| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.49061381C>T | CA123709 | NTF4 | c.617G>A (p.Arg206Gln) c.243+374G>A (n.243+374G>A) c.647G>A (p.Arg216Gln) n.662G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.49061381C>A | CA406804723 | NTF4 | c.617G>T (p.Arg206Leu) c.243+374G>T (n.243+374G>T) c.647G>T (p.Arg216Leu) n.662G>T | dbSNP gnomAD v4 |
| 19 | g.49061381C= | CA2340217242 | NTF4 | c.617G= (p.Arg206=) c.243+374G= (n.243+374G=) c.647G= (p.Arg216=) n.662G= | dbSNP |