Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51915367_51915368delinsCGCA2036269486ACVRL1c.915_916delinsCG (p.Ser305=)
c.393_394delinsCG (p.Ser131=)
c.957_958delinsCG (p.Ser319=)
c.645_646delinsCG (p.Ser215=)
c.126_127delinsCG (p.Ser42=)
12g.51915368delCA16619569ACVRL1c.916del (p.Ala306ArgfsTer?)
c.394del (p.Ala132ArgfsTer?)
c.958del (p.Ala320ArgfsTer?)
c.646del (p.Ala216ArgfsTer?)
c.127del (p.Ala43ArgfsTer?)
ClinVar dbSNP gnomAD
12g.51915368G>ACA384900956ACVRL1c.916G>A (p.Ala306Thr)
c.394G>A (p.Ala132Thr)
c.958G>A (p.Ala320Thr)
c.646G>A (p.Ala216Thr)
c.127G>A (p.Ala43Thr)
COSMIC COSMIC
12g.51915368G>CCA384900960ACVRL1c.916G>C (p.Ala306Pro)
c.394G>C (p.Ala132Pro)
c.958G>C (p.Ala320Pro)
c.646G>C (p.Ala216Pro)
c.127G>C (p.Ala43Pro)
ClinVar
12g.51915368G=CA2036269489ACVRL1c.916G= (p.Ala306=)
c.394G= (p.Ala132=)
c.958G= (p.Ala320=)
c.646G= (p.Ala216=)
c.127G= (p.Ala43=)
12g.51915368G>TCA384900963ACVRL1c.916G>T (p.Ala306Ser)
c.394G>T (p.Ala132Ser)
c.958G>T (p.Ala320Ser)
c.646G>T (p.Ala216Ser)
c.127G>T (p.Ala43Ser)
12g.51915368_51915369delinsAACA16614160ACVRL1c.916_917delinsAA (p.Ala306Lys)
c.394_395delinsAA (p.Ala132Lys)
c.958_959delinsAA (p.Ala320Lys)
c.646_647delinsAA (p.Ala216Lys)
c.127_128delinsAA (p.Ala43Lys)
ClinVar dbSNP
12g.51915368_51915369delinsGCCA2036269488ACVRL1c.916_917delinsGC (p.Ala306=)
c.394_395delinsGC (p.Ala132=)
c.958_959delinsGC (p.Ala320=)
c.646_647delinsGC (p.Ala216=)
c.127_128delinsGC (p.Ala43=)
12g.51915368_51915369insTCACA1139662701ACVRL1c.916_917insTCA (p.Ala306delinsValThr)
c.394_395insTCA (p.Ala132delinsValThr)
c.958_959insTCA (p.Ala320delinsValThr)
c.646_647insTCA (p.Ala216delinsValThr)
c.127_128insTCA (p.Ala43delinsValThr)
ClinVar dbSNP
12g.51915369C>ACA384900973ACVRL1c.917C>A (p.Ala306Glu)
c.395C>A (p.Ala132Glu)
c.959C>A (p.Ala320Glu)
c.647C>A (p.Ala216Glu)
c.128C>A (p.Ala43Glu)
12g.51915369C=CA2036269490ACVRL1c.917C= (p.Ala306=)
c.395C= (p.Ala132=)
c.959C= (p.Ala320=)
c.647C= (p.Ala216=)
c.128C= (p.Ala43=)
12g.51915369C>GCA384900969ACVRL1c.917C>G (p.Ala306Gly)
c.395C>G (p.Ala132Gly)
c.959C>G (p.Ala320Gly)
c.647C>G (p.Ala216Gly)
c.128C>G (p.Ala43Gly)
12g.51915369C>TCA6573017ACVRL1c.917C>T (p.Ala306Val)
c.395C>T (p.Ala132Val)
c.959C>T (p.Ala320Val)
c.647C>T (p.Ala216Val)
c.128C>T (p.Ala43Val)
ClinVar dbSNP ExAC gnomAD
12g.51915370G>ACA480063219ACVRL1c.918G>A (p.Ala306=)
c.396G>A (p.Ala132=)
c.960G>A (p.Ala320=)
c.648G>A (p.Ala216=)
c.129G>A (p.Ala43=)
COSMIC
12g.51915370G>CCA480063221ACVRL1c.918G>C (p.Ala306=)
c.396G>C (p.Ala132=)
c.960G>C (p.Ala320=)
c.648G>C (p.Ala216=)
c.129G>C (p.Ala43=)
ClinVar
12g.51915370G=CA2036269491ACVRL1c.918G= (p.Ala306=)
c.396G= (p.Ala132=)
c.960G= (p.Ala320=)
c.648G= (p.Ala216=)
c.129G= (p.Ala43=)
12g.51915370G>TCA480063220ACVRL1c.918G>T (p.Ala306=)
c.396G>T (p.Ala132=)
c.960G>T (p.Ala320=)
c.648G>T (p.Ala216=)
c.129G>T (p.Ala43=)
12g.51915371G>ACA384900975ACVRL1c.919G>A (p.Ala307Thr)
c.397G>A (p.Ala133Thr)
c.961G>A (p.Ala321Thr)
c.649G>A (p.Ala217Thr)
c.130G>A (p.Ala44Thr)
12g.51915371G>CCA384900976ACVRL1c.919G>C (p.Ala307Pro)
c.397G>C (p.Ala133Pro)
c.961G>C (p.Ala321Pro)
c.649G>C (p.Ala217Pro)
c.130G>C (p.Ala44Pro)
12g.51915371G>TCA384900983ACVRL1c.919G>T (p.Ala307Ser)
c.397G>T (p.Ala133Ser)
c.961G>T (p.Ala321Ser)
c.649G>T (p.Ala217Ser)
c.130G>T (p.Ala44Ser)
12g.51915372C>ACA325209ACVRL1c.920C>A (p.Ala307Glu)
c.398C>A (p.Ala133Glu)
c.962C>A (p.Ala321Glu)
c.650C>A (p.Ala217Glu)
c.131C>A (p.Ala44Glu)
ClinVar dbSNP
12g.51915372C=CA2036269492ACVRL1c.920C= (p.Ala307=)
c.398C= (p.Ala133=)
c.962C= (p.Ala321=)
c.650C= (p.Ala217=)
c.131C= (p.Ala44=)
12g.51915372C>GCA384900989ACVRL1c.920C>G (p.Ala307Gly)
c.398C>G (p.Ala133Gly)
c.962C>G (p.Ala321Gly)
c.650C>G (p.Ala217Gly)
c.131C>G (p.Ala44Gly)
12g.51915372C>TCA236364091ACVRL1c.920C>T (p.Ala307Val)
c.398C>T (p.Ala133Val)
c.962C>T (p.Ala321Val)
c.650C>T (p.Ala217Val)
c.131C>T (p.Ala44Val)
dbSNP gnomAD
12g.51915373A>CCA480063222ACVRL1c.921A>C (p.Ala307=)
c.399A>C (p.Ala133=)
c.963A>C (p.Ala321=)
c.651A>C (p.Ala217=)
c.132A>C (p.Ala44=)
12g.51915373A>GCA480063223ACVRL1c.921A>G (p.Ala307=)
c.399A>G (p.Ala133=)
c.963A>G (p.Ala321=)
c.651A>G (p.Ala217=)
c.132A>G (p.Ala44=)
12g.51915373A>TCA480063224ACVRL1c.921A>T (p.Ala307=)
c.399A>T (p.Ala133=)
c.963A>T (p.Ala321=)
c.651A>T (p.Ala217=)
c.132A>T (p.Ala44=)
12g.51915374T>ACA384900998ACVRL1c.922T>A (p.Cys308Ser)
c.400T>A (p.Cys134Ser)
c.964T>A (p.Cys322Ser)
c.652T>A (p.Cys218Ser)
c.133T>A (p.Cys45Ser)
12g.51915374T>CCA384901009ACVRL1c.922T>C (p.Cys308Arg)
c.400T>C (p.Cys134Arg)
c.964T>C (p.Cys322Arg)
c.652T>C (p.Cys218Arg)
c.133T>C (p.Cys45Arg)
12g.51915374T>GCA384901012ACVRL1c.922T>G (p.Cys308Gly)
c.400T>G (p.Cys134Gly)
c.964T>G (p.Cys322Gly)
c.652T>G (p.Cys218Gly)
c.133T>G (p.Cys45Gly)
12g.51915375G>ACA384901017ACVRL1c.923G>A (p.Cys308Tyr)
c.401G>A (p.Cys134Tyr)
c.965G>A (p.Cys322Tyr)
c.653G>A (p.Cys218Tyr)
c.134G>A (p.Cys45Tyr)
12g.51915375G>CCA384901020ACVRL1c.923G>C (p.Cys308Ser)
c.401G>C (p.Cys134Ser)
c.965G>C (p.Cys322Ser)
c.653G>C (p.Cys218Ser)
c.134G>C (p.Cys45Ser)
12g.51915375G>TCA384901035ACVRL1c.923G>T (p.Cys308Phe)
c.401G>T (p.Cys134Phe)
c.965G>T (p.Cys322Phe)
c.653G>T (p.Cys218Phe)
c.134G>T (p.Cys45Phe)
12g.51915376C>ACA384901042ACVRL1c.924C>A (p.Cys308Ter)
c.402C>A (p.Cys134Ter)
c.966C>A (p.Cys322Ter)
c.654C>A (p.Cys218Ter)
c.135C>A (p.Cys45Ter)
ClinVar
12g.51915376C=CA2036269493ACVRL1c.924C= (p.Cys308=)
c.402C= (p.Cys134=)
c.966C= (p.Cys322=)
c.654C= (p.Cys218=)
c.135C= (p.Cys45=)
12g.51915376C>GCA384901039ACVRL1c.924C>G (p.Cys308Trp)
c.402C>G (p.Cys134Trp)
c.966C>G (p.Cys322Trp)
c.654C>G (p.Cys218Trp)
c.135C>G (p.Cys45Trp)
12g.51915376C>TCA480063225ACVRL1c.924C>T (p.Cys308=)
c.402C>T (p.Cys134=)
c.966C>T (p.Cys322=)
c.654C>T (p.Cys218=)
c.135C>T (p.Cys45=)
12g.51915377G>ACA384901046ACVRL1c.925G>A (p.Gly309Ser)
c.403G>A (p.Gly135Ser)
c.967G>A (p.Gly323Ser)
c.655G>A (p.Gly219Ser)
c.136G>A (p.Gly46Ser)
ClinVar
12g.51915377G>CCA384901048ACVRL1c.925G>C (p.Gly309Arg)
c.403G>C (p.Gly135Arg)
c.967G>C (p.Gly323Arg)
c.655G>C (p.Gly219Arg)
c.136G>C (p.Gly46Arg)
ClinVar
12g.51915377G=CA2036269494ACVRL1c.925G= (p.Gly309=)
c.403G= (p.Gly135=)
c.967G= (p.Gly323=)
c.655G= (p.Gly219=)
c.136G= (p.Gly46=)
12g.51915377G>TCA384901051ACVRL1c.925G>T (p.Gly309Cys)
c.403G>T (p.Gly135Cys)
c.967G>T (p.Gly323Cys)
c.655G>T (p.Gly219Cys)
c.136G>T (p.Gly46Cys)
12g.51915378G>ACA384901054ACVRL1c.926G>A (p.Gly309Asp)
c.404G>A (p.Gly135Asp)
c.968G>A (p.Gly323Asp)
c.656G>A (p.Gly219Asp)
c.137G>A (p.Gly46Asp)
12g.51915378G>CCA384901056ACVRL1c.926G>C (p.Gly309Ala)
c.404G>C (p.Gly135Ala)
c.968G>C (p.Gly323Ala)
c.656G>C (p.Gly219Ala)
c.137G>C (p.Gly46Ala)
12g.51915378G>TCA384901058ACVRL1c.926G>T (p.Gly309Val)
c.404G>T (p.Gly135Val)
c.968G>T (p.Gly323Val)
c.656G>T (p.Gly219Val)
c.137G>T (p.Gly46Val)
COSMIC COSMIC
12g.51915379C>ACA6573018ACVRL1c.927C>A (p.Gly309=)
c.405C>A (p.Gly135=)
c.969C>A (p.Gly323=)
c.657C>A (p.Gly219=)
c.138C>A (p.Gly46=)
dbSNP ExAC gnomAD
12g.51915379C=CA2036269497ACVRL1c.927C= (p.Gly309=)
c.405C= (p.Gly135=)
c.969C= (p.Gly323=)
c.657C= (p.Gly219=)
c.138C= (p.Gly46=)
12g.51915379C>GCA480063226ACVRL1c.927C>G (p.Gly309=)
c.405C>G (p.Gly135=)
c.969C>G (p.Gly323=)
c.657C>G (p.Gly219=)
c.138C>G (p.Gly46=)
12g.51915379C>TCA480063227ACVRL1c.927C>T (p.Gly309=)
c.405C>T (p.Gly135=)
c.969C>T (p.Gly323=)
c.657C>T (p.Gly219=)
c.138C>T (p.Gly46=)
12g.51915379_51915380delinsATCA915948524ACVRL1c.927_928delinsAT (p.Gly309=)
c.405_406delinsAT (p.Gly135=)
c.969_970delinsAT (p.Gly323=)
c.657_658delinsAT (p.Gly219=)
c.138_139delinsAT (p.Gly46=)
ClinVar dbSNP
12g.51915379_51915380delinsCCCA2036269496ACVRL1c.927_928delinsCC (p.Gly309=)
c.405_406delinsCC (p.Gly135=)
c.969_970delinsCC (p.Gly323=)
c.657_658delinsCC (p.Gly219=)
c.138_139delinsCC (p.Gly46=)

Number of alleles fetched