| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.66638912C>T | CA129977 | KCTD7 | c.510C>T (p.Pro170=) c.488C>T c.380C>T (p.Pro127Leu) c.375C>T c.354C>T c.550C>T (p.Arg184Cys) c.*413C>T (n.*413C>T) c.420C>T c.57C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.66638912C>A | CA367696741 | KCTD7 | c.510C>A (p.Pro170=) c.488C>A c.380C>A (p.Pro127Gln) c.375C>A c.354C>A c.550C>A (p.Arg184Ser) c.*413C>A (n.*413C>A) c.420C>A c.57C>A | dbSNP gnomAD v4 |
| 7 | g.66638912C= | CA1714178793 | KCTD7 | c.510C= (p.Pro170=) c.488C= c.380C= (p.Pro127=) c.375C= c.354C= c.550C= (p.Arg184=) c.*413C= (n.*413C=) c.420C= c.57C= | dbSNP |