| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73641709del | CA263927 | SLC17A5 | c.507del (p.Leu170Ter) n.273del c.456del (p.Leu153Ter) c.309del (p.Leu104Ter) c.276del (p.Leu93Ter) c.528del (p.Leu177Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73641709T= | CA1638222953 | SLC17A5 | c.507A= (p.Ala169=) n.273A= c.456A= (p.Ala152=) c.309A= (p.Ala103=) c.276A= (p.Ala92=) c.528A= (p.Ala176=) | dbSNP dbSNP |