Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38477344A>CCA352126130ACVR2Bc.110A>C (p.Glu37Ala)
n.3899A>C
n.114A>C
c.173A>C (p.Glu58Ala)
c.152A>C (p.Glu51Ala)
c.128A>C (p.Glu43Ala)
c.107A>C (p.Glu36Ala)
3g.38477344A>GCA352126134ACVR2Bc.110A>G (p.Glu37Gly)
n.3899A>G
n.114A>G
c.173A>G (p.Glu58Gly)
c.152A>G (p.Glu51Gly)
c.128A>G (p.Glu43Gly)
c.107A>G (p.Glu36Gly)
3g.38477344A>TCA352126131ACVR2Bc.110A>T (p.Glu37Val)
n.3899A>T
n.114A>T
c.173A>T (p.Glu58Val)
c.152A>T (p.Glu51Val)
c.128A>T (p.Glu43Val)
c.107A>T (p.Glu36Val)
3g.38477345G>ACA433137374ACVR2Bc.111G>A (p.Glu37=)
n.3900G>A
n.115G>A
c.174G>A (p.Glu58=)
c.153G>A (p.Glu51=)
c.129G>A (p.Glu43=)
c.108G>A (p.Glu36=)
3g.38477345G>CCA352126136ACVR2Bc.111G>C (p.Glu37Asp)
n.3900G>C
n.115G>C
c.174G>C (p.Glu58Asp)
c.153G>C (p.Glu51Asp)
c.129G>C (p.Glu43Asp)
c.108G>C (p.Glu36Asp)
3g.38477345G>TCA352126138ACVR2Bc.111G>T (p.Glu37Asp)
n.3900G>T
n.115G>T
c.174G>T (p.Glu58Asp)
c.153G>T (p.Glu51Asp)
c.129G>T (p.Glu43Asp)
c.108G>T (p.Glu36Asp)
3g.38477346C>ACA352126140ACVR2Bc.112C>A (p.Leu38Met)
n.3901C>A
n.116C>A
c.175C>A (p.Leu59Met)
c.154C>A (p.Leu52Met)
c.130C>A (p.Leu44Met)
c.109C>A (p.Leu37Met)
 COSMIC COSMIC
3g.38477346C=CA1358528916ACVR2Bc.112C= (p.Leu38=)
n.3901C=
n.116C=
c.175C= (p.Leu59=)
c.154C= (p.Leu52=)
c.130C= (p.Leu44=)
c.109C= (p.Leu37=)
3g.38477346C>GCA352126142ACVR2Bc.112C>G (p.Leu38Val)
n.3901C>G
n.116C>G
c.175C>G (p.Leu59Val)
c.154C>G (p.Leu52Val)
c.130C>G (p.Leu44Val)
c.109C>G (p.Leu37Val)
3g.38477346C>TCA2318705ACVR2Bc.112C>T (p.Leu38=)
n.3901C>T
n.116C>T
c.175C>T (p.Leu59=)
c.154C>T (p.Leu52=)
c.130C>T (p.Leu44=)
c.109C>T (p.Leu37=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477347T>ACA352126146ACVR2Bc.113T>A (p.Leu38Gln)
n.3902T>A
n.117T>A
c.176T>A (p.Leu59Gln)
c.155T>A (p.Leu52Gln)
c.131T>A (p.Leu44Gln)
c.110T>A (p.Leu37Gln)
3g.38477347T>CCA352126147ACVR2Bc.113T>C (p.Leu38Pro)
n.3902T>C
n.117T>C
c.176T>C (p.Leu59Pro)
c.155T>C (p.Leu52Pro)
c.131T>C (p.Leu44Pro)
c.110T>C (p.Leu37Pro)
3g.38477347T>GCA352126150ACVR2Bc.113T>G (p.Leu38Arg)
n.3902T>G
n.117T>G
c.176T>G (p.Leu59Arg)
c.155T>G (p.Leu52Arg)
c.131T>G (p.Leu44Arg)
c.110T>G (p.Leu37Arg)
3g.38477348G>ACA433137375ACVR2Bc.114G>A (p.Leu38=)
n.3903G>A
n.118G>A
c.177G>A (p.Leu59=)
c.156G>A (p.Leu52=)
c.132G>A (p.Leu44=)
c.111G>A (p.Leu37=)
3g.38477348G>CCA433137376ACVR2Bc.114G>C (p.Leu38=)
n.3903G>C
n.118G>C
c.177G>C (p.Leu59=)
c.156G>C (p.Leu52=)
c.132G>C (p.Leu44=)
c.111G>C (p.Leu37=)
3g.38477348G>TCA433137377ACVR2Bc.114G>T (p.Leu38=)
n.3903G>T
n.118G>T
c.177G>T (p.Leu59=)
c.156G>T (p.Leu52=)
c.132G>T (p.Leu44=)
c.111G>T (p.Leu37=)
3g.38477349G>ACA352126155ACVR2Bc.115G>A (p.Glu39Lys)
n.3904G>A
n.119G>A
c.178G>A (p.Glu60Lys)
c.157G>A (p.Glu53Lys)
c.133G>A (p.Glu45Lys)
c.112G>A (p.Glu38Lys)
3g.38477349G>CCA352126157ACVR2Bc.115G>C (p.Glu39Gln)
n.3904G>C
n.119G>C
c.178G>C (p.Glu60Gln)
c.157G>C (p.Glu53Gln)
c.133G>C (p.Glu45Gln)
c.112G>C (p.Glu38Gln)
3g.38477349G>TCA352126160ACVR2Bc.115G>T (p.Glu39Ter)
n.3904G>T
n.119G>T
c.178G>T (p.Glu60Ter)
c.157G>T (p.Glu53Ter)
c.133G>T (p.Glu45Ter)
c.112G>T (p.Glu38Ter)
3g.38477350A>CCA352126162ACVR2Bc.116A>C (p.Glu39Ala)
n.3905A>C
n.120A>C
c.179A>C (p.Glu60Ala)
c.158A>C (p.Glu53Ala)
c.134A>C (p.Glu45Ala)
c.113A>C (p.Glu38Ala)
3g.38477350A>GCA352126166ACVR2Bc.116A>G (p.Glu39Gly)
n.3905A>G
n.120A>G
c.179A>G (p.Glu60Gly)
c.158A>G (p.Glu53Gly)
c.134A>G (p.Glu45Gly)
c.113A>G (p.Glu38Gly)
3g.38477350A>TCA352126165ACVR2Bc.116A>T (p.Glu39Val)
n.3905A>T
n.120A>T
c.179A>T (p.Glu60Val)
c.158A>T (p.Glu53Val)
c.134A>T (p.Glu45Val)
c.113A>T (p.Glu38Val)
3g.38477351G>ACA2318706ACVR2Bc.117G>A (p.Glu39=)
n.3906G>A
n.121G>A
c.180G>A (p.Glu60=)
c.159G>A (p.Glu53=)
c.135G>A (p.Glu45=)
c.114G>A (p.Glu38=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477351G>CCA352126169ACVR2Bc.117G>C (p.Glu39Asp)
n.3906G>C
n.121G>C
c.180G>C (p.Glu60Asp)
c.159G>C (p.Glu53Asp)
c.135G>C (p.Glu45Asp)
c.114G>C (p.Glu38Asp)
 dbSNP
3g.38477351G=CA1358528917ACVR2Bc.117G= (p.Glu39=)
n.3906G=
n.121G=
c.180G= (p.Glu60=)
c.159G= (p.Glu53=)
c.135G= (p.Glu45=)
c.114G= (p.Glu38=)
3g.38477351G>TCA352126172ACVR2Bc.117G>T (p.Glu39Asp)
n.3906G>T
n.121G>T
c.180G>T (p.Glu60Asp)
c.159G>T (p.Glu53Asp)
c.135G>T (p.Glu45Asp)
c.114G>T (p.Glu38Asp)
3g.38477352C>ACA352126175ACVR2Bc.118C>A (p.Arg40Ser)
n.3907C>A
n.122C>A
c.181C>A (p.Arg61Ser)
c.160C>A (p.Arg54Ser)
c.136C>A (p.Arg46Ser)
c.115C>A (p.Arg39Ser)
3g.38477352C=CA1358528918ACVR2Bc.118C= (p.Arg40=)
n.3907C=
n.122C=
c.181C= (p.Arg61=)
c.160C= (p.Arg54=)
c.136C= (p.Arg46=)
c.115C= (p.Arg39=)
3g.38477352C>GCA352126177ACVR2Bc.118C>G (p.Arg40Gly)
n.3907C>G
n.122C>G
c.181C>G (p.Arg61Gly)
c.160C>G (p.Arg54Gly)
c.136C>G (p.Arg46Gly)
c.115C>G (p.Arg39Gly)
3g.38477352C>TCA352126180ACVR2Bc.118C>T (p.Arg40Cys)
n.3907C>T
n.122C>T
c.181C>T (p.Arg61Cys)
c.160C>T (p.Arg54Cys)
c.136C>T (p.Arg46Cys)
c.115C>T (p.Arg39Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38477353G>ACA281591ACVR2Bc.119G>A (p.Arg40His)
n.3908G>A
n.123G>A
c.182G>A (p.Arg61His)
c.161G>A (p.Arg54His)
c.137G>A (p.Arg46His)
c.116G>A (p.Arg39His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477353G>CCA352126194ACVR2Bc.119G>C (p.Arg40Pro)
n.3908G>C
n.123G>C
c.182G>C (p.Arg61Pro)
c.161G>C (p.Arg54Pro)
c.137G>C (p.Arg46Pro)
c.116G>C (p.Arg39Pro)
 gnomAD v4
3g.38477353G=CA1358528919ACVR2Bc.119G= (p.Arg40=)
n.3908G=
n.123G=
c.182G= (p.Arg61=)
c.161G= (p.Arg54=)
c.137G= (p.Arg46=)
c.116G= (p.Arg39=)
3g.38477353G>TCA352126195ACVR2Bc.119G>T (p.Arg40Leu)
n.3908G>T
n.123G>T
c.182G>T (p.Arg61Leu)
c.161G>T (p.Arg54Leu)
c.137G>T (p.Arg46Leu)
c.116G>T (p.Arg39Leu)
3g.38477354C>ACA433137378ACVR2Bc.120C>A (p.Arg40=)
n.3909C>A
n.124C>A
c.183C>A (p.Arg61=)
c.162C>A (p.Arg54=)
c.138C>A (p.Arg46=)
c.117C>A (p.Arg39=)
3g.38477354C>GCA433137379ACVR2Bc.120C>G (p.Arg40=)
n.3909C>G
n.124C>G
c.183C>G (p.Arg61=)
c.162C>G (p.Arg54=)
c.138C>G (p.Arg46=)
c.117C>G (p.Arg39=)
3g.38477354C>TCA433137380ACVR2Bc.120C>T (p.Arg40=)
n.3909C>T
n.124C>T
c.183C>T (p.Arg61=)
c.162C>T (p.Arg54=)
c.138C>T (p.Arg46=)
c.117C>T (p.Arg39=)
3g.38477355A=CA1358528920ACVR2Bc.121A= (p.Thr41=)
n.3910A=
n.125A=
c.184A= (p.Thr62=)
c.163A= (p.Thr55=)
c.139A= (p.Thr47=)
c.118A= (p.Thr40=)
3g.38477355A>CCA352126198ACVR2Bc.121A>C (p.Thr41Pro)
n.3910A>C
n.125A>C
c.184A>C (p.Thr62Pro)
c.163A>C (p.Thr55Pro)
c.139A>C (p.Thr47Pro)
c.118A>C (p.Thr40Pro)
 dbSNP
3g.38477355A>GCA352126200ACVR2Bc.121A>G (p.Thr41Ala)
n.3910A>G
n.125A>G
c.184A>G (p.Thr62Ala)
c.163A>G (p.Thr55Ala)
c.139A>G (p.Thr47Ala)
c.118A>G (p.Thr40Ala)
3g.38477355A>TCA352126202ACVR2Bc.121A>T (p.Thr41Ser)
n.3910A>T
n.125A>T
c.184A>T (p.Thr62Ser)
c.163A>T (p.Thr55Ser)
c.139A>T (p.Thr47Ser)
c.118A>T (p.Thr40Ser)
3g.38477356C>ACA352126208ACVR2Bc.122C>A (p.Thr41Asn)
n.3911C>A
n.126C>A
c.185C>A (p.Thr62Asn)
c.164C>A (p.Thr55Asn)
c.140C>A (p.Thr47Asn)
c.119C>A (p.Thr40Asn)
3g.38477356C=CA1358528921ACVR2Bc.122C= (p.Thr41=)
n.3911C=
n.126C=
c.185C= (p.Thr62=)
c.164C= (p.Thr55=)
c.140C= (p.Thr47=)
c.119C= (p.Thr40=)
3g.38477356C>GCA352126204ACVR2Bc.122C>G (p.Thr41Ser)
n.3911C>G
n.126C>G
c.185C>G (p.Thr62Ser)
c.164C>G (p.Thr55Ser)
c.140C>G (p.Thr47Ser)
c.119C>G (p.Thr40Ser)
3g.38477356C>TCA352126205ACVR2Bc.122C>T (p.Thr41Ile)
n.3911C>T
n.126C>T
c.185C>T (p.Thr62Ile)
c.164C>T (p.Thr55Ile)
c.140C>T (p.Thr47Ile)
