| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18786053G>A | CA506117449 | COMP | c.1401C>T (p.Ala467=) c.1242C>T (p.Ala414=) c.1302C>T (p.Ala434=) | gnomAD v4 |
| 19 | g.18786053G>C | CA506117448 | COMP | c.1401C>G (p.Ala467=) c.1242C>G (p.Ala414=) c.1302C>G (p.Ala434=) | |
| 19 | g.18786053G>T | CA506117451 | COMP | c.1401C>A (p.Ala467=) c.1242C>A (p.Ala414=) c.1302C>A (p.Ala434=) | |
| 19 | g.18786054G>A | CA404884670 | COMP | c.1400C>T (p.Ala467Val) c.1241C>T (p.Ala414Val) c.1301C>T (p.Ala434Val) | |
| 19 | g.18786054G>C | CA404884666 | COMP | c.1400C>G (p.Ala467Gly) c.1241C>G (p.Ala414Gly) c.1301C>G (p.Ala434Gly) | |
| 19 | g.18786054G>T | CA404884665 | COMP | c.1400C>A (p.Ala467Asp) c.1241C>A (p.Ala414Asp) c.1301C>A (p.Ala434Asp) | |
| 19 | g.18786055C>A | CA9316428 | COMP | c.1399G>T (p.Ala467Ser) c.1240G>T (p.Ala414Ser) c.1300G>T (p.Ala434Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786055C= | CA2326525548 | COMP | c.1399G= (p.Ala467=) c.1240G= (p.Ala414=) c.1300G= (p.Ala434=) | |
| 19 | g.18786055C>G | CA404884681 | COMP | c.1399G>C (p.Ala467Pro) c.1240G>C (p.Ala414Pro) c.1300G>C (p.Ala434Pro) | |
| 19 | g.18786055C>T | CA404884685 | COMP | c.1399G>A (p.Ala467Thr) c.1240G>A (p.Ala414Thr) c.1300G>A (p.Ala434Thr) | |
| 19 | g.18786056A>C | CA404884689 | COMP | c.1398T>G (p.Asp466Glu) c.1239T>G (p.Asp413Glu) c.1299T>G (p.Asp433Glu) | |
| 19 | g.18786056A>G | CA506117454 | COMP | c.1398T>C (p.Asp466=) c.1239T>C (p.Asp413=) c.1299T>C (p.Asp433=) | gnomAD v4 |
| 19 | g.18786056A>T | CA404884690 | COMP | c.1398T>A (p.Asp466Glu) c.1239T>A (p.Asp413Glu) c.1299T>A (p.Asp433Glu) | |
| 19 | g.18786057del | CA2576725780 | COMP | c.1397del (p.Asp466ValfsTer?) c.1238del (p.Asp413ValfsTer?) c.1298del (p.Asp433ValfsTer?) | |
| 19 | g.18786057T>A | CA404884692 | COMP | c.1397A>T (p.Asp466Val) c.1238A>T (p.Asp413Val) c.1298A>T (p.Asp433Val) | |
| 19 | g.18786057T>C | CA404884694 | COMP | c.1397A>G (p.Asp466Gly) c.1238A>G (p.Asp413Gly) c.1298A>G (p.Asp433Gly) | |
| 19 | g.18786057T>G | CA404884695 | COMP | c.1397A>C (p.Asp466Ala) c.1238A>C (p.Asp413Ala) c.1298A>C (p.Asp433Ala) | |
| 19 | g.18786058C>A | CA404884702 | COMP | c.1396G>T (p.Asp466Tyr) c.1237G>T (p.Asp413Tyr) c.1297G>T (p.Asp433Tyr) | |
| 19 | g.18786058C>G | CA404884704 | COMP | c.1396G>C (p.Asp466His) c.1237G>C (p.Asp413His) c.1297G>C (p.Asp433His) | |
| 19 | g.18786058C>T | CA404884711 | COMP | c.1396G>A (p.Asp466Asn) c.1237G>A (p.Asp413Asn) c.1297G>A (p.Asp433Asn) | |
| 19 | g.18786059A>C | CA506117456 | COMP | c.1395T>G (p.Gly465=) c.1236T>G (p.Gly412=) c.1296T>G (p.Gly432=) | |
| 19 | g.18786059A>G | CA506117457 | COMP | c.1395T>C (p.Gly465=) c.1236T>C (p.Gly412=) c.1296T>C (p.Gly432=) | |
| 19 | g.18786059A>T | CA506117459 | COMP | c.1395T>A (p.Gly465=) c.1236T>A (p.Gly412=) c.1296T>A (p.Gly432=) | |
| 19 | g.18786060C>A | CA404884725 | COMP | c.1394G>T (p.Gly465Val) c.1235G>T (p.Gly412Val) c.1295G>T (p.Gly432Val) | ClinVar dbSNP |
| 19 | g.18786060C>G | CA404884718 | COMP | c.1394G>C (p.Gly465Ala) c.1235G>C (p.Gly412Ala) c.1295G>C (p.Gly432Ala) | |
| 19 | g.18786060C>T | CA404884715 | COMP | c.1394G>A (p.Gly465Asp) c.1235G>A (p.Gly412Asp) c.1295G>A (p.Gly432Asp) | |
| 19 | g.18786061C>A | CA404884728 | COMP | c.1393G>T (p.Gly465Cys) c.1234G>T (p.Gly412Cys) c.1294G>T (p.Gly432Cys) | |
| 19 | g.18786061C>G | CA404884729 | COMP | c.1393G>C (p.Gly465Arg) c.1234G>C (p.Gly412Arg) c.1294G>C (p.Gly432Arg) | |
| 19 | g.18786061C>T | CA404884730 | COMP | c.1393G>A (p.Gly465Ser) c.1234G>A (p.Gly412Ser) c.1294G>A (p.Gly432Ser) | ClinVar dbSNP |
| 19 | g.18786062C>A | CA404884731 | COMP | c.1392G>T (p.Gln464His) c.1233G>T (p.Gln411His) c.1293G>T (p.Gln431His) | |
| 19 | g.18786062C>G | CA404884733 | COMP | c.1392G>C (p.Gln464His) c.1233G>C (p.Gln411His) c.1293G>C (p.Gln431His) | gnomAD v4 |
| 19 | g.18786062C>T | CA506117460 | COMP | c.1392G>A (p.Gln464=) c.1233G>A (p.Gln411=) c.1293G>A (p.Gln431=) | gnomAD v4 |
| 19 | g.18786063T>A | CA404884737 | COMP | c.1391A>T (p.Gln464Leu) c.1232A>T (p.Gln411Leu) c.1292A>T (p.Gln431Leu) | |
| 19 | g.18786063T>C | CA404884736 | COMP | c.1391A>G (p.Gln464Arg) c.1232A>G (p.Gln411Arg) c.1292A>G (p.Gln431Arg) | |
| 19 | g.18786063T>G | CA404884735 | COMP | c.1391A>C (p.Gln464Pro) c.1232A>C (p.Gln411Pro) c.1292A>C (p.Gln431Pro) | |
| 19 | g.18786064G>A | CA404884739 | COMP | c.1390C>T (p.Gln464Ter) c.1231C>T (p.Gln411Ter) c.1291C>T (p.Gln431Ter) | |
| 19 | g.18786064G>C | CA404884744 | COMP | c.1390C>G (p.Gln464Glu) c.1231C>G (p.Gln411Glu) c.1291C>G (p.Gln431Glu) | |
| 19 | g.18786064G>T | CA404884748 | COMP | c.1390C>A (p.Gln464Lys) c.1231C>A (p.Gln411Lys) c.1291C>A (p.Gln431Lys) | |
| 19 | g.18786065G>A | CA506117462 | COMP | c.1389C>T (p.Gly463=) c.1230C>T (p.Gly410=) c.1290C>T (p.Gly430=) | |
| 19 | g.18786065G>C | CA506117463 | COMP | c.1389C>G (p.Gly463=) c.1230C>G (p.Gly410=) c.1290C>G (p.Gly430=) | |
| 19 | g.18786065G>T | CA506117464 | COMP | c.1389C>A (p.Gly463=) c.1230C>A (p.Gly410=) c.1290C>A (p.Gly430=) | |
| 19 | g.18786066C>A | CA306255348 | COMP | c.1388G>T (p.Gly463Val) c.1229G>T (p.Gly410Val) c.1289G>T (p.Gly430Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18786066C= | CA2326525549 | COMP | c.1388G= (p.Gly463=) c.1229G= (p.Gly410=) c.1289G= (p.Gly430=) | |
| 19 | g.18786066C>G | CA9316429 | COMP | c.1388G>C (p.Gly463Ala) c.1229G>C (p.Gly410Ala) c.1289G>C (p.Gly430Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786066C>T | CA404884761 | COMP | c.1388G>A (p.Gly463Asp) c.1229G>A (p.Gly410Asp) c.1289G>A (p.Gly430Asp) | |
| 19 | g.18786067C>A | CA404884763 | COMP | c.1387G>T (p.Gly463Cys) c.1228G>T (p.Gly410Cys) c.1288G>T (p.Gly430Cys) | |
| 19 | g.18786067C>G | CA404884767 | COMP | c.1387G>C (p.Gly463Arg) c.1228G>C (p.Gly410Arg) c.1288G>C (p.Gly430Arg) | |
| 19 | g.18786067C>T | CA404884765 | COMP | c.1387G>A (p.Gly463Ser) c.1228G>A (p.Gly410Ser) c.1288G>A (p.Gly430Ser) | |
| 19 | g.18786068A>C | CA404884769 | COMP | c.1386T>G (p.Asp462Glu) c.1227T>G (p.Asp409Glu) c.1287T>G (p.Asp429Glu) | |
| 19 | g.18786068A>G | CA506117466 | COMP | c.1386T>C (p.Asp462=) c.1227T>C (p.Asp409=) c.1287T>C (p.Asp429=) | |
| 19 | g.18786068A>T | CA404884770 | COMP | c.1386T>A (p.Asp462Glu) c.1227T>A (p.Asp409Glu) c.1287T>A (p.Asp429Glu) | gnomAD v4 |
| 19 | g.18786069T>A | CA404884777 | COMP | c.1385A>T (p.Asp462Val) c.1226A>T (p.Asp409Val) c.1286A>T (p.Asp429Val) | |
| 19 | g.18786069T>C | CA404884783 | COMP | c.1385A>G (p.Asp462Gly) c.1226A>G (p.Asp409Gly) c.1286A>G (p.Asp429Gly) | |
| 19 | g.18786069T>G | CA404884786 | COMP | c.1385A>C (p.Asp462Ala) c.1226A>C (p.Asp409Ala) c.1286A>C (p.Asp429Ala) | |
| 19 | g.18786070C>A | CA404884787 | COMP | c.1384G>T (p.Asp462Tyr) c.1225G>T (p.Asp409Tyr) c.1285G>T (p.Asp429Tyr) | ClinVar |
| 19 | g.18786070C= | CA2326525550 | COMP | c.1384G= (p.Asp462=) c.1225G= (p.Asp409=) c.1285G= (p.Asp429=) | |
| 19 | g.18786070C>G | CA404884788 | COMP | c.1384G>C (p.Asp462His) c.1225G>C (p.Asp409His) c.1285G>C (p.Asp429His) | gnomAD v4 |
| 19 | g.18786070C>T | CA306255349 | COMP | c.1384G>A (p.Asp462Asn) c.1225G>A (p.Asp409Asn) c.1285G>A (p.Asp429Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18786071G>A | CA506117468 | COMP | c.1383C>T (p.His461=) c.1224C>T (p.His408=) c.1284C>T (p.His428=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18786071G>C | CA404884799 | COMP | c.1383C>G (p.His461Gln) c.1224C>G (p.His408Gln) c.1284C>G (p.His428Gln) | |
| 19 | g.18786071G= | CA2326525551 | COMP | c.1383C= (p.His461=) c.1224C= (p.His408=) c.1284C= (p.His428=) | |
| 19 | g.18786071G>T | CA404884802 | COMP | c.1383C>A (p.His461Gln) c.1224C>A (p.His408Gln) c.1284C>A (p.His428Gln) | gnomAD v4 |
| 19 | g.18786072T>A | CA404884815 | COMP | c.1382A>T (p.His461Leu) c.1223A>T (p.His408Leu) c.1283A>T (p.His428Leu) | |
| 19 | g.18786072T>C | CA404884808 | COMP | c.1382A>G (p.His461Arg) c.1223A>G (p.His408Arg) c.1283A>G (p.His428Arg) | dbSNP gnomAD v2 |
| 19 | g.18786072T>G | CA404884806 | COMP | c.1382A>C (p.His461Pro) c.1223A>C (p.His408Pro) c.1283A>C (p.His428Pro) | ClinVar dbSNP |
| 19 | g.18786072T= | CA2326525552 | COMP | c.1382A= (p.His461=) c.1223A= (p.His408=) c.1283A= (p.His428=) | |
| 19 | g.18786073G>A | CA404884817 | COMP | c.1381C>T (p.His461Tyr) c.1222C>T (p.His408Tyr) c.1282C>T (p.His428Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18786073G>C | CA404884818 | COMP | c.1381C>G (p.His461Asp) c.1222C>G (p.His408Asp) c.1282C>G (p.His428Asp) | |
| 19 | g.18786073G= | CA2326525553 | COMP | c.1381C= (p.His461=) c.1222C= (p.His408=) c.1282C= (p.His428=) | |
| 19 | g.18786073G>T | CA404884820 | COMP | c.1381C>A (p.His461Asn) c.1222C>A (p.His408Asn) c.1282C>A (p.His428Asn) | gnomAD v4 |
| 19 | g.18786074G>A | CA506117473 | COMP | c.1380C>T (p.Asp460=) c.1221C>T (p.Asp407=) c.1281C>T (p.Asp427=) | |
| 19 | g.18786074G>C | CA404884822 | COMP | c.1380C>G (p.Asp460Glu) c.1221C>G (p.Asp407Glu) c.1281C>G (p.Asp427Glu) | |
| 19 | g.18786074G>T | CA404884825 | COMP | c.1380C>A (p.Asp460Glu) c.1221C>A (p.Asp407Glu) c.1281C>A (p.Asp427Glu) | |
| 19 | g.18786075T>A | CA404884828 | COMP | c.1379A>T (p.Asp460Val) c.1220A>T (p.Asp407Val) c.1280A>T (p.Asp427Val) | |
| 19 | g.18786075T>C | CA404884827 | COMP | c.1379A>G (p.Asp460Gly) c.1220A>G (p.Asp407Gly) c.1280A>G (p.Asp427Gly) | |
| 19 | g.18786075T>G | CA404884826 | COMP | c.1379A>C (p.Asp460Ala) c.1220A>C (p.Asp407Ala) c.1280A>C (p.Asp427Ala) | |
| 19 | g.18786076_18786077del | CA2583621973 | COMP | c.1378_1379del (p.Asp460ProfsTer6) c.1219_1220del (p.Asp407ProfsTer6) c.1279_1280del (p.Asp427ProfsTer6) | gnomAD v4 |
| 19 | g.18786076C>A | CA404884829 | COMP | c.1378G>T (p.Asp460Tyr) c.1219G>T (p.Asp407Tyr) c.1279G>T (p.Asp427Tyr) | |
| 19 | g.18786076C>G | CA404884830 | COMP | c.1378G>C (p.Asp460His) c.1219G>C (p.Asp407His) c.1279G>C (p.Asp427His) | |
| 19 | g.18786076C>T | CA404884831 | COMP | c.1378G>A (p.Asp460Asn) c.1219G>A (p.Asp407Asn) c.1279G>A (p.Asp427Asn) | |
| 19 | g.18786077T>A | CA506117478 | COMP | c.1377A>T (p.Ser459=) c.1218A>T (p.Ser406=) c.1278A>T (p.Ser426=) | |
| 19 | g.18786077T>C | CA506117477 | COMP | c.1377A>G (p.Ser459=) c.1218A>G (p.Ser406=) c.1278A>G (p.Ser426=) | |
| 19 | g.18786077T>G | CA506117476 | COMP | c.1377A>C (p.Ser459=) c.1218A>C (p.Ser406=) c.1278A>C (p.Ser426=) | |
| 19 | g.18786077_18786079del | CA2580096755 | COMP | c.1375_1377del (p.Ser459del) c.1216_1218del (p.Ser406del) c.1276_1278del (p.Ser426del) | ClinVar dbSNP |
| 19 | g.18786078G>A | CA9316430 | COMP | c.1376C>T (p.Ser459Leu) c.1217C>T (p.Ser406Leu) c.1277C>T (p.Ser426Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786078G>C | CA404884832 | COMP | c.1376C>G (p.Ser459Ter) c.1217C>G (p.Ser406Ter) c.1277C>G (p.Ser426Ter) | |
| 19 | g.18786078G= | CA2326525554 | COMP | c.1376C= (p.Ser459=) c.1217C= (p.Ser406=) c.1277C= (p.Ser426=) | |
| 19 | g.18786078G>T | CA404884833 | COMP | c.1376C>A (p.Ser459Ter) c.1217C>A (p.Ser406Ter) c.1277C>A (p.Ser426Ter) | |
| 19 | g.18786079A= | CA2326525555 | COMP | c.1375T= (p.Ser459=) c.1216T= (p.Ser406=) c.1276T= (p.Ser426=) | |
| 19 | g.18786079A>C | CA404884838 | COMP | c.1375T>G (p.Ser459Ala) c.1216T>G (p.Ser406Ala) c.1276T>G (p.Ser426Ala) | |
| 19 | g.18786079A>G | CA9316431 | COMP | c.1375T>C (p.Ser459Pro) c.1216T>C (p.Ser406Pro) c.1276T>C (p.Ser426Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18786079A>T | CA404884836 | COMP | c.1375T>A (p.Ser459Thr) c.1216T>A (p.Ser406Thr) c.1276T>A (p.Ser426Thr) | |
| 19 | g.18786080G>A | CA506117479 | COMP | c.1374C>T (p.Asp458=) c.1215C>T (p.Asp405=) c.1275C>T (p.Asp425=) | |
| 19 | g.18786080G>C | CA404884839 | COMP | c.1374C>G (p.Asp458Glu) c.1215C>G (p.Asp405Glu) c.1275C>G (p.Asp425Glu) | |
| 19 | g.18786080G>T | CA404884840 | COMP | c.1374C>A (p.Asp458Glu) c.1215C>A (p.Asp405Glu) c.1275C>A (p.Asp425Glu) | |
| 19 | g.18786080_18786083delinsGTCC | CA2326525556 | COMP | c.1371_1374delinsGGAC (p.Glu457=) c.1212_1215delinsGGAC (p.Glu404=) c.1272_1275delinsGGAC (p.Glu424=) | |
| 19 | g.18786080_18786081insCCA | CA2583621977 | COMP | c.1373_1374insTGG (p.Asp458_Ser459insGly) c.1214_1215insTGG (p.Asp405_Ser406insGly) c.1274_1275insTGG (p.Asp425_Ser426insGly) | gnomAD v4 |
| 19 | g.18786081T>A | CA404884843 | COMP | c.1373A>T (p.Asp458Val) c.1214A>T (p.Asp405Val) c.1274A>T (p.Asp425Val) | |
| 19 | g.18786081T>C | CA404884845 | COMP | c.1373A>G (p.Asp458Gly) c.1214A>G (p.Asp405Gly) c.1274A>G (p.Asp425Gly) | ClinVar |
| 19 | g.18786081T>G | CA404884847 | COMP | c.1373A>C (p.Asp458Ala) c.1214A>C (p.Asp405Ala) c.1274A>C (p.Asp425Ala) | |
| 19 | g.18786085_18786087del | CA915952950 | COMP | c.1371_1373del (p.Glu457del) c.1212_1214del (p.Glu404del) c.1272_1274del (p.Glu424del) | ClinVar dbSNP |
| 19 | g.18786082C>A | CA404884849 | COMP | c.1372G>T (p.Asp458Tyr) c.1213G>T (p.Asp405Tyr) c.1273G>T (p.Asp425Tyr) | ClinVar |
| 19 | g.18786082C>G | CA404884850 | COMP | c.1372G>C (p.Asp458His) c.1213G>C (p.Asp405His) c.1273G>C (p.Asp425His) | |
| 19 | g.18786082C>T | CA404884851 | COMP | c.1372G>A (p.Asp458Asn) c.1213G>A (p.Asp405Asn) c.1273G>A (p.Asp425Asn) | gnomAD v4 |
| 19 | g.18786083C>A | CA404884853 | COMP | c.1371G>T (p.Glu457Asp) c.1212G>T (p.Glu404Asp) c.1272G>T (p.Glu424Asp) | |
| 19 | g.18786083C>G | CA404884860 | COMP | c.1371G>C (p.Glu457Asp) c.1212G>C (p.Glu404Asp) c.1272G>C (p.Glu424Asp) | |
| 19 | g.18786083C>T | CA506117482 | COMP | c.1371G>A (p.Glu457=) c.1212G>A (p.Glu404=) c.1272G>A (p.Glu424=) | |
| 19 | g.18786084T>A | CA404884863 | COMP | c.1370A>T (p.Glu457Val) c.1211A>T (p.Glu404Val) c.1271A>T (p.Glu424Val) | |
| 19 | g.18786084T>C | CA404884867 | COMP | c.1370A>G (p.Glu457Gly) c.1211A>G (p.Glu404Gly) c.1271A>G (p.Glu424Gly) | gnomAD v4 |
| 19 | g.18786084T>G | CA404884868 | COMP | c.1370A>C (p.Glu457Ala) c.1211A>C (p.Glu404Ala) c.1271A>C (p.Glu424Ala) | |
| 19 | g.18786085C>A | CA404884869 | COMP | c.1369G>T (p.Glu457Ter) c.1210G>T (p.Glu404Ter) c.1270G>T (p.Glu424Ter) | |
| 19 | g.18786085C>G | CA404884871 | COMP | c.1369G>C (p.Glu457Gln) c.1210G>C (p.Glu404Gln) c.1270G>C (p.Glu424Gln) | |
| 19 | g.18786085C>T | CA404884870 | COMP | c.1369G>A (p.Glu457Lys) c.1210G>A (p.Glu404Lys) c.1270G>A (p.Glu424Lys) | gnomAD v4 COSMIC |
| 19 | g.18786086C>A | CA404884874 | COMP | c.1368G>T (p.Gln456His) c.1209G>T (p.Gln403His) c.1269G>T (p.Gln423His) | |
| 19 | g.18786086C>G | CA404884875 | COMP | c.1368G>C (p.Gln456His) c.1209G>C (p.Gln403His) c.1269G>C (p.Gln423His) | |
| 19 | g.18786086C>T | CA506117485 | COMP | c.1368G>A (p.Gln456=) c.1209G>A (p.Gln403=) c.1269G>A (p.Gln423=) | |
| 19 | g.18786086_18786088del | CA2695228431 | COMP | c.1366_1368del (p.Gln456del) c.1207_1209del (p.Gln403del) c.1267_1269del (p.Gln423del) | |
| 19 | g.18786087T>A | CA404884877 | COMP | c.1367A>T (p.Gln456Leu) c.1208A>T (p.Gln403Leu) c.1268A>T (p.Gln423Leu) | |
| 19 | g.18786087T>C | CA404884879 | COMP | c.1367A>G (p.Gln456Arg) c.1208A>G (p.Gln403Arg) c.1268A>G (p.Gln423Arg) | |
| 19 | g.18786087T>G | CA404884883 | COMP | c.1367A>C (p.Gln456Pro) c.1208A>C (p.Gln403Pro) c.1268A>C (p.Gln423Pro) | ClinVar dbSNP |
| 19 | g.18786088G>A | CA404884887 | COMP | c.1366C>T (p.Gln456Ter) c.1207C>T (p.Gln403Ter) c.1267C>T (p.Gln423Ter) | |
| 19 | g.18786088G>C | CA404884889 | COMP | c.1366C>G (p.Gln456Glu) c.1207C>G (p.Gln403Glu) c.1267C>G (p.Gln423Glu) | |
| 19 | g.18786088G= | CA2326525557 | COMP | c.1366C= (p.Gln456=) c.1207C= (p.Gln403=) c.1267C= (p.Gln423=) | |
| 19 | g.18786088G>T | CA404884894 | COMP | c.1366C>A (p.Gln456Lys) c.1207C>A (p.Gln403Lys) c.1267C>A (p.Gln423Lys) | dbSNP gnomAD v4 |
| 19 | g.18786089G>A | CA506117486 | COMP | c.1365C>T (p.Ala455=) c.1206C>T (p.Ala402=) c.1266C>T (p.Ala422=) | |
| 19 | g.18786089G>C | CA506117487 | COMP | c.1365C>G (p.Ala455=) c.1206C>G (p.Ala402=) c.1266C>G (p.Ala422=) | |
| 19 | g.18786089G>T | CA506117488 | COMP | c.1365C>A (p.Ala455=) c.1206C>A (p.Ala402=) c.1266C>A (p.Ala422=) | |
| 19 | g.18786090G>A | CA404884897 | COMP | c.1364C>T (p.Ala455Val) c.1205C>T (p.Ala402Val) c.1265C>T (p.Ala422Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18786090G>C | CA404884899 | COMP | c.1364C>G (p.Ala455Gly) c.1205C>G (p.Ala402Gly) c.1265C>G (p.Ala422Gly) | |
| 19 | g.18786090G= | CA2326525558 | COMP | c.1364C= (p.Ala455=) c.1205C= (p.Ala402=) c.1265C= (p.Ala422=) | |
| 19 | g.18786090G>T | CA404884901 | COMP | c.1364C>A (p.Ala455Asp) c.1205C>A (p.Ala402Asp) c.1265C>A (p.Ala422Asp) | gnomAD v4 |
| 19 | g.18786091C>A | CA404884913 | COMP | c.1363G>T (p.Ala455Ser) c.1204G>T (p.Ala402Ser) c.1264G>T (p.Ala422Ser) | |
| 19 | g.18786091C>G | CA404884907 | COMP | c.1363G>C (p.Ala455Pro) c.1204G>C (p.Ala402Pro) c.1264G>C (p.Ala422Pro) | |
| 19 | g.18786091C>T | CA404884904 | COMP | c.1363G>A (p.Ala455Thr) c.1204G>A (p.Ala402Thr) c.1264G>A (p.Ala422Thr) | ClinVar gnomAD v4 |
| 19 | g.18786092A>C | CA404884915 | COMP | c.1362T>G (p.Ser454Arg) c.1203T>G (p.Ser401Arg) c.1263T>G (p.Ser421Arg) | |
| 19 | g.18786092A>G | CA506117490 | COMP | c.1362T>C (p.Ser454=) c.1203T>C (p.Ser401=) c.1263T>C (p.Ser421=) | |
| 19 | g.18786092A>T | CA404884916 | COMP | c.1362T>A (p.Ser454Arg) c.1203T>A (p.Ser401Arg) c.1263T>A (p.Ser421Arg) | |
| 19 | g.18786093C>A | CA404884917 | COMP | c.1361G>T (p.Ser454Ile) c.1202G>T (p.Ser401Ile) c.1262G>T (p.Ser421Ile) | |
| 19 | g.18786093C= | CA2326525559 | COMP | c.1361G= (p.Ser454=) c.1202G= (p.Ser401=) c.1262G= (p.Ser421=) | |
| 19 | g.18786093C>G | CA404884918 | COMP | c.1361G>C (p.Ser454Thr) c.1202G>C (p.Ser401Thr) c.1262G>C (p.Ser421Thr) | gnomAD v4 |
| 19 | g.18786093C>T | CA404884919 | COMP | c.1361G>A (p.Ser454Asn) c.1202G>A (p.Ser401Asn) c.1262G>A (p.Ser421Asn) | dbSNP |
| 19 | g.18786093_18786094del | CA2695228432 | COMP | c.1360_1361del (p.Ser454CysfsTer12) c.1201_1202del (p.Ser401CysfsTer12) c.1261_1262del (p.Ser421CysfsTer12) | |
| 19 | g.18786094T>A | CA404884927 | COMP | c.1360A>T (p.Ser454Cys) c.1201A>T (p.Ser401Cys) c.1261A>T (p.Ser421Cys) | |
| 19 | g.18786094T>C | CA404884936 | COMP | c.1360A>G (p.Ser454Gly) c.1201A>G (p.Ser401Gly) c.1261A>G (p.Ser421Gly) | gnomAD v4 |
| 19 | g.18786094T>G | CA404884937 | COMP | c.1360A>C (p.Ser454Arg) c.1201A>C (p.Ser401Arg) c.1261A>C (p.Ser421Arg) | |
| 19 | g.18786095G>A | CA506117492 | COMP | c.1359C>T (p.Asn453=) c.1200C>T (p.Asn400=) c.1260C>T (p.Asn420=) | |
| 19 | g.18786095G>C | CA404884949 | COMP | c.1359C>G (p.Asn453Lys) c.1200C>G (p.Asn400Lys) c.1260C>G (p.Asn420Lys) | ClinVar dbSNP |
| 19 | g.18786095G>T | CA404884950 | COMP | c.1359C>A (p.Asn453Lys) c.1200C>A (p.Asn400Lys) c.1260C>A (p.Asn420Lys) | |
| 19 | g.18786096T>A | CA404884954 | COMP | c.1358A>T (p.Asn453Ile) c.1199A>T (p.Asn400Ile) c.1259A>T (p.Asn420Ile) | |
| 19 | g.18786096T>C | CA120168 | COMP | c.1358A>G (p.Asn453Ser) c.1199A>G (p.Asn400Ser) c.1259A>G (p.Asn420Ser) | ClinVar dbSNP |
| 19 | g.18786096T>G | CA404884957 | COMP | c.1358A>C (p.Asn453Thr) c.1199A>C (p.Asn400Thr) c.1259A>C (p.Asn420Thr) | ClinVar |
| 19 | g.18786096T= | CA2326525560 | COMP | c.1358A= (p.Asn453=) c.1199A= (p.Asn400=) c.1259A= (p.Asn420=) | |
| 19 | g.18786097T>A | CA404884979 | COMP | c.1357A>T (p.Asn453Tyr) c.1198A>T (p.Asn400Tyr) c.1258A>T (p.Asn420Tyr) | |
| 19 | g.18786097T>C | CA404884981 | COMP | c.1357A>G (p.Asn453Asp) c.1198A>G (p.Asn400Asp) c.1258A>G (p.Asn420Asp) | |
| 19 | g.18786097T>G | CA404884973 | COMP | c.1357A>C (p.Asn453His) c.1198A>C (p.Asn400His) c.1258A>C (p.Asn420His) | |
| 19 | g.18786098A>C | CA506052692 | COMP | c.1356T>G (p.Pro452=) c.1197T>G (p.Pro399=) c.1257T>G (p.Pro419=) | |
| 19 | g.18786098A>G | CA506052693 | COMP | c.1356T>C (p.Pro452=) c.1197T>C (p.Pro399=) c.1257T>C (p.Pro419=) | |
| 19 | g.18786098A>T | CA506052694 | COMP | c.1356T>A (p.Pro452=) c.1197T>A (p.Pro399=) c.1257T>A (p.Pro419=) | |
| 19 | g.18786099G>A | CA9316432 | COMP | c.1355C>T (p.Pro452Leu) c.1196C>T (p.Pro399Leu) c.1256C>T (p.Pro419Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786099G>C | CA404884986 | COMP | c.1355C>G (p.Pro452Arg) c.1196C>G (p.Pro399Arg) c.1256C>G (p.Pro419Arg) | |
| 19 | g.18786099G= | CA2326525561 | COMP | c.1355C= (p.Pro452=) c.1196C= (p.Pro399=) c.1256C= (p.Pro419=) | |
| 19 | g.18786099G>T | CA404884996 | COMP | c.1355C>A (p.Pro452His) c.1196C>A (p.Pro399His) c.1256C>A (p.Pro419His) | |
| 19 | g.18786100G>A | CA404885010 | COMP | c.1354C>T (p.Pro452Ser) c.1195C>T (p.Pro399Ser) c.1255C>T (p.Pro419Ser) | dbSNP gnomAD v4 |
| 19 | g.18786100G>C | CA404885015 | COMP | c.1354C>G (p.Pro452Ala) c.1195C>G (p.Pro399Ala) c.1255C>G (p.Pro419Ala) | |
| 19 | g.18786100G= | CA2326525562 | COMP | c.1354C= (p.Pro452=) c.1195C= (p.Pro399=) c.1255C= (p.Pro419=) | |
| 19 | g.18786100G>T | CA404885013 | COMP | c.1354C>A (p.Pro452Thr) c.1195C>A (p.Pro399Thr) c.1255C>A (p.Pro419Thr) | dbSNP |
| 19 | g.18786101C>A | CA506052699 | COMP | c.1353G>T (p.Val451=) c.1194G>T (p.Val398=) c.1254G>T (p.Val418=) | |
| 19 | g.18786101C= | CA2326525563 | COMP | c.1353G= (p.Val451=) c.1194G= (p.Val398=) c.1254G= (p.Val418=) | |
| 19 | g.18786101C>G | CA506052698 | COMP | c.1353G>C (p.Val451=) c.1194G>C (p.Val398=) c.1254G>C (p.Val418=) | |
| 19 | g.18786101C>T | CA306255357 | COMP | c.1353G>A (p.Val451=) c.1194G>A (p.Val398=) c.1254G>A (p.Val418=) | dbSNP gnomAD v4 |
| 19 | g.18786101_18786102insCCAGGGACA | CA2695228433 | COMP | c.1352_1353insTGTCCCTGG (p.Val451_Pro452insValProGly) c.1193_1194insTGTCCCTGG (p.Val398_Pro399insValProGly) c.1253_1254insTGTCCCTGG (p.Val418_Pro419insValProGly) | |
| 19 | g.18786102A= | CA2326525564 | COMP | c.1352T= (p.Val451=) c.1193T= (p.Val398=) c.1253T= (p.Val418=) | |
| 19 | g.18786102A>C | CA9316433 | COMP | c.1352T>G (p.Val451Gly) c.1193T>G (p.Val398Gly) c.1253T>G (p.Val418Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18786102A>G | CA404885023 | COMP | c.1352T>C (p.Val451Ala) c.1193T>C (p.Val398Ala) c.1253T>C (p.Val418Ala) | |
| 19 | g.18786102A>T | CA404885020 | COMP | c.1352T>A (p.Val451Glu) c.1193T>A (p.Val398Glu) c.1253T>A (p.Val418Glu) | |
| 19 | g.18786103C>A | CA404885029 | COMP | c.1351G>T (p.Val451Leu) c.1192G>T (p.Val398Leu) c.1252G>T (p.Val418Leu) | COSMIC |
| 19 | g.18786103C>G | CA404885032 | COMP | c.1351G>C (p.Val451Leu) c.1192G>C (p.Val398Leu) c.1252G>C (p.Val418Leu) | |
| 19 | g.18786103C>T | CA404885034 | COMP | c.1351G>A (p.Val451Met) c.1192G>A (p.Val398Met) c.1252G>A (p.Val418Met) | |
| 19 | g.18786104C>A | CA506052701 | COMP | c.1350G>T (p.Thr450=) c.1191G>T (p.Thr397=) c.1251G>T (p.Thr417=) | gnomAD v4 |
| 19 | g.18786104C= | CA2326525565 | COMP | c.1350G= (p.Thr450=) c.1191G= (p.Thr397=) c.1251G= (p.Thr417=) | |
| 19 | g.18786104C>G | CA506052702 | COMP | c.1350G>C (p.Thr450=) c.1191G>C (p.Thr397=) c.1251G>C (p.Thr417=) | dbSNP gnomAD v4 |
| 19 | g.18786104C>T | CA506052703 | COMP | c.1350G>A (p.Thr450=) c.1191G>A (p.Thr397=) c.1251G>A (p.Thr417=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18786105G>A | CA404885038 | COMP | c.1349C>T (p.Thr450Met) c.1190C>T (p.Thr397Met) c.1250C>T (p.Thr417Met) | dbSNP gnomAD v4 |
| 19 | g.18786105G>C | CA404885040 | COMP | c.1349C>G (p.Thr450Arg) c.1190C>G (p.Thr397Arg) c.1250C>G (p.Thr417Arg) | |
| 19 | g.18786105G= | CA2326525566 | COMP | c.1349C= (p.Thr450=) c.1190C= (p.Thr397=) c.1250C= (p.Thr417=) | |
| 19 | g.18786105G>T | CA404885043 | COMP | c.1349C>A (p.Thr450Lys) c.1190C>A (p.Thr397Lys) c.1250C>A (p.Thr417Lys) | |
| 19 | g.18786106T>A | CA404885045 | COMP | c.1348A>T (p.Thr450Ser) c.1189A>T (p.Thr397Ser) c.1249A>T (p.Thr417Ser) | |
| 19 | g.18786106T>C | CA404885046 | COMP | c.1348A>G (p.Thr450Ala) c.1189A>G (p.Thr397Ala) c.1249A>G (p.Thr417Ala) | |
| 19 | g.18786106T>G | CA404885047 | COMP | c.1348A>C (p.Thr450Pro) c.1189A>C (p.Thr397Pro) c.1249A>C (p.Thr417Pro) | |
| 19 | g.18786107G>A | CA9316434 | COMP | c.1347C>T (p.Pro449=) c.1188C>T (p.Pro396=) c.1248C>T (p.Pro416=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18786107G>C | CA506052706 | COMP | c.1347C>G (p.Pro449=) c.1188C>G (p.Pro396=) c.1248C>G (p.Pro416=) | |
| 19 | g.18786107G= | CA2326525567 | COMP | c.1347C= (p.Pro449=) c.1188C= (p.Pro396=) c.1248C= (p.Pro416=) | |
| 19 | g.18786107G>T | CA506052707 | COMP | c.1347C>A (p.Pro449=) c.1188C>A (p.Pro396=) c.1248C>A (p.Pro416=) | |
| 19 | g.18786107_18786109del | CA2695228434 | COMP | c.1345_1347del (p.Pro449del) c.1186_1188del (p.Pro396del) c.1246_1248del (p.Pro416del) | |
| 19 | g.18786108G>A | CA404885053 | COMP | c.1346C>T (p.Pro449Leu) c.1187C>T (p.Pro396Leu) c.1247C>T (p.Pro416Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18786108G>C | CA404885052 | COMP | c.1346C>G (p.Pro449Arg) c.1187C>G (p.Pro396Arg) c.1247C>G (p.Pro416Arg) | |
| 19 | g.18786108G= | CA2326525568 | COMP | c.1346C= (p.Pro449=) c.1187C= (p.Pro396=) c.1247C= (p.Pro416=) | |
| 19 | g.18786108G>T | CA404885051 | COMP | c.1346C>A (p.Pro449His) c.1187C>A (p.Pro396His) c.1247C>A (p.Pro416His) | |
| 19 | g.18786109G>A | CA404885056 | COMP | c.1345C>T (p.Pro449Ser) c.1186C>T (p.Pro396Ser) c.1246C>T (p.Pro416Ser) | |
| 19 | g.18786109G>C | CA404885058 | COMP | c.1345C>G (p.Pro449Ala) c.1186C>G (p.Pro396Ala) c.1246C>G (p.Pro416Ala) | gnomAD v4 |
| 19 | g.18786109G>T | CA404885059 | COMP | c.1345C>A (p.Pro449Thr) c.1186C>A (p.Pro396Thr) c.1246C>A (p.Pro416Thr) | |
| 19 | g.18786110A>C | CA404885063 | COMP | c.1344T>G (p.Cys448Trp) c.1185T>G (p.Cys395Trp) c.1245T>G (p.Cys415Trp) | |
| 19 | g.18786110A>G | CA506052709 | COMP | c.1344T>C (p.Cys448=) c.1185T>C (p.Cys395=) c.1245T>C (p.Cys415=) | |
| 19 | g.18786110A>T | CA404885064 | COMP | c.1344T>A (p.Cys448Ter) c.1185T>A (p.Cys395Ter) c.1245T>A (p.Cys415Ter) | |
| 19 | g.18786111C>A | CA404885065 | COMP | c.1343G>T (p.Cys448Phe) c.1184G>T (p.Cys395Phe) c.1244G>T (p.Cys415Phe) | |
| 19 | g.18786111C>G | CA404885066 | COMP | c.1343G>C (p.Cys448Ser) c.1184G>C (p.Cys395Ser) c.1244G>C (p.Cys415Ser) | |
| 19 | g.18786111C>T | CA404885069 | COMP | c.1343G>A (p.Cys448Tyr) c.1184G>A (p.Cys395Tyr) c.1244G>A (p.Cys415Tyr) | |
| 19 | g.18786112A>C | CA404885072 | COMP | c.1342T>G (p.Cys448Gly) c.1183T>G (p.Cys395Gly) c.1243T>G (p.Cys415Gly) | ClinVar |
| 19 | g.18786112A>G | CA404885074 | COMP | c.1342T>C (p.Cys448Arg) c.1183T>C (p.Cys395Arg) c.1243T>C (p.Cys415Arg) | |
| 19 | g.18786112A>T | CA404885076 | COMP | c.1342T>A (p.Cys448Ser) c.1183T>A (p.Cys395Ser) c.1243T>A (p.Cys415Ser) | |
| 19 | g.18786113G>A | CA506052711 | COMP | c.1341C>T (p.Asn447=) c.1182C>T (p.Asn394=) c.1242C>T (p.Asn414=) | gnomAD v4 COSMIC |
| 19 | g.18786113G>C | CA404885090 | COMP | c.1341C>G (p.Asn447Lys) c.1182C>G (p.Asn394Lys) c.1242C>G (p.Asn414Lys) | |
| 19 | g.18786113G>T | CA404885081 | COMP | c.1341C>A (p.Asn447Lys) c.1182C>A (p.Asn394Lys) c.1242C>A (p.Asn414Lys) | |
| 19 | g.18786114T>A | CA404885094 | COMP | c.1340A>T (p.Asn447Ile) c.1181A>T (p.Asn394Ile) c.1241A>T (p.Asn414Ile) | |
| 19 | g.18786114T>C | CA404885099 | COMP | c.1340A>G (p.Asn447Ser) c.1181A>G (p.Asn394Ser) c.1241A>G (p.Asn414Ser) | |
| 19 | g.18786114T>G | CA404885102 | COMP | c.1340A>C (p.Asn447Thr) c.1181A>C (p.Asn394Thr) c.1241A>C (p.Asn414Thr) | |
| 19 | g.18786115T>A | CA404885105 | COMP | c.1339A>T (p.Asn447Tyr) c.1180A>T (p.Asn394Tyr) c.1240A>T (p.Asn414Tyr) | |
| 19 | g.18786115T>C | CA404885106 | COMP | c.1339A>G (p.Asn447Asp) c.1180A>G (p.Asn394Asp) c.1240A>G (p.Asn414Asp) | |
| 19 | g.18786115T>G | CA404885107 | COMP | c.1339A>C (p.Asn447His) c.1180A>C (p.Asn394His) c.1240A>C (p.Asn414His) | |
| 19 | g.18786116G>A | CA506052714 | COMP | c.1338C>T (p.Asp446=) c.1179C>T (p.Asp393=) c.1239C>T (p.Asp413=) | |
| 19 | g.18786116G>C | CA404885108 | COMP | c.1338C>G (p.Asp446Glu) c.1179C>G (p.Asp393Glu) c.1239C>G (p.Asp413Glu) | |
| 19 | g.18786116G>T | CA404885110 | COMP | c.1338C>A (p.Asp446Glu) c.1179C>A (p.Asp393Glu) c.1239C>A (p.Asp413Glu) | |
| 19 | g.18786117T>A | CA404885125 | COMP | c.1337A>T (p.Asp446Val) c.1178A>T (p.Asp393Val) c.1238A>T (p.Asp413Val) | |
| 19 | g.18786117T>C | CA404885127 | COMP | c.1337A>G (p.Asp446Gly) c.1178A>G (p.Asp393Gly) c.1238A>G (p.Asp413Gly) | |
| 19 | g.18786117T>G | CA404885133 | COMP | c.1337A>C (p.Asp446Ala) c.1178A>C (p.Asp393Ala) c.1238A>C (p.Asp413Ala) | |
| 19 | g.18786117_18786118del | CA2576725781 | COMP | c.1336_1337del (p.Asp446GlnfsTer7) c.1177_1178del (p.Asp393GlnfsTer7) c.1237_1238del (p.Asp413GlnfsTer7) | |
| 19 | g.18786118C>A | CA404885142 | COMP | c.1336G>T (p.Asp446Tyr) c.1177G>T (p.Asp393Tyr) c.1237G>T (p.Asp413Tyr) n.586G>T | |
| 19 | g.18786118C>G | CA404885140 | COMP | c.1336G>C (p.Asp446His) c.1177G>C (p.Asp393His) c.1237G>C (p.Asp413His) n.586G>C | ClinVar dbSNP |
| 19 | g.18786118C>T | CA404885138 | COMP | c.1336G>A (p.Asp446Asn) c.1177G>A (p.Asp393Asn) c.1237G>A (p.Asp413Asn) n.586G>A | |
| 19 | g.18786119C>A | CA506052717 | COMP | c.1335G>T (p.Arg445=) c.1176G>T (p.Arg392=) c.1236G>T (p.Arg412=) n.585G>T | |
| 19 | g.18786119C>G | CA506052718 | COMP | c.1335G>C (p.Arg445=) c.1176G>C (p.Arg392=) c.1236G>C (p.Arg412=) n.585G>C | |
| 19 | g.18786119C>T | CA506052720 | COMP | c.1335G>A (p.Arg445=) c.1176G>A (p.Arg392=) c.1236G>A (p.Arg412=) n.585G>A | gnomAD v4 |
| 19 | g.18786120C>A | CA404885143 | COMP | c.1334G>T (p.Arg445Leu) c.1175G>T (p.Arg392Leu) c.1235G>T (p.Arg412Leu) n.584G>T | |
| 19 | g.18786120C= | CA2326525569 | COMP | c.1334G= (p.Arg445=) c.1175G= (p.Arg392=) c.1235G= (p.Arg412=) n.584G= | |
| 19 | g.18786120C>G | CA9316435 | COMP | c.1334G>C (p.Arg445Pro) c.1175G>C (p.Arg392Pro) c.1235G>C (p.Arg412Pro) n.584G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18786120C>T | CA404885149 | COMP | c.1334G>A (p.Arg445Gln) c.1175G>A (p.Arg392Gln) c.1235G>A (p.Arg412Gln) n.584G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18786121G>A | CA306255390 | COMP | c.1333C>T (p.Arg445Trp) c.1174C>T (p.Arg392Trp) c.1234C>T (p.Arg412Trp) n.583C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18786121G>C | CA404885152 | COMP | c.1333C>G (p.Arg445Gly) c.1174C>G (p.Arg392Gly) c.1234C>G (p.Arg412Gly) n.583C>G | gnomAD v4 |
| 19 | g.18786121G= | CA2326525570 | COMP | c.1333C= (p.Arg445=) c.1174C= (p.Arg392=) c.1234C= (p.Arg412=) n.583C= | |
| 19 | g.18786121G>T | CA506052722 | COMP | c.1333C>A (p.Arg445=) c.1174C>A (p.Arg392=) c.1234C>A (p.Arg412=) n.583C>A | |
| 19 | g.18786122A>C | CA506052723 | COMP | c.1332T>G (p.Ser444=) c.1173T>G (p.Ser391=) c.1233T>G (p.Ser411=) n.582T>G | |
| 19 | g.18786122A>G | CA506052725 | COMP | c.1332T>C (p.Ser444=) c.1173T>C (p.Ser391=) c.1233T>C (p.Ser411=) n.582T>C | |
| 19 | g.18786122A>T | CA506052726 | COMP | c.1332T>A (p.Ser444=) c.1173T>A (p.Ser391=) c.1233T>A (p.Ser411=) n.582T>A | |
| 19 | g.18786123G>A | CA9316437 | COMP | c.1331C>T (p.Ser444Phe) c.1172C>T (p.Ser391Phe) c.1232C>T (p.Ser411Phe) n.581C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786123G>C | CA9316436 | COMP | c.1331C>G (p.Ser444Cys) c.1172C>G (p.Ser391Cys) c.1232C>G (p.Ser411Cys) n.581C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18786123G= | CA2326525571 | COMP | c.1331C= (p.Ser444=) c.1172C= (p.Ser391=) c.1232C= (p.Ser411=) n.581C= | |
| 19 | g.18786123G>T | CA404885161 | COMP | c.1331C>A (p.Ser444Tyr) c.1172C>A (p.Ser391Tyr) c.1232C>A (p.Ser411Tyr) n.581C>A | |
| 19 | g.18786124A>C | CA404885164 | COMP | c.1330T>G (p.Ser444Ala) c.1171T>G (p.Ser391Ala) c.1231T>G (p.Ser411Ala) n.580T>G | |
| 19 | g.18786124A>G | CA404885167 | COMP | c.1330T>C (p.Ser444Pro) c.1171T>C (p.Ser391Pro) c.1231T>C (p.Ser411Pro) n.580T>C | gnomAD v4 |
| 19 | g.18786124A>T | CA404885168 | COMP | c.1330T>A (p.Ser444Thr) c.1171T>A (p.Ser391Thr) c.1231T>A (p.Ser411Thr) n.580T>A | |
| 19 | g.18786125G>A | CA506052728 | COMP | c.1329C>T (p.Asp443=) c.1170C>T (p.Asp390=) c.1230C>T (p.Asp410=) n.579C>T | gnomAD v4 |
| 19 | g.18786125G>C | CA404885169 | COMP | c.1329C>G (p.Asp443Glu) c.1170C>G (p.Asp390Glu) c.1230C>G (p.Asp410Glu) n.579C>G | |
| 19 | g.18786125G>T | CA404885171 | COMP | c.1329C>A (p.Asp443Glu) c.1170C>A (p.Asp390Glu) c.1230C>A (p.Asp410Glu) n.579C>A | |
| 19 | g.18786126T>A | CA404885179 | COMP | c.1328A>T (p.Asp443Val) c.1169A>T (p.Asp390Val) c.1229A>T (p.Asp410Val) n.578A>T | |
| 19 | g.18786126T>C | CA404885183 | COMP | c.1328A>G (p.Asp443Gly) c.1169A>G (p.Asp390Gly) c.1229A>G (p.Asp410Gly) n.578A>G | |
| 19 | g.18786126T>G | CA404885178 | COMP | c.1328A>C (p.Asp443Ala) c.1169A>C (p.Asp390Ala) c.1229A>C (p.Asp410Ala) n.578A>C | |
| 19 | g.18786127C>A | CA404885193 | COMP | c.1327G>T (p.Asp443Tyr) c.1168G>T (p.Asp390Tyr) c.1228G>T (p.Asp410Tyr) n.577G>T | |
| 19 | g.18786127C= | CA2326525572 | COMP | c.1327G= (p.Asp443=) c.1168G= (p.Asp390=) c.1228G= (p.Asp410=) n.577G= | |
| 19 | g.18786127C>G | CA404885184 | COMP | c.1327G>C (p.Asp443His) c.1168G>C (p.Asp390His) c.1228G>C (p.Asp410His) n.577G>C | |
| 19 | g.18786127C>T | CA404885188 | COMP | c.1327G>A (p.Asp443Asn) c.1168G>A (p.Asp390Asn) c.1228G>A (p.Asp410Asn) n.577G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18786128C>A | CA404885198 | COMP | c.1326G>T (p.Gln442His) c.1167G>T (p.Gln389His) c.1227G>T (p.Gln409His) n.576G>T | |
| 19 | g.18786128C>G | CA404885203 | COMP | c.1326G>C (p.Gln442His) c.1167G>C (p.Gln389His) c.1227G>C (p.Gln409His) n.576G>C | |
| 19 | g.18786128C>T | CA506052736 | COMP | c.1326G>A (p.Gln442=) c.1167G>A (p.Gln389=) c.1227G>A (p.Gln409=) n.576G>A | |
| 19 | g.18786129T>A | CA404885208 | COMP | c.1325A>T (p.Gln442Leu) c.1166A>T (p.Gln389Leu) c.1226A>T (p.Gln409Leu) n.575A>T | |
| 19 | g.18786129T>C | CA9316438 | COMP | c.1325A>G (p.Gln442Arg) c.1166A>G (p.Gln389Arg) c.1226A>G (p.Gln409Arg) n.575A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786129T>G | CA404885209 | COMP | c.1325A>C (p.Gln442Pro) c.1166A>C (p.Gln389Pro) c.1226A>C (p.Gln409Pro) n.575A>C | |
| 19 | g.18786129T= | CA2326525573 | COMP | c.1325A= (p.Gln442=) c.1166A= (p.Gln389=) c.1226A= (p.Gln409=) n.575A= | |
| 19 | g.18786130G>A | CA9316439 | COMP | c.1324C>T (p.Gln442Ter) c.1165C>T (p.Gln389Ter) c.1225C>T (p.Gln409Ter) n.574C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786130G>C | CA404885217 | COMP | c.1324C>G (p.Gln442Glu) c.1165C>G (p.Gln389Glu) c.1225C>G (p.Gln409Glu) n.574C>G | |
| 19 | g.18786130G= | CA2326525574 | COMP | c.1324C= (p.Gln442=) c.1165C= (p.Gln389=) c.1225C= (p.Gln409=) n.574C= | |
| 19 | g.18786130G>T | CA404885219 | COMP | c.1324C>A (p.Gln442Lys) c.1165C>A (p.Gln389Lys) c.1225C>A (p.Gln409Lys) n.574C>A | |
| 19 | g.18786131A>C | CA404885220 | COMP | c.1323T>G (p.His441Gln) c.1164T>G (p.His388Gln) c.1224T>G (p.His408Gln) n.573T>G | |
| 19 | g.18786131A>G | CA506052741 | COMP | c.1323T>C (p.His441=) c.1164T>C (p.His388=) c.1224T>C (p.His408=) n.573T>C | |
| 19 | g.18786131A>T | CA404885225 | COMP | c.1323T>A (p.His441Gln) c.1164T>A (p.His388Gln) c.1224T>A (p.His408Gln) n.573T>A | gnomAD v4 |
| 19 | g.18786132T>A | CA404885245 | COMP | c.1322A>T (p.His441Leu) c.1163A>T (p.His388Leu) c.1223A>T (p.His408Leu) n.572A>T | |
| 19 | g.18786132T>C | CA404885232 | COMP | c.1322A>G (p.His441Arg) c.1163A>G (p.His388Arg) c.1223A>G (p.His408Arg) n.572A>G | ClinVar dbSNP |
| 19 | g.18786132T>G | CA404885242 | COMP | c.1322A>C (p.His441Pro) c.1163A>C (p.His388Pro) c.1223A>C (p.His408Pro) n.572A>C | |
| 19 | g.18786132T= | CA2326525575 | COMP | c.1322A= (p.His441=) c.1163A= (p.His388=) c.1223A= (p.His408=) n.572A= | |
| 19 | g.18786133G>A | CA404885250 | COMP | c.1321C>T (p.His441Tyr) c.1162C>T (p.His388Tyr) c.1222C>T (p.His408Tyr) n.571C>T | dbSNP gnomAD v4 |
| 19 | g.18786133G>C | CA404885253 | COMP | c.1321C>G (p.His441Asp) c.1162C>G (p.His388Asp) c.1222C>G (p.His408Asp) n.571C>G | |
| 19 | g.18786133G= | CA2326525576 | COMP | c.1321C= (p.His441=) c.1162C= (p.His388=) c.1222C= (p.His408=) n.571C= | |
| 19 | g.18786133G>T | CA404885257 | COMP | c.1321C>A (p.His441Asn) c.1162C>A (p.His388Asn) c.1222C>A (p.His408Asn) n.571C>A | |
| 19 | g.18786134T>A | CA506052744 | COMP | c.1320A>T (p.Gly440=) c.1161A>T (p.Gly387=) c.1221A>T (p.Gly407=) n.570A>T | |
| 19 | g.18786134T>C | CA506052745 | COMP | c.1320A>G (p.Gly440=) c.1161A>G (p.Gly387=) c.1221A>G (p.Gly407=) n.570A>G | |
| 19 | g.18786134T>G | CA506052746 | COMP | c.1320A>C (p.Gly440=) c.1161A>C (p.Gly387=) c.1221A>C (p.Gly407=) n.570A>C | |
| 19 | g.18786135C>A | CA404885265 | COMP | c.1319G>T (p.Gly440Val) c.1160G>T (p.Gly387Val) c.1220G>T (p.Gly407Val) n.569G>T | |
| 19 | g.18786135C>G | CA404885269 | COMP | c.1319G>C (p.Gly440Ala) c.1160G>C (p.Gly387Ala) c.1220G>C (p.Gly407Ala) n.569G>C | |
| 19 | g.18786135C>T | CA404885271 | COMP | c.1319G>A (p.Gly440Glu) c.1160G>A (p.Gly387Glu) c.1220G>A (p.Gly407Glu) n.569G>A | ClinVar dbSNP |
| 19 | g.18786136C>A | CA404885275 | COMP | c.1318G>T (p.Gly440Ter) c.1159G>T (p.Gly387Ter) c.1219G>T (p.Gly407Ter) n.568G>T | |
| 19 | g.18786136C= | CA2326525577 | COMP | c.1318G= (p.Gly440=) c.1159G= (p.Gly387=) c.1219G= (p.Gly407=) n.568G= | |
| 19 | g.18786136C>G | CA404885276 | COMP | c.1318G>C (p.Gly440Arg) c.1159G>C (p.Gly387Arg) c.1219G>C (p.Gly407Arg) n.568G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.18786136C>T | CA404885277 | COMP | c.1318G>A (p.Gly440Arg) c.1159G>A (p.Gly387Arg) c.1219G>A (p.Gly407Arg) n.568G>A | ClinVar dbSNP |
| 19 | g.18786137G>A | CA9316440 | COMP | c.1317C>T (p.Asp439=) c.1158C>T (p.Asp386=) c.1218C>T (p.Asp406=) n.567C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786137G>C | CA404885281 | COMP | c.1317C>G (p.Asp439Glu) c.1158C>G (p.Asp386Glu) c.1218C>G (p.Asp406Glu) n.567C>G | ClinVar dbSNP |
| 19 | g.18786137G= | CA2326525578 | COMP | c.1317C= (p.Asp439=) c.1158C= (p.Asp386=) c.1218C= (p.Asp406=) n.567C= | |
| 19 | g.18786137G>T | CA404885283 | COMP | c.1317C>A (p.Asp439Glu) c.1158C>A (p.Asp386Glu) c.1218C>A (p.Asp406Glu) n.567C>A | ClinVar |
| 19 | g.18786138T>A | CA404885296 | COMP | c.1316A>T (p.Asp439Val) c.1157A>T (p.Asp386Val) c.1217A>T (p.Asp406Val) n.566A>T | |
| 19 | g.18786138T>C | CA404885300 | COMP | c.1316A>G (p.Asp439Gly) c.1157A>G (p.Asp386Gly) c.1217A>G (p.Asp406Gly) n.566A>G | ClinVar |
| 19 | g.18786138T>G | CA404885293 | COMP | c.1316A>C (p.Asp439Ala) c.1157A>C (p.Asp386Ala) c.1217A>C (p.Asp406Ala) n.566A>C | |
| 19 | g.18786140_18786145del | CA2573156200 | COMP | c.1311_1316del (p.Gly438_Asp439del) c.1152_1157del (p.Gly385_Asp386del) c.1212_1217del (p.Gly405_Asp406del) n.561_566del | ClinVar dbSNP |
| 19 | g.18786139C>A | CA404885304 | COMP | c.1315G>T (p.Asp439Tyr) c.1156G>T (p.Asp386Tyr) c.1216G>T (p.Asp406Tyr) n.565G>T | ClinVar dbSNP |
| 19 | g.18786139C= | CA2326525579 | COMP | c.1315G= (p.Asp439=) c.1156G= (p.Asp386=) c.1216G= (p.Asp406=) n.565G= | |
| 19 | g.18786139C>G | CA404885320 | COMP | c.1315G>C (p.Asp439His) c.1156G>C (p.Asp386His) c.1216G>C (p.Asp406His) n.565G>C | |
| 19 | g.18786139C>T | CA404885325 | COMP | c.1315G>A (p.Asp439Asn) c.1156G>A (p.Asp386Asn) c.1216G>A (p.Asp406Asn) n.565G>A | ClinVar dbSNP |
| 19 | g.18786140T>A | CA506052752 | COMP | c.1314A>T (p.Gly438=) c.1155A>T (p.Gly385=) c.1215A>T (p.Gly405=) n.564A>T | |
| 19 | g.18786140T>C | CA506052753 | COMP | c.1314A>G (p.Gly438=) c.1155A>G (p.Gly385=) c.1215A>G (p.Gly405=) n.564A>G | |
| 19 | g.18786140T>G | CA506052754 | COMP | c.1314A>C (p.Gly438=) c.1155A>C (p.Gly385=) c.1215A>C (p.Gly405=) n.564A>C | |
| 19 | g.18786141C>A | CA404885329 | COMP | c.1313G>T (p.Gly438Val) c.1154G>T (p.Gly385Val) c.1214G>T (p.Gly405Val) n.563G>T | |
| 19 | g.18786141C= | CA2326525580 | COMP | c.1313G= (p.Gly438=) c.1154G= (p.Gly385=) c.1214G= (p.Gly405=) n.563G= | |
| 19 | g.18786141C>G | CA9316441 | COMP | c.1313G>C (p.Gly438Ala) c.1154G>C (p.Gly385Ala) c.1214G>C (p.Gly405Ala) n.563G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786141C>T | CA404885330 | COMP | c.1313G>A (p.Gly438Glu) c.1154G>A (p.Gly385Glu) c.1214G>A (p.Gly405Glu) n.563G>A | |
| 19 | g.18786142C>A | CA404885341 | COMP | c.1312G>T (p.Gly438Ter) c.1153G>T (p.Gly385Ter) c.1213G>T (p.Gly405Ter) n.562G>T | |
| 19 | g.18786142C>G | CA404885331 | COMP | c.1312G>C (p.Gly438Arg) c.1153G>C (p.Gly385Arg) c.1213G>C (p.Gly405Arg) n.562G>C | |
| 19 | g.18786142C>T | CA404885335 | COMP | c.1312G>A (p.Gly438Arg) c.1153G>A (p.Gly385Arg) c.1213G>A (p.Gly405Arg) n.562G>A | |
| 19 | g.18786143A>C | CA404885346 | COMP | c.1311T>G (p.Asp437Glu) c.1152T>G (p.Asp384Glu) c.1212T>G (p.Asp404Glu) n.561T>G | |
| 19 | g.18786143A>G | CA506052758 | COMP | c.1311T>C (p.Asp437=) c.1152T>C (p.Asp384=) c.1212T>C (p.Asp404=) n.561T>C | |
| 19 | g.18786143A>T | CA404885350 | COMP | c.1311T>A (p.Asp437Glu) c.1152T>A (p.Asp384Glu) c.1212T>A (p.Asp404Glu) n.561T>A | |
| 19 | g.18786144T>A | CA404885355 | COMP | c.1310A>T (p.Asp437Val) c.1151A>T (p.Asp384Val) c.1211A>T (p.Asp404Val) n.560A>T | ClinVar |
| 19 | g.18786144T>C | CA404885359 | COMP | c.1310A>G (p.Asp437Gly) c.1151A>G (p.Asp384Gly) c.1211A>G (p.Asp404Gly) n.560A>G | |
| 19 | g.18786144T>G | CA404885366 | COMP | c.1310A>C (p.Asp437Ala) c.1151A>C (p.Asp384Ala) c.1211A>C (p.Asp404Ala) n.560A>C | |
| 19 | g.18786145C>A | CA404885371 | COMP | c.1309G>T (p.Asp437Tyr) c.1150G>T (p.Asp384Tyr) c.1210G>T (p.Asp404Tyr) n.559G>T | ClinVar dbSNP |
| 19 | g.18786145C= | CA2326525581 | COMP | c.1309G= (p.Asp437=) c.1150G= (p.Asp384=) c.1210G= (p.Asp404=) n.559G= | |
| 19 | g.18786145C>G | CA404885382 | COMP | c.1309G>C (p.Asp437His) c.1150G>C (p.Asp384His) c.1210G>C (p.Asp404His) n.559G>C | ClinVar dbSNP |
| 19 | g.18786145C>T | CA404885378 | COMP | c.1309G>A (p.Asp437Asn) c.1150G>A (p.Asp384Asn) c.1210G>A (p.Asp404Asn) n.559G>A | ClinVar dbSNP COSMIC |
| 19 | g.18786146C>A | CA404885386 | COMP | c.1308G>T (p.Gln436His) c.1149G>T (p.Gln383His) c.1209G>T (p.Gln403His) n.558G>T | |
| 19 | g.18786146C>G | CA404885387 | COMP | c.1308G>C (p.Gln436His) c.1149G>C (p.Gln383His) c.1209G>C (p.Gln403His) n.558G>C | |
| 19 | g.18786146C>T | CA506052762 | COMP | c.1308G>A (p.Gln436=) c.1149G>A (p.Gln383=) c.1209G>A (p.Gln403=) n.558G>A | |
| 19 | g.18786147C>A | CA404885392 | COMP | c.1308-1G>T (n.1308-1G>T) c.1149-1G>T (n.1149-1G>T) c.1209-1G>T (n.1209-1G>T) n.558-1G>T | |
| 19 | g.18786147C= | CA2326525582 | COMP | c.1308-1G= (n.1308-1G=) c.1149-1G= (n.1149-1G=) c.1209-1G= (n.1209-1G=) n.558-1G= | |
| 19 | g.18786147C>G | CA404885406 | COMP | c.1308-1G>C (n.1308-1G>C) c.1149-1G>C (n.1149-1G>C) c.1209-1G>C (n.1209-1G>C) n.558-1G>C | |
| 19 | g.18786147C>T | CA9316442 | COMP | c.1308-1G>A (n.1308-1G>A) c.1149-1G>A (n.1149-1G>A) c.1209-1G>A (n.1209-1G>A) n.558-1G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786148T>A | CA404885418 | COMP | c.1308-2A>T (n.1308-2A>T) c.1149-2A>T (n.1149-2A>T) c.1209-2A>T (n.1209-2A>T) n.558-2A>T | |
| 19 | g.18786148T>C | CA404885423 | COMP | c.1308-2A>G (n.1308-2A>G) c.1149-2A>G (n.1149-2A>G) c.1209-2A>G (n.1209-2A>G) n.558-2A>G | |
| 19 | g.18786148T>G | CA404885428 | COMP | c.1308-2A>C (n.1308-2A>C) c.1149-2A>C (n.1149-2A>C) c.1209-2A>C (n.1209-2A>C) n.558-2A>C | |
| 19 | g.18786150G>A | CA9316443 | COMP | c.1308-4C>T (n.1308-4C>T) c.1149-4C>T (n.1149-4C>T) c.1209-4C>T (n.1209-4C>T) n.558-4C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786150G= | CA2326525584 | COMP | c.1308-4C= (n.1308-4C=) c.1149-4C= (n.1149-4C=) c.1209-4C= (n.1209-4C=) n.558-4C= | |
| 19 | g.18786150_18786157delinsGAGTGGAT | CA2326525583 | COMP | c.1308-11_1308-4delinsATCCACTC (n.1308-11_1308-4delinsATCCACTC) c.1149-11_1149-4delinsATCCACTC (n.1149-11_1149-4delinsATCCACTC) c.1209-11_1209-4delinsATCCACTC (n.1209-11_1209-4delinsATCCACTC) n.558-11_558-4delinsATCCACTC | |
| 19 | g.18786151_18786154delinsAGTG | CA2326525586 | COMP | c.1308-8_1308-5delinsCACT (n.1308-8_1308-5delinsCACT) c.1149-8_1149-5delinsCACT (n.1149-8_1149-5delinsCACT) c.1209-8_1209-5delinsCACT (n.1209-8_1209-5delinsCACT) n.558-8_558-5delinsCACT | |
| 19 | g.18786153_18786159del | CA2326525585 | COMP | c.1308-11_1308-5del (n.1308-11_1308-5del) c.1149-11_1149-5del (n.1149-11_1149-5del) c.1209-11_1209-5del (n.1209-11_1209-5del) n.558-11_558-5del | dbSNP |
| 19 | g.18786152G>A | CA506052769 | COMP | c.1308-6C>T (n.1308-6C>T) c.1149-6C>T (n.1149-6C>T) c.1209-6C>T (n.1209-6C>T) n.558-6C>T | COSMIC |
| 19 | g.18786152G>C | CA2583622041 | COMP | c.1308-6C>G (n.1308-6C>G) c.1149-6C>G (n.1149-6C>G) c.1209-6C>G (n.1209-6C>G) n.558-6C>G | gnomAD v4 |
| 19 | g.18786153_18786155del | CA9316444 | COMP | c.1308-8_1308-6del (n.1308-8_1308-6del) c.1149-8_1149-6del (n.1149-8_1149-6del) c.1209-8_1209-6del (n.1209-8_1209-6del) n.558-8_558-6del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18786153T>C | CA2326525588 | COMP | c.1308-7A>G (n.1308-7A>G) c.1149-7A>G (n.1149-7A>G) c.1209-7A>G (n.1209-7A>G) n.558-7A>G | dbSNP |
| 19 | g.18786153T= | CA2326525587 | COMP | c.1308-7A= (n.1308-7A=) c.1149-7A= (n.1149-7A=) c.1209-7A= (n.1209-7A=) n.558-7A= |