| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108584485G>T | CA258383 | COL4A5 | c.992G>T (p.Gly331Val) n.448G>T c.668G>T (p.Gly223Val) c.1007G>T (p.Gly336Val) c.-718G>T (n.-718G>T) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108584485G= | CA2450684339 | COL4A5 | c.992G= (p.Gly331=) n.448G= c.668G= (p.Gly223=) c.1007G= (p.Gly336=) c.-718G= (n.-718G=) | dbSNP |