c.119C>T (p.Thr40Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38477357C>ACA433137381ACVR2Bc.123C>A (p.Thr41=)
n.3912C>A
n.127C>A
c.186C>A (p.Thr62=)
c.165C>A (p.Thr55=)
c.141C>A (p.Thr47=)
c.120C>A (p.Thr40=)
3g.38477357C=CA1358528922ACVR2Bc.123C= (p.Thr41=)
n.3912C=
n.127C=
c.186C= (p.Thr62=)
c.165C= (p.Thr55=)
c.141C= (p.Thr47=)
c.120C= (p.Thr40=)
3g.38477357C>GCA433137382ACVR2Bc.123C>G (p.Thr41=)
n.3912C>G
n.127C>G
c.186C>G (p.Thr62=)
c.165C>G (p.Thr55=)
c.141C>G (p.Thr47=)
c.120C>G (p.Thr40=)
3g.38477357C>TCA2318707ACVR2Bc.123C>T (p.Thr41=)
n.3912C>T
n.127C>T
c.186C>T (p.Thr62=)
c.165C>T (p.Thr55=)
c.141C>T (p.Thr47=)
c.120C>T (p.Thr40=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477358A>CCA352126212ACVR2Bc.124A>C (p.Asn42His)
n.3913A>C
n.128A>C
c.187A>C (p.Asn63His)
c.166A>C (p.Asn56His)
c.142A>C (p.Asn48His)
c.121A>C (p.Asn41His)
3g.38477358A>GCA352126214ACVR2Bc.124A>G (p.Asn42Asp)
n.3913A>G
n.128A>G
c.187A>G (p.Asn63Asp)
c.166A>G (p.Asn56Asp)
c.142A>G (p.Asn48Asp)
c.121A>G (p.Asn41Asp)
3g.38477358A>TCA352126217ACVR2Bc.124A>T (p.Asn42Tyr)
n.3913A>T
n.128A>T
c.187A>T (p.Asn63Tyr)
c.166A>T (p.Asn56Tyr)
c.142A>T (p.Asn48Tyr)
c.121A>T (p.Asn41Tyr)
3g.38477359A>CCA352126219ACVR2Bc.125A>C (p.Asn42Thr)
n.3914A>C
n.129A>C
c.188A>C (p.Asn63Thr)
c.167A>C (p.Asn56Thr)
c.143A>C (p.Asn48Thr)
c.122A>C (p.Asn41Thr)
3g.38477359A>GCA352126220ACVR2Bc.125A>G (p.Asn42Ser)
n.3914A>G
n.129A>G
c.188A>G (p.Asn63Ser)
c.167A>G (p.Asn56Ser)
c.143A>G (p.Asn48Ser)
c.122A>G (p.Asn41Ser)
3g.38477359A>TCA352126221ACVR2Bc.125A>T (p.Asn42Ile)
n.3914A>T
n.129A>T
c.188A>T (p.Asn63Ile)
c.167A>T (p.Asn56Ile)
c.143A>T (p.Asn48Ile)
c.122A>T (p.Asn41Ile)
3g.38477360C>ACA352126224ACVR2Bc.126C>A (p.Asn42Lys)
n.3915C>A
n.130C>A
c.189C>A (p.Asn63Lys)
c.168C>A (p.Asn56Lys)
c.144C>A (p.Asn48Lys)
c.123C>A (p.Asn41Lys)
3g.38477360C=CA1358528923ACVR2Bc.126C= (p.Asn42=)
n.3915C=
n.130C=
c.189C= (p.Asn63=)
c.168C= (p.Asn56=)
c.144C= (p.Asn48=)
c.123C= (p.Asn41=)
3g.38477360C>GCA352126225ACVR2Bc.126C>G (p.Asn42Lys)
n.3915C>G
n.130C>G
c.189C>G (p.Asn63Lys)
c.168C>G (p.Asn56Lys)
c.144C>G (p.Asn48Lys)
c.123C>G (p.Asn41Lys)
 gnomAD v4
3g.38477360C>TCA2318708ACVR2Bc.126C>T (p.Asn42=)
n.3915C>T
n.130C>T
c.189C>T (p.Asn63=)
c.168C>T (p.Asn56=)
c.144C>T (p.Asn48=)
c.123C>T (p.Asn41=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477361C>ACA352126231ACVR2Bc.127C>A (p.Gln43Lys)
n.3916C>A
n.131C>A
c.190C>A (p.Gln64Lys)
c.169C>A (p.Gln57Lys)
c.145C>A (p.Gln49Lys)
c.124C>A (p.Gln42Lys)
3g.38477361C>GCA352126230ACVR2Bc.127C>G (p.Gln43Glu)
n.3916C>G
n.131C>G
c.190C>G (p.Gln64Glu)
c.169C>G (p.Gln57Glu)
c.145C>G (p.Gln49Glu)
c.124C>G (p.Gln42Glu)
 gnomAD v4
3g.38477361C>TCA352126228ACVR2Bc.127C>T (p.Gln43Ter)
n.3916C>T
n.131C>T
c.190C>T (p.Gln64Ter)
c.169C>T (p.Gln57Ter)
c.145C>T (p.Gln49Ter)
c.124C>T (p.Gln42Ter)
3g.38477362A>CCA352126233ACVR2Bc.128A>C (p.Gln43Pro)
n.3917A>C
n.132A>C
c.191A>C (p.Gln64Pro)
c.170A>C (p.Gln57Pro)
c.146A>C (p.Gln49Pro)
c.125A>C (p.Gln42Pro)
3g.38477362A>GCA352126235ACVR2Bc.128A>G (p.Gln43Arg)
n.3917A>G
n.132A>G
c.191A>G (p.Gln64Arg)
c.170A>G (p.Gln57Arg)
c.146A>G (p.Gln49Arg)
c.125A>G (p.Gln42Arg)
3g.38477362A>TCA352126246ACVR2Bc.128A>T (p.Gln43Leu)
n.3917A>T
n.132A>T
c.191A>T (p.Gln64Leu)
c.170A>T (p.Gln57Leu)
c.146A>T (p.Gln49Leu)
c.125A>T (p.Gln42Leu)
3g.38477363G>ACA433137383ACVR2Bc.129G>A (p.Gln43=)
n.3918G>A
n.133G>A
c.192G>A (p.Gln64=)
c.171G>A (p.Gln57=)
c.147G>A (p.Gln49=)
c.126G>A (p.Gln42=)
 gnomAD v4
3g.38477363G>CCA352126249ACVR2Bc.129G>C (p.Gln43His)
n.3918G>C
n.133G>C
c.192G>C (p.Gln64His)
c.171G>C (p.Gln57His)
c.147G>C (p.Gln49His)
c.126G>C (p.Gln42His)
3g.38477363G>TCA352126250ACVR2Bc.129G>T (p.Gln43His)
n.3918G>T
n.133G>T
c.192G>T (p.Gln64His)
c.171G>T (p.Gln57His)
c.147G>T (p.Gln49His)
c.126G>T (p.Gln42His)
3g.38477364A>CCA352126261ACVR2Bc.130A>C (p.Ser44Arg)
n.3919A>C
n.134A>C
c.193A>C (p.Ser65Arg)
c.172A>C (p.Ser58Arg)
c.148A>C (p.Ser50Arg)
c.127A>C (p.Ser43Arg)
3g.38477364A>GCA352126258ACVR2Bc.130A>G (p.Ser44Gly)
n.3919A>G
n.134A>G
c.193A>G (p.Ser65Gly)
c.172A>G (p.Ser58Gly)
c.148A>G (p.Ser50Gly)
c.127A>G (p.Ser43Gly)
3g.38477364A>TCA352126253ACVR2Bc.130A>T (p.Ser44Cys)
n.3919A>T
n.134A>T
c.193A>T (p.Ser65Cys)
c.172A>T (p.Ser58Cys)
c.148A>T (p.Ser50Cys)
c.127A>T (p.Ser43Cys)
3g.38477365G>ACA352126264ACVR2Bc.131G>A (p.Ser44Asn)
n.3920G>A
n.135G>A
c.194G>A (p.Ser65Asn)
c.173G>A (p.Ser58Asn)
c.149G>A (p.Ser50Asn)
c.128G>A (p.Ser43Asn)
3g.38477365G>CCA352126265ACVR2Bc.131G>C (p.Ser44Thr)
n.3920G>C
n.135G>C
c.194G>C (p.Ser65Thr)
c.173G>C (p.Ser58Thr)
c.149G>C (p.Ser50Thr)
c.128G>C (p.Ser43Thr)
3g.38477365G>TCA352126268ACVR2Bc.131G>T (p.Ser44Ile)
n.3920G>T
n.135G>T
c.194G>T (p.Ser65Ile)
c.173G>T (p.Ser58Ile)
c.149G>T (p.Ser50Ile)
c.128G>T (p.Ser43Ile)
3g.38477366C>ACA352126271ACVR2Bc.132C>A (p.Ser44Arg)
n.3921C>A
n.136C>A
c.195C>A (p.Ser65Arg)
c.174C>A (p.Ser58Arg)
c.150C>A (p.Ser50Arg)
c.129C>A (p.Ser43Arg)
3g.38477366C=CA1358528924ACVR2Bc.132C= (p.Ser44=)
n.3921C=
n.136C=
c.195C= (p.Ser65=)
c.174C= (p.Ser58=)
c.150C= (p.Ser50=)
c.129C= (p.Ser43=)
3g.38477366C>GCA352126273ACVR2Bc.132C>G (p.Ser44Arg)
n.3921C>G
n.136C>G
c.195C>G (p.Ser65Arg)
c.174C>G (p.Ser58Arg)
c.150C>G (p.Ser50Arg)
c.129C>G (p.Ser43Arg)
3g.38477366C>TCA2318709ACVR2Bc.132C>T (p.Ser44=)
n.3921C>T
n.136C>T
c.195C>T (p.Ser65=)
c.174C>T (p.Ser58=)
c.150C>T (p.Ser50=)
c.129C>T (p.Ser43=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.38477367G>ACA352126278ACVR2Bc.133G>A (p.Gly45Ser)
n.3922G>A
n.137G>A
c.196G>A (p.Gly66Ser)
c.175G>A (p.Gly59Ser)
c.151G>A (p.Gly51Ser)
c.130G>A (p.Gly44Ser)
 gnomAD v4
3g.38477367G>CCA352126276ACVR2Bc.133G>C (p.Gly45Arg)
n.3922G>C
n.137G>C
c.196G>C (p.Gly66Arg)
c.175G>C (p.Gly59Arg)
c.151G>C (p.Gly51Arg)
c.130G>C (p.Gly44Arg)
 dbSNP gnomAD v4
3g.38477367G=CA1358528925ACVR2Bc.133G= (p.Gly45=)
n.3922G=
n.137G=
c.196G= (p.Gly66=)
c.175G= (p.Gly59=)
c.151G= (p.Gly51=)
c.130G= (p.Gly44=)
3g.38477367G>TCA352126277ACVR2Bc.133G>T (p.Gly45Cys)
n.3922G>T
n.137G>T
c.196G>T (p.Gly66Cys)
c.175G>T (p.Gly59Cys)
c.151G>T (p.Gly51Cys)
c.130G>T (p.Gly44Cys)
 COSMIC COSMIC
3g.38477368G>ACA2318710ACVR2Bc.134G>A (p.Gly45Asp)
n.3923G>A
n.138G>A
c.197G>A (p.Gly66Asp)
c.176G>A (p.Gly59Asp)
c.152G>A (p.Gly51Asp)
c.131G>A (p.Gly44Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38477368G>CCA352126279ACVR2Bc.134G>C (p.Gly45Ala)
n.3923G>C
n.138G>C
c.197G>C (p.Gly66Ala)
c.176G>C (p.Gly59Ala)
c.152G>C (p.Gly51Ala)
c.131G>C (p.Gly44Ala)
3g.38477368G=CA1358528926ACVR2Bc.134G= (p.Gly45=)
n.3923G=
n.138G=
c.197G= (p.Gly66=)
c.176G= (p.Gly59=)
c.152G= (p.Gly51=)
c.131G= (p.Gly44=)
3g.38477368G>TCA352126281ACVR2Bc.134G>T (p.Gly45Val)
n.3923G>T
n.138G>T
c.197G>T (p.Gly66Val)
c.176G>T (p.Gly59Val)
c.152G>T (p.Gly51Val)
c.131G>T (p.Gly44Val)
3g.38477369C>ACA433137385ACVR2Bc.135C>A (p.Gly45=)
n.3924C>A
n.139C>A
c.198C>A (p.Gly66=)
c.177C>A (p.Gly59=)
c.153C>A (p.Gly51=)
c.132C>A (p.Gly44=)
3g.38477369C=CA1358528927ACVR2Bc.135C= (p.Gly45=)
n.3924C=
n.139C=
c.198C= (p.Gly66=)
c.177C= (p.Gly59=)
c.153C= (p.Gly51=)
c.132C= (p.Gly44=)
3g.38477369C>GCA433137384ACVR2Bc.135C>G (p.Gly45=)
n.3924C>G
n.139C>G
c.198C>G (p.Gly66=)
c.177C>G (p.Gly59=)
c.153C>G (p.Gly51=)
c.132C>G (p.Gly44=)
3g.38477369C>TCA2318711ACVR2Bc.135C>T (p.Gly45=)
n.3924C>T
n.139C>T
c.198C>T (p.Gly66=)
