| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.66633425C>T | CA114572 | KCTD7 | c.295C>T (p.Arg99Ter) c.273C>T c.144+4217C>T (n.144+4217C>T) c.139+4217C>T c.118+4217C>T c.165C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66633425C>A | CA4278218 | KCTD7 | c.295C>A (p.Arg99=) c.273C>A c.144+4217C>A (n.144+4217C>A) c.139+4217C>A c.118+4217C>A c.165C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |