| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73621883G>A | CA236266 | SLC17A5 | c.899C>T (p.Ser300Phe) c.848C>T (p.Ser283Phe) c.701C>T (p.Ser234Phe) c.668C>T (p.Ser223Phe) c.920C>T (p.Ser307Phe) c.812C>T (p.Ser271Phe) c.820-6436C>T (n.820-6436C>T) c.896C>T (p.Ser299Phe) c.581C>T (p.Ser194Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621883G>C | CA364713527 | SLC17A5 | c.899C>G (p.Ser300Cys) c.848C>G (p.Ser283Cys) c.701C>G (p.Ser234Cys) c.668C>G (p.Ser223Cys) c.920C>G (p.Ser307Cys) c.812C>G (p.Ser271Cys) c.820-6436C>G (n.820-6436C>G) c.896C>G (p.Ser299Cys) c.581C>G (p.Ser194Cys) | dbSNP |