Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219421445_219421467delinsCTCAAGGATGAGATGGCCCGCCA | CA1329211289 | DES | n.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=) | |
2 | g.219421448_219421469del | CA915941735 | DES | n.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 |
2 | g.219421451G>A | CA350694475 | DES | n.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 |
2 | g.219421451G>C | CA350694478 | DES | n.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 |
2 | g.219421451G>T | CA350694481 | DES | n.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) | |
2 | g.219421452A= | CA1329211294 | DES | n.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=) | |
2 | g.219421452A>C | CA350694485 | DES | n.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) | |
2 | g.219421452A>G | CA350694486 | DES | n.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 |
2 | g.219421452A>T | CA350694487 | DES | n.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 |
2 | g.219421453T>A | CA350694489 | DES | n.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) | |
2 | g.219421453T>C | CA431284406 | DES | n.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=) | |
2 | g.219421453T>G | CA350694488 | DES | n.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) | |
2 | g.219421454G>A | CA350694491 | DES | n.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) | |
2 | g.219421454G>C | CA350694495 | DES | n.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) | |
2 | g.219421454G>T | CA350694492 | DES | n.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) | |
2 | g.219421455A>C | CA350694501 | DES | n.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) | |
2 | g.219421455A>G | CA350694504 | DES | n.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) | |
2 | g.219421455A>T | CA350694507 | DES | n.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) | |
2 | g.219421456G>A | CA431284409 | DES | n.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 |
2 | g.219421456G>C | CA350694510 | DES | n.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 |
2 | g.219421456G= | CA1329211295 | DES | n.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=) | |
2 | g.219421456G>T | CA350694514 | DES | n.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) | |
2 | g.219421457A>C | CA350694517 | DES | n.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) | |
2 | g.219421457A>G | CA350694520 | DES | n.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 |
2 | g.219421457A>T | CA350694524 | DES | n.615A>T n.529A>T c.1141A>T (p.Met381Leu) n.613A>T n.536A>T c.1138A>T (p.Met380Leu) c.736-27A>T (n.736-27A>T) c.1072A>T (p.Met358Leu) c.1120A>T (p.Met374Leu) c.871A>T (p.Met291Leu) | |
2 | g.219421458T>A | CA350694529 | DES | n.616T>A n.530T>A c.1142T>A (p.Met381Lys) n.614T>A n.537T>A c.1139T>A (p.Met380Lys) c.736-26T>A (n.736-26T>A) c.1073T>A (p.Met358Lys) c.1121T>A (p.Met374Lys) c.872T>A (p.Met291Lys) | dbSNP gnomAD v2 |
2 | g.219421458T>C | CA2125247 | DES | n.616T>C n.530T>C c.1142T>C (p.Met381Thr) n.614T>C n.537T>C c.1139T>C (p.Met380Thr) c.736-26T>C (n.736-26T>C) c.1073T>C (p.Met358Thr) c.1121T>C (p.Met374Thr) c.872T>C (p.Met291Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219421458T>G | CA350694534 | DES | n.616T>G n.530T>G c.1142T>G (p.Met381Arg) n.614T>G n.537T>G c.1139T>G (p.Met380Arg) c.736-26T>G (n.736-26T>G) c.1073T>G (p.Met358Arg) c.1121T>G (p.Met374Arg) c.872T>G (p.Met291Arg) | |
2 | g.219421458T= | CA1329211296 | DES | n.616T= n.530T= c.1142T= (p.Met381=) n.614T= n.537T= c.1139T= (p.Met380=) c.736-26T= (n.736-26T=) c.1073T= (p.Met358=) c.1121T= (p.Met374=) c.872T= (p.Met291=) | |
2 | g.219421459G>A | CA350694542 | DES | n.617G>A n.531G>A c.1143G>A (p.Met381Ile) n.615G>A n.538G>A c.1140G>A (p.Met380Ile) c.736-25G>A (n.736-25G>A) c.1074G>A (p.Met358Ile) c.1122G>A (p.Met374Ile) c.873G>A (p.Met291Ile) | |
2 | g.219421459G>C | CA350694540 | DES | n.617G>C n.531G>C c.1143G>C (p.Met381Ile) n.615G>C n.538G>C c.1140G>C (p.Met380Ile) c.736-25G>C (n.736-25G>C) c.1074G>C (p.Met358Ile) c.1122G>C (p.Met374Ile) c.873G>C (p.Met291Ile) | |
2 | g.219421459G>T | CA350694537 | DES | n.617G>T n.531G>T c.1143G>T (p.Met381Ile) n.615G>T n.538G>T c.1140G>T (p.Met380Ile) c.736-25G>T (n.736-25G>T) c.1074G>T (p.Met358Ile) c.1122G>T (p.Met374Ile) c.873G>T (p.Met291Ile) | |
2 | g.219421460G>A | CA350694546 | DES | n.618G>A n.532G>A c.1144G>A (p.Ala382Thr) n.616G>A n.539G>A c.1141G>A (p.Ala381Thr) c.736-24G>A (n.736-24G>A) c.1075G>A (p.Ala359Thr) c.1123G>A (p.Ala375Thr) c.874G>A (p.Ala292Thr) | ClinVar dbSNP |
2 | g.219421460G>C | CA350694549 | DES | n.618G>C n.532G>C c.1144G>C (p.Ala382Pro) n.616G>C n.539G>C c.1141G>C (p.Ala381Pro) c.736-24G>C (n.736-24G>C) c.1075G>C (p.Ala359Pro) c.1123G>C (p.Ala375Pro) c.874G>C (p.Ala292Pro) | |
2 | g.219421460G= | CA1329211297 | DES | n.618G= n.532G= c.1144G= (p.Ala382=) n.616G= n.539G= c.1141G= (p.Ala381=) c.736-24G= (n.736-24G=) c.1075G= (p.Ala359=) c.1123G= (p.Ala375=) c.874G= (p.Ala292=) | |
2 | g.219421460G>T | CA350694550 | DES | n.618G>T n.532G>T c.1144G>T (p.Ala382Ser) n.616G>T n.539G>T c.1141G>T (p.Ala381Ser) c.736-24G>T (n.736-24G>T) c.1075G>T (p.Ala359Ser) c.1123G>T (p.Ala375Ser) c.874G>T (p.Ala292Ser) | |
2 | g.219421460_219421461delinsGC | CA1329211298 | DES | n.618_619delinsGC n.532_533delinsGC c.1144_1145delinsGC (p.Ala382=) n.616_617delinsGC n.539_540delinsGC c.1141_1142delinsGC (p.Ala381=) c.736-24_736-23delinsGC (n.736-24_736-23delinsGC) c.1075_1076delinsGC (p.Ala359=) c.1123_1124delinsGC (p.Ala375=) c.874_875delinsGC (p.Ala292=) | |
2 | g.219421460_219421469del | CA645528538 | DES | n.618_627del n.532_541del c.1144_1153del (p.Ala382CysfsTer10) n.616_625del n.539_548del c.1141_1150del (p.Ala381CysfsTer10) c.736-24_736-15del (n.736-24_736-15del) c.1075_1084del (p.Ala359CysfsTer10) c.1123_1132del (p.Ala375CysfsTer10) c.874_883del (p.Ala292CysfsTer10) | COSMIC |
2 | g.219421461C>A | CA350694554 | DES | n.619C>A n.533C>A c.1145C>A (p.Ala382Asp) n.617C>A n.540C>A c.1142C>A (p.Ala381Asp) c.736-23C>A (n.736-23C>A) c.1076C>A (p.Ala359Asp) c.1124C>A (p.Ala375Asp) c.875C>A (p.Ala292Asp) | |
2 | g.219421461C= | CA1329211300 | DES | n.619C= n.533C= c.1145C= (p.Ala382=) n.617C= n.540C= c.1142C= (p.Ala381=) c.736-23C= (n.736-23C=) c.1076C= (p.Ala359=) c.1124C= (p.Ala375=) c.875C= (p.Ala292=) | |
2 | g.219421461C>G | CA350694563 | DES | n.619C>G n.533C>G c.1145C>G (p.Ala382Gly) n.617C>G n.540C>G c.1142C>G (p.Ala381Gly) c.736-23C>G (n.736-23C>G) c.1076C>G (p.Ala359Gly) c.1124C>G (p.Ala375Gly) c.875C>G (p.Ala292Gly) | |
2 | g.219421461C>T | CA350694567 | DES | n.619C>T n.533C>T c.1145C>T (p.Ala382Val) n.617C>T n.540C>T c.1142C>T (p.Ala381Val) c.736-23C>T (n.736-23C>T) c.1076C>T (p.Ala359Val) c.1124C>T (p.Ala375Val) c.875C>T (p.Ala292Val) | dbSNP gnomAD v2 |
2 | g.219421463del | CA1329211299 | DES | n.621del n.535del c.1147del (p.Arg383AlafsTer12) n.619del n.542del c.1144del (p.Arg382AlafsTer12) c.736-21del (n.736-21del) c.1078del (p.Arg360AlafsTer12) c.1126del (p.Arg376AlafsTer12) c.877del (p.Arg293AlafsTer12) | dbSNP |
2 | g.219421462C>A | CA431284418 | DES | n.620C>A n.534C>A c.1146C>A (p.Ala382=) n.618C>A n.541C>A c.1143C>A (p.Ala381=) c.736-22C>A (n.736-22C>A) c.1077C>A (p.Ala359=) c.1125C>A (p.Ala375=) c.876C>A (p.Ala292=) | |
2 | g.219421462C>G | CA431284420 | DES | n.620C>G n.534C>G c.1146C>G (p.Ala382=) n.618C>G n.541C>G c.1143C>G (p.Ala381=) c.736-22C>G (n.736-22C>G) c.1077C>G (p.Ala359=) c.1125C>G (p.Ala375=) c.876C>G (p.Ala292=) | |
2 | g.219421462C>T | CA431284422 | DES | n.620C>T n.534C>T c.1146C>T (p.Ala382=) n.618C>T n.541C>T c.1143C>T (p.Ala381=) c.736-22C>T (n.736-22C>T) c.1077C>T (p.Ala359=) c.1125C>T (p.Ala375=) c.876C>T (p.Ala292=) | ClinVar |
2 | g.219421463C>A | CA350694572 | DES | n.621C>A n.535C>A c.1147C>A (p.Arg383Ser) n.619C>A n.542C>A c.1144C>A (p.Arg382Ser) c.736-21C>A (n.736-21C>A) c.1078C>A (p.Arg360Ser) c.1126C>A (p.Arg376Ser) c.877C>A (p.Arg293Ser) | ClinVar dbSNP |
2 | g.219421463C= | CA1329211301 | DES | n.621C= n.535C= c.1147C= (p.Arg383=) n.619C= n.542C= c.1144C= (p.Arg382=) c.736-21C= (n.736-21C=) c.1078C= (p.Arg360=) c.1126C= (p.Arg376=) c.877C= (p.Arg293=) | |
2 | g.219421463C>G | CA350694573 | DES | n.621C>G n.535C>G c.1147C>G (p.Arg383Gly) n.619C>G n.542C>G c.1144C>G (p.Arg382Gly) c.736-21C>G (n.736-21C>G) c.1078C>G (p.Arg360Gly) c.1126C>G (p.Arg376Gly) c.877C>G (p.Arg293Gly) | |
2 | g.219421463C>T | CA2125248 | DES | n.621C>T n.535C>T c.1147C>T (p.Arg383Cys) n.619C>T n.542C>T c.1144C>T (p.Arg382Cys) c.736-21C>T (n.736-21C>T) c.1078C>T (p.Arg360Cys) c.1126C>T (p.Arg376Cys) c.877C>T (p.Arg293Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219421464G>A | CA350694581 | DES | n.622G>A n.536G>A c.1148G>A (p.Arg383His) n.620G>A n.543G>A c.1145G>A (p.Arg382His) c.736-20G>A (n.736-20G>A) c.1079G>A (p.Arg360His) c.1127G>A (p.Arg376His) c.878G>A (p.Arg293His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219421464G>C | CA350694585 | DES | n.622G>C n.536G>C c.1148G>C (p.Arg383Pro) n.620G>C n.543G>C c.1145G>C (p.Arg382Pro) c.736-20G>C (n.736-20G>C) c.1079G>C (p.Arg360Pro) c.1127G>C (p.Arg376Pro) c.878G>C (p.Arg293Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219421464G= | CA1329211302 | DES | n.622G= n.536G= c.1148G= (p.Arg383=) n.620G= n.543G= c.1145G= (p.Arg382=) c.736-20G= (n.736-20G=) c.1079G= (p.Arg360=) c.1127G= (p.Arg376=) c.878G= (p.Arg293=) | |
2 | g.219421464G>T | CA350694588 | DES | n.622G>T n.536G>T c.1148G>T (p.Arg383Leu) n.620G>T n.543G>T c.1145G>T (p.Arg382Leu) c.736-20G>T (n.736-20G>T) c.1079G>T (p.Arg360Leu) c.1127G>T (p.Arg376Leu) c.878G>T (p.Arg293Leu) | dbSNP gnomAD v4 COSMIC |
2 | g.219421465C>A | CA431284425 | DES | n.623C>A n.537C>A c.1149C>A (p.Arg383=) n.621C>A n.544C>A c.1146C>A (p.Arg382=) c.736-19C>A (n.736-19C>A) c.1080C>A (p.Arg360=) c.1128C>A (p.Arg376=) c.879C>A (p.Arg293=) | |
2 | g.219421465C= | CA1329211303 | DES | n.623C= n.537C= c.1149C= (p.Arg383=) n.621C= n.544C= c.1146C= (p.Arg382=) c.736-19C= (n.736-19C=) c.1080C= (p.Arg360=) c.1128C= (p.Arg376=) c.879C= (p.Arg293=) | |
2 | g.219421465C>G | CA431284429 | DES | n.623C>G n.537C>G c.1149C>G (p.Arg383=) n.621C>G n.544C>G c.1146C>G (p.Arg382=) c.736-19C>G (n.736-19C>G) c.1080C>G (p.Arg360=) c.1128C>G (p.Arg376=) c.879C>G (p.Arg293=) | |
2 | g.219421465C>T | CA431284428 | DES | n.623C>T n.537C>T c.1149C>T (p.Arg383=) n.621C>T n.544C>T c.1146C>T (p.Arg382=) c.736-19C>T (n.736-19C>T) c.1080C>T (p.Arg360=) c.1128C>T (p.Arg376=) c.879C>T (p.Arg293=) | dbSNP |
2 | g.219421466C>A | CA350694599 | DES | n.624C>A n.538C>A c.1150C>A (p.His384Asn) n.622C>A n.545C>A c.1147C>A (p.His383Asn) c.736-18C>A (n.736-18C>A) c.1081C>A (p.His361Asn) c.1129C>A (p.His377Asn) c.880C>A (p.His294Asn) | |
2 | g.219421466C>G | CA350694597 | DES | n.624C>G n.538C>G c.1150C>G (p.His384Asp) n.622C>G n.545C>G c.1147C>G (p.His383Asp) c.736-18C>G (n.736-18C>G) c.1081C>G (p.His361Asp) c.1129C>G (p.His377Asp) c.880C>G (p.His294Asp) | |
2 | g.219421466C>T | CA350694592 | DES | n.624C>T n.538C>T c.1150C>T (p.His384Tyr) n.622C>T n.545C>T c.1147C>T (p.His383Tyr) c.736-18C>T (n.736-18C>T) c.1081C>T (p.His361Tyr) c.1129C>T (p.His377Tyr) c.880C>T (p.His294Tyr) | |
2 | g.219421467A= | CA1329211304 | DES | n.625A= n.539A= c.1151A= (p.His384=) n.623A= n.546A= c.1148A= (p.His383=) c.736-17A= (n.736-17A=) c.1082A= (p.His361=) c.1130A= (p.His377=) c.881A= (p.His294=) | |
2 | g.219421467A>C | CA350694604 | DES | n.625A>C n.539A>C c.1151A>C (p.His384Pro) n.623A>C n.546A>C c.1148A>C (p.His383Pro) c.736-17A>C (n.736-17A>C) c.1082A>C (p.His361Pro) c.1130A>C (p.His377Pro) c.881A>C (p.His294Pro) | ClinVar |
2 | g.219421467A>G | CA350694607 | DES | n.625A>G n.539A>G c.1151A>G (p.His384Arg) n.623A>G n.546A>G c.1148A>G (p.His383Arg) c.736-17A>G (n.736-17A>G) c.1082A>G (p.His361Arg) c.1130A>G (p.His377Arg) c.881A>G (p.His294Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.219421467A>T | CA350694610 | DES | n.625A>T n.539A>T c.1151A>T (p.His384Leu) n.623A>T n.546A>T c.1148A>T (p.His383Leu) c.736-17A>T (n.736-17A>T) c.1082A>T (p.His361Leu) c.1130A>T (p.His377Leu) c.881A>T (p.His294Leu) | |
2 | g.219421468T>A | CA350694614 | DES | n.626T>A n.540T>A c.1152T>A (p.His384Gln) n.624T>A n.547T>A c.1149T>A (p.His383Gln) c.736-16T>A (n.736-16T>A) c.1083T>A (p.His361Gln) c.1131T>A (p.His377Gln) c.882T>A (p.His294Gln) | |
2 | g.219421468T>C | CA431284433 | DES | n.626T>C n.540T>C c.1152T>C (p.His384=) n.624T>C n.547T>C c.1149T>C (p.His383=) c.736-16T>C (n.736-16T>C) c.1083T>C (p.His361=) c.1131T>C (p.His377=) c.882T>C (p.His294=) | dbSNP |
2 | g.219421468T>G | CA350694616 | DES | n.626T>G n.540T>G c.1152T>G (p.His384Gln) n.624T>G n.547T>G c.1149T>G (p.His383Gln) c.736-16T>G (n.736-16T>G) c.1083T>G (p.His361Gln) c.1131T>G (p.His377Gln) c.882T>G (p.His294Gln) | |
2 | g.219421468T= | CA1329211305 | DES | n.626T= n.540T= c.1152T= (p.His384=) n.624T= n.547T= c.1149T= (p.His383=) c.736-16T= (n.736-16T=) c.1083T= (p.His361=) c.1131T= (p.His377=) c.882T= (p.His294=) | |
2 | g.219421469C>A | CA350694620 | DES | n.627C>A n.541C>A c.1153C>A (p.Leu385Met) n.625C>A n.548C>A c.1150C>A (p.Leu384Met) c.736-15C>A (n.736-15C>A) c.1084C>A (p.Leu362Met) c.1132C>A (p.Leu378Met) c.883C>A (p.Leu295Met) | |
2 | g.219421469C= | CA1329211306 | DES | n.627C= n.541C= c.1153C= (p.Leu385=) n.625C= n.548C= c.1150C= (p.Leu384=) c.736-15C= (n.736-15C=) c.1084C= (p.Leu362=) c.1132C= (p.Leu378=) c.883C= (p.Leu295=) | |
2 | g.219421469C>G | CA350694622 | DES | n.627C>G n.541C>G c.1153C>G (p.Leu385Val) n.625C>G n.548C>G c.1150C>G (p.Leu384Val) c.736-15C>G (n.736-15C>G) c.1084C>G (p.Leu362Val) c.1132C>G (p.Leu378Val) c.883C>G (p.Leu295Val) | ClinVar dbSNP |
2 | g.219421469C>T | CA431284435 | DES | n.627C>T n.541C>T c.1153C>T (p.Leu385=) n.625C>T n.548C>T c.1150C>T (p.Leu384=) c.736-15C>T (n.736-15C>T) c.1084C>T (p.Leu362=) c.1132C>T (p.Leu378=) c.883C>T (p.Leu295=) | dbSNP |
2 | g.219421470T>A | CA350694626 | DES | n.628T>A n.542T>A c.1154T>A (p.Leu385Gln) n.626T>A n.549T>A c.1151T>A (p.Leu384Gln) c.736-14T>A (n.736-14T>A) c.1085T>A (p.Leu362Gln) c.1133T>A (p.Leu378Gln) c.884T>A (p.Leu295Gln) | |
2 | g.219421470T>C | CA217023 | DES | n.628T>C n.542T>C c.1154T>C (p.Leu385Pro) n.626T>C n.549T>C c.1151T>C (p.Leu384Pro) c.736-14T>C (n.736-14T>C) c.1085T>C (p.Leu362Pro) c.1133T>C (p.Leu378Pro) c.884T>C (p.Leu295Pro) | ClinVar dbSNP |
2 | g.219421470T>G | CA350694629 | DES | n.628T>G n.542T>G c.1154T>G (p.Leu385Arg) n.626T>G n.549T>G c.1151T>G (p.Leu384Arg) c.736-14T>G (n.736-14T>G) c.1085T>G (p.Leu362Arg) c.1133T>G (p.Leu378Arg) c.884T>G (p.Leu295Arg) | |
2 | g.219421470T= | CA1329211307 | DES | n.628T= n.542T= c.1154T= (p.Leu385=) n.626T= n.549T= c.1151T= (p.Leu384=) c.736-14T= (n.736-14T=) c.1085T= (p.Leu362=) c.1133T= (p.Leu378=) c.884T= (p.Leu295=) | |
2 | g.219421471G>A | CA431284437 | DES | n.629G>A n.543G>A c.1155G>A (p.Leu385=) n.627G>A n.550G>A c.1152G>A (p.Leu384=) c.736-13G>A (n.736-13G>A) c.1086G>A (p.Leu362=) c.1134G>A (p.Leu378=) c.885G>A (p.Leu295=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219421471G>C | CA431284438 | DES | n.629G>C n.543G>C c.1155G>C (p.Leu385=) n.627G>C n.550G>C c.1152G>C (p.Leu384=) c.736-13G>C (n.736-13G>C) c.1086G>C (p.Leu362=) c.1134G>C (p.Leu378=) c.885G>C (p.Leu295=) | |
2 | g.219421471G= | CA1329211308 | DES | n.629G= n.543G= c.1155G= (p.Leu385=) n.627G= n.550G= c.1152G= (p.Leu384=) c.736-13G= (n.736-13G=) c.1086G= (p.Leu362=) c.1134G= (p.Leu378=) c.885G= (p.Leu295=) | |
2 | g.219421471G>T | CA431284439 | DES | n.629G>T n.543G>T c.1155G>T (p.Leu385=) n.627G>T n.550G>T c.1152G>T (p.Leu384=) c.736-13G>T (n.736-13G>T) c.1086G>T (p.Leu362=) c.1134G>T (p.Leu378=) c.885G>T (p.Leu295=) | |
2 | g.219421472C>A | CA350694634 | DES | n.630C>A n.544C>A c.1156C>A (p.Arg386Ser) n.628C>A n.551C>A c.1153C>A (p.Arg385Ser) c.736-12C>A (n.736-12C>A) c.1087C>A (p.Arg363Ser) c.1135C>A (p.Arg379Ser) c.886C>A (p.Arg296Ser) | |
2 | g.219421472C= | CA1329211309 | DES | n.630C= n.544C= c.1156C= (p.Arg386=) n.628C= n.551C= c.1153C= (p.Arg385=) c.736-12C= (n.736-12C=) c.1087C= (p.Arg363=) c.1135C= (p.Arg379=) c.886C= (p.Arg296=) | |
2 | g.219421472C>G | CA350694636 | DES | n.630C>G n.544C>G c.1156C>G (p.Arg386Gly) n.628C>G n.551C>G c.1153C>G (p.Arg385Gly) c.736-12C>G (n.736-12C>G) c.1087C>G (p.Arg363Gly) c.1135C>G (p.Arg379Gly) c.886C>G (p.Arg296Gly) | |
2 | g.219421472C>T | CA2125249 | DES | n.630C>T n.544C>T c.1156C>T (p.Arg386Cys) n.628C>T n.551C>T c.1153C>T (p.Arg385Cys) c.736-12C>T (n.736-12C>T) c.1087C>T (p.Arg363Cys) c.1135C>T (p.Arg379Cys) c.886C>T (p.Arg296Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219421473G>A | CA65983597 | DES | n.631G>A n.545G>A c.1157G>A (p.Arg386His) n.629G>A n.552G>A c.1154G>A (p.Arg385His) c.736-11G>A (n.736-11G>A) c.1088G>A (p.Arg363His) c.1136G>A (p.Arg379His) c.887G>A (p.Arg296His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219421473G>C | CA350694642 | DES | n.631G>C n.545G>C c.1157G>C (p.Arg386Pro) n.629G>C n.552G>C c.1154G>C (p.Arg385Pro) c.736-11G>C (n.736-11G>C) c.1088G>C (p.Arg363Pro) c.1136G>C (p.Arg379Pro) c.887G>C (p.Arg296Pro) | |
2 | g.219421473G= | CA1329211311 | DES | n.631G= n.545G= c.1157G= (p.Arg386=) n.629G= n.552G= c.1154G= (p.Arg385=) c.736-11G= (n.736-11G=) c.1088G= (p.Arg363=) c.1136G= (p.Arg379=) c.887G= (p.Arg296=) | |
2 | g.219421473G>T | CA350694645 | DES | n.631G>T n.545G>T c.1157G>T (p.Arg386Leu) n.629G>T n.552G>T c.1154G>T (p.Arg385Leu) c.736-11G>T (n.736-11G>T) c.1088G>T (p.Arg363Leu) c.1136G>T (p.Arg379Leu) c.887G>T (p.Arg296Leu) | ClinVar COSMIC |
2 | g.219421473dup | CA2843174794 | DES | n.631dup n.545dup c.1157dup (p.Glu387ArgfsTer?) n.629dup n.552dup c.1154dup (p.Glu386ArgfsTer?) c.736-11dup (n.736-11dup) c.1088dup (p.Glu364ArgfsTer?) c.1136dup (p.Glu380ArgfsTer?) c.887dup (p.Glu297ArgfsTer?) | |
2 | g.219421473_219421476delinsGCGA | CA1329211310 | DES | n.631_634delinsGCGA n.545_548delinsGCGA c.1157_1160delinsGCGA (p.Arg386=) n.629_632delinsGCGA n.552_555delinsGCGA c.1154_1157delinsGCGA (p.Arg385=) c.736-11_736-8delinsGCGA (n.736-11_736-8delinsGCGA) c.1088_1091delinsGCGA (p.Arg363=) c.1136_1139delinsGCGA (p.Arg379=) c.887_890delinsGCGA (p.Arg296=) | |
2 | g.219421474C>A | CA431284443 | DES | n.632C>A n.546C>A c.1158C>A (p.Arg386=) n.630C>A n.553C>A c.1155C>A (p.Arg385=) c.736-10C>A (n.736-10C>A) c.1089C>A (p.Arg363=) c.1137C>A (p.Arg379=) c.888C>A (p.Arg296=) | dbSNP |
2 | g.219421474C= | CA1329211312 | DES | n.632C= n.546C= c.1158C= (p.Arg386=) n.630C= n.553C= c.1155C= (p.Arg385=) c.736-10C= (n.736-10C=) c.1089C= (p.Arg363=) c.1137C= (p.Arg379=) c.888C= (p.Arg296=) | |
2 | g.219421474C>G | CA431284444 | DES | n.632C>G n.546C>G c.1158C>G (p.Arg386=) n.630C>G n.553C>G c.1155C>G (p.Arg385=) c.736-10C>G (n.736-10C>G) c.1089C>G (p.Arg363=) c.1137C>G (p.Arg379=) c.888C>G (p.Arg296=) | dbSNP |
2 | g.219421474C>T | CA2125250 | DES | n.632C>T n.546C>T c.1158C>T (p.Arg386=) n.630C>T n.553C>T c.1155C>T (p.Arg385=) c.736-10C>T (n.736-10C>T) c.1089C>T (p.Arg363=) c.1137C>T (p.Arg379=) c.888C>T (p.Arg296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219421474_219421476del | CA891843392 | DES | n.632_634del n.546_548del c.1158_1160del (p.Glu387del) n.630_632del n.553_555del c.1155_1157del (p.Glu386del) c.736-10_736-8del (n.736-10_736-8del) c.1089_1091del (p.Glu364del) c.1137_1139del (p.Glu380del) c.888_890del (p.Glu297del) | ClinVar dbSNP |
2 | g.219421474_219421476delinsTACCAGGACCTGCTG | CA2573135388 | DES | n.632_634delinsTACCAGGACCTGCTG n.546_548delinsTACCAGGACCTGCTG c.1158_1160delinsTACCAGGACCTGCTG (p.Glu387delinsThrArgThrCysTrp) n.630_632delinsTACCAGGACCTGCTG n.553_555delinsTACCAGGACCTGCTG c.1155_1157delinsTACCAGGACCTGCTG (p.Glu386delinsThrArgThrCysTrp) c.736-10_736-8delinsTACCAGGACCTGCTG (n.736-10_736-8delinsTACCAGGACCTGCTG) c.1089_1091delinsTACCAGGACCTGCTG (p.Glu364delinsThrArgThrCysTrp) c.1137_1139delinsTACCAGGACCTGCTG (p.Glu380delinsThrArgThrCysTrp) c.888_890delinsTACCAGGACCTGCTG (p.Glu297delinsThrArgThrCysTrp) | ClinVar dbSNP |
2 | g.219421475G>A | CA10581951 | DES | n.633G>A n.547G>A c.1159G>A (p.Glu387Lys) n.631G>A n.554G>A c.1156G>A (p.Glu386Lys) c.736-9G>A (n.736-9G>A) c.1090G>A (p.Glu364Lys) c.1138G>A (p.Glu380Lys) c.889G>A (p.Glu297Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.219421475G>C | CA350694658 | DES | n.633G>C n.547G>C c.1159G>C (p.Glu387Gln) n.631G>C n.554G>C c.1156G>C (p.Glu386Gln) c.736-9G>C (n.736-9G>C) c.1090G>C (p.Glu364Gln) c.1138G>C (p.Glu380Gln) c.889G>C (p.Glu297Gln) | |
2 | g.219421475G= | CA1329211313 | DES | n.633G= n.547G= c.1159G= (p.Glu387=) n.631G= n.554G= c.1156G= (p.Glu386=) c.736-9G= (n.736-9G=) c.1090G= (p.Glu364=) c.1138G= (p.Glu380=) c.889G= (p.Glu297=) | |
2 | g.219421475G>T | CA350694661 | DES | n.633G>T n.547G>T c.1159G>T (p.Glu387Ter) n.631G>T n.554G>T c.1156G>T (p.Glu386Ter) c.736-9G>T (n.736-9G>T) c.1090G>T (p.Glu364Ter) c.1138G>T (p.Glu380Ter) c.889G>T (p.Glu297Ter) | gnomAD v4 |
2 | g.219421476A>C | CA350694665 | DES | n.634A>C n.548A>C c.1160A>C (p.Glu387Ala) n.632A>C n.555A>C c.1157A>C (p.Glu386Ala) c.736-8A>C (n.736-8A>C) c.1091A>C (p.Glu364Ala) c.1139A>C (p.Glu380Ala) c.890A>C (p.Glu297Ala) | |
2 | g.219421476A>G | CA350694668 | DES | n.634A>G n.548A>G c.1160A>G (p.Glu387Gly) n.632A>G n.555A>G c.1157A>G (p.Glu386Gly) c.736-8A>G (n.736-8A>G) c.1091A>G (p.Glu364Gly) c.1139A>G (p.Glu380Gly) c.890A>G (p.Glu297Gly) | |
2 | g.219421476A>T | CA350694671 | DES | n.634A>T n.548A>T c.1160A>T (p.Glu387Val) n.632A>T n.555A>T c.1157A>T (p.Glu386Val) c.736-8A>T (n.736-8A>T) c.1091A>T (p.Glu364Val) c.1139A>T (p.Glu380Val) c.890A>T (p.Glu297Val) | |
2 | g.219421477G>A | CA431284452 | DES | n.635G>A n.549G>A c.1161G>A (p.Glu387=) n.633G>A n.556G>A c.1158G>A (p.Glu386=) c.736-7G>A (n.736-7G>A) c.1092G>A (p.Glu364=) c.1140G>A (p.Glu380=) c.891G>A (p.Glu297=) | gnomAD v4 |
2 | g.219421477G>C | CA350694675 | DES | n.635G>C n.549G>C c.1161G>C (p.Glu387Asp) n.633G>C n.556G>C c.1158G>C (p.Glu386Asp) c.736-7G>C (n.736-7G>C) c.1092G>C (p.Glu364Asp) c.1140G>C (p.Glu380Asp) c.891G>C (p.Glu297Asp) | gnomAD v3 gnomAD v4 |
2 | g.219421477G>T | CA350694678 | DES | n.635G>T n.549G>T c.1161G>T (p.Glu387Asp) n.633G>T n.556G>T c.1158G>T (p.Glu386Asp) c.736-7G>T (n.736-7G>T) c.1092G>T (p.Glu364Asp) c.1140G>T (p.Glu380Asp) c.891G>T (p.Glu297Asp) | |
2 | g.219421478T>A | CA350694683 | DES | n.636T>A n.550T>A c.1162T>A (p.Tyr388Asn) n.634T>A n.557T>A c.1159T>A (p.Tyr387Asn) c.736-6T>A (n.736-6T>A) c.1093T>A (p.Tyr365Asn) c.1141T>A (p.Tyr381Asn) c.892T>A (p.Tyr298Asn) | |
2 | g.219421478T>C | CA350694684 | DES | n.636T>C n.550T>C c.1162T>C (p.Tyr388His) n.634T>C n.557T>C c.1159T>C (p.Tyr387His) c.736-6T>C (n.736-6T>C) c.1093T>C (p.Tyr365His) c.1141T>C (p.Tyr381His) c.892T>C (p.Tyr298His) | |
2 | g.219421478T>G | CA350694688 | DES | n.636T>G n.550T>G c.1162T>G (p.Tyr388Asp) n.634T>G n.557T>G c.1159T>G (p.Tyr387Asp) c.736-6T>G (n.736-6T>G) c.1093T>G (p.Tyr365Asp) c.1141T>G (p.Tyr381Asp) c.892T>G (p.Tyr298Asp) | gnomAD v3 gnomAD v4 |
2 | g.219421479A>C | CA350694703 | DES | n.637A>C n.551A>C c.1163A>C (p.Tyr388Ser) n.635A>C n.558A>C c.1160A>C (p.Tyr387Ser) c.736-5A>C (n.736-5A>C) c.1094A>C (p.Tyr365Ser) c.1142A>C (p.Tyr381Ser) c.893A>C (p.Tyr298Ser) | |
2 | g.219421479A>G | CA350694700 | DES | n.637A>G n.551A>G c.1163A>G (p.Tyr388Cys) n.635A>G n.558A>G c.1160A>G (p.Tyr387Cys) c.736-5A>G (n.736-5A>G) c.1094A>G (p.Tyr365Cys) c.1142A>G (p.Tyr381Cys) c.893A>G (p.Tyr298Cys) | |
2 | g.219421479A>T | CA350694693 | DES | n.637A>T n.551A>T c.1163A>T (p.Tyr388Phe) n.635A>T n.558A>T c.1160A>T (p.Tyr387Phe) c.736-5A>T (n.736-5A>T) c.1094A>T (p.Tyr365Phe) c.1142A>T (p.Tyr381Phe) c.893A>T (p.Tyr298Phe) | |
2 | g.219421480C>A | CA350694710 | DES | n.638C>A n.552C>A c.1164C>A (p.Tyr388Ter) n.636C>A n.559C>A c.1161C>A (p.Tyr387Ter) c.736-4C>A (n.736-4C>A) c.1095C>A (p.Tyr365Ter) c.1143C>A (p.Tyr381Ter) c.894C>A (p.Tyr298Ter) | |
2 | g.219421480C>G | CA350694708 | DES | n.638C>G n.552C>G c.1164C>G (p.Tyr388Ter) n.636C>G n.559C>G c.1161C>G (p.Tyr387Ter) c.736-4C>G (n.736-4C>G) c.1095C>G (p.Tyr365Ter) c.1143C>G (p.Tyr381Ter) c.894C>G (p.Tyr298Ter) | |
2 | g.219421480C>T | CA431284454 | DES | n.638C>T n.552C>T c.1164C>T (p.Tyr388=) n.636C>T n.559C>T c.1161C>T (p.Tyr387=) c.736-4C>T (n.736-4C>T) c.1095C>T (p.Tyr365=) c.1143C>T (p.Tyr381=) c.894C>T (p.Tyr298=) | gnomAD v4 |
2 | g.219421481C>A | CA350694716 | DES | n.639C>A n.553C>A c.1165C>A (p.Gln389Lys) n.637C>A n.560C>A c.1162C>A (p.Gln388Lys) c.736-3C>A (n.736-3C>A) c.1096C>A (p.Gln366Lys) c.1144C>A (p.Gln382Lys) c.895C>A (p.Gln299Lys) | |
2 | g.219421481C>G | CA350694713 | DES | n.639C>G n.553C>G c.1165C>G (p.Gln389Glu) n.637C>G n.560C>G c.1162C>G (p.Gln388Glu) c.736-3C>G (n.736-3C>G) c.1096C>G (p.Gln366Glu) c.1144C>G (p.Gln382Glu) c.895C>G (p.Gln299Glu) | |
2 | g.219421481C>T | CA350694719 | DES | n.639C>T n.553C>T c.1165C>T (p.Gln389Ter) n.637C>T n.560C>T c.1162C>T (p.Gln388Ter) c.736-3C>T (n.736-3C>T) c.1096C>T (p.Gln366Ter) c.1144C>T (p.Gln382Ter) c.895C>T (p.Gln299Ter) | |
2 | g.219421482A= | CA1329211314 | DES | n.640A= n.554A= c.1166A= (p.Gln389=) n.638A= n.561A= c.1163A= (p.Gln388=) c.736-2A= (n.736-2A=) c.1097A= (p.Gln366=) c.1145A= (p.Gln382=) c.896A= (p.Gln299=) | |
2 | g.219421482A>C | CA217025 | DES | n.640A>C n.554A>C c.1166A>C (p.Gln389Pro) n.638A>C n.561A>C c.1163A>C (p.Gln388Pro) c.736-2A>C (n.736-2A>C) c.1097A>C (p.Gln366Pro) c.1145A>C (p.Gln382Pro) c.896A>C (p.Gln299Pro) | ClinVar dbSNP |
2 | g.219421482A>G | CA350694726 | DES | n.640A>G n.554A>G c.1166A>G (p.Gln389Arg) n.638A>G n.561A>G c.1163A>G (p.Gln388Arg) c.736-2A>G (n.736-2A>G) c.1097A>G (p.Gln366Arg) c.1145A>G (p.Gln382Arg) c.896A>G (p.Gln299Arg) | ClinVar gnomAD v4 |
2 | g.219421482A>T | CA350694729 | DES | n.640A>T n.554A>T c.1166A>T (p.Gln389Leu) n.638A>T n.561A>T c.1163A>T (p.Gln388Leu) c.736-2A>T (n.736-2A>T) c.1097A>T (p.Gln366Leu) c.1145A>T (p.Gln382Leu) c.896A>T (p.Gln299Leu) | |
2 | g.219421483G>A | CA431284457 | DES | n.641G>A n.555G>A c.1167G>A (p.Gln389=) n.639G>A n.562G>A c.1164G>A (p.Gln388=) c.736-1G>A (n.736-1G>A) c.1098G>A (p.Gln366=) c.1146G>A (p.Gln382=) c.897G>A (p.Gln299=) | |
2 | g.219421483G>C | CA350694734 | DES | n.641G>C n.555G>C c.1167G>C (p.Gln389His) n.639G>C n.562G>C c.1164G>C (p.Gln388His) c.736-1G>C (n.736-1G>C) c.1098G>C (p.Gln366His) c.1146G>C (p.Gln382His) c.897G>C (p.Gln299His) | |
2 | g.219421483G= | CA1329211315 | DES | n.641G= n.555G= c.1167G= (p.Gln389=) n.639G= n.562G= c.1164G= (p.Gln388=) c.736-1G= (n.736-1G=) c.1098G= (p.Gln366=) c.1146G= (p.Gln382=) c.897G= (p.Gln299=) | |
2 | g.219421483G>T | CA246640 | DES | n.641G>T n.555G>T c.1167G>T (p.Gln389His) n.639G>T n.562G>T c.1164G>T (p.Gln388His) c.736-1G>T (n.736-1G>T) c.1098G>T (p.Gln366His) c.1146G>T (p.Gln382His) c.897G>T (p.Gln299His) | ClinVar dbSNP |
2 | g.219421484G>A | CA350694739 | DES | n.642G>A n.556G>A c.1168G>A (p.Asp390Asn) n.640G>A n.563G>A c.1165G>A (p.Asp389Asn) c.736G>A (p.Asp246Asn) c.1099G>A (p.Asp367Asn) c.1147G>A (p.Asp383Asn) c.898G>A (p.Asp300Asn) | |
2 | g.219421484G>C | CA350694742 | DES | n.642G>C n.556G>C c.1168G>C (p.Asp390His) n.640G>C n.563G>C c.1165G>C (p.Asp389His) c.736G>C (p.Asp246His) c.1099G>C (p.Asp367His) c.1147G>C (p.Asp383His) c.898G>C (p.Asp300His) | |
2 | g.219421484G>T | CA350694745 | DES | n.642G>T n.556G>T c.1168G>T (p.Asp390Tyr) n.640G>T n.563G>T c.1165G>T (p.Asp389Tyr) c.736G>T (p.Asp246Tyr) c.1099G>T (p.Asp367Tyr) c.1147G>T (p.Asp383Tyr) c.898G>T (p.Asp300Tyr) | |
2 | g.219421485A>C | CA350694749 | DES | n.643A>C n.557A>C c.1169A>C (p.Asp390Ala) n.641A>C n.564A>C c.1166A>C (p.Asp389Ala) c.737A>C (p.Asp246Ala) c.1100A>C (p.Asp367Ala) c.1148A>C (p.Asp383Ala) c.899A>C (p.Asp300Ala) | |
2 | g.219421485A>G | CA350694752 | DES | n.643A>G n.557A>G c.1169A>G (p.Asp390Gly) n.641A>G n.564A>G c.1166A>G (p.Asp389Gly) c.737A>G (p.Asp246Gly) c.1100A>G (p.Asp367Gly) c.1148A>G (p.Asp383Gly) c.899A>G (p.Asp300Gly) | |
2 | g.219421485A>T | CA350694755 | DES | n.643A>T n.557A>T c.1169A>T (p.Asp390Val) n.641A>T n.564A>T c.1166A>T (p.Asp389Val) c.737A>T (p.Asp246Val) c.1100A>T (p.Asp367Val) c.1148A>T (p.Asp383Val) c.899A>T (p.Asp300Val) | |
2 | g.219421486C>A | CA350694761 | DES | n.644C>A n.558C>A c.1170C>A (p.Asp390Glu) n.642C>A n.565C>A c.1167C>A (p.Asp389Glu) c.738C>A (p.Asp246Glu) c.1101C>A (p.Asp367Glu) c.1149C>A (p.Asp383Glu) c.900C>A (p.Asp300Glu) | |
2 | g.219421486C= | CA1329211316 | DES | n.644C= n.558C= c.1170C= (p.Asp390=) n.642C= n.565C= c.1167C= (p.Asp389=) c.738C= (p.Asp246=) c.1101C= (p.Asp367=) c.1149C= (p.Asp383=) c.900C= (p.Asp300=) | |
2 | g.219421486C>G | CA350694759 | DES | n.644C>G n.558C>G c.1170C>G (p.Asp390Glu) n.642C>G n.565C>G c.1167C>G (p.Asp389Glu) c.738C>G (p.Asp246Glu) c.1101C>G (p.Asp367Glu) c.1149C>G (p.Asp383Glu) c.900C>G (p.Asp300Glu) | |
2 | g.219421486C>T | CA431284464 | DES | n.644C>T n.558C>T c.1170C>T (p.Asp390=) n.642C>T n.565C>T c.1167C>T (p.Asp389=) c.738C>T (p.Asp246=) c.1101C>T (p.Asp367=) c.1149C>T (p.Asp383=) c.900C>T (p.Asp300=) | dbSNP gnomAD v4 |
2 | g.219421487del | CA2580065864 | DES | n.645del n.559del c.1171del (p.Leu391CysfsTer4) n.643del n.566del c.1168del (p.Leu390CysfsTer4) c.739del (p.Leu247CysfsTer4) c.1102del (p.Leu368CysfsTer4) c.1150del (p.Leu384CysfsTer4) c.901del (p.Leu301CysfsTer4) | ClinVar |
2 | g.219421487C>A | CA350694764 | DES | n.645C>A n.559C>A c.1171C>A (p.Leu391Met) n.643C>A n.566C>A c.1168C>A (p.Leu390Met) c.739C>A (p.Leu247Met) c.1102C>A (p.Leu368Met) c.1150C>A (p.Leu384Met) c.901C>A (p.Leu301Met) | |
2 | g.219421487C>G | CA350694766 | DES | n.645C>G n.559C>G c.1171C>G (p.Leu391Val) n.643C>G n.566C>G c.1168C>G (p.Leu390Val) c.739C>G (p.Leu247Val) c.1102C>G (p.Leu368Val) c.1150C>G (p.Leu384Val) c.901C>G (p.Leu301Val) | |
2 | g.219421487C>T | CA431284465 | DES | n.645C>T n.559C>T c.1171C>T (p.Leu391=) n.643C>T n.566C>T c.1168C>T (p.Leu390=) c.739C>T (p.Leu247=) c.1102C>T (p.Leu368=) c.1150C>T (p.Leu384=) c.901C>T (p.Leu301=) | |
2 | g.219421488T>A | CA350694769 | DES | n.646T>A n.560T>A c.1172T>A (p.Leu391Gln) n.644T>A n.567T>A c.1169T>A (p.Leu390Gln) c.740T>A (p.Leu247Gln) c.1103T>A (p.Leu368Gln) c.1151T>A (p.Leu384Gln) c.902T>A (p.Leu301Gln) | |
2 | g.219421488T>C | CA350694771 | DES | n.646T>C n.560T>C c.1172T>C (p.Leu391Pro) n.644T>C n.567T>C c.1169T>C (p.Leu390Pro) c.740T>C (p.Leu247Pro) c.1103T>C (p.Leu368Pro) c.1151T>C (p.Leu384Pro) c.902T>C (p.Leu301Pro) | ClinVar dbSNP |
2 | g.219421488T>G | CA350694775 | DES | n.646T>G n.560T>G c.1172T>G (p.Leu391Arg) n.644T>G n.567T>G c.1169T>G (p.Leu390Arg) c.740T>G (p.Leu247Arg) c.1103T>G (p.Leu368Arg) c.1151T>G (p.Leu384Arg) c.902T>G (p.Leu301Arg) | ClinVar dbSNP |
2 | g.219421488T= | CA1329211317 | DES | n.646T= n.560T= c.1172T= (p.Leu391=) n.644T= n.567T= c.1169T= (p.Leu390=) c.740T= (p.Leu247=) c.1103T= (p.Leu368=) c.1151T= (p.Leu384=) c.902T= (p.Leu301=) | |
2 | g.219421489G>A | CA2125251 | DES | n.647G>A n.561G>A c.1173G>A (p.Leu391=) n.645G>A n.568G>A c.1170G>A (p.Leu390=) c.741G>A (p.Leu247=) c.1104G>A (p.Leu368=) c.1152G>A (p.Leu384=) c.903G>A (p.Leu301=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219421489G>C | CA431284466 | DES | n.647G>C n.561G>C c.1173G>C (p.Leu391=) n.645G>C n.568G>C c.1170G>C (p.Leu390=) c.741G>C (p.Leu247=) c.1104G>C (p.Leu368=) c.1152G>C (p.Leu384=) c.903G>C (p.Leu301=) | |
2 | g.219421489G= | CA1329211318 | DES | n.647G= n.561G= c.1173G= (p.Leu391=) n.645G= n.568G= c.1170G= (p.Leu390=) c.741G= (p.Leu247=) c.1104G= (p.Leu368=) c.1152G= (p.Leu384=) c.903G= (p.Leu301=) | |
2 | g.219421489G>T | CA431284467 | DES | n.647G>T n.561G>T c.1173G>T (p.Leu391=) n.645G>T n.568G>T c.1170G>T (p.Leu390=) c.741G>T (p.Leu247=) c.1104G>T (p.Leu368=) c.1152G>T (p.Leu384=) c.903G>T (p.Leu301=) | |
2 | g.219421489_219421490dup | CA2539756905 | DES | n.647_648dup n.561_562dup c.1173_1174dup (p.Leu392ArgfsTer4) n.645_646dup n.568_569dup c.1170_1171dup (p.Leu391ArgfsTer4) c.741_742dup (p.Leu248ArgfsTer4) c.1104_1105dup (p.Leu369ArgfsTer4) c.1152_1153dup (p.Leu385ArgfsTer4) c.903_904dup (p.Leu302ArgfsTer4) | |
2 | g.219421490C>A | CA350694779 | DES | n.648C>A n.562C>A c.1174C>A (p.Leu392Ile) n.646C>A n.569C>A c.1171C>A (p.Leu391Ile) c.742C>A (p.Leu248Ile) c.1105C>A (p.Leu369Ile) c.1153C>A (p.Leu385Ile) c.904C>A (p.Leu302Ile) | |
2 | g.219421490C>G | CA350694781 | DES | n.648C>G n.562C>G c.1174C>G (p.Leu392Val) n.646C>G n.569C>G c.1171C>G (p.Leu391Val) c.742C>G (p.Leu248Val) c.1105C>G (p.Leu369Val) c.1153C>G (p.Leu385Val) c.904C>G (p.Leu302Val) | |
2 | g.219421490C>T | CA350694784 | DES | n.648C>T n.562C>T c.1174C>T (p.Leu392Phe) n.646C>T n.569C>T c.1171C>T (p.Leu391Phe) c.742C>T (p.Leu248Phe) c.1105C>T (p.Leu369Phe) c.1153C>T (p.Leu385Phe) c.904C>T (p.Leu302Phe) | |
2 | g.219421490_219421491insGCT | CA2511289613 | DES | n.648_649insGCT n.562_563insGCT c.1174_1175insGCT (p.Leu392delinsArgPhe) n.646_647insGCT n.569_570insGCT c.1171_1172insGCT (p.Leu391delinsArgPhe) c.742_743insGCT (p.Leu248delinsArgPhe) c.1105_1106insGCT (p.Leu369delinsArgPhe) c.1153_1154insGCT (p.Leu385delinsArgPhe) c.904_905insGCT (p.Leu302delinsArgPhe) | |
2 | g.219421490_219421491insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA | CA2754326071 | DES | n.648_649insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA n.562_563insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA c.1174_1175insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu392delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle) n.646_647insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA n.569_570insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA c.1171_1172insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu391delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle) c.742_743insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu248delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle) c.1105_1106insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu369delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle) c.1153_1154insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu385delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle) c.904_905insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu302delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle) | |
2 | g.219421491T>A | CA350694788 | DES | n.649T>A n.563T>A c.1175T>A (p.Leu392His) n.647T>A n.570T>A c.1172T>A (p.Leu391His) c.743T>A (p.Leu248His) c.1106T>A (p.Leu369His) c.1154T>A (p.Leu385His) c.905T>A (p.Leu302His) | |
2 | g.219421491T>C | CA217027 | DES | n.649T>C n.563T>C c.1175T>C (p.Leu392Pro) n.647T>C n.570T>C c.1172T>C (p.Leu391Pro) c.743T>C (p.Leu248Pro) c.1106T>C (p.Leu369Pro) c.1154T>C (p.Leu385Pro) c.905T>C (p.Leu302Pro) | ClinVar dbSNP |
2 | g.219421491T>G | CA350694793 | DES | n.649T>G n.563T>G c.1175T>G (p.Leu392Arg) n.647T>G n.570T>G c.1172T>G (p.Leu391Arg) c.743T>G (p.Leu248Arg) c.1106T>G (p.Leu369Arg) c.1154T>G (p.Leu385Arg) c.905T>G (p.Leu302Arg) | |
2 | g.219421491T= | CA1329211319 | DES | n.649T= n.563T= c.1175T= (p.Leu392=) n.647T= n.570T= c.1172T= (p.Leu391=) c.743T= (p.Leu248=) c.1106T= (p.Leu369=) c.1154T= (p.Leu385=) c.905T= (p.Leu302=) | |
2 | g.219421491_219421492insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA | CA2560026055 | DES | n.649_650insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA n.563_564insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA c.1175_1176insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn393ArgfsTer?) n.647_648insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA n.570_571insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA c.1172_1173insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn392ArgfsTer?) c.743_744insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn249ArgfsTer?) c.1106_1107insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn370ArgfsTer?) c.1154_1155insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn386ArgfsTer?) c.905_906insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn303ArgfsTer?) | |
2 | g.219421492C>A | CA431284468 | DES | n.650C>A n.564C>A c.1176C>A (p.Leu392=) n.648C>A n.571C>A c.1173C>A (p.Leu391=) c.744C>A (p.Leu248=) c.1107C>A (p.Leu369=) c.1155C>A (p.Leu385=) c.906C>A (p.Leu302=) | |
2 | g.219421492C= | CA1329211320 | DES | n.650C= n.564C= c.1176C= (p.Leu392=) n.648C= n.571C= c.1173C= (p.Leu391=) c.744C= (p.Leu248=) c.1107C= (p.Leu369=) c.1155C= (p.Leu385=) c.906C= (p.Leu302=) | |
2 | g.219421492C>G | CA431284469 | DES | n.650C>G n.564C>G c.1176C>G (p.Leu392=) n.648C>G n.571C>G c.1173C>G (p.Leu391=) c.744C>G (p.Leu248=) c.1107C>G (p.Leu369=) c.1155C>G (p.Leu385=) c.906C>G (p.Leu302=) | ClinVar dbSNP gnomAD v4 |
2 | g.219421492C>T | CA431284470 | DES | n.650C>T n.564C>T c.1176C>T (p.Leu392=) n.648C>T n.571C>T c.1173C>T (p.Leu391=) c.744C>T (p.Leu248=) c.1107C>T (p.Leu369=) c.1155C>T (p.Leu385=) c.906C>T (p.Leu302=) | gnomAD v3 gnomAD v4 |
2 | g.219421492_219421493insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT | CA2754326073 | DES | n.650_651insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT n.564_565insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT c.1176_1177insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn393GlufsTer22) n.648_649insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT n.571_572insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT c.1173_1174insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn392GlufsTer22) c.744_745insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn249GlufsTer22) c.1107_1108insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn370GlufsTer22) c.1155_1156insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn386GlufsTer22) c.906_907insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn303GlufsTer22) | |
2 | g.219421493A>C | CA350694801 | DES | n.651A>C n.565A>C c.1177A>C (p.Asn393His) n.649A>C n.572A>C c.1174A>C (p.Asn392His) c.745A>C (p.Asn249His) c.1108A>C (p.Asn370His) c.1156A>C (p.Asn386His) c.907A>C (p.Asn303His) | |
2 | g.219421493A>G | CA350694804 | DES | n.651A>G n.565A>G c.1177A>G (p.Asn393Asp) n.649A>G n.572A>G c.1174A>G (p.Asn392Asp) c.745A>G (p.Asn249Asp) c.1108A>G (p.Asn370Asp) c.1156A>G (p.Asn386Asp) c.907A>G (p.Asn303Asp) | gnomAD v4 |
2 | g.219421493A>T | CA350694798 | DES | n.651A>T n.565A>T c.1177A>T (p.Asn393Tyr) n.649A>T n.572A>T c.1174A>T (p.Asn392Tyr) c.745A>T (p.Asn249Tyr) c.1108A>T (p.Asn370Tyr) c.1156A>T (p.Asn386Tyr) c.907A>T (p.Asn303Tyr) | |
2 | g.219421494A= | CA1329211321 | DES | n.652A= n.566A= c.1178A= (p.Asn393=) n.650A= n.573A= c.1175A= (p.Asn392=) c.746A= (p.Asn249=) c.1109A= (p.Asn370=) c.1157A= (p.Asn386=) c.908A= (p.Asn303=) | |
2 | g.219421494A>C | CA350694808 | DES | n.652A>C n.566A>C c.1178A>C (p.Asn393Thr) n.650A>C n.573A>C c.1175A>C (p.Asn392Thr) c.746A>C (p.Asn249Thr) c.1109A>C (p.Asn370Thr) c.1157A>C (p.Asn386Thr) c.908A>C (p.Asn303Thr) | |
2 | g.219421494A>G | CA2125252 | DES | n.652A>G n.566A>G c.1178A>G (p.Asn393Ser) n.650A>G n.573A>G c.1175A>G (p.Asn392Ser) c.746A>G (p.Asn249Ser) c.1109A>G (p.Asn370Ser) c.1157A>G (p.Asn386Ser) c.908A>G (p.Asn303Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219421494A>T | CA217030 | DES | n.652A>T n.566A>T c.1178A>T (p.Asn393Ile) n.650A>T n.573A>T c.1175A>T (p.Asn392Ile) c.746A>T (p.Asn249Ile) c.1109A>T (p.Asn370Ile) c.1157A>T (p.Asn386Ile) c.908A>T (p.Asn303Ile) | ClinVar dbSNP |
2 | g.219421494_219421495insGCTGTGCCTCGGGGTCTGCGG | CA2518076333 | DES | n.652_653insGCTGTGCCTCGGGGTCTGCGG n.566_567insGCTGTGCCTCGGGGTCTGCGG c.1178_1179insGCTGTGCCTCGGGGTCTGCGG (p.Asn393delinsLysLeuCysLeuGlyValCysGly) n.650_651insGCTGTGCCTCGGGGTCTGCGG n.573_574insGCTGTGCCTCGGGGTCTGCGG c.1175_1176insGCTGTGCCTCGGGGTCTGCGG (p.Asn392delinsLysLeuCysLeuGlyValCysGly) c.746_747insGCTGTGCCTCGGGGTCTGCGG (p.Asn249delinsLysLeuCysLeuGlyValCysGly) c.1109_1110insGCTGTGCCTCGGGGTCTGCGG (p.Asn370delinsLysLeuCysLeuGlyValCysGly) c.1157_1158insGCTGTGCCTCGGGGTCTGCGG (p.Asn386delinsLysLeuCysLeuGlyValCysGly) c.908_909insGCTGTGCCTCGGGGTCTGCGG (p.Asn303delinsLysLeuCysLeuGlyValCysGly) | |
2 | g.219421495C>A | CA350694816 | DES | n.653C>A n.567C>A c.1179C>A (p.Asn393Lys) n.651C>A n.574C>A c.1176C>A (p.Asn392Lys) c.747C>A (p.Asn249Lys) c.1110C>A (p.Asn370Lys) c.1158C>A (p.Asn386Lys) c.909C>A (p.Asn303Lys) | |
2 | g.219421495C= | CA1329211322 | DES | n.653C= n.567C= c.1179C= (p.Asn393=) n.651C= n.574C= c.1176C= (p.Asn392=) c.747C= (p.Asn249=) c.1110C= (p.Asn370=) c.1158C= (p.Asn386=) c.909C= (p.Asn303=) | |
2 | g.219421495C>G | CA350694819 | DES | n.653C>G n.567C>G c.1179C>G (p.Asn393Lys) n.651C>G n.574C>G c.1176C>G (p.Asn392Lys) c.747C>G (p.Asn249Lys) c.1110C>G (p.Asn370Lys) c.1158C>G (p.Asn386Lys) c.909C>G (p.Asn303Lys) | |
2 | g.219421495C>T | CA65983651 | DES | n.653C>T n.567C>T c.1179C>T (p.Asn393=) n.651C>T n.574C>T c.1176C>T (p.Asn392=) c.747C>T (p.Asn249=) c.1110C>T (p.Asn370=) c.1158C>T (p.Asn386=) c.909C>T (p.Asn303=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219421496G>A | CA2125253 | DES | n.654G>A n.568G>A c.1180G>A (p.Val394Met) n.652G>A n.575G>A c.1177G>A (p.Val393Met) c.748G>A (p.Val250Met) c.1111G>A (p.Val371Met) c.1159G>A (p.Val387Met) c.910G>A (p.Val304Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219421496G>C | CA350694824 | DES | n.654G>C n.568G>C c.1180G>C (p.Val394Leu) n.652G>C n.575G>C c.1177G>C (p.Val393Leu) c.748G>C (p.Val250Leu) c.1111G>C (p.Val371Leu) c.1159G>C (p.Val387Leu) c.910G>C (p.Val304Leu) | |
2 | g.219421496G= | CA1329211323 | DES | n.654G= n.568G= c.1180G= (p.Val394=) n.652G= n.575G= c.1177G= (p.Val393=) c.748G= (p.Val250=) c.1111G= (p.Val371=) c.1159G= (p.Val387=) c.910G= (p.Val304=) | |
2 | g.219421496G>T | CA350694836 | DES | n.654G>T n.568G>T c.1180G>T (p.Val394Leu) n.652G>T n.575G>T c.1177G>T (p.Val393Leu) c.748G>T (p.Val250Leu) c.1111G>T (p.Val371Leu) c.1159G>T (p.Val387Leu) c.910G>T (p.Val304Leu) | ClinVar dbSNP |
2 | g.219421497T>A | CA350694841 | DES | n.655T>A n.569T>A c.1181T>A (p.Val394Glu) n.653T>A n.576T>A c.1178T>A (p.Val393Glu) c.749T>A (p.Val250Glu) c.1112T>A (p.Val371Glu) c.1160T>A (p.Val387Glu) c.911T>A (p.Val304Glu) | |
2 | g.219421497T>C | CA350694844 | DES | n.655T>C n.569T>C c.1181T>C (p.Val394Ala) n.653T>C n.576T>C c.1178T>C (p.Val393Ala) c.749T>C (p.Val250Ala) c.1112T>C (p.Val371Ala) c.1160T>C (p.Val387Ala) c.911T>C (p.Val304Ala) | |
2 | g.219421497T>G | CA350694846 | DES | n.655T>G n.569T>G c.1181T>G (p.Val394Gly) n.653T>G n.576T>G c.1178T>G (p.Val393Gly) c.749T>G (p.Val250Gly) c.1112T>G (p.Val371Gly) c.1160T>G (p.Val387Gly) c.911T>G (p.Val304Gly) | |
2 | g.219421497_219421498insCCACTACCCCCAG | CA2533862773 | DES | n.655_656insCCACTACCCCCAG n.569_570insCCACTACCCCCAG c.1181_1182insCCACTACCCCCAG (p.Lys395HisfsTer?) n.653_654insCCACTACCCCCAG n.576_577insCCACTACCCCCAG c.1178_1179insCCACTACCCCCAG (p.Lys394HisfsTer?) c.749_750insCCACTACCCCCAG (p.Lys251HisfsTer?) c.1112_1113insCCACTACCCCCAG (p.Lys372HisfsTer?) c.1160_1161insCCACTACCCCCAG (p.Lys388HisfsTer?) c.911_912insCCACTACCCCCAG (p.Lys305HisfsTer?) | |
2 | g.219421498G>A | CA431284471 | DES | n.656G>A n.570G>A c.1182G>A (p.Val394=) n.654G>A n.577G>A c.1179G>A (p.Val393=) c.750G>A (p.Val250=) c.1113G>A (p.Val371=) c.1161G>A (p.Val387=) c.912G>A (p.Val304=) | dbSNP |
2 | g.219421498G>C | CA431284472 | DES | n.656G>C n.570G>C c.1182G>C (p.Val394=) n.654G>C n.577G>C c.1179G>C (p.Val393=) c.750G>C (p.Val250=) c.1113G>C (p.Val371=) c.1161G>C (p.Val387=) c.912G>C (p.Val304=) | dbSNP |
2 | g.219421498G= | CA1329211324 | DES | n.656G= n.570G= c.1182G= (p.Val394=) n.654G= n.577G= c.1179G= (p.Val393=) c.750G= (p.Val250=) c.1113G= (p.Val371=) c.1161G= (p.Val387=) c.912G= (p.Val304=) | |
2 | g.219421498G>T | CA431284473 | DES | n.656G>T n.570G>T c.1182G>T (p.Val394=) n.654G>T n.577G>T c.1179G>T (p.Val393=) c.750G>T (p.Val250=) c.1113G>T (p.Val371=) c.1161G>T (p.Val387=) c.912G>T (p.Val304=) | |
2 | g.219421499A>C | CA350694854 | DES | n.657A>C n.571A>C c.1183A>C (p.Lys395Gln) n.655A>C n.578A>C c.1180A>C (p.Lys394Gln) c.751A>C (p.Lys251Gln) c.1114A>C (p.Lys372Gln) c.1162A>C (p.Lys388Gln) c.913A>C (p.Lys305Gln) | |
2 | g.219421499A>G | CA350694857 | DES | n.657A>G n.571A>G c.1183A>G (p.Lys395Glu) n.655A>G n.578A>G c.1180A>G (p.Lys394Glu) c.751A>G (p.Lys251Glu) c.1114A>G (p.Lys372Glu) c.1162A>G (p.Lys388Glu) c.913A>G (p.Lys305Glu) | |
2 | g.219421499A>T | CA350694852 | DES | n.657A>T n.571A>T c.1183A>T (p.Lys395Ter) n.655A>T n.578A>T c.1180A>T (p.Lys394Ter) c.751A>T (p.Lys251Ter) c.1114A>T (p.Lys372Ter) c.1162A>T (p.Lys388Ter) c.913A>T (p.Lys305Ter) | |
2 | g.219421499_219421500insCGCCGGGCGGG | CA2508951310 | DES | n.657_658insCGCCGGGCGGG n.571_572insCGCCGGGCGGG c.1183_1184insCGCCGGGCGGG (p.Lys395ThrfsTer?) n.655_656insCGCCGGGCGGG n.578_579insCGCCGGGCGGG c.1180_1181insCGCCGGGCGGG (p.Lys394ThrfsTer?) c.751_752insCGCCGGGCGGG (p.Lys251ThrfsTer?) c.1114_1115insCGCCGGGCGGG (p.Lys372ThrfsTer?) c.1162_1163insCGCCGGGCGGG (p.Lys388ThrfsTer?) c.913_914insCGCCGGGCGGG (p.Lys305ThrfsTer?) | |
2 | g.219421500A>C | CA350694861 | DES | n.658A>C n.572A>C c.1184A>C (p.Lys395Thr) n.656A>C n.579A>C c.1181A>C (p.Lys394Thr) c.752A>C (p.Lys251Thr) c.1115A>C (p.Lys372Thr) c.1163A>C (p.Lys388Thr) c.914A>C (p.Lys305Thr) | |
2 | g.219421500A>G | CA350694864 | DES | n.658A>G n.572A>G c.1184A>G (p.Lys395Arg) n.656A>G n.579A>G c.1181A>G (p.Lys394Arg) c.752A>G (p.Lys251Arg) c.1115A>G (p.Lys372Arg) c.1163A>G (p.Lys388Arg) c.914A>G (p.Lys305Arg) | |
2 | g.219421500A>T | CA350694865 | DES | n.658A>T n.572A>T c.1184A>T (p.Lys395Met) n.656A>T n.579A>T c.1181A>T (p.Lys394Met) c.752A>T (p.Lys251Met) c.1115A>T (p.Lys372Met) c.1163A>T (p.Lys388Met) c.914A>T (p.Lys305Met) | |
2 | g.219421501G>A | CA431284474 | DES | n.659G>A n.573G>A c.1185G>A (p.Lys395=) n.657G>A n.580G>A c.1182G>A (p.Lys394=) c.753G>A (p.Lys251=) c.1116G>A (p.Lys372=) c.1164G>A (p.Lys388=) c.915G>A (p.Lys305=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219421501G>C | CA350694866 | DES | n.659G>C n.573G>C c.1185G>C (p.Lys395Asn) n.657G>C n.580G>C c.1182G>C (p.Lys394Asn) c.753G>C (p.Lys251Asn) c.1116G>C (p.Lys372Asn) c.1164G>C (p.Lys388Asn) c.915G>C (p.Lys305Asn) | |
2 | g.219421501G= | CA1329211325 | DES | n.659G= n.573G= c.1185G= (p.Lys395=) n.657G= n.580G= c.1182G= (p.Lys394=) c.753G= (p.Lys251=) c.1116G= (p.Lys372=) c.1164G= (p.Lys388=) c.915G= (p.Lys305=) | |
2 | g.219421501G>T | CA350694868 | DES | n.659G>T n.573G>T c.1185G>T (p.Lys395Asn) n.657G>T n.580G>T c.1182G>T (p.Lys394Asn) c.753G>T (p.Lys251Asn) c.1116G>T (p.Lys372Asn) c.1164G>T (p.Lys388Asn) c.915G>T (p.Lys305Asn) | |
2 | g.219421501_219421502insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC | CA2551911571 | DES | n.659_660insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC n.573_574insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC c.1185_1186insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC (p.Lys395_Met396insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr) n.657_658insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC n.580_581insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC c.1182_1183insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC (p.Lys394_Met395insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr) c.753_754insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC (p.Lys251_Met252insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr) c.1116_1117insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC (p.Lys372_Met373insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr) c.1164_1165insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC (p.Lys388_Met389insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr) c.915_916insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC (p.Lys305_Met306insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr) | |
2 | g.219421501_219421502insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC | CA2564216217 | DES | n.659_660insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC n.573_574insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC c.1185_1186insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC (p.Lys395_Met396insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr) n.657_658insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC n.580_581insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC c.1182_1183insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC (p.Lys394_Met395insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr) c.753_754insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC (p.Lys251_Met252insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr) c.1116_1117insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC (p.Lys372_Met373insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr) c.1164_1165insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC (p.Lys388_Met389insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr) c.915_916insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC (p.Lys305_Met306insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr) | |
2 | g.219421502A= | CA1329211326 | DES | n.660A= n.574A= c.1186A= (p.Met396=) n.658A= n.581A= c.1183A= (p.Met395=) c.754A= (p.Met252=) c.1117A= (p.Met373=) c.1165A= (p.Met389=) c.916A= (p.Met306=) | |
2 | g.219421502A>C | CA350694877 | DES | n.660A>C n.574A>C c.1186A>C (p.Met396Leu) n.658A>C n.581A>C c.1183A>C (p.Met395Leu) c.754A>C (p.Met252Leu) c.1117A>C (p.Met373Leu) c.1165A>C (p.Met389Leu) c.916A>C (p.Met306Leu) | |
2 | g.219421502A>G | CA350694873 | DES | n.660A>G n.574A>G c.1186A>G (p.Met396Val) n.658A>G n.581A>G c.1183A>G (p.Met395Val) c.754A>G (p.Met252Val) c.1117A>G (p.Met373Val) c.1165A>G (p.Met389Val) c.916A>G (p.Met306Val) | dbSNP |
2 | g.219421502A>T | CA350694874 | DES | n.660A>T n.574A>T c.1186A>T (p.Met396Leu) n.658A>T n.581A>T c.1183A>T (p.Met395Leu) c.754A>T (p.Met252Leu) c.1117A>T (p.Met373Leu) c.1165A>T (p.Met389Leu) c.916A>T (p.Met306Leu) | |
2 | g.219421503T>A | CA350694882 | DES | n.661T>A n.575T>A c.1187T>A (p.Met396Lys) n.659T>A n.582T>A c.1184T>A (p.Met395Lys) c.755T>A (p.Met252Lys) c.1118T>A (p.Met373Lys) c.1166T>A (p.Met389Lys) c.917T>A (p.Met306Lys) | gnomAD v4 |
2 | g.219421503T>C | CA350694884 | DES | n.661T>C n.575T>C c.1187T>C (p.Met396Thr) n.659T>C n.582T>C c.1184T>C (p.Met395Thr) c.755T>C (p.Met252Thr) c.1118T>C (p.Met373Thr) c.1166T>C (p.Met389Thr) c.917T>C (p.Met306Thr) | ClinVar gnomAD v4 |
2 | g.219421503T>G | CA350694887 | DES | n.661T>G n.575T>G c.1187T>G (p.Met396Arg) n.659T>G n.582T>G c.1184T>G (p.Met395Arg) c.755T>G (p.Met252Arg) c.1118T>G (p.Met373Arg) c.1166T>G (p.Met389Arg) c.917T>G (p.Met306Arg) | |
2 | g.219421504G>A | CA350694890 | DES | n.662G>A n.576G>A c.1188G>A (p.Met396Ile) n.660G>A n.583G>A c.1185G>A (p.Met395Ile) c.756G>A (p.Met252Ile) c.1119G>A (p.Met373Ile) c.1167G>A (p.Met389Ile) c.918G>A (p.Met306Ile) | |
2 | g.219421504G>C | CA350694892 | DES | n.662G>C n.576G>C c.1188G>C (p.Met396Ile) n.660G>C n.583G>C c.1185G>C (p.Met395Ile) c.756G>C (p.Met252Ile) c.1119G>C (p.Met373Ile) c.1167G>C (p.Met389Ile) c.918G>C (p.Met306Ile) | |
2 | g.219421504G>T | CA350694895 | DES | n.662G>T n.576G>T c.1188G>T (p.Met396Ile) n.660G>T n.583G>T c.1185G>T (p.Met395Ile) c.756G>T (p.Met252Ile) c.1119G>T (p.Met373Ile) c.1167G>T (p.Met389Ile) c.918G>T (p.Met306Ile) | |
2 | g.219421505G>A | CA175623 | DES | n.663G>A n.577G>A c.1189G>A (p.Ala397Thr) n.661G>A n.584G>A c.1186G>A (p.Ala396Thr) c.757G>A (p.Ala253Thr) c.1120G>A (p.Ala374Thr) c.1168G>A (p.Ala390Thr) c.919G>A (p.Ala307Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219421505G>C | CA350694904 | DES | n.663G>C n.577G>C c.1189G>C (p.Ala397Pro) n.661G>C n.584G>C c.1186G>C (p.Ala396Pro) c.757G>C (p.Ala253Pro) c.1120G>C (p.Ala374Pro) c.1168G>C (p.Ala390Pro) c.919G>C (p.Ala307Pro) | |
2 | g.219421505G= | CA1329211327 | DES | n.663G= n.577G= c.1189G= (p.Ala397=) n.661G= n.584G= c.1186G= (p.Ala396=) c.757G= (p.Ala253=) c.1120G= (p.Ala374=) c.1168G= (p.Ala390=) c.919G= (p.Ala307=) | |
2 | g.219421505G>T | CA350694898 | DES | n.663G>T n.577G>T c.1189G>T (p.Ala397Ser) n.661G>T n.584G>T c.1186G>T (p.Ala396Ser) c.757G>T (p.Ala253Ser) c.1120G>T (p.Ala374Ser) c.1168G>T (p.Ala390Ser) c.919G>T (p.Ala307Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219421508_219421525del | CA2586971384 | DES | n.666_683del n.580_597del c.1192_1209del (p.Leu398_Ala403del) n.664_681del n.587_604del c.1189_1206del (p.Leu397_Ala402del) c.760_777del (p.Leu254_Ala259del) c.1123_1140del (p.Leu375_Ala380del) c.1171_1188del (p.Leu391_Ala396del) c.922_939del (p.Leu308_Ala313del) | |
2 | g.219421506C>A | CA350694907 | DES | n.664C>A n.578C>A c.1190C>A (p.Ala397Asp) n.662C>A n.585C>A c.1187C>A (p.Ala396Asp) c.758C>A (p.Ala253Asp) c.1121C>A (p.Ala374Asp) c.1169C>A (p.Ala390Asp) c.920C>A (p.Ala307Asp) | |
2 | g.219421506C>G | CA350694910 | DES | n.664C>G n.578C>G c.1190C>G (p.Ala397Gly) n.662C>G n.585C>G c.1187C>G (p.Ala396Gly) c.758C>G (p.Ala253Gly) c.1121C>G (p.Ala374Gly) c.1169C>G (p.Ala390Gly) c.920C>G (p.Ala307Gly) | gnomAD v4 |
2 | g.219421506C>T | CA350694912 | DES | n.664C>T n.578C>T c.1190C>T (p.Ala397Val) n.662C>T n.585C>T c.1187C>T (p.Ala396Val) c.758C>T (p.Ala253Val) c.1121C>T (p.Ala374Val) c.1169C>T (p.Ala390Val) c.920C>T (p.Ala307Val) | |
2 | g.219421507C>A | CA431284475 | DES | n.665C>A n.579C>A c.1191C>A (p.Ala397=) n.663C>A n.586C>A c.1188C>A (p.Ala396=) c.759C>A (p.Ala253=) c.1122C>A (p.Ala374=) c.1170C>A (p.Ala390=) c.921C>A (p.Ala307=) | |
2 | g.219421507C= | CA1329211328 | DES | n.665C= n.579C= c.1191C= (p.Ala397=) n.663C= n.586C= c.1188C= (p.Ala396=) c.759C= (p.Ala253=) c.1122C= (p.Ala374=) c.1170C= (p.Ala390=) c.921C= (p.Ala307=) | |
2 | g.219421507C>G | CA431284476 | DES | n.665C>G n.579C>G c.1191C>G (p.Ala397=) n.663C>G n.586C>G c.1188C>G (p.Ala396=) c.759C>G (p.Ala253=) c.1122C>G (p.Ala374=) c.1170C>G (p.Ala390=) c.921C>G (p.Ala307=) | |
2 | g.219421507C>T | CA431284477 | DES | n.665C>T n.579C>T c.1191C>T (p.Ala397=) n.663C>T n.586C>T c.1188C>T (p.Ala396=) c.759C>T (p.Ala253=) c.1122C>T (p.Ala374=) c.1170C>T (p.Ala390=) c.921C>T (p.Ala307=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219421508C>A | CA350694914 | DES | n.666C>A n.580C>A c.1192C>A (p.Leu398Met) n.664C>A n.587C>A c.1189C>A (p.Leu397Met) c.760C>A (p.Leu254Met) c.1123C>A (p.Leu375Met) c.1171C>A (p.Leu391Met) c.922C>A (p.Leu308Met) | |
2 | g.219421508C= | CA1329211329 | DES | n.666C= n.580C= c.1192C= (p.Leu398=) n.664C= n.587C= c.1189C= (p.Leu397=) c.760C= (p.Leu254=) c.1123C= (p.Leu375=) c.1171C= (p.Leu391=) c.922C= (p.Leu308=) | |
2 | g.219421508C>G | CA350694916 | DES | n.666C>G n.580C>G c.1192C>G (p.Leu398Val) n.664C>G n.587C>G c.1189C>G (p.Leu397Val) c.760C>G (p.Leu254Val) c.1123C>G (p.Leu375Val) c.1171C>G (p.Leu391Val) c.922C>G (p.Leu308Val) | |
2 | g.219421508C>T | CA431284478 | DES | n.666C>T n.580C>T c.1192C>T (p.Leu398=) n.664C>T n.587C>T c.1189C>T (p.Leu397=) c.760C>T (p.Leu254=) c.1123C>T (p.Leu375=) c.1171C>T (p.Leu391=) c.922C>T (p.Leu308=) | dbSNP gnomAD v4 |
2 | g.219421509del | CA2573135389 | DES | n.667del n.581del c.1193del (p.Leu398ArgfsTer?) n.665del n.588del c.1190del (p.Leu397ArgfsTer?) c.761del (p.Leu254ArgfsTer?) c.1124del (p.Leu375ArgfsTer?) c.1172del (p.Leu391ArgfsTer?) c.923del (p.Leu308ArgfsTer?) | ClinVar dbSNP |
2 | g.219421509T>A | CA350694917 | DES | n.667T>A n.581T>A c.1193T>A (p.Leu398Gln) n.665T>A n.588T>A c.1190T>A (p.Leu397Gln) c.761T>A (p.Leu254Gln) c.1124T>A (p.Leu375Gln) c.1172T>A (p.Leu391Gln) c.923T>A (p.Leu308Gln) | |
2 | g.219421509T>C | CA65983670 | DES | n.667T>C n.581T>C c.1193T>C (p.Leu398Pro) n.665T>C n.588T>C c.1190T>C (p.Leu397Pro) c.761T>C (p.Leu254Pro) c.1124T>C (p.Leu375Pro) c.1172T>C (p.Leu391Pro) c.923T>C (p.Leu308Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219421509T>G | CA350694920 | DES | n.667T>G n.581T>G c.1193T>G (p.Leu398Arg) n.665T>G n.588T>G c.1190T>G (p.Leu397Arg) c.761T>G (p.Leu254Arg) c.1124T>G (p.Leu375Arg) c.1172T>G (p.Leu391Arg) c.923T>G (p.Leu308Arg) | |
2 | g.219421509T= | CA1329211330 | DES | n.667T= n.581T= c.1193T= (p.Leu398=) n.665T= n.588T= c.1190T= (p.Leu397=) c.761T= (p.Leu254=) c.1124T= (p.Leu375=) c.1172T= (p.Leu391=) c.923T= (p.Leu308=) | |
2 | g.219421510G>A | CA431284479 | DES | n.668G>A n.582G>A c.1194G>A (p.Leu398=) n.666G>A n.589G>A c.1191G>A (p.Leu397=) c.762G>A (p.Leu254=) c.1125G>A (p.Leu375=) c.1173G>A (p.Leu391=) c.924G>A (p.Leu308=) | |
2 | g.219421510G>C | CA431284480 | DES | n.668G>C n.582G>C c.1194G>C (p.Leu398=) n.666G>C n.589G>C c.1191G>C (p.Leu397=) c.762G>C (p.Leu254=) c.1125G>C (p.Leu375=) c.1173G>C (p.Leu391=) c.924G>C (p.Leu308=) | |
2 | g.219421510G>T | CA431284481 | DES | n.668G>T n.582G>T c.1194G>T (p.Leu398=) n.666G>T n.589G>T c.1191G>T (p.Leu397=) c.762G>T (p.Leu254=) c.1125G>T (p.Leu375=) c.1173G>T (p.Leu391=) c.924G>T (p.Leu308=) | |
2 | g.219421511G>A | CA350694922 | DES | n.669G>A n.583G>A c.1195G>A (p.Asp399Asn) n.667G>A n.590G>A c.1192G>A (p.Asp398Asn) c.763G>A (p.Asp255Asn) c.1126G>A (p.Asp376Asn) c.1174G>A (p.Asp392Asn) c.925G>A (p.Asp309Asn) | |
2 | g.219421511G>C | CA350694924 | DES | n.669G>C n.583G>C c.1195G>C (p.Asp399His) n.667G>C n.590G>C c.1192G>C (p.Asp398His) c.763G>C (p.Asp255His) c.1126G>C (p.Asp376His) c.1174G>C (p.Asp392His) c.925G>C (p.Asp309His) | |
2 | g.219421511G= | CA1329211331 | DES | n.669G= n.583G= c.1195G= (p.Asp399=) n.667G= n.590G= c.1192G= (p.Asp398=) c.763G= (p.Asp255=) c.1126G= (p.Asp376=) c.1174G= (p.Asp392=) c.925G= (p.Asp309=) | |
2 | g.219421511G>T | CA217032 | DES | n.669G>T n.583G>T c.1195G>T (p.Asp399Tyr) n.667G>T n.590G>T c.1192G>T (p.Asp398Tyr) c.763G>T (p.Asp255Tyr) c.1126G>T (p.Asp376Tyr) c.1174G>T (p.Asp392Tyr) c.925G>T (p.Asp309Tyr) | ClinVar dbSNP |
2 | g.219421512A>C | CA350694927 | DES | n.670A>C n.584A>C c.1196A>C (p.Asp399Ala) n.668A>C n.591A>C c.1193A>C (p.Asp398Ala) c.764A>C (p.Asp255Ala) c.1127A>C (p.Asp376Ala) c.1175A>C (p.Asp392Ala) c.926A>C (p.Asp309Ala) | |
2 | g.219421512A>G | CA350694929 | DES | n.670A>G n.584A>G c.1196A>G (p.Asp399Gly) n.668A>G n.591A>G c.1193A>G (p.Asp398Gly) c.764A>G (p.Asp255Gly) c.1127A>G (p.Asp376Gly) c.1175A>G (p.Asp392Gly) c.926A>G (p.Asp309Gly) | COSMIC |
2 | g.219421512A>T | CA350694931 | DES | n.670A>T n.584A>T c.1196A>T (p.Asp399Val) n.668A>T n.591A>T c.1193A>T (p.Asp398Val) c.764A>T (p.Asp255Val) c.1127A>T (p.Asp376Val) c.1175A>T (p.Asp392Val) c.926A>T (p.Asp309Val) | |
2 | g.219421513T>A | CA350694934 | DES | n.671T>A n.585T>A c.1197T>A (p.Asp399Glu) n.669T>A n.592T>A c.1194T>A (p.Asp398Glu) c.765T>A (p.Asp255Glu) c.1128T>A (p.Asp376Glu) c.1176T>A (p.Asp392Glu) c.927T>A (p.Asp309Glu) | gnomAD v4 |
2 | g.219421513T>C | CA431284482 | DES | n.671T>C n.585T>C c.1197T>C (p.Asp399=) n.669T>C n.592T>C c.1194T>C (p.Asp398=) c.765T>C (p.Asp255=) c.1128T>C (p.Asp376=) c.1176T>C (p.Asp392=) c.927T>C (p.Asp309=) | dbSNP |
2 | g.219421513T>G | CA2125254 | DES | n.671T>G n.585T>G c.1197T>G (p.Asp399Glu) n.669T>G n.592T>G c.1194T>G (p.Asp398Glu) c.765T>G (p.Asp255Glu) c.1128T>G (p.Asp376Glu) c.1176T>G (p.Asp392Glu) c.927T>G (p.Asp309Glu) | dbSNP ExAC gnomAD v2 |
2 | g.219421513T= | CA1329211332 | DES | n.671T= n.585T= c.1197T= (p.Asp399=) n.669T= n.592T= c.1194T= (p.Asp398=) c.765T= (p.Asp255=) c.1128T= (p.Asp376=) c.1176T= (p.Asp392=) c.927T= (p.Asp309=) | |
2 | g.219421514G>A | CA350694937 | DES | n.672G>A n.586G>A c.1198G>A (p.Val400Met) n.670G>A n.593G>A c.1195G>A (p.Val399Met) c.766G>A (p.Val256Met) c.1129G>A (p.Val377Met) c.1177G>A (p.Val393Met) c.928G>A (p.Val310Met) | gnomAD v4 |
2 | g.219421514G>C | CA350694939 | DES | n.672G>C n.586G>C c.1198G>C (p.Val400Leu) n.670G>C n.593G>C c.1195G>C (p.Val399Leu) c.766G>C (p.Val256Leu) c.1129G>C (p.Val377Leu) c.1177G>C (p.Val393Leu) c.928G>C (p.Val310Leu) | |
2 | g.219421514G>T | CA350694940 | DES | n.672G>T n.586G>T c.1198G>T (p.Val400Leu) n.670G>T n.593G>T c.1195G>T (p.Val399Leu) c.766G>T (p.Val256Leu) c.1129G>T (p.Val377Leu) c.1177G>T (p.Val393Leu) c.928G>T (p.Val310Leu) | |
2 | g.219421515T>A | CA350694943 | DES | n.673T>A n.587T>A c.1199T>A (p.Val400Glu) n.671T>A n.594T>A c.1196T>A (p.Val399Glu) c.767T>A (p.Val256Glu) c.1130T>A (p.Val377Glu) c.1178T>A (p.Val393Glu) c.929T>A (p.Val310Glu) | |
2 | g.219421515T>C | CA350694945 | DES | n.673T>C n.587T>C c.1199T>C (p.Val400Ala) n.671T>C n.594T>C c.1196T>C (p.Val399Ala) c.767T>C (p.Val256Ala) c.1130T>C (p.Val377Ala) c.1178T>C (p.Val393Ala) c.929T>C (p.Val310Ala) | |
2 | g.219421515T>G | CA350694947 | DES | n.673T>G n.587T>G c.1199T>G (p.Val400Gly) n.671T>G n.594T>G c.1196T>G (p.Val399Gly) c.767T>G (p.Val256Gly) c.1130T>G (p.Val377Gly) c.1178T>G (p.Val393Gly) c.929T>G (p.Val310Gly) | |
2 | g.219421516G>A | CA431284485 | DES | n.674G>A n.588G>A c.1200G>A (p.Val400=) n.672G>A n.595G>A c.1197G>A (p.Val399=) c.768G>A (p.Val256=) c.1131G>A (p.Val377=) c.1179G>A (p.Val393=) c.930G>A (p.Val310=) | COSMIC |
2 | g.219421516G>C | CA431284484 | DES | n.674G>C n.588G>C c.1200G>C (p.Val400=) n.672G>C n.595G>C c.1197G>C (p.Val399=) c.768G>C (p.Val256=) c.1131G>C (p.Val377=) c.1179G>C (p.Val393=) c.930G>C (p.Val310=) | |
2 | g.219421516G>T | CA431284483 | DES | n.674G>T n.588G>T c.1200G>T (p.Val400=) n.672G>T n.595G>T c.1197G>T (p.Val399=) c.768G>T (p.Val256=) c.1131G>T (p.Val377=) c.1179G>T (p.Val393=) c.930G>T (p.Val310=) | |
2 | g.219421517G>A | CA284671 | DES | n.675G>A n.589G>A c.1201G>A (p.Glu401Lys) n.673G>A n.596G>A c.1198G>A (p.Glu400Lys) c.769G>A (p.Glu257Lys) c.1132G>A (p.Glu378Lys) c.1180G>A (p.Glu394Lys) c.931G>A (p.Glu311Lys) | ClinVar dbSNP |
2 | g.219421517G>C | CA350694949 | DES | n.675G>C n.589G>C c.1201G>C (p.Glu401Gln) n.673G>C n.596G>C c.1198G>C (p.Glu400Gln) c.769G>C (p.Glu257Gln) c.1132G>C (p.Glu378Gln) c.1180G>C (p.Glu394Gln) c.931G>C (p.Glu311Gln) | |
2 | g.219421517G= | CA1329211333 | DES | n.675G= n.589G= c.1201G= (p.Glu401=) n.673G= n.596G= c.1198G= (p.Glu400=) c.769G= (p.Glu257=) c.1132G= (p.Glu378=) c.1180G= (p.Glu394=) c.931G= (p.Glu311=) | |
2 | g.219421517G>T | CA350694952 | DES | n.675G>T n.589G>T c.1201G>T (p.Glu401Ter) n.673G>T n.596G>T c.1198G>T (p.Glu400Ter) c.769G>T (p.Glu257Ter) c.1132G>T (p.Glu378Ter) c.1180G>T (p.Glu394Ter) c.931G>T (p.Glu311Ter) | |
2 | g.219421518A= | CA1329211334 | DES | n.676A= n.590A= c.1202A= (p.Glu401=) n.674A= n.597A= c.1199A= (p.Glu400=) c.770A= (p.Glu257=) c.1133A= (p.Glu378=) c.1181A= (p.Glu394=) c.932A= (p.Glu311=) | |
2 | g.219421518A>C | CA350694955 | DES | n.676A>C n.590A>C c.1202A>C (p.Glu401Ala) n.674A>C n.597A>C c.1199A>C (p.Glu400Ala) c.770A>C (p.Glu257Ala) c.1133A>C (p.Glu378Ala) c.1181A>C (p.Glu394Ala) c.932A>C (p.Glu311Ala) | |
2 | g.219421518A>G | CA350694957 | DES | n.676A>G n.590A>G c.1202A>G (p.Glu401Gly) n.674A>G n.597A>G c.1199A>G (p.Glu400Gly) c.770A>G (p.Glu257Gly) c.1133A>G (p.Glu378Gly) c.1181A>G (p.Glu394Gly) c.932A>G (p.Glu311Gly) | ClinVar dbSNP |
2 | g.219421518A>T | CA350694959 | DES | n.676A>T n.590A>T c.1202A>T (p.Glu401Val) n.674A>T n.597A>T c.1199A>T (p.Glu400Val) c.770A>T (p.Glu257Val) c.1133A>T (p.Glu378Val) c.1181A>T (p.Glu394Val) c.932A>T (p.Glu311Val) | |
2 | g.219421519G>A | CA431284486 | DES | n.677G>A n.591G>A c.1203G>A (p.Glu401=) n.675G>A n.598G>A c.1200G>A (p.Glu400=) c.771G>A (p.Glu257=) c.1134G>A (p.Glu378=) c.1182G>A (p.Glu394=) c.933G>A (p.Glu311=) | gnomAD v4 |
2 | g.219421519G>C | CA350694961 | DES | n.677G>C n.591G>C c.1203G>C (p.Glu401Asp) n.675G>C n.598G>C c.1200G>C (p.Glu400Asp) c.771G>C (p.Glu257Asp) c.1134G>C (p.Glu378Asp) c.1182G>C (p.Glu394Asp) c.933G>C (p.Glu311Asp) | ClinVar dbSNP |
2 | g.219421519G>T | CA350694963 | DES | n.677G>T n.591G>T c.1203G>T (p.Glu401Asp) n.675G>T n.598G>T c.1200G>T (p.Glu400Asp) c.771G>T (p.Glu257Asp) c.1134G>T (p.Glu378Asp) c.1182G>T (p.Glu394Asp) c.933G>T (p.Glu311Asp) | |
2 | g.219421520A>C | CA350694966 | DES | n.678A>C n.592A>C c.1204A>C (p.Ile402Leu) n.676A>C n.599A>C c.1201A>C (p.Ile401Leu) c.772A>C (p.Ile258Leu) c.1135A>C (p.Ile379Leu) c.1183A>C (p.Ile395Leu) c.934A>C (p.Ile312Leu) | |
2 | g.219421520A>G | CA350694969 | DES | n.678A>G n.592A>G c.1204A>G (p.Ile402Val) n.676A>G n.599A>G c.1201A>G (p.Ile401Val) c.772A>G (p.Ile258Val) c.1135A>G (p.Ile379Val) c.1183A>G (p.Ile395Val) c.934A>G (p.Ile312Val) | |
2 | g.219421520A>T | CA350694968 | DES | n.678A>T n.592A>T c.1204A>T (p.Ile402Phe) n.676A>T n.599A>T c.1201A>T (p.Ile401Phe) c.772A>T (p.Ile258Phe) c.1135A>T (p.Ile379Phe) c.1183A>T (p.Ile395Phe) c.934A>T (p.Ile312Phe) | ClinVar |
2 | g.219421521T>A | CA350694971 | DES | n.679T>A n.593T>A c.1205T>A (p.Ile402Asn) n.677T>A n.600T>A c.1202T>A (p.Ile401Asn) c.773T>A (p.Ile258Asn) c.1136T>A (p.Ile379Asn) c.1184T>A (p.Ile395Asn) c.935T>A (p.Ile312Asn) | |
2 | g.219421521T>C | CA308278 | DES | n.679T>C n.593T>C c.1205T>C (p.Ile402Thr) n.677T>C n.600T>C c.1202T>C (p.Ile401Thr) c.773T>C (p.Ile258Thr) c.1136T>C (p.Ile379Thr) c.1184T>C (p.Ile395Thr) c.935T>C (p.Ile312Thr) | ClinVar dbSNP |
2 | g.219421521T>G | CA350694974 | DES | n.679T>G n.593T>G c.1205T>G (p.Ile402Ser) n.677T>G n.600T>G c.1202T>G (p.Ile401Ser) c.773T>G (p.Ile258Ser) c.1136T>G (p.Ile379Ser) c.1184T>G (p.Ile395Ser) c.935T>G (p.Ile312Ser) | ClinVar dbSNP |
2 | g.219421521T= | CA1329211335 | DES | n.679T= n.593T= c.1205T= (p.Ile402=) n.677T= n.600T= c.1202T= (p.Ile401=) c.773T= (p.Ile258=) c.1136T= (p.Ile379=) c.1184T= (p.Ile395=) c.935T= (p.Ile312=) | |
2 | g.219421522T>A | CA431284487 | DES | n.680T>A n.594T>A c.1206T>A (p.Ile402=) n.678T>A n.601T>A c.1203T>A (p.Ile401=) c.774T>A (p.Ile258=) c.1137T>A (p.Ile379=) c.1185T>A (p.Ile395=) c.936T>A (p.Ile312=) | |
2 | g.219421522T>C | CA431284488 | DES | n.680T>C n.594T>C c.1206T>C (p.Ile402=) n.678T>C n.601T>C c.1203T>C (p.Ile401=) c.774T>C (p.Ile258=) c.1137T>C (p.Ile379=) c.1185T>C (p.Ile395=) c.936T>C (p.Ile312=) | |
2 | g.219421522T>G | CA350694976 | DES | n.680T>G n.594T>G c.1206T>G (p.Ile402Met) n.678T>G n.601T>G c.1203T>G (p.Ile401Met) c.774T>G (p.Ile258Met) c.1137T>G (p.Ile379Met) c.1185T>G (p.Ile395Met) c.936T>G (p.Ile312Met) | |
2 | g.219421523G>A | CA350694979 | DES | n.681G>A n.595G>A c.1207G>A (p.Ala403Thr) n.679G>A n.602G>A c.1204G>A (p.Ala402Thr) c.775G>A (p.Ala259Thr) c.1138G>A (p.Ala380Thr) c.1186G>A (p.Ala396Thr) c.937G>A (p.Ala313Thr) | |
2 | g.219421523G>C | CA350694980 | DES | n.681G>C n.595G>C c.1207G>C (p.Ala403Pro) n.679G>C n.602G>C c.1204G>C (p.Ala402Pro) c.775G>C (p.Ala259Pro) c.1138G>C (p.Ala380Pro) c.1186G>C (p.Ala396Pro) c.937G>C (p.Ala313Pro) | gnomAD v4 |
2 | g.219421523G>T | CA350694982 | DES | n.681G>T n.595G>T c.1207G>T (p.Ala403Ser) n.679G>T n.602G>T c.1204G>T (p.Ala402Ser) c.775G>T (p.Ala259Ser) c.1138G>T (p.Ala380Ser) c.1186G>T (p.Ala396Ser) c.937G>T (p.Ala313Ser) | gnomAD v4 |
2 | g.219421524C>A | CA350694984 | DES | n.682C>A n.596C>A c.1208C>A (p.Ala403Asp) n.680C>A n.603C>A c.1205C>A (p.Ala402Asp) c.776C>A (p.Ala259Asp) c.1139C>A (p.Ala380Asp) c.1187C>A (p.Ala396Asp) c.938C>A (p.Ala313Asp) | ClinVar |
2 | g.219421524C>G | CA350694987 | DES | n.682C>G n.596C>G c.1208C>G (p.Ala403Gly) n.680C>G n.603C>G c.1205C>G (p.Ala402Gly) c.776C>G (p.Ala259Gly) c.1139C>G (p.Ala380Gly) c.1187C>G (p.Ala396Gly) c.938C>G (p.Ala313Gly) | |
2 | g.219421524C>T | CA350694986 | DES | n.682C>T n.596C>T c.1208C>T (p.Ala403Val) n.680C>T n.603C>T c.1205C>T (p.Ala402Val) c.776C>T (p.Ala259Val) c.1139C>T (p.Ala380Val) c.1187C>T (p.Ala396Val) c.938C>T (p.Ala313Val) | gnomAD v4 |
2 | g.219421525C>A | CA431284489 | DES | n.683C>A n.597C>A c.1209C>A (p.Ala403=) n.681C>A n.604C>A c.1206C>A (p.Ala402=) c.777C>A (p.Ala259=) c.1140C>A (p.Ala380=) c.1188C>A (p.Ala396=) c.939C>A (p.Ala313=) | |
2 | g.219421525C= | CA1329211336 | DES | n.683C= n.597C= c.1209C= (p.Ala403=) n.681C= n.604C= c.1206C= (p.Ala402=) c.777C= (p.Ala259=) c.1140C= (p.Ala380=) c.1188C= (p.Ala396=) c.939C= (p.Ala313=) | |
2 | g.219421525C>G | CA431284490 | DES | n.683C>G n.597C>G c.1209C>G (p.Ala403=) n.681C>G n.604C>G c.1206C>G (p.Ala402=) c.777C>G (p.Ala259=) c.1140C>G (p.Ala380=) c.1188C>G (p.Ala396=) c.939C>G (p.Ala313=) | |
2 | g.219421525C>T | CA2125255 | DES | n.683C>T n.597C>T c.1209C>T (p.Ala403=) n.681C>T n.604C>T c.1206C>T (p.Ala402=) c.777C>T (p.Ala259=) c.1140C>T (p.Ala380=) c.1188C>T (p.Ala396=) c.939C>T (p.Ala313=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219421526A= | CA1329211337 | DES | n.684A= n.598A= c.1210A= (p.Thr404=) n.682A= n.605A= c.1207A= (p.Thr403=) c.778A= (p.Thr260=) c.1141A= (p.Thr381=) c.1189A= (p.Thr397=) c.940A= (p.Thr314=) | |
2 | g.219421526A>C | CA350694990 | DES | n.684A>C n.598A>C c.1210A>C (p.Thr404Pro) n.682A>C n.605A>C c.1207A>C (p.Thr403Pro) c.778A>C (p.Thr260Pro) c.1141A>C (p.Thr381Pro) c.1189A>C (p.Thr397Pro) c.940A>C (p.Thr314Pro) | |
2 | g.219421526A>G | CA350694992 | DES | n.684A>G n.598A>G c.1210A>G (p.Thr404Ala) n.682A>G n.605A>G c.1207A>G (p.Thr403Ala) c.778A>G (p.Thr260Ala) c.1141A>G (p.Thr381Ala) c.1189A>G (p.Thr397Ala) c.940A>G (p.Thr314Ala) | dbSNP gnomAD v4 |
2 | g.219421526A>T | CA350694994 | DES | n.684A>T n.598A>T c.1210A>T (p.Thr404Ser) n.682A>T n.605A>T c.1207A>T (p.Thr403Ser) c.778A>T (p.Thr260Ser) c.1141A>T (p.Thr381Ser) c.1189A>T (p.Thr397Ser) c.940A>T (p.Thr314Ser) | |
2 | g.219421527C>A | CA350694996 | DES | n.685C>A n.599C>A c.1211C>A (p.Thr404Asn) n.683C>A n.606C>A c.1208C>A (p.Thr403Asn) c.779C>A (p.Thr260Asn) c.1142C>A (p.Thr381Asn) c.1190C>A (p.Thr397Asn) c.941C>A (p.Thr314Asn) | |
2 | g.219421527C>G | CA350694998 | DES | n.685C>G n.599C>G c.1211C>G (p.Thr404Ser) n.683C>G n.606C>G c.1208C>G (p.Thr403Ser) c.779C>G (p.Thr260Ser) c.1142C>G (p.Thr381Ser) c.1190C>G (p.Thr397Ser) c.941C>G (p.Thr314Ser) | |
2 | g.219421527C>T | CA350694997 | DES | n.685C>T n.599C>T c.1211C>T (p.Thr404Ile) n.683C>T n.606C>T c.1208C>T (p.Thr403Ile) c.779C>T (p.Thr260Ile) c.1142C>T (p.Thr381Ile) c.1190C>T (p.Thr397Ile) c.941C>T (p.Thr314Ile) | |
2 | g.219421528C>A | CA431284491 | DES | n.686C>A n.600C>A c.1212C>A (p.Thr404=) n.684C>A n.607C>A c.1209C>A (p.Thr403=) c.780C>A (p.Thr260=) c.1143C>A (p.Thr381=) c.1191C>A (p.Thr397=) c.942C>A (p.Thr314=) | |
2 | g.219421528C>G | CA431284492 | DES | n.686C>G n.600C>G c.1212C>G (p.Thr404=) n.684C>G n.607C>G c.1209C>G (p.Thr403=) c.780C>G (p.Thr260=) c.1143C>G (p.Thr381=) c.1191C>G (p.Thr397=) c.942C>G (p.Thr314=) | |
2 | g.219421528C>T | CA431284493 | DES | n.686C>T n.600C>T c.1212C>T (p.Thr404=) n.684C>T n.607C>T c.1209C>T (p.Thr403=) c.780C>T (p.Thr260=) c.1143C>T (p.Thr381=) c.1191C>T (p.Thr397=) c.942C>T (p.Thr314=) | |
2 | g.219421528_219421529delinsCT | CA1329211338 | DES | n.686_687delinsCT n.600_601delinsCT c.1212_1213delinsCT (p.Thr404=) n.684_685delinsCT n.607_608delinsCT c.1209_1210delinsCT (p.Thr403=) c.780_781delinsCT (p.Thr260=) c.1143_1144delinsCT (p.Thr381=) c.1191_1192delinsCT (p.Thr397=) c.942_943delinsCT (p.Thr314=) | |
2 | g.219421529del | CA10605083 | DES | n.687del n.601del c.1213del (p.Tyr405ThrfsTer?) n.685del n.608del c.1210del (p.Tyr404ThrfsTer?) c.781del (p.Tyr261ThrfsTer?) c.1144del (p.Tyr382ThrfsTer?) c.1192del (p.Tyr398ThrfsTer?) c.943del (p.Tyr315ThrfsTer?) | ClinVar dbSNP |
2 | g.219421529T>A | CA350694999 | DES | n.687T>A n.601T>A c.1213T>A (p.Tyr405Asn) n.685T>A n.608T>A c.1210T>A (p.Tyr404Asn) c.781T>A (p.Tyr261Asn) c.1144T>A (p.Tyr382Asn) c.1192T>A (p.Tyr398Asn) c.943T>A (p.Tyr315Asn) | COSMIC |
2 | g.219421529T>C | CA350695000 | DES | n.687T>C n.601T>C c.1213T>C (p.Tyr405His) n.685T>C n.608T>C c.1210T>C (p.Tyr404His) c.781T>C (p.Tyr261His) c.1144T>C (p.Tyr382His) c.1192T>C (p.Tyr398His) c.943T>C (p.Tyr315His) | ClinVar |
2 | g.219421529T>G | CA350695001 | DES | n.687T>G n.601T>G c.1213T>G (p.Tyr405Asp) n.685T>G n.608T>G c.1210T>G (p.Tyr404Asp) c.781T>G (p.Tyr261Asp) c.1144T>G (p.Tyr382Asp) c.1192T>G (p.Tyr398Asp) c.943T>G (p.Tyr315Asp) | |
2 | g.219421530A>C | CA350695004 | DES | n.688A>C n.602A>C c.1214A>C (p.Tyr405Ser) n.686A>C n.609A>C c.1211A>C (p.Tyr404Ser) c.782A>C (p.Tyr261Ser) c.1145A>C (p.Tyr382Ser) c.1193A>C (p.Tyr398Ser) c.944A>C (p.Tyr315Ser) | ClinVar dbSNP |
2 | g.219421530A>G | CA350695006 | DES | n.688A>G n.602A>G c.1214A>G (p.Tyr405Cys) n.686A>G n.609A>G c.1211A>G (p.Tyr404Cys) c.782A>G (p.Tyr261Cys) c.1145A>G (p.Tyr382Cys) c.1193A>G (p.Tyr398Cys) c.944A>G (p.Tyr315Cys) | |
2 | g.219421530A>T | CA350695008 | DES | n.688A>T n.602A>T c.1214A>T (p.Tyr405Phe) n.686A>T n.609A>T c.1211A>T (p.Tyr404Phe) c.782A>T (p.Tyr261Phe) c.1145A>T (p.Tyr382Phe) c.1193A>T (p.Tyr398Phe) c.944A>T (p.Tyr315Phe) | |
2 | g.219421531C>A | CA350695010 | DES | n.689C>A n.603C>A c.1215C>A (p.Tyr405Ter) n.687C>A n.610C>A c.1212C>A (p.Tyr404Ter) c.783C>A (p.Tyr261Ter) c.1146C>A (p.Tyr382Ter) c.1194C>A (p.Tyr398Ter) c.945C>A (p.Tyr315Ter) | |
2 | g.219421531C= | CA1329211339 | DES | n.689C= n.603C= c.1215C= (p.Tyr405=) n.687C= n.610C= c.1212C= (p.Tyr404=) c.783C= (p.Tyr261=) c.1146C= (p.Tyr382=) c.1194C= (p.Tyr398=) c.945C= (p.Tyr315=) | |
2 | g.219421531C>G | CA350695011 | DES | n.689C>G n.603C>G c.1215C>G (p.Tyr405Ter) n.687C>G n.610C>G c.1212C>G (p.Tyr404Ter) c.783C>G (p.Tyr261Ter) c.1146C>G (p.Tyr382Ter) c.1194C>G (p.Tyr398Ter) c.945C>G (p.Tyr315Ter) | |
2 | g.219421531C>T | CA431284494 | DES | n.689C>T n.603C>T c.1215C>T (p.Tyr405=) n.687C>T n.610C>T c.1212C>T (p.Tyr404=) c.783C>T (p.Tyr261=) c.1146C>T (p.Tyr382=) c.1194C>T (p.Tyr398=) c.945C>T (p.Tyr315=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219421532del | CA2833604746 | DES | n.690del n.604del c.1216del (p.Arg406GlyfsTer?) n.688del n.611del c.1213del (p.Arg405GlyfsTer?) c.784del (p.Arg262GlyfsTer?) c.1147del (p.Arg383GlyfsTer?) c.1195del (p.Arg399GlyfsTer?) c.946del (p.Arg316GlyfsTer?) | |
2 | g.219421532C>A | CA431284495 | DES | n.690C>A n.604C>A c.1216C>A (p.Arg406=) n.688C>A n.611C>A c.1213C>A (p.Arg405=) c.784C>A (p.Arg262=) c.1147C>A (p.Arg383=) c.1195C>A (p.Arg399=) c.946C>A (p.Arg316=) | gnomAD v4 |
2 | g.219421532C= | CA1329211340 | DES | n.690C= n.604C= c.1216C= (p.Arg406=) n.688C= n.611C= c.1213C= (p.Arg405=) c.784C= (p.Arg262=) c.1147C= (p.Arg383=) c.1195C= (p.Arg399=) c.946C= (p.Arg316=) | |
2 | g.219421532C>G | CA350695014 | DES | n.690C>G n.604C>G c.1216C>G (p.Arg406Gly) n.688C>G n.611C>G c.1213C>G (p.Arg405Gly) c.784C>G (p.Arg262Gly) c.1147C>G (p.Arg383Gly) c.1195C>G (p.Arg399Gly) c.946C>G (p.Arg316Gly) | |
2 | g.219421532C>T | CA257646 | DES | n.690C>T n.604C>T c.1216C>T (p.Arg406Trp) n.688C>T n.611C>T c.1213C>T (p.Arg405Trp) c.784C>T (p.Arg262Trp) c.1147C>T (p.Arg383Trp) c.1195C>T (p.Arg399Trp) c.946C>T (p.Arg316Trp) | ClinVar dbSNP |
2 | g.219421533G>A | CA16604146 | DES | n.691G>A n.605G>A c.1217G>A (p.Arg406Gln) n.689G>A n.612G>A c.1214G>A (p.Arg405Gln) c.785G>A (p.Arg262Gln) c.1148G>A (p.Arg383Gln) c.1196G>A (p.Arg399Gln) c.947G>A (p.Arg316Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219421533G>C | CA350695020 | DES | n.691G>C n.605G>C c.1217G>C (p.Arg406Pro) n.689G>C n.612G>C c.1214G>C (p.Arg405Pro) c.785G>C (p.Arg262Pro) c.1148G>C (p.Arg383Pro) c.1196G>C (p.Arg399Pro) c.947G>C (p.Arg316Pro) | ClinVar |
2 | g.219421533G= | CA1329211341 | DES | n.691G= n.605G= c.1217G= (p.Arg406=) n.689G= n.612G= c.1214G= (p.Arg405=) c.785G= (p.Arg262=) c.1148G= (p.Arg383=) c.1196G= (p.Arg399=) c.947G= (p.Arg316=) | |
2 | g.219421533G>T | CA350695018 | DES | n.691G>T n.605G>T c.1217G>T (p.Arg406Leu) n.689G>T n.612G>T c.1214G>T (p.Arg405Leu) c.785G>T (p.Arg262Leu) c.1148G>T (p.Arg383Leu) c.1196G>T (p.Arg399Leu) c.947G>T (p.Arg316Leu) | ClinVar dbSNP |
2 | g.219421534G>A | CA431284496 | DES | n.692G>A n.606G>A c.1218G>A (p.Arg406=) n.690G>A n.613G>A c.1215G>A (p.Arg405=) c.786G>A (p.Arg262=) c.1149G>A (p.Arg383=) c.1197G>A (p.Arg399=) c.948G>A (p.Arg316=) | |
2 | g.219421534G>C | CA431284497 | DES | n.692G>C n.606G>C c.1218G>C (p.Arg406=) n.690G>C n.613G>C c.1215G>C (p.Arg405=) c.786G>C (p.Arg262=) c.1149G>C (p.Arg383=) c.1197G>C (p.Arg399=) c.948G>C (p.Arg316=) | ClinVar |
2 | g.219421534G>T | CA431284498 | DES | n.692G>T n.606G>T c.1218G>T (p.Arg406=) n.690G>T n.613G>T c.1215G>T (p.Arg405=) c.786G>T (p.Arg262=) c.1149G>T (p.Arg383=) c.1197G>T (p.Arg399=) c.948G>T (p.Arg316=) | ClinVar |
2 | g.219421535A= | CA1329211342 | DES | n.693A= n.607A= c.1219A= (p.Lys407=) n.691A= n.614A= c.1216A= (p.Lys406=) c.787A= (p.Lys263=) c.1150A= (p.Lys384=) c.1198A= (p.Lys400=) c.949A= (p.Lys317=) | |
2 | g.219421535A>C | CA350695023 | DES | n.693A>C n.607A>C c.1219A>C (p.Lys407Gln) n.691A>C n.614A>C c.1216A>C (p.Lys406Gln) c.787A>C (p.Lys263Gln) c.1150A>C (p.Lys384Gln) c.1198A>C (p.Lys400Gln) c.949A>C (p.Lys317Gln) | ClinVar dbSNP gnomAD v4 |
2 | g.219421535A>G | CA350695027 | DES | n.693A>G n.607A>G c.1219A>G (p.Lys407Glu) n.691A>G n.614A>G c.1216A>G (p.Lys406Glu) c.787A>G (p.Lys263Glu) c.1150A>G (p.Lys384Glu) c.1198A>G (p.Lys400Glu) c.949A>G (p.Lys317Glu) | |
2 | g.219421535A>T | CA350695025 | DES | n.693A>T n.607A>T c.1219A>T (p.Lys407Ter) n.691A>T n.614A>T c.1216A>T (p.Lys406Ter) c.787A>T (p.Lys263Ter) c.1150A>T (p.Lys384Ter) c.1198A>T (p.Lys400Ter) c.949A>T (p.Lys317Ter) | |
2 | g.219421536A>C | CA350695029 | DES | n.694A>C n.608A>C c.1220A>C (p.Lys407Thr) n.692A>C n.615A>C c.1217A>C (p.Lys406Thr) c.788A>C (p.Lys263Thr) c.1151A>C (p.Lys384Thr) c.1199A>C (p.Lys400Thr) c.950A>C (p.Lys317Thr) | |
2 | g.219421536A>G | CA350695033 | DES | n.694A>G n.608A>G c.1220A>G (p.Lys407Arg) n.692A>G n.615A>G c.1217A>G (p.Lys406Arg) c.788A>G (p.Lys263Arg) c.1151A>G (p.Lys384Arg) c.1199A>G (p.Lys400Arg) c.950A>G (p.Lys317Arg) | |
2 | g.219421536A>T | CA350695031 | DES | n.694A>T n.608A>T c.1220A>T (p.Lys407Met) n.692A>T n.615A>T c.1217A>T (p.Lys406Met) c.788A>T (p.Lys263Met) c.1151A>T (p.Lys384Met) c.1199A>T (p.Lys400Met) c.950A>T (p.Lys317Met) | |
2 | g.219421537G>A | CA431284499 | DES | n.695G>A n.609G>A c.1221G>A (p.Lys407=) n.693G>A n.616G>A c.1218G>A (p.Lys406=) c.789G>A (p.Lys263=) c.1152G>A (p.Lys384=) c.1200G>A (p.Lys400=) c.951G>A (p.Lys317=) | |
2 | g.219421537G>C | CA350695036 | DES | n.695G>C n.609G>C c.1221G>C (p.Lys407Asn) n.693G>C n.616G>C c.1218G>C (p.Lys406Asn) c.789G>C (p.Lys263Asn) c.1152G>C (p.Lys384Asn) c.1200G>C (p.Lys400Asn) c.951G>C (p.Lys317Asn) | |
2 | g.219421537G>T | CA350695037 | DES | n.695G>T n.609G>T c.1221G>T (p.Lys407Asn) n.693G>T n.616G>T c.1218G>T (p.Lys406Asn) c.789G>T (p.Lys263Asn) c.1152G>T (p.Lys384Asn) c.1200G>T (p.Lys400Asn) c.951G>T (p.Lys317Asn) | |
2 | g.219421538C>A | CA350695039 | DES | n.696C>A n.610C>A c.1222C>A (p.Leu408Met) n.694C>A n.617C>A c.1219C>A (p.Leu407Met) c.790C>A (p.Leu264Met) c.1153C>A (p.Leu385Met) c.1201C>A (p.Leu401Met) c.952C>A (p.Leu318Met) | |
2 | g.219421538C>G | CA350695040 | DES | n.696C>G n.610C>G c.1222C>G (p.Leu408Val) n.694C>G n.617C>G c.1219C>G (p.Leu407Val) c.790C>G (p.Leu264Val) c.1153C>G (p.Leu385Val) c.1201C>G (p.Leu401Val) c.952C>G (p.Leu318Val) | |
2 | g.219421538C>T | CA431284500 | DES | n.696C>T n.610C>T c.1222C>T (p.Leu408=) n.694C>T n.617C>T c.1219C>T (p.Leu407=) c.790C>T (p.Leu264=) c.1153C>T (p.Leu385=) c.1201C>T (p.Leu401=) c.952C>T (p.Leu318=) | |
2 | g.219421538_219421539delinsCT | CA1329211343 | DES | n.696_697delinsCT n.610_611delinsCT c.1222_1223delinsCT (p.Leu408=) n.694_695delinsCT n.617_618delinsCT c.1219_1220delinsCT (p.Leu407=) c.790_791delinsCT (p.Leu264=) c.1153_1154delinsCT (p.Leu385=) c.1201_1202delinsCT (p.Leu401=) c.952_953delinsCT (p.Leu318=) | |
