| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.26912036C>A | CA117537 | NR0B2,NUDC | c.583G>T (p.Ala195Ser) c.93+801C>A (n.93+801C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.26912036C>G | CA339188463 | NR0B2,NUDC | c.583G>C (p.Ala195Pro) c.93+801C>G (n.93+801C>G) | dbSNP |
| 1 | g.26912036C= | CA1140886400 | NR0B2,NUDC | c.583G= (p.Ala195=) c.93+801C= (n.93+801C=) | dbSNP |