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.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.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.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=) |