| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136866718G>A | CA274350 | PEX7 | c.618G>A (p.Trp206Ter) c.306G>A c.504G>A (p.Trp168Ter) c.623G>A (n.623G>A) c.498G>A (p.Trp166Ter) c.340-3172G>A (n.340-3172G>A) c.526+20537G>A (n.526+20537G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136866718G>C | CA365763158 | PEX7 | c.618G>C (p.Trp206Cys) c.306G>C c.504G>C (p.Trp168Cys) c.623G>C (n.623G>C) c.498G>C (p.Trp166Cys) c.340-3172G>C (n.340-3172G>C) c.526+20537G>C (n.526+20537G>C) | dbSNP gnomAD v4 |
| 6 | g.136866718G>T | CA365763160 | PEX7 | c.618G>T (p.Trp206Cys) c.306G>T c.504G>T (p.Trp168Cys) c.623G>T (n.623G>T) c.498G>T (p.Trp166Cys) c.340-3172G>T (n.340-3172G>T) c.526+20537G>T (n.526+20537G>T) | ClinVar dbSNP |
| 6 | g.136866718G= | CA3134712012 | PEX7 | c.618G= (p.Trp206=) c.306G= c.504G= (p.Trp168=) c.623G= (n.623G=) c.498G= (p.Trp166=) c.340-3172G= (n.340-3172G=) c.526+20537G= (n.526+20537G=) | dbSNP |