| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149977837C>G | CA16040984 | SLC26A2 | n.417C>G c.185C>G (p.Ser62Ter) | ClinVar dbSNP |
| 5 | g.149977837C>T | CA361704291 | SLC26A2 | n.417C>T c.185C>T (p.Ser62Leu) | dbSNP gnomAD v4 |
| 5 | g.149977837C= | CA1590737306 | SLC26A2 | n.417C= c.185C= (p.Ser62=) | dbSNP |