| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.57569015A>G | CA118520 | KIF5A | c.767A>G (p.Asn256Ser) c.662A>G (p.Asn221Ser) c.500A>G (p.Asn167Ser) n.1000A>G | ClinVar dbSNP |
| 12 | g.57569015A= | CA2038924997 | KIF5A | c.767A= (p.Asn256=) c.662A= (p.Asn221=) c.500A= (p.Asn167=) n.1000A= | dbSNP |