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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980845del | CA2768879503 | SLC26A2 | c.1252del (p.Met418CysfsTer?) c.372+2494del (n.372+2494del) | |
| 5 | g.149980845A= | CA1590738543 | SLC26A2 | c.1252A= (p.Met418=) c.372+2494A= (n.372+2494A=) | |
| 5 | g.149980845A>C | CA361707477 | SLC26A2 | c.1252A>C (p.Met418Leu) c.372+2494A>C (n.372+2494A>C) | |
| 5 | g.149980845A>G | CA3505410 | SLC26A2 | c.1252A>G (p.Met418Val) c.372+2494A>G (n.372+2494A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980845A>T | CA361707476 | SLC26A2 | c.1252A>T (p.Met418Leu) c.372+2494A>T (n.372+2494A>T) | |
| 5 | g.149980846T>A | CA361707478 | SLC26A2 | c.1253T>A (p.Met418Lys) c.372+2495T>A (n.372+2495T>A) | |
| 5 | g.149980846T>C | CA361707480 | SLC26A2 | c.1253T>C (p.Met418Thr) c.372+2495T>C (n.372+2495T>C) | |
| 5 | g.149980846T>G | CA361707479 | SLC26A2 | c.1253T>G (p.Met418Arg) c.372+2495T>G (n.372+2495T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980846T= | CA1590738544 | SLC26A2 | c.1253T= (p.Met418=) c.372+2495T= (n.372+2495T=) | |
| 5 | g.149980847G>A | CA3505411 | SLC26A2 | c.1254G>A (p.Met418Ile) c.372+2496G>A (n.372+2496G>A) | dbSNP ExAC gnomAD v2 |
| 5 | g.149980847G>C | CA361707482 | SLC26A2 | c.1254G>C (p.Met418Ile) c.372+2496G>C (n.372+2496G>C) | |
| 5 | g.149980847G= | CA1590738545 | SLC26A2 | c.1254G= (p.Met418=) c.372+2496G= (n.372+2496G=) | |
| 5 | g.149980847G>T | CA361707481 | SLC26A2 | c.1254G>T (p.Met418Ile) c.372+2496G>T (n.372+2496G>T) | |
| 5 | g.149980848T>A | CA361707483 | SLC26A2 | c.1255T>A (p.Tyr419Asn) c.372+2497T>A (n.372+2497T>A) | |
| 5 | g.149980848T>C | CA361707485 | SLC26A2 | c.1255T>C (p.Tyr419His) c.372+2497T>C (n.372+2497T>C) | |
| 5 | g.149980848T>G | CA361707484 | SLC26A2 | c.1255T>G (p.Tyr419Asp) c.372+2497T>G (n.372+2497T>G) | |
| 5 | g.149980849A>C | CA361707486 | SLC26A2 | c.1256A>C (p.Tyr419Ser) c.372+2498A>C (n.372+2498A>C) | |
| 5 | g.149980849A>G | CA361707487 | SLC26A2 | c.1256A>G (p.Tyr419Cys) c.372+2498A>G (n.372+2498A>G) | |
| 5 | g.149980849A>T | CA361707488 | SLC26A2 | c.1256A>T (p.Tyr419Phe) c.372+2498A>T (n.372+2498A>T) | |
| 5 | g.149980850T>A | CA361707489 | SLC26A2 | c.1257T>A (p.Tyr419Ter) c.372+2499T>A (n.372+2499T>A) | |
| 5 | g.149980850T>C | CA447402399 | SLC26A2 | c.1257T>C (p.Tyr419=) c.372+2499T>C (n.372+2499T>C) | ClinVar |
| 5 | g.149980850T>G | CA361707490 | SLC26A2 | c.1257T>G (p.Tyr419Ter) c.372+2499T>G (n.372+2499T>G) | |
| 5 | g.149980851G>A | CA361707491 | SLC26A2 | c.1258G>A (p.Ala420Thr) c.372+2500G>A (n.372+2500G>A) | |
| 5 | g.149980851G>C | CA361707492 | SLC26A2 | c.1258G>C (p.Ala420Pro) c.372+2500G>C (n.372+2500G>C) | |
| 5 | g.149980851G>T | CA361707493 | SLC26A2 | c.1258G>T (p.Ala420Ser) c.372+2500G>T (n.372+2500G>T) | |
| 5 | g.149980852C>A | CA361707494 | SLC26A2 | c.1259C>A (p.Ala420Asp) c.372+2501C>A (n.372+2501C>A) | |
| 5 | g.149980852C>G | CA361707495 | SLC26A2 | c.1259C>G (p.Ala420Gly) c.372+2501C>G (n.372+2501C>G) | |
| 5 | g.149980852C>T | CA361707496 | SLC26A2 | c.1259C>T (p.Ala420Val) c.372+2501C>T (n.372+2501C>T) | |
| 5 | g.149980853C>A | CA447402400 | SLC26A2 | c.1260C>A (p.Ala420=) c.372+2502C>A (n.372+2502C>A) | |
| 5 | g.149980853C>G | CA447402401 | SLC26A2 | c.1260C>G (p.Ala420=) c.372+2502C>G (n.372+2502C>G) | |
| 5 | g.149980853C>T | CA447402402 | SLC26A2 | c.1260C>T (p.Ala420=) c.372+2502C>T (n.372+2502C>T) | |
| 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 |
| 5 | g.149980868T>A | CA361707529 | SLC26A2 | c.1275T>A (p.Asn425Lys) c.372+2517T>A (n.372+2517T>A) | |
| 5 | g.149980868T>C | CA447402422 | SLC26A2 | c.1275T>C (p.Asn425=) c.372+2517T>C (n.372+2517T>C) | |
| 5 | g.149980868T>G | CA361707530 | SLC26A2 | c.1275T>G (p.Asn425Lys) c.372+2517T>G (n.372+2517T>G) | |
| 5 | g.149980868_149980871delinsTATC | CA1590738553 | SLC26A2 | c.1275_1278delinsTATC (p.Asn425=) c.372+2517_372+2520delinsTATC (n.372+2517_372+2520delinsTATC) | |
| 5 | g.149980869A= | CA1590738554 | SLC26A2 | c.1276A= (p.Ile426=) c.372+2518A= (n.372+2518A=) | |
| 5 | g.149980869A>C | CA361707531 | SLC26A2 | c.1276A>C (p.Ile426Leu) c.372+2518A>C (n.372+2518A>C) | |
| 5 | g.149980869A>G | CA361707532 | SLC26A2 | c.1276A>G (p.Ile426Val) c.372+2518A>G (n.372+2518A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980869A>T | CA361707533 | SLC26A2 | c.1276A>T (p.Ile426Phe) c.372+2518A>T (n.372+2518A>T) | |
| 5 | g.149980872_149980874del | CA563955689 | SLC26A2 | c.1279_1281del (p.Ile427del) c.372+2521_372+2523del (n.372+2521_372+2523del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980870T>A | CA361707534 | SLC26A2 | c.1277T>A (p.Ile426Asn) c.372+2519T>A (n.372+2519T>A) | ClinVar dbSNP |
| 5 | g.149980870T>C | CA361707535 | SLC26A2 | c.1277T>C (p.Ile426Thr) c.372+2519T>C (n.372+2519T>C) | ClinVar dbSNP |
| 5 | g.149980870T>G | CA361707536 | SLC26A2 | c.1277T>G (p.Ile426Ser) c.372+2519T>G (n.372+2519T>G) | |
| 5 | g.149980871C>A | CA447402425 | SLC26A2 | c.1278C>A (p.Ile426=) c.372+2520C>A (n.372+2520C>A) | |
| 5 | g.149980871C>G | CA361707537 | SLC26A2 | c.1278C>G (p.Ile426Met) c.372+2520C>G (n.372+2520C>G) | |
| 5 | g.149980871C>T | CA447402426 | SLC26A2 | c.1278C>T (p.Ile426=) c.372+2520C>T (n.372+2520C>T) | |
| 5 | g.149980872A>C | CA361707539 | SLC26A2 | c.1279A>C (p.Ile427Leu) c.372+2521A>C (n.372+2521A>C) | |
| 5 | g.149980872A>G | CA361707538 | SLC26A2 | c.1279A>G (p.Ile427Val) c.372+2521A>G (n.372+2521A>G) | |
| 5 | g.149980872A>T | CA361707540 | SLC26A2 | c.1279A>T (p.Ile427Phe) c.372+2521A>T (n.372+2521A>T) | |
| 5 | g.149980873T>A | CA3505414 | SLC26A2 | c.1280T>A (p.Ile427Asn) c.372+2522T>A (n.372+2522T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980873T>C | CA361707541 | SLC26A2 | c.1280T>C (p.Ile427Thr) c.372+2522T>C (n.372+2522T>C) | dbSNP |
| 5 | g.149980873T>G | CA361707542 | SLC26A2 | c.1280T>G (p.Ile427Ser) c.372+2522T>G (n.372+2522T>G) | |
| 5 | g.149980873T= | CA1590738555 | SLC26A2 | c.1280T= (p.Ile427=) c.372+2522T= (n.372+2522T=) | |
| 5 | g.149980874C>A | CA447402428 | SLC26A2 | c.1281C>A (p.Ile427=) c.372+2523C>A (n.372+2523C>A) | |
| 5 | g.149980874C= | CA1590738557 | SLC26A2 | c.1281C= (p.Ile427=) c.372+2523C= (n.372+2523C=) | |
| 5 | g.149980874C>G | CA361707543 | SLC26A2 | c.1281C>G (p.Ile427Met) c.372+2523C>G (n.372+2523C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980874C>T | CA447402430 | SLC26A2 | c.1281C>T (p.Ile427=) c.372+2523C>T (n.372+2523C>T) | |
| 5 | g.149980876del | CA2573052453 | SLC26A2 | c.1283del (p.Pro428LeufsTer?) c.372+2525del (n.372+2525del) | ClinVar dbSNP |
| 5 | g.149980874_149980878delinsCCCTT | CA1590738556 | SLC26A2 | c.1281_1285delinsCCCTT (p.Ile427=) c.372+2523_372+2527delinsCCCTT (n.372+2523_372+2527delinsCCCTT) | |
| 5 | g.149980875C>A | CA361707544 | SLC26A2 | c.1282C>A (p.Pro428Thr) c.372+2524C>A (n.372+2524C>A) | |
| 5 | g.149980875C>G | CA361707545 | SLC26A2 | c.1282C>G (p.Pro428Ala) c.372+2524C>G (n.372+2524C>G) | |
| 5 | g.149980875C>T | CA361707546 | SLC26A2 | c.1282C>T (p.Pro428Ser) c.372+2524C>T (n.372+2524C>T) | |
| 5 | g.149980880_149980883del | CA3505415 | SLC26A2 | c.1287_1290del (p.Phe430SerfsTer29) c.372+2529_372+2532del (n.372+2529_372+2532del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980876C>A | CA361707547 | SLC26A2 | c.1283C>A (p.Pro428His) c.372+2525C>A (n.372+2525C>A) | |
| 5 | g.149980876C= | CA1590738558 | SLC26A2 | c.1283C= (p.Pro428=) c.372+2525C= (n.372+2525C=) | |
| 5 | g.149980876C>G | CA361707548 | SLC26A2 | c.1283C>G (p.Pro428Arg) c.372+2525C>G (n.372+2525C>G) | |
| 5 | g.149980876C>T | CA361707549 | SLC26A2 | c.1283C>T (p.Pro428Leu) c.372+2525C>T (n.372+2525C>T) | dbSNP |
| 5 | g.149980877T>A | CA447402433 | SLC26A2 | c.1284T>A (p.Pro428=) c.372+2526T>A (n.372+2526T>A) | |
| 5 | g.149980877T>C | CA447402434 | SLC26A2 | c.1284T>C (p.Pro428=) c.372+2526T>C (n.372+2526T>C) | |
| 5 | g.149980877T>G | CA447402436 | SLC26A2 | c.1284T>G (p.Pro428=) c.372+2526T>G (n.372+2526T>G) | ClinVar |
| 5 | g.149980878T>A | CA361707552 | SLC26A2 | c.1285T>A (p.Ser429Thr) c.372+2527T>A (n.372+2527T>A) | |
| 5 | g.149980878T>C | CA361707550 | SLC26A2 | c.1285T>C (p.Ser429Pro) c.372+2527T>C (n.372+2527T>C) | |
| 5 | g.149980878T>G | CA361707551 | SLC26A2 | c.1285T>G (p.Ser429Ala) c.372+2527T>G (n.372+2527T>G) | |
| 5 | g.149980879C>A | CA361707553 | SLC26A2 | c.1286C>A (p.Ser429Tyr) c.372+2528C>A (n.372+2528C>A) | |
| 5 | g.149980879C= | CA1590738559 | SLC26A2 | c.1286C= (p.Ser429=) c.372+2528C= (n.372+2528C=) | |
| 5 | g.149980879C>G | CA361707554 | SLC26A2 | c.1286C>G (p.Ser429Cys) c.372+2528C>G (n.372+2528C>G) | |
| 5 | g.149980879C>T | CA361707555 | SLC26A2 | c.1286C>T (p.Ser429Phe) c.372+2528C>T (n.372+2528C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980880C>A | CA447402439 | SLC26A2 | c.1287C>A (p.Ser429=) c.372+2529C>A (n.372+2529C>A) | |
| 5 | g.149980880C>G | CA447402437 | SLC26A2 | c.1287C>G (p.Ser429=) c.372+2529C>G (n.372+2529C>G) | |
| 5 | g.149980880C>T | CA447402438 | SLC26A2 | c.1287C>T (p.Ser429=) c.372+2529C>T (n.372+2529C>T) | |
| 5 | g.149980884_149980886del | CA2675943648 | SLC26A2 | c.1291_1293del (p.Phe431del) c.372+2533_372+2535del (n.372+2533_372+2535del) | gnomAD v4 |
| 5 | g.149980881T>A | CA361707556 | SLC26A2 | c.1288T>A (p.Phe430Ile) c.372+2530T>A (n.372+2530T>A) | gnomAD v4 |
| 5 | g.149980881T>C | CA3505416 | SLC26A2 | c.1288T>C (p.Phe430Leu) c.372+2530T>C (n.372+2530T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980881T>G | CA361707557 | SLC26A2 | c.1288T>G (p.Phe430Val) c.372+2530T>G (n.372+2530T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980881T= | CA1590738560 | SLC26A2 | c.1288T= (p.Phe430=) c.372+2530T= (n.372+2530T=) | |
| 5 | g.149980882T>A | CA361707558 | SLC26A2 | c.1289T>A (p.Phe430Tyr) c.372+2531T>A (n.372+2531T>A) | |
| 5 | g.149980882T>C | CA361707559 | SLC26A2 | c.1289T>C (p.Phe430Ser) c.372+2531T>C (n.372+2531T>C) | |
| 5 | g.149980882T>G | CA361707560 | SLC26A2 | c.1289T>G (p.Phe430Cys) c.372+2531T>G (n.372+2531T>G) | |
| 5 | g.149980883C>A | CA361707561 | SLC26A2 | c.1290C>A (p.Phe430Leu) c.372+2532C>A (n.372+2532C>A) | |
| 5 | g.149980883C>G | CA361707562 | SLC26A2 | c.1290C>G (p.Phe430Leu) c.372+2532C>G (n.372+2532C>G) | |
| 5 | g.149980883C>T | CA447402443 | SLC26A2 | c.1290C>T (p.Phe430=) c.372+2532C>T (n.372+2532C>T) | COSMIC |
| 5 | g.149980883dup | CA2675943649 | SLC26A2 | c.1290dup (p.Phe431LeufsTer7) c.372+2532dup (n.372+2532dup) | gnomAD v4 |
| 5 | g.149980884T>A | CA361707564 | SLC26A2 | c.1291T>A (p.Phe431Ile) c.372+2533T>A (n.372+2533T>A) | |
| 5 | g.149980884T>C | CA361707565 | SLC26A2 | c.1291T>C (p.Phe431Leu) c.372+2533T>C (n.372+2533T>C) | |
| 5 | g.149980884T>G | CA361707563 | SLC26A2 | c.1291T>G (p.Phe431Val) c.372+2533T>G (n.372+2533T>G) | |
| 5 | g.149980885T>A | CA3505417 | SLC26A2 | c.1292T>A (p.Phe431Tyr) c.372+2534T>A (n.372+2534T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980885T>C | CA361707566 | SLC26A2 | c.1292T>C (p.Phe431Ser) c.372+2534T>C (n.372+2534T>C) | |
| 5 | g.149980885T>G | CA361707567 | SLC26A2 | c.1292T>G (p.Phe431Cys) c.372+2534T>G (n.372+2534T>G) | |
| 5 | g.149980885T= | CA1590738561 | SLC26A2 | c.1292T= (p.Phe431=) c.372+2534T= (n.372+2534T=) | |
| 5 | g.149980886C>A | CA361707568 | SLC26A2 | c.1293C>A (p.Phe431Leu) c.372+2535C>A (n.372+2535C>A) | |
| 5 | g.149980886C>G | CA361707569 | SLC26A2 | c.1293C>G (p.Phe431Leu) c.372+2535C>G (n.372+2535C>G) | |
| 5 | g.149980886C>T | CA447402445 | SLC26A2 | c.1293C>T (p.Phe431=) c.372+2535C>T (n.372+2535C>T) | gnomAD v4 |
| 5 | g.149980887C>A | CA361707570 | SLC26A2 | c.1294C>A (p.His432Asn) c.372+2536C>A (n.372+2536C>A) | |
| 5 | g.149980887C= | CA1590738562 | SLC26A2 | c.1294C= (p.His432=) c.372+2536C= (n.372+2536C=) | |
| 5 | g.149980887C>G | CA361707571 | SLC26A2 | c.1294C>G (p.His432Asp) c.372+2536C>G (n.372+2536C>G) | |
| 5 | g.149980887C>T | CA361707572 | SLC26A2 | c.1294C>T (p.His432Tyr) c.372+2536C>T (n.372+2536C>T) | dbSNP gnomAD v4 COSMIC |
| 5 | g.149980888A= | CA1590738563 | SLC26A2 | c.1295A= (p.His432=) c.372+2537A= (n.372+2537A=) | |
| 5 | g.149980888A>C | CA361707573 | SLC26A2 | c.1295A>C (p.His432Pro) c.372+2537A>C (n.372+2537A>C) | |
| 5 | g.149980888A>G | CA3505418 | SLC26A2 | c.1295A>G (p.His432Arg) c.372+2537A>G (n.372+2537A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980888A>T | CA361707574 | SLC26A2 | c.1295A>T (p.His432Leu) c.372+2537A>T (n.372+2537A>T) | |
| 5 | g.149980889C>A | CA361707575 | SLC26A2 | c.1296C>A (p.His432Gln) c.372+2538C>A (n.372+2538C>A) | |
| 5 | g.149980889C>G | CA361707576 | SLC26A2 | c.1296C>G (p.His432Gln) c.372+2538C>G (n.372+2538C>G) | |
| 5 | g.149980889C>T | CA447402448 | SLC26A2 | c.1296C>T (p.His432=) c.372+2538C>T (n.372+2538C>T) | |
| 5 | g.149980890T>A | CA361707579 | SLC26A2 | c.1297T>A (p.Cys433Ser) c.372+2539T>A (n.372+2539T>A) | |
| 5 | g.149980890T>C | CA361707578 | SLC26A2 | c.1297T>C (p.Cys433Arg) c.372+2539T>C (n.372+2539T>C) | |
| 5 | g.149980890T>G | CA361707577 | SLC26A2 | c.1297T>G (p.Cys433Gly) c.372+2539T>G (n.372+2539T>G) | |
| 5 | g.149980891G>A | CA361707580 | SLC26A2 | c.1298G>A (p.Cys433Tyr) c.372+2540G>A (n.372+2540G>A) | |
| 5 | g.149980891G>C | CA361707581 | SLC26A2 | c.1298G>C (p.Cys433Ser) c.372+2540G>C (n.372+2540G>C) | gnomAD v4 |
| 5 | g.149980891G>T | CA361707582 | SLC26A2 | c.1298G>T (p.Cys433Phe) c.372+2540G>T (n.372+2540G>T) | |
| 5 | g.149980892T>A | CA361707583 | SLC26A2 | c.1299T>A (p.Cys433Ter) c.372+2541T>A (n.372+2541T>A) | |
| 5 | g.149980892T>C | CA447402452 | SLC26A2 | c.1299T>C (p.Cys433=) c.372+2541T>C (n.372+2541T>C) | |
| 5 | g.149980892T>G | CA361707584 | SLC26A2 | c.1299T>G (p.Cys433Trp) c.372+2541T>G (n.372+2541T>G) | |
| 5 | g.149980895del | CA2675943650 | SLC26A2 | c.1302del (p.Phe434LeufsTer26) c.372+2544del (n.372+2544del) | gnomAD v4 |
| 5 | g.149980893T>A | CA361707585 | SLC26A2 | c.1300T>A (p.Phe434Ile) c.372+2542T>A (n.372+2542T>A) | |
| 5 | g.149980893T>C | CA361707586 | SLC26A2 | c.1300T>C (p.Phe434Leu) c.372+2542T>C (n.372+2542T>C) | |
| 5 | g.149980893T>G | CA361707587 | SLC26A2 | c.1300T>G (p.Phe434Val) c.372+2542T>G (n.372+2542T>G) | |
| 5 | g.149980894T>A | CA361707588 | SLC26A2 | c.1301T>A (p.Phe434Tyr) c.372+2543T>A (n.372+2543T>A) | |
| 5 | g.149980894T>C | CA361707589 | SLC26A2 | c.1301T>C (p.Phe434Ser) c.372+2543T>C (n.372+2543T>C) | |
| 5 | g.149980894T>G | CA3505419 | SLC26A2 | c.1301T>G (p.Phe434Cys) c.372+2543T>G (n.372+2543T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980894T= | CA1590738564 | SLC26A2 | c.1301T= (p.Phe434=) c.372+2543T= (n.372+2543T=) | |
| 5 | g.149980895T>A | CA361707590 | SLC26A2 | c.1302T>A (p.Phe434Leu) c.372+2544T>A (n.372+2544T>A) | |
| 5 | g.149980895T>C | CA447402455 | SLC26A2 | c.1302T>C (p.Phe434=) c.372+2544T>C (n.372+2544T>C) | gnomAD v4 |
| 5 | g.149980895T>G | CA361707591 | SLC26A2 | c.1302T>G (p.Phe434Leu) c.372+2544T>G (n.372+2544T>G) | |
| 5 | g.149980896A>C | CA361707593 | SLC26A2 | c.1303A>C (p.Thr435Pro) c.372+2545A>C (n.372+2545A>C) | |
| 5 | g.149980896A>G | CA361707594 | SLC26A2 | c.1303A>G (p.Thr435Ala) c.372+2545A>G (n.372+2545A>G) | |
| 5 | g.149980896A>T | CA361707592 | SLC26A2 | c.1303A>T (p.Thr435Ser) c.372+2545A>T (n.372+2545A>T) | |
| 5 | g.149980897C>A | CA361707596 | SLC26A2 | c.1304C>A (p.Thr435Asn) c.372+2546C>A (n.372+2546C>A) | |
| 5 | g.149980897C>G | CA361707595 | SLC26A2 | c.1304C>G (p.Thr435Ser) c.372+2546C>G (n.372+2546C>G) | |
| 5 | g.149980897C>T | CA361707597 | SLC26A2 | c.1304C>T (p.Thr435Ile) c.372+2546C>T (n.372+2546C>T) | |
| 5 | g.149980898T>A | CA447402459 | SLC26A2 | c.1305T>A (p.Thr435=) c.372+2547T>A (n.372+2547T>A) | |
| 5 | g.149980898T>C | CA447402460 | SLC26A2 | c.1305T>C (p.Thr435=) c.372+2547T>C (n.372+2547T>C) | ClinVar |
| 5 | g.149980898T>G | CA447402461 | SLC26A2 | c.1305T>G (p.Thr435=) c.372+2547T>G (n.372+2547T>G) | |
| 5 | g.149980898_149980899delinsTA | CA1590738565 | SLC26A2 | c.1305_1306delinsTA (p.Thr435=) c.372+2547_372+2548delinsTA (n.372+2547_372+2548delinsTA) | |
| 5 | g.149980899del | CA563955690 | SLC26A2 | c.1306del (p.Thr436LeufsTer24) c.372+2548del (n.372+2548del) | ClinVar dbSNP gnomAD v2 |
| 5 | g.149980899A= | CA1590738566 | SLC26A2 | c.1306A= (p.Thr436=) c.372+2548A= (n.372+2548A=) | |
| 5 | g.149980899A>C | CA361707598 | SLC26A2 | c.1306A>C (p.Thr436Pro) c.372+2548A>C (n.372+2548A>C) | |
| 5 | g.149980899A>G | CA361707599 | SLC26A2 | c.1306A>G (p.Thr436Ala) c.372+2548A>G (n.372+2548A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980899A>T | CA361707600 | SLC26A2 | c.1306A>T (p.Thr436Ser) c.372+2548A>T (n.372+2548A>T) | |
| 5 | g.149980900C>A | CA361707601 | SLC26A2 | c.1307C>A (p.Thr436Asn) c.372+2549C>A (n.372+2549C>A) | |
| 5 | g.149980900C>G | CA361707602 | SLC26A2 | c.1307C>G (p.Thr436Ser) c.372+2549C>G (n.372+2549C>G) | gnomAD v4 |
| 5 | g.149980900C>T | CA361707603 | SLC26A2 | c.1307C>T (p.Thr436Ile) c.372+2549C>T (n.372+2549C>T) | |
| 5 | g.149980901T>A | CA447402465 | SLC26A2 | c.1308T>A (p.Thr436=) c.372+2550T>A (n.372+2550T>A) | |
| 5 | g.149980901T>C | CA447402466 | SLC26A2 | c.1308T>C (p.Thr436=) c.372+2550T>C (n.372+2550T>C) | gnomAD v4 |
| 5 | g.149980901T>G | CA447402467 | SLC26A2 | c.1308T>G (p.Thr436=) c.372+2550T>G (n.372+2550T>G) | |
| 5 | g.149980902A>C | CA361707604 | SLC26A2 | c.1309A>C (p.Ser437Arg) c.372+2551A>C (n.372+2551A>C) | |
| 5 | g.149980902A>G | CA361707605 | SLC26A2 | c.1309A>G (p.Ser437Gly) c.372+2551A>G (n.372+2551A>G) | |
| 5 | g.149980902A>T | CA361707606 | SLC26A2 | c.1309A>T (p.Ser437Cys) c.372+2551A>T (n.372+2551A>T) | |
| 5 | g.149980903G>A | CA361707607 | SLC26A2 | c.1310G>A (p.Ser437Asn) c.372+2552G>A (n.372+2552G>A) | |
| 5 | g.149980903G>C | CA361707608 | SLC26A2 | c.1310G>C (p.Ser437Thr) c.372+2552G>C (n.372+2552G>C) | |
| 5 | g.149980903G= | CA1590738567 | SLC26A2 | c.1310G= (p.Ser437=) c.372+2552G= (n.372+2552G=) | |
| 5 | g.149980903G>T | CA361707609 | SLC26A2 | c.1310G>T (p.Ser437Ile) c.372+2552G>T (n.372+2552G>T) | |
| 5 | g.149980904T>A | CA361707611 | SLC26A2 | c.1311T>A (p.Ser437Arg) c.372+2553T>A (n.372+2553T>A) | |
| 5 | g.149980904T>C | CA447402471 | SLC26A2 | c.1311T>C (p.Ser437=) c.372+2553T>C (n.372+2553T>C) | |
| 5 | g.149980904T>G | CA361707610 | SLC26A2 | c.1311T>G (p.Ser437Arg) c.372+2553T>G (n.372+2553T>G) | |
| 5 | g.149980904dup | CA16040995 | SLC26A2 | c.1311dup (p.Ala438CysfsTer9) c.372+2553dup (n.372+2553dup) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980905G>A | CA361707612 | SLC26A2 | c.1312G>A (p.Ala438Thr) c.372+2554G>A (n.372+2554G>A) | |
| 5 | g.149980905G>C | CA361707613 | SLC26A2 | c.1312G>C (p.Ala438Pro) c.372+2554G>C (n.372+2554G>C) | |
| 5 | g.149980905G= | CA1590738568 | SLC26A2 | c.1312G= (p.Ala438=) c.372+2554G= (n.372+2554G=) | |
| 5 | g.149980905G>T | CA3505420 | SLC26A2 | c.1312G>T (p.Ala438Ser) c.372+2554G>T (n.372+2554G>T) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.149980906C>A | CA361707614 | SLC26A2 | c.1313C>A (p.Ala438Glu) c.372+2555C>A (n.372+2555C>A) | |
| 5 | g.149980906C>G | CA361707615 | SLC26A2 | c.1313C>G (p.Ala438Gly) c.372+2555C>G (n.372+2555C>G) | |
| 5 | g.149980906C>T | CA361707616 | SLC26A2 | c.1313C>T (p.Ala438Val) c.372+2555C>T (n.372+2555C>T) | |
| 5 | g.149980907A>C | CA447402474 | SLC26A2 | c.1314A>C (p.Ala438=) c.372+2556A>C (n.372+2556A>C) | |
| 5 | g.149980907A>G | CA447402473 | SLC26A2 | c.1314A>G (p.Ala438=) c.372+2556A>G (n.372+2556A>G) | |
| 5 | g.149980907A>T | CA447402475 | SLC26A2 | c.1314A>T (p.Ala438=) c.372+2556A>T (n.372+2556A>T) | |
| 5 | g.149980908G>A | CA361707617 | SLC26A2 | c.1315G>A (p.Ala439Thr) c.372+2557G>A (n.372+2557G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980908G>C | CA361707618 | SLC26A2 | c.1315G>C (p.Ala439Pro) c.372+2557G>C (n.372+2557G>C) | dbSNP |
| 5 | g.149980908G= | CA1590738569 | SLC26A2 | c.1315G= (p.Ala439=) c.372+2557G= (n.372+2557G=) | |
| 5 | g.149980908G>T | CA361707619 | SLC26A2 | c.1315G>T (p.Ala439Ser) c.372+2557G>T (n.372+2557G>T) | |
| 5 | g.149980909C>A | CA361707620 | SLC26A2 | c.1316C>A (p.Ala439Asp) c.372+2558C>A (n.372+2558C>A) | |
| 5 | g.149980909C= | CA1590738570 | SLC26A2 | c.1316C= (p.Ala439=) c.372+2558C= (n.372+2558C=) | |
| 5 | g.149980909C>G | CA361707621 | SLC26A2 | c.1316C>G (p.Ala439Gly) c.372+2558C>G (n.372+2558C>G) | |
| 5 | g.149980909C>T | CA361707622 | SLC26A2 | c.1316C>T (p.Ala439Val) c.372+2558C>T (n.372+2558C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980910T>A | CA447402476 | SLC26A2 | c.1317T>A (p.Ala439=) c.372+2559T>A (n.372+2559T>A) | |
| 5 | g.149980910T>C | CA447402477 | SLC26A2 | c.1317T>C (p.Ala439=) c.372+2559T>C (n.372+2559T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980910T>G | CA447402478 | SLC26A2 | c.1317T>G (p.Ala439=) c.372+2559T>G (n.372+2559T>G) | |
| 5 | g.149980910T= | CA1590738571 | SLC26A2 | c.1317T= (p.Ala439=) c.372+2559T= (n.372+2559T=) | |
| 5 | g.149980911C>A | CA361707624 | SLC26A2 | c.1318C>A (p.Leu440Ile) c.372+2560C>A (n.372+2560C>A) | |
| 5 | g.149980911C= | CA1590738572 | SLC26A2 | c.1318C= (p.Leu440=) c.372+2560C= (n.372+2560C=) | |
| 5 | g.149980911C>G | CA361707625 | SLC26A2 | c.1318C>G (p.Leu440Val) c.372+2560C>G (n.372+2560C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980911C>T | CA361707623 | SLC26A2 | c.1318C>T (p.Leu440Phe) c.372+2560C>T (n.372+2560C>T) | |
| 5 | g.149980912T>A | CA361707626 | SLC26A2 | c.1319T>A (p.Leu440His) c.372+2561T>A (n.372+2561T>A) | |
| 5 | g.149980912T>C | CA361707627 | SLC26A2 | c.1319T>C (p.Leu440Pro) c.372+2561T>C (n.372+2561T>C) | |
| 5 | g.149980912T>G | CA361707628 | SLC26A2 | c.1319T>G (p.Leu440Arg) c.372+2561T>G (n.372+2561T>G) | |
| 5 | g.149980913T>A | CA447402482 | SLC26A2 | c.1320T>A (p.Leu440=) c.372+2562T>A (n.372+2562T>A) | |
| 5 | g.149980913T>C | CA447402480 | SLC26A2 | c.1320T>C (p.Leu440=) c.372+2562T>C (n.372+2562T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980913T>G | CA447402481 | SLC26A2 | c.1320T>G (p.Leu440=) c.372+2562T>G (n.372+2562T>G) | |
| 5 | g.149980913T= | CA1590738573 | SLC26A2 | c.1320T= (p.Leu440=) c.372+2562T= (n.372+2562T=) | |
| 5 | g.149980914G>A | CA361707629 | SLC26A2 | c.1321G>A (p.Ala441Thr) c.372+2563G>A (n.372+2563G>A) | |
| 5 | g.149980914G>C | CA361707630 | SLC26A2 | c.1321G>C (p.Ala441Pro) c.372+2563G>C (n.372+2563G>C) | |
| 5 | g.149980914G>T | CA361707631 | SLC26A2 | c.1321G>T (p.Ala441Ser) c.372+2563G>T (n.372+2563G>T) | |
| 5 | g.149980915C>A | CA361707632 | SLC26A2 | c.1322C>A (p.Ala441Glu) c.372+2564C>A (n.372+2564C>A) | |
| 5 | g.149980915C>G | CA361707633 | SLC26A2 | c.1322C>G (p.Ala441Gly) c.372+2564C>G (n.372+2564C>G) | |
| 5 | g.149980915C>T | CA361707634 | SLC26A2 | c.1322C>T (p.Ala441Val) c.372+2564C>T (n.372+2564C>T) | |
| 5 | g.149980915_149980917delinsCAA | CA1590738574 | SLC26A2 | c.1322_1324delinsCAA (p.Ala441=) c.372+2564_372+2566delinsCAA (n.372+2564_372+2566delinsCAA) | |
| 5 | g.149980916A>C | CA447402485 | SLC26A2 | c.1323A>C (p.Ala441=) c.372+2565A>C (n.372+2565A>C) | |
| 5 | g.149980916A>G | CA447402486 | SLC26A2 | c.1323A>G (p.Ala441=) c.372+2565A>G (n.372+2565A>G) | |
| 5 | g.149980916A>T | CA447402487 | SLC26A2 | c.1323A>T (p.Ala441=) c.372+2565A>T (n.372+2565A>T) | |
| 5 | g.149980917_149980918del | CA129084288 | SLC26A2 | c.1324_1325del (p.Lys442AspfsTer4) c.372+2566_372+2567del (n.372+2566_372+2567del) | dbSNP gnomAD v4 |
| 5 | g.149980917A>C | CA361707635 | SLC26A2 | c.1324A>C (p.Lys442Gln) c.372+2566A>C (n.372+2566A>C) | |
| 5 | g.149980917A>G | CA361707636 | SLC26A2 | c.1324A>G (p.Lys442Glu) c.372+2566A>G (n.372+2566A>G) | |
| 5 | g.149980917A>T | CA361707637 | SLC26A2 | c.1324A>T (p.Lys442Ter) c.372+2566A>T (n.372+2566A>T) | |
| 5 | g.149980918A= | CA1590738575 | SLC26A2 | c.1325A= (p.Lys442=) c.372+2567A= (n.372+2567A=) | |
| 5 | g.149980918A>C | CA3505421 | SLC26A2 | c.1325A>C (p.Lys442Thr) c.372+2567A>C (n.372+2567A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980918A>G | CA361707639 | SLC26A2 | c.1325A>G (p.Lys442Arg) c.372+2567A>G (n.372+2567A>G) | |
| 5 | g.149980918A>T | CA361707638 | SLC26A2 | c.1325A>T (p.Lys442Met) c.372+2567A>T (n.372+2567A>T) | |
| 5 | g.149980919G>A | CA447402489 | SLC26A2 | c.1326G>A (p.Lys442=) c.372+2568G>A (n.372+2568G>A) | gnomAD v4 COSMIC |
| 5 | g.149980919G>C | CA361707640 | SLC26A2 | c.1326G>C (p.Lys442Asn) c.372+2568G>C (n.372+2568G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980919G= | CA1590738576 | SLC26A2 | c.1326G= (p.Lys442=) c.372+2568G= (n.372+2568G=) | |
| 5 | g.149980919G>T | CA361707641 | SLC26A2 | c.1326G>T (p.Lys442Asn) c.372+2568G>T (n.372+2568G>T) | |
| 5 | g.149980920A>C | CA361707642 | SLC26A2 | c.1327A>C (p.Thr443Pro) c.372+2569A>C (n.372+2569A>C) | gnomAD v4 |
| 5 | g.149980920A>G | CA361707643 | SLC26A2 | c.1327A>G (p.Thr443Ala) c.372+2569A>G (n.372+2569A>G) | |
| 5 | g.149980920A>T | CA361707644 | SLC26A2 | c.1327A>T (p.Thr443Ser) c.372+2569A>T (n.372+2569A>T) | |
| 5 | g.149980921C>A | CA361707645 | SLC26A2 | c.1328C>A (p.Thr443Lys) c.372+2570C>A (n.372+2570C>A) | |
| 5 | g.149980921C>G | CA361707646 | SLC26A2 | c.1328C>G (p.Thr443Arg) c.372+2570C>G (n.372+2570C>G) | |
| 5 | g.149980921C>T | CA361707647 | SLC26A2 | c.1328C>T (p.Thr443Ile) c.372+2570C>T (n.372+2570C>T) | |
| 5 | g.149980922A>C | CA447402492 | SLC26A2 | c.1329A>C (p.Thr443=) c.372+2571A>C (n.372+2571A>C) | |
| 5 | g.149980922A>G | CA447402490 | SLC26A2 | c.1329A>G (p.Thr443=) c.372+2571A>G (n.372+2571A>G) | |
| 5 | g.149980922A>T | CA447402491 | SLC26A2 | c.1329A>T (p.Thr443=) c.372+2571A>T (n.372+2571A>T) | gnomAD v4 |
| 5 | g.149980923T>A | CA361707648 | SLC26A2 | c.1330T>A (p.Leu444Met) c.372+2572T>A (n.372+2572T>A) | |
| 5 | g.149980923T>C | CA447402493 | SLC26A2 | c.1330T>C (p.Leu444=) c.372+2572T>C (n.372+2572T>C) | ClinVar |
| 5 | g.149980923T>G | CA361707649 | SLC26A2 | c.1330T>G (p.Leu444Val) c.372+2572T>G (n.372+2572T>G) | dbSNP |
| 5 | g.149980923T= | CA1590738577 | SLC26A2 | c.1330T= (p.Leu444=) c.372+2572T= (n.372+2572T=) | |
| 5 | g.149980924T>A | CA361707650 | SLC26A2 | c.1331T>A (p.Leu444Ter) c.372+2573T>A (n.372+2573T>A) | |
| 5 | g.149980924T>C | CA361707651 | SLC26A2 | c.1331T>C (p.Leu444Ser) c.372+2573T>C (n.372+2573T>C) | |
| 5 | g.149980924T>G | CA361707652 | SLC26A2 | c.1331T>G (p.Leu444Trp) c.372+2573T>G (n.372+2573T>G) | |
| 5 | g.149980925G>A | CA3505422 | SLC26A2 | c.1332G>A (p.Leu444=) c.372+2574G>A (n.372+2574G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980925G>C | CA361707654 | SLC26A2 | c.1332G>C (p.Leu444Phe) c.372+2574G>C (n.372+2574G>C) | |
| 5 | g.149980925G= | CA1590738578 | SLC26A2 | c.1332G= (p.Leu444=) c.372+2574G= (n.372+2574G=) | |
| 5 | g.149980925G>T | CA361707653 | SLC26A2 | c.1332G>T (p.Leu444Phe) c.372+2574G>T (n.372+2574G>T) | |
| 5 | g.149980926G>A | CA129084295 | SLC26A2 | c.1333G>A (p.Val445Ile) c.372+2575G>A (n.372+2575G>A) | dbSNP |
| 5 | g.149980926G>C | CA361707656 | SLC26A2 | c.1333G>C (p.Val445Leu) c.372+2575G>C (n.372+2575G>C) | |
| 5 | g.149980926G= | CA1590738579 | SLC26A2 | c.1333G= (p.Val445=) c.372+2575G= (n.372+2575G=) | |
| 5 | g.149980926G>T | CA361707655 | SLC26A2 | c.1333G>T (p.Val445Phe) c.372+2575G>T (n.372+2575G>T) | |
| 5 | g.149980927T>A | CA361707657 | SLC26A2 | c.1334T>A (p.Val445Asp) c.372+2576T>A (n.372+2576T>A) | |
| 5 | g.149980927T>C | CA361707658 | SLC26A2 | c.1334T>C (p.Val445Ala) c.372+2576T>C (n.372+2576T>C) | |
| 5 | g.149980927T>G | CA361707659 | SLC26A2 | c.1334T>G (p.Val445Gly) c.372+2576T>G (n.372+2576T>G) | |
| 5 | g.149980928T>A | CA447402499 | SLC26A2 | c.1335T>A (p.Val445=) c.372+2577T>A (n.372+2577T>A) | |
| 5 | g.149980928T>C | CA447402497 | SLC26A2 | c.1335T>C (p.Val445=) c.372+2577T>C (n.372+2577T>C) | |
| 5 | g.149980928T>G | CA447402498 | SLC26A2 | c.1335T>G (p.Val445=) c.372+2577T>G (n.372+2577T>G) | |
| 5 | g.149980928_149980929delinsTA | CA1590738580 | SLC26A2 | c.1335_1336delinsTA (p.Val445=) c.372+2577_372+2578delinsTA (n.372+2577_372+2578delinsTA) | |
| 5 | g.149980929A= | CA1590738581 | SLC26A2 | c.1336A= (p.Lys446=) c.372+2578A= (n.372+2578A=) | |
| 5 | g.149980929A>C | CA361707660 | SLC26A2 | c.1336A>C (p.Lys446Gln) c.372+2578A>C (n.372+2578A>C) | |
| 5 | g.149980929A>G | CA361707661 | SLC26A2 | c.1336A>G (p.Lys446Glu) c.372+2578A>G (n.372+2578A>G) | |
| 5 | g.149980929A>T | CA361707662 | SLC26A2 | c.1336A>T (p.Lys446Ter) c.372+2578A>T (n.372+2578A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980931del | CA16040996 | SLC26A2 | c.1338del (p.Glu447AsnfsTer13) c.372+2580del (n.372+2580del) | ClinVar dbSNP |
| 5 | g.149980930A>C | CA361707663 | SLC26A2 | c.1337A>C (p.Lys446Thr) c.372+2579A>C (n.372+2579A>C) | |
| 5 | g.149980930A>G | CA361707664 | SLC26A2 | c.1337A>G (p.Lys446Arg) c.372+2579A>G (n.372+2579A>G) | |
| 5 | g.149980930A>T | CA361707665 | SLC26A2 | c.1337A>T (p.Lys446Ile) c.372+2579A>T (n.372+2579A>T) | |
| 5 | g.149980931A>C | CA361707666 | SLC26A2 | c.1338A>C (p.Lys446Asn) c.372+2580A>C (n.372+2580A>C) | |
| 5 | g.149980931A>G | CA447402501 | SLC26A2 | c.1338A>G (p.Lys446=) c.372+2580A>G (n.372+2580A>G) | |
| 5 | g.149980931A>T | CA361707667 | SLC26A2 | c.1338A>T (p.Lys446Asn) c.372+2580A>T (n.372+2580A>T) | |
| 5 | g.149980932G>A | CA361707670 | SLC26A2 | c.1339G>A (p.Glu447Lys) c.372+2581G>A (n.372+2581G>A) | |
| 5 | g.149980932G>C | CA361707668 | SLC26A2 | c.1339G>C (p.Glu447Gln) c.372+2581G>C (n.372+2581G>C) | |
| 5 | g.149980932G>T | CA361707669 | SLC26A2 | c.1339G>T (p.Glu447Ter) c.372+2581G>T (n.372+2581G>T) | COSMIC |
| 5 | g.149980933A>C | CA361707671 | SLC26A2 | c.1340A>C (p.Glu447Ala) c.372+2582A>C (n.372+2582A>C) | |
| 5 | g.149980933A>G | CA361707672 | SLC26A2 | c.1340A>G (p.Glu447Gly) c.372+2582A>G (n.372+2582A>G) | |
| 5 | g.149980933A>T | CA361707673 | SLC26A2 | c.1340A>T (p.Glu447Val) c.372+2582A>T (n.372+2582A>T) | |
| 5 | g.149980934A>C | CA361707674 | SLC26A2 | c.1341A>C (p.Glu447Asp) c.372+2583A>C (n.372+2583A>C) | |
| 5 | g.149980934A>G | CA447402505 | SLC26A2 | c.1341A>G (p.Glu447=) c.372+2583A>G (n.372+2583A>G) | ClinVar gnomAD v4 |
| 5 | g.149980934A>T | CA361707675 | SLC26A2 | c.1341A>T (p.Glu447Asp) c.372+2583A>T (n.372+2583A>T) | |
| 5 | g.149980935T>A | CA3505423 | SLC26A2 | c.1342T>A (p.Ser448Thr) c.372+2584T>A (n.372+2584T>A) | dbSNP ExAC gnomAD v2 |
| 5 | g.149980935T>C | CA361707676 | SLC26A2 | c.1342T>C (p.Ser448Pro) c.372+2584T>C (n.372+2584T>C) | |
| 5 | g.149980935T>G | CA361707677 | SLC26A2 | c.1342T>G (p.Ser448Ala) c.372+2584T>G (n.372+2584T>G) | gnomAD v4 |
| 5 | g.149980935T= | CA1590738582 | SLC26A2 | c.1342T= (p.Ser448=) c.372+2584T= (n.372+2584T=) | |
| 5 | g.149980936C>A | CA361707678 | SLC26A2 | c.1343C>A (p.Ser448Ter) c.372+2585C>A (n.372+2585C>A) | ClinVar |
| 5 | g.149980936C= | CA1590738583 | SLC26A2 | c.1343C= (p.Ser448=) c.372+2585C= (n.372+2585C=) | |
| 5 | g.149980936C>G | CA3505424 | SLC26A2 | c.1343C>G (p.Ser448Ter) c.372+2585C>G (n.372+2585C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980936C>T | CA361707679 | SLC26A2 | c.1343C>T (p.Ser448Leu) c.372+2585C>T (n.372+2585C>T) | gnomAD v4 |
| 5 | g.149980937A>C | CA447402509 | SLC26A2 | c.1344A>C (p.Ser448=) c.372+2586A>C (n.372+2586A>C) | |
| 5 | g.149980937A>G | CA447402511 | SLC26A2 | c.1344A>G (p.Ser448=) c.372+2586A>G (n.372+2586A>G) | |
| 5 | g.149980937A>T | CA447402508 | SLC26A2 | c.1344A>T (p.Ser448=) c.372+2586A>T (n.372+2586A>T) | |
| 5 | g.149980938A= | CA1590738584 | SLC26A2 | c.1345A= (p.Thr449=) c.372+2587A= (n.372+2587A=) | |
| 5 | g.149980938A>C | CA361707682 | SLC26A2 | c.1345A>C (p.Thr449Pro) c.372+2587A>C (n.372+2587A>C) | |
| 5 | g.149980938A>G | CA361707681 | SLC26A2 | c.1345A>G (p.Thr449Ala) c.372+2587A>G (n.372+2587A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980938A>T | CA361707680 | SLC26A2 | c.1345A>T (p.Thr449Ser) c.372+2587A>T (n.372+2587A>T) | gnomAD v4 |
| 5 | g.149980939C>A | CA361707683 | SLC26A2 | c.1346C>A (p.Thr449Lys) c.372+2588C>A (n.372+2588C>A) | |
| 5 | g.149980939C>G | CA361707684 | SLC26A2 | c.1346C>G (p.Thr449Arg) c.372+2588C>G (n.372+2588C>G) | |
| 5 | g.149980939C>T | CA361707685 | SLC26A2 | c.1346C>T (p.Thr449Ile) c.372+2588C>T (n.372+2588C>T) | |
| 5 | g.149980940A>C | CA447402515 | SLC26A2 | c.1347A>C (p.Thr449=) c.372+2589A>C (n.372+2589A>C) | |
| 5 | g.149980940A>G | CA447402512 | SLC26A2 | c.1347A>G (p.Thr449=) c.372+2589A>G (n.372+2589A>G) | |
| 5 | g.149980940A>T | CA447402513 | SLC26A2 | c.1347A>T (p.Thr449=) c.372+2589A>T (n.372+2589A>T) | |
| 5 | g.149980941G>A | CA361707686 | SLC26A2 | c.1348G>A (p.Gly450Ser) c.372+2590G>A (n.372+2590G>A) | |
| 5 | g.149980941G>C | CA361707687 | SLC26A2 | c.1348G>C (p.Gly450Arg) c.372+2590G>C (n.372+2590G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980941G= | CA1590738585 | SLC26A2 | c.1348G= (p.Gly450=) c.372+2590G= (n.372+2590G=) | |
| 5 | g.149980941G>T | CA361707688 | SLC26A2 | c.1348G>T (p.Gly450Cys) c.372+2590G>T (n.372+2590G>T) | |
| 5 | g.149980942G>A | CA3505425 | SLC26A2 | c.1349G>A (p.Gly450Asp) c.372+2591G>A (n.372+2591G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980942G>C | CA361707689 | SLC26A2 | c.1349G>C (p.Gly450Ala) c.372+2591G>C (n.372+2591G>C) | |
| 5 | g.149980942G= | CA1590738586 | SLC26A2 | c.1349G= (p.Gly450=) c.372+2591G= (n.372+2591G=) | |
| 5 | g.149980942G>T | CA361707690 | SLC26A2 | c.1349G>T (p.Gly450Val) c.372+2591G>T (n.372+2591G>T) | |
| 5 | g.149980943C>A | CA447402518 | SLC26A2 | c.1350C>A (p.Gly450=) c.372+2592C>A (n.372+2592C>A) | gnomAD v4 |
| 5 | g.149980943C>G | CA447402520 | SLC26A2 | c.1350C>G (p.Gly450=) c.372+2592C>G (n.372+2592C>G) | |
| 5 | g.149980943C>T | CA447402519 | SLC26A2 | c.1350C>T (p.Gly450=) c.372+2592C>T (n.372+2592C>T) | |
| 5 | g.149980944T>A | CA361707691 | SLC26A2 | c.1351T>A (p.Cys451Ser) c.372+2593T>A (n.372+2593T>A) | |
| 5 | g.149980944T>C | CA361707692 | SLC26A2 | c.1351T>C (p.Cys451Arg) c.372+2593T>C (n.372+2593T>C) | |
| 5 | g.149980944T>G | CA361707693 | SLC26A2 | c.1351T>G (p.Cys451Gly) c.372+2593T>G (n.372+2593T>G) | |
| 5 | g.149980945G>A | CA361707695 | SLC26A2 | c.1352G>A (p.Cys451Tyr) c.372+2594G>A (n.372+2594G>A) | |
| 5 | g.149980945G>C | CA361707696 | SLC26A2 | c.1352G>C (p.Cys451Ser) c.372+2594G>C (n.372+2594G>C) | |
| 5 | g.149980945G>T | CA361707694 | SLC26A2 | c.1352G>T (p.Cys451Phe) c.372+2594G>T (n.372+2594G>T) |