2 | g.219421539del | CA10602840 | DES | n.697del n.611del c.1223del (p.Leu408ArgfsTer?) n.695del n.618del c.1220del (p.Leu407ArgfsTer?) c.791del (p.Leu264ArgfsTer?) c.1154del (p.Leu385ArgfsTer?) c.1202del (p.Leu401ArgfsTer?) c.953del (p.Leu318ArgfsTer?) | ClinVar dbSNP |
2 | g.219421539T>A | CA350695043 | DES | n.697T>A n.611T>A c.1223T>A (p.Leu408Gln) n.695T>A n.618T>A c.1220T>A (p.Leu407Gln) c.791T>A (p.Leu264Gln) c.1154T>A (p.Leu385Gln) c.1202T>A (p.Leu401Gln) c.953T>A (p.Leu318Gln) | |
2 | g.219421539T>C | CA350695045 | DES | n.697T>C n.611T>C c.1223T>C (p.Leu408Pro) n.695T>C n.618T>C c.1220T>C (p.Leu407Pro) c.791T>C (p.Leu264Pro) c.1154T>C (p.Leu385Pro) c.1202T>C (p.Leu401Pro) c.953T>C (p.Leu318Pro) | |
2 | g.219421539T>G | CA350695047 | DES | n.697T>G n.611T>G c.1223T>G (p.Leu408Arg) n.695T>G n.618T>G c.1220T>G (p.Leu407Arg) c.791T>G (p.Leu264Arg) c.1154T>G (p.Leu385Arg) c.1202T>G (p.Leu401Arg) c.953T>G (p.Leu318Arg) | |
2 | g.219421540G>A | CA431284503 | DES | n.698G>A n.612G>A c.1224G>A (p.Leu408=) n.696G>A n.619G>A c.1221G>A (p.Leu407=) c.792G>A (p.Leu264=) c.1155G>A (p.Leu385=) c.1203G>A (p.Leu401=) c.954G>A (p.Leu318=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219421540G>C | CA431284501 | DES | n.698G>C n.612G>C c.1224G>C (p.Leu408=) n.696G>C n.619G>C c.1221G>C (p.Leu407=) c.792G>C (p.Leu264=) c.1155G>C (p.Leu385=) c.1203G>C (p.Leu401=) c.954G>C (p.Leu318=) | |
2 | g.219421540G= | CA1329211344 | DES | n.698G= n.612G= c.1224G= (p.Leu408=) n.696G= n.619G= c.1221G= (p.Leu407=) c.792G= (p.Leu264=) c.1155G= (p.Leu385=) c.1203G= (p.Leu401=) c.954G= (p.Leu318=) | |
2 | g.219421540G>T | CA431284502 | DES | n.698G>T n.612G>T c.1224G>T (p.Leu408=) n.696G>T n.619G>T c.1221G>T (p.Leu407=) c.792G>T (p.Leu264=) c.1155G>T (p.Leu385=) c.1203G>T (p.Leu401=) c.954G>T (p.Leu318=) | |
2 | g.219421541C>A | CA350695050 | DES | n.699C>A n.613C>A c.1225C>A (p.Leu409Met) n.697C>A n.620C>A c.1222C>A (p.Leu408Met) c.793C>A (p.Leu265Met) c.1156C>A (p.Leu386Met) c.1204C>A (p.Leu402Met) c.955C>A (p.Leu319Met) | |
2 | g.219421541C>G | CA350695052 | DES | n.699C>G n.613C>G c.1225C>G (p.Leu409Val) n.697C>G n.620C>G c.1222C>G (p.Leu408Val) c.793C>G (p.Leu265Val) c.1156C>G (p.Leu386Val) c.1204C>G (p.Leu402Val) c.955C>G (p.Leu319Val) | |
2 | g.219421541C>T | CA431284504 | DES | n.699C>T n.613C>T c.1225C>T (p.Leu409=) n.697C>T n.620C>T c.1222C>T (p.Leu408=) c.793C>T (p.Leu265=) c.1156C>T (p.Leu386=) c.1204C>T (p.Leu402=) c.955C>T (p.Leu319=) | |
2 | g.219421542T>A | CA350695054 | DES | n.700T>A n.614T>A c.1226T>A (p.Leu409Gln) n.698T>A n.621T>A c.1223T>A (p.Leu408Gln) c.794T>A (p.Leu265Gln) c.1157T>A (p.Leu386Gln) c.1205T>A (p.Leu402Gln) c.956T>A (p.Leu319Gln) | |
2 | g.219421542T>C | CA133817 | DES | n.700T>C n.614T>C c.1226T>C (p.Leu409Pro) n.698T>C n.621T>C c.1223T>C (p.Leu408Pro) c.794T>C (p.Leu265Pro) c.1157T>C (p.Leu386Pro) c.1205T>C (p.Leu402Pro) c.956T>C (p.Leu319Pro) | ClinVar dbSNP |
2 | g.219421542T>G | CA350695055 | DES | n.700T>G n.614T>G c.1226T>G (p.Leu409Arg) n.698T>G n.621T>G c.1223T>G (p.Leu408Arg) c.794T>G (p.Leu265Arg) c.1157T>G (p.Leu386Arg) c.1205T>G (p.Leu402Arg) c.956T>G (p.Leu319Arg) | |
2 | g.219421542T= | CA1329211345 | DES | n.700T= n.614T= c.1226T= (p.Leu409=) n.698T= n.621T= c.1223T= (p.Leu408=) c.794T= (p.Leu265=) c.1157T= (p.Leu386=) c.1205T= (p.Leu402=) c.956T= (p.Leu319=) | |
2 | g.219421543G>A | CA2125256 | DES | n.701G>A n.615G>A c.1227G>A (p.Leu409=) n.699G>A n.622G>A c.1224G>A (p.Leu408=) c.795G>A (p.Leu265=) c.1158G>A (p.Leu386=) c.1206G>A (p.Leu402=) c.957G>A (p.Leu319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219421543G>C | CA431284505 | DES | n.701G>C n.615G>C c.1227G>C (p.Leu409=) n.699G>C n.622G>C c.1224G>C (p.Leu408=) c.795G>C (p.Leu265=) c.1158G>C (p.Leu386=) c.1206G>C (p.Leu402=) c.957G>C (p.Leu319=) | |
2 | g.219421543G= | CA1329211346 | DES | n.701G= n.615G= c.1227G= (p.Leu409=) n.699G= n.622G= c.1224G= (p.Leu408=) c.795G= (p.Leu265=) c.1158G= (p.Leu386=) c.1206G= (p.Leu402=) c.957G= (p.Leu319=) | |
2 | g.219421543G>T | CA431284506 | DES | n.701G>T n.615G>T c.1227G>T (p.Leu409=) n.699G>T n.622G>T c.1224G>T (p.Leu408=) c.795G>T (p.Leu265=) c.1158G>T (p.Leu386=) c.1206G>T (p.Leu402=) c.957G>T (p.Leu319=) | ClinVar dbSNP gnomAD v4 |
2 | g.219421544G>A | CA350695060 | DES | n.702G>A n.616G>A c.1228G>A (p.Glu410Lys) n.700G>A n.623G>A c.1225G>A (p.Glu409Lys) c.796G>A (p.Glu266Lys) c.1159G>A (p.Glu387Lys) c.1207G>A (p.Glu403Lys) c.958G>A (p.Glu320Lys) | ClinVar dbSNP COSMIC |
2 | g.219421544G>C | CA350695062 | DES | n.702G>C n.616G>C c.1228G>C (p.Glu410Gln) n.700G>C n.623G>C c.1225G>C (p.Glu409Gln) c.796G>C (p.Glu266Gln) c.1159G>C (p.Glu387Gln) c.1207G>C (p.Glu403Gln) c.958G>C (p.Glu320Gln) | |
2 | g.219421544G>T | CA350695063 | DES | n.702G>T n.616G>T c.1228G>T (p.Glu410Ter) n.700G>T n.623G>T c.1225G>T (p.Glu409Ter) c.796G>T (p.Glu266Ter) c.1159G>T (p.Glu387Ter) c.1207G>T (p.Glu403Ter) c.958G>T (p.Glu320Ter) | |
2 | g.219421545A>C | CA350695066 | DES | n.703A>C n.617A>C c.1229A>C (p.Glu410Ala) n.701A>C n.624A>C c.1226A>C (p.Glu409Ala) c.797A>C (p.Glu266Ala) c.1160A>C (p.Glu387Ala) c.1208A>C (p.Glu403Ala) c.959A>C (p.Glu320Ala) | |
2 | g.219421545A>G | CA350695067 | DES | n.703A>G n.617A>G c.1229A>G (p.Glu410Gly) n.701A>G n.624A>G c.1226A>G (p.Glu409Gly) c.797A>G (p.Glu266Gly) c.1160A>G (p.Glu387Gly) c.1208A>G (p.Glu403Gly) c.959A>G (p.Glu320Gly) | |
2 | g.219421545A>T | CA350695069 | DES | n.703A>T n.617A>T c.1229A>T (p.Glu410Val) n.701A>T n.624A>T c.1226A>T (p.Glu409Val) c.797A>T (p.Glu266Val) c.1160A>T (p.Glu387Val) c.1208A>T (p.Glu403Val) c.959A>T (p.Glu320Val) | |
2 | g.219421546G>A | CA431284507 | DES | n.704G>A n.618G>A c.1230G>A (p.Glu410=) n.702G>A n.625G>A c.1227G>A (p.Glu409=) c.798G>A (p.Glu266=) c.1161G>A (p.Glu387=) c.1209G>A (p.Glu403=) c.960G>A (p.Glu320=) | dbSNP |
2 | g.219421546G>C | CA350695071 | DES | n.704G>C n.618G>C c.1230G>C (p.Glu410Asp) n.702G>C n.625G>C c.1227G>C (p.Glu409Asp) c.798G>C (p.Glu266Asp) c.1161G>C (p.Glu387Asp) c.1209G>C (p.Glu403Asp) c.960G>C (p.Glu320Asp) | |
2 | g.219421546G= | CA1329211347 | DES | n.704G= n.618G= c.1230G= (p.Glu410=) n.702G= n.625G= c.1227G= (p.Glu409=) c.798G= (p.Glu266=) c.1161G= (p.Glu387=) c.1209G= (p.Glu403=) c.960G= (p.Glu320=) | |
2 | g.219421546G>T | CA350695072 | DES | n.704G>T n.618G>T c.1230G>T (p.Glu410Asp) n.702G>T n.625G>T c.1227G>T (p.Glu409Asp) c.798G>T (p.Glu266Asp) c.1161G>T (p.Glu387Asp) c.1209G>T (p.Glu403Asp) c.960G>T (p.Glu320Asp) | |
2 | g.219421547_219421553del | CA2573051866 | DES | n.705_711del n.619_625del c.1231_1237del (p.Gly411ArgfsTer?) n.703_709del n.626_632del c.1228_1234del (p.Gly410ArgfsTer?) c.799_805del (p.Gly267ArgfsTer?) c.1162_1168del (p.Gly388ArgfsTer?) c.1210_1216del (p.Gly404ArgfsTer?) c.961_967del (p.Gly321ArgfsTer?) | dbSNP |
2 | g.219421547G>A | CA350695074 | DES | n.705G>A n.619G>A c.1231G>A (p.Gly411Arg) n.703G>A n.626G>A c.1228G>A (p.Gly410Arg) c.799G>A (p.Gly267Arg) c.1162G>A (p.Gly388Arg) c.1210G>A (p.Gly404Arg) c.961G>A (p.Gly321Arg) | |
2 | g.219421547G>C | CA350695075 | DES | n.705G>C n.619G>C c.1231G>C (p.Gly411Arg) n.703G>C n.626G>C c.1228G>C (p.Gly410Arg) c.799G>C (p.Gly267Arg) c.1162G>C (p.Gly388Arg) c.1210G>C (p.Gly404Arg) c.961G>C (p.Gly321Arg) | COSMIC |
2 | g.219421547G>T | CA350695076 | DES | n.705G>T n.619G>T c.1231G>T (p.Gly411Ter) n.703G>T n.626G>T c.1228G>T (p.Gly410Ter) c.799G>T (p.Gly267Ter) c.1162G>T (p.Gly388Ter) c.1210G>T (p.Gly404Ter) c.961G>T (p.Gly321Ter) | |
2 | g.219421548G>A | CA350695078 | DES | n.706G>A n.620G>A c.1232G>A (p.Gly411Glu) n.704G>A n.627G>A c.1229G>A (p.Gly410Glu) c.800G>A (p.Gly267Glu) c.1163G>A (p.Gly388Glu) c.1211G>A (p.Gly404Glu) c.962G>A (p.Gly321Glu) | gnomAD v4 |
2 | g.219421548G>C | CA350695079 | DES | n.706G>C n.620G>C c.1232G>C (p.Gly411Ala) n.704G>C n.627G>C c.1229G>C (p.Gly410Ala) c.800G>C (p.Gly267Ala) c.1163G>C (p.Gly388Ala) c.1211G>C (p.Gly404Ala) c.962G>C (p.Gly321Ala) | |
2 | g.219421548G>T | CA350695084 | DES | n.706G>T n.620G>T c.1232G>T (p.Gly411Val) n.704G>T n.627G>T c.1229G>T (p.Gly410Val) c.800G>T (p.Gly267Val) c.1163G>T (p.Gly388Val) c.1211G>T (p.Gly404Val) c.962G>T (p.Gly321Val) | |
2 | g.219421549A= | CA1329211348 | DES | n.707A= n.621A= c.1233A= (p.Gly411=) n.705A= n.628A= c.1230A= (p.Gly410=) c.801A= (p.Gly267=) c.1164A= (p.Gly388=) c.1212A= (p.Gly404=) c.963A= (p.Gly321=) | |
2 | g.219421549A>C | CA431284510 | DES | n.707A>C n.621A>C c.1233A>C (p.Gly411=) n.705A>C n.628A>C c.1230A>C (p.Gly410=) c.801A>C (p.Gly267=) c.1164A>C (p.Gly388=) c.1212A>C (p.Gly404=) c.963A>C (p.Gly321=) | dbSNP |
2 | g.219421549A>G | CA431284509 | DES | n.707A>G n.621A>G c.1233A>G (p.Gly411=) n.705A>G n.628A>G c.1230A>G (p.Gly410=) c.801A>G (p.Gly267=) c.1164A>G (p.Gly388=) c.1212A>G (p.Gly404=) c.963A>G (p.Gly321=) | |
2 | g.219421549A>T | CA431284508 | DES | n.707A>T n.621A>T c.1233A>T (p.Gly411=) n.705A>T n.628A>T c.1230A>T (p.Gly410=) c.801A>T (p.Gly267=) c.1164A>T (p.Gly388=) c.1212A>T (p.Gly404=) c.963A>T (p.Gly321=) | |
2 | g.219421549_219421552delinsAGAG | CA1329211349 | DES | n.707_710delinsAGAG n.621_624delinsAGAG c.1233_1236delinsAGAG (p.Gly411=) n.705_708delinsAGAG n.628_631delinsAGAG c.1230_1233delinsAGAG (p.Gly410=) c.801_804delinsAGAG (p.Gly267=) c.1164_1167delinsAGAG (p.Gly388=) c.1212_1215delinsAGAG (p.Gly404=) c.963_966delinsAGAG (p.Gly321=) | |
2 | g.219421550G>A | CA352006 | DES | n.708G>A n.622G>A c.1234G>A (p.Glu412Lys) n.706G>A n.629G>A c.1231G>A (p.Glu411Lys) c.802G>A (p.Glu268Lys) c.1165G>A (p.Glu389Lys) c.1213G>A (p.Glu405Lys) c.964G>A (p.Glu322Lys) | ClinVar dbSNP |
2 | g.219421550G>C | CA350695088 | DES | n.708G>C n.622G>C c.1234G>C (p.Glu412Gln) n.706G>C n.629G>C c.1231G>C (p.Glu411Gln) c.802G>C (p.Glu268Gln) c.1165G>C (p.Glu389Gln) c.1213G>C (p.Glu405Gln) c.964G>C (p.Glu322Gln) | |
2 | g.219421550G= | CA1329211350 | DES | n.708G= n.622G= c.1234G= (p.Glu412=) n.706G= n.629G= c.1231G= (p.Glu411=) c.802G= (p.Glu268=) c.1165G= (p.Glu389=) c.1213G= (p.Glu405=) c.964G= (p.Glu322=) | |
2 | g.219421550G>T | CA350695086 | DES | n.708G>T n.622G>T c.1234G>T (p.Glu412Ter) n.706G>T n.629G>T c.1231G>T (p.Glu411Ter) c.802G>T (p.Glu268Ter) c.1165G>T (p.Glu389Ter) c.1213G>T (p.Glu405Ter) c.964G>T (p.Glu322Ter) | |
2 | g.219421553_219421555del | CA1042514406 | DES | n.711_713del n.625_627del c.1237_1239del (p.Glu413del) n.709_711del n.632_634del c.1234_1236del (p.Glu412del) c.805_807del (p.Glu269del) c.1168_1170del (p.Glu390del) c.1216_1218del (p.Glu406del) c.967_969del (p.Glu323del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219421551A>C | CA350695090 | DES | n.709A>C n.623A>C c.1235A>C (p.Glu412Ala) n.707A>C n.630A>C c.1232A>C (p.Glu411Ala) c.803A>C (p.Glu268Ala) c.1166A>C (p.Glu389Ala) c.1214A>C (p.Glu405Ala) c.965A>C (p.Glu322Ala) | |
2 | g.219421551A>G | CA350695092 | DES | n.709A>G n.623A>G c.1235A>G (p.Glu412Gly) n.707A>G n.630A>G c.1232A>G (p.Glu411Gly) c.803A>G (p.Glu268Gly) c.1166A>G (p.Glu389Gly) c.1214A>G (p.Glu405Gly) c.965A>G (p.Glu322Gly) | |
2 | g.219421551A>T | CA350695094 | DES | n.709A>T n.623A>T c.1235A>T (p.Glu412Val) n.707A>T n.630A>T c.1232A>T (p.Glu411Val) c.803A>T (p.Glu268Val) c.1166A>T (p.Glu389Val) c.1214A>T (p.Glu405Val) c.965A>T (p.Glu322Val) |