| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214948607C>A | CA350794126 | ABCA12,SNHG31 | c.7093G>T (p.Asp2365Tyr) c.6139G>T (p.Asp2047Tyr) n.7393G>T n.444+660C>A c.7102G>T (p.Asp2368Tyr) n.7591G>T | dbSNP |
| 2 | g.214948607C>T | CA252481 | ABCA12,SNHG31 | c.7093G>A (p.Asp2365Asn) c.6139G>A (p.Asp2047Asn) n.7393G>A n.444+660C>T c.7102G>A (p.Asp2368Asn) n.7591G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |