NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_003085.5(SNCB):c.368C>A (p.Pro123His)
|
rs104893937
|
0.00021
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_000157.4(GBA1):c.222_224del (p.Thr75del)
|
rs761621516
|
0.00016
|
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)
|
rs364897
|
0.00011
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000157.4(GBA1):c.84dup (p.Leu29fs)
|
rs387906315
|
0.00006
|
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)
|
rs78973108
|
0.00004
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
|
rs80356769
|
0.00001
|
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)
|
rs1141814
|
0.00001
|
NM_000157.4(GBA1):c.595_596del (p.Leu199fs)
|
rs749714463
|
0.00001
|
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)
|
rs1064644
|
0.00001
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)
|
rs74500255
|
0.00001
|
NM_003085.5(SNCB):c.208G>A (p.Val70Met)
|
rs104893936
|
0.00001
|
NC_000004.11:g.(?_90647315)_(90756828_?)dup
|
|
|
NC_000004.11:g.(?_90647315)_(90756838_?)dup
|
|
|
NC_000004.11:g.(?_90647779)_(90756818_?)dup
|
|
|
NC_000004.12:g.(?_89724098)_(89927969_89934809)dup
|
|
|
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)
|
rs121908309
|
|
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly)
|
rs1450426641
|
|
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)
|
rs80356768
|
|
NM_000157.4(GBA1):c.1361C>T (p.Pro454Leu)
|
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.203dup (p.Thr69fs)
|
rs1170895261
|
|
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr)
|
rs866075757
|
|
NM_000157.4(GBA1):c.914del (p.Pro305fs)
|
rs1366567865
|
|
NM_000345.4(SNCA):c.136G>A (p.Glu46Lys)
|
rs104893875
|
|
NM_000345.4(SNCA):c.157G>A (p.Ala53Thr)
|
rs104893877
|
|
NM_000345.4(SNCA):c.89C>G (p.Ala30Gly)
|
rs2110525413
|
|