Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51913140A>CCA384897518ACVRL1c.103A>C (p.Thr35Pro)
c.103+605A>C (p.=)
c.145A>C (p.Thr49Pro)
12g.51913140A>GCA384897524ACVRL1c.103A>G (p.Thr35Ala)
c.103+605A>G (p.=)
c.145A>G (p.Thr49Ala)
12g.51913140A>TCA384897522ACVRL1c.103A>T (p.Thr35Ser)
c.103+605A>T (p.=)
c.145A>T (p.Thr49Ser)
12g.51913141C>ACA384897526ACVRL1c.104C>A (p.Thr35Lys)
c.103+606C>A (p.=)
c.146C>A (p.Thr49Lys)
COSMIC
12g.51913141C=CA2036266921ACVRL1c.104C= (p.Thr35=)
c.103+606C= (p.=)
c.146C= (p.Thr49=)
12g.51913141C>GCA384897528ACVRL1c.104C>G (p.Thr35Arg)
c.103+606C>G (p.=)
c.146C>G (p.Thr49Arg)
12g.51913141C>TCA6572815ACVRL1c.104C>T (p.Thr35Met)
c.103+606C>T (p.=)
c.146C>T (p.Thr49Met)
dbSNP ExAC gnomAD
12g.51913141_51913142delinsCGCA2036266922ACVRL1c.104_105delinsCG (p.Thr35=)
c.103+606_103+607delinsCG (p.=)
c.146_147delinsCG (p.Thr49=)
12g.51913142delCA658683789ACVRL1c.105del (p.Cys36ValfsTer18)
c.103+607del (p.=)
c.147del (p.Cys50ValfsTer18)
ClinVar dbSNP
12g.51913142G>ACA6572816ACVRL1c.105G>A (p.Thr35=)
c.103+607G>A (p.=)
c.147G>A (p.Thr49=)
dbSNP ExAC gnomAD
12g.51913142G>CCA480063053ACVRL1c.105G>C (p.Thr35=)
c.103+607G>C (p.=)
c.147G>C (p.Thr49=)
gnomAD
12g.51913142G=CA2036266924ACVRL1c.105G= (p.Thr35=)
c.103+607G= (p.=)
c.147G= (p.Thr49=)
12g.51913142G>TCA480063054ACVRL1c.105G>T (p.Thr35=)
c.103+607G>T (p.=)
c.147G>T (p.Thr49=)
12g.51913143T>ACA384897532ACVRL1c.106T>A (p.Cys36Ser)
c.103+608T>A (p.=)
c.148T>A (p.Cys50Ser)
12g.51913143T>CCA384897534ACVRL1c.106T>C (p.Cys36Arg)
c.103+608T>C (p.=)
c.148T>C (p.Cys50Arg)
ClinVar
12g.51913143T>GCA384897536ACVRL1c.106T>G (p.Cys36Gly)
c.103+608T>G (p.=)
c.148T>G (p.Cys50Gly)
12g.51913144G>ACA384897542ACVRL1c.107G>A (p.Cys36Tyr)
c.103+609G>A (p.=)
c.149G>A (p.Cys50Tyr)
COSMIC COSMIC
12g.51913144G>CCA384897539ACVRL1c.107G>C (p.Cys36Ser)
c.103+609G>C (p.=)
c.149G>C (p.Cys50Ser)
12g.51913144G>TCA384897540ACVRL1c.107G>T (p.Cys36Phe)
c.103+609G>T (p.=)
c.149G>T (p.Cys50Phe)
12g.51913145T>ACA384897544ACVRL1c.108T>A (p.Cys36Ter)
c.103+610T>A (p.=)
c.150T>A (p.Cys50Ter)
12g.51913145T>CCA480063058ACVRL1c.108T>C (p.Cys36=)
c.103+610T>C (p.=)
c.150T>C (p.Cys50=)
12g.51913145T>GCA384897546ACVRL1c.108T>G (p.Cys36Trp)
c.103+610T>G (p.=)
c.150T>G (p.Cys50Trp)
12g.51913146G>ACA384897549ACVRL1c.109G>A (p.Glu37Lys)
c.103+611G>A (p.=)
c.151G>A (p.Glu51Lys)
12g.51913146G>CCA384897550ACVRL1c.109G>C (p.Glu37Gln)
c.103+611G>C (p.=)
c.151G>C (p.Glu51Gln)
12g.51913146G>TCA384897552ACVRL1c.109G>T (p.Glu37Ter)
c.103+611G>T (p.=)
c.151G>T (p.Glu51Ter)
12g.51913147A>CCA384897554ACVRL1c.110A>C (p.Glu37Ala)
c.103+612A>C (p.=)
c.152A>C (p.Glu51Ala)
12g.51913147A>GCA384897556ACVRL1c.110A>G (p.Glu37Gly)
c.103+612A>G (p.=)
c.152A>G (p.Glu51Gly)
12g.51913147A>TCA384897555ACVRL1c.110A>T (p.Glu37Val)
c.103+612A>T (p.=)
c.152A>T (p.Glu51Val)
12g.51913148G>ACA6572817ACVRL1c.111G>A (p.Glu37=)
c.103+613G>A (p.=)
c.153G>A (p.Glu51=)
ClinVar dbSNP ExAC gnomAD
12g.51913148G>CCA384897557ACVRL1c.111G>C (p.Glu37Asp)
c.103+613G>C (p.=)
c.153G>C (p.Glu51Asp)
gnomAD
12g.51913148G=CA2036266926ACVRL1c.111G= (p.Glu37=)
c.103+613G= (p.=)
c.153G= (p.Glu51=)
12g.51913148G>TCA384897558ACVRL1c.111G>T (p.Glu37Asp)
c.103+613G>T (p.=)
c.153G>T (p.Glu51Asp)
12g.51913149A>CCA384897559ACVRL1c.112A>C (p.Ser38Arg)
c.103+614A>C (p.=)
c.154A>C (p.Ser52Arg)
12g.51913149A>GCA384897560ACVRL1c.112A>G (p.Ser38Gly)
c.103+614A>G (p.=)
c.154A>G (p.Ser52Gly)
12g.51913149A>TCA384897561ACVRL1c.112A>T (p.Ser38Cys)
c.103+614A>T (p.=)
c.154A>T (p.Ser52Cys)
12g.51913150G>ACA384897562ACVRL1c.113G>A (p.Ser38Asn)
c.103+615G>A (p.=)
c.155G>A (p.Ser52Asn)
gnomAD
12g.51913150G>CCA384897563ACVRL1c.113G>C (p.Ser38Thr)
c.103+615G>C (p.=)
c.155G>C (p.Ser52Thr)
12g.51913150G=CA2036266927ACVRL1c.113G= (p.Ser38=)
c.103+615G= (p.=)
c.155G= (p.Ser52=)
12g.51913150G>TCA384897565ACVRL1c.113G>T (p.Ser38Ile)
c.103+615G>T (p.=)
c.155G>T (p.Ser52Ile)
12g.51913151C>ACA384897568ACVRL1c.114C>A (p.Ser38Arg)
c.103+616C>A (p.=)
c.156C>A (p.Ser52Arg)
12g.51913151C>GCA384897569ACVRL1c.114C>G (p.Ser38Arg)
c.103+616C>G (p.=)
c.156C>G (p.Ser52Arg)
12g.51913151C>TCA480063062ACVRL1c.114C>T (p.Ser38=)
c.103+616C>T (p.=)
c.156C>T (p.Ser52=)
12g.51913152_51913153delCA2499221743ACVRL1c.115_116del (p.Pro39ThrfsTer?)
c.103+617_103+618del (p.=)
c.157_158del (p.Pro53ThrfsTer?)
ClinVar
12g.51913152C>ACA384897571ACVRL1c.115C>A (p.Pro39Thr)
c.103+617C>A (p.=)
c.157C>A (p.Pro53Thr)
gnomAD
12g.51913152C=CA2036266930ACVRL1c.115C= (p.Pro39=)
c.103+617C= (p.=)
c.157C= (p.Pro53=)
12g.51913152C>GCA384897575ACVRL1c.115C>G (p.Pro39Ala)
c.103+617C>G (p.=)
c.157C>G (p.Pro53Ala)
12g.51913152C>TCA384897573ACVRL1c.115C>T (p.Pro39Ser)
c.103+617C>T (p.=)
c.157C>T (p.Pro53Ser)
12g.51913153C>ACA384897577ACVRL1c.116C>A (p.Pro39Gln)
c.103+618C>A (p.=)
c.158C>A (p.Pro53Gln)
12g.51913153C=CA2036266931ACVRL1c.116C= (p.Pro39=)
c.103+618C= (p.=)
c.158C= (p.Pro53=)
12g.51913153C>GCA384897579ACVRL1c.116C>G (p.Pro39Arg)
c.103+618C>G (p.=)
c.158C>G (p.Pro53Arg)

Number of alleles fetched