| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980428C>T | CA252990 | SLC26A2 | c.835C>T (p.Arg279Trp) c.372+2077C>T (n.372+2077C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980428C>A | CA447402178 | SLC26A2 | c.835C>A (p.Arg279=) c.372+2077C>A (n.372+2077C>A) | ClinVar dbSNP |
| 5 | g.149980428C= | CA1139771935 | SLC26A2 | c.835C= (p.Arg279=) c.372+2077C= (n.372+2077C=) | dbSNP |