| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108626272G>T | CA258813 | COL4A5 | c.3169G>T (p.Gly1057Ter) n.2625G>T c.402G>T c.2845G>T (p.Gly949Ter) c.742G>T (p.Gly248Ter) c.3184G>T (p.Gly1062Ter) c.1504G>T (p.Gly502Ter) | dbSNP |
| X | g.108626272G= | CA2450698082 | COL4A5 | c.3169G= (p.Gly1057=) n.2625G= c.402G= c.2845G= (p.Gly949=) c.742G= (p.Gly248=) c.3184G= (p.Gly1062=) c.1504G= (p.Gly502=) | dbSNP |
| X | g.108626272G>C | CA413854967 | COL4A5 | c.3169G>C (p.Gly1057Arg) n.2625G>C c.402G>C c.2845G>C (p.Gly949Arg) c.742G>C (p.Gly248Arg) c.3184G>C (p.Gly1062Arg) c.1504G>C (p.Gly502Arg) | ClinVar dbSNP |