Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149980854A>C | CA361707499 | SLC26A2 | c.1261A>C (p.Ile421Leu) c.372+2503A>C (n.372+2503A>C) | |
5 | g.149980854A>G | CA361707497 | SLC26A2 | c.1261A>G (p.Ile421Val) c.372+2503A>G (n.372+2503A>G) | |
5 | g.149980854A>T | CA361707498 | SLC26A2 | c.1261A>T (p.Ile421Phe) c.372+2503A>T (n.372+2503A>T) | |
5 | g.149980855T>A | CA361707500 | SLC26A2 | c.1262T>A (p.Ile421Asn) c.372+2504T>A (n.372+2504T>A) | |
5 | g.149980855T>C | CA3505412 | SLC26A2 | c.1262T>C (p.Ile421Thr) c.372+2504T>C (n.372+2504T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149980855T>G | CA361707501 | SLC26A2 | c.1262T>G (p.Ile421Ser) c.372+2504T>G (n.372+2504T>G) | |
5 | g.149980855T= | CA1590738546 | SLC26A2 | c.1262T= (p.Ile421=) c.372+2504T= (n.372+2504T=) | |
5 | g.149980856T>A | CA447402406 | SLC26A2 | c.1263T>A (p.Ile421=) c.372+2505T>A (n.372+2505T>A) | |
5 | g.149980856T>C | CA447402407 | SLC26A2 | c.1263T>C (p.Ile421=) c.372+2505T>C (n.372+2505T>C) | |
5 | g.149980856T>G | CA361707502 | SLC26A2 | c.1263T>G (p.Ile421Met) c.372+2505T>G (n.372+2505T>G) | |
5 | g.149980857G>A | CA3505413 | SLC26A2 | c.1264G>A (p.Gly422Ser) c.372+2506G>A (n.372+2506G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980857G>C | CA361707503 | SLC26A2 | c.1264G>C (p.Gly422Arg) c.372+2506G>C (n.372+2506G>C) | dbSNP |
5 | g.149980857G= | CA1590738547 | SLC26A2 | c.1264G= (p.Gly422=) c.372+2506G= (n.372+2506G=) | |
5 | g.149980857G>T | CA361707504 | SLC26A2 | c.1264G>T (p.Gly422Cys) c.372+2506G>T (n.372+2506G>T) | |
5 | g.149980858G>A | CA361707505 | SLC26A2 | c.1265G>A (p.Gly422Asp) c.372+2507G>A (n.372+2507G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149980858G>C | CA361707506 | SLC26A2 | c.1265G>C (p.Gly422Ala) c.372+2507G>C (n.372+2507G>C) | ClinVar dbSNP gnomAD v4 |
5 | g.149980858G= | CA1590738548 | SLC26A2 | c.1265G= (p.Gly422=) c.372+2507G= (n.372+2507G=) | |
5 | g.149980858G>T | CA361707507 | SLC26A2 | c.1265G>T (p.Gly422Val) c.372+2507G>T (n.372+2507G>T) | |
5 | g.149980859C>A | CA447402410 | SLC26A2 | c.1266C>A (p.Gly422=) c.372+2508C>A (n.372+2508C>A) | |
5 | g.149980859C>G | CA447402411 | SLC26A2 | c.1266C>G (p.Gly422=) c.372+2508C>G (n.372+2508C>G) | |
5 | g.149980859C>T | CA447402412 | SLC26A2 | c.1266C>T (p.Gly422=) c.372+2508C>T (n.372+2508C>T) | |
5 | g.149980860T>A | CA361707510 | SLC26A2 | c.1267T>A (p.Phe423Ile) c.372+2509T>A (n.372+2509T>A) | |
5 | g.149980860T>C | CA361707509 | SLC26A2 | c.1267T>C (p.Phe423Leu) c.372+2509T>C (n.372+2509T>C) | |
5 | g.149980860T>G | CA361707508 | SLC26A2 | c.1267T>G (p.Phe423Val) c.372+2509T>G (n.372+2509T>G) | |
5 | g.149980861T>A | CA361707511 | SLC26A2 | c.1268T>A (p.Phe423Tyr) c.372+2510T>A (n.372+2510T>A) | |
5 | g.149980861T>C | CA361707512 | SLC26A2 | c.1268T>C (p.Phe423Ser) c.372+2510T>C (n.372+2510T>C) | |
5 | g.149980861T>G | CA361707513 | SLC26A2 | c.1268T>G (p.Phe423Cys) c.372+2510T>G (n.372+2510T>G) | dbSNP |
5 | g.149980861T= | CA1590738549 | SLC26A2 | c.1268T= (p.Phe423=) c.372+2510T= (n.372+2510T=) | |
5 | g.149980862T>A | CA361707514 | SLC26A2 | c.1269T>A (p.Phe423Leu) c.372+2511T>A (n.372+2511T>A) | |
5 | g.149980862T>C | CA447402416 | SLC26A2 | c.1269T>C (p.Phe423=) c.372+2511T>C (n.372+2511T>C) | ClinVar gnomAD v4 |
5 | g.149980862T>G | CA361707515 | SLC26A2 | c.1269T>G (p.Phe423Leu) c.372+2511T>G (n.372+2511T>G) | |
5 | g.149980863T>A | CA361707516 | SLC26A2 | c.1270T>A (p.Cys424Ser) c.372+2512T>A (n.372+2512T>A) | |
5 | g.149980863T>C | CA361707517 | SLC26A2 | c.1270T>C (p.Cys424Arg) c.372+2512T>C (n.372+2512T>C) | dbSNP |
5 | g.149980863T>G | CA361707518 | SLC26A2 | c.1270T>G (p.Cys424Gly) c.372+2512T>G (n.372+2512T>G) | |
5 | g.149980863T= | CA1590738550 | SLC26A2 | c.1270T= (p.Cys424=) c.372+2512T= (n.372+2512T=) | |
5 | g.149980864G>A | CA361707519 | SLC26A2 | c.1271G>A (p.Cys424Tyr) c.372+2513G>A (n.372+2513G>A) | |
5 | g.149980864G>C | CA361707520 | SLC26A2 | c.1271G>C (p.Cys424Ser) c.372+2513G>C (n.372+2513G>C) | |
5 | g.149980864G>T | CA361707521 | SLC26A2 | c.1271G>T (p.Cys424Phe) c.372+2513G>T (n.372+2513G>T) | |
5 | g.149980865T>A | CA361707522 | SLC26A2 | c.1272T>A (p.Cys424Ter) c.372+2514T>A (n.372+2514T>A) | |
5 | g.149980865T>C | CA447402419 | SLC26A2 | c.1272T>C (p.Cys424=) c.372+2514T>C (n.372+2514T>C) | |
5 | g.149980865T>G | CA361707523 | SLC26A2 | c.1272T>G (p.Cys424Trp) c.372+2514T>G (n.372+2514T>G) | |
5 | g.149980865dup | CA2573139277 | SLC26A2 | c.1272dup (p.Asn425Ter) c.372+2514dup (n.372+2514dup) | ClinVar dbSNP |
5 | g.149980866A= | CA1590738551 | SLC26A2 | c.1273A= (p.Asn425=) c.372+2515A= (n.372+2515A=) | |
5 | g.149980866A>C | CA361707524 | SLC26A2 | c.1273A>C (p.Asn425His) c.372+2515A>C (n.372+2515A>C) | |
5 | g.149980866A>G | CA259842 | SLC26A2 | c.1273A>G (p.Asn425Asp) c.372+2515A>G (n.372+2515A>G) | ClinVar dbSNP gnomAD v4 |
5 | g.149980866A>T | CA361707525 | SLC26A2 | c.1273A>T (p.Asn425Tyr) c.372+2515A>T (n.372+2515A>T) | |
5 | g.149980867A>C | CA361707526 | SLC26A2 | c.1274A>C (p.Asn425Thr) c.372+2516A>C (n.372+2516A>C) | |
5 | g.149980867A>G | CA361707527 | SLC26A2 | c.1274A>G (p.Asn425Ser) c.372+2516A>G (n.372+2516A>G) | |
5 | g.149980867A>T | CA361707528 | SLC26A2 | c.1274A>T (p.Asn425Ile) c.372+2516A>T (n.372+2516A>T) | |
5 | g.149980867_149980868insAACAGTGGAAGAAGGAAGGGATGA | CA1590738552 | SLC26A2 | c.1274_1275insAACAGTGGAAGAAGGAAGGGATGA (p.Asn425delinsLysThrValGluGluGlyArgAspAsp) c.372+2516_372+2517insAACAGTGGAAGAAGGAAGGGATGA (n.372+2516_372+2517insAACAGTGGAAGAAGGAAGGGATGA) | dbSNP |