Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51913338_51913339delinsCTCA2036267366ACVRL1c.301_302delinsCT (p.Leu101=)
c.103+803_103+804delinsCT (p.=)
c.343_344delinsCT (p.Leu115=)
c.-389_-388delinsCT (p.=)
12g.51913339delCA16619568ACVRL1c.302del (p.Leu101ArgfsTer21)
c.103+804del (p.=)
c.344del (p.Leu115ArgfsTer?)
c.344del (p.Leu115ArgfsTer21)
c.-388del (p.=)
ClinVar dbSNP
12g.51913339T>ACA384898119ACVRL1c.302T>A (p.Leu101Gln)
c.103+804T>A (p.=)
c.344T>A (p.Leu115Gln)
c.-388T>A (p.=)
12g.51913339T>CCA384898120ACVRL1c.302T>C (p.Leu101Pro)
c.103+804T>C (p.=)
c.344T>C (p.Leu115Pro)
c.-388T>C (p.=)
12g.51913339T>GCA384898121ACVRL1c.302T>G (p.Leu101Arg)
c.103+804T>G (p.=)
c.344T>G (p.Leu115Arg)
c.-388T>G (p.=)
12g.51913340G>ACA6572852ACVRL1c.303G>A (p.Leu101=)
c.103+805G>A (p.=)
c.345G>A (p.Leu115=)
c.-387G>A (p.=)
ClinVar dbSNP ExAC gnomAD
12g.51913340G>CCA236362044ACVRL1c.303G>C (p.Leu101=)
c.103+805G>C (p.=)
c.345G>C (p.Leu115=)
c.-387G>C (p.=)
ClinVar dbSNP gnomAD
12g.51913340G=CA2036267376ACVRL1c.303G= (p.Leu101=)
c.103+805G= (p.=)
c.345G= (p.Leu115=)
c.-387G= (p.=)
12g.51913340G>TCA480063137ACVRL1c.303G>T (p.Leu101=)
c.103+805G>T (p.=)
c.345G>T (p.Leu115=)
c.-387G>T (p.=)
12g.51913341G>ACA384898122ACVRL1c.304G>A (p.Val102Met)
c.103+806G>A (p.=)
c.346G>A (p.Val116Met)
c.-386G>A (p.=)
12g.51913341G>CCA384898123ACVRL1c.304G>C (p.Val102Leu)
c.103+806G>C (p.=)
c.346G>C (p.Val116Leu)
c.-386G>C (p.=)
ClinVar
12g.51913341G=CA2036267384ACVRL1c.304G= (p.Val102=)
c.103+806G= (p.=)
c.346G= (p.Val116=)
c.-386G= (p.=)
12g.51913341G>TCA384898124ACVRL1c.304G>T (p.Val102Leu)
c.103+806G>T (p.=)
c.346G>T (p.Val116Leu)
c.-386G>T (p.=)
12g.51913342T>ACA384898127ACVRL1c.305T>A (p.Val102Glu)
c.103+807T>A (p.=)
c.347T>A (p.Val116Glu)
c.-385T>A (p.=)
12g.51913342T>CCA384898126ACVRL1c.305T>C (p.Val102Ala)
c.103+807T>C (p.=)
c.347T>C (p.Val116Ala)
c.-385T>C (p.=)
12g.51913342T>GCA384898125ACVRL1c.305T>G (p.Val102Gly)
c.103+807T>G (p.=)
c.347T>G (p.Val116Gly)
c.-385T>G (p.=)
12g.51913343G>ACA480063138ACVRL1c.306G>A (p.Val102=)
c.103+808G>A (p.=)
c.348G>A (p.Val116=)
c.-384G>A (p.=)
12g.51913343G>CCA480063139ACVRL1c.306G>C (p.Val102=)
c.103+808G>C (p.=)
c.348G>C (p.Val116=)
c.-384G>C (p.=)
12g.51913343G=CA2036267388ACVRL1c.306G= (p.Val102=)
c.103+808G= (p.=)
c.348G= (p.Val116=)
c.-384G= (p.=)
12g.51913343G>TCA6572853ACVRL1c.306G>T (p.Val102=)
c.103+808G>T (p.=)
c.348G>T (p.Val116=)
c.-384G>T (p.=)
dbSNP ExAC gnomAD
12g.51913344C>ACA384898128ACVRL1c.307C>A (p.Leu103Met)
c.103+809C>A (p.=)
c.349C>A (p.Leu117Met)
c.-383C>A (p.=)
12g.51913344C=CA2036267394ACVRL1c.307C= (p.Leu103=)
c.103+809C= (p.=)
c.349C= (p.Leu117=)
c.-383C= (p.=)
12g.51913344C>GCA384898129ACVRL1c.307C>G (p.Leu103Val)
c.103+809C>G (p.=)
c.349C>G (p.Leu117Val)
c.-383C>G (p.=)
12g.51913344C>TCA6572854ACVRL1c.307C>T (p.Leu103=)
c.103+809C>T (p.=)
c.349C>T (p.Leu117=)
c.-383C>T (p.=)
dbSNP ExAC gnomAD
12g.51913345T>ACA384898130ACVRL1c.308T>A (p.Leu103Gln)
c.103+810T>A (p.=)
c.350T>A (p.Leu117Gln)
c.-382T>A (p.=)
12g.51913345T>CCA384898131ACVRL1c.308T>C (p.Leu103Pro)
c.103+810T>C (p.=)
c.350T>C (p.Leu117Pro)
c.-382T>C (p.=)
12g.51913345T>GCA384898132ACVRL1c.308T>G (p.Leu103Arg)
c.103+810T>G (p.=)
c.350T>G (p.Leu117Arg)
c.-382T>G (p.=)
12g.51913346G>ACA6572856ACVRL1c.309G>A (p.Leu103=)
c.103+811G>A (p.=)
c.351G>A (p.Leu117=)
c.-381G>A (p.=)
dbSNP ExAC gnomAD
12g.51913346G>CCA480063140ACVRL1c.309G>C (p.Leu103=)
c.103+811G>C (p.=)
c.351G>C (p.Leu117=)
c.-381G>C (p.=)
12g.51913346G=CA2036267398ACVRL1c.309G= (p.Leu103=)
c.103+811G= (p.=)
c.351G= (p.Leu117=)
c.-381G= (p.=)
12g.51913346G>TCA6572855ACVRL1c.309G>T (p.Leu103=)
c.103+811G>T (p.=)
c.351G>T (p.Leu117=)
c.-381G>T (p.=)
dbSNP ExAC gnomAD
12g.51913347G>ACA384898133ACVRL1c.310G>A (p.Glu104Lys)
c.103+812G>A (p.=)
c.352G>A (p.Glu118Lys)
c.-380G>A (p.=)
12g.51913347G>CCA384898134ACVRL1c.310G>C (p.Glu104Gln)
c.103+812G>C (p.=)
c.352G>C (p.Glu118Gln)
c.-380G>C (p.=)
12g.51913347G>TCA384898135ACVRL1c.310G>T (p.Glu104Ter)
c.103+812G>T (p.=)
c.352G>T (p.Glu118Ter)
c.-380G>T (p.=)
12g.51913348A>CCA384898138ACVRL1c.311A>C (p.Glu104Ala)
c.103+813A>C (p.=)
c.353A>C (p.Glu118Ala)
c.-379A>C (p.=)
12g.51913348A>GCA384898137ACVRL1c.311A>G (p.Glu104Gly)
c.103+813A>G (p.=)
c.353A>G (p.Glu118Gly)
c.-379A>G (p.=)
12g.51913348A>TCA384898136ACVRL1c.311A>T (p.Glu104Val)
c.103+813A>T (p.=)
c.353A>T (p.Glu118Val)
c.-379A>T (p.=)
12g.51913349G>ACA480063141ACVRL1c.312G>A (p.Glu104=)
c.103+814G>A (p.=)
c.354G>A (p.Glu118=)
c.-378G>A (p.=)
12g.51913349G>CCA384898139ACVRL1c.312G>C (p.Glu104Asp)
c.103+814G>C (p.=)
c.354G>C (p.Glu118Asp)
c.-378G>C (p.=)
12g.51913349G=CA2036267406ACVRL1c.312G= (p.Glu104=)
c.103+814G= (p.=)
c.354G= (p.Glu118=)
c.-378G= (p.=)
12g.51913349G>TCA384898140ACVRL1c.312G>T (p.Glu104Asp)
c.103+814G>T (p.=)
c.354G>T (p.Glu118Asp)
c.-378G>T (p.=)
12g.51913350G>ACA384898141ACVRL1c.313G>A (p.Ala105Thr)
c.103+815G>A (p.=)
c.355G>A (p.Gly119Arg)
c.355G>A (p.Ala119Thr)
c.-377G>A (p.=)
12g.51913350G>CCA384898143ACVRL1c.313G>C (p.Ala105Pro)
c.103+815G>C (p.=)
c.355G>C (p.Gly119Arg)
c.355G>C (p.Ala119Pro)
c.-377G>C (p.=)
12g.51913350G=CA2036267409ACVRL1c.313G= (p.Ala105=)
c.103+815G= (p.=)
c.355G= (p.Gly119=)
c.355G= (p.Ala119=)
c.-377G= (p.=)
12g.51913350G>TCA384898142ACVRL1c.313G>T (p.Ala105Ser)
c.103+815G>T (p.=)
c.355G>T (p.Gly119Ter)
c.355G>T (p.Ala119Ser)
c.-377G>T (p.=)
12g.51913351G>ACA384898144ACVRL1c.313+1G>A (p.=)
c.103+816G>A (p.=)
c.355+1G>A (p.=)
c.-377+1G>A (p.=)
12g.51913351G>CCA384898145ACVRL1c.313+1G>C (p.=)
c.103+816G>C (p.=)
c.355+1G>C (p.=)
c.-377+1G>C (p.=)
12g.51913351G=CA2036267415ACVRL1c.313+1G= (p.=)
c.103+816G= (p.=)
c.355+1G= (p.=)
c.-377+1G= (p.=)
12g.51913351G>TCA384898146ACVRL1c.313+1G>T (p.=)
c.103+816G>T (p.=)
c.355+1G>T (p.=)
c.-377+1G>T (p.=)
ClinVar
12g.51913352T>ACA384898147ACVRL1c.313+2T>A (p.=)
c.103+817T>A (p.=)
c.355+2T>A (p.=)
c.-377+2T>A (p.=)

Number of alleles fetched