| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173908360_173915405del | CA2573051419 | SERPINC1 | c.42-486_1154-846del c.42-486_560-867del c.-272-219_1010-846del c.42-486_1277-846del c.123-486_1235-846del c.42-486_1133-846del c.42-486_1097-846del c.42-486_938-846del | ClinVar |
| 1 | g.173909589A>C | CA421942809 | SERPINC1 | c.1116T>G (p.Leu372=) c.560-2096T>G (n.560-2096T>G) c.972T>G (p.Leu324=) c.1239T>G (p.Leu413=) c.1197T>G (p.Leu399=) c.1095T>G (p.Leu365=) c.1059T>G (p.Leu353=) c.900T>G (p.Leu300=) | |
| 1 | g.173909589A>G | CA421942810 | SERPINC1 | c.1116T>C (p.Leu372=) c.560-2096T>C (n.560-2096T>C) c.972T>C (p.Leu324=) c.1239T>C (p.Leu413=) c.1197T>C (p.Leu399=) c.1095T>C (p.Leu365=) c.1059T>C (p.Leu353=) c.900T>C (p.Leu300=) | gnomAD v4 |
| 1 | g.173909589A>T | CA421942811 | SERPINC1 | c.1116T>A (p.Leu372=) c.560-2096T>A (n.560-2096T>A) c.972T>A (p.Leu324=) c.1239T>A (p.Leu413=) c.1197T>A (p.Leu399=) c.1095T>A (p.Leu365=) c.1059T>A (p.Leu353=) c.900T>A (p.Leu300=) | |
| 1 | g.173909590A>C | CA343773538 | SERPINC1 | c.1115T>G (p.Leu372Arg) c.560-2097T>G (n.560-2097T>G) c.971T>G (p.Leu324Arg) c.1238T>G (p.Leu413Arg) c.1196T>G (p.Leu399Arg) c.1094T>G (p.Leu365Arg) c.1058T>G (p.Leu353Arg) c.899T>G (p.Leu300Arg) | |
| 1 | g.173909590A>G | CA343773539 | SERPINC1 | c.1115T>C (p.Leu372Pro) c.560-2097T>C (n.560-2097T>C) c.971T>C (p.Leu324Pro) c.1238T>C (p.Leu413Pro) c.1196T>C (p.Leu399Pro) c.1094T>C (p.Leu365Pro) c.1058T>C (p.Leu353Pro) c.899T>C (p.Leu300Pro) | |
| 1 | g.173909590A>T | CA343773540 | SERPINC1 | c.1115T>A (p.Leu372His) c.560-2097T>A (n.560-2097T>A) c.971T>A (p.Leu324His) c.1238T>A (p.Leu413His) c.1196T>A (p.Leu399His) c.1094T>A (p.Leu365His) c.1058T>A (p.Leu353His) c.899T>A (p.Leu300His) | |
| 1 | g.173909591G>A | CA343773541 | SERPINC1 | c.1114C>T (p.Leu372Phe) c.560-2098C>T (n.560-2098C>T) c.970C>T (p.Leu324Phe) c.1237C>T (p.Leu413Phe) c.1195C>T (p.Leu399Phe) c.1093C>T (p.Leu365Phe) c.1057C>T (p.Leu353Phe) c.898C>T (p.Leu300Phe) | |
| 1 | g.173909591G>C | CA343773542 | SERPINC1 | c.1114C>G (p.Leu372Val) c.560-2098C>G (n.560-2098C>G) c.970C>G (p.Leu324Val) c.1237C>G (p.Leu413Val) c.1195C>G (p.Leu399Val) c.1093C>G (p.Leu365Val) c.1057C>G (p.Leu353Val) c.898C>G (p.Leu300Val) | |
| 1 | g.173909591G>T | CA343773543 | SERPINC1 | c.1114C>A (p.Leu372Ile) c.560-2098C>A (n.560-2098C>A) c.970C>A (p.Leu324Ile) c.1237C>A (p.Leu413Ile) c.1195C>A (p.Leu399Ile) c.1093C>A (p.Leu365Ile) c.1057C>A (p.Leu353Ile) c.898C>A (p.Leu300Ile) | |
| 1 | g.173909592G>A | CA421942815 | SERPINC1 | c.1113C>T (p.Gly371=) c.560-2099C>T (n.560-2099C>T) c.969C>T (p.Gly323=) c.1236C>T (p.Gly412=) c.1194C>T (p.Gly398=) c.1092C>T (p.Gly364=) c.1056C>T (p.Gly352=) c.897C>T (p.Gly299=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909592G>C | CA421942816 | SERPINC1 | c.1113C>G (p.Gly371=) c.560-2099C>G (n.560-2099C>G) c.969C>G (p.Gly323=) c.1236C>G (p.Gly412=) c.1194C>G (p.Gly398=) c.1092C>G (p.Gly364=) c.1056C>G (p.Gly352=) c.897C>G (p.Gly299=) | |
| 1 | g.173909592G= | CA1207936903 | SERPINC1 | c.1113C= (p.Gly371=) c.560-2099C= (n.560-2099C=) c.969C= (p.Gly323=) c.1236C= (p.Gly412=) c.1194C= (p.Gly398=) c.1092C= (p.Gly364=) c.1056C= (p.Gly352=) c.897C= (p.Gly299=) | |
| 1 | g.173909592G>T | CA421942817 | SERPINC1 | c.1113C>A (p.Gly371=) c.560-2099C>A (n.560-2099C>A) c.969C>A (p.Gly323=) c.1236C>A (p.Gly412=) c.1194C>A (p.Gly398=) c.1092C>A (p.Gly364=) c.1056C>A (p.Gly352=) c.897C>A (p.Gly299=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909593C>A | CA343773544 | SERPINC1 | c.1112G>T (p.Gly371Val) c.560-2100G>T (n.560-2100G>T) c.968G>T (p.Gly323Val) c.1235G>T (p.Gly412Val) c.1193G>T (p.Gly398Val) c.1091G>T (p.Gly364Val) c.1055G>T (p.Gly352Val) c.896G>T (p.Gly299Val) | |
| 1 | g.173909593C>G | CA343773546 | SERPINC1 | c.1112G>C (p.Gly371Ala) c.560-2100G>C (n.560-2100G>C) c.968G>C (p.Gly323Ala) c.1235G>C (p.Gly412Ala) c.1193G>C (p.Gly398Ala) c.1091G>C (p.Gly364Ala) c.1055G>C (p.Gly352Ala) c.896G>C (p.Gly299Ala) | |
| 1 | g.173909593C>T | CA343773545 | SERPINC1 | c.1112G>A (p.Gly371Asp) c.560-2100G>A (n.560-2100G>A) c.968G>A (p.Gly323Asp) c.1235G>A (p.Gly412Asp) c.1193G>A (p.Gly398Asp) c.1091G>A (p.Gly364Asp) c.1055G>A (p.Gly352Asp) c.896G>A (p.Gly299Asp) | |
| 1 | g.173909594C>A | CA343773547 | SERPINC1 | c.1111G>T (p.Gly371Cys) c.560-2101G>T (n.560-2101G>T) c.967G>T (p.Gly323Cys) c.1234G>T (p.Gly412Cys) c.1192G>T (p.Gly398Cys) c.1090G>T (p.Gly364Cys) c.1054G>T (p.Gly352Cys) c.895G>T (p.Gly299Cys) | |
| 1 | g.173909594C>G | CA343773548 | SERPINC1 | c.1111G>C (p.Gly371Arg) c.560-2101G>C (n.560-2101G>C) c.967G>C (p.Gly323Arg) c.1234G>C (p.Gly412Arg) c.1192G>C (p.Gly398Arg) c.1090G>C (p.Gly364Arg) c.1054G>C (p.Gly352Arg) c.895G>C (p.Gly299Arg) | |
| 1 | g.173909594C>T | CA343773549 | SERPINC1 | c.1111G>A (p.Gly371Ser) c.560-2101G>A (n.560-2101G>A) c.967G>A (p.Gly323Ser) c.1234G>A (p.Gly412Ser) c.1192G>A (p.Gly398Ser) c.1090G>A (p.Gly364Ser) c.1054G>A (p.Gly352Ser) c.895G>A (p.Gly299Ser) | |
| 1 | g.173909595C>A | CA343773550 | SERPINC1 | c.1110G>T (p.Met370Ile) c.560-2102G>T (n.560-2102G>T) c.966G>T (p.Met322Ile) c.1233G>T (p.Met411Ile) c.1191G>T (p.Met397Ile) c.1089G>T (p.Met363Ile) c.1053G>T (p.Met351Ile) c.894G>T (p.Met298Ile) | |
| 1 | g.173909595C>G | CA343773551 | SERPINC1 | c.1110G>C (p.Met370Ile) c.560-2102G>C (n.560-2102G>C) c.966G>C (p.Met322Ile) c.1233G>C (p.Met411Ile) c.1191G>C (p.Met397Ile) c.1089G>C (p.Met363Ile) c.1053G>C (p.Met351Ile) c.894G>C (p.Met298Ile) | |
| 1 | g.173909595C>T | CA343773552 | SERPINC1 | c.1110G>A (p.Met370Ile) c.560-2102G>A (n.560-2102G>A) c.966G>A (p.Met322Ile) c.1233G>A (p.Met411Ile) c.1191G>A (p.Met397Ile) c.1089G>A (p.Met363Ile) c.1053G>A (p.Met351Ile) c.894G>A (p.Met298Ile) | ClinVar |
| 1 | g.173909596A>C | CA343773553 | SERPINC1 | c.1109T>G (p.Met370Arg) c.560-2103T>G (n.560-2103T>G) c.965T>G (p.Met322Arg) c.1232T>G (p.Met411Arg) c.1190T>G (p.Met397Arg) c.1088T>G (p.Met363Arg) c.1052T>G (p.Met351Arg) c.893T>G (p.Met298Arg) | |
| 1 | g.173909596A>G | CA343773554 | SERPINC1 | c.1109T>C (p.Met370Thr) c.560-2103T>C (n.560-2103T>C) c.965T>C (p.Met322Thr) c.1232T>C (p.Met411Thr) c.1190T>C (p.Met397Thr) c.1088T>C (p.Met363Thr) c.1052T>C (p.Met351Thr) c.893T>C (p.Met298Thr) | ClinVar |
| 1 | g.173909596A>T | CA343773555 | SERPINC1 | c.1109T>A (p.Met370Lys) c.560-2103T>A (n.560-2103T>A) c.965T>A (p.Met322Lys) c.1232T>A (p.Met411Lys) c.1190T>A (p.Met397Lys) c.1088T>A (p.Met363Lys) c.1052T>A (p.Met351Lys) c.893T>A (p.Met298Lys) | |
| 1 | g.173909597T>A | CA343773557 | SERPINC1 | c.1108A>T (p.Met370Leu) c.560-2104A>T (n.560-2104A>T) c.964A>T (p.Met322Leu) c.1231A>T (p.Met411Leu) c.1189A>T (p.Met397Leu) c.1087A>T (p.Met363Leu) c.1051A>T (p.Met351Leu) c.892A>T (p.Met298Leu) | |
| 1 | g.173909597T>C | CA343773558 | SERPINC1 | c.1108A>G (p.Met370Val) c.560-2104A>G (n.560-2104A>G) c.964A>G (p.Met322Val) c.1231A>G (p.Met411Val) c.1189A>G (p.Met397Val) c.1087A>G (p.Met363Val) c.1051A>G (p.Met351Val) c.892A>G (p.Met298Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909597T>G | CA343773556 | SERPINC1 | c.1108A>C (p.Met370Leu) c.560-2104A>C (n.560-2104A>C) c.964A>C (p.Met322Leu) c.1231A>C (p.Met411Leu) c.1189A>C (p.Met397Leu) c.1087A>C (p.Met363Leu) c.1051A>C (p.Met351Leu) c.892A>C (p.Met298Leu) | |
| 1 | g.173909597T= | CA1207936904 | SERPINC1 | c.1108A= (p.Met370=) c.560-2104A= (n.560-2104A=) c.964A= (p.Met322=) c.1231A= (p.Met411=) c.1189A= (p.Met397=) c.1087A= (p.Met363=) c.1051A= (p.Met351=) c.892A= (p.Met298=) | |
| 1 | g.173909598G>A | CA421942820 | SERPINC1 | c.1107C>T (p.Asp369=) c.560-2105C>T (n.560-2105C>T) c.963C>T (p.Asp321=) c.1230C>T (p.Asp410=) c.1188C>T (p.Asp396=) c.1086C>T (p.Asp362=) c.1050C>T (p.Asp350=) c.891C>T (p.Asp297=) | |
| 1 | g.173909598G>C | CA343773559 | SERPINC1 | c.1107C>G (p.Asp369Glu) c.560-2105C>G (n.560-2105C>G) c.963C>G (p.Asp321Glu) c.1230C>G (p.Asp410Glu) c.1188C>G (p.Asp396Glu) c.1086C>G (p.Asp362Glu) c.1050C>G (p.Asp350Glu) c.891C>G (p.Asp297Glu) | |
| 1 | g.173909598G>T | CA343773560 | SERPINC1 | c.1107C>A (p.Asp369Glu) c.560-2105C>A (n.560-2105C>A) c.963C>A (p.Asp321Glu) c.1230C>A (p.Asp410Glu) c.1188C>A (p.Asp396Glu) c.1086C>A (p.Asp362Glu) c.1050C>A (p.Asp350Glu) c.891C>A (p.Asp297Glu) | COSMIC |
| 1 | g.173909599T>A | CA343773561 | SERPINC1 | c.1106A>T (p.Asp369Val) c.560-2106A>T (n.560-2106A>T) c.962A>T (p.Asp321Val) c.1229A>T (p.Asp410Val) c.1187A>T (p.Asp396Val) c.1085A>T (p.Asp362Val) c.1049A>T (p.Asp350Val) c.890A>T (p.Asp297Val) | |
| 1 | g.173909599T>C | CA343773562 | SERPINC1 | c.1106A>G (p.Asp369Gly) c.560-2106A>G (n.560-2106A>G) c.962A>G (p.Asp321Gly) c.1229A>G (p.Asp410Gly) c.1187A>G (p.Asp396Gly) c.1085A>G (p.Asp362Gly) c.1049A>G (p.Asp350Gly) c.890A>G (p.Asp297Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909599T>G | CA343773563 | SERPINC1 | c.1106A>C (p.Asp369Ala) c.560-2106A>C (n.560-2106A>C) c.962A>C (p.Asp321Ala) c.1229A>C (p.Asp410Ala) c.1187A>C (p.Asp396Ala) c.1085A>C (p.Asp362Ala) c.1049A>C (p.Asp350Ala) c.890A>C (p.Asp297Ala) | |
| 1 | g.173909599T= | CA1207936905 | SERPINC1 | c.1106A= (p.Asp369=) c.560-2106A= (n.560-2106A=) c.962A= (p.Asp321=) c.1229A= (p.Asp410=) c.1187A= (p.Asp396=) c.1085A= (p.Asp362=) c.1049A= (p.Asp350=) c.890A= (p.Asp297=) | |
| 1 | g.173909600C>A | CA343773564 | SERPINC1 | c.1105G>T (p.Asp369Tyr) c.560-2107G>T (n.560-2107G>T) c.961G>T (p.Asp321Tyr) c.1228G>T (p.Asp410Tyr) c.1186G>T (p.Asp396Tyr) c.1084G>T (p.Asp362Tyr) c.1048G>T (p.Asp350Tyr) c.889G>T (p.Asp297Tyr) | COSMIC |
| 1 | g.173909600C= | CA1207936906 | SERPINC1 | c.1105G= (p.Asp369=) c.560-2107G= (n.560-2107G=) c.961G= (p.Asp321=) c.1228G= (p.Asp410=) c.1186G= (p.Asp396=) c.1084G= (p.Asp362=) c.1048G= (p.Asp350=) c.889G= (p.Asp297=) | |
| 1 | g.173909600C>G | CA343773565 | SERPINC1 | c.1105G>C (p.Asp369His) c.560-2107G>C (n.560-2107G>C) c.961G>C (p.Asp321His) c.1228G>C (p.Asp410His) c.1186G>C (p.Asp396His) c.1084G>C (p.Asp362His) c.1048G>C (p.Asp350His) c.889G>C (p.Asp297His) | |
| 1 | g.173909600C>T | CA1251280 | SERPINC1 | c.1105G>A (p.Asp369Asn) c.560-2107G>A (n.560-2107G>A) c.961G>A (p.Asp321Asn) c.1228G>A (p.Asp410Asn) c.1186G>A (p.Asp396Asn) c.1084G>A (p.Asp362Asn) c.1048G>A (p.Asp350Asn) c.889G>A (p.Asp297Asn) | dbSNP ExAC gnomAD v2 |
| 1 | g.173909601T>A | CA343773566 | SERPINC1 | c.1104A>T (p.Gln368His) c.560-2108A>T (n.560-2108A>T) c.960A>T (p.Gln320His) c.1227A>T (p.Gln409His) c.1185A>T (p.Gln395His) c.1083A>T (p.Gln361His) c.1047A>T (p.Gln349His) c.888A>T (p.Gln296His) | |
| 1 | g.173909601T>C | CA421942822 | SERPINC1 | c.1104A>G (p.Gln368=) c.560-2108A>G (n.560-2108A>G) c.960A>G (p.Gln320=) c.1227A>G (p.Gln409=) c.1185A>G (p.Gln395=) c.1083A>G (p.Gln361=) c.1047A>G (p.Gln349=) c.888A>G (p.Gln296=) | |
| 1 | g.173909601T>G | CA343773567 | SERPINC1 | c.1104A>C (p.Gln368His) c.560-2108A>C (n.560-2108A>C) c.960A>C (p.Gln320His) c.1227A>C (p.Gln409His) c.1185A>C (p.Gln395His) c.1083A>C (p.Gln361His) c.1047A>C (p.Gln349His) c.888A>C (p.Gln296His) | |
| 1 | g.173909602T>A | CA343773568 | SERPINC1 | c.1103A>T (p.Gln368Leu) c.560-2109A>T (n.560-2109A>T) c.959A>T (p.Gln320Leu) c.1226A>T (p.Gln409Leu) c.1184A>T (p.Gln395Leu) c.1082A>T (p.Gln361Leu) c.1046A>T (p.Gln349Leu) c.887A>T (p.Gln296Leu) | |
| 1 | g.173909602T>C | CA343773569 | SERPINC1 | c.1103A>G (p.Gln368Arg) c.560-2109A>G (n.560-2109A>G) c.959A>G (p.Gln320Arg) c.1226A>G (p.Gln409Arg) c.1184A>G (p.Gln395Arg) c.1082A>G (p.Gln361Arg) c.1046A>G (p.Gln349Arg) c.887A>G (p.Gln296Arg) | |
| 1 | g.173909602T>G | CA343773570 | SERPINC1 | c.1103A>C (p.Gln368Pro) c.560-2109A>C (n.560-2109A>C) c.959A>C (p.Gln320Pro) c.1226A>C (p.Gln409Pro) c.1184A>C (p.Gln395Pro) c.1082A>C (p.Gln361Pro) c.1046A>C (p.Gln349Pro) c.887A>C (p.Gln296Pro) | |
| 1 | g.173909603del | CA2739292067 | SERPINC1 | c.1102del (p.Gln368LysfsTer?) c.560-2110del (n.560-2110del) c.958del (p.Gln320LysfsTer?) c.1225del (p.Gln409LysfsTer?) c.1183del (p.Gln395LysfsTer?) c.1081del (p.Gln361LysfsTer?) c.1045del (p.Gln349LysfsTer?) c.886del (p.Gln296LysfsTer?) | |
| 1 | g.173909603G>A | CA343773573 | SERPINC1 | c.1102C>T (p.Gln368Ter) c.560-2110C>T (n.560-2110C>T) c.958C>T (p.Gln320Ter) c.1225C>T (p.Gln409Ter) c.1183C>T (p.Gln395Ter) c.1081C>T (p.Gln361Ter) c.1045C>T (p.Gln349Ter) c.886C>T (p.Gln296Ter) | dbSNP |
| 1 | g.173909603G>C | CA343773572 | SERPINC1 | c.1102C>G (p.Gln368Glu) c.560-2110C>G (n.560-2110C>G) c.958C>G (p.Gln320Glu) c.1225C>G (p.Gln409Glu) c.1183C>G (p.Gln395Glu) c.1081C>G (p.Gln361Glu) c.1045C>G (p.Gln349Glu) c.886C>G (p.Gln296Glu) | gnomAD v4 |
| 1 | g.173909603G= | CA1207936907 | SERPINC1 | c.1102C= (p.Gln368=) c.560-2110C= (n.560-2110C=) c.958C= (p.Gln320=) c.1225C= (p.Gln409=) c.1183C= (p.Gln395=) c.1081C= (p.Gln361=) c.1045C= (p.Gln349=) c.886C= (p.Gln296=) | |
| 1 | g.173909603G>T | CA343773571 | SERPINC1 | c.1102C>A (p.Gln368Lys) c.560-2110C>A (n.560-2110C>A) c.958C>A (p.Gln320Lys) c.1225C>A (p.Gln409Lys) c.1183C>A (p.Gln395Lys) c.1081C>A (p.Gln361Lys) c.1045C>A (p.Gln349Lys) c.886C>A (p.Gln296Lys) | |
| 1 | g.173909604C>A | CA421942825 | SERPINC1 | c.1101G>T (p.Leu367=) c.560-2111G>T (n.560-2111G>T) c.957G>T (p.Leu319=) c.1224G>T (p.Leu408=) c.1182G>T (p.Leu394=) c.1080G>T (p.Leu360=) c.1044G>T (p.Leu348=) c.885G>T (p.Leu295=) | |
| 1 | g.173909604C= | CA1207936908 | SERPINC1 | c.1101G= (p.Leu367=) c.560-2111G= (n.560-2111G=) c.957G= (p.Leu319=) c.1224G= (p.Leu408=) c.1182G= (p.Leu394=) c.1080G= (p.Leu360=) c.1044G= (p.Leu348=) c.885G= (p.Leu295=) | |
| 1 | g.173909604C>G | CA421942826 | SERPINC1 | c.1101G>C (p.Leu367=) c.560-2111G>C (n.560-2111G>C) c.957G>C (p.Leu319=) c.1224G>C (p.Leu408=) c.1182G>C (p.Leu394=) c.1080G>C (p.Leu360=) c.1044G>C (p.Leu348=) c.885G>C (p.Leu295=) | dbSNP |
| 1 | g.173909604C>T | CA421942827 | SERPINC1 | c.1101G>A (p.Leu367=) c.560-2111G>A (n.560-2111G>A) c.957G>A (p.Leu319=) c.1224G>A (p.Leu408=) c.1182G>A (p.Leu394=) c.1080G>A (p.Leu360=) c.1044G>A (p.Leu348=) c.885G>A (p.Leu295=) | |
| 1 | g.173909605A>C | CA343773574 | SERPINC1 | c.1100T>G (p.Leu367Arg) c.560-2112T>G (n.560-2112T>G) c.956T>G (p.Leu319Arg) c.1223T>G (p.Leu408Arg) c.1181T>G (p.Leu394Arg) c.1079T>G (p.Leu360Arg) c.1043T>G (p.Leu348Arg) c.884T>G (p.Leu295Arg) | |
| 1 | g.173909605A>G | CA343773575 | SERPINC1 | c.1100T>C (p.Leu367Pro) c.560-2112T>C (n.560-2112T>C) c.956T>C (p.Leu319Pro) c.1223T>C (p.Leu408Pro) c.1181T>C (p.Leu394Pro) c.1079T>C (p.Leu360Pro) c.1043T>C (p.Leu348Pro) c.884T>C (p.Leu295Pro) | |
| 1 | g.173909605A>T | CA343773576 | SERPINC1 | c.1100T>A (p.Leu367Gln) c.560-2112T>A (n.560-2112T>A) c.956T>A (p.Leu319Gln) c.1223T>A (p.Leu408Gln) c.1181T>A (p.Leu394Gln) c.1079T>A (p.Leu360Gln) c.1043T>A (p.Leu348Gln) c.884T>A (p.Leu295Gln) | |
| 1 | g.173909606G>A | CA421942828 | SERPINC1 | c.1099C>T (p.Leu367=) c.560-2113C>T (n.560-2113C>T) c.955C>T (p.Leu319=) c.1222C>T (p.Leu408=) c.1180C>T (p.Leu394=) c.1078C>T (p.Leu360=) c.1042C>T (p.Leu348=) c.883C>T (p.Leu295=) | |
| 1 | g.173909606G>C | CA343773577 | SERPINC1 | c.1099C>G (p.Leu367Val) c.560-2113C>G (n.560-2113C>G) c.955C>G (p.Leu319Val) c.1222C>G (p.Leu408Val) c.1180C>G (p.Leu394Val) c.1078C>G (p.Leu360Val) c.1042C>G (p.Leu348Val) c.883C>G (p.Leu295Val) | ClinVar dbSNP |
| 1 | g.173909606G= | CA1207936909 | SERPINC1 | c.1099C= (p.Leu367=) c.560-2113C= (n.560-2113C=) c.955C= (p.Leu319=) c.1222C= (p.Leu408=) c.1180C= (p.Leu394=) c.1078C= (p.Leu360=) c.1042C= (p.Leu348=) c.883C= (p.Leu295=) | |
| 1 | g.173909606G>T | CA343773578 | SERPINC1 | c.1099C>A (p.Leu367Met) c.560-2113C>A (n.560-2113C>A) c.955C>A (p.Leu319Met) c.1222C>A (p.Leu408Met) c.1180C>A (p.Leu394Met) c.1078C>A (p.Leu360Met) c.1042C>A (p.Leu348Met) c.883C>A (p.Leu295Met) | |
| 1 | g.173909607C>A | CA343773579 | SERPINC1 | c.1098G>T (p.Gln366His) c.560-2114G>T (n.560-2114G>T) c.954G>T (p.Gln318His) c.1221G>T (p.Gln407His) c.1179G>T (p.Gln393His) c.1077G>T (p.Gln359His) c.1041G>T (p.Gln347His) c.882G>T (p.Gln294His) | gnomAD v4 COSMIC |
| 1 | g.173909607C>G | CA343773580 | SERPINC1 | c.1098G>C (p.Gln366His) c.560-2114G>C (n.560-2114G>C) c.954G>C (p.Gln318His) c.1221G>C (p.Gln407His) c.1179G>C (p.Gln393His) c.1077G>C (p.Gln359His) c.1041G>C (p.Gln347His) c.882G>C (p.Gln294His) | |
| 1 | g.173909607C>T | CA421942829 | SERPINC1 | c.1098G>A (p.Gln366=) c.560-2114G>A (n.560-2114G>A) c.954G>A (p.Gln318=) c.1221G>A (p.Gln407=) c.1179G>A (p.Gln393=) c.1077G>A (p.Gln359=) c.1041G>A (p.Gln347=) c.882G>A (p.Gln294=) | |
| 1 | g.173909608T>A | CA343773581 | SERPINC1 | c.1097A>T (p.Gln366Leu) c.560-2115A>T (n.560-2115A>T) c.953A>T (p.Gln318Leu) c.1220A>T (p.Gln407Leu) c.1178A>T (p.Gln393Leu) c.1076A>T (p.Gln359Leu) c.1040A>T (p.Gln347Leu) c.881A>T (p.Gln294Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909608T>C | CA343773582 | SERPINC1 | c.1097A>G (p.Gln366Arg) c.560-2115A>G (n.560-2115A>G) c.953A>G (p.Gln318Arg) c.1220A>G (p.Gln407Arg) c.1178A>G (p.Gln393Arg) c.1076A>G (p.Gln359Arg) c.1040A>G (p.Gln347Arg) c.881A>G (p.Gln294Arg) | |
| 1 | g.173909608T>G | CA343773583 | SERPINC1 | c.1097A>C (p.Gln366Pro) c.560-2115A>C (n.560-2115A>C) c.953A>C (p.Gln318Pro) c.1220A>C (p.Gln407Pro) c.1178A>C (p.Gln393Pro) c.1076A>C (p.Gln359Pro) c.1040A>C (p.Gln347Pro) c.881A>C (p.Gln294Pro) | |
| 1 | g.173909608T= | CA1207936910 | SERPINC1 | c.1097A= (p.Gln366=) c.560-2115A= (n.560-2115A=) c.953A= (p.Gln318=) c.1220A= (p.Gln407=) c.1178A= (p.Gln393=) c.1076A= (p.Gln359=) c.1040A= (p.Gln347=) c.881A= (p.Gln294=) | |
| 1 | g.173909609G>A | CA343773584 | SERPINC1 | c.1096C>T (p.Gln366Ter) c.560-2116C>T (n.560-2116C>T) c.952C>T (p.Gln318Ter) c.1219C>T (p.Gln407Ter) c.1177C>T (p.Gln393Ter) c.1075C>T (p.Gln359Ter) c.1039C>T (p.Gln347Ter) c.880C>T (p.Gln294Ter) | |
| 1 | g.173909609G>C | CA1251281 | SERPINC1 | c.1096C>G (p.Gln366Glu) c.560-2116C>G (n.560-2116C>G) c.952C>G (p.Gln318Glu) c.1219C>G (p.Gln407Glu) c.1177C>G (p.Gln393Glu) c.1075C>G (p.Gln359Glu) c.1039C>G (p.Gln347Glu) c.880C>G (p.Gln294Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909609G= | CA1147118571 | SERPINC1 | c.1096C= (p.Gln366=) c.560-2116C= (n.560-2116C=) c.952C= (p.Gln318=) c.1219C= (p.Gln407=) c.1177C= (p.Gln393=) c.1075C= (p.Gln359=) c.1039C= (p.Gln347=) c.880C= (p.Gln294=) | |
| 1 | g.173909609G>T | CA343773585 | SERPINC1 | c.1096C>A (p.Gln366Lys) c.560-2116C>A (n.560-2116C>A) c.952C>A (p.Gln318Lys) c.1219C>A (p.Gln407Lys) c.1177C>A (p.Gln393Lys) c.1075C>A (p.Gln359Lys) c.1039C>A (p.Gln347Lys) c.880C>A (p.Gln294Lys) | COSMIC |
| 1 | g.173909610C>A | CA343773586 | SERPINC1 | c.1095G>T (p.Glu365Asp) c.560-2117G>T (n.560-2117G>T) c.951G>T (p.Glu317Asp) c.1218G>T (p.Glu406Asp) c.1176G>T (p.Glu392Asp) c.1074G>T (p.Glu358Asp) c.1038G>T (p.Glu346Asp) c.879G>T (p.Glu293Asp) | gnomAD v4 |
| 1 | g.173909610C>G | CA343773587 | SERPINC1 | c.1095G>C (p.Glu365Asp) c.560-2117G>C (n.560-2117G>C) c.951G>C (p.Glu317Asp) c.1218G>C (p.Glu406Asp) c.1176G>C (p.Glu392Asp) c.1074G>C (p.Glu358Asp) c.1038G>C (p.Glu346Asp) c.879G>C (p.Glu293Asp) | |
| 1 | g.173909610C>T | CA421942832 | SERPINC1 | c.1095G>A (p.Glu365=) c.560-2117G>A (n.560-2117G>A) c.951G>A (p.Glu317=) c.1218G>A (p.Glu406=) c.1176G>A (p.Glu392=) c.1074G>A (p.Glu358=) c.1038G>A (p.Glu346=) c.879G>A (p.Glu293=) | COSMIC |
| 1 | g.173909611T>A | CA343773588 | SERPINC1 | c.1094A>T (p.Glu365Val) c.560-2118A>T (n.560-2118A>T) c.950A>T (p.Glu317Val) c.1217A>T (p.Glu406Val) c.1175A>T (p.Glu392Val) c.1073A>T (p.Glu358Val) c.1037A>T (p.Glu346Val) c.878A>T (p.Glu293Val) | |
| 1 | g.173909611T>C | CA1251282 | SERPINC1 | c.1094A>G (p.Glu365Gly) c.560-2118A>G (n.560-2118A>G) c.950A>G (p.Glu317Gly) c.1217A>G (p.Glu406Gly) c.1175A>G (p.Glu392Gly) c.1073A>G (p.Glu358Gly) c.1037A>G (p.Glu346Gly) c.878A>G (p.Glu293Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909611T>G | CA343773589 | SERPINC1 | c.1094A>C (p.Glu365Ala) c.560-2118A>C (n.560-2118A>C) c.950A>C (p.Glu317Ala) c.1217A>C (p.Glu406Ala) c.1175A>C (p.Glu392Ala) c.1073A>C (p.Glu358Ala) c.1037A>C (p.Glu346Ala) c.878A>C (p.Glu293Ala) | |
| 1 | g.173909611T= | CA1207936911 | SERPINC1 | c.1094A= (p.Glu365=) c.560-2118A= (n.560-2118A=) c.950A= (p.Glu317=) c.1217A= (p.Glu406=) c.1175A= (p.Glu392=) c.1073A= (p.Glu358=) c.1037A= (p.Glu346=) c.878A= (p.Glu293=) | |
| 1 | g.173909612C>A | CA343773590 | SERPINC1 | c.1093G>T (p.Glu365Ter) c.560-2119G>T (n.560-2119G>T) c.949G>T (p.Glu317Ter) c.1216G>T (p.Glu406Ter) c.1174G>T (p.Glu392Ter) c.1072G>T (p.Glu358Ter) c.1036G>T (p.Glu346Ter) c.877G>T (p.Glu293Ter) | |
| 1 | g.173909612C>G | CA343773591 | SERPINC1 | c.1093G>C (p.Glu365Gln) c.560-2119G>C (n.560-2119G>C) c.949G>C (p.Glu317Gln) c.1216G>C (p.Glu406Gln) c.1174G>C (p.Glu392Gln) c.1072G>C (p.Glu358Gln) c.1036G>C (p.Glu346Gln) c.877G>C (p.Glu293Gln) | gnomAD v4 |
| 1 | g.173909612C>T | CA343773592 | SERPINC1 | c.1093G>A (p.Glu365Lys) c.560-2119G>A (n.560-2119G>A) c.949G>A (p.Glu317Lys) c.1216G>A (p.Glu406Lys) c.1174G>A (p.Glu392Lys) c.1072G>A (p.Glu358Lys) c.1036G>A (p.Glu346Lys) c.877G>A (p.Glu293Lys) | |
| 1 | g.173909613C>A | CA343773593 | SERPINC1 | c.1092G>T (p.Lys364Asn) c.560-2120G>T (n.560-2120G>T) c.948G>T (p.Lys316Asn) c.1215G>T (p.Lys405Asn) c.1173G>T (p.Lys391Asn) c.1071G>T (p.Lys357Asn) c.1035G>T (p.Lys345Asn) c.876G>T (p.Lys292Asn) | |
| 1 | g.173909613C>G | CA343773594 | SERPINC1 | c.1092G>C (p.Lys364Asn) c.560-2120G>C (n.560-2120G>C) c.948G>C (p.Lys316Asn) c.1215G>C (p.Lys405Asn) c.1173G>C (p.Lys391Asn) c.1071G>C (p.Lys357Asn) c.1035G>C (p.Lys345Asn) c.876G>C (p.Lys292Asn) | |
| 1 | g.173909613C>T | CA421942837 | SERPINC1 | c.1092G>A (p.Lys364=) c.560-2120G>A (n.560-2120G>A) c.948G>A (p.Lys316=) c.1215G>A (p.Lys405=) c.1173G>A (p.Lys391=) c.1071G>A (p.Lys357=) c.1035G>A (p.Lys345=) c.876G>A (p.Lys292=) | |
| 1 | g.173909614T>A | CA343773595 | SERPINC1 | c.1091A>T (p.Lys364Met) c.560-2121A>T (n.560-2121A>T) c.947A>T (p.Lys316Met) c.1214A>T (p.Lys405Met) c.1172A>T (p.Lys391Met) c.1070A>T (p.Lys357Met) c.1034A>T (p.Lys345Met) c.875A>T (p.Lys292Met) | |
| 1 | g.173909614T>C | CA343773596 | SERPINC1 | c.1091A>G (p.Lys364Arg) c.560-2121A>G (n.560-2121A>G) c.947A>G (p.Lys316Arg) c.1214A>G (p.Lys405Arg) c.1172A>G (p.Lys391Arg) c.1070A>G (p.Lys357Arg) c.1034A>G (p.Lys345Arg) c.875A>G (p.Lys292Arg) | |
| 1 | g.173909614T>G | CA343773597 | SERPINC1 | c.1091A>C (p.Lys364Thr) c.560-2121A>C (n.560-2121A>C) c.947A>C (p.Lys316Thr) c.1214A>C (p.Lys405Thr) c.1172A>C (p.Lys391Thr) c.1070A>C (p.Lys357Thr) c.1034A>C (p.Lys345Thr) c.875A>C (p.Lys292Thr) | |
| 1 | g.173909615T>A | CA343773598 | SERPINC1 | c.1090A>T (p.Lys364Ter) c.560-2122A>T (n.560-2122A>T) c.946A>T (p.Lys316Ter) c.1213A>T (p.Lys405Ter) c.1171A>T (p.Lys391Ter) c.1069A>T (p.Lys357Ter) c.1033A>T (p.Lys345Ter) c.874A>T (p.Lys292Ter) | |
| 1 | g.173909615T>C | CA343773599 | SERPINC1 | c.1090A>G (p.Lys364Glu) c.560-2122A>G (n.560-2122A>G) c.946A>G (p.Lys316Glu) c.1213A>G (p.Lys405Glu) c.1171A>G (p.Lys391Glu) c.1069A>G (p.Lys357Glu) c.1033A>G (p.Lys345Glu) c.874A>G (p.Lys292Glu) | |
| 1 | g.173909615T>G | CA343773600 | SERPINC1 | c.1090A>C (p.Lys364Gln) c.560-2122A>C (n.560-2122A>C) c.946A>C (p.Lys316Gln) c.1213A>C (p.Lys405Gln) c.1171A>C (p.Lys391Gln) c.1069A>C (p.Lys357Gln) c.1033A>C (p.Lys345Gln) c.874A>C (p.Lys292Gln) | dbSNP |
| 1 | g.173909615T= | CA1207936912 | SERPINC1 | c.1090A= (p.Lys364=) c.560-2122A= (n.560-2122A=) c.946A= (p.Lys316=) c.1213A= (p.Lys405=) c.1171A= (p.Lys391=) c.1069A= (p.Lys357=) c.1033A= (p.Lys345=) c.874A= (p.Lys292=) | |
| 1 | g.173909616C>A | CA343773601 | SERPINC1 | c.1089G>T (p.Leu363Phe) c.560-2123G>T (n.560-2123G>T) c.945G>T (p.Leu315Phe) c.1212G>T (p.Leu404Phe) c.1170G>T (p.Leu390Phe) c.1068G>T (p.Leu356Phe) c.1032G>T (p.Leu344Phe) c.873G>T (p.Leu291Phe) | |
| 1 | g.173909616C>G | CA343773602 | SERPINC1 | c.1089G>C (p.Leu363Phe) c.560-2123G>C (n.560-2123G>C) c.945G>C (p.Leu315Phe) c.1212G>C (p.Leu404Phe) c.1170G>C (p.Leu390Phe) c.1068G>C (p.Leu356Phe) c.1032G>C (p.Leu344Phe) c.873G>C (p.Leu291Phe) | |
| 1 | g.173909616C>T | CA421942838 | SERPINC1 | c.1089G>A (p.Leu363=) c.560-2123G>A (n.560-2123G>A) c.945G>A (p.Leu315=) c.1212G>A (p.Leu404=) c.1170G>A (p.Leu390=) c.1068G>A (p.Leu356=) c.1032G>A (p.Leu344=) c.873G>A (p.Leu291=) | |
| 1 | g.173909617A>C | CA343773603 | SERPINC1 | c.1088T>G (p.Leu363Trp) c.560-2124T>G (n.560-2124T>G) c.944T>G (p.Leu315Trp) c.1211T>G (p.Leu404Trp) c.1169T>G (p.Leu390Trp) c.1067T>G (p.Leu356Trp) c.1031T>G (p.Leu344Trp) c.872T>G (p.Leu291Trp) | |
| 1 | g.173909617A>G | CA343773605 | SERPINC1 | c.1088T>C (p.Leu363Ser) c.560-2124T>C (n.560-2124T>C) c.944T>C (p.Leu315Ser) c.1211T>C (p.Leu404Ser) c.1169T>C (p.Leu390Ser) c.1067T>C (p.Leu356Ser) c.1031T>C (p.Leu344Ser) c.872T>C (p.Leu291Ser) | |
| 1 | g.173909617A>T | CA343773604 | SERPINC1 | c.1088T>A (p.Leu363Ter) c.560-2124T>A (n.560-2124T>A) c.944T>A (p.Leu315Ter) c.1211T>A (p.Leu404Ter) c.1169T>A (p.Leu390Ter) c.1067T>A (p.Leu356Ter) c.1031T>A (p.Leu344Ter) c.872T>A (p.Leu291Ter) | |
| 1 | g.173909618A= | CA1207936913 | SERPINC1 | c.1087T= (p.Leu363=) c.560-2125T= (n.560-2125T=) c.943T= (p.Leu315=) c.1210T= (p.Leu404=) c.1168T= (p.Leu390=) c.1066T= (p.Leu356=) c.1030T= (p.Leu344=) c.871T= (p.Leu291=) | |
| 1 | g.173909618A>C | CA343773606 | SERPINC1 | c.1087T>G (p.Leu363Val) c.560-2125T>G (n.560-2125T>G) c.943T>G (p.Leu315Val) c.1210T>G (p.Leu404Val) c.1168T>G (p.Leu390Val) c.1066T>G (p.Leu356Val) c.1030T>G (p.Leu344Val) c.871T>G (p.Leu291Val) | |
| 1 | g.173909618A>G | CA421942839 | SERPINC1 | c.1087T>C (p.Leu363=) c.560-2125T>C (n.560-2125T>C) c.943T>C (p.Leu315=) c.1210T>C (p.Leu404=) c.1168T>C (p.Leu390=) c.1066T>C (p.Leu356=) c.1030T>C (p.Leu344=) c.871T>C (p.Leu291=) | dbSNP |
| 1 | g.173909618A>T | CA343773607 | SERPINC1 | c.1087T>A (p.Leu363Met) c.560-2125T>A (n.560-2125T>A) c.943T>A (p.Leu315Met) c.1210T>A (p.Leu404Met) c.1168T>A (p.Leu390Met) c.1066T>A (p.Leu356Met) c.1030T>A (p.Leu344Met) c.871T>A (p.Leu291Met) | dbSNP |
| 1 | g.173909619A>C | CA343773608 | SERPINC1 | c.1086T>G (p.Ser362Arg) c.560-2126T>G (n.560-2126T>G) c.942T>G (p.Ser314Arg) c.1209T>G (p.Ser403Arg) c.1167T>G (p.Ser389Arg) c.1065T>G (p.Ser355Arg) c.1029T>G (p.Ser343Arg) c.870T>G (p.Ser290Arg) | |
| 1 | g.173909619A>G | CA421942840 | SERPINC1 | c.1086T>C (p.Ser362=) c.560-2126T>C (n.560-2126T>C) c.942T>C (p.Ser314=) c.1209T>C (p.Ser403=) c.1167T>C (p.Ser389=) c.1065T>C (p.Ser355=) c.1029T>C (p.Ser343=) c.870T>C (p.Ser290=) | |
| 1 | g.173909619A>T | CA343773609 | SERPINC1 | c.1086T>A (p.Ser362Arg) c.560-2126T>A (n.560-2126T>A) c.942T>A (p.Ser314Arg) c.1209T>A (p.Ser403Arg) c.1167T>A (p.Ser389Arg) c.1065T>A (p.Ser355Arg) c.1029T>A (p.Ser343Arg) c.870T>A (p.Ser290Arg) | |
| 1 | g.173909620C>A | CA1251283 | SERPINC1 | c.1085G>T (p.Ser362Ile) c.560-2127G>T (n.560-2127G>T) c.941G>T (p.Ser314Ile) c.1208G>T (p.Ser403Ile) c.1166G>T (p.Ser389Ile) c.1064G>T (p.Ser355Ile) c.1028G>T (p.Ser343Ile) c.869G>T (p.Ser290Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909620C= | CA1207936914 | SERPINC1 | c.1085G= (p.Ser362=) c.560-2127G= (n.560-2127G=) c.941G= (p.Ser314=) c.1208G= (p.Ser403=) c.1166G= (p.Ser389=) c.1064G= (p.Ser355=) c.1028G= (p.Ser343=) c.869G= (p.Ser290=) | |
| 1 | g.173909620C>G | CA343773610 | SERPINC1 | c.1085G>C (p.Ser362Thr) c.560-2127G>C (n.560-2127G>C) c.941G>C (p.Ser314Thr) c.1208G>C (p.Ser403Thr) c.1166G>C (p.Ser389Thr) c.1064G>C (p.Ser355Thr) c.1028G>C (p.Ser343Thr) c.869G>C (p.Ser290Thr) | |
| 1 | g.173909620C>T | CA343773611 | SERPINC1 | c.1085G>A (p.Ser362Asn) c.560-2127G>A (n.560-2127G>A) c.941G>A (p.Ser314Asn) c.1208G>A (p.Ser403Asn) c.1166G>A (p.Ser389Asn) c.1064G>A (p.Ser355Asn) c.1028G>A (p.Ser343Asn) c.869G>A (p.Ser290Asn) | gnomAD v4 |
| 1 | g.173909621T>A | CA343773612 | SERPINC1 | c.1084A>T (p.Ser362Cys) c.560-2128A>T (n.560-2128A>T) c.940A>T (p.Ser314Cys) c.1207A>T (p.Ser403Cys) c.1165A>T (p.Ser389Cys) c.1063A>T (p.Ser355Cys) c.1027A>T (p.Ser343Cys) c.868A>T (p.Ser290Cys) | |
| 1 | g.173909621T>C | CA343773613 | SERPINC1 | c.1084A>G (p.Ser362Gly) c.560-2128A>G (n.560-2128A>G) c.940A>G (p.Ser314Gly) c.1207A>G (p.Ser403Gly) c.1165A>G (p.Ser389Gly) c.1063A>G (p.Ser355Gly) c.1027A>G (p.Ser343Gly) c.868A>G (p.Ser290Gly) | |
| 1 | g.173909621T>G | CA343773614 | SERPINC1 | c.1084A>C (p.Ser362Arg) c.560-2128A>C (n.560-2128A>C) c.940A>C (p.Ser314Arg) c.1207A>C (p.Ser403Arg) c.1165A>C (p.Ser389Arg) c.1063A>C (p.Ser355Arg) c.1027A>C (p.Ser343Arg) c.868A>C (p.Ser290Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909621T= | CA1207936916 | SERPINC1 | c.1084A= (p.Ser362=) c.560-2128A= (n.560-2128A=) c.940A= (p.Ser314=) c.1207A= (p.Ser403=) c.1165A= (p.Ser389=) c.1063A= (p.Ser355=) c.1027A= (p.Ser343=) c.868A= (p.Ser290=) | |
| 1 | g.173909621_173909639delinsTGAAGCCGTCCTCAATGCG | CA1207936915 | SERPINC1 | c.1066_1084delinsCGCATTGAGGACGGCTTCA (p.Arg356=) c.560-2146_560-2128delinsCGCATTGAGGACGGCTTCA (n.560-2146_560-2128delinsCGCATTGAGGACGGCTTCA) c.922_940delinsCGCATTGAGGACGGCTTCA (p.Arg308=) c.1189_1207delinsCGCATTGAGGACGGCTTCA (p.Arg397=) c.1147_1165delinsCGCATTGAGGACGGCTTCA (p.Arg383=) c.1045_1063delinsCGCATTGAGGACGGCTTCA (p.Arg349=) c.1009_1027delinsCGCATTGAGGACGGCTTCA (p.Arg337=) c.850_868delinsCGCATTGAGGACGGCTTCA (p.Arg284=) | |
| 1 | g.173909622_173910322del | CA2573051420 | SERPINC1 | c.763-379_1084del c.559+1543_560-2128del (n.559+1543_560-2128del) c.619-379_940del c.885+310_1207del c.844-379_1165del c.742-379_1063del c.762+433_1027del c.547-379_868del | ClinVar dbSNP |
| 1 | g.173909622G>A | CA421942841 | SERPINC1 | c.1083C>T (p.Phe361=) c.560-2129C>T (n.560-2129C>T) c.939C>T (p.Phe313=) c.1206C>T (p.Phe402=) c.1164C>T (p.Phe388=) c.1062C>T (p.Phe354=) c.1026C>T (p.Phe342=) c.867C>T (p.Phe289=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909622G>C | CA343773616 | SERPINC1 | c.1083C>G (p.Phe361Leu) c.560-2129C>G (n.560-2129C>G) c.939C>G (p.Phe313Leu) c.1206C>G (p.Phe402Leu) c.1164C>G (p.Phe388Leu) c.1062C>G (p.Phe354Leu) c.1026C>G (p.Phe342Leu) c.867C>G (p.Phe289Leu) | |
| 1 | g.173909622G= | CA1207936917 | SERPINC1 | c.1083C= (p.Phe361=) c.560-2129C= (n.560-2129C=) c.939C= (p.Phe313=) c.1206C= (p.Phe402=) c.1164C= (p.Phe388=) c.1062C= (p.Phe354=) c.1026C= (p.Phe342=) c.867C= (p.Phe289=) | |
| 1 | g.173909622G>T | CA343773615 | SERPINC1 | c.1083C>A (p.Phe361Leu) c.560-2129C>A (n.560-2129C>A) c.939C>A (p.Phe313Leu) c.1206C>A (p.Phe402Leu) c.1164C>A (p.Phe388Leu) c.1062C>A (p.Phe354Leu) c.1026C>A (p.Phe342Leu) c.867C>A (p.Phe289Leu) | |
| 1 | g.173909622_173909644delinsGAAGCCGTCCTCAATGCGGAAGC | CA1143355583 | SERPINC1 | c.1061_1083delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg354=) c.560-2151_560-2129delinsGCTTCCGCATTGAGGACGGCTTC (n.560-2151_560-2129delinsGCTTCCGCATTGAGGACGGCTTC) c.917_939delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg306=) c.1184_1206delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg395=) c.1142_1164delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg381=) c.1040_1062delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg347=) c.1004_1026delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg335=) c.845_867delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg282=) | |
| 1 | g.173909627_173909644del | CA32780221 | SERPINC1 | c.1066_1083del (p.Arg356_Phe361del) c.560-2146_560-2129del (n.560-2146_560-2129del) c.922_939del (p.Arg308_Phe313del) c.1189_1206del (p.Arg397_Phe402del) c.1147_1164del (p.Arg383_Phe388del) c.1045_1062del (p.Arg349_Phe354del) c.1009_1026del (p.Arg337_Phe342del) c.850_867del (p.Arg284_Phe289del) | dbSNP |
| 1 | g.173909623A>C | CA343773617 | SERPINC1 | c.1082T>G (p.Phe361Cys) c.560-2130T>G (n.560-2130T>G) c.938T>G (p.Phe313Cys) c.1205T>G (p.Phe402Cys) c.1163T>G (p.Phe388Cys) c.1061T>G (p.Phe354Cys) c.1025T>G (p.Phe342Cys) c.866T>G (p.Phe289Cys) | |
| 1 | g.173909623A>G | CA343773618 | SERPINC1 | c.1082T>C (p.Phe361Ser) c.560-2130T>C (n.560-2130T>C) c.938T>C (p.Phe313Ser) c.1205T>C (p.Phe402Ser) c.1163T>C (p.Phe388Ser) c.1061T>C (p.Phe354Ser) c.1025T>C (p.Phe342Ser) c.866T>C (p.Phe289Ser) | |
| 1 | g.173909623A>T | CA343773619 | SERPINC1 | c.1082T>A (p.Phe361Tyr) c.560-2130T>A (n.560-2130T>A) c.938T>A (p.Phe313Tyr) c.1205T>A (p.Phe402Tyr) c.1163T>A (p.Phe388Tyr) c.1061T>A (p.Phe354Tyr) c.1025T>A (p.Phe342Tyr) c.866T>A (p.Phe289Tyr) | |
| 1 | g.173909624A>C | CA343773620 | SERPINC1 | c.1081T>G (p.Phe361Val) c.560-2131T>G (n.560-2131T>G) c.937T>G (p.Phe313Val) c.1204T>G (p.Phe402Val) c.1162T>G (p.Phe388Val) c.1060T>G (p.Phe354Val) c.1024T>G (p.Phe342Val) c.865T>G (p.Phe289Val) | |
| 1 | g.173909624A>G | CA343773621 | SERPINC1 | c.1081T>C (p.Phe361Leu) c.560-2131T>C (n.560-2131T>C) c.937T>C (p.Phe313Leu) c.1204T>C (p.Phe402Leu) c.1162T>C (p.Phe388Leu) c.1060T>C (p.Phe354Leu) c.1024T>C (p.Phe342Leu) c.865T>C (p.Phe289Leu) | gnomAD v4 |
| 1 | g.173909624A>T | CA343773622 | SERPINC1 | c.1081T>A (p.Phe361Ile) c.560-2131T>A (n.560-2131T>A) c.937T>A (p.Phe313Ile) c.1204T>A (p.Phe402Ile) c.1162T>A (p.Phe388Ile) c.1060T>A (p.Phe354Ile) c.1024T>A (p.Phe342Ile) c.865T>A (p.Phe289Ile) | |
| 1 | g.173909625G>A | CA421942845 | SERPINC1 | c.1080C>T (p.Gly360=) c.560-2132C>T (n.560-2132C>T) c.936C>T (p.Gly312=) c.1203C>T (p.Gly401=) c.1161C>T (p.Gly387=) c.1059C>T (p.Gly353=) c.1023C>T (p.Gly341=) c.864C>T (p.Gly288=) | gnomAD v4 |
| 1 | g.173909625G>C | CA421942846 | SERPINC1 | c.1080C>G (p.Gly360=) c.560-2132C>G (n.560-2132C>G) c.936C>G (p.Gly312=) c.1203C>G (p.Gly401=) c.1161C>G (p.Gly387=) c.1059C>G (p.Gly353=) c.1023C>G (p.Gly341=) c.864C>G (p.Gly288=) | |
| 1 | g.173909625G>T | CA421942847 | SERPINC1 | c.1080C>A (p.Gly360=) c.560-2132C>A (n.560-2132C>A) c.936C>A (p.Gly312=) c.1203C>A (p.Gly401=) c.1161C>A (p.Gly387=) c.1059C>A (p.Gly353=) c.1023C>A (p.Gly341=) c.864C>A (p.Gly288=) | |
| 1 | g.173909626C>A | CA343773623 | SERPINC1 | c.1079G>T (p.Gly360Val) c.560-2133G>T (n.560-2133G>T) c.935G>T (p.Gly312Val) c.1202G>T (p.Gly401Val) c.1160G>T (p.Gly387Val) c.1058G>T (p.Gly353Val) c.1022G>T (p.Gly341Val) c.863G>T (p.Gly288Val) | |
| 1 | g.173909626C= | CA1207936918 | SERPINC1 | c.1079G= (p.Gly360=) c.560-2133G= (n.560-2133G=) c.935G= (p.Gly312=) c.1202G= (p.Gly401=) c.1160G= (p.Gly387=) c.1058G= (p.Gly353=) c.1022G= (p.Gly341=) c.863G= (p.Gly288=) | |
| 1 | g.173909626C>G | CA343773624 | SERPINC1 | c.1079G>C (p.Gly360Ala) c.560-2133G>C (n.560-2133G>C) c.935G>C (p.Gly312Ala) c.1202G>C (p.Gly401Ala) c.1160G>C (p.Gly387Ala) c.1058G>C (p.Gly353Ala) c.1022G>C (p.Gly341Ala) c.863G>C (p.Gly288Ala) | |
| 1 | g.173909626C>T | CA343773625 | SERPINC1 | c.1079G>A (p.Gly360Asp) c.560-2133G>A (n.560-2133G>A) c.935G>A (p.Gly312Asp) c.1202G>A (p.Gly401Asp) c.1160G>A (p.Gly387Asp) c.1058G>A (p.Gly353Asp) c.1022G>A (p.Gly341Asp) c.863G>A (p.Gly288Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.173909627del | CA2580060334 | SERPINC1 | c.1079del (p.Gly360AlafsTer4) c.560-2133del (n.560-2133del) c.935del (p.Gly312AlafsTer4) c.1202del (p.Gly401AlafsTer4) c.1160del (p.Gly387AlafsTer4) c.1058del (p.Gly353AlafsTer4) c.1022del (p.Gly341AlafsTer4) c.863del (p.Gly288AlafsTer4) | |
| 1 | g.173909627C>A | CA343773626 | SERPINC1 | c.1078G>T (p.Gly360Cys) c.560-2134G>T (n.560-2134G>T) c.934G>T (p.Gly312Cys) c.1201G>T (p.Gly401Cys) c.1159G>T (p.Gly387Cys) c.1057G>T (p.Gly353Cys) c.1021G>T (p.Gly341Cys) c.862G>T (p.Gly288Cys) | |
| 1 | g.173909627C= | CA1207936919 | SERPINC1 | c.1078G= (p.Gly360=) c.560-2134G= (n.560-2134G=) c.934G= (p.Gly312=) c.1201G= (p.Gly401=) c.1159G= (p.Gly387=) c.1057G= (p.Gly353=) c.1021G= (p.Gly341=) c.862G= (p.Gly288=) | |
| 1 | g.173909627C>G | CA343773627 | SERPINC1 | c.1078G>C (p.Gly360Arg) c.560-2134G>C (n.560-2134G>C) c.934G>C (p.Gly312Arg) c.1201G>C (p.Gly401Arg) c.1159G>C (p.Gly387Arg) c.1057G>C (p.Gly353Arg) c.1021G>C (p.Gly341Arg) c.862G>C (p.Gly288Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909627C>T | CA1251284 | SERPINC1 | c.1078G>A (p.Gly360Ser) c.560-2134G>A (n.560-2134G>A) c.934G>A (p.Gly312Ser) c.1201G>A (p.Gly401Ser) c.1159G>A (p.Gly387Ser) c.1057G>A (p.Gly353Ser) c.1021G>A (p.Gly341Ser) c.862G>A (p.Gly288Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173909628G>A | CA1251285 | SERPINC1 | c.1077C>T (p.Asp359=) c.560-2135C>T (n.560-2135C>T) c.933C>T (p.Asp311=) c.1200C>T (p.Asp400=) c.1158C>T (p.Asp386=) c.1056C>T (p.Asp352=) c.1020C>T (p.Asp340=) c.861C>T (p.Asp287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173909628G>C | CA343773629 | SERPINC1 | c.1077C>G (p.Asp359Glu) c.560-2135C>G (n.560-2135C>G) c.933C>G (p.Asp311Glu) c.1200C>G (p.Asp400Glu) c.1158C>G (p.Asp386Glu) c.1056C>G (p.Asp352Glu) c.1020C>G (p.Asp340Glu) c.861C>G (p.Asp287Glu) | |
| 1 | g.173909628G= | CA1207936920 | SERPINC1 | c.1077C= (p.Asp359=) c.560-2135C= (n.560-2135C=) c.933C= (p.Asp311=) c.1200C= (p.Asp400=) c.1158C= (p.Asp386=) c.1056C= (p.Asp352=) c.1020C= (p.Asp340=) c.861C= (p.Asp287=) | |
| 1 | g.173909628G>T | CA343773628 | SERPINC1 | c.1077C>A (p.Asp359Glu) c.560-2135C>A (n.560-2135C>A) c.933C>A (p.Asp311Glu) c.1200C>A (p.Asp400Glu) c.1158C>A (p.Asp386Glu) c.1056C>A (p.Asp352Glu) c.1020C>A (p.Asp340Glu) c.861C>A (p.Asp287Glu) | |
| 1 | g.173909629T>A | CA343773630 | SERPINC1 | c.1076A>T (p.Asp359Val) c.560-2136A>T (n.560-2136A>T) c.932A>T (p.Asp311Val) c.1199A>T (p.Asp400Val) c.1157A>T (p.Asp386Val) c.1055A>T (p.Asp352Val) c.1019A>T (p.Asp340Val) c.860A>T (p.Asp287Val) | |
| 1 | g.173909629T>C | CA343773631 | SERPINC1 | c.1076A>G (p.Asp359Gly) c.560-2136A>G (n.560-2136A>G) c.932A>G (p.Asp311Gly) c.1199A>G (p.Asp400Gly) c.1157A>G (p.Asp386Gly) c.1055A>G (p.Asp352Gly) c.1019A>G (p.Asp340Gly) c.860A>G (p.Asp287Gly) | |
| 1 | g.173909629T>G | CA343773632 | SERPINC1 | c.1076A>C (p.Asp359Ala) c.560-2136A>C (n.560-2136A>C) c.932A>C (p.Asp311Ala) c.1199A>C (p.Asp400Ala) c.1157A>C (p.Asp386Ala) c.1055A>C (p.Asp352Ala) c.1019A>C (p.Asp340Ala) c.860A>C (p.Asp287Ala) | |
| 1 | g.173909630C>A | CA343773633 | SERPINC1 | c.1075G>T (p.Asp359Tyr) c.560-2137G>T (n.560-2137G>T) c.931G>T (p.Asp311Tyr) c.1198G>T (p.Asp400Tyr) c.1156G>T (p.Asp386Tyr) c.1054G>T (p.Asp352Tyr) c.1018G>T (p.Asp340Tyr) c.859G>T (p.Asp287Tyr) | |
| 1 | g.173909630C>G | CA343773634 | SERPINC1 | c.1075G>C (p.Asp359His) c.560-2137G>C (n.560-2137G>C) c.931G>C (p.Asp311His) c.1198G>C (p.Asp400His) c.1156G>C (p.Asp386His) c.1054G>C (p.Asp352His) c.1018G>C (p.Asp340His) c.859G>C (p.Asp287His) | |
| 1 | g.173909630C>T | CA343773635 | SERPINC1 | c.1075G>A (p.Asp359Asn) c.560-2137G>A (n.560-2137G>A) c.931G>A (p.Asp311Asn) c.1198G>A (p.Asp400Asn) c.1156G>A (p.Asp386Asn) c.1054G>A (p.Asp352Asn) c.1018G>A (p.Asp340Asn) c.859G>A (p.Asp287Asn) | |
| 1 | g.173909631C>A | CA343773636 | SERPINC1 | c.1074G>T (p.Glu358Asp) c.560-2138G>T (n.560-2138G>T) c.930G>T (p.Glu310Asp) c.1197G>T (p.Glu399Asp) c.1155G>T (p.Glu385Asp) c.1053G>T (p.Glu351Asp) c.1017G>T (p.Glu339Asp) c.858G>T (p.Glu286Asp) | |
| 1 | g.173909631C= | CA1207936921 | SERPINC1 | c.1074G= (p.Glu358=) c.560-2138G= (n.560-2138G=) c.930G= (p.Glu310=) c.1197G= (p.Glu399=) c.1155G= (p.Glu385=) c.1053G= (p.Glu351=) c.1017G= (p.Glu339=) c.858G= (p.Glu286=) | |
| 1 | g.173909631C>G | CA343773637 | SERPINC1 | c.1074G>C (p.Glu358Asp) c.560-2138G>C (n.560-2138G>C) c.930G>C (p.Glu310Asp) c.1197G>C (p.Glu399Asp) c.1155G>C (p.Glu385Asp) c.1053G>C (p.Glu351Asp) c.1017G>C (p.Glu339Asp) c.858G>C (p.Glu286Asp) | |
| 1 | g.173909631C>T | CA421942855 | SERPINC1 | c.1074G>A (p.Glu358=) c.560-2138G>A (n.560-2138G>A) c.930G>A (p.Glu310=) c.1197G>A (p.Glu399=) c.1155G>A (p.Glu385=) c.1053G>A (p.Glu351=) c.1017G>A (p.Glu339=) c.858G>A (p.Glu286=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909632T>A | CA343773638 | SERPINC1 | c.1073A>T (p.Glu358Val) c.560-2139A>T (n.560-2139A>T) c.929A>T (p.Glu310Val) c.1196A>T (p.Glu399Val) c.1154A>T (p.Glu385Val) c.1052A>T (p.Glu351Val) c.1016A>T (p.Glu339Val) c.857A>T (p.Glu286Val) | |
| 1 | g.173909632T>C | CA343773639 | SERPINC1 | c.1073A>G (p.Glu358Gly) c.560-2139A>G (n.560-2139A>G) c.929A>G (p.Glu310Gly) c.1196A>G (p.Glu399Gly) c.1154A>G (p.Glu385Gly) c.1052A>G (p.Glu351Gly) c.1016A>G (p.Glu339Gly) c.857A>G (p.Glu286Gly) | |
| 1 | g.173909632T>G | CA343773640 | SERPINC1 | c.1073A>C (p.Glu358Ala) c.560-2139A>C (n.560-2139A>C) c.929A>C (p.Glu310Ala) c.1196A>C (p.Glu399Ala) c.1154A>C (p.Glu385Ala) c.1052A>C (p.Glu351Ala) c.1016A>C (p.Glu339Ala) c.857A>C (p.Glu286Ala) | |
| 1 | g.173909633C>A | CA343773641 | SERPINC1 | c.1072G>T (p.Glu358Ter) c.560-2140G>T (n.560-2140G>T) c.928G>T (p.Glu310Ter) c.1195G>T (p.Glu399Ter) c.1153G>T (p.Glu385Ter) c.1051G>T (p.Glu351Ter) c.1015G>T (p.Glu339Ter) c.856G>T (p.Glu286Ter) | |
| 1 | g.173909633C>G | CA343773642 | SERPINC1 | c.1072G>C (p.Glu358Gln) c.560-2140G>C (n.560-2140G>C) c.928G>C (p.Glu310Gln) c.1195G>C (p.Glu399Gln) c.1153G>C (p.Glu385Gln) c.1051G>C (p.Glu351Gln) c.1015G>C (p.Glu339Gln) c.856G>C (p.Glu286Gln) | |
| 1 | g.173909633C>T | CA343773643 | SERPINC1 | c.1072G>A (p.Glu358Lys) c.560-2140G>A (n.560-2140G>A) c.928G>A (p.Glu310Lys) c.1195G>A (p.Glu399Lys) c.1153G>A (p.Glu385Lys) c.1051G>A (p.Glu351Lys) c.1015G>A (p.Glu339Lys) c.856G>A (p.Glu286Lys) | |
| 1 | g.173909634A= | CA1207936922 | SERPINC1 | c.1071T= (p.Ile357=) c.560-2141T= (n.560-2141T=) c.927T= (p.Ile309=) c.1194T= (p.Ile398=) c.1152T= (p.Ile384=) c.1050T= (p.Ile350=) c.1014T= (p.Ile338=) c.855T= (p.Ile285=) | |
| 1 | g.173909634A>C | CA343773644 | SERPINC1 | c.1071T>G (p.Ile357Met) c.560-2141T>G (n.560-2141T>G) c.927T>G (p.Ile309Met) c.1194T>G (p.Ile398Met) c.1152T>G (p.Ile384Met) c.1050T>G (p.Ile350Met) c.1014T>G (p.Ile338Met) c.855T>G (p.Ile285Met) | |
| 1 | g.173909634A>G | CA421942857 | SERPINC1 | c.1071T>C (p.Ile357=) c.560-2141T>C (n.560-2141T>C) c.927T>C (p.Ile309=) c.1194T>C (p.Ile398=) c.1152T>C (p.Ile384=) c.1050T>C (p.Ile350=) c.1014T>C (p.Ile338=) c.855T>C (p.Ile285=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909634A>T | CA421942858 | SERPINC1 | c.1071T>A (p.Ile357=) c.560-2141T>A (n.560-2141T>A) c.927T>A (p.Ile309=) c.1194T>A (p.Ile398=) c.1152T>A (p.Ile384=) c.1050T>A (p.Ile350=) c.1014T>A (p.Ile338=) c.855T>A (p.Ile285=) | |
| 1 | g.173909635A= | CA1207936923 | SERPINC1 | c.1070T= (p.Ile357=) c.560-2142T= (n.560-2142T=) c.926T= (p.Ile309=) c.1193T= (p.Ile398=) c.1151T= (p.Ile384=) c.1049T= (p.Ile350=) c.1013T= (p.Ile338=) c.854T= (p.Ile285=) | |
| 1 | g.173909635A>C | CA343773645 | SERPINC1 | c.1070T>G (p.Ile357Ser) c.560-2142T>G (n.560-2142T>G) c.926T>G (p.Ile309Ser) c.1193T>G (p.Ile398Ser) c.1151T>G (p.Ile384Ser) c.1049T>G (p.Ile350Ser) c.1013T>G (p.Ile338Ser) c.854T>G (p.Ile285Ser) | |
| 1 | g.173909635A>G | CA1251286 | SERPINC1 | c.1070T>C (p.Ile357Thr) c.560-2142T>C (n.560-2142T>C) c.926T>C (p.Ile309Thr) c.1193T>C (p.Ile398Thr) c.1151T>C (p.Ile384Thr) c.1049T>C (p.Ile350Thr) c.1013T>C (p.Ile338Thr) c.854T>C (p.Ile285Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909635A>T | CA343773646 | SERPINC1 | c.1070T>A (p.Ile357Asn) c.560-2142T>A (n.560-2142T>A) c.926T>A (p.Ile309Asn) c.1193T>A (p.Ile398Asn) c.1151T>A (p.Ile384Asn) c.1049T>A (p.Ile350Asn) c.1013T>A (p.Ile338Asn) c.854T>A (p.Ile285Asn) | |
| 1 | g.173909636del | CA2586964402 | SERPINC1 | c.1069del (p.Ile357LeufsTer7) c.560-2143del (n.560-2143del) c.925del (p.Ile309LeufsTer7) c.1192del (p.Ile398LeufsTer7) c.1150del (p.Ile384LeufsTer7) c.1048del (p.Ile350LeufsTer7) c.1012del (p.Ile338LeufsTer7) c.853del (p.Ile285LeufsTer7) | |
| 1 | g.173909636T>A | CA343773647 | SERPINC1 | c.1069A>T (p.Ile357Phe) c.560-2143A>T (n.560-2143A>T) c.925A>T (p.Ile309Phe) c.1192A>T (p.Ile398Phe) c.1150A>T (p.Ile384Phe) c.1048A>T (p.Ile350Phe) c.1012A>T (p.Ile338Phe) c.853A>T (p.Ile285Phe) | |
| 1 | g.173909636T>C | CA343773648 | SERPINC1 | c.1069A>G (p.Ile357Val) c.560-2143A>G (n.560-2143A>G) c.925A>G (p.Ile309Val) c.1192A>G (p.Ile398Val) c.1150A>G (p.Ile384Val) c.1048A>G (p.Ile350Val) c.1012A>G (p.Ile338Val) c.853A>G (p.Ile285Val) | |
| 1 | g.173909636T>G | CA343773649 | SERPINC1 | c.1069A>C (p.Ile357Leu) c.560-2143A>C (n.560-2143A>C) c.925A>C (p.Ile309Leu) c.1192A>C (p.Ile398Leu) c.1150A>C (p.Ile384Leu) c.1048A>C (p.Ile350Leu) c.1012A>C (p.Ile338Leu) c.853A>C (p.Ile285Leu) | |
| 1 | g.173909637G>A | CA421942861 | SERPINC1 | c.1068C>T (p.Arg356=) c.560-2144C>T (n.560-2144C>T) c.924C>T (p.Arg308=) c.1191C>T (p.Arg397=) c.1149C>T (p.Arg383=) c.1047C>T (p.Arg349=) c.1011C>T (p.Arg337=) c.852C>T (p.Arg284=) | |
| 1 | g.173909637G>C | CA421942862 | SERPINC1 | c.1068C>G (p.Arg356=) c.560-2144C>G (n.560-2144C>G) c.924C>G (p.Arg308=) c.1191C>G (p.Arg397=) c.1149C>G (p.Arg383=) c.1047C>G (p.Arg349=) c.1011C>G (p.Arg337=) c.852C>G (p.Arg284=) | |
| 1 | g.173909637G>T | CA421942859 | SERPINC1 | c.1068C>A (p.Arg356=) c.560-2144C>A (n.560-2144C>A) c.924C>A (p.Arg308=) c.1191C>A (p.Arg397=) c.1149C>A (p.Arg383=) c.1047C>A (p.Arg349=) c.1011C>A (p.Arg337=) c.852C>A (p.Arg284=) | |
| 1 | g.173909638C>A | CA32780230 | SERPINC1 | c.1067G>T (p.Arg356Leu) c.560-2145G>T (n.560-2145G>T) c.923G>T (p.Arg308Leu) c.1190G>T (p.Arg397Leu) c.1148G>T (p.Arg383Leu) c.1046G>T (p.Arg349Leu) c.1010G>T (p.Arg337Leu) c.851G>T (p.Arg284Leu) | dbSNP gnomAD v4 |
| 1 | g.173909638C= | CA1143933623 | SERPINC1 | c.1067G= (p.Arg356=) c.560-2145G= (n.560-2145G=) c.923G= (p.Arg308=) c.1190G= (p.Arg397=) c.1148G= (p.Arg383=) c.1046G= (p.Arg349=) c.1010G= (p.Arg337=) c.851G= (p.Arg284=) | |
| 1 | g.173909638C>G | CA343773650 | SERPINC1 | c.1067G>C (p.Arg356Pro) c.560-2145G>C (n.560-2145G>C) c.923G>C (p.Arg308Pro) c.1190G>C (p.Arg397Pro) c.1148G>C (p.Arg383Pro) c.1046G>C (p.Arg349Pro) c.1010G>C (p.Arg337Pro) c.851G>C (p.Arg284Pro) | |
| 1 | g.173909638C>T | CA1251287 | SERPINC1 | c.1067G>A (p.Arg356His) c.560-2145G>A (n.560-2145G>A) c.923G>A (p.Arg308His) c.1190G>A (p.Arg397His) c.1148G>A (p.Arg383His) c.1046G>A (p.Arg349His) c.1010G>A (p.Arg337His) c.851G>A (p.Arg284His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173909639G>A | CA1251288 | SERPINC1 | c.1066C>T (p.Arg356Cys) c.560-2146C>T (n.560-2146C>T) c.922C>T (p.Arg308Cys) c.1189C>T (p.Arg397Cys) c.1147C>T (p.Arg383Cys) c.1045C>T (p.Arg349Cys) c.1009C>T (p.Arg337Cys) c.850C>T (p.Arg284Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173909639G>C | CA343773651 | SERPINC1 | c.1066C>G (p.Arg356Gly) c.560-2146C>G (n.560-2146C>G) c.922C>G (p.Arg308Gly) c.1189C>G (p.Arg397Gly) c.1147C>G (p.Arg383Gly) c.1045C>G (p.Arg349Gly) c.1009C>G (p.Arg337Gly) c.850C>G (p.Arg284Gly) | gnomAD v4 |
| 1 | g.173909639G= | CA1144147984 | SERPINC1 | c.1066C= (p.Arg356=) c.560-2146C= (n.560-2146C=) c.922C= (p.Arg308=) c.1189C= (p.Arg397=) c.1147C= (p.Arg383=) c.1045C= (p.Arg349=) c.1009C= (p.Arg337=) c.850C= (p.Arg284=) | |
| 1 | g.173909639G>T | CA343773652 | SERPINC1 | c.1066C>A (p.Arg356Ser) c.560-2146C>A (n.560-2146C>A) c.922C>A (p.Arg308Ser) c.1189C>A (p.Arg397Ser) c.1147C>A (p.Arg383Ser) c.1045C>A (p.Arg349Ser) c.1009C>A (p.Arg337Ser) c.850C>A (p.Arg284Ser) | |
| 1 | g.173909640G>A | CA421942864 | SERPINC1 | c.1065C>T (p.Phe355=) c.560-2147C>T (n.560-2147C>T) c.921C>T (p.Phe307=) c.1188C>T (p.Phe396=) c.1146C>T (p.Phe382=) c.1044C>T (p.Phe348=) c.1008C>T (p.Phe336=) c.849C>T (p.Phe283=) | |
| 1 | g.173909640G>C | CA343773653 | SERPINC1 | c.1065C>G (p.Phe355Leu) c.560-2147C>G (n.560-2147C>G) c.921C>G (p.Phe307Leu) c.1188C>G (p.Phe396Leu) c.1146C>G (p.Phe382Leu) c.1044C>G (p.Phe348Leu) c.1008C>G (p.Phe336Leu) c.849C>G (p.Phe283Leu) | |
| 1 | g.173909640G>T | CA343773654 | SERPINC1 | c.1065C>A (p.Phe355Leu) c.560-2147C>A (n.560-2147C>A) c.921C>A (p.Phe307Leu) c.1188C>A (p.Phe396Leu) c.1146C>A (p.Phe382Leu) c.1044C>A (p.Phe348Leu) c.1008C>A (p.Phe336Leu) c.849C>A (p.Phe283Leu) | |
| 1 | g.173909641A>C | CA343773655 | SERPINC1 | c.1064T>G (p.Phe355Cys) c.560-2148T>G (n.560-2148T>G) c.920T>G (p.Phe307Cys) c.1187T>G (p.Phe396Cys) c.1145T>G (p.Phe382Cys) c.1043T>G (p.Phe348Cys) c.1007T>G (p.Phe336Cys) c.848T>G (p.Phe283Cys) | |
| 1 | g.173909641A>G | CA343773656 | SERPINC1 | c.1064T>C (p.Phe355Ser) c.560-2148T>C (n.560-2148T>C) c.920T>C (p.Phe307Ser) c.1187T>C (p.Phe396Ser) c.1145T>C (p.Phe382Ser) c.1043T>C (p.Phe348Ser) c.1007T>C (p.Phe336Ser) c.848T>C (p.Phe283Ser) | |
| 1 | g.173909641A>T | CA343773657 | SERPINC1 | c.1064T>A (p.Phe355Tyr) c.560-2148T>A (n.560-2148T>A) c.920T>A (p.Phe307Tyr) c.1187T>A (p.Phe396Tyr) c.1145T>A (p.Phe382Tyr) c.1043T>A (p.Phe348Tyr) c.1007T>A (p.Phe336Tyr) c.848T>A (p.Phe283Tyr) | |
| 1 | g.173909642A= | CA1207936924 | SERPINC1 | c.1063T= (p.Phe355=) c.560-2149T= (n.560-2149T=) c.919T= (p.Phe307=) c.1186T= (p.Phe396=) c.1144T= (p.Phe382=) c.1042T= (p.Phe348=) c.1006T= (p.Phe336=) c.847T= (p.Phe283=) | |
| 1 | g.173909642A>C | CA32780236 | SERPINC1 | c.1063T>G (p.Phe355Val) c.560-2149T>G (n.560-2149T>G) c.919T>G (p.Phe307Val) c.1186T>G (p.Phe396Val) c.1144T>G (p.Phe382Val) c.1042T>G (p.Phe348Val) c.1006T>G (p.Phe336Val) c.847T>G (p.Phe283Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909642A>G | CA343773659 | SERPINC1 | c.1063T>C (p.Phe355Leu) c.560-2149T>C (n.560-2149T>C) c.919T>C (p.Phe307Leu) c.1186T>C (p.Phe396Leu) c.1144T>C (p.Phe382Leu) c.1042T>C (p.Phe348Leu) c.1006T>C (p.Phe336Leu) c.847T>C (p.Phe283Leu) | |
| 1 | g.173909642A>T | CA343773658 | SERPINC1 | c.1063T>A (p.Phe355Ile) c.560-2149T>A (n.560-2149T>A) c.919T>A (p.Phe307Ile) c.1186T>A (p.Phe396Ile) c.1144T>A (p.Phe382Ile) c.1042T>A (p.Phe348Ile) c.1006T>A (p.Phe336Ile) c.847T>A (p.Phe283Ile) | |
| 1 | g.173909643G>A | CA421942869 | SERPINC1 | c.1062C>T (p.Arg354=) c.560-2150C>T (n.560-2150C>T) c.918C>T (p.Arg306=) c.1185C>T (p.Arg395=) c.1143C>T (p.Arg381=) c.1041C>T (p.Arg347=) c.1005C>T (p.Arg335=) c.846C>T (p.Arg282=) | COSMIC |
| 1 | g.173909643G>C | CA421942867 | SERPINC1 | c.1062C>G (p.Arg354=) c.560-2150C>G (n.560-2150C>G) c.918C>G (p.Arg306=) c.1185C>G (p.Arg395=) c.1143C>G (p.Arg381=) c.1041C>G (p.Arg347=) c.1005C>G (p.Arg335=) c.846C>G (p.Arg282=) | dbSNP gnomAD v4 |
| 1 | g.173909643G= | CA1207936925 | SERPINC1 | c.1062C= (p.Arg354=) c.560-2150C= (n.560-2150C=) c.918C= (p.Arg306=) c.1185C= (p.Arg395=) c.1143C= (p.Arg381=) c.1041C= (p.Arg347=) c.1005C= (p.Arg335=) c.846C= (p.Arg282=) | |
| 1 | g.173909643G>T | CA421942868 | SERPINC1 | c.1062C>A (p.Arg354=) c.560-2150C>A (n.560-2150C>A) c.918C>A (p.Arg306=) c.1185C>A (p.Arg395=) c.1143C>A (p.Arg381=) c.1041C>A (p.Arg347=) c.1005C>A (p.Arg335=) c.846C>A (p.Arg282=) | |
| 1 | g.173909644C>A | CA343773660 | SERPINC1 | c.1061G>T (p.Arg354Leu) c.560-2151G>T (n.560-2151G>T) c.917G>T (p.Arg306Leu) c.1184G>T (p.Arg395Leu) c.1142G>T (p.Arg381Leu) c.1040G>T (p.Arg347Leu) c.1004G>T (p.Arg335Leu) c.845G>T (p.Arg282Leu) | |
| 1 | g.173909644C= | CA1207936926 | SERPINC1 | c.1061G= (p.Arg354=) c.560-2151G= (n.560-2151G=) c.917G= (p.Arg306=) c.1184G= (p.Arg395=) c.1142G= (p.Arg381=) c.1040G= (p.Arg347=) c.1004G= (p.Arg335=) c.845G= (p.Arg282=) | |
| 1 | g.173909644C>G | CA343773661 | SERPINC1 | c.1061G>C (p.Arg354Pro) c.560-2151G>C (n.560-2151G>C) c.917G>C (p.Arg306Pro) c.1184G>C (p.Arg395Pro) c.1142G>C (p.Arg381Pro) c.1040G>C (p.Arg347Pro) c.1004G>C (p.Arg335Pro) c.845G>C (p.Arg282Pro) | |
| 1 | g.173909644C>T | CA1251289 | SERPINC1 | c.1061G>A (p.Arg354His) c.560-2151G>A (n.560-2151G>A) c.917G>A (p.Arg306His) c.1184G>A (p.Arg395His) c.1142G>A (p.Arg381His) c.1040G>A (p.Arg347His) c.1004G>A (p.Arg335His) c.845G>A (p.Arg282His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909644_173909645delinsCG | CA1207936927 | SERPINC1 | c.1060_1061delinsCG (p.Arg354=) c.560-2152_560-2151delinsCG (n.560-2152_560-2151delinsCG) c.916_917delinsCG (p.Arg306=) c.1183_1184delinsCG (p.Arg395=) c.1141_1142delinsCG (p.Arg381=) c.1039_1040delinsCG (p.Arg347=) c.1003_1004delinsCG (p.Arg335=) c.844_845delinsCG (p.Arg282=) | |
| 1 | g.173909645G>A | CA343773662 | SERPINC1 | c.1060C>T (p.Arg354Cys) c.560-2152C>T (n.560-2152C>T) c.916C>T (p.Arg306Cys) c.1183C>T (p.Arg395Cys) c.1141C>T (p.Arg381Cys) c.1039C>T (p.Arg347Cys) c.1003C>T (p.Arg335Cys) c.844C>T (p.Arg282Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909645G>C | CA343773663 | SERPINC1 | c.1060C>G (p.Arg354Gly) c.560-2152C>G (n.560-2152C>G) c.916C>G (p.Arg306Gly) c.1183C>G (p.Arg395Gly) c.1141C>G (p.Arg381Gly) c.1039C>G (p.Arg347Gly) c.1003C>G (p.Arg335Gly) c.844C>G (p.Arg282Gly) | |
| 1 | g.173909645G= | CA1207936928 | SERPINC1 | c.1060C= (p.Arg354=) c.560-2152C= (n.560-2152C=) c.916C= (p.Arg306=) c.1183C= (p.Arg395=) c.1141C= (p.Arg381=) c.1039C= (p.Arg347=) c.1003C= (p.Arg335=) c.844C= (p.Arg282=) | |
| 1 | g.173909645G>T | CA1251290 | SERPINC1 | c.1060C>A (p.Arg354Ser) c.560-2152C>A (n.560-2152C>A) c.916C>A (p.Arg306Ser) c.1183C>A (p.Arg395Ser) c.1141C>A (p.Arg381Ser) c.1039C>A (p.Arg347Ser) c.1003C>A (p.Arg335Ser) c.844C>A (p.Arg282Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909648del | CA337494 | SERPINC1 | c.1060del (p.Arg354AlafsTer10) c.560-2152del (n.560-2152del) c.916del (p.Arg306AlafsTer10) c.1183del (p.Arg395AlafsTer10) c.1141del (p.Arg381AlafsTer10) c.1039del (p.Arg347AlafsTer10) c.1003del (p.Arg335AlafsTer10) c.844del (p.Arg282AlafsTer10) | ClinVar dbSNP |
| 1 | g.173909645_173909646insCTCTTAATATCTGTCTCTTTGCTCTGAATTCCAAT | CA2511400248 | SERPINC1 | c.1059_1060insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg354IlefsTer22) c.560-2153_560-2152insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (n.560-2153_560-2152insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG) c.915_916insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg306IlefsTer22) c.1182_1183insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg395IlefsTer22) c.1140_1141insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg381IlefsTer22) c.1038_1039insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg347IlefsTer22) c.1002_1003insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg335IlefsTer22) c.843_844insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG (p.Arg282IlefsTer22) | |
| 1 | g.173909646G>A | CA421942873 | SERPINC1 | c.1059C>T (p.Pro353=) c.560-2153C>T (n.560-2153C>T) c.915C>T (p.Pro305=) c.1182C>T (p.Pro394=) c.1140C>T (p.Pro380=) c.1038C>T (p.Pro346=) c.1002C>T (p.Pro334=) c.843C>T (p.Pro281=) | |
| 1 | g.173909646G>C | CA421942874 | SERPINC1 | c.1059C>G (p.Pro353=) c.560-2153C>G (n.560-2153C>G) c.915C>G (p.Pro305=) c.1182C>G (p.Pro394=) c.1140C>G (p.Pro380=) c.1038C>G (p.Pro346=) c.1002C>G (p.Pro334=) c.843C>G (p.Pro281=) | |
| 1 | g.173909646G= | CA1207936929 | SERPINC1 | c.1059C= (p.Pro353=) c.560-2153C= (n.560-2153C=) c.915C= (p.Pro305=) c.1182C= (p.Pro394=) c.1140C= (p.Pro380=) c.1038C= (p.Pro346=) c.1002C= (p.Pro334=) c.843C= (p.Pro281=) | |
| 1 | g.173909646G>T | CA1251291 | SERPINC1 | c.1059C>A (p.Pro353=) c.560-2153C>A (n.560-2153C>A) c.915C>A (p.Pro305=) c.1182C>A (p.Pro394=) c.1140C>A (p.Pro380=) c.1038C>A (p.Pro346=) c.1002C>A (p.Pro334=) c.843C>A (p.Pro281=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909647G>A | CA343773664 | SERPINC1 | c.1058C>T (p.Pro353Leu) c.560-2154C>T (n.560-2154C>T) c.914C>T (p.Pro305Leu) c.1181C>T (p.Pro394Leu) c.1139C>T (p.Pro380Leu) c.1037C>T (p.Pro346Leu) c.1001C>T (p.Pro334Leu) c.842C>T (p.Pro281Leu) | ClinVar |
| 1 | g.173909647G>C | CA343773665 | SERPINC1 | c.1058C>G (p.Pro353Arg) c.560-2154C>G (n.560-2154C>G) c.914C>G (p.Pro305Arg) c.1181C>G (p.Pro394Arg) c.1139C>G (p.Pro380Arg) c.1037C>G (p.Pro346Arg) c.1001C>G (p.Pro334Arg) c.842C>G (p.Pro281Arg) | |
| 1 | g.173909647G>T | CA343773666 | SERPINC1 | c.1058C>A (p.Pro353His) c.560-2154C>A (n.560-2154C>A) c.914C>A (p.Pro305His) c.1181C>A (p.Pro394His) c.1139C>A (p.Pro380His) c.1037C>A (p.Pro346His) c.1001C>A (p.Pro334His) c.842C>A (p.Pro281His) | |
| 1 | g.173909648G>A | CA343773667 | SERPINC1 | c.1057C>T (p.Pro353Ser) c.560-2155C>T (n.560-2155C>T) c.913C>T (p.Pro305Ser) c.1180C>T (p.Pro394Ser) c.1138C>T (p.Pro380Ser) c.1036C>T (p.Pro346Ser) c.1000C>T (p.Pro334Ser) c.841C>T (p.Pro281Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173909648G>C | CA343773668 | SERPINC1 | c.1057C>G (p.Pro353Ala) c.560-2155C>G (n.560-2155C>G) c.913C>G (p.Pro305Ala) c.1180C>G (p.Pro394Ala) c.1138C>G (p.Pro380Ala) c.1036C>G (p.Pro346Ala) c.1000C>G (p.Pro334Ala) c.841C>G (p.Pro281Ala) | |
| 1 | g.173909648G>T | CA343773669 | SERPINC1 | c.1057C>A (p.Pro353Thr) c.560-2155C>A (n.560-2155C>A) c.913C>A (p.Pro305Thr) c.1180C>A (p.Pro394Thr) c.1138C>A (p.Pro380Thr) c.1036C>A (p.Pro346Thr) c.1000C>A (p.Pro334Thr) c.841C>A (p.Pro281Thr) | |
| 1 | g.173909649del | CA915940634 | SERPINC1 | c.1056del (p.Met352IlefsTer12) c.560-2156del (n.560-2156del) c.912del (p.Met304IlefsTer12) c.1179del (p.Met393IlefsTer12) c.1137del (p.Met379IlefsTer12) c.1035del (p.Met345IlefsTer12) c.999del (p.Met333IlefsTer12) c.840del (p.Met280IlefsTer12) | |
| 1 | g.173909649C>A | CA343773671 | SERPINC1 | c.1056G>T (p.Met352Ile) c.560-2156G>T (n.560-2156G>T) c.912G>T (p.Met304Ile) c.1179G>T (p.Met393Ile) c.1137G>T (p.Met379Ile) c.1035G>T (p.Met345Ile) c.999G>T (p.Met333Ile) c.840G>T (p.Met280Ile) | |
| 1 | g.173909649C>G | CA343773672 | SERPINC1 | c.1056G>C (p.Met352Ile) c.560-2156G>C (n.560-2156G>C) c.912G>C (p.Met304Ile) c.1179G>C (p.Met393Ile) c.1137G>C (p.Met379Ile) c.1035G>C (p.Met345Ile) c.999G>C (p.Met333Ile) c.840G>C (p.Met280Ile) | |
| 1 | g.173909649C>T | CA343773670 | SERPINC1 | c.1056G>A (p.Met352Ile) c.560-2156G>A (n.560-2156G>A) c.912G>A (p.Met304Ile) c.1179G>A (p.Met393Ile) c.1137G>A (p.Met379Ile) c.1035G>A (p.Met345Ile) c.999G>A (p.Met333Ile) c.840G>A (p.Met280Ile) | gnomAD v4 |
| 1 | g.173909650A>C | CA343773673 | SERPINC1 | c.1055T>G (p.Met352Arg) c.560-2157T>G (n.560-2157T>G) c.911T>G (p.Met304Arg) c.1178T>G (p.Met393Arg) c.1136T>G (p.Met379Arg) c.1034T>G (p.Met345Arg) c.998T>G (p.Met333Arg) c.839T>G (p.Met280Arg) | |
| 1 | g.173909650A>G | CA343773674 | SERPINC1 | c.1055T>C (p.Met352Thr) c.560-2157T>C (n.560-2157T>C) c.911T>C (p.Met304Thr) c.1178T>C (p.Met393Thr) c.1136T>C (p.Met379Thr) c.1034T>C (p.Met345Thr) c.998T>C (p.Met333Thr) c.839T>C (p.Met280Thr) | gnomAD v4 |
| 1 | g.173909650A>T | CA343773675 | SERPINC1 | c.1055T>A (p.Met352Lys) c.560-2157T>A (n.560-2157T>A) c.911T>A (p.Met304Lys) c.1178T>A (p.Met393Lys) c.1136T>A (p.Met379Lys) c.1034T>A (p.Met345Lys) c.998T>A (p.Met333Lys) c.839T>A (p.Met280Lys) | gnomAD v4 |
| 1 | g.173909651T>A | CA343773676 | SERPINC1 | c.1054A>T (p.Met352Leu) c.560-2158A>T (n.560-2158A>T) c.910A>T (p.Met304Leu) c.1177A>T (p.Met393Leu) c.1135A>T (p.Met379Leu) c.1033A>T (p.Met345Leu) c.997A>T (p.Met333Leu) c.838A>T (p.Met280Leu) | |
| 1 | g.173909651T>C | CA10608814 | SERPINC1 | c.1054A>G (p.Met352Val) c.560-2158A>G (n.560-2158A>G) c.910A>G (p.Met304Val) c.1177A>G (p.Met393Val) c.1135A>G (p.Met379Val) c.1033A>G (p.Met345Val) c.997A>G (p.Met333Val) c.838A>G (p.Met280Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909651T>G | CA343773684 | SERPINC1 | c.1054A>C (p.Met352Leu) c.560-2158A>C (n.560-2158A>C) c.910A>C (p.Met304Leu) c.1177A>C (p.Met393Leu) c.1135A>C (p.Met379Leu) c.1033A>C (p.Met345Leu) c.997A>C (p.Met333Leu) c.838A>C (p.Met280Leu) | |
| 1 | g.173909651T= | CA1207936930 | SERPINC1 | c.1054A= (p.Met352=) c.560-2158A= (n.560-2158A=) c.910A= (p.Met304=) c.1177A= (p.Met393=) c.1135A= (p.Met379=) c.1033A= (p.Met345=) c.997A= (p.Met333=) c.838A= (p.Met280=) | |
| 1 | g.173909652G>A | CA421942878 | SERPINC1 | c.1053C>T (p.His351=) c.560-2159C>T (n.560-2159C>T) c.909C>T (p.His303=) c.1176C>T (p.His392=) c.1134C>T (p.His378=) c.1032C>T (p.His344=) c.996C>T (p.His332=) c.837C>T (p.His279=) | dbSNP |
| 1 | g.173909652G>C | CA343773687 | SERPINC1 | c.1053C>G (p.His351Gln) c.560-2159C>G (n.560-2159C>G) c.909C>G (p.His303Gln) c.1176C>G (p.His392Gln) c.1134C>G (p.His378Gln) c.1032C>G (p.His344Gln) c.996C>G (p.His332Gln) c.837C>G (p.His279Gln) | |
| 1 | g.173909652G= | CA1207936931 | SERPINC1 | c.1053C= (p.His351=) c.560-2159C= (n.560-2159C=) c.909C= (p.His303=) c.1176C= (p.His392=) c.1134C= (p.His378=) c.1032C= (p.His344=) c.996C= (p.His332=) c.837C= (p.His279=) | |
| 1 | g.173909652G>T | CA343773689 | SERPINC1 | c.1053C>A (p.His351Gln) c.560-2159C>A (n.560-2159C>A) c.909C>A (p.His303Gln) c.1176C>A (p.His392Gln) c.1134C>A (p.His378Gln) c.1032C>A (p.His344Gln) c.996C>A (p.His332Gln) c.837C>A (p.His279Gln) | |
| 1 | g.173909653T>A | CA343773691 | SERPINC1 | c.1052A>T (p.His351Leu) c.560-2160A>T (n.560-2160A>T) c.908A>T (p.His303Leu) c.1175A>T (p.His392Leu) c.1133A>T (p.His378Leu) c.1031A>T (p.His344Leu) c.995A>T (p.His332Leu) c.836A>T (p.His279Leu) | gnomAD v4 |
| 1 | g.173909653T>C | CA343773692 | SERPINC1 | c.1052A>G (p.His351Arg) c.560-2160A>G (n.560-2160A>G) c.908A>G (p.His303Arg) c.1175A>G (p.His392Arg) c.1133A>G (p.His378Arg) c.1031A>G (p.His344Arg) c.995A>G (p.His332Arg) c.836A>G (p.His279Arg) | |
| 1 | g.173909653T>G | CA343773693 | SERPINC1 | c.1052A>C (p.His351Pro) c.560-2160A>C (n.560-2160A>C) c.908A>C (p.His303Pro) c.1175A>C (p.His392Pro) c.1133A>C (p.His378Pro) c.1031A>C (p.His344Pro) c.995A>C (p.His332Pro) c.836A>C (p.His279Pro) | |
| 1 | g.173909654G>A | CA32780255 | SERPINC1 | c.1051C>T (p.His351Tyr) c.560-2161C>T (n.560-2161C>T) c.907C>T (p.His303Tyr) c.1174C>T (p.His392Tyr) c.1132C>T (p.His378Tyr) c.1030C>T (p.His344Tyr) c.994C>T (p.His332Tyr) c.835C>T (p.His279Tyr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173909654G>C | CA343773697 | SERPINC1 | c.1051C>G (p.His351Asp) c.560-2161C>G (n.560-2161C>G) c.907C>G (p.His303Asp) c.1174C>G (p.His392Asp) c.1132C>G (p.His378Asp) c.1030C>G (p.His344Asp) c.994C>G (p.His332Asp) c.835C>G (p.His279Asp) | |
| 1 | g.173909654G= | CA1207936932 | SERPINC1 | c.1051C= (p.His351=) c.560-2161C= (n.560-2161C=) c.907C= (p.His303=) c.1174C= (p.His392=) c.1132C= (p.His378=) c.1030C= (p.His344=) c.994C= (p.His332=) c.835C= (p.His279=) | |
| 1 | g.173909654G>T | CA343773698 | SERPINC1 | c.1051C>A (p.His351Asn) c.560-2161C>A (n.560-2161C>A) c.907C>A (p.His303Asn) c.1174C>A (p.His392Asn) c.1132C>A (p.His378Asn) c.1030C>A (p.His344Asn) c.994C>A (p.His332Asn) c.835C>A (p.His279Asn) | |
| 1 | g.173909655G>A | CA32780259 | SERPINC1 | c.1050C>T (p.Val350=) c.560-2162C>T (n.560-2162C>T) c.906C>T (p.Val302=) c.1173C>T (p.Val391=) c.1131C>T (p.Val377=) c.1029C>T (p.Val343=) c.993C>T (p.Val331=) c.834C>T (p.Val278=) | dbSNP |
| 1 | g.173909655G>C | CA421942881 | SERPINC1 | c.1050C>G (p.Val350=) c.560-2162C>G (n.560-2162C>G) c.906C>G (p.Val302=) c.1173C>G (p.Val391=) c.1131C>G (p.Val377=) c.1029C>G (p.Val343=) c.993C>G (p.Val331=) c.834C>G (p.Val278=) | |
| 1 | g.173909655G= | CA1207936933 | SERPINC1 | c.1050C= (p.Val350=) c.560-2162C= (n.560-2162C=) c.906C= (p.Val302=) c.1173C= (p.Val391=) c.1131C= (p.Val377=) c.1029C= (p.Val343=) c.993C= (p.Val331=) c.834C= (p.Val278=) | |
| 1 | g.173909655G>T | CA421942882 | SERPINC1 | c.1050C>A (p.Val350=) c.560-2162C>A (n.560-2162C>A) c.906C>A (p.Val302=) c.1173C>A (p.Val391=) c.1131C>A (p.Val377=) c.1029C>A (p.Val343=) c.993C>A (p.Val331=) c.834C>A (p.Val278=) | |
| 1 | g.173909656A>C | CA343773702 | SERPINC1 | c.1049T>G (p.Val350Gly) c.560-2163T>G (n.560-2163T>G) c.905T>G (p.Val302Gly) c.1172T>G (p.Val391Gly) c.1130T>G (p.Val377Gly) c.1028T>G (p.Val343Gly) c.992T>G (p.Val331Gly) c.833T>G (p.Val278Gly) | |
| 1 | g.173909656A>G | CA343773704 | SERPINC1 | c.1049T>C (p.Val350Ala) c.560-2163T>C (n.560-2163T>C) c.905T>C (p.Val302Ala) c.1172T>C (p.Val391Ala) c.1130T>C (p.Val377Ala) c.1028T>C (p.Val343Ala) c.992T>C (p.Val331Ala) c.833T>C (p.Val278Ala) | |
| 1 | g.173909656A>T | CA343773706 | SERPINC1 | c.1049T>A (p.Val350Asp) c.560-2163T>A (n.560-2163T>A) c.905T>A (p.Val302Asp) c.1172T>A (p.Val391Asp) c.1130T>A (p.Val377Asp) c.1028T>A (p.Val343Asp) c.992T>A (p.Val331Asp) c.833T>A (p.Val278Asp) | |
| 1 | g.173909657C>A | CA343773707 | SERPINC1 | c.1048G>T (p.Val350Phe) c.560-2164G>T (n.560-2164G>T) c.904G>T (p.Val302Phe) c.1171G>T (p.Val391Phe) c.1129G>T (p.Val377Phe) c.1027G>T (p.Val343Phe) c.991G>T (p.Val331Phe) c.832G>T (p.Val278Phe) | |
| 1 | g.173909657C>G | CA343773710 | SERPINC1 | c.1048G>C (p.Val350Leu) c.560-2164G>C (n.560-2164G>C) c.904G>C (p.Val302Leu) c.1171G>C (p.Val391Leu) c.1129G>C (p.Val377Leu) c.1027G>C (p.Val343Leu) c.991G>C (p.Val331Leu) c.832G>C (p.Val278Leu) | |
| 1 | g.173909657C>T | CA343773712 | SERPINC1 | c.1048G>A (p.Val350Ile) c.560-2164G>A (n.560-2164G>A) c.904G>A (p.Val302Ile) c.1171G>A (p.Val391Ile) c.1129G>A (p.Val377Ile) c.1027G>A (p.Val343Ile) c.991G>A (p.Val331Ile) c.832G>A (p.Val278Ile) | |
| 1 | g.173909658C>A | CA421942886 | SERPINC1 | c.1047G>T (p.Val349=) c.560-2165G>T (n.560-2165G>T) c.903G>T (p.Val301=) c.1170G>T (p.Val390=) c.1128G>T (p.Val376=) c.1026G>T (p.Val342=) c.990G>T (p.Val330=) c.831G>T (p.Val277=) | |
| 1 | g.173909658C>G | CA421942885 | SERPINC1 | c.1047G>C (p.Val349=) c.560-2165G>C (n.560-2165G>C) c.903G>C (p.Val301=) c.1170G>C (p.Val390=) c.1128G>C (p.Val376=) c.1026G>C (p.Val342=) c.990G>C (p.Val330=) c.831G>C (p.Val277=) | |
| 1 | g.173909658C>T | CA421942884 | SERPINC1 | c.1047G>A (p.Val349=) c.560-2165G>A (n.560-2165G>A) c.903G>A (p.Val301=) c.1170G>A (p.Val390=) c.1128G>A (p.Val376=) c.1026G>A (p.Val342=) c.990G>A (p.Val330=) c.831G>A (p.Val277=) | |
| 1 | g.173909659A>C | CA343773714 | SERPINC1 | c.1046T>G (p.Val349Gly) c.560-2166T>G (n.560-2166T>G) c.902T>G (p.Val301Gly) c.1169T>G (p.Val390Gly) c.1127T>G (p.Val376Gly) c.1025T>G (p.Val342Gly) c.989T>G (p.Val330Gly) c.830T>G (p.Val277Gly) | gnomAD v4 |
| 1 | g.173909659A>G | CA343773716 | SERPINC1 | c.1046T>C (p.Val349Ala) c.560-2166T>C (n.560-2166T>C) c.902T>C (p.Val301Ala) c.1169T>C (p.Val390Ala) c.1127T>C (p.Val376Ala) c.1025T>C (p.Val342Ala) c.989T>C (p.Val330Ala) c.830T>C (p.Val277Ala) | |
| 1 | g.173909659A>T | CA343773718 | SERPINC1 | c.1046T>A (p.Val349Glu) c.560-2166T>A (n.560-2166T>A) c.902T>A (p.Val301Glu) c.1169T>A (p.Val390Glu) c.1127T>A (p.Val376Glu) c.1025T>A (p.Val342Glu) c.989T>A (p.Val330Glu) c.830T>A (p.Val277Glu) | |
| 1 | g.173909660C>A | CA343773720 | SERPINC1 | c.1045G>T (p.Val349Leu) c.560-2167G>T (n.560-2167G>T) c.901G>T (p.Val301Leu) c.1168G>T (p.Val390Leu) c.1126G>T (p.Val376Leu) c.1024G>T (p.Val342Leu) c.988G>T (p.Val330Leu) c.829G>T (p.Val277Leu) | |
| 1 | g.173909660C= | CA1207936934 | SERPINC1 | c.1045G= (p.Val349=) c.560-2167G= (n.560-2167G=) c.901G= (p.Val301=) c.1168G= (p.Val390=) c.1126G= (p.Val376=) c.1024G= (p.Val342=) c.988G= (p.Val330=) c.829G= (p.Val277=) | |
| 1 | g.173909660C>G | CA343773721 | SERPINC1 | c.1045G>C (p.Val349Leu) c.560-2167G>C (n.560-2167G>C) c.901G>C (p.Val301Leu) c.1168G>C (p.Val390Leu) c.1126G>C (p.Val376Leu) c.1024G>C (p.Val342Leu) c.988G>C (p.Val330Leu) c.829G>C (p.Val277Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909660C>T | CA343773723 | SERPINC1 | c.1045G>A (p.Val349Met) c.560-2167G>A (n.560-2167G>A) c.901G>A (p.Val301Met) c.1168G>A (p.Val390Met) c.1126G>A (p.Val376Met) c.1024G>A (p.Val342Met) c.988G>A (p.Val330Met) c.829G>A (p.Val277Met) | gnomAD v4 |
| 1 | g.173909661C>A | CA421942891 | SERPINC1 | c.1044G>T (p.Leu348=) c.560-2168G>T (n.560-2168G>T) c.900G>T (p.Leu300=) c.1167G>T (p.Leu389=) c.1125G>T (p.Leu375=) c.1023G>T (p.Leu341=) c.987G>T (p.Leu329=) c.828G>T (p.Leu276=) | dbSNP gnomAD v4 |
| 1 | g.173909661C= | CA1207936935 | SERPINC1 | c.1044G= (p.Leu348=) c.560-2168G= (n.560-2168G=) c.900G= (p.Leu300=) c.1167G= (p.Leu389=) c.1125G= (p.Leu375=) c.1023G= (p.Leu341=) c.987G= (p.Leu329=) c.828G= (p.Leu276=) | |
| 1 | g.173909661C>G | CA421942890 | SERPINC1 | c.1044G>C (p.Leu348=) c.560-2168G>C (n.560-2168G>C) c.900G>C (p.Leu300=) c.1167G>C (p.Leu389=) c.1125G>C (p.Leu375=) c.1023G>C (p.Leu341=) c.987G>C (p.Leu329=) c.828G>C (p.Leu276=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909661C>T | CA421942889 | SERPINC1 | c.1044G>A (p.Leu348=) c.560-2168G>A (n.560-2168G>A) c.900G>A (p.Leu300=) c.1167G>A (p.Leu389=) c.1125G>A (p.Leu375=) c.1023G>A (p.Leu341=) c.987G>A (p.Leu329=) c.828G>A (p.Leu276=) | |
| 1 | g.173909662A>C | CA343773724 | SERPINC1 | c.1043T>G (p.Leu348Arg) c.560-2169T>G (n.560-2169T>G) c.899T>G (p.Leu300Arg) c.1166T>G (p.Leu389Arg) c.1124T>G (p.Leu375Arg) c.1022T>G (p.Leu341Arg) c.986T>G (p.Leu329Arg) c.827T>G (p.Leu276Arg) | |
| 1 | g.173909662A>G | CA343773728 | SERPINC1 | c.1043T>C (p.Leu348Pro) c.560-2169T>C (n.560-2169T>C) c.899T>C (p.Leu300Pro) c.1166T>C (p.Leu389Pro) c.1124T>C (p.Leu375Pro) c.1022T>C (p.Leu341Pro) c.986T>C (p.Leu329Pro) c.827T>C (p.Leu276Pro) | |
| 1 | g.173909662A>T | CA343773726 | SERPINC1 | c.1043T>A (p.Leu348Gln) c.560-2169T>A (n.560-2169T>A) c.899T>A (p.Leu300Gln) c.1166T>A (p.Leu389Gln) c.1124T>A (p.Leu375Gln) c.1022T>A (p.Leu341Gln) c.986T>A (p.Leu329Gln) c.827T>A (p.Leu276Gln) | |
| 1 | g.173909663G>A | CA421942895 | SERPINC1 | c.1042C>T (p.Leu348=) c.560-2170C>T (n.560-2170C>T) c.898C>T (p.Leu300=) c.1165C>T (p.Leu389=) c.1123C>T (p.Leu375=) c.1021C>T (p.Leu341=) c.985C>T (p.Leu329=) c.826C>T (p.Leu276=) | dbSNP |
| 1 | g.173909663G>C | CA343773730 | SERPINC1 | c.1042C>G (p.Leu348Val) c.560-2170C>G (n.560-2170C>G) c.898C>G (p.Leu300Val) c.1165C>G (p.Leu389Val) c.1123C>G (p.Leu375Val) c.1021C>G (p.Leu341Val) c.985C>G (p.Leu329Val) c.826C>G (p.Leu276Val) | |
| 1 | g.173909663G= | CA1207936936 | SERPINC1 | c.1042C= (p.Leu348=) c.560-2170C= (n.560-2170C=) c.898C= (p.Leu300=) c.1165C= (p.Leu389=) c.1123C= (p.Leu375=) c.1021C= (p.Leu341=) c.985C= (p.Leu329=) c.826C= (p.Leu276=) | |
| 1 | g.173909663G>T | CA343773732 | SERPINC1 | c.1042C>A (p.Leu348Met) c.560-2170C>A (n.560-2170C>A) c.898C>A (p.Leu300Met) c.1165C>A (p.Leu389Met) c.1123C>A (p.Leu375Met) c.1021C>A (p.Leu341Met) c.985C>A (p.Leu329Met) c.826C>A (p.Leu276Met) | |
| 1 | g.173909664C>A | CA343773733 | SERPINC1 | c.1041G>T (p.Met347Ile) c.560-2171G>T (n.560-2171G>T) c.897G>T (p.Met299Ile) c.1164G>T (p.Met388Ile) c.1122G>T (p.Met374Ile) c.1020G>T (p.Met340Ile) c.984G>T (p.Met328Ile) c.825G>T (p.Met275Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909664C= | CA1207936937 | SERPINC1 | c.1041G= (p.Met347=) c.560-2171G= (n.560-2171G=) c.897G= (p.Met299=) c.1164G= (p.Met388=) c.1122G= (p.Met374=) c.1020G= (p.Met340=) c.984G= (p.Met328=) c.825G= (p.Met275=) | |
| 1 | g.173909664C>G | CA343773735 | SERPINC1 | c.1041G>C (p.Met347Ile) c.560-2171G>C (n.560-2171G>C) c.897G>C (p.Met299Ile) c.1164G>C (p.Met388Ile) c.1122G>C (p.Met374Ile) c.1020G>C (p.Met340Ile) c.984G>C (p.Met328Ile) c.825G>C (p.Met275Ile) | |
| 1 | g.173909664C>T | CA343773738 | SERPINC1 | c.1041G>A (p.Met347Ile) c.560-2171G>A (n.560-2171G>A) c.897G>A (p.Met299Ile) c.1164G>A (p.Met388Ile) c.1122G>A (p.Met374Ile) c.1020G>A (p.Met340Ile) c.984G>A (p.Met328Ile) c.825G>A (p.Met275Ile) | |
| 1 | g.173909665A>C | CA343773739 | SERPINC1 | c.1040T>G (p.Met347Arg) c.560-2172T>G (n.560-2172T>G) c.896T>G (p.Met299Arg) c.1163T>G (p.Met388Arg) c.1121T>G (p.Met374Arg) c.1019T>G (p.Met340Arg) c.983T>G (p.Met328Arg) c.824T>G (p.Met275Arg) | |
| 1 | g.173909665A>G | CA343773741 | SERPINC1 | c.1040T>C (p.Met347Thr) c.560-2172T>C (n.560-2172T>C) c.896T>C (p.Met299Thr) c.1163T>C (p.Met388Thr) c.1121T>C (p.Met374Thr) c.1019T>C (p.Met340Thr) c.983T>C (p.Met328Thr) c.824T>C (p.Met275Thr) | |
| 1 | g.173909665A>T | CA343773743 | SERPINC1 | c.1040T>A (p.Met347Lys) c.560-2172T>A (n.560-2172T>A) c.896T>A (p.Met299Lys) c.1163T>A (p.Met388Lys) c.1121T>A (p.Met374Lys) c.1019T>A (p.Met340Lys) c.983T>A (p.Met328Lys) c.824T>A (p.Met275Lys) | gnomAD v4 |
| 1 | g.173909666T>A | CA343773745 | SERPINC1 | c.1039A>T (p.Met347Leu) c.560-2173A>T (n.560-2173A>T) c.895A>T (p.Met299Leu) c.1162A>T (p.Met388Leu) c.1120A>T (p.Met374Leu) c.1018A>T (p.Met340Leu) c.982A>T (p.Met328Leu) c.823A>T (p.Met275Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909666T>C | CA343773747 | SERPINC1 | c.1039A>G (p.Met347Val) c.560-2173A>G (n.560-2173A>G) c.895A>G (p.Met299Val) c.1162A>G (p.Met388Val) c.1120A>G (p.Met374Val) c.1018A>G (p.Met340Val) c.982A>G (p.Met328Val) c.823A>G (p.Met275Val) | |
| 1 | g.173909666T>G | CA343773749 | SERPINC1 | c.1039A>C (p.Met347Leu) c.560-2173A>C (n.560-2173A>C) c.895A>C (p.Met299Leu) c.1162A>C (p.Met388Leu) c.1120A>C (p.Met374Leu) c.1018A>C (p.Met340Leu) c.982A>C (p.Met328Leu) c.823A>C (p.Met275Leu) | gnomAD v4 |
| 1 | g.173909666T= | CA1207936938 | SERPINC1 | c.1039A= (p.Met347=) c.560-2173A= (n.560-2173A=) c.895A= (p.Met299=) c.1162A= (p.Met388=) c.1120A= (p.Met374=) c.1018A= (p.Met340=) c.982A= (p.Met328=) c.823A= (p.Met275=) | |
| 1 | g.173909667C>A | CA343773752 | SERPINC1 | c.1038G>T (p.Met346Ile) c.560-2174G>T (n.560-2174G>T) c.894G>T (p.Met298Ile) c.1161G>T (p.Met387Ile) c.1119G>T (p.Met373Ile) c.1017G>T (p.Met339Ile) c.981G>T (p.Met327Ile) c.822G>T (p.Met274Ile) | dbSNP |
| 1 | g.173909667C= | CA1207936939 | SERPINC1 | c.1038G= (p.Met346=) c.560-2174G= (n.560-2174G=) c.894G= (p.Met298=) c.1161G= (p.Met387=) c.1119G= (p.Met373=) c.1017G= (p.Met339=) c.981G= (p.Met327=) c.822G= (p.Met274=) | |
| 1 | g.173909667C>G | CA343773753 | SERPINC1 | c.1038G>C (p.Met346Ile) c.560-2174G>C (n.560-2174G>C) c.894G>C (p.Met298Ile) c.1161G>C (p.Met387Ile) c.1119G>C (p.Met373Ile) c.1017G>C (p.Met339Ile) c.981G>C (p.Met327Ile) c.822G>C (p.Met274Ile) | |
| 1 | g.173909667C>T | CA32780266 | SERPINC1 | c.1038G>A (p.Met346Ile) c.560-2174G>A (n.560-2174G>A) c.894G>A (p.Met298Ile) c.1161G>A (p.Met387Ile) c.1119G>A (p.Met373Ile) c.1017G>A (p.Met339Ile) c.981G>A (p.Met327Ile) c.822G>A (p.Met274Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909668A= | CA1207936940 | SERPINC1 | c.1037T= (p.Met346=) c.560-2175T= (n.560-2175T=) c.893T= (p.Met298=) c.1160T= (p.Met387=) c.1118T= (p.Met373=) c.1016T= (p.Met339=) c.980T= (p.Met327=) c.821T= (p.Met274=) | |
| 1 | g.173909668A>C | CA343773760 | SERPINC1 | c.1037T>G (p.Met346Arg) c.560-2175T>G (n.560-2175T>G) c.893T>G (p.Met298Arg) c.1160T>G (p.Met387Arg) c.1118T>G (p.Met373Arg) c.1016T>G (p.Met339Arg) c.980T>G (p.Met327Arg) c.821T>G (p.Met274Arg) | |
| 1 | g.173909668A>G | CA1251292 | SERPINC1 | c.1037T>C (p.Met346Thr) c.560-2175T>C (n.560-2175T>C) c.893T>C (p.Met298Thr) c.1160T>C (p.Met387Thr) c.1118T>C (p.Met373Thr) c.1016T>C (p.Met339Thr) c.980T>C (p.Met327Thr) c.821T>C (p.Met274Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909668A>T | CA343773757 | SERPINC1 | c.1037T>A (p.Met346Lys) c.560-2175T>A (n.560-2175T>A) c.893T>A (p.Met298Lys) c.1160T>A (p.Met387Lys) c.1118T>A (p.Met373Lys) c.1016T>A (p.Met339Lys) c.980T>A (p.Met327Lys) c.821T>A (p.Met274Lys) | |
| 1 | g.173909669T>A | CA343773762 | SERPINC1 | c.1036A>T (p.Met346Leu) c.560-2176A>T (n.560-2176A>T) c.892A>T (p.Met298Leu) c.1159A>T (p.Met387Leu) c.1117A>T (p.Met373Leu) c.1015A>T (p.Met339Leu) c.979A>T (p.Met327Leu) c.820A>T (p.Met274Leu) | |
| 1 | g.173909669T>C | CA343773764 | SERPINC1 | c.1036A>G (p.Met346Val) c.560-2176A>G (n.560-2176A>G) c.892A>G (p.Met298Val) c.1159A>G (p.Met387Val) c.1117A>G (p.Met373Val) c.1015A>G (p.Met339Val) c.979A>G (p.Met327Val) c.820A>G (p.Met274Val) | |
| 1 | g.173909669T>G | CA343773766 | SERPINC1 | c.1036A>C (p.Met346Leu) c.560-2176A>C (n.560-2176A>C) c.892A>C (p.Met298Leu) c.1159A>C (p.Met387Leu) c.1117A>C (p.Met373Leu) c.1015A>C (p.Met339Leu) c.979A>C (p.Met327Leu) c.820A>C (p.Met274Leu) | |
| 1 | g.173909669_173909672delinsTCTC | CA1207936941 | SERPINC1 | c.1033_1036delinsGAGA (p.Glu345=) c.560-2179_560-2176delinsGAGA (n.560-2179_560-2176delinsGAGA) c.889_892delinsGAGA (p.Glu297=) c.1156_1159delinsGAGA (p.Glu386=) c.1114_1117delinsGAGA (p.Glu372=) c.1012_1015delinsGAGA (p.Glu338=) c.976_979delinsGAGA (p.Glu326=) c.817_820delinsGAGA (p.Glu273=) | |
| 1 | g.173909670C>A | CA343773768 | SERPINC1 | c.1035G>T (p.Glu345Asp) c.560-2177G>T (n.560-2177G>T) c.891G>T (p.Glu297Asp) c.1158G>T (p.Glu386Asp) c.1116G>T (p.Glu372Asp) c.1014G>T (p.Glu338Asp) c.978G>T (p.Glu326Asp) c.819G>T (p.Glu273Asp) | |
| 1 | g.173909670C>G | CA343773770 | SERPINC1 | c.1035G>C (p.Glu345Asp) c.560-2177G>C (n.560-2177G>C) c.891G>C (p.Glu297Asp) c.1158G>C (p.Glu386Asp) c.1116G>C (p.Glu372Asp) c.1014G>C (p.Glu338Asp) c.978G>C (p.Glu326Asp) c.819G>C (p.Glu273Asp) | |
| 1 | g.173909670C>T | CA421942902 | SERPINC1 | c.1035G>A (p.Glu345=) c.560-2177G>A (n.560-2177G>A) c.891G>A (p.Glu297=) c.1158G>A (p.Glu386=) c.1116G>A (p.Glu372=) c.1014G>A (p.Glu338=) c.978G>A (p.Glu326=) c.819G>A (p.Glu273=) | COSMIC |
| 1 | g.173909670_173909676delinsCTCCTCC | CA1144233202 | SERPINC1 | c.1029_1035delinsGGAGGAG (p.Leu343=) c.560-2183_560-2177delinsGGAGGAG (n.560-2183_560-2177delinsGGAGGAG) c.885_891delinsGGAGGAG (p.Leu295=) c.1152_1158delinsGGAGGAG (p.Leu384=) c.1110_1116delinsGGAGGAG (p.Leu370=) c.1008_1014delinsGGAGGAG (p.Leu336=) c.972_978delinsGGAGGAG (p.Leu324=) c.813_819delinsGGAGGAG (p.Leu271=) | |
| 1 | g.173909674_173909676del | CA150670 | SERPINC1 | c.1033_1035del (p.Glu345del) c.560-2179_560-2177del (n.560-2179_560-2177del) c.889_891del (p.Glu297del) c.1156_1158del (p.Glu386del) c.1114_1116del (p.Glu372del) c.1012_1014del (p.Glu338del) c.976_978del (p.Glu326del) c.817_819del (p.Glu273del) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173909671T>A | CA343773773 | SERPINC1 | c.1034A>T (p.Glu345Val) c.560-2178A>T (n.560-2178A>T) c.890A>T (p.Glu297Val) c.1157A>T (p.Glu386Val) c.1115A>T (p.Glu372Val) c.1013A>T (p.Glu338Val) c.977A>T (p.Glu326Val) c.818A>T (p.Glu273Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909671T>C | CA343773775 | SERPINC1 | c.1034A>G (p.Glu345Gly) c.560-2178A>G (n.560-2178A>G) c.890A>G (p.Glu297Gly) c.1157A>G (p.Glu386Gly) c.1115A>G (p.Glu372Gly) c.1013A>G (p.Glu338Gly) c.977A>G (p.Glu326Gly) c.818A>G (p.Glu273Gly) | |
| 1 | g.173909671T>G | CA343773776 | SERPINC1 | c.1034A>C (p.Glu345Ala) c.560-2178A>C (n.560-2178A>C) c.890A>C (p.Glu297Ala) c.1157A>C (p.Glu386Ala) c.1115A>C (p.Glu372Ala) c.1013A>C (p.Glu338Ala) c.977A>C (p.Glu326Ala) c.818A>C (p.Glu273Ala) | |
| 1 | g.173909671T= | CA1207936942 | SERPINC1 | c.1034A= (p.Glu345=) c.560-2178A= (n.560-2178A=) c.890A= (p.Glu297=) c.1157A= (p.Glu386=) c.1115A= (p.Glu372=) c.1013A= (p.Glu338=) c.977A= (p.Glu326=) c.818A= (p.Glu273=) | |
| 1 | g.173909672C>A | CA343773777 | SERPINC1 | c.1033G>T (p.Glu345Ter) c.560-2179G>T (n.560-2179G>T) c.889G>T (p.Glu297Ter) c.1156G>T (p.Glu386Ter) c.1114G>T (p.Glu372Ter) c.1012G>T (p.Glu338Ter) c.976G>T (p.Glu326Ter) c.817G>T (p.Glu273Ter) | |
| 1 | g.173909672C= | CA1207936943 | SERPINC1 | c.1033G= (p.Glu345=) c.560-2179G= (n.560-2179G=) c.889G= (p.Glu297=) c.1156G= (p.Glu386=) c.1114G= (p.Glu372=) c.1012G= (p.Glu338=) c.976G= (p.Glu326=) c.817G= (p.Glu273=) | |
| 1 | g.173909672C>G | CA343773779 | SERPINC1 | c.1033G>C (p.Glu345Gln) c.560-2179G>C (n.560-2179G>C) c.889G>C (p.Glu297Gln) c.1156G>C (p.Glu386Gln) c.1114G>C (p.Glu372Gln) c.1012G>C (p.Glu338Gln) c.976G>C (p.Glu326Gln) c.817G>C (p.Glu273Gln) | |
| 1 | g.173909672C>T | CA343773780 | SERPINC1 | c.1033G>A (p.Glu345Lys) c.560-2179G>A (n.560-2179G>A) c.889G>A (p.Glu297Lys) c.1156G>A (p.Glu386Lys) c.1114G>A (p.Glu372Lys) c.1012G>A (p.Glu338Lys) c.976G>A (p.Glu326Lys) c.817G>A (p.Glu273Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909673C>A | CA343773782 | SERPINC1 | c.1032G>T (p.Glu344Asp) c.560-2180G>T (n.560-2180G>T) c.888G>T (p.Glu296Asp) c.1155G>T (p.Glu385Asp) c.1113G>T (p.Glu371Asp) c.1011G>T (p.Glu337Asp) c.975G>T (p.Glu325Asp) c.816G>T (p.Glu272Asp) | |
| 1 | g.173909673C= | CA1207936944 | SERPINC1 | c.1032G= (p.Glu344=) c.560-2180G= (n.560-2180G=) c.888G= (p.Glu296=) c.1155G= (p.Glu385=) c.1113G= (p.Glu371=) c.1011G= (p.Glu337=) c.975G= (p.Glu325=) c.816G= (p.Glu272=) | |
| 1 | g.173909673C>G | CA343773784 | SERPINC1 | c.1032G>C (p.Glu344Asp) c.560-2180G>C (n.560-2180G>C) c.888G>C (p.Glu296Asp) c.1155G>C (p.Glu385Asp) c.1113G>C (p.Glu371Asp) c.1011G>C (p.Glu337Asp) c.975G>C (p.Glu325Asp) c.816G>C (p.Glu272Asp) | |
| 1 | g.173909673C>T | CA421942903 | SERPINC1 | c.1032G>A (p.Glu344=) c.560-2180G>A (n.560-2180G>A) c.888G>A (p.Glu296=) c.1155G>A (p.Glu385=) c.1113G>A (p.Glu371=) c.1011G>A (p.Glu337=) c.975G>A (p.Glu325=) c.816G>A (p.Glu272=) | dbSNP |
| 1 | g.173909674T>A | CA343773786 | SERPINC1 | c.1031A>T (p.Glu344Val) c.560-2181A>T (n.560-2181A>T) c.887A>T (p.Glu296Val) c.1154A>T (p.Glu385Val) c.1112A>T (p.Glu371Val) c.1010A>T (p.Glu337Val) c.974A>T (p.Glu325Val) c.815A>T (p.Glu272Val) | |
| 1 | g.173909674T>C | CA343773787 | SERPINC1 | c.1031A>G (p.Glu344Gly) c.560-2181A>G (n.560-2181A>G) c.887A>G (p.Glu296Gly) c.1154A>G (p.Glu385Gly) c.1112A>G (p.Glu371Gly) c.1010A>G (p.Glu337Gly) c.974A>G (p.Glu325Gly) c.815A>G (p.Glu272Gly) | |
| 1 | g.173909674T>G | CA343773788 | SERPINC1 | c.1031A>C (p.Glu344Ala) c.560-2181A>C (n.560-2181A>C) c.887A>C (p.Glu296Ala) c.1154A>C (p.Glu385Ala) c.1112A>C (p.Glu371Ala) c.1010A>C (p.Glu337Ala) c.974A>C (p.Glu325Ala) c.815A>C (p.Glu272Ala) | dbSNP |
| 1 | g.173909674T= | CA1207936945 | SERPINC1 | c.1031A= (p.Glu344=) c.560-2181A= (n.560-2181A=) c.887A= (p.Glu296=) c.1154A= (p.Glu385=) c.1112A= (p.Glu371=) c.1010A= (p.Glu337=) c.974A= (p.Glu325=) c.815A= (p.Glu272=) | |
| 1 | g.173909675C>A | CA343773790 | SERPINC1 | c.1030G>T (p.Glu344Ter) c.560-2182G>T (n.560-2182G>T) c.886G>T (p.Glu296Ter) c.1153G>T (p.Glu385Ter) c.1111G>T (p.Glu371Ter) c.1009G>T (p.Glu337Ter) c.973G>T (p.Glu325Ter) c.814G>T (p.Glu272Ter) | dbSNP |
| 1 | g.173909675C= | CA1207936946 | SERPINC1 | c.1030G= (p.Glu344=) c.560-2182G= (n.560-2182G=) c.886G= (p.Glu296=) c.1153G= (p.Glu385=) c.1111G= (p.Glu371=) c.1009G= (p.Glu337=) c.973G= (p.Glu325=) c.814G= (p.Glu272=) | |
| 1 | g.173909675C>G | CA343773792 | SERPINC1 | c.1030G>C (p.Glu344Gln) c.560-2182G>C (n.560-2182G>C) c.886G>C (p.Glu296Gln) c.1153G>C (p.Glu385Gln) c.1111G>C (p.Glu371Gln) c.1009G>C (p.Glu337Gln) c.973G>C (p.Glu325Gln) c.814G>C (p.Glu272Gln) | |
| 1 | g.173909675C>T | CA1251293 | SERPINC1 | c.1030G>A (p.Glu344Lys) c.560-2182G>A (n.560-2182G>A) c.886G>A (p.Glu296Lys) c.1153G>A (p.Glu385Lys) c.1111G>A (p.Glu371Lys) c.1009G>A (p.Glu337Lys) c.973G>A (p.Glu325Lys) c.814G>A (p.Glu272Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909676C>A | CA1251294 | SERPINC1 | c.1029G>T (p.Leu343Phe) c.560-2183G>T (n.560-2183G>T) c.885G>T (p.Leu295Phe) c.1152G>T (p.Leu384Phe) c.1110G>T (p.Leu370Phe) c.1008G>T (p.Leu336Phe) c.972G>T (p.Leu324Phe) c.813G>T (p.Leu271Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909676C= | CA1148229704 | SERPINC1 | c.1029G= (p.Leu343=) c.560-2183G= (n.560-2183G=) c.885G= (p.Leu295=) c.1152G= (p.Leu384=) c.1110G= (p.Leu370=) c.1008G= (p.Leu336=) c.972G= (p.Leu324=) c.813G= (p.Leu271=) | |
| 1 | g.173909676C>G | CA343773795 | SERPINC1 | c.1029G>C (p.Leu343Phe) c.560-2183G>C (n.560-2183G>C) c.885G>C (p.Leu295Phe) c.1152G>C (p.Leu384Phe) c.1110G>C (p.Leu370Phe) c.1008G>C (p.Leu336Phe) c.972G>C (p.Leu324Phe) c.813G>C (p.Leu271Phe) | |
| 1 | g.173909676C>T | CA421942905 | SERPINC1 | c.1029G>A (p.Leu343=) c.560-2183G>A (n.560-2183G>A) c.885G>A (p.Leu295=) c.1152G>A (p.Leu384=) c.1110G>A (p.Leu370=) c.1008G>A (p.Leu336=) c.972G>A (p.Leu324=) c.813G>A (p.Leu271=) | |
| 1 | g.173909677A= | CA1207936947 | SERPINC1 | c.1028T= (p.Leu343=) c.560-2184T= (n.560-2184T=) c.884T= (p.Leu295=) c.1151T= (p.Leu384=) c.1109T= (p.Leu370=) c.1007T= (p.Leu336=) c.971T= (p.Leu324=) c.812T= (p.Leu271=) | |
| 1 | g.173909677A>C | CA343773798 | SERPINC1 | c.1028T>G (p.Leu343Trp) c.560-2184T>G (n.560-2184T>G) c.884T>G (p.Leu295Trp) c.1151T>G (p.Leu384Trp) c.1109T>G (p.Leu370Trp) c.1007T>G (p.Leu336Trp) c.971T>G (p.Leu324Trp) c.812T>G (p.Leu271Trp) | |
| 1 | g.173909677A>G | CA343773799 | SERPINC1 | c.1028T>C (p.Leu343Ser) c.560-2184T>C (n.560-2184T>C) c.884T>C (p.Leu295Ser) c.1151T>C (p.Leu384Ser) c.1109T>C (p.Leu370Ser) c.1007T>C (p.Leu336Ser) c.971T>C (p.Leu324Ser) c.812T>C (p.Leu271Ser) | dbSNP gnomAD v4 |
| 1 | g.173909677A>T | CA343773801 | SERPINC1 | c.1028T>A (p.Leu343Ter) c.560-2184T>A (n.560-2184T>A) c.884T>A (p.Leu295Ter) c.1151T>A (p.Leu384Ter) c.1109T>A (p.Leu370Ter) c.1007T>A (p.Leu336Ter) c.971T>A (p.Leu324Ter) c.812T>A (p.Leu271Ter) | |
| 1 | g.173909678A= | CA1207936948 | SERPINC1 | c.1027T= (p.Leu343=) c.560-2185T= (n.560-2185T=) c.883T= (p.Leu295=) c.1150T= (p.Leu384=) c.1108T= (p.Leu370=) c.1006T= (p.Leu336=) c.970T= (p.Leu324=) c.811T= (p.Leu271=) | |
| 1 | g.173909678A>C | CA343773803 | SERPINC1 | c.1027T>G (p.Leu343Val) c.560-2185T>G (n.560-2185T>G) c.883T>G (p.Leu295Val) c.1150T>G (p.Leu384Val) c.1108T>G (p.Leu370Val) c.1006T>G (p.Leu336Val) c.970T>G (p.Leu324Val) c.811T>G (p.Leu271Val) | |
| 1 | g.173909678A>G | CA421942906 | SERPINC1 | c.1027T>C (p.Leu343=) c.560-2185T>C (n.560-2185T>C) c.883T>C (p.Leu295=) c.1150T>C (p.Leu384=) c.1108T>C (p.Leu370=) c.1006T>C (p.Leu336=) c.970T>C (p.Leu324=) c.811T>C (p.Leu271=) | dbSNP gnomAD v4 |
| 1 | g.173909678A>T | CA343773805 | SERPINC1 | c.1027T>A (p.Leu343Met) c.560-2185T>A (n.560-2185T>A) c.883T>A (p.Leu295Met) c.1150T>A (p.Leu384Met) c.1108T>A (p.Leu370Met) c.1006T>A (p.Leu336Met) c.970T>A (p.Leu324Met) c.811T>A (p.Leu271Met) | |
| 1 | g.173909679T>A | CA343773807 | SERPINC1 | c.1026A>T (p.Glu342Asp) c.560-2186A>T (n.560-2186A>T) c.882A>T (p.Glu294Asp) c.1149A>T (p.Glu383Asp) c.1107A>T (p.Glu369Asp) c.1005A>T (p.Glu335Asp) c.969A>T (p.Glu323Asp) c.810A>T (p.Glu270Asp) | |
| 1 | g.173909679T>C | CA421942910 | SERPINC1 | c.1026A>G (p.Glu342=) c.560-2186A>G (n.560-2186A>G) c.882A>G (p.Glu294=) c.1149A>G (p.Glu383=) c.1107A>G (p.Glu369=) c.1005A>G (p.Glu335=) c.969A>G (p.Glu323=) c.810A>G (p.Glu270=) | dbSNP |
| 1 | g.173909679T>G | CA343773808 | SERPINC1 | c.1026A>C (p.Glu342Asp) c.560-2186A>C (n.560-2186A>C) c.882A>C (p.Glu294Asp) c.1149A>C (p.Glu383Asp) c.1107A>C (p.Glu369Asp) c.1005A>C (p.Glu335Asp) c.969A>C (p.Glu323Asp) c.810A>C (p.Glu270Asp) | |
| 1 | g.173909679T= | CA1207936949 | SERPINC1 | c.1026A= (p.Glu342=) c.560-2186A= (n.560-2186A=) c.882A= (p.Glu294=) c.1149A= (p.Glu383=) c.1107A= (p.Glu369=) c.1005A= (p.Glu335=) c.969A= (p.Glu323=) c.810A= (p.Glu270=) | |
| 1 | g.173909680del | CA2586964403 | SERPINC1 | c.1026del (p.Glu342AspfsTer5) c.560-2186del (n.560-2186del) c.882del (p.Glu294AspfsTer5) c.1149del (p.Glu383AspfsTer5) c.1107del (p.Glu369AspfsTer5) c.1005del (p.Glu335AspfsTer5) c.969del (p.Glu323AspfsTer5) c.810del (p.Glu270AspfsTer5) | |
| 1 | g.173909680T>A | CA343773810 | SERPINC1 | c.1025A>T (p.Glu342Val) c.559+2184A>T (n.559+2184A>T) c.881A>T (p.Glu294Val) c.1148A>T (p.Glu383Val) c.1106A>T (p.Glu369Val) c.1004A>T (p.Glu335Val) c.968A>T (p.Glu323Val) c.809A>T (p.Glu270Val) | |
| 1 | g.173909680T>C | CA343773812 | SERPINC1 | c.1025A>G (p.Glu342Gly) c.559+2184A>G (n.559+2184A>G) c.881A>G (p.Glu294Gly) c.1148A>G (p.Glu383Gly) c.1106A>G (p.Glu369Gly) c.1004A>G (p.Glu335Gly) c.968A>G (p.Glu323Gly) c.809A>G (p.Glu270Gly) | |
| 1 | g.173909680T>G | CA343773814 | SERPINC1 | c.1025A>C (p.Glu342Ala) c.559+2184A>C (n.559+2184A>C) c.881A>C (p.Glu294Ala) c.1148A>C (p.Glu383Ala) c.1106A>C (p.Glu369Ala) c.1004A>C (p.Glu335Ala) c.968A>C (p.Glu323Ala) c.809A>C (p.Glu270Ala) | |
| 1 | g.173909680_173909684delinsTCATC | CA1207936950 | SERPINC1 | c.1021_1025delinsGATGA (p.Asp341=) c.559+2180_559+2184delinsGATGA (n.559+2180_559+2184delinsGATGA) c.877_881delinsGATGA (p.Asp293=) c.1144_1148delinsGATGA (p.Asp382=) c.1102_1106delinsGATGA (p.Asp368=) c.1000_1004delinsGATGA (p.Asp334=) c.964_968delinsGATGA (p.Asp322=) c.805_809delinsGATGA (p.Asp269=) | |
| 1 | g.173909681C>A | CA343773816 | SERPINC1 | c.1024G>T (p.Glu342Ter) c.559+2183G>T (n.559+2183G>T) c.880G>T (p.Glu294Ter) c.1147G>T (p.Glu383Ter) c.1105G>T (p.Glu369Ter) c.1003G>T (p.Glu335Ter) c.967G>T (p.Glu323Ter) c.808G>T (p.Glu270Ter) | |
| 1 | g.173909681C= | CA1207936951 | SERPINC1 | c.1024G= (p.Glu342=) c.559+2183G= (n.559+2183G=) c.880G= (p.Glu294=) c.1147G= (p.Glu383=) c.1105G= (p.Glu369=) c.1003G= (p.Glu335=) c.967G= (p.Glu323=) c.808G= (p.Glu270=) | |
| 1 | g.173909681C>G | CA343773818 | SERPINC1 | c.1024G>C (p.Glu342Gln) c.559+2183G>C (n.559+2183G>C) c.880G>C (p.Glu294Gln) c.1147G>C (p.Glu383Gln) c.1105G>C (p.Glu369Gln) c.1003G>C (p.Glu335Gln) c.967G>C (p.Glu323Gln) c.808G>C (p.Glu270Gln) | |
| 1 | g.173909681C>T | CA343773819 | SERPINC1 | c.1024G>A (p.Glu342Lys) c.559+2183G>A (n.559+2183G>A) c.880G>A (p.Glu294Lys) c.1147G>A (p.Glu383Lys) c.1105G>A (p.Glu369Lys) c.1003G>A (p.Glu335Lys) c.967G>A (p.Glu323Lys) c.808G>A (p.Glu270Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909681_173909686del | CA2582301469 | SERPINC1 | c.1019_1024del (p.Leu340_Glu342delinsGln) c.559+2178_559+2183del (n.559+2178_559+2183del) c.875_880del (p.Leu292_Glu294delinsGln) c.1142_1147del (p.Leu381_Glu383delinsGln) c.1100_1105del (p.Leu367_Glu369delinsGln) c.998_1003del (p.Leu333_Glu335delinsGln) c.962_967del (p.Leu321_Glu323delinsGln) c.803_808del (p.Leu268_Glu270delinsGln) | |
| 1 | g.173909681_173909686delinsCATCCA | CA1141581218 | SERPINC1 | c.1019_1024delinsTGGATG (p.Leu340=) c.559+2178_559+2183delinsTGGATG (n.559+2178_559+2183delinsTGGATG) c.875_880delinsTGGATG (p.Leu292=) c.1142_1147delinsTGGATG (p.Leu381=) c.1100_1105delinsTGGATG (p.Leu367=) c.998_1003delinsTGGATG (p.Leu333=) c.962_967delinsTGGATG (p.Leu321=) c.803_808delinsTGGATG (p.Leu268=) | |
| 1 | g.173909683_173909686del | CA210775 | SERPINC1 | c.1021_1024del (p.Asp341AsnfsTer5) c.559+2180_559+2183del (n.559+2180_559+2183del) c.877_880del (p.Asp293AsnfsTer5) c.1144_1147del (p.Asp382AsnfsTer5) c.1102_1105del (p.Asp368AsnfsTer5) c.1000_1003del (p.Asp334AsnfsTer5) c.964_967del (p.Asp322AsnfsTer5) c.805_808del (p.Asp269AsnfsTer5) | ClinVar dbSNP |
| 1 | g.173909682A>C | CA343773823 | SERPINC1 | c.1023T>G (p.Asp341Glu) c.559+2182T>G (n.559+2182T>G) c.879T>G (p.Asp293Glu) c.1146T>G (p.Asp382Glu) c.1104T>G (p.Asp368Glu) c.1002T>G (p.Asp334Glu) c.966T>G (p.Asp322Glu) c.807T>G (p.Asp269Glu) | |
| 1 | g.173909682A>G | CA421942912 | SERPINC1 | c.1023T>C (p.Asp341=) c.559+2182T>C (n.559+2182T>C) c.879T>C (p.Asp293=) c.1146T>C (p.Asp382=) c.1104T>C (p.Asp368=) c.1002T>C (p.Asp334=) c.966T>C (p.Asp322=) c.807T>C (p.Asp269=) | |
| 1 | g.173909682A>T | CA343773824 | SERPINC1 | c.1023T>A (p.Asp341Glu) c.559+2182T>A (n.559+2182T>A) c.879T>A (p.Asp293Glu) c.1146T>A (p.Asp382Glu) c.1104T>A (p.Asp368Glu) c.1002T>A (p.Asp334Glu) c.966T>A (p.Asp322Glu) c.807T>A (p.Asp269Glu) | |
| 1 | g.173909682_173909683del | CA645537736 | SERPINC1 | c.1022_1023del (p.Asp341GlyfsTer17) c.559+2181_559+2182del (n.559+2181_559+2182del) c.878_879del (p.Asp293GlyfsTer17) c.1145_1146del (p.Asp382GlyfsTer17) c.1103_1104del (p.Asp368GlyfsTer17) c.1001_1002del (p.Asp334GlyfsTer17) c.965_966del (p.Asp322GlyfsTer17) c.806_807del (p.Asp269GlyfsTer17) | COSMIC |
| 1 | g.173909683T>A | CA343773827 | SERPINC1 | c.1022A>T (p.Asp341Val) c.559+2181A>T (n.559+2181A>T) c.878A>T (p.Asp293Val) c.1145A>T (p.Asp382Val) c.1103A>T (p.Asp368Val) c.1001A>T (p.Asp334Val) c.965A>T (p.Asp322Val) c.806A>T (p.Asp269Val) | dbSNP gnomAD v4 |
| 1 | g.173909683T>C | CA1251295 | SERPINC1 | c.1022A>G (p.Asp341Gly) c.559+2181A>G (n.559+2181A>G) c.878A>G (p.Asp293Gly) c.1145A>G (p.Asp382Gly) c.1103A>G (p.Asp368Gly) c.1001A>G (p.Asp334Gly) c.965A>G (p.Asp322Gly) c.806A>G (p.Asp269Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909683T>G | CA343773829 | SERPINC1 | c.1022A>C (p.Asp341Ala) c.559+2181A>C (n.559+2181A>C) c.878A>C (p.Asp293Ala) c.1145A>C (p.Asp382Ala) c.1103A>C (p.Asp368Ala) c.1001A>C (p.Asp334Ala) c.965A>C (p.Asp322Ala) c.806A>C (p.Asp269Ala) | |
| 1 | g.173909683T= | CA1207936952 | SERPINC1 | c.1022A= (p.Asp341=) c.559+2181A= (n.559+2181A=) c.878A= (p.Asp293=) c.1145A= (p.Asp382=) c.1103A= (p.Asp368=) c.1001A= (p.Asp334=) c.965A= (p.Asp322=) c.806A= (p.Asp269=) | |
| 1 | g.173909684C>A | CA343773833 | SERPINC1 | c.1021G>T (p.Asp341Tyr) c.559+2180G>T (n.559+2180G>T) c.877G>T (p.Asp293Tyr) c.1144G>T (p.Asp382Tyr) c.1102G>T (p.Asp368Tyr) c.1000G>T (p.Asp334Tyr) c.964G>T (p.Asp322Tyr) c.805G>T (p.Asp269Tyr) | |
| 1 | g.173909684C>G | CA343773835 | SERPINC1 | c.1021G>C (p.Asp341His) c.559+2180G>C (n.559+2180G>C) c.877G>C (p.Asp293His) c.1144G>C (p.Asp382His) c.1102G>C (p.Asp368His) c.1000G>C (p.Asp334His) c.964G>C (p.Asp322His) c.805G>C (p.Asp269His) | |
| 1 | g.173909684C>T | CA343773831 | SERPINC1 | c.1021G>A (p.Asp341Asn) c.559+2180G>A (n.559+2180G>A) c.877G>A (p.Asp293Asn) c.1144G>A (p.Asp382Asn) c.1102G>A (p.Asp368Asn) c.1000G>A (p.Asp334Asn) c.964G>A (p.Asp322Asn) c.805G>A (p.Asp269Asn) | |
| 1 | g.173909685C>A | CA421942914 | SERPINC1 | c.1020G>T (p.Leu340=) c.559+2179G>T (n.559+2179G>T) c.876G>T (p.Leu292=) c.1143G>T (p.Leu381=) c.1101G>T (p.Leu367=) c.999G>T (p.Leu333=) c.963G>T (p.Leu321=) c.804G>T (p.Leu268=) | |
| 1 | g.173909685C>G | CA421942915 | SERPINC1 | c.1020G>C (p.Leu340=) c.559+2179G>C (n.559+2179G>C) c.876G>C (p.Leu292=) c.1143G>C (p.Leu381=) c.1101G>C (p.Leu367=) c.999G>C (p.Leu333=) c.963G>C (p.Leu321=) c.804G>C (p.Leu268=) | |
| 1 | g.173909685C>T | CA421942916 | SERPINC1 | c.1020G>A (p.Leu340=) c.559+2179G>A (n.559+2179G>A) c.876G>A (p.Leu292=) c.1143G>A (p.Leu381=) c.1101G>A (p.Leu367=) c.999G>A (p.Leu333=) c.963G>A (p.Leu321=) c.804G>A (p.Leu268=) | gnomAD v4 |
| 1 | g.173909686A>C | CA343773840 | SERPINC1 | c.1019T>G (p.Leu340Arg) c.559+2178T>G (n.559+2178T>G) c.875T>G (p.Leu292Arg) c.1142T>G (p.Leu381Arg) c.1100T>G (p.Leu367Arg) c.998T>G (p.Leu333Arg) c.962T>G (p.Leu321Arg) c.803T>G (p.Leu268Arg) | |
| 1 | g.173909686A>G | CA343773837 | SERPINC1 | c.1019T>C (p.Leu340Pro) c.559+2178T>C (n.559+2178T>C) c.875T>C (p.Leu292Pro) c.1142T>C (p.Leu381Pro) c.1100T>C (p.Leu367Pro) c.998T>C (p.Leu333Pro) c.962T>C (p.Leu321Pro) c.803T>C (p.Leu268Pro) | |
| 1 | g.173909686A>T | CA343773838 | SERPINC1 | c.1019T>A (p.Leu340Gln) c.559+2178T>A (n.559+2178T>A) c.875T>A (p.Leu292Gln) c.1142T>A (p.Leu381Gln) c.1100T>A (p.Leu367Gln) c.998T>A (p.Leu333Gln) c.962T>A (p.Leu321Gln) c.803T>A (p.Leu268Gln) | |
| 1 | g.173909687G>A | CA421942917 | SERPINC1 | c.1018C>T (p.Leu340=) c.559+2177C>T (n.559+2177C>T) c.874C>T (p.Leu292=) c.1141C>T (p.Leu381=) c.1099C>T (p.Leu367=) c.997C>T (p.Leu333=) c.961C>T (p.Leu321=) c.802C>T (p.Leu268=) | dbSNP gnomAD v2 COSMIC |
| 1 | g.173909687G>C | CA343773842 | SERPINC1 | c.1018C>G (p.Leu340Val) c.559+2177C>G (n.559+2177C>G) c.874C>G (p.Leu292Val) c.1141C>G (p.Leu381Val) c.1099C>G (p.Leu367Val) c.997C>G (p.Leu333Val) c.961C>G (p.Leu321Val) c.802C>G (p.Leu268Val) | |
| 1 | g.173909687G= | CA1207936953 | SERPINC1 | c.1018C= (p.Leu340=) c.559+2177C= (n.559+2177C=) c.874C= (p.Leu292=) c.1141C= (p.Leu381=) c.1099C= (p.Leu367=) c.997C= (p.Leu333=) c.961C= (p.Leu321=) c.802C= (p.Leu268=) | |
| 1 | g.173909687G>T | CA343773844 | SERPINC1 | c.1018C>A (p.Leu340Met) c.559+2177C>A (n.559+2177C>A) c.874C>A (p.Leu292Met) c.1141C>A (p.Leu381Met) c.1099C>A (p.Leu367Met) c.997C>A (p.Leu333Met) c.961C>A (p.Leu321Met) c.802C>A (p.Leu268Met) | |
| 1 | g.173909688C>A | CA343773846 | SERPINC1 | c.1017G>T (p.Trp339Cys) c.559+2176G>T (n.559+2176G>T) c.873G>T (p.Trp291Cys) c.1140G>T (p.Trp380Cys) c.1098G>T (p.Trp366Cys) c.996G>T (p.Trp332Cys) c.960G>T (p.Trp320Cys) c.801G>T (p.Trp267Cys) | |
| 1 | g.173909688C>G | CA343773848 | SERPINC1 | c.1017G>C (p.Trp339Cys) c.559+2176G>C (n.559+2176G>C) c.873G>C (p.Trp291Cys) c.1140G>C (p.Trp380Cys) c.1098G>C (p.Trp366Cys) c.996G>C (p.Trp332Cys) c.960G>C (p.Trp320Cys) c.801G>C (p.Trp267Cys) | |
| 1 | g.173909688C>T | CA343773850 | SERPINC1 | c.1017G>A (p.Trp339Ter) c.559+2176G>A (n.559+2176G>A) c.873G>A (p.Trp291Ter) c.1140G>A (p.Trp380Ter) c.1098G>A (p.Trp366Ter) c.996G>A (p.Trp332Ter) c.960G>A (p.Trp320Ter) c.801G>A (p.Trp267Ter) | |
| 1 | g.173909689C>A | CA343773855 | SERPINC1 | c.1016G>T (p.Trp339Leu) c.559+2175G>T (n.559+2175G>T) c.872G>T (p.Trp291Leu) c.1139G>T (p.Trp380Leu) c.1097G>T (p.Trp366Leu) c.995G>T (p.Trp332Leu) c.959G>T (p.Trp320Leu) c.800G>T (p.Trp267Leu) | |
| 1 | g.173909689C= | CA1144233205 | SERPINC1 | c.1016G= (p.Trp339=) c.559+2175G= (n.559+2175G=) c.872G= (p.Trp291=) c.1139G= (p.Trp380=) c.1097G= (p.Trp366=) c.995G= (p.Trp332=) c.959G= (p.Trp320=) c.800G= (p.Trp267=) | |
| 1 | g.173909689C>G | CA343773852 | SERPINC1 | c.1016G>C (p.Trp339Ser) c.559+2175G>C (n.559+2175G>C) c.872G>C (p.Trp291Ser) c.1139G>C (p.Trp380Ser) c.1097G>C (p.Trp366Ser) c.995G>C (p.Trp332Ser) c.959G>C (p.Trp320Ser) c.800G>C (p.Trp267Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909689C>T | CA150667 | SERPINC1 | c.1016G>A (p.Trp339Ter) c.559+2175G>A (n.559+2175G>A) c.872G>A (p.Trp291Ter) c.1139G>A (p.Trp380Ter) c.1097G>A (p.Trp366Ter) c.995G>A (p.Trp332Ter) c.959G>A (p.Trp320Ter) c.800G>A (p.Trp267Ter) | ClinVar dbSNP |