| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73641716A>G | CA267594 | SLC17A5 | c.500T>C (p.Leu167Pro) n.266T>C c.449T>C (p.Leu150Pro) c.302T>C (p.Leu101Pro) c.269T>C (p.Leu90Pro) c.521T>C (p.Leu174Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73641716A= | CA1638222966 | SLC17A5 | c.500T= (p.Leu167=) n.266T= c.449T= (p.Leu150=) c.302T= (p.Leu101=) c.269T= (p.Leu90=) c.521T= (p.Leu174=) | dbSNP |