| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11022451G>T | CA340379 | MASP2,TARDBP | c.1397-258C>A (n.1397-258C>A) c.1042G>T (p.Gly348Cys) c.832+210G>T (n.832+210G>T) c.768+274G>T (n.768+274G>T) c.*623G>T (n.*623G>T) c.841+201G>T (n.841+201G>T) c.140+201G>T c.319+201G>T (n.319+201G>T) c.212+210G>T c.472+210G>T (n.472+210G>T) c.107+201G>T c.221+274G>T c.582+201G>T c.392+201G>T c.144G>T c.859+183G>T (n.859+183G>T) c.579+210G>T n.1164G>T | ClinVar dbSNP |
| 1 | g.11022451G= | CA1141187540 | MASP2,TARDBP | c.1397-258C= (n.1397-258C=) c.1042G= (p.Gly348=) c.832+210G= (n.832+210G=) c.768+274G= (n.768+274G=) c.*623G= (n.*623G=) c.841+201G= (n.841+201G=) c.140+201G= c.319+201G= (n.319+201G=) c.212+210G= c.472+210G= (n.472+210G=) c.107+201G= c.221+274G= c.582+201G= c.392+201G= c.144G= c.859+183G= (n.859+183G=) c.579+210G= n.1164G= | dbSNP |