| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108655403G>A | CA258854 | COL4A5 | c.3319G>A (p.Gly1107Arg) c.2995G>A (p.Gly999Arg) c.892G>A (p.Gly298Arg) c.3334G>A (p.Gly1112Arg) c.1654G>A (p.Gly552Arg) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108655403G>T | CA413857457 | COL4A5 | c.3319G>T (p.Gly1107Ter) c.2995G>T (p.Gly999Ter) c.892G>T (p.Gly298Ter) c.3334G>T (p.Gly1112Ter) c.1654G>T (p.Gly552Ter) | ClinVar dbSNP |
| X | g.108655403G= | CA2450708621 | COL4A5 | c.3319G= (p.Gly1107=) c.2995G= (p.Gly999=) c.892G= (p.Gly298=) c.3334G= (p.Gly1112=) c.1654G= (p.Gly552=) | dbSNP |