| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6526401A>C | CA2014114177 | NCAPD2 | c.2566+30A>C (n.2566+30A>C) c.2182+30A>C (n.2182+30A>C) c.*2261+30A>C (n.*2261+30A>C) n.499+30A>C | dbSNP gnomAD v4 |
| 12 | g.6526401A>T | CA6408794 | NCAPD2 | c.2566+30A>T (n.2566+30A>T) c.2182+30A>T (n.2182+30A>T) c.*2261+30A>T (n.*2261+30A>T) n.499+30A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |