NM_015346.4(ZFYVE26):c.3139+1G>A
|
rs137907310
|
0.00006
|
NM_001128126.3(AP4S1):c.138+1G>A
|
rs200033849
|
0.00004
|
NM_015346.4(ZFYVE26):c.274-2A>G
|
rs769329153
|
0.00002
|
NM_015346.4(ZFYVE26):c.3139+2T>G
|
rs767164213
|
0.00002
|
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)
|
rs367665974
|
0.00001
|
NM_001478.5(B4GALNT1):c.383+1G>A
|
rs371013292
|
0.00001
|
NM_004984.4(KIF5A):c.802G>A (p.Ala268Thr)
|
rs139015012
|
0.00001
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
NM_015346.4(ZFYVE26):c.1017+1G>T
|
rs1224762841
|
0.00001
|
NM_015346.4(ZFYVE26):c.3020-2A>G
|
rs1470672632
|
0.00001
|
NM_015346.4(ZFYVE26):c.5622-2A>G
|
rs1272228031
|
0.00001
|
NM_020944.3(GBA2):c.1582+2T>G
|
rs941656065
|
0.00001
|
NM_024306.5(FA2H):c.691T>C (p.Tyr231His)
|
rs878855081
|
0.00001
|
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser)
|
rs766889023
|
0.00001
|
NC_000004.11:g.(?_108853015)_(108855427_?)del
|
|
|
NC_000013.11:g.(?_23353775)_(23358491_?)del
|
|
|
NC_000014.8:g.(?_68251766)_(68260966_?)del
|
|
|
NM_001128126.3(AP4S1):c.226-2A>G
|
rs2139067616
|
|
NM_001128126.3(AP4S1):c.2T>C (p.Met1Thr)
|
rs755820725
|
|
NM_001278116.2(L1CAM):c.1380-2A>T
|
|
|
NM_001278116.2(L1CAM):c.1702_1703+14del
|
rs1603275315
|
|
NM_001278116.2(L1CAM):c.1703+1G>A
|
rs2148496455
|
|
NM_001278116.2(L1CAM):c.1940-1G>A
|
rs2148495739
|
|
NM_001278116.2(L1CAM):c.2137+1G>A
|
rs1557091278
|
|
NM_001278116.2(L1CAM):c.2547+2T>G
|
|
|
NM_001278116.2(L1CAM):c.3046+1G>C
|
rs1557090220
|
|
NM_001278116.2(L1CAM):c.3046+1G>T
|
|
|
NM_001278116.2(L1CAM):c.3167-2A>G
|
|
|
NM_001278116.2(L1CAM):c.401-1G>A
|
rs2064766332
|
|
NM_001278116.2(L1CAM):c.473G>A (p.Cys158Tyr)
|
rs1603276234
|
|
NM_001278116.2(L1CAM):c.476_524-42delinsGAA
|
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
NM_001278116.2(L1CAM):c.806+5G>A
|
rs878853979
|
|
NM_001278116.2(L1CAM):c.92-1G>A
|
|
|
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg)
|
rs1064793162
|
|
NM_001478.5(B4GALNT1):c.532-2A>G
|
rs1885117995
|
|
NM_001478.5(B4GALNT1):c.712+1G>A
|
|
|
NM_001478.5(B4GALNT1):c.811+38_903del
|
|
|
NM_004187.5(KDM5C):c.1243-2A>G
|
rs1569274606
|
|
NM_004187.5(KDM5C):c.150+1G>A
|
|
|
NM_004187.5(KDM5C):c.1747-2A>T
|
|
|
NM_004187.5(KDM5C):c.1866+1G>A
|
rs2146867849
|
|
NM_004187.5(KDM5C):c.1A>G (p.Met1Val)
|
rs1569285562
|
|
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp)
|
rs2146851322
|
|
NM_004187.5(KDM5C):c.2981+1G>A
|
|
|
NM_004187.5(KDM5C):c.781+1G>A
|
|
|
NM_004820.5(CYP7B1):c.1057+1G>A
|
|
|
NM_004820.5(CYP7B1):c.1202A>G (p.His401Arg)
|
rs1467815062
|
|
NM_004820.5(CYP7B1):c.122+1G>C
|
|
|
NM_004820.5(CYP7B1):c.122+1G>T
|
|
|
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs)
|
rs776075679
|
|
NM_004820.5(CYP7B1):c.260-1G>A
|
rs1385678413
|
|
NM_004820.5(CYP7B1):c.788T>G (p.Val263Gly)
|
|
|
NM_004984.4(KIF5A):c.1905+2_1905+3delinsGC
|
|
|
NM_004984.4(KIF5A):c.2756-2A>G
|
|
|
NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly)
|
rs1555179087
|
|
NM_004984.4(KIF5A):c.3020+1G>T
|
rs1555179091
|
|
NM_004984.4(KIF5A):c.3020G>A (p.Arg1007Lys)
|
rs1060502523
|
|
NM_004984.4(KIF5A):c.466G>A (p.Val156Met)
|
|
|
NM_004984.4(KIF5A):c.611G>T (p.Arg204Leu)
|
|
|
NM_004984.4(KIF5A):c.839G>C (p.Arg280Pro)
|
|
|
NM_004984.4(KIF5A):c.969-1G>C
|
rs1882179247
|
|
NM_005619.5(RTN2):c.1380+1G>T
|
rs1968087179
|
|
