Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.35434109G>T | CA119581 | GDF5,GDF5-AS1 | c.1306C>A (p.Pro436Thr) c.-50G>T (n.-50G>T) n.393G>T | ClinVar dbSNP |
20 | g.35434109G= | CA2361649305 | GDF5,GDF5-AS1 | c.1306C= (p.Pro436=) c.-50G= (n.-50G=) n.393G= | dbSNP |
20 | g.35434109G>A | CA408738475 | GDF5,GDF5-AS1 | c.1306C>T (p.Pro436Ser) c.-50G>A (n.-50G>A) n.393G>A | dbSNP gnomAD v4 |