| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.49061735G>A | CA123705 | NTF4 | c.263C>T (p.Ala88Val) c.243+20C>T (n.243+20C>T) c.293C>T (p.Ala98Val) n.308C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.49061735G= | CA2340217411 | NTF4 | c.263C= (p.Ala88=) c.243+20C= (n.243+20C=) c.293C= (p.Ala98=) n.308C= | dbSNP |