Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219421444C>ACA350694419DESn.602C>A
n.516C>A
c.1128C>A (p.His376Gln)
n.600C>A
n.523C>A
c.1125C>A (p.His375Gln)
c.736-40C>A (n.736-40C>A)
c.1059C>A (p.His353Gln)
c.1107C>A (p.His369Gln)
c.858C>A (p.His286Gln)
2g.219421444C=CA1329211288DESn.602C=
n.516C=
c.1128C= (p.His376=)
n.600C=
n.523C=
c.1125C= (p.His375=)
c.736-40C= (n.736-40C=)
c.1059C= (p.His353=)
c.1107C= (p.His369=)
c.858C= (p.His286=)
2g.219421444C>GCA350694420DESn.602C>G
n.516C>G
c.1128C>G (p.His376Gln)
n.600C>G
n.523C>G
c.1125C>G (p.His375Gln)
c.736-40C>G (n.736-40C>G)
c.1059C>G (p.His353Gln)
c.1107C>G (p.His369Gln)
c.858C>G (p.His286Gln)
2g.219421444C>TCA2125246DESn.602C>T
n.516C>T
c.1128C>T (p.His376=)
n.600C>T
n.523C>T
c.1125C>T (p.His375=)
c.736-40C>T (n.736-40C>T)
c.1059C>T (p.His353=)
c.1107C>T (p.His369=)
c.858C>T (p.His286=)
 dbSNP ExAC gnomAD v2
2g.219421445C>ACA350694427DESn.603C>A
n.517C>A
c.1129C>A (p.Leu377Ile)
n.601C>A
n.524C>A
c.1126C>A (p.Leu376Ile)
c.736-39C>A (n.736-39C>A)
c.1060C>A (p.Leu354Ile)
c.1108C>A (p.Leu370Ile)
c.859C>A (p.Leu287Ile)
2g.219421445C>GCA350694431DESn.603C>G
n.517C>G
c.1129C>G (p.Leu377Val)
n.601C>G
n.524C>G
c.1126C>G (p.Leu376Val)
c.736-39C>G (n.736-39C>G)
c.1060C>G (p.Leu354Val)
c.1108C>G (p.Leu370Val)
c.859C>G (p.Leu287Val)
2g.219421445C>TCA350694433DESn.603C>T
n.517C>T
c.1129C>T (p.Leu377Phe)
n.601C>T
n.524C>T
c.1126C>T (p.Leu376Phe)
c.736-39C>T (n.736-39C>T)
c.1060C>T (p.Leu354Phe)
c.1108C>T (p.Leu370Phe)
c.859C>T (p.Leu287Phe)
2g.219421445_219421467delinsCTCAAGGATGAGATGGCCCGCCACA1329211289DESn.603_625delinsCTCAAGGATGAGATGGCCCGCCA
n.517_539delinsCTCAAGGATGAGATGGCCCGCCA
c.1129_1151delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu377=)
n.601_623delinsCTCAAGGATGAGATGGCCCGCCA
n.524_546delinsCTCAAGGATGAGATGGCCCGCCA
c.1126_1148delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu376=)
c.736-39_736-17delinsCTCAAGGATGAGATGGCCCGCCA (n.736-39_736-17delinsCTCAAGGATGAGATGGCCCGCCA)
c.1060_1082delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu354=)
c.1108_1130delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu370=)
c.859_881delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu287=)
2g.219421446T>ACA350694438DESn.604T>A
n.518T>A
c.1130T>A (p.Leu377His)
n.602T>A
n.525T>A
c.1127T>A (p.Leu376His)
c.736-38T>A (n.736-38T>A)
c.1061T>A (p.Leu354His)
c.1109T>A (p.Leu370His)
c.860T>A (p.Leu287His)
2g.219421446T>CCA350694440DESn.604T>C
n.518T>C
c.1130T>C (p.Leu377Pro)
n.602T>C
n.525T>C
c.1127T>C (p.Leu376Pro)
c.736-38T>C (n.736-38T>C)
c.1061T>C (p.Leu354Pro)
c.1109T>C (p.Leu370Pro)
c.860T>C (p.Leu287Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219421446T>GCA350694441DESn.604T>G
n.518T>G
c.1130T>G (p.Leu377Arg)
n.602T>G
n.525T>G
c.1127T>G (p.Leu376Arg)
c.736-38T>G (n.736-38T>G)
c.1061T>G (p.Leu354Arg)
c.1109T>G (p.Leu370Arg)
c.860T>G (p.Leu287Arg)
2g.219421446T=CA1329211290DESn.604T=
n.518T=
c.1130T= (p.Leu377=)
n.602T=
n.525T=
c.1127T= (p.Leu376=)
c.736-38T= (n.736-38T=)
c.1061T= (p.Leu354=)
c.1109T= (p.Leu370=)
c.860T= (p.Leu287=)
2g.219421448_219421469delCA915941735DESn.606_627del
n.520_541del
c.1132_1153del (p.Lys378CysfsTer10)
n.604_625del
n.527_548del
c.1129_1150del (p.Lys377CysfsTer10)
c.736-36_736-15del (n.736-36_736-15del)
c.1063_1084del (p.Lys355CysfsTer10)
c.1111_1132del (p.Lys371CysfsTer10)
c.862_883del (p.Lys288CysfsTer10)
 ClinVar dbSNP gnomAD v4
2g.219421447C>ACA431284398DESn.605C>A
n.519C>A
c.1131C>A (p.Leu377=)
n.603C>A
n.526C>A
c.1128C>A (p.Leu376=)
c.736-37C>A (n.736-37C>A)
c.1062C>A (p.Leu354=)
c.1110C>A (p.Leu370=)
c.861C>A (p.Leu287=)
 dbSNP
2g.219421447C=CA1329211291DESn.605C=
n.519C=
c.1131C= (p.Leu377=)
n.603C=
n.526C=
c.1128C= (p.Leu376=)
c.736-37C= (n.736-37C=)
c.1062C= (p.Leu354=)
c.1110C= (p.Leu370=)
c.861C= (p.Leu287=)
2g.219421447C>GCA431284397DESn.605C>G
n.519C>G
c.1131C>G (p.Leu377=)
n.603C>G
n.526C>G
c.1128C>G (p.Leu376=)
c.736-37C>G (n.736-37C>G)
c.1062C>G (p.Leu354=)
c.1110C>G (p.Leu370=)
c.861C>G (p.Leu287=)
 dbSNP gnomAD v3 gnomAD v4
2g.219421447C>TCA431284396DESn.605C>T
n.519C>T
c.1131C>T (p.Leu377=)
n.603C>T
n.526C>T
c.1128C>T (p.Leu376=)
c.736-37C>T (n.736-37C>T)
c.1062C>T (p.Leu354=)
c.1110C>T (p.Leu370=)
c.861C>T (p.Leu287=)
2g.219421448A>CCA350694450DESn.606A>C
n.520A>C
c.1132A>C (p.Lys378Gln)
n.604A>C
n.527A>C
c.1129A>C (p.Lys377Gln)
c.736-36A>C (n.736-36A>C)
c.1063A>C (p.Lys355Gln)
c.1111A>C (p.Lys371Gln)
c.862A>C (p.Lys288Gln)
2g.219421448A>GCA350694445DESn.606A>G
n.520A>G
c.1132A>G (p.Lys378Glu)
n.604A>G
n.527A>G
c.1129A>G (p.Lys377Glu)
c.736-36A>G (n.736-36A>G)
c.1063A>G (p.Lys355Glu)
c.1111A>G (p.Lys371Glu)
c.862A>G (p.Lys288Glu)
2g.219421448A>TCA350694448DESn.606A>T
n.520A>T
c.1132A>T (p.Lys378Ter)
n.604A>T
n.527A>T
c.1129A>T (p.Lys377Ter)
c.736-36A>T (n.736-36A>T)
c.1063A>T (p.Lys355Ter)
c.1111A>T (p.Lys371Ter)
c.862A>T (p.Lys288Ter)
2g.219421449A=CA1329211292DESn.607A=
n.521A=
c.1133A= (p.Lys378=)
n.605A=
n.528A=
c.1130A= (p.Lys377=)
c.736-35A= (n.736-35A=)
c.1064A= (p.Lys355=)
c.1112A= (p.Lys371=)
c.863A= (p.Lys288=)
2g.219421449A>CCA237070DESn.607A>C
n.521A>C
c.1133A>C (p.Lys378Thr)
n.605A>C
n.528A>C
c.1130A>C (p.Lys377Thr)
c.736-35A>C (n.736-35A>C)
c.1064A>C (p.Lys355Thr)
c.1112A>C (p.Lys371Thr)
c.863A>C (p.Lys288Thr)
 ClinVar dbSNP
2g.219421449A>GCA350694457DESn.607A>G
n.521A>G
c.1133A>G (p.Lys378Arg)
n.605A>G
n.528A>G
c.1130A>G (p.Lys377Arg)
c.736-35A>G (n.736-35A>G)
c.1064A>G (p.Lys355Arg)
c.1112A>G (p.Lys371Arg)
c.863A>G (p.Lys288Arg)
 ClinVar dbSNP gnomAD v4
2g.219421449A>TCA350694463DESn.607A>T
n.521A>T
c.1133A>T (p.Lys378Met)
n.605A>T
n.528A>T
c.1130A>T (p.Lys377Met)
c.736-35A>T (n.736-35A>T)
c.1064A>T (p.Lys355Met)
c.1112A>T (p.Lys371Met)
c.863A>T (p.Lys288Met)
2g.219421450G>ACA431284402DESn.608G>A
n.522G>A
c.1134G>A (p.Lys378=)
n.606G>A
n.529G>A
c.1131G>A (p.Lys377=)
c.736-34G>A (n.736-34G>A)
c.1065G>A (p.Lys355=)
c.1113G>A (p.Lys371=)
c.864G>A (p.Lys288=)
 ClinVar dbSNP
2g.219421450G>CCA350694468DESn.608G>C
n.522G>C
c.1134G>C (p.Lys378Asn)
n.606G>C
n.529G>C
c.1131G>C (p.Lys377Asn)
c.736-34G>C (n.736-34G>C)
c.1065G>C (p.Lys355Asn)
c.1113G>C (p.Lys371Asn)
c.864G>C (p.Lys288Asn)
2g.219421450G=CA1329211293DESn.608G=
n.522G=
c.1134G= (p.Lys378=)
n.606G=
n.529G=
c.1131G= (p.Lys377=)
c.736-34G= (n.736-34G=)
c.1065G= (p.Lys355=)
c.1113G= (p.Lys371=)
c.864G= (p.Lys288=)
2g.219421450G>TCA350694471DESn.608G>T
n.522G>T
c.1134G>T (p.Lys378Asn)
n.606G>T
n.529G>T
c.1131G>T (p.Lys377Asn)
c.736-34G>T (n.736-34G>T)
c.1065G>T (p.Lys355Asn)
c.1113G>T (p.Lys371Asn)
c.864G>T (p.Lys288Asn)
2g.219421451G>ACA350694475DESn.609G>A
n.523G>A
c.1135G>A (p.Asp379Asn)
n.607G>A
n.530G>A
c.1132G>A (p.Asp378Asn)
c.736-33G>A (n.736-33G>A)
c.1066G>A (p.Asp356Asn)
c.1114G>A (p.Asp372Asn)
c.865G>A (p.Asp289Asn)
 COSMIC
2g.219421451G>CCA350694478DESn.609G>C
n.523G>C
c.1135G>C (p.Asp379His)
n.607G>C
n.530G>C
c.1132G>C (p.Asp378His)
c.736-33G>C (n.736-33G>C)
c.1066G>C (p.Asp356His)
c.1114G>C (p.Asp372His)
c.865G>C (p.Asp289His)
 gnomAD v4
2g.219421451G>TCA350694481DESn.609G>T
n.523G>T
c.1135G>T (p.Asp379Tyr)
n.607G>T
n.530G>T
c.1132G>T (p.Asp378Tyr)
c.736-33G>T (n.736-33G>T)
c.1066G>T (p.Asp356Tyr)
c.1114G>T (p.Asp372Tyr)
c.865G>T (p.Asp289Tyr)
2g.219421452A=CA1329211294DESn.610A=
n.524A=
c.1136A= (p.Asp379=)
n.608A=
n.531A=
c.1133A= (p.Asp378=)
c.736-32A= (n.736-32A=)
c.1067A= (p.Asp356=)
c.1115A= (p.Asp372=)
c.866A= (p.Asp289=)
2g.219421452A>CCA350694485DESn.610A>C
n.524A>C
c.1136A>C (p.Asp379Ala)
n.608A>C
n.531A>C
c.1133A>C (p.Asp378Ala)
c.736-32A>C (n.736-32A>C)
c.1067A>C (p.Asp356Ala)
c.1115A>C (p.Asp372Ala)
c.866A>C (p.Asp289Ala)
2g.219421452A>GCA350694486DESn.610A>G
n.524A>G
c.1136A>G (p.Asp379Gly)
n.608A>G
n.531A>G
c.1133A>G (p.Asp378Gly)
c.736-32A>G (n.736-32A>G)
c.1067A>G (p.Asp356Gly)
c.1115A>G (p.Asp372Gly)
c.866A>G (p.Asp289Gly)
 COSMIC
2g.219421452A>TCA350694487DESn.610A>T
n.524A>T
c.1136A>T (p.Asp379Val)
n.608A>T
n.531A>T
c.1133A>T (p.Asp378Val)
c.736-32A>T (n.736-32A>T)
c.1067A>T (p.Asp356Val)
c.1115A>T (p.Asp372Val)
c.866A>T (p.Asp289Val)
 dbSNP gnomAD v4
2g.219421453T>ACA350694489DESn.611T>A
n.525T>A
c.1137T>A (p.Asp379Glu)
n.609T>A
n.532T>A
c.1134T>A (p.Asp378Glu)
c.736-31T>A (n.736-31T>A)
c.1068T>A (p.Asp356Glu)
c.1116T>A (p.Asp372Glu)
c.867T>A (p.Asp289Glu)
2g.219421453T>CCA431284406DESn.611T>C
n.525T>C
c.1137T>C (p.Asp379=)
n.609T>C
n.532T>C
c.1134T>C (p.Asp378=)
c.736-31T>C (n.736-31T>C)
c.1068T>C (p.Asp356=)
c.1116T>C (p.Asp372=)
c.867T>C (p.Asp289=)
2g.219421453T>GCA350694488DESn.611T>G
n.525T>G
c.1137T>G (p.Asp379Glu)
n.609T>G
n.532T>G
c.1134T>G (p.Asp378Glu)
c.736-31T>G (n.736-31T>G)
c.1068T>G (p.Asp356Glu)
c.1116T>G (p.Asp372Glu)
c.867T>G (p.Asp289Glu)
2g.219421454G>ACA350694491DESn.612G>A
n.526G>A
c.1138G>A (p.Glu380Lys)
n.610G>A
n.533G>A
c.1135G>A (p.Glu379Lys)
c.736-30G>A (n.736-30G>A)
c.1069G>A (p.Glu357Lys)
c.1117G>A (p.Glu373Lys)
c.868G>A (p.Glu290Lys)
2g.219421454G>CCA350694495DESn.612G>C
n.526G>C
c.1138G>C (p.Glu380Gln)
n.610G>C
n.533G>C
c.1135G>C (p.Glu379Gln)
c.736-30G>C (n.736-30G>C)
c.1069G>C (p.Glu357Gln)
c.1117G>C (p.Glu373Gln)
c.868G>C (p.Glu290Gln)
2g.219421454G>TCA350694492DESn.612G>T
n.526G>T
c.1138G>T (p.Glu380Ter)
n.610G>T
n.533G>T
c.1135G>T (p.Glu379Ter)
c.736-30G>T (n.736-30G>T)
c.1069G>T (p.Glu357Ter)
c.1117G>T (p.Glu373Ter)
c.868G>T (p.Glu290Ter)
2g.219421455A>CCA350694501DESn.613A>C
n.527A>C
c.1139A>C (p.Glu380Ala)
n.611A>C
n.534A>C
c.1136A>C (p.Glu379Ala)
c.736-29A>C (n.736-29A>C)
c.1070A>C (p.Glu357Ala)
c.1118A>C (p.Glu373Ala)
c.869A>C (p.Glu290Ala)
2g.219421455A>GCA350694504DESn.613A>G
n.527A>G
c.1139A>G (p.Glu380Gly)
n.611A>G
n.534A>G
c.1136A>G (p.Glu379Gly)
c.736-29A>G (n.736-29A>G)
c.1070A>G (p.Glu357Gly)
c.1118A>G (p.Glu373Gly)
c.869A>G (p.Glu290Gly)
2g.219421455A>TCA350694507DESn.613A>T
n.527A>T
c.1139A>T (p.Glu380Val)
n.611A>T
n.534A>T
c.1136A>T (p.Glu379Val)
c.736-29A>T (n.736-29A>T)
c.1070A>T (p.Glu357Val)
c.1118A>T (p.Glu373Val)
c.869A>T (p.Glu290Val)
2g.219421456G>ACA431284409DESn.614G>A
n.528G>A
c.1140G>A (p.Glu380=)
n.612G>A
n.535G>A
c.1137G>A (p.Glu379=)
c.736-28G>A (n.736-28G>A)
c.1071G>A (p.Glu357=)
c.1119G>A (p.Glu373=)
c.870G>A (p.Glu290=)
 dbSNP
2g.219421456G>CCA350694510DESn.614G>C
n.528G>C
c.1140G>C (p.Glu380Asp)
n.612G>C
n.535G>C
c.1137G>C (p.Glu379Asp)
c.736-28G>C (n.736-28G>C)
c.1071G>C (p.Glu357Asp)
c.1119G>C (p.Glu373Asp)
c.870G>C (p.Glu290Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.219421456G=CA1329211295DESn.614G=
n.528G=
c.1140G= (p.Glu380=)
n.612G=
n.535G=
c.1137G= (p.Glu379=)
c.736-28G= (n.736-28G=)
c.1071G= (p.Glu357=)
c.1119G= (p.Glu373=)
c.870G= (p.Glu290=)
2g.219421456G>TCA350694514DESn.614G>T
n.528G>T
c.1140G>T (p.Glu380Asp)
n.612G>T
n.535G>T
c.1137G>T (p.Glu379Asp)
c.736-28G>T (n.736-28G>T)
c.1071G>T (p.Glu357Asp)
c.1119G>T (p.Glu373Asp)
c.870G>T (p.Glu290Asp)
2g.219421457A>CCA350694517DESn.615A>C
n.529A>C
c.1141A>C (p.Met381Leu)
n.613A>C
n.536A>C
c.1138A>C (p.Met380Leu)
c.736-27A>C (n.736-27A>C)
c.1072A>C (p.Met358Leu)
c.1120A>C (p.Met374Leu)
c.871A>C (p.Met291Leu)
2g.219421457A>GCA350694520DESn.615A>G
n.529A>G
c.1141A>G (p.Met381Val)
n.613A>G
n.536A>G
c.1138A>G (p.Met380Val)
c.736-27A>G (n.736-27A>G)
c.1072A>G (p.Met358Val)
c.1120A>G (p.Met374Val)
c.871A>G (p.Met291Val)
 gnomAD v4

Number of alleles fetched