| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108601941G>T | CA258614 | COL4A5 | c.2098G>T (p.Glu700Ter) n.1554G>T c.1774G>T (p.Glu592Ter) c.2113G>T (p.Glu705Ter) c.433G>T (p.Glu145Ter) | dbSNP |
| X | g.108601941G= | CA2450689954 | COL4A5 | c.2098G= (p.Glu700=) n.1554G= c.1774G= (p.Glu592=) c.2113G= (p.Glu705=) c.433G= (p.Glu145=) | dbSNP |