| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.44320435G>A | CA1640778 | PREPL,SLC3A1 | c.1854G>A (p.Met618Ile) c.*921C>T (n.*921C>T) c.1020G>A (p.Met340Ile) c.747G>A (p.Met249Ile) c.414C>T (n.414C>T) c.*994C>T (n.*994C>T) c.*2240G>A (n.*2240G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.44320435G>C | CA1640779 | PREPL,SLC3A1 | c.1854G>C (p.Met618Ile) c.*921C>G (n.*921C>G) c.1020G>C (p.Met340Ile) c.747G>C (p.Met249Ile) c.414C>G (n.414C>G) c.*994C>G (n.*994C>G) c.*2240G>C (n.*2240G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.44320435G= | CA1630834334 | PREPL,SLC3A1 | c.1854G= (p.Met618=) c.*921C= (n.*921C=) c.1020G= (p.Met340=) c.747G= (p.Met249=) c.414C= (n.414C=) c.*994C= (n.*994C=) c.*2240G= (n.*2240G=) | dbSNP |