| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108575947G>A | CA258276 | COL4A5 | c.584G>A (p.Gly195Asp) c.260G>A (p.Gly87Asp) c.599G>A (p.Gly200Asp) | ClinVar dbSNP |
| X | g.108575947G>T | CA413922299 | COL4A5 | c.584G>T (p.Gly195Val) c.260G>T (p.Gly87Val) c.599G>T (p.Gly200Val) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108575947G= | CA2450681493 | COL4A5 | c.584G= (p.Gly195=) c.260G= (p.Gly87=) c.599G= (p.Gly200=) | dbSNP |
| X | g.108575947G>C | CA413922298 | COL4A5 | c.584G>C (p.Gly195Ala) c.260G>C (p.Gly87Ala) c.599G>C (p.Gly200Ala) | dbSNP gnomAD v4 |