| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7285729G>A | CA018561 | SLC2A4 | c.1147G>A (p.Val383Ile) c.1117G>A (p.Val373Ile) c.*371G>A (n.*371G>A) c.1208G>A (p.Arg403His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7285729G>C | CA8341003 | SLC2A4 | c.1147G>C (p.Val383Leu) c.1117G>C (p.Val373Leu) c.*371G>C (n.*371G>C) c.1208G>C (p.Arg403Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |