Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432189_229432272delCA529915257ACTA1c.616+1_617-1del
c.481+1_482-1del
c.479+138_479+221del (n.479+138_479+221del)
 gnomAD v2 gnomAD v4
1g.229432253G>ACA2574151299ACTA1c.616+17C>T (n.616+17C>T)
c.481+17C>T (n.481+17C>T)
c.479+154C>T (n.479+154C>T)
1g.229432254delCA2698260209ACTA1c.616+16del (n.616+16del)
c.481+16del (n.481+16del)
c.479+153del (n.479+153del)
 dbSNP
1g.229432255A>CCA2650926667ACTA1c.616+15T>G (n.616+15T>G)
c.481+15T>G (n.481+15T>G)
c.479+152T>G (n.479+152T>G)
 gnomAD v4
1g.229432256G>ACA529915279ACTA1c.616+14C>T (n.616+14C>T)
c.481+14C>T (n.481+14C>T)
c.479+151C>T (n.479+151C>T)
 dbSNP gnomAD v2
1g.229432256G=CA1226125711ACTA1c.616+14C= (n.616+14C=)
c.481+14C= (n.481+14C=)
c.479+151C= (n.479+151C=)
1g.229432256_229432267delCA2698260213ACTA1c.616+3_616+14del (n.616+3_616+14del)
c.481+3_481+14del (n.481+3_481+14del)
c.479+140_479+151del (n.479+140_479+151del)
 dbSNP
1g.229432257G>ACA1442835ACTA1c.616+13C>T (n.616+13C>T)
c.481+13C>T (n.481+13C>T)
c.479+150C>T (n.479+150C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432257G>CCA2574151301ACTA1c.616+13C>G (n.616+13C>G)
c.481+13C>G (n.481+13C>G)
c.479+150C>G (n.479+150C>G)
1g.229432257G=CA1144181480ACTA1c.616+13C= (n.616+13C=)
c.481+13C= (n.481+13C=)
c.479+150C= (n.479+150C=)
1g.229432257G>TCA2574151303ACTA1c.616+13C>A (n.616+13C>A)
c.481+13C>A (n.481+13C>A)
c.479+150C>A (n.479+150C>A)
1g.229432258G>ACA529915280ACTA1c.616+12C>T (n.616+12C>T)
c.481+12C>T (n.481+12C>T)
c.479+149C>T (n.479+149C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.229432258G=CA1226125712ACTA1c.616+12C= (n.616+12C=)
c.481+12C= (n.481+12C=)
c.479+149C= (n.479+149C=)
1g.229432258G>TCA2574151305ACTA1c.616+12C>A (n.616+12C>A)
c.481+12C>A (n.481+12C>A)
c.479+149C>A (n.479+149C>A)
 gnomAD v4
1g.229432259G>ACA2650926668ACTA1c.616+11C>T (n.616+11C>T)
c.481+11C>T (n.481+11C>T)
c.479+148C>T (n.479+148C>T)
 gnomAD v4
1g.229432260C>ACA1226125714ACTA1c.616+10G>T (n.616+10G>T)
c.481+10G>T (n.481+10G>T)
c.479+147G>T (n.479+147G>T)
 dbSNP gnomAD v4
1g.229432260C=CA1226125713ACTA1c.616+10G= (n.616+10G=)
c.481+10G= (n.481+10G=)
c.479+147G= (n.479+147G=)
1g.229432260C>TCA2650926669ACTA1c.616+10G>A (n.616+10G>A)
c.481+10G>A (n.481+10G>A)
c.479+147G>A (n.479+147G>A)
 gnomAD v4
1g.229432261G>ACA2650926670ACTA1c.616+9C>T (n.616+9C>T)
c.481+9C>T (n.481+9C>T)
c.479+146C>T (n.479+146C>T)
 gnomAD v4
1g.229432261G=CA1226125715ACTA1c.616+9C= (n.616+9C=)
c.481+9C= (n.481+9C=)
c.479+146C= (n.479+146C=)
1g.229432261G>TCA1013145475ACTA1c.616+9C>A (n.616+9C>A)
c.481+9C>A (n.481+9C>A)
c.479+146C>A (n.479+146C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.229432263C>ACA2607340884ACTA1c.616+7G>T (n.616+7G>T)
c.481+7G>T (n.481+7G>T)
c.479+144G>T (n.479+144G>T)
 gnomAD v3 gnomAD v4
1g.229432263C=CA1226125716ACTA1c.616+7G= (n.616+7G=)
c.481+7G= (n.481+7G=)
c.479+144G= (n.479+144G=)
1g.229432263C>GCA529915281ACTA1c.616+7G>C (n.616+7G>C)
c.481+7G>C (n.481+7G>C)
c.479+144G>C (n.479+144G>C)
 dbSNP gnomAD v2 gnomAD v4
1g.229432263C>TCA1442836ACTA1c.616+7G>A (n.616+7G>A)
c.481+7G>A (n.481+7G>A)
c.479+144G>A (n.479+144G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432265C=CA1226125717ACTA1c.616+5G= (n.616+5G=)
c.481+5G= (n.481+5G=)
c.479+142G= (n.479+142G=)
1g.229432265C>TCA1442837ACTA1c.616+5G>A (n.616+5G>A)
c.481+5G>A (n.481+5G>A)
c.479+142G>A (n.479+142G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432266G>ACA1442839ACTA1c.616+4C>T (n.616+4C>T)
c.481+4C>T (n.481+4C>T)
c.479+141C>T (n.479+141C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432266G>CCA1442838ACTA1c.616+4C>G (n.616+4C>G)
c.481+4C>G (n.481+4C>G)
c.479+141C>G (n.479+141C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432266G=CA1143819804ACTA1c.616+4C= (n.616+4C=)
c.481+4C= (n.481+4C=)
c.479+141C= (n.479+141C=)
1g.229432266G>TCA38815831ACTA1c.616+4C>A (n.616+4C>A)
c.481+4C>A (n.481+4C>A)
c.479+141C>A (n.479+141C>A)
 dbSNP
1g.229432268A=CA1226125718ACTA1c.616+2T= (n.616+2T=)
c.481+2T= (n.481+2T=)
c.479+139T= (n.479+139T=)
1g.229432268A>CCA345147663ACTA1c.616+2T>G (n.616+2T>G)
c.481+2T>G (n.481+2T>G)
c.479+139T>G (n.479+139T>G)
1g.229432268A>GCA345147669ACTA1c.616+2T>C (n.616+2T>C)
c.481+2T>C (n.481+2T>C)
c.479+139T>C (n.479+139T>C)
 ClinVar
1g.229432268A>TCA345147672ACTA1c.616+2T>A (n.616+2T>A)
c.481+2T>A (n.481+2T>A)
c.479+139T>A (n.479+139T>A)
 dbSNP gnomAD v3 gnomAD v4
1g.229432269C>ACA345147676ACTA1c.616+1G>T (n.616+1G>T)
c.481+1G>T (n.481+1G>T)
c.479+138G>T (n.479+138G>T)
1g.229432269C=CA1141228836ACTA1c.616+1G= (n.616+1G=)
c.481+1G= (n.481+1G=)
c.479+138G= (n.479+138G=)
1g.229432269C>GCA38815838ACTA1c.616+1G>C (n.616+1G>C)
c.481+1G>C (n.481+1G>C)
c.479+138G>C (n.479+138G>C)
 dbSNP
1g.229432269C>TCA38815843ACTA1c.616+1G>A (n.616+1G>A)
c.481+1G>A (n.481+1G>A)
c.479+138G>A (n.479+138G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.229432270C>ACA345147691ACTA1c.616G>T (p.Ala206Ser)
c.481G>T (p.Ala161Ser)
c.479+137G>T (n.479+137G>T)
 dbSNP
1g.229432270C=CA1226125719ACTA1c.616G= (p.Ala206=)
c.481G= (p.Ala161=)
c.479+137G= (n.479+137G=)
1g.229432270C>GCA345147690ACTA1c.616G>C (p.Ala206Pro)
c.481G>C (p.Ala161Pro)
c.479+137G>C (n.479+137G>C)
1g.229432270C>TCA16603572ACTA1c.616G>A (p.Ala206Thr)
c.481G>A (p.Ala161Thr)
c.479+137G>A (n.479+137G>A)
 ClinVar dbSNP
1g.229432271T>ACA423755292ACTA1c.615A>T (p.Thr205=)
c.480A>T (p.Thr160=)
c.479+136A>T (n.479+136A>T)
 gnomAD v4
1g.229432271T>CCA423755294ACTA1c.615A>G (p.Thr205=)
c.480A>G (p.Thr160=)
c.479+136A>G (n.479+136A>G)
 dbSNP
1g.229432271T>GCA423755293ACTA1c.615A>C (p.Thr205=)
c.480A>C (p.Thr160=)
c.479+136A>C (n.479+136A>C)
1g.229432271T=CA1226125720ACTA1c.615A= (p.Thr205=)
c.480A= (p.Thr160=)
c.479+136A= (n.479+136A=)
1g.229432272G>ACA345147694ACTA1c.614C>T (p.Thr205Ile)
c.479C>T (p.Thr160Ile)
c.479+135C>T (n.479+135C>T)
1g.229432272G>CCA345147692ACTA1c.614C>G (p.Thr205Arg)
c.479C>G (p.Thr160Arg)
c.479+135C>G (n.479+135C>G)
1g.229432272G>TCA345147693ACTA1c.614C>A (p.Thr205Lys)
c.479C>A (p.Thr160Lys)
c.479+135C>A (n.479+135C>A)
1g.229432273T>ACA345147700ACTA1c.613A>T (p.Thr205Ser)
c.478A>T (p.Thr160Ser)
c.479+134A>T (n.479+134A>T)
1g.229432273T>CCA345147702ACTA1c.613A>G (p.Thr205Ala)
c.478A>G (p.Thr160Ala)
c.479+134A>G (n.479+134A>G)
1g.229432273T>GCA345147712ACTA1c.613A>C (p.Thr205Pro)
c.478A>C (p.Thr160Pro)
c.479+134A>C (n.479+134A>C)
1g.229432274G>ACA423755298ACTA1c.612C>T (p.Thr204=)
c.477C>T (p.Thr159=)
c.479+133C>T (n.479+133C>T)
 dbSNP gnomAD v4
1g.229432274G>CCA423755301ACTA1c.612C>G (p.Thr204=)
c.477C>G (p.Thr159=)
c.479+133C>G (n.479+133C>G)
1g.229432274G=CA1226125721ACTA1c.612C= (p.Thr204=)
c.477C= (p.Thr159=)
c.479+133C= (n.479+133C=)
1g.229432274G>TCA423755299ACTA1c.612C>A (p.Thr204=)
c.477C>A (p.Thr159=)
c.479+133C>A (n.479+133C>A)
1g.229432274_229432277delCA2698260221ACTA1c.609_612del (p.Thr204GlnfsTer?)
c.474_477del (p.Thr159GlnfsTer?)
c.479+130_479+133del (n.479+130_479+133del)
 dbSNP
1g.229432275G>ACA345147742ACTA1c.611C>T (p.Thr204Ile)
c.476C>T (p.Thr159Ile)
c.479+132C>T (n.479+132C>T)
 ClinVar
1g.229432275G>CCA345147726ACTA1c.611C>G (p.Thr204Ser)
c.476C>G (p.Thr159Ser)
c.479+132C>G (n.479+132C>G)
1g.229432275G>TCA345147717ACTA1c.611C>A (p.Thr204Asn)
c.476C>A (p.Thr159Asn)
c.479+132C>A (n.479+132C>A)
1g.229432276T>ACA345147748ACTA1c.610A>T (p.Thr204Ser)
c.475A>T (p.Thr159Ser)
c.479+131A>T (n.479+131A>T)
1g.229432276T>CCA345147761ACTA1c.610A>G (p.Thr204Ala)
c.475A>G (p.Thr159Ala)
c.479+131A>G (n.479+131A>G)
1g.229432276T>GCA345147764ACTA1c.610A>C (p.Thr204Pro)
c.475A>C (p.Thr159Pro)
c.479+131A>C (n.479+131A>C)
1g.229432277C>ACA423755307ACTA1c.609G>T (p.Val203=)
c.474G>T (p.Val158=)
c.479+130G>T (n.479+130G>T)
1g.229432277C>GCA423755309ACTA1c.609G>C (p.Val203=)
c.474G>C (p.Val158=)
c.479+130G>C (n.479+130G>C)
1g.229432277C>TCA423755311ACTA1c.609G>A (p.Val203=)
c.474G>A (p.Val158=)
c.479+130G>A (n.479+130G>A)
1g.229432278A=CA1226125722ACTA1c.608T= (p.Val203=)
c.473T= (p.Val158=)
c.479+129T= (n.479+129T=)
1g.229432278A>CCA345147768ACTA1c.608T>G (p.Val203Gly)
c.473T>G (p.Val158Gly)
c.479+129T>G (n.479+129T>G)
1g.229432278A>GCA1442840ACTA1c.608T>C (p.Val203Ala)
c.473T>C (p.Val158Ala)
c.479+129T>C (n.479+129T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432278A>TCA345147779ACTA1c.608T>A (p.Val203Glu)
c.473T>A (p.Val158Glu)
c.479+129T>A (n.479+129T>A)
1g.229432279C>ACA345147783ACTA1c.607G>T (p.Val203Leu)
c.472G>T (p.Val158Leu)
c.479+128G>T (n.479+128G>T)
1g.229432279C>GCA345147793ACTA1c.607G>C (p.Val203Leu)
c.472G>C (p.Val158Leu)
c.479+128G>C (n.479+128G>C)
1g.229432279C>TCA345147791ACTA1c.607G>A (p.Val203Met)
c.472G>A (p.Val158Met)
c.479+128G>A (n.479+128G>A)
 gnomAD v4
1g.229432280G>ACA423755320ACTA1c.606C>T (p.Phe202=)
c.471C>T (p.Phe157=)
c.479+127C>T (n.479+127C>T)
1g.229432280G>CCA345147797ACTA1c.606C>G (p.Phe202Leu)
c.471C>G (p.Phe157Leu)
c.479+127C>G (n.479+127C>G)
1g.229432280G=CA1226125723ACTA1c.606C= (p.Phe202=)
c.471C= (p.Phe157=)
c.479+127C= (n.479+127C=)
1g.229432280G>TCA345147799ACTA1c.606C>A (p.Phe202Leu)
c.471C>A (p.Phe157Leu)
c.479+127C>A (n.479+127C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.229432280_229432289delCA2698260228ACTA1c.597_606del (p.Tyr200Ter)
c.462_471del (p.Tyr155Ter)
c.479+118_479+127del (n.479+118_479+127del)
 dbSNP
1g.229432281A>CCA345147808ACTA1c.605T>G (p.Phe202Cys)
c.470T>G (p.Phe157Cys)
c.479+126T>G (n.479+126T>G)
1g.229432281A>GCA345147811ACTA1c.605T>C (p.Phe202Ser)
c.470T>C (p.Phe157Ser)
c.479+126T>C (n.479+126T>C)
1g.229432281A>TCA345147812ACTA1c.605T>A (p.Phe202Tyr)
c.470T>A (p.Phe157Tyr)
c.479+126T>A (n.479+126T>A)
1g.229432282A>CCA345147813ACTA1c.604T>G (p.Phe202Val)
c.469T>G (p.Phe157Val)
c.479+125T>G (n.479+125T>G)
1g.229432282A>GCA345147817ACTA1c.604T>C (p.Phe202Leu)
c.469T>C (p.Phe157Leu)
c.479+125T>C (n.479+125T>C)
1g.229432282A>TCA345147823ACTA1c.604T>A (p.Phe202Ile)
c.469T>A (p.Phe157Ile)
c.479+125T>A (n.479+125T>A)
1g.229432283G>ACA423755330ACTA1c.603C>T (p.Ser201=)
c.468C>T (p.Ser156=)
c.479+124C>T (n.479+124C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229432283G>CCA423755331ACTA1c.603C>G (p.Ser201=)
c.468C>G (p.Ser156=)
c.479+124C>G (n.479+124C>G)
1g.229432283G=CA1226125724ACTA1c.603C= (p.Ser201=)
c.468C= (p.Ser156=)
c.479+124C= (n.479+124C=)
1g.229432283G>TCA423755332ACTA1c.603C>A (p.Ser201=)
c.468C>A (p.Ser156=)
c.479+124C>A (n.479+124C>A)
1g.229432284G>ACA345147829ACTA1c.602C>T (p.Ser201Phe)
c.467C>T (p.Ser156Phe)
c.479+123C>T (n.479+123C>T)
1g.229432284G>CCA345147830ACTA1c.602C>G (p.Ser201Cys)
c.467C>G (p.Ser156Cys)
c.479+123C>G (n.479+123C>G)
1g.229432284G>TCA345147833ACTA1c.602C>A (p.Ser201Tyr)
c.467C>A (p.Ser156Tyr)
c.479+123C>A (n.479+123C>A)
1g.229432285A>CCA345147849ACTA1c.601T>G (p.Ser201Ala)
c.466T>G (p.Ser156Ala)
c.479+122T>G (n.479+122T>G)
1g.229432285A>GCA345147853ACTA1c.601T>C (p.Ser201Pro)
c.466T>C (p.Ser156Pro)
c.479+122T>C (n.479+122T>C)
1g.229432285A>TCA345147846ACTA1c.601T>A (p.Ser201Thr)
c.466T>A (p.Ser156Thr)
c.479+122T>A (n.479+122T>A)
1g.229432286G>ACA423755337ACTA1c.600C>T (p.Tyr200=)
c.465C>T (p.Tyr155=)
c.479+121C>T (n.479+121C>T)
1g.229432286G>CCA345147857ACTA1c.600C>G (p.Tyr200Ter)
c.465C>G (p.Tyr155Ter)
c.479+121C>G (n.479+121C>G)
1g.229432286G>TCA345147863ACTA1c.600C>A (p.Tyr200Ter)
c.465C>A (p.Tyr155Ter)
c.479+121C>A (n.479+121C>A)
1g.229432287T>ACA345147864ACTA1c.599A>T (p.Tyr200Phe)
c.464A>T (p.Tyr155Phe)
c.479+120A>T (n.479+120A>T)
1g.229432287T>CCA345147865ACTA1c.599A>G (p.Tyr200Cys)
c.464A>G (p.Tyr155Cys)
c.479+120A>G (n.479+120A>G)
 ClinVar dbSNP
1g.229432287T>GCA345147867ACTA1c.599A>C (p.Tyr200Ser)
c.464A>C (p.Tyr155Ser)
c.479+120A>C (n.479+120A>C)
1g.229432288A=CA1226125725ACTA1c.598T= (p.Tyr200=)
c.463T= (p.Tyr155=)
c.479+119T= (n.479+119T=)
1g.229432288A>CCA345147869ACTA1c.598T>G (p.Tyr200Asp)
c.463T>G (p.Tyr155Asp)
c.479+119T>G (n.479+119T>G)
1g.229432288A>GCA345147877ACTA1c.598T>C (p.Tyr200His)
c.463T>C (p.Tyr155His)
c.479+119T>C (n.479+119T>C)
1g.229432288A>TCA345147880ACTA1c.598T>A (p.Tyr200Asn)
c.463T>A (p.Tyr155Asn)
c.479+119T>A (n.479+119T>A)
 ClinVar dbSNP
1g.229432289G>ACA423755344ACTA1c.597C>T (p.Gly199=)
c.462C>T (p.Gly154=)
c.479+118C>T (n.479+118C>T)
1g.229432289G>CCA423755347ACTA1c.597C>G (p.Gly199=)
c.462C>G (p.Gly154=)
c.479+118C>G (n.479+118C>G)
1g.229432289G=CA1226125726ACTA1c.597C= (p.Gly199=)
c.462C= (p.Gly154=)
c.479+118C= (n.479+118C=)
1g.229432289G>TCA423755345ACTA1c.597C>A (p.Gly199=)
c.462C>A (p.Gly154=)
c.479+118C>A (n.479+118C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.229432290C>ACA345147881ACTA1c.596G>T (p.Gly199Val)
c.461G>T (p.Gly154Val)
c.479+117G>T (n.479+117G>T)
1g.229432290C>GCA345147882ACTA1c.596G>C (p.Gly199Ala)
c.461G>C (p.Gly154Ala)
c.479+117G>C (n.479+117G>C)
1g.229432290C>TCA345147885ACTA1c.596G>A (p.Gly199Asp)
c.461G>A (p.Gly154Asp)
c.479+117G>A (n.479+117G>A)
1g.229432291C>ACA345147889ACTA1c.595G>T (p.Gly199Cys)
c.460G>T (p.Gly154Cys)
c.479+116G>T (n.479+116G>T)
1g.229432291C>GCA345147892ACTA1c.595G>C (p.Gly199Arg)
c.460G>C (p.Gly154Arg)
c.479+116G>C (n.479+116G>C)
1g.229432291C>TCA345147893ACTA1c.595G>A (p.Gly199Ser)
c.460G>A (p.Gly154Ser)
c.479+116G>A (n.479+116G>A)
1g.229432292A=CA1226125727ACTA1c.594T= (p.Arg198=)
c.459T= (p.Arg153=)
c.479+115T= (n.479+115T=)
1g.229432292A>CCA423755351ACTA1c.594T>G (p.Arg198=)
c.459T>G (p.Arg153=)
c.479+115T>G (n.479+115T>G)
1g.229432292A>GCA423755352ACTA1c.594T>C (p.Arg198=)
c.459T>C (p.Arg153=)
c.479+115T>C (n.479+115T>C)
1g.229432292A>TCA423755353ACTA1c.594T>A (p.Arg198=)
c.459T>A (p.Arg153=)
c.479+115T>A (n.479+115T>A)
 dbSNP
1g.229432293C>ACA345147899ACTA1c.593G>T (p.Arg198Leu)
c.458G>T (p.Arg153Leu)
c.479+114G>T (n.479+114G>T)
1g.229432293C>GCA345147894ACTA1c.593G>C (p.Arg198Pro)
c.458G>C (p.Arg153Pro)
c.479+114G>C (n.479+114G>C)
1g.229432293C>TCA345147895ACTA1c.593G>A (p.Arg198His)
c.458G>A (p.Arg153His)
c.479+114G>A (n.479+114G>A)
 ClinVar
1g.229432294G>ACA345147910ACTA1c.592C>T (p.Arg198Cys)
c.457C>T (p.Arg153Cys)
c.479+113C>T (n.479+113C>T)
 ClinVar dbSNP COSMIC
1g.229432294G>CCA345147914ACTA1c.592C>G (p.Arg198Gly)
c.457C>G (p.Arg153Gly)
c.479+113C>G (n.479+113C>G)
1g.229432294G=CA1226125728ACTA1c.592C= (p.Arg198=)
c.457C= (p.Arg153=)
c.479+113C= (n.479+113C=)
