Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.173914750T>A | CA32782294 | SERPINC1 | c.211A>T (p.Lys71Ter) n.437A>T c.67A>T (p.Lys23Ter) c.292A>T (p.Lys98Ter) | dbSNP |
1 | g.173914750T>G | CA343777971 | SERPINC1 | c.211A>C (p.Lys71Gln) n.437A>C c.67A>C (p.Lys23Gln) c.292A>C (p.Lys98Gln) | dbSNP gnomAD v4 |
1 | g.173914750T= | CA1143355586 | SERPINC1 | c.211A= (p.Lys71=) n.437A= c.67A= (p.Lys23=) c.292A= (p.Lys98=) | dbSNP |