| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.36012301C>G | CA363792282 | SLC26A8 | c.260G>C (p.Arg87Pro) c.473G>C c.518G>C (p.Arg173Pro) n.615G>C n.370G>C | dbSNP |
| 6 | g.36012301C>T | CA143847 | SLC26A8 | c.260G>A (p.Arg87Gln) c.473G>A c.518G>A (p.Arg173Gln) n.615G>A n.370G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |