| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155133751A>T | CA1138097 | EFNA1 | c.476A>T (p.Asp159Val) c.410A>T (p.Asp137Val) n.727A>T n.701A>T n.519A>T c.287A>T (p.Asp96Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155133751A= | CA1139772869 | EFNA1 | c.476A= (p.Asp159=) c.410A= (p.Asp137=) n.727A= n.701A= n.519A= c.287A= (p.Asp96=) | dbSNP |