| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.148996406C>T | CA117880 | GYG1 | c.248C>T (p.Thr83Met) n.141C>T c.110C>T (p.Thr37Met) n.349C>T c.71C>T (p.Thr24Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148996406C>G | CA2658497 | GYG1 | c.248C>G (p.Thr83Arg) n.141C>G c.110C>G (p.Thr37Arg) n.349C>G c.71C>G (p.Thr24Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.148996406C>A | CA354911560 | GYG1 | c.248C>A (p.Thr83Lys) n.141C>A c.110C>A (p.Thr37Lys) n.349C>A c.71C>A (p.Thr24Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |