Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219421432_219421434delCA2580616706DESn.590_592del
n.504_506del
c.1116_1118del (p.Glu373del)
n.588_590del
n.511_513del
c.1113_1115del (p.Glu372del)
c.736-52_736-50del (n.736-52_736-50del)
c.1047_1049del (p.Glu350del)
c.1095_1097del (p.Glu366del)
c.846_848del (p.Glu283del)
dbSNP
2g.219421432G>ACA2125243DESn.590G>A
n.504G>A
c.1116G>A (p.Glu372=)
n.588G>A
n.511G>A
c.1113G>A (p.Glu371=)
c.736-52G>A (n.736-52G>A)
c.1047G>A (p.Glu349=)
c.1095G>A (p.Glu365=)
c.846G>A (p.Glu282=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219421432G>CCA350694328DESn.590G>C
n.504G>C
c.1116G>C (p.Glu372Asp)
n.588G>C
n.511G>C
c.1113G>C (p.Glu371Asp)
c.736-52G>C (n.736-52G>C)
c.1047G>C (p.Glu349Asp)
c.1095G>C (p.Glu365Asp)
c.846G>C (p.Glu282Asp)
2g.219421432G=CA1329211280DESn.590G=
n.504G=
c.1116G= (p.Glu372=)
n.588G=
n.511G=
c.1113G= (p.Glu371=)
c.736-52G= (n.736-52G=)
c.1047G= (p.Glu349=)
c.1095G= (p.Glu365=)
c.846G= (p.Glu282=)
2g.219421432G>TCA350694331DESn.590G>T
n.504G>T
c.1116G>T (p.Glu372Asp)
n.588G>T
n.511G>T
c.1113G>T (p.Glu371Asp)
c.736-52G>T (n.736-52G>T)
c.1047G>T (p.Glu349Asp)
c.1095G>T (p.Glu365Asp)
c.846G>T (p.Glu282Asp)
2g.219421433G>ACA2125244DESn.591G>A
n.505G>A
c.1117G>A (p.Glu373Lys)
n.589G>A
n.512G>A
c.1114G>A (p.Glu372Lys)
c.736-51G>A (n.736-51G>A)
c.1048G>A (p.Glu350Lys)
c.1096G>A (p.Glu366Lys)
c.847G>A (p.Glu283Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219421433G>CCA350694336DESn.591G>C
n.505G>C
c.1117G>C (p.Glu373Gln)
n.589G>C
n.512G>C
c.1114G>C (p.Glu372Gln)
c.736-51G>C (n.736-51G>C)
c.1048G>C (p.Glu350Gln)
c.1096G>C (p.Glu366Gln)
c.847G>C (p.Glu283Gln)
2g.219421433G=CA1329211281DESn.591G=
n.505G=
c.1117G= (p.Glu373=)
n.589G=
n.512G=
c.1114G= (p.Glu372=)
c.736-51G= (n.736-51G=)
c.1048G= (p.Glu350=)
c.1096G= (p.Glu366=)
c.847G= (p.Glu283=)
2g.219421433G>TCA350694339DESn.591G>T
n.505G>T
c.1117G>T (p.Glu373Ter)
n.589G>T
n.512G>T
c.1114G>T (p.Glu372Ter)
c.736-51G>T (n.736-51G>T)
c.1048G>T (p.Glu350Ter)
c.1096G>T (p.Glu366Ter)
c.847G>T (p.Glu283Ter)
2g.219421434A>CCA350694344DESn.592A>C
n.506A>C
c.1118A>C (p.Glu373Ala)
n.590A>C
n.513A>C
c.1115A>C (p.Glu372Ala)
c.736-50A>C (n.736-50A>C)
c.1049A>C (p.Glu350Ala)
c.1097A>C (p.Glu366Ala)
c.848A>C (p.Glu283Ala)
gnomAD v4
2g.219421434A>GCA350694346DESn.592A>G
n.506A>G
c.1118A>G (p.Glu373Gly)
n.590A>G
n.513A>G
c.1115A>G (p.Glu372Gly)
c.736-50A>G (n.736-50A>G)
c.1049A>G (p.Glu350Gly)
c.1097A>G (p.Glu366Gly)
c.848A>G (p.Glu283Gly)
2g.219421434A>TCA350694349DESn.592A>T
n.506A>T
c.1118A>T (p.Glu373Val)
n.590A>T
n.513A>T
c.1115A>T (p.Glu372Val)
c.736-50A>T (n.736-50A>T)
c.1049A>T (p.Glu350Val)
c.1097A>T (p.Glu366Val)
c.848A>T (p.Glu283Val)
2g.219421435A=CA1329211282DESn.593A=
n.507A=
c.1119A= (p.Glu373=)
n.591A=
n.514A=
c.1116A= (p.Glu372=)
c.736-49A= (n.736-49A=)
c.1050A= (p.Glu350=)
c.1098A= (p.Glu366=)
c.849A= (p.Glu283=)
2g.219421435A>CCA350694351DESn.593A>C
n.507A>C
c.1119A>C (p.Glu373Asp)
n.591A>C
n.514A>C
c.1116A>C (p.Glu372Asp)
c.736-49A>C (n.736-49A>C)
c.1050A>C (p.Glu350Asp)
c.1098A>C (p.Glu366Asp)
c.849A>C (p.Glu283Asp)
ClinVar dbSNP
2g.219421435A>GCA431284371DESn.593A>G
n.507A>G
c.1119A>G (p.Glu373=)
n.591A>G
n.514A>G
c.1116A>G (p.Glu372=)
c.736-49A>G (n.736-49A>G)
c.1050A>G (p.Glu350=)
c.1098A>G (p.Glu366=)
c.849A>G (p.Glu283=)
dbSNP
2g.219421435A>TCA2125245DESn.593A>T
n.507A>T
c.1119A>T (p.Glu373Asp)
n.591A>T
n.514A>T
c.1116A>T (p.Glu372Asp)
c.736-49A>T (n.736-49A>T)
c.1050A>T (p.Glu350Asp)
c.1098A>T (p.Glu366Asp)
c.849A>T (p.Glu283Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
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=)
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)

Number of alleles fetched