| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.130996904A>T | CA83503385 | ATP2C1 | c.2243+108A>T (n.2243+108A>T) c.2228+108A>T (n.2228+108A>T) c.2104+108A>T c.2195+108A>T (n.2195+108A>T) c.2345+108A>T (n.2345+108A>T) c.142+108A>T (n.142+108A>T) c.796+108A>T n.2413+108A>T c.2174+108A>T (n.2174+108A>T) c.1409+108A>T (n.1409+108A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.130996904A>C | CA83503369 | ATP2C1 | c.2243+108A>C (n.2243+108A>C) c.2228+108A>C (n.2228+108A>C) c.2104+108A>C c.2195+108A>C (n.2195+108A>C) c.2345+108A>C (n.2345+108A>C) c.142+108A>C (n.142+108A>C) c.796+108A>C n.2413+108A>C c.2174+108A>C (n.2174+108A>C) c.1409+108A>C (n.1409+108A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |