>T (n.103+596G>T) | |
| 12 | g.51913132T>A | CA384897490 | ACVRL1 | c.137T>A (p.Val46Glu) c.95T>A (p.Val32Glu) c.103+597T>A (n.103+597T>A) | |
| 12 | g.51913132T>C | CA384897486 | ACVRL1 | c.137T>C (p.Val46Ala) c.95T>C (p.Val32Ala) c.103+597T>C (n.103+597T>C) | |
| 12 | g.51913132T>G | CA384897487 | ACVRL1 | c.137T>G (p.Val46Gly) c.95T>G (p.Val32Gly) c.103+597T>G (n.103+597T>G) | |
| 12 | g.51913133G>A | CA480063037 | ACVRL1 | c.138G>A (p.Val46=) c.96G>A (p.Val32=) c.103+598G>A (n.103+598G>A) | |
| 12 | g.51913133G>C | CA480063038 | ACVRL1 | c.138G>C (p.Val46=) c.96G>C (p.Val32=) c.103+598G>C (n.103+598G>C) | |
| 12 | g.51913133G>T | CA480063039 | ACVRL1 | c.138G>T (p.Val46=) c.96G>T (p.Val32=) c.103+598G>T (n.103+598G>T) | |
| 12 | g.51913134A>C | CA384897492 | ACVRL1 | c.139A>C (p.Thr47Pro) c.97A>C (p.Thr33Pro) c.103+599A>C (n.103+599A>C) | |
| 12 | g.51913134A>G | CA384897494 | ACVRL1 | c.139A>G (p.Thr47Ala) c.97A>G (p.Thr33Ala) c.103+599A>G (n.103+599A>G) | |
| 12 | g.51913134A>T | CA384897495 | ACVRL1 | c.139A>T (p.Thr47Ser) c.97A>T (p.Thr33Ser) c.103+599A>T (n.103+599A>T) | |
| 12 | g.51913135C>A | CA384897497 | ACVRL1 | c.140C>A (p.Thr47Asn) c.98C>A (p.Thr33Asn) c.103+600C>A (n.103+600C>A) | gnomAD v4 |
| 12 | g.51913135C= | CA2036266907 | ACVRL1 | c.140C= (p.Thr47=) c.98C= (p.Thr33=) c.103+600C= (n.103+600C=) | |
| 12 | g.51913135C>G | CA384897499 | ACVRL1 | c.140C>G (p.Thr47Ser) c.98C>G (p.Thr33Ser) c.103+600C>G (n.103+600C>G) | |
| 12 | g.51913135C>T | CA384897501 | ACVRL1 | c.140C>T (p.Thr47Ile) c.98C>T (p.Thr33Ile) c.103+600C>T (n.103+600C>T) | dbSNP gnomAD v4 |
| 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.51913136C>A | CA480063045 | ACVRL1 | c.141C>A (p.Thr47=) c.99C>A (p.Thr33=) c.103+601C>A (n.103+601C>A) | gnomAD v4 |
| 12 | g.51913136C= | CA2036266910 | ACVRL1 | c.141C= (p.Thr47=) c.99C= (p.Thr33=) c.103+601C= (n.103+601C=) | |
| 12 | g.51913136C>G | CA480063047 | ACVRL1 | c.141C>G (p.Thr47=) c.99C>G (p.Thr33=) c.103+601C>G (n.103+601C>G) | ClinVar |
| 12 | g.51913136C>T | CA480063048 | ACVRL1 | c.141C>T (p.Thr47=) c.99C>T (p.Thr33=) c.103+601C>T (n.103+601C>T) | |
| 12 | g.51913137T>A | CA384897503 | ACVRL1 | c.142T>A (p.Cys48Ser) c.100T>A (p.Cys34Ser) c.103+602T>A (n.103+602T>A) | ClinVar |
| 12 | g.51913137T>C | CA384897505 | ACVRL1 | c.142T>C (p.Cys48Arg) c.100T>C (p.Cys34Arg) c.103+602T>C (n.103+602T>C) | ClinVar gnomAD v4 |
| 12 | g.51913137T>G | CA384897507 | ACVRL1 | c.142T>G (p.Cys48Gly) c.100T>G (p.Cys34Gly) c.103+602T>G (n.103+602T>G) | |
| 12 | g.51913137dup | CA658653654 | ACVRL1 | c.142dup (p.Cys48LeufsTer4) c.100dup (p.Cys34LeufsTer4) c.103+602dup (n.103+602dup) | ClinVar dbSNP |
| 12 | g.51913138G>A | CA384897509 | ACVRL1 | c.143G>A (p.Cys48Tyr) c.101G>A (p.Cys34Tyr) c.103+603G>A (n.103+603G>A) | ClinVar |
| 12 | g.51913138G>C | CA384897510 | ACVRL1 | c.143G>C (p.Cys48Ser) c.101G>C (p.Cys34Ser) c.103+603G>C (n.103+603G>C) | |
| 12 | g.51913138G>T | CA384897512 | ACVRL1 | c.143G>T (p.Cys48Phe) c.101G>T (p.Cys34Phe) c.103+603G>T (n.103+603G>T) | gnomAD v4 |
| 12 | g.51913139C>A | CA384897514 | ACVRL1 | c.144C>A (p.Cys48Ter) c.102C>A (p.Cys34Ter) c.103+604C>A (n.103+604C>A) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51913139C= | CA2036266917 | ACVRL1 | c.144C= (p.Cys48=) c.102C= (p.Cys34=) c.103+604C= (n.103+604C=) | |
| 12 | g.51913139C>G | CA384897515 | ACVRL1 | c.144C>G (p.Cys48Trp) c.102C>G (p.Cys34Trp) c.103+604C>G (n.103+604C>G) | dbSNP gnomAD v2 |
| 12 | g.51913139C>T | CA480063049 | ACVRL1 | c.144C>T (p.Cys48=) c.102C>T (p.Cys34=) c.103+604C>T (n.103+604C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) | |
| 12 | g.51913153C= | CA2036266931 | ACVRL1 | c.158C= (p.Pro53=) c.116C= (p.Pro39=) c.103+618C= (n.103+618C=) | |
| 12 | g.51913153C>G | CA384897579 | ACVRL1 | c.158C>G (p.Pro53Arg) c.116C>G (p.Pro39Arg) c.103+618C>G (n.103+618C>G) | gnomAD v4 |
| 12 | g.51913153C>T | CA384897581 | ACVRL1 | c.158C>T (p.Pro53Leu) c.116C>T (p.Pro39Leu) c.103+618C>T (n.103+618C>T) | dbSNP gnomAD v2 |
| 12 | g.51913154A>C | CA480063066 | ACVRL1 | c.159A>C (p.Pro53=) c.117A>C (p.Pro39=) c.103+619A>C (n.103+619A>C) | |
| 12 | g.51913154A>G | CA480063068 | ACVRL1 | c.159A>G (p.Pro53=) c.117A>G (p.Pro39=) c.103+619A>G (n.103+619A>G) | |
| 12 | g.51913154A>T | CA480063067 | ACVRL1 | c.159A>T (p.Pro53=) c.117A>T (p.Pro39=) c.103+619A>T (n.103+619A>T) | |
| 12 | g.51913155C>A | CA384897582 | ACVRL1 | c.160C>A (p.His54Asn) c.118C>A (p.His40Asn) c.103+620C>A (n.103+620C>A) | |
| 12 | g.51913155C>G | CA384897584 | ACVRL1 | c.160C>G (p.His54Asp) c.118C>G (p.His40Asp) c.103+620C>G (n.103+620C>G) | |
| 12 | g.51913155C>T | CA384897586 | ACVRL1 | c.160C>T (p.His54Tyr) c.118C>T (p.His40Tyr) c.103+620C>T (n.103+620C>T) | gnomAD v4 |
| 12 | g.51913156A= | CA2036266933 | ACVRL1 | c.161A= (p.His54=) c.119A= (p.His40=) c.103+621A= (n.103+621A=) | |
| 12 | g.51913156A>C | CA384897588 | ACVRL1 | c.161A>C (p.His54Pro) c.119A>C (p.His40Pro) c.103+621A>C (n.103+621A>C) | |
| 12 | g.51913156A>G | CA384897590 | ACVRL1 | c.161A>G (p.His54Arg) c.119A>G (p.His40Arg) c.103+621A>G (n.103+621A>G) | |
| 12 | g.51913156A>T | CA384897594 | ACVRL1 | c.161A>T (p.His54Leu) c.119A>T (p.His40Leu) c.103+621A>T (n.103+621A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913157T>A | CA384897596 | ACVRL1 | c.162T>A (p.His54Gln) c.120T>A (p.His40Gln) c.103+622T>A (n.103+622T>A) | |
| 12 | g.51913157T>C | CA6572818 | ACVRL1 | c.162T>C (p.His54=) c.120T>C (p.His40=) c.103+622T>C (n.103+622T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913157T>G | CA384897599 | ACVRL1 | c.162T>G (p.His54Gln) c.120T>G (p.His40Gln) c.103+622T>G (n.103+622T>G) | |
| 12 | g.51913157T= | CA2036266934 | ACVRL1 | c.162T= (p.His54=) c.120T= (p.His40=) c.103+622T= (n.103+622T=) | |
| 12 | g.51913158T>A | CA384897603 | ACVRL1 | c.163T>A (p.Cys55Ser) c.121T>A (p.Cys41Ser) c.103+623T>A (n.103+623T>A) | |
| 12 | g.51913158T>C | CA384897601 | ACVRL1 | c.163T>C (p.Cys55Arg) c.121T>C (p.Cys41Arg) c.103+623T>C (n.103+623T>C) | COSMIC COSMIC |
| 12 | g.51913158T>G | CA384897602 | ACVRL1 | c.163T>G (p.Cys55Gly) c.121T>G (p.Cys41Gly) c.103+623T>G (n.103+623T>G) | ClinVar dbSNP |
| 12 | g.51913161_51913175del | CA2573148772 | ACVRL1 | c.166_180del (p.Lys56_Cys60del) c.124_138del (p.Lys42_Cys46del) c.103+626_103+640del (n.103+626_103+640del) | ClinVar dbSNP |
| 12 | g.51913159G>A | CA384897604 | ACVRL1 | c.164G>A (p.Cys55Tyr) c.122G>A (p.Cys41Tyr) c.103+624G>A (n.103+624G>A) | ClinVar dbSNP gnomAD v2 |
| 12 | g.51913159G>C | CA384897606 | ACVRL1 | c.164G>C (p.Cys55Ser) c.122G>C (p.Cys41Ser) c.103+624G>C (n.103+624G>C) | |
| 12 | g.51913159G= | CA2036266937 | ACVRL1 | c.164G= (p.Cys55=) c.122G= (p.Cys41=) c.103+624G= (n.103+624G=) | |
| 12 | g.51913159G>T | CA384897608 | ACVRL1 | c.164G>T (p.Cys55Phe) c.122G>T (p.Cys41Phe) c.103+624G>T (n.103+624G>T) | gnomAD v4 |
| 12 | g.51913160C>A | CA384897609 | ACVRL1 | c.165C>A (p.Cys55Ter) c.123C>A (p.Cys41Ter) c.103+625C>A (n.103+625C>A) | gnomAD v4 |
| 12 | g.51913160C>G | CA384897610 | ACVRL1 | c.165C>G (p.Cys55Trp) c.123C>G (p.Cys41Trp) c.103+625C>G (n.103+625C>G) | |
| 12 | g.51913160C>T | CA480063075 | ACVRL1 | c.165C>T (p.Cys55=) c.123C>T (p.Cys41=) c.103+625C>T (n.103+625C>T) | |
| 12 | g.51913161A= | CA2036266941 | ACVRL1 | c.166A= (p.Lys56=) c.124A= (p.Lys42=) c.103+626A= (n.103+626A=) | |
| 12 | g.51913161A>C | CA384897613 | ACVRL1 | c.166A>C (p.Lys56Gln) c.124A>C (p.Lys42Gln) c.103+626A>C (n.103+626A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913161A>G | CA384897615 | ACVRL1 | c.166A>G (p.Lys56Glu) c.124A>G (p.Lys42Glu) c.103+626A>G (n.103+626A>G) | |
| 12 | g.51913161A>T | CA384897618 | ACVRL1 | c.166A>T (p.Lys56Ter) c.124A>T (p.Lys42Ter) c.103+626A>T (n.103+626A>T) | |
| 12 | g.51913162A= | CA2036266943 | ACVRL1 | c.167A= (p.Lys56=) c.125A= (p.Lys42=) c.103+627A= (n.103+627A=) | |
| 12 | g.51913162A>C | CA384897621 | ACVRL1 | c.167A>C (p.Lys56Thr) c.125A>C (p.Lys42Thr) c.103+627A>C (n.103+627A>C) | |
| 12 | g.51913162A>G | CA384897623 | ACVRL1 | c.167A>G (p.Lys56Arg) c.125A>G (p.Lys42Arg) c.103+627A>G (n.103+627A>G) | |
| 12 | g.51913162A>T | CA384897624 | ACVRL1 | c.167A>T (p.Lys56Met) c.125A>T (p.Lys42Met) c.103+627A>T (n.103+627A>T) | gnomAD v4 |
| 12 | g.51913163G>A | CA480063079 | ACVRL1 | c.168G>A (p.Lys56=) c.126G>A (p.Lys42=) c.103+628G>A (n.103+628G>A) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51913163G>C | CA384897627 | ACVRL1 | c.168G>C (p.Lys56Asn) c.126G>C (p.Lys42Asn) c.103+628G>C (n.103+628G>C) | |
| 12 | g.51913163G>T | CA384897625 | ACVRL1 | c.168G>T (p.Lys56Asn) c.126G>T (p.Lys42Asn) c.103+628G>T (n.103+628G>T) | gnomAD v4 |
| 12 | g.51913166dup | CA1139662693 | ACVRL1 | c.171dup (p.Pro58AlafsTer?) c.129dup (p.Pro44AlafsTer?) c.103+631dup (n.103+631dup) | ClinVar dbSNP |
| 12 | g.51913167_51913180del | CA2573148773 | ACVRL1 | c.172_185del (p.Pro58GlyfsTer?) c.130_143del (p.Pro44GlyfsTer?) c.103+632_103+645del (n.103+632_103+645del) | ClinVar dbSNP |
| 12 | g.51913170_51913185del | CA2580086428 | ACVRL1 | c.175_190del (p.Thr59GlyfsTer4) c.133_148del (p.Thr45GlyfsTer4) c.103+635_103+650del (n.103+635_103+650del) | ClinVar |
| 12 | g.51913164G>A | CA6572819 | ACVRL1 | c.169G>A (p.Gly57Arg) c.127G>A (p.Gly43Arg) c.103+629G>A (n.103+629G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913164G>C | CA384897630 | ACVRL1 | c.169G>C (p.Gly57Arg) c.127G>C (p.Gly43Arg) c.103+629G>C (n.103+629G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51913164G= | CA2036266953 | ACVRL1 | c.169G= (p.Gly57=) c.127G= (p.Gly43=) c.103+629G= (n.103+629G=) | |
| 12 | g.51913164G>T | CA384897632 | ACVRL1 | c.169G>T (p.Gly57Trp) c.127G>T (p.Gly43Trp) c.103+629G>T (n.103+629G>T) | gnomAD v4 |
| 12 | g.51913165G>A | CA384897634 | ACVRL1 | c.170G>A (p.Gly57Glu) c.128G>A (p.Gly43Glu) c.103+630G>A (n.103+630G>A) | |
| 12 | g.51913165G>C | CA384897635 | ACVRL1 | c.170G>C (p.Gly57Ala) c.128G>C (p.Gly43Ala) c.103+630G>C (n.103+630G>C) | |
| 12 | g.51913165G= | CA2036266954 | ACVRL1 | c.170G= (p.Gly57=) c.128G= (p.Gly43=) c.103+630G= (n.103+630G=) | |
| 12 | g.51913165G>T | CA384897636 | ACVRL1 | c.170G>T (p.Gly57Val) c.128G>T (p.Gly43Val) c.103+630G>T (n.103+630G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51913165_51913169del | CA2580086429 | ACVRL1 | c.170_174del (p.Gly57AspfsTer?) c.128_132del (p.Gly43AspfsTer?) c.103+630_103+634del (n.103+630_103+634del) | ClinVar |
| 12 | g.51913166G>A | CA480063085 | ACVRL1 | c.171G>A (p.Gly57=) c.129G>A (p.Gly43=) c.103+631G>A (n.103+631G>A) | gnomAD v4 |
| 12 | g.51913166G>C | CA480063086 | ACVRL1 | c.171G>C (p.Gly57=) c.129G>C (p.Gly43=) c.103+631G>C (n.103+631G>C) | |
| 12 | g.51913166G>T | CA480063087 | ACVRL1 | c.171G>T (p.Gly57=) c.129G>T (p.Gly43=) c.103+631G>T (n.103+631G>T) | gnomAD v4 |
| 12 | g.51913167C>A | CA384897639 | ACVRL1 | c.172C>A (p.Pro58Thr) c.130C>A (p.Pro44Thr) c.103+632C>A (n.103+632C>A) | gnomAD v4 |
| 12 | g.51913167C= | CA2036266956 | ACVRL1 | c.172C= (p.Pro58=) c.130C= (p.Pro44=) c.103+632C= (n.103+632C=) | |
| 12 | g.51913167C>G | CA384897638 | ACVRL1 | c.172C>G (p.Pro58Ala) c.130C>G (p.Pro44Ala) c.103+632C>G (n.103+632C>G) | |
| 12 | g.51913167C>T | CA6572820 | ACVRL1 | c.172C>T (p.Pro58Ser) c.130C>T (p.Pro44Ser) c.103+632C>T (n.103+632C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51913167_51913183delinsTGCACAGTAGTG | CA2580086430 | ACVRL1 | c.172_188delinsTGCACAGTAGTG (p.Pro58CysfsTer?) c.130_146delinsTGCACAGTAGTG (p.Pro44CysfsTer?) c.103+632_103+648delinsTGCACAGTAGTG (n.103+632_103+648delinsTGCACAGTAGTG) | ClinVar |
| 12 | g.51913168C>A | CA384897641 | ACVRL1 | c.173C>A (p.Pro58His) c.131C>A (p.Pro44His) c.103+633C>A (n.103+633C>A) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51913168C= | CA2036266960 | ACVRL1 | c.173C= (p.Pro58=) c.131C= (p.Pro44=) c.103+633C= (n.103+633C=) | |
| 12 | g.51913168C>G | CA384897643 | ACVRL1 | c.173C>G (p.Pro58Arg) c.131C>G (p.Pro44Arg) c.103+633C>G (n.103+633C>G) | |
| 12 | g.51913168C>T | CA384897645 | ACVRL1 | c.173C>T (p.Pro58Leu) c.131C>T (p.Pro44Leu) c.103+633C>T (n.103+633C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51913168_51913169insCACA | CA2499221744 | ACVRL1 | c.173_174insCACA (p.Cys60TyrfsTer?) c.131_132insCACA (p.Cys46TyrfsTer?) c.103+633_103+634insCACA (n.103+633_103+634insCACA) | ClinVar dbSNP |
| 12 | g.51913169T>A | CA480063090 | ACVRL1 | c.174T>A (p.Pro58=) c.132T>A (p.Pro44=) c.103+634T>A (n.103+634T>A) | |
| 12 | g.51913169T>C | CA480063091 | ACVRL1 | c.174T>C (p.Pro58=) c.132T>C (p.Pro44=) c.103+634T>C (n.103+634T>C) | gnomAD v4 |
| 12 | g.51913169T>G | CA480063089 | ACVRL1 | c.174T>G (p.Pro58=) c.132T>G (p.Pro44=) c.103+634T>G (n.103+634T>G) | |
| 12 | g.51913169delinsCACATTGCAAGGTGCAAGGGTGC | CA2580086432 | ACVRL1 | c.174delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys60LeufsTer?) c.132delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys46LeufsTer?) c.103+634delinsCACATTGCAAGGTGCAAGGGTGC (n.103+634delinsCACATTGCAAGGTGCAAGGGTGC) | ClinVar |
| 12 | g.51913170A>C | CA384897648 | ACVRL1 | c.175A>C (p.Thr59Pro) c.133A>C (p.Thr45Pro) c.103+635A>C (n.103+635A>C) | |
| 12 | g.51913170A>G | CA384897650 | ACVRL1 | c.175A>G (p.Thr59Ala) c.133A>G (p.Thr45Ala) c.103+635A>G (n.103+635A>G) | |
| 12 | g.51913170A>T | CA384897651 | ACVRL1 | c.175A>T (p.Thr59Ser) c.133A>T (p.Thr45Ser) c.103+635A>T (n.103+635A>T) | |
| 12 | g.51913171C>A | CA384897655 | ACVRL1 | c.176C>A (p.Thr59Asn) c.134C>A (p.Thr45Asn) c.103+636C>A (n.103+636C>A) | COSMIC COSMIC |
| 12 | g.51913171C= | CA2036266961 | ACVRL1 | c.176C= (p.Thr59=) c.134C= (p.Thr45=) c.103+636C= (n.103+636C=) | |
| 12 | g.51913171C>G | CA384897653 | ACVRL1 | c.176C>G (p.Thr59Ser) c.134C>G (p.Thr45Ser) c.103+636C>G (n.103+636C>G) | |
| 12 | g.51913171C>T | CA6572821 | ACVRL1 | c.176C>T (p.Thr59Ile) c.134C>T (p.Thr45Ile) c.103+636C>T (n.103+636C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51913172C>A | CA480063092 | ACVRL1 | c.177C>A (p.Thr59=) c.135C>A (p.Thr45=) c.103+637C>A (n.103+637C>A) | |
| 12 | g.51913172C>G | CA480063093 | ACVRL1 | c.177C>G (p.Thr59=) c.135C>G (p.Thr45=) c.103+637C>G (n.103+637C>G) | |
| 12 | g.51913172C>T | CA480063095 | ACVRL1 | c.177C>T (p.Thr59=) c.135C>T (p.Thr45=) c.103+637C>T (n.103+637C>T) | |
| 12 | g.51913173T>A | CA384897657 | ACVRL1 | c.178T>A (p.Cys60Ser) c.136T>A (p.Cys46Ser) c.103+638T>A (n.103+638T>A) | |
| 12 | g.51913173T>C | CA384897660 | ACVRL1 | c.178T>C (p.Cys60Arg) c.136T>C (p.Cys46Arg) c.103+638T>C (n.103+638T>C) | |
| 12 | g.51913173T>G | CA384897661 | ACVRL1 | c.178T>G (p.Cys60Gly) c.136T>G (p.Cys46Gly) c.103+638T>G (n.103+638T>G) | |
| 12 | g.51913173_51913174delinsCT | CA2695216665 | ACVRL1 | c.178_179delinsCT (p.Cys60Leu) c.136_137delinsCT (p.Cys46Leu) c.103+638_103+639delinsCT (n.103+638_103+639delinsCT) | |
| 12 | g.51913174G>A | CA384897662 | ACVRL1 | c.179G>A (p.Cys60Tyr) c.137G>A (p.Cys46Tyr) c.103+639G>A (n.103+639G>A) | |
| 12 | g.51913174G>C | CA384897664 | ACVRL1 | c.179G>C (p.Cys60Ser) c.137G>C (p.Cys46Ser) c.103+639G>C (n.103+639G>C) | ClinVar dbSNP |
| 12 | g.51913174G= | CA2036266964 | ACVRL1 | c.179G= (p.Cys60=) c.137G= (p.Cys46=) c.103+639G= (n.103+639G=) | |
| 12 | g.51913174G>T | CA384897666 | ACVRL1 | c.179G>T (p.Cys60Phe) c.137G>T (p.Cys46Phe) c.103+639G>T (n.103+639G>T) | gnomAD v4 |
| 12 | g.51913175C>A | CA384897668 | ACVRL1 | c.180C>A (p.Cys60Ter) c.138C>A (p.Cys46Ter) c.103+640C>A (n.103+640C>A) | |
| 12 | g.51913175C>G | CA384897670 | ACVRL1 | c.180C>G (p.Cys60Trp) c.138C>G (p.Cys46Trp) c.103+640C>G (n.103+640C>G) | |
| 12 | g.51913175C>T | CA480063098 | ACVRL1 | c.180C>T (p.Cys60=) c.138C>T (p.Cys46=) c.103+640C>T (n.103+640C>T) | |
| 12 | g.51913176dup | CA1139662694 | ACVRL1 | c.181dup (p.Arg61ProfsTer?) c.139dup (p.Arg47ProfsTer?) c.103+641dup (n.103+641dup) | ClinVar dbSNP |
| 12 | g.51913176C>A | CA480063099 | ACVRL1 | c.181C>A (p.Arg61=) c.139C>A (p.Arg47=) c.103+641C>A (n.103+641C>A) | gnomAD v4 |
| 12 | g.51913176C= | CA2036266969 | ACVRL1 | c.181C= (p.Arg61=) c.139C= (p.Arg47=) c.103+641C= (n.103+641C=) | |
| 12 | g.51913176C>G | CA384897671 | ACVRL1 | c.181C>G (p.Arg61Gly) c.139C>G (p.Arg47Gly) c.103+641C>G (n.103+641C>G) | dbSNP |
| 12 | g.51913176C>T | CA6572822 | ACVRL1 | c.181C>T (p.Arg61Trp) c.139C>T (p.Arg47Trp) c.103+641C>T (n.103+641C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51913176_51913177delinsCG | CA2036266970 | ACVRL1 | c.181_182delinsCG (p.Arg61=) c.139_140delinsCG (p.Arg47=) c.103+641_103+642delinsCG (n.103+641_103+642delinsCG) | |
| 12 | g.51913176_51913177insCG | CA658797915 | ACVRL1 | c.181_182insCG (p.Arg61ProfsTer8) c.139_140insCG (p.Arg47ProfsTer8) c.103+641_103+642insCG (n.103+641_103+642insCG) | ClinVar dbSNP |
| 12 | g.51913177G>A | CA6572823 | ACVRL1 | c.182G>A (p.Arg61Gln) c.140G>A (p.Arg47Gln) c.103+642G>A (n.103+642G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.51913177G>C | CA16607361 | ACVRL1 | c.182G>C (p.Arg61Pro) c.140G>C (p.Arg47Pro) c.103+642G>C (n.103+642G>C) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51913177G= | CA2036266983 | ACVRL1 | c.182G= (p.Arg61=) c.140G= (p.Arg47=) c.103+642G= (n.103+642G=) | |
| 12 | g.51913177G>T | CA384897675 | ACVRL1 | c.182G>T (p.Arg61Leu) c.140G>T (p.Arg47Leu) c.103+642G>T (n.103+642G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913182dup | CA319771 | ACVRL1 | c.187dup (p.Ala63GlyfsTer?) c.145dup (p.Ala49GlyfsTer?) c.103+647dup (n.103+647dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913182del | CA891843493 | ACVRL1 | c.187del (p.Ala63ProfsTer5) c.145del (p.Ala49ProfsTer5) c.103+647del (n.103+647del) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51913178G>A | CA480063101 | ACVRL1 | c.183G>A (p.Arg61=) c.141G>A (p.Arg47=) c.103+643G>A (n.103+643G>A) | gnomAD v4 |
| 12 | g.51913178G>C | CA480063102 | ACVRL1 | c.183G>C (p.Arg61=) c.141G>C (p.Arg47=) c.103+643G>C (n.103+643G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913178G= | CA2036266987 | ACVRL1 | c.183G= (p.Arg61=) c.141G= (p.Arg47=) c.103+643G= (n.103+643G=) | |
| 12 | g.51913178G>T | CA480063103 | ACVRL1 | c.183G>T (p.Arg61=) c.141G>T (p.Arg47=) c.103+643G>T (n.103+643G>T) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51913179G>A | CA384897677 | ACVRL1 | c.184G>A (p.Gly62Arg) c.142G>A (p.Gly48Arg) c.103+644G>A (n.103+644G>A) | ClinVar dbSNP |
| 12 | g.51913179G>C | CA384897681 | ACVRL1 | c.184G>C (p.Gly62Arg) c.142G>C (p.Gly48Arg) c.103+644G>C (n.103+644G>C) | |
| 12 | g.51913179G>T | CA384897679 | ACVRL1 | c.184G>T (p.Gly62Trp) c.142G>T (p.Gly48Trp) c.103+644G>T (n.103+644G>T) | |
| 12 | g.51913180G>A | CA270765 | ACVRL1 | c.185G>A (p.Gly62Glu) c.143G>A (p.Gly48Glu) c.103+645G>A (n.103+645G>A) | ClinVar dbSNP |
| 12 | g.51913180G>C | CA384897684 | ACVRL1 | c.185G>C (p.Gly62Ala) c.143G>C (p.Gly48Ala) c.103+645G>C (n.103+645G>C) | |
| 12 | g.51913180G= | CA2036266991 | ACVRL1 | c.185G= (p.Gly62=) c.143G= (p.Gly48=) c.103+645G= (n.103+645G=) | |
| 12 | g.51913180G>T | CA384897686 | ACVRL1 | c.185G>T (p.Gly62Val) c.143G>T (p.Gly48Val) c.103+645G>T (n.103+645G>T) | gnomAD v4 |
| 12 | g.51913180_51913184delinsAGCCT | CA254375 | ACVRL1 | c.185_189delinsAGCCT (p.Gly62_Ala63delinsGluPro) c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro) c.103+645_103+649delinsAGCCT (n.103+645_103+649delinsAGCCT) | ClinVar dbSNP |
| 12 | g.51913180_51913184delinsGGGCC | CA2036266993 | ACVRL1 | c.185_189delinsGGGCC (p.Gly62=) c.143_147delinsGGGCC (p.Gly48=) c.103+645_103+649delinsGGGCC (n.103+645_103+649delinsGGGCC) | |
| 12 | g.51913181G>A | CA480063105 | ACVRL1 | c.186G>A (p.Gly62=) c.144G>A (p.Gly48=) c.103+646G>A (n.103+646G>A) | dbSNP gnomAD v2 |
| 12 | g.51913181G>C | CA480063106 | ACVRL1 | c.186G>C (p.Gly62=) c.144G>C (p.Gly48=) c.103+646G>C (n.103+646G>C) | |
| 12 | g.51913181G= | CA2036266998 | ACVRL1 | c.186G= (p.Gly62=) c.144G= (p.Gly48=) c.103+646G= (n.103+646G=) | |
| 12 | g.51913181G>T | CA480063107 | ACVRL1 | c.186G>T (p.Gly62=) c.144G>T (p.Gly48=) c.103+646G>T (n.103+646G>T) | gnomAD v4 |
| 12 | g.51913182G>A | CA6572824 | ACVRL1 | c.187G>A (p.Ala63Thr) c.145G>A (p.Ala49Thr) c.103+647G>A (n.103+647G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913182G>C | CA270762 | ACVRL1 | c.187G>C (p.Ala63Pro) c.145G>C (p.Ala49Pro) c.103+647G>C (n.103+647G>C) | ClinVar dbSNP |
| 12 | g.51913182G= | CA2036267000 | ACVRL1 | c.187G= (p.Ala63=) c.145G= (p.Ala49=) c.103+647G= (n.103+647G=) | |
| 12 | g.51913182G>T | CA384897690 | ACVRL1 | c.187G>T (p.Ala63Ser) c.145G>T (p.Ala49Ser) c.103+647G>T (n.103+647G>T) | gnomAD v4 |
| 12 | g.51913183C>A | CA384897693 | ACVRL1 | c.188C>A (p.Ala63Asp) c.146C>A (p.Ala49Asp) c.103+648C>A (n.103+648C>A) | gnomAD v4 |
| 12 | g.51913183C= | CA2036267003 | ACVRL1 | c.188C= (p.Ala63=) c.146C= (p.Ala49=) c.103+648C= (n.103+648C=) | |
| 12 | g.51913183C>G | CA384897695 | ACVRL1 | c.188C>G (p.Ala63Gly) c.146C>G (p.Ala49Gly) c.103+648C>G (n.103+648C>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51913183C>T | CA384897696 | ACVRL1 | c.188C>T (p.Ala63Val) c.146C>T (p.Ala49Val) c.103+648C>T (n.103+648C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.51913184del | CA2695216668 | ACVRL1 | c.189del (p.Trp64GlyfsTer4) c.147del (p.Trp50GlyfsTer4) c.103+649del (n.103+649del) | |
| 12 | g.51913184C>A | CA480063108 | ACVRL1 | c.189C>A (p.Ala63=) c.147C>A (p.Ala49=) c.103+649C>A (n.103+649C>A) | |
| 12 | g.51913184C>G | CA480063109 | ACVRL1 | c.189C>G (p.Ala63=) c.147C>G (p.Ala49=) c.103+649C>G (n.103+649C>G) | |
| 12 | g.51913184C>T | CA480063111 | ACVRL1 | c.189C>T (p.Ala63=) c.147C>T (p.Ala49=) c.103+649C>T (n.103+649C>T) | |
| 12 | g.51913185T>A | CA384897698 | ACVRL1 | c.190T>A (p.Trp64Arg) c.148T>A (p.Trp50Arg) c.103+650T>A (n.103+650T>A) | |
| 12 | g.51913185T>C | CA384897700 | ACVRL1 | c.190T>C (p.Trp64Arg) c.148T>C (p.Trp50Arg) c.103+650T>C (n.103+650T>C) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51913185T>G | CA384897704 | ACVRL1 | c.190T>G (p.Trp64Gly) c.148T>G (p.Trp50Gly) c.103+650T>G (n.103+650T>G) | ClinVar dbSNP |
| 12 | g.51913185T= | CA2036267006 | ACVRL1 | c.190T= (p.Trp64=) c.148T= (p.Trp50=) c.103+650T= (n.103+650T=) | |
| 12 | g.51913186G>A | CA384897708 | ACVRL1 | c.191G>A (p.Trp64Ter) c.149G>A (p.Trp50Ter) c.103+651G>A (n.103+651G>A) | gnomAD v4 |
| 12 | g.51913186G>C | CA384897705 | ACVRL1 | c.191G>C (p.Trp64Ser) c.149G>C (p.Trp50Ser) c.103+651G>C (n.103+651G>C) | |
| 12 | g.51913186G= | CA2036267009 | ACVRL1 | c.191G= (p.Trp64=) c.149G= (p.Trp50=) c.103+651G= (n.103+651G=) | |
| 12 | g.51913186G>T | CA236361838 | ACVRL1 | c.191G>T (p.Trp64Leu) c.149G>T (p.Trp50Leu) c.103+651G>T (n.103+651G>T) | dbSNP gnomAD v4 |
| 12 | g.51913187G>A | CA384897709 | ACVRL1 | c.192G>A (p.Trp64Ter) c.150G>A (p.Trp50Ter) c.103+652G>A (n.103+652G>A) | gnomAD v4 |
| 12 | g.51913187G>C | CA384897711 | ACVRL1 | c.192G>C (p.Trp64Cys) c.150G>C (p.Trp50Cys) c.103+652G>C (n.103+652G>C) | ClinVar dbSNP |
| 12 | g.51913187G= | CA2036267012 | ACVRL1 | c.192G= (p.Trp64=) c.150G= (p.Trp50=) c.103+652G= (n.103+652G=) | |
| 12 | g.51913187G>T | CA254373 | ACVRL1 | c.192G>T (p.Trp64Cys) c.150G>T (p.Trp50Cys) c.103+652G>T (n.103+652G>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51913188T>A | CA384897713 | ACVRL1 | c.193T>A (p.Cys65Ser) c.151T>A (p.Cys51Ser) c.103+653T>A (n.103+653T>A) | ClinVar |
| 12 | g.51913188T>C | CA384897715 | ACVRL1 | c.193T>C (p.Cys65Arg) c.151T>C (p.Cys51Arg) c.103+653T>C (n.103+653T>C) | |
| 12 | g.51913188T>G | CA384897717 | ACVRL1 | c.193T>G (p.Cys65Gly) c.151T>G (p.Cys51Gly) c.103+653T>G (n.103+653T>G) | ClinVar dbSNP |
| 12 | g.51913188T= | CA2588340210 | ACVRL1 | c.193T= (p.Cys65=) c.151T= (p.Cys51=) c.103+653T= (n.103+653T=) | |
| 12 | g.51913189G>A | CA324720 | ACVRL1 | c.194G>A (p.Cys65Tyr) c.152G>A (p.Cys51Tyr) c.103+654G>A (n.103+654G>A) | ClinVar dbSNP |
| 12 | g.51913189G>C | CA384897720 | ACVRL1 | c.194G>C (p.Cys65Ser) c.152G>C (p.Cys51Ser) c.103+654G>C (n.103+654G>C) | |
| 12 | g.51913189G= | CA2036267015 | ACVRL1 | c.194G= (p.Cys65=) c.152G= (p.Cys51=) c.103+654G= (n.103+654G=) | |
| 12 | g.51913189G>T | CA384897722 | ACVRL1 | c.194G>T (p.Cys65Phe) c.152G>T (p.Cys51Phe) c.103+654G>T (n.103+654G>T) | gnomAD v4 |
| 12 | g.51913190C>A | CA384897723 | ACVRL1 | c.195C>A (p.Cys65Ter) c.153C>A (p.Cys51Ter) c.103+655C>A (n.103+655C>A) | |
| 12 | g.51913190C>G | CA384897725 | ACVRL1 | c.195C>G (p.Cys65Trp) c.153C>G (p.Cys51Trp) c.103+655C>G (n.103+655C>G) | |
| 12 | g.51913190C>T | CA480063114 | ACVRL1 | c.195C>T (p.Cys65=) c.153C>T (p.Cys51=) c.103+655C>T (n.103+655C>T) | |
| 12 | g.51913191A= | CA2036267018 | ACVRL1 | c.196A= (p.Thr66=) c.154A= (p.Thr52=) c.103+656A= (n.103+656A=) | |
| 12 | g.51913191A>C | CA384897726 | ACVRL1 | c.196A>C (p.Thr66Pro) c.154A>C (p.Thr52Pro) c.103+656A>C (n.103+656A>C) | ClinVar |
| 12 | g.51913191A>G | CA384897738 | ACVRL1 | c.196A>G (p.Thr66Ala) c.154A>G (p.Thr52Ala) c.103+656A>G (n.103+656A>G) | ClinVar dbSNP |
| 12 | g.51913191A>T | CA384897727 | ACVRL1 | c.196A>T (p.Thr66Ser) c.154A>T (p.Thr52Ser) c.103+656A>T (n.103+656A>T) | |
| 12 | g.51913192del | CA2695216670 | ACVRL1 | c.197del (p.Thr66LysfsTer2) c.155del (p.Thr52LysfsTer2) c.103+657del (n.103+657del) | |
| 12 | g.51913192C>A | CA384897742 | ACVRL1 | c.197C>A (p.Thr66Lys) c.155C>A (p.Thr52Lys) c.103+657C>A (n.103+657C>A) | |
| 12 | g.51913192C>G | CA384897745 | ACVRL1 | c.197C>G (p.Thr66Arg) c.155C>G (p.Thr52Arg) c.103+657C>G (n.103+657C>G) | |
| 12 | g.51913192C>T | CA384897743 | ACVRL1 | c.197C>T (p.Thr66Ile) c.155C>T (p.Thr52Ile) c.103+657C>T (n.103+657C>T) | gnomAD v4 |
| 12 | g.51913193A= | CA2036267021 | ACVRL1 | c.198A= (p.Thr66=) c.156A= (p.Thr52=) c.103+658A= (n.103+658A=) | |
| 12 | g.51913193A>C | CA480063121 | ACVRL1 | c.198A>C (p.Thr66=) c.156A>C (p.Thr52=) c.103+658A>C (n.103+658A>C) | |
| 12 | g.51913193A>G | CA480063119 | ACVRL1 | c.198A>G (p.Thr66=) c.156A>G (p.Thr52=) c.103+658A>G (n.103+658A>G) | dbSNP |
| 12 | g.51913193A>T | CA480063118 | ACVRL1 | c.198A>T (p.Thr66=) c.156A>T (p.Thr52=) c.103+658A>T (n.103+658A>T) | |
| 12 | g.51913196_51913198del | CA1139767800 | ACVRL1 | c.201_203del (p.Val68del) c.159_161del (p.Val54del) c.103+661_103+663del (n.103+661_103+663del) | ClinVar |
| 12 | g.51913194G>A | CA384897747 | ACVRL1 | c.199G>A (p.Val67Ile) c.157G>A (p.Val53Ile) c.103+659G>A (n.103+659G>A) | |
| 12 | g.51913194G>C | CA6572825 | ACVRL1 | c.199G>C (p.Val67Leu) c.157G>C (p.Val53Leu) c.103+659G>C (n.103+659G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913194G= | CA2036267023 | ACVRL1 | c.199G= (p.Val67=) c.157G= (p.Val53=) c.103+659G= (n.103+659G=) | |
| 12 | g.51913194G>T | CA384897748 | ACVRL1 | c.199G>T (p.Val67Leu) c.157G>T (p.Val53Leu) c.103+659G>T (n.103+659G>T) | gnomAD v4 |
| 12 | g.51913195T>A | CA384897750 | ACVRL1 | c.200T>A (p.Val67Glu) c.158T>A (p.Val53Glu) c.103+660T>A (n.103+660T>A) | |
| 12 | g.51913195T>C | CA384897754 | ACVRL1 | c.200T>C (p.Val67Ala) c.158T>C (p.Val53Ala) c.103+660T>C (n.103+660T>C) | ClinVar |
| 12 | g.51913195T>G | CA384897752 | ACVRL1 | c.200T>G (p.Val67Gly) c.158T>G (p.Val53Gly) c.103+660T>G (n.103+660T>G) | |
| 12 | g.51913196A>C | CA480063123 | ACVRL1 | c.201A>C (p.Val67=) c.159A>C (p.Val53=) c.103+661A>C (n.103+661A>C) | |
| 12 | g.51913196A>G | CA480063125 | ACVRL1 | c.201A>G (p.Val67=) c.159A>G (p.Val53=) c.103+661A>G (n.103+661A>G) | |
| 12 | g.51913196A>T | CA480063124 | ACVRL1 | c.201A>T (p.Val67=) c.159A>T (p.Val53=) c.103+661A>T (n.103+661A>T) | |
| 12 | g.51913197G>A | CA6572826 | ACVRL1 | c.202G>A (p.Val68Met) c.160G>A (p.Val54Met) c.103+662G>A (n.103+662G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913197G>C | CA384897756 | ACVRL1 | c.202G>C (p.Val68Leu) c.160G>C (p.Val54Leu) c.103+662G>C (n.103+662G>C) | |
| 12 | g.51913197G= | CA2036267026 | ACVRL1 | c.202G= (p.Val68=) c.160G= (p.Val54=) c.103+662G= (n.103+662G=) | |
| 12 | g.51913197G>T | CA384897758 | ACVRL1 | c.202G>T (p.Val68Leu) c.160G>T (p.Val54Leu) c.103+662G>T (n.103+662G>T) | gnomAD v4 |
| 12 | g.51913201_51913206del | CA2695216671 | ACVRL1 | c.206_211del (p.Leu69_Val70del) c.164_169del (p.Leu55_Val56del) c.103+666_103+671del (n.103+666_103+671del) | |
| 12 | g.51913198T>A | CA384897760 | ACVRL1 | c.203T>A (p.Val68Glu) c.161T>A (p.Val54Glu) c.103+663T>A (n.103+663T>A) | |
| 12 | g.51913198T>C | CA384897762 | ACVRL1 | c.203T>C (p.Val68Ala) c.161T>C (p.Val54Ala) c.103+663T>C (n.103+663T>C) | gnomAD v4 |
| 12 | g.51913198T>G | CA384897763 | ACVRL1 | c.203T>G (p.Val68Gly) c.161T>G (p.Val54Gly) c.103+663T>G (n.103+663T>G) | |
| 12 | g.51913199G>A | CA480063127 | ACVRL1 | c.204G>A (p.Val68=) c.162G>A (p.Val54=) c.103+664G>A (n.103+664G>A) | |
| 12 | g.51913199G>C | CA480063128 | ACVRL1 | c.204G>C (p.Val68=) c.162G>C (p.Val54=) c.103+664G>C (n.103+664G>C) | |
| 12 | g.51913199G>T | CA480063129 | ACVRL1 | c.204G>T (p.Val68=) c.162G>T (p.Val54=) c.103+664G>T (n.103+664G>T) | |
| 12 | g.51913200C>A | CA384897766 | ACVRL1 | c.205C>A (p.Leu69Met) c.163C>A (p.Leu55Met) c.103+665C>A (n.103+665C>A) | |
| 12 | g.51913200C>G | CA384897767 | ACVRL1 | c.205C>G (p.Leu69Val) c.163C>G (p.Leu55Val) c.103+665C>G (n.103+665C>G) | |
| 12 | g.51913200C>T | CA480062994 | ACVRL1 | c.205C>T (p.Leu69=) c.163C>T (p.Leu55=) c.103+665C>T (n.103+665C>T) | |
| 12 | g.51913201T>A | CA384897769 | ACVRL1 | c.206T>A (p.Leu69Gln) c.164T>A (p.Leu55Gln) c.103+666T>A (n.103+666T>A) | |
| 12 | g.51913201T>C | CA384897771 | ACVRL1 | c.206T>C (p.Leu69Pro) c.164T>C (p.Leu55Pro) c.103+666T>C (n.103+666T>C) | |
| 12 | g.51913201T>G | CA384897777 | ACVRL1 | c.206T>G (p.Leu69Arg) c.164T>G (p.Leu55Arg) c.103+666T>G (n.103+666T>G) | |
| 12 | g.51913202G>A | CA480062995 | ACVRL1 | c.207G>A (p.Leu69=) c.165G>A (p.Leu55=) c.103+667G>A (n.103+667G>A) | |
| 12 | g.51913202G>C | CA480062996 | ACVRL1 | c.207G>C (p.Leu69=) c.165G>C (p.Leu55=) c.103+667G>C (n.103+667G>C) | gnomAD v4 |
| 12 | g.51913202G>T | CA480062997 | ACVRL1 | c.207G>T (p.Leu69=) c.165G>T (p.Leu55=) c.103+667G>T (n.103+667G>T) | |
| 12 | g.51913203G>A | CA384897779 | ACVRL1 | c.208G>A (p.Val70Met) c.166G>A (p.Val56Met) c.103+668G>A (n.103+668G>A) | gnomAD v4 |
| 12 | g.51913203G>C | CA384897784 | ACVRL1 | c.208G>C (p.Val70Leu) c.166G>C (p.Val56Leu) c.103+668G>C (n.103+668G>C) | |
| 12 | g.51913203G>T | CA384897781 | ACVRL1 | c.208G>T (p.Val70Leu) c.166G>T (p.Val56Leu) c.103+668G>T (n.103+668G>T) | |
| 12 | g.51913204T>A | CA384897786 | ACVRL1 | c.209T>A (p.Val70Glu) c.167T>A (p.Val56Glu) c.103+669T>A (n.103+669T>A) | |
| 12 | g.51913204T>C | CA384897788 | ACVRL1 | c.209T>C (p.Val70Ala) c.167T>C (p.Val56Ala) c.103+669T>C (n.103+669T>C) | |
| 12 | g.51913204T>G | CA384897790 | ACVRL1 | c.209T>G (p.Val70Gly) c.167T>G (p.Val56Gly) c.103+669T>G (n.103+669T>G) | |
| 12 | g.51913205G>A | CA480063001 | ACVRL1 | c.210G>A (p.Val70=) c.168G>A (p.Val56=) c.103+670G>A (n.103+670G>A) | dbSNP gnomAD v4 |
| 12 | g.51913205G>C | CA480063002 | ACVRL1 | c.210G>C (p.Val70=) c.168G>C (p.Val56=) c.103+670G>C (n.103+670G>C) | |
| 12 | g.51913205G= | CA2036267028 | ACVRL1 | c.210G= (p.Val70=) c.168G= (p.Val56=) c.103+670G= (n.103+670G=) | |
| 12 | g.51913205G>T | CA480063003 | ACVRL1 | c.210G>T (p.Val70=) c.168G>T (p.Val56=) c.103+670G>T (n.103+670G>T) | COSMIC COSMIC |
| 12 | g.51913206C>A | CA6572827 | ACVRL1 | c.211C>A (p.Arg71=) c.169C>A (p.Arg57=) c.103+671C>A (n.103+671C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51913206C= | CA2036267031 | ACVRL1 | c.211C= (p.Arg71=) c.169C= (p.Arg57=) c.103+671C= (n.103+671C=) | |
| 12 | g.51913206C>G | CA384897794 | ACVRL1 | c.211C>G (p.Arg71Gly) c.169C>G (p.Arg57Gly) c.103+671C>G (n.103+671C>G) | |
| 12 | g.51913206C>T | CA384897796 | ACVRL1 | c.211C>T (p.Arg71Trp) c.169C>T (p.Arg57Trp) c.103+671C>T (n.103+671C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913207G>A | CA6572828 | ACVRL1 | c.212G>A (p.Arg71Gln) c.170G>A (p.Arg57Gln) c.103+672G>A (n.103+672G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.51913207G>C | CA384897798 | ACVRL1 | c.212G>C (p.Arg71Pro) c.170G>C (p.Arg57Pro) c.103+672G>C (n.103+672G>C) | |
| 12 | g.51913207G= | CA2036267033 | ACVRL1 | c.212G= (p.Arg71=) c.170G= (p.Arg57=) c.103+672G= (n.103+672G=) | |
| 12 | g.51913207G>T | CA384897800 | ACVRL1 | c.212G>T (p.Arg71Leu) c.170G>T (p.Arg57Leu) c.103+672G>T (n.103+672G>T) | gnomAD v4 |
| 12 | g.51913208G>A | CA480063005 | ACVRL1 | c.213G>A (p.Arg71=) c.171G>A (p.Arg57=) c.103+673G>A (n.103+673G>A) | |
| 12 | g.51913208G>C | CA480063006 | ACVRL1 | c.213G>C (p.Arg71=) c.171G>C (p.Arg57=) c.103+673G>C (n.103+673G>C) | |
| 12 | g.51913208G>T | CA480063007 | ACVRL1 | c.213G>T (p.Arg71=) c.171G>T (p.Arg57=) c.103+673G>T (n.103+673G>T) | |
| 12 | g.51913209G>A | CA6572829 | ACVRL1 | c.214G>A (p.Glu72Lys) c.172G>A (p.Glu58Lys) c.103+674G>A (n.103+674G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51913209G>C | CA384897805 | ACVRL1 | c.214G>C (p.Glu72Gln) c.172G>C (p.Glu58Gln) c.103+674G>C (n.103+674G>C) | |
| 12 | g.51913209G= | CA2036267035 | ACVRL1 | c.214G= (p.Glu72=) c.172G= (p.Glu58=) c.103+674G= (n.103+674G=) | |
| 12 | g.51913209G>T | CA384897802 | ACVRL1 | c.214G>T (p.Glu72Ter) c.172G>T (p.Glu58Ter) c.103+674G>T (n.103+674G>T) | gnomAD v4 |
| 12 | g.51913210A= | CA2036267038 | ACVRL1 | c.215A= (p.Glu72=) c.173A= (p.Glu58=) c.103+675A= (n.103+675A=) | |
| 12 | g.51913210A>C | CA384897807 | ACVRL1 | c.215A>C (p.Glu72Ala) c.173A>C (p.Glu58Ala) c.103+675A>C (n.103+675A>C) | |
| 12 | g.51913210A>G | CA384897809 | ACVRL1 | c.215A>G (p.Glu72Gly) c.173A>G (p.Glu58Gly) c.103+675A>G (n.103+675A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913210A>T | CA384897810 | ACVRL1 | c.215A>T (p.Glu72Val) c.173A>T (p.Glu58Val) c.103+675A>T (n.103+675A>T) | |
| 12 | g.51913211G>A | CA480063008 | ACVRL1 | c.216G>A (p.Glu72=) c.174G>A (p.Glu58=) c.103+676G>A (n.103+676G>A) | gnomAD v4 |
| 12 | g.51913211G>C | CA384897813 | ACVRL1 | c.216G>C (p.Glu72Asp) c.174G>C (p.Glu58Asp) c.103+676G>C (n.103+676G>C) | |
| 12 | g.51913211G>T | CA384897815 | ACVRL1 | c.216G>T (p.Glu72Asp) c.174G>T (p.Glu58Asp) c.103+676G>T (n.103+676G>T) | |
| 12 | g.51913212G>A | CA384897820 | ACVRL1 | c.217G>A (p.Glu73Lys) c.175G>A (p.Glu59Lys) c.103+677G>A (n.103+677G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913212G>C | CA384897817 | ACVRL1 | c.217G>C (p.Glu73Gln) c.175G>C (p.Glu59Gln) c.103+677G>C (n.103+677G>C) | |
| 12 | g.51913212G= | CA2036267039 | ACVRL1 | c.217G= (p.Glu73=) c.175G= (p.Glu59=) c.103+677G= (n.103+677G=) | |
| 12 | g.51913212G>T | CA384897818 | ACVRL1 | c.217G>T (p.Glu73Ter) c.175G>T (p.Glu59Ter) c.103+677G>T (n.103+677G>T) | gnomAD v4 |
| 12 | g.51913213A= | CA2036267041 | ACVRL1 | c.218A= (p.Glu73=) c.176A= (p.Glu59=) c.103+678A= (n.103+678A=) | |
| 12 | g.51913213A>C | CA384897822 | ACVRL1 | c.218A>C (p.Glu73Ala) c.176A>C (p.Glu59Ala) c.103+678A>C (n.103+678A>C) | |
| 12 | g.51913213A>G | CA384897824 | ACVRL1 | c.218A>G (p.Glu73Gly) c.176A>G (p.Glu59Gly) c.103+678A>G (n.103+678A>G) | |
| 12 | g.51913213A>T | CA384897825 | ACVRL1 | c.218A>T (p.Glu73Val) c.176A>T (p.Glu59Val) c.103+678A>T (n.103+678A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913214G>A | CA480063011 | ACVRL1 | c.219G>A (p.Glu73=) c.177G>A (p.Glu59=) c.103+679G>A (n.103+679G>A) | |
| 12 | g.51913214G>C | CA384897827 | ACVRL1 | c.219G>C (p.Glu73Asp) c.177G>C (p.Glu59Asp) c.103+679G>C (n.103+679G>C) | |
| 12 | g.51913214G>T | CA384897830 | ACVRL1 | c.219G>T (p.Glu73Asp) c.177G>T (p.Glu59Asp) c.103+679G>T (n.103+679G>T) | gnomAD v4 |
| 12 | g.51913214_51913217dup | CA2580086437 | ACVRL1 | c.219_222dup (p.Arg75GlyfsTer?) c.177_180dup (p.Arg61GlyfsTer?) c.103+679_103+682dup (n.103+679_103+682dup) | ClinVar |
| 12 | g.51913217del | CA2697559265 | ACVRL1 | c.222del (p.Arg75GlyfsTer?) c.180del (p.Arg61GlyfsTer?) c.103+682del (n.103+682del) | ClinVar |
| 12 | g.51913215G>A | CA384897833 | ACVRL1 | c.220G>A (p.Gly74Arg) c.178G>A (p.Gly60Arg) c.103+680G>A (n.103+680G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913215G>C | CA384897836 | ACVRL1 | c.220G>C (p.Gly74Arg) c.178G>C (p.Gly60Arg) c.103+680G>C (n.103+680G>C) | |
| 12 | g.51913215G= | CA2036267043 | ACVRL1 | c.220G= (p.Gly74=) c.178G= (p.Gly60=) c.103+680G= (n.103+680G=) | |
| 12 | g.51913215G>T | CA384897835 | ACVRL1 | c.220G>T (p.Gly74Trp) c.178G>T (p.Gly60Trp) c.103+680G>T (n.103+680G>T) | gnomAD v4 |
| 12 | g.51913216G>A | CA384897838 | ACVRL1 | c.221G>A (p.Gly74Glu) c.179G>A (p.Gly60Glu) c.103+681G>A (n.103+681G>A) | |
| 12 | g.51913216G>C | CA384897844 | ACVRL1 | c.221G>C (p.Gly74Ala) c.179G>C (p.Gly60Ala) c.103+681G>C (n.103+681G>C) | |
| 12 | g.51913216G>T | CA384897845 | ACVRL1 | c.221G>T (p.Gly74Val) c.179G>T (p.Gly60Val) c.103+681G>T (n.103+681G>T) | |
| 12 | g.51913217G>A | CA480063018 | ACVRL1 | c.222G>A (p.Gly74=) c.180G>A (p.Gly60=) c.103+682G>A (n.103+682G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913217G>C | CA480063015 | ACVRL1 | c.222G>C (p.Gly74=) c.180G>C (p.Gly60=) c.103+682G>C (n.103+682G>C) | |
| 12 | g.51913217G= | CA2036267045 | ACVRL1 | c.222G= (p.Gly74=) c.180G= (p.Gly60=) c.103+682G= (n.103+682G=) | |
| 12 | g.51913217G>T | CA480063017 | ACVRL1 | c.222G>T (p.Gly74=) c.180G>T (p.Gly60=) c.103+682G>T (n.103+682G>T) | |
| 12 | g.51913218A= | CA2036267047 | ACVRL1 | c.223A= (p.Arg75=) c.181A= (p.Arg61=) c.103+683A= (n.103+683A=) | |
| 12 | g.51913218A>C | CA480063019 | ACVRL1 | c.223A>C (p.Arg75=) c.181A>C (p.Arg61=) c.103+683A>C (n.103+683A>C) | |
| 12 | g.51913218A>G | CA384897846 | ACVRL1 | c.223A>G (p.Arg75Gly) c.181A>G (p.Arg61Gly) c.103+683A>G (n.103+683A>G) | |
| 12 | g.51913218A>T | CA236361856 | ACVRL1 | c.223A>T (p.Arg75Trp) c.181A>T (p.Arg61Trp) c.103+683A>T (n.103+683A>T) | dbSNP |
| 12 | g.51913218_51913219delinsAG | CA2036267048 | ACVRL1 | c.223_224delinsAG (p.Arg75=) c.181_182delinsAG (p.Arg61=) c.103+683_103+684delinsAG (n.103+683_103+684delinsAG) | |
| 12 | g.51913219G>A | CA384897847 | ACVRL1 | c.224G>A (p.Arg75Lys) c.182G>A (p.Arg61Lys) c.103+684G>A (n.103+684G>A) | ClinVar |
| 12 | g.51913219G>C | CA384897848 | ACVRL1 | c.224G>C (p.Arg75Thr) c.182G>C (p.Arg61Thr) c.103+684G>C (n.103+684G>C) | |
| 12 | g.51913219G>T | CA384897849 | ACVRL1 | c.224G>T (p.Arg75Met) c.182G>T (p.Arg61Met) c.103+684G>T (n.103+684G>T) | |
| 12 | g.51913219_51913220del | CA2795983300 | ACVRL1 | c.224_225del (p.Arg75ThrfsTer?) c.182_183del (p.Arg61ThrfsTer?) c.103+684_103+685del (n.103+684_103+685del) | |
| 12 | g.51913220del | CA16613747 | ACVRL1 | c.225del (p.Arg75SerfsTer?) c.183del (p.Arg61SerfsTer?) c.103+685del (n.103+685del) | ClinVar dbSNP |
| 12 | g.51913220G>A | CA480063021 | ACVRL1 | c.225G>A (p.Arg75=) c.183G>A (p.Arg61=) c.103+685G>A (n.103+685G>A) | |
| 12 | g.51913220G>C | CA384897850 | ACVRL1 | c.225G>C (p.Arg75Ser) c.183G>C (p.Arg61Ser) c.103+685G>C (n.103+685G>C) | ClinVar |
| 12 | g.51913220G= | CA2036267051 | ACVRL1 | c.225G= (p.Arg75=) c.183G= (p.Arg61=) c.103+685G= (n.103+685G=) | |
| 12 | g.51913220G>T | CA384897851 | ACVRL1 | c.225G>T (p.Arg75Ser) c.183G>T (p.Arg61Ser) c.103+685G>T (n.103+685G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913221C>A | CA384897853 | ACVRL1 | c.226C>A (p.His76Asn) c.184C>A (p.His62Asn) c.103+686C>A (n.103+686C>A) | |
| 12 | g.51913221C>G | CA384897854 | ACVRL1 | c.226C>G (p.His76Asp) c.184C>G (p.His62Asp) c.103+686C>G (n.103+686C>G) | gnomAD v4 |
| 12 | g.51913221C>T | CA384897852 | ACVRL1 | c.226C>T (p.His76Tyr) c.184C>T (p.His62Tyr) c.103+686C>T (n.103+686C>T) | |
| 12 | g.51913222A= | CA2036267054 | ACVRL1 | c.227A= (p.His76=) c.185A= (p.His62=) c.103+687A= (n.103+687A=) | |
| 12 | g.51913222A>C | CA384897857 | ACVRL1 | c.227A>C (p.His76Pro) c.185A>C (p.His62Pro) c.103+687A>C (n.103+687A>C) | dbSNP |
| 12 | g.51913222A>G | CA384897855 | ACVRL1 | c.227A>G (p.His76Arg) c.185A>G (p.His62Arg) c.103+687A>G (n.103+687A>G) | |
| 12 | g.51913222A>T | CA384897856 | ACVRL1 | c.227A>T (p.His76Leu) c.185A>T (p.His62Leu) c.103+687A>T (n.103+687A>T) | |
| 12 | g.51913222_51913223delinsAC | CA2036267053 | ACVRL1 | c.227_228delinsAC (p.His76=) c.185_186delinsAC (p.His62=) c.103+687_103+688delinsAC (n.103+687_103+688delinsAC) | |
| 12 | g.51913223C>A | CA384897858 | ACVRL1 | c.228C>A (p.His76Gln) c.186C>A (p.His62Gln) c.103+688C>A (n.103+688C>A) | gnomAD v4 |
| 12 | g.51913223C>G | CA384897859 | ACVRL1 | c.228C>G (p.His76Gln) c.186C>G (p.His62Gln) c.103+688C>G (n.103+688C>G) | |
| 12 | g.51913223C>T | CA480063024 | ACVRL1 | c.228C>T (p.His76=) c.186C>T (p.His62=) c.103+688C>T (n.103+688C>T) | |
| 12 | g.51913227del | CA16614036 | ACVRL1 | c.232del (p.Gln78ArgfsTer?) c.190del (p.Gln64ArgfsTer?) c.103+692del (n.103+692del) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.51913224C>A | CA384897860 | ACVRL1 | c.229C>A (p.Pro77Thr) c.187C>A (p.Pro63Thr) c.103+689C>A (n.103+689C>A) | gnomAD v4 |
| 12 | g.51913224C= | CA2036267059 | ACVRL1 | c.229C= (p.Pro77=) c.187C= (p.Pro63=) c.103+689C= (n.103+689C=) | |
| 12 | g.51913224C>G | CA236361863 | ACVRL1 | c.229C>G (p.Pro77Ala) c.187C>G (p.Pro63Ala) c.103+689C>G (n.103+689C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51913224C>T | CA384897861 | ACVRL1 | c.229C>T (p.Pro77Ser) c.187C>T (p.Pro63Ser) c.103+689C>T (n.103+689C>T) | gnomAD v4 |
| 12 | g.51913225C>A | CA384897862 | ACVRL1 | c.230C>A (p.Pro77His) c.188C>A (p.Pro63His) c.103+690C>A (n.103+690C>A) | |
| 12 | g.51913225C= | CA2036267061 | ACVRL1 | c.230C= (p.Pro77=) c.188C= (p.Pro63=) c.103+690C= (n.103+690C=) | |
| 12 | g.51913225C>G | CA6572830 | ACVRL1 | c.230C>G (p.Pro77Arg) c.188C>G (p.Pro63Arg) c.103+690C>G (n.103+690C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51913225C>T | CA384897863 | ACVRL1 | c.230C>T (p.Pro77Leu) c.188C>T (p.Pro63Leu) c.103+690C>T (n.103+690C>T) | |
| 12 | g.51913226C>A | CA480063027 | ACVRL1 | c.231C>A (p.Pro77=) c.189C>A (p.Pro63=) c.103+691C>A (n.103+691C>A) | |
| 12 | g.51913226C= | CA2036267064 | ACVRL1 | c.231C= (p.Pro77=) c.189C= (p.Pro63=) c.103+691C= (n.103+691C=) | |
| 12 | g.51913226C>G | CA236361868 | ACVRL1 | c.231C>G (p.Pro77=) c.189C>G (p.Pro63=) c.103+691C>G (n.103+691C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51913226C>T | CA6572831 | ACVRL1 | c.231C>T (p.Pro77=) c.189C>T (p.Pro63=) c.103+691C>T (n.103+691C>T) | dbSNP ExAC gnomAD v4 |
| 12 | g.51913227C>A | CA384897864 | ACVRL1 | c.232C>A (p.Gln78Lys) c.190C>A (p.Gln64Lys) c.103+692C>A (n.103+692C>A) | |
| 12 | g.51913227C= | CA2036267066 | ACVRL1 | c.232C= (p.Gln78=) c.190C= (p.Gln64=) c.103+692C= (n.103+692C=) | |
| 12 | g.51913227C>G | CA384897865 | ACVRL1 | c.232C>G (p.Gln78Glu) c.190C>G (p.Gln64Glu) c.103+692C>G (n.103+692C>G) | |
| 12 | g.51913227C>T | CA384897866 | ACVRL1 | c.232C>T (p.Gln78Ter) c.190C>T (p.Gln64Ter) c.103+692C>T (n.103+692C>T) | ClinVar dbSNP |
| 12 | g.51913228del | CA2618857274 | ACVRL1 | c.233del (p.Gln78ArgfsTer?) c.191del (p.Gln64ArgfsTer?) c.103+693del (n.103+693del) | gnomAD v4 |
| 12 | g.51913228A= | CA2036267068 | ACVRL1 | c.233A= (p.Gln78=) c.191A= (p.Gln64=) c.103+693A= (n.103+693A=) | |
| 12 | g.51913228A>C | CA236361874 | ACVRL1 | c.233A>C (p.Gln78Pro) c.191A>C (p.Gln64Pro) c.103+693A>C (n.103+693A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51913228A>G | CA384897868 | ACVRL1 | c.233A>G (p.Gln78Arg) c.191A>G (p.Gln64Arg) c.103+693A>G (n.103+693A>G) | dbSNP |
| 12 | g.51913228A>T | CA384897867 | ACVRL1 | c.233A>T (p.Gln78Leu) c.191A>T (p.Gln64Leu) c.103+693A>T (n.103+693A>T) | |
| 12 | g.51913228dup | CA2739272039 | ACVRL1 | c.233dup (p.Glu79GlyfsTer?) c.191dup (p.Glu65GlyfsTer?) c.103+693dup (n.103+693dup) | ClinVar |
| 12 | g.51913229G>A | CA480063029 | ACVRL1 | c.234G>A (p.Gln78=) c.192G>A (p.Gln64=) c.103+694G>A (n.103+694G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913229G>C | CA384897869 | ACVRL1 | c.234G>C (p.Gln78His) c.192G>C (p.Gln64His) c.103+694G>C (n.103+694G>C) | |
| 12 | g.51913229G= | CA2036267070 | ACVRL1 | c.234G= (p.Gln78=) c.192G= (p.Gln64=) c.103+694G= (n.103+694G=) | |
| 12 | g.51913229G>T | CA384897870 | ACVRL1 | c.234G>T (p.Gln78His) c.192G>T (p.Gln64His) c.103+694G>T (n.103+694G>T) | gnomAD v4 |
| 12 | g.51913230del | CA2573148774 | ACVRL1 | c.235del (p.Glu79AsnfsTer?) c.193del (p.Glu65AsnfsTer?) c.103+695del (n.103+695del) | ClinVar dbSNP |