| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.49061477T>C | CA204846 | NTF4 | c.521A>G (p.Gln174Arg) c.243+278A>G (n.243+278A>G) c.551A>G (p.Gln184Arg) n.566A>G | ClinVar dbSNP |
| 19 | g.49061477T= | CA2340217288 | NTF4 | c.521A= (p.Gln174=) c.243+278A= (n.243+278A=) c.551A= (p.Gln184=) n.566A= | dbSNP |
| 19 | g.49061477T>G | CA406805196 | NTF4 | c.521A>C (p.Gln174Pro) c.243+278A>C (n.243+278A>C) c.551A>C (p.Gln184Pro) n.566A>C | dbSNP gnomAD v4 |