| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.21002881C>T | CA022778 | APOB | c.12541G>A (p.Glu4181Lys) c.5870-3608G>A (n.5870-3608G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002881C>A | CA050516 | APOB | c.12541G>T (p.Glu4181Ter) c.5870-3608G>T (n.5870-3608G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21002881C>G | CA345971020 | APOB | c.12541G>C (p.Glu4181Gln) c.5870-3608G>C (n.5870-3608G>C) | dbSNP |
| 2 | g.21002881C= | CA2493473178 | APOB | c.12541G= (p.Glu4181=) c.5870-3608G= (n.5870-3608G=) | dbSNP |