| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.93884869G>A | CA78477958 | PROS1 | c.1351C>T (p.Arg451Ter) c.1306C>T (p.Arg436Ter) n.1519C>T c.1309C>T (p.Arg437Ter) c.1450C>T (n.1450C>T) c.106C>T (p.Arg36Ter) c.1447C>T (p.Arg483Ter) c.958C>T (p.Arg320Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.93884869G= | CA1385033092 | PROS1 | c.1351C= (p.Arg451=) c.1306C= (p.Arg436=) n.1519C= c.1309C= (p.Arg437=) c.1450C= (n.1450C=) c.106C= (p.Arg36=) c.1447C= (p.Arg483=) c.958C= (p.Arg320=) | dbSNP |
| 3 | g.93884869G>C | CA353668910 | PROS1 | c.1351C>G (p.Arg451Gly) c.1306C>G (p.Arg436Gly) n.1519C>G c.1309C>G (p.Arg437Gly) c.1450C>G (n.1450C>G) c.106C>G (p.Arg36Gly) c.1447C>G (p.Arg483Gly) c.958C>G (p.Arg320Gly) | dbSNP gnomAD v4 |