Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51914495delCA2695216735ACVRL1c.412del (p.Val138SerfsTer30)
c.682del (p.Val228SerfsTer30)
c.160del (p.Val54SerfsTer30)
c.412del (p.Val138SerfsTer?)
c.724del (p.Val242SerfsTer30)
c.-108del (n.-108del)
12g.51914495G>ACA322926ACVRL1c.412G>A (p.Val138Ile)
c.682G>A (p.Val228Ile)
c.160G>A (p.Val54Ile)
c.724G>A (p.Val242Ile)
c.-108G>A (n.-108G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51914495G>CCA384900063ACVRL1c.412G>C (p.Val138Leu)
c.682G>C (p.Val228Leu)
c.160G>C (p.Val54Leu)
c.724G>C (p.Val242Leu)
c.-108G>C (n.-108G>C)
12g.51914495G=CA2036269044ACVRL1c.412G= (p.Val138=)
c.682G= (p.Val228=)
c.160G= (p.Val54=)
c.724G= (p.Val242=)
c.-108G= (n.-108G=)
12g.51914495G>TCA384900064ACVRL1c.412G>T (p.Val138Phe)
c.682G>T (p.Val228Phe)
c.160G>T (p.Val54Phe)
c.724G>T (p.Val242Phe)
c.-108G>T (n.-108G>T)
12g.51914496T>ACA384900065ACVRL1c.413T>A (p.Val138Asp)
c.683T>A (p.Val228Asp)
c.161T>A (p.Val54Asp)
c.725T>A (p.Val242Asp)
c.-107T>A (n.-107T>A)
12g.51914496T>CCA384900066ACVRL1c.413T>C (p.Val138Ala)
c.683T>C (p.Val228Ala)
c.161T>C (p.Val54Ala)
c.725T>C (p.Val242Ala)
c.-107T>C (n.-107T>C)
12g.51914496T>GCA384900067ACVRL1c.413T>G (p.Val138Gly)
c.683T>G (p.Val228Gly)
c.161T>G (p.Val54Gly)
c.725T>G (p.Val242Gly)
c.-107T>G (n.-107T>G)
12g.51914497C>ACA479807849ACVRL1c.414C>A (p.Val138=)
c.684C>A (p.Val228=)
c.162C>A (p.Val54=)
c.726C>A (p.Val242=)
c.-106C>A (n.-106C>A)
12g.51914497C>GCA479807852ACVRL1c.414C>G (p.Val138=)
c.684C>G (p.Val228=)
c.162C>G (p.Val54=)
c.726C>G (p.Val242=)
c.-106C>G (n.-106C>G)
gnomAD v4
12g.51914497C>TCA479807854ACVRL1c.414C>T (p.Val138=)
c.684C>T (p.Val228=)
c.162C>T (p.Val54=)
c.726C>T (p.Val242=)
c.-106C>T (n.-106C>T)
12g.51914498A=CA2036269053ACVRL1c.415A= (p.Lys139=)
c.685A= (p.Lys229=)
c.163A= (p.Lys55=)
c.727A= (p.Lys243=)
c.-105A= (n.-105A=)
12g.51914498A>CCA384900068ACVRL1c.415A>C (p.Lys139Gln)
c.685A>C (p.Lys229Gln)
c.163A>C (p.Lys55Gln)
c.727A>C (p.Lys243Gln)
c.-105A>C (n.-105A>C)
12g.51914498A>GCA384900069ACVRL1c.415A>G (p.Lys139Glu)
c.685A>G (p.Lys229Glu)
c.163A>G (p.Lys55Glu)
c.727A>G (p.Lys243Glu)
c.-105A>G (n.-105A>G)
ClinVar dbSNP
12g.51914498A>TCA384900070ACVRL1c.415A>T (p.Lys139Ter)
c.685A>T (p.Lys229Ter)
c.163A>T (p.Lys55Ter)
c.727A>T (p.Lys243Ter)
c.-105A>T (n.-105A>T)
12g.51914499A=CA2036269061ACVRL1c.416A= (p.Lys139=)
c.686A= (p.Lys229=)
c.164A= (p.Lys55=)
c.728A= (p.Lys243=)
c.-104A= (n.-104A=)
12g.51914499A>CCA384900071ACVRL1c.416A>C (p.Lys139Thr)
c.686A>C (p.Lys229Thr)
c.164A>C (p.Lys55Thr)
c.728A>C (p.Lys243Thr)
c.-104A>C (n.-104A>C)
12g.51914499A>GCA384900072ACVRL1c.416A>G (p.Lys139Arg)
c.686A>G (p.Lys229Arg)
c.164A>G (p.Lys55Arg)
c.728A>G (p.Lys243Arg)
c.-104A>G (n.-104A>G)
12g.51914499A>TCA384900073ACVRL1c.416A>T (p.Lys139Met)
c.686A>T (p.Lys229Met)
c.164A>T (p.Lys55Met)
c.728A>T (p.Lys243Met)
c.-104A>T (n.-104A>T)
ClinVar dbSNP
12g.51914500G>ACA479807858ACVRL1c.417G>A (p.Lys139=)
c.687G>A (p.Lys229=)
c.165G>A (p.Lys55=)
c.729G>A (p.Lys243=)
c.-103G>A (n.-103G>A)
gnomAD v4
12g.51914500G>CCA384900074ACVRL1c.417G>C (p.Lys139Asn)
c.687G>C (p.Lys229Asn)
c.165G>C (p.Lys55Asn)
c.729G>C (p.Lys243Asn)
c.-103G>C (n.-103G>C)
ClinVar dbSNP
12g.51914500G=CA2036269065ACVRL1c.417G= (p.Lys139=)
c.687G= (p.Lys229=)
c.165G= (p.Lys55=)
c.729G= (p.Lys243=)
c.-103G= (n.-103G=)
12g.51914500G>TCA384900075ACVRL1c.417G>T (p.Lys139Asn)
c.687G>T (p.Lys229Asn)
c.165G>T (p.Lys55Asn)
c.729G>T (p.Lys243Asn)
c.-103G>T (n.-103G>T)
12g.51914501A>CCA384900076ACVRL1c.418A>C (p.Ile140Leu)
c.688A>C (p.Ile230Leu)
c.166A>C (p.Ile56Leu)
c.730A>C (p.Ile244Leu)
c.-102A>C (n.-102A>C)
12g.51914501A>GCA384900077ACVRL1c.418A>G (p.Ile140Val)
c.688A>G (p.Ile230Val)
c.166A>G (p.Ile56Val)
c.730A>G (p.Ile244Val)
c.-102A>G (n.-102A>G)
12g.51914501A>TCA384900078ACVRL1c.418A>T (p.Ile140Phe)
c.688A>T (p.Ile230Phe)
c.166A>T (p.Ile56Phe)
c.730A>T (p.Ile244Phe)
c.-102A>T (n.-102A>T)
ClinVar
12g.51914502T>ACA384900079ACVRL1c.419T>A (p.Ile140Asn)
c.689T>A (p.Ile230Asn)
c.167T>A (p.Ile56Asn)
c.731T>A (p.Ile244Asn)
c.-101T>A (n.-101T>A)
12g.51914502T>CCA384900080ACVRL1c.419T>C (p.Ile140Thr)
c.689T>C (p.Ile230Thr)
c.167T>C (p.Ile56Thr)
c.731T>C (p.Ile244Thr)
c.-101T>C (n.-101T>C)
12g.51914502T>GCA384900081ACVRL1c.419T>G (p.Ile140Ser)
c.689T>G (p.Ile230Ser)
c.167T>G (p.Ile56Ser)
c.731T>G (p.Ile244Ser)
c.-101T>G (n.-101T>G)
12g.51914505_51914507delCA2580615205ACVRL1c.422_424del (p.Phe141del)
c.692_694del (p.Phe231del)
c.170_172del (p.Phe57del)
c.734_736del (p.Phe245del)
c.-98_-96del (n.-98_-96del)
12g.51914503C>ACA479807872ACVRL1c.420C>A (p.Ile140=)
c.690C>A (p.Ile230=)
c.168C>A (p.Ile56=)
c.732C>A (p.Ile244=)
c.-100C>A (n.-100C>A)
12g.51914503C>GCA384900082ACVRL1c.420C>G (p.Ile140Met)
c.690C>G (p.Ile230Met)
c.168C>G (p.Ile56Met)
c.732C>G (p.Ile244Met)
c.-100C>G (n.-100C>G)
12g.51914503C>TCA479807879ACVRL1c.420C>T (p.Ile140=)
c.690C>T (p.Ile230=)
c.168C>T (p.Ile56=)
c.732C>T (p.Ile244=)
c.-100C>T (n.-100C>T)
gnomAD v4
12g.51914504T>ACA384900083ACVRL1c.421T>A (p.Phe141Ile)
c.691T>A (p.Phe231Ile)
c.169T>A (p.Phe57Ile)
c.733T>A (p.Phe245Ile)
c.-99T>A (n.-99T>A)
12g.51914504T>CCA384900084ACVRL1c.421T>C (p.Phe141Leu)
c.691T>C (p.Phe231Leu)
c.169T>C (p.Phe57Leu)
c.733T>C (p.Phe245Leu)
c.-99T>C (n.-99T>C)
12g.51914504T>GCA384900085ACVRL1c.421T>G (p.Phe141Val)
c.691T>G (p.Phe231Val)
c.169T>G (p.Phe57Val)
c.733T>G (p.Phe245Val)
c.-99T>G (n.-99T>G)
12g.51914505T>ACA384900086ACVRL1c.422T>A (p.Phe141Tyr)
c.692T>A (p.Phe231Tyr)
c.170T>A (p.Phe57Tyr)
c.734T>A (p.Phe245Tyr)
c.-98T>A (n.-98T>A)
12g.51914505T>CCA384900087ACVRL1c.422T>C (p.Phe141Ser)
c.692T>C (p.Phe231Ser)
c.170T>C (p.Phe57Ser)
c.734T>C (p.Phe245Ser)
c.-98T>C (n.-98T>C)
12g.51914505T>GCA384900088ACVRL1c.422T>G (p.Phe141Cys)
c.692T>G (p.Phe231Cys)
c.170T>G (p.Phe57Cys)
c.734T>G (p.Phe245Cys)
c.-98T>G (n.-98T>G)
12g.51914505_51914508delinsTCTCCA2036269070ACVRL1c.422_425delinsTCTC (p.Phe141=)
c.692_695delinsTCTC (p.Phe231=)
c.170_173delinsTCTC (p.Phe57=)
c.734_737delinsTCTC (p.Phe245=)
c.-98_-95delinsTCTC (n.-98_-95delinsTCTC)
12g.51914506C>ACA384900090ACVRL1c.423C>A (p.Phe141Leu)
c.693C>A (p.Phe231Leu)
c.171C>A (p.Phe57Leu)
c.735C>A (p.Phe245Leu)
c.-97C>A (n.-97C>A)
dbSNP
12g.51914506C>GCA384900089ACVRL1c.423C>G (p.Phe141Leu)
c.693C>G (p.Phe231Leu)
c.171C>G (p.Phe57Leu)
c.735C>G (p.Phe245Leu)
c.-97C>G (n.-97C>G)
12g.51914506C>TCA479807897ACVRL1c.423C>T (p.Phe141=)
c.693C>T (p.Phe231=)
c.171C>T (p.Phe57=)
c.735C>T (p.Phe245=)
c.-97C>T (n.-97C>T)
12g.51914509_51914511delCA254369ACVRL1c.426_428del (p.Ser143del)
c.696_698del (p.Ser233del)
c.174_176del (p.Ser59del)
c.738_740del (p.Ser247del)
c.-94_-92del (n.-94_-92del)
dbSNP gnomAD v3 gnomAD v4
12g.51914507T>ACA384900091ACVRL1c.424T>A (p.Ser142Thr)
c.694T>A (p.Ser232Thr)
c.172T>A (p.Ser58Thr)
c.736T>A (p.Ser246Thr)
c.-96T>A (n.-96T>A)
12g.51914507T>CCA384900092ACVRL1c.424T>C (p.Ser142Pro)
c.694T>C (p.Ser232Pro)
c.172T>C (p.Ser58Pro)
c.736T>C (p.Ser246Pro)
c.-96T>C (n.-96T>C)
12g.51914507T>GCA384900093ACVRL1c.424T>G (p.Ser142Ala)
c.694T>G (p.Ser232Ala)
c.172T>G (p.Ser58Ala)
c.736T>G (p.Ser246Ala)
c.-96T>G (n.-96T>G)
12g.51914508C>ACA384900094ACVRL1c.425C>A (p.Ser142Tyr)
c.695C>A (p.Ser232Tyr)
c.173C>A (p.Ser58Tyr)
c.737C>A (p.Ser246Tyr)
c.-95C>A (n.-95C>A)
12g.51914508C=CA2036269078ACVRL1c.425C= (p.Ser142=)
c.695C= (p.Ser232=)
c.173C= (p.Ser58=)
c.737C= (p.Ser246=)
c.-95C= (n.-95C=)
12g.51914508C>GCA384900095ACVRL1c.425C>G (p.Ser142Cys)
c.695C>G (p.Ser232Cys)
c.173C>G (p.Ser58Cys)
c.737C>G (p.Ser246Cys)
c.-95C>G (n.-95C>G)

Number of alleles fetched