| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.179130005C>T | CA117558 | ADAMTS2 | c.2384G>A (p.Trp795Ter) | ClinVar dbSNP |
| 5 | g.179130005C= | CA2838168232 | ADAMTS2 | c.2384G= (p.Trp795=) | dbSNP |
| 5 | g.179130005C>G | CA362423986 | ADAMTS2 | c.2384G>C (p.Trp795Ser) | dbSNP |