| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107690203C>A | CA368839271 | SLC26A4 | c.1229C>A (p.Thr410Lys) | ClinVar dbSNP |
| 7 | g.107690203C= | CA1732748398 | SLC26A4 | c.1229C= (p.Thr410=) | |
| 7 | g.107690203C>G | CA368839272 | SLC26A4 | c.1229C>G (p.Thr410Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690203C>T | CA261403 | SLC26A4 | c.1229C>T (p.Thr410Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107690204G>A | CA4432724 | SLC26A4 | c.1230G>A (p.Thr410=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690204G>C | CA4432723 | SLC26A4 | c.1230G>C (p.Thr410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690204G= | CA1732748409 | SLC26A4 | c.1230G= (p.Thr410=) | |
| 7 | g.107690204G>T | CA4432725 | SLC26A4 | c.1230G>T (p.Thr410=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690205G>A | CA368839273 | SLC26A4 | c.1231G>A (p.Ala411Thr) | ClinVar |
| 7 | g.107690205G>C | CA368839274 | SLC26A4 | c.1231G>C (p.Ala411Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690205G= | CA1732748420 | SLC26A4 | c.1231G= (p.Ala411=) | |
| 7 | g.107690205G>T | CA368839275 | SLC26A4 | c.1231G>T (p.Ala411Ser) | dbSNP |
| 7 | g.107690206C>A | CA368839276 | SLC26A4 | c.1232C>A (p.Ala411Asp) | |
| 7 | g.107690206C>G | CA368839277 | SLC26A4 | c.1232C>G (p.Ala411Gly) | |
| 7 | g.107690206C>T | CA368839278 | SLC26A4 | c.1232C>T (p.Ala411Val) | |
| 7 | g.107690207C>A | CA4432727 | SLC26A4 | c.1233C>A (p.Ala411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690207C= | CA1732748431 | SLC26A4 | c.1233C= (p.Ala411=) | |
| 7 | g.107690207C>G | CA457090870 | SLC26A4 | c.1233C>G (p.Ala411=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690207C>T | CA4432726 | SLC26A4 | c.1233C>T (p.Ala411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690208G>A | CA132658 | SLC26A4 | c.1234G>A (p.Val412Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690208G>C | CA368839279 | SLC26A4 | c.1234G>C (p.Val412Leu) | |
| 7 | g.107690208G= | CA1732748439 | SLC26A4 | c.1234G= (p.Val412=) | |
| 7 | g.107690208G>T | CA368839280 | SLC26A4 | c.1234G>T (p.Val412Phe) | ClinVar dbSNP |
| 7 | g.107690209T>A | CA368839282 | SLC26A4 | c.1235T>A (p.Val412Asp) | |
| 7 | g.107690209T>C | CA368839283 | SLC26A4 | c.1235T>C (p.Val412Ala) | |
| 7 | g.107690209T>G | CA368839281 | SLC26A4 | c.1235T>G (p.Val412Gly) | |
| 7 | g.107690210C>A | CA457090889 | SLC26A4 | c.1236C>A (p.Val412=) | gnomAD v4 |
| 7 | g.107690210C>G | CA457090891 | SLC26A4 | c.1236C>G (p.Val412=) | |
| 7 | g.107690210C>T | CA457090892 | SLC26A4 | c.1236C>T (p.Val412=) | |
| 7 | g.107690211del | CA2684466523 | SLC26A4 | c.1237del (p.Gln413ArgfsTer19) c.1237del (p.Gln413ArgfsTer30) c.1237del (p.Gln413ArgfsTer16) | gnomAD v4 |
| 7 | g.107690211C>A | CA368839284 | SLC26A4 | c.1237C>A (p.Gln413Lys) | |
| 7 | g.107690211C>G | CA368839285 | SLC26A4 | c.1237C>G (p.Gln413Glu) | |
| 7 | g.107690211C>T | CA368839286 | SLC26A4 | c.1237C>T (p.Gln413Ter) | |
| 7 | g.107690211_107690212delinsCA | CA1732748441 | SLC26A4 | c.1237_1238delinsCA (p.Gln413=) | |
| 7 | g.107690212del | CA16041108 | SLC26A4 | c.1238del (p.Gln413ArgfsTer19) c.1238del (p.Gln413ArgfsTer30) c.1238del (p.Gln413ArgfsTer16) | ClinVar dbSNP |
| 7 | g.107690212A= | CA1732748448 | SLC26A4 | c.1238A= (p.Gln413=) | |
| 7 | g.107690212A>C | CA368839287 | SLC26A4 | c.1238A>C (p.Gln413Pro) | |
| 7 | g.107690212A>G | CA4432728 | SLC26A4 | c.1238A>G (p.Gln413Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690212A>T | CA368839288 | SLC26A4 | c.1238A>T (p.Gln413Leu) | |
| 7 | g.107690213G>A | CA457090913 | SLC26A4 | c.1239G>A (p.Gln413=) | |
| 7 | g.107690213G>C | CA164211128 | SLC26A4 | c.1239G>C (p.Gln413His) | dbSNP gnomAD v4 |
| 7 | g.107690213G= | CA1732748453 | SLC26A4 | c.1239G= (p.Gln413=) | |
| 7 | g.107690213G>T | CA368839289 | SLC26A4 | c.1239G>T (p.Gln413His) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690214G>A | CA368839290 | SLC26A4 | c.1240G>A (p.Glu414Lys) | |
| 7 | g.107690214G>C | CA4432729 | SLC26A4 | c.1240G>C (p.Glu414Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690214G= | CA1732748457 | SLC26A4 | c.1240G= (p.Glu414=) | |
| 7 | g.107690214G>T | CA368839291 | SLC26A4 | c.1240G>T (p.Glu414Ter) | |
| 7 | g.107690214_107690217delinsAAAG | CA2695203124 | SLC26A4 | c.1240_1243delinsAAAG (p.Glu414_Ser415delinsLysGly) | |
| 7 | g.107690215A>C | CA368839294 | SLC26A4 | c.1241A>C (p.Glu414Ala) | COSMIC |
| 7 | g.107690215A>G | CA368839292 | SLC26A4 | c.1241A>G (p.Glu414Gly) |