| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108680956G>T | CA334054834 | COL4A5 | c.4087G>T (p.Gly1363Cys) c.4069G>T (p.Gly1357Cys) n.581G>T n.490G>T c.4078G>T (p.Gly1360Cys) c.3763G>T (p.Gly1255Cys) c.1660G>T (p.Gly554Cys) c.4102G>T (p.Gly1368Cys) c.4093G>T (p.Gly1365Cys) c.4084G>T (p.Gly1362Cys) c.2422G>T (p.Gly808Cys) | dbSNP |
| X | g.108680956G>A | CA258981 | COL4A5 | c.4087G>A (p.Gly1363Ser) c.4069G>A (p.Gly1357Ser) n.581G>A n.490G>A c.4078G>A (p.Gly1360Ser) c.3763G>A (p.Gly1255Ser) c.1660G>A (p.Gly554Ser) c.4102G>A (p.Gly1368Ser) c.4093G>A (p.Gly1365Ser) c.4084G>A (p.Gly1362Ser) c.2422G>A (p.Gly808Ser) | dbSNP gnomAD v3 gnomAD v4 |