| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107674283_107674294dup | CA1732746109 | SLC26A4 | c.535_546dup (p.Asp182_Thr183insAlaAlaArgAsp) | dbSNP gnomAD v4 |
| 7 | g.107674283G>A | CA4432504 | SLC26A4 | c.535G>A (p.Ala179Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674283G>C | CA368848221 | SLC26A4 | c.535G>C (p.Ala179Pro) | |
| 7 | g.107674283G= | CA1732746112 | SLC26A4 | c.535G= (p.Ala179=) | |
| 7 | g.107674283G>T | CA368848222 | SLC26A4 | c.535G>T (p.Ala179Ser) | dbSNP gnomAD v4 |
| 7 | g.107674284C>A | CA368848224 | SLC26A4 | c.536C>A (p.Ala179Glu) | gnomAD v4 |
| 7 | g.107674284C= | CA1732746120 | SLC26A4 | c.536C= (p.Ala179=) | |
| 7 | g.107674284C>G | CA368848226 | SLC26A4 | c.536C>G (p.Ala179Gly) | |
| 7 | g.107674284C>T | CA368848223 | SLC26A4 | c.536C>T (p.Ala179Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674284_107674285delinsCA | CA1732746118 | SLC26A4 | c.536_537delinsCA (p.Ala179=) | |
| 7 | g.107674284_107674286delinsCAG | CA1732746119 | SLC26A4 | c.536_538delinsCAG (p.Ala179=) | |
| 7 | g.107674285del | CA831175392 | SLC26A4 | c.537del (p.Ala180LeufsTer8) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674285A= | CA1732746124 | SLC26A4 | c.537A= (p.Ala179=) | |
| 7 | g.107674285A>C | CA457105410 | SLC26A4 | c.537A>C (p.Ala179=) | |
| 7 | g.107674285A>G | CA457105411 | SLC26A4 | c.537A>G (p.Ala179=) | gnomAD v4 |
| 7 | g.107674285A>T | CA457105412 | SLC26A4 | c.537A>T (p.Ala179=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674285_107674286delinsC | CA915945412 | SLC26A4 | c.537_538delinsC (p.Ala180LeufsTer8) | ClinVar dbSNP |
| 7 | g.107674286G>A | CA368848228 | SLC26A4 | c.538G>A (p.Ala180Thr) | |
| 7 | g.107674286G>C | CA368848230 | SLC26A4 | c.538G>C (p.Ala180Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674286G= | CA1732746128 | SLC26A4 | c.538G= (p.Ala180=) | |
| 7 | g.107674286G>T | CA368848231 | SLC26A4 | c.538G>T (p.Ala180Ser) | |
| 7 | g.107674287C>A | CA368848232 | SLC26A4 | c.539C>A (p.Ala180Asp) | dbSNP |
| 7 | g.107674287C= | CA1732746131 | SLC26A4 | c.539C= (p.Ala180=) | |
| 7 | g.107674287C>G | CA368848233 | SLC26A4 | c.539C>G (p.Ala180Gly) | |
| 7 | g.107674287C>T | CA368848235 | SLC26A4 | c.539C>T (p.Ala180Val) | |
| 7 | g.107674288T>A | CA457105413 | SLC26A4 | c.540T>A (p.Ala180=) | gnomAD v4 |
| 7 | g.107674288T>C | CA457105415 | SLC26A4 | c.540T>C (p.Ala180=) | gnomAD v4 |
| 7 | g.107674288T>G | CA457105414 | SLC26A4 | c.540T>G (p.Ala180=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107674288T= | CA1732746134 | SLC26A4 | c.540T= (p.Ala180=) | |
| 7 | g.107674289A= | CA1732746138 | SLC26A4 | c.541A= (p.Arg181=) | |
| 7 | g.107674289A>C | CA457105416 | SLC26A4 | c.541A>C (p.Arg181=) | |
| 7 | g.107674289A>G | CA368848236 | SLC26A4 | c.541A>G (p.Arg181Gly) | dbSNP |
| 7 | g.107674289A>T | CA368848238 | SLC26A4 | c.541A>T (p.Arg181Ter) | |
| 7 | g.107674290G>A | CA368848240 | SLC26A4 | c.542G>A (p.Arg181Lys) | dbSNP |
| 7 | g.107674290G>C | CA368848241 | SLC26A4 | c.542G>C (p.Arg181Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674290G= | CA1732746142 | SLC26A4 | c.542G= (p.Arg181=) | |
| 7 | g.107674290G>T | CA368848242 | SLC26A4 | c.542G>T (p.Arg181Ile) | gnomAD v4 |
| 7 | g.107674291A= | CA1732746146 | SLC26A4 | c.543A= (p.Arg181=) | |
| 7 | g.107674291A>C | CA368848244 | SLC26A4 | c.543A>C (p.Arg181Ser) | |
| 7 | g.107674291A>G | CA457105417 | SLC26A4 | c.543A>G (p.Arg181=) | |
| 7 | g.107674291A>T | CA164216363 | SLC26A4 | c.543A>T (p.Arg181Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674292G>A | CA368848256 | SLC26A4 | c.544G>A (p.Asp182Asn) | |
| 7 | g.107674292G>C | CA164216364 | SLC26A4 | c.544G>C (p.Asp182His) | dbSNP gnomAD v4 |
| 7 | g.107674292G= | CA1732746150 | SLC26A4 | c.544G= (p.Asp182=) | |
| 7 | g.107674292G>T | CA368848253 | SLC26A4 | c.544G>T (p.Asp182Tyr) | |
| 7 | g.107674293A= | CA1732746159 | SLC26A4 | c.545A= (p.Asp182=) | |
| 7 | g.107674293A>C | CA368848258 | SLC26A4 | c.545A>C (p.Asp182Ala) | |
| 7 | g.107674293A>G | CA368848259 | SLC26A4 | c.545A>G (p.Asp182Gly) | |
| 7 | g.107674293A>T | CA132730 | SLC26A4 | c.545A>T (p.Asp182Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674294T>A | CA368848262 | SLC26A4 | c.546T>A (p.Asp182Glu) |