| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173903902G>A | CA210781 | SERPINC1 | c.1382C>T (p.Pro461Leu) c.767C>T (p.Pro256Leu) c.1238C>T (p.Pro413Leu) c.1505C>T (p.Pro502Leu) c.1463C>T (p.Pro488Leu) c.1361C>T (p.Pro454Leu) c.1325C>T (p.Pro442Leu) c.1166C>T (p.Pro389Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173903902G>C | CA343772036 | SERPINC1 | c.1382C>G (p.Pro461Arg) c.767C>G (p.Pro256Arg) c.1238C>G (p.Pro413Arg) c.1505C>G (p.Pro502Arg) c.1463C>G (p.Pro488Arg) c.1361C>G (p.Pro454Arg) c.1325C>G (p.Pro442Arg) c.1166C>G (p.Pro389Arg) | dbSNP |
| 1 | g.173903902G= | CA1141581217 | SERPINC1 | c.1382C= (p.Pro461=) c.767C= (p.Pro256=) c.1238C= (p.Pro413=) c.1505C= (p.Pro502=) c.1463C= (p.Pro488=) c.1361C= (p.Pro454=) c.1325C= (p.Pro442=) c.1166C= (p.Pro389=) | dbSNP |