| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108666522G>C | CA413847717 | COL4A5 | c.3481G>C (p.Gly1161Arg) c.3157G>C (p.Gly1053Arg) c.1054G>C (p.Gly352Arg) c.3496G>C (p.Gly1166Arg) c.1816G>C (p.Gly606Arg) | ClinVar dbSNP |
| X | g.108666522G>A | CA258874 | COL4A5 | c.3481G>A (p.Gly1161Arg) c.3157G>A (p.Gly1053Arg) c.1054G>A (p.Gly352Arg) c.3496G>A (p.Gly1166Arg) c.1816G>A (p.Gly606Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.108666522G= | CA2450712323 | COL4A5 | c.3481G= (p.Gly1161=) c.3157G= (p.Gly1053=) c.1054G= (p.Gly352=) c.3496G= (p.Gly1166=) c.1816G= (p.Gly606=) | dbSNP |