Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.114731326C>G | CA334653879 | HTR2C | c.68C>G (p.Ser23Cys) n.209-550G>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.114731326C>T | CA658683024 | HTR2C | c.68C>T (p.Ser23Phe) n.209-550G>A | dbSNP gnomAD v4 |
X | g.114731326C= | CA120801 | HTR2C | c.68C= (p.Ser23=) n.209-550G= | ClinVar dbSNP |