| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.41000929G>T | CA96194533 | APBB2 | c.835+12654C>A (n.835+12654C>A) n.803+12654C>A c.803+12654C>A c.784+12654C>A (n.784+12654C>A) | dbSNP |
| 4 | g.41000929G>C | CA11686017 | APBB2 | c.835+12654C>G (n.835+12654C>G) n.803+12654C>G c.803+12654C>G c.784+12654C>G (n.784+12654C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41000929G>A | CA794871354 | APBB2 | c.835+12654C>T (n.835+12654C>T) n.803+12654C>T c.803+12654C>T c.784+12654C>T (n.784+12654C>T) | dbSNP |