Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189045800C>T | CA10581908 | COL5A2 | c.3309G>A (p.Pro1103=) c.2148G>A (p.Pro716=) c.3171G>A (p.Pro1057=) | ClinVar dbSNP COSMIC |
2 | g.189045800C= | CA1315418717 | COL5A2 | c.3309G= (p.Pro1103=) c.2148G= (p.Pro716=) c.3171G= (p.Pro1057=) | dbSNP |