Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.105419192A>C | CA372025623 | ZFPM2 | c.89A>C (p.Glu30Ala) n.829A>C n.528A>C c.-308A>C (n.-308A>C) n.49A>C n.302A>C c.128A>C (p.Glu43Ala) c.59A>C (p.Glu20Ala) c.41-25088A>C (n.41-25088A>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.105419192A>G | CA130351 | ZFPM2 | c.89A>G (p.Glu30Gly) n.829A>G n.528A>G c.-308A>G (n.-308A>G) n.49A>G n.302A>G c.128A>G (p.Glu43Gly) c.59A>G (p.Glu20Gly) c.41-25088A>G (n.41-25088A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |