| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11022209A>G | CA586454 | MASP2,TARDBP | c.1397-16T>C (n.1397-16T>C) c.800A>G (p.Asn267Ser) c.768+32A>G (n.768+32A>G) c.*381A>G (n.*381A>G) c.99A>G c.278A>G (p.Asn93Ser) c.180A>G c.440A>G (p.Asn147Ser) c.66A>G c.221+32A>G c.541A>G c.351A>G c.629A>G (p.Asn210Ser) c.547A>G n.922A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11022209A= | CA1141187527 | MASP2,TARDBP | c.1397-16T= (n.1397-16T=) c.800A= (p.Asn267=) c.768+32A= (n.768+32A=) c.*381A= (n.*381A=) c.99A= c.278A= (p.Asn93=) c.180A= c.440A= (p.Asn147=) c.66A= c.221+32A= c.541A= c.351A= c.629A= (p.Asn210=) c.547A= n.922A= | dbSNP |