| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.26913841G>A | CA117535 | NR0B2,NUDC | c.100C>T (p.Arg34Ter) c.93+2606G>A (n.93+2606G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.26913841G>C | CA709734 | NR0B2,NUDC | c.100C>G (p.Arg34Gly) c.93+2606G>C (n.93+2606G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |