| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.93927251G>A | CA337558 | PROS1 | c.233C>T (p.Thr78Met) c.-161C>T (n.-161C>T) n.401C>T c.191C>T (p.Thr64Met) c.212C>T (p.Thr71Met) c.329C>T (p.Thr110Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93927251G= | CA1385059258 | PROS1 | c.233C= (p.Thr78=) c.-161C= (n.-161C=) n.401C= c.191C= (p.Thr64=) c.212C= (p.Thr71=) c.329C= (p.Thr110=) | dbSNP |
| 3 | g.93927251G>T | CA353674400 | PROS1 | c.233C>A (p.Thr78Lys) c.-161C>A (n.-161C>A) n.401C>A c.191C>A (p.Thr64Lys) c.212C>A (p.Thr71Lys) c.329C>A (p.Thr110Lys) | dbSNP gnomAD v4 |
| 3 | g.93927251G>C | CA353674399 | PROS1 | c.233C>G (p.Thr78Arg) c.-161C>G (n.-161C>G) n.401C>G c.191C>G (p.Thr64Arg) c.212C>G (p.Thr71Arg) c.329C>G (p.Thr110Arg) | dbSNP gnomAD v4 |