| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107661726G>C | CA253315 | SLC26A4,SLC26A4-AS1 | c.85G>C (p.Glu29Gln) n.73C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107661726G>T | CA261442 | SLC26A4,SLC26A4-AS1 | c.85G>T (p.Glu29Ter) n.73C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107661726G= | CA1732727208 | SLC26A4,SLC26A4-AS1 | c.85G= (p.Glu29=) n.73C= | dbSNP |