| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.114693436G>T | CA29032115 | AMPD1 | c.22+2014C>A (n.22+2014C>A) c.34C>A (p.Gln12Lys) c.37+2001C>A (n.37+2001C>A) c.121+2014C>A (n.121+2014C>A) c.133C>A (p.Gln45Lys) | dbSNP gnomAD v4 |
| 1 | g.114693436G>A | CA128022 | AMPD1 | c.22+2014C>T (n.22+2014C>T) c.34C>T (p.Gln12Ter) c.37+2001C>T (n.37+2001C>T) c.121+2014C>T (n.121+2014C>T) c.133C>T (p.Gln45Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114693436G= | CA1140472733 | AMPD1 | c.22+2014C= (n.22+2014C=) c.34C= (p.Gln12=) c.37+2001C= (n.37+2001C=) c.121+2014C= (n.121+2014C=) c.133C= (p.Gln45=) | dbSNP |
| 1 | g.114693436G>C | CA341735142 | AMPD1 | c.22+2014C>G (n.22+2014C>G) c.34C>G (p.Gln12Glu) c.37+2001C>G (n.37+2001C>G) c.121+2014C>G (n.121+2014C>G) c.133C>G (p.Gln45Glu) | dbSNP |