| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.80673392A>C | CA123192 | CD36 | c.1237A>C (p.Ile413Leu) c.1120A>C (p.Ile374Leu) n.2530A>C c.17A>C c.1009A>C (p.Ile337Leu) c.1057A>C (p.Ile353Leu) c.*182A>C (n.*182A>C) n.1228A>C c.1135A>C (p.Ile379Leu) c.772A>C (p.Ile258Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.80673392A>G | CA367858262 | CD36 | c.1237A>G (p.Ile413Val) c.1120A>G (p.Ile374Val) n.2530A>G c.17A>G c.1009A>G (p.Ile337Val) c.1057A>G (p.Ile353Val) c.*182A>G (n.*182A>G) n.1228A>G c.1135A>G (p.Ile379Val) c.772A>G (p.Ile258Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |