NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg)
|
rs150519745
|
0.00005
|
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)
|
rs374591570
|
0.00003
|
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)
|
rs1264734195
|
0.00002
|
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
|
rs765893479
|
0.00002
|
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)
|
rs374306700
|
0.00001
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)
|
rs1398584213
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_001042432.2(CLN3):c.125+5G>A
|
rs386833704
|
0.00001
|
NM_001042432.2(CLN3):c.461-1G>T
|
rs386833722
|
0.00001
|
NM_001042432.2(CLN3):c.47-1G>A
|
rs1555469477
|
0.00001
|
NM_001042432.2(CLN3):c.963-1G>A
|
rs386833742
|
0.00001
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
NM_022089.4(ATP13A2):c.2529+1G>A
|
rs776448394
|
0.00001
|
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)
|
rs398123527
|
|
NM_000157.4(GBA1):c.1388+2T>C
|
rs1571965880
|
|
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
|
rs421016
|
|
NM_000157.4(GBA1):c.509G>A (p.Arg170His)
|
rs80356763
|
|
NM_000157.4(GBA1):c.913C>G (p.Pro305Ala)
|
rs770796008
|
|
NM_000157.4(GBA1):c.929G>A (p.Ser310Asn)
|
rs74731340
|
|
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)
|
rs1575206357
|
|
NM_000784.4(CYP27A1):c.1017+1del
|
rs1559392904
|
|
NM_000784.4(CYP27A1):c.1018-1G>C
|
rs1575206658
|
|
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)
|
rs1575206688
|
|
NM_000784.4(CYP27A1):c.1146_1151delinsAAGCT (p.His382fs)
|
|
|
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
|
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1333del (p.Gln445fs)
|
|
|
NM_000784.4(CYP27A1):c.1374dup (p.Arg459fs)
|
|
|
NM_000784.4(CYP27A1):c.1453G>T (p.Glu485Ter)
|
|
|
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
|
|
|
NM_000784.4(CYP27A1):c.1472dup (p.Arg492fs)
|
|
|
NM_000784.4(CYP27A1):c.1477-1G>A
|
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)
|
rs374507635
|
|
NM_000784.4(CYP27A1):c.20del (p.Ala7fs)
|
|
|
NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys)
|
|
|
NM_000784.4(CYP27A1):c.395del (p.Leu132fs)
|
|
|
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
|
|
|
NM_000784.4(CYP27A1):c.473dup (p.Gln159fs)
|
|
|
NM_000784.4(CYP27A1):c.522T>A (p.Tyr174Ter)
|
|
|
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
|
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000784.4(CYP27A1):c.608_614del (p.Ser203fs)
|
|
|
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)
|
rs755532803
|
|
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
|
|
|
NM_000784.4(CYP27A1):c.845-1G>C
|
|
|
NM_000784.4(CYP27A1):c.845-46_881del
|
|
|
NM_000784.4(CYP27A1):c.953del (p.Gly318fs)
|
|
|
NM_000784.4(CYP27A1):c.985_994del (p.Leu329fs)
|
|
|
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
|
rs386833694
|
|
NM_001042432.2(CLN3):c.1055dup (p.Cys353fs)
|
|
|
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter)
|
rs1057516677
|
|
NM_001042432.2(CLN3):c.1075del (p.Leu359fs)
|
rs2046023126
|
|
NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)
|
|
|
NM_001042432.2(CLN3):c.1197+1G>A
|
|
|
NM_001042432.2(CLN3):c.125+2T>C
|
|
|
NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)
|
|
|
NM_001042432.2(CLN3):c.18del (p.Ser7fs)
|
|
|
NM_001042432.2(CLN3):c.250del (p.His84fs)
|
|
|
NM_001042432.2(CLN3):c.363dup (p.Leu122fs)
|
|
|
NM_001042432.2(CLN3):c.372C>G (p.Tyr124Ter)
|
|
|
NM_001042432.2(CLN3):c.375-2del
|
|
|
NM_001042432.2(CLN3):c.379dup (p.Arg127fs)
|
|
|
NM_001042432.2(CLN3):c.419del (p.Val140fs)
|
|
|
NM_001042432.2(CLN3):c.46+1G>A
|
rs1057516343
|
|
NM_001042432.2(CLN3):c.461-3C>G
|
rs181995380
|
|
NM_001042432.2(CLN3):c.467del (p.Val156fs)
|
|
|
NM_001042432.2(CLN3):c.47-2del
|
|
|
NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.555del (p.Ser186fs)
|
|
|
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg)
|
rs386833731
|
|
NM_001042432.2(CLN3):c.639del (p.Leu214fs)
|
rs2046218391
|
|
NM_001042432.2(CLN3):c.677+1G>T
|
rs1057517287
|
|
NM_001042432.2(CLN3):c.678-1_680del
|
|
|
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)
|
rs2046158549
|
|
NM_001042432.2(CLN3):c.790+1del
|
rs1555468374
|
|
NM_001042432.2(CLN3):c.849G>A (p.Trp283Ter)
|
|
|
NM_001042432.2(CLN3):c.910G>T (p.Glu304Ter)
|
|
|
NM_001042432.2(CLN3):c.937del (p.Ser312_Leu313insTer)
|
|
|
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe)
|
rs386833744
|
|
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)
|
rs2046109345
|
|