| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108677633G>C | CA258963 | COL4A5 | c.3942G>C (p.Gln1314His) c.3924G>C (p.Gln1308His) n.436G>C n.345G>C c.3933G>C (p.Gln1311His) c.3618G>C (p.Gln1206His) c.1515G>C (p.Gln505His) c.3957G>C (p.Gln1319His) c.3948G>C (p.Gln1316His) c.3939G>C (p.Gln1313His) c.2277G>C (p.Gln759His) | dbSNP |
| X | g.108677633G>A | CA517923573 | COL4A5 | c.3942G>A (p.Gln1314=) c.3924G>A (p.Gln1308=) n.436G>A n.345G>A c.3933G>A (p.Gln1311=) c.3618G>A (p.Gln1206=) c.1515G>A (p.Gln505=) c.3957G>A (p.Gln1319=) c.3948G>A (p.Gln1316=) c.3939G>A (p.Gln1313=) c.2277G>A (p.Gln759=) | ClinVar dbSNP |