| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108686111G>C | CA334058384 | COL4A5 | c.4297G>C (p.Gly1433Arg) c.4279G>C (p.Gly1427Arg) n.791G>C n.700G>C c.93G>C c.4288G>C (p.Gly1430Arg) c.3973G>C (p.Gly1325Arg) c.1870G>C (p.Gly624Arg) c.4312G>C (p.Gly1438Arg) c.4303G>C (p.Gly1435Arg) c.4294G>C (p.Gly1432Arg) c.2632G>C (p.Gly878Arg) | dbSNP |
| X | g.108686111G>T | CA259015 | COL4A5 | c.4297G>T (p.Gly1433Cys) c.4279G>T (p.Gly1427Cys) n.791G>T n.700G>T c.93G>T c.4288G>T (p.Gly1430Cys) c.3973G>T (p.Gly1325Cys) c.1870G>T (p.Gly624Cys) c.4312G>T (p.Gly1438Cys) c.4303G>T (p.Gly1435Cys) c.4294G>T (p.Gly1432Cys) c.2632G>T (p.Gly878Cys) | dbSNP |