Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.26930036A>G | CA9988945 | ADAMTS5 | c.2075T>C (p.Leu692Pro) c.1401T>C c.1907T>C (p.Leu636Pro) n.516-22537A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.26930036A>T | CA409984415 | ADAMTS5 | c.2075T>A (p.Leu692Gln) c.1401T>A c.1907T>A (p.Leu636Gln) n.516-22537A>T | dbSNP gnomAD v3 gnomAD v4 |