| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107710132A>G | CA253307 | SLC26A4 | c.2168A>G (p.His723Arg) c.824A>G n.377-23A>G c.2090A>G (p.His697Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107710132A= | CA1732751341 | SLC26A4 | c.2168A= (p.His723=) c.824A= n.377-23A= c.2090A= (p.His697=) | dbSNP |
| 7 | g.107710132A>C | CA368845873 | SLC26A4 | c.2168A>C (p.His723Pro) c.824A>C n.377-23A>C c.2090A>C (p.His697Pro) | dbSNP gnomAD v4 |
| 7 | g.107710132A>T | CA368845876 | SLC26A4 | c.2168A>T (p.His723Leu) c.824A>T n.377-23A>T c.2090A>T (p.His697Leu) | dbSNP gnomAD v4 |