| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108666576G>T | CA413847854 | COL4A5 | c.3535G>T (p.Gly1179Ter) c.3211G>T (p.Gly1071Ter) c.1108G>T (p.Gly370Ter) c.3550G>T (p.Gly1184Ter) c.1870G>T (p.Gly624Ter) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108666576G>A | CA258885 | COL4A5 | c.3535G>A (p.Gly1179Arg) c.3211G>A (p.Gly1071Arg) c.1108G>A (p.Gly370Arg) c.3550G>A (p.Gly1184Arg) c.1870G>A (p.Gly624Arg) | dbSNP |