| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.77327940T>A | CA390507991 | GSTZ1 | c.245T>A (p.Met82Lys) c.216+388T>A (n.216+388T>A) c.80T>A (p.Met27Lys) n.376T>A c.248T>A (p.Met83Lys) n.774T>A c.203T>A (p.Met68Lys) n.4653T>A c.164T>A (p.Met55Lys) c.51+388T>A (n.51+388T>A) c.128T>A (p.Met43Lys) c.219+388T>A (n.219+388T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.77327940T>C | CA7286501 | GSTZ1 | c.245T>C (p.Met82Thr) c.216+388T>C (n.216+388T>C) c.80T>C (p.Met27Thr) n.376T>C c.248T>C (p.Met83Thr) n.774T>C c.203T>C (p.Met68Thr) n.4653T>C c.164T>C (p.Met55Thr) c.51+388T>C (n.51+388T>C) c.128T>C (p.Met43Thr) c.219+388T>C (n.219+388T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.77327940T= | CA1630856125 | GSTZ1 | c.245T= (p.Met82=) c.216+388T= (n.216+388T=) c.80T= (p.Met27=) n.376T= c.248T= (p.Met83=) n.774T= c.203T= (p.Met68=) n.4653T= c.164T= (p.Met55=) c.51+388T= (n.51+388T=) c.128T= (p.Met43=) c.219+388T= (n.219+388T=) | dbSNP |