Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108668400G>T | CA413848741 | COL4A5 | c.3686G>T (p.Gly1229Val) c.3362G>T (p.Gly1121Val) c.1259G>T (p.Gly420Val) c.3701G>T (p.Gly1234Val) c.2021G>T (p.Gly674Val) | ClinVar dbSNP |
X | g.108668400G>A | CA258928 | COL4A5 | c.3686G>A (p.Gly1229Asp) c.3362G>A (p.Gly1121Asp) c.1259G>A (p.Gly420Asp) c.3701G>A (p.Gly1234Asp) c.2021G>A (p.Gly674Asp) | dbSNP |
X | g.108668400G>C | CA413848739 | COL4A5 | c.3686G>C (p.Gly1229Ala) c.3362G>C (p.Gly1121Ala) c.1259G>C (p.Gly420Ala) c.3701G>C (p.Gly1234Ala) c.2021G>C (p.Gly674Ala) | ClinVar dbSNP |