| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.66639180A>G | CA367697658 | KCTD7 | c.*1A>G (n.*1A>G) c.505+251A>G c.397+251A>G (n.397+251A>G) c.643A>G c.622A>G c.818A>G (p.Asn273Ser) c.*681A>G (n.*681A>G) c.437+251A>G c.325A>G c.620A>G (p.Asn207Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66639180A>T | CA130029 | KCTD7 | c.*1A>T (n.*1A>T) c.505+251A>T c.397+251A>T (n.397+251A>T) c.643A>T c.622A>T c.818A>T (p.Asn273Ile) c.*681A>T (n.*681A>T) c.437+251A>T c.325A>T c.620A>T (p.Asn207Ile) | ClinVar dbSNP |