| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149981550T>A | CA252996 | SLC26A2 | c.1957T>A (p.Cys653Ser) c.372+3199T>A (n.372+3199T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981550T>C | CA361709506 | SLC26A2 | c.1957T>C (p.Cys653Arg) c.372+3199T>C (n.372+3199T>C) | dbSNP gnomAD v4 |
| 5 | g.149981550T>G | CA361709507 | SLC26A2 | c.1957T>G (p.Cys653Gly) c.372+3199T>G (n.372+3199T>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981550T= | CA1590738824 | SLC26A2 | c.1957T= (p.Cys653=) c.372+3199T= (n.372+3199T=) | dbSNP |