Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219421436A>CCA350694359DESn.594A>C
n.508A>C
c.1120A>C (p.Ile374Leu)
n.592A>C
n.515A>C
c.1117A>C (p.Ile373Leu)
c.736-48A>C (n.736-48A>C)
c.1051A>C (p.Ile351Leu)
c.1099A>C (p.Ile367Leu)
c.850A>C (p.Ile284Leu)
2g.219421436A>GCA350694361DESn.594A>G
n.508A>G
c.1120A>G (p.Ile374Val)
n.592A>G
n.515A>G
c.1117A>G (p.Ile373Val)
c.736-48A>G (n.736-48A>G)
c.1051A>G (p.Ile351Val)
c.1099A>G (p.Ile367Val)
c.850A>G (p.Ile284Val)
2g.219421436A>TCA350694364DESn.594A>T
n.508A>T
c.1120A>T (p.Ile374Phe)
n.592A>T
n.515A>T
c.1117A>T (p.Ile373Phe)
c.736-48A>T (n.736-48A>T)
c.1051A>T (p.Ile351Phe)
c.1099A>T (p.Ile367Phe)
c.850A>T (p.Ile284Phe)
2g.219421437T>ACA350694367DESn.595T>A
n.509T>A
c.1121T>A (p.Ile374Asn)
n.593T>A
n.516T>A
c.1118T>A (p.Ile373Asn)
c.736-47T>A (n.736-47T>A)
c.1052T>A (p.Ile351Asn)
c.1100T>A (p.Ile367Asn)
c.851T>A (p.Ile284Asn)
2g.219421437T>CCA350694370DESn.595T>C
n.509T>C
c.1121T>C (p.Ile374Thr)
n.593T>C
n.516T>C
c.1118T>C (p.Ile373Thr)
c.736-47T>C (n.736-47T>C)
c.1052T>C (p.Ile351Thr)
c.1100T>C (p.Ile367Thr)
c.851T>C (p.Ile284Thr)
 COSMIC
2g.219421437T>GCA350694372DESn.595T>G
n.509T>G
c.1121T>G (p.Ile374Ser)
n.593T>G
n.516T>G
c.1118T>G (p.Ile373Ser)
c.736-47T>G (n.736-47T>G)
c.1052T>G (p.Ile351Ser)
c.1100T>G (p.Ile367Ser)
c.851T>G (p.Ile284Ser)
2g.219421438C>ACA431284376DESn.596C>A
n.510C>A
c.1122C>A (p.Ile374=)
n.594C>A
n.517C>A
c.1119C>A (p.Ile373=)
c.736-46C>A (n.736-46C>A)
c.1053C>A (p.Ile351=)
c.1101C>A (p.Ile367=)
c.852C>A (p.Ile284=)
 ClinVar dbSNP
2g.219421438C=CA1329211283DESn.596C=
n.510C=
c.1122C= (p.Ile374=)
n.594C=
n.517C=
c.1119C= (p.Ile373=)
c.736-46C= (n.736-46C=)
c.1053C= (p.Ile351=)
c.1101C= (p.Ile367=)
c.852C= (p.Ile284=)
2g.219421438C>GCA350694376DESn.596C>G
n.510C>G
c.1122C>G (p.Ile374Met)
n.594C>G
n.517C>G
c.1119C>G (p.Ile373Met)
c.736-46C>G (n.736-46C>G)
c.1053C>G (p.Ile351Met)
c.1101C>G (p.Ile367Met)
c.852C>G (p.Ile284Met)
 dbSNP
2g.219421438C>TCA431284380DESn.596C>T
n.510C>T
c.1122C>T (p.Ile374=)
n.594C>T
n.517C>T
c.1119C>T (p.Ile373=)
c.736-46C>T (n.736-46C>T)
c.1053C>T (p.Ile351=)
c.1101C>T (p.Ile367=)
c.852C>T (p.Ile284=)
2g.219421439C>ACA431284383DESn.597C>A
n.511C>A
c.1123C>A (p.Arg375=)
n.595C>A
n.518C>A
c.1120C>A (p.Arg374=)
c.736-45C>A (n.736-45C>A)
c.1054C>A (p.Arg352=)
c.1102C>A (p.Arg368=)
c.853C>A (p.Arg285=)
2g.219421439C=CA1329211284DESn.597C=
n.511C=
c.1123C= (p.Arg375=)
n.595C=
n.518C=
c.1120C= (p.Arg374=)
c.736-45C= (n.736-45C=)
c.1054C= (p.Arg352=)
c.1102C= (p.Arg368=)
c.853C= (p.Arg285=)
2g.219421439C>GCA350694381DESn.597C>G
n.511C>G
c.1123C>G (p.Arg375Gly)
n.595C>G
n.518C>G
c.1120C>G (p.Arg374Gly)
c.736-45C>G (n.736-45C>G)
c.1054C>G (p.Arg352Gly)
c.1102C>G (p.Arg368Gly)
c.853C>G (p.Arg285Gly)
2g.219421439C>TCA308275DESn.597C>T
n.511C>T
c.1123C>T (p.Arg375Trp)
n.595C>T
n.518C>T
c.1120C>T (p.Arg374Trp)
c.736-45C>T (n.736-45C>T)
c.1054C>T (p.Arg352Trp)
c.1102C>T (p.Arg368Trp)
c.853C>T (p.Arg285Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219421440G>ACA65983588DESn.598G>A
n.512G>A
c.1124G>A (p.Arg375Gln)
n.596G>A
n.519G>A
c.1121G>A (p.Arg374Gln)
c.736-44G>A (n.736-44G>A)
c.1055G>A (p.Arg352Gln)
c.1103G>A (p.Arg368Gln)
c.854G>A (p.Arg285Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219421440G>CCA350694390DESn.598G>C
n.512G>C
c.1124G>C (p.Arg375Pro)
n.596G>C
n.519G>C
c.1121G>C (p.Arg374Pro)
c.736-44G>C (n.736-44G>C)
c.1055G>C (p.Arg352Pro)
c.1103G>C (p.Arg368Pro)
c.854G>C (p.Arg285Pro)
2g.219421440G=CA1329211285DESn.598G=
n.512G=
c.1124G= (p.Arg375=)
n.596G=
n.519G=
c.1121G= (p.Arg374=)
c.736-44G= (n.736-44G=)
c.1055G= (p.Arg352=)
c.1103G= (p.Arg368=)
c.854G= (p.Arg285=)
2g.219421440G>TCA350694393DESn.598G>T
n.512G>T
c.1124G>T (p.Arg375Leu)
n.596G>T
n.519G>T
c.1121G>T (p.Arg374Leu)
c.736-44G>T (n.736-44G>T)
c.1055G>T (p.Arg352Leu)
c.1103G>T (p.Arg368Leu)
c.854G>T (p.Arg285Leu)
2g.219421441G>ACA431284385DESn.599G>A
n.513G>A
c.1125G>A (p.Arg375=)
n.597G>A
n.520G>A
c.1122G>A (p.Arg374=)
c.736-43G>A (n.736-43G>A)
c.1056G>A (p.Arg352=)
c.1104G>A (p.Arg368=)
c.855G>A (p.Arg285=)
 dbSNP COSMIC
2g.219421441G>CCA431284386DESn.599G>C
n.513G>C
c.1125G>C (p.Arg375=)
n.597G>C
n.520G>C
c.1122G>C (p.Arg374=)
c.736-43G>C (n.736-43G>C)
c.1056G>C (p.Arg352=)
c.1104G>C (p.Arg368=)
c.855G>C (p.Arg285=)
 ClinVar
2g.219421441G=CA1329211286DESn.599G=
n.513G=
c.1125G= (p.Arg375=)
n.597G=
n.520G=
c.1122G= (p.Arg374=)
c.736-43G= (n.736-43G=)
c.1056G= (p.Arg352=)
c.1104G= (p.Arg368=)
c.855G= (p.Arg285=)
2g.219421441G>TCA431284388DESn.599G>T
n.513G>T
c.1125G>T (p.Arg375=)
n.597G>T
n.520G>T
c.1122G>T (p.Arg374=)
c.736-43G>T (n.736-43G>T)
c.1056G>T (p.Arg352=)
c.1104G>T (p.Arg368=)
c.855G>T (p.Arg285=)
2g.219421442C>ACA350694396DESn.600C>A
n.514C>A
c.1126C>A (p.His376Asn)
n.598C>A
n.521C>A
c.1123C>A (p.His375Asn)
c.736-42C>A (n.736-42C>A)
c.1057C>A (p.His353Asn)
c.1105C>A (p.His369Asn)
c.856C>A (p.His286Asn)
2g.219421442C=CA1329211287DESn.600C=
n.514C=
c.1126C= (p.His376=)
n.598C=
n.521C=
c.1123C= (p.His375=)
c.736-42C= (n.736-42C=)
c.1057C= (p.His353=)
c.1105C= (p.His369=)
c.856C= (p.His286=)
2g.219421442C>GCA350694403DESn.600C>G
n.514C>G
c.1126C>G (p.His376Asp)
n.598C>G
n.521C>G
c.1123C>G (p.His375Asp)
c.736-42C>G (n.736-42C>G)
c.1057C>G (p.His353Asp)
c.1105C>G (p.His369Asp)
c.856C>G (p.His286Asp)
 ClinVar
2g.219421442C>TCA217020DESn.600C>T
n.514C>T
c.1126C>T (p.His376Tyr)
n.598C>T
n.521C>T
c.1123C>T (p.His375Tyr)
c.736-42C>T (n.736-42C>T)
c.1057C>T (p.His353Tyr)
c.1105C>T (p.His369Tyr)
c.856C>T (p.His286Tyr)
 ClinVar dbSNP
2g.219421443A>CCA350694407DESn.601A>C
n.515A>C
c.1127A>C (p.His376Pro)
n.599A>C
n.522A>C
c.1124A>C (p.His375Pro)
c.736-41A>C (n.736-41A>C)
c.1058A>C (p.His353Pro)
c.1106A>C (p.His369Pro)
c.857A>C (p.His286Pro)
2g.219421443A>GCA350694410DESn.601A>G
n.515A>G
c.1127A>G (p.His376Arg)
n.599A>G
n.522A>G
c.1124A>G (p.His375Arg)
c.736-41A>G (n.736-41A>G)
c.1058A>G (p.His353Arg)
c.1106A>G (p.His369Arg)
c.857A>G (p.His286Arg)
2g.219421443A>TCA350694413DESn.601A>T
n.515A>T
c.1127A>T (p.His376Leu)
n.599A>T
n.522A>T
c.1124A>T (p.His375Leu)
c.736-41A>T (n.736-41A>T)
c.1058A>T (p.His353Leu)
c.1106A>T (p.His369Leu)
c.857A>T (p.His286Leu)
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=)

Number of alleles fetched