| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.66638260C>A | CA130032 | KCTD7 | c.322C>A (p.Leu108Met) c.300C>A c.152C>A (p.Ala51Asp) c.147C>A c.126C>A c.192C>A | ClinVar dbSNP |
| 7 | g.66638260C= | CA1714178002 | KCTD7 | c.322C= (p.Leu108=) c.300C= c.152C= (p.Ala51=) c.147C= c.126C= c.192C= | dbSNP |
| 7 | g.66638260C>T | CA367696024 | KCTD7 | c.322C>T (p.Leu108=) c.300C>T c.152C>T (p.Ala51Val) c.147C>T c.126C>T c.192C>T | dbSNP gnomAD v4 |