| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.17872596G>C | CA118969 | SLC5A5 | c.277G>C (p.Gly93Arg) c.10G>C (p.Gly4Arg) | ClinVar dbSNP |
| 19 | g.17872596G>A | CA306173780 | SLC5A5 | c.277G>A (p.Gly93Ser) c.10G>A (p.Gly4Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.17872596G= | CA2326072778 | SLC5A5 | c.277G= (p.Gly93=) c.10G= (p.Gly4=) | dbSNP |