| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44960841C>T | CA14435778 | C1QL1,NMT1 | c.598-474G>A (n.598-474G>A) c.-110+2779C>T (n.-110+2779C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44960841C= | CA2261634026 | C1QL1,NMT1 | c.598-474G= (n.598-474G=) c.-110+2779C= (n.-110+2779C=) | dbSNP |