| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2047750C>T | CA027945 | NTHL1,TSC2 | c.74G>A (p.Arg25Lys) c.29G>A (p.Arg10Lys) c.98G>A (p.Arg33Lys) c.-345C>T (n.-345C>T) c.37G>A c.45G>A n.98G>A c.-105G>A (n.-105G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2047750C>A | CA394298372 | NTHL1,TSC2 | c.74G>T (p.Arg25Met) c.29G>T (p.Arg10Met) c.98G>T (p.Arg33Met) c.-345C>A (n.-345C>A) c.37G>T c.45G>T n.98G>T c.-105G>T (n.-105G>T) | ClinVar dbSNP gnomAD v4 |