| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.8813090G>C | CA220624 | PMM2 | n.3791G>C c.623G>C (p.Gly208Ala) c.*241G>C (n.*241G>C) c.*245G>C (n.*245G>C) c.*163G>C (n.*163G>C) c.*519G>C (n.*519G>C) c.*345G>C (n.*345G>C) c.542G>C (p.Gly181Ala) c.350G>C (p.Gly117Ala) c.*81G>C (n.*81G>C) c.374G>C (p.Gly125Ala) c.248G>C (p.Gly83Ala) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.8813090G>T | CA394698064 | PMM2 | n.3791G>T c.623G>T (p.Gly208Val) c.*241G>T (n.*241G>T) c.*245G>T (n.*245G>T) c.*163G>T (n.*163G>T) c.*519G>T (n.*519G>T) c.*345G>T (n.*345G>T) c.542G>T (p.Gly181Val) c.350G>T (p.Gly117Val) c.*81G>T (n.*81G>T) c.374G>T (p.Gly125Val) c.248G>T (p.Gly83Val) | dbSNP gnomAD v4 |
| 16 | g.8813090G>A | CA7894149 | PMM2 | n.3791G>A c.623G>A (p.Gly208Glu) c.*241G>A (n.*241G>A) c.*245G>A (n.*245G>A) c.*163G>A (n.*163G>A) c.*519G>A (n.*519G>A) c.*345G>A (n.*345G>A) c.542G>A (p.Gly181Glu) c.350G>A (p.Gly117Glu) c.*81G>A (n.*81G>A) c.374G>A (p.Gly125Glu) c.248G>A (p.Gly83Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |