| 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 |
| 7 | g.66633425C= | CA1714174513 | KCTD7 | c.295C= (p.Arg99=) c.273C= c.144+4217C= (n.144+4217C=) c.139+4217C= c.118+4217C= c.165C= | dbSNP |
| 7 | g.66633425C>G | CA367695742 | KCTD7 | c.295C>G (p.Arg99Gly) c.273C>G c.144+4217C>G (n.144+4217C>G) c.139+4217C>G c.118+4217C>G c.165C>G | dbSNP gnomAD v4 |