NM_001171613.2(PREPL):c.1753+1G>T
|
rs148092524
|
0.00009
|
NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile)
|
rs776720609
|
0.00004
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg)
|
rs762345055
|
0.00003
|
NM_001244710.2(GFPT1):c.209A>G (p.Asp70Gly)
|
rs530830788
|
0.00002
|
NM_005677.4(COLQ):c.555+1G>A
|
rs769276577
|
0.00002
|
NM_020549.5(CHAT):c.1492T>C (p.Ser498Pro)
|
rs1409506586
|
0.00002
|
NM_198576.4(AGRN):c.5012G>A (p.Arg1671Gln)
|
rs769667244
|
0.00002
|
NM_000080.4(CHRNE):c.1033-2A>T
|
rs786204773
|
0.00001
|
NM_000080.4(CHRNE):c.1220-1G>A
|
rs373710822
|
0.00001
|
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg)
|
rs759226183
|
0.00001
|
NM_001171613.2(PREPL):c.1262+1G>A
|
rs1172015222
|
0.00001
|
NM_001171613.2(PREPL):c.1263-1G>C
|
rs1316112168
|
0.00001
|
NM_001382.4(DPAGT1):c.643+2T>C
|
rs774754436
|
0.00001
|
NM_005055.5(RAPSN):c.1070dup (p.Glu358fs)
|
rs1475015182
|
0.00001
|
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys)
|
rs767507908
|
0.00001
|
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)
|
rs374604570
|
0.00001
|
NM_005677.4(COLQ):c.954+1G>A
|
rs757060689
|
0.00001
|
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu)
|
rs121912817
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_020549.5(CHAT):c.841C>T (p.Arg281Trp)
|
rs747108035
|
0.00001
|
NM_173660.5(DOK7):c.436C>T (p.Pro146Ser)
|
rs1727094027
|
0.00001
|
NM_198576.4(AGRN):c.3250+1G>A
|
rs759853904
|
0.00001
|
NC_000002.12:g.(?_69363535)_(69363680_?)del
|
|
|
NC_000009.11:g.(?_113431213)_(113441760_?)del
|
|
|
NC_000009.11:g.(?_113457663)_(113524508_?)dup
|
|
|
NC_000009.11:g.(?_113496521)_(113524498_?)dup
|
|
|
NM_000080.4(CHRNE):c.1032+1G>A
|
rs1458613529
|
|
NM_000080.4(CHRNE):c.1033-2del
|
|
|
NM_000080.4(CHRNE):c.1216_1219+19del
|
rs760623071
|
|
NM_000080.4(CHRNE):c.1220-1G>C
|
rs373710822
|
|
NM_000080.4(CHRNE):c.1220-2A>C
|
|
|
NM_000080.4(CHRNE):c.1220-2A>G
|
rs1309292778
|
|
NM_000080.4(CHRNE):c.1220-6_1227del
|
rs1567635954
|
|
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup)
|
rs1969834618
|
|
NM_000080.4(CHRNE):c.1388T>G (p.Leu463Arg)
|
|
|
NM_000080.4(CHRNE):c.189+1G>A
|
|
|
NM_000080.4(CHRNE):c.190-2A>G
|
|
|
NM_000080.4(CHRNE):c.235-2A>G
|
rs1597622118
|
|
NM_000080.4(CHRNE):c.345-1G>A
|
|
|
NM_000080.4(CHRNE):c.345-2A>G
|
|
|
NM_000080.4(CHRNE):c.345-2A>T
|
rs2151098412
|
|
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)
|
rs483353045
|
|
NM_000080.4(CHRNE):c.421C>G (p.Pro141Ala)
|
rs483353045
|
|
NM_000080.4(CHRNE):c.443G>A (p.Cys148Tyr)
|
|
|
NM_000080.4(CHRNE):c.46+1G>T
|
rs746199600
|
|
NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.497T>G (p.Phe166Cys)
|
|
|
NM_000080.4(CHRNE):c.500+2T>C
|
|
|
NM_000080.4(CHRNE):c.501-10_504dup
|
rs768552387
|
|
NM_000080.4(CHRNE):c.501-1G>C
|
|
|
NM_000080.4(CHRNE):c.529_531del (p.Glu177del)
|
rs779816027
|
|
NM_000080.4(CHRNE):c.583G>T (p.Asp195Tyr)
|
rs774425374
|
|
NM_000080.4(CHRNE):c.601+1G>T
|
|
|
NM_000080.4(CHRNE):c.602-1G>A
|
|
|
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln)
|
rs2151097307
|
|
NM_000080.4(CHRNE):c.764C>G (p.Ser255Trp)
|
|
|
NM_000080.4(CHRNE):c.803-1G>T
|
|
|
NM_000080.4(CHRNE):c.904C>G (p.Pro302Ala)
|
rs979787967
|
|
NM_000080.4(CHRNE):c.905C>T (p.Pro302Leu)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)
|
rs121909515
|
|
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)
|
rs760022829
|
|
NM_000747.3(CHRNB1):c.199-2A>C
|
|
|
NM_000747.3(CHRNB1):c.354-1G>A
|
rs1597749210
|
|
NM_000747.3(CHRNB1):c.58+1G>A
|
|
|
NM_000747.3(CHRNB1):c.611-1G>C
|
|
|
NM_000747.3(CHRNB1):c.757_820+135del
|
|
|
NM_000747.3(CHRNB1):c.854T>C (p.Leu285Pro)
|
rs2150842362
|
|
NM_001145536.2(C17orf107):c.*1010C>G
|
rs774425374
|
|
NM_001171613.2(PREPL):c.-48-2A>G
|
rs753545038
|
|
NM_001171613.2(PREPL):c.-48-2A>T
|
|
|
NM_001171613.2(PREPL):c.1086+2T>C
|
|
|
NM_001171613.2(PREPL):c.1753+2T>C
|
|
|
NM_001171613.2(PREPL):c.1827G>T (p.Lys609Asn)
|
|
|
NM_001171613.2(PREPL):c.350-1G>T
|
|
|
NM_001171613.2(PREPL):c.703-2A>G
|
rs2103914962
|
|
NM_001244710.2(GFPT1):c.1105+1G>A
|
rs1553389102
|
|
NM_001244710.2(GFPT1):c.1106-1G>T
|
rs1670970306
|
|
NM_001244710.2(GFPT1):c.408+5G>A
|
rs1558762013
|
|
NM_001382.4(DPAGT1):c.1005+1G>A
|
|
|
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)
|
rs387907243
|
|
NM_001382.4(DPAGT1):c.644-1G>T
|
rs2134903748
|
|
NM_002334.4(LRP4):c.1184-2A>G
|
|
|
NM_002334.4(LRP4):c.2507-1G>A
|
|
|
NM_002334.4(LRP4):c.3699+1G>A
|
|
|
NM_002334.4(LRP4):c.547+1G>A
|
rs762425885
|
|
NM_002334.4(LRP4):c.898G>A (p.Asp300Asn)
|
|
|
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)
|
|
|
NM_005055.5(RAPSN):c.193-5_201del
|
|
|
NM_005055.5(RAPSN):c.272G>A (p.Arg91His)
|
rs375218091
|
|
NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro)
|
rs375218091
|
|
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
|
|
|
NM_005055.5(RAPSN):c.691-1G>A
|
|
|
NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala)
|
rs374604570
|
|
NM_005055.5(RAPSN):c.911_912+1dup
|
rs2153308410
|
|
NM_005055.5(RAPSN):c.913-1G>C
|
|
|
NM_005055.5(RAPSN):c.966+1_966+2delinsAG
|
rs2153308170
|
|
NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)
|
|
|
NM_005592.4(MUSK):c.1184+2T>C
|
|
|
NM_005592.4(MUSK):c.1185-2A>G
|
|
|
NM_005592.4(MUSK):c.1360+1G>A
|
|
|
NM_005592.4(MUSK):c.1586+1G>A
|
|
|
NM_005592.4(MUSK):c.1778+1G>T
|
rs2132026515
|
|
NM_005592.4(MUSK):c.206+2T>C
|
|
|
NM_005592.4(MUSK):c.207-1G>A
|
|
|
NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe)
|
rs2078085499
|
|
NM_005592.4(MUSK):c.486+1G>C
|
rs1204788520
|
|
NM_005592.4(MUSK):c.754-1G>T
|
|
|
NM_005592.4(MUSK):c.754-2A>G
|
rs1587986079
|
|
NM_005592.4(MUSK):c.913+2T>C
|
|
|
NM_005592.4(MUSK):c.920+1G>A
|
|
|
NM_005677.4(COLQ):c.1026C>A (p.Asp342Glu)
|
|
|
NM_005677.4(COLQ):c.106+2_106+10del
|
|
|
NM_005677.4(COLQ):c.107-1G>A
|
rs1269227357
|
|
NM_005677.4(COLQ):c.176C>A (p.Pro59Gln)
|
|
|
NM_005677.4(COLQ):c.366+1G>C
|
rs2125123160
|
|
NM_005677.4(COLQ):c.393+1G>A
|
rs1085307792
|
|
NM_005677.4(COLQ):c.529-2A>G
|
rs755236236
|
|
NM_005677.4(COLQ):c.814+2T>C
|
rs1002244829
|
|
NM_020549.5(CHAT):c.1060A>T (p.Thr354Ser)
|
rs2132735749
|
|
NM_020549.5(CHAT):c.1282-2A>T
|
|
|
NM_020549.5(CHAT):c.1383-1G>A
|
rs2132811750
|
|
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)
|
rs121912818
|
|
NM_020549.5(CHAT):c.1663G>A (p.Glu555Lys)
|
rs757303526
|
|
NM_020549.5(CHAT):c.1678C>T (p.Arg560Cys)
|
|
|
NM_020549.5(CHAT):c.1721C>T (p.Thr574Ile)
|
rs1839995781
|
|
NM_020549.5(CHAT):c.1896_1918del (p.Ala633fs)
|
rs2132852540
|
|
NM_020549.5(CHAT):c.1977+1_1977+9del
|
rs1207292931
|
|
NM_020549.5(CHAT):c.698+1G>A
|
|
|
NM_020549.5(CHAT):c.698+1G>T
|
|
|
NM_020549.5(CHAT):c.698+2T>C
|
|
|
NM_020549.5(CHAT):c.753-2A>T
|
|
|
NM_033087.4(ALG2):c.1040del (p.Gly347fs)
|
rs387906281
|
|
NM_130811.4(SNAP25):c.508_528dup (p.Arg176_Gln177insGluIleAspThrGlnAsnArg)
|
|
|
NM_130811.4(SNAP25):c.542T>A (p.Ile181Asn)
|
|
|
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro)
|
rs2064355563
|
|
NM_130811.4(SNAP25):c.74C>T (p.Ser25Leu)
|
|
|
NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter)
|
rs544278158
|
|
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs)
|
rs797045040
|
|
NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)
|
|
|
NM_173660.5(DOK7):c.332-1G>A
|
rs1490214819
|
|
NM_173660.5(DOK7):c.332-1G>C
|
|
|
NM_173660.5(DOK7):c.332-1G>T
|
rs1490214819
|
|
NM_173660.5(DOK7):c.332-2A>G
|
|
|
NM_173660.5(DOK7):c.396C>G (p.His132Gln)
|
rs779798129
|
|
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
|
|
|
NM_173660.5(DOK7):c.415G>C (p.Val139Leu)
|
rs571769859
|
|
NM_173660.5(DOK7):c.533-159_641del
|
rs2109369117
|
|
NM_173660.5(DOK7):c.652+1dup
|
rs1727731607
|
|
NM_173660.5(DOK7):c.773-1G>C
|
|
|
NM_173660.5(DOK7):c.957dup (p.Lys320fs)
|
rs794727884
|
|
NM_198576.4(AGRN):c.1798+1G>T
|
|
|
NM_198576.4(AGRN):c.1799-1G>A
|
|
|
NM_198576.4(AGRN):c.226G>A (p.Gly76Ser)
|
rs756623659
|
|
NM_198576.4(AGRN):c.2371+1G>T
|
|
|
NM_198576.4(AGRN):c.3632-1G>C
|
|
|
NM_198576.4(AGRN):c.3632-2del
|
|
|
NM_198576.4(AGRN):c.464-2A>G
|
|
|
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe)
|
rs587777298
|
|
NM_198576.4(AGRN):c.5876+1G>A
|
rs532386334
|
|
NM_198576.4(AGRN):c.952+1_952+3del
|
|
|