| 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 |