| 2 | g.214997733T>C | CA2091771 | ABCA12 | c.3256A>G (p.Lys1086Glu)
c.2302A>G (p.Lys768Glu)
n.3556A>G
n.3754A>G
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.214997733T>A | CA10588333 | ABCA12 | c.3256A>T (p.Lys1086Ter)
c.2302A>T (p.Lys768Ter)
n.3556A>T
n.3754A>T
| ClinVar dbSNP |
