| 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.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.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.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) | 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) | |
| 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 |