c.177C>T (p.Gly59=)
c.153C>T (p.Gly51=)
c.132C>T (p.Gly44=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477370C>ACA352126284ACVR2Bc.136C>A (p.Leu46Met)
n.3925C>A
n.140C>A
c.199C>A (p.Leu67Met)
c.178C>A (p.Leu60Met)
c.154C>A (p.Leu52Met)
c.133C>A (p.Leu45Met)
3g.38477370C=CA1358528928ACVR2Bc.136C= (p.Leu46=)
n.3925C=
n.140C=
c.199C= (p.Leu67=)
c.178C= (p.Leu60=)
c.154C= (p.Leu52=)
c.133C= (p.Leu45=)
3g.38477370C>GCA352126285ACVR2Bc.136C>G (p.Leu46Val)
n.3925C>G
n.140C>G
c.199C>G (p.Leu67Val)
c.178C>G (p.Leu60Val)
c.154C>G (p.Leu52Val)
c.133C>G (p.Leu45Val)
3g.38477370C>TCA433137386ACVR2Bc.136C>T (p.Leu46=)
n.3925C>T
n.140C>T
c.199C>T (p.Leu67=)
c.178C>T (p.Leu60=)
c.154C>T (p.Leu52=)
c.133C>T (p.Leu45=)
 dbSNP gnomAD v2 gnomAD v4
3g.38477371T>ACA352126292ACVR2Bc.137T>A (p.Leu46Gln)
n.3926T>A
n.141T>A
c.200T>A (p.Leu67Gln)
c.179T>A (p.Leu60Gln)
c.155T>A (p.Leu52Gln)
c.134T>A (p.Leu45Gln)
 gnomAD v4
3g.38477371T>CCA352126295ACVR2Bc.137T>C (p.Leu46Pro)
n.3926T>C
n.141T>C
c.200T>C (p.Leu67Pro)
c.179T>C (p.Leu60Pro)
c.155T>C (p.Leu52Pro)
c.134T>C (p.Leu45Pro)
3g.38477371T>GCA352126296ACVR2Bc.137T>G (p.Leu46Arg)
n.3926T>G
n.141T>G
c.200T>G (p.Leu67Arg)
c.179T>G (p.Leu60Arg)
c.155T>G (p.Leu52Arg)
c.134T>G (p.Leu45Arg)
3g.38477372G>ACA433137387ACVR2Bc.138G>A (p.Leu46=)
n.3927G>A
n.142G>A
c.201G>A (p.Leu67=)
c.180G>A (p.Leu60=)
c.156G>A (p.Leu52=)
c.135G>A (p.Leu45=)
3g.38477372G>CCA433137389ACVR2Bc.138G>C (p.Leu46=)
n.3927G>C
n.142G>C
c.201G>C (p.Leu67=)
c.180G>C (p.Leu60=)
c.156G>C (p.Leu52=)
c.135G>C (p.Leu45=)
3g.38477372G>TCA433137388ACVR2Bc.138G>T (p.Leu46=)
n.3927G>T
n.142G>T
c.201G>T (p.Leu67=)
c.180G>T (p.Leu60=)
c.156G>T (p.Leu52=)
c.135G>T (p.Leu45=)
3g.38477373G>ACA352126301ACVR2Bc.139G>A (p.Glu47Lys)
n.3928G>A
n.143G>A
c.202G>A (p.Glu68Lys)
c.181G>A (p.Glu61Lys)
c.157G>A (p.Glu53Lys)
c.136G>A (p.Glu46Lys)
3g.38477373G>CCA352126303ACVR2Bc.139G>C (p.Glu47Gln)
n.3928G>C
n.143G>C
c.202G>C (p.Glu68Gln)
c.181G>C (p.Glu61Gln)
c.157G>C (p.Glu53Gln)
c.136G>C (p.Glu46Gln)
3g.38477373G>TCA352126306ACVR2Bc.139G>T (p.Glu47Ter)
n.3928G>T
n.143G>T
c.202G>T (p.Glu68Ter)
c.181G>T (p.Glu61Ter)
c.157G>T (p.Glu53Ter)
c.136G>T (p.Glu46Ter)
3g.38477377_38477391delCA2577552235ACVR2Bc.143_157del (p.Arg48_Glu52del)
n.3932_3946del
n.147_161del
c.206_220del (p.Arg69_Glu73del)
c.185_199del (p.Arg62_Glu66del)
c.161_175del (p.Arg54_Glu58del)
c.140_154del (p.Arg47_Glu51del)
3g.38477374A>CCA352126309ACVR2Bc.140A>C (p.Glu47Ala)
n.3929A>C
n.144A>C
c.203A>C (p.Glu68Ala)
c.182A>C (p.Glu61Ala)
c.158A>C (p.Glu53Ala)
c.137A>C (p.Glu46Ala)
3g.38477374A>GCA352126317ACVR2Bc.140A>G (p.Glu47Gly)
n.3929A>G
n.144A>G
c.203A>G (p.Glu68Gly)
c.182A>G (p.Glu61Gly)
c.158A>G (p.Glu53Gly)
c.137A>G (p.Glu46Gly)
3g.38477374A>TCA352126315ACVR2Bc.140A>T (p.Glu47Val)
n.3929A>T
n.144A>T
c.203A>T (p.Glu68Val)
c.182A>T (p.Glu61Val)
c.158A>T (p.Glu53Val)
c.137A>T (p.Glu46Val)
3g.38477375G>ACA433137390ACVR2Bc.141G>A (p.Glu47=)
n.3930G>A
n.145G>A
c.204G>A (p.Glu68=)
c.183G>A (p.Glu61=)
c.159G>A (p.Glu53=)
c.138G>A (p.Glu46=)
 dbSNP gnomAD v2 gnomAD v4
3g.38477375G>CCA352126319ACVR2Bc.141G>C (p.Glu47Asp)
n.3930G>C
n.145G>C
c.204G>C (p.Glu68Asp)
c.183G>C (p.Glu61Asp)
c.159G>C (p.Glu53Asp)
c.138G>C (p.Glu46Asp)
3g.38477375G=CA1358528929ACVR2Bc.141G= (p.Glu47=)
n.3930G=
n.145G=
c.204G= (p.Glu68=)
c.183G= (p.Glu61=)
c.159G= (p.Glu53=)
c.138G= (p.Glu46=)
3g.38477375G>TCA352126321ACVR2Bc.141G>T (p.Glu47Asp)
n.3930G>T
n.145G>T
c.204G>T (p.Glu68Asp)
c.183G>T (p.Glu61Asp)
c.159G>T (p.Glu53Asp)
c.138G>T (p.Glu46Asp)
3g.38477376C>ACA352126323ACVR2Bc.142C>A (p.Arg48Ser)
n.3931C>A
n.146C>A
c.205C>A (p.Arg69Ser)
c.184C>A (p.Arg62Ser)
c.160C>A (p.Arg54Ser)
c.139C>A (p.Arg47Ser)
3g.38477376C=CA1358528930ACVR2Bc.142C= (p.Arg48=)
n.3931C=
n.146C=
c.205C= (p.Arg69=)
c.184C= (p.Arg62=)
c.160C= (p.Arg54=)
c.139C= (p.Arg47=)
3g.38477376C>GCA352126325ACVR2Bc.142C>G (p.Arg48Gly)
n.3931C>G
n.146C>G
c.205C>G (p.Arg69Gly)
c.184C>G (p.Arg62Gly)
c.160C>G (p.Arg54Gly)
c.139C>G (p.Arg47Gly)
3g.38477376C>TCA72924045ACVR2Bc.142C>T (p.Arg48Cys)
n.3931C>T
n.146C>T
c.205C>T (p.Arg69Cys)
c.184C>T (p.Arg62Cys)
c.160C>T (p.Arg54Cys)
c.139C>T (p.Arg47Cys)
 dbSNP gnomAD v2 gnomAD v4
3g.38477377G>ACA2318712ACVR2Bc.143G>A (p.Arg48His)
n.3932G>A
n.147G>A
c.206G>A (p.Arg69His)
c.185G>A (p.Arg62His)
c.161G>A (p.Arg54His)
c.140G>A (p.Arg47His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477377G>CCA352126328ACVR2Bc.143G>C (p.Arg48Pro)
n.3932G>C
n.147G>C
c.206G>C (p.Arg69Pro)
c.185G>C (p.Arg62Pro)
c.161G>C (p.Arg54Pro)
c.140G>C (p.Arg47Pro)
3g.38477377G=CA1358528931ACVR2Bc.143G= (p.Arg48=)
n.3932G=
n.147G=
c.206G= (p.Arg69=)
c.185G= (p.Arg62=)
c.161G= (p.Arg54=)
c.140G= (p.Arg47=)
3g.38477377G>TCA2318713ACVR2Bc.143G>T (p.Arg48Leu)
n.3932G>T
n.147G>T
c.206G>T (p.Arg69Leu)
c.185G>T (p.Arg62Leu)
c.161G>T (p.Arg54Leu)
c.140G>T (p.Arg47Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477378C>ACA433137391ACVR2Bc.144C>A (p.Arg48=)
n.3933C>A
n.148C>A
c.207C>A (p.Arg69=)
c.186C>A (p.Arg62=)
c.162C>A (p.Arg54=)
c.141C>A (p.Arg47=)
3g.38477378C>GCA433137392ACVR2Bc.144C>G (p.Arg48=)
n.3933C>G
n.148C>G
c.207C>G (p.Arg69=)
c.186C>G (p.Arg62=)
c.162C>G (p.Arg54=)
c.141C>G (p.Arg47=)
3g.38477378C>TCA433137393ACVR2Bc.144C>T (p.Arg48=)
n.3933C>T
n.148C>T
c.207C>T (p.Arg69=)
c.186C>T (p.Arg62=)
c.162C>T (p.Arg54=)
c.141C>T (p.Arg47=)
3g.38477379T>ACA352126331ACVR2Bc.145T>A (p.Cys49Ser)
n.3934T>A
n.149T>A
c.208T>A (p.Cys70Ser)
c.187T>A (p.Cys63Ser)
c.163T>A (p.Cys55Ser)
c.142T>A (p.Cys48Ser)
3g.38477379T>CCA352126341ACVR2Bc.145T>C (p.Cys49Arg)
n.3934T>C
n.149T>C
c.208T>C (p.Cys70Arg)
c.187T>C (p.Cys63Arg)
c.163T>C (p.Cys55Arg)
c.142T>C (p.Cys48Arg)
3g.38477379T>GCA352126345ACVR2Bc.145T>G (p.Cys49Gly)
n.3934T>G
n.149T>G
c.208T>G (p.Cys70Gly)
c.187T>G (p.Cys63Gly)
c.163T>G (p.Cys55Gly)
c.142T>G (p.Cys48Gly)
3g.38477380G>ACA352126355ACVR2Bc.146G>A (p.Cys49Tyr)
n.3935G>A
n.150G>A
c.209G>A (p.Cys70Tyr)
c.188G>A (p.Cys63Tyr)
c.164G>A (p.Cys55Tyr)
c.143G>A (p.Cys48Tyr)
3g.38477380G>CCA352126351ACVR2Bc.146G>C (p.Cys49Ser)
n.3935G>C
n.150G>C
c.209G>C (p.Cys70Ser)
c.188G>C (p.Cys63Ser)
c.164G>C (p.Cys55Ser)
c.143G>C (p.Cys48Ser)
3g.38477380G>TCA352126349ACVR2Bc.146G>T (p.Cys49Phe)
n.3935G>T
n.150G>T
c.209G>T (p.Cys70Phe)
c.188G>T (p.Cys63Phe)
c.164G>T (p.Cys55Phe)
c.143G>T (p.Cys48Phe)
3g.38477381C>ACA352126363ACVR2Bc.147C>A (p.Cys49Ter)
n.3936C>A
n.151C>A
c.210C>A (p.Cys70Ter)
c.189C>A (p.Cys63Ter)
c.165C>A (p.Cys55Ter)
c.144C>A (p.Cys48Ter)
3g.38477381C=CA1358528932ACVR2Bc.147C= (p.Cys49=)
n.3936C=
n.151C=
c.210C= (p.Cys70=)
c.189C= (p.Cys63=)
c.165C= (p.Cys55=)
c.144C= (p.Cys48=)
3g.38477381C>GCA352126365ACVR2Bc.147C>G (p.Cys49Trp)
n.3936C>G
n.151C>G
c.210C>G (p.Cys70Trp)
c.189C>G (p.Cys63Trp)
c.165C>G (p.Cys55Trp)
c.144C>G (p.Cys48Trp)
3g.38477381C>TCA2318714ACVR2Bc.147C>T (p.Cys49=)
n.3936C>T
n.151C>T
c.210C>T (p.Cys70=)
c.189C>T (p.Cys63=)
c.165C>T (p.Cys55=)
c.144C>T (p.Cys48=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.38477382G>ACA2318715ACVR2Bc.148G>A (p.Glu50Lys)
n.3937G>A
n.152G>A
c.211G>A (p.Glu71Lys)
c.190G>A (p.Glu64Lys)
c.166G>A (p.Glu56Lys)
c.145G>A (p.Glu49Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38477382G>CCA352126371ACVR2Bc.148G>C (p.Glu50Gln)
n.3937G>C
n.152G>C
c.211G>C (p.Glu71Gln)
c.190G>C (p.Glu64Gln)
c.166G>C (p.Glu56Gln)
c.145G>C (p.Glu49Gln)
3g.38477382G=CA1358528933ACVR2Bc.148G= (p.Glu50=)
n.3937G=
n.152G=
c.211G= (p.Glu71=)
c.190G= (p.Glu64=)
c.166G= (p.Glu56=)
c.145G= (p.Glu49=)
3g.38477382G>TCA352126373ACVR2Bc.148G>T (p.Glu50Ter)
n.3937G>T
n.152G>T
c.211G>T (p.Glu71Ter)
c.190G>T (p.Glu64Ter)
c.166G>T (p.Glu56Ter)
c.145G>T (p.Glu49Ter)
3g.38477383A>CCA352126374ACVR2Bc.149A>C (p.Glu50Ala)
n.3938A>C
n.153A>C
c.212A>C (p.Glu71Ala)
c.191A>C (p.Glu64Ala)
c.167A>C (p.Glu56Ala)
c.146A>C (p.Glu49Ala)
3g.38477383A>GCA352126376ACVR2Bc.149A>G (p.Glu50Gly)
n.3938A>G
n.153A>G
c.212A>G (p.Glu71Gly)
c.191A>G (p.Glu64Gly)
c.167A>G (p.Glu56Gly)
c.146A>G (p.Glu49Gly)
3g.38477383A>TCA352126379ACVR2Bc.149A>T (p.Glu50Val)
n.3938A>T
n.153A>T
c.212A>T (p.Glu71Val)
c.191A>T (p.Glu64Val)
c.167A>T (p.Glu56Val)
c.146A>T (p.Glu49Val)
3g.38477384A>CCA352126386ACVR2Bc.150A>C (p.Glu50Asp)
n.3939A>C
n.154A>C
c.213A>C (p.Glu71Asp)
c.192A>C (p.Glu64Asp)
c.168A>C (p.Glu56Asp)
c.147A>C (p.Glu49Asp)
3g.38477384A>GCA433137394ACVR2Bc.150A>G (p.Glu50=)
n.3939A>G
n.154A>G
c.213A>G (p.Glu71=)
c.192A>G (p.Glu64=)
c.168A>G (p.Glu56=)
c.147A>G (p.Glu49=)
3g.38477384A>TCA352126390ACVR2Bc.150A>T (p.Glu50Asp)
n.3939A>T
n.154A>T
c.213A>T (p.Glu71Asp)
c.192A>T (p.Glu64Asp)
c.168A>T (p.Glu56Asp)
c.147A>T (p.Glu49Asp)
3g.38477385G>ACA352126400ACVR2Bc.151G>A (p.Gly51Ser)
n.3940G>A
n.155G>A
c.214G>A (p.Gly72Ser)
c.193G>A (p.Gly65Ser)
c.169G>A (p.Gly57Ser)
c.148G>A (p.Gly50Ser)
3g.38477385G>CCA352126396ACVR2Bc.151G>C (p.Gly51Arg)
n.3940G>C
n.155G>C
c.214G>C (p.Gly72Arg)
c.193G>C (p.Gly65Arg)
c.169G>C (p.Gly57Arg)
c.148G>C (p.Gly50Arg)
3g.38477385G>TCA352126394ACVR2Bc.151G>T (p.Gly51Cys)
n.3940G>T
n.155G>T
c.214G>T (p.Gly72Cys)
c.193G>T (p.Gly65Cys)
c.169G>T (p.Gly57Cys)
c.148G>T (p.Gly50Cys)
3g.38477386G>ACA2318716ACVR2Bc.152G>A (p.Gly51Asp)
n.3941G>A
n.156G>A
c.215G>A (p.Gly72Asp)
c.194G>A (p.Gly65Asp)
c.170G>A (p.Gly57Asp)
c.149G>A (p.Gly50Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477386G>CCA352126402ACVR2Bc.152G>C (p.Gly51Ala)
n.3941G>C
n.156G>C
c.215G>C (p.Gly72Ala)
c.194G>C (p.Gly65Ala)
c.170G>C (p.Gly57Ala)
c.149G>C (p.Gly50Ala)
3g.38477386G=CA1358528934ACVR2Bc.152G= (p.Gly51=)
n.3941G=
n.156G=
c.215G= (p.Gly72=)
c.194G= (p.Gly65=)
c.170G= (p.Gly57=)
c.149G= (p.Gly50=)
3g.38477386G>TCA352126403ACVR2Bc.152G>T (p.Gly51Val)
n.3941G>T
n.156G>T
c.215G>T (p.Gly72Val)
c.194G>T (p.Gly65Val)
c.170G>T (p.Gly57Val)
c.149G>T (p.Gly50Val)
3g.38477387C>ACA433137395ACVR2Bc.153C>A (p.Gly51=)
n.3942C>A
n.157C>A
c.216C>A (p.Gly72=)
c.195C>A (p.Gly65=)
c.171C>A (p.Gly57=)
c.150C>A (p.Gly50=)
 dbSNP gnomAD v3 gnomAD v4
3g.38477387C=CA1358528935ACVR2Bc.153C= (p.Gly51=)
n.3942C=
n.157C=
c.216C= (p.Gly72=)
c.195C= (p.Gly65=)
c.171C= (p.Gly57=)
c.150C= (p.Gly50=)
3g.38477387C>GCA2318718ACVR2Bc.153C>G (p.Gly51=)
n.3942C>G
n.157C>G
c.216C>G (p.Gly72=)
c.195C>G (p.Gly65=)
c.171C>G (p.Gly57=)
c.150C>G (p.Gly50=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477387C>TCA2318717ACVR2Bc.153C>T (p.Gly51=)
n.3942C>T
n.157C>T
c.216C>T (p.Gly72=)
c.195C>T (p.Gly65=)
c.171C>T (p.Gly57=)
c.150C>T (p.Gly50=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477388G>ACA2318719ACVR2Bc.154G>A (p.Glu52Lys)
n.3943G>A
n.158G>A
c.217G>A (p.Glu73Lys)
c.196G>A (p.Glu66Lys)
c.172G>A (p.Glu58Lys)
c.151G>A (p.Glu51Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477388G>CCA352126410ACVR2Bc.154G>C (p.Glu52Gln)
n.3943G>C
n.158G>C
c.217G>C (p.Glu73Gln)
c.196G>C (p.Glu66Gln)
c.172G>C (p.Glu58Gln)
c.151G>C (p.Glu51Gln)
3g.38477388G=CA1358528936ACVR2Bc.154G= (p.Glu52=)
n.3943G=
n.158G=
c.217G= (p.Glu73=)
c.196G= (p.Glu66=)
c.172G= (p.Glu58=)
c.151G= (p.Glu51=)
3g.38477388G>TCA352126411ACVR2Bc.154G>T (p.Glu52Ter)
n.3943G>T
n.158G>T
c.217G>T (p.Glu73Ter)
c.196G>T (p.Glu66Ter)
c.172G>T (p.Glu58Ter)
c.151G>T (p.Glu51Ter)
3g.38477389A>CCA352126412ACVR2Bc.155A>C (p.Glu52Ala)
n.3944A>C
n.159A>C
c.218A>C (p.Glu73Ala)
c.197A>C (p.Glu66Ala)
c.173A>C (p.Glu58Ala)
c.152A>C (p.Glu51Ala)
3g.38477389A>GCA352126423ACVR2Bc.155A>G (p.Glu52Gly)
n.3944A>G
n.159A>G
c.218A>G (p.Glu73Gly)
c.197A>G (p.Glu66Gly)
c.173A>G (p.Glu58Gly)
c.152A>G (p.Glu51Gly)
3g.38477389A>TCA352126414ACVR2Bc.155A>T (p.Glu52Val)
n.3944A>T
n.159A>T
c.218A>T (p.Glu73Val)
c.197A>T (p.Glu66Val)
c.173A>T (p.Glu58Val)
c.152A>T (p.Glu51Val)
3g.38477390G>ACA433137396ACVR2Bc.156G>A (p.Glu52=)
n.3945G>A
n.160G>A
c.219G>A (p.Glu73=)
c.198G>A (p.Glu66=)
c.174G>A (p.Glu58=)
c.153G>A (p.Glu51=)
 dbSNP gnomAD v2 gnomAD v4
3g.38477390G>CCA352126427ACVR2Bc.156G>C (p.Glu52Asp)
n.3945G>C
n.160G>C
c.219G>C (p.Glu73Asp)
c.198G>C (p.Glu66Asp)
c.174G>C (p.Glu58Asp)
c.153G>C (p.Glu51Asp)
3g.38477390G=CA1358528937ACVR2Bc.156G= (p.Glu52=)
n.3945G=
n.160G=
c.219G= (p.Glu73=)
c.198G= (p.Glu66=)
c.174G= (p.Glu58=)
c.153G= (p.Glu51=)
3g.38477390G>TCA352126430ACVR2Bc.156G>T (p.Glu52Asp)
n.3945G>T
n.160G>T
c.219G>T (p.Glu73Asp)
c.198G>T (p.Glu66Asp)
c.174G>T (p.Glu58Asp)
c.153G>T (p.Glu51Asp)
3g.38477391C>ACA352126433ACVR2Bc.157C>A (p.Gln53Lys)
n.3946C>A
n.161C>A
c.220C>A (p.Gln74Lys)
c.199C>A (p.Gln67Lys)
c.175C>A (p.Gln59Lys)
c.154C>A (p.Gln52Lys)
3g.38477391C=CA1358528938ACVR2Bc.157C= (p.Gln53=)
n.3946C=
n.161C=
c.220C= (p.Gln74=)
c.199C= (p.Gln67=)
c.175C= (p.Gln59=)
c.154C= (p.Gln52=)
3g.38477391C>GCA352126436ACVR2Bc.157C>G (p.Gln53Glu)
n.3946C>G
n.161C>G
c.220C>G (p.Gln74Glu)
c.199C>G (p.Gln67Glu)
c.175C>G (p.Gln59Glu)
c.154C>G (p.Gln52Glu)
3g.38477391C>TCA352126439ACVR2Bc.157C>T (p.Gln53Ter)
n.3946C>T
n.161C>T
c.220C>T (p.Gln74Ter)
c.199C>T (p.Gln67Ter)
c.175C>T (p.Gln59Ter)
c.154C>T (p.Gln52Ter)
 dbSNP
3g.38477392A=CA1358528939ACVR2Bc.158A= (p.Gln53=)
n.3947A=
n.162A=
c.221A= (p.Gln74=)
c.200A= (p.Gln67=)
c.176A= (p.Gln59=)
c.155A= (p.Gln52=)
3g.38477392A>CCA352126450ACVR2Bc.158A>C (p.Gln53Pro)
n.3947A>C
n.162A>C
c.221A>C (p.Gln74Pro)
c.200A>C (p.Gln67Pro)
c.176A>C (p.Gln59Pro)
c.155A>C (p.Gln52Pro)
3g.38477392A>GCA72924059ACVR2Bc.158A>G (p.Gln53Arg)
n.3947A>G
n.162A>G
c.221A>G (p.Gln74Arg)
c.200A>G (p.Gln67Arg)
c.176A>G (p.Gln59Arg)
c.155A>G (p.Gln52Arg)
 dbSNP
3g.38477392A>TCA352126459ACVR2Bc.158A>T (p.Gln53Leu)
n.3947A>T
n.162A>T
c.221A>T (p.Gln74Leu)
c.200A>T (p.Gln67Leu)
c.176A>T (p.Gln59Leu)
c.155A>T (p.Gln52Leu)
3g.38477393G>ACA2318720ACVR2Bc.159G>A (p.Gln53=)
n.3948G>A
n.163G>A
c.222G>A (p.Gln74=)
c.201G>A (p.Gln67=)
c.177G>A (p.Gln59=)
c.156G>A (p.Gln52=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477393G>CCA352126464ACVR2Bc.159G>C (p.Gln53His)
n.3948G>C
n.163G>C
c.222G>C (p.Gln74His)
c.201G>C (p.Gln67His)
c.177G>C (p.Gln59His)
c.156G>C (p.Gln52His)
3g.38477393G=CA1358528940ACVR2Bc.159G= (p.Gln53=)
n.3948G=
n.163G=
c.222G= (p.Gln74=)
c.201G= (p.Gln67=)
c.177G= (p.Gln59=)
c.156G= (p.Gln52=)
3g.38477393G>TCA352126465ACVR2Bc.159G>T (p.Gln53His)
n.3948G>T
n.163G>T
c.222G>T (p.Gln74His)
c.201G>T (p.Gln67His)
c.177G>T (p.Gln59His)
c.156G>T (p.Gln52His)
3g.38477394G>ACA352126466ACVR2Bc.160G>A (p.Asp54Asn)
n.3949G>A
n.164G>A
c.223G>A (p.Asp75Asn)
c.202G>A (p.Asp68Asn)
c.178G>A (p.Asp60Asn)
c.157G>A (p.Asp53Asn)
3g.38477394G>CCA352126467ACVR2Bc.160G>C (p.Asp54His)
n.3949G>C
n.164G>C
c.223G>C (p.Asp75His)
c.202G>C (p.Asp68His)
c.178G>C (p.Asp60His)
c.157G>C (p.Asp53His)
3g.38477394G>TCA352126469ACVR2Bc.160G>T (p.Asp54Tyr)
n.3949G>T
n.164G>T
c.223G>T (p.Asp75Tyr)
c.202G>T (p.Asp68Tyr)
c.178G>T (p.Asp60Tyr)
c.157G>T (p.Asp53Tyr)
3g.38477395A>CCA352126472ACVR2Bc.161A>C (p.Asp54Ala)
n.3950A>C
n.165A>C
c.224A>C (p.Asp75Ala)
c.203A>C (p.Asp68Ala)
c.179A>C (p.Asp60Ala)
c.158A>C (p.Asp53Ala)
3g.38477395A>GCA352126474ACVR2Bc.161A>G (p.Asp54Gly)
n.3950A>G
n.165A>G
c.224A>G (p.Asp75Gly)
c.203A>G (p.Asp68Gly)
c.179A>G (p.Asp60Gly)
c.158A>G (p.Asp53Gly)
3g.38477395A>TCA352126475ACVR2Bc.161A>T (p.Asp54Val)
n.3950A>T
n.165A>T
c.224A>T (p.Asp75Val)
c.203A>T (p.Asp68Val)
c.179A>T (p.Asp60Val)
c.158A>T (p.Asp53Val)
3g.38477396C>ACA352126476ACVR2Bc.162C>A (p.Asp54Glu)
n.3951C>A
n.166C>A
c.225C>A (p.Asp75Glu)
c.204C>A (p.Asp68Glu)
c.180C>A (p.Asp60Glu)
c.159C>A (p.Asp53Glu)
3g.38477396C=CA1358528941ACVR2Bc.162C= (p.Asp54=)
n.3951C=
n.166C=
c.225C= (p.Asp75=)
c.204C= (p.Asp68=)
c.180C= (p.Asp60=)
c.159C= (p.Asp53=)
3g.38477396C>GCA352126479ACVR2Bc.162C>G (p.Asp54Glu)
n.3951C>G
n.166C>G
c.225C>G (p.Asp75Glu)
c.204C>G (p.Asp68Glu)
c.180C>G (p.Asp60Glu)
c.159C>G (p.Asp53Glu)
 dbSNP gnomAD v3 gnomAD v4
3g.38477396C>TCA2318721ACVR2Bc.162C>T (p.Asp54=)
n.3951C>T
n.166C>T
c.225C>T (p.Asp75=)
c.204C>T (p.Asp68=)
c.180C>T (p.Asp60=)
c.159C>T (p.Asp53=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477397A=CA1358528942ACVR2Bc.163A= (p.Lys55=)
n.3952A=
n.167A=
c.226A= (p.Lys76=)
c.205A= (p.Lys69=)
c.181A= (p.Lys61=)
c.160A= (p.Lys54=)
3g.38477397A>CCA352126488ACVR2Bc.163A>C (p.Lys55Gln)
n.3952A>C
n.167A>C
c.226A>C (p.Lys76Gln)
c.205A>C (p.Lys69Gln)
c.181A>C (p.Lys61Gln)
c.160A>C (p.Lys54Gln)
 gnomAD v4
3g.38477397A>GCA2318722ACVR2Bc.163A>G (p.Lys55Glu)
n.3952A>G
n.167A>G
c.226A>G (p.Lys76Glu)
c.205A>G (p.Lys69Glu)
c.181A>G (p.Lys61Glu)
c.160A>G (p.Lys54Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477397A>TCA352126492ACVR2Bc.163A>T (p.Lys55Ter)
n.3952A>T
n.167A>T
c.226A>T (p.Lys76Ter)
c.205A>T (p.Lys69Ter)
c.181A>T (p.Lys61Ter)
c.160A>T (p.Lys54Ter)
3g.38477398dupCA2665095596ACVR2Bc.164dup (p.Arg56AlafsTer26)
n.3953dup
n.168dup
c.227dup (p.Arg77AlafsTer26)
c.206dup (p.Arg70AlafsTer26)
c.182dup (p.Arg62AlafsTer26)
c.161dup (p.Arg55AlafsTer26)
 gnomAD v4
3g.38477398A=CA1358528943ACVR2Bc.164A= (p.Lys55=)
n.3953A=
n.168A=
c.227A= (p.Lys76=)
c.206A= (p.Lys69=)
c.182A= (p.Lys61=)
c.161A= (p.Lys54=)
3g.38477398A>CCA72924064ACVR2Bc.164A>C (p.Lys55Thr)
n.3953A>C
n.168A>C
c.227A>C (p.Lys76Thr)
c.206A>C (p.Lys69Thr)
c.182A>C (p.Lys61Thr)
c.161A>C (p.Lys54Thr)
 dbSNP gnomAD v4
3g.38477398A>GCA352126501ACVR2Bc.164A>G (p.Lys55Arg)
n.3953A>G
n.168A>G
c.227A>G (p.Lys76Arg)
c.206A>G (p.Lys69Arg)
c.182A>G (p.Lys61Arg)
c.161A>G (p.Lys54Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38477398A>TCA72924067ACVR2Bc.164A>T (p.Lys55Met)
n.3953A>T
n.168A>T
c.227A>T (p.Lys76Met)
c.206A>T (p.Lys69Met)
c.182A>T (p.Lys61Met)
c.161A>T (p.Lys54Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38477399G>ACA2318723ACVR2Bc.165G>A (p.Lys55=)
n.3954G>A
n.169G>A
c.228G>A (p.Lys76=)
c.207G>A (p.Lys69=)
c.183G>A (p.Lys61=)
c.162G>A (p.Lys54=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477399G>CCA352126509ACVR2Bc.165G>C (p.Lys55Asn)
n.3954G>C
n.169G>C
c.228G>C (p.Lys76Asn)
c.207G>C (p.Lys69Asn)
c.183G>C (p.Lys61Asn)
c.162G>C (p.Lys54Asn)
 gnomAD v4
3g.38477399G=CA1358528944ACVR2Bc.165G= (p.Lys55=)
n.3954G=
n.169G=
c.228G= (p.Lys76=)
c.207G= (p.Lys69=)
c.183G= (p.Lys61=)
c.162G= (p.Lys54=)
3g.38477399G>TCA352126512ACVR2Bc.165G>T (p.Lys55Asn)
n.3954G>T
n.169G>T
c.228G>T (p.Lys76Asn)
c.207G>T (p.Lys69Asn)
c.183G>T (p.Lys61Asn)
c.162G>T (p.Lys54Asn)
 gnomAD v4
3g.38477400C>ACA433137397ACVR2Bc.166C>A (p.Arg56=)
n.3955C>A
n.170C>A
c.229C>A (p.Arg77=)
c.208C>A (p.Arg70=)
c.184C>A (p.Arg62=)
c.163C>A (p.Arg55=)
3g.38477400C>GCA352126522ACVR2Bc.166C>G (p.Arg56Gly)
n.3955C>G
n.170C>G
c.229C>G (p.Arg77Gly)
c.208C>G (p.Arg70Gly)
c.184C>G (p.Arg62Gly)
c.163C>G (p.Arg55Gly)
3g.38477400C>TCA352126524ACVR2Bc.166C>T (p.Arg56Trp)
n.3955C>T
n.170C>T
c.229C>T (p.Arg77Trp)
c.208C>T (p.Arg70Trp)
c.184C>T (p.Arg62Trp)
c.163C>T (p.Arg55Trp)
 gnomAD v4
3g.38477401G>ACA2318724ACVR2Bc.167G>A (p.Arg56Gln)
n.3956G>A
n.171G>A
c.230G>A (p.Arg77Gln)
c.209G>A (p.Arg70Gln)
c.185G>A (p.Arg62Gln)
c.164G>A (p.Arg55Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477401G>CCA352126526ACVR2Bc.167G>C (p.Arg56Pro)
n.3956G>C
n.171G>C
c.230G>C (p.Arg77Pro)
c.209G>C (p.Arg70Pro)
c.185G>C (p.Arg62Pro)
c.164G>C (p.Arg55Pro)
3g.38477401G=CA1358528945ACVR2Bc.167G= (p.Arg56=)
n.3956G=
n.171G=
c.230G= (p.Arg77=)
c.209G= (p.Arg70=)
c.185G= (p.Arg62=)
c.164G= (p.Arg55=)
3g.38477401G>TCA352126527ACVR2Bc.167G>T (p.Arg56Leu)
n.3956G>T
n.171G>T
c.230G>T (p.Arg77Leu)
c.209G>T (p.Arg70Leu)
c.185G>T (p.Arg62Leu)
c.164G>T (p.Arg55Leu)
3g.38477402G>ACA433137399ACVR2Bc.168G>A (p.Arg56=)
n.3957G>A
n.172G>A
c.231G>A (p.Arg77=)
c.210G>A (p.Arg70=)
c.186G>A (p.Arg62=)
c.165G>A (p.Arg55=)
3g.38477402G>CCA433137400ACVR2Bc.168G>C (p.Arg56=)
n.3957G>C
n.172G>C
c.231G>C (p.Arg77=)
c.210G>C (p.Arg70=)
c.186G>C (p.Arg62=)
c.165G>C (p.Arg55=)
3g.38477402G>TCA433137401ACVR2Bc.168G>T (p.Arg56=)
n.3957G>T
n.172G>T
c.231G>T (p.Arg77=)
c.210G>T (p.Arg70=)
c.186G>T (p.Arg62=)
c.165G>T (p.Arg55=)
3g.38477403C>ACA352126528ACVR2Bc.169C>A (p.Leu57Met)
n.3958C>A
n.173C>A
c.232C>A (p.Leu78Met)
c.211C>A (p.Leu71Met)
c.187C>A (p.Leu63Met)
c.166C>A (p.Leu56Met)
 dbSNP gnomAD v2 gnomAD v4
3g.38477403C=CA1358528946ACVR2Bc.169C= (p.Leu57=)
n.3958C=
n.173C=
c.232C= (p.Leu78=)
c.211C= (p.Leu71=)
c.187C= (p.Leu63=)
c.166C= (p.Leu56=)
3g.38477403C>GCA352126529ACVR2Bc.169C>G (p.Leu57Val)
n.3958C>G
n.173C>G
c.232C>G (p.Leu78Val)
c.211C>G (p.Leu71Val)
c.187C>G (p.Leu63Val)
c.166C>G (p.Leu56Val)
3g.38477403C>TCA433137402ACVR2Bc.169C>T (p.Leu57=)
n.3958C>T
n.173C>T
c.232C>T (p.Leu78=)
c.211C>T (p.Leu71=)
c.187C>T (p.Leu63=)
c.166C>T (p.Leu56=)
3g.38477404T>ACA352126532ACVR2Bc.170T>A (p.Leu57Gln)
n.3959T>A
n.174T>A
c.233T>A (p.Leu78Gln)
c.212T>A (p.Leu71Gln)
c.188T>A (p.Leu63Gln)
c.167T>A (p.Leu56Gln)
3g.38477404T>CCA352126530ACVR2Bc.170T>C (p.Leu57Pro)
n.3959T>C
n.174T>C
c.233T>C (p.Leu78Pro)
c.212T>C (p.Leu71Pro)
c.188T>C (p.Leu63Pro)
c.167T>C (p.Leu56Pro)
3g.38477404T>GCA352126531ACVR2Bc.170T>G (p.Leu57Arg)
n.3959T>G
n.174T>G
c.233T>G (p.Leu78Arg)
c.212T>G (p.Leu71Arg)
c.188T>G (p.Leu63Arg)
c.167T>G (p.Leu56Arg)
3g.38477405G>ACA433137406ACVR2Bc.171G>A (p.Leu57=)
n.3960G>A
n.175G>A
c.234G>A (p.Leu78=)
c.213G>A (p.Leu71=)
c.189G>A (p.Leu63=)
c.168G>A (p.Leu56=)
 gnomAD v4
3g.38477405G>CCA433137407ACVR2Bc.171G>C (p.Leu57=)
n.3960G>C
n.175G>C
c.234G>C (p.Leu78=)
c.213G>C (p.Leu71=)
c.189G>C (p.Leu63=)
c.168G>C (p.Leu56=)
3g.38477405G>TCA433137408ACVR2Bc.171G>T (p.Leu57=)
n.3960G>T
n.175G>T
c.234G>T (p.Leu78=)
c.213G>T (p.Leu71=)
c.189G>T (p.Leu63=)
c.168G>T (p.Leu56=)
3g.38477406C>ACA352126534ACVR2Bc.172C>A (p.His58Asn)
n.3961C>A
n.176C>A
c.235C>A (p.His79Asn)
c.214C>A (p.His72Asn)
c.190C>A (p.His64Asn)
c.169C>A (p.His57Asn)
3g.38477406C=CA1358528947ACVR2Bc.172C= (p.His58=)
n.3961C=
n.176C=
c.235C= (p.His79=)
c.214C= (p.His72=)
c.190C= (p.His64=)
c.169C= (p.His57=)
3g.38477406C>GCA352126535ACVR2Bc.172C>G (p.His58Asp)
n.3961C>G
n.176C>G
c.235C>G (p.His79Asp)
c.214C>G (p.His72Asp)
c.190C>G (p.His64Asp)
c.169C>G (p.His57Asp)
 dbSNP
3g.38477406C>TCA352126537ACVR2Bc.172C>T (p.His58Tyr)
n.3961C>T
n.176C>T
c.235C>T (p.His79Tyr)
c.214C>T (p.His72Tyr)
c.190C>T (p.His64Tyr)
c.169C>T (p.His57Tyr)
3g.38477407A=CA1358528948ACVR2Bc.173A= (p.His58=)
n.3962A=
n.177A=
c.236A= (p.His79=)
c.215A= (p.His72=)
c.191A= (p.His64=)
c.170A= (p.His57=)
3g.38477407A>CCA352126539ACVR2Bc.173A>C (p.His58Pro)
n.3962A>C
n.177A>C
c.236A>C (p.His79Pro)
c.215A>C (p.His72Pro)
c.191A>C (p.His64Pro)
c.170A>C (p.His57Pro)
 dbSNP
3g.38477407A>GCA352126540ACVR2Bc.173A>G (p.His58Arg)
n.3962A>G
n.177A>G
c.236A>G (p.His79Arg)
c.215A>G (p.His72Arg)
c.191A>G (p.His64Arg)
c.170A>G (p.His57Arg)
 gnomAD v4
3g.38477407A>TCA352126542ACVR2Bc.173A>T (p.His58Leu)
n.3962A>T
n.177A>T
c.236A>T (p.His79Leu)
c.215A>T (p.His72Leu)
c.191A>T (p.His64Leu)
c.170A>T (p.His57Leu)
3g.38477408C>ACA352126544ACVR2Bc.174C>A (p.His58Gln)
n.3963C>A
n.178C>A
c.237C>A (p.His79Gln)
c.216C>A (p.His72Gln)
c.192C>A (p.His64Gln)
c.171C>A (p.His57Gln)
3g.38477408C>GCA352126545ACVR2Bc.174C>G (p.His58Gln)
n.3963C>G
n.178C>G
c.237C>G (p.His79Gln)
c.216C>G (p.His72Gln)
c.192C>G (p.His64Gln)
c.171C>G (p.His57Gln)
3g.38477408C>TCA433137411ACVR2Bc.174C>T (p.His58=)
n.3963C>T
n.178C>T
c.237C>T (p.His79=)
c.216C>T (p.His72=)
c.192C>T (p.His64=)
c.171C>T (p.His57=)
3g.38477409T>ACA352126548ACVR2Bc.175T>A (p.Cys59Ser)
n.3964T>A
n.179T>A
c.238T>A (p.Cys80Ser)
c.217T>A (p.Cys73Ser)
c.193T>A (p.Cys65Ser)
c.172T>A (p.Cys58Ser)
 gnomAD v4
3g.38477409T>CCA352126549ACVR2Bc.175T>C (p.Cys59Arg)
n.3964T>C
n.179T>C
c.238T>C (p.Cys80Arg)
c.217T>C (p.Cys73Arg)
c.193T>C (p.Cys65Arg)
c.172T>C (p.Cys58Arg)
3g.38477409T>GCA352126551ACVR2Bc.175T>G (p.Cys59Gly)
n.3964T>G
n.179T>G
c.238T>G (p.Cys80Gly)
c.217T>G (p.Cys73Gly)
c.193T>G (p.Cys65Gly)
c.172T>G (p.Cys58Gly)
3g.38477410G>ACA352126562ACVR2Bc.176G>A (p.Cys59Tyr)
n.3965G>A
n.180G>A
c.239G>A (p.Cys80Tyr)
c.218G>A (p.Cys73Tyr)
c.194G>A (p.Cys65Tyr)
c.173G>A (p.Cys58Tyr)
3g.38477410G>CCA352126569ACVR2Bc.176G>C (p.Cys59Ser)
n.3965G>C
n.180G>C
c.239G>C (p.Cys80Ser)
c.218G>C (p.Cys73Ser)
c.194G>C (p.Cys65Ser)
c.173G>C (p.Cys58Ser)
3g.38477410G>TCA352126565ACVR2Bc.176G>T (p.Cys59Phe)
n.3965G>T
n.180G>T
c.239G>T (p.Cys80Phe)
c.218G>T (p.Cys73Phe)
c.194G>T (p.Cys65Phe)
c.173G>T (p.Cys58Phe)
3g.38477411C>ACA352126571ACVR2Bc.177C>A (p.Cys59Ter)
n.3966C>A
n.181C>A
c.240C>A (p.Cys80Ter)
c.219C>A (p.Cys73Ter)
c.195C>A (p.Cys65Ter)
c.174C>A (p.Cys58Ter)
3g.38477411C=CA1358528949ACVR2Bc.177C= (p.Cys59=)
n.3966C=
n.181C=
c.240C= (p.Cys80=)
c.219C= (p.Cys73=)
c.195C= (p.Cys65=)
c.174C= (p.Cys58=)
3g.38477411C>GCA352126574ACVR2Bc.177C>G (p.Cys59Trp)
n.3966C>G
n.181C>G
c.240C>G (p.Cys80Trp)
c.219C>G (p.Cys73Trp)
c.195C>G (p.Cys65Trp)
c.174C>G (p.Cys58Trp)
3g.38477411C>TCA433137413ACVR2Bc.177C>T (p.Cys59=)
n.3966C>T
n.181C>T
c.240C>T (p.Cys80=)
c.219C>T (p.Cys73=)
c.195C>T (p.Cys65=)
c.174C>T (p.Cys58=)
 ClinVar dbSNP
3g.38477412T>ACA352126578ACVR2Bc.178T>A (p.Tyr60Asn)
n.3967T>A
n.182T>A
c.241T>A (p.Tyr81Asn)
c.220T>A (p.Tyr74Asn)
c.196T>A (p.Tyr66Asn)
c.175T>A (p.Tyr59Asn)
3g.38477412T>CCA352126581ACVR2Bc.178T>C (p.Tyr60His)
n.3967T>C
n.182T>C
c.241T>C (p.Tyr81His)
c.220T>C (p.Tyr74His)
c.196T>C (p.Tyr66His)
c.175T>C (p.Tyr59His)
3g.38477412T>GCA352126582ACVR2Bc.178T>G (p.Tyr60Asp)
n.3967T>G
n.182T>G
c.241T>G (p.Tyr81Asp)
c.220T>G (p.Tyr74Asp)
c.196T>G (p.Tyr66Asp)
c.175T>G (p.Tyr59Asp)
3g.38477413A>CCA352126583ACVR2Bc.179A>C (p.Tyr60Ser)
n.3968A>C
n.183A>C
c.242A>C (p.Tyr81Ser)
c.221A>C (p.Tyr74Ser)
c.197A>C (p.Tyr66Ser)
c.176A>C (p.Tyr59Ser)
3g.38477413A>GCA352126584ACVR2Bc.179A>G (p.Tyr60Cys)
n.3968A>G
n.183A>G
c.242A>G (p.Tyr81Cys)
c.221A>G (p.Tyr74Cys)
c.197A>G (p.Tyr66Cys)
c.176A>G (p.Tyr59Cys)
3g.38477413A>TCA352126587ACVR2Bc.179A>T (p.Tyr60Phe)
n.3968A>T
n.183A>T
c.242A>T (p.Tyr81Phe)
c.221A>T (p.Tyr74Phe)
c.197A>T (p.Tyr66Phe)
c.176A>T (p.Tyr59Phe)
3g.38477414C>ACA352126590ACVR2Bc.180C>A (p.Tyr60Ter)
n.3969C>A
n.184C>A
c.243C>A (p.Tyr81Ter)
c.222C>A (p.Tyr74Ter)
c.198C>A (p.Tyr66Ter)
c.177C>A (p.Tyr59Ter)
3g.38477414C=CA1358528950ACVR2Bc.180C= (p.Tyr60=)
n.3969C=
n.184C=
c.243C= (p.Tyr81=)
c.222C= (p.Tyr74=)
c.198C= (p.Tyr66=)
c.177C= (p.Tyr59=)
3g.38477414C>GCA352126593ACVR2Bc.180C>G (p.Tyr60Ter)
n.3969C>G
n.184C>G
c.243C>G (p.Tyr81Ter)
c.222C>G (p.Tyr74Ter)
c.198C>G (p.Tyr66Ter)
c.177C>G (p.Tyr59Ter)
3g.38477414C>TCA2318725ACVR2Bc.180C>T (p.Tyr60=)
n.3969C>T
n.184C>T
c.243C>T (p.Tyr81=)
c.222C>T (p.Tyr74=)
c.198C>T (p.Tyr66=)
c.177C>T (p.Tyr59=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477415G>ACA352126600ACVR2Bc.181G>A (p.Ala61Thr)
n.3970G>A
n.185G>A
c.244G>A (p.Ala82Thr)
c.223G>A (p.Ala75Thr)
c.199G>A (p.Ala67Thr)
c.178G>A (p.Ala60Thr)
 gnomAD v4 COSMIC COSMIC
3g.38477415G>CCA352126607ACVR2Bc.181G>C (p.Ala61Pro)
n.3970G>C
n.185G>C
c.244G>C (p.Ala82Pro)
c.223G>C (p.Ala75Pro)
c.199G>C (p.Ala67Pro)
c.178G>C (p.Ala60Pro)
3g.38477415G>TCA352126610ACVR2Bc.181G>T (p.Ala61Ser)
n.3970G>T
n.185G>T
c.244G>T (p.Ala82Ser)
c.223G>T (p.Ala75Ser)
c.199G>T (p.Ala67Ser)
c.178G>T (p.Ala60Ser)
3g.38477416C>ACA352126616ACVR2Bc.182C>A (p.Ala61Asp)
n.3971C>A
n.186C>A
c.245C>A (p.Ala82Asp)
c.224C>A (p.Ala75Asp)
c.200C>A (p.Ala67Asp)
c.179C>A (p.Ala60Asp)
 gnomAD v4
3g.38477416C>GCA352126622ACVR2Bc.182C>G (p.Ala61Gly)
n.3971C>G
n.186C>G
c.245C>G (p.Ala82Gly)
c.224C>G (p.Ala75Gly)
c.200C>G (p.Ala67Gly)
c.179C>G (p.Ala60Gly)
3g.38477416C>TCA352126620ACVR2Bc.182C>T (p.Ala61Val)
n.3971C>T
n.186C>T
c.245C>T (p.Ala82Val)
c.224C>T (p.Ala75Val)
c.200C>T (p.Ala67Val)
c.179C>T (p.Ala60Val)
3g.38477417C>ACA433137417ACVR2Bc.183C>A (p.Ala61=)
n.3972C>A
n.187C>A
c.246C>A (p.Ala82=)
c.225C>A (p.Ala75=)
c.201C>A (p.Ala67=)
c.180C>A (p.Ala60=)
3g.38477417C=CA1358528951ACVR2Bc.183C= (p.Ala61=)
n.3972C=
n.187C=
c.246C= (p.Ala82=)
c.225C= (p.Ala75=)
c.201C= (p.Ala67=)
c.180C= (p.Ala60=)
3g.38477417C>GCA2318726ACVR2Bc.183C>G (p.Ala61=)
n.3972C>G
n.187C>G
c.246C>G (p.Ala82=)
c.225C>G (p.Ala75=)
c.201C>G (p.Ala67=)
c.180C>G (p.Ala60=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477417C>TCA433137418ACVR2Bc.183C>T (p.Ala61=)
n.3972C>T
n.187C>T
c.246C>T (p.Ala82=)
c.225C>T (p.Ala75=)
c.201C>T (p.Ala67=)
c.180C>T (p.Ala60=)
3g.38477418T>ACA352126629ACVR2Bc.184T>A (p.Ser62Thr)
n.3973T>A
n.188T>A
c.247T>A (p.Ser83Thr)
c.226T>A (p.Ser76Thr)
c.202T>A (p.Ser68Thr)
c.181T>A (p.Ser61Thr)
3g.38477418T>CCA352126633ACVR2Bc.184T>C (p.Ser62Pro)
n.3973T>C
n.188T>C
c.247T>C (p.Ser83Pro)
c.226T>C (p.Ser76Pro)
c.202T>C (p.Ser68Pro)
c.181T>C (p.Ser61Pro)
3g.38477418T>GCA352126639ACVR2Bc.184T>G (p.Ser62Ala)
n.3973T>G
n.188T>G
c.247T>G (p.Ser83Ala)
c.226T>G (p.Ser76Ala)
c.202T>G (p.Ser68Ala)
c.181T>G (p.Ser61Ala)
3g.38477419C>ACA352126642ACVR2Bc.185C>A (p.Ser62Tyr)
n.3974C>A
n.189C>A
c.248C>A (p.Ser83Tyr)
c.227C>A (p.Ser76Tyr)
c.203C>A (p.Ser68Tyr)
c.182C>A (p.Ser61Tyr)
3g.38477419C>GCA352126645ACVR2Bc.185C>G (p.Ser62Cys)
n.3974C>G
n.189C>G
c.248C>G (p.Ser83Cys)
c.227C>G (p.Ser76Cys)
c.203C>G (p.Ser68Cys)
c.182C>G (p.Ser61Cys)
3g.38477419C>TCA352126649ACVR2Bc.185C>T (p.Ser62Phe)
n.3974C>T
n.189C>T
c.248C>T (p.Ser83Phe)
c.227C>T (p.Ser76Phe)
c.203C>T (p.Ser68Phe)
c.182C>T (p.Ser61Phe)
3g.38477420delCA2755894263ACVR2Bc.186del (p.Trp63GlyfsTer11)
n.3975del
n.190del
c.249del (p.Trp84GlyfsTer11)
c.228del (p.Trp77GlyfsTer11)
c.204del (p.Trp69GlyfsTer11)
c.183del (p.Trp62GlyfsTer11)
3g.38477420C>ACA433137421ACVR2Bc.186C>A (p.Ser62=)
n.3975C>A
n.190C>A
c.249C>A (p.Ser83=)
c.228C>A (p.Ser76=)
c.204C>A (p.Ser68=)
c.183C>A (p.Ser61=)
3g.38477420C>GCA433137422ACVR2Bc.186C>G (p.Ser62=)
n.3975C>G
n.190C>G
c.249C>G (p.Ser83=)
c.228C>G (p.Ser76=)
c.204C>G (p.Ser68=)
c.183C>G (p.Ser61=)
3g.38477420C>TCA433137420ACVR2Bc.186C>T (p.Ser62=)
n.3975C>T
n.190C>T
c.249C>T (p.Ser83=)
c.228C>T (p.Ser76=)
c.204C>T (p.Ser68=)
c.183C>T (p.Ser61=)
3g.38477421T>ACA352126651ACVR2Bc.187T>A (p.Trp63Arg)
n.3976T>A
n.191T>A
c.250T>A (p.Trp84Arg)
c.229T>A (p.Trp77Arg)
c.205T>A (p.Trp69Arg)
c.184T>A (p.Trp62Arg)
3g.38477421T>CCA352126653ACVR2Bc.187T>C (p.Trp63Arg)
n.3976T>C
n.191T>C
c.250T>C (p.Trp84Arg)
c.229T>C (p.Trp77Arg)
c.205T>C (p.Trp69Arg)
c.184T>C (p.Trp62Arg)
3g.38477421T>GCA352126655ACVR2Bc.187T>G (p.Trp63Gly)
n.3976T>G
n.191T>G
c.250T>G (p.Trp84Gly)
c.229T>G (p.Trp77Gly)
c.205T>G (p.Trp69Gly)
c.184T>G (p.Trp62Gly)
3g.38477422G>ACA352126661ACVR2Bc.188G>A (p.Trp63Ter)
n.3977G>A
n.192G>A
c.251G>A (p.Trp84Ter)
c.230G>A (p.Trp77Ter)
c.206G>A (p.Trp69Ter)
c.185G>A (p.Trp62Ter)
3g.38477422G>CCA352126664ACVR2Bc.188G>C (p.Trp63Ser)
n.3977G>C
n.192G>C
c.251G>C (p.Trp84Ser)
c.230G>C (p.Trp77Ser)
c.206G>C (p.Trp69Ser)
c.185G>C (p.Trp62Ser)
3g.38477422G>TCA352126658ACVR2Bc.188G>T (p.Trp63Leu)
n.3977G>T
n.192G>T
c.251G>T (p.Trp84Leu)
c.230G>T (p.Trp77Leu)
c.206G>T (p.Trp69Leu)
c.185G>T (p.Trp62Leu)
3g.38477423G>ACA352126665ACVR2Bc.189G>A (p.Trp63Ter)
n.3978G>A
n.193G>A
c.252G>A (p.Trp84Ter)
c.231G>A (p.Trp77Ter)
c.207G>A (p.Trp69Ter)
c.186G>A (p.Trp62Ter)
3g.38477423G>CCA352126666ACVR2Bc.189G>C (p.Trp63Cys)
n.3978G>C
n.193G>C
c.252G>C (p.Trp84Cys)
c.231G>C (p.Trp77Cys)
c.207G>C (p.Trp69Cys)
c.186G>C (p.Trp62Cys)
3g.38477423G>TCA352126667ACVR2Bc.189G>T (p.Trp63Cys)
n.3978G>T
n.193G>T
c.252G>T (p.Trp84Cys)
c.231G>T (p.Trp77Cys)
c.207G>T (p.Trp69Cys)
c.186G>T (p.Trp62Cys)
3g.38477424C>ACA352126669ACVR2Bc.190C>A (p.Arg64Ser)
n.3979C>A
n.194C>A
c.253C>A (p.Arg85Ser)
c.232C>A (p.Arg78Ser)
c.208C>A (p.Arg70Ser)
c.187C>A (p.Arg63Ser)
3g.38477424C=CA1358528952ACVR2Bc.190C= (p.Arg64=)
n.3979C=
n.194C=
c.253C= (p.Arg85=)
c.232C= (p.Arg78=)
c.208C= (p.Arg70=)
c.187C= (p.Arg63=)
3g.38477424C>GCA352126672ACVR2Bc.190C>G (p.Arg64Gly)
n.3979C>G
n.194C>G
c.253C>G (p.Arg85Gly)
c.232C>G (p.Arg78Gly)
c.208C>G (p.Arg70Gly)
c.187C>G (p.Arg63Gly)
3g.38477424C>TCA352126674ACVR2Bc.190C>T (p.Arg64Cys)
n.3979C>T
n.194C>T
c.253C>T (p.Arg85Cys)
c.232C>T (p.Arg78Cys)
c.208C>T (p.Arg70Cys)
c.187C>T (p.Arg63Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38477425G>ACA352126681ACVR2Bc.191G>A (p.Arg64His)
n.3980G>A
n.195G>A
c.254G>A (p.Arg85His)
c.233G>A (p.Arg78His)
c.209G>A (p.Arg70His)
c.188G>A (p.Arg63His)
 dbSNP gnomAD v4
3g.38477425G>CCA72924085ACVR2Bc.191G>C (p.Arg64Pro)
n.3980G>C
n.195G>C
c.254G>C (p.Arg85Pro)
c.233G>C (p.Arg78Pro)
c.209G>C (p.Arg70Pro)
c.188G>C (p.Arg63Pro)
 dbSNP
3g.38477425G=CA1358528953ACVR2Bc.191G= (p.Arg64=)
n.3980G=
n.195G=
c.254G= (p.Arg85=)
c.233G= (p.Arg78=)
c.209G= (p.Arg70=)
c.188G= (p.Arg63=)
3g.38477425G>TCA2318727ACVR2Bc.191G>T (p.Arg64Leu)
n.3980G>T
n.195G>T
c.254G>T (p.Arg85Leu)
c.233G>T (p.Arg78Leu)
c.209G>T (p.Arg70Leu)
c.188G>T (p.Arg63Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477426C>ACA433137428ACVR2Bc.192C>A (p.Arg64=)
n.3981C>A
n.196C>A
c.255C>A (p.Arg85=)
c.234C>A (p.Arg78=)
c.210C>A (p.Arg70=)
c.189C>A (p.Arg63=)
3g.38477426C=CA1358528954ACVR2Bc.192C= (p.Arg64=)
n.3981C=
n.196C=
c.255C= (p.Arg85=)
c.234C= (p.Arg78=)
c.210C= (p.Arg70=)
c.189C= (p.Arg63=)
3g.38477426C>GCA433137427ACVR2Bc.192C>G (p.Arg64=)
n.3981C>G
n.196C>G
c.255C>G (p.Arg85=)
c.234C>G (p.Arg78=)
c.210C>G (p.Arg70=)
c.189C>G (p.Arg63=)
3g.38477426C>TCA2318728ACVR2Bc.192C>T (p.Arg64=)
n.3981C>T
n.196C>T
c.255C>T (p.Arg85=)
c.234C>T (p.Arg78=)
c.210C>T (p.Arg70=)
c.189C>T (p.Arg63=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477427A>CCA352126686ACVR2Bc.193A>C (p.Asn65His)
n.3982A>C
n.197A>C
c.256A>C (p.Asn86His)
c.235A>C (p.Asn79His)
c.211A>C (p.Asn71His)
c.190A>C (p.Asn64His)
3g.38477427A>GCA352126687ACVR2Bc.193A>G (p.Asn65Asp)
n.3982A>G
n.197A>G
c.256A>G (p.Asn86Asp)
c.235A>G (p.Asn79Asp)
c.211A>G (p.Asn71Asp)
c.190A>G (p.Asn64Asp)
3g.38477427A>TCA352126688ACVR2Bc.193A>T (p.Asn65Tyr)
n.3982A>T
n.197A>T
c.256A>T (p.Asn86Tyr)
c.235A>T (p.Asn79Tyr)
c.211A>T (p.Asn71Tyr)
c.190A>T (p.Asn64Tyr)
3g.38477428A=CA1358528955ACVR2Bc.194A= (p.Asn65=)
n.3983A=
n.198A=
c.257A= (p.Asn86=)
c.236A= (p.Asn79=)
c.212A= (p.Asn71=)
c.191A= (p.Asn64=)
3g.38477428A>CCA352126690ACVR2Bc.194A>C (p.Asn65Thr)
n.3983A>C
n.198A>C
c.257A>C (p.Asn86Thr)
c.236A>C (p.Asn79Thr)
c.212A>C (p.Asn71Thr)
c.191A>C (p.Asn64Thr)
3g.38477428A>GCA2318730ACVR2Bc.194A>G (p.Asn65Ser)
n.3983A>G
n.198A>G
c.257A>G (p.Asn86Ser)
c.236A>G (p.Asn79Ser)
c.212A>G (p.Asn71Ser)
c.191A>G (p.Asn64Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477428A>TCA352126692ACVR2Bc.194A>T (p.Asn65Ile)
n.3983A>T
n.198A>T
c.257A>T (p.Asn86Ile)
c.236A>T (p.Asn79Ile)
c.212A>T (p.Asn71Ile)
c.191A>T (p.Asn64Ile)
3g.38477428_38477431delinsACAGCA1358528956ACVR2Bc.194_197delinsACAG (p.Asn65=)
n.3983_3986delinsACAG
n.198_201delinsACAG
c.257_260delinsACAG (p.Asn86=)
c.236_239delinsACAG (p.Asn79=)
c.212_215delinsACAG (p.Asn71=)
c.191_194delinsACAG (p.Asn64=)
3g.38477429C>ACA352126695ACVR2Bc.195C>A (p.Asn65Lys)
n.3984C>A
n.199C>A
c.258C>A (p.Asn86Lys)
c.237C>A (p.Asn79Lys)
c.213C>A (p.Asn71Lys)
c.192C>A (p.Asn64Lys)
3g.38477429C=CA1358528957ACVR2Bc.195C= (p.Asn65=)
n.3984C=
n.199C=
c.258C= (p.Asn86=)
c.237C= (p.Asn79=)
c.213C= (p.Asn71=)
c.192C= (p.Asn64=)
3g.38477429C>GCA352126704ACVR2Bc.195C>G (p.Asn65Lys)
n.3984C>G
n.199C>G
c.258C>G (p.Asn86Lys)
c.237C>G (p.Asn79Lys)
c.213C>G (p.Asn71Lys)
c.192C>G (p.Asn64Lys)
3g.38477429C>TCA72924119ACVR2Bc.195C>T (p.Asn65=)
n.3984C>T
n.199C>T
c.258C>T (p.Asn86=)
c.237C>T (p.Asn79=)
c.213C>T (p.Asn71=)
c.192C>T (p.Asn64=)
 dbSNP gnomAD v2 gnomAD v4
3g.38477430_38477432delCA2318729ACVR2Bc.196_198del (p.Ser66del)
n.3985_3987del
n.200_202del
c.259_261del (p.Ser87del)
c.238_240del (p.Ser80del)
c.214_216del (p.Ser72del)
c.193_195del (p.Ser65del)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477430A>CCA352126708ACVR2Bc.196A>C (p.Ser66Arg)
n.3985A>C
n.200A>C
c.259A>C (p.Ser87Arg)
c.238A>C (p.Ser80Arg)
c.214A>C (p.Ser72Arg)
c.193A>C (p.Ser65Arg)
3g.38477430A>GCA352126709ACVR2Bc.196A>G (p.Ser66Gly)
n.3985A>G
n.200A>G
c.259A>G (p.Ser87Gly)
c.238A>G (p.Ser80Gly)
c.214A>G (p.Ser72Gly)
c.193A>G (p.Ser65Gly)
 gnomAD v4
3g.38477430A>TCA352126710ACVR2Bc.196A>T (p.Ser66Cys)
n.3985A>T
n.200A>T
c.259A>T (p.Ser87Cys)
c.238A>T (p.Ser80Cys)
c.214A>T (p.Ser72Cys)
c.193A>T (p.Ser65Cys)
3g.38477431G>ACA2318731ACVR2Bc.197G>A (p.Ser66Asn)
n.3986G>A
n.201G>A
c.260G>A (p.Ser87Asn)
c.239G>A (p.Ser80Asn)
c.215G>A (p.Ser72Asn)
c.194G>A (p.Ser65Asn)
 dbSNP ExAC gnomAD v2
3g.38477431G>CCA352126712ACVR2Bc.197G>C (p.Ser66Thr)
n.3986G>C
n.201G>C
c.260G>C (p.Ser87Thr)
c.239G>C (p.Ser80Thr)
c.215G>C (p.Ser72Thr)
c.194G>C (p.Ser65Thr)
3g.38477431G=CA1358528958ACVR2Bc.197G= (p.Ser66=)
n.3986G=
n.201G=
c.260G= (p.Ser87=)
c.239G= (p.Ser80=)
c.215G= (p.Ser72=)
c.194G= (p.Ser65=)
3g.38477431G>TCA352126715ACVR2Bc.197G>T (p.Ser66Ile)
n.3986G>T
n.201G>T
c.260G>T (p.Ser87Ile)
c.239G>T (p.Ser80Ile)
c.215G>T (p.Ser72Ile)
c.194G>T (p.Ser65Ile)
3g.38477432C>ACA352126719ACVR2Bc.198C>A (p.Ser66Arg)
n.3987C>A
n.202C>A
c.261C>A (p.Ser87Arg)
c.240C>A (p.Ser80Arg)
c.216C>A (p.Ser72Arg)
c.195C>A (p.Ser65Arg)
3g.38477432C=CA1358528959ACVR2Bc.198C= (p.Ser66=)
n.3987C=
n.202C=
c.261C= (p.Ser87=)
c.240C= (p.Ser80=)
c.216C= (p.Ser72=)
c.195C= (p.Ser65=)
3g.38477432C>GCA352126723ACVR2Bc.198C>G (p.Ser66Arg)
n.3987C>G
n.202C>G
c.261C>G (p.Ser87Arg)
c.240C>G (p.Ser80Arg)
c.216C>G (p.Ser72Arg)
c.195C>G (p.Ser65Arg)
3g.38477432C>TCA72924124ACVR2Bc.198C>T (p.Ser66=)
n.3987C>T
n.202C>T
c.261C>T (p.Ser87=)
c.240C>T (p.Ser80=)
c.216C>T (p.Ser72=)
c.195C>T (p.Ser65=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38477433T>ACA352126730ACVR2Bc.199T>A (p.Ser67Thr)
n.3988T>A
n.203T>A
c.262T>A (p.Ser88Thr)
c.241T>A (p.Ser81Thr)
c.217T>A (p.Ser73Thr)
c.196T>A (p.Ser66Thr)
3g.38477433T>CCA352126731ACVR2Bc.199T>C (p.Ser67Pro)
n.3988T>C
n.203T>C
c.262T>C (p.Ser88Pro)
c.241T>C (p.Ser81Pro)
c.217T>C (p.Ser73Pro)
c.196T>C (p.Ser66Pro)
3g.38477433T>GCA352126729ACVR2Bc.199T>G (p.Ser67Ala)
n.3988T>G
n.203T>G
c.262T>G (p.Ser88Ala)
c.241T>G (p.Ser81Ala)
c.217T>G (p.Ser73Ala)
c.196T>G (p.Ser66Ala)
3g.38477434C>ACA352126733ACVR2Bc.200C>A (p.Ser67Tyr)
n.3989C>A
n.204C>A
c.263C>A (p.Ser88Tyr)
c.242C>A (p.Ser81Tyr)
c.218C>A (p.Ser73Tyr)
c.197C>A (p.Ser66Tyr)
3g.38477434C=CA1358528960ACVR2Bc.200C= (p.Ser67=)
n.3989C=
n.204C=
c.263C= (p.Ser88=)
c.242C= (p.Ser81=)
c.218C= (p.Ser73=)
c.197C= (p.Ser66=)
3g.38477434C>GCA352126732ACVR2Bc.200C>G (p.Ser67Cys)
n.3989C>G
n.204C>G
c.263C>G (p.Ser88Cys)
c.242C>G (p.Ser81Cys)
c.218C>G (p.Ser73Cys)
c.197C>G (p.Ser66Cys)
 dbSNP gnomAD v3 gnomAD v4
3g.38477434C>TCA352126734ACVR2Bc.200C>T (p.Ser67Phe)
n.3989C>T
n.204C>T
c.263C>T (p.Ser88Phe)
c.242C>T (p.Ser81Phe)
c.218C>T (p.Ser73Phe)
c.197C>T (p.Ser66Phe)
3g.38477435T>ACA433137436ACVR2Bc.201T>A (p.Ser67=)
n.3990T>A
n.205T>A
c.264T>A (p.Ser88=)
c.243T>A (p.Ser81=)
c.219T>A (p.Ser73=)
c.198T>A (p.Ser66=)
 dbSNP gnomAD v2 gnomAD v4
3g.38477435T>CCA433137435ACVR2Bc.201T>C (p.Ser67=)
n.3990T>C
n.205T>C
c.264T>C (p.Ser88=)
c.243T>C (p.Ser81=)
c.219T>C (p.Ser73=)
c.198T>C (p.Ser66=)
3g.38477435T>GCA433137434ACVR2Bc.201T>G (p.Ser67=)
n.3990T>G
n.205T>G
c.264T>G (p.Ser88=)
c.243T>G (p.Ser81=)
c.219T>G (p.Ser73=)
c.198T>G (p.Ser66=)
 gnomAD v4
3g.38477435T=CA1358528961ACVR2Bc.201T= (p.Ser67=)
n.3990T=
n.205T=
c.264T= (p.Ser88=)
c.243T= (p.Ser81=)
c.219T= (p.Ser73=)
c.198T= (p.Ser66=)
3g.38477436G>ACA352126738ACVR2Bc.202G>A (p.Gly68Ser)
n.3991G>A
n.206G>A
c.265G>A (p.Gly89Ser)
c.244G>A (p.Gly82Ser)
c.220G>A (p.Gly74Ser)
c.199G>A (p.Gly67Ser)
3g.38477436G>CCA352126750ACVR2Bc.202G>C (p.Gly68Arg)
n.3991G>C
n.206G>C
c.265G>C (p.Gly89Arg)
c.244G>C (p.Gly82Arg)
c.220G>C (p.Gly74Arg)
c.199G>C (p.Gly67Arg)
3g.38477436G>TCA352126739ACVR2Bc.202G>T (p.Gly68Cys)
n.3991G>T
n.206G>T
c.265G>T (p.Gly89Cys)
c.244G>T (p.Gly82Cys)
c.220G>T (p.Gly74Cys)
c.199G>T (p.Gly67Cys)
3g.38477437G>ACA352126753ACVR2Bc.203G>A (p.Gly68Asp)
n.3992G>A
n.207G>A
c.266G>A (p.Gly89Asp)
c.245G>A (p.Gly82Asp)
c.221G>A (p.Gly74Asp)
c.200G>A (p.Gly67Asp)
3g.38477437G>CCA352126761ACVR2Bc.203G>C (p.Gly68Ala)
n.3992G>C
n.207G>C
c.266G>C (p.Gly89Ala)
c.245G>C (p.Gly82Ala)
c.221G>C (p.Gly74Ala)
c.200G>C (p.Gly67Ala)
3g.38477437G>TCA352126765ACVR2Bc.203G>T (p.Gly68Val)
n.3992G>T
n.207G>T
c.266G>T (p.Gly89Val)
c.245G>T (p.Gly82Val)
c.221G>T (p.Gly74Val)
c.200G>T (p.Gly67Val)
3g.38477438C>ACA433137439ACVR2Bc.204C>A (p.Gly68=)
n.3993C>A
n.208C>A
c.267C>A (p.Gly89=)
c.246C>A (p.Gly82=)
c.222C>A (p.Gly74=)
c.201C>A (p.Gly67=)
3g.38477438C>GCA433137441ACVR2Bc.204C>G (p.Gly68=)
n.3993C>G
n.208C>G
c.267C>G (p.Gly89=)
c.246C>G (p.Gly82=)
c.222C>G (p.Gly74=)
c.201C>G (p.Gly67=)
3g.38477438C>TCA433137442ACVR2Bc.204C>T (p.Gly68=)
n.3993C>T
n.208C>T
c.267C>T (p.Gly89=)
c.246C>T (p.Gly82=)
c.222C>T (p.Gly74=)
c.201C>T (p.Gly67=)
 gnomAD v4
3g.38477439A=CA1358528962ACVR2Bc.205A= (p.Thr69=)
n.3994A=
n.209A=
c.268A= (p.Thr90=)
c.247A= (p.Thr83=)
c.223A= (p.Thr75=)
c.202A= (p.Thr68=)
3g.38477439A>CCA352126768ACVR2Bc.205A>C (p.Thr69Pro)
n.3994A>C
n.209A>C
c.268A>C (p.Thr90Pro)
c.247A>C (p.Thr83Pro)
c.223A>C (p.Thr75Pro)
c.202A>C (p.Thr68Pro)
3g.38477439A>GCA352126771ACVR2Bc.205A>G (p.Thr69Ala)
n.3994A>G
n.209A>G
c.268A>G (p.Thr90Ala)
c.247A>G (p.Thr83Ala)
c.223A>G (p.Thr75Ala)
c.202A>G (p.Thr68Ala)
3g.38477439A>TCA352126774ACVR2Bc.205A>T (p.Thr69Ser)
n.3994A>T
n.209A>T
c.268A>T (p.Thr90Ser)
c.247A>T (p.Thr83Ser)
c.223A>T (p.Thr75Ser)
c.202A>T (p.Thr68Ser)
 dbSNP
3g.38477440C>ACA352126777ACVR2Bc.206C>A (p.Thr69Asn)
n.3995C>A
n.210C>A
c.269C>A (p.Thr90Asn)
c.248C>A (p.Thr83Asn)
c.224C>A (p.Thr75Asn)
c.203C>A (p.Thr68Asn)
3g.38477440C=CA1358528963ACVR2Bc.206C= (p.Thr69=)
n.3995C=
n.210C=
c.269C= (p.Thr90=)
c.248C= (p.Thr83=)
c.224C= (p.Thr75=)
c.203C= (p.Thr68=)
3g.38477440C>GCA352126780ACVR2Bc.206C>G (p.Thr69Ser)
n.3995C>G
n.210C>G
c.269C>G (p.Thr90Ser)
c.248C>G (p.Thr83Ser)
c.224C>G (p.Thr75Ser)
c.203C>G (p.Thr68Ser)
 dbSNP gnomAD v2 gnomAD v4
3g.38477440C>TCA352126783ACVR2Bc.206C>T (p.Thr69Ile)
n.3995C>T
n.210C>T
c.269C>T (p.Thr90Ile)
c.248C>T (p.Thr83Ile)
c.224C>T (p.Thr75Ile)
c.203C>T (p.Thr68Ile)
3g.38477441C>ACA433137444ACVR2Bc.207C>A (p.Thr69=)
n.3996C>A
n.211C>A
c.270C>A (p.Thr90=)
c.249C>A (p.Thr83=)
c.225C>A (p.Thr75=)
c.204C>A (p.Thr68=)
3g.38477441C>GCA433137446ACVR2Bc.207C>G (p.Thr69=)
n.3996C>G
n.211C>G
c.270C>G (p.Thr90=)
c.249C>G (p.Thr83=)
c.225C>G (p.Thr75=)
c.204C>G (p.Thr68=)
3g.38477441C>TCA433137445ACVR2Bc.207C>T (p.Thr69=)
n.3996C>T
n.211C>T
c.270C>T (p.Thr90=)
c.249C>T (p.Thr83=)
c.225C>T (p.Thr75=)
c.204C>T (p.Thr68=)
3g.38477442A>CCA352126814ACVR2Bc.208A>C (p.Ile70Leu)
n.3997A>C
n.212A>C
c.271A>C (p.Ile91Leu)
c.250A>C (p.Ile84Leu)
c.226A>C (p.Ile76Leu)
c.205A>C (p.Ile69Leu)
3g.38477442A>GCA352126818ACVR2Bc.208A>G (p.Ile70Val)
n.3997A>G
n.212A>G
c.271A>G (p.Ile91Val)
c.250A>G (p.Ile84Val)
c.226A>G (p.Ile76Val)
c.205A>G (p.Ile69Val)
3g.38477442A>TCA352126820ACVR2Bc.208A>T (p.Ile70Phe)
n.3997A>T
n.212A>T
c.271A>T (p.Ile91Phe)
c.250A>T (p.Ile84Phe)
c.226A>T (p.Ile76Phe)
c.205A>T (p.Ile69Phe)
3g.38477443T>ACA352126829ACVR2Bc.209T>A (p.Ile70Asn)
n.3998T>A
n.213T>A
c.272T>A (p.Ile91Asn)
c.251T>A (p.Ile84Asn)
c.227T>A (p.Ile76Asn)
c.206T>A (p.Ile69Asn)
3g.38477443T>CCA352126823ACVR2Bc.209T>C (p.Ile70Thr)
n.3998T>C
n.213T>C
c.272T>C (p.Ile91Thr)
c.251T>C (p.Ile84Thr)
c.227T>C (p.Ile76Thr)
c.206T>C (p.Ile69Thr)
3g.38477443T>GCA72924125ACVR2Bc.209T>G (p.Ile70Ser)
n.3998T>G
n.213T>G
c.272T>G (p.Ile91Ser)
c.251T>G (p.Ile84Ser)
c.227T>G (p.Ile76Ser)
c.206T>G (p.Ile69Ser)
 dbSNP
3g.38477443T=CA1358528964ACVR2Bc.209T= (p.Ile70=)
n.3998T=
n.213T=
c.272T= (p.Ile91=)
c.251T= (p.Ile84=)
c.227T= (p.Ile76=)
c.206T= (p.Ile69=)
3g.38477444C>ACA433137448ACVR2Bc.210C>A (p.Ile70=)
n.3999C>A
n.214C>A
c.273C>A (p.Ile91=)
c.252C>A (p.Ile84=)
c.228C>A (p.Ile76=)
c.207C>A (p.Ile69=)
3g.38477444C=CA1358528965ACVR2Bc.210C= (p.Ile70=)
n.3999C=
n.214C=
c.273C= (p.Ile91=)
c.252C= (p.Ile84=)
c.228C= (p.Ile76=)
c.207C= (p.Ile69=)
3g.38477444C>GCA352126831ACVR2Bc.210C>G (p.Ile70Met)
n.3999C>G
n.214C>G
c.273C>G (p.Ile91Met)
c.252C>G (p.Ile84Met)
c.228C>G (p.Ile76Met)
c.207C>G (p.Ile69Met)
 dbSNP
3g.38477444C>TCA2318732ACVR2Bc.210C>T (p.Ile70=)
n.3999C>T
n.214C>T
c.273C>T (p.Ile91=)
c.252C>T (p.Ile84=)
c.228C>T (p.Ile76=)
c.207C>T (p.Ile69=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched