NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu)
|
rs148817957
|
0.00109
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp)
|
rs142883889
|
0.00081
|
NM_001012301.4(ARSI):c.1114G>A (p.Asp372Asn)
|
rs150211860
|
0.00068
|
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr)
|
rs138965635
|
0.00056
|
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)
|
rs145152682
|
0.00054
|
NM_183075.3(CYP2U1):c.1397G>A (p.Arg466Gln)
|
rs143952943
|
0.00054
|
NM_007347.5(AP4E1):c.613C>A (p.His205Asn)
|
rs148499164
|
0.00052
|
NM_001478.5(B4GALNT1):c.728A>G (p.Glu243Gly)
|
rs149670131
|
0.00051
|
NM_020944.3(GBA2):c.2220C>A (p.Ser740Arg)
|
rs200894732
|
0.00051
|
NM_020435.4(GJC2):c.1123G>A (p.Val375Ile)
|
rs554468010
|
0.00050
|
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)
|
rs146968463
|
0.00045
|
NM_015346.4(ZFYVE26):c.6448C>T (p.Pro2150Ser)
|
rs138423670
|
0.00042
|
NM_001012301.4(ARSI):c.1502C>T (p.Pro501Leu)
|
rs138543631
|
0.00039
|
NM_015346.4(ZFYVE26):c.2300G>A (p.Arg767His)
|
rs146290086
|
0.00037
|
NM_015346.4(ZFYVE26):c.3847A>G (p.Thr1283Ala)
|
rs116139296
|
0.00036
|
NM_015346.4(ZFYVE26):c.6649C>G (p.Leu2217Val)
|
rs149104493
|
0.00036
|
NM_002156.5(HSPD1):c.551A>G (p.Asn184Ser)
|
rs67967266
|
0.00035
|
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)
|
rs142215198
|
0.00034
|
NM_004733.4(SLC33A1):c.370C>T (p.Leu124Phe)
|
rs141818342
|
0.00033
|
NM_007347.5(AP4E1):c.1586C>T (p.Thr529Met)
|
rs200110517
|
0.00032
|
NM_015346.4(ZFYVE26):c.3950C>T (p.Thr1317Met)
|
rs143719747
|
0.00031
|
NM_015346.4(ZFYVE26):c.3967G>T (p.Ala1323Ser)
|
rs137913651
|
0.00031
|
NM_004733.4(SLC33A1):c.400G>C (p.Val134Leu)
|
rs148175458
|
0.00029
|
NM_001478.5(B4GALNT1):c.380C>T (p.Ser127Leu)
|
rs141063083
|
0.00028
|
NM_001012301.4(ARSI):c.1544T>G (p.Phe515Cys)
|
rs145878553
|
0.00027
|
NM_007347.5(AP4E1):c.257A>G (p.Tyr86Cys)
|
rs138138484
|
0.00026
|
NM_001128126.3(AP4S1):c.133G>A (p.Glu45Lys)
|
rs377744052
|
0.00025
|
NM_001478.5(B4GALNT1):c.754C>T (p.Arg252Cys)
|
rs368334961
|
0.00025
|
NM_004733.4(SLC33A1):c.1498G>T (p.Gly500Cys)
|
rs528636548
|
0.00025
|
NM_001478.5(B4GALNT1):c.1204G>A (p.Val402Met)
|
rs377044701
|
0.00024
|
NM_015346.4(ZFYVE26):c.6T>A (p.Asn2Lys)
|
rs150603522
|
0.00024
|
NM_015346.4(ZFYVE26):c.7150G>A (p.Val2384Ile)
|
rs193074768
|
0.00024
|
NM_020944.3(GBA2):c.1357G>A (p.Ala453Thr)
|
rs145802357
|
0.00024
|
NM_001012301.4(ARSI):c.779G>A (p.Arg260Gln)
|
rs533440544
|
0.00022
|
NM_004820.5(CYP7B1):c.1371G>A (p.Met457Ile)
|
rs771055759
|
0.00021
|
NM_020435.4(GJC2):c.1150C>T (p.Pro384Ser)
|
rs535282333
|
0.00020
|
NM_001012301.4(ARSI):c.1631G>A (p.Arg544His)
|
rs763136370
|
0.00019
|
NM_001012301.4(ARSI):c.379G>A (p.Asp127Asn)
|
rs201857076
|
0.00019
|
NM_001478.5(B4GALNT1):c.1048A>G (p.Lys350Glu)
|
rs144643461
|
0.00019
|
NM_007347.5(AP4E1):c.1951C>G (p.Leu651Val)
|
rs148555464
|
0.00019
|
NM_020944.3(GBA2):c.2609G>A (p.Arg870Gln)
|
rs199510198
|
0.00019
|
NM_001478.5(B4GALNT1):c.767C>T (p.Pro256Leu)
|
rs200510000
|
0.00018
|
NM_004733.4(SLC33A1):c.1006G>A (p.Val336Ile)
|
rs759509587
|
0.00018
|
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile)
|
rs201273304
|
0.00018
|
NM_020435.4(GJC2):c.1254_1256del (p.Lys418_Pro419delinsAsn)
|
rs773338759
|
0.00018
|
NM_020435.4(GJC2):c.1258A>G (p.Arg420Gly)
|
rs745978138
|
0.00018
|
NM_007347.5(AP4E1):c.2401G>A (p.Glu801Lys)
|
rs556450190
|
0.00017
|
NM_020944.3(GBA2):c.1561G>A (p.Gly521Ser)
|
rs371611090
|
0.00017
|
NM_020944.3(GBA2):c.806G>C (p.Gly269Ala)
|
rs373010940
|
0.00017
|
NM_001385875.1(ZFYVE27):c.149A>G (p.Tyr50Cys)
|
rs199548555
|
0.00016
|
NM_004820.5(CYP7B1):c.350A>C (p.Lys117Thr)
|
rs138977616
|
0.00016
|
NM_004820.5(CYP7B1):c.929G>A (p.Arg310Gln)
|
rs201867790
|
0.00016
|
NM_020944.3(GBA2):c.2197+3G>A
|
rs373784058
|
0.00016
|
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)
|
rs201387324
|
0.00015
|
NM_015346.4(ZFYVE26):c.3662T>A (p.Leu1221Gln)
|
rs554371710
|
0.00015
|
NM_020944.3(GBA2):c.659G>A (p.Gly220Asp)
|
rs145436860
|
0.00015
|
NM_001012301.4(ARSI):c.1258C>T (p.Arg420Cys)
|
rs201427501
|
0.00014
|
NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His)
|
rs755729966
|
0.00014
|
NM_007175.8(ERLIN2):c.819+3A>G
|
rs377704533
|
0.00014
|
NM_007347.5(AP4E1):c.1461A>T (p.Leu487Phe)
|
rs774800945
|
0.00014
|
NM_007347.5(AP4E1):c.3314G>A (p.Arg1105Gln)
|
rs139640763
|
0.00014
|
NM_015346.4(ZFYVE26):c.1482C>A (p.Asn494Lys)
|
rs559473389
|
0.00014
|
NM_015346.4(ZFYVE26):c.3802C>T (p.Leu1268Phe)
|
rs202021708
|
0.00014
|
NM_015346.4(ZFYVE26):c.5927C>T (p.Thr1976Met)
|
rs149744465
|
0.00014
|
NM_183075.3(CYP2U1):c.515C>T (p.Pro172Leu)
|
rs751459304
|
0.00014
|
NM_020944.3(GBA2):c.1495G>A (p.Glu499Lys)
|
rs35818148
|
0.00013
|
NM_001385875.1(ZFYVE27):c.53T>C (p.Met18Thr)
|
rs769322350
|
0.00012
|
NM_015346.4(ZFYVE26):c.5714C>G (p.Ala1905Gly)
|
rs117250367
|
0.00012
|
NM_001385875.1(ZFYVE27):c.415C>T (p.Arg139Cys)
|
rs369972013
|
0.00011
|
NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser)
|
rs149003485
|
0.00011
|
NM_004820.5(CYP7B1):c.1018C>T (p.His340Tyr)
|
rs757698965
|
0.00011
|
NM_005619.5(RTN2):c.385A>T (p.Thr129Ser)
|
rs147152016
|
0.00011
|
NM_007347.5(AP4E1):c.1105A>C (p.Thr369Pro)
|
rs149682827
|
0.00011
|
NM_015346.4(ZFYVE26):c.5321-3C>T
|
rs376234357
|
0.00011
|
NM_015346.4(ZFYVE26):c.7399C>T (p.His2467Tyr)
|
rs374750011
|
0.00011
|
NM_015346.4(ZFYVE26):c.961A>C (p.Lys321Gln)
|
rs375820273
|
0.00011
|
NM_020435.4(GJC2):c.1137G>A (p.Ala379=)
|
rs770713772
|
0.00011
|
NM_183075.3(CYP2U1):c.235C>G (p.Pro79Ala)
|
rs768868832
|
0.00011
|
NM_183075.3(CYP2U1):c.358T>C (p.Phe120Leu)
|
rs763896315
|
0.00011
|
NM_183075.3(CYP2U1):c.425A>T (p.Gln142Leu)
|
rs140010604
|
0.00011
|
NM_001478.5(B4GALNT1):c.601G>C (p.Glu201Gln)
|
rs546888005
|
0.00010
|
NM_004733.4(SLC33A1):c.1505C>T (p.Ser502Leu)
|
rs149578822
|
0.00010
|
NM_004820.5(CYP7B1):c.101G>A (p.Cys34Tyr)
|
rs1031580133
|
0.00010
|
NM_004820.5(CYP7B1):c.1507A>G (p.Lys503Glu)
|
rs886043568
|
0.00010
|
NM_004820.5(CYP7B1):c.850+5G>C
|
rs202155727
|
0.00010
|
NM_015346.4(ZFYVE26):c.7128+4C>T
|
rs374198908
|
0.00010
|
NM_020435.4(GJC2):c.1082G>T (p.Gly361Val)
|
rs1372028650
|
0.00010
|
NM_020435.4(GJC2):c.87G>A (p.Thr29=)
|
rs781315856
|
0.00010
|
NM_020944.3(GBA2):c.1093G>A (p.Asp365Asn)
|
rs201219745
|
0.00010
|
NM_001012301.4(ARSI):c.646G>A (p.Ala216Thr)
|
rs757449885
|
0.00009
|
NM_001012301.4(ARSI):c.64T>C (p.Trp22Arg)
|
rs759441290
|
0.00009
|
NM_001128126.3(AP4S1):c.83G>A (p.Arg28His)
|
rs201972703
|
0.00009
|
NM_001478.5(B4GALNT1):c.1545G>A (p.Met515Ile)
|
rs144984608
|
0.00009
|
NM_004733.4(SLC33A1):c.1559T>C (p.Ile520Thr)
|
rs777143987
|
0.00009
|
NM_005619.5(RTN2):c.1210G>A (p.Val404Met)
|
rs200512597
|
0.00009
|
NM_007347.5(AP4E1):c.1291G>A (p.Gly431Ser)
|
rs147638518
|
0.00009
|
NM_007347.5(AP4E1):c.2450C>T (p.Ser817Phe)
|
rs376025300
|
0.00009
|
NM_007347.5(AP4E1):c.932A>G (p.Asn311Ser)
|
rs536656846
|
0.00009
|
NM_015346.4(ZFYVE26):c.260T>C (p.Leu87Ser)
|
rs192944386
|
0.00009
|
NM_015346.4(ZFYVE26):c.5834G>A (p.Arg1945Gln)
|
rs200595749
|
0.00009
|
NM_015346.4(ZFYVE26):c.6329T>C (p.Val2110Ala)
|
rs754170372
|
0.00009
|
NM_015346.4(ZFYVE26):c.646G>A (p.Asp216Asn)
|
rs562335179
|
0.00009
|
NM_015346.4(ZFYVE26):c.730C>A (p.Leu244Ile)
|
rs148790248
|
0.00009
|
NM_015346.4(ZFYVE26):c.863C>T (p.Pro288Leu)
|
rs369243775
|
0.00009
|
NM_001012301.4(ARSI):c.848G>A (p.Arg283His)
|
rs149948064
|
0.00008
|
NM_004820.5(CYP7B1):c.11A>T (p.Glu4Val)
|
rs754875085
|
0.00008
|
NM_007347.5(AP4E1):c.1031T>G (p.Phe344Cys)
|
rs756542785
|
0.00008
|
NM_007347.5(AP4E1):c.1424C>T (p.Ala475Val)
|
rs200678853
|
0.00008
|
NM_015346.4(ZFYVE26):c.4293G>C (p.Gln1431His)
|
rs373740172
|
0.00008
|
NM_015346.4(ZFYVE26):c.7358G>C (p.Arg2453Thr)
|
rs767313762
|
0.00008
|
NM_015346.4(ZFYVE26):c.914G>A (p.Arg305Gln)
|
rs201954314
|
0.00008
|
NM_020944.3(GBA2):c.2563C>T (p.Arg855Cys)
|
rs374335041
|
0.00008
|
NM_183075.3(CYP2U1):c.1414G>A (p.Gly472Arg)
|
rs147277678
|
0.00008
|
NM_004733.4(SLC33A1):c.850G>A (p.Val284Ile)
|
rs377484298
|
0.00007
|
NM_004820.5(CYP7B1):c.125G>A (p.Arg42Lys)
|
rs375384257
|
0.00007
|
NM_007347.5(AP4E1):c.1757T>C (p.Met586Thr)
|
rs139022614
|
0.00007
|
NM_014231.5(VAMP1):c.19C>T (p.Pro7Ser)
|
rs773396496
|
0.00007
|
NM_015346.4(ZFYVE26):c.2084A>G (p.Gln695Arg)
|
rs774454090
|
0.00007
|
NM_015346.4(ZFYVE26):c.541G>A (p.Gly181Ser)
|
rs140211588
|
0.00007
|
NM_015346.4(ZFYVE26):c.6247C>T (p.Arg2083Trp)
|
rs771396332
|
0.00007
|
NM_015346.4(ZFYVE26):c.7416+6C>T
|
rs371196543
|
0.00007
|
NM_015346.4(ZFYVE26):c.763C>T (p.Arg255Trp)
|
rs267604034
|
0.00007
|
NM_020944.3(GBA2):c.2055T>C (p.Ser685=)
|
rs202088139
|
0.00007
|
NM_183075.3(CYP2U1):c.671T>C (p.Ile224Thr)
|
rs139692261
|
0.00007
|
NM_001128126.3(AP4S1):c.290G>A (p.Arg97Gln)
|
rs183487893
|
0.00006
|
NM_001128126.3(AP4S1):c.82C>T (p.Arg28Cys)
|
rs112987601
|
0.00006
|
NM_001278116.2(L1CAM):c.992-3C>T
|
rs201734187
|
0.00006
|
NM_001385875.1(ZFYVE27):c.1236A>G (p.Ter412Trp)
|
rs140695712
|
0.00006
|
NM_001385875.1(ZFYVE27):c.557A>G (p.Tyr186Cys)
|
rs575306476
|
0.00006
|
NM_001385875.1(ZFYVE27):c.917C>T (p.Pro306Leu)
|
rs758158502
|
0.00006
|
NM_001478.5(B4GALNT1):c.326C>A (p.Ala109Glu)
|
rs575817773
|
0.00006
|
NM_001478.5(B4GALNT1):c.877C>T (p.Arg293Trp)
|
rs769436121
|
0.00006
|
NM_004733.4(SLC33A1):c.1579T>G (p.Phe527Val)
|
rs200914930
|
0.00006
|
NM_004820.5(CYP7B1):c.1132C>G (p.Leu378Val)
|
rs766368787
|
0.00006
|
NM_004820.5(CYP7B1):c.1147G>A (p.Gly383Arg)
|
rs747144103
|
0.00006
|
NM_004820.5(CYP7B1):c.629G>A (p.Ser210Asn)
|
rs886044713
|
0.00006
|
NM_005619.5(RTN2):c.110T>G (p.Leu37Arg)
|
rs369180811
|
0.00006
|
NM_005619.5(RTN2):c.1618T>C (p.Ser540Pro)
|
rs779865623
|
0.00006
|
NM_007347.5(AP4E1):c.133G>A (p.Ala45Thr)
|
rs151135245
|
0.00006
|
NM_007347.5(AP4E1):c.2813A>G (p.Asp938Gly)
|
rs372620158
|
0.00006
|
NM_007347.5(AP4E1):c.3118G>A (p.Asp1040Asn)
|
rs368578986
|
0.00006
|
NM_014363.6(SACS):c.432G>T (p.Trp144Cys)
|
rs368570790
|
0.00006
|
NM_015346.4(ZFYVE26):c.1193G>A (p.Cys398Tyr)
|
rs148051385
|
0.00006
|
NM_015346.4(ZFYVE26):c.2264G>A (p.Arg755Gln)
|
rs772679356
|
0.00006
|
NM_015346.4(ZFYVE26):c.2585C>G (p.Pro862Arg)
|
rs138050875
|
0.00006
|
NM_015346.4(ZFYVE26):c.3404A>G (p.Gln1135Arg)
|
rs773669036
|
0.00006
|
NM_015346.4(ZFYVE26):c.3851T>C (p.Leu1284Ser)
|
rs1458593767
|
0.00006
|
NM_015346.4(ZFYVE26):c.3973C>T (p.Pro1325Ser)
|
rs150637611
|
0.00006
|
NM_015346.4(ZFYVE26):c.4547C>T (p.Ala1516Val)
|
rs768593489
|
0.00006
|
NM_015346.4(ZFYVE26):c.5320G>A (p.Gly1774Ser)
|
rs372819280
|
0.00006
|
NM_015346.4(ZFYVE26):c.5768G>A (p.Arg1923Gln)
|
rs199497582
|
0.00006
|
NM_015346.4(ZFYVE26):c.605G>A (p.Arg202Gln)
|
rs752239666
|
0.00006
|
NM_015346.4(ZFYVE26):c.827G>A (p.Gly276Asp)
|
rs201273988
|
0.00006
|
NM_020435.4(GJC2):c.302G>T (p.Arg101Leu)
|
rs375288744
|
0.00006
|
NM_020944.3(GBA2):c.1540C>T (p.Arg514Cys)
|
rs115051365
|
0.00006
|
NM_020944.3(GBA2):c.2161C>T (p.Arg721Trp)
|
rs750088946
|
0.00006
|
NM_020944.3(GBA2):c.266G>C (p.Cys89Ser)
|
rs143885818
|
0.00006
|
NM_020944.3(GBA2):c.379C>T (p.Arg127Trp)
|
rs377217110
|
0.00006
|
NM_183075.3(CYP2U1):c.979G>C (p.Glu327Gln)
|
rs767970725
|
0.00006
|
NM_001385875.1(ZFYVE27):c.1091G>A (p.Arg364Gln)
|
rs371277197
|
0.00005
|
NM_002156.5(HSPD1):c.662G>A (p.Arg221Gln)
|
rs140261894
|
0.00005
|
NM_004187.5(KDM5C):c.4631C>T (p.Thr1544Ile)
|
rs782529520
|
0.00005
|
NM_004820.5(CYP7B1):c.1100C>T (p.Thr367Ile)
|
rs999676674
|
0.00005
|
NM_005619.5(RTN2):c.1411G>A (p.Val471Met)
|
rs138355894
|
0.00005
|
NM_005619.5(RTN2):c.536T>C (p.Leu179Ser)
|
rs561232438
|
0.00005
|
NM_007347.5(AP4E1):c.1216A>G (p.Ile406Val)
|
rs371779124
|
0.00005
|
NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser)
|
rs150743968
|
0.00005
|
NM_007347.5(AP4E1):c.2437A>G (p.Met813Val)
|
rs779094838
|
0.00005
|
NM_007347.5(AP4E1):c.560A>G (p.Lys187Arg)
|
rs575755450
|
0.00005
|
NM_007347.5(AP4E1):c.992C>T (p.Ser331Leu)
|
rs199740395
|
0.00005
|
NM_014231.5(VAMP1):c.335T>C (p.Ile112Thr)
|
rs776075796
|
0.00005
|
NM_015346.4(ZFYVE26):c.1214C>G (p.Ala405Gly)
|
rs767366135
|
0.00005
|
NM_015346.4(ZFYVE26):c.2010C>G (p.His670Gln)
|
rs749925808
|
0.00005
|
NM_020435.4(GJC2):c.1019C>T (p.Ala340Val)
|
rs752282539
|
0.00005
|
NM_020435.4(GJC2):c.418G>A (p.Asp140Asn)
|
rs563631405
|
0.00005
|
NM_020944.3(GBA2):c.2425G>A (p.Val809Ile)
|
rs778985234
|
0.00005
|
NM_020944.3(GBA2):c.752G>A (p.Arg251His)
|
rs769204863
|
0.00005
|
NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys)
|
rs758814013
|
0.00005
|
NM_183075.3(CYP2U1):c.1630A>T (p.Arg544Ter)
|
rs772136947
|
0.00005
|
NM_001012301.4(ARSI):c.1142G>A (p.Arg381Gln)
|
rs140998209
|
0.00004
|
NM_001012301.4(ARSI):c.1610G>A (p.Arg537Gln)
|
rs202078693
|
0.00004
|
NM_001012301.4(ARSI):c.460C>T (p.Arg154Trp)
|
rs768276620
|
0.00004
|
NM_001478.5(B4GALNT1):c.254G>T (p.Ser85Ile)
|
rs199725482
|
0.00004
|
NM_001478.5(B4GALNT1):c.431C>T (p.Pro144Leu)
|
rs370194213
|
0.00004
|
NM_001478.5(B4GALNT1):c.958G>A (p.Val320Ile)
|
rs149358222
|
0.00004
|
NM_002156.5(HSPD1):c.574A>G (p.Lys192Glu)
|
rs747860040
|
0.00004
|
NM_004733.4(SLC33A1):c.1642A>G (p.Asn548Asp)
|
rs767949889
|
0.00004
|
NM_004820.5(CYP7B1):c.515C>A (p.Thr172Asn)
|
rs569241534
|
0.00004
|
NM_004820.5(CYP7B1):c.613A>C (p.Asn205His)
|
rs137880436
|
0.00004
|
NM_004820.5(CYP7B1):c.832G>A (p.Glu278Lys)
|
rs751907012
|
0.00004
|
NM_004820.5(CYP7B1):c.928C>T (p.Arg310Trp)
|
rs746439960
|
0.00004
|
NM_004984.4(KIF5A):c.1283T>G (p.Leu428Arg)
|
rs370132723
|
0.00004
|
NM_005619.5(RTN2):c.399C>A (p.Ser133=)
|
rs138223572
|
0.00004
|
NM_006517.5(SLC16A2):c.572C>G (p.Thr191Ser)
|
rs375483786
|
0.00004
|
NM_007347.5(AP4E1):c.1936C>T (p.Arg646Cys)
|
rs199542290
|
0.00004
|
NM_007347.5(AP4E1):c.203C>T (p.Ser68Phe)
|
rs758719313
|
0.00004
|
NM_007347.5(AP4E1):c.2258T>C (p.Val753Ala)
|
rs757157711
|
0.00004
|
NM_007347.5(AP4E1):c.2702C>T (p.Ser901Phe)
|
rs757562999
|
0.00004
|
NM_007347.5(AP4E1):c.2740A>C (p.Ile914Leu)
|
rs755478140
|
0.00004
|
NM_007347.5(AP4E1):c.67G>C (p.Gly23Arg)
|
rs373684336
|
0.00004
|
NM_014363.6(SACS):c.13732A>T (p.Lys4578Ter)
|
rs916523887
|
0.00004
|
NM_014363.6(SACS):c.346-3T>A
|
rs186506382
|
0.00004
|
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys)
|
rs764516788
|
0.00004
|
NM_015346.4(ZFYVE26):c.1387C>T (p.Leu463Phe)
|
rs556064894
|
0.00004
|
NM_015346.4(ZFYVE26):c.1511T>C (p.Met504Thr)
|
rs752693745
|
0.00004
|
NM_015346.4(ZFYVE26):c.1526A>G (p.Tyr509Cys)
|
rs767673365
|
0.00004
|
NM_015346.4(ZFYVE26):c.2386A>G (p.Ser796Gly)
|
rs140061219
|
0.00004
|
NM_015346.4(ZFYVE26):c.3435C>T (p.Gly1145=)
|
rs756973332
|
0.00004
|
NM_015346.4(ZFYVE26):c.416A>G (p.Asn139Ser)
|
rs754388575
|
0.00004
|
NM_015346.4(ZFYVE26):c.4694A>G (p.Glu1565Gly)
|
rs759468816
|
0.00004
|
NM_015346.4(ZFYVE26):c.5716G>A (p.Asp1906Asn)
|
rs753330080
|
0.00004
|
NM_015346.4(ZFYVE26):c.6194C>T (p.Ala2065Val)
|
rs200312607
|
0.00004
|
NM_015346.4(ZFYVE26):c.6560G>A (p.Arg2187Gln)
|
rs151306544
|
0.00004
|
NM_015346.4(ZFYVE26):c.7042G>A (p.Glu2348Lys)
|
rs762690743
|
0.00004
|
NM_015346.4(ZFYVE26):c.806G>A (p.Arg269Gln)
|
rs553573718
|
0.00004
|
NM_020435.4(GJC2):c.1066C>A (p.Gln356Lys)
|
rs146841026
|
0.00004
|
NM_020435.4(GJC2):c.35T>C (p.Leu12Pro)
|
rs765598965
|
0.00004
|
NM_020944.3(GBA2):c.1301T>A (p.Phe434Tyr)
|
rs372379752
|
0.00004
|
NM_020944.3(GBA2):c.1436C>T (p.Ala479Val)
|
rs373844114
|
0.00004
|
NM_020944.3(GBA2):c.1816G>A (p.Val606Ile)
|
rs754032114
|
0.00004
|
NM_020944.3(GBA2):c.1988A>T (p.Asp663Val)
|
rs542233713
|
0.00004
|
NM_020944.3(GBA2):c.2228G>A (p.Arg743Gln)
|
rs201520272
|
0.00004
|
NM_020944.3(GBA2):c.481A>G (p.Thr161Ala)
|
rs778928893
|
0.00004
|
NM_020944.3(GBA2):c.746C>T (p.Thr249Ile)
|
rs370954241
|
0.00004
|
NM_020944.3(GBA2):c.941G>A (p.Arg314His)
|
rs371758545
|
0.00004
|
NM_020944.3(GBA2):c.959G>A (p.Arg320Gln)
|
rs368192956
|
0.00004
|
NM_024306.5(FA2H):c.1030C>G (p.Gln344Glu)
|
rs748697810
|
0.00004
|
NM_024306.5(FA2H):c.1093G>C (p.Glu365Gln)
|
rs150795488
|
0.00004
|
NM_183075.3(CYP2U1):c.124C>T (p.Leu42Phe)
|
rs901277054
|
0.00004
|
NM_183075.3(CYP2U1):c.164G>A (p.Arg55Gln)
|
rs745929667
|
0.00004
|
NM_183075.3(CYP2U1):c.322G>A (p.Ala108Thr)
|
rs770267485
|
0.00004
|
NM_001012301.4(ARSI):c.461G>A (p.Arg154Gln)
|
rs746503472
|
0.00003
|
NM_001012301.4(ARSI):c.940C>T (p.Arg314Cys)
|
rs776520005
|
0.00003
|
NM_001128126.3(AP4S1):c.268G>A (p.Val90Ile)
|
rs535501562
|
0.00003
|
NM_001128126.3(AP4S1):c.306+4273C>A
|
rs758028160
|
0.00003
|
NM_001128126.3(AP4S1):c.70G>A (p.Asp24Asn)
|
rs61976851
|
0.00003
|
NM_001385875.1(ZFYVE27):c.1052C>T (p.Thr351Met)
|
rs368842487
|
0.00003
|
NM_001478.5(B4GALNT1):c.191C>G (p.Pro64Arg)
|
rs764035610
|
0.00003
|
NM_001478.5(B4GALNT1):c.218+3G>A
|
rs534200134
|
0.00003
|
NM_001478.5(B4GALNT1):c.620C>T (p.Thr207Ile)
|
rs769379493
|
0.00003
|
NM_001478.5(B4GALNT1):c.997G>A (p.Gly333Ser)
|
rs138721508
|
0.00003
|
NM_002156.5(HSPD1):c.385G>A (p.Glu129Lys)
|
rs139436185
|
0.00003
|
NM_004187.5(KDM5C):c.3881A>G (p.Gln1294Arg)
|
rs782320563
|
0.00003
|
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His)
|
rs782272528
|
0.00003
|
NM_004187.5(KDM5C):c.4563G>T (p.Glu1521Asp)
|
rs782274958
|
0.00003
|
NM_004733.4(SLC33A1):c.968G>C (p.Gly323Ala)
|
rs765678618
|
0.00003
|
NM_004820.5(CYP7B1):c.1171G>A (p.Asp391Asn)
|
rs1458654195
|
0.00003
|
NM_004820.5(CYP7B1):c.1233G>A (p.Glu411=)
|
rs369566738
|
0.00003
|
NM_004820.5(CYP7B1):c.349A>G (p.Lys117Glu)
|
rs368626966
|
0.00003
|
NM_004820.5(CYP7B1):c.695T>C (p.Ile232Thr)
|
rs373829533
|
0.00003
|
NM_004820.5(CYP7B1):c.835G>A (p.Asp279Asn)
|
rs766759427
|
0.00003
|
NM_004820.5(CYP7B1):c.898A>G (p.Thr300Ala)
|
rs749129791
|
0.00003
|
NM_005619.5(RTN2):c.937C>A (p.Pro313Thr)
|
rs751265544
|
0.00003
|
NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu)
|
rs773263889
|
0.00003
|
NM_006517.5(SLC16A2):c.257G>A (p.Arg86His)
|
rs891497471
|
0.00003
|
NM_007347.5(AP4E1):c.1103C>T (p.Pro368Leu)
|
rs771844025
|
0.00003
|
NM_007347.5(AP4E1):c.1451A>T (p.Asp484Val)
|
rs773569377
|
0.00003
|
NM_007347.5(AP4E1):c.1808T>C (p.Met603Thr)
|
rs374123339
|
0.00003
|
NM_007347.5(AP4E1):c.2044C>G (p.Leu682Val)
|
rs375439683
|
0.00003
|
NM_007347.5(AP4E1):c.2416G>A (p.Glu806Lys)
|
rs756384880
|
0.00003
|
NM_007347.5(AP4E1):c.3277C>G (p.Gln1093Glu)
|
rs773929706
|
0.00003
|
NM_014231.5(VAMP1):c.299T>C (p.Met100Thr)
|
rs901075787
|
0.00003
|
NM_014231.5(VAMP1):c.34A>T (p.Thr12Ser)
|
rs758185488
|
0.00003
|
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala)
|
rs767704103
|
0.00003
|
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn)
|
rs201021919
|
0.00003
|
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly)
|
rs1172044277
|
0.00003
|
NM_015346.4(ZFYVE26):c.2070G>C (p.Arg690Ser)
|
rs911420369
|
0.00003
|
NM_015346.4(ZFYVE26):c.2615G>A (p.Arg872His)
|
rs532059976
|
0.00003
|
NM_015346.4(ZFYVE26):c.2680G>A (p.Ala894Thr)
|
rs149203489
|
0.00003
|
NM_015346.4(ZFYVE26):c.361G>A (p.Glu121Lys)
|
rs201229339
|
0.00003
|
NM_015346.4(ZFYVE26):c.3754C>T (p.Arg1252Cys)
|
rs373621715
|
0.00003
|
NM_015346.4(ZFYVE26):c.3755G>A (p.Arg1252His)
|
rs201203611
|
0.00003
|
NM_015346.4(ZFYVE26):c.3818C>T (p.Pro1273Leu)
|
rs755456204
|
0.00003
|
NM_015346.4(ZFYVE26):c.3820A>G (p.Ser1274Gly)
|
rs1348928561
|
0.00003
|
NM_015346.4(ZFYVE26):c.3970T>A (p.Ser1324Thr)
|
rs776708469
|
0.00003
|
NM_015346.4(ZFYVE26):c.397G>A (p.Gly133Ser)
|
rs199505106
|
0.00003
|
NM_015346.4(ZFYVE26):c.3985G>A (p.Val1329Ile)
|
rs758842694
|
0.00003
|
NM_015346.4(ZFYVE26):c.4027A>G (p.Arg1343Gly)
|
rs777319379
|
0.00003
|
NM_015346.4(ZFYVE26):c.4072C>T (p.Arg1358Cys)
|
rs754621080
|
0.00003
|
NM_015346.4(ZFYVE26):c.4955C>T (p.Ala1652Val)
|
rs752388667
|
0.00003
|
NM_015346.4(ZFYVE26):c.5494C>T (p.Arg1832Cys)
|
rs763540632
|
0.00003
|
NM_015346.4(ZFYVE26):c.5636C>T (p.Pro1879Leu)
|
rs757291996
|
0.00003
|
NM_015346.4(ZFYVE26):c.5787G>T (p.Glu1929Asp)
|
rs534207383
|
0.00003
|
NM_015346.4(ZFYVE26):c.6190G>A (p.Gly2064Arg)
|
rs368378082
|
0.00003
|
NM_015346.4(ZFYVE26):c.6287T>C (p.Leu2096Pro)
|
rs367857763
|
0.00003
|
NM_015346.4(ZFYVE26):c.6419G>A (p.Arg2140Gln)
|
rs373855798
|
0.00003
|
NM_015346.4(ZFYVE26):c.6588+4G>A
|
rs369254983
|
0.00003
|
NM_015346.4(ZFYVE26):c.7075C>T (p.Pro2359Ser)
|
rs747029622
|
0.00003
|
NM_015346.4(ZFYVE26):c.7231C>T (p.Arg2411Cys)
|
rs375202089
|
0.00003
|
NM_020944.3(GBA2):c.1058T>C (p.Phe353Ser)
|
rs1342067395
|
0.00003
|
NM_020944.3(GBA2):c.1814G>A (p.Arg605His)
|
rs563054828
|
0.00003
|
NM_020944.3(GBA2):c.2467G>T (p.Gly823Cys)
|
rs1163977326
|
0.00003
|
NM_024306.5(FA2H):c.529G>A (p.Val177Met)
|
rs201500782
|
0.00003
|
NM_024306.5(FA2H):c.786+6C>T
|
rs746907255
|
0.00003
|
NM_024306.5(FA2H):c.799G>A (p.Gly267Ser)
|
rs762987810
|
0.00003
|
NM_024306.5(FA2H):c.94C>G (p.Arg32Gly)
|
rs978032580
|
0.00003
|
NM_001012301.4(ARSI):c.1574G>A (p.Ser525Asn)
|
rs771643080
|
0.00002
|
NM_001012301.4(ARSI):c.613G>A (p.Gly205Ser)
|
rs759105703
|
0.00002
|
NM_001012301.4(ARSI):c.790G>A (p.Ala264Thr)
|
rs770174912
|
0.00002
|
NM_001278116.2(L1CAM):c.2869C>A (p.Pro957Thr)
|
rs1307427270
|
0.00002
|
NM_001385875.1(ZFYVE27):c.242A>G (p.Asn81Ser)
|
rs565250413
|
0.00002
|
NM_001385875.1(ZFYVE27):c.913G>A (p.Ala305Thr)
|
rs1405750745
|
0.00002
|
NM_001478.5(B4GALNT1):c.107C>T (p.Pro36Leu)
|
rs994923026
|
0.00002
|
NM_001478.5(B4GALNT1):c.440A>G (p.Tyr147Cys)
|
rs751949502
|
0.00002
|
NM_001478.5(B4GALNT1):c.757A>G (p.Ile253Val)
|
rs749010936
|
0.00002
|
NM_001478.5(B4GALNT1):c.829G>A (p.Ala277Thr)
|
rs373978358
|
0.00002
|
NM_002156.5(HSPD1):c.1461A>T (p.Gly487=)
|
rs1342462739
|
0.00002
|
NM_002156.5(HSPD1):c.308A>G (p.Asn103Ser)
|
rs766297735
|
0.00002
|
NM_002156.5(HSPD1):c.59C>T (p.Pro20Leu)
|
rs757923024
|
0.00002
|
NM_004187.5(KDM5C):c.2375A>C (p.Glu792Ala)
|
rs782426227
|
0.00002
|
NM_004187.5(KDM5C):c.2944C>T (p.Arg982Cys)
|
rs369353279
|
0.00002
|
NM_004187.5(KDM5C):c.3068A>G (p.Lys1023Arg)
|
rs782367133
|
0.00002
|
NM_004187.5(KDM5C):c.3668C>T (p.Pro1223Leu)
|
rs199817424
|
0.00002
|
NM_004187.5(KDM5C):c.4406G>T (p.Gly1469Val)
|
rs1428371887
|
0.00002
|
NM_004733.4(SLC33A1):c.131G>T (p.Gly44Val)
|
rs780400607
|
0.00002
|
NM_004733.4(SLC33A1):c.280A>T (p.Ser94Cys)
|
rs780342840
|
0.00002
|
NM_004733.4(SLC33A1):c.540T>A (p.Thr180=)
|
rs1020651893
|
0.00002
|
NM_004733.4(SLC33A1):c.763G>A (p.Val255Ile)
|
rs1173522838
|
0.00002
|
NM_004820.5(CYP7B1):c.1220T>C (p.Phe407Ser)
|
rs769450032
|
0.00002
|
NM_004820.5(CYP7B1):c.1400T>C (p.Leu467Ser)
|
rs1032229386
|
0.00002
|
NM_004820.5(CYP7B1):c.1430A>G (p.Asp477Gly)
|
rs745805058
|
0.00002
|
NM_004820.5(CYP7B1):c.147A>G (p.Ile49Met)
|
rs774259036
|
0.00002
|
NM_004820.5(CYP7B1):c.151G>A (p.Gly51Ser)
|
rs961524982
|
0.00002
|
NM_004820.5(CYP7B1):c.478A>G (p.Asn160Asp)
|
rs775784484
|
0.00002
|
NM_004820.5(CYP7B1):c.538C>G (p.Leu180Val)
|
rs1298248066
|
0.00002
|
NM_004820.5(CYP7B1):c.608G>A (p.Cys203Tyr)
|
rs746173425
|
0.00002
|
NM_004820.5(CYP7B1):c.941C>T (p.Ala314Val)
|
rs775227835
|
0.00002
|
NM_004984.4(KIF5A):c.1631G>A (p.Arg544Gln)
|
rs778864713
|
0.00002
|
NM_004984.4(KIF5A):c.1796A>G (p.Lys599Arg)
|
rs1471037370
|
0.00002
|
NM_004984.4(KIF5A):c.2006C>A (p.Ala669Asp)
|
rs753975521
|
0.00002
|
NM_004984.4(KIF5A):c.2135G>A (p.Arg712Gln)
|
rs373969485
|
0.00002
|
NM_004984.4(KIF5A):c.2152C>T (p.Arg718Trp)
|
rs769871370
|
0.00002
|
NM_004984.4(KIF5A):c.217+5T>C
|
rs1321172885
|
0.00002
|
NM_004984.4(KIF5A):c.2282C>G (p.Thr761Ser)
|
rs1271325672
|
0.00002
|
NM_004984.4(KIF5A):c.2734C>T (p.Arg912Trp)
|
rs201098122
|
0.00002
|
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile)
|
rs146202502
|
0.00002
|
NM_004984.4(KIF5A):c.560G>C (p.Gly187Ala)
|
rs147510678
|
0.00002
|
NM_004984.4(KIF5A):c.5C>T (p.Ala2Val)
|
rs780433858
|
0.00002
|
NM_005619.5(RTN2):c.1061C>T (p.Thr354Met)
|
rs762160784
|
0.00002
|
NM_005619.5(RTN2):c.1129G>A (p.Val377Met)
|
rs146778767
|
0.00002
|
NM_005619.5(RTN2):c.1233C>G (p.Asn411Lys)
|
rs868042088
|
0.00002
|
NM_006517.5(SLC16A2):c.148G>A (p.Glu50Lys)
|
rs756065515
|
0.00002
|
NM_007175.8(ERLIN2):c.820C>A (p.Leu274Met)
|
rs1481759100
|
0.00002
|
NM_007347.5(AP4E1):c.2033C>T (p.Ala678Val)
|
rs760833457
|
0.00002
|
NM_007347.5(AP4E1):c.211A>G (p.Thr71Ala)
|
rs1490232988
|
0.00002
|
NM_007347.5(AP4E1):c.223A>C (p.Lys75Gln)
|
rs768026274
|
0.00002
|
NM_007347.5(AP4E1):c.2407A>G (p.Lys803Glu)
|
rs781254112
|
0.00002
|
NM_014231.5(VAMP1):c.26C>G (p.Ala9Gly)
|
rs375340840
|
0.00002
|
NM_014231.5(VAMP1):c.307G>A (p.Ala103Thr)
|
rs772852206
|
0.00002
|
NM_015346.4(ZFYVE26):c.1255T>G (p.Cys419Gly)
|
rs970442327
|
0.00002
|
NM_015346.4(ZFYVE26):c.1462C>T (p.His488Tyr)
|
rs145455748
|
0.00002
|
NM_015346.4(ZFYVE26):c.1504T>C (p.Cys502Arg)
|
rs1035299180
|
0.00002
|
NM_015346.4(ZFYVE26):c.1859C>T (p.Pro620Leu)
|
rs1446154884
|
0.00002
|
NM_015346.4(ZFYVE26):c.2174G>A (p.Arg725His)
|
rs374310868
|
0.00002
|
NM_015346.4(ZFYVE26):c.2299C>T (p.Arg767Cys)
|
rs865826144
|
0.00002
|
NM_015346.4(ZFYVE26):c.2422T>C (p.Ser808Pro)
|
rs758794744
|
0.00002
|
NM_015346.4(ZFYVE26):c.2986G>A (p.Glu996Lys)
|
rs778790022
|
0.00002
|
NM_015346.4(ZFYVE26):c.308A>C (p.Glu103Ala)
|
rs750426190
|
0.00002
|
NM_015346.4(ZFYVE26):c.3172C>T (p.Arg1058Trp)
|
rs200775182
|
0.00002
|
NM_015346.4(ZFYVE26):c.3177C>G (p.Cys1059Trp)
|
rs1345853054
|
0.00002
|
NM_015346.4(ZFYVE26):c.3788A>T (p.His1263Leu)
|
rs753068215
|
0.00002
|
NM_015346.4(ZFYVE26):c.3931C>T (p.Arg1311Cys)
|
rs763605079
|
0.00002
|
NM_015346.4(ZFYVE26):c.3932G>A (p.Arg1311His)
|
rs367970314
|
0.00002
|
NM_015346.4(ZFYVE26):c.5347C>G (p.Leu1783Val)
|
rs752654491
|
0.00002
|
NM_015346.4(ZFYVE26):c.6263G>A (p.Arg2088His)
|
rs769602785
|
0.00002
|
NM_015346.4(ZFYVE26):c.6802G>A (p.Ala2268Thr)
|
rs199942594
|
0.00002
|
NM_015346.4(ZFYVE26):c.764G>A (p.Arg255Gln)
|
rs200023667
|
0.00002
|
NM_015346.4(ZFYVE26):c.805C>T (p.Arg269Trp)
|
rs778438729
|
0.00002
|
NM_020435.4(GJC2):c.217C>A (p.Pro73Thr)
|
rs1330596542
|
0.00002
|
NM_020435.4(GJC2):c.295G>A (p.Val99Met)
|
rs754971409
|
0.00002
|
NM_020435.4(GJC2):c.550G>A (p.Ala184Thr)
|
rs758277909
|
0.00002
|
NM_020435.4(GJC2):c.599G>A (p.Gly200Glu)
|
rs747380067
|
0.00002
|
NM_020944.3(GBA2):c.2054+6C>T
|
rs148315388
|
0.00002
|
NM_020944.3(GBA2):c.388C>T (p.His130Tyr)
|
rs143493395
|
0.00002
|
NM_020944.3(GBA2):c.491G>A (p.Arg164His)
|
rs192753525
|
0.00002
|
NM_024306.5(FA2H):c.1027C>T (p.His343Tyr)
|
rs948211737
|
0.00002
|
NM_024306.5(FA2H):c.35C>T (p.Ser12Leu)
|
rs1245153953
|
0.00002
|
NM_024306.5(FA2H):c.772G>A (p.Gly258Ser)
|
rs774693133
|
0.00002
|
NM_024306.5(FA2H):c.794T>G (p.Phe265Cys)
|
rs149133141
|
0.00002
|
NM_183075.3(CYP2U1):c.1106C>T (p.Ser369Leu)
|
rs141112404
|
0.00002
|
NM_183075.3(CYP2U1):c.1253C>T (p.Pro418Leu)
|
rs201629689
|
0.00002
|
NM_183075.3(CYP2U1):c.719G>A (p.Arg240His)
|
rs145638445
|
0.00002
|
NM_001012301.4(ARSI):c.1096G>T (p.Asp366Tyr)
|
rs764276956
|
0.00001
|
NM_001012301.4(ARSI):c.1153C>T (p.Arg385Cys)
|
rs376385573
|
0.00001
|
NM_001012301.4(ARSI):c.1628G>A (p.Arg543His)
|
rs752677006
|
0.00001
|
NM_001012301.4(ARSI):c.1672C>T (p.Arg558Cys)
|
rs747622334
|
0.00001
|
NM_001012301.4(ARSI):c.232G>A (p.Ala78Thr)
|
rs763003022
|
0.00001
|
NM_001012301.4(ARSI):c.349C>T (p.Arg117Cys)
|
rs768025747
|
0.00001
|
NM_001012301.4(ARSI):c.583G>A (p.Glu195Lys)
|
rs1036095892
|
0.00001
|
NM_001012301.4(ARSI):c.640C>T (p.Gln214Ter)
|
rs769558952
|
0.00001
|
NM_001012301.4(ARSI):c.736C>T (p.Arg246Cys)
|
rs749539572
|
0.00001
|
NM_001012301.4(ARSI):c.967G>A (p.Val323Met)
|
rs141392111
|
0.00001
|
NM_001128126.3(AP4S1):c.306+35G>A
|
rs571583264
|
0.00001
|
NM_001128126.3(AP4S1):c.306+4182T>A
|
rs913347896
|
0.00001
|
NM_001128126.3(AP4S1):c.306+4234A>G
|
rs1887843929
|
0.00001
|
NM_001278116.2(L1CAM):c.1225C>T (p.Arg409Trp)
|
rs782132624
|
0.00001
|
NM_001278116.2(L1CAM):c.1358C>T (p.Ala453Val)
|
rs1557092050
|
0.00001
|
NM_001278116.2(L1CAM):c.1894C>G (p.Arg632Gly)
|
rs782367123
|
0.00001
|
NM_001278116.2(L1CAM):c.2758C>T (p.His920Tyr)
|
rs2064701743
|
0.00001
|
NM_001278116.2(L1CAM):c.3181G>T (p.Ala1061Ser)
|
rs1232974377
|
0.00001
|
NM_001278116.2(L1CAM):c.3770A>G (p.Glu1257Gly)
|
rs1557089225
|
0.00001
|
NM_001385875.1(ZFYVE27):c.1022G>A (p.Arg341His)
|
rs927949688
|
0.00001
|
NM_001385875.1(ZFYVE27):c.1042G>A (p.Gly348Arg)
|
rs779342544
|
0.00001
|
NM_001385875.1(ZFYVE27):c.1151A>G (p.Lys384Arg)
|
rs1032496804
|
0.00001
|
NM_001385875.1(ZFYVE27):c.436G>A (p.Val146Met)
|
rs746654065
|
0.00001
|
NM_001385875.1(ZFYVE27):c.538G>A (p.Val180Ile)
|
rs751379469
|
0.00001
|
NM_001385875.1(ZFYVE27):c.680G>A (p.Arg227Lys)
|
rs2046602733
|
0.00001
|
NM_001385875.1(ZFYVE27):c.727T>C (p.Phe243Leu)
|
rs980483998
|
0.00001
|
NM_001385875.1(ZFYVE27):c.764A>G (p.Asp255Gly)
|
rs775345962
|
0.00001
|
NM_001385875.1(ZFYVE27):c.995C>G (p.Ser332Cys)
|
rs1442129328
|
0.00001
|
NM_001385875.1(ZFYVE27):c.998G>A (p.Arg333Gln)
|
rs370222554
|
0.00001
|
NM_001478.5(B4GALNT1):c.1002+4T>C
|
rs750503233
|
0.00001
|
NM_001478.5(B4GALNT1):c.1008G>C (p.Trp336Cys)
|
rs144926023
|
0.00001
|
NM_001478.5(B4GALNT1):c.106C>T (p.Pro36Ser)
|
rs780178164
|
0.00001
|
NM_001478.5(B4GALNT1):c.1088C>G (p.Ala363Gly)
|
rs1344371363
|
0.00001
|
NM_001478.5(B4GALNT1):c.1189C>T (p.Arg397Trp)
|
rs1366537672
|
0.00001
|
NM_001478.5(B4GALNT1):c.1435G>A (p.Val479Ile)
|
rs995397312
|
0.00001
|
NM_001478.5(B4GALNT1):c.14G>T (p.Arg5Leu)
|
rs1379563517
|
0.00001
|
NM_001478.5(B4GALNT1):c.251C>G (p.Ser84Cys)
|
rs1299468966
|
0.00001
|
NM_001478.5(B4GALNT1):c.46G>T (p.Ala16Ser)
|
rs560242428
|
0.00001
|
NM_001478.5(B4GALNT1):c.800T>C (p.Leu267Pro)
|
rs765702603
|
0.00001
|
NM_001478.5(B4GALNT1):c.863G>A (p.Arg288His)
|
rs376291531
|
0.00001
|
NM_001478.5(B4GALNT1):c.871C>T (p.Arg291Trp)
|
rs1885017573
|
0.00001
|
NM_001478.5(B4GALNT1):c.899G>A (p.Arg300His)
|
rs771628032
|
0.00001
|
NM_001478.5(B4GALNT1):c.931G>A (p.Ala311Thr)
|
rs897160467
|
0.00001
|
NM_001478.5(B4GALNT1):c.98T>C (p.Leu33Pro)
|
rs920888983
|
0.00001
|
NM_002156.5(HSPD1):c.1003G>A (p.Glu335Lys)
|
rs1211601466
|
0.00001
|
NM_002156.5(HSPD1):c.1009G>A (p.Val337Ile)
|
rs755920309
|
0.00001
|
NM_002156.5(HSPD1):c.1068G>A (p.Met356Ile)
|
rs764997042
|
0.00001
|
NM_002156.5(HSPD1):c.1207G>A (p.Val403Met)
|
rs886055386
|
0.00001
|
NM_002156.5(HSPD1):c.1219G>A (p.Gly407Ser)
|
rs781279282
|
0.00001
|
NM_002156.5(HSPD1):c.1294G>A (p.Val432Ile)
|
rs184516277
|
0.00001
|
NM_002156.5(HSPD1):c.1542G>A (p.Val514=)
|
rs774106420
|
0.00001
|
NM_002156.5(HSPD1):c.1702A>G (p.Met568Val)
|
rs757331948
|
0.00001
|
NM_002156.5(HSPD1):c.823G>A (p.Ala275Thr)
|
rs953604247
|
0.00001
|
NM_002156.5(HSPD1):c.869+4A>G
|
rs749804768
|
0.00001
|
NM_004187.5(KDM5C):c.2866G>A (p.Ala956Thr)
|
rs1392496114
|
0.00001
|
NM_004187.5(KDM5C):c.4034C>T (p.Pro1345Leu)
|
rs782668307
|
0.00001
|
NM_004187.5(KDM5C):c.4090G>A (p.Ala1364Thr)
|
rs1556833274
|
0.00001
|
NM_004187.5(KDM5C):c.4566C>A (p.Asn1522Lys)
|
rs1245355138
|
0.00001
|
NM_004733.4(SLC33A1):c.1003T>G (p.Leu335Val)
|
rs1248630150
|
0.00001
|
NM_004733.4(SLC33A1):c.1037C>T (p.Ala346Val)
|
rs771681797
|
0.00001
|
NM_004733.4(SLC33A1):c.1457A>G (p.Asn486Ser)
|
rs745849692
|
0.00001
|
NM_004733.4(SLC33A1):c.201C>G (p.Ser67Arg)
|
rs762010317
|
0.00001
|
NM_004733.4(SLC33A1):c.311T>C (p.Val104Ala)
|
rs1028028437
|
0.00001
|
NM_004733.4(SLC33A1):c.393G>A (p.Ala131=)
|
rs954053538
|
0.00001
|
NM_004733.4(SLC33A1):c.43C>T (p.Arg15Trp)
|
rs745782500
|
0.00001
|
NM_004733.4(SLC33A1):c.583A>G (p.Ile195Val)
|
rs148999356
|
0.00001
|
NM_004733.4(SLC33A1):c.685A>G (p.Asn229Asp)
|
rs755014645
|
0.00001
|
NM_004733.4(SLC33A1):c.797C>G (p.Thr266Ser)
|
rs374979946
|
0.00001
|
NM_004733.4(SLC33A1):c.988G>A (p.Val330Ile)
|
rs1449462090
|
0.00001
|
NM_004820.5(CYP7B1):c.1031A>C (p.Glu344Ala)
|
rs1057518485
|
0.00001
|
NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn)
|
rs753708048
|
0.00001
|
NM_004820.5(CYP7B1):c.112C>T (p.Arg38Trp)
|
rs1169097528
|
0.00001
|
NM_004820.5(CYP7B1):c.1153T>C (p.Tyr385His)
|
rs1805252495
|
0.00001
|
NM_004820.5(CYP7B1):c.1193C>T (p.Pro398Leu)
|
rs767611387
|
0.00001
|
NM_004820.5(CYP7B1):c.1234G>A (p.Glu412Lys)
|
rs116462183
|
0.00001
|
NM_004820.5(CYP7B1):c.1256T>C (p.Ile419Thr)
|
rs778082094
|
0.00001
|
NM_004820.5(CYP7B1):c.1310G>A (p.Cys437Tyr)
|
rs886063072
|
0.00001
|
NM_004820.5(CYP7B1):c.1322C>T (p.Pro441Leu)
|
rs1376071051
|
0.00001
|
NM_004820.5(CYP7B1):c.1355G>A (p.Arg452Gln)
|
rs775806979
|
0.00001
|
NM_004820.5(CYP7B1):c.1468G>T (p.Gly490Cys)
|
rs1259728204
|
0.00001
|
NM_004820.5(CYP7B1):c.148A>C (p.Lys50Gln)
|
rs981969611
|
0.00001
|
NM_004820.5(CYP7B1):c.23C>T (p.Ala8Val)
|
rs565769944
|
0.00001
|
NM_004820.5(CYP7B1):c.360G>C (p.Glu120Asp)
|
rs1471658177
|
0.00001
|
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp)
|
rs754730601
|
0.00001
|
NM_004820.5(CYP7B1):c.581C>G (p.Thr194Arg)
|
rs1316960085
|
0.00001
|
NM_004820.5(CYP7B1):c.70C>G (p.Leu24Val)
|
rs1804748061
|
0.00001
|
NM_004820.5(CYP7B1):c.77C>T (p.Ala26Val)
|
rs754214163
|
0.00001
|
NM_004820.5(CYP7B1):c.819A>C (p.Lys273Asn)
|
rs1331028527
|
0.00001
|
NM_004820.5(CYP7B1):c.8G>A (p.Gly3Glu)
|
rs1052965378
|
0.00001
|
NM_004820.5(CYP7B1):c.910G>A (p.Ala304Thr)
|
rs748070308
|
0.00001
|
NM_004820.5(CYP7B1):c.92T>A (p.Leu31Gln)
|
rs886063076
|
0.00001
|
NM_004820.5(CYP7B1):c.945_947dup (p.Ala317dup)
|
rs757326595
|
0.00001
|
NM_004820.5(CYP7B1):c.955C>T (p.Arg319Cys)
|
rs1410531135
|
0.00001
|
NM_004820.5(CYP7B1):c.956G>T (p.Arg319Leu)
|
rs767826482
|
0.00001
|
NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser)
|
rs749301835
|
0.00001
|
NM_004984.4(KIF5A):c.1111C>T (p.Arg371Cys)
|
rs986406337
|
0.00001
|
NM_004984.4(KIF5A):c.1117+4A>G
|
rs781028681
|
0.00001
|
NM_004984.4(KIF5A):c.1123A>G (p.Asn375Asp)
|
rs767095969
|
0.00001
|
NM_004984.4(KIF5A):c.1152G>T (p.Gly384=)
|
rs1206226779
|
0.00001
|
NM_004984.4(KIF5A):c.1177C>A (p.Leu393Ile)
|
rs1247656371
|
0.00001
|
NM_004984.4(KIF5A):c.1223G>A (p.Arg408His)
|
rs1203347152
|
0.00001
|
NM_004984.4(KIF5A):c.1373C>T (p.Ser458Phe)
|
rs1445439522
|
0.00001
|
NM_004984.4(KIF5A):c.151C>T (p.Arg51Cys)
|
rs769763596
|
0.00001
|
NM_004984.4(KIF5A):c.1569+6T>C
|
rs1191410072
|
0.00001
|
NM_004984.4(KIF5A):c.1570-5C>T
|
rs752180551
|
0.00001
|
NM_004984.4(KIF5A):c.170C>T (p.Thr57Met)
|
rs759785671
|
0.00001
|
NM_004984.4(KIF5A):c.1735G>A (p.Ala579Thr)
|
rs760135493
|
0.00001
|
NM_004984.4(KIF5A):c.1850G>A (p.Arg617His)
|
rs751295639
|
0.00001
|
NM_004984.4(KIF5A):c.1867G>A (p.Gly623Arg)
|
rs1882386176
|
0.00001
|
NM_004984.4(KIF5A):c.1964G>A (p.Arg655Gln)
|
rs772780431
|
0.00001
|
NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp)
|
rs756646293
|
0.00001
|
NM_004984.4(KIF5A):c.2188G>A (p.Glu730Lys)
|
rs370904481
|
0.00001
|
NM_004984.4(KIF5A):c.2342A>G (p.Lys781Arg)
|
rs1461718357
|
0.00001
|
NM_004984.4(KIF5A):c.2365C>T (p.Arg789Trp)
|
rs781124099
|
0.00001
|
NM_004984.4(KIF5A):c.236A>G (p.Asn79Ser)
|
rs1299838179
|
0.00001
|
NM_004984.4(KIF5A):c.2392C>T (p.Arg798Cys)
|
rs372633156
|
0.00001
|
NM_004984.4(KIF5A):c.2452G>A (p.Glu818Lys)
|
rs766050696
|
0.00001
|
NM_004984.4(KIF5A):c.2478A>C (p.Gln826His)
|
rs777903778
|
0.00001
|
NM_004984.4(KIF5A):c.2603C>T (p.Thr868Met)
|
rs1295436882
|
0.00001
|
NM_004984.4(KIF5A):c.2630G>C (p.Gly877Ala)
|
rs1882579532
|
0.00001
|
NM_004984.4(KIF5A):c.2681A>T (p.Gln894Leu)
|
rs1192823802
|
0.00001
|
NM_004984.4(KIF5A):c.2710G>A (p.Val904Ile)
|
rs141590802
|
0.00001
|
NM_004984.4(KIF5A):c.2713C>T (p.Arg905Cys)
|
rs758637368
|
0.00001
|
NM_004984.4(KIF5A):c.2755+3G>A
|
rs1416076720
|
0.00001
|
NM_004984.4(KIF5A):c.2767C>T (p.Arg923Trp)
|
rs1231571339
|
0.00001
|
NM_004984.4(KIF5A):c.291+5G>A
|
rs775732465
|
0.00001
|
NM_004984.4(KIF5A):c.2921C>T (p.Ser974Phe)
|
rs1882614569
|
0.00001
|
NM_004984.4(KIF5A):c.2992+3G>T
|
rs1882618202
|
0.00001
|
NM_004984.4(KIF5A):c.3050A>G (p.Glu1017Gly)
|
rs1485170378
|
0.00001
|
NM_004984.4(KIF5A):c.3085A>G (p.Thr1029Ala)
|
rs1276293459
|
0.00001
|
NM_004984.4(KIF5A):c.32A>C (p.Lys11Thr)
|
rs748864821
|
0.00001
|
NM_004984.4(KIF5A):c.449C>G (p.Thr150Ser)
|
rs1882017045
|
0.00001
|
NM_004984.4(KIF5A):c.52C>T (p.Pro18Ser)
|
rs770302674
|
0.00001
|
NM_004984.4(KIF5A):c.530C>T (p.Pro177Leu)
|
rs1319232269
|
0.00001
|
NM_004984.4(KIF5A):c.659C>T (p.Thr220Met)
|
rs772697257
|
0.00001
|
NM_004984.4(KIF5A):c.819+12T>G
|
rs1264041425
|
0.00001
|
NM_004984.4(KIF5A):c.848A>G (p.Lys283Arg)
|
rs1882169104
|
0.00001
|
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)
|
rs1012819766
|
0.00001
|
NM_005619.5(RTN2):c.1100C>T (p.Ser367Phe)
|
rs140494585
|
0.00001
|
NM_005619.5(RTN2):c.1146C>G (p.His382Gln)
|
rs761037026
|
0.00001
|
NM_005619.5(RTN2):c.1326G>A (p.Ala442=)
|
rs576506093
|
0.00001
|
NM_005619.5(RTN2):c.1340G>A (p.Arg447Gln)
|
rs1262346281
|
0.00001
|
NM_005619.5(RTN2):c.1535A>G (p.Gln512Arg)
|
rs1272372658
|
0.00001
|
NM_005619.5(RTN2):c.1585G>A (p.Ala529Thr)
|
rs767540821
|
0.00001
|
NM_005619.5(RTN2):c.253C>T (p.Arg85Cys)
|
rs751101450
|
0.00001
|
NM_005619.5(RTN2):c.505G>A (p.Glu169Lys)
|
rs560858936
|
0.00001
|
NM_005619.5(RTN2):c.707T>C (p.Leu236Pro)
|
rs1968222567
|
0.00001
|
NM_005619.5(RTN2):c.733C>T (p.Pro245Ser)
|
rs1162893244
|
0.00001
|
NM_005619.5(RTN2):c.874A>G (p.Ile292Val)
|
rs762624721
|
0.00001
|
NM_006517.5(SLC16A2):c.1235G>A (p.Gly412Asp)
|
rs1312142074
|
0.00001
|
NM_006517.5(SLC16A2):c.1366G>T (p.Ala456Ser)
|
rs753333178
|
0.00001
|
NM_006517.5(SLC16A2):c.1608G>A (p.Glu536=)
|
rs1407216782
|
0.00001
|
NM_006517.5(SLC16A2):c.202G>A (p.Glu68Lys)
|
rs1034820850
|
0.00001
|
NM_006517.5(SLC16A2):c.524C>T (p.Thr175Ile)
|
rs753832797
|
0.00001
|
NM_006517.5(SLC16A2):c.52G>A (p.Ala18Thr)
|
rs1928296742
|
0.00001
|
NM_006517.5(SLC16A2):c.938T>C (p.Met313Thr)
|
rs1930462863
|
0.00001
|
NM_007175.8(ERLIN2):c.220G>A (p.Val74Ile)
|
rs1802860785
|
0.00001
|
NM_007175.8(ERLIN2):c.298+5G>A
|
rs368268528
|
0.00001
|
NM_007175.8(ERLIN2):c.389T>C (p.Val130Ala)
|
rs371713211
|
0.00001
|
NM_007175.8(ERLIN2):c.688G>A (p.Gly230Arg)
|
rs752925074
|
0.00001
|
NM_007175.8(ERLIN2):c.76A>T (p.Ile26Leu)
|
rs1302684546
|
0.00001
|
NM_007175.8(ERLIN2):c.772G>T (p.Ala258Ser)
|
rs368687557
|
0.00001
|
NM_007175.8(ERLIN2):c.862G>C (p.Ala288Pro)
|
rs907287913
|
0.00001
|
NM_007347.5(AP4E1):c.1036C>A (p.Leu346Met)
|
rs201394319
|
0.00001
|
NM_007347.5(AP4E1):c.1183G>A (p.Glu395Lys)
|
rs751577288
|
0.00001
|
NM_007347.5(AP4E1):c.1279G>A (p.Val427Ile)
|
rs774494463
|
0.00001
|
NM_007347.5(AP4E1):c.1403A>G (p.Asn468Ser)
|
rs780651589
|
0.00001
|
NM_007347.5(AP4E1):c.1499A>G (p.Asp500Gly)
|
rs1344364385
|
0.00001
|
NM_007347.5(AP4E1):c.1582G>A (p.Glu528Lys)
|
rs1267824482
|
0.00001
|
NM_007347.5(AP4E1):c.1600A>G (p.Ile534Val)
|
rs1343407484
|
0.00001
|
NM_007347.5(AP4E1):c.1660T>G (p.Leu554Val)
|
rs761229505
|
0.00001
|
NM_007347.5(AP4E1):c.1804C>T (p.Leu602Phe)
|
rs201486041
|
0.00001
|
NM_007347.5(AP4E1):c.194C>T (p.Ala65Val)
|
rs368584847
|
0.00001
|
NM_007347.5(AP4E1):c.2069G>A (p.Ser690Asn)
|
rs1447319588
|
0.00001
|
NM_007347.5(AP4E1):c.212C>T (p.Thr71Ile)
|
rs755540057
|
0.00001
|
NM_007347.5(AP4E1):c.2335A>G (p.Thr779Ala)
|
rs145037780
|
0.00001
|
NM_007347.5(AP4E1):c.2371C>T (p.His791Tyr)
|
rs1006880090
|
0.00001
|
NM_007347.5(AP4E1):c.2638A>G (p.Asn880Asp)
|
rs201177806
|
0.00001
|
NM_007347.5(AP4E1):c.2767A>G (p.Asn923Asp)
|
rs1245295225
|
0.00001
|
NM_007347.5(AP4E1):c.284C>T (p.Ser95Phe)
|
rs771192552
|
0.00001
|
NM_007347.5(AP4E1):c.2862G>C (p.Leu954Phe)
|
rs752289823
|
0.00001
|
NM_007347.5(AP4E1):c.293A>G (p.Tyr98Cys)
|
rs1203910887
|
0.00001
|
NM_007347.5(AP4E1):c.2969A>G (p.Tyr990Cys)
|
rs767786324
|
0.00001
|
NM_007347.5(AP4E1):c.46T>C (p.Phe16Leu)
|
rs763655101
|
0.00001
|
NM_007347.5(AP4E1):c.653A>G (p.Asp218Gly)
|
rs1211471604
|
0.00001
|
NM_007347.5(AP4E1):c.682A>G (p.Ile228Val)
|
rs373938768
|
0.00001
|
NM_007347.5(AP4E1):c.684A>G (p.Ile228Met)
|
rs1238343522
|
0.00001
|
NM_007347.5(AP4E1):c.899A>T (p.Asp300Val)
|
rs200153804
|
0.00001
|
NM_007347.5(AP4E1):c.911G>A (p.Arg304Gln)
|
rs768086723
|
0.00001
|
NM_007347.5(AP4E1):c.979A>G (p.Ile327Val)
|
rs750054206
|
0.00001
|
NM_014231.5(VAMP1):c.2+3G>A
|
rs982874261
|
0.00001
|
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter)
|
rs1237437677
|
0.00001
|
NM_014231.5(VAMP1):c.325G>A (p.Val109Met)
|
rs147397648
|
0.00001
|
NM_014231.5(VAMP1):c.353C>T (p.Thr118Ile)
|
rs1232673532
|
0.00001
|
NM_014231.5(VAMP1):c.98G>A (p.Arg33Gln)
|
rs1256770289
|
0.00001
|
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)
|
rs281865119
|
0.00001
|
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile)
|
rs1883567634
|
0.00001
|
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly)
|
rs766487632
|
0.00001
|
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val)
|
rs1236705431
|
0.00001
|
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg)
|
rs1328721442
|
0.00001
|
NM_014363.6(SACS):c.1229T>C (p.Leu410Ser)
|
rs777556535
|
0.00001
|
NM_014363.6(SACS):c.1236T>A (p.Asp412Glu)
|
rs752472671
|
0.00001
|
NM_014363.6(SACS):c.1306G>A (p.Ala436Thr)
|
rs1403003359
|
0.00001
|
NM_014363.6(SACS):c.1421G>A (p.Arg474His)
|
rs1271593930
|
0.00001
|
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu)
|
rs376186273
|
0.00001
|
NM_014363.6(SACS):c.176C>G (p.Ser59Cys)
|
rs773543202
|
0.00001
|
NM_014363.6(SACS):c.2092A>T (p.Arg698Trp)
|
rs965068037
|
0.00001
|
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys)
|
rs536614181
|
0.00001
|
NM_014363.6(SACS):c.2581C>T (p.His861Tyr)
|
rs759265754
|
0.00001
|
NM_014363.6(SACS):c.3261A>C (p.Leu1087Phe)
|
rs1417936142
|
0.00001
|
NM_014363.6(SACS):c.326A>G (p.Glu109Gly)
|
rs1317414910
|
0.00001
|
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)
|
rs139805032
|
0.00001
|
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly)
|
rs370324250
|
0.00001
|
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp)
|
rs772907934
|
0.00001
|
NM_014363.6(SACS):c.4665A>C (p.Lys1555Asn)
|
rs769852897
|
0.00001
|
NM_014363.6(SACS):c.475T>C (p.Tyr159His)
|
rs1305721973
|
0.00001
|
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu)
|
rs1330036755
|
0.00001
|
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile)
|
rs776656956
|
0.00001
|
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys)
|
rs1461096954
|
0.00001
|
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg)
|
rs754381972
|
0.00001
|
NM_014363.6(SACS):c.7246A>G (p.Ile2416Val)
|
rs774907744
|
0.00001
|
NM_014363.6(SACS):c.7595T>C (p.Ile2532Thr)
|
rs1292962703
|
0.00001
|
NM_014363.6(SACS):c.7613C>T (p.Ala2538Val)
|
rs1397645663
|
0.00001
|
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val)
|
rs866333277
|
0.00001
|
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val)
|
rs1269342975
|
0.00001
|
NM_014363.6(SACS):c.8012A>G (p.Asp2671Gly)
|
rs373785542
|
0.00001
|
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)
|
rs1213203489
|
0.00001
|
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu)
|
rs762610527
|
0.00001
|
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr)
|
rs182864646
|
0.00001
|
NM_014363.6(SACS):c.8281G>A (p.Val2761Met)
|
rs372119773
|
0.00001
|
NM_014363.6(SACS):c.8356G>C (p.Asp2786His)
|
rs753607639
|
0.00001
|
NM_014363.6(SACS):c.8357A>G (p.Asp2786Gly)
|
rs1566063039
|
0.00001
|
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn)
|
rs1382975968
|
0.00001
|
NM_014363.6(SACS):c.8956C>G (p.His2986Asp)
|
rs751888795
|
0.00001
|
NM_014363.6(SACS):c.9008G>C (p.Gly3003Ala)
|
rs1170753806
|
0.00001
|
NM_014363.6(SACS):c.9492A>C (p.Gln3164His)
|
rs1025915131
|
0.00001
|
NM_014363.6(SACS):c.9731T>A (p.Leu3244His)
|
rs886042769
|
0.00001
|
NM_015346.4(ZFYVE26):c.1153A>T (p.Arg385Trp)
|
rs529988015
|
0.00001
|
NM_015346.4(ZFYVE26):c.1228T>C (p.Trp410Arg)
|
rs774078953
|
0.00001
|
NM_015346.4(ZFYVE26):c.1313G>A (p.Gly438Asp)
|
rs1566896003
|
0.00001
|
NM_015346.4(ZFYVE26):c.1378G>A (p.Glu460Lys)
|
rs764112580
|
0.00001
|
NM_015346.4(ZFYVE26):c.1399C>G (p.Gln467Glu)
|
rs373177554
|
0.00001
|
NM_015346.4(ZFYVE26):c.1429G>A (p.Glu477Lys)
|
rs1365961964
|
0.00001
|
NM_015346.4(ZFYVE26):c.1776G>T (p.Glu592Asp)
|
rs558430297
|
0.00001
|
NM_015346.4(ZFYVE26):c.1819G>A (p.Gly607Arg)
|
rs142015707
|
0.00001
|
NM_015346.4(ZFYVE26):c.2090A>G (p.Asp697Gly)
|
rs770934562
|
0.00001
|
NM_015346.4(ZFYVE26):c.2183G>A (p.Arg728Gln)
|
rs770927853
|
0.00001
|
NM_015346.4(ZFYVE26):c.2309G>A (p.Arg770His)
|
rs775959874
|
0.00001
|
NM_015346.4(ZFYVE26):c.2311C>T (p.Arg771Trp)
|
rs772591592
|
0.00001
|
NM_015346.4(ZFYVE26):c.2402-4A>G
|
rs748220376
|
0.00001
|
NM_015346.4(ZFYVE26):c.2588G>A (p.Ser863Asn)
|
rs750021215
|
0.00001
|
NM_015346.4(ZFYVE26):c.2594G>C (p.Gly865Ala)
|
rs181520084
|
0.00001
|
NM_015346.4(ZFYVE26):c.2663A>G (p.Glu888Gly)
|
rs759516757
|
0.00001
|
NM_015346.4(ZFYVE26):c.2698C>T (p.Arg900Trp)
|
rs756918932
|
0.00001
|
NM_015346.4(ZFYVE26):c.2773A>G (p.Ile925Val)
|
rs776812324
|
0.00001
|
NM_015346.4(ZFYVE26):c.2777C>G (p.Ser926Cys)
|
rs769154501
|
0.00001
|
NM_015346.4(ZFYVE26):c.2867C>T (p.Pro956Leu)
|
rs764476863
|
0.00001
|
NM_015346.4(ZFYVE26):c.2939C>G (p.Ser980Cys)
|
rs1194352785
|
0.00001
|
NM_015346.4(ZFYVE26):c.295C>T (p.Arg99Trp)
|
rs779962087
|
0.00001
|
NM_015346.4(ZFYVE26):c.2974T>G (p.Leu992Val)
|
rs779865214
|
0.00001
|
NM_015346.4(ZFYVE26):c.3016C>T (p.Arg1006Trp)
|
rs748367345
|
0.00001
|
NM_015346.4(ZFYVE26):c.3062G>A (p.Arg1021Gln)
|
rs777945768
|
0.00001
|
NM_015346.4(ZFYVE26):c.3064G>C (p.Gly1022Arg)
|
rs2039651283
|
0.00001
|
NM_015346.4(ZFYVE26):c.3104A>G (p.Asn1035Ser)
|
rs1367522203
|
0.00001
|
NM_015346.4(ZFYVE26):c.3384G>C (p.Gln1128His)
|
rs1413616312
|
0.00001
|
NM_015346.4(ZFYVE26):c.3458G>A (p.Gly1153Asp)
|
rs199845933
|
0.00001
|
NM_015346.4(ZFYVE26):c.4006T>C (p.Trp1336Arg)
|
rs755562098
|
0.00001
|
NM_015346.4(ZFYVE26):c.409G>A (p.Asp137Asn)
|
rs778916063
|
0.00001
|
NM_015346.4(ZFYVE26):c.4118C>T (p.Ala1373Val)
|
rs772325933
|
0.00001
|
NM_015346.4(ZFYVE26):c.4133G>A (p.Arg1378Gln)
|
rs554542236
|
0.00001
|
NM_015346.4(ZFYVE26):c.4154A>G (p.Gln1385Arg)
|
rs1346418518
|
0.00001
|
NM_015346.4(ZFYVE26):c.4336A>G (p.Ile1446Val)
|
rs773755777
|
0.00001
|
NM_015346.4(ZFYVE26):c.4427G>A (p.Arg1476Gln)
|
rs202124427
|
0.00001
|
NM_015346.4(ZFYVE26):c.4452G>C (p.Arg1484Ser)
|
rs368241137
|
0.00001
|
NM_015346.4(ZFYVE26):c.4594G>T (p.Val1532Leu)
|
rs1171607580
|
0.00001
|
NM_015346.4(ZFYVE26):c.4639C>A (p.Pro1547Thr)
|
rs760352672
|
0.00001
|
NM_015346.4(ZFYVE26):c.4642T>C (p.Ser1548Pro)
|
rs1035720966
|
0.00001
|
NM_015346.4(ZFYVE26):c.467T>C (p.Val156Ala)
|
rs750974953
|
0.00001
|
NM_015346.4(ZFYVE26):c.4737C>G (p.Ser1579Arg)
|
rs762109249
|
0.00001
|
NM_015346.4(ZFYVE26):c.476A>G (p.Asp159Gly)
|
rs1385627000
|
0.00001
|
NM_015346.4(ZFYVE26):c.5108A>G (p.Gln1703Arg)
|
rs2039330775
|
0.00001
|
NM_015346.4(ZFYVE26):c.520C>G (p.Leu174Val)
|
rs767276252
|
0.00001
|
NM_015346.4(ZFYVE26):c.5402C>T (p.Ala1801Val)
|
rs373003258
|
0.00001
|
NM_015346.4(ZFYVE26):c.5518C>T (p.Arg1840Trp)
|
rs761008228
|
0.00001
|
NM_015346.4(ZFYVE26):c.5791-3C>T
|
rs1334379838
|
0.00001
|
NM_015346.4(ZFYVE26):c.5962A>G (p.Met1988Val)
|
rs1401147510
|
0.00001
|
NM_015346.4(ZFYVE26):c.6111G>C (p.Arg2037Ser)
|
rs775284584
|
0.00001
|
NM_015346.4(ZFYVE26):c.6235C>T (p.Leu2079Phe)
|
rs1335661950
|
0.00001
|
NM_015346.4(ZFYVE26):c.6261T>G (p.Ser2087Arg)
|
rs762604883
|
0.00001
|
NM_015346.4(ZFYVE26):c.655T>A (p.Tyr219Asn)
|
rs746240532
|
0.00001
|
NM_015346.4(ZFYVE26):c.6679A>G (p.Ile2227Val)
|
rs1018266195
|
0.00001
|
NM_015346.4(ZFYVE26):c.6757A>G (p.Ile2253Val)
|
rs202150854
|
0.00001
|
NM_015346.4(ZFYVE26):c.6786+5T>C
|
rs863224770
|
0.00001
|
NM_015346.4(ZFYVE26):c.6817C>T (p.Arg2273Trp)
|
rs745597104
|
0.00001
|
NM_015346.4(ZFYVE26):c.686C>A (p.Ala229Glu)
|
rs199969454
|
0.00001
|
NM_015346.4(ZFYVE26):c.68G>A (p.Cys23Tyr)
|
rs757919696
|
0.00001
|
NM_015346.4(ZFYVE26):c.6920C>T (p.Ser2307Phe)
|
rs769908270
|
0.00001
|
NM_015346.4(ZFYVE26):c.7037G>A (p.Arg2346Gln)
|
rs759075168
|
0.00001
|
NM_015346.4(ZFYVE26):c.7220G>A (p.Cys2407Tyr)
|
rs760422569
|
0.00001
|
NM_015346.4(ZFYVE26):c.7318G>A (p.Gly2440Arg)
|
rs573535673
|
0.00001
|
NM_015346.4(ZFYVE26):c.7364C>T (p.Pro2455Leu)
|
rs751465927
|
0.00001
|
NM_015346.4(ZFYVE26):c.7371+3A>G
|
rs763064457
|
0.00001
|
NM_015346.4(ZFYVE26):c.7372-18T>A
|
rs372886417
|
0.00001
|
NM_015346.4(ZFYVE26):c.7411A>G (p.Asn2471Asp)
|
rs868606135
|
0.00001
|
NM_015346.4(ZFYVE26):c.7598A>G (p.His2533Arg)
|
rs750842669
|
0.00001
|
NM_015346.4(ZFYVE26):c.79G>A (p.Gly27Arg)
|
rs756912219
|
0.00001
|
NM_015346.4(ZFYVE26):c.824A>G (p.Tyr275Cys)
|
rs376544044
|
0.00001
|
NM_015346.4(ZFYVE26):c.878C>T (p.Ser293Leu)
|
rs374866062
|
0.00001
|
NM_015346.4(ZFYVE26):c.952G>A (p.Glu318Lys)
|
rs758568084
|
0.00001
|
NM_015346.4(ZFYVE26):c.956C>T (p.Ala319Val)
|
rs765552636
|
0.00001
|
NM_020435.4(GJC2):c.1027G>T (p.Ala343Ser)
|
rs1021631118
|
0.00001
|
NM_020435.4(GJC2):c.1028C>T (p.Ala343Val)
|
rs1157071248
|
0.00001
|
NM_020435.4(GJC2):c.102C>A (p.Phe34Leu)
|
rs1170317766
|
0.00001
|
NM_020435.4(GJC2):c.1038T>A (p.His346Gln)
|
rs559021726
|
0.00001
|
NM_020435.4(GJC2):c.1058T>C (p.Leu353Pro)
|
rs905863745
|
0.00001
|
NM_020435.4(GJC2):c.1102G>A (p.Asp368Asn)
|
rs779067650
|
0.00001
|
NM_020435.4(GJC2):c.1208T>C (p.Val403Ala)
|
rs1310388444
|
0.00001
|
NM_020435.4(GJC2):c.1219G>A (p.Gly407Ser)
|
rs758530794
|
0.00001
|
NM_020435.4(GJC2):c.1222C>T (p.Arg408Trp)
|
rs918865729
|
0.00001
|
NM_020435.4(GJC2):c.1228G>A (p.Gly410Ser)
|
rs780938071
|
0.00001
|
NM_020435.4(GJC2):c.1241G>T (p.Arg414Leu)
|
rs775352391
|
0.00001
|
NM_020435.4(GJC2):c.127G>A (p.Gly43Ser)
|
rs761544365
|
0.00001
|
NM_020435.4(GJC2):c.1293G>C (p.Arg431Ser)
|
rs765571379
|
0.00001
|
NM_020435.4(GJC2):c.328C>G (p.Arg110Gly)
|
rs1203025597
|
0.00001
|
NM_020435.4(GJC2):c.331C>T (p.Arg111Cys)
|
rs914561394
|
0.00001
|
NM_020435.4(GJC2):c.434A>T (p.Glu145Val)
|
rs1250327843
|
0.00001
|
NM_020435.4(GJC2):c.448C>G (p.Leu150Val)
|
rs1558119730
|
0.00001
|
NM_020435.4(GJC2):c.546_566dup (p.Ala184_Gly190dup)
|
rs758571008
|
0.00001
|
NM_020435.4(GJC2):c.595G>A (p.Asp199Asn)
|
rs772486962
|
0.00001
|
NM_020435.4(GJC2):c.697C>G (p.Leu233Val)
|
rs1359291468
|
0.00001
|
NM_020435.4(GJC2):c.739C>T (p.Arg247Cys)
|
rs1057523987
|
0.00001
|
NM_020944.3(GBA2):c.1030G>C (p.Ala344Pro)
|
rs750984776
|
0.00001
|
NM_020944.3(GBA2):c.1036A>G (p.Thr346Ala)
|
rs762266200
|
0.00001
|
NM_020944.3(GBA2):c.1073C>T (p.Thr358Met)
|
rs372699319
|
0.00001
|
NM_020944.3(GBA2):c.1723C>T (p.Arg575Trp)
|
rs146085561
|
0.00001
|
NM_020944.3(GBA2):c.1724G>A (p.Arg575Gln)
|
rs754998392
|
0.00001
|
NM_020944.3(GBA2):c.1784T>C (p.Ile595Thr)
|
rs1035304750
|
0.00001
|
NM_020944.3(GBA2):c.1905G>A (p.Thr635=)
|
rs369401526
|
0.00001
|
NM_020944.3(GBA2):c.2014G>A (p.Ala672Thr)
|
rs1313074779
|
0.00001
|
NM_020944.3(GBA2):c.2027A>G (p.Tyr676Cys)
|
rs1301982587
|
0.00001
|
NM_020944.3(GBA2):c.2173G>A (p.Ala725Thr)
|
rs1273177779
|
0.00001
|
NM_020944.3(GBA2):c.2564G>A (p.Arg855His)
|
rs762268140
|
0.00001
|
NM_020944.3(GBA2):c.2699G>A (p.Trp900Ter)
|
rs767031907
|
0.00001
|
NM_020944.3(GBA2):c.2702C>G (p.Pro901Arg)
|
rs754527190
|
0.00001
|
NM_020944.3(GBA2):c.341A>G (p.His114Arg)
|
rs1247383766
|
0.00001
|
NM_020944.3(GBA2):c.480C>T (p.Gly160=)
|
rs1473026472
|
0.00001
|
NM_020944.3(GBA2):c.548G>A (p.Arg183Gln)
|
rs202051129
|
0.00001
|
NM_020944.3(GBA2):c.704C>G (p.Ala235Gly)
|
rs1387168151
|
0.00001
|
NM_024306.5(FA2H):c.1055C>T (p.Thr352Ile)
|
rs375479162
|
0.00001
|
NM_024306.5(FA2H):c.106C>G (p.Leu36Val)
|
rs1294196562
|
0.00001
|
NM_024306.5(FA2H):c.335C>T (p.Pro112Leu)
|
rs749305581
|
0.00001
|
NM_024306.5(FA2H):c.451A>G (p.Arg151Gly)
|
rs753898846
|
0.00001
|
NM_024306.5(FA2H):c.635A>G (p.Lys212Arg)
|
rs759577964
|
0.00001
|
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg)
|
rs775750642
|
0.00001
|
NM_024306.5(FA2H):c.64G>A (p.Ala22Thr)
|
rs970436944
|
0.00001
|
NM_024306.5(FA2H):c.672C>A (p.Phe224Leu)
|
rs376180814
|
0.00001
|
NM_024306.5(FA2H):c.701A>C (p.His234Pro)
|
rs1961773594
|
0.00001
|
NM_024306.5(FA2H):c.718A>G (p.Met240Val)
|
rs367933620
|
0.00001
|
NM_024306.5(FA2H):c.763G>A (p.Val255Ile)
|
rs773459488
|
0.00001
|
NM_024306.5(FA2H):c.782A>G (p.His261Arg)
|
rs761645282
|
0.00001
|
NM_024306.5(FA2H):c.795C>T (p.Phe265=)
|
rs886043274
|
0.00001
|
NM_024306.5(FA2H):c.805C>T (p.Arg269Cys)
|
rs943671314
|
0.00001
|
NM_024306.5(FA2H):c.80T>A (p.Val27Asp)
|
rs1406286523
|
0.00001
|
NM_024306.5(FA2H):c.874C>G (p.Leu292Val)
|
rs772704885
|
0.00001
|
NM_024306.5(FA2H):c.957C>G (p.His319Gln)
|
rs1293252892
|
0.00001
|
NM_024306.5(FA2H):c.965C>T (p.Ser322Leu)
|
rs373010581
|
0.00001
|
NM_183075.3(CYP2U1):c.1033A>G (p.Ile345Val)
|
rs771350413
|
0.00001
|
NM_183075.3(CYP2U1):c.1178C>T (p.Ser393Phe)
|
rs1374309961
|
0.00001
|
NM_183075.3(CYP2U1):c.1219A>G (p.Ile407Val)
|
rs1560702525
|
0.00001
|
NM_183075.3(CYP2U1):c.1323G>C (p.Leu441Phe)
|
rs770180255
|
0.00001
|
NM_183075.3(CYP2U1):c.1481A>G (p.Gln494Arg)
|
rs1036607521
|
0.00001
|
NM_183075.3(CYP2U1):c.200C>T (p.Pro67Leu)
|
rs1286338215
|
0.00001
|
NM_183075.3(CYP2U1):c.206T>C (p.Val69Ala)
|
rs1467659782
|
0.00001
|
NM_183075.3(CYP2U1):c.267C>T (p.Ser89=)
|
rs1470602766
|
0.00001
|
NM_183075.3(CYP2U1):c.29C>A (p.Pro10Gln)
|
rs752252347
|
0.00001
|
NM_183075.3(CYP2U1):c.302T>C (p.Ile101Thr)
|
rs1053725607
|
0.00001
|
NM_183075.3(CYP2U1):c.317T>C (p.Leu106Pro)
|
rs1182340707
|
0.00001
|
NM_183075.3(CYP2U1):c.472A>C (p.Ile158Leu)
|
rs1459143146
|
0.00001
|
NM_183075.3(CYP2U1):c.502G>A (p.Ala168Thr)
|
rs369682117
|
0.00001
|
NM_183075.3(CYP2U1):c.508T>C (p.Tyr170His)
|
rs1310829853
|
0.00001
|
NM_183075.3(CYP2U1):c.557G>A (p.Arg186His)
|
rs746319505
|
0.00001
|
NM_183075.3(CYP2U1):c.565G>C (p.Gly189Arg)
|
rs1401706343
|
0.00001
|
NC_000001.10:g.(?_228337558)_(228346779_?)dup
|
|
|
NC_000001.10:g.(?_228345440)_(228363234_?)dup
|
|
|
NC_000002.11:g.(?_198351760)_(198363582_?)dup
|
|
|
NC_000002.11:g.(?_198351770)_(198351942_?)dup
|
|
|
NC_000003.11:g.(?_155545999)_(155560428_?)dup
|
|
|
NC_000003.11:g.(?_155570992)_(155571786_?)dup
|
|
|
NC_000004.12:g.(?_107944960)_(107950433_?)dup
|
|
|
NC_000008.10:g.(?_37595441)_(38961219_?)dup
|
|
|
NC_000008.10:g.(?_65509199)_(65711144_?)dup
|
|
|
NC_000012.11:g.(?_57906514)_(57976962_?)dup
|
|
|
NC_000012.11:g.(?_57960889)_(57965192_?)dup
|
|
|
NC_000012.11:g.(?_57971476)_(58025915_?)dup
|
|
|
NC_000012.11:g.(?_6573636)_(6579697_?)dup
|
|
|
NC_000013.10:g.(?_23667335)_(23985398_?)dup
|
|
|
NC_000013.10:g.(?_23667335)_(24463459_?)dup
|
|
|
NC_000014.8:g.(?_31549759)_(31554088_?)dup
|
|
|
NC_000014.8:g.(?_68145038)_(68282680_?)dup
|
|
|
NC_000014.8:g.(?_68189360)_(68260976_?)dup
|
|
|
NC_000014.8:g.(?_68217749)_(68222882_?)del
|
|
|
NC_000014.8:g.(?_68228063)_(68282680_?)dup
|
|
|
NC_000014.9:g.(?_67748426)_(67790783_?)dup
|
|
|
NC_000015.9:g.(?_51200976)_(51226914_?)dup
|
|
|
NC_000016.9:g.(?_74485954)_(75339100_?)dup
|
|
|
NC_000023.10:g.(?_152954030)_(153283591_?)dup
|
|
|
NC_000023.10:g.(?_53222149)_(53461292_?)dup
|
|
|
NC_000023.10:g.(?_73641453)_(73751408_?)dup
|
|
|
NM_001012301.4(ARSI):c.1015C>T (p.Arg339Trp)
|
|
|
NM_001012301.4(ARSI):c.1063G>A (p.Val355Met)
|
|
|
NM_001012301.4(ARSI):c.1100G>T (p.Gly367Val)
|
|
|
NM_001012301.4(ARSI):c.1114G>C (p.Asp372His)
|
rs150211860
|
|
NM_001012301.4(ARSI):c.1117G>A (p.Val373Met)
|
|
|
NM_001012301.4(ARSI):c.113A>T (p.Gln38Leu)
|
rs1554126383
|
|
NM_001012301.4(ARSI):c.1154G>T (p.Arg385Leu)
|
rs758238707
|
|
NM_001012301.4(ARSI):c.119C>G (p.Ser40Trp)
|
rs373063727
|
|
NM_001012301.4(ARSI):c.1231T>G (p.Trp411Gly)
|
rs1249725578
|
|
NM_001012301.4(ARSI):c.1240G>A (p.Ala414Thr)
|
|
|
NM_001012301.4(ARSI):c.1240G>T (p.Ala414Ser)
|
rs745663592
|
|
NM_001012301.4(ARSI):c.1247A>C (p.Gln416Pro)
|
|
|
NM_001012301.4(ARSI):c.1376G>A (p.Arg459His)
|
|
|
NM_001012301.4(ARSI):c.1376G>C (p.Arg459Pro)
|
rs140478189
|
|
NM_001012301.4(ARSI):c.1421G>A (p.Arg474Gln)
|
|
|
NM_001012301.4(ARSI):c.1421G>C (p.Arg474Pro)
|
rs149473787
|
|
NM_001012301.4(ARSI):c.1441C>T (p.Arg481Trp)
|
rs1217868286
|
|
NM_001012301.4(ARSI):c.1480G>T (p.Glu494Ter)
|
rs772103557
|
|
NM_001012301.4(ARSI):c.1489C>G (p.Arg497Gly)
|
rs199613569
|
|
NM_001012301.4(ARSI):c.1490G>A (p.Arg497His)
|
rs771311478
|
|
NM_001012301.4(ARSI):c.1528C>T (p.Arg510Trp)
|
|
|
NM_001012301.4(ARSI):c.1541A>G (p.Asp514Gly)
|
rs1562223237
|
|
NM_001012301.4(ARSI):c.1571C>T (p.Ala524Val)
|
|
|
NM_001012301.4(ARSI):c.1594G>A (p.Glu532Lys)
|
|
|
NM_001012301.4(ARSI):c.1621C>T (p.Arg541Trp)
|
|
|
NM_001012301.4(ARSI):c.1660C>T (p.Arg554Ter)
|
|
|
NM_001012301.4(ARSI):c.184G>A (p.Val62Met)
|
|
|
NM_001012301.4(ARSI):c.287C>A (p.Ser96Ter)
|
|
|
NM_001012301.4(ARSI):c.289C>T (p.Arg97Trp)
|
|
|
NM_001012301.4(ARSI):c.374C>A (p.Pro125His)
|
|
|
NM_001012301.4(ARSI):c.406C>T (p.Gln136Ter)
|
|
|
NM_001012301.4(ARSI):c.46G>A (p.Gly16Ser)
|
|
|
NM_001012301.4(ARSI):c.482G>A (p.Arg161His)
|
rs142729073
|
|
NM_001012301.4(ARSI):c.776C>T (p.Ala259Val)
|
|
|
NM_001012301.4(ARSI):c.782G>A (p.Arg261Gln)
|
|
|
NM_001012301.4(ARSI):c.847C>T (p.Arg283Cys)
|
|
|
NM_001012301.4(ARSI):c.862A>G (p.Asn288Asp)
|
|
|
NM_001012301.4(ARSI):c.908del (p.Phe303fs)
|
rs771488404
|
|
NM_001012301.4(ARSI):c.916G>A (p.Gly306Ser)
|
rs2150320319
|
|
NM_001012301.4(ARSI):c.934C>T (p.Arg312Ter)
|
|
|
NM_001012301.4(ARSI):c.946G>A (p.Gly316Ser)
|
rs2150320297
|
|
NM_001128126.3(AP4S1):c.125G>A (p.Arg42Gln)
|
|
|
NM_001128126.3(AP4S1):c.175T>C (p.Tyr59His)
|
rs762806583
|
|
NM_001128126.3(AP4S1):c.225+5G>A
|
rs2139056526
|
|
NM_001128126.3(AP4S1):c.225G>C (p.Glu75Asp)
|
|
|
NM_001128126.3(AP4S1):c.290G>T (p.Arg97Leu)
|
rs183487893
|
|
NM_001128126.3(AP4S1):c.306+40A>G
|
rs757190469
|
|
NM_001128126.3(AP4S1):c.306+4297G>C
|
|
|
NM_001128126.3(AP4S1):c.306+50G>C
|
rs1315033150
|
|
NM_001128126.3(AP4S1):c.34G>A (p.Gly12Arg)
|
|
|
NM_001128126.3(AP4S1):c.86C>G (p.Thr29Arg)
|
|
|
NM_001128126.3(AP4S1):c.98C>G (p.Thr33Arg)
|
rs763713689
|
|
NM_001278116.2(L1CAM):c.1040G>A (p.Gly347Glu)
|
rs2064751491
|
|
NM_001278116.2(L1CAM):c.1057G>A (p.Asp353Asn)
|
|
|
NM_001278116.2(L1CAM):c.1064A>G (p.Gln355Arg)
|
|
|
NM_001278116.2(L1CAM):c.1100G>A (p.Arg367Lys)
|
rs2064751060
|
|
NM_001278116.2(L1CAM):c.1123+3G>A
|
|
|
NM_001278116.2(L1CAM):c.1143G>C (p.Lys381Asn)
|
rs1185735801
|
|
NM_001278116.2(L1CAM):c.1153C>G (p.Gln385Glu)
|
|
|
NM_001278116.2(L1CAM):c.1224C>G (p.Asn408Lys)
|
rs994675918
|
|
NM_001278116.2(L1CAM):c.1268A>G (p.Gln423Arg)
|
|
|
NM_001278116.2(L1CAM):c.1294G>A (p.Asp432Asn)
|
|
|
NM_001278116.2(L1CAM):c.130C>T (p.Arg44Cys)
|
rs370782270
|
|
NM_001278116.2(L1CAM):c.132_133delinsAA (p.Leu45Met)
|
|
|
NM_001278116.2(L1CAM):c.1386C>A (p.Asp462Glu)
|
|
|
NM_001278116.2(L1CAM):c.1399A>G (p.Thr467Ala)
|
|
|
NM_001278116.2(L1CAM):c.1546G>A (p.Asp516Asn)
|
rs782367931
|
|
NM_001278116.2(L1CAM):c.1552A>G (p.Thr518Ala)
|
|
|
NM_001278116.2(L1CAM):c.1641G>C (p.Leu547Phe)
|
|
|
NM_001278116.2(L1CAM):c.1678C>T (p.Leu560Phe)
|
rs1414810082
|
|
NM_001278116.2(L1CAM):c.1691_1703+3dup
|
|
|
NM_001278116.2(L1CAM):c.16C>T (p.Arg6Trp)
|
|
|
NM_001278116.2(L1CAM):c.176C>T (p.Ala59Val)
|
rs2148500384
|
|
NM_001278116.2(L1CAM):c.1786G>C (p.Glu596Gln)
|
rs137940405
|
|
NM_001278116.2(L1CAM):c.179G>T (p.Ser60Ile)
|
|
|
NM_001278116.2(L1CAM):c.1855G>T (p.Val619Leu)
|
|
|
NM_001278116.2(L1CAM):c.1913C>A (p.Ala638Glu)
|
rs2148495969
|
|
NM_001278116.2(L1CAM):c.1939+5G>A
|
rs879253716
|
|
NM_001278116.2(L1CAM):c.2012A>G (p.Asn671Ser)
|
|
|
NM_001278116.2(L1CAM):c.2018C>T (p.Thr673Ile)
|
|
|
NM_001278116.2(L1CAM):c.203G>T (p.Arg68Leu)
|
rs2064778846
|
|
NM_001278116.2(L1CAM):c.2042C>T (p.Pro681Leu)
|
rs1557091354
|
|
NM_001278116.2(L1CAM):c.2078A>T (p.Asn693Ile)
|
|
|
NM_001278116.2(L1CAM):c.2099C>A (p.Pro700His)
|
|
|
NM_001278116.2(L1CAM):c.2117C>T (p.Thr706Ile)
|
|
|
NM_001278116.2(L1CAM):c.2195T>A (p.Val732Asp)
|
rs1569544718
|
|
NM_001278116.2(L1CAM):c.2236C>T (p.Pro746Ser)
|
|
|
NM_001278116.2(L1CAM):c.2258_2263dup (p.Gln753_Trp754dup)
|
rs2064718045
|
|
NM_001278116.2(L1CAM):c.2260T>C (p.Trp754Arg)
|
|
|
NM_001278116.2(L1CAM):c.2291A>G (p.Gln764Arg)
|
|
|
NM_001278116.2(L1CAM):c.22G>C (p.Val8Leu)
|
|
|
NM_001278116.2(L1CAM):c.2300T>C (p.Ile767Thr)
|
rs1569544704
|
|
NM_001278116.2(L1CAM):c.2329A>C (p.Asn777His)
|
|
|
NM_001278116.2(L1CAM):c.2381A>G (p.Gln794Arg)
|
|
|
NM_001278116.2(L1CAM):c.2389G>A (p.Gly797Arg)
|
|
|
NM_001278116.2(L1CAM):c.2402A>G (p.Gln801Arg)
|
|
|
NM_001278116.2(L1CAM):c.2419T>C (p.Ser807Pro)
|
|
|
NM_001278116.2(L1CAM):c.247G>A (p.Gly83Ser)
|
|
|
NM_001278116.2(L1CAM):c.2504C>T (p.Pro835Leu)
|
|
|
NM_001278116.2(L1CAM):c.250G>T (p.Val84Leu)
|
|
|
NM_001278116.2(L1CAM):c.2541A>G (p.Gly847=)
|
rs2148494333
|
|
NM_001278116.2(L1CAM):c.2562G>T (p.Arg854Ser)
|
rs1032992615
|
|
NM_001278116.2(L1CAM):c.2572C>A (p.Gln858Lys)
|
|
|
NM_001278116.2(L1CAM):c.2581_2589del (p.His861_Lys863del)
|
|
|
NM_001278116.2(L1CAM):c.2584A>G (p.Ser862Gly)
|
rs2148494141
|
|
NM_001278116.2(L1CAM):c.2593C>G (p.His865Asp)
|
|
|
NM_001278116.2(L1CAM):c.2597T>A (p.Ile866Asn)
|
|
|
NM_001278116.2(L1CAM):c.2674C>G (p.His892Asp)
|
rs2148494073
|
|
NM_001278116.2(L1CAM):c.2720G>A (p.Ser907Asn)
|
|
|
NM_001278116.2(L1CAM):c.2747G>A (p.Gly916Glu)
|
|
|
NM_001278116.2(L1CAM):c.2837G>A (p.Gly946Asp)
|
|
|
NM_001278116.2(L1CAM):c.2848G>A (p.Gly950Ser)
|
rs1569544662
|
|
NM_001278116.2(L1CAM):c.2852A>G (p.Tyr951Cys)
|
|
|
NM_001278116.2(L1CAM):c.2872+3G>A
|
|
|
NM_001278116.2(L1CAM):c.289A>G (p.Ile97Val)
|
|
|
NM_001278116.2(L1CAM):c.2996A>C (p.Glu999Ala)
|
|
|
NM_001278116.2(L1CAM):c.2999G>A (p.Gly1000Asp)
|
rs2148493606
|
|
NM_001278116.2(L1CAM):c.3014T>C (p.Ile1005Thr)
|
rs398123365
|
|
NM_001278116.2(L1CAM):c.3046+5G>C
|
|
|
NM_001278116.2(L1CAM):c.3095G>A (p.Ser1032Asn)
|
rs2148493445
|
|
NM_001278116.2(L1CAM):c.3100G>A (p.Val1034Ile)
|
|
|
NM_001278116.2(L1CAM):c.31CTC[2] (p.Leu13del)
|
rs2064809071
|
|
NM_001278116.2(L1CAM):c.3235G>A (p.Asp1079Asn)
|
|
|
NM_001278116.2(L1CAM):c.3257A>C (p.Tyr1086Ser)
|
rs2148493224
|
|
NM_001278116.2(L1CAM):c.3316G>A (p.Gly1106Ser)
|
|
|
NM_001278116.2(L1CAM):c.3370A>T (p.Ile1124Phe)
|
|
|
NM_001278116.2(L1CAM):c.3457+5C>T
|
|
|
NM_001278116.2(L1CAM):c.3520G>A (p.Gly1174Ser)
|
|
|
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)
|
|
|
NM_001278116.2(L1CAM):c.3626C>A (p.Ala1209Asp)
|
|
|
NM_001278116.2(L1CAM):c.3721A>G (p.Asn1241Asp)
|
|
|
NM_001278116.2(L1CAM):c.3734G>A (p.Gly1245Glu)
|
rs2148491886
|
|
NM_001278116.2(L1CAM):c.3752A>C (p.Asn1251Thr)
|
|
|
NM_001278116.2(L1CAM):c.3773A>T (p.Ter1258Leu)
|
|
|
NM_001278116.2(L1CAM):c.400+4C>T
|
|
|
NM_001278116.2(L1CAM):c.452G>C (p.Gly151Ala)
|
rs1064796291
|
|
NM_001278116.2(L1CAM):c.454G>A (p.Glu152Lys)
|
|
|
NM_001278116.2(L1CAM):c.484C>G (p.Pro162Ala)
|
|
|
NM_001278116.2(L1CAM):c.487A>G (p.Ser163Gly)
|
rs1603276226
|
|
NM_001278116.2(L1CAM):c.496C>G (p.Pro166Ala)
|
|
|
NM_001278116.2(L1CAM):c.64A>G (p.Ile22Val)
|
|
|
NM_001278116.2(L1CAM):c.66C>G (p.Ile22Met)
|
rs1557094388
|
|
NM_001278116.2(L1CAM):c.751C>G (p.His251Asp)
|
|
|
NM_001278116.2(L1CAM):c.806+6_806+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA
|
|
|
NM_001278116.2(L1CAM):c.806T>C (p.Phe269Ser)
|
|
|
NM_001278116.2(L1CAM):c.807-4G>T
|
|
|
NM_001278116.2(L1CAM):c.809C>T (p.Pro270Leu)
|
rs2148498057
|
|
NM_001278116.2(L1CAM):c.863T>C (p.Val288Ala)
|
|
|
NM_001278116.2(L1CAM):c.919_920delinsTT (p.Asp307Phe)
|
|
|
NM_001278116.2(L1CAM):c.958A>G (p.Ser320Gly)
|
|
|
NM_001385875.1(ZFYVE27):c.1019A>G (p.Lys340Arg)
|
|
|
NM_001385875.1(ZFYVE27):c.1024T>C (p.Tyr342His)
|
|
|
NM_001385875.1(ZFYVE27):c.1061C>T (p.Ser354Leu)
|
|
|
NM_001385875.1(ZFYVE27):c.1064C>G (p.Ala355Gly)
|
rs2048607269
|
|
NM_001385875.1(ZFYVE27):c.1159A>C (p.Met387Leu)
|
rs1590113165
|
|
NM_001385875.1(ZFYVE27):c.1211C>T (p.Ser404Leu)
|
|
|
NM_001385875.1(ZFYVE27):c.187T>C (p.Tyr63His)
|
|
|
NM_001385875.1(ZFYVE27):c.198-1G>A
|
|
|
NM_001385875.1(ZFYVE27):c.290C>T (p.Ala97Val)
|
|
|
NM_001385875.1(ZFYVE27):c.341G>A (p.Arg114Gln)
|
|
|
NM_001385875.1(ZFYVE27):c.367A>T (p.Met123Leu)
|
|
|
NM_001385875.1(ZFYVE27):c.416G>C (p.Arg139Pro)
|
|
|
NM_001385875.1(ZFYVE27):c.49G>A (p.Val17Met)
|
|
|
NM_001385875.1(ZFYVE27):c.661del (p.Arg221fs)
|
|
|
NM_001385875.1(ZFYVE27):c.662G>A (p.Arg221Gln)
|
|
|
NM_001385875.1(ZFYVE27):c.736C>T (p.Pro246Ser)
|
|
|
NM_001385875.1(ZFYVE27):c.787G>A (p.Ala263Thr)
|
rs2136198619
|
|
NM_001385875.1(ZFYVE27):c.804+1G>C
|
rs369834453
|
|
NM_001385875.1(ZFYVE27):c.805-27C>T
|
|
|
NM_001385875.1(ZFYVE27):c.953A>G (p.Asn318Ser)
|
|
|
NM_001478.5(B4GALNT1):c.1002G>T (p.Lys334Asn)
|
rs1471760048
|
|
NM_001478.5(B4GALNT1):c.1011C>T (p.Phe337=)
|
|
|
NM_001478.5(B4GALNT1):c.1052A>C (p.Tyr351Ser)
|
|
|
NM_001478.5(B4GALNT1):c.1061_1063del (p.Trp354_Val355delinsLeu)
|
|
|
NM_001478.5(B4GALNT1):c.1069G>C (p.Asp357His)
|
|
|
NM_001478.5(B4GALNT1):c.1071C>A (p.Asp357Glu)
|
|
|
NM_001478.5(B4GALNT1):c.1085C>T (p.Thr362Met)
|
|
|
NM_001478.5(B4GALNT1):c.1114_1119del (p.Asp372_Val373del)
|
rs771698791
|
|
NM_001478.5(B4GALNT1):c.1124A>C (p.Glu375Ala)
|
rs754757482
|
|
NM_001478.5(B4GALNT1):c.1147G>C (p.Gly383Arg)
|
rs952948389
|
|
NM_001478.5(B4GALNT1):c.1178C>T (p.Ala393Val)
|
|
|
NM_001478.5(B4GALNT1):c.1190G>C (p.Arg397Pro)
|
|
|
NM_001478.5(B4GALNT1):c.1203C>A (p.Ser401Arg)
|
|
|
NM_001478.5(B4GALNT1):c.1204G>C (p.Val402Leu)
|
|
|
NM_001478.5(B4GALNT1):c.1210C>T (p.Pro404Ser)
|
|
|
NM_001478.5(B4GALNT1):c.1217C>A (p.Ala406Asp)
|
rs2140243098
|
|
NM_001478.5(B4GALNT1):c.1315T>C (p.Phe439Leu)
|
|
|
NM_001478.5(B4GALNT1):c.1317C>A (p.Phe439Leu)
|
|
|
NM_001478.5(B4GALNT1):c.1378C>T (p.His460Tyr)
|
rs1594978157
|
|
NM_001478.5(B4GALNT1):c.1384+3G>A
|
|
|
NM_001478.5(B4GALNT1):c.1384+7G>A
|
|
|
NM_001478.5(B4GALNT1):c.1389C>A (p.Phe463Leu)
|
|
|
NM_001478.5(B4GALNT1):c.1390T>C (p.Phe464Leu)
|
|
|
NM_001478.5(B4GALNT1):c.1395G>A (p.Leu465=)
|
rs1330953460
|
|
NM_001478.5(B4GALNT1):c.139C>T (p.Arg47Cys)
|
|
|
NM_001478.5(B4GALNT1):c.1432G>A (p.Asp478Asn)
|
rs762763123
|
|
NM_001478.5(B4GALNT1):c.1438G>A (p.Val480Met)
|
rs747864083
|
|
NM_001478.5(B4GALNT1):c.1438G>T (p.Val480Leu)
|
rs747864083
|
|
NM_001478.5(B4GALNT1):c.14G>A (p.Arg5His)
|
|
|
NM_001478.5(B4GALNT1):c.1533C>G (p.Asp511Glu)
|
|
|
NM_001478.5(B4GALNT1):c.1541A>G (p.Gln514Arg)
|
|
|
NM_001478.5(B4GALNT1):c.1556G>C (p.Arg519Pro)
|
rs751593187
|
|
NM_001478.5(B4GALNT1):c.19G>A (p.Ala7Thr)
|
|
|
NM_001478.5(B4GALNT1):c.217G>A (p.Gly73Arg)
|
rs867792876
|
|
NM_001478.5(B4GALNT1):c.218G>C (p.Gly73Ala)
|
|
|
NM_001478.5(B4GALNT1):c.219-7C>A
|
rs138590413
|
|
NM_001478.5(B4GALNT1):c.236A>G (p.Asn79Ser)
|
|
|
NM_001478.5(B4GALNT1):c.245G>A (p.Cys82Tyr)
|
rs1885201541
|
|
NM_001478.5(B4GALNT1):c.256G>A (p.Gly86Arg)
|
|
|
NM_001478.5(B4GALNT1):c.256G>T (p.Gly86Trp)
|
rs919097197
|
|
NM_001478.5(B4GALNT1):c.258G>A (p.Gly86=)
|
|
|
NM_001478.5(B4GALNT1):c.260G>A (p.Gly87Glu)
|
rs1426969942
|
|
NM_001478.5(B4GALNT1):c.28G>T (p.Ala10Ser)
|
|
|
NM_001478.5(B4GALNT1):c.323C>T (p.Pro108Leu)
|
|
|
NM_001478.5(B4GALNT1):c.357G>T (p.Glu119Asp)
|
|
|
NM_001478.5(B4GALNT1):c.391T>C (p.Ser131Pro)
|
|
|
NM_001478.5(B4GALNT1):c.460G>A (p.Val154Ile)
|
|
|
NM_001478.5(B4GALNT1):c.466C>T (p.Pro156Ser)
|
|
|
NM_001478.5(B4GALNT1):c.503A>G (p.Gln168Arg)
|
rs2140250034
|
|
NM_001478.5(B4GALNT1):c.514G>A (p.Gly172Ser)
|
rs810205
|
|
NM_001478.5(B4GALNT1):c.531+5G>A
|
|
|
NM_001478.5(B4GALNT1):c.589A>G (p.Thr197Ala)
|
|
|
NM_001478.5(B4GALNT1):c.592C>T (p.Leu198Phe)
|
rs928391643
|
|
NM_001478.5(B4GALNT1):c.5G>T (p.Trp2Leu)
|
|
|
NM_001478.5(B4GALNT1):c.644A>G (p.Gln215Arg)
|
|
|
NM_001478.5(B4GALNT1):c.67C>G (p.Leu23Val)
|
|
|
NM_001478.5(B4GALNT1):c.683G>A (p.Arg228Gln)
|
|
|
NM_001478.5(B4GALNT1):c.754C>A (p.Arg252Ser)
|
|
|
NM_001478.5(B4GALNT1):c.778C>G (p.Arg260Gly)
|
|
|
NM_001478.5(B4GALNT1):c.807G>C (p.Gln269His)
|
rs2140246556
|
|
NM_001478.5(B4GALNT1):c.80C>A (p.Thr27Asn)
|
|
|
NM_001478.5(B4GALNT1):c.830C>G (p.Ala277Gly)
|
|
|
NM_001478.5(B4GALNT1):c.866A>T (p.Tyr289Phe)
|
|
|
NM_001478.5(B4GALNT1):c.914C>T (p.Thr305Met)
|
|
|
NM_001478.5(B4GALNT1):c.943G>A (p.Asp315Asn)
|
|
|
NM_001478.5(B4GALNT1):c.991C>T (p.Pro331Ser)
|
|
|
NM_002156.5(HSPD1):c.1022A>C (p.Asp341Ala)
|
|
|
NM_002156.5(HSPD1):c.1067T>G (p.Met356Arg)
|
rs2106071590
|
|
NM_002156.5(HSPD1):c.1089C>G (p.Asp363Glu)
|
|
|
NM_002156.5(HSPD1):c.1090A>G (p.Lys364Glu)
|
|
|
NM_002156.5(HSPD1):c.1109G>A (p.Arg370His)
|
|
|
NM_002156.5(HSPD1):c.110G>A (p.Arg37Gln)
|
|
|
NM_002156.5(HSPD1):c.1130A>G (p.Gln377Arg)
|
|
|
NM_002156.5(HSPD1):c.1157A>C (p.Glu386Ala)
|
|
|
NM_002156.5(HSPD1):c.1175A>G (p.Glu392Gly)
|
|
|
NM_002156.5(HSPD1):c.1180C>T (p.Leu394Phe)
|
|
|
NM_002156.5(HSPD1):c.1186A>G (p.Lys396Glu)
|
|
|
NM_002156.5(HSPD1):c.1189C>G (p.Leu397Val)
|
|
|
NM_002156.5(HSPD1):c.120G>C (p.Met40Ile)
|
|
|
NM_002156.5(HSPD1):c.122T>C (p.Leu41Pro)
|
|
|
NM_002156.5(HSPD1):c.12A>T (p.Leu4Phe)
|
|
|
NM_002156.5(HSPD1):c.130G>A (p.Val44Ile)
|
rs2086193983
|
|
NM_002156.5(HSPD1):c.1324T>C (p.Cys442Arg)
|
rs1553577750
|
|
NM_002156.5(HSPD1):c.1391-12A>G
|
|
|
NM_002156.5(HSPD1):c.1393A>G (p.Ile465Val)
|
rs1395703930
|
|
NM_002156.5(HSPD1):c.1429A>G (p.Met477Val)
|
|
|
NM_002156.5(HSPD1):c.1443G>C (p.Lys481Asn)
|
|
|
NM_002156.5(HSPD1):c.1462T>A (p.Ser488Thr)
|
|
|
NM_002156.5(HSPD1):c.1474G>C (p.Glu492Gln)
|
rs1390512592
|
|
NM_002156.5(HSPD1):c.1530T>A (p.Phe510Leu)
|
|
|
NM_002156.5(HSPD1):c.1556T>C (p.Ile519Thr)
|
rs2086045656
|
|
NM_002156.5(HSPD1):c.1565C>G (p.Thr522Arg)
|
|
|
NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val)
|
rs863224878
|
|
NM_002156.5(HSPD1):c.1651A>G (p.Lys551Glu)
|
|
|
NM_002156.5(HSPD1):c.1661A>T (p.Lys554Met)
|
|
|
NM_002156.5(HSPD1):c.1676G>A (p.Gly559Asp)
|
|
|
NM_002156.5(HSPD1):c.1701_1712del (p.565GGGM[1])
|
rs879486164
|
|
NM_002156.5(HSPD1):c.238G>A (p.Val80Ile)
|
|
|
NM_002156.5(HSPD1):c.248C>A (p.Ser83Ter)
|
rs2086171680
|
|
NM_002156.5(HSPD1):c.253G>T (p.Asp85Tyr)
|
|
|
NM_002156.5(HSPD1):c.264T>G (p.Asp88Glu)
|
rs747360903
|
|
NM_002156.5(HSPD1):c.307A>C (p.Asn103His)
|
rs2106079220
|
|
NM_002156.5(HSPD1):c.30G>C (p.Gln10His)
|
rs774482203
|
|
NM_002156.5(HSPD1):c.398A>G (p.Lys133Arg)
|
|
|
NM_002156.5(HSPD1):c.445G>C (p.Asp149His)
|
rs781225976
|
|
NM_002156.5(HSPD1):c.467A>G (p.Lys156Arg)
|
|
|
NM_002156.5(HSPD1):c.478A>G (p.Lys160Glu)
|
rs2086144311
|
|
NM_002156.5(HSPD1):c.491C>T (p.Thr164Ile)
|
|
|
NM_002156.5(HSPD1):c.498A>T (p.Glu166Asp)
|
|
|
NM_002156.5(HSPD1):c.518C>T (p.Thr173Met)
|
|
|
NM_002156.5(HSPD1):c.524C>A (p.Ser175Tyr)
|
|
|
NM_002156.5(HSPD1):c.526G>T (p.Ala176Ser)
|
rs2086137164
|
|
NM_002156.5(HSPD1):c.532G>A (p.Gly178Arg)
|
rs763177690
|
|
NM_002156.5(HSPD1):c.568A>G (p.Met190Val)
|
rs772071575
|
|
NM_002156.5(HSPD1):c.607-3T>C
|
|
|
NM_002156.5(HSPD1):c.61C>G (p.His21Asp)
|
|
|
NM_002156.5(HSPD1):c.623A>C (p.Asn208Thr)
|
|
|
NM_002156.5(HSPD1):c.623A>G (p.Asn208Ser)
|
|
|
NM_002156.5(HSPD1):c.62A>C (p.His21Pro)
|
rs780655407
|
|
NM_002156.5(HSPD1):c.649A>G (p.Met217Val)
|
|
|
NM_002156.5(HSPD1):c.655T>G (p.Phe219Val)
|
|
|
NM_002156.5(HSPD1):c.668A>G (p.Tyr223Cys)
|
|
|
NM_002156.5(HSPD1):c.697A>C (p.Lys233Gln)
|
rs864622156
|
|
NM_002156.5(HSPD1):c.747G>T (p.Lys249Asn)
|
|
|
NM_002156.5(HSPD1):c.754T>G (p.Ser252Ala)
|
|
|
NM_002156.5(HSPD1):c.815T>C (p.Val272Ala)
|
|
|
NM_002156.5(HSPD1):c.881G>A (p.Gly294Asp)
|
rs2086074548
|
|
NM_002156.5(HSPD1):c.929A>G (p.Lys310Arg)
|
|
|
NM_002156.5(HSPD1):c.946A>G (p.Met316Val)
|
|
|
NM_002156.5(HSPD1):c.95T>G (p.Phe32Cys)
|
rs757619883
|
|
NM_002156.5(HSPD1):c.968C>G (p.Ala323Gly)
|
|
|
NM_004187.5(KDM5C):c.1117A>G (p.Met373Val)
|
|
|
NM_004187.5(KDM5C):c.126C>T (p.Gly42=)
|
|
|
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser)
|
rs2073559814
|
|
NM_004187.5(KDM5C):c.1378C>T (p.Arg460Trp)
|
|
|
NM_004187.5(KDM5C):c.1382A>G (p.His461Arg)
|
|
|
NM_004187.5(KDM5C):c.1405T>G (p.Tyr469Asp)
|
|
|
NM_004187.5(KDM5C):c.1514G>A (p.Gly505Asp)
|
|
|
NM_004187.5(KDM5C):c.1622C>T (p.Ala541Val)
|
rs2146914547
|
|
NM_004187.5(KDM5C):c.1793C>G (p.Pro598Arg)
|
|
|
NM_004187.5(KDM5C):c.1823G>A (p.Gly608Asp)
|
|
|
NM_004187.5(KDM5C):c.1921G>A (p.Val641Ile)
|
|
|
NM_004187.5(KDM5C):c.1953G>A (p.Met651Ile)
|
rs2073142756
|
|
NM_004187.5(KDM5C):c.1996G>T (p.Val666Leu)
|
|
|
NM_004187.5(KDM5C):c.2155C>G (p.Leu719Val)
|
rs2073060850
|
|
NM_004187.5(KDM5C):c.2231G>A (p.Arg744Gln)
|
|
|
NM_004187.5(KDM5C):c.228G>A (p.Glu76=)
|
|
|
NM_004187.5(KDM5C):c.2315C>A (p.Thr772Asn)
|
|
|
NM_004187.5(KDM5C):c.2369-3C>T
|
|
|
NM_004187.5(KDM5C):c.242T>A (p.Val81Glu)
|
|
|
NM_004187.5(KDM5C):c.2460T>G (p.Ser820Arg)
|
|
|
NM_004187.5(KDM5C):c.2496G>T (p.Leu832=)
|
rs139444870
|
|
NM_004187.5(KDM5C):c.2575C>A (p.Gln859Lys)
|
|
|
NM_004187.5(KDM5C):c.2596G>A (p.Ala866Thr)
|
|
|
NM_004187.5(KDM5C):c.2696G>A (p.Gly899Glu)
|
|
|
NM_004187.5(KDM5C):c.2806C>T (p.Arg936Cys)
|
|
|
NM_004187.5(KDM5C):c.2831G>A (p.Arg944Lys)
|
|
|
NM_004187.5(KDM5C):c.2849T>C (p.Met950Thr)
|
|
|
NM_004187.5(KDM5C):c.2863G>A (p.Val955Ile)
|
|
|
NM_004187.5(KDM5C):c.2912C>T (p.Ala971Val)
|
|
|
NM_004187.5(KDM5C):c.3120A>G (p.Gln1040=)
|
|
|
NM_004187.5(KDM5C):c.3253G>T (p.Ala1085Ser)
|
|
|
NM_004187.5(KDM5C):c.3344G>A (p.Arg1115His)
|
|
|
NM_004187.5(KDM5C):c.3380A>G (p.Lys1127Arg)
|
rs782201107
|
|
NM_004187.5(KDM5C):c.3539C>T (p.Thr1180Met)
|
|
|
NM_004187.5(KDM5C):c.3554C>T (p.Thr1185Ile)
|
|
|
NM_004187.5(KDM5C):c.3592G>A (p.Gly1198Arg)
|
|
|
NM_004187.5(KDM5C):c.3677A>G (p.Asn1226Ser)
|
|
|
NM_004187.5(KDM5C):c.3700G>A (p.Ala1234Thr)
|
|
|
NM_004187.5(KDM5C):c.3716A>G (p.Asp1239Gly)
|
rs1602161687
|
|
NM_004187.5(KDM5C):c.3948G>T (p.Gln1316His)
|
|
|
NM_004187.5(KDM5C):c.3961C>A (p.Pro1321Thr)
|
|
|
NM_004187.5(KDM5C):c.3961C>G (p.Pro1321Ala)
|
|
|
NM_004187.5(KDM5C):c.3961C>T (p.Pro1321Ser)
|
|
|
NM_004187.5(KDM5C):c.3988G>A (p.Ala1330Thr)
|
rs1602160910
|
|
NM_004187.5(KDM5C):c.3988G>T (p.Ala1330Ser)
|
|
|
NM_004187.5(KDM5C):c.4019G>C (p.Ser1340Thr)
|
|
|
NM_004187.5(KDM5C):c.4022G>A (p.Gly1341Asp)
|
|
|
NM_004187.5(KDM5C):c.4022G>C (p.Gly1341Ala)
|
rs2146819122
|
|
NM_004187.5(KDM5C):c.4045G>T (p.Gly1349Cys)
|
|
|
NM_004187.5(KDM5C):c.4066A>G (p.Ser1356Gly)
|
|
|
NM_004187.5(KDM5C):c.4072A>G (p.Thr1358Ala)
|
|
|
NM_004187.5(KDM5C):c.4136C>T (p.Ser1379Leu)
|
rs2146815694
|
|
NM_004187.5(KDM5C):c.4228G>A (p.Glu1410Lys)
|
|
|
NM_004187.5(KDM5C):c.4312C>G (p.Leu1438Val)
|
|
|
NM_004187.5(KDM5C):c.4317+2T>C
|
|
|
NM_004187.5(KDM5C):c.4318-7A>G
|
|
|
NM_004187.5(KDM5C):c.4333C>T (p.Arg1445Cys)
|
|
|
NM_004187.5(KDM5C):c.4376G>A (p.Arg1459Gln)
|
|
|
NM_004187.5(KDM5C):c.4394G>A (p.Arg1465Gln)
|
rs1184598695
|
|
NM_004187.5(KDM5C):c.4478A>G (p.Gln1493Arg)
|
|
|
NM_004187.5(KDM5C):c.44C>T (p.Pro15Leu)
|
|
|
NM_004187.5(KDM5C):c.4507G>A (p.Gly1503Arg)
|
rs2146812137
|
|
NM_004187.5(KDM5C):c.4517G>A (p.Gly1506Asp)
|
rs1315455348
|
|
NM_004187.5(KDM5C):c.4564A>G (p.Asn1522Asp)
|
|
|
NM_004187.5(KDM5C):c.4603G>A (p.Gly1535Ser)
|
|
|
NM_004187.5(KDM5C):c.4648C>T (p.Pro1550Ser)
|
|
|
NM_004187.5(KDM5C):c.61T>C (p.Trp21Arg)
|
|
|
NM_004187.5(KDM5C):c.626A>G (p.Tyr209Cys)
|
|
|
NM_004187.5(KDM5C):c.631C>T (p.Arg211Trp)
|
|
|
NM_004187.5(KDM5C):c.772C>T (p.Arg258Trp)
|
|
|
NM_004187.5(KDM5C):c.835G>C (p.Gly279Arg)
|
rs2073727852
|
|
NM_004187.5(KDM5C):c.862C>G (p.Pro288Ala)
|
rs2073726827
|
|
NM_004187.5(KDM5C):c.865A>C (p.Lys289Gln)
|
|
|
NM_004187.5(KDM5C):c.889G>C (p.Glu297Gln)
|
|
|
NM_004733.4(SLC33A1):c.1036G>T (p.Ala346Ser)
|
|
|
NM_004733.4(SLC33A1):c.1075C>A (p.Leu359Met)
|
|
|
NM_004733.4(SLC33A1):c.1209A>G (p.Gln403=)
|
|
|
NM_004733.4(SLC33A1):c.1223T>C (p.Ile408Thr)
|
|
|
NM_004733.4(SLC33A1):c.1268T>C (p.Val423Ala)
|
|
|
NM_004733.4(SLC33A1):c.1284G>A (p.Met428Ile)
|
|
|
NM_004733.4(SLC33A1):c.1298T>C (p.Met433Thr)
|
|
|
NM_004733.4(SLC33A1):c.1300G>A (p.Ala434Thr)
|
rs1252296385
|
|
NM_004733.4(SLC33A1):c.1315G>A (p.Val439Ile)
|
|
|
NM_004733.4(SLC33A1):c.1396G>C (p.Val466Leu)
|
rs769973927
|
|
NM_004733.4(SLC33A1):c.1420C>T (p.Leu474Phe)
|
|
|
NM_004733.4(SLC33A1):c.1433_1434del (p.Glu478fs)
|
|
|
NM_004733.4(SLC33A1):c.1438G>A (p.Val480Ile)
|
rs747418232
|
|
NM_004733.4(SLC33A1):c.1511_1521del (p.Val504fs)
|
rs772861569
|
|
NM_004733.4(SLC33A1):c.1535T>C (p.Val512Ala)
|
rs2109302362
|
|
NM_004733.4(SLC33A1):c.154C>G (p.Leu52Val)
|
rs756790835
|
|
NM_004733.4(SLC33A1):c.1559T>G (p.Ile520Ser)
|
rs777143987
|
|
NM_004733.4(SLC33A1):c.1615G>T (p.Gly539Ter)
|
|
|
NM_004733.4(SLC33A1):c.1646A>G (p.Asn549Ser)
|
rs1752264956
|
|
NM_004733.4(SLC33A1):c.190G>A (p.Ala64Thr)
|
rs1332360610
|
|
NM_004733.4(SLC33A1):c.194C>G (p.Pro65Arg)
|
rs1753513411
|
|
NM_004733.4(SLC33A1):c.213A>C (p.Glu71Asp)
|
|
|
NM_004733.4(SLC33A1):c.319A>G (p.Thr107Ala)
|
|
|
NM_004733.4(SLC33A1):c.405G>C (p.Lys135Asn)
|
|
|
NM_004733.4(SLC33A1):c.46C>A (p.Pro16Thr)
|
|
|
NM_004733.4(SLC33A1):c.491G>A (p.Arg164His)
|
rs1394665239
|
|
NM_004733.4(SLC33A1):c.61C>G (p.His21Asp)
|
|
|
NM_004733.4(SLC33A1):c.710C>A (p.Ser237Tyr)
|
|
|
NM_004733.4(SLC33A1):c.715G>A (p.Asp239Asn)
|
|
|
NM_004733.4(SLC33A1):c.811A>G (p.Thr271Ala)
|
|
|
NM_004733.4(SLC33A1):c.848_850del (p.Glu283del)
|
rs757509671
|
|
NM_004733.4(SLC33A1):c.928G>A (p.Val310Ile)
|
rs2107980673
|
|
NM_004733.4(SLC33A1):c.956C>T (p.Thr319Ile)
|
|
|
NM_004733.4(SLC33A1):c.958G>T (p.Ala320Ser)
|
|
|
NM_004733.4(SLC33A1):c.98G>A (p.Gly33Asp)
|
|
|
NM_004820.5(CYP7B1):c.1027A>G (p.Arg343Gly)
|
|
|
NM_004820.5(CYP7B1):c.1037T>C (p.Leu346Ser)
|
rs778365454
|
|
NM_004820.5(CYP7B1):c.1039G>A (p.Asp347Asn)
|
rs2129630164
|
|
NM_004820.5(CYP7B1):c.104T>C (p.Leu35Ser)
|
rs2129747643
|
|
NM_004820.5(CYP7B1):c.104T>G (p.Leu35Trp)
|
rs2129747643
|
|
NM_004820.5(CYP7B1):c.105G>C (p.Leu35Phe)
|
rs1563432681
|
|
NM_004820.5(CYP7B1):c.105G>T (p.Leu35Phe)
|
rs1563432681
|
|
NM_004820.5(CYP7B1):c.1091C>T (p.Ser364Leu)
|
rs770065565
|
|
NM_004820.5(CYP7B1):c.110T>A (p.Val37Asp)
|
|
|
NM_004820.5(CYP7B1):c.110T>C (p.Val37Ala)
|
|
|
NM_004820.5(CYP7B1):c.1151A>T (p.Asp384Val)
|
|
|
NM_004820.5(CYP7B1):c.1160T>C (p.Val387Ala)
|
|
|
NM_004820.5(CYP7B1):c.116G>A (p.Arg39His)
|
|
|
NM_004820.5(CYP7B1):c.1171G>T (p.Asp391Tyr)
|
|
|
NM_004820.5(CYP7B1):c.1183A>G (p.Ile395Val)
|
|
|
NM_004820.5(CYP7B1):c.118A>C (p.Thr40Pro)
|
|
|
NM_004820.5(CYP7B1):c.1190C>T (p.Pro397Leu)
|
|
|
NM_004820.5(CYP7B1):c.122+2dup
|
|
|
NM_004820.5(CYP7B1):c.1222G>A (p.Glu408Lys)
|
rs2129629940
|
|
NM_004820.5(CYP7B1):c.123-3T>C
|
rs2129630435
|
|
NM_004820.5(CYP7B1):c.1233+5G>A
|
|
|
NM_004820.5(CYP7B1):c.137C>T (p.Pro46Leu)
|
|
|
NM_004820.5(CYP7B1):c.1390G>A (p.Val464Ile)
|
|
|
NM_004820.5(CYP7B1):c.13G>C (p.Val5Leu)
|
rs1266572347
|
|
NM_004820.5(CYP7B1):c.1438A>G (p.Ile480Val)
|
rs1185020031
|
|
NM_004820.5(CYP7B1):c.1441G>A (p.Gly481Arg)
|
rs1212638244
|
|
NM_004820.5(CYP7B1):c.1442G>T (p.Gly481Val)
|
|
|
NM_004820.5(CYP7B1):c.1456C>A (p.Arg486Ser)
|
rs116171274
|
|
NM_004820.5(CYP7B1):c.1474C>T (p.Gln492Ter)
|
rs2129629748
|
|
NM_004820.5(CYP7B1):c.1481C>A (p.Pro494Gln)
|
rs1394882103
|
|
NM_004820.5(CYP7B1):c.1481C>T (p.Pro494Leu)
|
rs1394882103
|
|
NM_004820.5(CYP7B1):c.1485T>A (p.Asp495Glu)
|
|
|
NM_004820.5(CYP7B1):c.167T>C (p.Leu56Pro)
|
rs1412631149
|
|
NM_004820.5(CYP7B1):c.176T>C (p.Val59Ala)
|
rs369433292
|
|
NM_004820.5(CYP7B1):c.191A>G (p.Lys64Arg)
|
rs2129630430
|
|
NM_004820.5(CYP7B1):c.193G>A (p.Asp65Asn)
|
|
|
NM_004820.5(CYP7B1):c.197C>G (p.Pro66Arg)
|
rs878854745
|
|
NM_004820.5(CYP7B1):c.1A>G (p.Met1Val)
|
rs891749853
|
|
NM_004820.5(CYP7B1):c.204G>C (p.Arg68Ser)
|
rs377119798
|
|
NM_004820.5(CYP7B1):c.204G>T (p.Arg68Ser)
|
rs377119798
|
|
NM_004820.5(CYP7B1):c.217C>T (p.Leu73Phe)
|
|
|
NM_004820.5(CYP7B1):c.248T>G (p.Val83Gly)
|
|
|
NM_004820.5(CYP7B1):c.251T>G (p.Leu84Arg)
|
rs952824008
|
|
NM_004820.5(CYP7B1):c.260G>T (p.Gly87Val)
|
rs587777221
|
|
NM_004820.5(CYP7B1):c.265T>C (p.Tyr89His)
|
|
|
NM_004820.5(CYP7B1):c.266A>G (p.Tyr89Cys)
|
|
|
NM_004820.5(CYP7B1):c.26C>T (p.Thr9Met)
|
rs779597828
|
|
NM_004820.5(CYP7B1):c.271A>G (p.Thr91Ala)
|
rs1805446410
|
|
NM_004820.5(CYP7B1):c.337G>A (p.Val113Ile)
|
|
|
NM_004820.5(CYP7B1):c.344C>G (p.Ser115Cys)
|
rs762579939
|
|
NM_004820.5(CYP7B1):c.344C>T (p.Ser115Phe)
|
|
|
NM_004820.5(CYP7B1):c.359A>C (p.Glu120Ala)
|
rs2129630220
|
|
NM_004820.5(CYP7B1):c.416A>T (p.His139Leu)
|
|
|
NM_004820.5(CYP7B1):c.418C>T (p.Leu140Phe)
|
|
|
NM_004820.5(CYP7B1):c.438A>G (p.Gln146=)
|
|
|
NM_004820.5(CYP7B1):c.456A>G (p.Ile152Met)
|
rs1805441459
|
|
NM_004820.5(CYP7B1):c.463G>A (p.Glu155Lys)
|
|
|
NM_004820.5(CYP7B1):c.473T>A (p.Met158Lys)
|
|
|
NM_004820.5(CYP7B1):c.500C>G (p.Pro167Arg)
|
rs1173341823
|
|
NM_004820.5(CYP7B1):c.517A>C (p.Thr173Pro)
|
|
|
NM_004820.5(CYP7B1):c.521G>T (p.Ser174Ile)
|
|
|
NM_004820.5(CYP7B1):c.529A>G (p.Thr177Ala)
|
|
|
NM_004820.5(CYP7B1):c.535G>A (p.Glu179Lys)
|
|
|
NM_004820.5(CYP7B1):c.537A>T (p.Glu179Asp)
|
rs2129630212
|
|
NM_004820.5(CYP7B1):c.56T>G (p.Leu19Arg)
|
rs72554624
|
|
NM_004820.5(CYP7B1):c.575C>T (p.Thr192Ile)
|
|
|
NM_004820.5(CYP7B1):c.592G>C (p.Gly198Arg)
|
rs1805436635
|
|
NM_004820.5(CYP7B1):c.59C>A (p.Pro20Gln)
|
|
|
NM_004820.5(CYP7B1):c.612CAA[2] (p.Asn206del)
|
rs755178154
|
|
NM_004820.5(CYP7B1):c.614A>G (p.Asn205Ser)
|
|
|
NM_004820.5(CYP7B1):c.619A>G (p.Lys207Glu)
|
rs863224730
|
|
NM_004820.5(CYP7B1):c.635T>C (p.Leu212Pro)
|
|
|
NM_004820.5(CYP7B1):c.650T>C (p.Leu217Ser)
|
rs1245262159
|
|
NM_004820.5(CYP7B1):c.653A>G (p.Lys218Arg)
|
rs2129630203
|
|
NM_004820.5(CYP7B1):c.680T>C (p.Val227Ala)
|
rs2129630201
|
|
NM_004820.5(CYP7B1):c.704T>C (p.Leu235Pro)
|
|
|
NM_004820.5(CYP7B1):c.74C>A (p.Ala25Asp)
|
|
|
NM_004820.5(CYP7B1):c.771G>T (p.Met257Ile)
|
|
|
NM_004820.5(CYP7B1):c.80C>T (p.Ala27Val)
|
|
|
NM_004820.5(CYP7B1):c.815A>G (p.Glu272Gly)
|
rs1585808076
|
|
NM_004820.5(CYP7B1):c.830A>C (p.His277Pro)
|
rs145521868
|
|
NM_004820.5(CYP7B1):c.831C>A (p.His277Gln)
|
|
|
NM_004820.5(CYP7B1):c.835G>T (p.Asp279Tyr)
|
rs766759427
|
|
NM_004820.5(CYP7B1):c.850+3A>G
|
rs2129630188
|
|
NM_004820.5(CYP7B1):c.850+4del
|
|
|
NM_004820.5(CYP7B1):c.854A>G (p.His285Arg)
|
rs750781606
|
|
NM_004820.5(CYP7B1):c.88C>T (p.Leu30Phe)
|
|
|
NM_004820.5(CYP7B1):c.8_10del (p.Gly3del)
|
rs1460521602
|
|
NM_004820.5(CYP7B1):c.902T>C (p.Met301Thr)
|
rs370002054
|
|
NM_004820.5(CYP7B1):c.907T>G (p.Trp303Gly)
|
rs1430400622
|
|
NM_004820.5(CYP7B1):c.943A>G (p.Met315Val)
|
|
|
NM_004820.5(CYP7B1):c.970C>A (p.Arg324Ser)
|
rs773055558
|
|
NM_004820.5(CYP7B1):c.970C>G (p.Arg324Gly)
|
rs773055558
|
|
NM_004820.5(CYP7B1):c.98T>C (p.Leu33Pro)
|
|
|
NM_004984.2(KIF5A):c.2993del
|
rs1882639725
|
|
NM_004984.4(KIF5A):c.-1_15del (p.Met1fs)
|
|
|
NM_004984.4(KIF5A):c.103C>A (p.Gln35Lys)
|
rs2140150213
|
|
NM_004984.4(KIF5A):c.1042_1044del (p.Lys348del)
|
rs2140163232
|
|
NM_004984.4(KIF5A):c.1046A>G (p.Glu349Gly)
|
|
|
NM_004984.4(KIF5A):c.1082C>A (p.Ala361Glu)
|
|
|
NM_004984.4(KIF5A):c.1082C>G (p.Ala361Gly)
|
|
|
NM_004984.4(KIF5A):c.1091A>G (p.Glu364Gly)
|
|
|
NM_004984.4(KIF5A):c.1097A>G (p.Glu366Gly)
|
rs2140163300
|
|
NM_004984.4(KIF5A):c.1106G>A (p.Arg369Gln)
|
|
|
NM_004984.4(KIF5A):c.1112G>A (p.Arg371His)
|
|
|
NM_004984.4(KIF5A):c.1116T>C (p.Asn372=)
|
|
|
NM_004984.4(KIF5A):c.1116T>G (p.Asn372Lys)
|
rs754551006
|
|
NM_004984.4(KIF5A):c.1124A>G (p.Asn375Ser)
|
|
|
NM_004984.4(KIF5A):c.1142G>T (p.Arg381Leu)
|
rs755855553
|
|
NM_004984.4(KIF5A):c.1148C>T (p.Ala383Val)
|
|
|
NM_004984.4(KIF5A):c.1151G>A (p.Gly384Glu)
|
|
|
NM_004984.4(KIF5A):c.1153G>A (p.Glu385Lys)
|
rs753854351
|
|
NM_004984.4(KIF5A):c.1156G>C (p.Glu386Gln)
|
rs1052752751
|
|
NM_004984.4(KIF5A):c.1160C>T (p.Ala387Val)
|
rs2140163615
|
|
NM_004984.4(KIF5A):c.1163C>A (p.Ala388Asp)
|
rs1882197501
|
|
NM_004984.4(KIF5A):c.1171G>A (p.Ala391Thr)
|
|
|
NM_004984.4(KIF5A):c.1181G>A (p.Cys394Tyr)
|
|
|
NM_004984.4(KIF5A):c.1190C>A (p.Thr397Asn)
|
rs2140163650
|
|
NM_004984.4(KIF5A):c.1199A>G (p.Asn400Ser)
|
|
|
NM_004984.4(KIF5A):c.1208C>T (p.Ser403Leu)
|
|
|
NM_004984.4(KIF5A):c.1213A>G (p.Ile405Val)
|
rs1313023330
|
|
NM_004984.4(KIF5A):c.1215C>A (p.Ile405=)
|
|
|
NM_004984.4(KIF5A):c.1216G>A (p.Val406Met)
|
|
|
NM_004984.4(KIF5A):c.121G>A (p.Val41Ile)
|
rs1881531764
|
|
NM_004984.4(KIF5A):c.1222C>A (p.Arg408Ser)
|
rs767181570
|
|
NM_004984.4(KIF5A):c.1225A>G (p.Ile409Val)
|
|
|
NM_004984.4(KIF5A):c.1228G>A (p.Ala410Thr)
|
|
|
NM_004984.4(KIF5A):c.1252G>A (p.Glu418Lys)
|
|
|
NM_004984.4(KIF5A):c.1255G>A (p.Glu419Lys)
|
|
|
NM_004984.4(KIF5A):c.1257G>T (p.Glu419Asp)
|
rs781663145
|
|
NM_004984.4(KIF5A):c.1261A>C (p.Ile421Leu)
|
|
|
NM_004984.4(KIF5A):c.126T>G (p.Ile42Met)
|
rs149569914
|
|
NM_004984.4(KIF5A):c.1274A>G (p.Tyr425Cys)
|
|
|
NM_004984.4(KIF5A):c.128G>C (p.Gly43Ala)
|
|
|
NM_004984.4(KIF5A):c.129+6T>A
|
|
|
NM_004984.4(KIF5A):c.1293+16C>T
|
|
|
NM_004984.4(KIF5A):c.1297G>A (p.Asp433Asn)
|
|
|
NM_004984.4(KIF5A):c.129G>A (p.Gly43=)
|
|
|
NM_004984.4(KIF5A):c.1305C>G (p.Ile435Met)
|
|
|
NM_004984.4(KIF5A):c.1307A>C (p.Asn436Thr)
|
|
|
NM_004984.4(KIF5A):c.1312C>G (p.Gln438Glu)
|
rs2140164723
|
|
NM_004984.4(KIF5A):c.1316G>C (p.Ser439Thr)
|
|
|
NM_004984.4(KIF5A):c.1357G>A (p.Glu453Lys)
|
|
|
NM_004984.4(KIF5A):c.1362+3A>C
|
|
|
NM_004984.4(KIF5A):c.136C>G (p.Pro46Ala)
|
|
|
NM_004984.4(KIF5A):c.1384G>C (p.Asp462His)
|
|
|
NM_004984.4(KIF5A):c.1397T>C (p.Val466Ala)
|
rs2140165191
|
|
NM_004984.4(KIF5A):c.13A>G (p.Asn5Asp)
|
|
|
NM_004984.4(KIF5A):c.1409T>C (p.Leu470Pro)
|
|
|
NM_004984.4(KIF5A):c.1416C>G (p.His472Gln)
|
|
|
NM_004984.4(KIF5A):c.1422A>T (p.Gln474His)
|
rs1373971092
|
|
NM_004984.4(KIF5A):c.1429A>G (p.Asn477Asp)
|
rs1882274569
|
|
NM_004984.4(KIF5A):c.1435G>A (p.Ala479Thr)
|
rs2140165233
|
|
NM_004984.4(KIF5A):c.1450G>T (p.Val484Leu)
|
|
|
NM_004984.4(KIF5A):c.1468G>A (p.Ala490Thr)
|
|
|
NM_004984.4(KIF5A):c.1486G>A (p.Val496Met)
|
rs2140165263
|
|
NM_004984.4(KIF5A):c.151C>G (p.Arg51Gly)
|
rs769763596
|
|
NM_004984.4(KIF5A):c.1527C>A (p.Ser509Arg)
|
|
|
NM_004984.4(KIF5A):c.1537C>G (p.Gln513Glu)
|
|
|
NM_004984.4(KIF5A):c.1540C>A (p.Leu514Ile)
|
|
|
NM_004984.4(KIF5A):c.1541T>A (p.Leu514His)
|
rs2140165294
|
|
NM_004984.4(KIF5A):c.1550A>T (p.Asp517Val)
|
|
|
NM_004984.4(KIF5A):c.1562A>G (p.Gln521Arg)
|
|
|
NM_004984.4(KIF5A):c.1569+4A>G
|
|
|
NM_004984.4(KIF5A):c.1570-20A>G
|
|
|
NM_004984.4(KIF5A):c.1570-7T>C
|
rs2140165527
|
|
NM_004984.4(KIF5A):c.157T>C (p.Phe53Leu)
|
|
|
NM_004984.4(KIF5A):c.1588G>C (p.Glu530Gln)
|
|
|
NM_004984.4(KIF5A):c.1589A>G (p.Glu530Gly)
|
|
|
NM_004984.4(KIF5A):c.158T>C (p.Phe53Ser)
|
rs1555177348
|
|
NM_004984.4(KIF5A):c.1601A>G (p.Gln534Arg)
|
|
|
NM_004984.4(KIF5A):c.1618A>G (p.Ser540Gly)
|
rs1882291000
|
|
NM_004984.4(KIF5A):c.1637G>T (p.Arg546Leu)
|
|
|
NM_004984.4(KIF5A):c.163C>G (p.Pro55Ala)
|
|
|
NM_004984.4(KIF5A):c.1648G>A (p.Val550Met)
|
rs2140165608
|
|
NM_004984.4(KIF5A):c.164C>G (p.Pro55Arg)
|
|
|
NM_004984.4(KIF5A):c.1656C>G (p.Asn552Lys)
|
rs776685173
|
|
NM_004984.4(KIF5A):c.166A>C (p.Asn56His)
|
rs1162282839
|
|
NM_004984.4(KIF5A):c.1671T>A (p.Asp557Glu)
|
rs1594919820
|
|
NM_004984.4(KIF5A):c.1685G>A (p.Ser562Asn)
|
rs2140165648
|
|
NM_004984.4(KIF5A):c.1705G>A (p.Glu569Lys)
|
|
|
NM_004984.4(KIF5A):c.1716+10G>A
|
|
|
NM_004984.4(KIF5A):c.1717-10A>G
|
|
|
NM_004984.4(KIF5A):c.1729A>G (p.Ser577Gly)
|
|
|
NM_004984.4(KIF5A):c.1741GAG[2] (p.Glu583del)
|
|
|
NM_004984.4(KIF5A):c.1741GAG[4] (p.Glu583dup)
|
rs1882381684
|
|
NM_004984.4(KIF5A):c.1759G>A (p.Ala587Thr)
|
|
|
NM_004984.4(KIF5A):c.1771A>G (p.Ile591Val)
|
|
|
NM_004984.4(KIF5A):c.1796A>C (p.Lys599Thr)
|
|
|
NM_004984.4(KIF5A):c.1811G>A (p.Arg604Gln)
|
rs931757596
|
|
NM_004984.4(KIF5A):c.1816C>T (p.Arg606Trp)
|
|
|
NM_004984.4(KIF5A):c.1829A>G (p.Asn610Ser)
|
rs978303061
|
|
NM_004984.4(KIF5A):c.1829A>T (p.Asn610Ile)
|
rs978303061
|
|
NM_004984.4(KIF5A):c.1849C>G (p.Arg617Gly)
|
|
|
NM_004984.4(KIF5A):c.184G>C (p.Val62Leu)
|
rs2140158758
|
|
NM_004984.4(KIF5A):c.1894C>T (p.Leu632Phe)
|
|
|
NM_004984.4(KIF5A):c.1897A>G (p.Ile633Val)
|
|
|
NM_004984.4(KIF5A):c.1905+5G>A
|
|
|
NM_004984.4(KIF5A):c.1906-15A>G
|
|
|
NM_004984.4(KIF5A):c.1909G>A (p.Glu637Lys)
|
|
|
NM_004984.4(KIF5A):c.1921C>T (p.Arg641Cys)
|
|
|
NM_004984.4(KIF5A):c.1955T>C (p.Leu652Pro)
|
|
|
NM_004984.4(KIF5A):c.1958A>G (p.Lys653Arg)
|
|
|
NM_004984.4(KIF5A):c.1982A>G (p.Tyr661Cys)
|
|
|
NM_004984.4(KIF5A):c.1994G>A (p.Ser665Asn)
|
|
|
NM_004984.4(KIF5A):c.199G>C (p.Ala67Pro)
|
|
|
NM_004984.4(KIF5A):c.2010G>C (p.Lys670Asn)
|
|
|
NM_004984.4(KIF5A):c.2039T>C (p.Val680Ala)
|
|
|
NM_004984.4(KIF5A):c.203T>C (p.Met68Thr)
|
|
|
NM_004984.4(KIF5A):c.203T>G (p.Met68Arg)
|
|
|
NM_004984.4(KIF5A):c.2083G>A (p.Val695Met)
|
|
|
NM_004984.4(KIF5A):c.2088+3G>A
|
|
|
NM_004984.4(KIF5A):c.2114G>T (p.Ser705Ile)
|
|
|
NM_004984.4(KIF5A):c.2139G>C (p.Gln713His)
|
rs2140168258
|
|
NM_004984.4(KIF5A):c.2153G>A (p.Arg718Gln)
|
|
|
NM_004984.4(KIF5A):c.2155G>T (p.Asp719Tyr)
|
|
|
NM_004984.4(KIF5A):c.2158G>A (p.Glu720Lys)
|
|
|
NM_004984.4(KIF5A):c.2159A>T (p.Glu720Val)
|
rs2140168286
|
|
NM_004984.4(KIF5A):c.215A>G (p.Lys72Arg)
|
|
|
NM_004984.4(KIF5A):c.2162T>G (p.Ile721Ser)
|
rs879254299
|
|
NM_004984.4(KIF5A):c.217+6A>C
|
|
|
NM_004984.4(KIF5A):c.2175G>C (p.Gln725His)
|
|
|
NM_004984.4(KIF5A):c.2180C>A (p.Thr727Asn)
|
|
|
NM_004984.4(KIF5A):c.2180C>T (p.Thr727Ile)
|
|
|
NM_004984.4(KIF5A):c.2198+4A>G
|
|
|
NM_004984.4(KIF5A):c.2198+6G>C
|
|
|
NM_004984.4(KIF5A):c.2216A>G (p.Gln739Arg)
|
rs2140168633
|
|
NM_004984.4(KIF5A):c.2227G>A (p.Glu743Lys)
|
rs1369177203
|
|
NM_004984.4(KIF5A):c.2240C>G (p.Ala747Gly)
|
rs749023785
|
|
NM_004984.4(KIF5A):c.2261G>T (p.Ser754Ile)
|
rs1882441483
|
|
NM_004984.4(KIF5A):c.2262C>G (p.Ser754Arg)
|
rs143260492
|
|
NM_004984.4(KIF5A):c.2275A>C (p.Lys759Gln)
|
|
|
NM_004984.4(KIF5A):c.2278A>G (p.Ser760Gly)
|
|
|
NM_004984.4(KIF5A):c.22T>C (p.Cys8Arg)
|
|
|
NM_004984.4(KIF5A):c.2300C>G (p.Thr767Arg)
|
rs765493045
|
|
NM_004984.4(KIF5A):c.2300C>T (p.Thr767Ile)
|
|
|
NM_004984.4(KIF5A):c.230G>A (p.Gly77Asp)
|
rs1060502525
|
|
NM_004984.4(KIF5A):c.2315G>A (p.Arg772Gln)
|
rs537001094
|
|
NM_004984.4(KIF5A):c.2327C>T (p.Ser776Phe)
|
|
|
NM_004984.4(KIF5A):c.2333A>G (p.Gln778Arg)
|
rs2140169276
|
|
NM_004984.4(KIF5A):c.2358A>G (p.Thr786=)
|
|
|
NM_004984.4(KIF5A):c.2360T>C (p.Val787Ala)
|
rs2140169303
|
|
NM_004984.4(KIF5A):c.2361+6T>C
|
|
|
NM_004984.4(KIF5A):c.2383C>T (p.His795Tyr)
|
|
|
NM_004984.4(KIF5A):c.2390T>C (p.Leu797Pro)
|
|
|
NM_004984.4(KIF5A):c.2393G>A (p.Arg798His)
|
rs940071825
|
|
NM_004984.4(KIF5A):c.2434A>G (p.Ser812Gly)
|
|
|
NM_004984.4(KIF5A):c.2436T>G (p.Ser812Arg)
|
|
|
NM_004984.4(KIF5A):c.244A>G (p.Ile82Val)
|
|
|
NM_004984.4(KIF5A):c.2480A>G (p.Lys827Arg)
|
rs1882491979
|
|
NM_004984.4(KIF5A):c.2483AGA[1] (p.Lys829del)
|
|
|
NM_004984.4(KIF5A):c.2492C>T (p.Ser831Phe)
|
rs193920755
|
|
NM_004984.4(KIF5A):c.2538+5G>C
|
rs2140169708
|
|
NM_004984.4(KIF5A):c.2539-14G>A
|
|
|
NM_004984.4(KIF5A):c.2539C>A (p.Leu847Met)
|
|
|
NM_004984.4(KIF5A):c.2545C>T (p.Arg849Cys)
|
rs2140171409
|
|
NM_004984.4(KIF5A):c.2578A>C (p.Lys860Gln)
|
|
|
NM_004984.4(KIF5A):c.260A>G (p.Gln87Arg)
|
|
|
NM_004984.4(KIF5A):c.2618A>C (p.Lys873Thr)
|
|
|
NM_004984.4(KIF5A):c.2621C>G (p.Ala874Gly)
|
|
|
NM_004984.4(KIF5A):c.2629G>A (p.Gly877Ser)
|
|
|
NM_004984.4(KIF5A):c.2653G>A (p.Gly885Ser)
|
|
|
NM_004984.4(KIF5A):c.2656G>T (p.Ala886Ser)
|
rs1017745641
|
|
NM_004984.4(KIF5A):c.2659_2674del (p.Met887fs)
|
rs2140171473
|
|
NM_004984.4(KIF5A):c.2664G>T (p.Lys888Asn)
|
|
|
NM_004984.4(KIF5A):c.266C>A (p.Ser89Tyr)
|
rs2140158856
|
|
NM_004984.4(KIF5A):c.2672G>T (p.Arg891Leu)
|
|
|
NM_004984.4(KIF5A):c.2674C>T (p.Arg892Trp)
|
rs267603612
|
|
NM_004984.4(KIF5A):c.2695C>A (p.Arg899Ser)
|
|
|
NM_004984.4(KIF5A):c.2695C>T (p.Arg899Cys)
|
|
|
NM_004984.4(KIF5A):c.2696G>A (p.Arg899His)
|
|
|
NM_004984.4(KIF5A):c.269C>T (p.Ser90Leu)
|
rs1060502524
|
|
NM_004984.4(KIF5A):c.2719A>G (p.Lys907Glu)
|
|
|
NM_004984.4(KIF5A):c.2722A>C (p.Ser908Arg)
|
rs2140171539
|
|
NM_004984.4(KIF5A):c.2723G>C (p.Ser908Thr)
|
rs748632605
|
|
NM_004984.4(KIF5A):c.2726C>T (p.Ser909Leu)
|
rs267603613
|
|
NM_004984.4(KIF5A):c.272G>A (p.Gly91Glu)
|
|
|
NM_004984.4(KIF5A):c.2732A>C (p.Lys911Thr)
|
|
|
NM_004984.4(KIF5A):c.2732A>G (p.Lys911Arg)
|
rs199953180
|
|
NM_004984.4(KIF5A):c.2735G>C (p.Arg912Pro)
|
|
|
NM_004984.4(KIF5A):c.2738G>T (p.Gly913Val)
|
|
|
NM_004984.4(KIF5A):c.2741A>G (p.His914Arg)
|
rs1882585121
|
|
NM_004984.4(KIF5A):c.2755+3G>C
|
rs1416076720
|
|
NM_004984.4(KIF5A):c.2755+4A>C
|
|
|
NM_004984.4(KIF5A):c.275A>C (p.Lys92Thr)
|
rs2140158867
|
|
NM_004984.4(KIF5A):c.2764G>A (p.Val922Ile)
|
rs763041798
|
|
NM_004984.4(KIF5A):c.2771C>T (p.Pro924Leu)
|
|
|
NM_004984.4(KIF5A):c.2778C>A (p.His926Gln)
|
|
|
NM_004984.4(KIF5A):c.2788T>C (p.Ser930Pro)
|
|
|
NM_004984.4(KIF5A):c.2800A>G (p.Asn934Asp)
|
|
|
NM_004984.4(KIF5A):c.2804C>T (p.Pro935Leu)
|
rs1272664645
|
|
NM_004984.4(KIF5A):c.2807A>G (p.Tyr936Cys)
|
|
|
NM_004984.4(KIF5A):c.280C>T (p.His94Tyr)
|
|
|
NM_004984.4(KIF5A):c.2810G>A (p.Gly937Asp)
|
|
|
NM_004984.4(KIF5A):c.2826del (p.Glu942fs)
|
rs1594926154
|
|
NM_004984.4(KIF5A):c.2833A>G (p.Ser945Gly)
|
|
|
NM_004984.4(KIF5A):c.2837A>G (p.Tyr946Cys)
|
|
|
NM_004984.4(KIF5A):c.2840C>G (p.Thr947Ser)
|
|
|
NM_004984.4(KIF5A):c.2843A>G (p.Asn948Ser)
|
|
|
NM_004984.4(KIF5A):c.2869C>T (p.Leu957Phe)
|
rs1882602063
|
|
NM_004984.4(KIF5A):c.28A>G (p.Ile10Val)
|
rs2140150109
|
|
NM_004984.4(KIF5A):c.2902G>C (p.Asp968His)
|
rs764332673
|
|
NM_004984.4(KIF5A):c.2909+4A>G
|
rs2140171881
|
|
NM_004984.4(KIF5A):c.2909A>G (p.Tyr970Cys)
|
rs1484472471
|
|
NM_004984.4(KIF5A):c.291+6G>C
|
|
|
NM_004984.4(KIF5A):c.2910-3C>G
|
|
|
NM_004984.4(KIF5A):c.2910-4_2910-3delinsTT
|
rs2140172085
|
|
NM_004984.4(KIF5A):c.2922C>T (p.Ser974=)
|
|
|
NM_004984.4(KIF5A):c.2923T>G (p.Cys975Gly)
|
|
|
NM_004984.4(KIF5A):c.2930G>A (p.Ser977Asn)
|
|
|
NM_004984.4(KIF5A):c.2934T>G (p.Ser978Arg)
|
|
|
NM_004984.4(KIF5A):c.2936G>A (p.Gly979Glu)
|
|
|
NM_004984.4(KIF5A):c.2936G>C (p.Gly979Ala)
|
rs1156869738
|
|
NM_004984.4(KIF5A):c.2945C>T (p.Ser982Phe)
|
rs1211468940
|
|
NM_004984.4(KIF5A):c.2953G>T (p.Gly985Cys)
|
rs371548640
|
|
NM_004984.4(KIF5A):c.2956C>A (p.Pro986Thr)
|
|
|
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg)
|
rs113247976
|
|
NM_004984.4(KIF5A):c.297G>T (p.Lys99Asn)
|
|
|
NM_004984.4(KIF5A):c.2993-16A>G
|
rs1172104617
|
|
NM_004984.4(KIF5A):c.2994_2996del (p.Asn999del)
|
|
|
NM_004984.4(KIF5A):c.2996del (p.Asn999fs)
|
rs2140172678
|
|
NM_004984.4(KIF5A):c.3002C>T (p.Thr1001Ile)
|
rs2140172682
|
|
NM_004984.4(KIF5A):c.3002del (p.Thr1001fs)
|
|
|
NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly)
|
rs1882640177
|
|
NM_004984.4(KIF5A):c.3017A>G (p.Asn1006Ser)
|
rs2140172688
|
|
NM_004984.4(KIF5A):c.3020+3A>G
|
|
|
NM_004984.4(KIF5A):c.3020G>T (p.Arg1007Met)
|
|
|
NM_004984.4(KIF5A):c.3027C>G (p.Asp1009Glu)
|
|
|
NM_004984.4(KIF5A):c.3031C>A (p.Pro1011Thr)
|
|
|
NM_004984.4(KIF5A):c.3036T>G (p.Cys1012Trp)
|
|
|
NM_004984.4(KIF5A):c.3041A>G (p.Tyr1014Cys)
|
|
|
NM_004984.4(KIF5A):c.304G>A (p.Asp102Asn)
|
|
|
NM_004984.4(KIF5A):c.3055C>G (p.Gln1019Glu)
|
rs2140173025
|
|
NM_004984.4(KIF5A):c.3074T>C (p.Leu1025Pro)
|
|
|
NM_004984.4(KIF5A):c.3082G>A (p.Glu1028Lys)
|
rs1882658654
|
|
NM_004984.4(KIF5A):c.3086C>T (p.Thr1029Ile)
|
|
|
NM_004984.4(KIF5A):c.3089C>A (p.Ala1030Glu)
|
rs1206507768
|
|
NM_004984.4(KIF5A):c.3091G>C (p.Ala1031Pro)
|
rs749631031
|
|
NM_004984.4(KIF5A):c.327T>G (p.Ile109Met)
|
rs777103564
|
|
NM_004984.4(KIF5A):c.334A>G (p.Ile112Val)
|
|
|
NM_004984.4(KIF5A):c.343G>A (p.Asp115Asn)
|
|
|
NM_004984.4(KIF5A):c.37C>G (p.Leu13Val)
|
|
|
NM_004984.4(KIF5A):c.382G>A (p.Glu128Lys)
|
rs2140159178
|
|
NM_004984.4(KIF5A):c.396+5C>T
|
|
|
NM_004984.4(KIF5A):c.3G>A (p.Met1Ile)
|
|
|
NM_004984.4(KIF5A):c.414T>G (p.Ile138Met)
|
|
|
NM_004984.4(KIF5A):c.41G>A (p.Cys14Tyr)
|
|
|
NM_004984.4(KIF5A):c.427A>C (p.Ile143Leu)
|
|
|
NM_004984.4(KIF5A):c.428T>C (p.Ile143Thr)
|
rs2140159373
|
|
NM_004984.4(KIF5A):c.431G>A (p.Arg144His)
|
|
|
NM_004984.4(KIF5A):c.433G>C (p.Asp145His)
|
rs1060502522
|
|
NM_004984.4(KIF5A):c.472G>A (p.Glu158Lys)
|
|
|
NM_004984.4(KIF5A):c.474G>T (p.Glu158Asp)
|
|
|
NM_004984.4(KIF5A):c.475G>T (p.Asp159Tyr)
|
|
|
NM_004984.4(KIF5A):c.485G>A (p.Arg162Gln)
|
|
|
NM_004984.4(KIF5A):c.4_5delinsAA (p.Ala2Lys)
|
rs2140150082
|
|
NM_004984.4(KIF5A):c.500A>C (p.Lys167Thr)
|
rs2140159698
|
|
NM_004984.4(KIF5A):c.501+6A>C
|
rs2140159703
|
|
NM_004984.4(KIF5A):c.502-9C>A
|
rs755065220
|
|
NM_004984.4(KIF5A):c.502G>A (p.Gly168Ser)
|
rs2140161194
|
|
NM_004984.4(KIF5A):c.503G>A (p.Gly168Asp)
|
|
|
NM_004984.4(KIF5A):c.506G>A (p.Cys169Tyr)
|
|
|
NM_004984.4(KIF5A):c.514C>T (p.Arg172Cys)
|
rs1159429693
|
|
NM_004984.4(KIF5A):c.530C>G (p.Pro177Arg)
|
rs1319232269
|
|
NM_004984.4(KIF5A):c.544G>T (p.Asp182Tyr)
|
|
|
NM_004984.4(KIF5A):c.551T>C (p.Ile184Thr)
|
rs1882089233
|
|
NM_004984.4(KIF5A):c.565T>G (p.Ser189Ala)
|
rs2140161267
|
|
NM_004984.4(KIF5A):c.571C>T (p.Arg191Cys)
|
|
|
NM_004984.4(KIF5A):c.577G>A (p.Val193Met)
|
|
|
NM_004984.4(KIF5A):c.580G>A (p.Ala194Thr)
|
|
|
NM_004984.4(KIF5A):c.583G>A (p.Val195Ile)
|
|
|
NM_004984.4(KIF5A):c.586A>G (p.Thr196Ala)
|
rs1565697675
|
|
NM_004984.4(KIF5A):c.589+9G>C
|
|
|
NM_004984.4(KIF5A):c.590-3C>T
|
rs1882102799
|
|
NM_004984.4(KIF5A):c.593T>C (p.Met198Thr)
|
|
|
NM_004984.4(KIF5A):c.597T>G (p.Asn199Lys)
|
rs11172251
|
|
NM_004984.4(KIF5A):c.621C>A (p.Ser207Arg)
|
|
|
NM_004984.4(KIF5A):c.627C>G (p.Phe209Leu)
|
|
|
NM_004984.4(KIF5A):c.673A>T (p.Ser225Cys)
|
rs911601615
|
|
NM_004984.4(KIF5A):c.691G>T (p.Val231Leu)
|
rs2140161619
|
|
NM_004984.4(KIF5A):c.698T>C (p.Leu233Pro)
|
rs1594915468
|
|
NM_004984.4(KIF5A):c.705G>T (p.Gly235=)
|
|
|
NM_004984.4(KIF5A):c.714+6G>C
|
rs1882106517
|
|
NM_004984.4(KIF5A):c.719G>T (p.Ser240Ile)
|
rs2140162534
|
|
NM_004984.4(KIF5A):c.730G>C (p.Ala244Pro)
|
rs1594916621
|
|
NM_004984.4(KIF5A):c.730_731delinsAA (p.Ala244Lys)
|
rs2140162546
|
|
NM_004984.4(KIF5A):c.73C>G (p.Leu25Val)
|
|
|
NM_004984.4(KIF5A):c.742G>A (p.Val248Met)
|
|
|
NM_004984.4(KIF5A):c.742G>T (p.Val248Leu)
|
|
|
NM_004984.4(KIF5A):c.754G>C (p.Ala252Pro)
|
|
|
NM_004984.4(KIF5A):c.763A>G (p.Ile255Val)
|
rs2140162576
|
|
NM_004984.4(KIF5A):c.765CAA[1] (p.Asn256del)
|
rs1565698514
|
|
NM_004984.4(KIF5A):c.772T>C (p.Ser258Pro)
|
rs1882158696
|
|
NM_004984.4(KIF5A):c.782C>T (p.Ala261Val)
|
rs2140162600
|
|
NM_004984.4(KIF5A):c.788G>A (p.Gly263Asp)
|
rs2140162605
|
|
NM_004984.4(KIF5A):c.79G>A (p.Gly27Arg)
|
|
|
NM_004984.4(KIF5A):c.802G>T (p.Ala268Ser)
|
rs139015012
|
|
NM_004984.4(KIF5A):c.808G>T (p.Ala270Ser)
|
rs2140162633
|
|
NM_004984.4(KIF5A):c.809C>G (p.Ala270Gly)
|
|
|
NM_004984.4(KIF5A):c.813G>A (p.Glu271=)
|
rs772172027
|
|
NM_004984.4(KIF5A):c.820-3C>T
|
|
|
NM_004984.4(KIF5A):c.824G>A (p.Ser275Asn)
|
rs2140162832
|
|
NM_004984.4(KIF5A):c.826T>C (p.Tyr276His)
|
rs2140162837
|
|
NM_004984.4(KIF5A):c.857G>C (p.Arg286Thr)
|
rs1224640834
|
|
NM_004984.4(KIF5A):c.86A>T (p.Lys29Met)
|
rs2140150198
|
|
NM_004984.4(KIF5A):c.872C>T (p.Ser291Phe)
|
rs761812789
|
|
NM_004984.4(KIF5A):c.877G>A (p.Gly293Arg)
|
|
|
NM_004984.4(KIF5A):c.889C>T (p.Arg297Trp)
|
rs1416085161
|
|
NM_004984.4(KIF5A):c.890G>A (p.Arg297Gln)
|
rs1404057685
|
|
NM_004984.4(KIF5A):c.890G>T (p.Arg297Leu)
|
|
|
NM_004984.4(KIF5A):c.892A>G (p.Thr298Ala)
|
|
|
NM_004984.4(KIF5A):c.893C>T (p.Thr298Met)
|
rs1303126235
|
|
NM_004984.4(KIF5A):c.899T>A (p.Met300Lys)
|
rs1290797018
|
|
NM_004984.4(KIF5A):c.922A>G (p.Ser308Gly)
|
|
|
NM_004984.4(KIF5A):c.92T>C (p.Ile31Thr)
|
|
|
NM_004984.4(KIF5A):c.933T>A (p.Asp311Glu)
|
|
|
NM_004984.4(KIF5A):c.934G>T (p.Ala312Ser)
|
|
|
NM_004984.4(KIF5A):c.935C>T (p.Ala312Val)
|
rs2140162971
|
|
NM_004984.4(KIF5A):c.941C>A (p.Thr314Asn)
|
|
|
NM_004984.4(KIF5A):c.965A>G (p.Gln322Arg)
|
|
|
NM_004984.4(KIF5A):c.967C>A (p.Arg323=)
|
|
|
NM_004984.4(KIF5A):c.968G>A (p.Arg323Gln)
|
rs2140163000
|
|
NM_004984.4(KIF5A):c.970G>A (p.Ala324Thr)
|
rs1882179319
|
|
NM_004984.4(KIF5A):c.977C>G (p.Thr326Ser)
|
|
|
NM_004984.4(KIF5A):c.97A>G (p.Ile33Val)
|
|
|
NM_004984.4(KIF5A):c.997G>A (p.Val333Ile)
|
|
|
NM_005619.5(RTN2):c.1018G>T (p.Asp340Tyr)
|
|
|
NM_005619.5(RTN2):c.1033+4G>A
|
|
|
NM_005619.5(RTN2):c.1053G>T (p.Trp351Cys)
|
|
|
NM_005619.5(RTN2):c.1067C>T (p.Thr356Met)
|
|
|
NM_005619.5(RTN2):c.1141G>A (p.Ala381Thr)
|
|
|
NM_005619.5(RTN2):c.1142C>T (p.Ala381Val)
|
|
|
NM_005619.5(RTN2):c.1213C>T (p.His405Tyr)
|
|
|
NM_005619.5(RTN2):c.1216C>T (p.Arg406Trp)
|
rs977755323
|
|
NM_005619.5(RTN2):c.1220G>A (p.Gly407Glu)
|
|
|
NM_005619.5(RTN2):c.1254T>A (p.Asp418Glu)
|
|
|
NM_005619.5(RTN2):c.1259A>G (p.Asp420Gly)
|
rs1968091401
|
|
NM_005619.5(RTN2):c.1283C>A (p.Thr428Lys)
|
rs74368484
|
|
NM_005619.5(RTN2):c.1283C>T (p.Thr428Met)
|
|
|
NM_005619.5(RTN2):c.1288C>T (p.Arg430Cys)
|
|
|
NM_005619.5(RTN2):c.1313G>A (p.Arg438His)
|
|
|
NM_005619.5(RTN2):c.134A>T (p.Glu45Val)
|
|
|
NM_005619.5(RTN2):c.1375C>T (p.Leu459Phe)
|
rs1555797475
|
|
NM_005619.5(RTN2):c.1399A>T (p.Ile467Phe)
|
rs1420083691
|
|
NM_005619.5(RTN2):c.142GAG[2] (p.Glu50del)
|
rs767238040
|
|
NM_005619.5(RTN2):c.1486C>T (p.Arg496Trp)
|
|
|
NM_005619.5(RTN2):c.1487G>T (p.Arg496Leu)
|
rs752465413
|
|
NM_005619.5(RTN2):c.1557G>A (p.Lys519=)
|
rs1968007903
|
|
NM_005619.5(RTN2):c.1560C>G (p.Ile520Met)
|
|
|
NM_005619.5(RTN2):c.1621AAAGCC[1] (p.541KA[1])
|
|
|
NM_005619.5(RTN2):c.1624G>T (p.Ala542Ser)
|
|
|
NM_005619.5(RTN2):c.232C>T (p.Arg78Cys)
|
rs2122228490
|
|
NM_005619.5(RTN2):c.257C>T (p.Pro86Leu)
|
rs758002007
|
|
NM_005619.5(RTN2):c.272G>A (p.Arg91His)
|
|
|
NM_005619.5(RTN2):c.337C>T (p.Pro113Ser)
|
|
|
NM_005619.5(RTN2):c.392C>T (p.Pro131Leu)
|
|
|
NM_005619.5(RTN2):c.407C>T (p.Pro136Leu)
|
|
|
NM_005619.5(RTN2):c.440T>C (p.Leu147Pro)
|
rs1968232374
|
|
NM_005619.5(RTN2):c.446G>T (p.Trp149Leu)
|
rs750521507
|
|
NM_005619.5(RTN2):c.455G>C (p.Arg152Pro)
|
|
|
NM_005619.5(RTN2):c.482C>A (p.Ser161Tyr)
|
rs770628974
|
|
NM_005619.5(RTN2):c.526C>T (p.Pro176Ser)
|
rs772248018
|
|
NM_005619.5(RTN2):c.554G>A (p.Gly185Glu)
|
|
|
NM_005619.5(RTN2):c.580C>T (p.Leu194Phe)
|
|
|
NM_005619.5(RTN2):c.671C>T (p.Ser224Leu)
|
|
|
NM_005619.5(RTN2):c.713A>G (p.Glu238Gly)
|
rs1968222442
|
|
NM_005619.5(RTN2):c.745G>A (p.Glu249Lys)
|
rs761286207
|
|
NM_005619.5(RTN2):c.745G>C (p.Glu249Gln)
|
rs761286207
|
|
NM_005619.5(RTN2):c.754A>T (p.Arg252Trp)
|
|
|
NM_005619.5(RTN2):c.797T>G (p.Val266Gly)
|
|
|
NM_005619.5(RTN2):c.815G>A (p.Gly272Glu)
|
|
|
NM_005619.5(RTN2):c.859T>A (p.Tyr287Asn)
|
|
|
NM_005619.5(RTN2):c.916G>C (p.Val306Leu)
|
rs181791404
|
|
NM_005619.5(RTN2):c.928C>T (p.Pro310Ser)
|
|
|
NM_005619.5(RTN2):c.959T>C (p.Leu320Pro)
|
|
|
NM_006517.5(SLC16A2):c.1084T>C (p.Cys362Arg)
|
rs1555989837
|
|
NM_006517.5(SLC16A2):c.1088T>C (p.Ile363Thr)
|
|
|
NM_006517.5(SLC16A2):c.1106T>C (p.Leu369Pro)
|
|
|
NM_006517.5(SLC16A2):c.1108G>C (p.Gly370Arg)
|
|
|
NM_006517.5(SLC16A2):c.1109G>A (p.Gly370Glu)
|
|
|
NM_006517.5(SLC16A2):c.1132A>C (p.Ser378Arg)
|
rs2147871016
|
|
NM_006517.5(SLC16A2):c.1145C>T (p.Pro382Leu)
|
rs1930480393
|
|
NM_006517.5(SLC16A2):c.120G>T (p.Glu40Asp)
|
|
|
NM_006517.5(SLC16A2):c.1231G>A (p.Gly411Arg)
|
rs147814121
|
|
NM_006517.5(SLC16A2):c.1234G>C (p.Gly412Arg)
|
|
|
NM_006517.5(SLC16A2):c.1238T>G (p.Leu413Arg)
|
rs1569300461
|
|
NM_006517.5(SLC16A2):c.1244T>A (p.Val415Asp)
|
rs1569300465
|
|
NM_006517.5(SLC16A2):c.1274G>T (p.Gly425Val)
|
rs1449997865
|
|
NM_006517.5(SLC16A2):c.127C>G (p.Pro43Ala)
|
|
|
NM_006517.5(SLC16A2):c.1293G>A (p.Met431Ile)
|
|
|
NM_006517.5(SLC16A2):c.1300A>T (p.Ile434Phe)
|
|
|
NM_006517.5(SLC16A2):c.1375A>T (p.Met459Leu)
|
|
|
NM_006517.5(SLC16A2):c.1377G>T (p.Met459Ile)
|
|
|
NM_006517.5(SLC16A2):c.1380del (p.Ile460fs)
|
rs1930533677
|
|
NM_006517.5(SLC16A2):c.1394T>C (p.Ile465Thr)
|
|
|
NM_006517.5(SLC16A2):c.1481T>G (p.Leu494Arg)
|
rs104894938
|
|
NM_006517.5(SLC16A2):c.1486T>C (p.Phe496Leu)
|
|
|
NM_006517.5(SLC16A2):c.1505A>G (p.Gln502Arg)
|
|
|
NM_006517.5(SLC16A2):c.1512G>C (p.Met504Ile)
|
rs1289700497
|
|
NM_006517.5(SLC16A2):c.151C>T (p.Pro51Ser)
|
|
|
NM_006517.5(SLC16A2):c.1550T>C (p.Met517Thr)
|
|
|
NM_006517.5(SLC16A2):c.163C>A (p.Pro55Thr)
|
|
|
NM_006517.5(SLC16A2):c.197A>G (p.Glu66Gly)
|
|
|
NM_006517.5(SLC16A2):c.224A>G (p.His75Arg)
|
rs2147833992
|
|
NM_006517.5(SLC16A2):c.24C>G (p.Ser8Arg)
|
|
|
NM_006517.5(SLC16A2):c.251A>G (p.Glu84Gly)
|
|
|
NM_006517.5(SLC16A2):c.269_270delinsAA (p.Arg90Gln)
|
|
|
NM_006517.5(SLC16A2):c.401A>G (p.Glu134Gly)
|
|
|
NM_006517.5(SLC16A2):c.430+5G>T
|
rs1569281220
|
|
NM_006517.5(SLC16A2):c.492C>A (p.Phe164Leu)
|
rs1555989369
|
|
NM_006517.5(SLC16A2):c.500G>A (p.Arg167His)
|
|
|
NM_006517.5(SLC16A2):c.506G>T (p.Gly169Val)
|
|
|
NM_006517.5(SLC16A2):c.532G>T (p.Ala178Ser)
|
|
|
NM_006517.5(SLC16A2):c.551G>A (p.Gly184Asp)
|
|
|
NM_006517.5(SLC16A2):c.558T>A (p.His186Gln)
|
rs1930399390
|
|
NM_006517.5(SLC16A2):c.59A>G (p.Gln20Arg)
|
|
|
NM_006517.5(SLC16A2):c.617G>A (p.Gly206Asp)
|
rs1930456883
|
|
NM_006517.5(SLC16A2):c.626G>A (p.Cys209Tyr)
|
|
|
NM_006517.5(SLC16A2):c.652G>A (p.Val218Ile)
|
|
|
NM_006517.5(SLC16A2):c.679C>T (p.Arg227Cys)
|
|
|
NM_006517.5(SLC16A2):c.731T>A (p.Met244Lys)
|
rs2147870573
|
|
NM_006517.5(SLC16A2):c.826C>T (p.Leu276Phe)
|
|
|
NM_006517.5(SLC16A2):c.856A>G (p.Ser286Gly)
|
|
|
NM_006517.5(SLC16A2):c.856A>T (p.Ser286Cys)
|
|
|
NM_006517.5(SLC16A2):c.890G>C (p.Arg297Pro)
|
rs780086745
|
|
NM_006517.5(SLC16A2):c.892A>G (p.Thr298Ala)
|
|
|
NM_006517.5(SLC16A2):c.904C>T (p.Arg302Cys)
|
|
|
NM_006517.5(SLC16A2):c.914C>T (p.Ala305Val)
|
rs1602142117
|
|
NM_006517.5(SLC16A2):c.925A>G (p.Lys309Glu)
|
rs2147870660
|
|
NM_006517.5(SLC16A2):c.944T>C (p.Val315Ala)
|
|
|
NM_006517.5(SLC16A2):c.955C>T (p.Arg319Cys)
|
|
|
NM_006517.5(SLC16A2):c.956G>A (p.Arg319His)
|
|
|
NM_006517.5(SLC16A2):c.96_97insCCTGAGCCGGAG (p.Glu32_Ser33insProGluProGlu)
|
|
|
NM_006517.5(SLC16A2):c.97_108del (p.Ser33_Glu36del)
|
rs753170095
|
|
NM_006517.5(SLC16A2):c.97_108dup (p.Glu36_Pro37insSerGluProGlu)
|
|
|
NM_007175.8(ERLIN2):c.1002_1007del (p.Ala335_Thr336del)
|
rs797045563
|
|
NM_007175.8(ERLIN2):c.1004C>A (p.Ala335Asp)
|
rs1563318442
|
|
NM_007175.8(ERLIN2):c.1017T>G (p.Asn339Lys)
|
|
|
NM_007175.8(ERLIN2):c.106A>G (p.Arg36Gly)
|
|
|
NM_007175.8(ERLIN2):c.136G>A (p.Gly46Ser)
|
|
|
NM_007175.8(ERLIN2):c.148C>T (p.His50Tyr)
|
rs143647454
|
|
NM_007175.8(ERLIN2):c.154A>C (p.Met52Leu)
|
|
|
NM_007175.8(ERLIN2):c.205G>C (p.Asp69His)
|
rs1802859943
|
|
NM_007175.8(ERLIN2):c.207_209del (p.Asp69del)
|
|
|
NM_007175.8(ERLIN2):c.237-3T>C
|
|
|
NM_007175.8(ERLIN2):c.246G>A (p.Val82=)
|
|
|
NM_007175.8(ERLIN2):c.246GAT[1] (p.Met83del)
|
rs1802960804
|
|
NM_007175.8(ERLIN2):c.249G>T (p.Met83Ile)
|
|
|
NM_007175.8(ERLIN2):c.250A>G (p.Ile84Val)
|
|
|
NM_007175.8(ERLIN2):c.254A>T (p.Tyr85Phe)
|
|
|
NM_007175.8(ERLIN2):c.277A>G (p.Asn93Asp)
|
rs1554516498
|
|
NM_007175.8(ERLIN2):c.334G>A (p.Asp112Asn)
|
|
|
NM_007175.8(ERLIN2):c.362A>C (p.His121Pro)
|
|
|
NM_007175.8(ERLIN2):c.385A>G (p.Ser129Gly)
|
rs1802975180
|
|
NM_007175.8(ERLIN2):c.406G>A (p.Val136Ile)
|
rs1338086200
|
|
NM_007175.8(ERLIN2):c.406G>C (p.Val136Leu)
|
|
|
NM_007175.8(ERLIN2):c.413T>C (p.Ile138Thr)
|
|
|
NM_007175.8(ERLIN2):c.452C>T (p.Ala151Val)
|
rs1554517327
|
|
NM_007175.8(ERLIN2):c.461A>C (p.Gln154Pro)
|
rs1803168761
|
|
NM_007175.8(ERLIN2):c.473C>T (p.Ser158Phe)
|
|
|
NM_007175.8(ERLIN2):c.502G>A (p.Val168Met)
|
rs1803173923
|
|
NM_007175.8(ERLIN2):c.520A>G (p.Asn174Asp)
|
rs1258969957
|
|
NM_007175.8(ERLIN2):c.577C>T (p.Leu193Phe)
|
|
|
NM_007175.8(ERLIN2):c.622G>C (p.Glu208Gln)
|
|
|
NM_007175.8(ERLIN2):c.707A>G (p.Lys236Arg)
|
|
|
NM_007175.8(ERLIN2):c.737A>C (p.Glu246Ala)
|
|
|
NM_007175.8(ERLIN2):c.758G>A (p.Arg253Gln)
|
|
|
NM_007175.8(ERLIN2):c.77T>C (p.Ile26Thr)
|
|
|
NM_007175.8(ERLIN2):c.805G>T (p.Ala269Ser)
|
|
|
NM_007175.8(ERLIN2):c.836A>C (p.Glu279Ala)
|
|
|
NM_007175.8(ERLIN2):c.879C>T (p.Ser293=)
|
|
|
NM_007175.8(ERLIN2):c.899A>G (p.Asp300Gly)
|
|
|
NM_007175.8(ERLIN2):c.918G>A (p.Met306Ile)
|
|
|
NM_007175.8(ERLIN2):c.94G>T (p.Gly32Trp)
|
rs1554515558
|
|
NM_007175.8(ERLIN2):c.992C>T (p.Pro331Leu)
|
|
|
NM_007347.5(AP4E1):c.1021A>G (p.Ile341Val)
|
rs1311207258
|
|
NM_007347.5(AP4E1):c.1039T>C (p.Ser347Pro)
|
|
|
NM_007347.5(AP4E1):c.1042C>T (p.Pro348Ser)
|
rs779139742
|
|
NM_007347.5(AP4E1):c.1072A>G (p.Lys358Glu)
|
|
|
NM_007347.5(AP4E1):c.1081A>G (p.Thr361Ala)
|
|
|
NM_007347.5(AP4E1):c.1124A>C (p.Gln375Pro)
|
|
|
NM_007347.5(AP4E1):c.1172G>A (p.Arg391Lys)
|
rs1195052914
|
|
NM_007347.5(AP4E1):c.1178C>T (p.Thr393Ile)
|
rs201339574
|
|
NM_007347.5(AP4E1):c.1218A>G (p.Ile406Met)
|
rs2140857840
|
|
NM_007347.5(AP4E1):c.121C>A (p.Arg41Ser)
|
|
|
NM_007347.5(AP4E1):c.1220C>T (p.Thr407Ile)
|
rs2064087079
|
|
NM_007347.5(AP4E1):c.1225A>G (p.Ile409Val)
|
|
|
NM_007347.5(AP4E1):c.1239G>A (p.Met413Ile)
|
|
|
NM_007347.5(AP4E1):c.1269G>T (p.Glu423Asp)
|
rs145477211
|
|
NM_007347.5(AP4E1):c.1271A>G (p.Tyr424Cys)
|
|
|
NM_007347.5(AP4E1):c.1287G>C (p.Leu429Phe)
|
rs2140858085
|
|
NM_007347.5(AP4E1):c.1301C>T (p.Ala434Val)
|
rs1567229219
|
|
NM_007347.5(AP4E1):c.1328A>G (p.Asp443Gly)
|
|
|
NM_007347.5(AP4E1):c.1368A>C (p.Ser456=)
|
|
|
NM_007347.5(AP4E1):c.136C>G (p.Leu46Val)
|
|
|
NM_007347.5(AP4E1):c.1379A>G (p.Asp460Gly)
|
|
|
NM_007347.5(AP4E1):c.1478A>T (p.Gln493Leu)
|
rs1060503026
|
|
NM_007347.5(AP4E1):c.148C>A (p.His50Asn)
|
|
|
NM_007347.5(AP4E1):c.1514T>G (p.Phe505Cys)
|
rs2064128364
|
|
NM_007347.5(AP4E1):c.1540A>C (p.Met514Leu)
|
rs2140862724
|
|
NM_007347.5(AP4E1):c.1564T>C (p.Ser522Pro)
|
|
|
NM_007347.5(AP4E1):c.1624A>T (p.Met542Leu)
|
|
|
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val)
|
rs142762839
|
|
NM_007347.5(AP4E1):c.1709C>T (p.Thr570Ile)
|
rs1235679423
|
|
NM_007347.5(AP4E1):c.1769C>T (p.Ala590Val)
|
rs2140878326
|
|
NM_007347.5(AP4E1):c.1840G>A (p.Glu614Lys)
|
rs2064269714
|
|
NM_007347.5(AP4E1):c.1851+2_1851+5dup
|
rs778162120
|
|
NM_007347.5(AP4E1):c.1853T>G (p.Val618Gly)
|
|
|
NM_007347.5(AP4E1):c.1902T>A (p.Ser634Arg)
|
rs2064423182
|
|
NM_007347.5(AP4E1):c.1912G>A (p.Ala638Thr)
|
|
|
NM_007347.5(AP4E1):c.1984T>C (p.Tyr662His)
|
rs1171557600
|
|
NM_007347.5(AP4E1):c.2040T>G (p.Ile680Met)
|
|
|
NM_007347.5(AP4E1):c.2053G>C (p.Asp685His)
|
|
|
NM_007347.5(AP4E1):c.2063G>C (p.Gly688Ala)
|
|
|
NM_007347.5(AP4E1):c.2076G>C (p.Glu692Asp)
|
rs2064682624
|
|
NM_007347.5(AP4E1):c.2108T>C (p.Leu703Pro)
|
|
|
NM_007347.5(AP4E1):c.2114G>C (p.Gly705Ala)
|
rs371288194
|
|
NM_007347.5(AP4E1):c.2167A>T (p.Thr723Ser)
|
rs1180824125
|
|
NM_007347.5(AP4E1):c.222+3A>G
|
|
|
NM_007347.5(AP4E1):c.2267_2269del (p.Gln756_Ser757delinsPro)
|
rs2140928521
|
|
NM_007347.5(AP4E1):c.2277_2285del (p.Glu760_Glu762del)
|
rs2140928535
|
|
NM_007347.5(AP4E1):c.2288A>G (p.Lys763Arg)
|
|
|
NM_007347.5(AP4E1):c.2299G>A (p.Ala767Thr)
|
rs1446336139
|
|
NM_007347.5(AP4E1):c.2336C>A (p.Thr779Lys)
|
rs2140928674
|
|
NM_007347.5(AP4E1):c.2360A>T (p.Asp787Val)
|
rs2140934224
|
|
NM_007347.5(AP4E1):c.2446T>C (p.Ser816Pro)
|
|
|
NM_007347.5(AP4E1):c.2450C>A (p.Ser817Tyr)
|
rs376025300
|
|
NM_007347.5(AP4E1):c.2470G>A (p.Val824Met)
|
|
|
NM_007347.5(AP4E1):c.2495C>T (p.Ser832Leu)
|
rs144189610
|
|
NM_007347.5(AP4E1):c.2503T>A (p.Leu835Met)
|
|
|
NM_007347.5(AP4E1):c.250C>A (p.Leu84Ile)
|
|
|
NM_007347.5(AP4E1):c.250C>T (p.Leu84Phe)
|
|
|
NM_007347.5(AP4E1):c.254T>C (p.Ile85Thr)
|
rs147005786
|
|
NM_007347.5(AP4E1):c.2561A>T (p.Asp854Val)
|
|
|
NM_007347.5(AP4E1):c.25C>G (p.Leu9Val)
|
|
|
NM_007347.5(AP4E1):c.2606A>G (p.Tyr869Cys)
|
|
|
NM_007347.5(AP4E1):c.2653A>G (p.Ile885Val)
|
|
|
NM_007347.5(AP4E1):c.2654T>A (p.Ile885Asn)
|
|
|
NM_007347.5(AP4E1):c.2686G>C (p.Val896Leu)
|
|
|
NM_007347.5(AP4E1):c.2692A>C (p.Lys898Gln)
|
rs753791503
|
|
NM_007347.5(AP4E1):c.2698A>G (p.Ser900Gly)
|
|
|
NM_007347.5(AP4E1):c.277G>C (p.Asp93His)
|
rs2141131462
|
|
NM_007347.5(AP4E1):c.2810A>G (p.Asp937Gly)
|
|
|
NM_007347.5(AP4E1):c.2846A>G (p.Lys949Arg)
|
|
|
NM_007347.5(AP4E1):c.2863A>G (p.Lys955Glu)
|
rs2140935285
|
|
NM_007347.5(AP4E1):c.2866A>C (p.Ser956Arg)
|
rs2140935290
|
|
NM_007347.5(AP4E1):c.2966A>G (p.Gln989Arg)
|
|
|
NM_007347.5(AP4E1):c.2979G>C (p.Gln993His)
|
rs764568243
|
|
NM_007347.5(AP4E1):c.29C>T (p.Thr10Met)
|
|
|
NM_007347.5(AP4E1):c.3026A>G (p.Tyr1009Cys)
|
|
|
NM_007347.5(AP4E1):c.3033G>T (p.Met1011Ile)
|
rs199619418
|
|
NM_007347.5(AP4E1):c.3043C>G (p.His1015Asp)
|
rs746806639
|
|
NM_007347.5(AP4E1):c.3091A>G (p.Ile1031Val)
|
rs2140936968
|
|
NM_007347.5(AP4E1):c.3163A>C (p.Asn1055His)
|
|
|
NM_007347.5(AP4E1):c.3194T>C (p.Leu1065Pro)
|
rs2140939426
|
|
NM_007347.5(AP4E1):c.3210G>C (p.Lys1070Asn)
|
|
|
NM_007347.5(AP4E1):c.3257A>G (p.Asn1086Ser)
|
|
|
NM_007347.5(AP4E1):c.3266T>C (p.Leu1089Pro)
|
|
|
NM_007347.5(AP4E1):c.3347G>T (p.Arg1116Ile)
|
|
|
NM_007347.5(AP4E1):c.3365T>C (p.Leu1122Pro)
|
rs2140941227
|
|
NM_007347.5(AP4E1):c.355G>T (p.Ala119Ser)
|
|
|
NM_007347.5(AP4E1):c.382C>T (p.His128Tyr)
|
rs2063738778
|
|
NM_007347.5(AP4E1):c.384T>G (p.His128Gln)
|
|
|
NM_007347.5(AP4E1):c.415G>A (p.Val139Ile)
|
|
|
NM_007347.5(AP4E1):c.429G>C (p.Gln143His)
|
|
|
NM_007347.5(AP4E1):c.442G>A (p.Val148Ile)
|
rs1368242720
|
|
NM_007347.5(AP4E1):c.466G>A (p.Val156Ile)
|
rs765951750
|
|
NM_007347.5(AP4E1):c.490G>A (p.Glu164Lys)
|
|
|
NM_007347.5(AP4E1):c.541A>C (p.Lys181Gln)
|
rs1404968090
|
|
NM_007347.5(AP4E1):c.547A>T (p.Ile183Phe)
|
|
|
NM_007347.5(AP4E1):c.575T>C (p.Leu192Ser)
|
|
|
NM_007347.5(AP4E1):c.617T>C (p.Ile206Thr)
|
rs1264635526
|
|
NM_007347.5(AP4E1):c.638C>T (p.Ala213Val)
|
rs1555455254
|
|
NM_007347.5(AP4E1):c.656T>C (p.Val219Ala)
|
rs2141154677
|
|
NM_007347.5(AP4E1):c.67G>A (p.Gly23Ser)
|
|
|
NM_007347.5(AP4E1):c.68G>T (p.Gly23Val)
|
rs2141120985
|
|
NM_007347.5(AP4E1):c.697A>T (p.Ile233Phe)
|
|
|
NM_007347.5(AP4E1):c.702+5G>A
|
|
|
NM_007347.5(AP4E1):c.703-11G>A
|
|
|
NM_007347.5(AP4E1):c.721A>G (p.Lys241Glu)
|
rs2141157729
|
|
NM_007347.5(AP4E1):c.782T>G (p.Val261Gly)
|
|
|
NM_007347.5(AP4E1):c.790A>G (p.Asn264Asp)
|
rs2141157904
|
|
NM_007347.5(AP4E1):c.86A>C (p.Lys29Thr)
|
|
|
NM_007347.5(AP4E1):c.875G>A (p.Ser292Asn)
|
rs763213142
|
|
NM_007347.5(AP4E1):c.910C>G (p.Arg304Gly)
|
rs569567659
|
|
NM_007347.5(AP4E1):c.934G>A (p.Val312Ile)
|
|
|
NM_007347.5(AP4E1):c.953T>C (p.Phe318Ser)
|
|
|
NM_007347.5(AP4E1):c.965A>G (p.His322Arg)
|
rs1487752504
|
|
NM_007347.5(AP4E1):c.976T>A (p.Ser326Thr)
|
|
|
NM_014231.5(VAMP1):c.129G>C (p.Glu43Asp)
|
|
|
NM_014231.5(VAMP1):c.130-6C>G
|
rs781012325
|
|
NM_014231.5(VAMP1):c.146G>A (p.Arg49His)
|
|
|
NM_014231.5(VAMP1):c.159C>G (p.Asp53Glu)
|
|
|
NM_014231.5(VAMP1):c.16C>G (p.Gln6Glu)
|
|
|
NM_014231.5(VAMP1):c.17A>C (p.Gln6Pro)
|
|
|
NM_014231.5(VAMP1):c.203G>A (p.Arg68Gln)
|
|
|
NM_014231.5(VAMP1):c.20C>T (p.Pro7Leu)
|
|
|
NM_014231.5(VAMP1):c.291G>C (p.Met97Ile)
|
|
|
NM_014231.5(VAMP1):c.311T>C (p.Ile104Thr)
|
|
|
NM_014231.5(VAMP1):c.324C>T (p.Ile108=)
|
|
|
NM_014231.5(VAMP1):c.338dup (p.Ile114fs)
|
|
|
NM_014231.5(VAMP1):c.341-18C>A
|
|
|
NM_014231.5(VAMP1):c.341-2A>G
|
|
|
NM_014231.5(VAMP1):c.341T>C (p.Ile114Thr)
|
rs2137003108
|
|
NM_014231.5(VAMP1):c.346T>C (p.Phe116Leu)
|
|
|
NM_014231.5(VAMP1):c.55G>C (p.Gly19Arg)
|
|
|
NM_014231.5(VAMP1):c.58G>A (p.Gly20Ser)
|
rs1950023147
|
|
NM_014231.5(VAMP1):c.71C>A (p.Pro24His)
|
|
|
NM_014231.5(VAMP1):c.74C>T (p.Pro25Leu)
|
rs2137008968
|
|
NM_014363.6(SACS):c.10076C>A (p.Thr3359Lys)
|
rs368089670
|
|
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)
|
|
|
NM_014363.6(SACS):c.10175A>G (p.Asn3392Ser)
|
rs746316505
|
|
NM_014363.6(SACS):c.10197G>A (p.Met3399Ile)
|
|
|
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg)
|
rs200991790
|
|
NM_014363.6(SACS):c.10327A>C (p.Lys3443Gln)
|
rs768317695
|
|
NM_014363.6(SACS):c.10340C>T (p.Ser3447Leu)
|
rs2137575641
|
|
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His)
|
rs1883623876
|
|
NM_014363.6(SACS):c.1058G>A (p.Gly353Glu)
|
|
|
NM_014363.6(SACS):c.10708A>T (p.Ile3570Leu)
|
rs878854977
|
|
NM_014363.6(SACS):c.10724A>T (p.His3575Leu)
|
rs370579192
|
|
NM_014363.6(SACS):c.10780A>G (p.Ile3594Val)
|
rs994425261
|
|
NM_014363.6(SACS):c.10791_10792delinsAA (p.Gln3598Lys)
|
|
|
NM_014363.6(SACS):c.10917G>T (p.Leu3639Phe)
|
|
|
NM_014363.6(SACS):c.11143A>G (p.Ser3715Gly)
|
|
|
NM_014363.6(SACS):c.11165G>A (p.Ser3722Asn)
|
|
|
NM_014363.6(SACS):c.11168A>T (p.Asp3723Val)
|
|
|
NM_014363.6(SACS):c.11227C>T (p.Pro3743Ser)
|
|
|
NM_014363.6(SACS):c.11257A>G (p.Arg3753Gly)
|
rs1883560944
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
|
|
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala)
|
rs1593122374
|
|
NM_014363.6(SACS):c.11319_11321del (p.Arg3774del)
|
rs1883553503
|
|
NM_014363.6(SACS):c.11326A>G (p.Ile3776Val)
|
rs770269690
|
|
NM_014363.6(SACS):c.11335T>A (p.Phe3779Ile)
|
|
|
NM_014363.6(SACS):c.11350A>G (p.Lys3784Glu)
|
|
|
NM_014363.6(SACS):c.11402A>G (p.Asp3801Gly)
|
|
|
NM_014363.6(SACS):c.11500A>G (p.Thr3834Ala)
|
|
|
NM_014363.6(SACS):c.11517C>G (p.Phe3839Leu)
|
|
|
NM_014363.6(SACS):c.1153A>G (p.Lys385Glu)
|
rs1281714392
|
|
NM_014363.6(SACS):c.11540T>C (p.Ile3847Thr)
|
|
|
NM_014363.6(SACS):c.11693A>G (p.Asp3898Gly)
|
|
|
NM_014363.6(SACS):c.11774A>T (p.Asp3925Val)
|
|
|
NM_014363.6(SACS):c.11963A>G (p.Lys3988Arg)
|
rs1883502413
|
|
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
|
|
|
NM_014363.6(SACS):c.12025G>A (p.Glu4009Lys)
|
rs990358595
|
|
NM_014363.6(SACS):c.12073A>G (p.Asn4025Asp)
|
rs1883495382
|
|
NM_014363.6(SACS):c.12233G>A (p.Arg4078Gln)
|
|
|
NM_014363.6(SACS):c.12242A>G (p.Asn4081Ser)
|
rs1060503432
|
|
NM_014363.6(SACS):c.12326C>A (p.Ala4109Glu)
|
rs2137559516
|
|
NM_014363.6(SACS):c.12404A>G (p.Lys4135Arg)
|
|
|
NM_014363.6(SACS):c.12434C>G (p.Ser4145Cys)
|
|
|
NM_014363.6(SACS):c.12532C>T (p.Pro4178Ser)
|
|
|
NM_014363.6(SACS):c.12682G>C (p.Asp4228His)
|
rs1447327391
|
|
NM_014363.6(SACS):c.12820A>G (p.Arg4274Gly)
|
rs1566055596
|
|
NM_014363.6(SACS):c.12866C>A (p.Ser4289Tyr)
|
|
|
NM_014363.6(SACS):c.12896A>G (p.Lys4299Arg)
|
|
|
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr)
|
rs778808568
|
|
NM_014363.6(SACS):c.12934_12935delinsAA (p.Ser4312Asn)
|
|
|
NM_014363.6(SACS):c.13079A>T (p.Asn4360Ile)
|
|
|
NM_014363.6(SACS):c.1310C>G (p.Thr437Arg)
|
rs199657817
|
|
NM_014363.6(SACS):c.13122G>C (p.Arg4374Ser)
|
rs2137551679
|
|
NM_014363.6(SACS):c.13165T>G (p.Ser4389Ala)
|
rs2137551379
|
|
NM_014363.6(SACS):c.13214C>T (p.Ala4405Val)
|
rs1300062381
|
|
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu)
|
rs775817492
|
|
NM_014363.6(SACS):c.13271C>T (p.Ala4424Val)
|
rs1883403045
|
|
NM_014363.6(SACS):c.13281_13282delinsAG (p.Tyr4428Asp)
|
|
|
NM_014363.6(SACS):c.13286C>G (p.Ser4429Cys)
|
rs765818580
|
|
NM_014363.6(SACS):c.13378_13379delinsTA (p.Ala4460Tyr)
|
rs1566054479
|
|
NM_014363.6(SACS):c.13474G>A (p.Val4492Met)
|
rs774647600
|
|
NM_014363.6(SACS):c.13526T>C (p.Ile4509Thr)
|
|
|
NM_014363.6(SACS):c.13699A>G (p.Ile4567Val)
|
|
|
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)
|
rs776682685
|
|
NM_014363.6(SACS):c.137T>G (p.Val46Gly)
|
rs1593160887
|
|
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser)
|
rs1593144937
|
|
NM_014363.6(SACS):c.1507A>G (p.Lys503Glu)
|
|
|
NM_014363.6(SACS):c.1510G>A (p.Ala504Thr)
|
|
|
NM_014363.6(SACS):c.1525A>G (p.Ile509Val)
|
rs1566080067
|
|
NM_014363.6(SACS):c.1693A>C (p.Ile565Leu)
|
rs772240153
|
|
NM_014363.6(SACS):c.1807A>G (p.Lys603Glu)
|
rs983822008
|
|
NM_014363.6(SACS):c.2062G>A (p.Val688Ile)
|
|
|
NM_014363.6(SACS):c.2066T>C (p.Ile689Thr)
|
|
|
NM_014363.6(SACS):c.2233_2235delinsTTC (p.Arg745Phe)
|
rs1869237949
|
|
NM_014363.6(SACS):c.2312G>T (p.Arg771Ile)
|
rs2137645196
|
|
NM_014363.6(SACS):c.2404C>T (p.Leu802Phe)
|
rs1869215579
|
|
NM_014363.6(SACS):c.2414G>C (p.Arg805Thr)
|
|
|
NM_014363.6(SACS):c.2437A>G (p.Thr813Ala)
|
|
|
NM_014363.6(SACS):c.2488G>C (p.Asp830His)
|
|
|
NM_014363.6(SACS):c.2573C>T (p.Ser858Phe)
|
|
|
NM_014363.6(SACS):c.2599T>C (p.Tyr867His)
|
rs774682589
|
|
NM_014363.6(SACS):c.2801C>T (p.Ser934Phe)
|
|
|
NM_014363.6(SACS):c.2996T>G (p.Ile999Ser)
|
|
|
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp)
|
rs1566071225
|
|
NM_014363.6(SACS):c.3329T>C (p.Ile1110Thr)
|
rs1869108945
|
|
NM_014363.6(SACS):c.3370C>T (p.Leu1124Phe)
|
|
|
NM_014363.6(SACS):c.3641G>A (p.Gly1214Glu)
|
|
|
NM_014363.6(SACS):c.367G>T (p.Asp123Tyr)
|
|
|
NM_014363.6(SACS):c.3689TTG[2] (p.Val1232del)
|
|
|
NM_014363.6(SACS):c.3691G>C (p.Val1231Leu)
|
|
|
NM_014363.6(SACS):c.3739C>A (p.Gln1247Lys)
|
rs1869063828
|
|
NM_014363.6(SACS):c.3774C>A (p.Phe1258Leu)
|
|
|
NM_014363.6(SACS):c.377C>G (p.Ala126Gly)
|
rs1476132092
|
|
NM_014363.6(SACS):c.3814G>A (p.Ala1272Thr)
|
|
|
NM_014363.6(SACS):c.3840T>A (p.Thr1280=)
|
rs1319754110
|
|
NM_014363.6(SACS):c.3857C>T (p.Pro1286Leu)
|
|
|
NM_014363.6(SACS):c.3886C>G (p.His1296Asp)
|
|
|
NM_014363.6(SACS):c.3971T>C (p.Ile1324Thr)
|
|
|
NM_014363.6(SACS):c.4216G>A (p.Asp1406Asn)
|
|
|
NM_014363.6(SACS):c.4457A>T (p.Asp1486Val)
|
rs2137627584
|
|
NM_014363.6(SACS):c.4505A>T (p.Asn1502Ile)
|
rs1246233364
|
|
NM_014363.6(SACS):c.4587A>G (p.Gln1529=)
|
rs1868971659
|
|
NM_014363.6(SACS):c.4651G>A (p.Asp1551Asn)
|
|
|
NM_014363.6(SACS):c.4753A>G (p.Ile1585Val)
|
rs2137624716
|
|
NM_014363.6(SACS):c.4888C>G (p.Pro1630Ala)
|
|
|
NM_014363.6(SACS):c.5012C>T (p.Ser1671Phe)
|
|
|
NM_014363.6(SACS):c.5035T>A (p.Cys1679Ser)
|
|
|
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile)
|
rs775069857
|
|
NM_014363.6(SACS):c.5141T>C (p.Ile1714Thr)
|
rs2137621295
|
|
NM_014363.6(SACS):c.5304_5306del (p.His1769del)
|
rs1555252136
|
|
NM_014363.6(SACS):c.5320A>T (p.Ile1774Phe)
|
|
|
NM_014363.6(SACS):c.5328T>A (p.Asp1776Glu)
|
|
|
NM_014363.6(SACS):c.5450C>T (p.Thr1817Met)
|
rs898102157
|
|
NM_014363.6(SACS):c.5468G>T (p.Cys1823Phe)
|
rs967386746
|
|
NM_014363.6(SACS):c.5498C>T (p.Ser1833Phe)
|
|
|
NM_014363.6(SACS):c.5585C>G (p.Thr1862Arg)
|
|
|
NM_014363.6(SACS):c.559G>T (p.Val187Phe)
|
rs1344578174
|
|
NM_014363.6(SACS):c.55G>A (p.Gly19Ser)
|
rs1871680324
|
|
NM_014363.6(SACS):c.5622A>C (p.Leu1874Phe)
|
|
|
NM_014363.6(SACS):c.5674G>A (p.Val1892Ile)
|
rs2137616839
|
|
NM_014363.6(SACS):c.5684A>G (p.Asn1895Ser)
|
|
|
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile)
|
rs758570844
|
|
NM_014363.6(SACS):c.5747T>A (p.Val1916Asp)
|
|
|
NM_014363.6(SACS):c.5768A>C (p.Gln1923Pro)
|
rs1868830508
|
|
NM_014363.6(SACS):c.5858A>T (p.His1953Leu)
|
rs1428265468
|
|
NM_014363.6(SACS):c.5920G>A (p.Glu1974Lys)
|
|
|
NM_014363.6(SACS):c.5927C>G (p.Thr1976Ser)
|
|
|
NM_014363.6(SACS):c.5935T>G (p.Phe1979Val)
|
|
|
NM_014363.6(SACS):c.5998A>G (p.Lys2000Glu)
|
|
|
NM_014363.6(SACS):c.6007G>A (p.Asp2003Asn)
|
|
|
NM_014363.6(SACS):c.600A>G (p.Ile200Met)
|
rs2137742429
|
|
NM_014363.6(SACS):c.6019G>C (p.Ala2007Pro)
|
|
|
NM_014363.6(SACS):c.605A>G (p.Asp202Gly)
|
rs777554091
|
|
NM_014363.6(SACS):c.614G>T (p.Cys205Phe)
|
rs2137729432
|
|
NM_014363.6(SACS):c.6281T>A (p.Val2094Asp)
|
|
|
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr)
|
rs757161092
|
|
NM_014363.6(SACS):c.6362C>T (p.Ala2121Val)
|
|
|
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val)
|
rs1415663565
|
|
NM_014363.6(SACS):c.6455G>A (p.Gly2152Asp)
|
|
|
NM_014363.6(SACS):c.6460G>T (p.Ala2154Ser)
|
rs146031135
|
|
NM_014363.6(SACS):c.653A>T (p.His218Leu)
|
|
|
NM_014363.6(SACS):c.6679T>A (p.Leu2227Met)
|
rs1868697576
|
|
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu)
|
rs774487714
|
|
NM_014363.6(SACS):c.6739A>G (p.Thr2247Ala)
|
rs1272133291
|
|
NM_014363.6(SACS):c.674A>G (p.His225Arg)
|
|
|
NM_014363.6(SACS):c.6751C>A (p.Gln2251Lys)
|
rs747293426
|
|
NM_014363.6(SACS):c.675T>G (p.His225Gln)
|
rs2137729069
|
|
NM_014363.6(SACS):c.6822_6833del (p.Ser2275_Val2278del)
|
|
|
NM_014363.6(SACS):c.6871G>C (p.Asp2291His)
|
rs1170939021
|
|
NM_014363.6(SACS):c.6897A>C (p.Glu2299Asp)
|
|
|
NM_014363.6(SACS):c.703G>T (p.Asp235Tyr)
|
|
|
NM_014363.6(SACS):c.7052A>G (p.Asn2351Ser)
|
|
|
NM_014363.6(SACS):c.7079C>A (p.Ser2360Tyr)
|
|
|
NM_014363.6(SACS):c.7216T>C (p.Ser2406Pro)
|
rs2137602722
|
|
NM_014363.6(SACS):c.7319A>G (p.Lys2440Arg)
|
|
|
NM_014363.6(SACS):c.745C>T (p.Pro249Ser)
|
|
|
NM_014363.6(SACS):c.7464A>G (p.Ile2488Met)
|
rs1593127405
|
|
NM_014363.6(SACS):c.7520A>G (p.Glu2507Gly)
|
|
|
NM_014363.6(SACS):c.7585A>G (p.Thr2529Ala)
|
|
|
NM_014363.6(SACS):c.7586C>A (p.Thr2529Asn)
|
rs1320224325
|
|
NM_014363.6(SACS):c.7794A>T (p.Glu2598Asp)
|
rs1490465452
|
|
NM_014363.6(SACS):c.7955C>T (p.Ala2652Val)
|
|
|
NM_014363.6(SACS):c.8161A>G (p.Arg2721Gly)
|
rs1868522362
|
|
NM_014363.6(SACS):c.8222T>C (p.Leu2741Pro)
|
|
|
NM_014363.6(SACS):c.8232G>A (p.Met2744Ile)
|
|
|
NM_014363.6(SACS):c.8238A>C (p.Lys2746Asn)
|
rs1029961212
|
|
NM_014363.6(SACS):c.8288A>G (p.Tyr2763Cys)
|
|
|
NM_014363.6(SACS):c.8300G>A (p.Gly2767Asp)
|
|
|
NM_014363.6(SACS):c.8384A>G (p.Lys2795Arg)
|
|
|
NM_014363.6(SACS):c.8388_8402del (p.Asp2796_Gln2801delinsGlu)
|
rs1593126382
|
|
NM_014363.6(SACS):c.8395G>C (p.Val2799Leu)
|
|
|
NM_014363.6(SACS):c.8575C>G (p.His2859Asp)
|
|
|
NM_014363.6(SACS):c.862_863delinsTC (p.Asn288Ser)
|
rs1555254433
|
|
NM_014363.6(SACS):c.8641T>G (p.Phe2881Val)
|
|
|
NM_014363.6(SACS):c.8702A>G (p.Asn2901Ser)
|
|
|
NM_014363.6(SACS):c.8803C>T (p.Pro2935Ser)
|
|
|
NM_014363.6(SACS):c.9103T>G (p.Leu3035Val)
|
|
|
NM_014363.6(SACS):c.9143G>A (p.Arg3048His)
|
rs553929593
|
|
NM_014363.6(SACS):c.9163G>A (p.Val3055Ile)
|
|
|
NM_014363.6(SACS):c.9259G>A (p.Asp3087Asn)
|
rs2137585503
|
|
NM_014363.6(SACS):c.9328A>G (p.Thr3110Ala)
|
rs1883705967
|
|
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup)
|
rs2137584629
|
|
NM_014363.6(SACS):c.9353C>T (p.Pro3118Leu)
|
|
|
NM_014363.6(SACS):c.9515A>G (p.Lys3172Arg)
|
|
|
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu)
|
rs780746393
|
|
NM_014363.6(SACS):c.9605A>C (p.Asn3202Thr)
|
|
|
NM_014363.6(SACS):c.9608G>A (p.Cys3203Tyr)
|
|
|
NM_014363.6(SACS):c.9671G>C (p.Arg3224Pro)
|
rs763546908
|
|
NM_014363.6(SACS):c.9808_9810del (p.Ile3270del)
|
|
|
NM_014363.6(SACS):c.9949A>G (p.Ser3317Gly)
|
rs769422067
|
|
NM_014363.6(SACS):c.9955A>G (p.Lys3319Glu)
|
rs1566060408
|
|
NM_015346.4(ZFYVE26):c.1006G>A (p.Glu336Lys)
|
|
|
NM_015346.4(ZFYVE26):c.1007A>G (p.Glu336Gly)
|
rs1018829073
|
|
NM_015346.4(ZFYVE26):c.1041AGA[2] (p.Glu349del)
|
rs758434974
|
|
NM_015346.4(ZFYVE26):c.1051T>A (p.Phe351Ile)
|
|
|
NM_015346.4(ZFYVE26):c.1064G>A (p.Gly355Asp)
|
|
|
NM_015346.4(ZFYVE26):c.1067_1068delinsTT (p.Cys356Phe)
|
|
|
NM_015346.4(ZFYVE26):c.1073T>C (p.Leu358Pro)
|
rs2040164683
|
|
NM_015346.4(ZFYVE26):c.109C>T (p.Pro37Ser)
|
rs2140260881
|
|
NM_015346.4(ZFYVE26):c.1126C>T (p.His376Tyr)
|
|
|
NM_015346.4(ZFYVE26):c.1130G>A (p.Cys377Tyr)
|
|
|
NM_015346.4(ZFYVE26):c.1174A>G (p.Arg392Gly)
|
rs1269973441
|
|
NM_015346.4(ZFYVE26):c.1183-3T>C
|
|
|
NM_015346.4(ZFYVE26):c.1196A>G (p.Asp399Gly)
|
rs1374908015
|
|
NM_015346.4(ZFYVE26):c.121_122delinsAT (p.Glu41Met)
|
|
|
NM_015346.4(ZFYVE26):c.1229G>T (p.Trp410Leu)
|
rs2140249674
|
|
NM_015346.4(ZFYVE26):c.1231G>A (p.Ala411Thr)
|
|
|
NM_015346.4(ZFYVE26):c.1236C>A (p.His412Gln)
|
rs2040153637
|
|
NM_015346.4(ZFYVE26):c.1237C>G (p.Leu413Val)
|
|
|
NM_015346.4(ZFYVE26):c.1280T>C (p.Ile427Thr)
|
|
|
NM_015346.4(ZFYVE26):c.130G>T (p.Gly44Trp)
|
|
|
NM_015346.4(ZFYVE26):c.1311C>A (p.His437Gln)
|
|
|
NM_015346.4(ZFYVE26):c.1319A>G (p.Asp440Gly)
|
rs200389391
|
|
NM_015346.4(ZFYVE26):c.1319A>T (p.Asp440Val)
|
|
|
NM_015346.4(ZFYVE26):c.1342C>T (p.Leu448Phe)
|
|
|
NM_015346.4(ZFYVE26):c.1367C>T (p.Ala456Val)
|
rs955123371
|
|
NM_015346.4(ZFYVE26):c.1423C>A (p.Gln475Lys)
|
rs2140248496
|
|
NM_015346.4(ZFYVE26):c.1451C>T (p.Pro484Leu)
|
|
|
NM_015346.4(ZFYVE26):c.148G>A (p.Val50Ile)
|
|
|
NM_015346.4(ZFYVE26):c.1522A>G (p.Ile508Val)
|
|
|
NM_015346.4(ZFYVE26):c.1580G>C (p.Ser527Thr)
|
rs2140246692
|
|
NM_015346.4(ZFYVE26):c.1582C>T (p.Leu528Phe)
|
rs2040089545
|
|
NM_015346.4(ZFYVE26):c.1593C>A (p.Asp531Glu)
|
|
|
NM_015346.4(ZFYVE26):c.1658C>T (p.Ser553Leu)
|
|
|
NM_015346.4(ZFYVE26):c.1660A>C (p.Thr554Pro)
|
rs1346995866
|
|
NM_015346.4(ZFYVE26):c.1667T>C (p.Leu556Pro)
|
rs2140243463
|
|
NM_015346.4(ZFYVE26):c.1675T>C (p.Cys559Arg)
|
|
|
NM_015346.4(ZFYVE26):c.1693A>G (p.Ser565Gly)
|
|
|
NM_015346.4(ZFYVE26):c.1714C>G (p.Leu572Val)
|
|
|
NM_015346.4(ZFYVE26):c.1720C>T (p.Leu574Phe)
|
rs1381271651
|
|
NM_015346.4(ZFYVE26):c.1778C>T (p.Pro593Leu)
|
rs2140243322
|
|
NM_015346.4(ZFYVE26):c.1823A>G (p.Lys608Arg)
|
|
|
NM_015346.4(ZFYVE26):c.1901C>G (p.Ser634Cys)
|
rs761420970
|
|
NM_015346.4(ZFYVE26):c.1901C>T (p.Ser634Phe)
|
|
|
NM_015346.4(ZFYVE26):c.1935G>A (p.Met645Ile)
|
rs2140243059
|
|
NM_015346.4(ZFYVE26):c.1968T>A (p.Ser656Arg)
|
|
|
NM_015346.4(ZFYVE26):c.2005A>G (p.Lys669Glu)
|
rs2040000209
|
|
NM_015346.4(ZFYVE26):c.2021G>T (p.Gly674Val)
|
rs1442699861
|
|
NM_015346.4(ZFYVE26):c.2027G>A (p.Ser676Asn)
|
|
|
NM_015346.4(ZFYVE26):c.2044G>A (p.Glu682Lys)
|
|
|
NM_015346.4(ZFYVE26):c.2049T>G (p.Phe683Leu)
|
|
|
NM_015346.4(ZFYVE26):c.2057G>T (p.Gly686Val)
|
|
|
NM_015346.4(ZFYVE26):c.2060C>A (p.Ala687Asp)
|
rs1168269050
|
|
NM_015346.4(ZFYVE26):c.2074C>T (p.Leu692Phe)
|
rs759435050
|
|
NM_015346.4(ZFYVE26):c.2135G>A (p.Ser712Asn)
|
|
|
NM_015346.4(ZFYVE26):c.2173C>T (p.Arg725Cys)
|
|
|
NM_015346.4(ZFYVE26):c.2179C>T (p.His727Tyr)
|
|
|
NM_015346.4(ZFYVE26):c.2215_2217delinsTGGTGGGCTTGT (p.Arg739delinsTrpTrpAlaCys)
|
|
|
NM_015346.4(ZFYVE26):c.2218C>T (p.His740Tyr)
|
|
|
NM_015346.4(ZFYVE26):c.2239C>A (p.His747Asn)
|
rs2039993133
|
|
NM_015346.4(ZFYVE26):c.2243G>A (p.Arg748His)
|
|
|
NM_015346.4(ZFYVE26):c.2245T>C (p.Ser749Pro)
|
rs2140242560
|
|
NM_015346.4(ZFYVE26):c.2247A>T (p.Ser749=)
|
|
|
NM_015346.4(ZFYVE26):c.227C>A (p.Ala76Asp)
|
rs770415843
|
|
NM_015346.4(ZFYVE26):c.2285G>A (p.Arg762His)
|
|
|
NM_015346.4(ZFYVE26):c.2302C>T (p.Arg768Trp)
|
|
|
NM_015346.4(ZFYVE26):c.2303G>A (p.Arg768Gln)
|
|
|
NM_015346.4(ZFYVE26):c.2339G>A (p.Arg780Gln)
|
|
|
NM_015346.4(ZFYVE26):c.2355C>A (p.Asn785Lys)
|
|
|
NM_015346.4(ZFYVE26):c.2375G>A (p.Ser792Asn)
|
|
|
NM_015346.4(ZFYVE26):c.2401+4T>G
|
rs2140238470
|
|
NM_015346.4(ZFYVE26):c.2414G>A (p.Ser805Asn)
|
rs751853980
|
|
NM_015346.4(ZFYVE26):c.2423C>G (p.Ser808Cys)
|
|
|
NM_015346.4(ZFYVE26):c.2452C>T (p.His818Tyr)
|
|
|
NM_015346.4(ZFYVE26):c.2470T>C (p.Ser824Pro)
|
|
|
NM_015346.4(ZFYVE26):c.251A>G (p.Glu84Gly)
|
|
|
NM_015346.4(ZFYVE26):c.2528G>A (p.Arg843His)
|
|
|
NM_015346.4(ZFYVE26):c.2530G>A (p.Gly844Arg)
|
|
|
NM_015346.4(ZFYVE26):c.2545G>A (p.Ala849Thr)
|
|
|
NM_015346.4(ZFYVE26):c.2554-3C>T
|
|
|
NM_015346.4(ZFYVE26):c.2584C>A (p.Pro862Thr)
|
|
|
NM_015346.4(ZFYVE26):c.2584C>T (p.Pro862Ser)
|
|
|
NM_015346.4(ZFYVE26):c.2668C>G (p.Gln890Glu)
|
|
|
NM_015346.4(ZFYVE26):c.266G>A (p.Arg89Gln)
|
rs138664542
|
|
NM_015346.4(ZFYVE26):c.266G>C (p.Arg89Pro)
|
rs138664542
|
|
NM_015346.4(ZFYVE26):c.2674T>C (p.Ser892Pro)
|
rs894316328
|
|
NM_015346.4(ZFYVE26):c.2699G>A (p.Arg900Gln)
|
|
|
NM_015346.4(ZFYVE26):c.2710A>T (p.Ser904Cys)
|
|
|
NM_015346.4(ZFYVE26):c.2801A>G (p.Asn934Ser)
|
|
|
NM_015346.4(ZFYVE26):c.2801A>T (p.Asn934Ile)
|
rs776133422
|
|
NM_015346.4(ZFYVE26):c.280C>T (p.Leu94Phe)
|
|
|
NM_015346.4(ZFYVE26):c.2813A>C (p.Asp938Ala)
|
|
|
NM_015346.4(ZFYVE26):c.2843G>C (p.Trp948Ser)
|
|
|
NM_015346.4(ZFYVE26):c.2875C>T (p.Pro959Ser)
|
|
|
NM_015346.4(ZFYVE26):c.2905C>T (p.Pro969Ser)
|
rs1315958519
|
|
NM_015346.4(ZFYVE26):c.2909C>G (p.Pro970Arg)
|
rs769364228
|
|
NM_015346.4(ZFYVE26):c.2909C>T (p.Pro970Leu)
|
|
|
NM_015346.4(ZFYVE26):c.2990G>A (p.Arg997Gln)
|
|
|
NM_015346.4(ZFYVE26):c.3017G>A (p.Arg1006Gln)
|
|
|
NM_015346.4(ZFYVE26):c.3023G>A (p.Arg1008Gln)
|
|
|
NM_015346.4(ZFYVE26):c.3025C>G (p.Arg1009Gly)
|
|
|
NM_015346.4(ZFYVE26):c.3025C>T (p.Arg1009Trp)
|
rs374605354
|
|
NM_015346.4(ZFYVE26):c.3035A>G (p.His1012Arg)
|
|
|
NM_015346.4(ZFYVE26):c.3044T>C (p.Leu1015Pro)
|
rs864622152
|
|
NM_015346.4(ZFYVE26):c.3049G>A (p.Ala1017Thr)
|
|
|
NM_015346.4(ZFYVE26):c.3055G>A (p.Gly1019Ser)
|
|
|
NM_015346.4(ZFYVE26):c.3073GTT[1] (p.Val1026del)
|
|
|
NM_015346.4(ZFYVE26):c.3077T>C (p.Val1026Ala)
|
rs748310249
|
|
NM_015346.4(ZFYVE26):c.3125G>A (p.Ser1042Asn)
|
|
|
NM_015346.4(ZFYVE26):c.3160G>A (p.Gly1054Arg)
|
rs1555397587
|
|
NM_015346.4(ZFYVE26):c.3173G>A (p.Arg1058Gln)
|
|
|
NM_015346.4(ZFYVE26):c.3191T>C (p.Leu1064Pro)
|
rs1594917272
|
|
NM_015346.4(ZFYVE26):c.3239A>T (p.His1080Leu)
|
|
|
NM_015346.4(ZFYVE26):c.3266A>G (p.Gln1089Arg)
|
rs1555397555
|
|
NM_015346.4(ZFYVE26):c.3269T>C (p.Val1090Ala)
|
rs2140227607
|
|
NM_015346.4(ZFYVE26):c.3271C>T (p.Leu1091Phe)
|
|
|
NM_015346.4(ZFYVE26):c.3275A>G (p.Gln1092Arg)
|
|
|
NM_015346.4(ZFYVE26):c.3281T>G (p.Leu1094Arg)
|
rs1555397549
|
|
NM_015346.4(ZFYVE26):c.3308C>A (p.Pro1103His)
|
rs3742885
|
|
NM_015346.4(ZFYVE26):c.3368A>G (p.Glu1123Gly)
|
|
|
NM_015346.4(ZFYVE26):c.3374A>C (p.His1125Pro)
|
rs2140226565
|
|
NM_015346.4(ZFYVE26):c.3376C>A (p.Pro1126Thr)
|
rs202103136
|
|
NM_015346.4(ZFYVE26):c.343A>G (p.Ile115Val)
|
|
|
NM_015346.4(ZFYVE26):c.3470G>A (p.Ser1157Asn)
|
rs1060500989
|
|
NM_015346.4(ZFYVE26):c.3478A>G (p.Ser1160Gly)
|
rs2039613065
|
|
NM_015346.4(ZFYVE26):c.3482C>T (p.Thr1161Ile)
|
|
|
NM_015346.4(ZFYVE26):c.3484C>T (p.Leu1162Phe)
|
|
|
NM_015346.4(ZFYVE26):c.3523+5del
|
rs2039611492
|
|
NM_015346.4(ZFYVE26):c.3540G>C (p.Lys1180Asn)
|
|
|
NM_015346.4(ZFYVE26):c.3681C>G (p.Ile1227Met)
|
|
|
NM_015346.4(ZFYVE26):c.3682G>A (p.Val1228Ile)
|
|
|
NM_015346.4(ZFYVE26):c.368T>C (p.Leu123Pro)
|
rs2040220014
|
|
NM_015346.4(ZFYVE26):c.3736A>G (p.Thr1246Ala)
|
|
|
NM_015346.4(ZFYVE26):c.3827C>T (p.Pro1276Leu)
|
|
|
NM_015346.4(ZFYVE26):c.3892C>T (p.Pro1298Ser)
|
|
|
NM_015346.4(ZFYVE26):c.3905C>T (p.Ser1302Phe)
|
|
|
NM_015346.4(ZFYVE26):c.3917C>T (p.Ala1306Val)
|
|
|
NM_015346.4(ZFYVE26):c.3946G>C (p.Ala1316Pro)
|
rs2140223389
|
|
NM_015346.4(ZFYVE26):c.3974C>T (p.Pro1325Leu)
|
|
|
NM_015346.4(ZFYVE26):c.3985G>T (p.Val1329Phe)
|
rs758842694
|
|
NM_015346.4(ZFYVE26):c.401A>C (p.His134Pro)
|
|
|
NM_015346.4(ZFYVE26):c.4024C>G (p.Arg1342Gly)
|
rs368778263
|
|
NM_015346.4(ZFYVE26):c.4024C>T (p.Arg1342Cys)
|
|
|
NM_015346.4(ZFYVE26):c.4025G>T (p.Arg1342Leu)
|
|
|
NM_015346.4(ZFYVE26):c.4028G>A (p.Arg1343Lys)
|
|
|
NM_015346.4(ZFYVE26):c.4048G>A (p.Glu1350Lys)
|
|
|
NM_015346.4(ZFYVE26):c.4061G>A (p.Arg1354Gln)
|
|
|
NM_015346.4(ZFYVE26):c.4070A>G (p.Glu1357Gly)
|
|
|
NM_015346.4(ZFYVE26):c.4108C>T (p.Leu1370Phe)
|
|
|
NM_015346.4(ZFYVE26):c.4114G>T (p.Ala1372Ser)
|
|
|
NM_015346.4(ZFYVE26):c.412G>A (p.Gly138Arg)
|
|
|
NM_015346.4(ZFYVE26):c.4160T>C (p.Leu1387Pro)
|
rs1336592776
|
|
NM_015346.4(ZFYVE26):c.4171C>G (p.Leu1391Val)
|
rs1347292571
|
|
NM_015346.4(ZFYVE26):c.4184C>T (p.Ala1395Val)
|
|
|
NM_015346.4(ZFYVE26):c.4198G>A (p.Val1400Ile)
|
|
|
NM_015346.4(ZFYVE26):c.4201C>T (p.Leu1401Phe)
|
|
|
NM_015346.4(ZFYVE26):c.423G>C (p.Arg141Ser)
|
|
|
NM_015346.4(ZFYVE26):c.4277G>T (p.Trp1426Leu)
|
|
|
NM_015346.4(ZFYVE26):c.4280C>T (p.Ser1427Phe)
|
|
|
NM_015346.4(ZFYVE26):c.4282C>T (p.Arg1428Trp)
|
|
|
NM_015346.4(ZFYVE26):c.4283G>T (p.Arg1428Leu)
|
rs371511765
|
|
NM_015346.4(ZFYVE26):c.4288C>T (p.Leu1430Phe)
|
|
|
NM_015346.4(ZFYVE26):c.4302A>T (p.Glu1434Asp)
|
|
|
NM_015346.4(ZFYVE26):c.4309G>A (p.Gly1437Arg)
|
|
|
NM_015346.4(ZFYVE26):c.4316A>G (p.Asp1439Gly)
|
|
|
NM_015346.4(ZFYVE26):c.4323C>A (p.Asp1441Glu)
|
rs751803624
|
|
NM_015346.4(ZFYVE26):c.4345G>A (p.Ala1449Thr)
|
rs1475111598
|
|
NM_015346.4(ZFYVE26):c.4348G>T (p.Val1450Phe)
|
|
|
NM_015346.4(ZFYVE26):c.4355G>T (p.Ser1452Ile)
|
|
|
NM_015346.4(ZFYVE26):c.4360G>T (p.Ala1454Ser)
|
|
|
NM_015346.4(ZFYVE26):c.4369T>A (p.Cys1457Ser)
|
rs2039534702
|
|
NM_015346.4(ZFYVE26):c.4370G>C (p.Cys1457Ser)
|
|
|
NM_015346.4(ZFYVE26):c.4373A>G (p.Asp1458Gly)
|
|
|
NM_015346.4(ZFYVE26):c.443G>A (p.Arg148His)
|
rs144919978
|
|
NM_015346.4(ZFYVE26):c.443G>T (p.Arg148Leu)
|
rs144919978
|
|
NM_015346.4(ZFYVE26):c.4492A>C (p.Ile1498Leu)
|
rs1284822199
|
|
NM_015346.4(ZFYVE26):c.4502C>A (p.Thr1501Lys)
|
rs201034965
|
|
NM_015346.4(ZFYVE26):c.4502C>T (p.Thr1501Met)
|
rs201034965
|
|
NM_015346.4(ZFYVE26):c.4561T>C (p.Tyr1521His)
|
|
|
NM_015346.4(ZFYVE26):c.4588C>T (p.Pro1530Ser)
|
|
|
NM_015346.4(ZFYVE26):c.4621A>G (p.Ser1541Gly)
|
|
|
NM_015346.4(ZFYVE26):c.4651A>T (p.Met1551Leu)
|
|
|
NM_015346.4(ZFYVE26):c.4657A>G (p.Met1553Val)
|
|
|
NM_015346.4(ZFYVE26):c.4674+6G>A
|
|
|
NM_015346.4(ZFYVE26):c.4675-3C>T
|
|
|
NM_015346.4(ZFYVE26):c.475G>C (p.Asp159His)
|
|
|
NM_015346.4(ZFYVE26):c.4777G>C (p.Asp1593His)
|
rs1286765050
|
|
NM_015346.4(ZFYVE26):c.4781A>G (p.His1594Arg)
|
|
|
NM_015346.4(ZFYVE26):c.4789G>A (p.Ala1597Thr)
|
|
|
NM_015346.4(ZFYVE26):c.4805G>A (p.Arg1602Gln)
|
|
|
NM_015346.4(ZFYVE26):c.4826T>C (p.Met1609Thr)
|
|
|
NM_015346.4(ZFYVE26):c.4898A>G (p.Tyr1633Cys)
|
|
|
NM_015346.4(ZFYVE26):c.4940A>G (p.His1647Arg)
|
rs2039378790
|
|
NM_015346.4(ZFYVE26):c.4967G>C (p.Gly1656Ala)
|
rs1402088177
|
|
NM_015346.4(ZFYVE26):c.4990C>T (p.Pro1664Ser)
|
rs752759035
|
|
NM_015346.4(ZFYVE26):c.5043G>A (p.Met1681Ile)
|
|
|
NM_015346.4(ZFYVE26):c.5092G>A (p.Val1698Met)
|
|
|
NM_015346.4(ZFYVE26):c.5116G>A (p.Val1706Ile)
|
|
|
NM_015346.4(ZFYVE26):c.5168G>A (p.Arg1723Lys)
|
|
|
NM_015346.4(ZFYVE26):c.5209G>C (p.Glu1737Gln)
|
|
|
NM_015346.4(ZFYVE26):c.5224T>A (p.Ser1742Thr)
|
rs2140211203
|
|
NM_015346.4(ZFYVE26):c.5230A>T (p.Ile1744Phe)
|
|
|
NM_015346.4(ZFYVE26):c.5315C>A (p.Pro1772His)
|
|
|
NM_015346.4(ZFYVE26):c.5317C>T (p.Pro1773Ser)
|
|
|
NM_015346.4(ZFYVE26):c.5369C>T (p.Pro1790Leu)
|
rs878855012
|
|
NM_015346.4(ZFYVE26):c.5387A>C (p.Glu1796Ala)
|
|
|
NM_015346.4(ZFYVE26):c.5431C>T (p.Pro1811Ser)
|
rs1012956419
|
|
NM_015346.4(ZFYVE26):c.5453G>C (p.Cys1818Ser)
|
rs2140207338
|
|
NM_015346.4(ZFYVE26):c.5457G>A (p.Met1819Ile)
|
rs1470344743
|
|
NM_015346.4(ZFYVE26):c.5485-8T>G
|
rs2140204102
|
|
NM_015346.4(ZFYVE26):c.5495G>A (p.Arg1832His)
|
|
|
NM_015346.4(ZFYVE26):c.5497C>A (p.His1833Asn)
|
|
|
NM_015346.4(ZFYVE26):c.5510G>T (p.Arg1837Leu)
|
|
|
NM_015346.4(ZFYVE26):c.5584C>T (p.Arg1862Cys)
|
|
|
NM_015346.4(ZFYVE26):c.5585G>A (p.Arg1862His)
|
rs140471625
|
|
NM_015346.4(ZFYVE26):c.5587G>A (p.Val1863Met)
|
rs2140203929
|
|
NM_015346.4(ZFYVE26):c.5597A>C (p.Gln1866Pro)
|
|
|
NM_015346.4(ZFYVE26):c.5599T>C (p.Cys1867Arg)
|
|
|
NM_015346.4(ZFYVE26):c.5611T>C (p.Cys1871Arg)
|
rs747790566
|
|
NM_015346.4(ZFYVE26):c.5632G>A (p.Glu1878Lys)
|
rs2039119637
|
|
NM_015346.4(ZFYVE26):c.5654-3C>T
|
rs878855014
|
|
NM_015346.4(ZFYVE26):c.5677A>G (p.Ser1893Gly)
|
|
|
NM_015346.4(ZFYVE26):c.5690C>T (p.Ser1897Leu)
|
|
|
NM_015346.4(ZFYVE26):c.5711A>G (p.Lys1904Arg)
|
rs2039097466
|
|
NM_015346.4(ZFYVE26):c.5722G>A (p.Val1908Met)
|
|
|
NM_015346.4(ZFYVE26):c.5722G>T (p.Val1908Leu)
|
|
|
NM_015346.4(ZFYVE26):c.5723T>C (p.Val1908Ala)
|
|
|
NM_015346.4(ZFYVE26):c.5735T>G (p.Leu1912Trp)
|
|
|
NM_015346.4(ZFYVE26):c.5737G>T (p.Asp1913Tyr)
|
|
|
NM_015346.4(ZFYVE26):c.5750A>G (p.Glu1917Gly)
|
rs1594896697
|
|
NM_015346.4(ZFYVE26):c.5839A>G (p.Ser1947Gly)
|
|
|
NM_015346.4(ZFYVE26):c.5856C>A (p.His1952Gln)
|
rs772532225
|
|
NM_015346.4(ZFYVE26):c.5861T>A (p.Leu1954Gln)
|
|
|
NM_015346.4(ZFYVE26):c.5871C>G (p.His1957Gln)
|
rs757790246
|
|
NM_015346.4(ZFYVE26):c.5875T>G (p.Cys1959Gly)
|
|
|
NM_015346.4(ZFYVE26):c.5880G>T (p.Arg1960Ser)
|
rs751183425
|
|
NM_015346.4(ZFYVE26):c.5881C>A (p.Leu1961Ile)
|
rs2140199467
|
|
NM_015346.4(ZFYVE26):c.5901C>A (p.Asn1967Lys)
|
|
|
NM_015346.4(ZFYVE26):c.5932A>G (p.Ile1978Val)
|
|
|
NM_015346.4(ZFYVE26):c.593G>A (p.Arg198Gln)
|
|
|
NM_015346.4(ZFYVE26):c.5943G>C (p.Gln1981His)
|
rs1351855851
|
|
NM_015346.4(ZFYVE26):c.5952C>G (p.Phe1984Leu)
|
|
|
NM_015346.4(ZFYVE26):c.5971G>A (p.Val1991Ile)
|
|
|
NM_015346.4(ZFYVE26):c.5980G>A (p.Gly1994Ser)
|
|
|
NM_015346.4(ZFYVE26):c.6011+5A>C
|
|
|
NM_015346.4(ZFYVE26):c.6014A>G (p.Tyr2005Cys)
|
rs1164231240
|
|
NM_015346.4(ZFYVE26):c.6061C>T (p.Arg2021Cys)
|
|
|
NM_015346.4(ZFYVE26):c.6064C>T (p.His2022Tyr)
|
|
|
NM_015346.4(ZFYVE26):c.6067G>C (p.Val2023Leu)
|
|
|
NM_015346.4(ZFYVE26):c.6080A>G (p.Asp2027Gly)
|
|
|
NM_015346.4(ZFYVE26):c.6110G>C (p.Arg2037Thr)
|
|
|
NM_015346.4(ZFYVE26):c.6155T>C (p.Val2052Ala)
|
|
|
NM_015346.4(ZFYVE26):c.6159+3G>A
|
|
|
NM_015346.4(ZFYVE26):c.6187A>G (p.Thr2063Ala)
|
|
|
NM_015346.4(ZFYVE26):c.6191G>C (p.Gly2064Ala)
|
rs747918986
|
|
NM_015346.4(ZFYVE26):c.6193G>T (p.Ala2065Ser)
|
|
|
NM_015346.4(ZFYVE26):c.6220C>T (p.Leu2074Phe)
|
|
|
NM_015346.4(ZFYVE26):c.6248G>A (p.Arg2083Gln)
|
|
|
NM_015346.4(ZFYVE26):c.6262C>T (p.Arg2088Cys)
|
|
|
NM_015346.4(ZFYVE26):c.626C>T (p.Ser209Leu)
|
|
|
NM_015346.4(ZFYVE26):c.6277C>G (p.Pro2093Ala)
|
|
|
NM_015346.4(ZFYVE26):c.6278C>G (p.Pro2093Arg)
|
rs2140194086
|
|
NM_015346.4(ZFYVE26):c.6290A>G (p.Asn2097Ser)
|
|
|
NM_015346.4(ZFYVE26):c.6312G>C (p.Arg2104Ser)
|
|
|
NM_015346.4(ZFYVE26):c.6312G>T (p.Arg2104Ser)
|
rs758451085
|
|
NM_015346.4(ZFYVE26):c.6379G>A (p.Asp2127Asn)
|
|
|
NM_015346.4(ZFYVE26):c.6418C>T (p.Arg2140Trp)
|
|
|
NM_015346.4(ZFYVE26):c.6422C>T (p.Thr2141Met)
|
|
|
NM_015346.4(ZFYVE26):c.6479A>T (p.Tyr2160Phe)
|
|
|
NM_015346.4(ZFYVE26):c.647A>C (p.Asp216Ala)
|
|
|
NM_015346.4(ZFYVE26):c.6495C>G (p.Phe2165Leu)
|
|
|
NM_015346.4(ZFYVE26):c.6509A>C (p.Tyr2170Ser)
|
rs763583609
|
|
NM_015346.4(ZFYVE26):c.6509A>G (p.Tyr2170Cys)
|
|
|
NM_015346.4(ZFYVE26):c.6521T>C (p.Leu2174Pro)
|
|
|
NM_015346.4(ZFYVE26):c.6541G>A (p.Val2181Met)
|
|
|
NM_015346.4(ZFYVE26):c.6559C>T (p.Arg2187Trp)
|
rs1163205635
|
|
NM_015346.4(ZFYVE26):c.662C>G (p.Ala221Gly)
|
|
|
NM_015346.4(ZFYVE26):c.6655A>C (p.Thr2219Pro)
|
|
|
NM_015346.4(ZFYVE26):c.6676T>A (p.Ser2226Thr)
|
|
|
NM_015346.4(ZFYVE26):c.667C>A (p.Arg223=)
|
|
|
NM_015346.4(ZFYVE26):c.667C>T (p.Arg223Trp)
|
|
|
NM_015346.4(ZFYVE26):c.668G>A (p.Arg223Gln)
|
|
|
NM_015346.4(ZFYVE26):c.6728A>G (p.Gln2243Arg)
|
|
|
NM_015346.4(ZFYVE26):c.6738GAA[2] (p.Lys2248del)
|
rs764479245
|
|
NM_015346.4(ZFYVE26):c.6781A>T (p.Met2261Leu)
|
rs746645190
|
|
NM_015346.4(ZFYVE26):c.6816T>G (p.Ile2272Met)
|
|
|
NM_015346.4(ZFYVE26):c.6866T>C (p.Leu2289Pro)
|
rs1566863511
|
|
NM_015346.4(ZFYVE26):c.6875T>C (p.Leu2292Pro)
|
|
|
NM_015346.4(ZFYVE26):c.6894C>G (p.His2298Gln)
|
|
|
NM_015346.4(ZFYVE26):c.6905A>G (p.Tyr2302Cys)
|
rs199939197
|
|
NM_015346.4(ZFYVE26):c.6919T>C (p.Ser2307Pro)
|
rs1566863424
|
|
NM_015346.4(ZFYVE26):c.6922C>T (p.Arg2308Cys)
|
|
|
NM_015346.4(ZFYVE26):c.6923G>A (p.Arg2308His)
|
|
|
NM_015346.4(ZFYVE26):c.6940A>C (p.Lys2314Gln)
|
rs2140184349
|
|
NM_015346.4(ZFYVE26):c.6946A>G (p.Thr2316Ala)
|
|
|
NM_015346.4(ZFYVE26):c.695T>G (p.Leu232Arg)
|
|
|
NM_015346.4(ZFYVE26):c.6985A>T (p.Arg2329Trp)
|
rs2140184295
|
|
NM_015346.4(ZFYVE26):c.6986+4G>C
|
|
|
NM_015346.4(ZFYVE26):c.6986G>A (p.Arg2329Lys)
|
rs2140184291
|
|
NM_015346.4(ZFYVE26):c.7021A>G (p.Thr2341Ala)
|
|
|
NM_015346.4(ZFYVE26):c.7147A>C (p.Asn2383His)
|
rs2038707498
|
|
NM_015346.4(ZFYVE26):c.7178G>A (p.Arg2393His)
|
|
|
NM_015346.4(ZFYVE26):c.7188+3A>G
|
|
|
NM_015346.4(ZFYVE26):c.7189-3T>C
|
|
|
NM_015346.4(ZFYVE26):c.7194C>G (p.Phe2398Leu)
|
|
|
NM_015346.4(ZFYVE26):c.7219T>C (p.Cys2407Arg)
|
|
|
NM_015346.4(ZFYVE26):c.7250A>G (p.Glu2417Gly)
|
|
|
NM_015346.4(ZFYVE26):c.7258A>C (p.Ser2420Arg)
|
|
|
NM_015346.4(ZFYVE26):c.7348G>A (p.Ala2450Thr)
|
|
|
NM_015346.4(ZFYVE26):c.7349C>T (p.Ala2450Val)
|
rs2038671321
|
|
NM_015346.4(ZFYVE26):c.7371+6C>G
|
rs894907950
|
|
NM_015346.4(ZFYVE26):c.7420C>T (p.Arg2474Trp)
|
|
|
NM_015346.4(ZFYVE26):c.7447C>T (p.Arg2483Cys)
|
|
|
NM_015346.4(ZFYVE26):c.7477G>T (p.Glu2493Ter)
|
|
|
NM_015346.4(ZFYVE26):c.7534G>A (p.Gly2512Arg)
|
|
|
NM_015346.4(ZFYVE26):c.7555A>G (p.Ile2519Val)
|
|
|
NM_015346.4(ZFYVE26):c.7559G>C (p.Cys2520Ser)
|
rs1555392769
|
|
NM_015346.4(ZFYVE26):c.7565A>G (p.Gln2522Arg)
|
|
|
NM_015346.4(ZFYVE26):c.7570C>T (p.Leu2524Phe)
|
|
|
NM_015346.4(ZFYVE26):c.7586C>T (p.Pro2529Leu)
|
|
|
NM_015346.4(ZFYVE26):c.7588dup (p.Arg2530fs)
|
rs2140176050
|
|
NM_015346.4(ZFYVE26):c.7606G>A (p.Gly2536Ser)
|
|
|
NM_015346.4(ZFYVE26):c.850A>G (p.Thr284Ala)
|
|
|
NM_015346.4(ZFYVE26):c.903A>G (p.Leu301=)
|
|
|
NM_015346.4(ZFYVE26):c.907C>A (p.Pro303Thr)
|
|
|
NM_015346.4(ZFYVE26):c.946C>G (p.Pro316Ala)
|
|
|
NM_015346.4(ZFYVE26):c.95C>T (p.Ala32Val)
|
|
|
NM_015346.4(ZFYVE26):c.964G>C (p.Val322Leu)
|
|
|
NM_020435.3(GJC2):c.-170A>G
|
rs587777496
|
|
NM_020435.4(GJC2):c.1013G>A (p.Arg338Gln)
|
rs1011652150
|
|
NM_020435.4(GJC2):c.1013G>T (p.Arg338Leu)
|
|
|
NM_020435.4(GJC2):c.1037A>T (p.His346Leu)
|
|
|
NM_020435.4(GJC2):c.1056C>G (p.Asn352Lys)
|
|
|
NM_020435.4(GJC2):c.1088C>A (p.Ala363Glu)
|
rs1469042630
|
|
NM_020435.4(GJC2):c.1093G>A (p.Gly365Arg)
|
rs1434548378
|
|
NM_020435.4(GJC2):c.109G>A (p.Val37Met)
|
rs886783252
|
|
NM_020435.4(GJC2):c.1105C>T (p.Arg369Trp)
|
|
|
NM_020435.4(GJC2):c.1133C>T (p.Pro378Leu)
|
|
|
NM_020435.4(GJC2):c.1145G>A (p.Arg382Gln)
|
rs2034731056
|
|
NM_020435.4(GJC2):c.1195T>C (p.Ser399Pro)
|
|
|
NM_020435.4(GJC2):c.11T>G (p.Met4Arg)
|
rs2124965914
|
|
NM_020435.4(GJC2):c.1229G>A (p.Gly410Asp)
|
|
|
NM_020435.4(GJC2):c.1240C>G (p.Arg414Gly)
|
rs769684659
|
|
NM_020435.4(GJC2):c.1249G>C (p.Ala417Pro)
|
|
|
NM_020435.4(GJC2):c.1289G>A (p.Ser430Asn)
|
|
|
NM_020435.4(GJC2):c.133G>C (p.Ala45Pro)
|
|
|
NM_020435.4(GJC2):c.139T>C (p.Tyr47His)
|
|
|
NM_020435.4(GJC2):c.195C>A (p.Asn65Lys)
|
|
|
NM_020435.4(GJC2):c.226C>A (p.His76Asn)
|
|
|
NM_020435.4(GJC2):c.231_233del (p.Arg78del)
|
|
|
NM_020435.4(GJC2):c.251T>C (p.Ile84Thr)
|
|
|
NM_020435.4(GJC2):c.292G>A (p.Ala98Thr)
|
|
|
NM_020435.4(GJC2):c.29C>T (p.Thr10Met)
|
|
|
NM_020435.4(GJC2):c.32G>A (p.Arg11Gln)
|
|
|
NM_020435.4(GJC2):c.338C>T (p.Ala113Val)
|
|
|
NM_020435.4(GJC2):c.343C>T (p.Arg115Cys)
|
rs2124966245
|
|
NM_020435.4(GJC2):c.364C>G (p.Arg122Gly)
|
rs1171061411
|
|
NM_020435.4(GJC2):c.368C>A (p.Ala123Glu)
|
|
|
NM_020435.4(GJC2):c.386C>G (p.Pro129Arg)
|
|
|
NM_020435.4(GJC2):c.400G>A (p.Gly134Ser)
|
|
|
NM_020435.4(GJC2):c.407C>G (p.Pro136Arg)
|
|
|
NM_020435.4(GJC2):c.409G>C (p.Glu137Gln)
|
rs2124966310
|
|
NM_020435.4(GJC2):c.412C>A (p.Pro138Thr)
|
|
|
NM_020435.4(GJC2):c.426C>T (p.Gly142=)
|
rs2124966330
|
|
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del)
|
rs779077705
|
|
NM_020435.4(GJC2):c.452G>T (p.Gly151Val)
|
|
|
NM_020435.4(GJC2):c.454GAG[5] (p.Glu157_Glu158del)
|
rs746050475
|
|
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del)
|
rs746050475
|
|
NM_020435.4(GJC2):c.454GAG[8] (p.Glu158dup)
|
rs746050475
|
|
NM_020435.4(GJC2):c.466_467delinsAT (p.Glu156Met)
|
rs1571907790
|
|
NM_020435.4(GJC2):c.476C>T (p.Thr159Met)
|
rs756868228
|
|
NM_020435.4(GJC2):c.484G>A (p.Ala162Thr)
|
|
|
NM_020435.4(GJC2):c.496G>A (p.Gly166Ser)
|
|
|
NM_020435.4(GJC2):c.498C>T (p.Gly166=)
|
rs2124966406
|
|
NM_020435.4(GJC2):c.506C>T (p.Ala169Val)
|
|
|
NM_020435.4(GJC2):c.516_530dup (p.Gly173_Ala177dup)
|
rs1159773438
|
|
NM_020435.4(GJC2):c.530C>T (p.Ala177Val)
|
|
|
NM_020435.4(GJC2):c.539A>G (p.Lys180Arg)
|
rs2124966466
|
|
NM_020435.4(GJC2):c.545_565dup (p.Val182_Ala188dup)
|
rs1553262516
|
|
NM_020435.4(GJC2):c.556G>A (p.Gly186Ser)
|
|
|
NM_020435.4(GJC2):c.577G>T (p.Gly193Cys)
|
|
|
NM_020435.4(GJC2):c.584C>T (p.Thr195Ile)
|
|
|
NM_020435.4(GJC2):c.601C>T (p.Arg201Trp)
|
|
|
NM_020435.4(GJC2):c.608G>A (p.Arg203His)
|
|
|
NM_020435.4(GJC2):c.637T>A (p.Tyr213Asn)
|
|
|
NM_020435.4(GJC2):c.641T>C (p.Val214Ala)
|
|
|
NM_020435.4(GJC2):c.644C>T (p.Ala215Val)
|
|
|
NM_020435.4(GJC2):c.649_651del (p.Leu217del)
|
|
|
NM_020435.4(GJC2):c.653T>C (p.Val218Ala)
|
rs1571908001
|
|
NM_020435.4(GJC2):c.658A>G (p.Arg220Gly)
|
rs2124966578
|
|
NM_020435.4(GJC2):c.661G>C (p.Ala221Pro)
|
rs767296387
|
|
NM_020435.4(GJC2):c.661G>T (p.Ala221Ser)
|
rs767296387
|
|
NM_020435.4(GJC2):c.704A>G (p.Tyr235Cys)
|
|
|
NM_020435.4(GJC2):c.716T>C (p.Val239Ala)
|
|
|
NM_020435.4(GJC2):c.721C>T (p.Pro241Ser)
|
|
|
NM_020435.4(GJC2):c.740G>A (p.Arg247His)
|
rs1057523988
|
|
NM_020435.4(GJC2):c.740G>C (p.Arg247Pro)
|
rs1057523988
|
|
NM_020435.4(GJC2):c.751C>G (p.Pro251Ala)
|
|
|
NM_020435.4(GJC2):c.752C>T (p.Pro251Leu)
|
rs2034720620
|
|
NM_020435.4(GJC2):c.765C>G (p.Asp255Glu)
|
|
|
NM_020435.4(GJC2):c.766T>C (p.Cys256Arg)
|
|
|
NM_020435.4(GJC2):c.782C>G (p.Pro261Arg)
|
|
|
NM_020435.4(GJC2):c.784A>C (p.Thr262Pro)
|
|
|
NM_020435.4(GJC2):c.817G>C (p.Val273Leu)
|
rs374172867
|
|
NM_020435.4(GJC2):c.830T>C (p.Leu277Pro)
|
|
|
NM_020435.4(GJC2):c.845A>G (p.Asn282Ser)
|
rs1553262560
|
|
NM_020435.4(GJC2):c.898G>A (p.Gly300Ser)
|
|
|
NM_020435.4(GJC2):c.902G>C (p.Arg301Pro)
|
|
|
NM_020435.4(GJC2):c.902_910dup (p.Gly303_Pro304insArgArgGly)
|
|
|
NM_020435.4(GJC2):c.914dup (p.Ala306fs)
|
|
|
NM_020435.4(GJC2):c.915G>A (p.Pro305=)
|
rs2034723914
|
|
NM_020435.4(GJC2):c.923C>T (p.Ala308Val)
|
|
|
NM_020435.4(GJC2):c.924CCCCGC[3] (p.Pro313_Arg314insAlaPro)
|
|
|
NM_020435.4(GJC2):c.947C>A (p.Pro316Gln)
|
|
|
NM_020435.4(GJC2):c.968C>T (p.Ala323Val)
|
|
|
NM_020435.4(GJC2):c.997T>G (p.Tyr333Asp)
|
rs2124966916
|
|
NM_020944.3(GBA2):c.1026G>A (p.Thr342=)
|
|
|
NM_020944.3(GBA2):c.1108G>A (p.Gly370Arg)
|
rs1826595849
|
|
NM_020944.3(GBA2):c.1130-14T>A
|
|
|
NM_020944.3(GBA2):c.1202G>A (p.Arg401Gln)
|
|
|
NM_020944.3(GBA2):c.1213C>T (p.Arg405Cys)
|
|
|
NM_020944.3(GBA2):c.1317T>G (p.Asp439Glu)
|
|
|
NM_020944.3(GBA2):c.1345C>A (p.Leu449Met)
|
|
|
NM_020944.3(GBA2):c.1394C>T (p.Pro465Leu)
|
|
|
NM_020944.3(GBA2):c.1420G>C (p.Ala474Pro)
|
|
|
NM_020944.3(GBA2):c.1553G>A (p.Arg518Gln)
|
|
|
NM_020944.3(GBA2):c.1703G>A (p.Arg568Lys)
|
rs1451500934
|
|
NM_020944.3(GBA2):c.1768G>A (p.Val590Ile)
|
|
|
NM_020944.3(GBA2):c.1789G>T (p.Asp597Tyr)
|
|
|
NM_020944.3(GBA2):c.17C>A (p.Pro6Gln)
|
rs1025071865
|
|
NM_020944.3(GBA2):c.1882G>C (p.Val628Leu)
|
rs371925764
|
|
NM_020944.3(GBA2):c.1939G>A (p.Val647Met)
|
rs1563957812
|
|
NM_020944.3(GBA2):c.1947+4A>T
|
rs781668874
|
|
NM_020944.3(GBA2):c.19G>A (p.Gly7Arg)
|
|
|
NM_020944.3(GBA2):c.2055-3C>A
|
|
|
NM_020944.3(GBA2):c.2099T>C (p.Val700Ala)
|
rs989227836
|
|
NM_020944.3(GBA2):c.2135A>G (p.Gln712Arg)
|
|
|
NM_020944.3(GBA2):c.2159G>T (p.Ser720Ile)
|
|
|
NM_020944.3(GBA2):c.2240G>A (p.Arg747His)
|
|
|
NM_020944.3(GBA2):c.2540G>A (p.Gly847Asp)
|
rs138519801
|
|
NM_020944.3(GBA2):c.260G>T (p.Arg87Leu)
|
rs776095931
|
|
NM_020944.3(GBA2):c.2675A>T (p.Gln892Leu)
|
|
|
NM_020944.3(GBA2):c.2683C>G (p.His895Asp)
|
rs1588001323
|
|
NM_020944.3(GBA2):c.2735G>A (p.Gly912Glu)
|
|
|
NM_020944.3(GBA2):c.2777C>T (p.Pro926Leu)
|
|
|
NM_020944.3(GBA2):c.323T>C (p.Leu108Pro)
|
|
|
NM_020944.3(GBA2):c.331A>G (p.Met111Val)
|
|
|
NM_020944.3(GBA2):c.331A>T (p.Met111Leu)
|
|
|
NM_020944.3(GBA2):c.406C>A (p.Pro136Thr)
|
rs767302670
|
|
NM_020944.3(GBA2):c.496T>C (p.Trp166Arg)
|
|
|
NM_020944.3(GBA2):c.514C>T (p.Arg172Cys)
|
rs749351473
|
|
NM_020944.3(GBA2):c.559G>A (p.Ala187Thr)
|
|
|
NM_020944.3(GBA2):c.617T>C (p.Leu206Pro)
|
rs1160145071
|
|
NM_020944.3(GBA2):c.629G>A (p.Arg210His)
|
|
|
NM_020944.3(GBA2):c.648C>A (p.Ser216Arg)
|
rs781642238
|
|
NM_020944.3(GBA2):c.823G>A (p.Val275Met)
|
rs762754270
|
|
NM_020944.3(GBA2):c.841G>A (p.Glu281Lys)
|
|
|
NM_020944.3(GBA2):c.867C>G (p.Phe289Leu)
|
rs147741018
|
|
NM_020944.3(GBA2):c.873G>A (p.Met291Ile)
|
|
|
NM_020944.3(GBA2):c.958C>T (p.Arg320Trp)
|
|
|
NM_024306.5(FA2H):c.1028A>G (p.His343Arg)
|
rs995971156
|
|
NM_024306.5(FA2H):c.1036T>G (p.Ser346Ala)
|
rs2144601409
|
|
NM_024306.5(FA2H):c.1084C>T (p.Leu362Phe)
|
rs2144598918
|
|
NM_024306.5(FA2H):c.1101_1102del (p.His368fs)
|
rs1961640625
|
|
NM_024306.5(FA2H):c.113G>A (p.Ser38Asn)
|
rs2144672586
|
|
NM_024306.5(FA2H):c.126C>A (p.His42Gln)
|
|
|
NM_024306.5(FA2H):c.139G>A (p.Glu47Lys)
|
rs1057518032
|
|
NM_024306.5(FA2H):c.173T>C (p.Ile58Thr)
|
rs990027087
|
|
NM_024306.5(FA2H):c.176G>C (p.Ser59Thr)
|
rs2144672449
|
|
NM_024306.5(FA2H):c.17C>T (p.Pro6Leu)
|
rs1018191043
|
|
NM_024306.5(FA2H):c.190G>C (p.Gly64Arg)
|
rs1410690526
|
|
NM_024306.5(FA2H):c.205C>T (p.His69Tyr)
|
rs1057519235
|
|
NM_024306.5(FA2H):c.244G>C (p.Val82Leu)
|
|
|
NM_024306.5(FA2H):c.268C>G (p.Gln90Glu)
|
rs2144672216
|
|
NM_024306.5(FA2H):c.317C>G (p.Thr106Arg)
|
|
|
NM_024306.5(FA2H):c.319G>A (p.Asp107Asn)
|
rs1962260707
|
|
NM_024306.5(FA2H):c.325G>T (p.Ala109Ser)
|
|
|
NM_024306.5(FA2H):c.347T>A (p.Val116Glu)
|
|
|
NM_024306.5(FA2H):c.363+3A>G
|
|
|
NM_024306.5(FA2H):c.363+5C>A
|
|
|
NM_024306.5(FA2H):c.364-3C>T
|
rs1961983397
|
|
NM_024306.5(FA2H):c.38C>T (p.Pro13Leu)
|
|
|
NM_024306.5(FA2H):c.401T>G (p.Val134Gly)
|
rs199659429
|
|
NM_024306.5(FA2H):c.426_428del (p.Asp142del)
|
rs1961980881
|
|
NM_024306.5(FA2H):c.448A>G (p.Thr150Ala)
|
|
|
NM_024306.5(FA2H):c.461G>A (p.Arg154His)
|
rs1204169977
|
|
NM_024306.5(FA2H):c.461G>T (p.Arg154Leu)
|
rs1204169977
|
|
NM_024306.5(FA2H):c.50A>G (p.Gln17Arg)
|
rs1597577820
|
|
NM_024306.5(FA2H):c.589C>G (p.Arg197Gly)
|
rs1463651673
|
|
NM_024306.5(FA2H):c.632C>T (p.Pro211Leu)
|
rs1344911374
|
|
NM_024306.5(FA2H):c.646C>G (p.Pro216Ala)
|
rs1961775069
|
|
NM_024306.5(FA2H):c.662T>G (p.Leu221Arg)
|
|
|
NM_024306.5(FA2H):c.682C>T (p.Leu228Phe)
|
|
|
NM_024306.5(FA2H):c.685_687del (p.Ile229del)
|
rs1567633884
|
|
NM_024306.5(FA2H):c.709C>G (p.Leu237Val)
|
|
|
NM_024306.5(FA2H):c.75_77del (p.Cys25del)
|
rs878855082
|
|
NM_024306.5(FA2H):c.776A>G (p.Gln259Arg)
|
|
|
NM_024306.5(FA2H):c.77G>C (p.Trp26Ser)
|
|
|
NM_024306.5(FA2H):c.790C>T (p.Pro264Ser)
|
|
|
NM_024306.5(FA2H):c.791C>T (p.Pro264Leu)
|
|
|
NM_024306.5(FA2H):c.810G>A (p.Leu270=)
|
rs1961706796
|
|
NM_024306.5(FA2H):c.820C>A (p.Pro274Thr)
|
|
|
NM_024306.5(FA2H):c.820C>G (p.Pro274Ala)
|
|
|
NM_024306.5(FA2H):c.82C>T (p.Arg28Cys)
|
rs775172785
|
|
NM_024306.5(FA2H):c.83G>A (p.Arg28His)
|
rs1962976476
|
|
NM_024306.5(FA2H):c.867G>C (p.Gln289His)
|
|
|
NM_024306.5(FA2H):c.893G>A (p.Gly298Asp)
|
rs573835278
|
|
NM_024306.5(FA2H):c.939G>T (p.Met313Ile)
|
|
|
NM_024306.5(FA2H):c.941_945del (p.Thr314fs)
|
rs1961700181
|
|
NM_024306.5(FA2H):c.970C>T (p.His324Tyr)
|
|
|
NM_024306.5(FA2H):c.977G>T (p.Gly326Val)
|
|
|
NM_183075.3(CYP2U1):c.1004G>A (p.Ser335Asn)
|
rs142944337
|
|
NM_183075.3(CYP2U1):c.107C>A (p.Ala36Glu)
|
rs1351893573
|
|
NM_183075.3(CYP2U1):c.1148A>G (p.Glu383Gly)
|
|
|
NM_183075.3(CYP2U1):c.1150A>G (p.Arg384Gly)
|
|
|
NM_183075.3(CYP2U1):c.1156A>G (p.Ile386Val)
|
|
|
NM_183075.3(CYP2U1):c.1169G>A (p.Arg390Gln)
|
|
|
NM_183075.3(CYP2U1):c.1174C>A (p.Pro392Thr)
|
|
|
NM_183075.3(CYP2U1):c.1184C>T (p.Thr395Ile)
|
|
|
NM_183075.3(CYP2U1):c.11C>T (p.Pro4Leu)
|
|
|
NM_183075.3(CYP2U1):c.1207A>C (p.Thr403Pro)
|
|
|
NM_183075.3(CYP2U1):c.1224G>A (p.Met408Ile)
|
rs1290682250
|
|
NM_183075.3(CYP2U1):c.1258G>A (p.Ala420Thr)
|
rs778851531
|
|
NM_183075.3(CYP2U1):c.1264C>G (p.Pro422Ala)
|
rs1733742814
|
|
NM_183075.3(CYP2U1):c.1270A>G (p.Met424Val)
|
|
|
NM_183075.3(CYP2U1):c.127G>C (p.Val43Leu)
|
rs1031064765
|
|
NM_183075.3(CYP2U1):c.128T>C (p.Val43Ala)
|
|
|
NM_183075.3(CYP2U1):c.1301A>G (p.Tyr434Cys)
|
|
|
NM_183075.3(CYP2U1):c.143G>T (p.Trp48Leu)
|
|
|
NM_183075.3(CYP2U1):c.1450G>A (p.Gly484Arg)
|
|
|
NM_183075.3(CYP2U1):c.1466T>C (p.Val489Ala)
|
|
|
NM_183075.3(CYP2U1):c.1473G>A (p.Met491Ile)
|
|
|
NM_183075.3(CYP2U1):c.1493T>C (p.Met498Thr)
|
|
|
NM_183075.3(CYP2U1):c.1517del (p.Ser506fs)
|
|
|
NM_183075.3(CYP2U1):c.1524G>T (p.Met508Ile)
|
|
|
NM_183075.3(CYP2U1):c.1527G>C (p.Gln509His)
|
rs2126203368
|
|
NM_183075.3(CYP2U1):c.154C>T (p.Arg52Trp)
|
rs1732990193
|
|
NM_183075.3(CYP2U1):c.155G>C (p.Arg52Pro)
|
|
|
NM_183075.3(CYP2U1):c.1567C>T (p.Leu523Phe)
|
|
|
NM_183075.3(CYP2U1):c.1585G>T (p.Gly529Cys)
|
rs1578736266
|
|
NM_183075.3(CYP2U1):c.1616T>A (p.Ile539Lys)
|
|
|
NM_183075.3(CYP2U1):c.213C>G (p.Asn71Lys)
|
rs2126188271
|
|
NM_183075.3(CYP2U1):c.235C>T (p.Pro79Ser)
|
|
|
NM_183075.3(CYP2U1):c.244C>T (p.Arg82Trp)
|
rs1476927058
|
|
NM_183075.3(CYP2U1):c.281C>T (p.Ala94Val)
|
|
|
NM_183075.3(CYP2U1):c.305G>T (p.Gly102Val)
|
rs2126188410
|
|
NM_183075.3(CYP2U1):c.313G>A (p.Val105Met)
|
|
|
NM_183075.3(CYP2U1):c.31_42dup (p.Ala11_Pro14dup)
|
rs1026306428
|
|
NM_183075.3(CYP2U1):c.340T>A (p.Tyr114Asn)
|
rs1733005836
|
|
NM_183075.3(CYP2U1):c.367_375del (p.Gly123_Tyr125del)
|
rs2126188525
|
|
NM_183075.3(CYP2U1):c.392_393delinsTT (p.Ser131Ile)
|
|
|
NM_183075.3(CYP2U1):c.412G>A (p.Glu138Lys)
|
|
|
NM_183075.3(CYP2U1):c.461C>T (p.Pro154Leu)
|
|
|
NM_183075.3(CYP2U1):c.464T>C (p.Leu155Pro)
|
|
|
NM_183075.3(CYP2U1):c.488A>G (p.Lys163Arg)
|
|
|
NM_183075.3(CYP2U1):c.489G>A (p.Lys163=)
|
|
|
NM_183075.3(CYP2U1):c.503C>T (p.Ala168Val)
|
|
|
NM_183075.3(CYP2U1):c.544C>G (p.His182Asp)
|
|
|
NM_183075.3(CYP2U1):c.551C>A (p.Thr184Asn)
|
|
|
NM_183075.3(CYP2U1):c.640G>A (p.Gly214Arg)
|
rs539068584
|
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NM_183075.3(CYP2U1):c.64C>T (p.Arg22Cys)
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NM_183075.3(CYP2U1):c.682G>A (p.Val228Ile)
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NM_183075.3(CYP2U1):c.701C>T (p.Ser234Phe)
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rs1370303971
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NM_183075.3(CYP2U1):c.718C>T (p.Arg240Cys)
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NM_183075.3(CYP2U1):c.734A>G (p.Asn245Ser)
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NM_183075.3(CYP2U1):c.74T>C (p.Leu25Pro)
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NM_183075.3(CYP2U1):c.767C>T (p.Ser256Leu)
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rs377203075
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NM_183075.3(CYP2U1):c.770G>A (p.Arg257Gln)
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NM_183075.3(CYP2U1):c.784T>G (p.Cys262Gly)
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NM_183075.3(CYP2U1):c.869T>A (p.Ile290Asn)
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rs761095930
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NM_183075.3(CYP2U1):c.890T>C (p.Phe297Ser)
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rs1578728816
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NM_183075.3(CYP2U1):c.899A>C (p.Lys300Thr)
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NM_183075.3(CYP2U1):c.904A>T (p.Ile302Phe)
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NM_183075.3(CYP2U1):c.923C>G (p.Ser308Cys)
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NM_183075.3(CYP2U1):c.940C>T (p.Pro314Ser)
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NM_183075.3(CYP2U1):c.950T>A (p.Phe317Tyr)
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rs1733663700
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NM_183075.3(CYP2U1):c.953T>C (p.Ile318Thr)
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NM_183075.3(CYP2U1):c.956A>T (p.Asp319Val)
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NM_183075.3(CYP2U1):c.958A>G (p.Met320Val)
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NM_183075.3(CYP2U1):c.95C>T (p.Pro32Leu)
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rs2126188056
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NM_183075.3(CYP2U1):c.976G>A (p.Glu326Lys)
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NM_183075.3(CYP2U1):c.98G>T (p.Ser33Ile)
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Single allele
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