| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149981128C>A | CA116649 | SLC26A2 | c.1535C>A (p.Thr512Lys) c.372+2777C>A (n.372+2777C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981128C>T | CA361708077 | SLC26A2 | c.1535C>T (p.Thr512Ile) c.372+2777C>T (n.372+2777C>T) | dbSNP gnomAD v4 |
| 5 | g.149981128C= | CA1590738650 | SLC26A2 | c.1535C= (p.Thr512=) c.372+2777C= (n.372+2777C=) | dbSNP |