| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108666549G>C | CA413847770 | COL4A5 | c.3508G>C (p.Gly1170Arg) c.3184G>C (p.Gly1062Arg) c.1081G>C (p.Gly361Arg) c.3523G>C (p.Gly1175Arg) c.1843G>C (p.Gly615Arg) | ClinVar dbSNP |
| X | g.108666549G>A | CA258878 | COL4A5 | c.3508G>A (p.Gly1170Ser) c.3184G>A (p.Gly1062Ser) c.1081G>A (p.Gly361Ser) c.3523G>A (p.Gly1175Ser) c.1843G>A (p.Gly615Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108666549G>T | CA413847771 | COL4A5 | c.3508G>T (p.Gly1170Cys) c.3184G>T (p.Gly1062Cys) c.1081G>T (p.Gly361Cys) c.3523G>T (p.Gly1175Cys) c.1843G>T (p.Gly615Cys) | ClinVar dbSNP gnomAD v4 |