Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018282T>ACA342133151HJVc.1076A>T (p.His359Leu)
c.398A>T (p.His133Leu)
c.737A>T (p.His246Leu)
1g.146018282T>CCA342133152HJVc.1076A>G (p.His359Arg)
c.398A>G (p.His133Arg)
c.737A>G (p.His246Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018282T>GCA342133153HJVc.1076A>C (p.His359Pro)
c.398A>C (p.His133Pro)
c.737A>C (p.His246Pro)
1g.146018282T=CA1198820904HJVc.1076A= (p.His359=)
c.398A= (p.His133=)
c.737A= (p.His246=)
1g.146018283G>ACA342133154HJVc.1075C>T (p.His359Tyr)
c.397C>T (p.His133Tyr)
c.736C>T (p.His246Tyr)
1g.146018283G>CCA342133158HJVc.1075C>G (p.His359Asp)
c.397C>G (p.His133Asp)
c.736C>G (p.His246Asp)
1g.146018283G>TCA342133161HJVc.1075C>A (p.His359Asn)
c.397C>A (p.His133Asn)
c.736C>A (p.His246Asn)
1g.146018284G>ACA420250245HJVc.1074C>T (p.Phe358=)
c.396C>T (p.Phe132=)
c.735C>T (p.Phe245=)
ClinVar dbSNP
1g.146018284G>CCA342133164HJVc.1074C>G (p.Phe358Leu)
c.396C>G (p.Phe132Leu)
c.735C>G (p.Phe245Leu)
1g.146018284G>TCA342133165HJVc.1074C>A (p.Phe358Leu)
c.396C>A (p.Phe132Leu)
c.735C>A (p.Phe245Leu)
1g.146018285A>CCA342133167HJVc.1073T>G (p.Phe358Cys)
c.395T>G (p.Phe132Cys)
c.734T>G (p.Phe245Cys)
1g.146018285A>GCA342133180HJVc.1073T>C (p.Phe358Ser)
c.395T>C (p.Phe132Ser)
c.734T>C (p.Phe245Ser)
1g.146018285A>TCA342133188HJVc.1073T>A (p.Phe358Tyr)
c.395T>A (p.Phe132Tyr)
c.734T>A (p.Phe245Tyr)
1g.146018286A>CCA342133192HJVc.1072T>G (p.Phe358Val)
c.394T>G (p.Phe132Val)
c.733T>G (p.Phe245Val)
1g.146018286A>GCA342133199HJVc.1072T>C (p.Phe358Leu)
c.394T>C (p.Phe132Leu)
c.733T>C (p.Phe245Leu)
1g.146018286A>TCA342133195HJVc.1072T>A (p.Phe358Ile)
c.394T>A (p.Phe132Ile)
c.733T>A (p.Phe245Ile)
1g.146018287G>ACA420250246HJVc.1071C>T (p.Tyr357=)
c.393C>T (p.Tyr131=)
c.732C>T (p.Tyr244=)
dbSNP gnomAD v3 gnomAD v4
1g.146018287G>CCA342133210HJVc.1071C>G (p.Tyr357Ter)
c.393C>G (p.Tyr131Ter)
c.732C>G (p.Tyr244Ter)
1g.146018287G=CA1198820905HJVc.1071C= (p.Tyr357=)
c.393C= (p.Tyr131=)
c.732C= (p.Tyr244=)
1g.146018287G>TCA342133218HJVc.1071C>A (p.Tyr357Ter)
c.393C>A (p.Tyr131Ter)
c.732C>A (p.Tyr244Ter)
1g.146018288T>ACA342133222HJVc.1070A>T (p.Tyr357Phe)
c.392A>T (p.Tyr131Phe)
c.731A>T (p.Tyr244Phe)
1g.146018288T>CCA342133224HJVc.1070A>G (p.Tyr357Cys)
c.392A>G (p.Tyr131Cys)
c.731A>G (p.Tyr244Cys)
1g.146018288T>GCA342133229HJVc.1070A>C (p.Tyr357Ser)
c.392A>C (p.Tyr131Ser)
c.731A>C (p.Tyr244Ser)
1g.146018289A>CCA342133235HJVc.1069T>G (p.Tyr357Asp)
c.391T>G (p.Tyr131Asp)
c.730T>G (p.Tyr244Asp)
1g.146018289A>GCA342133237HJVc.1069T>C (p.Tyr357His)
c.391T>C (p.Tyr131His)
c.730T>C (p.Tyr244His)
gnomAD v4
1g.146018289A>TCA342133240HJVc.1069T>A (p.Tyr357Asn)
c.391T>A (p.Tyr131Asn)
c.730T>A (p.Tyr244Asn)
1g.146018289_146018308dupCA2647575248HJVc.1050_1069dup (p.Tyr357CysfsTer17)
c.372_391dup (p.Tyr131CysfsTer17)
c.711_730dup (p.Tyr244CysfsTer17)
gnomAD v4
1g.146018290A=CA1142275298HJVc.1068T= (p.Ala356=)
c.390T= (p.Ala130=)
c.729T= (p.Ala243=)
1g.146018290A>CCA342133243HJVc.1068T>G (p.Ala356=)
c.390T>G (p.Ala130=)
c.729T>G (p.Ala243=)
dbSNP
1g.146018290A>GCA1053958HJVc.1068T>C (p.Ala356=)
c.390T>C (p.Ala130=)
c.729T>C (p.Ala243=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018290A>TCA342133246HJVc.1068T>A (p.Ala356=)
c.390T>A (p.Ala130=)
c.729T>A (p.Ala243=)
1g.146018291G>ACA342133251HJVc.1067C>T (p.Ala356Val)
c.389C>T (p.Ala130Val)
c.728C>T (p.Ala243Val)
1g.146018291G>CCA342133254HJVc.1067C>G (p.Ala356Gly)
c.389C>G (p.Ala130Gly)
c.728C>G (p.Ala243Gly)
1g.146018291G=CA1198820906HJVc.1067C= (p.Ala356=)
c.389C= (p.Ala130=)
c.728C= (p.Ala243=)
1g.146018291G>TCA342133255HJVc.1067C>A (p.Ala356Asp)
c.389C>A (p.Ala130Asp)
c.728C>A (p.Ala243Asp)
dbSNP gnomAD v2 gnomAD v4
1g.146018292C>ACA342133257HJVc.1066G>T (p.Ala356Ser)
c.388G>T (p.Ala130Ser)
c.727G>T (p.Ala243Ser)
1g.146018292C>GCA342133260HJVc.1066G>C (p.Ala356Pro)
c.388G>C (p.Ala130Pro)
c.727G>C (p.Ala243Pro)
1g.146018292C>TCA342133259HJVc.1066G>A (p.Ala356Thr)
c.388G>A (p.Ala130Thr)
c.727G>A (p.Ala243Thr)
dbSNP
1g.146018293A=CA1198820907HJVc.1065T= (p.Asp355=)
c.387T= (p.Asp129=)
c.726T= (p.Asp242=)
1g.146018293A>CCA342133262HJVc.1065T>G (p.Asp355Glu)
c.387T>G (p.Asp129Glu)
c.726T>G (p.Asp242Glu)
1g.146018293A>GCA420250247HJVc.1065T>C (p.Asp355=)
c.387T>C (p.Asp129=)
c.726T>C (p.Asp242=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.146018293A>TCA342133266HJVc.1065T>A (p.Asp355Glu)
c.387T>A (p.Asp129Glu)
c.726T>A (p.Asp242Glu)
1g.146018294T>ACA342133276HJVc.1064A>T (p.Asp355Val)
c.386A>T (p.Asp129Val)
c.725A>T (p.Asp242Val)
dbSNP
1g.146018294T>CCA342133280HJVc.1064A>G (p.Asp355Gly)
c.386A>G (p.Asp129Gly)
c.725A>G (p.Asp242Gly)
1g.146018294T>GCA342133282HJVc.1064A>C (p.Asp355Ala)
c.386A>C (p.Asp129Ala)
c.725A>C (p.Asp242Ala)
gnomAD v4
1g.146018294T=CA1198820908HJVc.1064A= (p.Asp355=)
c.386A= (p.Asp129=)
c.725A= (p.Asp242=)
1g.146018295C>ACA1053957HJVc.1063G>T (p.Asp355Tyr)
c.385G>T (p.Asp129Tyr)
c.724G>T (p.Asp242Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018295C=CA1198820909HJVc.1063G= (p.Asp355=)
c.385G= (p.Asp129=)
c.724G= (p.Asp242=)
1g.146018295C>GCA29823257HJVc.1063G>C (p.Asp355His)
c.385G>C (p.Asp129His)
c.724G>C (p.Asp242His)
1g.146018295C>TCA29823248HJVc.1063G>A (p.Asp355Asn)
c.385G>A (p.Asp129Asn)
c.724G>A (p.Asp242Asn)
dbSNP gnomAD v2

Number of alleles fetched