| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.55453077G>A | CA356922803 | CLOCK,TMEM165 | c.1183C>T (p.Leu395Phe) c.1247G>A c.*771G>A (n.*771G>A) c.1006C>T (p.Leu336Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.55453077G>T | CA2926017 | CLOCK,TMEM165 | c.1183C>A (p.Leu395Ile) c.1247G>T c.*771G>T (n.*771G>T) c.1006C>A (p.Leu336Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.55453077G= | CA1459084376 | CLOCK,TMEM165 | c.1183C= (p.Leu395=) c.1247G= c.*771G= (n.*771G=) c.1006C= (p.Leu336=) | dbSNP |