UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173903980T>A | CA343772431 | SERPINC1 | c.1304A>T (p.Lys435Met) c.689A>T (p.Lys230Met) c.1160A>T (p.Lys387Met) c.1427A>T (p.Lys476Met) c.1385A>T (p.Lys462Met) c.1283A>T (p.Lys428Met) c.1247A>T (p.Lys416Met) c.1088A>T (p.Lys363Met) | |
| 1 | g.173903980T>C | CA343772434 | SERPINC1 | c.1304A>G (p.Lys435Arg) c.689A>G (p.Lys230Arg) c.1160A>G (p.Lys387Arg) c.1427A>G (p.Lys476Arg) c.1385A>G (p.Lys462Arg) c.1283A>G (p.Lys428Arg) c.1247A>G (p.Lys416Arg) c.1088A>G (p.Lys363Arg) | |
| 1 | g.173903980T>G | CA343772437 | SERPINC1 | c.1304A>C (p.Lys435Thr) c.689A>C (p.Lys230Thr) c.1160A>C (p.Lys387Thr) c.1427A>C (p.Lys476Thr) c.1385A>C (p.Lys462Thr) c.1283A>C (p.Lys428Thr) c.1247A>C (p.Lys416Thr) c.1088A>C (p.Lys363Thr) | |
| 1 | g.173903981T>A | CA343772440 | SERPINC1 | c.1303A>T (p.Lys435Ter) c.688A>T (p.Lys230Ter) c.1159A>T (p.Lys387Ter) c.1426A>T (p.Lys476Ter) c.1384A>T (p.Lys462Ter) c.1282A>T (p.Lys428Ter) c.1246A>T (p.Lys416Ter) c.1087A>T (p.Lys363Ter) | |
| 1 | g.173903981T>C | CA343772442 | SERPINC1 | c.1303A>G (p.Lys435Glu) c.688A>G (p.Lys230Glu) c.1159A>G (p.Lys387Glu) c.1426A>G (p.Lys476Glu) c.1384A>G (p.Lys462Glu) c.1282A>G (p.Lys428Glu) c.1246A>G (p.Lys416Glu) c.1087A>G (p.Lys363Glu) | |
| 1 | g.173903981T>G | CA343772444 | SERPINC1 | c.1303A>C (p.Lys435Gln) c.688A>C (p.Lys230Gln) c.1159A>C (p.Lys387Gln) c.1426A>C (p.Lys476Gln) c.1384A>C (p.Lys462Gln) c.1282A>C (p.Lys428Gln) c.1246A>C (p.Lys416Gln) c.1087A>C (p.Lys363Gln) | |
| 1 | g.173903982G>A | CA421821506 | SERPINC1 | c.1302C>T (p.Phe434=) c.687C>T (p.Phe229=) c.1158C>T (p.Phe386=) c.1425C>T (p.Phe475=) c.1383C>T (p.Phe461=) c.1281C>T (p.Phe427=) c.1245C>T (p.Phe415=) c.1086C>T (p.Phe362=) | |
| 1 | g.173903982G>C | CA343772449 | SERPINC1 | c.1302C>G (p.Phe434Leu) c.687C>G (p.Phe229Leu) c.1158C>G (p.Phe386Leu) c.1425C>G (p.Phe475Leu) c.1383C>G (p.Phe461Leu) c.1281C>G (p.Phe427Leu) c.1245C>G (p.Phe415Leu) c.1086C>G (p.Phe362Leu) | COSMIC |
| 1 | g.173903982G>T | CA343772447 | SERPINC1 | c.1302C>A (p.Phe434Leu) c.687C>A (p.Phe229Leu) c.1158C>A (p.Phe386Leu) c.1425C>A (p.Phe475Leu) c.1383C>A (p.Phe461Leu) c.1281C>A (p.Phe427Leu) c.1245C>A (p.Phe415Leu) c.1086C>A (p.Phe362Leu) | ClinVar gnomAD v4 |
| 1 | g.173903983A= | CA1207934378 | SERPINC1 | c.1301T= (p.Phe434=) c.686T= (p.Phe229=) c.1157T= (p.Phe386=) c.1424T= (p.Phe475=) c.1382T= (p.Phe461=) c.1280T= (p.Phe427=) c.1244T= (p.Phe415=) c.1085T= (p.Phe362=) | |
| 1 | g.173903983A>C | CA343772451 | SERPINC1 | c.1301T>G (p.Phe434Cys) c.686T>G (p.Phe229Cys) c.1157T>G (p.Phe386Cys) c.1424T>G (p.Phe475Cys) c.1382T>G (p.Phe461Cys) c.1280T>G (p.Phe427Cys) c.1244T>G (p.Phe415Cys) c.1085T>G (p.Phe362Cys) | ClinVar dbSNP |
| 1 | g.173903983A>G | CA343772453 | SERPINC1 | c.1301T>C (p.Phe434Ser) c.686T>C (p.Phe229Ser) c.1157T>C (p.Phe386Ser) c.1424T>C (p.Phe475Ser) c.1382T>C (p.Phe461Ser) c.1280T>C (p.Phe427Ser) c.1244T>C (p.Phe415Ser) c.1085T>C (p.Phe362Ser) | |
| 1 | g.173903983A>T | CA343772455 | SERPINC1 | c.1301T>A (p.Phe434Tyr) c.686T>A (p.Phe229Tyr) c.1157T>A (p.Phe386Tyr) c.1424T>A (p.Phe475Tyr) c.1382T>A (p.Phe461Tyr) c.1280T>A (p.Phe427Tyr) c.1244T>A (p.Phe415Tyr) c.1085T>A (p.Phe362Tyr) | |
| 1 | g.173903984A= | CA1207934379 | SERPINC1 | c.1300T= (p.Phe434=) c.685T= (p.Phe229=) c.1156T= (p.Phe386=) c.1423T= (p.Phe475=) c.1381T= (p.Phe461=) c.1279T= (p.Phe427=) c.1243T= (p.Phe415=) c.1084T= (p.Phe362=) | |
| 1 | g.173903984A>C | CA343772459 | SERPINC1 | c.1300T>G (p.Phe434Val) c.685T>G (p.Phe229Val) c.1156T>G (p.Phe386Val) c.1423T>G (p.Phe475Val) c.1381T>G (p.Phe461Val) c.1279T>G (p.Phe427Val) c.1243T>G (p.Phe415Val) c.1084T>G (p.Phe362Val) | dbSNP gnomAD v2 |
| 1 | g.173903984A>G | CA343772461 | SERPINC1 | c.1300T>C (p.Phe434Leu) c.685T>C (p.Phe229Leu) c.1156T>C (p.Phe386Leu) c.1423T>C (p.Phe475Leu) c.1381T>C (p.Phe461Leu) c.1279T>C (p.Phe427Leu) c.1243T>C (p.Phe415Leu) c.1084T>C (p.Phe362Leu) | |
| 1 | g.173903984A>T | CA343772463 | SERPINC1 | c.1300T>A (p.Phe434Ile) c.685T>A (p.Phe229Ile) c.1156T>A (p.Phe386Ile) c.1423T>A (p.Phe475Ile) c.1381T>A (p.Phe461Ile) c.1279T>A (p.Phe427Ile) c.1243T>A (p.Phe415Ile) c.1084T>A (p.Phe362Ile) | |
| 1 | g.173903985A>C | CA421821510 | SERPINC1 | c.1299T>G (p.Thr433=) c.684T>G (p.Thr228=) c.1155T>G (p.Thr385=) c.1422T>G (p.Thr474=) c.1380T>G (p.Thr460=) c.1278T>G (p.Thr426=) c.1242T>G (p.Thr414=) c.1083T>G (p.Thr361=) | |
| 1 | g.173903985A>G | CA421821511 | SERPINC1 | c.1299T>C (p.Thr433=) c.684T>C (p.Thr228=) c.1155T>C (p.Thr385=) c.1422T>C (p.Thr474=) c.1380T>C (p.Thr460=) c.1278T>C (p.Thr426=) c.1242T>C (p.Thr414=) c.1083T>C (p.Thr361=) | |
| 1 | g.173903985A>T | CA421821512 | SERPINC1 | c.1299T>A (p.Thr433=) c.684T>A (p.Thr228=) c.1155T>A (p.Thr385=) c.1422T>A (p.Thr474=) c.1380T>A (p.Thr460=) c.1278T>A (p.Thr426=) c.1242T>A (p.Thr414=) c.1083T>A (p.Thr361=) | |
| 1 | g.173903986G>A | CA343772467 | SERPINC1 | c.1298C>T (p.Thr433Ile) c.683C>T (p.Thr228Ile) c.1154C>T (p.Thr385Ile) c.1421C>T (p.Thr474Ile) c.1379C>T (p.Thr460Ile) c.1277C>T (p.Thr426Ile) c.1241C>T (p.Thr414Ile) c.1082C>T (p.Thr361Ile) | |
| 1 | g.173903986G>C | CA343772472 | SERPINC1 | c.1298C>G (p.Thr433Ser) c.683C>G (p.Thr228Ser) c.1154C>G (p.Thr385Ser) c.1421C>G (p.Thr474Ser) c.1379C>G (p.Thr460Ser) c.1277C>G (p.Thr426Ser) c.1241C>G (p.Thr414Ser) c.1082C>G (p.Thr361Ser) | COSMIC |
| 1 | g.173903986G>T | CA343772470 | SERPINC1 | c.1298C>A (p.Thr433Asn) c.683C>A (p.Thr228Asn) c.1154C>A (p.Thr385Asn) c.1421C>A (p.Thr474Asn) c.1379C>A (p.Thr460Asn) c.1277C>A (p.Thr426Asn) c.1241C>A (p.Thr414Asn) c.1082C>A (p.Thr361Asn) | gnomAD v4 |
| 1 | g.173903987T>A | CA343772473 | SERPINC1 | c.1297A>T (p.Thr433Ser) c.682A>T (p.Thr228Ser) c.1153A>T (p.Thr385Ser) c.1420A>T (p.Thr474Ser) c.1378A>T (p.Thr460Ser) c.1276A>T (p.Thr426Ser) c.1240A>T (p.Thr414Ser) c.1081A>T (p.Thr361Ser) | |
| 1 | g.173903987T>C | CA343772475 | SERPINC1 | c.1297A>G (p.Thr433Ala) c.682A>G (p.Thr228Ala) c.1153A>G (p.Thr385Ala) c.1420A>G (p.Thr474Ala) c.1378A>G (p.Thr460Ala) c.1276A>G (p.Thr426Ala) c.1240A>G (p.Thr414Ala) c.1081A>G (p.Thr361Ala) | |
| 1 | g.173903987T>G | CA343772477 | SERPINC1 | c.1297A>C (p.Thr433Pro) c.682A>C (p.Thr228Pro) c.1153A>C (p.Thr385Pro) c.1420A>C (p.Thr474Pro) c.1378A>C (p.Thr460Pro) c.1276A>C (p.Thr426Pro) c.1240A>C (p.Thr414Pro) c.1081A>C (p.Thr361Pro) | |
| 1 | g.173903988C>A | CA421821514 | SERPINC1 | c.1296G>T (p.Val432=) c.681G>T (p.Val227=) c.1152G>T (p.Val384=) c.1419G>T (p.Val473=) c.1377G>T (p.Val459=) c.1275G>T (p.Val425=) c.1239G>T (p.Val413=) c.1080G>T (p.Val360=) | gnomAD v4 |
| 1 | g.173903988C= | CA1207934380 | SERPINC1 | c.1296G= (p.Val432=) c.681G= (p.Val227=) c.1152G= (p.Val384=) c.1419G= (p.Val473=) c.1377G= (p.Val459=) c.1275G= (p.Val425=) c.1239G= (p.Val413=) c.1080G= (p.Val360=) | |
| 1 | g.173903988C>G | CA421821516 | SERPINC1 | c.1296G>C (p.Val432=) c.681G>C (p.Val227=) c.1152G>C (p.Val384=) c.1419G>C (p.Val473=) c.1377G>C (p.Val459=) c.1275G>C (p.Val425=) c.1239G>C (p.Val413=) c.1080G>C (p.Val360=) | |
| 1 | g.173903988C>T | CA421821515 | SERPINC1 | c.1296G>A (p.Val432=) c.681G>A (p.Val227=) c.1152G>A (p.Val384=) c.1419G>A (p.Val473=) c.1377G>A (p.Val459=) c.1275G>A (p.Val425=) c.1239G>A (p.Val413=) c.1080G>A (p.Val360=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173903989A>C | CA343772480 | SERPINC1 | c.1295T>G (p.Val432Gly) c.680T>G (p.Val227Gly) c.1151T>G (p.Val384Gly) c.1418T>G (p.Val473Gly) c.1376T>G (p.Val459Gly) c.1274T>G (p.Val425Gly) c.1238T>G (p.Val413Gly) c.1079T>G (p.Val360Gly) | |
| 1 | g.173903989A>G | CA343772482 | SERPINC1 | c.1295T>C (p.Val432Ala) c.680T>C (p.Val227Ala) c.1151T>C (p.Val384Ala) c.1418T>C (p.Val473Ala) c.1376T>C (p.Val459Ala) c.1274T>C (p.Val425Ala) c.1238T>C (p.Val413Ala) c.1079T>C (p.Val360Ala) | |
| 1 | g.173903989A>T | CA343772484 | SERPINC1 | c.1295T>A (p.Val432Glu) c.680T>A (p.Val227Glu) c.1151T>A (p.Val384Glu) c.1418T>A (p.Val473Glu) c.1376T>A (p.Val459Glu) c.1274T>A (p.Val425Glu) c.1238T>A (p.Val413Glu) c.1079T>A (p.Val360Glu) | |
| 1 | g.173903989_173903990insGA | CA2586967707 | SERPINC1 | c.1295_1296insCT (p.Thr433Ter) c.680_681insCT (p.Thr228Ter) c.1151_1152insCT (p.Thr385Ter) c.1418_1419insCT (p.Thr474Ter) c.1376_1377insCT (p.Thr460Ter) c.1274_1275insCT (p.Thr426Ter) c.1238_1239insCT (p.Thr414Ter) c.1079_1080insCT (p.Thr361Ter) | |
| 1 | g.173903990C>A | CA343772487 | SERPINC1 | c.1294G>T (p.Val432Leu) c.679G>T (p.Val227Leu) c.1150G>T (p.Val384Leu) c.1417G>T (p.Val473Leu) c.1375G>T (p.Val459Leu) c.1273G>T (p.Val425Leu) c.1237G>T (p.Val413Leu) c.1078G>T (p.Val360Leu) | |
| 1 | g.173903990C>G | CA343772488 | SERPINC1 | c.1294G>C (p.Val432Leu) c.679G>C (p.Val227Leu) c.1150G>C (p.Val384Leu) c.1417G>C (p.Val473Leu) c.1375G>C (p.Val459Leu) c.1273G>C (p.Val425Leu) c.1237G>C (p.Val413Leu) c.1078G>C (p.Val360Leu) | |
| 1 | g.173903990C>T | CA343772490 | SERPINC1 | c.1294G>A (p.Val432Met) c.679G>A (p.Val227Met) c.1150G>A (p.Val384Met) c.1417G>A (p.Val473Met) c.1375G>A (p.Val459Met) c.1273G>A (p.Val425Met) c.1237G>A (p.Val413Met) c.1078G>A (p.Val360Met) | gnomAD v4 |
| 1 | g.173903992dup | CA2586967708 | SERPINC1 | c.1294dup (p.Val432GlyfsTer?) c.679dup (p.Val227GlyfsTer?) c.1150dup (p.Val384GlyfsTer?) c.1417dup (p.Val473GlyfsTer?) c.1375dup (p.Val459GlyfsTer?) c.1273dup (p.Val425GlyfsTer?) c.1237dup (p.Val413GlyfsTer?) c.1078dup (p.Val360GlyfsTer?) | |
| 1 | g.173903992del | CA645537735 | SERPINC1 | c.1294del (p.Val432Ter) c.679del (p.Val227Ter) c.1150del (p.Val384Ter) c.1417del (p.Val473Ter) c.1375del (p.Val459Ter) c.1273del (p.Val425Ter) c.1237del (p.Val413Ter) c.1078del (p.Val360Ter) | COSMIC |
| 1 | g.173903991C>A | CA343772493 | SERPINC1 | c.1293G>T (p.Arg431Ser) c.678G>T (p.Arg226Ser) c.1149G>T (p.Arg383Ser) c.1416G>T (p.Arg472Ser) c.1374G>T (p.Arg458Ser) c.1272G>T (p.Arg424Ser) c.1236G>T (p.Arg412Ser) c.1077G>T (p.Arg359Ser) | gnomAD v4 |
| 1 | g.173903991C= | CA1207934381 | SERPINC1 | c.1293G= (p.Arg431=) c.678G= (p.Arg226=) c.1149G= (p.Arg383=) c.1416G= (p.Arg472=) c.1374G= (p.Arg458=) c.1272G= (p.Arg424=) c.1236G= (p.Arg412=) c.1077G= (p.Arg359=) | |
| 1 | g.173903991C>G | CA343772494 | SERPINC1 | c.1293G>C (p.Arg431Ser) c.678G>C (p.Arg226Ser) c.1149G>C (p.Arg383Ser) c.1416G>C (p.Arg472Ser) c.1374G>C (p.Arg458Ser) c.1272G>C (p.Arg424Ser) c.1236G>C (p.Arg412Ser) c.1077G>C (p.Arg359Ser) | |
| 1 | g.173903991C>T | CA421821521 | SERPINC1 | c.1293G>A (p.Arg431=) c.678G>A (p.Arg226=) c.1149G>A (p.Arg383=) c.1416G>A (p.Arg472=) c.1374G>A (p.Arg458=) c.1272G>A (p.Arg424=) c.1236G>A (p.Arg412=) c.1077G>A (p.Arg359=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173903992C>A | CA343772499 | SERPINC1 | c.1292G>T (p.Arg431Met) c.677G>T (p.Arg226Met) c.1148G>T (p.Arg383Met) c.1415G>T (p.Arg472Met) c.1373G>T (p.Arg458Met) c.1271G>T (p.Arg424Met) c.1235G>T (p.Arg412Met) c.1076G>T (p.Arg359Met) | |
| 1 | g.173903992C>G | CA343772501 | SERPINC1 | c.1292G>C (p.Arg431Thr) c.677G>C (p.Arg226Thr) c.1148G>C (p.Arg383Thr) c.1415G>C (p.Arg472Thr) c.1373G>C (p.Arg458Thr) c.1271G>C (p.Arg424Thr) c.1235G>C (p.Arg412Thr) c.1076G>C (p.Arg359Thr) | |
| 1 | g.173903992C>T | CA343772497 | SERPINC1 | c.1292G>A (p.Arg431Lys) c.677G>A (p.Arg226Lys) c.1148G>A (p.Arg383Lys) c.1415G>A (p.Arg472Lys) c.1373G>A (p.Arg458Lys) c.1271G>A (p.Arg424Lys) c.1235G>A (p.Arg412Lys) c.1076G>A (p.Arg359Lys) | |
| 1 | g.173903993T>A | CA343772505 | SERPINC1 | c.1291A>T (p.Arg431Trp) c.676A>T (p.Arg226Trp) c.1147A>T (p.Arg383Trp) c.1414A>T (p.Arg472Trp) c.1372A>T (p.Arg458Trp) c.1270A>T (p.Arg424Trp) c.1234A>T (p.Arg412Trp) c.1075A>T (p.Arg359Trp) | |
| 1 | g.173903993T>C | CA343772503 | SERPINC1 | c.1291A>G (p.Arg431Gly) c.676A>G (p.Arg226Gly) c.1147A>G (p.Arg383Gly) c.1414A>G (p.Arg472Gly) c.1372A>G (p.Arg458Gly) c.1270A>G (p.Arg424Gly) c.1234A>G (p.Arg412Gly) c.1075A>G (p.Arg359Gly) | |
| 1 | g.173903993T>G | CA421821523 | SERPINC1 | c.1291A>C (p.Arg431=) c.676A>C (p.Arg226=) c.1147A>C (p.Arg383=) c.1414A>C (p.Arg472=) c.1372A>C (p.Arg458=) c.1270A>C (p.Arg424=) c.1234A>C (p.Arg412=) c.1075A>C (p.Arg359=) | |
| 1 | g.173903994G>A | CA421821526 | SERPINC1 | c.1290C>T (p.Asn430=) c.675C>T (p.Asn225=) c.1146C>T (p.Asn382=) c.1413C>T (p.Asn471=) c.1371C>T (p.Asn457=) c.1269C>T (p.Asn423=) c.1233C>T (p.Asn411=) c.1074C>T (p.Asn358=) | gnomAD v4 |
| 1 | g.173903994G>C | CA343772507 | SERPINC1 | c.1290C>G (p.Asn430Lys) c.675C>G (p.Asn225Lys) c.1146C>G (p.Asn382Lys) c.1413C>G (p.Asn471Lys) c.1371C>G (p.Asn457Lys) c.1269C>G (p.Asn423Lys) c.1233C>G (p.Asn411Lys) c.1074C>G (p.Asn358Lys) | |
| 1 | g.173903994G= | CA1148321008 | SERPINC1 | c.1290C= (p.Asn430=) c.675C= (p.Asn225=) c.1146C= (p.Asn382=) c.1413C= (p.Asn471=) c.1371C= (p.Asn457=) c.1269C= (p.Asn423=) c.1233C= (p.Asn411=) c.1074C= (p.Asn358=) | |
| 1 | g.173903994G>T | CA1251219 | SERPINC1 | c.1290C>A (p.Asn430Lys) c.675C>A (p.Asn225Lys) c.1146C>A (p.Asn382Lys) c.1413C>A (p.Asn471Lys) c.1371C>A (p.Asn457Lys) c.1269C>A (p.Asn423Lys) c.1233C>A (p.Asn411Lys) c.1074C>A (p.Asn358Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173903995T>A | CA343772512 | SERPINC1 | c.1289A>T (p.Asn430Ile) c.674A>T (p.Asn225Ile) c.1145A>T (p.Asn382Ile) c.1412A>T (p.Asn471Ile) c.1370A>T (p.Asn457Ile) c.1268A>T (p.Asn423Ile) c.1232A>T (p.Asn411Ile) c.1073A>T (p.Asn358Ile) | |
| 1 | g.173903995T>C | CA343772513 | SERPINC1 | c.1289A>G (p.Asn430Ser) c.674A>G (p.Asn225Ser) c.1145A>G (p.Asn382Ser) c.1412A>G (p.Asn471Ser) c.1370A>G (p.Asn457Ser) c.1268A>G (p.Asn423Ser) c.1232A>G (p.Asn411Ser) c.1073A>G (p.Asn358Ser) | |
| 1 | g.173903995T>G | CA343772515 | SERPINC1 | c.1289A>C (p.Asn430Thr) c.674A>C (p.Asn225Thr) c.1145A>C (p.Asn382Thr) c.1412A>C (p.Asn471Thr) c.1370A>C (p.Asn457Thr) c.1268A>C (p.Asn423Thr) c.1232A>C (p.Asn411Thr) c.1073A>C (p.Asn358Thr) | |
| 1 | g.173903996T>A | CA343772518 | SERPINC1 | c.1288A>T (p.Asn430Tyr) c.673A>T (p.Asn225Tyr) c.1144A>T (p.Asn382Tyr) c.1411A>T (p.Asn471Tyr) c.1369A>T (p.Asn457Tyr) c.1267A>T (p.Asn423Tyr) c.1231A>T (p.Asn411Tyr) c.1072A>T (p.Asn358Tyr) | |
| 1 | g.173903996T>C | CA343772520 | SERPINC1 | c.1288A>G (p.Asn430Asp) c.673A>G (p.Asn225Asp) c.1144A>G (p.Asn382Asp) c.1411A>G (p.Asn471Asp) c.1369A>G (p.Asn457Asp) c.1267A>G (p.Asn423Asp) c.1231A>G (p.Asn411Asp) c.1072A>G (p.Asn358Asp) | gnomAD v4 |
| 1 | g.173903996T>G | CA343772522 | SERPINC1 | c.1288A>C (p.Asn430His) c.673A>C (p.Asn225His) c.1144A>C (p.Asn382His) c.1411A>C (p.Asn471His) c.1369A>C (p.Asn457His) c.1267A>C (p.Asn423His) c.1231A>C (p.Asn411His) c.1072A>C (p.Asn358His) | |
| 1 | g.173903997G>A | CA1251220 | SERPINC1 | c.1287C>T (p.Pro429=) c.672C>T (p.Pro224=) c.1143C>T (p.Pro381=) c.1410C>T (p.Pro470=) c.1368C>T (p.Pro456=) c.1266C>T (p.Pro422=) c.1230C>T (p.Pro410=) c.1071C>T (p.Pro357=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173903997G>C | CA421821529 | SERPINC1 | c.1287C>G (p.Pro429=) c.672C>G (p.Pro224=) c.1143C>G (p.Pro381=) c.1410C>G (p.Pro470=) c.1368C>G (p.Pro456=) c.1266C>G (p.Pro422=) c.1230C>G (p.Pro410=) c.1071C>G (p.Pro357=) | |
| 1 | g.173903997G= | CA1207934382 | SERPINC1 | c.1287C= (p.Pro429=) c.672C= (p.Pro224=) c.1143C= (p.Pro381=) c.1410C= (p.Pro470=) c.1368C= (p.Pro456=) c.1266C= (p.Pro422=) c.1230C= (p.Pro410=) c.1071C= (p.Pro357=) | |
| 1 | g.173903997G>T | CA421821531 | SERPINC1 | c.1287C>A (p.Pro429=) c.672C>A (p.Pro224=) c.1143C>A (p.Pro381=) c.1410C>A (p.Pro470=) c.1368C>A (p.Pro456=) c.1266C>A (p.Pro422=) c.1230C>A (p.Pro410=) c.1071C>A (p.Pro357=) | |
| 1 | g.173903998G>A | CA343772528 | SERPINC1 | c.1286C>T (p.Pro429Leu) c.671C>T (p.Pro224Leu) c.1142C>T (p.Pro381Leu) c.1409C>T (p.Pro470Leu) c.1367C>T (p.Pro456Leu) c.1265C>T (p.Pro422Leu) c.1229C>T (p.Pro410Leu) c.1070C>T (p.Pro357Leu) | |
| 1 | g.173903998G>C | CA343772530 | SERPINC1 | c.1286C>G (p.Pro429Arg) c.671C>G (p.Pro224Arg) c.1142C>G (p.Pro381Arg) c.1409C>G (p.Pro470Arg) c.1367C>G (p.Pro456Arg) c.1265C>G (p.Pro422Arg) c.1229C>G (p.Pro410Arg) c.1070C>G (p.Pro357Arg) | |
| 1 | g.173903998G>T | CA343772532 | SERPINC1 | c.1286C>A (p.Pro429His) c.671C>A (p.Pro224His) c.1142C>A (p.Pro381His) c.1409C>A (p.Pro470His) c.1367C>A (p.Pro456His) c.1265C>A (p.Pro422His) c.1229C>A (p.Pro410His) c.1070C>A (p.Pro357His) | |
| 1 | g.173903999G>A | CA343772539 | SERPINC1 | c.1285C>T (p.Pro429Ser) c.670C>T (p.Pro224Ser) c.1141C>T (p.Pro381Ser) c.1408C>T (p.Pro470Ser) c.1366C>T (p.Pro456Ser) c.1264C>T (p.Pro422Ser) c.1228C>T (p.Pro410Ser) c.1069C>T (p.Pro357Ser) | |
| 1 | g.173903999G>C | CA343772535 | SERPINC1 | c.1285C>G (p.Pro429Ala) c.670C>G (p.Pro224Ala) c.1141C>G (p.Pro381Ala) c.1408C>G (p.Pro470Ala) c.1366C>G (p.Pro456Ala) c.1264C>G (p.Pro422Ala) c.1228C>G (p.Pro410Ala) c.1069C>G (p.Pro357Ala) | |
| 1 | g.173903999G>T | CA343772537 | SERPINC1 | c.1285C>A (p.Pro429Thr) c.670C>A (p.Pro224Thr) c.1141C>A (p.Pro381Thr) c.1408C>A (p.Pro470Thr) c.1366C>A (p.Pro456Thr) c.1264C>A (p.Pro422Thr) c.1228C>A (p.Pro410Thr) c.1069C>A (p.Pro357Thr) | |
| 1 | g.173904000G>A | CA421821535 | SERPINC1 | c.1284C>T (p.Asn428=) c.669C>T (p.Asn223=) c.1140C>T (p.Asn380=) c.1407C>T (p.Asn469=) c.1365C>T (p.Asn455=) c.1263C>T (p.Asn421=) c.1227C>T (p.Asn409=) c.1068C>T (p.Asn356=) | ClinVar gnomAD v4 |
| 1 | g.173904000G>C | CA343772542 | SERPINC1 | c.1284C>G (p.Asn428Lys) c.669C>G (p.Asn223Lys) c.1140C>G (p.Asn380Lys) c.1407C>G (p.Asn469Lys) c.1365C>G (p.Asn455Lys) c.1263C>G (p.Asn421Lys) c.1227C>G (p.Asn409Lys) c.1068C>G (p.Asn356Lys) | ClinVar gnomAD v4 |
| 1 | g.173904000G>T | CA343772545 | SERPINC1 | c.1284C>A (p.Asn428Lys) c.669C>A (p.Asn223Lys) c.1140C>A (p.Asn380Lys) c.1407C>A (p.Asn469Lys) c.1365C>A (p.Asn455Lys) c.1263C>A (p.Asn421Lys) c.1227C>A (p.Asn409Lys) c.1068C>A (p.Asn356Lys) | COSMIC |
| 1 | g.173904001T>A | CA343772548 | SERPINC1 | c.1283A>T (p.Asn428Ile) c.668A>T (p.Asn223Ile) c.1139A>T (p.Asn380Ile) c.1406A>T (p.Asn469Ile) c.1364A>T (p.Asn455Ile) c.1262A>T (p.Asn421Ile) c.1226A>T (p.Asn409Ile) c.1067A>T (p.Asn356Ile) | |
| 1 | g.173904001T>C | CA343772551 | SERPINC1 | c.1283A>G (p.Asn428Ser) c.668A>G (p.Asn223Ser) c.1139A>G (p.Asn380Ser) c.1406A>G (p.Asn469Ser) c.1364A>G (p.Asn455Ser) c.1262A>G (p.Asn421Ser) c.1226A>G (p.Asn409Ser) c.1067A>G (p.Asn356Ser) | |
| 1 | g.173904001T>G | CA343772553 | SERPINC1 | c.1283A>C (p.Asn428Thr) c.668A>C (p.Asn223Thr) c.1139A>C (p.Asn380Thr) c.1406A>C (p.Asn469Thr) c.1364A>C (p.Asn455Thr) c.1262A>C (p.Asn421Thr) c.1226A>C (p.Asn409Thr) c.1067A>C (p.Asn356Thr) | |
| 1 | g.173904002T>A | CA343772556 | SERPINC1 | c.1282A>T (p.Asn428Tyr) c.667A>T (p.Asn223Tyr) c.1138A>T (p.Asn380Tyr) c.1405A>T (p.Asn469Tyr) c.1363A>T (p.Asn455Tyr) c.1261A>T (p.Asn421Tyr) c.1225A>T (p.Asn409Tyr) c.1066A>T (p.Asn356Tyr) | |
| 1 | g.173904002T>C | CA343772558 | SERPINC1 | c.1282A>G (p.Asn428Asp) c.667A>G (p.Asn223Asp) c.1138A>G (p.Asn380Asp) c.1405A>G (p.Asn469Asp) c.1363A>G (p.Asn455Asp) c.1261A>G (p.Asn421Asp) c.1225A>G (p.Asn409Asp) c.1066A>G (p.Asn356Asp) | |
| 1 | g.173904002T>G | CA343772561 | SERPINC1 | c.1282A>C (p.Asn428His) c.667A>C (p.Asn223His) c.1138A>C (p.Asn380His) c.1405A>C (p.Asn469His) c.1363A>C (p.Asn455His) c.1261A>C (p.Asn421His) c.1225A>C (p.Asn409His) c.1066A>C (p.Asn356His) | |
| 1 | g.173904003T>A | CA421821539 | SERPINC1 | c.1281A>T (p.Leu427=) c.666A>T (p.Leu222=) c.1137A>T (p.Leu379=) c.1404A>T (p.Leu468=) c.1362A>T (p.Leu454=) c.1260A>T (p.Leu420=) c.1224A>T (p.Leu408=) c.1065A>T (p.Leu355=) | |
| 1 | g.173904003T>C | CA421821541 | SERPINC1 | c.1281A>G (p.Leu427=) c.666A>G (p.Leu222=) c.1137A>G (p.Leu379=) c.1404A>G (p.Leu468=) c.1362A>G (p.Leu454=) c.1260A>G (p.Leu420=) c.1224A>G (p.Leu408=) c.1065A>G (p.Leu355=) | |
| 1 | g.173904003T>G | CA421821542 | SERPINC1 | c.1281A>C (p.Leu427=) c.666A>C (p.Leu222=) c.1137A>C (p.Leu379=) c.1404A>C (p.Leu468=) c.1362A>C (p.Leu454=) c.1260A>C (p.Leu420=) c.1224A>C (p.Leu408=) c.1065A>C (p.Leu355=) | |
| 1 | g.173904004A>C | CA343772564 | SERPINC1 | c.1280T>G (p.Leu427Arg) c.665T>G (p.Leu222Arg) c.1136T>G (p.Leu379Arg) c.1403T>G (p.Leu468Arg) c.1361T>G (p.Leu454Arg) c.1259T>G (p.Leu420Arg) c.1223T>G (p.Leu408Arg) c.1064T>G (p.Leu355Arg) | |
| 1 | g.173904004A>G | CA343772566 | SERPINC1 | c.1280T>C (p.Leu427Pro) c.665T>C (p.Leu222Pro) c.1136T>C (p.Leu379Pro) c.1403T>C (p.Leu468Pro) c.1361T>C (p.Leu454Pro) c.1259T>C (p.Leu420Pro) c.1223T>C (p.Leu408Pro) c.1064T>C (p.Leu355Pro) | |
| 1 | g.173904004A>T | CA343772568 | SERPINC1 | c.1280T>A (p.Leu427Gln) c.665T>A (p.Leu222Gln) c.1136T>A (p.Leu379Gln) c.1403T>A (p.Leu468Gln) c.1361T>A (p.Leu454Gln) c.1259T>A (p.Leu420Gln) c.1223T>A (p.Leu408Gln) c.1064T>A (p.Leu355Gln) | |
| 1 | g.173904005G>A | CA421821546 | SERPINC1 | c.1279C>T (p.Leu427=) c.664C>T (p.Leu222=) c.1135C>T (p.Leu379=) c.1402C>T (p.Leu468=) c.1360C>T (p.Leu454=) c.1258C>T (p.Leu420=) c.1222C>T (p.Leu408=) c.1063C>T (p.Leu355=) | |
| 1 | g.173904005G>C | CA343772571 | SERPINC1 | c.1279C>G (p.Leu427Val) c.664C>G (p.Leu222Val) c.1135C>G (p.Leu379Val) c.1402C>G (p.Leu468Val) c.1360C>G (p.Leu454Val) c.1258C>G (p.Leu420Val) c.1222C>G (p.Leu408Val) c.1063C>G (p.Leu355Val) | |
| 1 | g.173904005G>T | CA343772573 | SERPINC1 | c.1279C>A (p.Leu427Ile) c.664C>A (p.Leu222Ile) c.1135C>A (p.Leu379Ile) c.1402C>A (p.Leu468Ile) c.1360C>A (p.Leu454Ile) c.1258C>A (p.Leu420Ile) c.1222C>A (p.Leu408Ile) c.1063C>A (p.Leu355Ile) | |
| 1 | g.173904006C>A | CA421821547 | SERPINC1 | c.1278G>T (p.Ser426=) c.663G>T (p.Ser221=) c.1134G>T (p.Ser378=) c.1401G>T (p.Ser467=) c.1359G>T (p.Ser453=) c.1257G>T (p.Ser419=) c.1221G>T (p.Ser407=) c.1062G>T (p.Ser354=) | |
| 1 | g.173904006C= | CA1207934383 | SERPINC1 | c.1278G= (p.Ser426=) c.663G= (p.Ser221=) c.1134G= (p.Ser378=) c.1401G= (p.Ser467=) c.1359G= (p.Ser453=) c.1257G= (p.Ser419=) c.1221G= (p.Ser407=) c.1062G= (p.Ser354=) | |
| 1 | g.173904006C>G | CA421821549 | SERPINC1 | c.1278G>C (p.Ser426=) c.663G>C (p.Ser221=) c.1134G>C (p.Ser378=) c.1401G>C (p.Ser467=) c.1359G>C (p.Ser453=) c.1257G>C (p.Ser419=) c.1221G>C (p.Ser407=) c.1062G>C (p.Ser354=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173904006C>T | CA1251221 | SERPINC1 | c.1278G>A (p.Ser426=) c.663G>A (p.Ser221=) c.1134G>A (p.Ser378=) c.1401G>A (p.Ser467=) c.1359G>A (p.Ser453=) c.1257G>A (p.Ser419=) c.1221G>A (p.Ser407=) c.1062G>A (p.Ser354=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904007G>A | CA210754 | SERPINC1 | c.1277C>T (p.Ser426Leu) c.662C>T (p.Ser221Leu) c.1133C>T (p.Ser378Leu) c.1400C>T (p.Ser467Leu) c.1358C>T (p.Ser453Leu) c.1256C>T (p.Ser419Leu) c.1220C>T (p.Ser407Leu) c.1061C>T (p.Ser354Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173904007G>C | CA343772578 | SERPINC1 | c.1277C>G (p.Ser426Trp) c.662C>G (p.Ser221Trp) c.1133C>G (p.Ser378Trp) c.1400C>G (p.Ser467Trp) c.1358C>G (p.Ser453Trp) c.1256C>G (p.Ser419Trp) c.1220C>G (p.Ser407Trp) c.1061C>G (p.Ser354Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173904007G= | CA1141581230 | SERPINC1 | c.1277C= (p.Ser426=) c.662C= (p.Ser221=) c.1133C= (p.Ser378=) c.1400C= (p.Ser467=) c.1358C= (p.Ser453=) c.1256C= (p.Ser419=) c.1220C= (p.Ser407=) c.1061C= (p.Ser354=) | |
| 1 | g.173904007G>T | CA343772580 | SERPINC1 | c.1277C>A (p.Ser426Ter) c.662C>A (p.Ser221Ter) c.1133C>A (p.Ser378Ter) c.1400C>A (p.Ser467Ter) c.1358C>A (p.Ser453Ter) c.1256C>A (p.Ser419Ter) c.1220C>A (p.Ser407Ter) c.1061C>A (p.Ser354Ter) | |
| 1 | g.173904008A>C | CA343772585 | SERPINC1 | c.1276T>G (p.Ser426Ala) c.661T>G (p.Ser221Ala) c.1132T>G (p.Ser378Ala) c.1399T>G (p.Ser467Ala) c.1357T>G (p.Ser453Ala) c.1255T>G (p.Ser419Ala) c.1219T>G (p.Ser407Ala) c.1060T>G (p.Ser354Ala) | |
| 1 | g.173904008A>G | CA343772587 | SERPINC1 | c.1276T>C (p.Ser426Pro) c.661T>C (p.Ser221Pro) c.1132T>C (p.Ser378Pro) c.1399T>C (p.Ser467Pro) c.1357T>C (p.Ser453Pro) c.1255T>C (p.Ser419Pro) c.1219T>C (p.Ser407Pro) c.1060T>C (p.Ser354Pro) | |
| 1 | g.173904008A>T | CA343772589 | SERPINC1 | c.1276T>A (p.Ser426Thr) c.661T>A (p.Ser221Thr) c.1132T>A (p.Ser378Thr) c.1399T>A (p.Ser467Thr) c.1357T>A (p.Ser453Thr) c.1255T>A (p.Ser419Thr) c.1219T>A (p.Ser407Thr) c.1060T>A (p.Ser354Thr) | |
| 1 | g.173904009A= | CA1207934384 | SERPINC1 | c.1275T= (p.Arg425=) c.660T= (p.Arg220=) c.1131T= (p.Arg377=) c.1398T= (p.Arg466=) c.1356T= (p.Arg452=) c.1254T= (p.Arg418=) c.1218T= (p.Arg406=) c.1059T= (p.Arg353=) | |
| 1 | g.173904009A>C | CA421821555 | SERPINC1 | c.1275T>G (p.Arg425=) c.660T>G (p.Arg220=) c.1131T>G (p.Arg377=) c.1398T>G (p.Arg466=) c.1356T>G (p.Arg452=) c.1254T>G (p.Arg418=) c.1218T>G (p.Arg406=) c.1059T>G (p.Arg353=) | |
| 1 | g.173904009A>G | CA421821556 | SERPINC1 | c.1275T>C (p.Arg425=) c.660T>C (p.Arg220=) c.1131T>C (p.Arg377=) c.1398T>C (p.Arg466=) c.1356T>C (p.Arg452=) c.1254T>C (p.Arg418=) c.1218T>C (p.Arg406=) c.1059T>C (p.Arg353=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173904009A>T | CA421821557 | SERPINC1 | c.1275T>A (p.Arg425=) c.660T>A (p.Arg220=) c.1131T>A (p.Arg377=) c.1398T>A (p.Arg466=) c.1356T>A (p.Arg452=) c.1254T>A (p.Arg418=) c.1218T>A (p.Arg406=) c.1059T>A (p.Arg353=) | |
| 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.173904010C>A | CA343772592 | SERPINC1 | c.1274G>T (p.Arg425Leu) c.659G>T (p.Arg220Leu) c.1130G>T (p.Arg377Leu) c.1397G>T (p.Arg466Leu) c.1355G>T (p.Arg452Leu) c.1253G>T (p.Arg418Leu) c.1217G>T (p.Arg406Leu) c.1058G>T (p.Arg353Leu) | |
| 1 | g.173904010C= | CA1141581233 | SERPINC1 | c.1274G= (p.Arg425=) c.659G= (p.Arg220=) c.1130G= (p.Arg377=) c.1397G= (p.Arg466=) c.1355G= (p.Arg452=) c.1253G= (p.Arg418=) c.1217G= (p.Arg406=) c.1058G= (p.Arg353=) | |
| 1 | g.173904010C>G | CA210752 | SERPINC1 | c.1274G>C (p.Arg425Pro) c.659G>C (p.Arg220Pro) c.1130G>C (p.Arg377Pro) c.1397G>C (p.Arg466Pro) c.1355G>C (p.Arg452Pro) c.1253G>C (p.Arg418Pro) c.1217G>C (p.Arg406Pro) c.1058G>C (p.Arg353Pro) | ClinVar dbSNP |
| 1 | g.173904010C>T | CA210766 | SERPINC1 | c.1274G>A (p.Arg425His) c.659G>A (p.Arg220His) c.1130G>A (p.Arg377His) c.1397G>A (p.Arg466His) c.1355G>A (p.Arg452His) c.1253G>A (p.Arg418His) c.1217G>A (p.Arg406His) c.1058G>A (p.Arg353His) | ClinVar dbSNP gnomAD v2 |
| 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=) | |
| 1 | g.173904024A>G | CA421821583 | SERPINC1 | c.1260T>C (p.Val420=) c.645T>C (p.Val215=) c.1116T>C (p.Val372=) c.1383T>C (p.Val461=) c.1341T>C (p.Val447=) c.1239T>C (p.Val413=) c.1203T>C (p.Val401=) c.1044T>C (p.Val348=) | |
| 1 | g.173904024A>T | CA421821584 | SERPINC1 | c.1260T>A (p.Val420=) c.645T>A (p.Val215=) c.1116T>A (p.Val372=) c.1383T>A (p.Val461=) c.1341T>A (p.Val447=) c.1239T>A (p.Val413=) c.1203T>A (p.Val401=) c.1044T>A (p.Val348=) | |
| 1 | g.173904025dup | CA891309690 | SERPINC1 | c.1260dup (p.Val421CysfsTer?) c.645dup (p.Val216CysfsTer?) c.1116dup (p.Val373CysfsTer?) c.1383dup (p.Val462CysfsTer?) c.1341dup (p.Val448CysfsTer?) c.1239dup (p.Val414CysfsTer?) c.1203dup (p.Val402CysfsTer?) c.1044dup (p.Val349CysfsTer?) | dbSNP |
| 1 | g.173904025A= | CA1207934390 | SERPINC1 | c.1259T= (p.Val420=) c.644T= (p.Val215=) c.1115T= (p.Val372=) c.1382T= (p.Val461=) c.1340T= (p.Val447=) c.1238T= (p.Val413=) c.1202T= (p.Val401=) c.1043T= (p.Val348=) | |
| 1 | g.173904025A>C | CA343772619 | SERPINC1 | c.1259T>G (p.Val420Gly) c.644T>G (p.Val215Gly) c.1115T>G (p.Val372Gly) c.1382T>G (p.Val461Gly) c.1340T>G (p.Val447Gly) c.1238T>G (p.Val413Gly) c.1202T>G (p.Val401Gly) c.1043T>G (p.Val348Gly) | |
| 1 | g.173904025A>G | CA343772621 | SERPINC1 | c.1259T>C (p.Val420Ala) c.644T>C (p.Val215Ala) c.1115T>C (p.Val372Ala) c.1382T>C (p.Val461Ala) c.1340T>C (p.Val447Ala) c.1238T>C (p.Val413Ala) c.1202T>C (p.Val401Ala) c.1043T>C (p.Val348Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173904025A>T | CA343772620 | SERPINC1 | c.1259T>A (p.Val420Asp) c.644T>A (p.Val215Asp) c.1115T>A (p.Val372Asp) c.1382T>A (p.Val461Asp) c.1340T>A (p.Val447Asp) c.1238T>A (p.Val413Asp) c.1202T>A (p.Val401Asp) c.1043T>A (p.Val348Asp) | |
| 1 | g.173904026C>A | CA343772622 | SERPINC1 | c.1258G>T (p.Val420Phe) c.643G>T (p.Val215Phe) c.1114G>T (p.Val372Phe) c.1381G>T (p.Val461Phe) c.1339G>T (p.Val447Phe) c.1237G>T (p.Val413Phe) c.1201G>T (p.Val401Phe) c.1042G>T (p.Val348Phe) | |
| 1 | g.173904026C= | CA1143854640 | SERPINC1 | c.1258G= (p.Val420=) c.643G= (p.Val215=) c.1114G= (p.Val372=) c.1381G= (p.Val461=) c.1339G= (p.Val447=) c.1237G= (p.Val413=) c.1201G= (p.Val401=) c.1042G= (p.Val348=) | |
| 1 | g.173904026C>G | CA1251224 | SERPINC1 | c.1258G>C (p.Val420Leu) c.643G>C (p.Val215Leu) c.1114G>C (p.Val372Leu) c.1381G>C (p.Val461Leu) c.1339G>C (p.Val447Leu) c.1237G>C (p.Val413Leu) c.1201G>C (p.Val401Leu) c.1042G>C (p.Val348Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173904026C>T | CA32777291 | SERPINC1 | c.1258G>A (p.Val420Ile) c.643G>A (p.Val215Ile) c.1114G>A (p.Val372Ile) c.1381G>A (p.Val461Ile) c.1339G>A (p.Val447Ile) c.1237G>A (p.Val413Ile) c.1201G>A (p.Val401Ile) c.1042G>A (p.Val348Ile) | dbSNP |
| 1 | g.173904027A>C | CA421821587 | SERPINC1 | c.1257T>G (p.Ala419=) c.642T>G (p.Ala214=) c.1113T>G (p.Ala371=) c.1380T>G (p.Ala460=) c.1338T>G (p.Ala446=) c.1236T>G (p.Ala412=) c.1200T>G (p.Ala400=) c.1041T>G (p.Ala347=) | |
| 1 | g.173904027A>G | CA421821588 | SERPINC1 | c.1257T>C (p.Ala419=) c.642T>C (p.Ala214=) c.1113T>C (p.Ala371=) c.1380T>C (p.Ala460=) c.1338T>C (p.Ala446=) c.1236T>C (p.Ala412=) c.1200T>C (p.Ala400=) c.1041T>C (p.Ala347=) | |
| 1 | g.173904027A>T | CA421821589 | SERPINC1 | c.1257T>A (p.Ala419=) c.642T>A (p.Ala214=) c.1113T>A (p.Ala371=) c.1380T>A (p.Ala460=) c.1338T>A (p.Ala446=) c.1236T>A (p.Ala412=) c.1200T>A (p.Ala400=) c.1041T>A (p.Ala347=) | |
| 1 | g.173904028G>A | CA210789 | SERPINC1 | c.1256C>T (p.Ala419Val) c.641C>T (p.Ala214Val) c.1112C>T (p.Ala371Val) c.1379C>T (p.Ala460Val) c.1337C>T (p.Ala446Val) c.1235C>T (p.Ala412Val) c.1199C>T (p.Ala400Val) c.1040C>T (p.Ala347Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904028G>C | CA343772623 | SERPINC1 | c.1256C>G (p.Ala419Gly) c.641C>G (p.Ala214Gly) c.1112C>G (p.Ala371Gly) c.1379C>G (p.Ala460Gly) c.1337C>G (p.Ala446Gly) c.1235C>G (p.Ala412Gly) c.1199C>G (p.Ala400Gly) c.1040C>G (p.Ala347Gly) | |
| 1 | g.173904028G= | CA1141581240 | SERPINC1 | c.1256C= (p.Ala419=) c.641C= (p.Ala214=) c.1112C= (p.Ala371=) c.1379C= (p.Ala460=) c.1337C= (p.Ala446=) c.1235C= (p.Ala412=) c.1199C= (p.Ala400=) c.1040C= (p.Ala347=) | |
| 1 | g.173904028G>T | CA343772624 | SERPINC1 | c.1256C>A (p.Ala419Asp) c.641C>A (p.Ala214Asp) c.1112C>A (p.Ala371Asp) c.1379C>A (p.Ala460Asp) c.1337C>A (p.Ala446Asp) c.1235C>A (p.Ala412Asp) c.1199C>A (p.Ala400Asp) c.1040C>A (p.Ala347Asp) | |
| 1 | g.173904029C>A | CA343772625 | SERPINC1 | c.1255G>T (p.Ala419Ser) c.640G>T (p.Ala214Ser) c.1111G>T (p.Ala371Ser) c.1378G>T (p.Ala460Ser) c.1336G>T (p.Ala446Ser) c.1234G>T (p.Ala412Ser) c.1198G>T (p.Ala400Ser) c.1039G>T (p.Ala347Ser) | |
| 1 | g.173904029C= | CA1146126601 | SERPINC1 | c.1255G= (p.Ala419=) c.640G= (p.Ala214=) c.1111G= (p.Ala371=) c.1378G= (p.Ala460=) c.1336G= (p.Ala446=) c.1234G= (p.Ala412=) c.1198G= (p.Ala400=) c.1039G= (p.Ala347=) | |
| 1 | g.173904029C>G | CA343772626 | SERPINC1 | c.1255G>C (p.Ala419Pro) c.640G>C (p.Ala214Pro) c.1111G>C (p.Ala371Pro) c.1378G>C (p.Ala460Pro) c.1336G>C (p.Ala446Pro) c.1234G>C (p.Ala412Pro) c.1198G>C (p.Ala400Pro) c.1039G>C (p.Ala347Pro) | |
| 1 | g.173904029C>T | CA1251225 | SERPINC1 | c.1255G>A (p.Ala419Thr) c.640G>A (p.Ala214Thr) c.1111G>A (p.Ala371Thr) c.1378G>A (p.Ala460Thr) c.1336G>A (p.Ala446Thr) c.1234G>A (p.Ala412Thr) c.1198G>A (p.Ala400Thr) c.1039G>A (p.Ala347Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904029_173904032dup | CA2582343014 | SERPINC1 | c.1252_1255dup (p.Ala419AspfsTer?) c.637_640dup (p.Ala214AspfsTer?) c.1108_1111dup (p.Ala371AspfsTer?) c.1375_1378dup (p.Ala460AspfsTer?) c.1333_1336dup (p.Ala446AspfsTer?) c.1231_1234dup (p.Ala412AspfsTer?) c.1195_1198dup (p.Ala400AspfsTer?) c.1036_1039dup (p.Ala347AspfsTer?) | |
| 1 | g.173904030G>A | CA1251226 | SERPINC1 | c.1254C>T (p.Thr418=) c.639C>T (p.Thr213=) c.1110C>T (p.Thr370=) c.1377C>T (p.Thr459=) c.1335C>T (p.Thr445=) c.1233C>T (p.Thr411=) c.1197C>T (p.Thr399=) c.1038C>T (p.Thr346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904030G>C | CA421821591 | SERPINC1 | c.1254C>G (p.Thr418=) c.639C>G (p.Thr213=) c.1110C>G (p.Thr370=) c.1377C>G (p.Thr459=) c.1335C>G (p.Thr445=) c.1233C>G (p.Thr411=) c.1197C>G (p.Thr399=) c.1038C>G (p.Thr346=) | |
| 1 | g.173904030G= | CA1146675498 | SERPINC1 | c.1254C= (p.Thr418=) c.639C= (p.Thr213=) c.1110C= (p.Thr370=) c.1377C= (p.Thr459=) c.1335C= (p.Thr445=) c.1233C= (p.Thr411=) c.1197C= (p.Thr399=) c.1038C= (p.Thr346=) | |
| 1 | g.173904030G>T | CA421821592 | SERPINC1 | c.1254C>A (p.Thr418=) c.639C>A (p.Thr213=) c.1110C>A (p.Thr370=) c.1377C>A (p.Thr459=) c.1335C>A (p.Thr445=) c.1233C>A (p.Thr411=) c.1197C>A (p.Thr399=) c.1038C>A (p.Thr346=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173904031G>A | CA1251227 | SERPINC1 | c.1253C>T (p.Thr418Ile) c.638C>T (p.Thr213Ile) c.1109C>T (p.Thr370Ile) c.1376C>T (p.Thr459Ile) c.1334C>T (p.Thr445Ile) c.1232C>T (p.Thr411Ile) c.1196C>T (p.Thr399Ile) c.1037C>T (p.Thr346Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.173904031G>C | CA343772627 | SERPINC1 | c.1253C>G (p.Thr418Ser) c.638C>G (p.Thr213Ser) c.1109C>G (p.Thr370Ser) c.1376C>G (p.Thr459Ser) c.1334C>G (p.Thr445Ser) c.1232C>G (p.Thr411Ser) c.1196C>G (p.Thr399Ser) c.1037C>G (p.Thr346Ser) | |
| 1 | g.173904031G= | CA1207934391 | SERPINC1 | c.1253C= (p.Thr418=) c.638C= (p.Thr213=) c.1109C= (p.Thr370=) c.1376C= (p.Thr459=) c.1334C= (p.Thr445=) c.1232C= (p.Thr411=) c.1196C= (p.Thr399=) c.1037C= (p.Thr346=) | |
| 1 | g.173904031G>T | CA343772628 | SERPINC1 | c.1253C>A (p.Thr418Asn) c.638C>A (p.Thr213Asn) c.1109C>A (p.Thr370Asn) c.1376C>A (p.Thr459Asn) c.1334C>A (p.Thr445Asn) c.1232C>A (p.Thr411Asn) c.1196C>A (p.Thr399Asn) c.1037C>A (p.Thr346Asn) | |
| 1 | g.173904032T>A | CA343772631 | SERPINC1 | c.1252A>T (p.Thr418Ser) c.637A>T (p.Thr213Ser) c.1108A>T (p.Thr370Ser) c.1375A>T (p.Thr459Ser) c.1333A>T (p.Thr445Ser) c.1231A>T (p.Thr411Ser) c.1195A>T (p.Thr399Ser) c.1036A>T (p.Thr346Ser) | |
| 1 | g.173904032T>C | CA343772630 | SERPINC1 | c.1252A>G (p.Thr418Ala) c.637A>G (p.Thr213Ala) c.1108A>G (p.Thr370Ala) c.1375A>G (p.Thr459Ala) c.1333A>G (p.Thr445Ala) c.1231A>G (p.Thr411Ala) c.1195A>G (p.Thr399Ala) c.1036A>G (p.Thr346Ala) | |
| 1 | g.173904032T>G | CA343772629 | SERPINC1 | c.1252A>C (p.Thr418Pro) c.637A>C (p.Thr213Pro) c.1108A>C (p.Thr370Pro) c.1375A>C (p.Thr459Pro) c.1333A>C (p.Thr445Pro) c.1231A>C (p.Thr411Pro) c.1195A>C (p.Thr399Pro) c.1036A>C (p.Thr346Pro) | |
| 1 | g.173904033A>C | CA343772632 | SERPINC1 | c.1251T>G (p.Ser417Arg) c.636T>G (p.Ser212Arg) c.1107T>G (p.Ser369Arg) c.1374T>G (p.Ser458Arg) c.1332T>G (p.Ser444Arg) c.1230T>G (p.Ser410Arg) c.1194T>G (p.Ser398Arg) c.1035T>G (p.Ser345Arg) | |
| 1 | g.173904033A>G | CA421821594 | SERPINC1 | c.1251T>C (p.Ser417=) c.636T>C (p.Ser212=) c.1107T>C (p.Ser369=) c.1374T>C (p.Ser458=) c.1332T>C (p.Ser444=) c.1230T>C (p.Ser410=) c.1194T>C (p.Ser398=) c.1035T>C (p.Ser345=) | |
| 1 | g.173904033A>T | CA343772633 | SERPINC1 | c.1251T>A (p.Ser417Arg) c.636T>A (p.Ser212Arg) c.1107T>A (p.Ser369Arg) c.1374T>A (p.Ser458Arg) c.1332T>A (p.Ser444Arg) c.1230T>A (p.Ser410Arg) c.1194T>A (p.Ser398Arg) c.1035T>A (p.Ser345Arg) | |
| 1 | g.173904034C>A | CA343772634 | SERPINC1 | c.1250G>T (p.Ser417Ile) c.635G>T (p.Ser212Ile) c.1106G>T (p.Ser369Ile) c.1373G>T (p.Ser458Ile) c.1331G>T (p.Ser444Ile) c.1229G>T (p.Ser410Ile) c.1193G>T (p.Ser398Ile) c.1034G>T (p.Ser345Ile) | |
| 1 | g.173904034C= | CA1207934392 | SERPINC1 | c.1250G= (p.Ser417=) c.635G= (p.Ser212=) c.1106G= (p.Ser369=) c.1373G= (p.Ser458=) c.1331G= (p.Ser444=) c.1229G= (p.Ser410=) c.1193G= (p.Ser398=) c.1034G= (p.Ser345=) | |
| 1 | g.173904034C>G | CA343772635 | SERPINC1 | c.1250G>C (p.Ser417Thr) c.635G>C (p.Ser212Thr) c.1106G>C (p.Ser369Thr) c.1373G>C (p.Ser458Thr) c.1331G>C (p.Ser444Thr) c.1229G>C (p.Ser410Thr) c.1193G>C (p.Ser398Thr) c.1034G>C (p.Ser345Thr) | |
| 1 | g.173904034C>T | CA1251228 | SERPINC1 | c.1250G>A (p.Ser417Asn) c.635G>A (p.Ser212Asn) c.1106G>A (p.Ser369Asn) c.1373G>A (p.Ser458Asn) c.1331G>A (p.Ser444Asn) c.1229G>A (p.Ser410Asn) c.1193G>A (p.Ser398Asn) c.1034G>A (p.Ser345Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173904035T>A | CA343772636 | SERPINC1 | c.1249A>T (p.Ser417Cys) c.634A>T (p.Ser212Cys) c.1105A>T (p.Ser369Cys) c.1372A>T (p.Ser458Cys) c.1330A>T (p.Ser444Cys) c.1228A>T (p.Ser410Cys) c.1192A>T (p.Ser398Cys) c.1033A>T (p.Ser345Cys) | |
| 1 | g.173904035T>C | CA343772637 | SERPINC1 | c.1249A>G (p.Ser417Gly) c.634A>G (p.Ser212Gly) c.1105A>G (p.Ser369Gly) c.1372A>G (p.Ser458Gly) c.1330A>G (p.Ser444Gly) c.1228A>G (p.Ser410Gly) c.1192A>G (p.Ser398Gly) c.1033A>G (p.Ser345Gly) | |
| 1 | g.173904035T>G | CA343772638 | SERPINC1 | c.1249A>C (p.Ser417Arg) c.634A>C (p.Ser212Arg) c.1105A>C (p.Ser369Arg) c.1372A>C (p.Ser458Arg) c.1330A>C (p.Ser444Arg) c.1228A>C (p.Ser410Arg) c.1192A>C (p.Ser398Arg) c.1033A>C (p.Ser345Arg) | |
| 1 | g.173904036T>A | CA421821597 | SERPINC1 | c.1248A>T (p.Ala416=) c.633A>T (p.Ala211=) c.1104A>T (p.Ala368=) c.1371A>T (p.Ala457=) c.1329A>T (p.Ala443=) c.1227A>T (p.Ala409=) c.1191A>T (p.Ala397=) c.1032A>T (p.Ala344=) | |
| 1 | g.173904036T>C | CA421821598 | SERPINC1 | c.1248A>G (p.Ala416=) c.633A>G (p.Ala211=) c.1104A>G (p.Ala368=) c.1371A>G (p.Ala457=) c.1329A>G (p.Ala443=) c.1227A>G (p.Ala409=) c.1191A>G (p.Ala397=) c.1032A>G (p.Ala344=) | dbSNP |
| 1 | g.173904036T>G | CA421821599 | SERPINC1 | c.1248A>C (p.Ala416=) c.633A>C (p.Ala211=) c.1104A>C (p.Ala368=) c.1371A>C (p.Ala457=) c.1329A>C (p.Ala443=) c.1227A>C (p.Ala409=) c.1191A>C (p.Ala397=) c.1032A>C (p.Ala344=) | |
| 1 | g.173904036T= | CA1207934393 | SERPINC1 | c.1248A= (p.Ala416=) c.633A= (p.Ala211=) c.1104A= (p.Ala368=) c.1371A= (p.Ala457=) c.1329A= (p.Ala443=) c.1227A= (p.Ala409=) c.1191A= (p.Ala397=) c.1032A= (p.Ala344=) | |
| 1 | g.173904041_173904071del | CA2579754000 | SERPINC1 | c.1219-1_1248del c.604-1_633del c.1075-1_1104del c.1342-1_1371del c.1300-1_1329del c.1198-1_1227del c.1162-1_1191del c.1003-1_1032del | |
| 1 | g.173904037G>A | CA343772639 | SERPINC1 | c.1247C>T (p.Ala416Val) c.632C>T (p.Ala211Val) c.1103C>T (p.Ala368Val) c.1370C>T (p.Ala457Val) c.1328C>T (p.Ala443Val) c.1226C>T (p.Ala409Val) c.1190C>T (p.Ala397Val) c.1031C>T (p.Ala344Val) | |
| 1 | g.173904037G>C | CA343772640 | SERPINC1 | c.1247C>G (p.Ala416Gly) c.632C>G (p.Ala211Gly) c.1103C>G (p.Ala368Gly) c.1370C>G (p.Ala457Gly) c.1328C>G (p.Ala443Gly) c.1226C>G (p.Ala409Gly) c.1190C>G (p.Ala397Gly) c.1031C>G (p.Ala344Gly) | |
| 1 | g.173904037G>T | CA343772641 | SERPINC1 | c.1247C>A (p.Ala416Glu) c.632C>A (p.Ala211Glu) c.1103C>A (p.Ala368Glu) c.1370C>A (p.Ala457Glu) c.1328C>A (p.Ala443Glu) c.1226C>A (p.Ala409Glu) c.1190C>A (p.Ala397Glu) c.1031C>A (p.Ala344Glu) | |
| 1 | g.173904037dup | CA2580061383 | SERPINC1 | c.1247dup (p.Ser417LysfsTer?) c.632dup (p.Ser212LysfsTer?) c.1103dup (p.Ser369LysfsTer?) c.1370dup (p.Ser458LysfsTer?) c.1328dup (p.Ser444LysfsTer?) c.1226dup (p.Ser410LysfsTer?) c.1190dup (p.Ser398LysfsTer?) c.1031dup (p.Ser345LysfsTer?) | ClinVar |
| 1 | g.173904038C>A | CA211880 | SERPINC1 | c.1246G>T (p.Ala416Ser) c.631G>T (p.Ala211Ser) c.1102G>T (p.Ala368Ser) c.1369G>T (p.Ala457Ser) c.1327G>T (p.Ala443Ser) c.1225G>T (p.Ala409Ser) c.1189G>T (p.Ala397Ser) c.1030G>T (p.Ala344Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904038C= | CA1141581242 | SERPINC1 | c.1246G= (p.Ala416=) c.631G= (p.Ala211=) c.1102G= (p.Ala368=) c.1369G= (p.Ala457=) c.1327G= (p.Ala443=) c.1225G= (p.Ala409=) c.1189G= (p.Ala397=) c.1030G= (p.Ala344=) | |
| 1 | g.173904038C>G | CA210750 | SERPINC1 | c.1246G>C (p.Ala416Pro) c.631G>C (p.Ala211Pro) c.1102G>C (p.Ala368Pro) c.1369G>C (p.Ala457Pro) c.1327G>C (p.Ala443Pro) c.1225G>C (p.Ala409Pro) c.1189G>C (p.Ala397Pro) c.1030G>C (p.Ala344Pro) | ClinVar dbSNP |
| 1 | g.173904038C>T | CA343772642 | SERPINC1 | c.1246G>A (p.Ala416Thr) c.631G>A (p.Ala211Thr) c.1102G>A (p.Ala368Thr) c.1369G>A (p.Ala457Thr) c.1327G>A (p.Ala443Thr) c.1225G>A (p.Ala409Thr) c.1189G>A (p.Ala397Thr) c.1030G>A (p.Ala344Thr) | |
| 1 | g.173904039A>C | CA421821601 | SERPINC1 | c.1245T>G (p.Ala415=) c.630T>G (p.Ala210=) c.1101T>G (p.Ala367=) c.1368T>G (p.Ala456=) c.1326T>G (p.Ala442=) c.1224T>G (p.Ala408=) c.1188T>G (p.Ala396=) c.1029T>G (p.Ala343=) | |
| 1 | g.173904039A>G | CA421821602 | SERPINC1 | c.1245T>C (p.Ala415=) c.630T>C (p.Ala210=) c.1101T>C (p.Ala367=) c.1368T>C (p.Ala456=) c.1326T>C (p.Ala442=) c.1224T>C (p.Ala408=) c.1188T>C (p.Ala396=) c.1029T>C (p.Ala343=) | gnomAD v4 |
| 1 | g.173904039A>T | CA421821604 | SERPINC1 | c.1245T>A (p.Ala415=) c.630T>A (p.Ala210=) c.1101T>A (p.Ala367=) c.1368T>A (p.Ala456=) c.1326T>A (p.Ala442=) c.1224T>A (p.Ala408=) c.1188T>A (p.Ala396=) c.1029T>A (p.Ala343=) | |
| 1 | g.173904040G>A | CA343772643 | SERPINC1 | c.1244C>T (p.Ala415Val) c.629C>T (p.Ala210Val) c.1100C>T (p.Ala367Val) c.1367C>T (p.Ala456Val) c.1325C>T (p.Ala442Val) c.1223C>T (p.Ala408Val) c.1187C>T (p.Ala396Val) c.1028C>T (p.Ala343Val) | |
| 1 | g.173904040G>C | CA343772644 | SERPINC1 | c.1244C>G (p.Ala415Gly) c.629C>G (p.Ala210Gly) c.1100C>G (p.Ala367Gly) c.1367C>G (p.Ala456Gly) c.1325C>G (p.Ala442Gly) c.1223C>G (p.Ala408Gly) c.1187C>G (p.Ala396Gly) c.1028C>G (p.Ala343Gly) | |
| 1 | g.173904040G>T | CA343772645 | SERPINC1 | c.1244C>A (p.Ala415Asp) c.629C>A (p.Ala210Asp) c.1100C>A (p.Ala367Asp) c.1367C>A (p.Ala456Asp) c.1325C>A (p.Ala442Asp) c.1223C>A (p.Ala408Asp) c.1187C>A (p.Ala396Asp) c.1028C>A (p.Ala343Asp) | COSMIC |
| 1 | g.173904041C>A | CA343772646 | SERPINC1 | c.1243G>T (p.Ala415Ser) c.628G>T (p.Ala210Ser) c.1099G>T (p.Ala367Ser) c.1366G>T (p.Ala456Ser) c.1324G>T (p.Ala442Ser) c.1222G>T (p.Ala408Ser) c.1186G>T (p.Ala396Ser) c.1027G>T (p.Ala343Ser) | |
| 1 | g.173904041C>G | CA343772647 | SERPINC1 | c.1243G>C (p.Ala415Pro) c.628G>C (p.Ala210Pro) c.1099G>C (p.Ala367Pro) c.1366G>C (p.Ala456Pro) c.1324G>C (p.Ala442Pro) c.1222G>C (p.Ala408Pro) c.1186G>C (p.Ala396Pro) c.1027G>C (p.Ala343Pro) | |
| 1 | g.173904041C>T | CA343772648 | SERPINC1 | c.1243G>A (p.Ala415Thr) c.628G>A (p.Ala210Thr) c.1099G>A (p.Ala367Thr) c.1366G>A (p.Ala456Thr) c.1324G>A (p.Ala442Thr) c.1222G>A (p.Ala408Thr) c.1186G>A (p.Ala396Thr) c.1027G>A (p.Ala343Thr) | |
| 1 | g.173904042T>A | CA1251229 | SERPINC1 | c.1242A>T (p.Ala414=) c.627A>T (p.Ala209=) c.1098A>T (p.Ala366=) c.1365A>T (p.Ala455=) c.1323A>T (p.Ala441=) c.1221A>T (p.Ala407=) c.1185A>T (p.Ala395=) c.1026A>T (p.Ala342=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904042T>C | CA421821605 | SERPINC1 | c.1242A>G (p.Ala414=) c.627A>G (p.Ala209=) c.1098A>G (p.Ala366=) c.1365A>G (p.Ala455=) c.1323A>G (p.Ala441=) c.1221A>G (p.Ala407=) c.1185A>G (p.Ala395=) c.1026A>G (p.Ala342=) | |
| 1 | g.173904042T>G | CA421821606 | SERPINC1 | c.1242A>C (p.Ala414=) c.627A>C (p.Ala209=) c.1098A>C (p.Ala366=) c.1365A>C (p.Ala455=) c.1323A>C (p.Ala441=) c.1221A>C (p.Ala407=) c.1185A>C (p.Ala395=) c.1026A>C (p.Ala342=) | |
| 1 | g.173904042T= | CA1207934394 | SERPINC1 | c.1242A= (p.Ala414=) c.627A= (p.Ala209=) c.1098A= (p.Ala366=) c.1365A= (p.Ala455=) c.1323A= (p.Ala441=) c.1221A= (p.Ala407=) c.1185A= (p.Ala395=) c.1026A= (p.Ala342=) | |
| 1 | g.173904043G>A | CA343772649 | SERPINC1 | c.1241C>T (p.Ala414Val) c.626C>T (p.Ala209Val) c.1097C>T (p.Ala366Val) c.1364C>T (p.Ala455Val) c.1322C>T (p.Ala441Val) c.1220C>T (p.Ala407Val) c.1184C>T (p.Ala395Val) c.1025C>T (p.Ala342Val) | |
| 1 | g.173904043G>C | CA343772650 | SERPINC1 | c.1241C>G (p.Ala414Gly) c.626C>G (p.Ala209Gly) c.1097C>G (p.Ala366Gly) c.1364C>G (p.Ala455Gly) c.1322C>G (p.Ala441Gly) c.1220C>G (p.Ala407Gly) c.1184C>G (p.Ala395Gly) c.1025C>G (p.Ala342Gly) | |
| 1 | g.173904043G>T | CA343772651 | SERPINC1 | c.1241C>A (p.Ala414Glu) c.626C>A (p.Ala209Glu) c.1097C>A (p.Ala366Glu) c.1364C>A (p.Ala455Glu) c.1322C>A (p.Ala441Glu) c.1220C>A (p.Ala407Glu) c.1184C>A (p.Ala395Glu) c.1025C>A (p.Ala342Glu) | |
| 1 | g.173904044C>A | CA343772652 | SERPINC1 | c.1240G>T (p.Ala414Ser) c.625G>T (p.Ala209Ser) c.1096G>T (p.Ala366Ser) c.1363G>T (p.Ala455Ser) c.1321G>T (p.Ala441Ser) c.1219G>T (p.Ala407Ser) c.1183G>T (p.Ala395Ser) c.1024G>T (p.Ala342Ser) | |
| 1 | g.173904044C= | CA1141581243 | SERPINC1 | c.1240G= (p.Ala414=) c.625G= (p.Ala209=) c.1096G= (p.Ala366=) c.1363G= (p.Ala455=) c.1321G= (p.Ala441=) c.1219G= (p.Ala407=) c.1183G= (p.Ala395=) c.1024G= (p.Ala342=) | |
| 1 | g.173904044C>G | CA343772653 | SERPINC1 | c.1240G>C (p.Ala414Pro) c.625G>C (p.Ala209Pro) c.1096G>C (p.Ala366Pro) c.1363G>C (p.Ala455Pro) c.1321G>C (p.Ala441Pro) c.1219G>C (p.Ala407Pro) c.1183G>C (p.Ala395Pro) c.1024G>C (p.Ala342Pro) | |
| 1 | g.173904044C>T | CA210768 | SERPINC1 | c.1240G>A (p.Ala414Thr) c.625G>A (p.Ala209Thr) c.1096G>A (p.Ala366Thr) c.1363G>A (p.Ala455Thr) c.1321G>A (p.Ala441Thr) c.1219G>A (p.Ala407Thr) c.1183G>A (p.Ala395Thr) c.1024G>A (p.Ala342Thr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173904045_173904047del | CA2586967711 | SERPINC1 | c.1238_1240del (p.Glu413del) c.623_625del (p.Glu208del) c.1094_1096del (p.Glu365del) c.1361_1363del (p.Glu454del) c.1319_1321del (p.Glu440del) c.1217_1219del (p.Glu406del) c.1181_1183del (p.Glu394del) c.1022_1024del (p.Glu341del) | |
| 1 | g.173904045T>A | CA343772654 | SERPINC1 | c.1239A>T (p.Glu413Asp) c.624A>T (p.Glu208Asp) c.1095A>T (p.Glu365Asp) c.1362A>T (p.Glu454Asp) c.1320A>T (p.Glu440Asp) c.1218A>T (p.Glu406Asp) c.1182A>T (p.Glu394Asp) c.1023A>T (p.Glu341Asp) | |
| 1 | g.173904045T>C | CA421821610 | SERPINC1 | c.1239A>G (p.Glu413=) c.624A>G (p.Glu208=) c.1095A>G (p.Glu365=) c.1362A>G (p.Glu454=) c.1320A>G (p.Glu440=) c.1218A>G (p.Glu406=) c.1182A>G (p.Glu394=) c.1023A>G (p.Glu341=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904045T>G | CA343772655 | SERPINC1 | c.1239A>C (p.Glu413Asp) c.624A>C (p.Glu208Asp) c.1095A>C (p.Glu365Asp) c.1362A>C (p.Glu454Asp) c.1320A>C (p.Glu440Asp) c.1218A>C (p.Glu406Asp) c.1182A>C (p.Glu394Asp) c.1023A>C (p.Glu341Asp) | dbSNP |
| 1 | g.173904045T= | CA1207934395 | SERPINC1 | c.1239A= (p.Glu413=) c.624A= (p.Glu208=) c.1095A= (p.Glu365=) c.1362A= (p.Glu454=) c.1320A= (p.Glu440=) c.1218A= (p.Glu406=) c.1182A= (p.Glu394=) c.1023A= (p.Glu341=) | |
| 1 | g.173904046T>A | CA343772656 | SERPINC1 | c.1238A>T (p.Glu413Val) c.623A>T (p.Glu208Val) c.1094A>T (p.Glu365Val) c.1361A>T (p.Glu454Val) c.1319A>T (p.Glu440Val) c.1217A>T (p.Glu406Val) c.1181A>T (p.Glu394Val) c.1022A>T (p.Glu341Val) | |
| 1 | g.173904046T>C | CA343772657 | SERPINC1 | c.1238A>G (p.Glu413Gly) c.623A>G (p.Glu208Gly) c.1094A>G (p.Glu365Gly) c.1361A>G (p.Glu454Gly) c.1319A>G (p.Glu440Gly) c.1217A>G (p.Glu406Gly) c.1181A>G (p.Glu394Gly) c.1022A>G (p.Glu341Gly) | |
| 1 | g.173904046T>G | CA343772658 | SERPINC1 | c.1238A>C (p.Glu413Ala) c.623A>C (p.Glu208Ala) c.1094A>C (p.Glu365Ala) c.1361A>C (p.Glu454Ala) c.1319A>C (p.Glu440Ala) c.1217A>C (p.Glu406Ala) c.1181A>C (p.Glu394Ala) c.1022A>C (p.Glu341Ala) | |
| 1 | g.173904047C>A | CA343772659 | SERPINC1 | c.1237G>T (p.Glu413Ter) c.622G>T (p.Glu208Ter) c.1093G>T (p.Glu365Ter) c.1360G>T (p.Glu454Ter) c.1318G>T (p.Glu440Ter) c.1216G>T (p.Glu406Ter) c.1180G>T (p.Glu394Ter) c.1021G>T (p.Glu341Ter) | |
| 1 | g.173904047C= | CA1148451442 | SERPINC1 | c.1237G= (p.Glu413=) c.622G= (p.Glu208=) c.1093G= (p.Glu365=) c.1360G= (p.Glu454=) c.1318G= (p.Glu440=) c.1216G= (p.Glu406=) c.1180G= (p.Glu394=) c.1021G= (p.Glu341=) | |
| 1 | g.173904047C>G | CA343772660 | SERPINC1 | c.1237G>C (p.Glu413Gln) c.622G>C (p.Glu208Gln) c.1093G>C (p.Glu365Gln) c.1360G>C (p.Glu454Gln) c.1318G>C (p.Glu440Gln) c.1216G>C (p.Glu406Gln) c.1180G>C (p.Glu394Gln) c.1021G>C (p.Glu341Gln) | |
| 1 | g.173904047C>T | CA1251230 | SERPINC1 | c.1237G>A (p.Glu413Lys) c.622G>A (p.Glu208Lys) c.1093G>A (p.Glu365Lys) c.1360G>A (p.Glu454Lys) c.1318G>A (p.Glu440Lys) c.1216G>A (p.Glu406Lys) c.1180G>A (p.Glu394Lys) c.1021G>A (p.Glu341Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173904048A>C | CA343772661 | SERPINC1 | c.1236T>G (p.Ser412Arg) c.621T>G (p.Ser207Arg) c.1092T>G (p.Ser364Arg) c.1359T>G (p.Ser453Arg) c.1317T>G (p.Ser439Arg) c.1215T>G (p.Ser405Arg) c.1179T>G (p.Ser393Arg) c.1020T>G (p.Ser340Arg) | |
| 1 | g.173904048A>G | CA421821614 | SERPINC1 | c.1236T>C (p.Ser412=) c.621T>C (p.Ser207=) c.1092T>C (p.Ser364=) c.1359T>C (p.Ser453=) c.1317T>C (p.Ser439=) c.1215T>C (p.Ser405=) c.1179T>C (p.Ser393=) c.1020T>C (p.Ser340=) | |
| 1 | g.173904048A>T | CA343772662 | SERPINC1 | c.1236T>A (p.Ser412Arg) c.621T>A (p.Ser207Arg) c.1092T>A (p.Ser364Arg) c.1359T>A (p.Ser453Arg) c.1317T>A (p.Ser439Arg) c.1215T>A (p.Ser405Arg) c.1179T>A (p.Ser393Arg) c.1020T>A (p.Ser340Arg) | |
| 1 | g.173904049C>A | CA343772663 | SERPINC1 | c.1235G>T (p.Ser412Ile) c.620G>T (p.Ser207Ile) c.1091G>T (p.Ser364Ile) c.1358G>T (p.Ser453Ile) c.1316G>T (p.Ser439Ile) c.1214G>T (p.Ser405Ile) c.1178G>T (p.Ser393Ile) c.1019G>T (p.Ser340Ile) | |
| 1 | g.173904049C= | CA1207934396 | SERPINC1 | c.1235G= (p.Ser412=) c.620G= (p.Ser207=) c.1091G= (p.Ser364=) c.1358G= (p.Ser453=) c.1316G= (p.Ser439=) c.1214G= (p.Ser405=) c.1178G= (p.Ser393=) c.1019G= (p.Ser340=) | |
| 1 | g.173904049C>G | CA343772664 | SERPINC1 | c.1235G>C (p.Ser412Thr) c.620G>C (p.Ser207Thr) c.1091G>C (p.Ser364Thr) c.1358G>C (p.Ser453Thr) c.1316G>C (p.Ser439Thr) c.1214G>C (p.Ser405Thr) c.1178G>C (p.Ser393Thr) c.1019G>C (p.Ser340Thr) | |
| 1 | g.173904049C>T | CA343772665 | SERPINC1 | c.1235G>A (p.Ser412Asn) c.620G>A (p.Ser207Asn) c.1091G>A (p.Ser364Asn) c.1358G>A (p.Ser453Asn) c.1316G>A (p.Ser439Asn) c.1214G>A (p.Ser405Asn) c.1178G>A (p.Ser393Asn) c.1019G>A (p.Ser340Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173904050T>A | CA343772667 | SERPINC1 | c.1234A>T (p.Ser412Cys) c.619A>T (p.Ser207Cys) c.1090A>T (p.Ser364Cys) c.1357A>T (p.Ser453Cys) c.1315A>T (p.Ser439Cys) c.1213A>T (p.Ser405Cys) c.1177A>T (p.Ser393Cys) c.1018A>T (p.Ser340Cys) | |
| 1 | g.173904050T>C | CA343772668 | SERPINC1 | c.1234A>G (p.Ser412Gly) c.619A>G (p.Ser207Gly) c.1090A>G (p.Ser364Gly) c.1357A>G (p.Ser453Gly) c.1315A>G (p.Ser439Gly) c.1213A>G (p.Ser405Gly) c.1177A>G (p.Ser393Gly) c.1018A>G (p.Ser340Gly) | |
| 1 | g.173904050T>G | CA343772666 | SERPINC1 | c.1234A>C (p.Ser412Arg) c.619A>C (p.Ser207Arg) c.1090A>C (p.Ser364Arg) c.1357A>C (p.Ser453Arg) c.1315A>C (p.Ser439Arg) c.1213A>C (p.Ser405Arg) c.1177A>C (p.Ser393Arg) c.1018A>C (p.Ser340Arg) | |
| 1 | g.173904051G>A | CA421821615 | SERPINC1 | c.1233C>T (p.Gly411=) c.618C>T (p.Gly206=) c.1089C>T (p.Gly363=) c.1356C>T (p.Gly452=) c.1314C>T (p.Gly438=) c.1212C>T (p.Gly404=) c.1176C>T (p.Gly392=) c.1017C>T (p.Gly339=) | |
| 1 | g.173904051G>C | CA421821617 | SERPINC1 | c.1233C>G (p.Gly411=) c.618C>G (p.Gly206=) c.1089C>G (p.Gly363=) c.1356C>G (p.Gly452=) c.1314C>G (p.Gly438=) c.1212C>G (p.Gly404=) c.1176C>G (p.Gly392=) c.1017C>G (p.Gly339=) | |
| 1 | g.173904051G>T | CA421821616 | SERPINC1 | c.1233C>A (p.Gly411=) c.618C>A (p.Gly206=) c.1089C>A (p.Gly363=) c.1356C>A (p.Gly452=) c.1314C>A (p.Gly438=) c.1212C>A (p.Gly404=) c.1176C>A (p.Gly392=) c.1017C>A (p.Gly339=) | |
| 1 | g.173904052C>A | CA343772671 | SERPINC1 | c.1232G>T (p.Gly411Val) c.617G>T (p.Gly206Val) c.1088G>T (p.Gly363Val) c.1355G>T (p.Gly452Val) c.1313G>T (p.Gly438Val) c.1211G>T (p.Gly404Val) c.1175G>T (p.Gly392Val) c.1016G>T (p.Gly339Val) | COSMIC |
| 1 | g.173904052C>G | CA343772669 | SERPINC1 | c.1232G>C (p.Gly411Ala) c.617G>C (p.Gly206Ala) c.1088G>C (p.Gly363Ala) c.1355G>C (p.Gly452Ala) c.1313G>C (p.Gly438Ala) c.1211G>C (p.Gly404Ala) c.1175G>C (p.Gly392Ala) c.1016G>C (p.Gly339Ala) | |
| 1 | g.173904052C>T | CA343772670 | SERPINC1 | c.1232G>A (p.Gly411Asp) c.617G>A (p.Gly206Asp) c.1088G>A (p.Gly363Asp) c.1355G>A (p.Gly452Asp) c.1313G>A (p.Gly438Asp) c.1211G>A (p.Gly404Asp) c.1175G>A (p.Gly392Asp) c.1016G>A (p.Gly339Asp) | |
| 1 | g.173904053C>A | CA343772672 | SERPINC1 | c.1231G>T (p.Gly411Cys) c.616G>T (p.Gly206Cys) c.1087G>T (p.Gly363Cys) c.1354G>T (p.Gly452Cys) c.1312G>T (p.Gly438Cys) c.1210G>T (p.Gly404Cys) c.1174G>T (p.Gly392Cys) c.1015G>T (p.Gly339Cys) | |
| 1 | g.173904053C>G | CA343772673 | SERPINC1 | c.1231G>C (p.Gly411Arg) c.616G>C (p.Gly206Arg) c.1087G>C (p.Gly363Arg) c.1354G>C (p.Gly452Arg) c.1312G>C (p.Gly438Arg) c.1210G>C (p.Gly404Arg) c.1174G>C (p.Gly392Arg) c.1015G>C (p.Gly339Arg) | ClinVar dbSNP |
| 1 | g.173904053C>T | CA343772674 | SERPINC1 | c.1231G>A (p.Gly411Ser) c.616G>A (p.Gly206Ser) c.1087G>A (p.Gly363Ser) c.1354G>A (p.Gly452Ser) c.1312G>A (p.Gly438Ser) c.1210G>A (p.Gly404Ser) c.1174G>A (p.Gly392Ser) c.1015G>A (p.Gly339Ser) | |
| 1 | g.173904054T>A | CA343772675 | SERPINC1 | c.1230A>T (p.Glu410Asp) c.615A>T (p.Glu205Asp) c.1086A>T (p.Glu362Asp) c.1353A>T (p.Glu451Asp) c.1311A>T (p.Glu437Asp) c.1209A>T (p.Glu403Asp) c.1173A>T (p.Glu391Asp) c.1014A>T (p.Glu338Asp) | |
| 1 | g.173904054T>C | CA421821618 | SERPINC1 | c.1230A>G (p.Glu410=) c.615A>G (p.Glu205=) c.1086A>G (p.Glu362=) c.1353A>G (p.Glu451=) c.1311A>G (p.Glu437=) c.1209A>G (p.Glu403=) c.1173A>G (p.Glu391=) c.1014A>G (p.Glu338=) | |
| 1 | g.173904054T>G | CA343772676 | SERPINC1 | c.1230A>C (p.Glu410Asp) c.615A>C (p.Glu205Asp) c.1086A>C (p.Glu362Asp) c.1353A>C (p.Glu451Asp) c.1311A>C (p.Glu437Asp) c.1209A>C (p.Glu403Asp) c.1173A>C (p.Glu391Asp) c.1014A>C (p.Glu338Asp) | gnomAD v4 |
| 1 | g.173904054_173904067del | CA2586967712 | SERPINC1 | c.1219-2_1230del c.604-2_615del c.1075-2_1086del c.1342-2_1353del c.1300-2_1311del c.1198-2_1209del c.1162-2_1173del c.1003-2_1014del | |
| 1 | g.173904055T>A | CA343772677 | SERPINC1 | c.1229A>T (p.Glu410Val) c.614A>T (p.Glu205Val) c.1085A>T (p.Glu362Val) c.1352A>T (p.Glu451Val) c.1310A>T (p.Glu437Val) c.1208A>T (p.Glu403Val) c.1172A>T (p.Glu391Val) c.1013A>T (p.Glu338Val) | |
| 1 | g.173904055T>C | CA343772678 | SERPINC1 | c.1229A>G (p.Glu410Gly) c.614A>G (p.Glu205Gly) c.1085A>G (p.Glu362Gly) c.1352A>G (p.Glu451Gly) c.1310A>G (p.Glu437Gly) c.1208A>G (p.Glu403Gly) c.1172A>G (p.Glu391Gly) c.1013A>G (p.Glu338Gly) | gnomAD v4 |
| 1 | g.173904055T>G | CA343772679 | SERPINC1 | c.1229A>C (p.Glu410Ala) c.614A>C (p.Glu205Ala) c.1085A>C (p.Glu362Ala) c.1352A>C (p.Glu451Ala) c.1310A>C (p.Glu437Ala) c.1208A>C (p.Glu403Ala) c.1172A>C (p.Glu391Ala) c.1013A>C (p.Glu338Ala) | |
| 1 | g.173904056C>A | CA343772680 | SERPINC1 | c.1228G>T (p.Glu410Ter) c.613G>T (p.Glu205Ter) c.1084G>T (p.Glu362Ter) c.1351G>T (p.Glu451Ter) c.1309G>T (p.Glu437Ter) c.1207G>T (p.Glu403Ter) c.1171G>T (p.Glu391Ter) c.1012G>T (p.Glu338Ter) | |
| 1 | g.173904056C>G | CA343772681 | SERPINC1 | c.1228G>C (p.Glu410Gln) c.613G>C (p.Glu205Gln) c.1084G>C (p.Glu362Gln) c.1351G>C (p.Glu451Gln) c.1309G>C (p.Glu437Gln) c.1207G>C (p.Glu403Gln) c.1171G>C (p.Glu391Gln) c.1012G>C (p.Glu338Gln) | gnomAD v4 |
| 1 | g.173904056C>T | CA343772682 | SERPINC1 | c.1228G>A (p.Glu410Lys) c.613G>A (p.Glu205Lys) c.1084G>A (p.Glu362Lys) c.1351G>A (p.Glu451Lys) c.1309G>A (p.Glu437Lys) c.1207G>A (p.Glu403Lys) c.1171G>A (p.Glu391Lys) c.1012G>A (p.Glu338Lys) | |
| 1 | g.173904057T>A | CA343772684 | SERPINC1 | c.1227A>T (p.Glu409Asp) c.612A>T (p.Glu204Asp) c.1083A>T (p.Glu361Asp) c.1350A>T (p.Glu450Asp) c.1308A>T (p.Glu436Asp) c.1206A>T (p.Glu402Asp) c.1170A>T (p.Glu390Asp) c.1011A>T (p.Glu337Asp) | |
| 1 | g.173904057T>C | CA421821620 | SERPINC1 | c.1227A>G (p.Glu409=) c.612A>G (p.Glu204=) c.1083A>G (p.Glu361=) c.1350A>G (p.Glu450=) c.1308A>G (p.Glu436=) c.1206A>G (p.Glu402=) c.1170A>G (p.Glu390=) c.1011A>G (p.Glu337=) | |
| 1 | g.173904057T>G | CA343772683 | SERPINC1 | c.1227A>C (p.Glu409Asp) c.612A>C (p.Glu204Asp) c.1083A>C (p.Glu361Asp) c.1350A>C (p.Glu450Asp) c.1308A>C (p.Glu436Asp) c.1206A>C (p.Glu402Asp) c.1170A>C (p.Glu390Asp) c.1011A>C (p.Glu337Asp) | |
| 1 | g.173904058T>A | CA343772685 | SERPINC1 | c.1226A>T (p.Glu409Val) c.611A>T (p.Glu204Val) c.1082A>T (p.Glu361Val) c.1349A>T (p.Glu450Val) c.1307A>T (p.Glu436Val) c.1205A>T (p.Glu402Val) c.1169A>T (p.Glu390Val) c.1010A>T (p.Glu337Val) | |
| 1 | g.173904058T>C | CA343772686 | SERPINC1 | c.1226A>G (p.Glu409Gly) c.611A>G (p.Glu204Gly) c.1082A>G (p.Glu361Gly) c.1349A>G (p.Glu450Gly) c.1307A>G (p.Glu436Gly) c.1205A>G (p.Glu402Gly) c.1169A>G (p.Glu390Gly) c.1010A>G (p.Glu337Gly) | |
| 1 | g.173904058T>G | CA343772687 | SERPINC1 | c.1226A>C (p.Glu409Ala) c.611A>C (p.Glu204Ala) c.1082A>C (p.Glu361Ala) c.1349A>C (p.Glu450Ala) c.1307A>C (p.Glu436Ala) c.1205A>C (p.Glu402Ala) c.1169A>C (p.Glu390Ala) c.1010A>C (p.Glu337Ala) | |
| 1 | g.173904059_173904061del | CA2580060336 | SERPINC1 | c.1224_1226del (p.Asn408_Glu409delinsLys) c.609_611del (p.Asn203_Glu204delinsLys) c.1080_1082del (p.Asn360_Glu361delinsLys) c.1347_1349del (p.Asn449_Glu450delinsLys) c.1305_1307del (p.Asn435_Glu436delinsLys) c.1203_1205del (p.Asn401_Glu402delinsLys) c.1167_1169del (p.Asn389_Glu390delinsLys) c.1008_1010del (p.Asn336_Glu337delinsLys) | |
| 1 | g.173904059C>A | CA343772688 | SERPINC1 | c.1225G>T (p.Glu409Ter) c.610G>T (p.Glu204Ter) c.1081G>T (p.Glu361Ter) c.1348G>T (p.Glu450Ter) c.1306G>T (p.Glu436Ter) c.1204G>T (p.Glu402Ter) c.1168G>T (p.Glu390Ter) c.1009G>T (p.Glu337Ter) | gnomAD v4 |
| 1 | g.173904059C>G | CA343772689 | SERPINC1 | c.1225G>C (p.Glu409Gln) c.610G>C (p.Glu204Gln) c.1081G>C (p.Glu361Gln) c.1348G>C (p.Glu450Gln) c.1306G>C (p.Glu436Gln) c.1204G>C (p.Glu402Gln) c.1168G>C (p.Glu390Gln) c.1009G>C (p.Glu337Gln) | |
| 1 | g.173904059C>T | CA343772690 | SERPINC1 | c.1225G>A (p.Glu409Lys) c.610G>A (p.Glu204Lys) c.1081G>A (p.Glu361Lys) c.1348G>A (p.Glu450Lys) c.1306G>A (p.Glu436Lys) c.1204G>A (p.Glu402Lys) c.1168G>A (p.Glu390Lys) c.1009G>A (p.Glu337Lys) | |
| 1 | g.173904060A= | CA1143481409 | SERPINC1 | c.1224T= (p.Asn408=) c.609T= (p.Asn203=) c.1080T= (p.Asn360=) c.1347T= (p.Asn449=) c.1305T= (p.Asn435=) c.1203T= (p.Asn401=) c.1167T= (p.Asn389=) c.1008T= (p.Asn336=) | |
| 1 | g.173904060A>C | CA343772691 | SERPINC1 | c.1224T>G (p.Asn408Lys) c.609T>G (p.Asn203Lys) c.1080T>G (p.Asn360Lys) c.1347T>G (p.Asn449Lys) c.1305T>G (p.Asn435Lys) c.1203T>G (p.Asn401Lys) c.1167T>G (p.Asn389Lys) c.1008T>G (p.Asn336Lys) | |
| 1 | g.173904060A>G | CA1251231 | SERPINC1 | c.1224T>C (p.Asn408=) c.609T>C (p.Asn203=) c.1080T>C (p.Asn360=) c.1347T>C (p.Asn449=) c.1305T>C (p.Asn435=) c.1203T>C (p.Asn401=) c.1167T>C (p.Asn389=) c.1008T>C (p.Asn336=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904060A>T | CA343772692 | SERPINC1 | c.1224T>A (p.Asn408Lys) c.609T>A (p.Asn203Lys) c.1080T>A (p.Asn360Lys) c.1347T>A (p.Asn449Lys) c.1305T>A (p.Asn435Lys) c.1203T>A (p.Asn401Lys) c.1167T>A (p.Asn389Lys) c.1008T>A (p.Asn336Lys) | |
| 1 | g.173904061T>A | CA343772693 | SERPINC1 | c.1223A>T (p.Asn408Ile) c.608A>T (p.Asn203Ile) c.1079A>T (p.Asn360Ile) c.1346A>T (p.Asn449Ile) c.1304A>T (p.Asn435Ile) c.1202A>T (p.Asn401Ile) c.1166A>T (p.Asn389Ile) c.1007A>T (p.Asn336Ile) | |
| 1 | g.173904061T>C | CA343772694 | SERPINC1 | c.1223A>G (p.Asn408Ser) c.608A>G (p.Asn203Ser) c.1079A>G (p.Asn360Ser) c.1346A>G (p.Asn449Ser) c.1304A>G (p.Asn435Ser) c.1202A>G (p.Asn401Ser) c.1166A>G (p.Asn389Ser) c.1007A>G (p.Asn336Ser) | |
| 1 | g.173904061T>G | CA343772695 | SERPINC1 | c.1223A>C (p.Asn408Thr) c.608A>C (p.Asn203Thr) c.1079A>C (p.Asn360Thr) c.1346A>C (p.Asn449Thr) c.1304A>C (p.Asn435Thr) c.1202A>C (p.Asn401Thr) c.1166A>C (p.Asn389Thr) c.1007A>C (p.Asn336Thr) | |
| 1 | g.173904062T>A | CA343772698 | SERPINC1 | c.1222A>T (p.Asn408Tyr) c.607A>T (p.Asn203Tyr) c.1078A>T (p.Asn360Tyr) c.1345A>T (p.Asn449Tyr) c.1303A>T (p.Asn435Tyr) c.1201A>T (p.Asn401Tyr) c.1165A>T (p.Asn389Tyr) c.1006A>T (p.Asn336Tyr) | |
| 1 | g.173904062T>C | CA343772697 | SERPINC1 | c.1222A>G (p.Asn408Asp) c.607A>G (p.Asn203Asp) c.1078A>G (p.Asn360Asp) c.1345A>G (p.Asn449Asp) c.1303A>G (p.Asn435Asp) c.1201A>G (p.Asn401Asp) c.1165A>G (p.Asn389Asp) c.1006A>G (p.Asn336Asp) | |
| 1 | g.173904062T>G | CA343772696 | SERPINC1 | c.1222A>C (p.Asn408His) c.607A>C (p.Asn203His) c.1078A>C (p.Asn360His) c.1345A>C (p.Asn449His) c.1303A>C (p.Asn435His) c.1201A>C (p.Asn401His) c.1165A>C (p.Asn389His) c.1006A>C (p.Asn336His) | |
| 1 | g.173904063T>A | CA1251232 | SERPINC1 | c.1221A>T (p.Val407=) c.606A>T (p.Val202=) c.1077A>T (p.Val359=) c.1344A>T (p.Val448=) c.1302A>T (p.Val434=) c.1200A>T (p.Val400=) c.1164A>T (p.Val388=) c.1005A>T (p.Val335=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173904063T>C | CA421821622 | SERPINC1 | c.1221A>G (p.Val407=) c.606A>G (p.Val202=) c.1077A>G (p.Val359=) c.1344A>G (p.Val448=) c.1302A>G (p.Val434=) c.1200A>G (p.Val400=) c.1164A>G (p.Val388=) c.1005A>G (p.Val335=) | |
| 1 | g.173904063T>G | CA421821623 | SERPINC1 | c.1221A>C (p.Val407=) c.606A>C (p.Val202=) c.1077A>C (p.Val359=) c.1344A>C (p.Val448=) c.1302A>C (p.Val434=) c.1200A>C (p.Val400=) c.1164A>C (p.Val388=) c.1005A>C (p.Val335=) | |
| 1 | g.173904063T= | CA1207934397 | SERPINC1 | c.1221A= (p.Val407=) c.606A= (p.Val202=) c.1077A= (p.Val359=) c.1344A= (p.Val448=) c.1302A= (p.Val434=) c.1200A= (p.Val400=) c.1164A= (p.Val388=) c.1005A= (p.Val335=) | |
| 1 | g.173904064A= | CA1207934398 | SERPINC1 | c.1220T= (p.Val407=) c.605T= (p.Val202=) c.1076T= (p.Val359=) c.1343T= (p.Val448=) c.1301T= (p.Val434=) c.1199T= (p.Val400=) c.1163T= (p.Val388=) c.1004T= (p.Val335=) | |
| 1 | g.173904064A>C | CA343772699 | SERPINC1 | c.1220T>G (p.Val407Gly) c.605T>G (p.Val202Gly) c.1076T>G (p.Val359Gly) c.1343T>G (p.Val448Gly) c.1301T>G (p.Val434Gly) c.1199T>G (p.Val400Gly) c.1163T>G (p.Val388Gly) c.1004T>G (p.Val335Gly) | dbSNP |
| 1 | g.173904064A>G | CA343772700 | SERPINC1 | c.1220T>C (p.Val407Ala) c.605T>C (p.Val202Ala) c.1076T>C (p.Val359Ala) c.1343T>C (p.Val448Ala) c.1301T>C (p.Val434Ala) c.1199T>C (p.Val400Ala) c.1163T>C (p.Val388Ala) c.1004T>C (p.Val335Ala) | |
| 1 | g.173904064A>T | CA343772701 | SERPINC1 | c.1220T>A (p.Val407Glu) c.605T>A (p.Val202Glu) c.1076T>A (p.Val359Glu) c.1343T>A (p.Val448Glu) c.1301T>A (p.Val434Glu) c.1199T>A (p.Val400Glu) c.1163T>A (p.Val388Glu) c.1004T>A (p.Val335Glu) | |
| 1 | g.173904065C>A | CA343772702 | SERPINC1 | c.1219G>T (p.Val407Leu) c.604G>T (p.Val202Leu) c.1075G>T (p.Val359Leu) c.1342G>T (p.Val448Leu) c.1300G>T (p.Val434Leu) c.1198G>T (p.Val400Leu) c.1162G>T (p.Val388Leu) c.1003G>T (p.Val335Leu) | |
| 1 | g.173904065C= | CA1207934399 | SERPINC1 | c.1219G= (p.Val407=) c.604G= (p.Val202=) c.1075G= (p.Val359=) c.1342G= (p.Val448=) c.1300G= (p.Val434=) c.1198G= (p.Val400=) c.1162G= (p.Val388=) c.1003G= (p.Val335=) | |
| 1 | g.173904065C>G | CA343772703 | SERPINC1 | c.1219G>C (p.Val407Leu) c.604G>C (p.Val202Leu) c.1075G>C (p.Val359Leu) c.1342G>C (p.Val448Leu) c.1300G>C (p.Val434Leu) c.1198G>C (p.Val400Leu) c.1162G>C (p.Val388Leu) c.1003G>C (p.Val335Leu) | |
| 1 | g.173904065C>T | CA343772704 | SERPINC1 | c.1219G>A (p.Val407Ile) c.604G>A (p.Val202Ile) c.1075G>A (p.Val359Ile) c.1342G>A (p.Val448Ile) c.1300G>A (p.Val434Ile) c.1198G>A (p.Val400Ile) c.1162G>A (p.Val388Ile) c.1003G>A (p.Val335Ile) | dbSNP gnomAD v4 |
| 1 | g.173904066C>A | CA343772705 | SERPINC1 | c.1219-1G>T (n.1219-1G>T) c.604-1G>T (n.604-1G>T) c.1075-1G>T (n.1075-1G>T) c.1342-1G>T (n.1342-1G>T) c.1300-1G>T (n.1300-1G>T) c.1198-1G>T (n.1198-1G>T) c.1162-1G>T (n.1162-1G>T) c.1003-1G>T (n.1003-1G>T) | |
| 1 | g.173904066C>G | CA343772706 | SERPINC1 | c.1219-1G>C (n.1219-1G>C) c.604-1G>C (n.604-1G>C) c.1075-1G>C (n.1075-1G>C) c.1342-1G>C (n.1342-1G>C) c.1300-1G>C (n.1300-1G>C) c.1198-1G>C (n.1198-1G>C) c.1162-1G>C (n.1162-1G>C) c.1003-1G>C (n.1003-1G>C) | |
| 1 | g.173904066C>T | CA343772707 | SERPINC1 | c.1219-1G>A (n.1219-1G>A) c.604-1G>A (n.604-1G>A) c.1075-1G>A (n.1075-1G>A) c.1342-1G>A (n.1342-1G>A) c.1300-1G>A (n.1300-1G>A) c.1198-1G>A (n.1198-1G>A) c.1162-1G>A (n.1162-1G>A) c.1003-1G>A (n.1003-1G>A) | ClinVar |
| 1 | g.173904067T>A | CA343772708 | SERPINC1 | c.1219-2A>T (n.1219-2A>T) c.604-2A>T (n.604-2A>T) c.1075-2A>T (n.1075-2A>T) c.1342-2A>T (n.1342-2A>T) c.1300-2A>T (n.1300-2A>T) c.1198-2A>T (n.1198-2A>T) c.1162-2A>T (n.1162-2A>T) c.1003-2A>T (n.1003-2A>T) | |
| 1 | g.173904067T>C | CA343772709 | SERPINC1 | c.1219-2A>G (n.1219-2A>G) c.604-2A>G (n.604-2A>G) c.1075-2A>G (n.1075-2A>G) c.1342-2A>G (n.1342-2A>G) c.1300-2A>G (n.1300-2A>G) c.1198-2A>G (n.1198-2A>G) c.1162-2A>G (n.1162-2A>G) c.1003-2A>G (n.1003-2A>G) | ClinVar dbSNP |
| 1 | g.173904067T>G | CA343772710 | SERPINC1 | c.1219-2A>C (n.1219-2A>C) c.604-2A>C (n.604-2A>C) c.1075-2A>C (n.1075-2A>C) c.1342-2A>C (n.1342-2A>C) c.1300-2A>C (n.1300-2A>C) c.1198-2A>C (n.1198-2A>C) c.1162-2A>C (n.1162-2A>C) c.1003-2A>C (n.1003-2A>C) | |
| 1 | g.173904068G>T | CA2579753999 | SERPINC1 | c.1219-3C>A (n.1219-3C>A) c.604-3C>A (n.604-3C>A) c.1075-3C>A (n.1075-3C>A) c.1342-3C>A (n.1342-3C>A) c.1300-3C>A (n.1300-3C>A) c.1198-3C>A (n.1198-3C>A) c.1162-3C>A (n.1162-3C>A) c.1003-3C>A (n.1003-3C>A) | |
| 1 | g.173904069C>A | CA1251233 | SERPINC1 | c.1219-4G>T (n.1219-4G>T) c.604-4G>T (n.604-4G>T) c.1075-4G>T (n.1075-4G>T) c.1342-4G>T (n.1342-4G>T) c.1300-4G>T (n.1300-4G>T) c.1198-4G>T (n.1198-4G>T) c.1162-4G>T (n.1162-4G>T) c.1003-4G>T (n.1003-4G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173904069C= | CA1148295413 | SERPINC1 | c.1219-4G= (n.1219-4G=) c.604-4G= (n.604-4G=) c.1075-4G= (n.1075-4G=) c.1342-4G= (n.1342-4G=) c.1300-4G= (n.1300-4G=) c.1198-4G= (n.1198-4G=) c.1162-4G= (n.1162-4G=) c.1003-4G= (n.1003-4G=) | |
| 1 | g.173904071G= | CA1207934400 | SERPINC1 | c.1219-6C= (n.1219-6C=) c.604-6C= (n.604-6C=) c.1075-6C= (n.1075-6C=) c.1342-6C= (n.1342-6C=) c.1300-6C= (n.1300-6C=) c.1198-6C= (n.1198-6C=) c.1162-6C= (n.1162-6C=) c.1003-6C= (n.1003-6C=) | |
| 1 | g.173904071G>T | CA1251234 | SERPINC1 | c.1219-6C>A (n.1219-6C>A) c.604-6C>A (n.604-6C>A) c.1075-6C>A (n.1075-6C>A) c.1342-6C>A (n.1342-6C>A) c.1300-6C>A (n.1300-6C>A) c.1198-6C>A (n.1198-6C>A) c.1162-6C>A (n.1162-6C>A) c.1003-6C>A (n.1003-6C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173904072G>A | CA891309790 | SERPINC1 | c.1219-7C>T (n.1219-7C>T) c.604-7C>T (n.604-7C>T) c.1075-7C>T (n.1075-7C>T) c.1342-7C>T (n.1342-7C>T) c.1300-7C>T (n.1300-7C>T) c.1198-7C>T (n.1198-7C>T) c.1162-7C>T (n.1162-7C>T) c.1003-7C>T (n.1003-7C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173904072G= | CA1207934401 | SERPINC1 | c.1219-7C= (n.1219-7C=) c.604-7C= (n.604-7C=) c.1075-7C= (n.1075-7C=) c.1342-7C= (n.1342-7C=) c.1300-7C= (n.1300-7C=) c.1198-7C= (n.1198-7C=) c.1162-7C= (n.1162-7C=) c.1003-7C= (n.1003-7C=) | |
| 1 | g.173904072G>T | CA2649174131 | SERPINC1 | c.1219-7C>A (n.1219-7C>A) c.604-7C>A (n.604-7C>A) c.1075-7C>A (n.1075-7C>A) c.1342-7C>A (n.1342-7C>A) c.1300-7C>A (n.1300-7C>A) c.1198-7C>A (n.1198-7C>A) c.1162-7C>A (n.1162-7C>A) c.1003-7C>A (n.1003-7C>A) | gnomAD v4 |
| 1 | g.173904073T>C | CA2580061384 | SERPINC1 | c.1219-8A>G (n.1219-8A>G) c.604-8A>G (n.604-8A>G) c.1075-8A>G (n.1075-8A>G) c.1342-8A>G (n.1342-8A>G) c.1300-8A>G (n.1300-8A>G) c.1198-8A>G (n.1198-8A>G) c.1162-8A>G (n.1162-8A>G) c.1003-8A>G (n.1003-8A>G) | ClinVar |
| 1 | g.173904074C>A | CA2649174132 | SERPINC1 | c.1219-9G>T (n.1219-9G>T) c.604-9G>T (n.604-9G>T) c.1075-9G>T (n.1075-9G>T) c.1342-9G>T (n.1342-9G>T) c.1300-9G>T (n.1300-9G>T) c.1198-9G>T (n.1198-9G>T) c.1162-9G>T (n.1162-9G>T) c.1003-9G>T (n.1003-9G>T) | gnomAD v4 |
| 1 | g.173904075A>T | CA2649174133 | SERPINC1 | c.1219-10T>A (n.1219-10T>A) c.604-10T>A (n.604-10T>A) c.1075-10T>A (n.1075-10T>A) c.1342-10T>A (n.1342-10T>A) c.1300-10T>A (n.1300-10T>A) c.1198-10T>A (n.1198-10T>A) c.1162-10T>A (n.1162-10T>A) c.1003-10T>A (n.1003-10T>A) | gnomAD v4 |
| 1 | g.173904077A= | CA1207934402 | SERPINC1 | c.1219-12T= (n.1219-12T=) c.604-12T= (n.604-12T=) c.1075-12T= (n.1075-12T=) c.1342-12T= (n.1342-12T=) c.1300-12T= (n.1300-12T=) c.1198-12T= (n.1198-12T=) c.1162-12T= (n.1162-12T=) c.1003-12T= (n.1003-12T=) | |
| 1 | g.173904077A>G | CA32777343 | SERPINC1 | c.1219-12T>C (n.1219-12T>C) c.604-12T>C (n.604-12T>C) c.1075-12T>C (n.1075-12T>C) c.1342-12T>C (n.1342-12T>C) c.1300-12T>C (n.1300-12T>C) c.1198-12T>C (n.1198-12T>C) c.1162-12T>C (n.1162-12T>C) c.1003-12T>C (n.1003-12T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904077A>T | CA2580060335 | SERPINC1 | c.1219-12T>A (n.1219-12T>A) c.604-12T>A (n.604-12T>A) c.1075-12T>A (n.1075-12T>A) c.1342-12T>A (n.1342-12T>A) c.1300-12T>A (n.1300-12T>A) c.1198-12T>A (n.1198-12T>A) c.1162-12T>A (n.1162-12T>A) c.1003-12T>A (n.1003-12T>A) | |
| 1 | g.173904078T>G | CA1207934404 | SERPINC1 | c.1219-13A>C (n.1219-13A>C) c.604-13A>C (n.604-13A>C) c.1075-13A>C (n.1075-13A>C) c.1342-13A>C (n.1342-13A>C) c.1300-13A>C (n.1300-13A>C) c.1198-13A>C (n.1198-13A>C) c.1162-13A>C (n.1162-13A>C) c.1003-13A>C (n.1003-13A>C) | dbSNP |
| 1 | g.173904078T= | CA1207934403 | SERPINC1 | c.1219-13A= (n.1219-13A=) c.604-13A= (n.604-13A=) c.1075-13A= (n.1075-13A=) c.1342-13A= (n.1342-13A=) c.1300-13A= (n.1300-13A=) c.1198-13A= (n.1198-13A=) c.1162-13A= (n.1162-13A=) c.1003-13A= (n.1003-13A=) | |
| 1 | g.173904080G>A | CA2573952074 | SERPINC1 | c.1219-15C>T (n.1219-15C>T) c.604-15C>T (n.604-15C>T) c.1075-15C>T (n.1075-15C>T) c.1342-15C>T (n.1342-15C>T) c.1300-15C>T (n.1300-15C>T) c.1198-15C>T (n.1198-15C>T) c.1162-15C>T (n.1162-15C>T) c.1003-15C>T (n.1003-15C>T) |