| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591100G>T | CA258422 | COL4A5 | c.1208G>T (p.Gly403Val) n.664G>T c.884G>T (p.Gly295Val) c.1223G>T (p.Gly408Val) c.-502G>T (n.-502G>T) | dbSNP |
| X | g.108591100G>C | CA413932305 | COL4A5 | c.1208G>C (p.Gly403Ala) n.664G>C c.884G>C (p.Gly295Ala) c.1223G>C (p.Gly408Ala) c.-502G>C (n.-502G>C) | ClinVar dbSNP |
| X | g.108591100G>A | CA413932302 | COL4A5 | c.1208G>A (p.Gly403Glu) n.664G>A c.884G>A (p.Gly295Glu) c.1223G>A (p.Gly408Glu) c.-502G>A (n.-502G>A) | ClinVar dbSNP |
| X | g.108591100G= | CA2450686398 | COL4A5 | c.1208G= (p.Gly403=) n.664G= c.884G= (p.Gly295=) c.1223G= (p.Gly408=) c.-502G= (n.-502G=) | dbSNP |