| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10297206A>T | CA116987 | KIF1B | c.*1109A>T (n.*1109A>T) c.1937A>T (p.Glu646Val) c.2000A>T (p.Glu667Val) c.2075A>T (p.Glu692Val) c.2033A>T (p.Glu678Val) c.1997A>T (p.Glu666Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10297206A= | CA1141580569 | KIF1B | c.*1109A= (n.*1109A=) c.1937A= (p.Glu646=) c.2000A= (p.Glu667=) c.2075A= (p.Glu692=) c.2033A= (p.Glu678=) c.1997A= (p.Glu666=) | dbSNP |