| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |