| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.120638471C>A | CA277916 | HGD | c.990G>T (p.Arg330Ser) n.330G>T c.307+3118G>T c.285+3118G>T (n.285+3118G>T) c.410G>T c.765G>T (p.Arg255Ser) c.879+3118G>T (n.879+3118G>T) c.567G>T (p.Arg189Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.120638471C>T | CA81781542 | HGD | c.990G>A (p.Arg330=) n.330G>A c.307+3118G>A c.285+3118G>A (n.285+3118G>A) c.410G>A c.765G>A (p.Arg255=) c.879+3118G>A (n.879+3118G>A) c.567G>A (p.Arg189=) | dbSNP gnomAD v4 COSMIC |
| 3 | g.120638471C>G | CA354073338 | HGD | c.990G>C (p.Arg330Ser) n.330G>C c.307+3118G>C c.285+3118G>C (n.285+3118G>C) c.410G>C c.765G>C (p.Arg255Ser) c.879+3118G>C (n.879+3118G>C) c.567G>C (p.Arg189Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |