| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.32601410C>T | CA339860 | FGD4 | c.823C>T (p.Arg275Ter) c.1078C>T (p.Arg360Ter) c.544C>T (p.Arg182Ter) c.-227C>T (n.-227C>T) n.330C>T c.1234C>T (p.Arg412Ter) c.*215C>T (n.*215C>T) c.412C>T c.1159C>T (p.Arg387Ter) c.*192C>T (n.*192C>T) c.79C>T (p.Arg27Ter) c.-229C>T (n.-229C>T) c.1315C>T (p.Arg439Ter) c.1117C>T (p.Arg373Ter) c.271C>T (p.Arg91Ter) c.226C>T (p.Arg76Ter) c.71+76C>T (n.71+76C>T) c.-56+76C>T (n.-56+76C>T) n.1505C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.32601410C= | CA2026256569 | FGD4 | c.823C= (p.Arg275=) c.1078C= (p.Arg360=) c.544C= (p.Arg182=) c.-227C= (n.-227C=) n.330C= c.1234C= (p.Arg412=) c.*215C= (n.*215C=) c.412C= c.1159C= (p.Arg387=) c.*192C= (n.*192C=) c.79C= (p.Arg27=) c.-229C= (n.-229C=) c.1315C= (p.Arg439=) c.1117C= (p.Arg373=) c.271C= (p.Arg91=) c.226C= (p.Arg76=) c.71+76C= (n.71+76C=) c.-56+76C= (n.-56+76C=) n.1505C= | dbSNP |