| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11022196A>G | CA117346 | MASP2,TARDBP | c.1397-3T>C (n.1397-3T>C) c.787A>G (p.Lys263Glu) c.768+19A>G (n.768+19A>G) c.*368A>G (n.*368A>G) c.86A>G c.265A>G (p.Lys89Glu) c.167A>G c.427A>G (p.Lys143Glu) c.53A>G c.221+19A>G c.528A>G c.338A>G c.616A>G (p.Lys206Glu) c.534A>G n.909A>G | ClinVar dbSNP |
| 1 | g.11022196A= | CA1143537732 | MASP2,TARDBP | c.1397-3T= (n.1397-3T=) c.787A= (p.Lys263=) c.768+19A= (n.768+19A=) c.*368A= (n.*368A=) c.86A= c.265A= (p.Lys89=) c.167A= c.427A= (p.Lys143=) c.53A= c.221+19A= c.528A= c.338A= c.616A= (p.Lys206=) c.534A= n.909A= | dbSNP |