Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.70029527C>T | CA261503 | EDA | c.730C>T (p.Arg244Ter) c.334C>T (p.Arg112Ter) | ClinVar dbSNP |
X | g.70029527C= | CA2435980096 | EDA | c.730C= (p.Arg244=) c.334C= (p.Arg112=) | dbSNP |
X | g.70029527C>G | CA413448597 | EDA | c.730C>G (p.Arg244Gly) c.334C>G (p.Arg112Gly) | dbSNP gnomAD v4 |