Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.40309225A>C | CA343577 | LRRK2 | c.4309A>C (p.Asn1437His) c.*3218A>C (n.*3218A>C) c.4054A>C (p.Asn1352His) c.1605A>C n.990A>C c.3106A>C (p.Asn1036His) c.1225A>C (p.Asn409His) c.571A>C (p.Asn191His) n.4551A>C | ClinVar dbSNP |
12 | g.40309225A= | CA2031002985 | LRRK2 | c.4309A= (p.Asn1437=) c.*3218A= (n.*3218A=) c.4054A= (p.Asn1352=) c.1605A= n.990A= c.3106A= (p.Asn1036=) c.1225A= (p.Asn409=) c.571A= (p.Asn191=) n.4551A= | dbSNP |