| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108626210G>A | CA413854841 | COL4A5 | c.3107G>A (p.Gly1036Glu) n.2563G>A c.340G>A c.2783G>A (p.Gly928Glu) c.680G>A (p.Gly227Glu) c.3122G>A (p.Gly1041Glu) c.1442G>A (p.Gly481Glu) | ClinVar dbSNP |
| X | g.108626210G>T | CA258806 | COL4A5 | c.3107G>T (p.Gly1036Val) n.2563G>T c.340G>T c.2783G>T (p.Gly928Val) c.680G>T (p.Gly227Val) c.3122G>T (p.Gly1041Val) c.1442G>T (p.Gly481Val) | dbSNP |
| X | g.108626210G= | CA2450698062 | COL4A5 | c.3107G= (p.Gly1036=) n.2563G= c.340G= c.2783G= (p.Gly928=) c.680G= (p.Gly227=) c.3122G= (p.Gly1041=) c.1442G= (p.Gly481=) | dbSNP |