| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.70758081C>T | CA5540319 | ADAMTS14 | c.3057C>T (p.Pro1019=) c.3066C>T (p.Pro1022=) c.2556C>T (p.Pro852=) c.2130C>T (p.Pro710=) c.1626C>T (p.Pro542=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70758081C= | CA1918399666 | ADAMTS14 | c.3057C= (p.Pro1019=) c.3066C= (p.Pro1022=) c.2556C= (p.Pro852=) c.2130C= (p.Pro710=) c.1626C= (p.Pro542=) | dbSNP |