| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108582920G>T | CA258379 | COL4A5 | c.973G>T (p.Gly325Ter) n.429G>T c.649G>T (p.Gly217Ter) c.988G>T (p.Gly330Ter) c.-737G>T (n.-737G>T) | dbSNP COSMIC |
| X | g.108582920G>A | CA255262 | COL4A5 | c.973G>A (p.Gly325Arg) n.429G>A c.649G>A (p.Gly217Arg) c.988G>A (p.Gly330Arg) c.-737G>A (n.-737G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.108582920G>C | CA413927642 | COL4A5 | c.973G>C (p.Gly325Arg) n.429G>C c.649G>C (p.Gly217Arg) c.988G>C (p.Gly330Arg) c.-737G>C (n.-737G>C) | ClinVar dbSNP |