Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107779679T>A | CA368851341 | SLC26A3 | c.1396A>T (p.Lys466Ter) c.*1187A>T (n.*1187A>T) | |
7 | g.107779679T>C | CA368851342 | SLC26A3 | c.1396A>G (p.Lys466Glu) c.*1187A>G (n.*1187A>G) | |
7 | g.107779679T>G | CA368851343 | SLC26A3 | c.1396A>C (p.Lys466Gln) c.*1187A>C (n.*1187A>C) | |
7 | g.107779680G>A | CA457107550 | SLC26A3 | c.1395C>T (p.Asp465=) c.*1186C>T (n.*1186C>T) | |
7 | g.107779680G>C | CA368851344 | SLC26A3 | c.1395C>G (p.Asp465Glu) c.*1186C>G (n.*1186C>G) | |
7 | g.107779680G>T | CA368851345 | SLC26A3 | c.1395C>A (p.Asp465Glu) c.*1186C>A (n.*1186C>A) | |
7 | g.107779681T>A | CA368851347 | SLC26A3 | c.1394A>T (p.Asp465Val) c.*1185A>T (n.*1185A>T) | |
7 | g.107779681T>C | CA368851348 | SLC26A3 | c.1394A>G (p.Asp465Gly) c.*1185A>G (n.*1185A>G) | |
7 | g.107779681T>G | CA368851346 | SLC26A3 | c.1394A>C (p.Asp465Ala) c.*1185A>C (n.*1185A>C) | |
7 | g.107779682C>A | CA368851349 | SLC26A3 | c.1393G>T (p.Asp465Tyr) c.*1184G>T (n.*1184G>T) | |
7 | g.107779682C= | CA1732787498 | SLC26A3 | c.1393G= (p.Asp465=) c.*1184G= (n.*1184G=) | |
7 | g.107779682C>G | CA368851350 | SLC26A3 | c.1393G>C (p.Asp465His) c.*1184G>C (n.*1184G>C) | |
7 | g.107779682C>T | CA368851351 | SLC26A3 | c.1393G>A (p.Asp465Asn) c.*1184G>A (n.*1184G>A) | dbSNP gnomAD v4 |
7 | g.107779683C>A | CA368851352 | SLC26A3 | c.1392G>T (p.Lys464Asn) c.*1183G>T (n.*1183G>T) | dbSNP |
7 | g.107779683C= | CA1732787502 | SLC26A3 | c.1392G= (p.Lys464=) c.*1183G= (n.*1183G=) | |
7 | g.107779683C>G | CA368851353 | SLC26A3 | c.1392G>C (p.Lys464Asn) c.*1183G>C (n.*1183G>C) | |
7 | g.107779683C>T | CA457107551 | SLC26A3 | c.1392G>A (p.Lys464=) c.*1183G>A (n.*1183G>A) | dbSNP |
7 | g.107779684T>A | CA368851354 | SLC26A3 | c.1391A>T (p.Lys464Met) c.*1182A>T (n.*1182A>T) | |
7 | g.107779684T>C | CA4433846 | SLC26A3 | c.1391A>G (p.Lys464Arg) c.*1182A>G (n.*1182A>G) | dbSNP ExAC gnomAD v2 |
7 | g.107779684T>G | CA368851355 | SLC26A3 | c.1391A>C (p.Lys464Thr) c.*1182A>C (n.*1182A>C) | |
7 | g.107779684T= | CA1732787504 | SLC26A3 | c.1391A= (p.Lys464=) c.*1182A= (n.*1182A=) | |
7 | g.107779685T>A | CA368851356 | SLC26A3 | c.1390A>T (p.Lys464Ter) c.*1181A>T (n.*1181A>T) | |
7 | g.107779685T>C | CA368851357 | SLC26A3 | c.1390A>G (p.Lys464Glu) c.*1181A>G (n.*1181A>G) | |
7 | g.107779685T>G | CA368851358 | SLC26A3 | c.1390A>C (p.Lys464Gln) c.*1181A>C (n.*1181A>C) | |
7 | g.107779686T>A | CA457107552 | SLC26A3 | c.1389A>T (p.Arg463=) c.*1180A>T (n.*1180A>T) | |
7 | g.107779686T>C | CA457107554 | SLC26A3 | c.1389A>G (p.Arg463=) c.*1180A>G (n.*1180A>G) | |
7 | g.107779686T>G | CA457107553 | SLC26A3 | c.1389A>C (p.Arg463=) c.*1180A>C (n.*1180A>C) | |
7 | g.107779687C>A | CA368851359 | SLC26A3 | c.1388G>T (p.Arg463Leu) c.*1179G>T (n.*1179G>T) | gnomAD v4 |
7 | g.107779687C= | CA1732787508 | SLC26A3 | c.1388G= (p.Arg463=) c.*1179G= (n.*1179G=) | |
7 | g.107779687C>G | CA368851360 | SLC26A3 | c.1388G>C (p.Arg463Pro) c.*1179G>C (n.*1179G>C) | |
7 | g.107779687C>T | CA4433847 | SLC26A3 | c.1388G>A (p.Arg463Gln) c.*1179G>A (n.*1179G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.107779688G>A | CA144052 | SLC26A3 | c.1387C>T (p.Arg463Ter) c.*1178C>T (n.*1178C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.107779688G>C | CA368851361 | SLC26A3 | c.1387C>G (p.Arg463Gly) c.*1178C>G (n.*1178C>G) | |
7 | g.107779688G= | CA1732787514 | SLC26A3 | c.1387C= (p.Arg463=) c.*1178C= (n.*1178C=) | |
7 | g.107779688G>T | CA457107555 | SLC26A3 | c.1387C>A (p.Arg463=) c.*1178C>A (n.*1178C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107779689C>A | CA368851362 | SLC26A3 | c.1386G>T (p.Trp462Cys) c.*1177G>T (n.*1177G>T) | |
7 | g.107779689C= | CA1732787522 | SLC26A3 | c.1386G= (p.Trp462=) c.*1177G= (n.*1177G=) | |
7 | g.107779689C>G | CA368851363 | SLC26A3 | c.1386G>C (p.Trp462Cys) c.*1177G>C (n.*1177G>C) | |
7 | g.107779689C>T | CA126858 | SLC26A3 | c.1386G>A (p.Trp462Ter) c.*1177G>A (n.*1177G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107779690C>A | CA368851364 | SLC26A3 | c.1385G>T (p.Trp462Leu) c.*1176G>T (n.*1176G>T) | |
7 | g.107779690C= | CA1732787529 | SLC26A3 | c.1385G= (p.Trp462=) c.*1176G= (n.*1176G=) | |
7 | g.107779690C>G | CA368851365 | SLC26A3 | c.1385G>C (p.Trp462Ser) c.*1176G>C (n.*1176G>C) | |
7 | g.107779690C>T | CA4433848 | SLC26A3 | c.1385G>A (p.Trp462Ter) c.*1176G>A (n.*1176G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107779691A= | CA1732787534 | SLC26A3 | c.1384T= (p.Trp462=) c.*1175T= (n.*1175T=) | |
7 | g.107779691A>C | CA368851366 | SLC26A3 | c.1384T>G (p.Trp462Gly) c.*1175T>G (n.*1175T>G) | gnomAD v4 |
7 | g.107779691A>G | CA4433849 | SLC26A3 | c.1384T>C (p.Trp462Arg) c.*1175T>C (n.*1175T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107779691A>T | CA368851367 | SLC26A3 | c.1384T>A (p.Trp462Arg) c.*1175T>A (n.*1175T>A) | |
7 | g.107779692C>A | CA368851368 | SLC26A3 | c.1383G>T (p.Leu461Phe) c.*1174G>T (n.*1174G>T) | |
7 | g.107779692C>G | CA368851369 | SLC26A3 | c.1383G>C (p.Leu461Phe) c.*1174G>C (n.*1174G>C) | |
7 | g.107779692C>T | CA457107556 | SLC26A3 | c.1383G>A (p.Leu461=) c.*1174G>A (n.*1174G>A) | gnomAD v4 |
7 | g.107779693A>C | CA368851370 | SLC26A3 | c.1382T>G (p.Leu461Trp) c.*1173T>G (n.*1173T>G) | |
7 | g.107779693A>G | CA368851371 | SLC26A3 | c.1382T>C (p.Leu461Ser) c.*1173T>C (n.*1173T>C) | ClinVar dbSNP |
7 | g.107779693A>T | CA368851372 | SLC26A3 | c.1382T>A (p.Leu461Ter) c.*1173T>A (n.*1173T>A) | |
7 | g.107779694A>C | CA368851374 | SLC26A3 | c.1381T>G (p.Leu461Val) c.*1172T>G (n.*1172T>G) | |
7 | g.107779694A>G | CA457107557 | SLC26A3 | c.1381T>C (p.Leu461=) c.*1172T>C (n.*1172T>C) | |
7 | g.107779694A>T | CA368851373 | SLC26A3 | c.1381T>A (p.Leu461Met) c.*1172T>A (n.*1172T>A) | |
7 | g.107779695T>A | CA368851375 | SLC26A3 | c.1380A>T (p.Arg460Ser) c.*1171A>T (n.*1171A>T) | |
7 | g.107779695T>C | CA4433850 | SLC26A3 | c.1380A>G (p.Arg460=) c.*1171A>G (n.*1171A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107779695T>G | CA368851376 | SLC26A3 | c.1380A>C (p.Arg460Ser) c.*1171A>C (n.*1171A>C) | |
7 | g.107779695T= | CA1732787539 | SLC26A3 | c.1380A= (p.Arg460=) c.*1171A= (n.*1171A=) | |
7 | g.107779696C>A | CA368851377 | SLC26A3 | c.1379G>T (p.Arg460Ile) c.*1170G>T (n.*1170G>T) | |
7 | g.107779696C>G | CA368851378 | SLC26A3 | c.1379G>C (p.Arg460Thr) c.*1170G>C (n.*1170G>C) | |
7 | g.107779696C>T | CA368851379 | SLC26A3 | c.1379G>A (p.Arg460Lys) c.*1170G>A (n.*1170G>A) | gnomAD v4 |
7 | g.107779697T>A | CA368851380 | SLC26A3 | c.1378A>T (p.Arg460Ter) c.*1169A>T (n.*1169A>T) | |
7 | g.107779697T>C | CA368851381 | SLC26A3 | c.1378A>G (p.Arg460Gly) c.*1169A>G (n.*1169A>G) | |
7 | g.107779697T>G | CA457107558 | SLC26A3 | c.1378A>C (p.Arg460=) c.*1169A>C (n.*1169A>C) | |
7 | g.107779698G>A | CA457107559 | SLC26A3 | c.1377C>T (p.Gly459=) c.*1168C>T (n.*1168C>T) | |
7 | g.107779698G>C | CA457107560 | SLC26A3 | c.1377C>G (p.Gly459=) c.*1168C>G (n.*1168C>G) | |
7 | g.107779698G>T | CA457107561 | SLC26A3 | c.1377C>A (p.Gly459=) c.*1168C>A (n.*1168C>A) | |
7 | g.107779699C>A | CA368851382 | SLC26A3 | c.1376G>T (p.Gly459Val) c.*1167G>T (n.*1167G>T) | |
7 | g.107779699C>G | CA368851383 | SLC26A3 | c.1376G>C (p.Gly459Ala) c.*1167G>C (n.*1167G>C) | |
7 | g.107779699C>T | CA368851385 | SLC26A3 | c.1376G>A (p.Gly459Asp) c.*1167G>A (n.*1167G>A) | |
7 | g.107779700C>A | CA368851386 | SLC26A3 | c.1375G>T (p.Gly459Cys) c.*1166G>T (n.*1166G>T) | |
7 | g.107779700C>G | CA368851388 | SLC26A3 | c.1375G>C (p.Gly459Arg) c.*1166G>C (n.*1166G>C) | |
7 | g.107779700C>T | CA368851387 | SLC26A3 | c.1375G>A (p.Gly459Ser) c.*1166G>A (n.*1166G>A) | |
7 | g.107779701T>A | CA457107562 | SLC26A3 | c.1374A>T (p.Ile458=) c.*1165A>T (n.*1165A>T) | |
7 | g.107779701T>C | CA368851389 | SLC26A3 | c.1374A>G (p.Ile458Met) c.*1165A>G (n.*1165A>G) | |
7 | g.107779701T>G | CA457107563 | SLC26A3 | c.1374A>C (p.Ile458=) c.*1165A>C (n.*1165A>C) | |
7 | g.107779702A>C | CA368851390 | SLC26A3 | c.1373T>G (p.Ile458Arg) c.*1164T>G (n.*1164T>G) | |
7 | g.107779702A>G | CA368851391 | SLC26A3 | c.1373T>C (p.Ile458Thr) c.*1164T>C (n.*1164T>C) | |
7 | g.107779702A>T | CA368851392 | SLC26A3 | c.1373T>A (p.Ile458Lys) c.*1164T>A (n.*1164T>A) | |
7 | g.107779703T>A | CA368851393 | SLC26A3 | c.1372A>T (p.Ile458Leu) c.*1163A>T (n.*1163A>T) | |
7 | g.107779703T>C | CA368851395 | SLC26A3 | c.1372A>G (p.Ile458Val) c.*1163A>G (n.*1163A>G) | ClinVar |
7 | g.107779703T>G | CA368851394 | SLC26A3 | c.1372A>C (p.Ile458Leu) c.*1163A>C (n.*1163A>C) | |
7 | g.107779704T>A | CA368851396 | SLC26A3 | c.1371A>T (p.Glu457Asp) c.*1162A>T (n.*1162A>T) | |
7 | g.107779704T>C | CA457107564 | SLC26A3 | c.1371A>G (p.Glu457=) c.*1162A>G (n.*1162A>G) | |
7 | g.107779704T>G | CA368851397 | SLC26A3 | c.1371A>C (p.Glu457Asp) c.*1162A>C (n.*1162A>C) | |
7 | g.107779705T>A | CA368851398 | SLC26A3 | c.1370A>T (p.Glu457Val) c.*1161A>T (n.*1161A>T) | |
7 | g.107779705T>C | CA368851399 | SLC26A3 | c.1370A>G (p.Glu457Gly) c.*1161A>G (n.*1161A>G) | |
7 | g.107779705T>G | CA368851400 | SLC26A3 | c.1370A>C (p.Glu457Ala) c.*1161A>C (n.*1161A>C) | |
7 | g.107779706C>A | CA368851401 | SLC26A3 | c.1369G>T (p.Glu457Ter) c.*1160G>T (n.*1160G>T) | ClinVar |
7 | g.107779706C>G | CA368851402 | SLC26A3 | c.1369G>C (p.Glu457Gln) c.*1160G>C (n.*1160G>C) | |
7 | g.107779706C>T | CA368851403 | SLC26A3 | c.1369G>A (p.Glu457Lys) c.*1160G>A (n.*1160G>A) | dbSNP gnomAD v4 |
7 | g.107779707A>C | CA457107567 | SLC26A3 | c.1368T>G (p.Ala456=) c.*1159T>G (n.*1159T>G) | |
7 | g.107779707A>G | CA457107566 | SLC26A3 | c.1368T>C (p.Ala456=) c.*1159T>C (n.*1159T>C) | |
7 | g.107779707A>T | CA457107565 | SLC26A3 | c.1368T>A (p.Ala456=) c.*1159T>A (n.*1159T>A) | |
7 | g.107779708G>A | CA368851404 | SLC26A3 | c.1367C>T (p.Ala456Val) c.*1158C>T (n.*1158C>T) | gnomAD v4 |
7 | g.107779708G>C | CA368851405 | SLC26A3 | c.1367C>G (p.Ala456Gly) c.*1158C>G (n.*1158C>G) | gnomAD v4 |
7 | g.107779708G>T | CA368851406 | SLC26A3 | c.1367C>A (p.Ala456Asp) c.*1158C>A (n.*1158C>A) | |
7 | g.107779709C>A | CA368851407 | SLC26A3 | c.1366G>T (p.Ala456Ser) c.*1157G>T (n.*1157G>T) | |
7 | g.107779709C>G | CA368851409 | SLC26A3 | c.1366G>C (p.Ala456Pro) c.*1157G>C (n.*1157G>C) | |
7 | g.107779709C>T | CA368851408 | SLC26A3 | c.1366G>A (p.Ala456Thr) c.*1157G>A (n.*1157G>A) | gnomAD v4 |
7 | g.107779710A>C | CA368851410 | SLC26A3 | c.1365T>G (p.Phe455Leu) c.*1156T>G (n.*1156T>G) | |
7 | g.107779710A>G | CA457107568 | SLC26A3 | c.1365T>C (p.Phe455=) c.*1156T>C (n.*1156T>C) | |
7 | g.107779710A>T | CA368851411 | SLC26A3 | c.1365T>A (p.Phe455Leu) c.*1156T>A (n.*1156T>A) | |
7 | g.107779711A>C | CA368851412 | SLC26A3 | c.1364T>G (p.Phe455Cys) c.*1155T>G (n.*1155T>G) | |
7 | g.107779711A>G | CA368851413 | SLC26A3 | c.1364T>C (p.Phe455Ser) c.*1155T>C (n.*1155T>C) | |
7 | g.107779711A>T | CA368851414 | SLC26A3 | c.1364T>A (p.Phe455Tyr) c.*1155T>A (n.*1155T>A) | |
7 | g.107779712A>C | CA368851415 | SLC26A3 | c.1363T>G (p.Phe455Val) c.*1154T>G (n.*1154T>G) | |
7 | g.107779712A>G | CA368851416 | SLC26A3 | c.1363T>C (p.Phe455Leu) c.*1154T>C (n.*1154T>C) | |
7 | g.107779712A>T | CA368851417 | SLC26A3 | c.1363T>A (p.Phe455Ile) c.*1154T>A (n.*1154T>A) | |
7 | g.107779712_107779713delinsAC | CA1732787543 | SLC26A3 | c.1362_1363delinsGT (p.Gln454=) c.*1153_*1154delinsGT (n.*1153_*1154delinsGT) | |
7 | g.107779713del | CA144051 | SLC26A3 | c.1362del (p.Gln454HisfsTer5) c.*1153del (n.*1153del) | ClinVar dbSNP |
7 | g.107779713C>A | CA368851418 | SLC26A3 | c.1362G>T (p.Gln454His) c.*1153G>T (n.*1153G>T) | |
7 | g.107779713C>G | CA368851419 | SLC26A3 | c.1362G>C (p.Gln454His) c.*1153G>C (n.*1153G>C) | |
7 | g.107779713C>T | CA457107569 | SLC26A3 | c.1362G>A (p.Gln454=) c.*1153G>A (n.*1153G>A) | |
7 | g.107779714T>A | CA368851422 | SLC26A3 | c.1361A>T (p.Gln454Leu) c.*1152A>T (n.*1152A>T) | |
7 | g.107779714T>C | CA368851421 | SLC26A3 | c.1361A>G (p.Gln454Arg) c.*1152A>G (n.*1152A>G) | |
7 | g.107779714T>G | CA368851420 | SLC26A3 | c.1361A>C (p.Gln454Pro) c.*1152A>C (n.*1152A>C) | |
7 | g.107779715G>A | CA144048 | SLC26A3 | c.1360C>T (p.Gln454Ter) c.*1151C>T (n.*1151C>T) | ClinVar dbSNP COSMIC |
7 | g.107779715G>C | CA368851423 | SLC26A3 | c.1360C>G (p.Gln454Glu) c.*1151C>G (n.*1151C>G) | |
7 | g.107779715G= | CA1732787552 | SLC26A3 | c.1360C= (p.Gln454=) c.*1151C= (n.*1151C=) | |
7 | g.107779715G>T | CA368851424 | SLC26A3 | c.1360C>A (p.Gln454Lys) c.*1151C>A (n.*1151C>A) | COSMIC |
7 | g.107779716C>A | CA368851425 | SLC26A3 | c.1359G>T (p.Met453Ile) c.*1150G>T (n.*1150G>T) | |
7 | g.107779716C= | CA1732787558 | SLC26A3 | c.1359G= (p.Met453=) c.*1150G= (n.*1150G=) | |
7 | g.107779716C>G | CA368851426 | SLC26A3 | c.1359G>C (p.Met453Ile) c.*1150G>C (n.*1150G>C) | |
7 | g.107779716C>T | CA368851427 | SLC26A3 | c.1359G>A (p.Met453Ile) c.*1150G>A (n.*1150G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107779717A>C | CA368851428 | SLC26A3 | c.1358T>G (p.Met453Arg) c.*1149T>G (n.*1149T>G) | |
7 | g.107779717A>G | CA368851429 | SLC26A3 | c.1358T>C (p.Met453Thr) c.*1149T>C (n.*1149T>C) | gnomAD v4 |
7 | g.107779717A>T | CA368851430 | SLC26A3 | c.1358T>A (p.Met453Lys) c.*1149T>A (n.*1149T>A) | |
7 | g.107779718T>A | CA368851431 | SLC26A3 | c.1357A>T (p.Met453Leu) c.*1148A>T (n.*1148A>T) | |
7 | g.107779718T>C | CA368851432 | SLC26A3 | c.1357A>G (p.Met453Val) c.*1148A>G (n.*1148A>G) | |
7 | g.107779718T>G | CA368851433 | SLC26A3 | c.1357A>C (p.Met453Leu) c.*1148A>C (n.*1148A>C) | |
7 | g.107779719C>A | CA457107570 | SLC26A3 | c.1356G>T (p.Leu452=) c.*1147G>T (n.*1147G>T) | |
7 | g.107779719C>G | CA457107571 | SLC26A3 | c.1356G>C (p.Leu452=) c.*1147G>C (n.*1147G>C) | |
7 | g.107779719C>T | CA457107572 | SLC26A3 | c.1356G>A (p.Leu452=) c.*1147G>A (n.*1147G>A) | |
7 | g.107779720A= | CA1732787563 | SLC26A3 | c.1355T= (p.Leu452=) c.*1146T= (n.*1146T=) | |
7 | g.107779720A>C | CA368851436 | SLC26A3 | c.1355T>G (p.Leu452Arg) c.*1146T>G (n.*1146T>G) | |
7 | g.107779720A>G | CA368851435 | SLC26A3 | c.1355T>C (p.Leu452Pro) c.*1146T>C (n.*1146T>C) | gnomAD v4 |
7 | g.107779720A>T | CA368851434 | SLC26A3 | c.1355T>A (p.Leu452Gln) c.*1146T>A (n.*1146T>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107779721G>A | CA164238456 | SLC26A3 | c.1354C>T (p.Leu452=) c.*1145C>T (n.*1145C>T) | dbSNP gnomAD v4 |
7 | g.107779721G>C | CA368851438 | SLC26A3 | c.1354C>G (p.Leu452Val) c.*1145C>G (n.*1145C>G) | gnomAD v4 |
7 | g.107779721G= | CA1732787566 | SLC26A3 | c.1354C= (p.Leu452=) c.*1145C= (n.*1145C=) | |
7 | g.107779721G>T | CA368851437 | SLC26A3 | c.1354C>A (p.Leu452Met) c.*1145C>A (n.*1145C>A) | |
7 | g.107779722C>A | CA368851439 | SLC26A3 | c.1353G>T (p.Met451Ile) c.*1144G>T (n.*1144G>T) | |
7 | g.107779722C>G | CA368851440 | SLC26A3 | c.1353G>C (p.Met451Ile) c.*1144G>C (n.*1144G>C) | |
7 | g.107779722C>T | CA368851441 | SLC26A3 | c.1353G>A (p.Met451Ile) c.*1144G>A (n.*1144G>A) | |
7 | g.107779723A>C | CA368851442 | SLC26A3 | c.1352T>G (p.Met451Arg) c.*1143T>G (n.*1143T>G) | |
7 | g.107779723A>G | CA368851443 | SLC26A3 | c.1352T>C (p.Met451Thr) c.*1143T>C (n.*1143T>C) | |
7 | g.107779723A>T | CA368851444 | SLC26A3 | c.1352T>A (p.Met451Lys) c.*1143T>A (n.*1143T>A) | |
7 | g.107779724T>A | CA368851445 | SLC26A3 | c.1351A>T (p.Met451Leu) c.*1142A>T (n.*1142A>T) | |
7 | g.107779724T>C | CA368851446 | SLC26A3 | c.1351A>G (p.Met451Val) c.*1142A>G (n.*1142A>G) | |
7 | g.107779724T>G | CA368851447 | SLC26A3 | c.1351A>C (p.Met451Leu) c.*1142A>C (n.*1142A>C) | |
7 | g.107779725T>A | CA457107573 | SLC26A3 | c.1350A>T (p.Gly450=) c.*1141A>T (n.*1141A>T) | |
7 | g.107779725T>C | CA457107574 | SLC26A3 | c.1350A>G (p.Gly450=) c.*1141A>G (n.*1141A>G) | dbSNP gnomAD v4 |
7 | g.107779725T>G | CA457107575 | SLC26A3 | c.1350A>C (p.Gly450=) c.*1141A>C (n.*1141A>C) | |
7 | g.107779725T= | CA1732787568 | SLC26A3 | c.1350A= (p.Gly450=) c.*1141A= (n.*1141A=) | |
7 | g.107779726C>A | CA368851448 | SLC26A3 | c.1349G>T (p.Gly450Val) c.*1140G>T (n.*1140G>T) | |
7 | g.107779726C>G | CA368851449 | SLC26A3 | c.1349G>C (p.Gly450Ala) c.*1140G>C (n.*1140G>C) | |
7 | g.107779726C>T | CA368851450 | SLC26A3 | c.1349G>A (p.Gly450Glu) c.*1140G>A (n.*1140G>A) | |
7 | g.107779727C>A | CA368851453 | SLC26A3 | c.1348G>T (p.Gly450Ter) c.*1139G>T (n.*1139G>T) | |
7 | g.107779727C>G | CA368851451 | SLC26A3 | c.1348G>C (p.Gly450Arg) c.*1139G>C (n.*1139G>C) | |
7 | g.107779727C>T | CA368851452 | SLC26A3 | c.1348G>A (p.Gly450Arg) c.*1139G>A (n.*1139G>A) | COSMIC |
7 | g.107779728C>A | CA368851454 | SLC26A3 | c.1347G>T (p.Lys449Asn) c.*1138G>T (n.*1138G>T) | |
7 | g.107779728C>G | CA368851455 | SLC26A3 | c.1347G>C (p.Lys449Asn) c.*1138G>C (n.*1138G>C) | |
7 | g.107779728C>T | CA457107576 | SLC26A3 | c.1347G>A (p.Lys449=) c.*1138G>A (n.*1138G>A) | gnomAD v4 COSMIC |
7 | g.107779729T>A | CA368851456 | SLC26A3 | c.1346A>T (p.Lys449Met) c.*1137A>T (n.*1137A>T) | gnomAD v4 |
7 | g.107779729T>C | CA368851457 | SLC26A3 | c.1346A>G (p.Lys449Arg) c.*1137A>G (n.*1137A>G) | |
7 | g.107779729T>G | CA368851458 | SLC26A3 | c.1346A>C (p.Lys449Thr) c.*1137A>C (n.*1137A>C) | |
7 | g.107779730T>A | CA368851459 | SLC26A3 | c.1345A>T (p.Lys449Ter) c.*1136A>T (n.*1136A>T) | |
7 | g.107779730T>C | CA368851460 | SLC26A3 | c.1345A>G (p.Lys449Glu) c.*1136A>G (n.*1136A>G) | |
7 | g.107779730T>G | CA368851461 | SLC26A3 | c.1345A>C (p.Lys449Gln) c.*1136A>C (n.*1136A>C) | |
7 | g.107779731T>A | CA368851462 | SLC26A3 | c.1344A>T (p.Leu448Phe) c.*1135A>T (n.*1135A>T) | |
7 | g.107779731T>C | CA457107577 | SLC26A3 | c.1344A>G (p.Leu448=) c.*1135A>G (n.*1135A>G) | |
7 | g.107779731T>G | CA368851463 | SLC26A3 | c.1344A>C (p.Leu448Phe) c.*1135A>C (n.*1135A>C) | |
7 | g.107779731_107779733delinsTAA | CA1732787572 | SLC26A3 | c.1342_1344delinsTTA (p.Leu448=) c.*1133_*1135delinsTTA (n.*1133_*1135delinsTTA) | |
7 | g.107779732A>C | CA368851465 | SLC26A3 | c.1343T>G (p.Leu448Ter) c.*1134T>G (n.*1134T>G) | |
7 | g.107779732A>G | CA368851466 | SLC26A3 | c.1343T>C (p.Leu448Ser) c.*1134T>C (n.*1134T>C) | |
7 | g.107779732A>T | CA368851464 | SLC26A3 | c.1343T>A (p.Leu448Ter) c.*1134T>A (n.*1134T>A) | |
7 | g.107779732_107779733del | CA144047 | SLC26A3 | c.1342_1343del (p.Leu448LysfsTer9) c.*1133_*1134del (n.*1133_*1134del) | ClinVar dbSNP |
7 | g.107779733A>C | CA368851467 | SLC26A3 | c.1342T>G (p.Leu448Val) c.*1133T>G (n.*1133T>G) | |
7 | g.107779733A>G | CA457107578 | SLC26A3 | c.1342T>C (p.Leu448=) c.*1133T>C (n.*1133T>C) | |
7 | g.107779733A>T | CA368851468 | SLC26A3 | c.1342T>A (p.Leu448Ile) c.*1133T>A (n.*1133T>A) | |
7 | g.107779734G>A | CA457107579 | SLC26A3 | c.1341C>T (p.Asn447=) c.*1132C>T (n.*1132C>T) | |
7 | g.107779734G>C | CA368851469 | SLC26A3 | c.1341C>G (p.Asn447Lys) c.*1132C>G (n.*1132C>G) | |
7 | g.107779734G>T | CA368851470 | SLC26A3 | c.1341C>A (p.Asn447Lys) c.*1132C>A (n.*1132C>A) | |
7 | g.107779735T>A | CA368851473 | SLC26A3 | c.1340A>T (p.Asn447Ile) c.*1131A>T (n.*1131A>T) | |
7 | g.107779735T>C | CA368851472 | SLC26A3 | c.1340A>G (p.Asn447Ser) c.*1131A>G (n.*1131A>G) | dbSNP gnomAD v2 |
7 | g.107779735T>G | CA368851471 | SLC26A3 | c.1340A>C (p.Asn447Thr) c.*1131A>C (n.*1131A>C) | |
7 | g.107779735T= | CA1732787583 | SLC26A3 | c.1340A= (p.Asn447=) c.*1131A= (n.*1131A=) | |
7 | g.107779736T>A | CA368851474 | SLC26A3 | c.1339A>T (p.Asn447Tyr) c.*1130A>T (n.*1130A>T) | |
7 | g.107779736T>C | CA368851475 | SLC26A3 | c.1339A>G (p.Asn447Asp) c.*1130A>G (n.*1130A>G) | |
7 | g.107779736T>G | CA368851476 | SLC26A3 | c.1339A>C (p.Asn447His) c.*1130A>C (n.*1130A>C) | |
7 | g.107779737T>A | CA457107580 | SLC26A3 | c.1338A>T (p.Gly446=) c.*1129A>T (n.*1129A>T) | |
7 | g.107779737T>C | CA457107581 | SLC26A3 | c.1338A>G (p.Gly446=) c.*1129A>G (n.*1129A>G) | |
7 | g.107779737T>G | CA457107582 | SLC26A3 | c.1338A>C (p.Gly446=) c.*1129A>C (n.*1129A>C) | |
7 | g.107779738C>A | CA368851477 | SLC26A3 | c.1337G>T (p.Gly446Val) c.*1128G>T (n.*1128G>T) | |
7 | g.107779738C>G | CA368851478 | SLC26A3 | c.1337G>C (p.Gly446Ala) c.*1128G>C (n.*1128G>C) | |
7 | g.107779738C>T | CA368851479 | SLC26A3 | c.1337G>A (p.Gly446Glu) c.*1128G>A (n.*1128G>A) | |
7 | g.107779739C>A | CA368851480 | SLC26A3 | c.1336G>T (p.Gly446Ter) c.*1127G>T (n.*1127G>T) | |
7 | g.107779739C>G | CA368851482 | SLC26A3 | c.1336G>C (p.Gly446Arg) c.*1127G>C (n.*1127G>C) | gnomAD v4 |
7 | g.107779739C>T | CA368851481 | SLC26A3 | c.1336G>A (p.Gly446Arg) c.*1127G>A (n.*1127G>A) | |
7 | g.107779740C>A | CA368851483 | SLC26A3 | c.1335G>T (p.Leu445Phe) c.*1126G>T (n.*1126G>T) | |
7 | g.107779740C>G | CA368851484 | SLC26A3 | c.1335G>C (p.Leu445Phe) c.*1126G>C (n.*1126G>C) | |
7 | g.107779740C>T | CA457107583 | SLC26A3 | c.1335G>A (p.Leu445=) c.*1126G>A (n.*1126G>A) | |
7 | g.107779741A>C | CA368851485 | SLC26A3 | c.1334T>G (p.Leu445Trp) c.*1125T>G (n.*1125T>G) | |
7 | g.107779741A>G | CA368851486 | SLC26A3 | c.1334T>C (p.Leu445Ser) c.*1125T>C (n.*1125T>C) | gnomAD v4 |
7 | g.107779741A>T | CA368851487 | SLC26A3 | c.1334T>A (p.Leu445Ter) c.*1125T>A (n.*1125T>A) | |
7 | g.107779742A= | CA1732787586 | SLC26A3 | c.1333T= (p.Leu445=) c.*1124T= (n.*1124T=) | |
7 | g.107779742A>C | CA368851488 | SLC26A3 | c.1333T>G (p.Leu445Val) c.*1124T>G (n.*1124T>G) | |
7 | g.107779742A>G | CA4433851 | SLC26A3 | c.1333T>C (p.Leu445=) c.*1124T>C (n.*1124T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107779742A>T | CA368851489 | SLC26A3 | c.1333T>A (p.Leu445Met) c.*1124T>A (n.*1124T>A) | gnomAD v4 |
7 | g.107779743T>A | CA457107585 | SLC26A3 | c.1332A>T (p.Ala444=) c.*1123A>T (n.*1123A>T) | |
7 | g.107779743T>C | CA164238470 | SLC26A3 | c.1332A>G (p.Ala444=) c.*1123A>G (n.*1123A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107779743T>G | CA457107584 | SLC26A3 | c.1332A>C (p.Ala444=) c.*1123A>C (n.*1123A>C) | |
7 | g.107779743T= | CA1732787593 | SLC26A3 | c.1332A= (p.Ala444=) c.*1123A= (n.*1123A=) | |
7 | g.107779744G>A | CA368851490 | SLC26A3 | c.1331C>T (p.Ala444Val) c.*1122C>T (n.*1122C>T) | |
7 | g.107779744G>C | CA368851491 | SLC26A3 | c.1331C>G (p.Ala444Gly) c.*1122C>G (n.*1122C>G) | |
7 | g.107779744G>T | CA368851492 | SLC26A3 | c.1331C>A (p.Ala444Glu) c.*1122C>A (n.*1122C>A) | |
7 | g.107779745C>A | CA368851495 | SLC26A3 | c.1330G>T (p.Ala444Ser) c.*1121G>T (n.*1121G>T) | |
7 | g.107779745C>G | CA368851494 | SLC26A3 | c.1330G>C (p.Ala444Pro) c.*1121G>C (n.*1121G>C) | |
7 | g.107779745C>T | CA368851493 | SLC26A3 | c.1330G>A (p.Ala444Thr) c.*1121G>A (n.*1121G>A) | |
7 | g.107779746T>A | CA368851496 | SLC26A3 | c.1329A>T (p.Leu443Phe) c.*1120A>T (n.*1120A>T) | |
7 | g.107779746T>C | CA457107586 | SLC26A3 | c.1329A>G (p.Leu443=) c.*1120A>G (n.*1120A>G) | |
7 | g.107779746T>G | CA368851497 | SLC26A3 | c.1329A>C (p.Leu443Phe) c.*1120A>C (n.*1120A>C) | |
7 | g.107779746dup | CA2684474026 | SLC26A3 | c.1329dup (p.Ala444SerfsTer14) c.*1120dup (n.*1120dup) | gnomAD v4 |
7 | g.107779747A>C | CA368851498 | SLC26A3 | c.1328T>G (p.Leu443Ter) c.*1119T>G (n.*1119T>G) | |
7 | g.107779747A>G | CA368851500 | SLC26A3 | c.1328T>C (p.Leu443Ser) c.*1119T>C (n.*1119T>C) | gnomAD v4 |
7 | g.107779747A>T | CA368851499 | SLC26A3 | c.1328T>A (p.Leu443Ter) c.*1119T>A (n.*1119T>A) | |
7 | g.107779749del | CA2684474027 | SLC26A3 | c.1328del (p.Leu443Ter) c.*1119del (n.*1119del) | gnomAD v4 |
7 | g.107779748A>C | CA368851501 | SLC26A3 | c.1327T>G (p.Leu443Val) c.*1118T>G (n.*1118T>G) | |
7 | g.107779748A>G | CA457107587 | SLC26A3 | c.1327T>C (p.Leu443=) c.*1118T>C (n.*1118T>C) | |
7 | g.107779748A>T | CA368851502 | SLC26A3 | c.1327T>A (p.Leu443Ile) c.*1118T>A (n.*1118T>A) | |
7 | g.107779749A>C | CA457107588 | SLC26A3 | c.1326T>G (p.Ala442=) c.*1117T>G (n.*1117T>G) | gnomAD v4 |
7 | g.107779749A>G | CA457107589 | SLC26A3 | c.1326T>C (p.Ala442=) c.*1117T>C (n.*1117T>C) | ClinVar |
7 | g.107779749A>T | CA457107590 | SLC26A3 | c.1326T>A (p.Ala442=) c.*1117T>A (n.*1117T>A) | |
7 | g.107779750G>A | CA368851503 | SLC26A3 | c.1325C>T (p.Ala442Val) c.*1116C>T (n.*1116C>T) | |
7 | g.107779750G>C | CA368851504 | SLC26A3 | c.1325C>G (p.Ala442Gly) c.*1116C>G (n.*1116C>G) | |
7 | g.107779750G= | CA1732787595 | SLC26A3 | c.1325C= (p.Ala442=) c.*1116C= (n.*1116C=) | |
7 | g.107779750G>T | CA368851505 | SLC26A3 | c.1325C>A (p.Ala442Asp) c.*1116C>A (n.*1116C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107779751C>A | CA368851506 | SLC26A3 | c.1324G>T (p.Ala442Ser) c.*1115G>T (n.*1115G>T) | |
7 | g.107779751C>G | CA368851507 | SLC26A3 | c.1324G>C (p.Ala442Pro) c.*1115G>C (n.*1115G>C) | |
7 | g.107779751C>T | CA368851508 | SLC26A3 | c.1324G>A (p.Ala442Thr) c.*1115G>A (n.*1115G>A) | |
7 | g.107779752T>A | CA457107593 | SLC26A3 | c.1323A>T (p.Ala441=) c.*1114A>T (n.*1114A>T) | |
7 | g.107779752T>C | CA457107594 | SLC26A3 | c.1323A>G (p.Ala441=) c.*1114A>G (n.*1114A>G) | |
7 | g.107779752T>G | CA457107595 | SLC26A3 | c.1323A>C (p.Ala441=) c.*1114A>C (n.*1114A>C) | |
7 | g.107779753G>A | CA368851509 | SLC26A3 | c.1322C>T (p.Ala441Val) c.*1113C>T (n.*1113C>T) | |
7 | g.107779753G>C | CA368851510 | SLC26A3 | c.1322C>G (p.Ala441Gly) c.*1113C>G (n.*1113C>G) | |
7 | g.107779753G= | CA1732787597 | SLC26A3 | c.1322C= (p.Ala441=) c.*1113C= (n.*1113C=) | |
7 | g.107779753G>T | CA368851511 | SLC26A3 | c.1322C>A (p.Ala441Glu) c.*1113C>A (n.*1113C>A) | dbSNP |
7 | g.107779754C>A | CA368851512 | SLC26A3 | c.1321G>T (p.Ala441Ser) c.*1112G>T (n.*1112G>T) | |
7 | g.107779754C>G | CA368851513 | SLC26A3 | c.1321G>C (p.Ala441Pro) c.*1112G>C (n.*1112G>C) | COSMIC |
7 | g.107779754C>T | CA368851514 | SLC26A3 | c.1321G>A (p.Ala441Thr) c.*1112G>A (n.*1112G>A) | |
7 | g.107779755C>A | CA457107597 | SLC26A3 | c.1320G>T (p.Leu440=) c.*1111G>T (n.*1111G>T) | COSMIC |
7 | g.107779755C= | CA1732787605 | SLC26A3 | c.1320G= (p.Leu440=) c.*1111G= (n.*1111G=) | |
7 | g.107779755C>G | CA4433852 | SLC26A3 | c.1320G>C (p.Leu440=) c.*1111G>C (n.*1111G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107779755C>T | CA4433853 | SLC26A3 | c.1320G>A (p.Leu440=) c.*1111G>A (n.*1111G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107779756A>C | CA368851515 | SLC26A3 | c.1319T>G (p.Leu440Arg) c.*1110T>G (n.*1110T>G) | |
7 | g.107779756A>G | CA368851516 | SLC26A3 | c.1319T>C (p.Leu440Pro) c.*1110T>C (n.*1110T>C) | |
7 | g.107779756A>T | CA368851517 | SLC26A3 | c.1319T>A (p.Leu440Gln) c.*1110T>A (n.*1110T>A) | |
7 | g.107779757G>A | CA457107601 | SLC26A3 | c.1318C>T (p.Leu440=) c.*1109C>T (n.*1109C>T) | gnomAD v4 |
7 | g.107779757G>C | CA368851518 | SLC26A3 | c.1318C>G (p.Leu440Val) c.*1109C>G (n.*1109C>G) | |
7 | g.107779757G>T | CA368851519 | SLC26A3 | c.1318C>A (p.Leu440Met) c.*1109C>A (n.*1109C>A) | |
7 | g.107779758G>A | CA457107602 | SLC26A3 | c.1317C>T (p.Val439=) c.*1108C>T (n.*1108C>T) | |
7 | g.107779758G>C | CA457107603 | SLC26A3 | c.1317C>G (p.Val439=) c.*1108C>G (n.*1108C>G) | |
7 | g.107779758G>T | CA457107604 | SLC26A3 | c.1317C>A (p.Val439=) c.*1108C>A (n.*1108C>A) | |
7 | g.107779759A>C | CA368851520 | SLC26A3 | c.1316T>G (p.Val439Gly) c.*1107T>G (n.*1107T>G) | gnomAD v4 |
7 | g.107779759A>G | CA368851521 | SLC26A3 | c.1316T>C (p.Val439Ala) c.*1107T>C (n.*1107T>C) | COSMIC |
7 | g.107779759A>T | CA368851522 | SLC26A3 | c.1316T>A (p.Val439Asp) c.*1107T>A (n.*1107T>A) | |
7 | g.107779760C>A | CA368851523 | SLC26A3 | c.1315G>T (p.Val439Phe) c.*1106G>T (n.*1106G>T) | |
7 | g.107779760C= | CA1732787610 | SLC26A3 | c.1315G= (p.Val439=) c.*1106G= (n.*1106G=) | |
7 | g.107779760C>G | CA368851524 | SLC26A3 | c.1315G>C (p.Val439Leu) c.*1106G>C (n.*1106G>C) | dbSNP |
7 | g.107779760C>T | CA4433854 | SLC26A3 | c.1315G>A (p.Val439Ile) c.*1106G>A (n.*1106G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107779761G>A | CA4433855 | SLC26A3 | c.1314C>T (p.Ser438=) c.*1105C>T (n.*1105C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107779761G>C | CA457107607 | SLC26A3 | c.1314C>G (p.Ser438=) c.*1105C>G (n.*1105C>G) | |
7 | g.107779761G= | CA1732787614 | SLC26A3 | c.1314C= (p.Ser438=) c.*1105C= (n.*1105C=) | |
7 | g.107779761G>T | CA4433856 | SLC26A3 | c.1314C>A (p.Ser438=) c.*1105C>A (n.*1105C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107779762G>A | CA368851525 | SLC26A3 | c.1313C>T (p.Ser438Phe) c.*1104C>T (n.*1104C>T) | COSMIC |
7 | g.107779762G>C | CA368851527 | SLC26A3 | c.1313C>G (p.Ser438Cys) c.*1104C>G (n.*1104C>G) | |
7 | g.107779762G>T | CA368851526 | SLC26A3 | c.1313C>A (p.Ser438Tyr) c.*1104C>A (n.*1104C>A) | |
7 | g.107779763A= | CA1732787620 | SLC26A3 | c.1312T= (p.Ser438=) c.*1103T= (n.*1103T=) | |
7 | g.107779763A>C | CA368851528 | SLC26A3 | c.1312T>G (p.Ser438Ala) c.*1103T>G (n.*1103T>G) | |
7 | g.107779763A>G | CA4433857 | SLC26A3 | c.1312T>C (p.Ser438Pro) c.*1103T>C (n.*1103T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107779763A>T | CA368851529 | SLC26A3 | c.1312T>A (p.Ser438Thr) c.*1103T>A (n.*1103T>A) | |
7 | g.107779763_107779765del | CA2684474028 | SLC26A3 | c.1312-2_1312del c.*1103-2_*1103del | gnomAD v4 |
7 | g.107779764C>A | CA368851530 | SLC26A3 | c.1312-1G>T (n.1312-1G>T) c.*1103-1G>T (n.*1103-1G>T) | ClinVar dbSNP |
7 | g.107779764C= | CA1732787624 | SLC26A3 | c.1312-1G= (n.1312-1G=) c.*1103-1G= (n.*1103-1G=) | |
7 | g.107779764C>G | CA368851531 | SLC26A3 | c.1312-1G>C (n.1312-1G>C) c.*1103-1G>C (n.*1103-1G>C) | |
7 | g.107779764C>T | CA144046 | SLC26A3 | c.1312-1G>A (n.1312-1G>A) c.*1103-1G>A (n.*1103-1G>A) | ClinVar dbSNP gnomAD v4 |
7 | g.107779764_107779766delinsCTG | CA1732787626 | SLC26A3 | c.1312-3_1312-1delinsCAG (n.1312-3_1312-1delinsCAG) c.*1103-3_*1103-1delinsCAG (n.*1103-3_*1103-1delinsCAG) | |
7 | g.107779765T>A | CA368851532 | SLC26A3 | c.1312-2A>T (n.1312-2A>T) c.*1103-2A>T (n.*1103-2A>T) | dbSNP gnomAD v4 |
7 | g.107779765T>C | CA368851533 | SLC26A3 | c.1312-2A>G (n.1312-2A>G) c.*1103-2A>G (n.*1103-2A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107779765T>G | CA368851534 | SLC26A3 | c.1312-2A>C (n.1312-2A>C) c.*1103-2A>C (n.*1103-2A>C) | |
7 | g.107779765T= | CA1732787629 | SLC26A3 | c.1312-2A= (n.1312-2A=) c.*1103-2A= (n.*1103-2A=) | |
7 | g.107779767_107779768del | CA4433858 | SLC26A3 | c.1312-3_1312-2del (n.1312-3_1312-2del) c.*1103-3_*1103-2del (n.*1103-3_*1103-2del) | dbSNP ExAC gnomAD v2 |
7 | g.107779766G>A | CA1732787635 | SLC26A3 | c.1312-3C>T (n.1312-3C>T) c.*1103-3C>T (n.*1103-3C>T) | dbSNP |
7 | g.107779766G= | CA1732787634 | SLC26A3 | c.1312-3C= (n.1312-3C=) c.*1103-3C= (n.*1103-3C=) | |
7 | g.107779767T>C | CA457107616 | SLC26A3 | c.1312-4A>G (n.1312-4A>G) c.*1103-4A>G (n.*1103-4A>G) | ClinVar dbSNP gnomAD v4 |
7 | g.107779767T= | CA1732787636 | SLC26A3 | c.1312-4A= (n.1312-4A=) c.*1103-4A= (n.*1103-4A=) | |
7 | g.107779767_107779770del | CA2684474029 | SLC26A3 | c.1312-7_1312-4del (n.1312-7_1312-4del) c.*1103-7_*1103-4del (n.*1103-7_*1103-4del) | gnomAD v4 |
7 | g.107779768G>A | CA4433859 | SLC26A3 | c.1312-5C>T (n.1312-5C>T) c.*1103-5C>T (n.*1103-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107779768G= | CA1732787639 | SLC26A3 | c.1312-5C= (n.1312-5C=) c.*1103-5C= (n.*1103-5C=) | |
7 | g.107779768_107779769delinsGA | CA1732787638 | SLC26A3 | c.1312-6_1312-5delinsTC (n.1312-6_1312-5delinsTC) c.*1103-6_*1103-5delinsTC (n.*1103-6_*1103-5delinsTC) | |
7 | g.107779769A>T | CA2684474030 | SLC26A3 | c.1312-6T>A (n.1312-6T>A) c.*1103-6T>A (n.*1103-6T>A) | gnomAD v4 |
7 | g.107779773dup | CA2840007000 | SLC26A3 | c.1312-6dup (n.1312-6dup) c.*1103-6dup (n.*1103-6dup) | |
7 | g.107779773del | CA164238487 | SLC26A3 | c.1312-6del (n.1312-6del) c.*1103-6del (n.*1103-6del) | dbSNP gnomAD v4 |
7 | g.107779773A= | CA1732787642 | SLC26A3 | c.1312-10T= (n.1312-10T=) c.*1103-10T= (n.*1103-10T=) | |
7 | g.107779773A>T | CA164238501 | SLC26A3 | c.1312-10T>A (n.1312-10T>A) c.*1103-10T>A (n.*1103-10T>A) | dbSNP |
7 | g.107779774C>T | CA2684474031 | SLC26A3 | c.1312-11G>A (n.1312-11G>A) c.*1103-11G>A (n.*1103-11G>A) | gnomAD v4 |
7 | g.107779775A= | CA1732787644 | SLC26A3 | c.1312-12T= (n.1312-12T=) c.*1103-12T= (n.*1103-12T=) | |
7 | g.107779775A>C | CA4433860 | SLC26A3 | c.1312-12T>G (n.1312-12T>G) c.*1103-12T>G (n.*1103-12T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107779775A>G | CA2684474032 | SLC26A3 | c.1312-12T>C (n.1312-12T>C) c.*1103-12T>C (n.*1103-12T>C) | gnomAD v4 |
7 | g.107779775A>T | CA2684474033 | SLC26A3 | c.1312-12T>A (n.1312-12T>A) c.*1103-12T>A (n.*1103-12T>A) | gnomAD v4 |
7 | g.107779777A>C | CA2684474034 | SLC26A3 | c.1312-14T>G (n.1312-14T>G) c.*1103-14T>G (n.*1103-14T>G) | gnomAD v4 |
7 | g.107779777A>G | CA2739278484 | SLC26A3 | c.1312-14T>C (n.1312-14T>C) c.*1103-14T>C (n.*1103-14T>C) | ClinVar |