| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591127G>A | CA413932564 | COL4A5 | c.1235G>A (p.Gly412Glu) n.691G>A c.911G>A (p.Gly304Glu) c.1250G>A (p.Gly417Glu) c.-475G>A (n.-475G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.108591127G>T | CA258439 | COL4A5 | c.1235G>T (p.Gly412Val) n.691G>T c.911G>T (p.Gly304Val) c.1250G>T (p.Gly417Val) c.-475G>T (n.-475G>T) | dbSNP |
| X | g.108591127G= | CA2450686412 | COL4A5 | c.1235G= (p.Gly412=) n.691G= c.911G= (p.Gly304=) c.1250G= (p.Gly417=) c.-475G= (n.-475G=) | dbSNP |