| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.8580902A>C | CA9159943 | ADAMTS10 | c.3303T>G (p.His1101Gln) c.*2180T>G (n.*2180T>G) c.1764T>G (p.His588Gln) c.2346T>G (p.His782Gln) c.3450T>G (p.His1150Gln) c.3126T>G (p.His1042Gln) c.2019T>G (p.His673Gln) c.2013T>G (p.His671Gln) c.1872T>G (p.His624Gln) c.1866T>G (p.His622Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.8580902A>G | CA505262847 | ADAMTS10 | c.3303T>C (p.His1101=) c.*2180T>C (n.*2180T>C) c.1764T>C (p.His588=) c.2346T>C (p.His782=) c.3450T>C (p.His1150=) c.3126T>C (p.His1042=) c.2019T>C (p.His673=) c.2013T>C (p.His671=) c.1872T>C (p.His624=) c.1866T>C (p.His622=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |