Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.55443825A>C | CA356915959 | CLOCK,TMEM165 | c.1764T>G (p.Asn588Lys) c.353-8414A>C n.346T>G c.409-8414A>C c.899-8414A>C (n.899-8414A>C) c.1587T>G (p.Asn529Lys) | dbSNP gnomAD v4 |
4 | g.55443825A>G | CA2925818 | CLOCK,TMEM165 | c.1764T>C (p.Asn588=) c.353-8414A>G n.346T>C c.409-8414A>G c.899-8414A>G (n.899-8414A>G) c.1587T>C (p.Asn529=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |