| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.187219412T>G | CA11462954 | MASP1 | c.*659A>C (n.*659A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.187219412T>A | CA1427297888 | MASP1 | c.*659A>T (n.*659A>T) | dbSNP gnomAD v4 |
| 3 | g.187219412T= | CA1427297889 | MASP1 | c.*659A= (n.*659A=) | dbSNP |
| 3 | g.187219412T>C | CA2581905190 | MASP1 | c.*659A>G (n.*659A>G) | dbSNP gnomAD v4 |