| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19196584T>C | CA10097905 | CLTCL1 | c.3946A>G (p.Met1316Val) n.690A>G n.3966A>G c.*101A>G (n.*101A>G) c.415A>G (p.Met139Val) c.4009A>G (p.Met1337Val) c.3895A>G (p.Met1299Val) c.3736A>G (p.Met1246Val) c.2137A>G (p.Met713Val) n.3952A>G n.3934A>G c.3832A>G (p.Met1278Val) c.3730A>G (p.Met1244Val) n.4019A>G n.3957A>G n.3865A>G n.3861A>G n.186T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19196584T>A | CA410658075 | CLTCL1 | c.3946A>T (p.Met1316Leu) n.690A>T n.3966A>T c.*101A>T (n.*101A>T) c.415A>T (p.Met139Leu) c.4009A>T (p.Met1337Leu) c.3895A>T (p.Met1299Leu) c.3736A>T (p.Met1246Leu) c.2137A>T (p.Met713Leu) n.3952A>T n.3934A>T c.3832A>T (p.Met1278Leu) c.3730A>T (p.Met1244Leu) n.4019A>T n.3957A>T n.3865A>T n.3861A>T n.186T>A | dbSNP |