| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48234925_48234926delinsGC | CA2175405958 | SLC12A1 | c.1136_1137delinsGC (p.Gly379=) c.1274_1275delinsGC (p.Gly425=) n.5259_5260delinsGC c.163_164delinsGC c.575_576delinsGC (p.Gly192=) n.5275_5276delinsGC c.1232_1233delinsGC (p.Gly411=) n.1448_1449delinsGC | |
| 15 | g.48234926del | CA16609223 | SLC12A1 | c.1137del (p.Phe380SerfsTer?) c.1275del (p.Phe426SerfsTer?) c.1137del (p.Phe380SerfsTer28) n.5260del c.164del c.576del (p.Phe193SerfsTer?) n.5276del c.1233del (p.Phe412SerfsTer?) n.1449del | ClinVar dbSNP |
| 15 | g.48234926C>A | CA490017462 | SLC12A1 | c.1137C>A (p.Gly379=) c.1275C>A (p.Gly425=) n.5260C>A c.164C>A c.576C>A (p.Gly192=) n.5276C>A c.1233C>A (p.Gly411=) n.1449C>A | |
| 15 | g.48234926C>G | CA490017463 | SLC12A1 | c.1137C>G (p.Gly379=) c.1275C>G (p.Gly425=) n.5260C>G c.164C>G c.576C>G (p.Gly192=) n.5276C>G c.1233C>G (p.Gly411=) n.1449C>G | |
| 15 | g.48234926C>T | CA490017466 | SLC12A1 | c.1137C>T (p.Gly379=) c.1275C>T (p.Gly425=) n.5260C>T c.164C>T c.576C>T (p.Gly192=) n.5276C>T c.1233C>T (p.Gly411=) n.1449C>T | ClinVar |
| 15 | g.48234927T>A | CA392308565 | SLC12A1 | c.1138T>A (p.Phe380Ile) c.1276T>A (p.Phe426Ile) n.5261T>A c.165T>A c.577T>A (p.Phe193Ile) n.5277T>A c.1234T>A (p.Phe412Ile) n.1450T>A | |
| 15 | g.48234927T>C | CA392308566 | SLC12A1 | c.1138T>C (p.Phe380Leu) c.1276T>C (p.Phe426Leu) n.5261T>C c.165T>C c.577T>C (p.Phe193Leu) n.5277T>C c.1234T>C (p.Phe412Leu) n.1450T>C | dbSNP gnomAD v4 |
| 15 | g.48234927T>G | CA392308567 | SLC12A1 | c.1138T>G (p.Phe380Val) c.1276T>G (p.Phe426Val) n.5261T>G c.165T>G c.577T>G (p.Phe193Val) n.5277T>G c.1234T>G (p.Phe412Val) n.1450T>G | gnomAD v4 |
| 15 | g.48234927T= | CA2175405960 | SLC12A1 | c.1138T= (p.Phe380=) c.1276T= (p.Phe426=) n.5261T= c.165T= c.577T= (p.Phe193=) n.5277T= c.1234T= (p.Phe412=) n.1450T= | |
| 15 | g.48234928T>A | CA392308570 | SLC12A1 | c.1139T>A (p.Phe380Tyr) c.1277T>A (p.Phe426Tyr) n.5262T>A c.166T>A c.578T>A (p.Phe193Tyr) n.5278T>A c.1235T>A (p.Phe412Tyr) n.1451T>A | |
| 15 | g.48234928T>C | CA392308569 | SLC12A1 | c.1139T>C (p.Phe380Ser) c.1277T>C (p.Phe426Ser) n.5262T>C c.166T>C c.578T>C (p.Phe193Ser) n.5278T>C c.1235T>C (p.Phe412Ser) n.1451T>C | |
| 15 | g.48234928T>G | CA392308568 | SLC12A1 | c.1139T>G (p.Phe380Cys) c.1277T>G (p.Phe426Cys) n.5262T>G c.166T>G c.578T>G (p.Phe193Cys) n.5278T>G c.1235T>G (p.Phe412Cys) n.1451T>G | |
| 15 | g.48234929C>A | CA392308572 | SLC12A1 | c.1140C>A (p.Phe380Leu) c.1278C>A (p.Phe426Leu) n.5263C>A c.167C>A c.579C>A (p.Phe193Leu) n.5279C>A c.1236C>A (p.Phe412Leu) n.1452C>A | |
| 15 | g.48234929C= | CA2175405961 | SLC12A1 | c.1140C= (p.Phe380=) c.1278C= (p.Phe426=) n.5263C= c.167C= c.579C= (p.Phe193=) n.5279C= c.1236C= (p.Phe412=) n.1452C= | |
| 15 | g.48234929C>G | CA392308571 | SLC12A1 | c.1140C>G (p.Phe380Leu) c.1278C>G (p.Phe426Leu) n.5263C>G c.167C>G c.579C>G (p.Phe193Leu) n.5279C>G c.1236C>G (p.Phe412Leu) n.1452C>G | |
| 15 | g.48234929C>T | CA490017473 | SLC12A1 | c.1140C>T (p.Phe380=) c.1278C>T (p.Phe426=) n.5263C>T c.167C>T c.579C>T (p.Phe193=) n.5279C>T c.1236C>T (p.Phe412=) n.1452C>T | dbSNP |
| 15 | g.48234930T>A | CA392308574 | SLC12A1 | c.1141T>A (p.Phe381Ile) c.1279T>A (p.Phe427Ile) n.5264T>A c.168T>A c.580T>A (p.Phe194Ile) n.5280T>A c.1237T>A (p.Phe413Ile) n.1453T>A | |
| 15 | g.48234930T>C | CA392308577 | SLC12A1 | c.1141T>C (p.Phe381Leu) c.1279T>C (p.Phe427Leu) n.5264T>C c.168T>C c.580T>C (p.Phe194Leu) n.5280T>C c.1237T>C (p.Phe413Leu) n.1453T>C | |
| 15 | g.48234930T>G | CA392308578 | SLC12A1 | c.1141T>G (p.Phe381Val) c.1279T>G (p.Phe427Val) n.5264T>G c.168T>G c.580T>G (p.Phe194Val) n.5280T>G c.1237T>G (p.Phe413Val) n.1453T>G | |
| 15 | g.48234931T>A | CA392308580 | SLC12A1 | c.1142T>A (p.Phe381Tyr) c.1280T>A (p.Phe427Tyr) n.5265T>A c.169T>A c.581T>A (p.Phe194Tyr) n.5281T>A c.1238T>A (p.Phe413Tyr) n.1454T>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48234931T>C | CA392308582 | SLC12A1 | c.1142T>C (p.Phe381Ser) c.1280T>C (p.Phe427Ser) n.5265T>C c.169T>C c.581T>C (p.Phe194Ser) n.5281T>C c.1238T>C (p.Phe413Ser) n.1454T>C | ClinVar |
| 15 | g.48234931T>G | CA392308584 | SLC12A1 | c.1142T>G (p.Phe381Cys) c.1280T>G (p.Phe427Cys) n.5265T>G c.169T>G c.581T>G (p.Phe194Cys) n.5281T>G c.1238T>G (p.Phe413Cys) n.1454T>G | |
| 15 | g.48234931T= | CA2175405962 | SLC12A1 | c.1142T= (p.Phe381=) c.1280T= (p.Phe427=) n.5265T= c.169T= c.581T= (p.Phe194=) n.5281T= c.1238T= (p.Phe413=) n.1454T= | |
| 15 | g.48234932C>A | CA392308586 | SLC12A1 | c.1143C>A (p.Phe381Leu) c.1281C>A (p.Phe427Leu) n.5266C>A c.170C>A c.582C>A (p.Phe194Leu) n.5282C>A c.1239C>A (p.Phe413Leu) n.1455C>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48234932C= | CA2175405963 | SLC12A1 | c.1143C= (p.Phe381=) c.1281C= (p.Phe427=) n.5266C= c.170C= c.582C= (p.Phe194=) n.5282C= c.1239C= (p.Phe413=) n.1455C= | |
| 15 | g.48234932C>G | CA392308588 | SLC12A1 | c.1143C>G (p.Phe381Leu) c.1281C>G (p.Phe427Leu) n.5266C>G c.170C>G c.582C>G (p.Phe194Leu) n.5282C>G c.1239C>G (p.Phe413Leu) n.1455C>G | |
| 15 | g.48234932C>T | CA490017477 | SLC12A1 | c.1143C>T (p.Phe381=) c.1281C>T (p.Phe427=) n.5266C>T c.170C>T c.582C>T (p.Phe194=) n.5282C>T c.1239C>T (p.Phe413=) n.1455C>T | COSMIC COSMIC |
| 15 | g.48234933T>A | CA392308591 | SLC12A1 | c.1144T>A (p.Ser382Thr) c.1282T>A (p.Ser428Thr) n.5267T>A c.171T>A c.583T>A (p.Ser195Thr) n.5283T>A c.1240T>A (p.Ser414Thr) n.1456T>A | |
| 15 | g.48234933T>C | CA392308592 | SLC12A1 | c.1144T>C (p.Ser382Pro) c.1282T>C (p.Ser428Pro) n.5267T>C c.171T>C c.583T>C (p.Ser195Pro) n.5283T>C c.1240T>C (p.Ser414Pro) n.1456T>C | dbSNP |
| 15 | g.48234933T>G | CA392308594 | SLC12A1 | c.1144T>G (p.Ser382Ala) c.1282T>G (p.Ser428Ala) n.5267T>G c.171T>G c.583T>G (p.Ser195Ala) n.5283T>G c.1240T>G (p.Ser414Ala) n.1456T>G | |
| 15 | g.48234933T= | CA2175405964 | SLC12A1 | c.1144T= (p.Ser382=) c.1282T= (p.Ser428=) n.5267T= c.171T= c.583T= (p.Ser195=) n.5283T= c.1240T= (p.Ser414=) n.1456T= | |
| 15 | g.48234934C>A | CA392308595 | SLC12A1 | c.1145C>A (p.Ser382Tyr) c.1283C>A (p.Ser428Tyr) n.5268C>A c.172C>A c.584C>A (p.Ser195Tyr) n.5284C>A c.1241C>A (p.Ser414Tyr) n.1457C>A | |
| 15 | g.48234934C= | CA2175405965 | SLC12A1 | c.1145C= (p.Ser382=) c.1283C= (p.Ser428=) n.5268C= c.172C= c.584C= (p.Ser195=) n.5284C= c.1241C= (p.Ser414=) n.1457C= | |
| 15 | g.48234934C>G | CA392308597 | SLC12A1 | c.1145C>G (p.Ser382Cys) c.1283C>G (p.Ser428Cys) n.5268C>G c.172C>G c.584C>G (p.Ser195Cys) n.5284C>G c.1241C>G (p.Ser414Cys) n.1457C>G | |
| 15 | g.48234934C>T | CA7546980 | SLC12A1 | c.1145C>T (p.Ser382Phe) c.1283C>T (p.Ser428Phe) n.5268C>T c.172C>T c.584C>T (p.Ser195Phe) n.5284C>T c.1241C>T (p.Ser414Phe) n.1457C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.48234935T>A | CA490017482 | SLC12A1 | c.1146T>A (p.Ser382=) c.1284T>A (p.Ser428=) n.5269T>A c.173T>A c.585T>A (p.Ser195=) n.5285T>A c.1242T>A (p.Ser414=) n.1458T>A | |
| 15 | g.48234935T>C | CA490017486 | SLC12A1 | c.1146T>C (p.Ser382=) c.1284T>C (p.Ser428=) n.5269T>C c.173T>C c.585T>C (p.Ser195=) n.5285T>C c.1242T>C (p.Ser414=) n.1458T>C | |
| 15 | g.48234935T>G | CA490017489 | SLC12A1 | c.1146T>G (p.Ser382=) c.1284T>G (p.Ser428=) n.5269T>G c.173T>G c.585T>G (p.Ser195=) n.5285T>G c.1242T>G (p.Ser414=) n.1458T>G | |
| 15 | g.48234936G>A | CA392308599 | SLC12A1 | c.1147G>A (p.Val383Ile) c.1285G>A (p.Val429Ile) n.5270G>A c.174G>A c.586G>A (p.Val196Ile) n.5286G>A c.1243G>A (p.Val415Ile) n.1459G>A | gnomAD v4 |
| 15 | g.48234936G>C | CA392308600 | SLC12A1 | c.1147G>C (p.Val383Leu) c.1285G>C (p.Val429Leu) n.5270G>C c.174G>C c.586G>C (p.Val196Leu) n.5286G>C c.1243G>C (p.Val415Leu) n.1459G>C | |
| 15 | g.48234936G>T | CA392308602 | SLC12A1 | c.1147G>T (p.Val383Phe) c.1285G>T (p.Val429Phe) n.5270G>T c.174G>T c.586G>T (p.Val196Phe) n.5286G>T c.1243G>T (p.Val415Phe) n.1459G>T | dbSNP |
| 15 | g.48234937T>A | CA392308605 | SLC12A1 | c.1148T>A (p.Val383Asp) c.1286T>A (p.Val429Asp) n.5271T>A c.175T>A c.587T>A (p.Val196Asp) n.5287T>A c.1244T>A (p.Val415Asp) n.1460T>A | |
| 15 | g.48234937T>C | CA392308606 | SLC12A1 | c.1148T>C (p.Val383Ala) c.1286T>C (p.Val429Ala) n.5271T>C c.175T>C c.587T>C (p.Val196Ala) n.5287T>C c.1244T>C (p.Val415Ala) n.1460T>C | dbSNP |
| 15 | g.48234937T>G | CA392308608 | SLC12A1 | c.1148T>G (p.Val383Gly) c.1286T>G (p.Val429Gly) n.5271T>G c.175T>G c.587T>G (p.Val196Gly) n.5287T>G c.1244T>G (p.Val415Gly) n.1460T>G | |
| 15 | g.48234938C>A | CA490017497 | SLC12A1 | c.1149C>A (p.Val383=) c.1287C>A (p.Val429=) n.5272C>A c.176C>A c.588C>A (p.Val196=) n.5288C>A c.1245C>A (p.Val415=) n.1461C>A | |
| 15 | g.48234938C= | CA2175405966 | SLC12A1 | c.1149C= (p.Val383=) c.1287C= (p.Val429=) n.5272C= c.176C= c.588C= (p.Val196=) n.5288C= c.1245C= (p.Val415=) n.1461C= | |
| 15 | g.48234938C>G | CA7546981 | SLC12A1 | c.1149C>G (p.Val383=) c.1287C>G (p.Val429=) n.5272C>G c.176C>G c.588C>G (p.Val196=) n.5288C>G c.1245C>G (p.Val415=) n.1461C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48234938C>T | CA216070 | SLC12A1 | c.1149C>T (p.Val383=) c.1287C>T (p.Val429=) n.5272C>T c.176C>T c.588C>T (p.Val196=) n.5288C>T c.1245C>T (p.Val415=) n.1461C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48234939T>A | CA392308612 | SLC12A1 | c.1150T>A (p.Phe384Ile) c.1288T>A (p.Phe430Ile) n.5273T>A c.177T>A c.589T>A (p.Phe197Ile) n.5289T>A c.1246T>A (p.Phe416Ile) n.1462T>A | |
| 15 | g.48234939T>C | CA392308614 | SLC12A1 | c.1150T>C (p.Phe384Leu) c.1288T>C (p.Phe430Leu) n.5273T>C c.177T>C c.589T>C (p.Phe197Leu) n.5289T>C c.1246T>C (p.Phe416Leu) n.1462T>C |