| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173904009_173904011del | CA2499214318 | SERPINC1 | c.1273_1275del (p.Arg425del) c.658_660del (p.Arg220del) c.1129_1131del (p.Arg377del) c.1396_1398del (p.Arg466del) c.1354_1356del (p.Arg452del) c.1252_1254del (p.Arg418del) c.1216_1218del (p.Arg406del) c.1057_1059del (p.Arg353del) | ClinVar dbSNP |
| 1 | g.173904011_173904013del | CA2586967709 | SERPINC1 | c.1272_1274del (p.Arg425del) c.657_659del (p.Arg220del) c.1128_1130del (p.Arg377del) c.1395_1397del (p.Arg466del) c.1353_1355del (p.Arg452del) c.1251_1253del (p.Arg418del) c.1215_1217del (p.Arg406del) c.1056_1058del (p.Arg353del) | |
| 1 | g.173904011G>A | CA210762 | SERPINC1 | c.1273C>T (p.Arg425Cys) c.658C>T (p.Arg220Cys) c.1129C>T (p.Arg377Cys) c.1396C>T (p.Arg466Cys) c.1354C>T (p.Arg452Cys) c.1252C>T (p.Arg418Cys) c.1216C>T (p.Arg406Cys) c.1057C>T (p.Arg353Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904011G>C | CA343772595 | SERPINC1 | c.1273C>G (p.Arg425Gly) c.658C>G (p.Arg220Gly) c.1129C>G (p.Arg377Gly) c.1396C>G (p.Arg466Gly) c.1354C>G (p.Arg452Gly) c.1252C>G (p.Arg418Gly) c.1216C>G (p.Arg406Gly) c.1057C>G (p.Arg353Gly) | |
| 1 | g.173904011G= | CA1141581236 | SERPINC1 | c.1273C= (p.Arg425=) c.658C= (p.Arg220=) c.1129C= (p.Arg377=) c.1396C= (p.Arg466=) c.1354C= (p.Arg452=) c.1252C= (p.Arg418=) c.1216C= (p.Arg406=) c.1057C= (p.Arg353=) | |
| 1 | g.173904011G>T | CA343772596 | SERPINC1 | c.1273C>A (p.Arg425Ser) c.658C>A (p.Arg220Ser) c.1129C>A (p.Arg377Ser) c.1396C>A (p.Arg466Ser) c.1354C>A (p.Arg452Ser) c.1252C>A (p.Arg418Ser) c.1216C>A (p.Arg406Ser) c.1057C>A (p.Arg353Ser) | |
| 1 | g.173904012G>A | CA421821562 | SERPINC1 | c.1272C>T (p.Gly424=) c.657C>T (p.Gly219=) c.1128C>T (p.Gly376=) c.1395C>T (p.Gly465=) c.1353C>T (p.Gly451=) c.1251C>T (p.Gly417=) c.1215C>T (p.Gly405=) c.1056C>T (p.Gly352=) | |
| 1 | g.173904012G>C | CA421821563 | SERPINC1 | c.1272C>G (p.Gly424=) c.657C>G (p.Gly219=) c.1128C>G (p.Gly376=) c.1395C>G (p.Gly465=) c.1353C>G (p.Gly451=) c.1251C>G (p.Gly417=) c.1215C>G (p.Gly405=) c.1056C>G (p.Gly352=) | |
| 1 | g.173904012G= | CA1207934385 | SERPINC1 | c.1272C= (p.Gly424=) c.657C= (p.Gly219=) c.1128C= (p.Gly376=) c.1395C= (p.Gly465=) c.1353C= (p.Gly451=) c.1251C= (p.Gly417=) c.1215C= (p.Gly405=) c.1056C= (p.Gly352=) | |
| 1 | g.173904012G>T | CA1251222 | SERPINC1 | c.1272C>A (p.Gly424=) c.657C>A (p.Gly219=) c.1128C>A (p.Gly376=) c.1395C>A (p.Gly465=) c.1353C>A (p.Gly451=) c.1251C>A (p.Gly417=) c.1215C>A (p.Gly405=) c.1056C>A (p.Gly352=) | dbSNP ExAC gnomAD v2 |
| 1 | g.173904013C>A | CA343772597 | SERPINC1 | c.1271G>T (p.Gly424Val) c.656G>T (p.Gly219Val) c.1127G>T (p.Gly376Val) c.1394G>T (p.Gly465Val) c.1352G>T (p.Gly451Val) c.1250G>T (p.Gly417Val) c.1214G>T (p.Gly405Val) c.1055G>T (p.Gly352Val) | |
| 1 | g.173904013C= | CA1141581237 | SERPINC1 | c.1271G= (p.Gly424=) c.656G= (p.Gly219=) c.1127G= (p.Gly376=) c.1394G= (p.Gly465=) c.1352G= (p.Gly451=) c.1250G= (p.Gly417=) c.1214G= (p.Gly405=) c.1055G= (p.Gly352=) | |
| 1 | g.173904013C>G | CA343772598 | SERPINC1 | c.1271G>C (p.Gly424Ala) c.656G>C (p.Gly219Ala) c.1127G>C (p.Gly376Ala) c.1394G>C (p.Gly465Ala) c.1352G>C (p.Gly451Ala) c.1250G>C (p.Gly417Ala) c.1214G>C (p.Gly405Ala) c.1055G>C (p.Gly352Ala) | |
| 1 | g.173904013C>T | CA210785 | SERPINC1 | c.1271G>A (p.Gly424Asp) c.656G>A (p.Gly219Asp) c.1127G>A (p.Gly376Asp) c.1394G>A (p.Gly465Asp) c.1352G>A (p.Gly451Asp) c.1250G>A (p.Gly417Asp) c.1214G>A (p.Gly405Asp) c.1055G>A (p.Gly352Asp) | ClinVar dbSNP |
| 1 | g.173904014C>A | CA343772599 | SERPINC1 | c.1270G>T (p.Gly424Cys) c.655G>T (p.Gly219Cys) c.1126G>T (p.Gly376Cys) c.1393G>T (p.Gly465Cys) c.1351G>T (p.Gly451Cys) c.1249G>T (p.Gly417Cys) c.1213G>T (p.Gly405Cys) c.1054G>T (p.Gly352Cys) | |
| 1 | g.173904014C>G | CA343772600 | SERPINC1 | c.1270G>C (p.Gly424Arg) c.655G>C (p.Gly219Arg) c.1126G>C (p.Gly376Arg) c.1393G>C (p.Gly465Arg) c.1351G>C (p.Gly451Arg) c.1249G>C (p.Gly417Arg) c.1213G>C (p.Gly405Arg) c.1054G>C (p.Gly352Arg) | |
| 1 | g.173904014C>T | CA343772601 | SERPINC1 | c.1270G>A (p.Gly424Ser) c.655G>A (p.Gly219Ser) c.1126G>A (p.Gly376Ser) c.1393G>A (p.Gly465Ser) c.1351G>A (p.Gly451Ser) c.1249G>A (p.Gly417Ser) c.1213G>A (p.Gly405Ser) c.1054G>A (p.Gly352Ser) | |
| 1 | g.173904015A>C | CA421821568 | SERPINC1 | c.1269T>G (p.Ala423=) c.654T>G (p.Ala218=) c.1125T>G (p.Ala375=) c.1392T>G (p.Ala464=) c.1350T>G (p.Ala450=) c.1248T>G (p.Ala416=) c.1212T>G (p.Ala404=) c.1053T>G (p.Ala351=) | |
| 1 | g.173904015A>G | CA421821569 | SERPINC1 | c.1269T>C (p.Ala423=) c.654T>C (p.Ala218=) c.1125T>C (p.Ala375=) c.1392T>C (p.Ala464=) c.1350T>C (p.Ala450=) c.1248T>C (p.Ala416=) c.1212T>C (p.Ala404=) c.1053T>C (p.Ala351=) | |
| 1 | g.173904015A>T | CA421821570 | SERPINC1 | c.1269T>A (p.Ala423=) c.654T>A (p.Ala218=) c.1125T>A (p.Ala375=) c.1392T>A (p.Ala464=) c.1350T>A (p.Ala450=) c.1248T>A (p.Ala416=) c.1212T>A (p.Ala404=) c.1053T>A (p.Ala351=) | |
| 1 | g.173904016G>A | CA343772602 | SERPINC1 | c.1268C>T (p.Ala423Val) c.653C>T (p.Ala218Val) c.1124C>T (p.Ala375Val) c.1391C>T (p.Ala464Val) c.1349C>T (p.Ala450Val) c.1247C>T (p.Ala416Val) c.1211C>T (p.Ala404Val) c.1052C>T (p.Ala351Val) | |
| 1 | g.173904016G>C | CA343772603 | SERPINC1 | c.1268C>G (p.Ala423Gly) c.653C>G (p.Ala218Gly) c.1124C>G (p.Ala375Gly) c.1391C>G (p.Ala464Gly) c.1349C>G (p.Ala450Gly) c.1247C>G (p.Ala416Gly) c.1211C>G (p.Ala404Gly) c.1052C>G (p.Ala351Gly) | |
| 1 | g.173904016G>T | CA343772604 | SERPINC1 | c.1268C>A (p.Ala423Asp) c.653C>A (p.Ala218Asp) c.1124C>A (p.Ala375Asp) c.1391C>A (p.Ala464Asp) c.1349C>A (p.Ala450Asp) c.1247C>A (p.Ala416Asp) c.1211C>A (p.Ala404Asp) c.1052C>A (p.Ala351Asp) | |
| 1 | g.173904017C>A | CA343772605 | SERPINC1 | c.1267G>T (p.Ala423Ser) c.652G>T (p.Ala218Ser) c.1123G>T (p.Ala375Ser) c.1390G>T (p.Ala464Ser) c.1348G>T (p.Ala450Ser) c.1246G>T (p.Ala416Ser) c.1210G>T (p.Ala404Ser) c.1051G>T (p.Ala351Ser) | |
| 1 | g.173904017C= | CA1207934386 | SERPINC1 | c.1267G= (p.Ala423=) c.652G= (p.Ala218=) c.1123G= (p.Ala375=) c.1390G= (p.Ala464=) c.1348G= (p.Ala450=) c.1246G= (p.Ala416=) c.1210G= (p.Ala404=) c.1051G= (p.Ala351=) | |
| 1 | g.173904017C>G | CA343772606 | SERPINC1 | c.1267G>C (p.Ala423Pro) c.652G>C (p.Ala218Pro) c.1123G>C (p.Ala375Pro) c.1390G>C (p.Ala464Pro) c.1348G>C (p.Ala450Pro) c.1246G>C (p.Ala416Pro) c.1210G>C (p.Ala404Pro) c.1051G>C (p.Ala351Pro) | |
| 1 | g.173904017C>T | CA32777281 | SERPINC1 | c.1267G>A (p.Ala423Thr) c.652G>A (p.Ala218Thr) c.1123G>A (p.Ala375Thr) c.1390G>A (p.Ala464Thr) c.1348G>A (p.Ala450Thr) c.1246G>A (p.Ala416Thr) c.1210G>A (p.Ala404Thr) c.1051G>A (p.Ala351Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173904018A= | CA1207934387 | SERPINC1 | c.1266T= (p.Ile422=) c.651T= (p.Ile217=) c.1122T= (p.Ile374=) c.1389T= (p.Ile463=) c.1347T= (p.Ile449=) c.1245T= (p.Ile415=) c.1209T= (p.Ile403=) c.1050T= (p.Ile350=) | |
| 1 | g.173904018A>C | CA343772607 | SERPINC1 | c.1266T>G (p.Ile422Met) c.651T>G (p.Ile217Met) c.1122T>G (p.Ile374Met) c.1389T>G (p.Ile463Met) c.1347T>G (p.Ile449Met) c.1245T>G (p.Ile415Met) c.1209T>G (p.Ile403Met) c.1050T>G (p.Ile350Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173904018A>G | CA421821573 | SERPINC1 | c.1266T>C (p.Ile422=) c.651T>C (p.Ile217=) c.1122T>C (p.Ile374=) c.1389T>C (p.Ile463=) c.1347T>C (p.Ile449=) c.1245T>C (p.Ile415=) c.1209T>C (p.Ile403=) c.1050T>C (p.Ile350=) | |
| 1 | g.173904018A>T | CA421821574 | SERPINC1 | c.1266T>A (p.Ile422=) c.651T>A (p.Ile217=) c.1122T>A (p.Ile374=) c.1389T>A (p.Ile463=) c.1347T>A (p.Ile449=) c.1245T>A (p.Ile415=) c.1209T>A (p.Ile403=) c.1050T>A (p.Ile350=) | |
| 1 | g.173904019A= | CA1207934388 | SERPINC1 | c.1265T= (p.Ile422=) c.650T= (p.Ile217=) c.1121T= (p.Ile374=) c.1388T= (p.Ile463=) c.1346T= (p.Ile449=) c.1244T= (p.Ile415=) c.1208T= (p.Ile403=) c.1049T= (p.Ile350=) | |
| 1 | g.173904019A>C | CA343772608 | SERPINC1 | c.1265T>G (p.Ile422Ser) c.650T>G (p.Ile217Ser) c.1121T>G (p.Ile374Ser) c.1388T>G (p.Ile463Ser) c.1346T>G (p.Ile449Ser) c.1244T>G (p.Ile415Ser) c.1208T>G (p.Ile403Ser) c.1049T>G (p.Ile350Ser) | |
| 1 | g.173904019A>G | CA1251223 | SERPINC1 | c.1265T>C (p.Ile422Thr) c.650T>C (p.Ile217Thr) c.1121T>C (p.Ile374Thr) c.1388T>C (p.Ile463Thr) c.1346T>C (p.Ile449Thr) c.1244T>C (p.Ile415Thr) c.1208T>C (p.Ile403Thr) c.1049T>C (p.Ile350Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904019A>T | CA343772609 | SERPINC1 | c.1265T>A (p.Ile422Asn) c.650T>A (p.Ile217Asn) c.1121T>A (p.Ile374Asn) c.1388T>A (p.Ile463Asn) c.1346T>A (p.Ile449Asn) c.1244T>A (p.Ile415Asn) c.1208T>A (p.Ile403Asn) c.1049T>A (p.Ile350Asn) | |
| 1 | g.173904020del | CA2586967710 | SERPINC1 | c.1264del (p.Ile422LeufsTer6) c.649del (p.Ile217LeufsTer6) c.1120del (p.Ile374LeufsTer6) c.1387del (p.Ile463LeufsTer6) c.1345del (p.Ile449LeufsTer6) c.1243del (p.Ile415LeufsTer6) c.1207del (p.Ile403LeufsTer6) c.1048del (p.Ile350LeufsTer6) | |
| 1 | g.173904020T>A | CA343772612 | SERPINC1 | c.1264A>T (p.Ile422Phe) c.649A>T (p.Ile217Phe) c.1120A>T (p.Ile374Phe) c.1387A>T (p.Ile463Phe) c.1345A>T (p.Ile449Phe) c.1243A>T (p.Ile415Phe) c.1207A>T (p.Ile403Phe) c.1048A>T (p.Ile350Phe) | |
| 1 | g.173904020T>C | CA343772611 | SERPINC1 | c.1264A>G (p.Ile422Val) c.649A>G (p.Ile217Val) c.1120A>G (p.Ile374Val) c.1387A>G (p.Ile463Val) c.1345A>G (p.Ile449Val) c.1243A>G (p.Ile415Val) c.1207A>G (p.Ile403Val) c.1048A>G (p.Ile350Val) | |
| 1 | g.173904020T>G | CA343772610 | SERPINC1 | c.1264A>C (p.Ile422Leu) c.649A>C (p.Ile217Leu) c.1120A>C (p.Ile374Leu) c.1387A>C (p.Ile463Leu) c.1345A>C (p.Ile449Leu) c.1243A>C (p.Ile415Leu) c.1207A>C (p.Ile403Leu) c.1048A>C (p.Ile350Leu) | |
| 1 | g.173904021C>A | CA421821576 | SERPINC1 | c.1263G>T (p.Val421=) c.648G>T (p.Val216=) c.1119G>T (p.Val373=) c.1386G>T (p.Val462=) c.1344G>T (p.Val448=) c.1242G>T (p.Val414=) c.1206G>T (p.Val402=) c.1047G>T (p.Val349=) | |
| 1 | g.173904021C>G | CA421821577 | SERPINC1 | c.1263G>C (p.Val421=) c.648G>C (p.Val216=) c.1119G>C (p.Val373=) c.1386G>C (p.Val462=) c.1344G>C (p.Val448=) c.1242G>C (p.Val414=) c.1206G>C (p.Val402=) c.1047G>C (p.Val349=) | |
| 1 | g.173904021C>T | CA421821578 | SERPINC1 | c.1263G>A (p.Val421=) c.648G>A (p.Val216=) c.1119G>A (p.Val373=) c.1386G>A (p.Val462=) c.1344G>A (p.Val448=) c.1242G>A (p.Val414=) c.1206G>A (p.Val402=) c.1047G>A (p.Val349=) | gnomAD v4 |
| 1 | g.173904022A>C | CA343772613 | SERPINC1 | c.1262T>G (p.Val421Gly) c.647T>G (p.Val216Gly) c.1118T>G (p.Val373Gly) c.1385T>G (p.Val462Gly) c.1343T>G (p.Val448Gly) c.1241T>G (p.Val414Gly) c.1205T>G (p.Val402Gly) c.1046T>G (p.Val349Gly) | |
| 1 | g.173904022A>G | CA343772615 | SERPINC1 | c.1262T>C (p.Val421Ala) c.647T>C (p.Val216Ala) c.1118T>C (p.Val373Ala) c.1385T>C (p.Val462Ala) c.1343T>C (p.Val448Ala) c.1241T>C (p.Val414Ala) c.1205T>C (p.Val402Ala) c.1046T>C (p.Val349Ala) | |
| 1 | g.173904022A>T | CA343772614 | SERPINC1 | c.1262T>A (p.Val421Glu) c.647T>A (p.Val216Glu) c.1118T>A (p.Val373Glu) c.1385T>A (p.Val462Glu) c.1343T>A (p.Val448Glu) c.1241T>A (p.Val414Glu) c.1205T>A (p.Val402Glu) c.1046T>A (p.Val349Glu) | |
| 1 | g.173904023C>A | CA343772616 | SERPINC1 | c.1261G>T (p.Val421Leu) c.646G>T (p.Val216Leu) c.1117G>T (p.Val373Leu) c.1384G>T (p.Val462Leu) c.1342G>T (p.Val448Leu) c.1240G>T (p.Val414Leu) c.1204G>T (p.Val402Leu) c.1045G>T (p.Val349Leu) | gnomAD v4 |
| 1 | g.173904023C= | CA1207934389 | SERPINC1 | c.1261G= (p.Val421=) c.646G= (p.Val216=) c.1117G= (p.Val373=) c.1384G= (p.Val462=) c.1342G= (p.Val448=) c.1240G= (p.Val414=) c.1204G= (p.Val402=) c.1045G= (p.Val349=) | |
| 1 | g.173904023C>G | CA343772618 | SERPINC1 | c.1261G>C (p.Val421Leu) c.646G>C (p.Val216Leu) c.1117G>C (p.Val373Leu) c.1384G>C (p.Val462Leu) c.1342G>C (p.Val448Leu) c.1240G>C (p.Val414Leu) c.1204G>C (p.Val402Leu) c.1045G>C (p.Val349Leu) | gnomAD v4 |
| 1 | g.173904023C>T | CA343772617 | SERPINC1 | c.1261G>A (p.Val421Met) c.646G>A (p.Val216Met) c.1117G>A (p.Val373Met) c.1384G>A (p.Val462Met) c.1342G>A (p.Val448Met) c.1240G>A (p.Val414Met) c.1204G>A (p.Val402Met) c.1045G>A (p.Val349Met) | |
| 1 | g.173904024A>C | CA421821581 | SERPINC1 | c.1260T>G (p.Val420=) c.645T>G (p.Val215=) c.1116T>G (p.Val372=) c.1383T>G (p.Val461=) c.1341T>G (p.Val447=) c.1239T>G (p.Val413=) c.1203T>G (p.Val401=) c.1044T>G (p.Val348=) |