1g.229432294G>TCA345147924ACTA1c.592C>A (p.Arg198Ser)
c.457C>A (p.Arg153Ser)
c.479+113C>A (n.479+113C>A)
 dbSNP
1g.229432295C>ACA353465ACTA1c.591G>T (p.Glu197Asp)
c.456G>T (p.Glu152Asp)
c.479+112G>T (n.479+112G>T)
 ClinVar dbSNP
1g.229432295C=CA1226125729ACTA1c.591G= (p.Glu197=)
c.456G= (p.Glu152=)
c.479+112G= (n.479+112G=)
1g.229432295C>GCA345147944ACTA1c.591G>C (p.Glu197Asp)
c.456G>C (p.Glu152Asp)
c.479+112G>C (n.479+112G>C)
 ClinVar dbSNP
1g.229432295C>TCA423755361ACTA1c.591G>A (p.Glu197=)
c.456G>A (p.Glu152=)
c.479+112G>A (n.479+112G>A)
 gnomAD v4
1g.229432296T>ACA345147950ACTA1c.590A>T (p.Glu197Val)
c.455A>T (p.Glu152Val)
c.479+111A>T (n.479+111A>T)
1g.229432296T>CCA345147954ACTA1c.590A>G (p.Glu197Gly)
c.455A>G (p.Glu152Gly)
c.479+111A>G (n.479+111A>G)
1g.229432296T>GCA345147971ACTA1c.590A>C (p.Glu197Ala)
c.455A>C (p.Glu152Ala)
c.479+111A>C (n.479+111A>C)
1g.229432296_229432305delinsTCAGTGAGGACA1226125730ACTA1c.581_590delinsTCCTCACTGA (p.Ile194=)
c.446_455delinsTCCTCACTGA (p.Ile149=)
c.479+102_479+111delinsTCCTCACTGA (n.479+102_479+111delinsTCCTCACTGA)
1g.229432297C>ACA345147984ACTA1c.589G>T (p.Glu197Ter)
c.454G>T (p.Glu152Ter)
c.479+110G>T (n.479+110G>T)
1g.229432297C>GCA345147987ACTA1c.589G>C (p.Glu197Gln)
c.454G>C (p.Glu152Gln)
c.479+110G>C (n.479+110G>C)
1g.229432297C>TCA345147989ACTA1c.589G>A (p.Glu197Lys)
c.454G>A (p.Glu152Lys)
c.479+110G>A (n.479+110G>A)
1g.229432297_229432305delCA915940831ACTA1c.581_589del (p.Ile194_Glu197delinsLys)
c.446_454del (p.Ile149_Glu152delinsLys)
c.479+102_479+110del (n.479+102_479+110del)
 ClinVar dbSNP
1g.229432298A=CA1226125731ACTA1c.588T= (p.Thr196=)
c.453T= (p.Thr151=)
c.479+109T= (n.479+109T=)
1g.229432298A>CCA423755367ACTA1c.588T>G (p.Thr196=)
c.453T>G (p.Thr151=)
c.479+109T>G (n.479+109T>G)
1g.229432298A>GCA38815865ACTA1c.588T>C (p.Thr196=)
c.453T>C (p.Thr151=)
c.479+109T>C (n.479+109T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229432298A>TCA423755368ACTA1c.588T>A (p.Thr196=)
c.453T>A (p.Thr151=)
c.479+109T>A (n.479+109T>A)
 dbSNP gnomAD v4
1g.229432299G>ACA345148018ACTA1c.587C>T (p.Thr196Ile)
c.452C>T (p.Thr151Ile)
c.479+108C>T (n.479+108C>T)
 ClinVar dbSNP
1g.229432299G>CCA345148002ACTA1c.587C>G (p.Thr196Ser)
c.452C>G (p.Thr151Ser)
c.479+108C>G (n.479+108C>G)
1g.229432299G>TCA345147999ACTA1c.587C>A (p.Thr196Asn)
c.452C>A (p.Thr151Asn)
c.479+108C>A (n.479+108C>A)
1g.229432300T>ACA345148036ACTA1c.586A>T (p.Thr196Ser)
c.451A>T (p.Thr151Ser)
c.479+107A>T (n.479+107A>T)
1g.229432300T>CCA345148027ACTA1c.586A>G (p.Thr196Ala)
c.451A>G (p.Thr151Ala)
c.479+107A>G (n.479+107A>G)
 COSMIC
1g.229432300T>GCA345148031ACTA1c.586A>C (p.Thr196Pro)
c.451A>C (p.Thr151Pro)
c.479+107A>C (n.479+107A>C)
 ClinVar
1g.229432301G>ACA423755373ACTA1c.585C>T (p.Leu195=)
c.450C>T (p.Leu150=)
c.479+106C>T (n.479+106C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229432301G>CCA423755370ACTA1c.585C>G (p.Leu195=)
c.450C>G (p.Leu150=)
c.479+106C>G (n.479+106C>G)
1g.229432301G=CA1226125732ACTA1c.585C= (p.Leu195=)
c.450C= (p.Leu150=)
c.479+106C= (n.479+106C=)
1g.229432301G>TCA423755371ACTA1c.585C>A (p.Leu195=)
c.450C>A (p.Leu150=)
c.479+106C>A (n.479+106C>A)
1g.229432302A>CCA345148045ACTA1c.584T>G (p.Leu195Arg)
c.449T>G (p.Leu150Arg)
c.479+105T>G (n.479+105T>G)
1g.229432302A>GCA345148049ACTA1c.584T>C (p.Leu195Pro)
c.449T>C (p.Leu150Pro)
c.479+105T>C (n.479+105T>C)
1g.229432302A>TCA345148052ACTA1c.584T>A (p.Leu195His)
c.449T>A (p.Leu150His)
c.479+105T>A (n.479+105T>A)
1g.229432303G>ACA345148055ACTA1c.583C>T (p.Leu195Phe)
c.448C>T (p.Leu150Phe)
c.479+104C>T (n.479+104C>T)
 gnomAD v4
1g.229432303G>CCA345148056ACTA1c.583C>G (p.Leu195Val)
c.448C>G (p.Leu150Val)
c.479+104C>G (n.479+104C>G)
 ClinVar dbSNP
1g.229432303G>TCA345148057ACTA1c.583C>A (p.Leu195Ile)
c.448C>A (p.Leu150Ile)
c.479+104C>A (n.479+104C>A)
1g.229432304delCA2650926671ACTA1c.583del (p.Leu195SerfsTer9)
c.448del (p.Leu150SerfsTer9)
c.479+104del (n.479+104del)
 gnomAD v4
1g.229432304G>ACA423755379ACTA1c.582C>T (p.Ile194=)
c.447C>T (p.Ile149=)
c.479+103C>T (n.479+103C>T)
 COSMIC
1g.229432304G>CCA345148058ACTA1c.582C>G (p.Ile194Met)
c.447C>G (p.Ile149Met)
c.479+103C>G (n.479+103C>G)
1g.229432304G>TCA423755377ACTA1c.582C>A (p.Ile194=)
c.447C>A (p.Ile149=)
c.479+103C>A (n.479+103C>A)
1g.229432305A>CCA345148075ACTA1c.581T>G (p.Ile194Ser)
c.446T>G (p.Ile149Ser)
c.479+102T>G (n.479+102T>G)
 gnomAD v4
1g.229432305A>GCA345148090ACTA1c.581T>C (p.Ile194Thr)
c.446T>C (p.Ile149Thr)
c.479+102T>C (n.479+102T>C)
 gnomAD v4
1g.229432305A>TCA345148095ACTA1c.581T>A (p.Ile194Asn)
c.446T>A (p.Ile149Asn)
c.479+102T>A (n.479+102T>A)
1g.229432306T>ACA345148100ACTA1c.580A>T (p.Ile194Phe)
c.445A>T (p.Ile149Phe)
c.479+101A>T (n.479+101A>T)
1g.229432306T>CCA345148103ACTA1c.580A>G (p.Ile194Val)
