Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107672245G>A | CA164214939 | SLC26A4 | c.412G>A (p.Val138Ile) | dbSNP gnomAD v4 |
7 | g.107672245G>T | CA253312 | SLC26A4 | c.412G>T (p.Val138Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107672245G>C | CA368847338 | SLC26A4 | c.412G>C (p.Val138Leu) | ClinVar dbSNP gnomAD v4 |