| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.6610192C>A | CA4981074 | GLDC | c.635G>T (p.Arg212Ile) n.335G>T c.341G>T (p.Arg114Ile) n.343G>T n.518G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.6610192C>T | CA263464 | GLDC | c.635G>A (p.Arg212Lys) n.335G>A c.341G>A (p.Arg114Lys) n.343G>A n.518G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.6610192C= | CA1830516470 | GLDC | c.635G= (p.Arg212=) n.335G= c.341G= (p.Arg114=) n.343G= n.518G= | dbSNP |
| 9 | g.6610192C>G | CA372898097 | GLDC | c.635G>C (p.Arg212Thr) n.335G>C c.341G>C (p.Arg114Thr) n.343G>C n.518G>C | dbSNP |