| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.66638993C>A | CA456057353 | KCTD7 | c.591C>A (p.Cys197Ter) c.505+64C>A c.397+64C>A (n.397+64C>A) c.456C>A c.435C>A c.631C>A (p.Arg211=) c.*494C>A (n.*494C>A) c.437+64C>A c.138C>A c.567+64C>A (n.567+64C>A) | dbSNP gnomAD v4 |
| 7 | g.66638993C>T | CA4278309 | KCTD7 | c.591C>T (p.Cys197=) c.505+64C>T c.397+64C>T (n.397+64C>T) c.456C>T c.435C>T c.631C>T (p.Arg211Ter) c.*494C>T (n.*494C>T) c.437+64C>T c.138C>T c.567+64C>T (n.567+64C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66638993C= | CA1714178915 | KCTD7 | c.591C= (p.Cys197=) c.505+64C= c.397+64C= (n.397+64C=) c.456C= c.435C= c.631C= (p.Arg211=) c.*494C= (n.*494C=) c.437+64C= c.138C= c.567+64C= (n.567+64C=) | dbSNP |