| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240737160G>C | CA351313019 | KIF1A | c.3607C>G (p.Arg1203Gly) c.3910C>G (p.Arg1304Gly) c.679C>G (p.Arg227Gly) n.1072C>G c.3721C>G (p.Arg1241Gly) c.2845C>G (p.Arg949Gly) c.3883C>G (p.Arg1295Gly) c.3634C>G (p.Arg1212Gly) n.3765C>G n.2904C>G c.3709C>G (p.Arg1237Gly) n.2982C>G c.378C>G n.383C>G c.2905C>G (p.Arg969Gly) c.3985C>G (p.Arg1329Gly) c.3859C>G (p.Arg1287Gly) c.3682C>G (p.Arg1228Gly) c.3604C>G (p.Arg1202Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.240737160G>A | CA10584190 | KIF1A | c.3607C>T (p.Arg1203Ter) c.3910C>T (p.Arg1304Ter) c.679C>T (p.Arg227Ter) n.1072C>T c.3721C>T (p.Arg1241Ter) c.2845C>T (p.Arg949Ter) c.3883C>T (p.Arg1295Ter) c.3634C>T (p.Arg1212Ter) n.3765C>T n.2904C>T c.3709C>T (p.Arg1237Ter) n.2982C>T c.378C>T n.383C>T c.2905C>T (p.Arg969Ter) c.3985C>T (p.Arg1329Ter) c.3859C>T (p.Arg1287Ter) c.3682C>T (p.Arg1228Ter) c.3604C>T (p.Arg1202Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.240737160G= | CA1339261207 | KIF1A | c.3607C= (p.Arg1203=) c.3910C= (p.Arg1304=) c.679C= (p.Arg227=) n.1072C= c.3721C= (p.Arg1241=) c.2845C= (p.Arg949=) c.3883C= (p.Arg1295=) c.3634C= (p.Arg1212=) n.3765C= n.2904C= c.3709C= (p.Arg1237=) n.2982C= c.378C= n.383C= c.2905C= (p.Arg969=) c.3985C= (p.Arg1329=) c.3859C= (p.Arg1287=) c.3682C= (p.Arg1228=) c.3604C= (p.Arg1202=) | dbSNP |