Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.153816408C>ACA342527387GATAD2Bc.658G>T (p.Glu220Ter)
c.1081G>T (p.Glu361Ter)
c.1033G>T (p.Glu345Ter)
c.335G>T
1g.153816408C>GCA342527388GATAD2Bc.658G>C (p.Glu220Gln)
c.1081G>C (p.Glu361Gln)
c.1033G>C (p.Glu345Gln)
c.335G>C
1g.153816408C>TCA342527390GATAD2Bc.658G>A (p.Glu220Lys)
c.1081G>A (p.Glu361Lys)
c.1033G>A (p.Glu345Lys)
c.335G>A
1g.153816409C>ACA420946119GATAD2Bc.657G>T (p.Leu219=)
c.1080G>T (p.Leu360=)
c.1032G>T (p.Leu344=)
c.334G>T
1g.153816409C>GCA420946120GATAD2Bc.657G>C (p.Leu219=)
c.1080G>C (p.Leu360=)
c.1032G>C (p.Leu344=)
c.334G>C
1g.153816409C>TCA420946121GATAD2Bc.657G>A (p.Leu219=)
c.1080G>A (p.Leu360=)
c.1032G>A (p.Leu344=)
c.334G>A
gnomAD v4
1g.153816410A>CCA342527392GATAD2Bc.656T>G (p.Leu219Arg)
c.1079T>G (p.Leu360Arg)
c.1031T>G (p.Leu344Arg)
c.333T>G
1g.153816410A>GCA342527393GATAD2Bc.656T>C (p.Leu219Pro)
c.1079T>C (p.Leu360Pro)
c.1031T>C (p.Leu344Pro)
c.333T>C
1g.153816410A>TCA342527394GATAD2Bc.656T>A (p.Leu219Gln)
c.1079T>A (p.Leu360Gln)
c.1031T>A (p.Leu344Gln)
c.333T>A
1g.153816411G>ACA420946122GATAD2Bc.655C>T (p.Leu219=)
c.1078C>T (p.Leu360=)
c.1030C>T (p.Leu344=)
c.332C>T
1g.153816411G>CCA342527397GATAD2Bc.655C>G (p.Leu219Val)
c.1078C>G (p.Leu360Val)
c.1030C>G (p.Leu344Val)
c.332C>G
1g.153816411G>TCA342527398GATAD2Bc.655C>A (p.Leu219Met)
c.1078C>A (p.Leu360Met)
c.1030C>A (p.Leu344Met)
c.332C>A
1g.153816412C>ACA342527400GATAD2Bc.654G>T (p.Gln218His)
c.1077G>T (p.Gln359His)
c.1029G>T (p.Gln343His)
c.331G>T
1g.153816412C=CA2480601972GATAD2Bc.654G= (p.Gln218=)
c.1077G= (p.Gln359=)
c.1029G= (p.Gln343=)
c.331G=
1g.153816412C>GCA342527402GATAD2Bc.654G>C (p.Gln218His)
c.1077G>C (p.Gln359His)
c.1029G>C (p.Gln343His)
c.331G>C
1g.153816412C>TCA1120703GATAD2Bc.654G>A (p.Gln218=)
c.1077G>A (p.Gln359=)
c.1029G>A (p.Gln343=)
c.331G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.153816413T>ACA342527411GATAD2Bc.653A>T (p.Gln218Leu)
c.1076A>T (p.Gln359Leu)
c.1028A>T (p.Gln343Leu)
c.330A>T
1g.153816413T>CCA342527407GATAD2Bc.653A>G (p.Gln218Arg)
c.1076A>G (p.Gln359Arg)
c.1028A>G (p.Gln343Arg)
c.330A>G
1g.153816413T>GCA342527409GATAD2Bc.653A>C (p.Gln218Pro)
c.1076A>C (p.Gln359Pro)
c.1028A>C (p.Gln343Pro)
c.330A>C
1g.153816414G>ACA342527413GATAD2Bc.652C>T (p.Gln218Ter)
c.1075C>T (p.Gln359Ter)
c.1027C>T (p.Gln343Ter)
c.329C>T
ClinVar dbSNP
1g.153816414G>CCA342527415GATAD2Bc.652C>G (p.Gln218Glu)
c.1075C>G (p.Gln359Glu)
c.1027C>G (p.Gln343Glu)
c.329C>G
1g.153816414G=CA2480601973GATAD2Bc.652C= (p.Gln218=)
c.1075C= (p.Gln359=)
c.1027C= (p.Gln343=)
c.329C=
1g.153816414G>TCA342527416GATAD2Bc.652C>A (p.Gln218Lys)
c.1075C>A (p.Gln359Lys)
c.1027C>A (p.Gln343Lys)
c.329C>A
1g.153816415T>ACA342527418GATAD2Bc.651A>T (p.Lys217Asn)
c.1074A>T (p.Lys358Asn)
c.1026A>T (p.Lys342Asn)
c.328A>T
1g.153816415T>CCA420946123GATAD2Bc.651A>G (p.Lys217=)
c.1074A>G (p.Lys358=)
c.1026A>G (p.Lys342=)
c.328A>G
dbSNP gnomAD v2
1g.153816415T>GCA342527420GATAD2Bc.651A>C (p.Lys217Asn)
c.1074A>C (p.Lys358Asn)
c.1026A>C (p.Lys342Asn)
c.328A>C
1g.153816415T=CA2480601974GATAD2Bc.651A= (p.Lys217=)
c.1074A= (p.Lys358=)
c.1026A= (p.Lys342=)
c.328A=
1g.153816416T>ACA342527422GATAD2Bc.650A>T (p.Lys217Ile)
c.1073A>T (p.Lys358Ile)
c.1025A>T (p.Lys342Ile)
c.327A>T
1g.153816416T>CCA342527424GATAD2Bc.650A>G (p.Lys217Arg)
c.1073A>G (p.Lys358Arg)
c.1025A>G (p.Lys342Arg)
c.327A>G
1g.153816416T>GCA342527425GATAD2Bc.650A>C (p.Lys217Thr)
c.1073A>C (p.Lys358Thr)
c.1025A>C (p.Lys342Thr)
c.327A>C
1g.153816417T>ACA342527427GATAD2Bc.649A>T (p.Lys217Ter)
c.1072A>T (p.Lys358Ter)
c.1024A>T (p.Lys342Ter)
c.326A>T
1g.153816417T>CCA342527428GATAD2Bc.649A>G (p.Lys217Glu)
c.1072A>G (p.Lys358Glu)
c.1024A>G (p.Lys342Glu)
c.326A>G
1g.153816417T>GCA342527432GATAD2Bc.649A>C (p.Lys217Gln)
c.1072A>C (p.Lys358Gln)
c.1024A>C (p.Lys342Gln)
c.326A>C
1g.153816418G>ACA420946124GATAD2Bc.648C>T (p.Arg216=)
c.1071C>T (p.Arg357=)
c.1023C>T (p.Arg341=)
c.325C>T
1g.153816418G>CCA420946125GATAD2Bc.648C>G (p.Arg216=)
c.1071C>G (p.Arg357=)
c.1023C>G (p.Arg341=)
c.325C>G
1g.153816418G>TCA420946126GATAD2Bc.648C>A (p.Arg216=)
c.1071C>A (p.Arg357=)
c.1023C>A (p.Arg341=)
c.325C>A
1g.153816419C>ACA342527437GATAD2Bc.647G>T (p.Arg216Leu)
c.1070G>T (p.Arg357Leu)
c.1022G>T (p.Arg341Leu)
c.324G>T
1g.153816419C>GCA342527439GATAD2Bc.647G>C (p.Arg216Pro)
c.1070G>C (p.Arg357Pro)
c.1022G>C (p.Arg341Pro)
c.324G>C
1g.153816419C>TCA342527435GATAD2Bc.647G>A (p.Arg216His)
c.1070G>A (p.Arg357His)
c.1022G>A (p.Arg341His)
c.324G>A
gnomAD v4
1g.153816420G>ACA342527443GATAD2Bc.646C>T (p.Arg216Cys)
c.1069C>T (p.Arg357Cys)
c.1021C>T (p.Arg341Cys)
c.323C>T
gnomAD v4
1g.153816420G>CCA342527445GATAD2Bc.646C>G (p.Arg216Gly)
c.1069C>G (p.Arg357Gly)
c.1021C>G (p.Arg341Gly)
c.323C>G
1g.153816420G>TCA342527447GATAD2Bc.646C>A (p.Arg216Ser)
c.1069C>A (p.Arg357Ser)
c.1021C>A (p.Arg341Ser)
c.323C>A
1g.153816421A>CCA420946127GATAD2Bc.645T>G (p.Leu215=)
c.1068T>G (p.Leu356=)
c.1020T>G (p.Leu340=)
c.322T>G
1g.153816421A>GCA420946128GATAD2Bc.645T>C (p.Leu215=)
c.1068T>C (p.Leu356=)
c.1020T>C (p.Leu340=)
c.322T>C
1g.153816421A>TCA420946129GATAD2Bc.645T>A (p.Leu215=)
c.1068T>A (p.Leu356=)
c.1020T>A (p.Leu340=)
c.322T>A
1g.153816422A>CCA342527449GATAD2Bc.644T>G (p.Leu215Arg)
c.1067T>G (p.Leu356Arg)
c.1019T>G (p.Leu340Arg)
c.321T>G
1g.153816422A>GCA342527451GATAD2Bc.644T>C (p.Leu215Pro)
c.1067T>C (p.Leu356Pro)
c.1019T>C (p.Leu340Pro)
c.321T>C
1g.153816422A>TCA342527452GATAD2Bc.644T>A (p.Leu215His)
c.1067T>A (p.Leu356His)
c.1019T>A (p.Leu340His)
c.321T>A
1g.153816423G>ACA342527455GATAD2Bc.643C>T (p.Leu215Phe)
c.1066C>T (p.Leu356Phe)
c.1018C>T (p.Leu340Phe)
c.320C>T
1g.153816423G>CCA342527457GATAD2Bc.643C>G (p.Leu215Val)
c.1066C>G (p.Leu356Val)
c.1018C>G (p.Leu340Val)
c.320C>G

Number of alleles fetched