c.445A>G (p.Ile149Val)
c.479+101A>G (n.479+101A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.229432306T>GCA345148099ACTA1c.580A>C (p.Ile194Leu)
c.445A>C (p.Ile149Leu)
c.479+101A>C (n.479+101A>C)
1g.229432306T=CA1226125733ACTA1c.580A= (p.Ile194=)
c.445A= (p.Ile149=)
c.479+101A= (n.479+101A=)
1g.229432307_229432308delCA2650926672ACTA1c.579_580del (p.Lys193AsnfsTer4)
c.444_445del (p.Lys148AsnfsTer4)
c.479+100_479+101del (n.479+100_479+101del)
 gnomAD v4
1g.229432307C>ACA345148108ACTA1c.579G>T (p.Lys193Asn)
c.444G>T (p.Lys148Asn)
c.479+100G>T (n.479+100G>T)
1g.229432307C=CA1226125734ACTA1c.579G= (p.Lys193=)
c.444G= (p.Lys148=)
c.479+100G= (n.479+100G=)
1g.229432307C>GCA345148111ACTA1c.579G>C (p.Lys193Asn)
c.444G>C (p.Lys148Asn)
c.479+100G>C (n.479+100G>C)
1g.229432307C>TCA423755387ACTA1c.579G>A (p.Lys193=)
c.444G>A (p.Lys148=)
c.479+100G>A (n.479+100G>A)
 dbSNP
1g.229432308T>ACA345148116ACTA1c.578A>T (p.Lys193Met)
c.443A>T (p.Lys148Met)
c.479+99A>T (n.479+99A>T)
1g.229432308T>CCA345148124ACTA1c.578A>G (p.Lys193Arg)
c.443A>G (p.Lys148Arg)
c.479+99A>G (n.479+99A>G)
1g.229432308T>GCA345148127ACTA1c.578A>C (p.Lys193Thr)
c.443A>C (p.Lys148Thr)
c.479+99A>C (n.479+99A>C)
1g.229432308_229432311delinsTTCACA1226125735ACTA1c.575_578delinsTGAA (p.Met192=)
c.440_443delinsTGAA (p.Met147=)
c.479+96_479+99delinsTGAA (n.479+96_479+99delinsTGAA)
1g.229432309T>ACA345148143ACTA1c.577A>T (p.Lys193Ter)
c.442A>T (p.Lys148Ter)
c.479+98A>T (n.479+98A>T)
1g.229432309T>CCA345148135ACTA1c.577A>G (p.Lys193Glu)
c.442A>G (p.Lys148Glu)
c.479+98A>G (n.479+98A>G)
1g.229432309T>GCA345148137ACTA1c.577A>C (p.Lys193Gln)
c.442A>C (p.Lys148Gln)
c.479+98A>C (n.479+98A>C)
1g.229432312_229432314delCA732580649ACTA1c.575_577del (p.Met192del)
c.440_442del (p.Met147del)
c.479+96_479+98del (n.479+96_479+98del)
 dbSNP gnomAD v3 gnomAD v4
1g.229432310C>ACA345148144ACTA1c.576G>T (p.Met192Ile)
c.441G>T (p.Met147Ile)
c.479+97G>T (n.479+97G>T)
1g.229432310C>GCA345148146ACTA1c.576G>C (p.Met192Ile)
c.441G>C (p.Met147Ile)
c.479+97G>C (n.479+97G>C)
1g.229432310C>TCA345148149ACTA1c.576G>A (p.Met192Ile)
c.441G>A (p.Met147Ile)
c.479+97G>A (n.479+97G>A)
 gnomAD v4
1g.229432311A=CA1226125736ACTA1c.575T= (p.Met192=)
c.440T= (p.Met147=)
c.479+96T= (n.479+96T=)
1g.229432311A>CCA345148157ACTA1c.575T>G (p.Met192Arg)
c.440T>G (p.Met147Arg)
c.479+96T>G (n.479+96T>G)
1g.229432311A>GCA16603576ACTA1c.575T>C (p.Met192Thr)
c.440T>C (p.Met147Thr)
c.479+96T>C (n.479+96T>C)
 ClinVar dbSNP
1g.229432311A>TCA345148160ACTA1c.575T>A (p.Met192Lys)
c.440T>A (p.Met147Lys)
c.479+96T>A (n.479+96T>A)
 gnomAD v4
1g.229432312delCA2650926673ACTA1c.574del (p.Met192Ter)
c.439del (p.Met147Ter)
c.479+95del (n.479+95del)
 gnomAD v4
1g.229432312T>ACA345148170ACTA1c.574A>T (p.Met192Leu)
c.439A>T (p.Met147Leu)
c.479+95A>T (n.479+95A>T)
1g.229432312T>CCA345148174ACTA1c.574A>G (p.Met192Val)
c.439A>G (p.Met147Val)
c.479+95A>G (n.479+95A>G)
1g.229432312T>GCA345148165ACTA1c.574A>C (p.Met192Leu)
c.439A>C (p.Met147Leu)
c.479+95A>C (n.479+95A>C)
1g.229432313C>ACA423755392ACTA1c.573G>T (p.Leu191=)
c.438G>T (p.Leu146=)
c.479+94G>T (n.479+94G>T)
 dbSNP
1g.229432313C=CA1226125737ACTA1c.573G= (p.Leu191=)
c.438G= (p.Leu146=)
c.479+94G= (n.479+94G=)
1g.229432313C>GCA423755393ACTA1c.573G>C (p.Leu191=)
c.438G>C (p.Leu146=)
c.479+94G>C (n.479+94G>C)
1g.229432313C>TCA423755396ACTA1c.573G>A (p.Leu191=)
c.438G>A (p.Leu146=)
c.479+94G>A (n.479+94G>A)
 gnomAD v4
1g.229432314A>CCA345148178ACTA1c.572T>G (p.Leu191Arg)
c.437T>G (p.Leu146Arg)
c.479+93T>G (n.479+93T>G)
1g.229432314A>GCA345148180ACTA1c.572T>C (p.Leu191Pro)
c.437T>C (p.Leu146Pro)
c.479+93T>C (n.479+93T>C)
1g.229432314A>TCA345148179ACTA1c.572T>A (p.Leu191Gln)
c.437T>A (p.Leu146Gln)
c.479+93T>A (n.479+93T>A)
1g.229432314_229432315insATCA2698260341ACTA1c.571_572insAT (p.Leu191HisfsTer2)
c.436_437insAT (p.Leu146HisfsTer2)
c.479+92_479+93insAT (n.479+92_479+93insAT)
 dbSNP
1g.229432315G>ACA423755399ACTA1c.571C>T (p.Leu191=)
c.436C>T (p.Leu146=)
c.479+92C>T (n.479+92C>T)
1g.229432315G>CCA345148184ACTA1c.571C>G (p.Leu191Val)
c.436C>G (p.Leu146Val)
c.479+92C>G (n.479+92C>G)
1g.229432315G>TCA345148195ACTA1c.571C>A (p.Leu191Met)
c.436C>A (p.Leu146Met)
c.479+92C>A (n.479+92C>A)
1g.229432316G>ACA423755401ACTA1c.570C>T (p.Tyr190=)
c.435C>T (p.Tyr145=)
c.479+91C>T (n.479+91C>T)
 gnomAD v4
1g.229432316G>CCA345148199ACTA1c.570C>G (p.Tyr190Ter)
c.435C>G (p.Tyr145Ter)
c.479+91C>G (n.479+91C>G)
1g.229432316G>TCA345148200ACTA1c.570C>A (p.Tyr190Ter)
c.435C>A (p.Tyr145Ter)
c.479+91C>A (n.479+91C>A)
1g.229432316_229432317delCA2698260386ACTA1c.569_570del (p.Tyr190SerfsTer7)
c.434_435del (p.Tyr145SerfsTer7)
c.479+90_479+91del (n.479+90_479+91del)
 dbSNP
1g.229432317T>ACA345148202ACTA1c.569A>T (p.Tyr190Phe)
c.434A>T (p.Tyr145Phe)
c.479+90A>T (n.479+90A>T)
1g.229432317T>CCA345148203ACTA1c.569A>G (p.Tyr190Cys)
c.434A>G (p.Tyr145Cys)
c.479+90A>G (n.479+90A>G)
1g.229432317T>GCA345148208ACTA1c.569A>C (p.Tyr190Ser)
c.434A>C (p.Tyr145Ser)
c.479+90A>C (n.479+90A>C)
1g.229432318A=CA1226125738ACTA1c.568T= (p.Tyr190=)
c.433T= (p.Tyr145=)
c.479+89T= (n.479+89T=)
1g.229432318A>CCA345148224ACTA1c.568T>G (p.Tyr190Asp)
c.433T>G (p.Tyr145Asp)
c.479+89T>G (n.479+89T>G)
1g.229432318A>GCA345148227ACTA1c.568T>C (p.Tyr190His)
c.433T>C (p.Tyr145His)
c.479+89T>C (n.479+89T>C)
 dbSNP
1g.229432318A>TCA345148231ACTA1c.568T>A (p.Tyr190Asn)
c.433T>A (p.Tyr145Asn)
c.479+89T>A (n.479+89T>A)
1g.229432319G>ACA423755409ACTA1c.567C>T (p.Asp189=)
c.432C>T (p.Asp144=)
c.479+88C>T (n.479+88C>T)
 dbSNP
1g.229432319G>CCA345148239ACTA1c.567C>G (p.Asp189Glu)
c.432C>G (p.Asp144Glu)
c.479+88C>G (n.479+88C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.229432319G=CA1226125739ACTA1c.567C= (p.Asp189=)
c.432C= (p.Asp144=)
c.479+88C= (n.479+88C=)
1g.229432319G>TCA345148243ACTA1c.567C>A (p.Asp189Glu)
c.432C>A (p.Asp144Glu)
c.479+88C>A (n.479+88C>A)
1g.229432320T>ACA345148245ACTA1c.566A>T (p.Asp189Val)
c.431A>T (p.Asp144Val)
c.479+87A>T (n.479+87A>T)
1g.229432320T>CCA345148250ACTA1c.566A>G (p.Asp189Gly)
c.431A>G (p.Asp144Gly)
c.479+87A>G (n.479+87A>G)
 gnomAD v4
1g.229432320T>GCA345148248ACTA1c.566A>C (p.Asp189Ala)
c.431A>C (p.Asp144Ala)
c.479+87A>C (n.479+87A>C)
1g.229432321C>ACA345148255ACTA1c.565G>T (p.Asp189Tyr)
c.430G>T (p.Asp144Tyr)
c.479+86G>T (n.479+86G>T)
1g.229432321C>GCA345148256ACTA1c.565G>C (p.Asp189His)
c.430G>C (p.Asp144His)
c.479+86G>C (n.479+86G>C)
1g.229432321C>TCA345148257ACTA1c.565G>A (p.Asp189Asn)
c.430G>A (p.Asp144Asn)
c.479+86G>A (n.479+86G>A)
1g.229432322G>ACA423754948ACTA1c.564C>T (p.Thr188=)
c.429C>T (p.Thr143=)
c.479+85C>T (n.479+85C>T)
 dbSNP
1g.229432322G>CCA423754949ACTA1c.564C>G (p.Thr188=)
c.429C>G (p.Thr143=)
c.479+85C>G (n.479+85C>G)
1g.229432322G=CA1226125740ACTA1c.564C= (p.Thr188=)
c.429C= (p.Thr143=)
c.479+85C= (n.479+85C=)
1g.229432322G>TCA423754951ACTA1c.564C>A (p.Thr188=)
c.429C>A (p.Thr143=)
c.479+85C>A (n.479+85C>A)
 gnomAD v4 COSMIC
1g.229432323G>ACA345148258ACTA1c.563C>T (p.Thr188Ile)
c.428C>T (p.Thr143Ile)
c.479+84C>T (n.479+84C>T)
1g.229432323G>CCA345148259ACTA1c.563C>G (p.Thr188Ser)
c.428C>G (p.Thr143Ser)
c.479+84C>G (n.479+84C>G)
1g.229432323G>TCA345148260ACTA1c.563C>A (p.Thr188Asn)
c.428C>A (p.Thr143Asn)
c.479+84C>A (n.479+84C>A)
1g.229432324T>ACA345148261ACTA1c.562A>T (p.Thr188Ser)
c.427A>T (p.Thr143Ser)
c.479+83A>T (n.479+83A>T)
1g.229432324T>CCA345148262ACTA1c.562A>G (p.Thr188Ala)
c.427A>G (p.Thr143Ala)
c.479+83A>G (n.479+83A>G)
 gnomAD v4
1g.229432324T>GCA345148263ACTA1c.562A>C (p.Thr188Pro)
c.427A>C (p.Thr143Pro)
c.479+83A>C (n.479+83A>C)
1g.229432325G>ACA423754955ACTA1c.561C>T (p.Leu187=)
c.426C>T (p.Leu142=)
c.479+82C>T (n.479+82C>T)
 dbSNP
1g.229432325G>CCA423754957ACTA1c.561C>G (p.Leu187=)
c.426C>G (p.Leu142=)
c.479+82C>G (n.479+82C>G)
1g.229432325G=CA1226125741ACTA1c.561C= (p.Leu187=)
c.426C= (p.Leu142=)
c.479+82C= (n.479+82C=)
1g.229432325G>TCA423754960ACTA1c.561C>A (p.Leu187=)
c.426C>A (p.Leu142=)
c.479+82C>A (n.479+82C>A)
 dbSNP
1g.229432326A>CCA345148265ACTA1c.560T>G (p.Leu187Arg)
c.425T>G (p.Leu142Arg)
c.479+81T>G (n.479+81T>G)
1g.229432326A>GCA345148266ACTA1c.560T>C (p.Leu187Pro)
c.425T>C (p.Leu142Pro)
c.479+81T>C (n.479+81T>C)
1g.229432326A>TCA345148264ACTA1c.560T>A (p.Leu187His)
c.425T>A (p.Leu142His)
c.479+81T>A (n.479+81T>A)
1g.229432327G>ACA345148267ACTA1c.559C>T (p.Leu187Phe)
c.424C>T (p.Leu142Phe)
c.479+80C>T (n.479+80C>T)
1g.229432327G>CCA345148268ACTA1c.559C>G (p.Leu187Val)
c.424C>G (p.Leu142Val)
c.479+80C>G (n.479+80C>G)
1g.229432327G>TCA345148269ACTA1c.559C>A (p.Leu187Ile)
c.424C>A (p.Leu142Ile)
c.479+80C>A (n.479+80C>A)
1g.229432327_229432328delinsGACA1226125742ACTA1c.558_559delinsTC (p.Asp186=)
c.423_424delinsTC (p.Asp141=)
c.479+79_479+80delinsTC (n.479+79_479+80delinsTC)
1g.229432328delCA1226125743ACTA1c.558del (p.Leu187SerfsTer5)
c.423del (p.Leu142SerfsTer5)
c.479+79del (n.479+79del)
 dbSNP gnomAD v4
1g.229432328A=CA1226125744ACTA1c.558T= (p.Asp186=)
c.423T= (p.Asp141=)
c.479+79T= (n.479+79T=)
1g.229432328A>CCA345148270ACTA1c.558T>G (p.Asp186Glu)
c.423T>G (p.Asp141Glu)
c.479+79T>G (n.479+79T>G)
1g.229432328A>GCA423754965ACTA1c.558T>C (p.Asp186=)
c.423T>C (p.Asp141=)
c.479+79T>C (n.479+79T>C)
 dbSNP gnomAD v4
1g.229432328A>TCA345148271ACTA1c.558T>A (p.Asp186Glu)
c.423T>A (p.Asp141Glu)
c.479+79T>A (n.479+79T>A)
1g.229432329T>ACA345148272ACTA1c.557A>T (p.Asp186Val)
c.422A>T (p.Asp141Val)
c.479+78A>T (n.479+78A>T)
1g.229432329T>CCA345148273ACTA1c.557A>G (p.Asp186Gly)
c.422A>G (p.Asp141Gly)
c.479+78A>G (n.479+78A>G)
 ClinVar dbSNP
1g.229432329T>GCA345148274ACTA1c.557A>C (p.Asp186Ala)
c.422A>C (p.Asp141Ala)
c.479+78A>C (n.479+78A>C)
1g.229432329T=CA1226125745ACTA1c.557A= (p.Asp186=)
c.422A= (p.Asp141=)
c.479+78A= (n.479+78A=)
1g.229432330C>ACA345148275ACTA1c.556G>T (p.Asp186Tyr)
c.421G>T (p.Asp141Tyr)
c.479+77G>T (n.479+77G>T)
1g.229432330C>GCA345148276ACTA1c.556G>C (p.Asp186His)
c.421G>C (p.Asp141His)
c.479+77G>C (n.479+77G>C)
 ClinVar
1g.229432330C>TCA345148277ACTA1c.556G>A (p.Asp186Asn)
c.421G>A (p.Asp141Asn)
c.479+77G>A (n.479+77G>A)
 ClinVar dbSNP
1g.229432331G>ACA1442841ACTA1c.555C>T (p.Arg185=)
c.420C>T (p.Arg140=)
c.479+76C>T (n.479+76C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432331G>CCA423754973ACTA1c.555C>G (p.Arg185=)
c.420C>G (p.Arg140=)
c.479+76C>G (n.479+76C>G)
1g.229432331G=CA1226125746ACTA1c.555C= (p.Arg185=)
c.420C= (p.Arg140=)
c.479+76C= (n.479+76C=)
1g.229432331G>TCA423754974ACTA1c.555C>A (p.Arg185=)
c.420C>A (p.Arg140=)
c.479+76C>A (n.479+76C>A)
 ClinVar dbSNP
1g.229432332C>ACA345148279ACTA1c.554G>T (p.Arg185Leu)
c.419G>T (p.Arg140Leu)
c.479+75G>T (n.479+75G>T)
1g.229432332C>GCA345148280ACTA1c.554G>C (p.Arg185Pro)
c.419G>C (p.Arg140Pro)
c.479+75G>C (n.479+75G>C)
1g.229432332C>TCA345148278ACTA1c.554G>A (p.Arg185His)
c.419G>A (p.Arg140His)
c.479+75G>A (n.479+75G>A)
1g.229432333G>ACA345148281ACTA1c.553C>T (p.Arg185Cys)
c.418C>T (p.Arg140Cys)
c.479+74C>T (n.479+74C>T)
 ClinVar dbSNP
1g.229432333G>CCA345148282ACTA1c.553C>G (p.Arg185Gly)
c.418C>G (p.Arg140Gly)
c.479+74C>G (n.479+74C>G)
1g.229432333G=CA1226125747ACTA1c.553C= (p.Arg185=)
c.418C= (p.Arg140=)
c.479+74C= (n.479+74C=)
1g.229432333G>TCA16617084ACTA1c.553C>A (p.Arg185Ser)
c.418C>A (p.Arg140Ser)
c.479+74C>A (n.479+74C>A)
 ClinVar dbSNP
1g.229432334G>ACA423754979ACTA1c.552C>T (p.Gly184=)
c.417C>T (p.Gly139=)
c.479+73C>T (n.479+73C>T)
 dbSNP
1g.229432334G>CCA423754980ACTA1c.552C>G (p.Gly184=)
c.417C>G (p.Gly139=)
c.479+73C>G (n.479+73C>G)
1g.229432334G=CA1226125748ACTA1c.552C= (p.Gly184=)
c.417C= (p.Gly139=)
c.479+73C= (n.479+73C=)
1g.229432334G>TCA423754982ACTA1c.552C>A (p.Gly184=)
c.417C>A (p.Gly139=)
c.479+73C>A (n.479+73C>A)
1g.229432335C>ACA345148287ACTA1c.551G>T (p.Gly184Val)
c.416G>T (p.Gly139Val)
c.479+72G>T (n.479+72G>T)
1g.229432335C>GCA345148298ACTA1c.551G>C (p.Gly184Ala)
c.416G>C (p.Gly139Ala)
c.479+72G>C (n.479+72G>C)
1g.229432335C>TCA345148301ACTA1c.551G>A (p.Gly184Asp)
c.416G>A (p.Gly139Asp)
c.479+72G>A (n.479+72G>A)
 ClinVar
1g.229432336C>ACA345148304ACTA1c.550G>T (p.Gly184Cys)
c.415G>T (p.Gly139Cys)
c.479+71G>T (n.479+71G>T)
1g.229432336C>GCA345148307ACTA1c.550G>C (p.Gly184Arg)
c.415G>C (p.Gly139Arg)
c.479+71G>C (n.479+71G>C)
1g.229432336C>TCA345148306ACTA1c.550G>A (p.Gly184Ser)
c.415G>A (p.Gly139Ser)
c.479+71G>A (n.479+71G>A)
 COSMIC
1g.229432337C>ACA423754986ACTA1c.549G>T (p.Ala183=)
c.414G>T (p.Ala138=)
c.479+70G>T (n.479+70G>T)
 dbSNP
1g.229432337C=CA1143395655ACTA1c.549G= (p.Ala183=)
c.414G= (p.Ala138=)
c.479+70G= (n.479+70G=)
1g.229432337C>GCA423754987ACTA1c.549G>C (p.Ala183=)
c.414G>C (p.Ala138=)
c.479+70G>C (n.479+70G>C)
 dbSNP
1g.229432337C>TCA1442842ACTA1c.549G>A (p.Ala183=)
c.414G>A (p.Ala138=)
c.479+70G>A (n.479+70G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432338G>ACA345148308ACTA1c.548C>T (p.Ala183Val)
c.413C>T (p.Ala138Val)
c.479+69C>T (n.479+69C>T)
1g.229432338G>CCA345148309ACTA1c.548C>G (p.Ala183Gly)
c.413C>G (p.Ala138Gly)
c.479+69C>G (n.479+69C>G)
1g.229432338G>TCA345148310ACTA1c.548C>A (p.Ala183Glu)
c.413C>A (p.Ala138Glu)
c.479+69C>A (n.479+69C>A)
 gnomAD v4
1g.229432339C>ACA345148311ACTA1c.547G>T (p.Ala183Ser)
c.412G>T (p.Ala138Ser)
c.479+68G>T (n.479+68G>T)
1g.229432339C>GCA345148313ACTA1c.547G>C (p.Ala183Pro)
c.412G>C (p.Ala138Pro)
c.479+68G>C (n.479+68G>C)
1g.229432339C>TCA345148312ACTA1c.547G>A (p.Ala183Thr)
c.412G>A (p.Ala138Thr)
c.479+68G>A (n.479+68G>A)
1g.229432340C>ACA423754990ACTA1c.546G>T (p.Leu182=)
c.411G>T (p.Leu137=)
c.479+67G>T (n.479+67G>T)
 dbSNP
1g.229432340C=CA1143679791ACTA1c.546G= (p.Leu182=)
c.411G= (p.Leu137=)
c.479+67G= (n.479+67G=)
1g.229432340C>GCA423754991ACTA1c.546G>C (p.Leu182=)
c.411G>C (p.Leu137=)
c.479+67G>C (n.479+67G>C)
1g.229432340C>TCA1442843ACTA1c.546G>A (p.Leu182=)
c.411G>A (p.Leu137=)
c.479+67G>A (n.479+67G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432341A>CCA345148316ACTA1c.545T>G (p.Leu182Arg)
c.410T>G (p.Leu137Arg)
c.479+66T>G (n.479+66T>G)
1g.229432341A>GCA345148314ACTA1c.545T>C (p.Leu182Pro)
c.410T>C (p.Leu137Pro)
c.479+66T>C (n.479+66T>C)
1g.229432341A>TCA345148315ACTA1c.545T>A (p.Leu182Gln)
c.410T>A (p.Leu137Gln)
c.479+66T>A (n.479+66T>A)
1g.229432342G>ACA423754995ACTA1c.544C>T (p.Leu182=)
c.409C>T (p.Leu137=)
c.479+65C>T (n.479+65C>T)
1g.229432342G>CCA1442844ACTA1c.544C>G (p.Leu182Val)
c.409C>G (p.Leu137Val)
c.479+65C>G (n.479+65C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432342G=CA1226125749ACTA1c.544C= (p.Leu182=)
c.409C= (p.Leu137=)
c.479+65C= (n.479+65C=)
1g.229432342G>TCA345148317ACTA1c.544C>A (p.Leu182Met)
c.409C>A (p.Leu137Met)
c.479+65C>A (n.479+65C>A)
1g.229432343G>ACA423754998ACTA1c.543C>T (p.Asp181=)
c.408C>T (p.Asp136=)
c.479+64C>T (n.479+64C>T)
 COSMIC
1g.229432343G>CCA345148318ACTA1c.543C>G (p.Asp181Glu)
c.408C>G (p.Asp136Glu)
c.479+64C>G (n.479+64C>G)
1g.229432343G>TCA345148319ACTA1c.543C>A (p.Asp181Glu)
c.408C>A (p.Asp136Glu)
c.479+64C>A (n.479+64C>A)
 COSMIC
1g.229432344T>ACA345148320ACTA1c.542A>T (p.Asp181Val)
c.407A>T (p.Asp136Val)
c.479+63A>T (n.479+63A>T)
1g.229432344T>CCA345148321ACTA1c.542A>G (p.Asp181Gly)
c.407A>G (p.Asp136Gly)
c.479+63A>G (n.479+63A>G)
1g.229432344T>GCA345148322ACTA1c.542A>C (p.Asp181Ala)
c.407A>C (p.Asp136Ala)
c.479+63A>C (n.479+63A>C)
1g.229432344_229432345delinsTCCA1226125750ACTA1c.541_542delinsGA (p.Asp181=)
c.406_407delinsGA (p.Asp136=)
c.479+62_479+63delinsGA (n.479+62_479+63delinsGA)
1g.229432345C>ACA345148323ACTA1c.541G>T (p.Asp181Tyr)
c.406G>T (p.Asp136Tyr)
c.479+62G>T (n.479+62G>T)
1g.229432345C>GCA345148324ACTA1c.541G>C (p.Asp181His)
c.406G>C (p.Asp136His)
c.479+62G>C (n.479+62G>C)
 ClinVar
1g.229432345C>TCA345148325ACTA1c.541G>A (p.Asp181Asn)
c.406G>A (p.Asp136Asn)
c.479+62G>A (n.479+62G>A)
 COSMIC
1g.229432346delCA1442845ACTA1c.541del (p.Asp181ThrfsTer11)
c.406del (p.Asp136ThrfsTer11)
c.479+62del (n.479+62del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432346C>ACA423755009ACTA1c.540G>T (p.Leu180=)
c.405G>T (p.Leu135=)
c.479+61G>T (n.479+61G>T)
1g.229432346C>GCA423755007ACTA1c.540G>C (p.Leu180=)
c.405G>C (p.Leu135=)
c.479+61G>C (n.479+61G>C)
1g.229432346C>TCA423755005ACTA1c.540G>A (p.Leu180=)
c.405G>A (p.Leu135=)
c.479+61G>A (n.479+61G>A)
 dbSNP
1g.229432347A=CA1226125751ACTA1c.539T= (p.Leu180=)
c.404T= (p.Leu135=)
c.479+60T= (n.479+60T=)
1g.229432347A>CCA345148328ACTA1c.539T>G (p.Leu180Arg)
c.404T>G (p.Leu135Arg)
c.479+60T>G (n.479+60T>G)
 gnomAD v4
1g.229432347A>GCA345148327ACTA1c.539T>C (p.Leu180Pro)
c.404T>C (p.Leu135Pro)
c.479+60T>C (n.479+60T>C)
 ClinVar dbSNP
1g.229432347A>TCA345148326ACTA1c.539T>A (p.Leu180Gln)
c.404T>A (p.Leu135Gln)
c.479+60T>A (n.479+60T>A)
1g.229432348G>ACA423755013ACTA1c.538C>T (p.Leu180=)
c.403C>T (p.Leu135=)
c.479+59C>T (n.479+59C>T)
 ClinVar dbSNP
1g.229432348G>CCA345148329ACTA1c.538C>G (p.Leu180Val)
c.403C>G (p.Leu135Val)
c.479+59C>G (n.479+59C>G)
1g.229432348G>TCA345148330ACTA1c.538C>A (p.Leu180Met)
c.403C>A (p.Leu135Met)
c.479+59C>A (n.479+59C>A)
1g.229432349G>ACA423755017ACTA1c.537C>T (p.Arg179=)
c.402C>T (p.Arg134=)
c.479+58C>T (n.479+58C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.229432349G>CCA423755018ACTA1c.537C>G (p.Arg179=)
c.402C>G (p.Arg134=)
c.479+58C>G (n.479+58C>G)
1g.229432349G=CA1226125752ACTA1c.537C= (p.Arg179=)
c.402C= (p.Arg134=)
c.479+58C= (n.479+58C=)
1g.229432349G>TCA423755019ACTA1c.537C>A (p.Arg179=)
c.402C>A (p.Arg134=)
c.479+58C>A (n.479+58C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.229432350C>ACA233440ACTA1c.536G>T (p.Arg179Leu)
c.401G>T (p.Arg134Leu)
c.479+57G>T (n.479+57G>T)
 ClinVar dbSNP
1g.229432350C=CA1148225032ACTA1c.536G= (p.Arg179=)
c.401G= (p.Arg134=)
c.479+57G= (n.479+57G=)
1g.229432350C>GCA345148331ACTA1c.536G>C (p.Arg179Pro)
c.401G>C (p.Arg134Pro)
c.479+57G>C (n.479+57G>C)
1g.229432350C>TCA345148332ACTA1c.536G>A (p.Arg179His)
c.401G>A (p.Arg134His)
c.479+57G>A (n.479+57G>A)
 ClinVar
1g.229432351G>ACA345148337ACTA1c.535C>T (p.Arg179Cys)
c.400C>T (p.Arg134Cys)
c.479+56C>T (n.479+56C>T)
1g.229432351G>CCA345148341ACTA1c.535C>G (p.Arg179Gly)
c.400C>G (p.Arg134Gly)
c.479+56C>G (n.479+56C>G)
1g.229432351G>TCA345148343ACTA1c.535C>A (p.Arg179Ser)
c.400C>A (p.Arg134Ser)
c.479+56C>A (n.479+56C>A)
1g.229432352C>ACA345148345ACTA1c.534G>T (p.Met178Ile)
c.399G>T (p.Met133Ile)
c.479+55G>T (n.479+55G>T)
 gnomAD v4
1g.229432352C>GCA345148349ACTA1c.534G>C (p.Met178Ile)
c.399G>C (p.Met133Ile)
c.479+55G>C (n.479+55G>C)
1g.229432352C>TCA345148350ACTA1c.534G>A (p.Met178Ile)
c.399G>A (p.Met133Ile)
c.479+55G>A (n.479+55G>A)
1g.229432352_229432357delCA2650926674ACTA1c.529_534del (p.Ile177_Met178del)
c.394_399del (p.Ile132_Met133del)
c.479+50_479+55del (n.479+50_479+55del)
 gnomAD v4
1g.229432353A>CCA345148354ACTA1c.533T>G (p.Met178Arg)
c.398T>G (p.Met133Arg)
c.479+54T>G (n.479+54T>G)
1g.229432353A>GCA345148356ACTA1c.533T>C (p.Met178Thr)
c.398T>C (p.Met133Thr)
c.479+54T>C (n.479+54T>C)
1g.229432353A>TCA345148363ACTA1c.533T>A (p.Met178Lys)
c.398T>A (p.Met133Lys)
c.479+54T>A (n.479+54T>A)

Number of alleles fetched