| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149978055C>A | CA263263 | SLC26A2 | n.635C>A c.403C>A (p.Gln135Lys) c.76C>A (p.Gln26Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149978055C= | CA1590737384 | SLC26A2 | n.635C= c.403C= (p.Gln135=) c.76C= (p.Gln26=) | dbSNP |
| 5 | g.149978055C>T | CA361704915 | SLC26A2 | n.635C>T c.403C>T (p.Gln135Ter) c.76C>T (p.Gln26Ter) | dbSNP gnomAD v4 |