Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.7001615A>C | CA397747779 | ALOX12,ALOX12-AS1 | c.965A>C (p.Asn322Thr) n.233+8181T>G c.1115A>C (p.Asn372Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.7001615A>G | CA8333381 | ALOX12,ALOX12-AS1 | c.965A>G (p.Asn322Ser) n.233+8181T>C c.1115A>G (p.Asn372Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |