| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |