OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980774T>A | CA361707316 | SLC26A2 | c.1181T>A (p.Phe394Tyr) c.372+2423T>A (n.372+2423T>A) | |
| 5 | g.149980774T>C | CA361707317 | SLC26A2 | c.1181T>C (p.Phe394Ser) c.372+2423T>C (n.372+2423T>C) | |
| 5 | g.149980774T>G | CA361707318 | SLC26A2 | c.1181T>G (p.Phe394Cys) c.372+2423T>G (n.372+2423T>G) | |
| 5 | g.149980775T>A | CA361707319 | SLC26A2 | c.1182T>A (p.Phe394Leu) c.372+2424T>A (n.372+2424T>A) | |
| 5 | g.149980775T>C | CA447402440 | SLC26A2 | c.1182T>C (p.Phe394=) c.372+2424T>C (n.372+2424T>C) | |
| 5 | g.149980775T>G | CA361707320 | SLC26A2 | c.1182T>G (p.Phe394Leu) c.372+2424T>G (n.372+2424T>G) | |
| 5 | g.149980776G>A | CA361707321 | SLC26A2 | c.1183G>A (p.Ala395Thr) c.372+2425G>A (n.372+2425G>A) | |
| 5 | g.149980776G>C | CA361707322 | SLC26A2 | c.1183G>C (p.Ala395Pro) c.372+2425G>C (n.372+2425G>C) | |
| 5 | g.149980776G= | CA1590738517 | SLC26A2 | c.1183G= (p.Ala395=) c.372+2425G= (n.372+2425G=) | |
| 5 | g.149980776G>T | CA3505399 | SLC26A2 | c.1183G>T (p.Ala395Ser) c.372+2425G>T (n.372+2425G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980777C>A | CA361707323 | SLC26A2 | c.1184C>A (p.Ala395Asp) c.372+2426C>A (n.372+2426C>A) | |
| 5 | g.149980777C>G | CA361707324 | SLC26A2 | c.1184C>G (p.Ala395Gly) c.372+2426C>G (n.372+2426C>G) | |
| 5 | g.149980777C>T | CA361707325 | SLC26A2 | c.1184C>T (p.Ala395Val) c.372+2426C>T (n.372+2426C>T) | |
| 5 | g.149980778T>A | CA447402441 | SLC26A2 | c.1185T>A (p.Ala395=) c.372+2427T>A (n.372+2427T>A) | |
| 5 | g.149980778T>C | CA447402444 | SLC26A2 | c.1185T>C (p.Ala395=) c.372+2427T>C (n.372+2427T>C) | |
| 5 | g.149980778T>G | CA447402442 | SLC26A2 | c.1185T>G (p.Ala395=) c.372+2427T>G (n.372+2427T>G) | |
| 5 | g.149980778T= | CA1590738518 | SLC26A2 | c.1185T= (p.Ala395=) c.372+2427T= (n.372+2427T=) | |
| 5 | g.149980779del | CA2675943645 | SLC26A2 | c.1186del (p.Ile396SerfsTer?) c.372+2428del (n.372+2428del) | gnomAD v4 |
| 5 | g.149980779A= | CA1590738519 | SLC26A2 | c.1186A= (p.Ile396=) c.372+2428A= (n.372+2428A=) | |
| 5 | g.149980779A>C | CA361707326 | SLC26A2 | c.1186A>C (p.Ile396Leu) c.372+2428A>C (n.372+2428A>C) | gnomAD v4 |
| 5 | g.149980779A>G | CA361707327 | SLC26A2 | c.1186A>G (p.Ile396Val) c.372+2428A>G (n.372+2428A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980779A>T | CA361707328 | SLC26A2 | c.1186A>T (p.Ile396Phe) c.372+2428A>T (n.372+2428A>T) | |
| 5 | g.149980779dup | CA3505400 | SLC26A2 | c.1186dup (p.Ile396AsnfsTer7) c.372+2428dup (n.372+2428dup) | dbSNP ExAC |
| 5 | g.149980780T>A | CA361707329 | SLC26A2 | c.1187T>A (p.Ile396Asn) c.372+2429T>A (n.372+2429T>A) | |
| 5 | g.149980780T>C | CA361707330 | SLC26A2 | c.1187T>C (p.Ile396Thr) c.372+2429T>C (n.372+2429T>C) | |
| 5 | g.149980780T>G | CA361707331 | SLC26A2 | c.1187T>G (p.Ile396Ser) c.372+2429T>G (n.372+2429T>G) | |
| 5 | g.149980781C>A | CA447402446 | SLC26A2 | c.1188C>A (p.Ile396=) c.372+2430C>A (n.372+2430C>A) | |
| 5 | g.149980781C= | CA1590738520 | SLC26A2 | c.1188C= (p.Ile396=) c.372+2430C= (n.372+2430C=) | |
| 5 | g.149980781C>G | CA361707332 | SLC26A2 | c.1188C>G (p.Ile396Met) c.372+2430C>G (n.372+2430C>G) | dbSNP |
| 5 | g.149980781C>T | CA447402447 | SLC26A2 | c.1188C>T (p.Ile396=) c.372+2430C>T (n.372+2430C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980782A>C | CA361707335 | SLC26A2 | c.1189A>C (p.Thr397Pro) c.372+2431A>C (n.372+2431A>C) | |
| 5 | g.149980782A>G | CA361707333 | SLC26A2 | c.1189A>G (p.Thr397Ala) c.372+2431A>G (n.372+2431A>G) | |
| 5 | g.149980782A>T | CA361707334 | SLC26A2 | c.1189A>T (p.Thr397Ser) c.372+2431A>T (n.372+2431A>T) | |
| 5 | g.149980783C>A | CA361707336 | SLC26A2 | c.1190C>A (p.Thr397Asn) c.372+2432C>A (n.372+2432C>A) | |
| 5 | g.149980783C= | CA1590738521 | SLC26A2 | c.1190C= (p.Thr397=) c.372+2432C= (n.372+2432C=) | |
| 5 | g.149980783C>G | CA361707337 | SLC26A2 | c.1190C>G (p.Thr397Ser) c.372+2432C>G (n.372+2432C>G) | |
| 5 | g.149980783C>T | CA3505401 | SLC26A2 | c.1190C>T (p.Thr397Ile) c.372+2432C>T (n.372+2432C>T) | dbSNP ExAC gnomAD v2 |
| 5 | g.149980784T>A | CA447402449 | SLC26A2 | c.1191T>A (p.Thr397=) c.372+2433T>A (n.372+2433T>A) | |
| 5 | g.149980784T>C | CA447402450 | SLC26A2 | c.1191T>C (p.Thr397=) c.372+2433T>C (n.372+2433T>C) | gnomAD v4 |
| 5 | g.149980784T>G | CA447402451 | SLC26A2 | c.1191T>G (p.Thr397=) c.372+2433T>G (n.372+2433T>G) | |
| 5 | g.149980785G>A | CA3505402 | SLC26A2 | c.1192G>A (p.Val398Ile) c.372+2434G>A (n.372+2434G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980785G>C | CA361707338 | SLC26A2 | c.1192G>C (p.Val398Leu) c.372+2434G>C (n.372+2434G>C) | gnomAD v4 |
| 5 | g.149980785G= | CA1590738522 | SLC26A2 | c.1192G= (p.Val398=) c.372+2434G= (n.372+2434G=) | |
| 5 | g.149980785G>T | CA361707339 | SLC26A2 | c.1192G>T (p.Val398Leu) c.372+2434G>T (n.372+2434G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980786T>A | CA361707340 | SLC26A2 | c.1193T>A (p.Val398Glu) c.372+2435T>A (n.372+2435T>A) | |
| 5 | g.149980786T>C | CA361707341 | SLC26A2 | c.1193T>C (p.Val398Ala) c.372+2435T>C (n.372+2435T>C) | |
| 5 | g.149980786T>G | CA361707342 | SLC26A2 | c.1193T>G (p.Val398Gly) c.372+2435T>G (n.372+2435T>G) | |
| 5 | g.149980787del | CA1139532190 | SLC26A2 | c.1194del (p.Ser399HisfsTer?) c.372+2436del (n.372+2436del) | |
| 5 | g.149980787A= | CA1590738523 | SLC26A2 | c.1194A= (p.Val398=) c.372+2436A= (n.372+2436A=) | |
| 5 | g.149980787A>C | CA447402453 | SLC26A2 | c.1194A>C (p.Val398=) c.372+2436A>C (n.372+2436A>C) | |
| 5 | g.149980787A>G | CA447402454 | SLC26A2 | c.1194A>G (p.Val398=) c.372+2436A>G (n.372+2436A>G) | |
| 5 | g.149980787A>T | CA10586908 | SLC26A2 | c.1194A>T (p.Val398=) c.372+2436A>T (n.372+2436A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980788T>A | CA361707345 | SLC26A2 | c.1195T>A (p.Ser399Thr) c.372+2437T>A (n.372+2437T>A) | |
| 5 | g.149980788T>C | CA361707343 | SLC26A2 | c.1195T>C (p.Ser399Pro) c.372+2437T>C (n.372+2437T>C) | |
| 5 | g.149980788T>G | CA361707344 | SLC26A2 | c.1195T>G (p.Ser399Ala) c.372+2437T>G (n.372+2437T>G) | dbSNP gnomAD v4 |
| 5 | g.149980788T= | CA1590738524 | SLC26A2 | c.1195T= (p.Ser399=) c.372+2437T= (n.372+2437T=) | |
| 5 | g.149980789C>A | CA361707346 | SLC26A2 | c.1196C>A (p.Ser399Ter) c.372+2438C>A (n.372+2438C>A) | |
| 5 | g.149980789C>G | CA361707347 | SLC26A2 | c.1196C>G (p.Ser399Ter) c.372+2438C>G (n.372+2438C>G) | |
| 5 | g.149980789C>T | CA361707348 | SLC26A2 | c.1196C>T (p.Ser399Leu) c.372+2438C>T (n.372+2438C>T) | |
| 5 | g.149980790A>C | CA447402456 | SLC26A2 | c.1197A>C (p.Ser399=) c.372+2439A>C (n.372+2439A>C) | |
| 5 | g.149980790A>G | CA447402457 | SLC26A2 | c.1197A>G (p.Ser399=) c.372+2439A>G (n.372+2439A>G) | ClinVar gnomAD v4 |
| 5 | g.149980790A>T | CA447402458 | SLC26A2 | c.1197A>T (p.Ser399=) c.372+2439A>T (n.372+2439A>T) | |
| 5 | g.149980791C>A | CA361707349 | SLC26A2 | c.1198C>A (p.Leu400Ile) c.372+2440C>A (n.372+2440C>A) | |
| 5 | g.149980791C= | CA1590738525 | SLC26A2 | c.1198C= (p.Leu400=) c.372+2440C= (n.372+2440C=) | |
| 5 | g.149980791C>G | CA361707350 | SLC26A2 | c.1198C>G (p.Leu400Val) c.372+2440C>G (n.372+2440C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980791C>T | CA361707351 | SLC26A2 | c.1198C>T (p.Leu400Phe) c.372+2440C>T (n.372+2440C>T) | |
| 5 | g.149980792T>A | CA361707352 | SLC26A2 | c.1199T>A (p.Leu400His) c.372+2441T>A (n.372+2441T>A) | |
| 5 | g.149980792T>C | CA361707353 | SLC26A2 | c.1199T>C (p.Leu400Pro) c.372+2441T>C (n.372+2441T>C) | |
| 5 | g.149980792T>G | CA361707354 | SLC26A2 | c.1199T>G (p.Leu400Arg) c.372+2441T>G (n.372+2441T>G) | |
| 5 | g.149980793T>A | CA447402462 | SLC26A2 | c.1200T>A (p.Leu400=) c.372+2442T>A (n.372+2442T>A) | |
| 5 | g.149980793T>C | CA447402463 | SLC26A2 | c.1200T>C (p.Leu400=) c.372+2442T>C (n.372+2442T>C) | |
| 5 | g.149980793T>G | CA447402464 | SLC26A2 | c.1200T>G (p.Leu400=) c.372+2442T>G (n.372+2442T>G) | |
| 5 | g.149980794T>A | CA361707355 | SLC26A2 | c.1201T>A (p.Ser401Thr) c.372+2443T>A (n.372+2443T>A) | gnomAD v4 |
| 5 | g.149980794T>C | CA361707356 | SLC26A2 | c.1201T>C (p.Ser401Pro) c.372+2443T>C (n.372+2443T>C) | |
| 5 | g.149980794T>G | CA361707357 | SLC26A2 | c.1201T>G (p.Ser401Ala) c.372+2443T>G (n.372+2443T>G) | |
| 5 | g.149980795C>A | CA361707359 | SLC26A2 | c.1202C>A (p.Ser401Tyr) c.372+2444C>A (n.372+2444C>A) | gnomAD v4 |
| 5 | g.149980795C>G | CA361707360 | SLC26A2 | c.1202C>G (p.Ser401Cys) c.372+2444C>G (n.372+2444C>G) | |
| 5 | g.149980795C>T | CA361707358 | SLC26A2 | c.1202C>T (p.Ser401Phe) c.372+2444C>T (n.372+2444C>T) | |
| 5 | g.149980796T>A | CA447402470 | SLC26A2 | c.1203T>A (p.Ser401=) c.372+2445T>A (n.372+2445T>A) | |
| 5 | g.149980796T>C | CA447402468 | SLC26A2 | c.1203T>C (p.Ser401=) c.372+2445T>C (n.372+2445T>C) | |
| 5 | g.149980796T>G | CA447402469 | SLC26A2 | c.1203T>G (p.Ser401=) c.372+2445T>G (n.372+2445T>G) | |
| 5 | g.149980797G>A | CA361707362 | SLC26A2 | c.1204G>A (p.Glu402Lys) c.372+2446G>A (n.372+2446G>A) | |
| 5 | g.149980797G>C | CA361707361 | SLC26A2 | c.1204G>C (p.Glu402Gln) c.372+2446G>C (n.372+2446G>C) | |
| 5 | g.149980797G>T | CA361707363 | SLC26A2 | c.1204G>T (p.Glu402Ter) c.372+2446G>T (n.372+2446G>T) | |
| 5 | g.149980798A>C | CA361707364 | SLC26A2 | c.1205A>C (p.Glu402Ala) c.372+2447A>C (n.372+2447A>C) | |
| 5 | g.149980798A>G | CA361707365 | SLC26A2 | c.1205A>G (p.Glu402Gly) c.372+2447A>G (n.372+2447A>G) | |
| 5 | g.149980798A>T | CA361707366 | SLC26A2 | c.1205A>T (p.Glu402Val) c.372+2447A>T (n.372+2447A>T) | |
| 5 | g.149980799G>A | CA447402472 | SLC26A2 | c.1206G>A (p.Glu402=) c.372+2448G>A (n.372+2448G>A) | |
| 5 | g.149980799G>C | CA361707367 | SLC26A2 | c.1206G>C (p.Glu402Asp) c.372+2448G>C (n.372+2448G>C) | |
| 5 | g.149980799G>T | CA361707368 | SLC26A2 | c.1206G>T (p.Glu402Asp) c.372+2448G>T (n.372+2448G>T) | |
| 5 | g.149980800A>C | CA361707371 | SLC26A2 | c.1207A>C (p.Met403Leu) c.372+2449A>C (n.372+2449A>C) | |
| 5 | g.149980800A>G | CA361707370 | SLC26A2 | c.1207A>G (p.Met403Val) c.372+2449A>G (n.372+2449A>G) | |
| 5 | g.149980800A>T | CA361707369 | SLC26A2 | c.1207A>T (p.Met403Leu) c.372+2449A>T (n.372+2449A>T) | |
| 5 | g.149980801T>A | CA3505403 | SLC26A2 | c.1208T>A (p.Met403Lys) c.372+2450T>A (n.372+2450T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980801T>C | CA361707372 | SLC26A2 | c.1208T>C (p.Met403Thr) c.372+2450T>C (n.372+2450T>C) | |
| 5 | g.149980801T>G | CA361707373 | SLC26A2 | c.1208T>G (p.Met403Arg) c.372+2450T>G (n.372+2450T>G) | |
| 5 | g.149980801T= | CA1590738526 | SLC26A2 | c.1208T= (p.Met403=) c.372+2450T= (n.372+2450T=) | |
| 5 | g.149980802del | CA2675943646 | SLC26A2 | c.1209del (p.Met403IlefsTer?) c.372+2451del (n.372+2451del) | gnomAD v4 |
| 5 | g.149980802G>A | CA361707374 | SLC26A2 | c.1209G>A (p.Met403Ile) c.372+2451G>A (n.372+2451G>A) | gnomAD v4 |
| 5 | g.149980802G>C | CA361707375 | SLC26A2 | c.1209G>C (p.Met403Ile) c.372+2451G>C (n.372+2451G>C) | |
| 5 | g.149980802G>T | CA361707376 | SLC26A2 | c.1209G>T (p.Met403Ile) c.372+2451G>T (n.372+2451G>T) | |
| 5 | g.149980803T>A | CA361707377 | SLC26A2 | c.1210T>A (p.Phe404Ile) c.372+2452T>A (n.372+2452T>A) | |
| 5 | g.149980803T>C | CA361707379 | SLC26A2 | c.1210T>C (p.Phe404Leu) c.372+2452T>C (n.372+2452T>C) | |
| 5 | g.149980803T>G | CA361707378 | SLC26A2 | c.1210T>G (p.Phe404Val) c.372+2452T>G (n.372+2452T>G) | |
| 5 | g.149980805del | CA2675943647 | SLC26A2 | c.1212del (p.Phe404LeufsTer?) c.372+2454del (n.372+2454del) | gnomAD v4 |
| 5 | g.149980804T>A | CA361707380 | SLC26A2 | c.1211T>A (p.Phe404Tyr) c.372+2453T>A (n.372+2453T>A) | |
| 5 | g.149980804T>C | CA361707381 | SLC26A2 | c.1211T>C (p.Phe404Ser) c.372+2453T>C (n.372+2453T>C) | |
| 5 | g.149980804T>G | CA361707382 | SLC26A2 | c.1211T>G (p.Phe404Cys) c.372+2453T>G (n.372+2453T>G) | |
| 5 | g.149980805T>A | CA3505404 | SLC26A2 | c.1212T>A (p.Phe404Leu) c.372+2454T>A (n.372+2454T>A) | dbSNP ExAC gnomAD v2 |
| 5 | g.149980805T>C | CA447402479 | SLC26A2 | c.1212T>C (p.Phe404=) c.372+2454T>C (n.372+2454T>C) | |
| 5 | g.149980805T>G | CA361707383 | SLC26A2 | c.1212T>G (p.Phe404Leu) c.372+2454T>G (n.372+2454T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980805T= | CA1590738527 | SLC26A2 | c.1212T= (p.Phe404=) c.372+2454T= (n.372+2454T=) | |
| 5 | g.149980806G>A | CA361707384 | SLC26A2 | c.1213G>A (p.Ala405Thr) c.372+2455G>A (n.372+2455G>A) | dbSNP gnomAD v4 |
| 5 | g.149980806G>C | CA361707385 | SLC26A2 | c.1213G>C (p.Ala405Pro) c.372+2455G>C (n.372+2455G>C) | |
| 5 | g.149980806G= | CA1590738528 | SLC26A2 | c.1213G= (p.Ala405=) c.372+2455G= (n.372+2455G=) | |
| 5 | g.149980806G>T | CA361707386 | SLC26A2 | c.1213G>T (p.Ala405Ser) c.372+2455G>T (n.372+2455G>T) | |
| 5 | g.149980807C>A | CA361707387 | SLC26A2 | c.1214C>A (p.Ala405Asp) c.372+2456C>A (n.372+2456C>A) | |
| 5 | g.149980807C>G | CA361707388 | SLC26A2 | c.1214C>G (p.Ala405Gly) c.372+2456C>G (n.372+2456C>G) | |
| 5 | g.149980807C>T | CA361707389 | SLC26A2 | c.1214C>T (p.Ala405Val) c.372+2456C>T (n.372+2456C>T) | |
| 5 | g.149980808C>A | CA447402483 | SLC26A2 | c.1215C>A (p.Ala405=) c.372+2457C>A (n.372+2457C>A) | |
| 5 | g.149980808C= | CA1590738529 | SLC26A2 | c.1215C= (p.Ala405=) c.372+2457C= (n.372+2457C=) | |
| 5 | g.149980808C>G | CA216016 | SLC26A2 | c.1215C>G (p.Ala405=) c.372+2457C>G (n.372+2457C>G) | ClinVar dbSNP |
| 5 | g.149980808C>T | CA447402484 | SLC26A2 | c.1215C>T (p.Ala405=) c.372+2457C>T (n.372+2457C>T) | |
| 5 | g.149980809A>C | CA361707392 | SLC26A2 | c.1216A>C (p.Lys406Gln) c.372+2458A>C (n.372+2458A>C) | |
| 5 | g.149980809A>G | CA361707390 | SLC26A2 | c.1216A>G (p.Lys406Glu) c.372+2458A>G (n.372+2458A>G) | |
| 5 | g.149980809A>T | CA361707391 | SLC26A2 | c.1216A>T (p.Lys406Ter) c.372+2458A>T (n.372+2458A>T) | |
| 5 | g.149980810A= | CA1590738530 | SLC26A2 | c.1217A= (p.Lys406=) c.372+2459A= (n.372+2459A=) | |
| 5 | g.149980810A>C | CA361707393 | SLC26A2 | c.1217A>C (p.Lys406Thr) c.372+2459A>C (n.372+2459A>C) | |
| 5 | g.149980810A>G | CA361707394 | SLC26A2 | c.1217A>G (p.Lys406Arg) c.372+2459A>G (n.372+2459A>G) | dbSNP gnomAD v4 |
| 5 | g.149980810A>T | CA361707395 | SLC26A2 | c.1217A>T (p.Lys406Met) c.372+2459A>T (n.372+2459A>T) | |
| 5 | g.149980811G>A | CA447402488 | SLC26A2 | c.1218G>A (p.Lys406=) c.372+2460G>A (n.372+2460G>A) | |
| 5 | g.149980811G>C | CA361707396 | SLC26A2 | c.1218G>C (p.Lys406Asn) c.372+2460G>C (n.372+2460G>C) | |
| 5 | g.149980811G>T | CA361707397 | SLC26A2 | c.1218G>T (p.Lys406Asn) c.372+2460G>T (n.372+2460G>T) | |
| 5 | g.149980812A>C | CA361707398 | SLC26A2 | c.1219A>C (p.Lys407Gln) c.372+2461A>C (n.372+2461A>C) | |
| 5 | g.149980812A>G | CA361707399 | SLC26A2 | c.1219A>G (p.Lys407Glu) c.372+2461A>G (n.372+2461A>G) | |
| 5 | g.149980812A>T | CA361707400 | SLC26A2 | c.1219A>T (p.Lys407Ter) c.372+2461A>T (n.372+2461A>T) | |
| 5 | g.149980813A>C | CA361707401 | SLC26A2 | c.1220A>C (p.Lys407Thr) c.372+2462A>C (n.372+2462A>C) | |
| 5 | g.149980813A>G | CA361707402 | SLC26A2 | c.1220A>G (p.Lys407Arg) c.372+2462A>G (n.372+2462A>G) | |
| 5 | g.149980813A>T | CA361707403 | SLC26A2 | c.1220A>T (p.Lys407Ile) c.372+2462A>T (n.372+2462A>T) | |
| 5 | g.149980814A= | CA1590738531 | SLC26A2 | c.1221A= (p.Lys407=) c.372+2463A= (n.372+2463A=) | |
| 5 | g.149980814A>C | CA361707405 | SLC26A2 | c.1221A>C (p.Lys407Asn) c.372+2463A>C (n.372+2463A>C) | |
| 5 | g.149980814A>G | CA3505405 | SLC26A2 | c.1221A>G (p.Lys407=) c.372+2463A>G (n.372+2463A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980814A>T | CA361707404 | SLC26A2 | c.1221A>T (p.Lys407Asn) c.372+2463A>T (n.372+2463A>T) | |
| 5 | g.149980815C>A | CA361707406 | SLC26A2 | c.1222C>A (p.His408Asn) c.372+2464C>A (n.372+2464C>A) | |
| 5 | g.149980815C>G | CA361707407 | SLC26A2 | c.1222C>G (p.His408Asp) c.372+2464C>G (n.372+2464C>G) | |
| 5 | g.149980815C>T | CA361707408 | SLC26A2 | c.1222C>T (p.His408Tyr) c.372+2464C>T (n.372+2464C>T) | gnomAD v4 |
| 5 | g.149980816A= | CA1590738532 | SLC26A2 | c.1223A= (p.His408=) c.372+2465A= (n.372+2465A=) | |
| 5 | g.149980816A>C | CA361707409 | SLC26A2 | c.1223A>C (p.His408Pro) c.372+2465A>C (n.372+2465A>C) | |
| 5 | g.149980816A>G | CA3505406 | SLC26A2 | c.1223A>G (p.His408Arg) c.372+2465A>G (n.372+2465A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980816A>T | CA361707410 | SLC26A2 | c.1223A>T (p.His408Leu) c.372+2465A>T (n.372+2465A>T) | |
| 5 | g.149980817T>A | CA361707411 | SLC26A2 | c.1224T>A (p.His408Gln) c.372+2466T>A (n.372+2466T>A) | ClinVar gnomAD v4 |
| 5 | g.149980817T>C | CA3505407 | SLC26A2 | c.1224T>C (p.His408=) c.372+2466T>C (n.372+2466T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980817T>G | CA361707412 | SLC26A2 | c.1224T>G (p.His408Gln) c.372+2466T>G (n.372+2466T>G) | |
| 5 | g.149980817T= | CA1590738533 | SLC26A2 | c.1224T= (p.His408=) c.372+2466T= (n.372+2466T=) | |
| 5 | g.149980818G>A | CA361707413 | SLC26A2 | c.1225G>A (p.Gly409Ser) c.372+2467G>A (n.372+2467G>A) | |
| 5 | g.149980818G>C | CA361707414 | SLC26A2 | c.1225G>C (p.Gly409Arg) c.372+2467G>C (n.372+2467G>C) | |
