Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.89669998G>A | CA393793966 | PLIN1 | c.580C>T (p.Pro194Ser) | dbSNP gnomAD v4 |
15 | g.89669998G>T | CA7729018 | PLIN1 | c.580C>A (p.Pro194Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89669998G>C | CA154702 | PLIN1 | c.580C>G (p.Pro194Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |