| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.110179387C>T | CA388668752 | COL4A1 | c.2228G>A (p.Gly743Asp) n.2358G>A c.2036G>A (p.Gly679Asp) | dbSNP |
| 13 | g.110179387C>A | CA16606631 | COL4A1 | c.2228G>T (p.Gly743Val) n.2358G>T c.2036G>T (p.Gly679Val) | ClinVar dbSNP |