| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240723538G>A | CA16043890 | KIF1A | c.4060C>T (p.Arg1354Ter) c.4363C>T (p.Arg1455Ter) c.1159C>T (p.Arg387Ter) n.2922C>T c.4339C>T (p.Arg1447Ter) c.4063C>T (p.Arg1355Ter) c.4150C>T (p.Arg1384Ter) c.3298C>T (p.Arg1100Ter) c.4312C>T (p.Arg1438Ter) c.4090C>T (p.Arg1364Ter) c.4036C>T (p.Arg1346Ter) n.3333C>T c.4138C>T (p.Arg1380Ter) n.3411C>T n.111C>T c.834C>T n.896C>T n.811C>T c.4366C>T (p.Arg1456Ter) c.3361C>T (p.Arg1121Ter) c.4414C>T (p.Arg1472Ter) c.4315C>T (p.Arg1439Ter) c.4165C>T (p.Arg1389Ter) c.4162C>T (p.Arg1388Ter) c.4111C>T (p.Arg1371Ter) c.4087C>T (p.Arg1363Ter) c.4033C>T (p.Arg1345Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.240723538G>C | CA351305634 | KIF1A | c.4060C>G (p.Arg1354Gly) c.4363C>G (p.Arg1455Gly) c.1159C>G (p.Arg387Gly) n.2922C>G c.4339C>G (p.Arg1447Gly) c.4063C>G (p.Arg1355Gly) c.4150C>G (p.Arg1384Gly) c.3298C>G (p.Arg1100Gly) c.4312C>G (p.Arg1438Gly) c.4090C>G (p.Arg1364Gly) c.4036C>G (p.Arg1346Gly) n.3333C>G c.4138C>G (p.Arg1380Gly) n.3411C>G n.111C>G c.834C>G n.896C>G n.811C>G c.4366C>G (p.Arg1456Gly) c.3361C>G (p.Arg1121Gly) c.4414C>G (p.Arg1472Gly) c.4315C>G (p.Arg1439Gly) c.4165C>G (p.Arg1389Gly) c.4162C>G (p.Arg1388Gly) c.4111C>G (p.Arg1371Gly) c.4087C>G (p.Arg1363Gly) c.4033C>G (p.Arg1345Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.240723538G= | CA1339257285 | KIF1A | c.4060C= (p.Arg1354=) c.4363C= (p.Arg1455=) c.1159C= (p.Arg387=) n.2922C= c.4339C= (p.Arg1447=) c.4063C= (p.Arg1355=) c.4150C= (p.Arg1384=) c.3298C= (p.Arg1100=) c.4312C= (p.Arg1438=) c.4090C= (p.Arg1364=) c.4036C= (p.Arg1346=) n.3333C= c.4138C= (p.Arg1380=) n.3411C= n.111C= c.834C= n.896C= n.811C= c.4366C= (p.Arg1456=) c.3361C= (p.Arg1121=) c.4414C= (p.Arg1472=) c.4315C= (p.Arg1439=) c.4165C= (p.Arg1389=) c.4162C= (p.Arg1388=) c.4111C= (p.Arg1371=) c.4087C= (p.Arg1363=) c.4033C= (p.Arg1345=) | dbSNP |