| 5 | g.149980818G>T | CA361707415 | SLC26A2 | c.1225G>T (p.Gly409Cys) c.372+2467G>T (n.372+2467G>T) | |
| 5 | g.149980819G>A | CA361707418 | SLC26A2 | c.1226G>A (p.Gly409Asp) c.372+2468G>A (n.372+2468G>A) | |
| 5 | g.149980819G>C | CA361707417 | SLC26A2 | c.1226G>C (p.Gly409Ala) c.372+2468G>C (n.372+2468G>C) | |
| 5 | g.149980819G>T | CA361707416 | SLC26A2 | c.1226G>T (p.Gly409Val) c.372+2468G>T (n.372+2468G>T) | COSMIC |
| 5 | g.149980820T>A | CA447402494 | SLC26A2 | c.1227T>A (p.Gly409=) c.372+2469T>A (n.372+2469T>A) | ClinVar dbSNP |
| 5 | g.149980820T>C | CA447402495 | SLC26A2 | c.1227T>C (p.Gly409=) c.372+2469T>C (n.372+2469T>C) | |
| 5 | g.149980820T>G | CA447402496 | SLC26A2 | c.1227T>G (p.Gly409=) c.372+2469T>G (n.372+2469T>G) | |
| 5 | g.149980821T>A | CA361707419 | SLC26A2 | c.1228T>A (p.Tyr410Asn) c.372+2470T>A (n.372+2470T>A) | |
| 5 | g.149980821T>C | CA361707421 | SLC26A2 | c.1228T>C (p.Tyr410His) c.372+2470T>C (n.372+2470T>C) | |
| 5 | g.149980821T>G | CA361707420 | SLC26A2 | c.1228T>G (p.Tyr410Asp) c.372+2470T>G (n.372+2470T>G) | |
| 5 | g.149980822A= | CA1590738534 | SLC26A2 | c.1229A= (p.Tyr410=) c.372+2471A= (n.372+2471A=) | |
| 5 | g.149980822A>C | CA361707422 | SLC26A2 | c.1229A>C (p.Tyr410Ser) c.372+2471A>C (n.372+2471A>C) | |
| 5 | g.149980822A>G | CA361707423 | SLC26A2 | c.1229A>G (p.Tyr410Cys) c.372+2471A>G (n.372+2471A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980822A>T | CA361707424 | SLC26A2 | c.1229A>T (p.Tyr410Phe) c.372+2471A>T (n.372+2471A>T) | |
| 5 | g.149980823C>A | CA361707425 | SLC26A2 | c.1230C>A (p.Tyr410Ter) c.372+2472C>A (n.372+2472C>A) | |
| 5 | g.149980823C= | CA1590738535 | SLC26A2 | c.1230C= (p.Tyr410=) c.372+2472C= (n.372+2472C=) | |
| 5 | g.149980823C>G | CA361707426 | SLC26A2 | c.1230C>G (p.Tyr410Ter) c.372+2472C>G (n.372+2472C>G) | |
| 5 | g.149980823C>T | CA3505408 | SLC26A2 | c.1230C>T (p.Tyr410=) c.372+2472C>T (n.372+2472C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980824A= | CA1590738536 | SLC26A2 | c.1231A= (p.Thr411=) c.372+2473A= (n.372+2473A=) | |
| 5 | g.149980824A>C | CA361707427 | SLC26A2 | c.1231A>C (p.Thr411Pro) c.372+2473A>C (n.372+2473A>C) | |
| 5 | g.149980824A>G | CA361707428 | SLC26A2 | c.1231A>G (p.Thr411Ala) c.372+2473A>G (n.372+2473A>G) | dbSNP gnomAD v4 |
| 5 | g.149980824A>T | CA361707429 | SLC26A2 | c.1231A>T (p.Thr411Ser) c.372+2473A>T (n.372+2473A>T) | |
| 5 | g.149980825C>A | CA361707430 | SLC26A2 | c.1232C>A (p.Thr411Lys) c.372+2474C>A (n.372+2474C>A) | |
| 5 | g.149980825C>G | CA361707431 | SLC26A2 | c.1232C>G (p.Thr411Arg) c.372+2474C>G (n.372+2474C>G) | |
| 5 | g.149980825C>T | CA361707432 | SLC26A2 | c.1232C>T (p.Thr411Ile) c.372+2474C>T (n.372+2474C>T) | gnomAD v4 |
| 5 | g.149980826A>C | CA447402503 | SLC26A2 | c.1233A>C (p.Thr411=) c.372+2475A>C (n.372+2475A>C) | |
| 5 | g.149980826A>G | CA447402502 | SLC26A2 | c.1233A>G (p.Thr411=) c.372+2475A>G (n.372+2475A>G) | |
| 5 | g.149980826A>T | CA447402500 | SLC26A2 | c.1233A>T (p.Thr411=) c.372+2475A>T (n.372+2475A>T) | |
| 5 | g.149980827G>A | CA3505409 | SLC26A2 | c.1234G>A (p.Val412Ile) c.372+2476G>A (n.372+2476G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980827G>C | CA361707433 | SLC26A2 | c.1234G>C (p.Val412Leu) c.372+2476G>C (n.372+2476G>C) | |
| 5 | g.149980827G= | CA1590738537 | SLC26A2 | c.1234G= (p.Val412=) c.372+2476G= (n.372+2476G=) | |
| 5 | g.149980827G>T | CA361707434 | SLC26A2 | c.1234G>T (p.Val412Phe) c.372+2476G>T (n.372+2476G>T) | |
| 5 | g.149980828T>A | CA361707435 | SLC26A2 | c.1235T>A (p.Val412Asp) c.372+2477T>A (n.372+2477T>A) | |
| 5 | g.149980828T>C | CA361707436 | SLC26A2 | c.1235T>C (p.Val412Ala) c.372+2477T>C (n.372+2477T>C) | gnomAD v4 |
| 5 | g.149980828T>G | CA361707437 | SLC26A2 | c.1235T>G (p.Val412Gly) c.372+2477T>G (n.372+2477T>G) | |
| 5 | g.149980829C>A | CA447402504 | SLC26A2 | c.1236C>A (p.Val412=) c.372+2478C>A (n.372+2478C>A) | |
| 5 | g.149980829C= | CA1590738538 | SLC26A2 | c.1236C= (p.Val412=) c.372+2478C= (n.372+2478C=) | |
| 5 | g.149980829C>G | CA447402507 | SLC26A2 | c.1236C>G (p.Val412=) c.372+2478C>G (n.372+2478C>G) | |
| 5 | g.149980829C>T | CA447402506 | SLC26A2 | c.1236C>T (p.Val412=) c.372+2478C>T (n.372+2478C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980833_149980837del | CA2695198774 | SLC26A2 | c.1240_1244del (p.Ala414ProfsTer10) c.372+2482_372+2486del (n.372+2482_372+2486del) | ClinVar |
| 5 | g.149980830A>C | CA361707438 | SLC26A2 | c.1237A>C (p.Lys413Gln) c.372+2479A>C (n.372+2479A>C) | |
| 5 | g.149980830A>G | CA361707439 | SLC26A2 | c.1237A>G (p.Lys413Glu) c.372+2479A>G (n.372+2479A>G) | |
| 5 | g.149980830A>T | CA361707440 | SLC26A2 | c.1237A>T (p.Lys413Ter) c.372+2479A>T (n.372+2479A>T) | |
| 5 | g.149980831A= | CA1590738539 | SLC26A2 | c.1238A= (p.Lys413=) c.372+2480A= (n.372+2480A=) | |
| 5 | g.149980831A>C | CA361707441 | SLC26A2 | c.1238A>C (p.Lys413Thr) c.372+2480A>C (n.372+2480A>C) | |
| 5 | g.149980831A>G | CA361707442 | SLC26A2 | c.1238A>G (p.Lys413Arg) c.372+2480A>G (n.372+2480A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980831A>T | CA361707443 | SLC26A2 | c.1238A>T (p.Lys413Ile) c.372+2480A>T (n.372+2480A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980832A>C | CA361707444 | SLC26A2 | c.1239A>C (p.Lys413Asn) c.372+2481A>C (n.372+2481A>C) | |
| 5 | g.149980832A>G | CA447402510 | SLC26A2 | c.1239A>G (p.Lys413=) c.372+2481A>G (n.372+2481A>G) | |
| 5 | g.149980832A>T | CA361707445 | SLC26A2 | c.1239A>T (p.Lys413Asn) c.372+2481A>T (n.372+2481A>T) | gnomAD v4 |
| 5 | g.149980833G>A | CA361707448 | SLC26A2 | c.1240G>A (p.Ala414Thr) c.372+2482G>A (n.372+2482G>A) | |
| 5 | g.149980833G>C | CA361707447 | SLC26A2 | c.1240G>C (p.Ala414Pro) c.372+2482G>C (n.372+2482G>C) | |
| 5 | g.149980833G= | CA1590738541 | SLC26A2 | c.1240G= (p.Ala414=) c.372+2482G= (n.372+2482G=) | |
| 5 | g.149980833G>T | CA361707446 | SLC26A2 | c.1240G>T (p.Ala414Ser) c.372+2482G>T (n.372+2482G>T) | dbSNP |
| 5 | g.149980833_149980837delinsGCAAA | CA1590738540 | SLC26A2 | c.1240_1244delinsGCAAA (p.Ala414=) c.372+2482_372+2486delinsGCAAA (n.372+2482_372+2486delinsGCAAA) | |
| 5 | g.149980834C>A | CA361707449 | SLC26A2 | c.1241C>A (p.Ala414Glu) c.372+2483C>A (n.372+2483C>A) | |
| 5 | g.149980834C>G | CA361707450 | SLC26A2 | c.1241C>G (p.Ala414Gly) c.372+2483C>G (n.372+2483C>G) | |
| 5 | g.149980834C>T | CA361707451 | SLC26A2 | c.1241C>T (p.Ala414Val) c.372+2483C>T (n.372+2483C>T) | ClinVar dbSNP |
| 5 | g.149980835_149980838del | CA263250 | SLC26A2 | c.1242_1245del (p.Asn415ArgfsTer?) c.372+2484_372+2487del (n.372+2484_372+2487del) | ClinVar dbSNP |
| 5 | g.149980835A>C | CA447402514 | SLC26A2 | c.1242A>C (p.Ala414=) c.372+2484A>C (n.372+2484A>C) | |
| 5 | g.149980835A>G | CA447402516 | SLC26A2 | c.1242A>G (p.Ala414=) c.372+2484A>G (n.372+2484A>G) | |
| 5 | g.149980835A>T | CA447402517 | SLC26A2 | c.1242A>T (p.Ala414=) c.372+2484A>T (n.372+2484A>T) | |
| 5 | g.149980836A>C | CA361707452 | SLC26A2 | c.1243A>C (p.Asn415His) c.372+2485A>C (n.372+2485A>C) | |
| 5 | g.149980836A>G | CA361707453 | SLC26A2 | c.1243A>G (p.Asn415Asp) c.372+2485A>G (n.372+2485A>G) | |
| 5 | g.149980836A>T | CA361707454 | SLC26A2 | c.1243A>T (p.Asn415Tyr) c.372+2485A>T (n.372+2485A>T) | |
| 5 | g.149980837A>C | CA361707455 | SLC26A2 | c.1244A>C (p.Asn415Thr) c.372+2486A>C (n.372+2486A>C) | |
| 5 | g.149980837A>G | CA361707456 | SLC26A2 | c.1244A>G (p.Asn415Ser) c.372+2486A>G (n.372+2486A>G) | |
| 5 | g.149980837A>T | CA361707457 | SLC26A2 | c.1244A>T (p.Asn415Ile) c.372+2486A>T (n.372+2486A>T) | |
| 5 | g.149980838C>A | CA361707458 | SLC26A2 | c.1245C>A (p.Asn415Lys) c.372+2487C>A (n.372+2487C>A) | gnomAD v4 |
| 5 | g.149980838C>G | CA361707459 | SLC26A2 | c.1245C>G (p.Asn415Lys) c.372+2487C>G (n.372+2487C>G) | |
| 5 | g.149980838C>T | CA447402521 | SLC26A2 | c.1245C>T (p.Asn415=) c.372+2487C>T (n.372+2487C>T) | ClinVar dbSNP |
| 5 | g.149980839C>A | CA361707461 | SLC26A2 | c.1246C>A (p.Gln416Lys) c.372+2488C>A (n.372+2488C>A) | |
| 5 | g.149980839C>G | CA361707462 | SLC26A2 | c.1246C>G (p.Gln416Glu) c.372+2488C>G (n.372+2488C>G) | |
| 5 | g.149980839C>T | CA361707460 | SLC26A2 | c.1246C>T (p.Gln416Ter) c.372+2488C>T (n.372+2488C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980840A= | CA1590738542 | SLC26A2 | c.1247A= (p.Gln416=) c.372+2489A= (n.372+2489A=) | |
| 5 | g.149980840A>C | CA361707463 | SLC26A2 | c.1247A>C (p.Gln416Pro) c.372+2489A>C (n.372+2489A>C) | dbSNP |
| 5 | g.149980840A>G | CA361707464 | SLC26A2 | c.1247A>G (p.Gln416Arg) c.372+2489A>G (n.372+2489A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980840A>T | CA361707465 | SLC26A2 | c.1247A>T (p.Gln416Leu) c.372+2489A>T (n.372+2489A>T) | |
| 5 | g.149980841G>A | CA447402522 | SLC26A2 | c.1248G>A (p.Gln416=) c.372+2490G>A (n.372+2490G>A) | |
| 5 | g.149980841G>C | CA361707466 | SLC26A2 | c.1248G>C (p.Gln416His) c.372+2490G>C (n.372+2490G>C) | |
| 5 | g.149980841G>T | CA361707467 | SLC26A2 | c.1248G>T (p.Gln416His) c.372+2490G>T (n.372+2490G>T) | |
| 5 | g.149980842G>A | CA361707470 | SLC26A2 | c.1249G>A (p.Glu417Lys) c.372+2491G>A (n.372+2491G>A) | |
| 5 | g.149980842G>C | CA361707468 | SLC26A2 | c.1249G>C (p.Glu417Gln) c.372+2491G>C (n.372+2491G>C) | |
| 5 | g.149980842G>T | CA361707469 | SLC26A2 | c.1249G>T (p.Glu417Ter) c.372+2491G>T (n.372+2491G>T) | |
| 5 | g.149980843A>C | CA361707471 | SLC26A2 | c.1250A>C (p.Glu417Ala) c.372+2492A>C (n.372+2492A>C) | |
| 5 | g.149980843A>G | CA361707472 | SLC26A2 | c.1250A>G (p.Glu417Gly) c.372+2492A>G (n.372+2492A>G) | |
| 5 | g.149980843A>T | CA361707473 | SLC26A2 | c.1250A>T (p.Glu417Val) c.372+2492A>T (n.372+2492A>T) | |
| 5 | g.149980845del | CA2768879503 | SLC26A2 | c.1252del (p.Met418CysfsTer?) c.372+2494del (n.372+2494del) | |
| 5 | g.149980844A>C | CA361707474 | SLC26A2 | c.1251A>C (p.Glu417Asp) c.372+2493A>C (n.372+2493A>C) | |
| 5 | g.149980844A>G | CA447402524 | SLC26A2 | c.1251A>G (p.Glu417=) c.372+2493A>G (n.372+2493A>G) | |
| 5 | g.149980844A>T | CA361707475 | SLC26A2 | c.1251A>T (p.Glu417Asp) c.372+2493A>T (n.372+2493A>T) | |
| 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) |