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn)
|
rs2147871878
|
|
NM_006517.5(SLC16A2):c.576-1G>A
|
rs886042238
|
|
NM_007175.8(ERLIN2):c.187C>A (p.Gln63Lys)
|
rs1802811311
|
|
NM_007175.8(ERLIN2):c.207T>G (p.Asp69Glu)
|
|
|
NM_007175.8(ERLIN2):c.237-2A>G
|
rs751227210
|
|
NM_007175.8(ERLIN2):c.532G>A (p.Ala178Thr)
|
|
|
NM_007347.5(AP4E1):c.420+1G>T
|
|
|
NM_014231.5(VAMP1):c.340del (p.Ile114fs)
|
rs746220436
|
|
NM_014363.6(SACS):c.11166_11167del (p.Ser3722fs)
|
rs1883566609
|
|
NM_014363.6(SACS):c.11467C>A (p.Pro3823Thr)
|
rs1883537654
|
|
NM_014363.6(SACS):c.11907_11930delinsA (p.Arg3970fs)
|
rs1593121507
|
|
NM_014363.6(SACS):c.13009C>G (p.His4337Asp)
|
rs1555249362
|
|
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)
|
rs1057517123
|
|
NM_014363.6(SACS):c.13352T>C (p.Leu4451Pro)
|
|
|
NM_014363.6(SACS):c.13391A>T (p.Asp4464Val)
|
rs1883393913
|
|
NM_014363.6(SACS):c.171+1_171+18del
|
|
|
NM_014363.6(SACS):c.21-2A>G
|
|
|
NM_014363.6(SACS):c.458-2A>C
|
rs2137743517
|
|
NM_014363.6(SACS):c.4744G>C (p.Asp1582His)
|
|
|
NM_014363.6(SACS):c.4934G>A (p.Arg1645Gln)
|
|
|
NM_014363.6(SACS):c.604+1G>A
|
rs1555254734
|
|
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln)
|
rs1868700605
|
|
NM_014363.6(SACS):c.7918T>C (p.Ser2640Pro)
|
rs2137596408
|
|
NM_015346.4(ZFYVE26):c.1436-1G>A
|
rs545219731
|
|
NM_015346.4(ZFYVE26):c.1639+1G>T
|
|
|
NM_015346.4(ZFYVE26):c.2332+1G>C
|
|
|
NM_015346.4(ZFYVE26):c.2401+2T>C
|
|
|
NM_015346.4(ZFYVE26):c.2553+1G>T
|
|
|
NM_015346.4(ZFYVE26):c.2554-1G>C
|
rs760559263
|
|
NM_015346.4(ZFYVE26):c.2554-2A>G
|
rs1186788102
|
|
NM_015346.4(ZFYVE26):c.2753_2755+5del
|
|
|
NM_015346.4(ZFYVE26):c.2756-1G>A
|
rs2039758874
|
|
NM_015346.4(ZFYVE26):c.3139+1G>T
|
rs137907310
|
|
NM_015346.4(ZFYVE26):c.3523+2T>C
|
|
|
NM_015346.4(ZFYVE26):c.3524-1G>C
|
rs2140225441
|
|
NM_015346.4(ZFYVE26):c.3524-2A>G
|
rs1555397331
|
|
NM_015346.4(ZFYVE26):c.4372+1_4372+3del
|
rs1555396965
|
|
NM_015346.4(ZFYVE26):c.4674+2T>C
|
|
|
NM_015346.4(ZFYVE26):c.4675-2A>G
|
|
|
NM_015346.4(ZFYVE26):c.4797+2T>G
|
rs2140215645
|
|
NM_015346.4(ZFYVE26):c.4798-1G>A
|
rs1555396303
|
|
NM_015346.4(ZFYVE26):c.5222-1G>A
|
rs2039307447
|
|
NM_015346.4(ZFYVE26):c.5485-1del
|
rs878855013
|
|
NM_015346.4(ZFYVE26):c.5654-1G>A
|
|
|
NM_015346.4(ZFYVE26):c.5790+1G>A
|
rs1340106074
|
|
NM_015346.4(ZFYVE26):c.5791-2A>G
|
|
|
NM_015346.4(ZFYVE26):c.6012-1G>A
|
|
|
NM_015346.4(ZFYVE26):c.6159+1G>A
|
rs896655703
|
|
NM_015346.4(ZFYVE26):c.6160-2A>C
|
|
|
NM_015346.4(ZFYVE26):c.6369+1G>A
|
rs1197046699
|
|
NM_015346.4(ZFYVE26):c.6786+1G>T
|
|
|
NM_015346.4(ZFYVE26):c.6987-1G>A
|
rs1555393393
|
|
NM_015346.4(ZFYVE26):c.7188+1G>A
|
rs1555393338
|
|
NM_015346.4(ZFYVE26):c.7188+1G>T
|
rs1555393338
|
|
NM_015346.4(ZFYVE26):c.886+1G>T
|
rs752618765
|
|
NM_015346.4(ZFYVE26):c.887-1G>C
|
|
|
NM_020435.4(GJC2):c.141C>G (p.Tyr47Ter)
|
rs1553262438
|
|
NM_020435.4(GJC2):c.85_86dup (p.Val30fs)
|
rs1558119445
|
|
NM_020944.3(GBA2):c.1129+1G>C
|
rs2131972800
|
|
NM_020944.3(GBA2):c.2636G>A (p.Arg879Gln)
|
rs1588001500
|
|
NM_020944.3(GBA2):c.515G>T (p.Arg172Leu)
|
rs200268523
|
|
NM_024306.5(FA2H):c.340_363+8del
|
rs1597556143
|
|
NM_024306.5(FA2H):c.506+1G>C
|
rs753097023
|
|
NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln)
|
rs762873672
|
|
NM_183075.3(CYP2U1):c.946G>C (p.Asp316His)
|
rs766970458
|
|