NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)
|
rs76440173
|
0.00267
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_004733.4(SLC33A1):c.169G>C (p.Gly57Arg)
|
rs150651158
|
0.00213
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_020944.3(GBA2):c.326G>A (p.Ser109Asn)
|
rs140988229
|
0.00197
|
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr)
|
rs144015992
|
0.00190
|
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)
|
rs147317123
|
0.00168
|
NM_183075.3(CYP2U1):c.60C>T (p.Leu20=)
|
rs535692203
|
0.00168
|
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys)
|
rs144755294
|
0.00156
|
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His)
|
rs147919567
|
0.00147
|
NM_183075.3(CYP2U1):c.1132G>A (p.Val378Ile)
|
rs61740284
|
0.00140
|
NM_020944.3(GBA2):c.815T>C (p.Val272Ala)
|
rs142602400
|
0.00133
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr)
|
rs139163400
|
0.00130
|
NM_020944.3(GBA2):c.1420G>A (p.Ala474Thr)
|
rs147443644
|
0.00124
|
NM_183075.3(CYP2U1):c.308C>T (p.Pro103Leu)
|
rs147506864
|
0.00122
|
NM_024306.5(FA2H):c.570C>A (p.Thr190=)
|
rs138892784
|
0.00120
|
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala)
|
rs150672943
|
0.00117
|
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg)
|
rs375318012
|
0.00116
|
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile)
|
rs140942230
|
0.00109
|
NM_015346.4(ZFYVE26):c.1945G>A (p.Val649Met)
|
rs144790966
|
0.00107
|
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)
|
rs147506904
|
0.00099
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00097
|
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)
|
rs147135554
|
0.00095
|
NM_015346.4(ZFYVE26):c.3212G>A (p.Ser1071Asn)
|
rs7156206
|
0.00092
|
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)
|
rs145213666
|
0.00091
|
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00087
|
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)
|
rs192610957
|
0.00084
|
NM_014363.6(SACS):c.10972C>T (p.Arg3658Trp)
|
rs115155117
|
0.00078
|
NM_014363.6(SACS):c.1374A>G (p.Thr458=)
|
rs149129638
|
0.00076
|
NM_015346.4(ZFYVE26):c.74G>C (p.Arg25Pro)
|
rs148104959
|
0.00076
|
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)
|
rs140281678
|
0.00074
|
NM_014231.5(VAMP1):c.2+17G>A
|
rs367734911
|
0.00073
|
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)
|
rs149638449
|
0.00071
|
NM_015346.4(ZFYVE26):c.216T>C (p.Pro72=)
|
rs143702416
|
0.00070
|
NM_020944.3(GBA2):c.1546A>G (p.Thr516Ala)
|
rs199920123
|
0.00069
|
NM_001478.5(B4GALNT1):c.371C>A (p.Ala124Asp)
|
rs143174548
|
0.00067
|
NM_014363.6(SACS):c.2234G>A (p.Arg745His)
|
rs143677534
|
0.00067
|
NM_001478.5(B4GALNT1):c.383+20G>A
|
rs201682022
|
0.00066
|
NM_015346.4(ZFYVE26):c.6019A>G (p.Ser2007Gly)
|
rs150497301
|
0.00066
|
NM_015346.4(ZFYVE26):c.3051T>C (p.Ala1017=)
|
rs138895639
|
0.00064
|
NM_020435.4(GJC2):c.556G>T (p.Gly186Cys)
|
rs201277546
|
0.00061
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00060
|
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
|
rs147013767
|
0.00060
|
NM_020435.4(GJC2):c.1090G>A (p.Ala364Thr)
|
rs534573391
|
0.00058
|
NM_024306.5(FA2H):c.444G>T (p.Pro148=)
|
rs138087787
|
0.00057
|
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)
|
rs142869943
|
0.00056
|
NM_007347.5(AP4E1):c.1316+15C>T
|
rs367575074
|
0.00054
|
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)
|
rs139387396
|
0.00054
|
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)
|
rs141276237
|
0.00053
|
NM_004187.5(KDM5C):c.4597A>C (p.Thr1533Pro)
|
rs145666414
|
0.00052
|
NM_004984.4(KIF5A):c.1656C>T (p.Asn552=)
|
rs776685173
|
0.00051
|
NM_020944.3(GBA2):c.568-19G>C
|
rs370430367
|
0.00051
|
NM_001478.5(B4GALNT1):c.1212C>T (p.Pro404=)
|
rs374497472
|
0.00050
|
NM_005619.5(RTN2):c.1312C>T (p.Arg438Cys)
|
rs148270789
|
0.00049
|
NM_001278116.2(L1CAM):c.964C>T (p.Arg322Trp)
|
rs144692079
|
0.00048
|
NM_006517.5(SLC16A2):c.538G>A (p.Val180Ile)
|
rs759933264
|
0.00048
|
NM_014363.6(SACS):c.260-9G>A
|
rs376676263
|
0.00048
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
NM_020944.3(GBA2):c.1688-8T>C
|
rs754147042
|
0.00047
|
NM_015346.4(ZFYVE26):c.2799C>T (p.Leu933=)
|
rs146793500
|
0.00044
|
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)
|
rs143433500
|
0.00043
|
NM_015346.4(ZFYVE26):c.30T>G (p.Ala10=)
|
rs141905183
|
0.00043
|
NM_015346.4(ZFYVE26):c.5654-10C>G
|
rs183559101
|
0.00043
|
NM_007347.5(AP4E1):c.258T>C (p.Tyr86=)
|
rs143624283
|
0.00042
|
NM_015346.4(ZFYVE26):c.7056C>T (p.Thr2352=)
|
rs141586165
|
0.00042
|
NM_020944.3(GBA2):c.2201G>A (p.Arg734His)
|
rs142621039
|
0.00042
|
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)
|
rs142284018
|
0.00040
|
NM_007347.5(AP4E1):c.2268A>G (p.Gln756=)
|
rs139497190
|
0.00039
|
NM_007347.5(AP4E1):c.735G>A (p.Gly245=)
|
rs146147470
|
0.00039
|
NM_001012301.4(ARSI):c.852C>T (p.Tyr284=)
|
rs139203947
|
0.00038
|
NM_001128126.3(AP4S1):c.306+4191A>G
|
rs200969079
|
0.00038
|
NM_001478.5(B4GALNT1):c.1144-7C>T
|
rs370107238
|
0.00038
|
NM_020944.3(GBA2):c.217G>A (p.Glu73Lys)
|
rs141800351
|
0.00038
|
NM_024306.5(FA2H):c.66C>G (p.Ala22=)
|
rs941508343
|
0.00038
|
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe)
|
rs138413501
|
0.00036
|
NM_007347.5(AP4E1):c.1566C>G (p.Ser522=)
|
rs78870657
|
0.00035
|
NM_014363.6(SACS):c.3828A>G (p.Pro1276=)
|
rs369988818
|
0.00035
|
NM_015346.4(ZFYVE26):c.624T>C (p.Asp208=)
|
rs140128583
|
0.00034
|
NM_020944.3(GBA2):c.359+15T>A
|
rs183068847
|
0.00034
|
NM_001012301.4(ARSI):c.231G>T (p.Leu77=)
|
rs143586885
|
0.00033
|
NM_001012301.4(ARSI):c.737G>A (p.Arg246His)
|
rs143734494
|
0.00033
|
NM_183075.3(CYP2U1):c.396C>T (p.Asp132=)
|
rs368014569
|
0.00033
|
NM_001012301.4(ARSI):c.1135G>A (p.Glu379Lys)
|
rs200384227
|
0.00032
|
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
|
rs190617851
|
0.00032
|
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)
|
rs140678034
|
0.00032
|
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)
|
rs200735789
|
0.00032
|
NM_001012301.4(ARSI):c.828C>T (p.Asn276=)
|
rs201541308
|
0.00031
|
NM_001128126.3(AP4S1):c.228C>T (p.Asn76=)
|
rs144109125
|
0.00031
|
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)
|
rs148971954
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_014363.6(SACS):c.439G>C (p.Asp147His)
|
rs202226274
|
0.00031
|
NM_183075.3(CYP2U1):c.372C>T (p.His124=)
|
rs375489915
|
0.00031
|
NM_014363.6(SACS):c.11385T>G (p.Ala3795=)
|
rs148605896
|
0.00030
|
NM_014363.6(SACS):c.3042A>G (p.Leu1014=)
|
rs141982796
|
0.00030
|
NM_015346.4(ZFYVE26):c.5433G>A (p.Pro1811=)
|
rs145094388
|
0.00030
|
NM_007347.5(AP4E1):c.3351C>T (p.Ser1117=)
|
rs371690344
|
0.00029
|
NM_014363.6(SACS):c.2929C>T (p.Leu977=)
|
rs146296924
|
0.00029
|
NM_014363.6(SACS):c.7049A>G (p.Glu2350Gly)
|
rs141091294
|
0.00029
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
NM_004984.4(KIF5A):c.1236G>A (p.Glu412=)
|
rs143591739
|
0.00028
|
NM_015346.4(ZFYVE26):c.5979C>T (p.Ala1993=)
|
rs139484310
|
0.00027
|
NM_024306.5(FA2H):c.540G>T (p.Val180=)
|
rs150423523
|
0.00027
|
NM_001385875.1(ZFYVE27):c.541G>A (p.Val181Met)
|
rs150951341
|
0.00026
|
NM_002156.5(HSPD1):c.1681A>G (p.Met561Val)
|
rs371969794
|
0.00026
|
NM_004733.4(SLC33A1):c.177C>T (p.Gly59=)
|
rs139129650
|
0.00026
|
NM_014363.6(SACS):c.12438G>A (p.Ser4146=)
|
rs150959878
|
0.00026
|
NM_014363.6(SACS):c.1273C>A (p.Pro425Thr)
|
rs142024534
|
0.00026
|
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr)
|
rs140028127
|
0.00026
|
NM_015346.4(ZFYVE26):c.1272-15A>G
|
rs200345163
|
0.00026
|
NM_001478.5(B4GALNT1):c.996C>T (p.Phe332=)
|
rs376140415
|
0.00025
|
NM_005619.5(RTN2):c.1607C>T (p.Ala536Val)
|
rs140567426
|
0.00025
|
NM_015346.4(ZFYVE26):c.2554-16_2554-14del
|
rs745843519
|
0.00025
|
NM_015346.4(ZFYVE26):c.2554-17T>G
|
rs765059320
|
0.00025
|
NM_002156.5(HSPD1):c.732T>G (p.Val244=)
|
rs142108846
|
0.00024
|
NM_007347.5(AP4E1):c.1624A>G (p.Met542Val)
|
rs542940704
|
0.00024
|
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)
|
rs61978562
|
0.00024
|
NM_014363.6(SACS):c.8577C>T (p.His2859=)
|
rs140016265
|
0.00024
|
NM_020944.3(GBA2):c.1688-13G>C
|
rs779358452
|
0.00024
|
NM_002156.5(HSPD1):c.1712G>T (p.Gly571Val)
|
rs374322039
|
0.00023
|
NM_002156.5(HSPD1):c.871C>G (p.Leu291Val)
|
rs139649754
|
0.00023
|
NM_007347.5(AP4E1):c.3217C>A (p.Gln1073Lys)
|
rs117612527
|
0.00023
|
NM_014363.6(SACS):c.1884C>T (p.Pro628=)
|
rs144468379
|
0.00023
|
NM_020944.3(GBA2):c.786+9C>A
|
rs374309697
|
0.00023
|
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=)
|
rs371522442
|
0.00022
|
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala)
|
rs372022664
|
0.00022
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
NM_183075.3(CYP2U1):c.1126+11G>C
|
rs370834419
|
0.00022
|
NM_004187.5(KDM5C):c.2595C>T (p.Cys865=)
|
rs371450943
|
0.00021
|
NM_007347.5(AP4E1):c.420+8A>G
|
rs779014673
|
0.00021
|
NM_014231.5(VAMP1):c.114G>A (p.Gln38=)
|
rs145088983
|
0.00021
|
NM_015346.4(ZFYVE26):c.4428G>T (p.Arg1476=)
|
rs144721227
|
0.00021
|
NM_020435.4(GJC2):c.633C>T (p.Arg211=)
|
rs981105825
|
0.00021
|
NM_024306.5(FA2H):c.198G>C (p.Pro66=)
|
rs570454174
|
0.00021
|
NM_024306.5(FA2H):c.271-8C>A
|
rs199610820
|
0.00021
|
NM_183075.3(CYP2U1):c.639C>T (p.His213=)
|
rs147256952
|
0.00021
|
NM_001012301.4(ARSI):c.680G>A (p.Arg227His)
|
rs144405126
|
0.00020
|
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=)
|
rs571177831
|
0.00020
|
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)
|
rs148544893
|
0.00020
|
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
|
rs139579036
|
0.00020
|
NM_014363.6(SACS):c.9778G>C (p.Asp3260His)
|
rs148545339
|
0.00020
|
NM_020435.4(GJC2):c.993C>G (p.Pro331=)
|
rs891962078
|
0.00020
|
NM_020944.3(GBA2):c.964C>T (p.Leu322=)
|
rs150861266
|
0.00020
|
NM_183075.3(CYP2U1):c.1162G>A (p.Ala388Thr)
|
rs138968113
|
0.00020
|
NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=)
|
rs147057295
|
0.00019
|
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
|
rs201558584
|
0.00019
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00019
|
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)
|
rs186301471
|
0.00019
|
NM_014363.6(SACS):c.9333T>C (p.Asn3111=)
|
rs150532740
|
0.00019
|
NM_014363.6(SACS):c.99T>C (p.Asp33=)
|
rs775206528
|
0.00019
|
NM_004187.5(KDM5C):c.2091C>T (p.Phe697=)
|
rs782198070
|
0.00018
|
NM_015346.4(ZFYVE26):c.1903C>T (p.Leu635=)
|
rs536238458
|
0.00018
|
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met)
|
rs149309725
|
0.00017
|
NM_004984.4(KIF5A):c.820-10C>T
|
rs374848194
|
0.00017
|
NM_007347.5(AP4E1):c.1485T>C (p.Tyr495=)
|
rs141477361
|
0.00017
|
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)
|
rs145680118
|
0.00017
|
NM_014363.6(SACS):c.3282C>T (p.Asn1094=)
|
rs145499245
|
0.00017
|
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp)
|
rs149018756
|
0.00017
|
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)
|
rs138379074
|
0.00017
|
NM_015346.4(ZFYVE26):c.1369C>G (p.Leu457Val)
|
rs201917832
|
0.00017
|
NM_024306.5(FA2H):c.925G>A (p.Val309Ile)
|
rs150427439
|
0.00017
|
NM_001478.5(B4GALNT1):c.153G>A (p.Leu51=)
|
rs377186391
|
0.00016
|
NM_004984.4(KIF5A):c.129+9C>T
|
rs372131378
|
0.00016
|
NM_004984.4(KIF5A):c.2024-7C>T
|
rs375960933
|
0.00016
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
0.00016
|
NM_014363.6(SACS):c.12765G>A (p.Arg4255=)
|
rs139692779
|
0.00016
|
NM_014363.6(SACS):c.1444C>G (p.Leu482Val)
|
rs141487769
|
0.00016
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
NM_014363.6(SACS):c.6576C>T (p.Ile2192=)
|
rs145327845
|
0.00016
|
NM_015346.4(ZFYVE26):c.5485-15G>A
|
rs149524358
|
0.00016
|
NM_020944.3(GBA2):c.2478C>T (p.Tyr826=)
|
rs374440648
|
0.00016
|
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)
|
rs141854925
|
0.00016
|
NM_024306.5(FA2H):c.613+14C>G
|
rs377183717
|
0.00016
|
NM_024306.5(FA2H):c.614-7C>G
|
rs377171975
|
0.00016
|
NM_001478.5(B4GALNT1):c.600A>G (p.Gly200=)
|
rs200042738
|
0.00015
|
NM_007347.5(AP4E1):c.1497G>T (p.Leu499=)
|
rs369231225
|
0.00015
|
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile)
|
rs200991790
|
0.00015
|
NM_014363.6(SACS):c.1311G>A (p.Thr437=)
|
rs140671039
|
0.00015
|
NM_014363.6(SACS):c.3345C>T (p.Val1115=)
|
rs143287019
|
0.00015
|
NM_001278116.2(L1CAM):c.1722G>A (p.Gly574=)
|
rs2857756
|
0.00014
|
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=)
|
rs201204893
|
0.00014
|
NM_001385875.1(ZFYVE27):c.424C>T (p.Arg142Cys)
|
rs145746084
|
0.00014
|
NM_001478.5(B4GALNT1):c.1503C>T (p.Tyr501=)
|
rs373413298
|
0.00014
|
NM_004820.5(CYP7B1):c.851-16A>G
|
rs375053083
|
0.00014
|
NM_004984.4(KIF5A):c.1389C>T (p.Asn463=)
|
rs112982686
|
0.00014
|
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)
|
rs139801016
|
0.00014
|
NM_007347.5(AP4E1):c.2541T>C (p.Ser847=)
|
rs148654358
|
0.00014
|
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser)
|
rs138609508
|
0.00014
|
NM_015346.4(ZFYVE26):c.2396C>T (p.Thr799Met)
|
rs200179480
|
0.00014
|
NM_015346.4(ZFYVE26):c.6918A>T (p.Thr2306=)
|
rs146227863
|
0.00014
|
NM_015346.4(ZFYVE26):c.792G>A (p.Leu264=)
|
rs149572207
|
0.00014
|
NM_020944.3(GBA2):c.1848T>C (p.Asp616=)
|
rs766509602
|
0.00014
|
NM_024306.5(FA2H):c.202A>G (p.Arg68Gly)
|
rs750198250
|
0.00014
|
NM_024306.5(FA2H):c.969G>A (p.Pro323=)
|
rs144071567
|
0.00014
|
NM_001012301.4(ARSI):c.495C>T (p.Asp165=)
|
rs767783947
|
0.00013
|
NM_001278116.2(L1CAM):c.999G>T (p.Pro333=)
|
rs200201490
|
0.00013
|
NM_001478.5(B4GALNT1):c.1431C>T (p.Ser477=)
|
rs375772910
|
0.00013
|
NM_004984.4(KIF5A):c.261G>A (p.Gln87=)
|
rs369673537
|
0.00013
|
NM_007347.5(AP4E1):c.1416A>G (p.Arg472=)
|
rs148239178
|
0.00013
|
NM_007347.5(AP4E1):c.791A>G (p.Asn264Ser)
|
rs145541719
|
0.00013
|
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)
|
rs201569239
|
0.00013
|
NM_014363.6(SACS):c.2175C>G (p.Ala725=)
|
rs756363296
|
0.00013
|
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)
|
rs186436335
|
0.00013
|
NM_014363.6(SACS):c.9399A>G (p.Lys3133=)
|
rs762665640
|
0.00013
|
NM_015346.4(ZFYVE26):c.2742C>T (p.Ser914=)
|
rs140577908
|
0.00013
|
NM_015346.4(ZFYVE26):c.5225C>G (p.Ser1742Cys)
|
rs193244014
|
0.00013
|
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=)
|
rs199794711
|
0.00013
|
NM_020435.4(GJC2):c.519C>T (p.Gly173=)
|
rs772545343
|
0.00013
|
NM_024306.5(FA2H):c.798C>T (p.Asp266=)
|
rs771402018
|
0.00013
|
NM_183075.3(CYP2U1):c.517G>A (p.Val173Ile)
|
rs374109524
|
0.00013
|
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)
|
rs748402153
|
0.00012
|
NM_005619.5(RTN2):c.981G>A (p.Pro327=)
|
rs368114241
|
0.00012
|
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu)
|
rs377027736
|
0.00012
|
NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly)
|
rs550068559
|
0.00012
|
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)
|
rs141553858
|
0.00012
|
NM_014363.6(SACS):c.3414T>C (p.Asn1138=)
|
rs146431793
|
0.00012
|
NM_014363.6(SACS):c.3423G>A (p.Leu1141=)
|
rs184541898
|
0.00012
|
NM_014363.6(SACS):c.4998A>G (p.Thr1666=)
|
rs184994682
|
0.00012
|
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn)
|
rs144715822
|
0.00012
|
NM_014363.6(SACS):c.7641A>G (p.Lys2547=)
|
rs780021681
|
0.00012
|
NM_015346.4(ZFYVE26):c.1351C>T (p.Leu451Phe)
|
rs199989945
|
0.00012
|
NM_015346.4(ZFYVE26):c.3300G>T (p.Leu1100=)
|
rs555141551
|
0.00012
|
NM_015346.4(ZFYVE26):c.3695G>A (p.Cys1232Tyr)
|
rs150010519
|
0.00012
|
NM_015346.4(ZFYVE26):c.6507C>T (p.Asn2169=)
|
rs151192916
|
0.00012
|
NM_015346.4(ZFYVE26):c.894G>A (p.Pro298=)
|
rs34082929
|
0.00012
|
NM_024306.5(FA2H):c.471C>G (p.His157Gln)
|
rs146060468
|
0.00012
|
NM_183075.3(CYP2U1):c.1004G>C (p.Ser335Thr)
|
rs142944337
|
0.00012
|
NM_002156.5(HSPD1):c.1488A>G (p.Gln496=)
|
rs142434256
|
0.00011
|
NM_004187.5(KDM5C):c.3496C>T (p.Arg1166Cys)
|
rs372624621
|
0.00011
|
NM_004187.5(KDM5C):c.4611G>A (p.Ser1537=)
|
rs149733911
|
0.00011
|
NM_004733.4(SLC33A1):c.132C>T (p.Gly44=)
|
rs144120239
|
0.00011
|
NM_004733.4(SLC33A1):c.750A>G (p.Gln250=)
|
rs15594
|
0.00011
|
NM_004733.4(SLC33A1):c.879G>A (p.Gly293=)
|
rs143409270
|
0.00011
|
NM_004984.4(KIF5A):c.2361+7G>A
|
rs371567825
|
0.00011
|
NM_004984.4(KIF5A):c.3033G>A (p.Pro1011=)
|
rs148434838
|
0.00011
|
NM_005619.5(RTN2):c.1021A>G (p.Met341Val)
|
rs374003662
|
0.00011
|
NM_005619.5(RTN2):c.560-7G>A
|
rs370068938
|
0.00011
|
NM_014363.6(SACS):c.12018G>A (p.Leu4006=)
|
rs774074913
|
0.00011
|
NM_014363.6(SACS):c.13014T>C (p.Pro4338=)
|
rs374410231
|
0.00011
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu)
|
rs201857647
|
0.00011
|
NM_014363.6(SACS):c.4689G>A (p.Val1563=)
|
rs574231650
|
0.00011
|
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)
|
rs145371235
|
0.00011
|
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)
|
rs201866523
|
0.00011
|
NM_014363.6(SACS):c.591C>T (p.Val197=)
|
rs750923640
|
0.00011
|
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys)
|
rs201798841
|
0.00011
|
NM_015346.4(ZFYVE26):c.4548G>A (p.Ala1516=)
|
rs370722589
|
0.00011
|
NM_020944.3(GBA2):c.2744T>C (p.Phe915Ser)
|
rs143456960
|
0.00011
|
NM_020944.3(GBA2):c.29G>A (p.Gly10Glu)
|
rs779487525
|
0.00011
|
NM_183075.3(CYP2U1):c.1161C>T (p.Gly387=)
|
rs150288490
|
0.00011
|
NM_001478.5(B4GALNT1):c.48C>A (p.Ala16=)
|
rs545189363
|
0.00010
|
NM_004733.4(SLC33A1):c.687T>C (p.Asn229=)
|
rs146423648
|
0.00010
|
NM_004820.5(CYP7B1):c.122+9C>T
|
rs968898541
|
0.00010
|
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=)
|
rs370644634
|
0.00010
|
NM_006517.5(SLC16A2):c.1502A>G (p.His501Arg)
|
rs140303247
|
0.00010
|
NM_007347.5(AP4E1):c.3238A>G (p.Ile1080Val)
|
rs767423538
|
0.00010
|
NM_014363.6(SACS):c.11244A>G (p.Val3748=)
|
rs757808619
|
0.00010
|
NM_014363.6(SACS):c.1464G>A (p.Pro488=)
|
rs375352514
|
0.00010
|
NM_014363.6(SACS):c.2409C>T (p.Ile803=)
|
rs146198963
|
0.00010
|
NM_014363.6(SACS):c.2494T>C (p.Ser832Pro)
|
rs549957998
|
0.00010
|
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)
|
rs200517685
|
0.00010
|
NM_014363.6(SACS):c.5112C>T (p.Asn1704=)
|
rs150065076
|
0.00010
|
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)
|
rs147517201
|
0.00010
|
NM_014363.6(SACS):c.5625T>C (p.Pro1875=)
|
rs1241658594
|
0.00010
|
NM_014363.6(SACS):c.5790C>T (p.Asp1930=)
|
rs137910940
|
0.00010
|
NM_015346.4(ZFYVE26):c.1359C>T (p.Asn453=)
|
rs750292711
|
0.00010
|
NM_015346.4(ZFYVE26):c.558C>T (p.His186=)
|
rs190946830
|
0.00010
|
NM_024306.5(FA2H):c.786+7G>A
|
rs368669121
|
0.00010
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
NM_001012301.4(ARSI):c.381C>T (p.Asp127=)
|
rs141802155
|
0.00009
|
NM_001012301.4(ARSI):c.789C>T (p.Tyr263=)
|
rs201644621
|
0.00009
|
NM_004733.4(SLC33A1):c.267G>A (p.Leu89=)
|
rs370658911
|
0.00009
|
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu)
|
rs200328073
|
0.00009
|
NM_004984.4(KIF5A):c.2775C>A (p.Gly925=)
|
rs759750438
|
0.00009
|
NM_006517.5(SLC16A2):c.111T>A (p.Pro37=)
|
rs762215475
|
0.00009
|
NM_007347.5(AP4E1):c.2380A>G (p.Arg794Gly)
|
rs200528314
|
0.00009
|
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)
|
rs373478772
|
0.00009
|
NM_014363.6(SACS):c.2040C>T (p.Ser680=)
|
rs142115704
|
0.00009
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
0.00009
|
NM_014363.6(SACS):c.9610A>G (p.Lys3204Glu)
|
rs200288861
|
0.00009
|
NM_015346.4(ZFYVE26):c.1710G>C (p.Leu570=)
|
rs145882661
|
0.00009
|
NM_015346.4(ZFYVE26):c.4035G>T (p.Val1345=)
|
rs374530573
|
0.00009
|
NM_015346.4(ZFYVE26):c.5484+12C>T
|
rs200872341
|
0.00009
|
NM_015346.4(ZFYVE26):c.6135C>T (p.Ala2045=)
|
rs146209388
|
0.00009
|
NM_015346.4(ZFYVE26):c.6339A>G (p.Leu2113=)
|
rs764363798
|
0.00009
|
NM_015346.4(ZFYVE26):c.6762G>A (p.Leu2254=)
|
rs747600168
|
0.00009
|
NM_015346.4(ZFYVE26):c.951C>T (p.Ala317=)
|
rs142029189
|
0.00009
|
NM_020944.3(GBA2):c.2778A>C (p.Pro926=)
|
rs777114371
|
0.00009
|
NM_020944.3(GBA2):c.360-6C>T
|
rs780264254
|
0.00009
|
NM_183075.3(CYP2U1):c.1044T>C (p.Asp348=)
|
rs374633238
|
0.00009
|
NM_183075.3(CYP2U1):c.629T>C (p.Met210Thr)
|
rs143913941
|
0.00009
|
NM_001278116.2(L1CAM):c.1863C>T (p.Ser621=)
|
rs782026679
|
0.00008
|
NM_001478.5(B4GALNT1):c.491-9T>C
|
rs1304777329
|
0.00008
|
NM_002156.5(HSPD1):c.175-7C>T
|
rs374694909
|
0.00008
|
NM_002156.5(HSPD1):c.428-15A>G
|
rs769110777
|
0.00008
|
NM_004820.5(CYP7B1):c.260-16C>T
|
rs566878245
|
0.00008
|
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=)
|
rs535511484
|
0.00008
|
NM_004984.4(KIF5A):c.1714C>T (p.Leu572=)
|
rs138475832
|
0.00008
|
NM_004984.4(KIF5A):c.1740C>T (p.Ile580=)
|
rs149622711
|
0.00008
|
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His)
|
rs767911747
|
0.00008
|
NM_004984.4(KIF5A):c.3024T>C (p.Ser1008=)
|
rs766259270
|
0.00008
|
NM_004984.4(KIF5A):c.801C>T (p.Ser267=)
|
rs368628303
|
0.00008
|
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=)
|
rs200292614
|
0.00008
|
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn)
|
rs190623423
|
0.00008
|
NM_014363.6(SACS):c.10981G>A (p.Ala3661Thr)
|
rs760466234
|
0.00008
|
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val)
|
rs142926244
|
0.00008
|
NM_014363.6(SACS):c.13735G>A (p.Val4579Met)
|
rs571999908
|
0.00008
|
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)
|
rs200333323
|
0.00008
|
NM_014363.6(SACS):c.21-5C>T
|
rs565378672
|
0.00008
|
NM_014363.6(SACS):c.279G>A (p.Thr93=)
|
rs373415912
|
0.00008
|
NM_014363.6(SACS):c.9246T>C (p.Cys3082=)
|
rs199696650
|
0.00008
|
NM_015346.4(ZFYVE26):c.4974+5G>A
|
rs757204134
|
0.00008
|
NM_015346.4(ZFYVE26):c.5112G>A (p.Leu1704=)
|
rs200196596
|
0.00008
|
NM_015346.4(ZFYVE26):c.684C>T (p.Pro228=)
|
rs369761894
|
0.00008
|
NM_020435.4(GJC2):c.1057C>T (p.Leu353=)
|
rs750932850
|
0.00008
|
NM_001278116.2(L1CAM):c.2106G>A (p.Pro702=)
|
rs200561489
|
0.00007
|
NM_001278116.2(L1CAM):c.232C>T (p.Pro78Ser)
|
rs144542429
|
0.00007
|
NM_001478.5(B4GALNT1):c.1029C>G (p.Ala343=)
|
rs762519517
|
0.00007
|
NM_001478.5(B4GALNT1):c.384-4C>T
|
rs542474280
|
0.00007
|
NM_001478.5(B4GALNT1):c.727G>A (p.Glu243Lys)
|
rs768739099
|
0.00007
|
NM_004187.5(KDM5C):c.2493A>G (p.Gly831=)
|
rs1279367848
|
0.00007
|
NM_004187.5(KDM5C):c.3533C>T (p.Ser1178Leu)
|
rs370672146
|
0.00007
|
NM_004984.4(KIF5A):c.1926G>A (p.Ser642=)
|
rs377649745
|
0.00007
|
NM_004984.4(KIF5A):c.2262C>T (p.Ser754=)
|
rs143260492
|
0.00007
|
NM_004984.4(KIF5A):c.2955C>T (p.Gly985=)
|
rs202074843
|
0.00007
|
NM_014363.6(SACS):c.10909A>G (p.Met3637Val)
|
rs150309559
|
0.00007
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
NM_014363.6(SACS):c.12582T>C (p.Tyr4194=)
|
rs1002489210
|
0.00007
|
NM_014363.6(SACS):c.3975G>A (p.Glu1325=)
|
rs547483320
|
0.00007
|
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys)
|
rs375805688
|
0.00007
|
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)
|
rs370095300
|
0.00007
|
NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly)
|
rs9552930
|
0.00007
|
NM_014363.6(SACS):c.8646T>C (p.His2882=)
|
rs374508473
|
0.00007
|
NM_015346.4(ZFYVE26):c.1089G>A (p.Arg363=)
|
rs375381402
|
0.00007
|
NM_015346.4(ZFYVE26):c.1260A>C (p.Ile420=)
|
rs762843838
|
0.00007
|
NM_015346.4(ZFYVE26):c.5865T>C (p.Ile1955=)
|
rs145652212
|
0.00007
|
NM_015346.4(ZFYVE26):c.6589-17G>A
|
rs185888528
|
0.00007
|
NM_015346.4(ZFYVE26):c.6789C>T (p.Asp2263=)
|
rs372463199
|
0.00007
|
NM_015346.4(ZFYVE26):c.991A>G (p.Asn331Asp)
|
rs199630965
|
0.00007
|
NM_020944.3(GBA2):c.1995C>A (p.Leu665=)
|
rs139510090
|
0.00007
|
NM_024306.5(FA2H):c.733G>A (p.Asp245Asn)
|
rs201126702
|
0.00007
|
NM_183075.3(CYP2U1):c.1116C>T (p.Pro372=)
|
rs373823906
|
0.00007
|
NM_001012301.4(ARSI):c.567C>T (p.Cys189=)
|
rs112533194
|
0.00006
|
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=)
|
rs200768501
|
0.00006
|
NM_001385875.1(ZFYVE27):c.717A>G (p.Glu239=)
|
rs753246302
|
0.00006
|
NM_001478.5(B4GALNT1):c.432G>A (p.Pro144=)
|
rs144076705
|
0.00006
|
NM_002156.5(HSPD1):c.819A>T (p.Ile273=)
|
rs376584082
|
0.00006
|
NM_004187.5(KDM5C):c.1902C>A (p.Arg634=)
|
rs373931846
|
0.00006
|
NM_004820.5(CYP7B1):c.122+8C>T
|
rs759732698
|
0.00006
|
NM_004820.5(CYP7B1):c.204G>A (p.Arg68=)
|
rs377119798
|
0.00006
|
NM_004820.5(CYP7B1):c.543T>C (p.Tyr181=)
|
rs367723235
|
0.00006
|
NM_004984.4(KIF5A):c.1090G>A (p.Glu364Lys)
|
rs371335708
|
0.00006
|
NM_004984.4(KIF5A):c.1173C>T (p.Ala391=)
|
rs780381269
|
0.00006
|
NM_004984.4(KIF5A):c.2472C>T (p.His824=)
|
rs201743611
|
0.00006
|
NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser)
|
rs371548640
|
0.00006
|
NM_004984.4(KIF5A):c.894G>A (p.Thr298=)
|
rs763135764
|
0.00006
|
NM_005619.5(RTN2):c.1068G>A (p.Thr356=)
|
rs370997046
|
0.00006
|
NM_005619.5(RTN2):c.327G>A (p.Leu109=)
|
rs144198343
|
0.00006
|
NM_007175.8(ERLIN2):c.219T>C (p.Asn73=)
|
rs377044758
|
0.00006
|
NM_007175.8(ERLIN2):c.557+10C>T
|
rs376022913
|
0.00006
|
NM_007175.8(ERLIN2):c.820-17T>G
|
rs1311010843
|
0.00006
|
NM_007347.5(AP4E1):c.1459T>C (p.Leu487=)
|
rs766895434
|
0.00006
|
NM_007347.5(AP4E1):c.702+9G>C
|
rs371073598
|
0.00006
|
NM_007347.5(AP4E1):c.723A>G (p.Lys241=)
|
rs544897969
|
0.00006
|
NM_014231.5(VAMP1):c.340+9C>T
|
rs771796946
|
0.00006
|
NM_014363.6(SACS):c.10042T>C (p.Leu3348=)
|
rs529925586
|
0.00006
|
NM_014363.6(SACS):c.10047A>G (p.Ser3349=)
|
rs138909482
|
0.00006
|
NM_014363.6(SACS):c.10709T>C (p.Ile3570Thr)
|
rs763440838
|
0.00006
|
NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg)
|
rs1299454627
|
0.00006
|
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)
|
rs201505036
|
0.00006
|
NM_014363.6(SACS):c.11091C>T (p.Leu3697=)
|
rs369430972
|
0.00006
|
NM_014363.6(SACS):c.110G>A (p.Arg37His)
|
rs866539724
|
0.00006
|
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)
|
rs375961779
|
0.00006
|
NM_014363.6(SACS):c.11746T>C (p.Leu3916=)
|
rs370087920
|
0.00006
|
NM_014363.6(SACS):c.11781G>A (p.Ala3927=)
|
rs369998705
|
0.00006
|
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
|
rs200707453
|
0.00006
|
NM_014363.6(SACS):c.12854G>A (p.Ser4285Asn)
|
rs371935764
|
0.00006
|
NM_014363.6(SACS):c.1881G>A (p.Thr627=)
|
rs148398102
|
0.00006
|
NM_014363.6(SACS):c.2487C>T (p.Asp829=)
|
rs151198216
|
0.00006
|
NM_014363.6(SACS):c.2551G>T (p.Val851Phe)
|
rs756890722
|
0.00006
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
NM_014363.6(SACS):c.2788A>G (p.Ile930Val)
|
rs886050088
|
0.00006
|
NM_014363.6(SACS):c.3768C>T (p.Tyr1256=)
|
rs200350631
|
0.00006
|
NM_014363.6(SACS):c.4244C>T (p.Ser1415Phe)
|
rs756436405
|
0.00006
|
NM_014363.6(SACS):c.446C>T (p.Ala149Val)
|
rs370474035
|
0.00006
|
NM_014363.6(SACS):c.4743C>T (p.Phe1581=)
|
rs143310473
|
0.00006
|
NM_014363.6(SACS):c.5529G>C (p.Leu1843=)
|
rs148091738
|
0.00006
|
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)
|
rs755723511
|
0.00006
|
NM_014363.6(SACS):c.6889T>C (p.Leu2297=)
|
rs762976734
|
0.00006
|
NM_014363.6(SACS):c.8424T>C (p.Thr2808=)
|
rs149961028
|
0.00006
|
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)
|
rs201294520
|
0.00006
|
NM_014363.6(SACS):c.954A>G (p.Leu318=)
|
rs147412202
|
0.00006
|
NM_014363.6(SACS):c.9551G>A (p.Arg3184His)
|
rs200453385
|
0.00006
|
NM_014363.6(SACS):c.9903G>T (p.Leu3301=)
|
rs563145604
|
0.00006
|
NM_015346.4(ZFYVE26):c.2097C>A (p.Ile699=)
|
rs142972003
|
0.00006
|
NM_015346.4(ZFYVE26):c.2253G>A (p.Glu751=)
|
rs373115983
|
0.00006
|
NM_015346.4(ZFYVE26):c.2538C>T (p.Phe846=)
|
rs374527998
|
0.00006
|
NM_015346.4(ZFYVE26):c.2859A>T (p.Leu953=)
|
rs189616103
|
0.00006
|
NM_015346.4(ZFYVE26):c.3020-18T>C
|
rs537109323
|
0.00006
|
NM_015346.4(ZFYVE26):c.3036C>T (p.His1012=)
|
rs551159891
|
0.00006
|
NM_015346.4(ZFYVE26):c.4308C>T (p.Tyr1436=)
|
rs369590424
|
0.00006
|
NM_015346.4(ZFYVE26):c.4473G>A (p.Leu1491=)
|
rs754942113
|
0.00006
|
NM_015346.4(ZFYVE26):c.5222-10C>G
|
rs370725103
|
0.00006
|
NM_015346.4(ZFYVE26):c.7050T>C (p.Ala2350=)
|
rs139364887
|
0.00006
|
NM_015346.4(ZFYVE26):c.747C>T (p.Thr249=)
|
rs543334038
|
0.00006
|
NM_020944.3(GBA2):c.2574G>A (p.Leu858=)
|
rs145866042
|
0.00006
|
NM_024306.5(FA2H):c.423C>T (p.Tyr141=)
|
rs201250822
|
0.00006
|
NM_183075.3(CYP2U1):c.1456+8A>G
|
rs377737033
|
0.00006
|
NM_001278116.2(L1CAM):c.1851G>A (p.Arg617=)
|
rs149252900
|
0.00005
|
NM_001278116.2(L1CAM):c.2872+9G>A
|
rs398123363
|
0.00005
|
NM_004187.5(KDM5C):c.3295C>T (p.Leu1099=)
|
rs143471137
|
0.00005
|
NM_004187.5(KDM5C):c.4665G>A (p.Pro1555=)
|
rs370930723
|
0.00005
|
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=)
|
rs535728519
|
0.00005
|
NM_004820.5(CYP7B1):c.122+11C>A
|
rs188892701
|
0.00005
|
NM_004820.5(CYP7B1):c.171A>T (p.Gly57=)
|
rs372135575
|
0.00005
|
NM_004984.4(KIF5A):c.1947C>T (p.Ser649=)
|
rs772609896
|
0.00005
|
NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln)
|
rs554894381
|
0.00005
|
NM_004984.4(KIF5A):c.396+13C>T
|
rs377008480
|
0.00005
|
NM_005619.5(RTN2):c.79G>A (p.Gly27Arg)
|
rs561968273
|
0.00005
|
NM_006517.5(SLC16A2):c.194C>G (p.Pro65Arg)
|
rs748528906
|
0.00005
|
NM_007347.5(AP4E1):c.42A>G (p.Gly14=)
|
rs143027953
|
0.00005
|
NM_014231.5(VAMP1):c.2+12C>T
|
rs200404061
|
0.00005
|
NM_014363.6(SACS):c.10980C>T (p.Pro3660=)
|
rs141353693
|
0.00005
|
NM_014363.6(SACS):c.11363G>A (p.Arg3788His)
|
rs147369196
|
0.00005
|
NM_014363.6(SACS):c.11763C>T (p.Ile3921=)
|
rs749093421
|
0.00005
|
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)
|
rs746953932
|
0.00005
|
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln)
|
rs749599838
|
0.00005
|
NM_014363.6(SACS):c.12744T>C (p.Pro4248=)
|
rs369378277
|
0.00005
|
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val)
|
rs200939906
|
0.00005
|
NM_014363.6(SACS):c.1613C>T (p.Ala538Val)
|
rs368043113
|
0.00005
|
NM_014363.6(SACS):c.3729A>G (p.Glu1243=)
|
rs756663705
|
0.00005
|
NM_014363.6(SACS):c.396A>G (p.Leu132=)
|
rs1256540997
|
0.00005
|
NM_014363.6(SACS):c.4362A>G (p.Ser1454=)
|
rs748395013
|
0.00005
|
NM_014363.6(SACS):c.447G>A (p.Ala149=)
|
rs145681117
|
0.00005
|
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg)
|
rs199998045
|
0.00005
|
NM_014363.6(SACS):c.51C>T (p.Cys17=)
|
rs763979020
|
0.00005
|
NM_014363.6(SACS):c.7042C>T (p.Leu2348=)
|
rs919827837
|
0.00005
|
NM_014363.6(SACS):c.7614A>C (p.Ala2538=)
|
rs142697365
|
0.00005
|
NM_015346.4(ZFYVE26):c.2712T>C (p.Ser904=)
|
rs755854107
|
0.00005
|
NM_015346.4(ZFYVE26):c.2724T>A (p.Thr908=)
|
rs150063715
|
0.00005
|
NM_015346.4(ZFYVE26):c.2756-7C>T
|
rs200721800
|
0.00005
|
NM_015346.4(ZFYVE26):c.4570-6C>T
|
rs551233958
|
0.00005
|
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu)
|
rs761261049
|
0.00005
|
NM_020435.4(GJC2):c.417C>A (p.Ala139=)
|
rs939165968
|
0.00005
|
NM_020435.4(GJC2):c.84C>A (p.Leu28=)
|
rs747205319
|
0.00005
|
NM_024306.5(FA2H):c.924C>T (p.Tyr308=)
|
rs780860426
|
0.00005
|
NM_024306.5(FA2H):c.96C>T (p.Arg32=)
|
rs1012042641
|
0.00005
|
NM_183075.3(CYP2U1):c.1572G>A (p.Leu524=)
|
rs373549777
|
0.00005
|
NM_001128126.3(AP4S1):c.306+4190A>G
|
rs374600997
|
0.00004
|
NM_001278116.2(L1CAM):c.1704-5C>T
|
rs200415748
|
0.00004
|
NM_001278116.2(L1CAM):c.1786G>A (p.Glu596Lys)
|
rs137940405
|
0.00004
|
NM_001278116.2(L1CAM):c.2370C>T (p.Ala790=)
|
rs145717130
|
0.00004
|
NM_001278116.2(L1CAM):c.3016G>A (p.Val1006Ile)
|
rs201128366
|
0.00004
|
NM_001278116.2(L1CAM):c.3531-13C>T
|
rs372190403
|
0.00004
|
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr)
|
rs782752037
|
0.00004
|
NM_001278116.2(L1CAM):c.992-20G>A
|
rs782085756
|
0.00004
|
NM_001478.5(B4GALNT1):c.381G>A (p.Ser127=)
|
rs201294297
|
0.00004
|
NM_001478.5(B4GALNT1):c.828C>T (p.Ser276=)
|
rs750756456
|
0.00004
|
NM_002156.5(HSPD1):c.108C>T (p.Ala36=)
|
rs764224635
|
0.00004
|
NM_002156.5(HSPD1):c.855A>T (p.Thr285=)
|
rs777390686
|
0.00004
|
NM_004733.4(SLC33A1):c.1602G>A (p.Lys534=)
|
rs757490105
|
0.00004
|
NM_004820.5(CYP7B1):c.1233+16G>A
|
rs1324162377
|
0.00004
|
NM_004820.5(CYP7B1):c.142T>C (p.Leu48=)
|
rs767850063
|
0.00004
|
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=)
|
rs372800597
|
0.00004
|
NM_004820.5(CYP7B1):c.850+18A>T
|
rs374380529
|
0.00004
|
NM_004984.4(KIF5A):c.1083G>A (p.Ala361=)
|
rs528282741
|
0.00004
|
NM_004984.4(KIF5A):c.1142G>A (p.Arg381His)
|
rs755855553
|
0.00004
|
NM_004984.4(KIF5A):c.1195G>A (p.Val399Met)
|
rs908820800
|
0.00004
|
NM_004984.4(KIF5A):c.1230G>A (p.Ala410=)
|
rs753565345
|
0.00004
|
NM_004984.4(KIF5A):c.1437C>T (p.Ala479=)
|
rs369229819
|
0.00004
|
NM_004984.4(KIF5A):c.2023+7C>T
|
rs757331201
|
0.00004
|
NM_004984.4(KIF5A):c.2433+14T>C
|
rs376614388
|
0.00004
|
NM_004984.4(KIF5A):c.2781C>T (p.Tyr927=)
|
rs767928175
|
0.00004
|
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser)
|
rs764612223
|
0.00004
|
NM_004984.4(KIF5A):c.292-14C>A
|
rs778921032
|
0.00004
|
NM_004984.4(KIF5A):c.381T>A (p.Leu127=)
|
rs140832607
|
0.00004
|
NM_004984.4(KIF5A):c.483C>T (p.Asn161=)
|
rs371542028
|
0.00004
|
NM_004984.4(KIF5A):c.566C>T (p.Ser189Leu)
|
rs140144799
|
0.00004
|
NM_004984.4(KIF5A):c.660G>A (p.Thr220=)
|
rs762824969
|
0.00004
|
NM_005619.5(RTN2):c.1476C>G (p.Pro492=)
|
rs748824542
|
0.00004
|
NM_005619.5(RTN2):c.986G>A (p.Ser329Asn)
|
rs145653668
|
0.00004
|
NM_006517.5(SLC16A2):c.1500G>C (p.Met500Ile)
|
rs746802653
|
0.00004
|
NM_007347.5(AP4E1):c.1177-14T>C
|
rs760402257
|
0.00004
|
NM_007347.5(AP4E1):c.1316+19C>G
|
rs191927941
|
0.00004
|
NM_007347.5(AP4E1):c.195G>T (p.Ala65=)
|
rs376597376
|
0.00004
|
NM_007347.5(AP4E1):c.2745C>T (p.His915=)
|
rs780821809
|
0.00004
|
NM_007347.5(AP4E1):c.703-13C>T
|
rs969860132
|
0.00004
|
NM_014363.6(SACS):c.10098T>C (p.His3366=)
|
rs150213486
|
0.00004
|
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)
|
rs200591364
|
0.00004
|
NM_014363.6(SACS):c.10119A>G (p.Thr3373=)
|
rs202084381
|
0.00004
|
NM_014363.6(SACS):c.10497C>T (p.Tyr3499=)
|
rs755186798
|
0.00004
|
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val)
|
rs199881455
|
0.00004
|
NM_014363.6(SACS):c.11049T>C (p.Asn3683=)
|
rs773770705
|
0.00004
|
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)
|
rs780789569
|
0.00004
|
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met)
|
rs751176093
|
0.00004
|
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn)
|
rs762041995
|
0.00004
|
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)
|
rs145188410
|
0.00004
|
NM_014363.6(SACS):c.11655C>T (p.Phe3885=)
|
rs780904104
|
0.00004
|
NM_014363.6(SACS):c.12297G>T (p.Leu4099=)
|
rs200793339
|
0.00004
|
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)
|
rs150225486
|
0.00004
|
NM_014363.6(SACS):c.12969G>A (p.Ser4323=)
|
rs745807927
|
0.00004
|
NM_014363.6(SACS):c.13443C>G (p.Thr4481=)
|
rs201439638
|
0.00004
|
NM_014363.6(SACS):c.134C>T (p.Pro45Leu)
|
rs1033188876
|
0.00004
|
NM_014363.6(SACS):c.1387C>A (p.His463Asn)
|
rs149951538
|
0.00004
|
NM_014363.6(SACS):c.151C>T (p.Leu51=)
|
rs979224977
|
0.00004
|
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu)
|
rs140507581
|
0.00004
|
NM_014363.6(SACS):c.1641G>A (p.Pro547=)
|
rs370143541
|
0.00004
|
NM_014363.6(SACS):c.1815A>G (p.Pro605=)
|
rs377649927
|
0.00004
|
NM_014363.6(SACS):c.1905G>A (p.Leu635=)
|
rs771581634
|
0.00004
|
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr)
|
rs778572943
|
0.00004
|
NM_014363.6(SACS):c.2653T>C (p.Leu885=)
|
rs202075357
|
0.00004
|
NM_014363.6(SACS):c.2927G>A (p.Arg976His)
|
rs751415868
|
0.00004
|
NM_014363.6(SACS):c.321T>C (p.Tyr107=)
|
rs370370098
|
0.00004
|
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg)
|
rs374961109
|
0.00004
|
NM_014363.6(SACS):c.3771A>T (p.Gly1257=)
|
rs761920446
|
0.00004
|
NM_014363.6(SACS):c.3825T>C (p.Phe1275=)
|
rs371761945
|
0.00004
|
NM_014363.6(SACS):c.4050A>G (p.Gln1350=)
|
rs756014483
|
0.00004
|
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
|
rs138245586
|
0.00004
|
NM_014363.6(SACS):c.458-17C>T
|
rs765491872
|
0.00004
|
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)
|
rs764992284
|
0.00004
|
NM_014363.6(SACS):c.5832A>G (p.Ala1944=)
|
rs374169472
|
0.00004
|
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile)
|
rs191995849
|
0.00004
|
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)
|
rs769751841
|
0.00004
|
NM_014363.6(SACS):c.6095C>T (p.Ser2032Leu)
|
rs551141655
|
0.00004
|
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu)
|
rs201690040
|
0.00004
|
NM_014363.6(SACS):c.6447T>C (p.Val2149=)
|
rs373110459
|
0.00004
|
NM_014363.6(SACS):c.6879T>C (p.Val2293=)
|
rs761370882
|
0.00004
|
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys)
|
rs772611372
|
0.00004
|
NM_014363.6(SACS):c.7449T>C (p.Tyr2483=)
|
rs755218751
|
0.00004
|
NM_014363.6(SACS):c.7650T>G (p.Leu2550=)
|
rs764887405
|
0.00004
|
NM_014363.6(SACS):c.7989C>T (p.Pro2663=)
|
rs766086455
|
0.00004
|
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)
|
rs763504656
|
0.00004
|
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)
|
rs749327297
|
0.00004
|
NM_014363.6(SACS):c.8634G>C (p.Gly2878=)
|
rs745677991
|
0.00004
|
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val)
|
rs377657177
|
0.00004
|
NM_014363.6(SACS):c.9090A>G (p.Leu3030=)
|
rs754628665
|
0.00004
|
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
|
rs149290718
|
0.00004
|
NM_014363.6(SACS):c.9378A>G (p.Leu3126=)
|
rs749919322
|
0.00004
|
NM_014363.6(SACS):c.9788A>G (p.Glu3263Gly)
|
rs369713918
|
0.00004
|
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)
|
rs775506976
|
0.00004
|
NM_015346.4(ZFYVE26):c.1068C>T (p.Cys356=)
|
rs368231190
|
0.00004
|
NM_015346.4(ZFYVE26):c.1446T>C (p.Asp482=)
|
rs1271595969
|
0.00004
|
NM_015346.4(ZFYVE26):c.2589T>C (p.Ser863=)
|
rs764971003
|
0.00004
|
NM_015346.4(ZFYVE26):c.2682G>A (p.Ala894=)
|
rs375046805
|
0.00004
|
NM_015346.4(ZFYVE26):c.2781C>T (p.Asp927=)
|
rs573157419
|
0.00004
|
NM_015346.4(ZFYVE26):c.2853G>A (p.Thr951=)
|
rs765380018
|
0.00004
|
NM_015346.4(ZFYVE26):c.2865G>A (p.Glu955=)
|
rs754092664
|
0.00004
|
NM_015346.4(ZFYVE26):c.3381G>A (p.Val1127=)
|
rs559649836
|
0.00004
|
NM_015346.4(ZFYVE26):c.3524-10A>G
|
rs781088083
|
0.00004
|
NM_015346.4(ZFYVE26):c.3780C>T (p.His1260=)
|
rs749435914
|
0.00004
|
NM_015346.4(ZFYVE26):c.411C>T (p.Asp137=)
|
rs199604823
|
0.00004
|
NM_015346.4(ZFYVE26):c.4125G>A (p.Glu1375=)
|
rs374188915
|
0.00004
|
NM_015346.4(ZFYVE26):c.4956G>A (p.Ala1652=)
|
rs201010656
|
0.00004
|
NM_015346.4(ZFYVE26):c.4974+9A>G
|
rs368073585
|
0.00004
|
NM_015346.4(ZFYVE26):c.540C>T (p.Asp180=)
|
rs150289689
|
0.00004
|
NM_015346.4(ZFYVE26):c.575C>A (p.Ala192Glu)
|
rs369886014
|
0.00004
|
NM_015346.4(ZFYVE26):c.6160-13A>G
|
rs759043669
|
0.00004
|
NM_015346.4(ZFYVE26):c.6195G>A (p.Ala2065=)
|
rs148139928
|
0.00004
|
NM_015346.4(ZFYVE26):c.6252G>A (p.Glu2084=)
|
rs770536914
|
0.00004
|
NM_015346.4(ZFYVE26):c.6342G>A (p.Glu2114=)
|
rs546006740
|
0.00004
|
NM_015346.4(ZFYVE26):c.639G>A (p.Gly213=)
|
rs776664801
|
0.00004
|
NM_015346.4(ZFYVE26):c.6423G>A (p.Thr2141=)
|
rs142448052
|
0.00004
|
NM_015346.4(ZFYVE26):c.7116T>C (p.Asp2372=)
|
rs757514981
|
0.00004
|
NM_015346.4(ZFYVE26):c.7128+12G>A
|
rs199517648
|
0.00004
|
NM_015346.4(ZFYVE26):c.7128+17A>T
|
rs370755806
|
0.00004
|
NM_015346.4(ZFYVE26):c.828C>T (p.Gly276=)
|
rs766703067
|
0.00004
|
NM_020435.4(GJC2):c.486C>T (p.Ala162=)
|
rs1260532478
|
0.00004
|
NM_020435.4(GJC2):c.810T>G (p.Val270=)
|
rs760412672
|
0.00004
|
NM_020944.3(GBA2):c.1767C>T (p.Asn589=)
|
rs551404840
|
0.00004
|
NM_020944.3(GBA2):c.300C>G (p.Pro100=)
|
rs202140393
|
0.00004
|
NM_183075.3(CYP2U1):c.1170A>G (p.Arg390=)
|
rs369480165
|
0.00004
|
NM_183075.3(CYP2U1):c.696T>C (p.Ile232=)
|
rs765631121
|
0.00004
|
NM_001278116.2(L1CAM):c.1670G>C (p.Gly557Ala)
|
rs781845582
|
0.00003
|
NM_001278116.2(L1CAM):c.1781G>A (p.Ser594Asn)
|
rs202107752
|
0.00003
|
NM_001278116.2(L1CAM):c.3322+11G>A
|
rs1372534909
|
0.00003
|
NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys)
|
rs1064796541
|
0.00003
|
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)
|
rs201978087
|
0.00003
|
NM_001278116.2(L1CAM):c.990G>A (p.Glu330=)
|
rs200004370
|
0.00003
|
NM_001385875.1(ZFYVE27):c.340C>T (p.Arg114Trp)
|
rs374171984
|
0.00003
|
NM_002156.5(HSPD1):c.1614G>C (p.Leu538=)
|
rs748662234
|
0.00003
|
NM_002156.5(HSPD1):c.175-8T>C
|
rs772029212
|
0.00003
|
NM_002156.5(HSPD1):c.511-18G>A
|
rs765859683
|
0.00003
|
NM_004820.5(CYP7B1):c.1008A>T (p.Gly336=)
|
rs1229194379
|
0.00003
|
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=)
|
rs201281307
|
0.00003
|
NM_004984.4(KIF5A):c.1167G>A (p.Leu389=)
|
rs758700375
|
0.00003
|
NM_004984.4(KIF5A):c.1233C>T (p.Pro411=)
|
rs757235645
|
0.00003
|
NM_004984.4(KIF5A):c.1251C>T (p.Tyr417=)
|
rs780256557
|
0.00003
|
NM_004984.4(KIF5A):c.1390G>A (p.Glu464Lys)
|
rs962405110
|
0.00003
|
NM_004984.4(KIF5A):c.159C>T (p.Phe53=)
|
rs536777412
|
0.00003
|
NM_004984.4(KIF5A):c.1620T>C (p.Ser540=)
|
rs1307744841
|
0.00003
|
NM_004984.4(KIF5A):c.1866C>T (p.Thr622=)
|
rs144382702
|
0.00003
|
NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp)
|
rs377539747
|
0.00003
|
NM_004984.4(KIF5A):c.2248G>A (p.Glu750Lys)
|
rs1218452123
|
0.00003
|
NM_004984.4(KIF5A):c.2289G>A (p.Leu763=)
|
rs377232772
|
0.00003
|
NM_004984.4(KIF5A):c.2782C>T (p.Pro928Ser)
|
rs1163611256
|
0.00003
|
NM_004984.4(KIF5A):c.292-6C>T
|
rs369913032
|
0.00003
|
NM_004984.4(KIF5A):c.2926A>G (p.Thr976Ala)
|
rs146406013
|
0.00003
|
NM_004984.4(KIF5A):c.2992+18G>T
|
rs745773241
|
0.00003
|
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg)
|
rs758987045
|
0.00003
|
NM_004984.4(KIF5A):c.750C>T (p.Asp250=)
|
rs375693647
|
0.00003
|
NM_004984.4(KIF5A):c.846C>T (p.Ser282=)
|
rs149888065
|
0.00003
|
NM_005619.5(RTN2):c.1037C>T (p.Ala346Val)
|
rs1176639498
|
0.00003
|
NM_005619.5(RTN2):c.1209C>T (p.Ala403=)
|
rs140427245
|
0.00003
|
NM_005619.5(RTN2):c.1239C>T (p.Phe413=)
|
rs917119159
|
0.00003
|
NM_005619.5(RTN2):c.1325C>T (p.Ala442Val)
|
rs201863499
|
0.00003
|
NM_006517.5(SLC16A2):c.147C>G (p.Pro49=)
|
rs1320434227
|
0.00003
|
NM_007175.8(ERLIN2):c.366C>T (p.His122=)
|
rs374568375
|
0.00003
|
NM_007347.5(AP4E1):c.1083C>T (p.Thr361=)
|
rs376935620
|
0.00003
|
NM_007347.5(AP4E1):c.1429+12A>C
|
rs768941074
|
0.00003
|
NM_007347.5(AP4E1):c.1429+9A>G
|
rs201037776
|
0.00003
|
NM_007347.5(AP4E1):c.2250A>G (p.Gln750=)
|
rs749255552
|
0.00003
|
NM_007347.5(AP4E1):c.3095+7G>A
|
rs375990430
|
0.00003
|
NM_007347.5(AP4E1):c.399C>G (p.Leu133=)
|
rs754675487
|
0.00003
|
NM_007347.5(AP4E1):c.459A>C (p.Ala153=)
|
rs184712259
|
0.00003
|
NM_007347.5(AP4E1):c.573A>T (p.Ala191=)
|
rs368895241
|
0.00003
|
NM_007347.5(AP4E1):c.975T>C (p.Tyr325=)
|
rs776281271
|
0.00003
|
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)
|
rs375898103
|
0.00003
|
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)
|
rs543563990
|
0.00003
|
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys)
|
rs765758197
|
0.00003
|
NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr)
|
rs767281295
|
0.00003
|
NM_014363.6(SACS):c.10620C>T (p.Phe3540=)
|
rs192339917
|
0.00003
|
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)
|
rs755172172
|
0.00003
|
NM_014363.6(SACS):c.11280G>A (p.Thr3760=)
|
rs193116488
|
0.00003
|
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)
|
rs1170997950
|
0.00003
|
NM_014363.6(SACS):c.11343T>C (p.Ser3781=)
|
rs372697823
|
0.00003
|
NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu)
|
rs774349752
|
0.00003
|
NM_014363.6(SACS):c.12909A>G (p.Leu4303=)
|
rs766310291
|
0.00003
|
NM_014363.6(SACS):c.13338A>G (p.Glu4446=)
|
rs776796928
|
0.00003
|
NM_014363.6(SACS):c.135G>C (p.Pro45=)
|
rs532332781
|
0.00003
|
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)
|
rs769260277
|
0.00003
|
NM_014363.6(SACS):c.147G>A (p.Gln49=)
|
rs747237629
|
0.00003
|
NM_014363.6(SACS):c.159C>G (p.Arg53=)
|
rs968138431
|
0.00003
|
NM_014363.6(SACS):c.1797G>A (p.Lys599=)
|
rs746842075
|
0.00003
|
NM_014363.6(SACS):c.1886C>T (p.Ala629Val)
|
rs760505057
|
0.00003
|
NM_014363.6(SACS):c.1887G>T (p.Ala629=)
|
rs772895627
|
0.00003
|
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp)
|
rs201752905
|
0.00003
|
NM_014363.6(SACS):c.2460C>T (p.Leu820=)
|
rs761330691
|
0.00003
|
NM_014363.6(SACS):c.259+9T>C
|
rs780820263
|
0.00003
|
NM_014363.6(SACS):c.260-10C>T
|
rs746220432
|
0.00003
|
NM_014363.6(SACS):c.2853C>A (p.His951Gln)
|
rs200644511
|
0.00003
|
NM_014363.6(SACS):c.3105A>G (p.Thr1035=)
|
rs1176829935
|
0.00003
|
NM_014363.6(SACS):c.3393C>T (p.Leu1131=)
|
rs543758739
|
0.00003
|
NM_014363.6(SACS):c.4098G>C (p.Leu1366=)
|
rs200381539
|
0.00003
|
NM_014363.6(SACS):c.4419A>C (p.Ser1473=)
|
rs375061528
|
0.00003
|
NM_014363.6(SACS):c.5169A>G (p.Ala1723=)
|
rs200699984
|
0.00003
|
NM_014363.6(SACS):c.5458C>T (p.Leu1820=)
|
rs754748296
|
0.00003
|
NM_014363.6(SACS):c.552T>G (p.Pro184=)
|
rs140637560
|
0.00003
|
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn)
|
rs772515267
|
0.00003
|
NM_014363.6(SACS):c.5946A>G (p.Gly1982=)
|
rs746358078
|
0.00003
|
NM_014363.6(SACS):c.6135A>T (p.Ile2045=)
|
rs532996087
|
0.00003
|
NM_014363.6(SACS):c.6728C>T (p.Thr2243Ile)
|
rs749102723
|
0.00003
|
NM_014363.6(SACS):c.6750T>C (p.His2250=)
|
rs771083587
|
0.00003
|
NM_014363.6(SACS):c.7101G>A (p.Ala2367=)
|
rs764702321
|
0.00003
|
NM_014363.6(SACS):c.7497C>T (p.Val2499=)
|
rs774558627
|
0.00003
|
NM_014363.6(SACS):c.7632A>G (p.Glu2544=)
|
rs752179231
|
0.00003
|
NM_014363.6(SACS):c.7824A>G (p.Gly2608=)
|
rs765747016
|
0.00003
|
NM_014363.6(SACS):c.789C>T (p.Asn263=)
|
rs771920263
|
0.00003
|
NM_014363.6(SACS):c.7968A>C (p.Pro2656=)
|
rs748718131
|
0.00003
|
NM_014363.6(SACS):c.8142G>A (p.Ser2714=)
|
rs530250252
|
0.00003
|
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)
|
rs760976439
|
0.00003
|
NM_014363.6(SACS):c.8693G>A (p.Arg2898His)
|
rs201977288
|
0.00003
|
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln)
|
rs139670073
|
0.00003
|
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala)
|
rs201899988
|
0.00003
|
NM_014363.6(SACS):c.93G>T (p.Val31=)
|
rs1235785042
|
0.00003
|
NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu)
|
rs779195622
|
0.00003
|
NM_015346.4(ZFYVE26):c.12A>G (p.Pro4=)
|
rs771176360
|
0.00003
|
NM_015346.4(ZFYVE26):c.1410A>G (p.Pro470=)
|
rs200601644
|
0.00003
|
NM_015346.4(ZFYVE26):c.1435+8G>A
|
rs779576115
|
0.00003
|
NM_015346.4(ZFYVE26):c.147G>A (p.Arg49=)
|
rs756229464
|
0.00003
|
NM_015346.4(ZFYVE26):c.2397G>A (p.Thr799=)
|
rs146003951
|
0.00003
|
NM_015346.4(ZFYVE26):c.249G>T (p.Leu83=)
|
rs199674363
|
0.00003
|
NM_015346.4(ZFYVE26):c.2922A>G (p.Ala974=)
|
rs1482177785
|
0.00003
|
NM_015346.4(ZFYVE26):c.3483C>G (p.Thr1161=)
|
rs373253472
|
0.00003
|
NM_015346.4(ZFYVE26):c.3498C>T (p.Leu1166=)
|
rs766483153
|
0.00003
|
NM_015346.4(ZFYVE26):c.3524-8C>T
|
rs754951927
|
0.00003
|
NM_015346.4(ZFYVE26):c.3849A>G (p.Thr1283=)
|
rs200123452
|
0.00003
|
NM_015346.4(ZFYVE26):c.3909T>C (p.Ser1303=)
|
rs147231904
|
0.00003
|
NM_015346.4(ZFYVE26):c.403G>A (p.Val135Met)
|
rs771937001
|
0.00003
|
NM_015346.4(ZFYVE26):c.4323C>T (p.Asp1441=)
|
rs751803624
|
0.00003
|
NM_015346.4(ZFYVE26):c.4794G>T (p.Leu1598=)
|
rs372337960
|
0.00003
|
NM_015346.4(ZFYVE26):c.4863C>T (p.His1621=)
|
rs765148518
|
0.00003
|
NM_015346.4(ZFYVE26):c.5568C>T (p.Cys1856=)
|
rs772482784
|
0.00003
|
NM_015346.4(ZFYVE26):c.5955C>T (p.Ser1985=)
|
rs750847486
|
0.00003
|
NM_015346.4(ZFYVE26):c.5958C>T (p.Ala1986=)
|
rs371142658
|
0.00003
|
NM_015346.4(ZFYVE26):c.630G>A (p.Val210=)
|
rs769763847
|
0.00003
|
NM_015346.4(ZFYVE26):c.6456G>C (p.Gly2152=)
|
rs140345788
|
0.00003
|
NM_015346.4(ZFYVE26):c.6846T>C (p.Tyr2282=)
|
rs752726358
|
0.00003
|
NM_015346.4(ZFYVE26):c.6876A>G (p.Leu2292=)
|
rs773663147
|
0.00003
|
NM_015346.4(ZFYVE26):c.7278C>G (p.Leu2426=)
|
rs773532707
|
0.00003
|
NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=)
|
rs147321202
|
0.00003
|
NM_015346.4(ZFYVE26):c.732A>G (p.Leu244=)
|
rs372055478
|
0.00003
|
NM_015346.4(ZFYVE26):c.987C>T (p.Ser329=)
|
rs761049302
|
0.00003
|
NM_020435.4(GJC2):c.291C>T (p.Tyr97=)
|
rs202209462
|
0.00003
|
NM_020435.4(GJC2):c.408T>C (p.Pro136=)
|
rs1226490782
|
0.00003
|
NM_020944.3(GBA2):c.840C>T (p.Asp280=)
|
rs372070908
|
0.00003
|
NM_024306.5(FA2H):c.1071C>T (p.Tyr357=)
|
rs558457701
|
0.00003
|
NM_024306.5(FA2H):c.531G>A (p.Val177=)
|
rs775888031
|
0.00003
|
NM_024306.5(FA2H):c.675C>G (p.Leu225=)
|
rs371803211
|
0.00003
|
NM_183075.3(CYP2U1):c.417G>A (p.Ala139=)
|
rs773648558
|
0.00003
|
NM_001012301.4(ARSI):c.1575T>C (p.Ser525=)
|
rs1413488427
|
0.00002
|
NM_001278116.2(L1CAM):c.1148G>A (p.Arg383Gln)
|
rs782254209
|
0.00002
|
NM_001278116.2(L1CAM):c.1219C>T (p.Arg407Cys)
|
rs782756293
|
0.00002
|
NM_001278116.2(L1CAM):c.1413C>T (p.Asp471=)
|
rs570097458
|
0.00002
|
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp)
|
rs1298830102
|
0.00002
|
NM_001278116.2(L1CAM):c.1481G>A (p.Arg494His)
|
rs782038855
|
0.00002
|
NM_001278116.2(L1CAM):c.1704-4G>A
|
rs1403032493
|
0.00002
|
NM_001278116.2(L1CAM):c.1894C>T (p.Arg632Cys)
|
rs782367123
|
0.00002
|
NM_001278116.2(L1CAM):c.2057C>A (p.Thr686Asn)
|
rs201371159
|
0.00002
|
NM_001278116.2(L1CAM):c.2565G>T (p.Glu855Asp)
|
rs1486944844
|
0.00002
|
NM_001278116.2(L1CAM):c.3290G>A (p.Arg1097Gln)
|
rs374569140
|
0.00002
|
NM_001278116.2(L1CAM):c.400+10G>A
|
rs368970579
|
0.00002
|
NM_001278116.2(L1CAM):c.401-16C>T
|
rs782088649
|
0.00002
|
NM_001278116.2(L1CAM):c.401-7C>G
|
rs1424993007
|
0.00002
|
NM_001278116.2(L1CAM):c.870C>T (p.Tyr290=)
|
rs782720258
|
0.00002
|
NM_001385875.1(ZFYVE27):c.1172-20A>G
|
rs777028977
|
0.00002
|
NM_001478.5(B4GALNT1):c.1311C>T (p.Asn437=)
|
rs749032499
|
0.00002
|
NM_001478.5(B4GALNT1):c.816G>A (p.Gln272=)
|
rs757759713
|
0.00002
|
NM_001478.5(B4GALNT1):c.822C>T (p.Asn274=)
|
rs1280525313
|
0.00002
|
NM_002156.5(HSPD1):c.1272C>T (p.Ala424=)
|
rs1402469498
|
0.00002
|
NM_002156.5(HSPD1):c.195G>A (p.Glu65=)
|
rs774204945
|
0.00002
|
NM_002156.5(HSPD1):c.420C>T (p.Ile140=)
|
rs773769774
|
0.00002
|
NM_002156.5(HSPD1):c.519G>A (p.Thr173=)
|
rs764674576
|
0.00002
|
NM_002156.5(HSPD1):c.750A>G (p.Lys250=)
|
rs780546992
|
0.00002
|
NM_004187.5(KDM5C):c.1584-16T>A
|
rs782194913
|
0.00002
|
NM_004187.5(KDM5C):c.2178C>T (p.Asp726=)
|
rs375715339
|
0.00002
|
NM_004187.5(KDM5C):c.2337G>A (p.Val779=)
|
rs1486904196
|
0.00002
|
NM_004187.5(KDM5C):c.2483G>A (p.Arg828Gln)
|
rs782645850
|
0.00002
|
NM_004187.5(KDM5C):c.2502C>T (p.Ser834=)
|
rs1225989550
|
0.00002
|
NM_004187.5(KDM5C):c.3956C>A (p.Pro1319His)
|
rs782709978
|
0.00002
|
NM_004187.5(KDM5C):c.861G>A (p.Ser287=)
|
rs61751238
|
0.00002
|
NM_004733.4(SLC33A1):c.1149-4A>G
|
rs773106675
|
0.00002
|
NM_004733.4(SLC33A1):c.1287T>C (p.Tyr429=)
|
rs747300088
|
0.00002
|
NM_004733.4(SLC33A1):c.972T>C (p.Phe324=)
|
rs139561128
|
0.00002
|
NM_004820.5(CYP7B1):c.1146C>T (p.Thr382=)
|
rs372814474
|
0.00002
|
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=)
|
rs1471365409
|
0.00002
|
NM_004820.5(CYP7B1):c.135G>A (p.Glu45=)
|
rs753231826
|
0.00002
|
NM_004820.5(CYP7B1):c.987A>G (p.Thr329=)
|
rs768442659
|
0.00002
|
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met)
|
rs774586838
|
0.00002
|
NM_004984.4(KIF5A):c.1164C>A (p.Ala388=)
|
rs745882021
|
0.00002
|
NM_004984.4(KIF5A):c.1200T>C (p.Asn400=)
|
rs748756540
|
0.00002
|
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys)
|
rs767181570
|
0.00002
|
NM_004984.4(KIF5A):c.1227C>T (p.Ile409=)
|
rs775172912
|
0.00002
|
NM_004984.4(KIF5A):c.1287C>T (p.Asp429=)
|
rs760382029
|
0.00002
|
NM_004984.4(KIF5A):c.1293+15G>A
|
rs200594693
|
0.00002
|
NM_004984.4(KIF5A):c.1329G>A (p.Glu443=)
|
rs1432671074
|
0.00002
|
NM_004984.4(KIF5A):c.1651C>G (p.Leu551Val)
|
rs147493358
|
0.00002
|
NM_004984.4(KIF5A):c.1869G>A (p.Gly623=)
|
rs781063689
|
0.00002
|
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp)
|
rs748248329
|
0.00002
|
NM_004984.4(KIF5A):c.1995C>T (p.Ser665=)
|
rs368783789
|
0.00002
|
NM_004984.4(KIF5A):c.1996G>A (p.Asp666Asn)
|
rs1398974670
|
0.00002
|
NM_004984.4(KIF5A):c.2120G>A (p.Arg707Gln)
|
rs1360689553
|
0.00002
|
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp)
|
rs779614400
|
0.00002
|
NM_004984.4(KIF5A):c.2198+19G>A
|
rs932182752
|
0.00002
|
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys)
|
rs387907286
|
0.00002
|
NM_004984.4(KIF5A):c.2310C>T (p.Tyr770=)
|
rs919085412
|
0.00002
|
NM_004984.4(KIF5A):c.2433+16G>C
|
rs770467123
|
0.00002
|
NM_004984.4(KIF5A):c.2538+8T>G
|
rs377005699
|
0.00002
|
NM_004984.4(KIF5A):c.2553T>C (p.Asn851=)
|
rs370062689
|
0.00002
|
NM_004984.4(KIF5A):c.2557G>A (p.Asp853Asn)
|
rs780457980
|
0.00002
|
NM_004984.4(KIF5A):c.2655C>T (p.Gly885=)
|
rs1007236664
|
0.00002
|
NM_004984.4(KIF5A):c.2727G>A (p.Ser909=)
|
rs756801243
|
0.00002
|
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr)
|
rs746095110
|
0.00002
|
NM_004984.4(KIF5A):c.510T>G (p.Thr170=)
|
rs369289917
|
0.00002
|
NM_004984.4(KIF5A):c.567A>G (p.Ser189=)
|
rs761592339
|
0.00002
|
NM_004984.4(KIF5A):c.876C>T (p.Leu292=)
|
rs560367645
|
0.00002
|
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=)
|
rs755457098
|
0.00002
|
NM_006517.5(SLC16A2):c.528G>A (p.Ala176=)
|
rs752683380
|
0.00002
|
NM_006517.5(SLC16A2):c.603C>T (p.Tyr201=)
|
rs771619069
|
0.00002
|
NM_007175.8(ERLIN2):c.425-8T>C
|
rs966254756
|
0.00002
|
NM_007175.8(ERLIN2):c.687C>T (p.Tyr229=)
|
rs528363730
|
0.00002
|
NM_007347.5(AP4E1):c.1067-12C>T
|
rs374764213
|
0.00002
|
NM_007347.5(AP4E1):c.1290C>T (p.Val430=)
|
rs767875770
|
0.00002
|
NM_007347.5(AP4E1):c.2175T>C (p.Asp725=)
|
rs765775777
|
0.00002
|
NM_007347.5(AP4E1):c.2193T>C (p.Pro731=)
|
rs201935060
|
0.00002
|
NM_007347.5(AP4E1):c.2712A>T (p.Ser904=)
|
rs183009636
|
0.00002
|
NM_007347.5(AP4E1):c.2844T>C (p.Asn948=)
|
rs781529748
|
0.00002
|
NM_007347.5(AP4E1):c.3123T>C (p.Phe1041=)
|
rs778926865
|
0.00002
|
NM_007347.5(AP4E1):c.944-14G>T
|
rs1361257196
|
0.00002
|
NM_014231.5(VAMP1):c.3-6C>T
|
rs749846681
|
0.00002
|
NM_014363.6(SACS):c.1032G>A (p.Glu344=)
|
rs199890147
|
0.00002
|
NM_014363.6(SACS):c.10485G>A (p.Glu3495=)
|
rs757255802
|
0.00002
|
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)
|
rs747013127
|
0.00002
|
NM_014363.6(SACS):c.10659T>C (p.Pro3553=)
|
rs1161865880
|
0.00002
|
NM_014363.6(SACS):c.10824T>C (p.Ser3608=)
|
rs565066396
|
0.00002
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
0.00002
|
NM_014363.6(SACS):c.11264T>C (p.Ile3755Thr)
|
rs781590547
|
0.00002
|
NM_014363.6(SACS):c.11484A>G (p.Leu3828=)
|
rs747807250
|
0.00002
|
NM_014363.6(SACS):c.11664A>G (p.Leu3888=)
|
rs752876736
|
0.00002
|
NM_014363.6(SACS):c.11775C>T (p.Asp3925=)
|
rs779948707
|
0.00002
|
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn)
|
rs756252903
|
0.00002
|
NM_014363.6(SACS):c.12282A>G (p.Lys4094=)
|
rs1405259528
|
0.00002
|
NM_014363.6(SACS):c.12G>A (p.Lys4=)
|
rs773980923
|
0.00002
|
NM_014363.6(SACS):c.13152A>G (p.Ala4384=)
|
rs745989305
|
0.00002
|
NM_014363.6(SACS):c.13195A>G (p.Thr4399Ala)
|
rs764686360
|
0.00002
|
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)
|
rs375722463
|
0.00002
|
NM_014363.6(SACS):c.1470C>A (p.Ala490=)
|
rs778987108
|
0.00002
|
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile)
|
rs748972179
|
0.00002
|
NM_014363.6(SACS):c.1608G>A (p.Pro536=)
|
rs745730439
|
0.00002
|
NM_014363.6(SACS):c.1620A>G (p.Lys540=)
|
rs758634289
|
0.00002
|
NM_014363.6(SACS):c.1731C>G (p.Phe577Leu)
|
rs757746157
|
0.00002
|
NM_014363.6(SACS):c.1878G>T (p.Val626=)
|
rs374010041
|
0.00002
|
NM_014363.6(SACS):c.2037C>T (p.Phe679=)
|
rs748609446
|
0.00002
|
NM_014363.6(SACS):c.2361T>C (p.Tyr787=)
|
rs775295825
|
0.00002
|
NM_014363.6(SACS):c.2403A>G (p.Pro801=)
|
rs758503842
|
0.00002
|
NM_014363.6(SACS):c.2472G>A (p.Ser824=)
|
rs554395185
|
0.00002
|
NM_014363.6(SACS):c.2586G>A (p.Pro862=)
|
rs146383946
|
0.00002
|
NM_014363.6(SACS):c.2669A>G (p.Asn890Ser)
|
rs376902764
|
0.00002
|
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)
|
rs760556327
|
0.00002
|
NM_014363.6(SACS):c.2733C>T (p.Thr911=)
|
rs199702597
|
0.00002
|
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr)
|
rs190383030
|
0.00002
|
NM_014363.6(SACS):c.348A>G (p.Glu116=)
|
rs201206270
|
0.00002
|
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser)
|
rs200831217
|
0.00002
|
NM_014363.6(SACS):c.3552A>C (p.Pro1184=)
|
rs779784021
|
0.00002
|
NM_014363.6(SACS):c.414C>T (p.Tyr138=)
|
rs199474695
|
0.00002
|
NM_014363.6(SACS):c.4599A>C (p.Ser1533=)
|
rs1329953828
|
0.00002
|
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)
|
rs770007806
|
0.00002
|
NM_014363.6(SACS):c.4878C>T (p.Gly1626=)
|
rs778664565
|
0.00002
|
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg)
|
rs148824690
|
0.00002
|
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn)
|
rs763496360
|
0.00002
|
NM_014363.6(SACS):c.5415A>G (p.Ser1805=)
|
rs777239936
|
0.00002
|
NM_014363.6(SACS):c.5433A>G (p.Lys1811=)
|
rs1162334138
|
0.00002
|
NM_014363.6(SACS):c.5466T>C (p.Thr1822=)
|
rs757576348
|
0.00002
|
NM_014363.6(SACS):c.5526A>G (p.Gly1842=)
|
rs141827449
|
0.00002
|
NM_014363.6(SACS):c.5613T>C (p.Phe1871=)
|
rs755450922
|
0.00002
|
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)
|
rs772866081
|
0.00002
|
NM_014363.6(SACS):c.5906A>G (p.His1969Arg)
|
rs776693219
|
0.00002
|
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)
|
rs747566710
|
0.00002
|
NM_014363.6(SACS):c.6201A>G (p.Glu2067=)
|
rs781124615
|
0.00002
|
NM_014363.6(SACS):c.6222T>C (p.Asp2074=)
|
rs751390197
|
0.00002
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
NM_014363.6(SACS):c.6348C>T (p.Pro2116=)
|
rs375619621
|
0.00002
|
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr)
|
rs754906806
|
0.00002
|
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu)
|
rs779973547
|
0.00002
|
NM_014363.6(SACS):c.7275A>G (p.Arg2425=)
|
rs761313165
|
0.00002
|
NM_014363.6(SACS):c.7281A>C (p.Ile2427=)
|
rs772383957
|
0.00002
|
NM_014363.6(SACS):c.7347C>A (p.Gly2449=)
|
rs531087357
|
0.00002
|
NM_014363.6(SACS):c.7354T>C (p.Leu2452=)
|
rs761258047
|
0.00002
|
NM_014363.6(SACS):c.7365T>C (p.Asp2455=)
|
rs773649898
|
0.00002
|
NM_014363.6(SACS):c.7395G>A (p.Ser2465=)
|
rs748990212
|
0.00002
|
NM_014363.6(SACS):c.7466C>A (p.Pro2489His)
|
rs766553685
|
0.00002
|
NM_014363.6(SACS):c.7758A>G (p.Pro2586=)
|
rs753034117
|
0.00002
|
NM_014363.6(SACS):c.8820A>G (p.Thr2940=)
|
rs370133588
|
0.00002
|
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser)
|
rs200106708
|
0.00002
|
NM_014363.6(SACS):c.8958C>T (p.His2986=)
|
rs758029668
|
0.00002
|
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys)
|
rs759112797
|
0.00002
|
NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys)
|
rs761690372
|
0.00002
|
NM_014363.6(SACS):c.927T>C (p.Phe309=)
|
rs1031190624
|
0.00002
|
NM_014363.6(SACS):c.9525A>G (p.Thr3175=)
|
rs369043814
|
0.00002
|
NM_014363.6(SACS):c.9531T>C (p.Tyr3177=)
|
rs746902834
|
0.00002
|
NM_014363.6(SACS):c.9654A>G (p.Leu3218=)
|
rs754783325
|
0.00002
|
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn)
|
rs754144089
|
0.00002
|
NM_014363.6(SACS):c.9927T>C (p.Ile3309=)
|
rs773836774
|
0.00002
|
NM_015346.4(ZFYVE26):c.1297T>C (p.Leu433=)
|
rs746330507
|
0.00002
|
NM_015346.4(ZFYVE26):c.1872A>G (p.Ala624=)
|
rs765814690
|
0.00002
|
NM_015346.4(ZFYVE26):c.2013T>C (p.Phe671=)
|
rs764693988
|
0.00002
|
NM_015346.4(ZFYVE26):c.2529C>T (p.Arg843=)
|
rs537194634
|
0.00002
|
NM_015346.4(ZFYVE26):c.3783C>T (p.Ala1261=)
|
rs756442639
|
0.00002
|
NM_015346.4(ZFYVE26):c.393A>C (p.Ala131=)
|
rs763513526
|
0.00002
|
NM_015346.4(ZFYVE26):c.402C>T (p.His134=)
|
rs1230979047
|
0.00002
|
NM_015346.4(ZFYVE26):c.4245G>A (p.Glu1415=)
|
rs764073156
|
0.00002
|
NM_015346.4(ZFYVE26):c.4305G>A (p.Val1435=)
|
rs756076114
|
0.00002
|
NM_015346.4(ZFYVE26):c.4503G>A (p.Thr1501=)
|
rs1265607406
|
0.00002
|
NM_015346.4(ZFYVE26):c.5103C>T (p.Leu1701=)
|
rs146148247
|
0.00002
|
NM_015346.4(ZFYVE26):c.5222-12C>G
|
rs764707646
|
0.00002
|
NM_015346.4(ZFYVE26):c.5301C>T (p.Phe1767=)
|
rs765887099
|
0.00002
|
NM_015346.4(ZFYVE26):c.5622-11T>C
|
rs772119610
|
0.00002
|
NM_015346.4(ZFYVE26):c.5653+19C>T
|
rs1379979760
|
0.00002
|
NM_015346.4(ZFYVE26):c.577C>T (p.Leu193=)
|
rs781310266
|
0.00002
|
NM_015346.4(ZFYVE26):c.5829G>T (p.Leu1943=)
|
rs1306037276
|
0.00002
|
NM_015346.4(ZFYVE26):c.5916C>T (p.Ala1972=)
|
rs369820290
|
0.00002
|
NM_015346.4(ZFYVE26):c.6011+7G>A
|
rs149860093
|
0.00002
|
NM_015346.4(ZFYVE26):c.6153C>T (p.Gly2051=)
|
rs752653466
|
0.00002
|
NM_015346.4(ZFYVE26):c.6705A>G (p.Gly2235=)
|
rs1394732167
|
0.00002
|
NM_015346.4(ZFYVE26):c.678T>C (p.Arg226=)
|
rs762577403
|
0.00002
|
NM_015346.4(ZFYVE26):c.6801C>T (p.Ala2267=)
|
rs1297257762
|
0.00002
|
NM_015346.4(ZFYVE26):c.6900G>A (p.Lys2300=)
|
rs760161618
|
0.00002
|
NM_015346.4(ZFYVE26):c.6987-4A>C
|
rs1373701230
|
0.00002
|
NM_015346.4(ZFYVE26):c.7029C>T (p.Phe2343=)
|
rs764682896
|
0.00002
|
NM_015346.4(ZFYVE26):c.7189-10T>C
|
rs781738414
|
0.00002
|
NM_015346.4(ZFYVE26):c.727C>T (p.Leu243=)
|
rs181571
|
0.00002
|
NM_015346.4(ZFYVE26):c.7372-4A>G
|
rs369143197
|
0.00002
|
NM_015346.4(ZFYVE26):c.7416+7G>A
|
rs766966144
|
0.00002
|
NM_015346.4(ZFYVE26):c.813G>T (p.Leu271=)
|
rs200977120
|
0.00002
|
NM_015346.4(ZFYVE26):c.915G>C (p.Arg305=)
|
rs781097861
|
0.00002
|
NM_020435.4(GJC2):c.1158A>G (p.Arg386=)
|
rs763695821
|
0.00002
|
NM_020435.4(GJC2):c.216G>T (p.Ala72=)
|
rs747886769
|
0.00002
|
NM_020944.3(GBA2):c.1038G>A (p.Thr346=)
|
rs760958007
|
0.00002
|
NM_020944.3(GBA2):c.1269C>T (p.Gly423=)
|
rs779132151
|
0.00002
|
NM_024306.5(FA2H):c.786+9G>A
|
rs752131780
|
0.00002
|
NM_024306.5(FA2H):c.90G>A (p.Gly30=)
|
rs1301123071
|
0.00002
|
NM_183075.3(CYP2U1):c.1288+11G>T
|
rs770399433
|
0.00002
|
NM_183075.3(CYP2U1):c.387C>T (p.Val129=)
|
rs577594501
|
0.00002
|
NM_183075.3(CYP2U1):c.636G>A (p.Lys212=)
|
rs748925272
|
0.00002
|
NM_001012301.4(ARSI):c.1644C>T (p.Cys548=)
|
rs368767786
|
0.00001
|
NM_001128126.3(AP4S1):c.139-20T>C
|
rs1479458784
|
0.00001
|
NM_001128126.3(AP4S1):c.180G>A (p.Arg60=)
|
rs1252944335
|
0.00001
|
NM_001128126.3(AP4S1):c.210A>T (p.Gly70=)
|
rs765484259
|
0.00001
|
NM_001128126.3(AP4S1):c.273A>G (p.Leu91=)
|
rs1418794794
|
0.00001
|
NM_001128126.3(AP4S1):c.306+4229C>T
|
rs1301666938
|
0.00001
|
NM_001128126.3(AP4S1):c.306+4232G>A
|
rs745990829
|
0.00001
|
NM_001128126.3(AP4S1):c.306+4280C>T
|
rs748041792
|
0.00001
|
NM_001128126.3(AP4S1):c.306+48T>C
|
rs762925365
|
0.00001
|
NM_001128126.3(AP4S1):c.306+57T>C
|
rs771062557
|
0.00001
|
NM_001278116.2(L1CAM):c.1143G>A (p.Lys381=)
|
rs1185735801
|
0.00001
|
NM_001278116.2(L1CAM):c.1161C>T (p.Gly387=)
|
rs781909228
|
0.00001
|
NM_001278116.2(L1CAM):c.1162G>A (p.Ala388Thr)
|
rs782570664
|
0.00001
|
NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met)
|
rs371999853
|
0.00001
|
NM_001278116.2(L1CAM):c.1353C>T (p.Phe451=)
|
rs1266106551
|
0.00001
|
NM_001278116.2(L1CAM):c.1389G>A (p.Glu463=)
|
rs1161832974
|
0.00001
|
NM_001278116.2(L1CAM):c.1444C>T (p.Leu482=)
|
rs782800846
|
0.00001
|
NM_001278116.2(L1CAM):c.1841C>T (p.Pro614Leu)
|
rs1557091552
|
0.00001
|
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met)
|
rs398123360
|
0.00001
|
NM_001278116.2(L1CAM):c.1899G>C (p.Val633=)
|
rs781794652
|
0.00001
|
NM_001278116.2(L1CAM):c.2243T>C (p.Val748Ala)
|
rs782331627
|
0.00001
|
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=)
|
rs201886318
|
0.00001
|
NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg)
|
rs782097679
|
0.00001
|
NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys)
|
rs199822230
|
0.00001
|
NM_001278116.2(L1CAM):c.3047-20G>A
|
rs367891075
|
0.00001
|
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)
|
rs1557090130
|
0.00001
|
NM_001278116.2(L1CAM):c.3323-8A>C
|
rs1557089873
|
0.00001
|
NM_001278116.2(L1CAM):c.3375C>T (p.Gly1125=)
|
rs1248790030
|
0.00001
|
NM_001278116.2(L1CAM):c.3457+15C>T
|
rs1557089768
|
0.00001
|
NM_001278116.2(L1CAM):c.3531-12G>C
|
rs111247323
|
0.00001
|
NM_001278116.2(L1CAM):c.3543-11T>C
|
rs782225211
|
0.00001
|
NM_001278116.2(L1CAM):c.3711G>A (p.Ala1237=)
|
rs782576787
|
0.00001
|
NM_001278116.2(L1CAM):c.3774G>A (p.Ter1258=)
|
rs782235888
|
0.00001
|
NM_001278116.2(L1CAM):c.524-7C>T
|
rs1557092918
|
0.00001
|
NM_001278116.2(L1CAM):c.651G>A (p.Arg217=)
|
rs781814457
|
0.00001
|
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=)
|
rs782615469
|
0.00001
|
NM_001278116.2(L1CAM):c.721C>T (p.Arg241Cys)
|
rs201642622
|
0.00001
|
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=)
|
rs200813995
|
0.00001
|
NM_001385875.1(ZFYVE27):c.1074A>G (p.Ser358=)
|
rs199770845
|
0.00001
|
NM_001385875.1(ZFYVE27):c.157C>T (p.Pro53Ser)
|
rs748660256
|
0.00001
|
NM_001385875.1(ZFYVE27):c.552-13C>A
|
rs200091871
|
0.00001
|
NM_001385875.1(ZFYVE27):c.639T>C (p.Phe213=)
|
rs897824220
|
0.00001
|
NM_001385875.1(ZFYVE27):c.816G>A (p.Pro272=)
|
rs561011837
|
0.00001
|
NM_001478.5(B4GALNT1):c.1002+18T>C
|
rs371275752
|
0.00001
|
NM_001478.5(B4GALNT1):c.1077C>T (p.Phe359=)
|
rs541794502
|
0.00001
|
NM_001478.5(B4GALNT1):c.1095G>A (p.Thr365=)
|
rs749350620
|
0.00001
|
NM_001478.5(B4GALNT1):c.1384+14C>G
|
rs775732698
|
0.00001
|
NM_001478.5(B4GALNT1):c.603G>A (p.Glu201=)
|
rs1479807348
|
0.00001
|
NM_001478.5(B4GALNT1):c.811+9G>C
|
rs1467099290
|
0.00001
|
NM_002156.5(HSPD1):c.1413A>G (p.Thr471=)
|
rs1292537183
|
0.00001
|
NM_002156.5(HSPD1):c.1464T>C (p.Ser488=)
|
rs1057524367
|
0.00001
|
NM_002156.5(HSPD1):c.318T>C (p.Asn106=)
|
rs755970968
|
0.00001
|
NM_002156.5(HSPD1):c.427+13G>C
|
rs377025571
|
0.00001
|
NM_002156.5(HSPD1):c.428-11C>T
|
rs780386445
|
0.00001
|
NM_002156.5(HSPD1):c.701-13A>G
|
rs746515365
|
0.00001
|
NM_002156.5(HSPD1):c.729T>C (p.Tyr243=)
|
rs755577488
|
0.00001
|
NM_002156.5(HSPD1):c.869+12T>C
|
rs781462822
|
0.00001
|
NM_002156.5(HSPD1):c.939T>C (p.Leu313=)
|
rs1559301094
|
0.00001
|
NM_002156.5(HSPD1):c.970-6T>C
|
rs749499239
|
0.00001
|
NM_004187.5(KDM5C):c.1146C>T (p.Ala382=)
|
rs782060574
|
0.00001
|
NM_004187.5(KDM5C):c.1809C>T (p.Ser603=)
|
rs782540092
|
0.00001
|
NM_004187.5(KDM5C):c.2038C>T (p.Leu680=)
|
rs948155012
|
0.00001
|
NM_004187.5(KDM5C):c.2167G>A (p.Asp723Asn)
|
rs781895754
|
0.00001
|
NM_004187.5(KDM5C):c.2243+17C>G
|
rs781946857
|
0.00001
|
NM_004187.5(KDM5C):c.2721G>A (p.Arg907=)
|
rs1391748530
|
0.00001
|
NM_004187.5(KDM5C):c.3020G>A (p.Arg1007His)
|
rs1556836492
|
0.00001
|
NM_004187.5(KDM5C):c.3027G>A (p.Ala1009=)
|
rs782659319
|
0.00001
|
NM_004187.5(KDM5C):c.3735A>G (p.Pro1245=)
|
rs1250315806
|
0.00001
|
NM_004187.5(KDM5C):c.3940C>T (p.Arg1314Trp)
|
rs370060257
|
0.00001
|
NM_004187.5(KDM5C):c.3941G>A (p.Arg1314Gln)
|
rs782652144
|
0.00001
|
NM_004187.5(KDM5C):c.459A>G (p.Leu153=)
|
rs1191613720
|
0.00001
|
NM_004187.5(KDM5C):c.860C>T (p.Ser287Leu)
|
rs1428740468
|
0.00001
|
NM_004187.5(KDM5C):c.954T>C (p.Asn318=)
|
rs1295162623
|
0.00001
|
NM_004733.4(SLC33A1):c.1148+7A>G
|
rs773852747
|
0.00001
|
NM_004733.4(SLC33A1):c.537C>T (p.Leu179=)
|
rs751374068
|
0.00001
|
NM_004733.4(SLC33A1):c.813A>G (p.Thr271=)
|
rs1201903329
|
0.00001
|
NM_004820.5(CYP7B1):c.122+16G>T
|
rs895937485
|
0.00001
|
NM_004820.5(CYP7B1):c.123-20C>G
|
rs745311868
|
0.00001
|
NM_004820.5(CYP7B1):c.1233+15A>G
|
rs762835395
|
0.00001
|
NM_004820.5(CYP7B1):c.1383A>G (p.Gln461=)
|
rs1353604083
|
0.00001
|
NM_004820.5(CYP7B1):c.1461G>A (p.Leu487=)
|
rs1213447459
|
0.00001
|
NM_004820.5(CYP7B1):c.177C>A (p.Val59=)
|
rs763202430
|
0.00001
|
NM_004820.5(CYP7B1):c.240T>A (p.Thr80=)
|
rs1206584060
|
0.00001
|
NM_004820.5(CYP7B1):c.259+16A>G
|
rs766418661
|
0.00001
|
NM_004820.5(CYP7B1):c.339A>G (p.Val113=)
|
rs770923196
|
0.00001
|
NM_004820.5(CYP7B1):c.501C>T (p.Pro167=)
|
rs937072125
|
0.00001
|
NM_004820.5(CYP7B1):c.51G>A (p.Leu17=)
|
rs929284330
|
0.00001
|
NM_004820.5(CYP7B1):c.684C>T (p.Ser228=)
|
rs757172134
|
0.00001
|
NM_004820.5(CYP7B1):c.850+19G>A
|
rs1264078929
|
0.00001
|
NM_004820.5(CYP7B1):c.978G>T (p.Leu326=)
|
rs917696140
|
0.00001
|
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=)
|
rs746555297
|
0.00001
|
NM_004984.4(KIF5A):c.1077G>A (p.Thr359=)
|
rs552427920
|
0.00001
|
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)
|
rs121434444
|
0.00001
|
NM_004984.4(KIF5A):c.1117+13T>C
|
rs1882186079
|
0.00001
|
NM_004984.4(KIF5A):c.1197G>A (p.Val399=)
|
rs1297872839
|
0.00001
|
NM_004984.4(KIF5A):c.1218G>C (p.Val406=)
|
rs758977709
|
0.00001
|
NM_004984.4(KIF5A):c.1240C>T (p.Arg414Trp)
|
rs758500897
|
0.00001
|
NM_004984.4(KIF5A):c.1241G>A (p.Arg414Gln)
|
rs1170006745
|
0.00001
|
NM_004984.4(KIF5A):c.1268G>A (p.Arg423His)
|
rs778095192
|
0.00001
|
NM_004984.4(KIF5A):c.129+10G>A
|
rs1881532622
|
0.00001
|
NM_004984.4(KIF5A):c.129+20G>A
|
rs763226331
|
0.00001
|
NM_004984.4(KIF5A):c.1293+8C>T
|
rs776493530
|
0.00001
|
NM_004984.4(KIF5A):c.1294-7C>T
|
rs200535153
|
0.00001
|
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=)
|
rs770297402
|
0.00001
|
NM_004984.4(KIF5A):c.1362+19G>A
|
rs1420700116
|
0.00001
|
NM_004984.4(KIF5A):c.1386C>T (p.Asp462=)
|
rs1269741883
|
0.00001
|
NM_004984.4(KIF5A):c.1403G>A (p.Arg468Gln)
|
rs774379377
|
0.00001
|
NM_004984.4(KIF5A):c.1407G>T (p.Glu469Asp)
|
rs376249839
|
0.00001
|
NM_004984.4(KIF5A):c.1431C>T (p.Asn477=)
|
rs775627499
|
0.00001
|
NM_004984.4(KIF5A):c.1458A>G (p.Glu486=)
|
rs765567239
|
0.00001
|
NM_004984.4(KIF5A):c.1476G>A (p.Glu492=)
|
rs1227040638
|
0.00001
|
NM_004984.4(KIF5A):c.1503G>A (p.Lys501=)
|
rs143117314
|
0.00001
|
NM_004984.4(KIF5A):c.1604G>A (p.Arg535Gln)
|
rs777398624
|
0.00001
|
NM_004984.4(KIF5A):c.1611G>A (p.Gln537=)
|
rs756959491
|
0.00001
|
NM_004984.4(KIF5A):c.1702G>A (p.Gly568Arg)
|
rs763336788
|
0.00001
|
NM_004984.4(KIF5A):c.1717-18C>T
|
rs1882379859
|
0.00001
|
NM_004984.4(KIF5A):c.180G>A (p.Glu60=)
|
rs200900180
|
0.00001
|
NM_004984.4(KIF5A):c.1890G>A (p.Gln630=)
|
rs1401764909
|
0.00001
|
NM_004984.4(KIF5A):c.1896C>T (p.Leu632=)
|
rs1161979577
|
0.00001
|
NM_004984.4(KIF5A):c.1948G>A (p.Val650Met)
|
rs374729476
|
0.00001
|
NM_004984.4(KIF5A):c.1986C>T (p.Asp662=)
|
rs987655555
|
0.00001
|
NM_004984.4(KIF5A):c.2004G>A (p.Leu668=)
|
rs778038642
|
0.00001
|
NM_004984.4(KIF5A):c.2024-8T>G
|
rs190187837
|
0.00001
|
NM_004984.4(KIF5A):c.2041G>A (p.Ala681Thr)
|
rs1212119444
|
0.00001
|
NM_004984.4(KIF5A):c.2112G>A (p.Glu704=)
|
rs918777253
|
0.00001
|
NM_004984.4(KIF5A):c.2124G>A (p.Glu708=)
|
rs1224244947
|
0.00001
|
NM_004984.4(KIF5A):c.2157C>T (p.Asp719=)
|
rs773330335
|
0.00001
|
NM_004984.4(KIF5A):c.217+7G>T
|
rs764640404
|
0.00001
|
NM_004984.4(KIF5A):c.217+8A>G
|
rs1305247048
|
0.00001
|
NM_004984.4(KIF5A):c.218-13C>T
|
rs773063708
|
0.00001
|
NM_004984.4(KIF5A):c.218-4C>A
|
rs749395504
|
0.00001
|
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr)
|
rs757751684
|
0.00001
|
NM_004984.4(KIF5A):c.2196A>G (p.Lys732=)
|
rs1462609432
|
0.00001
|
NM_004984.4(KIF5A):c.2198+15G>A
|
rs763862370
|
0.00001
|
NM_004984.4(KIF5A):c.2240C>A (p.Ala747Asp)
|
rs749023785
|
0.00001
|
NM_004984.4(KIF5A):c.2247C>T (p.Tyr749=)
|
rs770805531
|
0.00001
|
NM_004984.4(KIF5A):c.2271C>T (p.His757=)
|
rs374554951
|
0.00001
|
NM_004984.4(KIF5A):c.2290C>A (p.Gln764Lys)
|
rs749616160
|
0.00001
|
NM_004984.4(KIF5A):c.2300+7G>A
|
rs763362184
|
0.00001
|
NM_004984.4(KIF5A):c.2300+8G>A
|
rs566046023
|
0.00001
|
NM_004984.4(KIF5A):c.2301-11T>C
|
rs747055795
|
0.00001
|
NM_004984.4(KIF5A):c.2361+9T>C
|
rs756847817
|
0.00001
|
NM_004984.4(KIF5A):c.2433+9T>C
|
rs1326778311
|
0.00001
|
NM_004984.4(KIF5A):c.2434-15T>C
|
rs1233214204
|
0.00001
|
NM_004984.4(KIF5A):c.2451C>T (p.Pro817=)
|
rs976137208
|
0.00001
|
NM_004984.4(KIF5A):c.2538+7G>A
|
rs575641161
|
0.00001
|
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His)
|
rs765503816
|
0.00001
|
NM_004984.4(KIF5A):c.2571G>A (p.Glu857=)
|
rs747531341
|
0.00001
|
NM_004984.4(KIF5A):c.2756-12T>A
|
rs894629153
|
0.00001
|
NM_004984.4(KIF5A):c.2756-14T>C
|
rs746607425
|
0.00001
|
NM_004984.4(KIF5A):c.2763C>T (p.Pro921=)
|
rs769791770
|
0.00001
|
NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=)
|
rs781143696
|
0.00001
|
NM_004984.4(KIF5A):c.2897C>T (p.Thr966Ile)
|
rs149433823
|
0.00001
|
NM_004984.4(KIF5A):c.2909+14C>T
|
rs762210073
|
0.00001
|
NM_004984.4(KIF5A):c.2909+15G>A
|
rs376256320
|
0.00001
|
NM_004984.4(KIF5A):c.291+15T>C
|
rs764730335
|
0.00001
|
NM_004984.4(KIF5A):c.2992+15T>C
|
rs1594926730
|
0.00001
|
NM_004984.4(KIF5A):c.2993-6C>T
|
rs1057522322
|
0.00001
|
NM_004984.4(KIF5A):c.2994A>G (p.Gly998=)
|
rs750415265
|
0.00001
|
NM_004984.4(KIF5A):c.3020+9G>A
|
rs1297564196
|
0.00001
|
NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu)
|
rs751496558
|
0.00001
|
NM_004984.4(KIF5A):c.3062A>G (p.Lys1021Arg)
|
rs1186511989
|
0.00001
|
NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys)
|
rs756348570
|
0.00001
|
NM_004984.4(KIF5A):c.324C>A (p.Ile108=)
|
rs1408387685
|
0.00001
|
NM_004984.4(KIF5A):c.408T>C (p.Phe136=)
|
rs770202664
|
0.00001
|
NM_004984.4(KIF5A):c.445+7G>A
|
rs1594912944
|
0.00001
|
NM_004984.4(KIF5A):c.446-15A>T
|
rs1453048734
|
0.00001
|
NM_004984.4(KIF5A):c.446-20C>G
|
rs1387302349
|
0.00001
|
NM_004984.4(KIF5A):c.465C>T (p.Ser155=)
|
rs747071818
|
0.00001
|
NM_004984.4(KIF5A):c.501+17G>T
|
rs749874893
|
0.00001
|
NM_004984.4(KIF5A):c.522G>A (p.Val174=)
|
rs1443344036
|
0.00001
|
NM_004984.4(KIF5A):c.531G>A (p.Pro177=)
|
rs771476833
|
0.00001
|
NM_004984.4(KIF5A):c.652A>G (p.Met218Val)
|
rs769491011
|
0.00001
|
NM_004984.4(KIF5A):c.672C>T (p.Leu224=)
|
rs770896632
|
0.00001
|
NM_004984.4(KIF5A):c.819+11C>T
|
rs993330230
|
0.00001
|
NM_004984.4(KIF5A):c.820-4C>T
|
rs776585528
|
0.00001
|
NM_004984.4(KIF5A):c.828T>C (p.Tyr276=)
|
rs1485619677
|
0.00001
|
NM_004984.4(KIF5A):c.930T>C (p.Asn310=)
|
rs768004830
|
0.00001
|
NM_004984.4(KIF5A):c.93C>T (p.Ile31=)
|
rs923503057
|
0.00001
|
NM_004984.4(KIF5A):c.968+12G>C
|
rs536186088
|
0.00001
|
NM_004984.4(KIF5A):c.968+16C>G
|
rs1188551649
|
0.00001
|
NM_004984.4(KIF5A):c.969-17C>T
|
rs1010157708
|
0.00001
|
NM_004984.4(KIF5A):c.996A>G (p.Ser332=)
|
rs1320583318
|
0.00001
|
NM_005619.5(RTN2):c.1140C>T (p.Ala380=)
|
rs765432276
|
0.00001
|
NM_005619.5(RTN2):c.1305C>T (p.Ile435=)
|
rs757343656
|
0.00001
|
NM_005619.5(RTN2):c.1332G>A (p.Thr444=)
|
rs149504512
|
0.00001
|
NM_005619.5(RTN2):c.1451-7C>T
|
rs1418970218
|
0.00001
|
NM_005619.5(RTN2):c.1497+7G>T
|
rs372988926
|
0.00001
|
NM_005619.5(RTN2):c.1521G>A (p.Gly507=)
|
rs750450680
|
0.00001
|
NM_005619.5(RTN2):c.153C>T (p.Thr51=)
|
rs778128536
|
0.00001
|
NM_005619.5(RTN2):c.79+6T>A
|
rs749104931
|
0.00001
|
NM_006517.5(SLC16A2):c.1104C>A (p.Gly368=)
|
rs1024842255
|
0.00001
|
NM_006517.5(SLC16A2):c.117C>G (p.Pro39=)
|
rs764743736
|
0.00001
|
NM_006517.5(SLC16A2):c.1428C>T (p.Tyr476=)
|
rs1177530030
|
0.00001
|
NM_006517.5(SLC16A2):c.633C>T (p.Phe211=)
|
rs1288231777
|
0.00001
|
NM_007175.8(ERLIN2):c.1017T>C (p.Asn339=)
|
rs776398153
|
0.00001
|
NM_007175.8(ERLIN2):c.144T>C (p.Gly48=)
|
rs769021055
|
0.00001
|
NM_007175.8(ERLIN2):c.420G>A (p.Leu140=)
|
rs774116062
|
0.00001
|
NM_007175.8(ERLIN2):c.589G>A (p.Ala197Thr)
|
rs149254654
|
0.00001
|
NM_007175.8(ERLIN2):c.771G>A (p.Lys257=)
|
rs760169548
|
0.00001
|
NM_007175.8(ERLIN2):c.807C>T (p.Ala269=)
|
rs767299905
|
0.00001
|
NM_007347.5(AP4E1):c.1044T>C (p.Pro348=)
|
rs1021056660
|
0.00001
|
NM_007347.5(AP4E1):c.1067-9T>C
|
rs769024886
|
0.00001
|
NM_007347.5(AP4E1):c.1177-6A>T
|
rs1356173034
|
0.00001
|
NM_007347.5(AP4E1):c.138C>T (p.Leu46=)
|
rs762804786
|
0.00001
|
NM_007347.5(AP4E1):c.1429+18T>G
|
rs1156879860
|
0.00001
|
NM_007347.5(AP4E1):c.1431T>C (p.Gly477=)
|
rs1325876442
|
0.00001
|
NM_007347.5(AP4E1):c.1458A>G (p.Gln486=)
|
rs557252541
|
0.00001
|
NM_007347.5(AP4E1):c.151-11C>T
|
rs1384014717
|
0.00001
|
NM_007347.5(AP4E1):c.1938C>T (p.Arg646=)
|
rs760668736
|
0.00001
|
NM_007347.5(AP4E1):c.2445T>C (p.Cys815=)
|
rs953965291
|
0.00001
|
NM_007347.5(AP4E1):c.2907G>A (p.Val969=)
|
rs778511777
|
0.00001
|
NM_007347.5(AP4E1):c.3051T>C (p.Ala1017=)
|
rs1468608014
|
0.00001
|
NM_007347.5(AP4E1):c.3096-16T>A
|
rs781084384
|
0.00001
|
NM_007347.5(AP4E1):c.3253+19A>C
|
rs750506196
|
0.00001
|
NM_007347.5(AP4E1):c.3288A>G (p.Pro1096=)
|
rs764886183
|
0.00001
|
NM_007347.5(AP4E1):c.390A>G (p.Leu130=)
|
rs779851343
|
0.00001
|
NM_007347.5(AP4E1):c.420+9T>C
|
rs2063739492
|
0.00001
|
NM_007347.5(AP4E1):c.450G>T (p.Val150=)
|
rs770432473
|
0.00001
|
NM_007347.5(AP4E1):c.774G>A (p.Lys258=)
|
rs762149705
|
0.00001
|
NM_007347.5(AP4E1):c.822A>G (p.Gln274=)
|
rs991693986
|
0.00001
|
NM_007347.5(AP4E1):c.944-17T>C
|
rs746257118
|
0.00001
|
NM_007347.5(AP4E1):c.944-6T>A
|
rs775899244
|
0.00001
|
NM_014231.5(VAMP1):c.111C>T (p.Thr37=)
|
rs774269433
|
0.00001
|
NM_014231.5(VAMP1):c.186G>A (p.Leu62=)
|
rs985285542
|
0.00001
|
NM_014231.5(VAMP1):c.2+15G>A
|
rs1332418739
|
0.00001
|
NM_014231.5(VAMP1):c.2+8G>A
|
rs1429205170
|
0.00001
|
NM_014231.5(VAMP1):c.258A>G (p.Leu86=)
|
rs765459461
|
0.00001
|
NM_014231.5(VAMP1):c.288+16C>T
|
rs1336111436
|
0.00001
|
NM_014231.5(VAMP1):c.340+10G>A
|
rs746020440
|
0.00001
|
NM_014231.5(VAMP1):c.341-19T>G
|
rs1452355892
|
0.00001
|
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)
|
rs767435985
|
0.00001
|
NM_014363.6(SACS):c.1005G>A (p.Ser335=)
|
rs1260369962
|
0.00001
|
NM_014363.6(SACS):c.10179C>T (p.Cys3393=)
|
rs1032774472
|
0.00001
|
NM_014363.6(SACS):c.10191T>C (p.His3397=)
|
rs1289389815
|
0.00001
|
NM_014363.6(SACS):c.10212A>T (p.Ile3404=)
|
rs1883635469
|
0.00001
|
NM_014363.6(SACS):c.10254C>T (p.Gly3418=)
|
rs139268069
|
0.00001
|
NM_014363.6(SACS):c.10260T>C (p.Tyr3420=)
|
rs1370239378
|
0.00001
|
NM_014363.6(SACS):c.10284A>G (p.Thr3428=)
|
rs1447212627
|
0.00001
|
NM_014363.6(SACS):c.10290C>T (p.Tyr3430=)
|
rs367735607
|
0.00001
|
NM_014363.6(SACS):c.1038G>A (p.Pro346=)
|
rs771344425
|
0.00001
|
NM_014363.6(SACS):c.10470T>C (p.Tyr3490=)
|
rs755590920
|
0.00001
|
NM_014363.6(SACS):c.10479A>G (p.Lys3493=)
|
rs61754476
|
0.00001
|
NM_014363.6(SACS):c.10542G>A (p.Lys3514=)
|
rs773384950
|
0.00001
|
NM_014363.6(SACS):c.10617T>C (p.His3539=)
|
rs778799757
|
0.00001
|
NM_014363.6(SACS):c.10686C>T (p.Phe3562=)
|
rs762161380
|
0.00001
|
NM_014363.6(SACS):c.10728T>C (p.Val3576=)
|
rs1883602063
|
0.00001
|
NM_014363.6(SACS):c.10731A>G (p.Thr3577=)
|
rs759287298
|
0.00001
|
NM_014363.6(SACS):c.10755C>T (p.Phe3585=)
|
rs772041823
|
0.00001
|
NM_014363.6(SACS):c.1083A>G (p.Lys361=)
|
rs755779338
|
0.00001
|
NM_014363.6(SACS):c.10859C>T (p.Thr3620Ile)
|
rs543646763
|
0.00001
|
NM_014363.6(SACS):c.10881C>T (p.Ile3627=)
|
rs576435320
|
0.00001
|
NM_014363.6(SACS):c.10915T>C (p.Leu3639=)
|
rs755403408
|
0.00001
|
NM_014363.6(SACS):c.11037T>C (p.Leu3679=)
|
rs1883575247
|
0.00001
|
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)
|
rs748237614
|
0.00001
|
NM_014363.6(SACS):c.1119T>C (p.Tyr373=)
|
rs752597088
|
0.00001
|
NM_014363.6(SACS):c.11214T>C (p.Asn3738=)
|
rs776619164
|
0.00001
|
NM_014363.6(SACS):c.11221C>T (p.Leu3741=)
|
rs1190212363
|
0.00001
|
NM_014363.6(SACS):c.11337C>T (p.Phe3779=)
|
rs139689925
|
0.00001
|
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys)
|
rs886050075
|
0.00001
|
NM_014363.6(SACS):c.11416C>T (p.Leu3806=)
|
rs775539263
|
0.00001
|
NM_014363.6(SACS):c.11475G>A (p.Leu3825=)
|
rs773685284
|
0.00001
|
NM_014363.6(SACS):c.114C>T (p.Ile38=)
|
rs1261687825
|
0.00001
|
NM_014363.6(SACS):c.11532T>C (p.Thr3844=)
|
rs756128473
|
0.00001
|
NM_014363.6(SACS):c.11535A>G (p.Glu3845=)
|
rs750167647
|
0.00001
|
NM_014363.6(SACS):c.11565A>G (p.Glu3855=)
|
rs1422761558
|
0.00001
|
NM_014363.6(SACS):c.11604A>G (p.Gln3868=)
|
rs375025693
|
0.00001
|
NM_014363.6(SACS):c.1161A>T (p.Ala387=)
|
rs1870303680
|
0.00001
|
NM_014363.6(SACS):c.11697C>T (p.Leu3899=)
|
rs767957360
|
0.00001
|
NM_014363.6(SACS):c.11706A>G (p.Val3902=)
|
rs1317351655
|
0.00001
|
NM_014363.6(SACS):c.117C>T (p.Phe39=)
|
rs1274730877
|
0.00001
|
NM_014363.6(SACS):c.11802C>T (p.Ile3934=)
|
rs762451306
|
0.00001
|
NM_014363.6(SACS):c.11838C>T (p.Leu3946=)
|
rs764611013
|
0.00001
|
NM_014363.6(SACS):c.11841C>T (p.Ser3947=)
|
rs759055631
|
0.00001
|
NM_014363.6(SACS):c.11877T>G (p.Thr3959=)
|
rs1382495342
|
0.00001
|
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
|
rs375613914
|
0.00001
|
NM_014363.6(SACS):c.11910A>G (p.Arg3970=)
|
rs745932319
|
0.00001
|
NM_014363.6(SACS):c.11982G>A (p.Ala3994=)
|
rs780117352
|
0.00001
|
NM_014363.6(SACS):c.11983T>C (p.Leu3995=)
|
rs912497422
|
0.00001
|
NM_014363.6(SACS):c.11985G>A (p.Leu3995=)
|
rs1044929287
|
0.00001
|
NM_014363.6(SACS):c.12084G>A (p.Leu4028=)
|
rs1242833943
|
0.00001
|
NM_014363.6(SACS):c.12086C>G (p.Ala4029Gly)
|
rs200620627
|
0.00001
|
NM_014363.6(SACS):c.12090T>C (p.Asn4030=)
|
rs896467064
|
0.00001
|
NM_014363.6(SACS):c.1209C>T (p.Ile403=)
|
rs769400626
|
0.00001
|
NM_014363.6(SACS):c.12133T>C (p.Leu4045=)
|
rs545028704
|
0.00001
|
NM_014363.6(SACS):c.12195T>C (p.Ile4065=)
|
rs1286408517
|
0.00001
|
NM_014363.6(SACS):c.12285C>T (p.Asp4095=)
|
rs1315062956
|
0.00001
|
NM_014363.6(SACS):c.12294C>T (p.Phe4098=)
|
rs761749563
|
0.00001
|
NM_014363.6(SACS):c.12429T>C (p.Tyr4143=)
|
rs1193969994
|
0.00001
|
NM_014363.6(SACS):c.12474A>G (p.Thr4158=)
|
rs767116262
|
0.00001
|
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile)
|
rs764098635
|
0.00001
|
NM_014363.6(SACS):c.12525T>G (p.Val4175=)
|
rs758466161
|
0.00001
|
NM_014363.6(SACS):c.1254A>C (p.Pro418=)
|
rs750585737
|
0.00001
|
NM_014363.6(SACS):c.12581A>G (p.Tyr4194Cys)
|
rs1486450052
|
0.00001
|
NM_014363.6(SACS):c.12585A>G (p.Gly4195=)
|
rs200305087
|
0.00001
|
NM_014363.6(SACS):c.12603C>T (p.Tyr4201=)
|
rs770163213
|
0.00001
|
NM_014363.6(SACS):c.12606A>C (p.Thr4202=)
|
rs780674369
|
0.00001
|
NM_014363.6(SACS):c.1269C>T (p.Ala423=)
|
rs377620507
|
0.00001
|
NM_014363.6(SACS):c.12720T>C (p.Leu4240=)
|
rs747702706
|
0.00001
|
NM_014363.6(SACS):c.12747G>A (p.Glu4249=)
|
rs779907117
|
0.00001
|
NM_014363.6(SACS):c.12789C>G (p.Thr4263=)
|
rs1195826873
|
0.00001
|
NM_014363.6(SACS):c.12831T>G (p.Pro4277=)
|
rs1298221924
|
0.00001
|
NM_014363.6(SACS):c.12833C>T (p.Pro4278Leu)
|
rs574294199
|
0.00001
|
NM_014363.6(SACS):c.1284C>T (p.Ser428=)
|
rs941949767
|
0.00001
|
NM_014363.6(SACS):c.12858C>T (p.His4286=)
|
rs555927628
|
0.00001
|
NM_014363.6(SACS):c.12882C>T (p.Ser4294=)
|
rs769768838
|
0.00001
|
NM_014363.6(SACS):c.13119C>T (p.Asp4373=)
|
rs368124828
|
0.00001
|
NM_014363.6(SACS):c.13149A>G (p.Ser4383=)
|
rs770028802
|
0.00001
|
NM_014363.6(SACS):c.13218G>A (p.Thr4406=)
|
rs1229448994
|
0.00001
|
NM_014363.6(SACS):c.13263C>G (p.Pro4421=)
|
rs1452082694
|
0.00001
|
NM_014363.6(SACS):c.13269A>T (p.Ser4423=)
|
rs1180908312
|
0.00001
|
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg)
|
rs754693143
|
0.00001
|
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=)
|
rs753277514
|
0.00001
|
NM_014363.6(SACS):c.13419G>A (p.Val4473=)
|
rs751336327
|
0.00001
|
NM_014363.6(SACS):c.13476G>C (p.Val4492=)
|
rs370362235
|
0.00001
|
NM_014363.6(SACS):c.13506A>G (p.Pro4502=)
|
rs1593119067
|
0.00001
|
NM_014363.6(SACS):c.13509T>G (p.Thr4503=)
|
rs745361567
|
0.00001
|
NM_014363.6(SACS):c.13536T>C (p.Tyr4512=)
|
rs1593118995
|
0.00001
|
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn)
|
rs138328181
|
0.00001
|
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg)
|
rs750412600
|
0.00001
|
NM_014363.6(SACS):c.13692T>C (p.Thr4564=)
|
rs770600182
|
0.00001
|
NM_014363.6(SACS):c.13719T>C (p.Asn4573=)
|
rs1309405788
|
0.00001
|
NM_014363.6(SACS):c.1389C>T (p.His463=)
|
rs1870277384
|
0.00001
|
NM_014363.6(SACS):c.1485T>C (p.Phe495=)
|
rs779933721
|
0.00001
|
NM_014363.6(SACS):c.1566T>A (p.Ser522=)
|
rs1203606581
|
0.00001
|
NM_014363.6(SACS):c.1614G>A (p.Ala538=)
|
rs1405327643
|
0.00001
|
NM_014363.6(SACS):c.1683G>A (p.Val561=)
|
rs1485932032
|
0.00001
|
NM_014363.6(SACS):c.1714T>C (p.Leu572=)
|
rs145772567
|
0.00001
|
NM_014363.6(SACS):c.1716G>A (p.Leu572=)
|
rs780596882
|
0.00001
|
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)
|
rs750748828
|
0.00001
|
NM_014363.6(SACS):c.1752A>G (p.Leu584=)
|
rs368626712
|
0.00001
|
NM_014363.6(SACS):c.1755A>G (p.Glu585=)
|
rs1287240338
|
0.00001
|
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
|
rs200437752
|
0.00001
|
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)
|
rs368944813
|
0.00001
|
NM_014363.6(SACS):c.1971C>T (p.Asp657=)
|
rs1870208518
|
0.00001
|
NM_014363.6(SACS):c.1980C>T (p.Tyr660=)
|
rs991078992
|
0.00001
|
NM_014363.6(SACS):c.199C>T (p.Leu67=)
|
rs769143590
|
0.00001
|
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr)
|
rs374667929
|
0.00001
|
NM_014363.6(SACS):c.2031C>T (p.Val677=)
|
rs771431845
|
0.00001
|
NM_014363.6(SACS):c.2093+10C>T
|
rs751417820
|
0.00001
|
NM_014363.6(SACS):c.21-6C>A
|
rs767048737
|
0.00001
|
NM_014363.6(SACS):c.2139G>A (p.Leu713=)
|
rs749720485
|
0.00001
|
NM_014363.6(SACS):c.2148C>T (p.His716=)
|
rs780789330
|
0.00001
|
NM_014363.6(SACS):c.2170G>T (p.Ala724Ser)
|
rs752593308
|
0.00001
|
NM_014363.6(SACS):c.2181C>G (p.Thr727=)
|
rs767656737
|
0.00001
|
NM_014363.6(SACS):c.2193A>G (p.Pro731=)
|
rs1290283039
|
0.00001
|
NM_014363.6(SACS):c.2278T>C (p.Leu760=)
|
rs770454726
|
0.00001
|
NM_014363.6(SACS):c.2304T>C (p.Asp768=)
|
rs1869226731
|
0.00001
|
NM_014363.6(SACS):c.2379T>C (p.Asp793=)
|
rs1869218552
|
0.00001
|
NM_014363.6(SACS):c.2388A>G (p.Leu796=)
|
rs747213520
|
0.00001
|
NM_014363.6(SACS):c.2451C>T (p.Leu817=)
|
rs756595744
|
0.00001
|
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu)
|
rs762821420
|
0.00001
|
NM_014363.6(SACS):c.2488G>A (p.Asp830Asn)
|
rs571646732
|
0.00001
|
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser)
|
rs769153924
|
0.00001
|
NM_014363.6(SACS):c.2547G>C (p.Gly849=)
|
rs1479328506
|
0.00001
|
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
|
rs776290829
|
0.00001
|
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser)
|
rs370103461
|
0.00001
|
NM_014363.6(SACS):c.2682G>A (p.Ser894=)
|
rs369958174
|
0.00001
|
NM_014363.6(SACS):c.2702A>T (p.Asp901Val)
|
rs769056718
|
0.00001
|
NM_014363.6(SACS):c.2750A>T (p.Glu917Val)
|
rs201491052
|
0.00001
|
NM_014363.6(SACS):c.27C>G (p.Val9=)
|
rs912218064
|
0.00001
|
NM_014363.6(SACS):c.2830T>C (p.Leu944=)
|
rs1348417682
|
0.00001
|
NM_014363.6(SACS):c.2862C>T (p.Ala954=)
|
rs776780963
|
0.00001
|
NM_014363.6(SACS):c.2877T>C (p.Asp959=)
|
rs761263379
|
0.00001
|
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)
|
rs368149368
|
0.00001
|
NM_014363.6(SACS):c.3030A>G (p.Thr1010=)
|
rs1869138853
|
0.00001
|
NM_014363.6(SACS):c.3060A>G (p.Leu1020=)
|
rs746764976
|
0.00001
|
NM_014363.6(SACS):c.3096G>A (p.Glu1032=)
|
rs529746813
|
0.00001
|
NM_014363.6(SACS):c.3100T>C (p.Leu1034=)
|
rs1312893381
|
0.00001
|
NM_014363.6(SACS):c.3111A>G (p.Leu1037=)
|
rs1299826374
|
0.00001
|
NM_014363.6(SACS):c.3147A>T (p.Ser1049=)
|
rs1172279475
|
0.00001
|
NM_014363.6(SACS):c.316A>C (p.Arg106=)
|
rs1593155679
|
0.00001
|
NM_014363.6(SACS):c.3231T>C (p.Val1077=)
|
rs781272328
|
0.00001
|
NM_014363.6(SACS):c.3288C>T (p.Ala1096=)
|
rs966965221
|
0.00001
|
NM_014363.6(SACS):c.3300A>G (p.Glu1100=)
|
rs1487356590
|
0.00001
|
NM_014363.6(SACS):c.3343G>A (p.Val1115Ile)
|
rs771915442
|
0.00001
|
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser)
|
rs774044532
|
0.00001
|
NM_014363.6(SACS):c.3397C>T (p.Leu1133=)
|
rs1249661192
|
0.00001
|
NM_014363.6(SACS):c.339T>C (p.Ile113=)
|
rs890638661
|
0.00001
|
NM_014363.6(SACS):c.3402T>C (p.Val1134=)
|
rs1464284835
|
0.00001
|
NM_014363.6(SACS):c.3417C>T (p.His1139=)
|
rs758862765
|
0.00001
|
NM_014363.6(SACS):c.345+10A>G
|
rs764420228
|
0.00001
|
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)
|
rs1443000762
|
0.00001
|
NM_014363.6(SACS):c.3516C>A (p.Val1172=)
|
rs771148569
|
0.00001
|
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val)
|
rs373859681
|
0.00001
|
NM_014363.6(SACS):c.3546A>G (p.Ala1182=)
|
rs772247163
|
0.00001
|
NM_014363.6(SACS):c.3554A>G (p.Asp1185Gly)
|
rs755751713
|
0.00001
|
NM_014363.6(SACS):c.3618T>C (p.His1206=)
|
rs771089482
|
0.00001
|
NM_014363.6(SACS):c.3726T>C (p.Asp1242=)
|
rs750012725
|
0.00001
|
NM_014363.6(SACS):c.3741A>G (p.Gln1247=)
|
rs763977282
|
0.00001
|
NM_014363.6(SACS):c.3918T>C (p.Asn1306=)
|
rs774765353
|
0.00001
|
NM_014363.6(SACS):c.3951A>G (p.Leu1317=)
|
rs1276993951
|
0.00001
|
NM_014363.6(SACS):c.3969A>T (p.Ser1323=)
|
rs763191564
|
0.00001
|
NM_014363.6(SACS):c.4149T>C (p.His1383=)
|
rs749219225
|
0.00001
|
NM_014363.6(SACS):c.4200T>C (p.Tyr1400=)
|
rs972483882
|
0.00001
|
NM_014363.6(SACS):c.4296A>G (p.Glu1432=)
|
rs1454546564
|
0.00001
|
NM_014363.6(SACS):c.4401T>C (p.Ile1467=)
|
rs1868991227
|
0.00001
|
NM_014363.6(SACS):c.4452C>T (p.Asn1484=)
|
rs1371225425
|
0.00001
|
NM_014363.6(SACS):c.4491T>C (p.Ile1497=)
|
rs1056501976
|
0.00001
|
NM_014363.6(SACS):c.4527C>T (p.Leu1509=)
|
rs1394125839
|
0.00001
|
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala)
|
rs1230237404
|
0.00001
|
NM_014363.6(SACS):c.4611C>T (p.Asn1537=)
|
rs759173138
|
0.00001
|
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)
|
rs544249449
|
0.00001
|
NM_014363.6(SACS):c.4674T>G (p.Leu1558=)
|
rs781676575
|
0.00001
|
NM_014363.6(SACS):c.4692C>T (p.Tyr1564=)
|
rs1455651684
|
0.00001
|
NM_014363.6(SACS):c.4701T>C (p.Thr1567=)
|
rs777967700
|
0.00001
|
NM_014363.6(SACS):c.4749A>G (p.Pro1583=)
|
rs760512075
|
0.00001
|
NM_014363.6(SACS):c.47G>T (p.Gly16Val)
|
rs886050090
|
0.00001
|
NM_014363.6(SACS):c.4803A>G (p.Lys1601=)
|
rs567166548
|
0.00001
|
NM_014363.6(SACS):c.483C>T (p.Asn161=)
|
rs762321054
|
0.00001
|
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
|
rs771080306
|
0.00001
|
NM_014363.6(SACS):c.4857A>G (p.Lys1619=)
|
rs1183984626
|
0.00001
|
NM_014363.6(SACS):c.4887A>G (p.Leu1629=)
|
rs1419607062
|
0.00001
|
NM_014363.6(SACS):c.4899A>T (p.Val1633=)
|
rs146419598
|
0.00001
|
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)
|
rs774163551
|
0.00001
|
NM_014363.6(SACS):c.4929T>C (p.Leu1643=)
|
rs776977428
|
0.00001
|
NM_014363.6(SACS):c.492C>T (p.Phe164=)
|
rs745849958
|
0.00001
|
NM_014363.6(SACS):c.4938G>A (p.Leu1646=)
|
rs1316203129
|
0.00001
|
NM_014363.6(SACS):c.4944T>C (p.Phe1648=)
|
rs1274561101
|
0.00001
|
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)
|
rs1269546947
|
0.00001
|
NM_014363.6(SACS):c.5064G>A (p.Gln1688=)
|
rs760628805
|
0.00001
|
NM_014363.6(SACS):c.510C>T (p.His170=)
|
rs575556786
|
0.00001
|
NM_014363.6(SACS):c.5304C>T (p.His1768=)
|
rs373239775
|
0.00001
|
NM_014363.6(SACS):c.5322T>C (p.Ile1774=)
|
rs1034825215
|
0.00001
|
NM_014363.6(SACS):c.5337G>A (p.Ser1779=)
|
rs767529590
|
0.00001
|
NM_014363.6(SACS):c.5557C>T (p.Leu1853=)
|
rs1353300258
|
0.00001
|
NM_014363.6(SACS):c.5595A>C (p.Pro1865=)
|
rs777869317
|
0.00001
|
NM_014363.6(SACS):c.5610G>A (p.Val1870=)
|
rs765722028
|
0.00001
|
NM_014363.6(SACS):c.561C>T (p.Val187=)
|
rs758653462
|
0.00001
|
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00001
|
NM_014363.6(SACS):c.5733G>A (p.Thr1911=)
|
rs754333038
|
0.00001
|
NM_014363.6(SACS):c.573A>G (p.Gly191=)
|
rs750678759
|
0.00001
|
NM_014363.6(SACS):c.5835A>G (p.Val1945=)
|
rs1593129510
|
0.00001
|
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)
|
rs370902090
|
0.00001
|
NM_014363.6(SACS):c.5898T>C (p.Asp1966=)
|
rs762511209
|
0.00001
|
NM_014363.6(SACS):c.5910A>G (p.Gly1970=)
|
rs1236957952
|
0.00001
|
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg)
|
rs774492331
|
0.00001
|
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile)
|
rs373812430
|
0.00001
|
NM_014363.6(SACS):c.5970C>T (p.Asn1990=)
|
rs199573269
|
0.00001
|
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys)
|
rs758101602
|
0.00001
|
NM_014363.6(SACS):c.5985T>C (p.Asp1995=)
|
rs764645489
|
0.00001
|
NM_014363.6(SACS):c.6006A>G (p.Arg2002=)
|
rs920395434
|
0.00001
|
NM_014363.6(SACS):c.60C>T (p.Cys20=)
|
rs932552006
|
0.00001
|
NM_014363.6(SACS):c.6186T>C (p.Phe2062=)
|
rs755689089
|
0.00001
|
NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu)
|
rs1364796862
|
0.00001
|
NM_014363.6(SACS):c.6288A>T (p.Pro2096=)
|
rs139242482
|
0.00001
|
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)
|
rs762352013
|
0.00001
|
NM_014363.6(SACS):c.6399T>C (p.Tyr2133=)
|
rs775060182
|
0.00001
|
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn)
|
rs149278134
|
0.00001
|
NM_014363.6(SACS):c.6627A>G (p.Lys2209=)
|
rs764616342
|
0.00001
|
NM_014363.6(SACS):c.66C>T (p.Thr22=)
|
rs1394091047
|
0.00001
|
NM_014363.6(SACS):c.6864A>G (p.Pro2288=)
|
rs756561578
|
0.00001
|
NM_014363.6(SACS):c.6921A>G (p.Gly2307=)
|
rs200277478
|
0.00001
|
NM_014363.6(SACS):c.6939G>A (p.Glu2313=)
|
rs746279125
|
0.00001
|
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val)
|
rs752273313
|
0.00001
|
NM_014363.6(SACS):c.7164C>T (p.Thr2388=)
|
rs918107481
|
0.00001
|
NM_014363.6(SACS):c.7182A>G (p.Ser2394=)
|
rs768013904
|
0.00001
|
NM_014363.6(SACS):c.7203T>C (p.Ala2401=)
|
rs1400244997
|
0.00001
|
NM_014363.6(SACS):c.7230A>G (p.Glu2410=)
|
rs765300147
|
0.00001
|
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
|
rs1007936574
|
0.00001
|
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)
|
rs567650774
|
0.00001
|
NM_014363.6(SACS):c.7311A>G (p.Arg2437=)
|
rs1472391006
|
0.00001
|
NM_014363.6(SACS):c.7314A>G (p.Glu2438=)
|
rs748828472
|
0.00001
|
NM_014363.6(SACS):c.7376T>C (p.Met2459Thr)
|
rs767864000
|
0.00001
|
NM_014363.6(SACS):c.7485A>G (p.Lys2495=)
|
rs767941919
|
0.00001
|
NM_014363.6(SACS):c.7569G>A (p.Gly2523=)
|
rs749462494
|
0.00001
|
NM_014363.6(SACS):c.7674G>A (p.Ala2558=)
|
rs983508748
|
0.00001
|
NM_014363.6(SACS):c.7692G>A (p.Val2564=)
|
rs771924997
|
0.00001
|
NM_014363.6(SACS):c.7713A>G (p.Pro2571=)
|
rs557113294
|
0.00001
|
NM_014363.6(SACS):c.7747T>C (p.Leu2583=)
|
rs1017350676
|
0.00001
|
NM_014363.6(SACS):c.774G>A (p.Lys258=)
|
rs1165959000
|
0.00001
|
NM_014363.6(SACS):c.7833G>A (p.Thr2611=)
|
rs1237743096
|
0.00001
|
NM_014363.6(SACS):c.7962T>C (p.Tyr2654=)
|
rs777875035
|
0.00001
|
NM_014363.6(SACS):c.7974C>G (p.Ala2658=)
|
rs148209022
|
0.00001
|
NM_014363.6(SACS):c.8058G>C (p.Leu2686=)
|
rs779477513
|
0.00001
|
NM_014363.6(SACS):c.8109T>C (p.Arg2703=)
|
rs750168452
|
0.00001
|
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)
|
rs143386746
|
0.00001
|
NM_014363.6(SACS):c.8154A>G (p.Ala2718=)
|
rs773434326
|
0.00001
|
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile)
|
rs1327898921
|
0.00001
|
NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys)
|
rs772072343
|
0.00001
|
NM_014363.6(SACS):c.8307C>A (p.Ile2769=)
|
rs1478809811
|
0.00001
|
NM_014363.6(SACS):c.831A>G (p.Leu277=)
|
rs747543820
|
0.00001
|
NM_014363.6(SACS):c.8337A>G (p.Gln2779=)
|
rs777320906
|
0.00001
|
NM_014363.6(SACS):c.8379G>A (p.Gln2793=)
|
rs776028181
|
0.00001
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
NM_014363.6(SACS):c.861C>T (p.Tyr287=)
|
rs200877272
|
0.00001
|
NM_014363.6(SACS):c.8697T>C (p.Asp2899=)
|
rs766827808
|
0.00001
|
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=)
|
rs779302353
|
0.00001
|
NM_014363.6(SACS):c.8880A>G (p.Leu2960=)
|
rs1373611853
|
0.00001
|
NM_014363.6(SACS):c.8883G>A (p.Ser2961=)
|
rs1463204431
|
0.00001
|
NM_014363.6(SACS):c.8900G>A (p.Arg2967His)
|
rs777753707
|
0.00001
|
NM_014363.6(SACS):c.8931A>G (p.Leu2977=)
|
rs376228714
|
0.00001
|
NM_014363.6(SACS):c.8949T>C (p.Asn2983=)
|
rs530439104
|
0.00001
|
NM_014363.6(SACS):c.8976T>C (p.Leu2992=)
|
rs1184717209
|
0.00001
|
NM_014363.6(SACS):c.9108A>G (p.Gln3036=)
|
rs1226706134
|
0.00001
|
NM_014363.6(SACS):c.9168T>C (p.Tyr3056=)
|
rs374129015
|
0.00001
|
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)
|
rs758654165
|
0.00001
|
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp)
|
rs755698899
|
0.00001
|
NM_014363.6(SACS):c.924C>G (p.Leu308=)
|
rs368573394
|
0.00001
|
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val)
|
rs745664974
|
0.00001
|
NM_014363.6(SACS):c.930G>T (p.Leu310=)
|
rs1003682599
|
0.00001
|
NM_014363.6(SACS):c.9324T>C (p.Pro3108=)
|
rs748663426
|
0.00001
|
NM_014363.6(SACS):c.9339T>C (p.His3113=)
|
rs1883704767
|
0.00001
|
NM_014363.6(SACS):c.9345G>C (p.Gly3115=)
|
rs1356778975
|
0.00001
|
NM_014363.6(SACS):c.9426T>C (p.Asp3142=)
|
rs984124456
|
0.00001
|
NM_014363.6(SACS):c.9474A>G (p.Thr3158=)
|
rs1421120585
|
0.00001
|
NM_014363.6(SACS):c.9516G>A (p.Lys3172=)
|
rs1409643298
|
0.00001
|
NM_014363.6(SACS):c.9538T>C (p.Leu3180=)
|
rs1249527788
|
0.00001
|
NM_014363.6(SACS):c.9573A>G (p.Thr3191=)
|
rs761821873
|
0.00001
|
NM_014363.6(SACS):c.9618A>G (p.Ala3206=)
|
rs1377041786
|
0.00001
|
NM_014363.6(SACS):c.9636C>T (p.Ser3212=)
|
rs746474360
|
0.00001
|
NM_014363.6(SACS):c.9661G>A (p.Val3221Met)
|
rs142867964
|
0.00001
|
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)
|
rs776143384
|
0.00001
|
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)
|
rs765635417
|
0.00001
|
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp)
|
rs772595501
|
0.00001
|
NM_014363.6(SACS):c.9765A>G (p.Val3255=)
|
rs749004855
|
0.00001
|
NM_014363.6(SACS):c.9801A>T (p.Thr3267=)
|
rs765872254
|
0.00001
|
NM_014363.6(SACS):c.9822T>C (p.Thr3274=)
|
rs771522497
|
0.00001
|
NM_014363.6(SACS):c.984A>G (p.Lys328=)
|
rs1870322643
|
0.00001
|
NM_014363.6(SACS):c.9885T>A (p.Val3295=)
|
rs752805757
|
0.00001
|
NM_014363.6(SACS):c.9915C>T (p.Ser3305=)
|
rs761124250
|
0.00001
|
NM_014363.6(SACS):c.9996T>C (p.Leu3332=)
|
rs1484198071
|
0.00001
|
NM_015346.4(ZFYVE26):c.1005C>T (p.Leu335=)
|
rs772772440
|
0.00001
|
NM_015346.4(ZFYVE26):c.108A>G (p.Val36=)
|
rs759457505
|
0.00001
|
NM_015346.4(ZFYVE26):c.1092C>T (p.Pro364=)
|
rs566685704
|
0.00001
|
NM_015346.4(ZFYVE26):c.1128C>T (p.His376=)
|
rs557782295
|
0.00001
|
NM_015346.4(ZFYVE26):c.1159C>T (p.Leu387Phe)
|
rs76738736
|
0.00001
|
NM_015346.4(ZFYVE26):c.1161C>G (p.Leu387=)
|
rs60184489
|
0.00001
|
NM_015346.4(ZFYVE26):c.1182+9C>T
|
rs2040160593
|
0.00001
|
NM_015346.4(ZFYVE26):c.1209G>A (p.Arg403=)
|
rs1350552484
|
0.00001
|
NM_015346.4(ZFYVE26):c.1215C>T (p.Ala405=)
|
rs914725835
|
0.00001
|
NM_015346.4(ZFYVE26):c.1272-10T>C
|
rs773153713
|
0.00001
|
NM_015346.4(ZFYVE26):c.1294C>T (p.Leu432=)
|
rs376250446
|
0.00001
|
NM_015346.4(ZFYVE26):c.1311C>T (p.His437=)
|
rs148836697
|
0.00001
|
NM_015346.4(ZFYVE26):c.1332G>C (p.Val444=)
|
rs373043055
|
0.00001
|
NM_015346.4(ZFYVE26):c.1368C>T (p.Ala456=)
|
rs574247746
|
0.00001
|
NM_015346.4(ZFYVE26):c.1386T>C (p.Val462=)
|
rs1181139858
|
0.00001
|
NM_015346.4(ZFYVE26):c.1436-9G>A
|
rs1013932530
|
0.00001
|
NM_015346.4(ZFYVE26):c.1518T>C (p.Tyr506=)
|
rs2040090737
|
0.00001
|
NM_015346.4(ZFYVE26):c.1554C>T (p.His518=)
|
rs759327625
|
0.00001
|
NM_015346.4(ZFYVE26):c.1650T>C (p.Asn550=)
|
rs1180056235
|
0.00001
|
NM_015346.4(ZFYVE26):c.1740A>T (p.Ser580=)
|
rs985545374
|
0.00001
|
NM_015346.4(ZFYVE26):c.1806T>C (p.Asp602=)
|
rs753113451
|
0.00001
|
NM_015346.4(ZFYVE26):c.1809T>C (p.Asp603=)
|
rs1168529235
|
0.00001
|
NM_015346.4(ZFYVE26):c.1857C>T (p.Ser619=)
|
rs764478609
|
0.00001
|
NM_015346.4(ZFYVE26):c.1911C>T (p.Val637=)
|
rs1309567799
|
0.00001
|
NM_015346.4(ZFYVE26):c.1914A>G (p.Pro638=)
|
rs771972941
|
0.00001
|
NM_015346.4(ZFYVE26):c.1959A>G (p.Pro653=)
|
rs756480987
|
0.00001
|
NM_015346.4(ZFYVE26):c.2172C>T (p.Ser724=)
|
rs760456452
|
0.00001
|
NM_015346.4(ZFYVE26):c.2178G>A (p.Leu726=)
|
rs370772062
|
0.00001
|
NM_015346.4(ZFYVE26):c.2226G>A (p.Val742=)
|
rs2039993509
|
0.00001
|
NM_015346.4(ZFYVE26):c.2249-7C>T
|
rs1192842731
|
0.00001
|
NM_015346.4(ZFYVE26):c.2333-9T>C
|
rs1428905219
|
0.00001
|
NM_015346.4(ZFYVE26):c.2402-5A>C
|
rs756182820
|
0.00001
|
NM_015346.4(ZFYVE26):c.2409T>C (p.Ser803=)
|
rs781642527
|
0.00001
|
NM_015346.4(ZFYVE26):c.2436G>A (p.Glu812=)
|
rs1194462617
|
0.00001
|
NM_015346.4(ZFYVE26):c.2475C>A (p.Leu825=)
|
rs1266096645
|
0.00001
|
NM_015346.4(ZFYVE26):c.2505A>G (p.Ser835=)
|
rs1174556749
|
0.00001
|
NM_015346.4(ZFYVE26):c.2554-18C>T
|
rs771465086
|
0.00001
|
NM_015346.4(ZFYVE26):c.2592A>G (p.Ser864=)
|
rs562348210
|
0.00001
|
NM_015346.4(ZFYVE26):c.2643C>G (p.Ala881=)
|
rs2039789131
|
0.00001
|
NM_015346.4(ZFYVE26):c.2718C>T (p.Arg906=)
|
rs1197467194
|
0.00001
|
NM_015346.4(ZFYVE26):c.2772T>C (p.Ser924=)
|
rs1165516715
|
0.00001
|
NM_015346.4(ZFYVE26):c.2823C>T (p.Pro941=)
|
rs769295045
|
0.00001
|
NM_015346.4(ZFYVE26):c.2883A>G (p.Arg961=)
|
rs776043563
|
0.00001
|
NM_015346.4(ZFYVE26):c.2886G>A (p.Glu962=)
|
rs772671492
|
0.00001
|
NM_015346.4(ZFYVE26):c.2952C>G (p.Leu984=)
|
rs776265522
|
0.00001
|
NM_015346.4(ZFYVE26):c.2970G>A (p.Gln990=)
|
rs1277177199
|
0.00001
|
NM_015346.4(ZFYVE26):c.2985C>T (p.Ala995=)
|
rs772468217
|
0.00001
|
NM_015346.4(ZFYVE26):c.3020-10C>G
|
rs1025456260
|
0.00001
|
NM_015346.4(ZFYVE26):c.3072A>G (p.Pro1024=)
|
rs1208106488
|
0.00001
|
NM_015346.4(ZFYVE26):c.312T>C (p.Phe104=)
|
rs765368162
|
0.00001
|
NM_015346.4(ZFYVE26):c.3228T>C (p.Cys1076=)
|
rs377376619
|
0.00001
|
NM_015346.4(ZFYVE26):c.3273T>C (p.Leu1091=)
|
rs143747540
|
0.00001
|
NM_015346.4(ZFYVE26):c.3280C>T (p.Leu1094=)
|
rs780684641
|
0.00001
|
NM_015346.4(ZFYVE26):c.3304+7G>A
|
rs1463944005
|
0.00001
|
NM_015346.4(ZFYVE26):c.3441G>A (p.Arg1147=)
|
rs753535944
|
0.00001
|
NM_015346.4(ZFYVE26):c.3523+9C>A
|
rs1186825516
|
0.00001
|
NM_015346.4(ZFYVE26):c.363+15T>G
|
rs1055373300
|
0.00001
|
NM_015346.4(ZFYVE26):c.363+7G>A
|
rs1297622728
|
0.00001
|
NM_015346.4(ZFYVE26):c.3636C>G (p.Ala1212=)
|
rs1024821330
|
0.00001
|
NM_015346.4(ZFYVE26):c.364-12T>C
|
rs757340973
|
0.00001
|
NM_015346.4(ZFYVE26):c.364-4T>G
|
rs1165328816
|
0.00001
|
NM_015346.4(ZFYVE26):c.3735G>A (p.Gln1245=)
|
rs776265667
|
0.00001
|
NM_015346.4(ZFYVE26):c.3765T>C (p.Thr1255=)
|
rs1298362828
|
0.00001
|
NM_015346.4(ZFYVE26):c.3801C>T (p.Asp1267=)
|
rs2039559128
|
0.00001
|
NM_015346.4(ZFYVE26):c.3819G>A (p.Pro1273=)
|
rs752013494
|
0.00001
|
NM_015346.4(ZFYVE26):c.3843C>T (p.Asn1281=)
|
rs775294356
|
0.00001
|
NM_015346.4(ZFYVE26):c.3882C>T (p.Asp1294=)
|
rs2039555535
|
0.00001
|
NM_015346.4(ZFYVE26):c.3897C>T (p.Ala1299=)
|
rs1289089560
|
0.00001
|
NM_015346.4(ZFYVE26):c.3903C>T (p.Thr1301=)
|
rs1342222658
|
0.00001
|
NM_015346.4(ZFYVE26):c.3951G>A (p.Thr1317=)
|
rs759228538
|
0.00001
|
NM_015346.4(ZFYVE26):c.3975G>A (p.Pro1325=)
|
rs954507732
|
0.00001
|
NM_015346.4(ZFYVE26):c.4005A>G (p.Ser1335=)
|
rs907667900
|
0.00001
|
NM_015346.4(ZFYVE26):c.4071G>A (p.Glu1357=)
|
rs780774765
|
0.00001
|
NM_015346.4(ZFYVE26):c.408T>C (p.Pro136=)
|
rs186059110
|
0.00001
|
NM_015346.4(ZFYVE26):c.4110C>T (p.Leu1370=)
|
rs753815763
|
0.00001
|
NM_015346.4(ZFYVE26):c.4155G>A (p.Gln1385=)
|
rs1331227084
|
0.00001
|
NM_015346.4(ZFYVE26):c.4159C>T (p.Leu1387=)
|
rs1381264309
|
0.00001
|
NM_015346.4(ZFYVE26):c.4215T>C (p.His1405=)
|
rs1446643275
|
0.00001
|
NM_015346.4(ZFYVE26):c.4239G>A (p.Leu1413=)
|
rs538068224
|
0.00001
|
NM_015346.4(ZFYVE26):c.4260C>T (p.Ser1420=)
|
rs375157574
|
0.00001
|
NM_015346.4(ZFYVE26):c.4284G>T (p.Arg1428=)
|
rs775176106
|
0.00001
|
NM_015346.4(ZFYVE26):c.4434C>G (p.Ala1478=)
|
rs1594911372
|
0.00001
|
NM_015346.4(ZFYVE26):c.4449C>T (p.Asp1483=)
|
rs372529411
|
0.00001
|
NM_015346.4(ZFYVE26):c.4560G>A (p.Val1520=)
|
rs1427063432
|
0.00001
|
NM_015346.4(ZFYVE26):c.4663C>T (p.Leu1555=)
|
rs2039462773
|
0.00001
|
NM_015346.4(ZFYVE26):c.4665A>G (p.Leu1555=)
|
rs749442870
|
0.00001
|
NM_015346.4(ZFYVE26):c.4791T>C (p.Ala1597=)
|
rs1320545650
|
0.00001
|
NM_015346.4(ZFYVE26):c.4798-8G>A
|
rs200338375
|
0.00001
|
NM_015346.4(ZFYVE26):c.4803G>A (p.Leu1601=)
|
rs772399290
|
0.00001
|
NM_015346.4(ZFYVE26):c.4824C>G (p.Thr1608=)
|
rs200553438
|
0.00001
|
NM_015346.4(ZFYVE26):c.4959G>A (p.Leu1653=)
|
rs1279156296
|
0.00001
|
NM_015346.4(ZFYVE26):c.4975-17A>G
|
rs778581639
|
0.00001
|
NM_015346.4(ZFYVE26):c.4980G>A (p.Leu1660=)
|
rs756162071
|
0.00001
|
NM_015346.4(ZFYVE26):c.5037G>A (p.Leu1679=)
|
rs1487783847
|
0.00001
|
NM_015346.4(ZFYVE26):c.5097G>A (p.Gln1699=)
|
rs781146107
|
0.00001
|
NM_015346.4(ZFYVE26):c.5130T>C (p.Ile1710=)
|
rs1333069870
|
0.00001
|
NM_015346.4(ZFYVE26):c.5172C>T (p.Tyr1724=)
|
rs759141456
|
0.00001
|
NM_015346.4(ZFYVE26):c.5199C>T (p.Tyr1733=)
|
rs2039328201
|
0.00001
|
NM_015346.4(ZFYVE26):c.5222-4A>G
|
rs1331826992
|
0.00001
|
NM_015346.4(ZFYVE26):c.5222-6C>T
|
rs762607184
|
0.00001
|
NM_015346.4(ZFYVE26):c.5222-7T>C
|
rs868061324
|
0.00001
|
NM_015346.4(ZFYVE26):c.5222-8C>T
|
rs765966529
|
0.00001
|
NM_015346.4(ZFYVE26):c.5244A>G (p.Glu1748=)
|
rs776400030
|
0.00001
|
NM_015346.4(ZFYVE26):c.5268C>T (p.Pro1756=)
|
rs757534059
|
0.00001
|
NM_015346.4(ZFYVE26):c.5320+8C>G
|
rs369345632
|
0.00001
|
NM_015346.4(ZFYVE26):c.5320+9T>C
|
rs559219595
|
0.00001
|
NM_015346.4(ZFYVE26):c.5321-13C>A
|
rs757872181
|
0.00001
|
NM_015346.4(ZFYVE26):c.5321-9G>A
|
rs1310234849
|
0.00001
|
NM_015346.4(ZFYVE26):c.5328C>A (p.Ser1776=)
|
rs201033152
|
0.00001
|
NM_015346.4(ZFYVE26):c.5352G>A (p.Arg1784=)
|
rs749248351
|
0.00001
|
NM_015346.4(ZFYVE26):c.5409C>A (p.Pro1803=)
|
rs745326956
|
0.00001
|
NM_015346.4(ZFYVE26):c.5478C>T (p.Phe1826=)
|
rs759552463
|
0.00001
|
NM_015346.4(ZFYVE26):c.5517C>T (p.Gly1839=)
|
rs968380244
|
0.00001
|
NM_015346.4(ZFYVE26):c.5556G>A (p.Val1852=)
|
rs138347091
|
0.00001
|
NM_015346.4(ZFYVE26):c.5621+10C>T
|
rs746828024
|
0.00001
|
NM_015346.4(ZFYVE26):c.5622-8G>A
|
rs768215819
|
0.00001
|
NM_015346.4(ZFYVE26):c.5649A>C (p.Pro1883=)
|
rs934241128
|
0.00001
|
NM_015346.4(ZFYVE26):c.5653+8C>T
|
rs1466360655
|
0.00001
|
NM_015346.4(ZFYVE26):c.5691G>A (p.Ser1897=)
|
rs558318162
|
0.00001
|
NM_015346.4(ZFYVE26):c.5700G>A (p.Val1900=)
|
rs751994151
|
0.00001
|
NM_015346.4(ZFYVE26):c.5706C>A (p.Val1902=)
|
rs1251746638
|
0.00001
|
NM_015346.4(ZFYVE26):c.5709C>T (p.Pro1903=)
|
rs147620229
|
0.00001
|
NM_015346.4(ZFYVE26):c.5712A>G (p.Lys1904=)
|
rs1391052284
|
0.00001
|
NM_015346.4(ZFYVE26):c.5718T>C (p.Asp1906=)
|
rs763496662
|
0.00001
|
NM_015346.4(ZFYVE26):c.5766G>A (p.Val1922=)
|
rs545330467
|
0.00001
|
NM_015346.4(ZFYVE26):c.5791-7C>T
|
rs879477348
|
0.00001
|
NM_015346.4(ZFYVE26):c.5860C>T (p.Leu1954=)
|
rs1273950788
|
0.00001
|
NM_015346.4(ZFYVE26):c.5904A>G (p.Pro1968=)
|
rs1303468263
|
0.00001
|
NM_015346.4(ZFYVE26):c.5931C>T (p.Asp1977=)
|
rs2039057021
|
0.00001
|
NM_015346.4(ZFYVE26):c.6012-10C>T
|
rs757050992
|
0.00001
|
NM_015346.4(ZFYVE26):c.601T>C (p.Leu201=)
|
rs750838440
|
0.00001
|
NM_015346.4(ZFYVE26):c.6066C>T (p.His2022=)
|
rs773571478
|
0.00001
|
NM_015346.4(ZFYVE26):c.6159+10A>C
|
rs751622378
|
0.00001
|
NM_015346.4(ZFYVE26):c.6189C>T (p.Thr2063=)
|
rs777612795
|
0.00001
|
NM_015346.4(ZFYVE26):c.6351G>C (p.Val2117=)
|
rs1389445191
|
0.00001
|
NM_015346.4(ZFYVE26):c.6378C>T (p.Asp2126=)
|
rs764651563
|
0.00001
|
NM_015346.4(ZFYVE26):c.6399G>A (p.Arg2133=)
|
rs1450048880
|
0.00001
|
NM_015346.4(ZFYVE26):c.6408A>G (p.Glu2136=)
|
rs1333326345
|
0.00001
|
NM_015346.4(ZFYVE26):c.6435T>G (p.Ser2145=)
|
rs1201831215
|
0.00001
|
NM_015346.4(ZFYVE26):c.6582C>T (p.Leu2194=)
|
rs1187035716
|
0.00001
|
NM_015346.4(ZFYVE26):c.6585C>T (p.Asn2195=)
|
rs377709932
|
0.00001
|
NM_015346.4(ZFYVE26):c.6589-18C>T
|
rs369074633
|
0.00001
|
NM_015346.4(ZFYVE26):c.6589-6C>T
|
rs766195517
|
0.00001
|
NM_015346.4(ZFYVE26):c.6630A>C (p.Pro2210=)
|
rs2038772092
|
0.00001
|
NM_015346.4(ZFYVE26):c.6645G>A (p.Gly2215=)
|
rs1278427910
|
0.00001
|
NM_015346.4(ZFYVE26):c.6657T>G (p.Thr2219=)
|
rs905632913
|
0.00001
|
NM_015346.4(ZFYVE26):c.669G>A (p.Arg223=)
|
rs754557488
|
0.00001
|
NM_015346.4(ZFYVE26):c.6723C>T (p.Ala2241=)
|
rs1439817240
|
0.00001
|
NM_015346.4(ZFYVE26):c.6741G>A (p.Lys2247=)
|
rs201076694
|
0.00001
|
NM_015346.4(ZFYVE26):c.6870A>G (p.Ser2290=)
|
rs766701632
|
0.00001
|
NM_015346.4(ZFYVE26):c.6986+10G>A
|
rs201619539
|
0.00001
|
NM_015346.4(ZFYVE26):c.6986+12T>C
|
rs2038742277
|
0.00001
|
NM_015346.4(ZFYVE26):c.6999A>G (p.Thr2333=)
|
rs1163419770
|
0.00001
|
NM_015346.4(ZFYVE26):c.7089G>A (p.Leu2363=)
|
rs773000073
|
0.00001
|
NM_015346.4(ZFYVE26):c.7129-14C>T
|
rs745982383
|
0.00001
|
NM_015346.4(ZFYVE26):c.7129-8C>T
|
rs530282754
|
0.00001
|
NM_015346.4(ZFYVE26):c.7248A>G (p.Lys2416=)
|
rs886050652
|
0.00001
|
NM_015346.4(ZFYVE26):c.7365G>A (p.Pro2455=)
|
rs766261905
|
0.00001
|
NM_015346.4(ZFYVE26):c.7371+15G>A
|
rs765474728
|
0.00001
|
NM_015346.4(ZFYVE26):c.7377G>A (p.Leu2459=)
|
rs1014312605
|
0.00001
|
NM_015346.4(ZFYVE26):c.7384C>T (p.Leu2462=)
|
rs761032290
|
0.00001
|
NM_015346.4(ZFYVE26):c.7389C>T (p.Ile2463=)
|
rs199735522
|
0.00001
|
NM_015346.4(ZFYVE26):c.7413C>T (p.Asn2471=)
|
rs769245111
|
0.00001
|
NM_015346.4(ZFYVE26):c.7417-8A>T
|
rs372540351
|
0.00001
|
NM_015346.4(ZFYVE26):c.7434A>C (p.Ile2478=)
|
rs1393104950
|
0.00001
|
NM_015346.4(ZFYVE26):c.7458C>T (p.Tyr2486=)
|
rs766789454
|
0.00001
|
NM_015346.4(ZFYVE26):c.7459T>C (p.Leu2487=)
|
rs763370008
|
0.00001
|
NM_015346.4(ZFYVE26):c.7521C>T (p.Ala2507=)
|
rs745599153
|
0.00001
|
NM_015346.4(ZFYVE26):c.760C>T (p.Leu254=)
|
rs759762982
|
0.00001
|
NM_015346.4(ZFYVE26):c.771G>A (p.Glu257=)
|
rs749671607
|
0.00001
|
NM_015346.4(ZFYVE26):c.789G>A (p.Leu263=)
|
rs1375922528
|
0.00001
|
NM_015346.4(ZFYVE26):c.795C>T (p.His265=)
|
rs757869407
|
0.00001
|
NM_015346.4(ZFYVE26):c.804C>T (p.Ser268=)
|
rs745467429
|
0.00001
|
NM_015346.4(ZFYVE26):c.825T>C (p.Tyr275=)
|
rs2040204823
|
0.00001
|
NM_015346.4(ZFYVE26):c.864G>A (p.Pro288=)
|
rs1360412471
|
0.00001
|
NM_015346.4(ZFYVE26):c.886+9C>T
|
rs1487961068
|
0.00001
|
NM_015346.4(ZFYVE26):c.887-18G>A
|
rs184685606
|
0.00001
|
NM_015346.4(ZFYVE26):c.936C>T (p.Ser312=)
|
rs372840711
|
0.00001
|
NM_015346.4(ZFYVE26):c.966G>A (p.Val322=)
|
rs764563280
|
0.00001
|
NM_015346.4(ZFYVE26):c.9T>C (p.His3=)
|
rs904309189
|
0.00001
|
NM_020435.4(GJC2):c.303C>T (p.Arg101=)
|
rs147954793
|
0.00001
|
NM_020435.4(GJC2):c.309C>T (p.Ala103=)
|
rs746640254
|
0.00001
|
NM_020435.4(GJC2):c.453C>G (p.Gly151=)
|
rs758276637
|
0.00001
|
NM_020435.4(GJC2):c.561G>A (p.Lys187=)
|
rs1161650965
|
0.00001
|
NM_020435.4(GJC2):c.96G>A (p.Val32=)
|
rs769772220
|
0.00001
|
NM_020944.3(GBA2):c.1129+10G>T
|
rs764503157
|
0.00001
|
NM_020944.3(GBA2):c.1215C>T (p.Arg405=)
|
rs966842217
|
0.00001
|
NM_020944.3(GBA2):c.1428C>T (p.Tyr476=)
|
rs781075990
|
0.00001
|
NM_020944.3(GBA2):c.1452A>G (p.Leu484=)
|
rs1484976956
|
0.00001
|
NM_020944.3(GBA2):c.2121G>A (p.Gly707=)
|
rs746728147
|
0.00001
|
NM_020944.3(GBA2):c.2314-8C>T
|
rs774358705
|
0.00001
|
NM_020944.3(GBA2):c.2454T>C (p.Asp818=)
|
rs747616868
|
0.00001
|
NM_024306.5(FA2H):c.1060T>C (p.Leu354=)
|
rs372391824
|
0.00001
|
NM_024306.5(FA2H):c.1086C>T (p.Leu362=)
|
rs923262192
|
0.00001
|
NM_024306.5(FA2H):c.270+8C>T
|
rs1159270463
|
0.00001
|
NM_024306.5(FA2H):c.285C>T (p.Asn95=)
|
rs772718168
|
0.00001
|
NM_024306.5(FA2H):c.590G>A (p.Arg197Gln)
|
rs771625273
|
0.00001
|
NM_024306.5(FA2H):c.600G>A (p.Thr200=)
|
rs774718977
|
0.00001
|
NM_024306.5(FA2H):c.633C>T (p.Pro211=)
|
rs761379296
|
0.00001
|
NM_024306.5(FA2H):c.786+17C>T
|
rs776399428
|
0.00001
|
NM_024306.5(FA2H):c.831C>T (p.Ala277=)
|
rs541507213
|
0.00001
|
NM_024306.5(FA2H):c.834C>T (p.Ser278=)
|
rs890278057
|
0.00001
|
NM_183075.3(CYP2U1):c.1119T>C (p.Asp373=)
|
rs146900161
|
0.00001
|
NM_183075.3(CYP2U1):c.1122A>T (p.Val374=)
|
rs1452292041
|
0.00001
|
NM_183075.3(CYP2U1):c.318C>T (p.Leu106=)
|
rs1233601038
|
0.00001
|
NM_183075.3(CYP2U1):c.648C>A (p.Asp216Glu)
|
rs774149338
|
0.00001
|
NM_183075.3(CYP2U1):c.681C>T (p.Ala227=)
|
rs760847189
|
0.00001
|
NM_183075.3(CYP2U1):c.888T>C (p.Ser296=)
|
rs369116680
|
0.00001
|
NM_183075.3(CYP2U1):c.996T>C (p.Asn332=)
|
rs746836401
|
0.00001
|
NM_183075.3(CYP2U1):c.99C>T (p.Ser33=)
|
rs1322395741
|
0.00001
|
NM_001012301.4(ARSI):c.1098T>C (p.Asp366=)
|
|
|
NM_001012301.4(ARSI):c.1116C>T (p.Asp372=)
|
|
|
NM_001012301.4(ARSI):c.1158G>A (p.Thr386=)
|
|
|
NM_001012301.4(ARSI):c.1578T>C (p.Asp526=)
|
|
|
NM_001012301.4(ARSI):c.213C>G (p.Thr71=)
|
|
|
NM_001012301.4(ARSI):c.234G>A (p.Ala78=)
|
|
|
NM_001012301.4(ARSI):c.311+13C>T
|
|
|
NM_001012301.4(ARSI):c.510G>C (p.Ser170=)
|
rs149029950
|
|
NM_001012301.4(ARSI):c.528C>T (p.Asp176=)
|
rs2150320589
|
|
NM_001012301.4(ARSI):c.555C>T (p.Gly185=)
|
|
|
NM_001012301.4(ARSI):c.573C>T (p.Phe191=)
|
|
|
NM_001012301.4(ARSI):c.612C>T (p.Ser204=)
|
|
|
NM_001012301.4(ARSI):c.930G>A (p.Pro310=)
|
rs140546154
|
|
NM_001128126.3(AP4S1):c.139-13G>T
|
rs1267528530
|
|
NM_001128126.3(AP4S1):c.171G>A (p.Leu57=)
|
|
|
NM_001128126.3(AP4S1):c.225+12G>C
|
|
|
NM_001128126.3(AP4S1):c.226-19C>T
|
|
|
NM_001128126.3(AP4S1):c.226-9T>C
|
|
|
NM_001128126.3(AP4S1):c.295-13T>C
|
|
|
NM_001128126.3(AP4S1):c.295-16T>C
|
|
|
NM_001128126.3(AP4S1):c.306+4167T>C
|
|
|
NM_001128126.3(AP4S1):c.306+4179T>G
|
rs1172170067
|
|
NM_001128126.3(AP4S1):c.306+4277C>T
|
|
|
NM_001128126.3(AP4S1):c.306+45C>T
|
|
|
NM_001128126.3(AP4S1):c.306+74G>A
|
|
|
NM_001128126.3(AP4S1):c.306+78G>A
|
rs1887590681
|
|
NM_001128126.3(AP4S1):c.306T>C (p.Asp102=)
|
|
|
NM_001278116.2(L1CAM):c.1014G>A (p.Lys338=)
|
|
|
NM_001278116.2(L1CAM):c.102A>G (p.Pro34=)
|
|
|
NM_001278116.2(L1CAM):c.1074C>A (p.Gly358=)
|
|
|
NM_001278116.2(L1CAM):c.1101A>G (p.Arg367=)
|
|
|
NM_001278116.2(L1CAM):c.1117G>A (p.Val373Met)
|
|
|
NM_001278116.2(L1CAM):c.1123+12C>T
|
|
|
NM_001278116.2(L1CAM):c.1123+20G>A
|
|
|
NM_001278116.2(L1CAM):c.1124-10G>C
|
rs2148497514
|
|
NM_001278116.2(L1CAM):c.1124-6G>T
|
|
|
NM_001278116.2(L1CAM):c.1124-9C>T
|
|
|
NM_001278116.2(L1CAM):c.1128G>A (p.Leu376=)
|
|
|
NM_001278116.2(L1CAM):c.1140G>C (p.Gln380His)
|
|
|
NM_001278116.2(L1CAM):c.1144T>G (p.Tyr382Asp)
|
|
|
NM_001278116.2(L1CAM):c.1158T>C (p.Arg386=)
|
rs1603275708
|
|
NM_001278116.2(L1CAM):c.1165C>T (p.Leu389=)
|
|
|
NM_001278116.2(L1CAM):c.1167G>A (p.Leu389=)
|
|
|
NM_001278116.2(L1CAM):c.1170C>T (p.Ile390=)
|
|
|
NM_001278116.2(L1CAM):c.1226G>A (p.Arg409Gln)
|
|
|
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val)
|
|
|
NM_001278116.2(L1CAM):c.1267+13C>T
|
|
|
NM_001278116.2(L1CAM):c.1267+17C>T
|
|
|
NM_001278116.2(L1CAM):c.1268-10C>G
|
|
|
NM_001278116.2(L1CAM):c.1268-11T>C
|
|
|
NM_001278116.2(L1CAM):c.1268-15C>T
|
|
|
NM_001278116.2(L1CAM):c.1268-16G>A
|
|
|
NM_001278116.2(L1CAM):c.1268-5C>T
|
|
|
NM_001278116.2(L1CAM):c.1292C>T (p.Ala431Val)
|
|
|
NM_001278116.2(L1CAM):c.12G>A (p.Ala4=)
|
|
|
NM_001278116.2(L1CAM):c.1325G>A (p.Ser442Asn)
|
|
|
NM_001278116.2(L1CAM):c.1335C>T (p.Tyr445=)
|
rs1603275513
|
|
NM_001278116.2(L1CAM):c.1359G>C (p.Ala453=)
|
|
|
NM_001278116.2(L1CAM):c.1359G>T (p.Ala453=)
|
|
|
NM_001278116.2(L1CAM):c.1362T>A (p.Pro454=)
|
|
|
NM_001278116.2(L1CAM):c.1379+10_1379+32del
|
|
|
NM_001278116.2(L1CAM):c.1379+11C>G
|
|
|
NM_001278116.2(L1CAM):c.1379+11C>T
|
|
|
NM_001278116.2(L1CAM):c.1379+16T>A
|
|
|
NM_001278116.2(L1CAM):c.1379+20A>G
|
|
|
NM_001278116.2(L1CAM):c.1379+8T>A
|
|
|
NM_001278116.2(L1CAM):c.1380-16G>A
|
|
|
NM_001278116.2(L1CAM):c.1380-5T>C
|
|
|
NM_001278116.2(L1CAM):c.1380-6C>G
|
|
|
NM_001278116.2(L1CAM):c.1380-8C>T
|
|
|
NM_001278116.2(L1CAM):c.1395G>A (p.Gly465=)
|
|
|
NM_001278116.2(L1CAM):c.1396A>G (p.Thr466Ala)
|
|
|
NM_001278116.2(L1CAM):c.1422C>T (p.Phe474=)
|
|
|
NM_001278116.2(L1CAM):c.1434C>A (p.Ala478=)
|
|
|
NM_001278116.2(L1CAM):c.1434C>T (p.Ala478=)
|
|
|
NM_001278116.2(L1CAM):c.1449C>T (p.Gly483=)
|
|
|
NM_001278116.2(L1CAM):c.1454G>A (p.Arg485Gln)
|
|
|
NM_001278116.2(L1CAM):c.1461C>T (p.Leu487=)
|
|
|
NM_001278116.2(L1CAM):c.1464G>A (p.Gln488=)
|
|
|
NM_001278116.2(L1CAM):c.1473C>T (p.Asp491=)
|
|
|
NM_001278116.2(L1CAM):c.1476C>A (p.Thr492=)
|
|
|
NM_001278116.2(L1CAM):c.1479A>T (p.Gly493=)
|
|
|
NM_001278116.2(L1CAM):c.147C>A (p.Pro49=)
|
|
|
NM_001278116.2(L1CAM):c.1491C>T (p.Cys497=)
|
|
|
NM_001278116.2(L1CAM):c.1506C>T (p.Asp502=)
|
|
|
NM_001278116.2(L1CAM):c.1546+10C>A
|
|
|
NM_001278116.2(L1CAM):c.1546+15G>A
|
|
|
NM_001278116.2(L1CAM):c.1546+15G>T
|
|
|
NM_001278116.2(L1CAM):c.1546+9_1546+20del
|
|
|
NM_001278116.2(L1CAM):c.1547-11A>G
|
|
|
NM_001278116.2(L1CAM):c.1547-13G>A
|
|
|
NM_001278116.2(L1CAM):c.1547-17G>A
|
|
|
NM_001278116.2(L1CAM):c.1547-5C>T
|
|
|
NM_001278116.2(L1CAM):c.1567G>A (p.Gly523Arg)
|
|
|
NM_001278116.2(L1CAM):c.1595G>A (p.Gly532Asp)
|
|
|
NM_001278116.2(L1CAM):c.1596T>C (p.Gly532=)
|
|
|
NM_001278116.2(L1CAM):c.1603G>A (p.Val535Met)
|
|
|
NM_001278116.2(L1CAM):c.1614G>A (p.Thr538=)
|
|
|
NM_001278116.2(L1CAM):c.1638C>A (p.Ser546=)
|
|
|
NM_001278116.2(L1CAM):c.1641G>A (p.Leu547=)
|
|
|
NM_001278116.2(L1CAM):c.1661G>A (p.Arg554His)
|
|
|
NM_001278116.2(L1CAM):c.1668C>T (p.Asp556=)
|
|
|
NM_001278116.2(L1CAM):c.1677C>A (p.Asp559Glu)
|
|
|
NM_001278116.2(L1CAM):c.1677C>T (p.Asp559=)
|
|
|
NM_001278116.2(L1CAM):c.1680C>G (p.Leu560=)
|
|
|
NM_001278116.2(L1CAM):c.1703+13A>T
|
|
|
NM_001278116.2(L1CAM):c.1703+8C>T
|
|
|
NM_001278116.2(L1CAM):c.1704-13G>A
|
|
|
NM_001278116.2(L1CAM):c.1704-13G>C
|
|
|
NM_001278116.2(L1CAM):c.1719T>C (p.Asp573=)
|
|
|
NM_001278116.2(L1CAM):c.1731C>T (p.Val577=)
|
|
|
NM_001278116.2(L1CAM):c.1751G>A (p.Ser584Asn)
|
|
|
NM_001278116.2(L1CAM):c.1767C>T (p.Tyr589=)
|
|
|
NM_001278116.2(L1CAM):c.1774G>A (p.Val592Met)
|
|
|
NM_001278116.2(L1CAM):c.1779C>T (p.Ala593=)
|
|
|
NM_001278116.2(L1CAM):c.1809G>A (p.Arg603=)
|
|
|
NM_001278116.2(L1CAM):c.1829-11C>T
|
|
|
NM_001278116.2(L1CAM):c.1829-12C>T
|
|
|
NM_001278116.2(L1CAM):c.1829-15C>A
|
|
|
NM_001278116.2(L1CAM):c.1829-18G>A
|
|
|
NM_001278116.2(L1CAM):c.1829-18G>C
|
|
|
NM_001278116.2(L1CAM):c.1829-19C>T
|
|
|
NM_001278116.2(L1CAM):c.1829-6C>T
|
|
|
NM_001278116.2(L1CAM):c.1830G>A (p.Gly610=)
|
|
|
NM_001278116.2(L1CAM):c.1833C>T (p.Ser611=)
|
|
|
NM_001278116.2(L1CAM):c.1842G>A (p.Pro614=)
|
rs2064729357
|
|
NM_001278116.2(L1CAM):c.1850G>A (p.Arg617Gln)
|
|
|
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)
|
|
|
NM_001278116.2(L1CAM):c.1869G>C (p.Leu623=)
|
|
|
NM_001278116.2(L1CAM):c.1872C>T (p.His624=)
|
|
|
NM_001278116.2(L1CAM):c.1895G>A (p.Arg632His)
|
|
|
NM_001278116.2(L1CAM):c.1899G>T (p.Val633=)
|
|
|
NM_001278116.2(L1CAM):c.189C>T (p.Pro63=)
|
|
|
NM_001278116.2(L1CAM):c.190G>A (p.Glu64Lys)
|
|
|
NM_001278116.2(L1CAM):c.1927G>A (p.Ala643Thr)
|
|
|
NM_001278116.2(L1CAM):c.1929C>T (p.Ala643=)
|
|
|
NM_001278116.2(L1CAM):c.1939+20T>C
|
|
|
NM_001278116.2(L1CAM):c.1939+7G>A
|
|
|
NM_001278116.2(L1CAM):c.1940-13C>A
|
|
|
NM_001278116.2(L1CAM):c.1940-14T>C
|
|
|
NM_001278116.2(L1CAM):c.1940-16G>T
|
|
|
NM_001278116.2(L1CAM):c.1940-17G>T
|
|
|
NM_001278116.2(L1CAM):c.1940-8C>A
|
|
|
NM_001278116.2(L1CAM):c.1944T>C (p.Tyr648=)
|
|
|
NM_001278116.2(L1CAM):c.197+14G>A
|
|
|
NM_001278116.2(L1CAM):c.197+16C>T
|
|
|
NM_001278116.2(L1CAM):c.197+18T>C
|
|
|
NM_001278116.2(L1CAM):c.1974G>A (p.Ala658=)
|
|
|
NM_001278116.2(L1CAM):c.1974G>T (p.Ala658=)
|
|
|
NM_001278116.2(L1CAM):c.198-10C>T
|
|
|
NM_001278116.2(L1CAM):c.198-17C>A
|
|
|
NM_001278116.2(L1CAM):c.198-17C>G
|
|
|
NM_001278116.2(L1CAM):c.198-18G>T
|
|
|
NM_001278116.2(L1CAM):c.198-5C>T
|
|
|
NM_001278116.2(L1CAM):c.198-7C>G
|
|
|
NM_001278116.2(L1CAM):c.198-8G>A
|
rs201664558
|
|
NM_001278116.2(L1CAM):c.198-8G>T
|
|
|
NM_001278116.2(L1CAM):c.2016G>A (p.Gln672=)
|
|
|
NM_001278116.2(L1CAM):c.2022T>C (p.Ser674=)
|
|
|
NM_001278116.2(L1CAM):c.2025C>T (p.Thr675=)
|
|
|
NM_001278116.2(L1CAM):c.2049C>T (p.Val683=)
|
|
|
NM_001278116.2(L1CAM):c.2058C>T (p.Thr686=)
|
rs1603274965
|
|
NM_001278116.2(L1CAM):c.2070T>C (p.Thr690=)
|
|
|
NM_001278116.2(L1CAM):c.2094G>A (p.Gly698=)
|
|
|
NM_001278116.2(L1CAM):c.2095G>A (p.Glu699Lys)
|
|
|
NM_001278116.2(L1CAM):c.210G>A (p.Thr70=)
|
|
|
NM_001278116.2(L1CAM):c.2121G>A (p.Val707=)
|
|
|
NM_001278116.2(L1CAM):c.2130T>C (p.Pro710=)
|
|
|
NM_001278116.2(L1CAM):c.2137+11G>A
|
|
|
NM_001278116.2(L1CAM):c.2137+15C>T
|
|
|
NM_001278116.2(L1CAM):c.2137+18C>A
|
|
|
NM_001278116.2(L1CAM):c.2137+19C>T
|
|
|
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT
|
rs398123361
|
|
NM_001278116.2(L1CAM):c.2138-18T>C
|
|
|
NM_001278116.2(L1CAM):c.2138-20G>A
|
|
|
NM_001278116.2(L1CAM):c.2138-21_2138-18dup
|
|
|
NM_001278116.2(L1CAM):c.2138-4C>G
|
|
|
NM_001278116.2(L1CAM):c.2166G>A (p.Lys722=)
|
|
|
NM_001278116.2(L1CAM):c.2184C>T (p.Thr728=)
|
|
|
NM_001278116.2(L1CAM):c.2201C>T (p.Thr734Met)
|
|
|
NM_001278116.2(L1CAM):c.2208+12T>C
|
|
|
NM_001278116.2(L1CAM):c.2209-10C>T
|
|
|
NM_001278116.2(L1CAM):c.2209-13T>C
|
|
|
NM_001278116.2(L1CAM):c.2209-9C>T
|
rs201704250
|
|
NM_001278116.2(L1CAM):c.2211G>T (p.Pro737=)
|
|
|
NM_001278116.2(L1CAM):c.2214C>T (p.Leu738=)
|
|
|
NM_001278116.2(L1CAM):c.2216G>A (p.Arg739Gln)
|
|
|
NM_001278116.2(L1CAM):c.2217G>A (p.Arg739=)
|
|
|
NM_001278116.2(L1CAM):c.2222T>C (p.Met741Thr)
|
|
|
NM_001278116.2(L1CAM):c.2252G>A (p.Arg751His)
|
|
|
NM_001278116.2(L1CAM):c.2253C>T (p.Arg751=)
|
|
|
NM_001278116.2(L1CAM):c.225C>T (p.His75=)
|
|
|
NM_001278116.2(L1CAM):c.2274G>C (p.Gly758=)
|
rs2071643
|
|
NM_001278116.2(L1CAM):c.2280A>G (p.Arg760=)
|
|
|
NM_001278116.2(L1CAM):c.2295G>A (p.Glu765=)
|
|
|
NM_001278116.2(L1CAM):c.2325G>A (p.Val775=)
|
|
|
NM_001278116.2(L1CAM):c.2340C>T (p.Thr780=)
|
rs2064716807
|
|
NM_001278116.2(L1CAM):c.2344G>C (p.Val782Leu)
|
|
|
NM_001278116.2(L1CAM):c.2349C>T (p.Pro783=)
|
|
|
NM_001278116.2(L1CAM):c.2371G>A (p.Val791Ile)
|
|
|
NM_001278116.2(L1CAM):c.2382G>C (p.Gln794His)
|
|
|
NM_001278116.2(L1CAM):c.2401C>G (p.Gln801Glu)
|
|
|
NM_001278116.2(L1CAM):c.2427G>A (p.Glu809=)
|
|
|
NM_001278116.2(L1CAM):c.2431+10C>T
|
|
|
NM_001278116.2(L1CAM):c.2431+11G>A
|
|
|
NM_001278116.2(L1CAM):c.2431+11G>C
|
|
|
NM_001278116.2(L1CAM):c.2431+16G>C
|
|
|
NM_001278116.2(L1CAM):c.2431+20C>T
|
|
|
NM_001278116.2(L1CAM):c.2475C>A (p.Asn825Lys)
|
|
|
NM_001278116.2(L1CAM):c.2485G>A (p.Val829Met)
|
|
|
NM_001278116.2(L1CAM):c.2501G>A (p.Arg834Gln)
|
|
|
NM_001278116.2(L1CAM):c.2515G>C (p.Ala839Pro)
|
|
|
NM_001278116.2(L1CAM):c.2537G>A (p.Arg846His)
|
rs149737236
|
|
NM_001278116.2(L1CAM):c.2547+12A>C
|
|
|
NM_001278116.2(L1CAM):c.2547+14G>C
|
|
|
NM_001278116.2(L1CAM):c.2547+14G>T
|
|
|
NM_001278116.2(L1CAM):c.2548-10G>A
|
|
|
NM_001278116.2(L1CAM):c.2548-14G>A
|
|
|
NM_001278116.2(L1CAM):c.2548-4G>C
|
|
|
NM_001278116.2(L1CAM):c.2553G>C (p.Thr851=)
|
|
|
NM_001278116.2(L1CAM):c.2562G>A (p.Arg854=)
|
|
|
NM_001278116.2(L1CAM):c.2574G>A (p.Gln858=)
|
|
|
NM_001278116.2(L1CAM):c.2616G>A (p.Val872=)
|
|
|
NM_001278116.2(L1CAM):c.2623G>A (p.Ala875Thr)
|
|
|
NM_001278116.2(L1CAM):c.2627A>G (p.Asn876Ser)
|
|
|
NM_001278116.2(L1CAM):c.2643C>T (p.Ile881=)
|
|
|
NM_001278116.2(L1CAM):c.2676C>T (p.His892=)
|
|
|
NM_001278116.2(L1CAM):c.267G>C (p.Ser89=)
|
|
|
NM_001278116.2(L1CAM):c.267G>T (p.Ser89=)
|
rs782641422
|
|
NM_001278116.2(L1CAM):c.2691C>T (p.Ala897=)
|
|
|
NM_001278116.2(L1CAM):c.269C>T (p.Pro90Leu)
|
|
|
NM_001278116.2(L1CAM):c.2702G>A (p.Arg901Gln)
|
|
|
NM_001278116.2(L1CAM):c.2709G>C (p.Ser903=)
|
rs146224667
|
|
NM_001278116.2(L1CAM):c.270C>G (p.Pro90=)
|
|
|
NM_001278116.2(L1CAM):c.273C>T (p.His91=)
|
|
|
NM_001278116.2(L1CAM):c.2742A>T (p.Pro914=)
|
|
|
NM_001278116.2(L1CAM):c.2749+14C>T
|
|
|
NM_001278116.2(L1CAM):c.2749+16C>T
|
|
|
NM_001278116.2(L1CAM):c.2749+19G>A
|
|
|
NM_001278116.2(L1CAM):c.2749+19G>T
|
|
|
NM_001278116.2(L1CAM):c.2750-20C>T
|
|
|
NM_001278116.2(L1CAM):c.2750-6C>T
|
|
|
NM_001278116.2(L1CAM):c.2750-7C>T
|
|
|
NM_001278116.2(L1CAM):c.2756G>A (p.Gly919Asp)
|
|
|
NM_001278116.2(L1CAM):c.2769G>A (p.Ala923=)
|
|
|
NM_001278116.2(L1CAM):c.2775C>T (p.His925=)
|
|
|
NM_001278116.2(L1CAM):c.2802G>A (p.Leu934=)
|
|
|
NM_001278116.2(L1CAM):c.2809C>T (p.Arg937Cys)
|
|
|
NM_001278116.2(L1CAM):c.2829C>T (p.Ser943=)
|
|
|
NM_001278116.2(L1CAM):c.2835C>T (p.Asn945=)
|
|
|
NM_001278116.2(L1CAM):c.2839G>A (p.Val947Met)
|
|
|
NM_001278116.2(L1CAM):c.2847C>T (p.Thr949=)
|
|
|
NM_001278116.2(L1CAM):c.2872+11C>T
|
|
|
NM_001278116.2(L1CAM):c.2872+12G>A
|
|
|
NM_001278116.2(L1CAM):c.2872+14C>T
|
|
|
NM_001278116.2(L1CAM):c.2872+8C>T
|
|
|
NM_001278116.2(L1CAM):c.2873-13T>C
|
|
|
NM_001278116.2(L1CAM):c.2873-16_2873-15del
|
|
|
NM_001278116.2(L1CAM):c.2873-19C>T
|
|
|
NM_001278116.2(L1CAM):c.2873-4A>G
|
|
|
NM_001278116.2(L1CAM):c.2873-7C>A
|
|
|
NM_001278116.2(L1CAM):c.2877T>G (p.Asp959Glu)
|
|
|
NM_001278116.2(L1CAM):c.2880G>A (p.Glu960=)
|
|
|
NM_001278116.2(L1CAM):c.2892G>A (p.Gly964=)
|
|
|
NM_001278116.2(L1CAM):c.2892G>T (p.Gly964=)
|
|
|
NM_001278116.2(L1CAM):c.2912G>A (p.Arg971Gln)
|
|
|
NM_001278116.2(L1CAM):c.2920G>A (p.Glu974Lys)
|
|
|
NM_001278116.2(L1CAM):c.2927G>A (p.Arg976Gln)
|
|
|
NM_001278116.2(L1CAM):c.2940G>A (p.Leu980=)
|
|
|
NM_001278116.2(L1CAM):c.2942C>T (p.Thr981Ile)
|
|
|
NM_001278116.2(L1CAM):c.2943C>A (p.Thr981=)
|
|
|
NM_001278116.2(L1CAM):c.2943C>T (p.Thr981=)
|
|
|
NM_001278116.2(L1CAM):c.2944G>A (p.Asp982Asn)
|
|
|
NM_001278116.2(L1CAM):c.2985C>T (p.Ala995=)
|
|
|
NM_001278116.2(L1CAM):c.2988C>T (p.Thr996=)
|
rs200863731
|
|
NM_001278116.2(L1CAM):c.3012C>T (p.Ala1004=)
|
|
|
NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln)
|
|
|
NM_001278116.2(L1CAM):c.3039C>T (p.Ala1013=)
|
|
|
NM_001278116.2(L1CAM):c.3046+20T>A
|
rs2148493535
|
|
NM_001278116.2(L1CAM):c.3046+9G>A
|
|
|
NM_001278116.2(L1CAM):c.3048G>A (p.Gly1016=)
|
|
|
NM_001278116.2(L1CAM):c.3048G>C (p.Gly1016=)
|
|
|
NM_001278116.2(L1CAM):c.3056A>G (p.Asp1019Gly)
|
|
|
NM_001278116.2(L1CAM):c.3069C>T (p.Ile1023=)
|
|
|
NM_001278116.2(L1CAM):c.3078A>G (p.Thr1026=)
|
|
|
NM_001278116.2(L1CAM):c.3159C>T (p.Ala1053=)
|
|
|
NM_001278116.2(L1CAM):c.3166+13G>A
|
|
|
NM_001278116.2(L1CAM):c.3166+15G>C
|
|
|
NM_001278116.2(L1CAM):c.3166+16G>A
|
|
|
NM_001278116.2(L1CAM):c.3166+7G>A
|
|
|
NM_001278116.2(L1CAM):c.3167-13C>T
|
|
|
NM_001278116.2(L1CAM):c.3174G>A (p.Lys1058=)
|
|
|
NM_001278116.2(L1CAM):c.317A>G (p.Gln106Arg)
|
|
|
NM_001278116.2(L1CAM):c.3192G>A (p.Ser1064=)
|
|
|
NM_001278116.2(L1CAM):c.3227C>T (p.Thr1076Met)
|
|
|
NM_001278116.2(L1CAM):c.3238C>T (p.Leu1080=)
|
rs1184309171
|
|
NM_001278116.2(L1CAM):c.3254A>G (p.Asp1085Gly)
|
|
|
NM_001278116.2(L1CAM):c.3264C>A (p.Ile1088=)
|
|
|
NM_001278116.2(L1CAM):c.3267C>T (p.His1089=)
|
rs2148493212
|
|
NM_001278116.2(L1CAM):c.3268T>C (p.Leu1090=)
|
|
|
NM_001278116.2(L1CAM):c.3289C>T (p.Arg1097Trp)
|
|
|
NM_001278116.2(L1CAM):c.3296A>G (p.Gln1099Arg)
|
|
|
NM_001278116.2(L1CAM):c.3300G>A (p.Met1100Ile)
|
|
|
NM_001278116.2(L1CAM):c.3322+14G>A
|
|
|
NM_001278116.2(L1CAM):c.3322+7C>T
|
|
|
NM_001278116.2(L1CAM):c.3323-11C>T
|
|
|
NM_001278116.2(L1CAM):c.3323-13G>A
|
|
|
NM_001278116.2(L1CAM):c.3323-14T>C
|
|
|
NM_001278116.2(L1CAM):c.3323-15G>A
|
|
|
NM_001278116.2(L1CAM):c.3323-18C>A
|
|
|
NM_001278116.2(L1CAM):c.3323-19G>A
|
|
|
NM_001278116.2(L1CAM):c.3334C>T (p.Leu1112Phe)
|
|
|
NM_001278116.2(L1CAM):c.3348C>T (p.Gly1116=)
|
|
|
NM_001278116.2(L1CAM):c.3351C>T (p.Phe1117=)
|
|
|
NM_001278116.2(L1CAM):c.3373G>A (p.Gly1125Ser)
|
|
|
NM_001278116.2(L1CAM):c.337C>T (p.Arg113Cys)
|
|
|
NM_001278116.2(L1CAM):c.3396C>T (p.Leu1132=)
|
|
|
NM_001278116.2(L1CAM):c.33C>G (p.Leu11=)
|
rs199910719
|
|
NM_001278116.2(L1CAM):c.3405C>T (p.Leu1135=)
|
|
|
NM_001278116.2(L1CAM):c.3408C>T (p.Val1136=)
|
|
|
NM_001278116.2(L1CAM):c.3414C>T (p.Leu1138=)
|
|
|
NM_001278116.2(L1CAM):c.3432G>A (p.Lys1144=)
|
|
|
NM_001278116.2(L1CAM):c.3435C>A (p.Arg1145=)
|
|
|
NM_001278116.2(L1CAM):c.3457+12G>A
|
|
|
NM_001278116.2(L1CAM):c.3457+13C>T
|
|
|
NM_001278116.2(L1CAM):c.3457+19G>A
|
|
|
NM_001278116.2(L1CAM):c.3458-18C>G
|
|
|
NM_001278116.2(L1CAM):c.3458-8G>A
|
|
|
NM_001278116.2(L1CAM):c.3458-9T>C
|
|
|
NM_001278116.2(L1CAM):c.3474C>T (p.Asp1158=)
|
|
|
NM_001278116.2(L1CAM):c.3477C>A (p.Thr1159=)
|
|
|
NM_001278116.2(L1CAM):c.3477C>G (p.Thr1159=)
|
|
|
NM_001278116.2(L1CAM):c.348C>T (p.Ala116=)
|
|
|
NM_001278116.2(L1CAM):c.3501G>A (p.Pro1167=)
|
|
|
NM_001278116.2(L1CAM):c.3522C>G (p.Gly1174=)
|
|
|
NM_001278116.2(L1CAM):c.3530+11G>A
|
|
|
NM_001278116.2(L1CAM):c.3530+17G>A
|
|
|
NM_001278116.2(L1CAM):c.3530+18T>C
|
|
|
NM_001278116.2(L1CAM):c.3530+7C>T
|
|
|
NM_001278116.2(L1CAM):c.3531-20G>C
|
|
|
NM_001278116.2(L1CAM):c.3542+11G>A
|
|
|
NM_001278116.2(L1CAM):c.3542+11G>T
|
|
|
NM_001278116.2(L1CAM):c.3542+15G>A
|
|
|
NM_001278116.2(L1CAM):c.3543-13T>C
|
|
|
NM_001278116.2(L1CAM):c.3543-14C>G
|
|
|
NM_001278116.2(L1CAM):c.3543-16C>T
|
|
|
NM_001278116.2(L1CAM):c.3543-9C>T
|
|
|
NM_001278116.2(L1CAM):c.3572G>C (p.Ser1191Thr)
|
|
|
NM_001278116.2(L1CAM):c.3582G>A (p.Ser1194=)
|
|
|
NM_001278116.2(L1CAM):c.3588C>A (p.Asn1196Lys)
|
rs782086274
|
|
NM_001278116.2(L1CAM):c.3591G>A (p.Gly1197=)
|
rs2064675485
|
|
NM_001278116.2(L1CAM):c.3606G>A (p.Leu1202=)
|
|
|
NM_001278116.2(L1CAM):c.3618C>T (p.Asp1206=)
|
|
|
NM_001278116.2(L1CAM):c.3627C>T (p.Ala1209=)
|
|
|
NM_001278116.2(L1CAM):c.3639C>T (p.Gly1213=)
|
|
|
NM_001278116.2(L1CAM):c.3648T>C (p.Asp1216=)
|
|
|
NM_001278116.2(L1CAM):c.3657C>T (p.Phe1219=)
|
|
|
NM_001278116.2(L1CAM):c.3663G>A (p.Glu1221=)
|
|
|
NM_001278116.2(L1CAM):c.3675C>T (p.Phe1225=)
|
|
|
NM_001278116.2(L1CAM):c.3681C>A (p.Gly1227=)
|
|
|
NM_001278116.2(L1CAM):c.3693C>A (p.Gly1231=)
|
|
|
NM_001278116.2(L1CAM):c.3698A>G (p.Lys1233Arg)
|
|
|
NM_001278116.2(L1CAM):c.369C>T (p.Ala123=)
|
|
|
NM_001278116.2(L1CAM):c.3702G>A (p.Glu1234=)
|
rs1315137274
|
|
NM_001278116.2(L1CAM):c.3708G>A (p.Glu1236=)
|
|
|
NM_001278116.2(L1CAM):c.370A>G (p.Met124Val)
|
|
|
NM_001278116.2(L1CAM):c.3744C>T (p.Ser1248=)
|
|
|
NM_001278116.2(L1CAM):c.3759C>T (p.Ala1253=)
|
|
|
NM_001278116.2(L1CAM):c.3766C>T (p.Leu1256=)
|
|
|
NM_001278116.2(L1CAM):c.391A>G (p.Met131Val)
|
|
|
NM_001278116.2(L1CAM):c.393G>A (p.Met131Ile)
|
|
|
NM_001278116.2(L1CAM):c.396C>G (p.Ala132=)
|
|
|
NM_001278116.2(L1CAM):c.400+10G>C
|
|
|
NM_001278116.2(L1CAM):c.400+11C>T
|
|
|
NM_001278116.2(L1CAM):c.400+12T>C
|
|
|
NM_001278116.2(L1CAM):c.400+14C>T
|
|
|
NM_001278116.2(L1CAM):c.400+19A>G
|
|
|
NM_001278116.2(L1CAM):c.401-15G>A
|
|
|
NM_001278116.2(L1CAM):c.401-17C>T
|
|
|
NM_001278116.2(L1CAM):c.405C>A (p.Ala135=)
|
|
|
NM_001278116.2(L1CAM):c.405C>T (p.Ala135=)
|
|
|
NM_001278116.2(L1CAM):c.409A>C (p.Lys137Gln)
|
|
|
NM_001278116.2(L1CAM):c.433C>T (p.Pro145Ser)
|
|
|
NM_001278116.2(L1CAM):c.435C>A (p.Pro145=)
|
|
|
NM_001278116.2(L1CAM):c.435C>G (p.Pro145=)
|
|
|
NM_001278116.2(L1CAM):c.444G>T (p.Val148=)
|
|
|
NM_001278116.2(L1CAM):c.447G>A (p.Glu149=)
|
|
|
NM_001278116.2(L1CAM):c.450A>G (p.Glu150=)
|
|
|
NM_001278116.2(L1CAM):c.510C>T (p.Tyr170=)
|
rs2148498993
|
|
NM_001278116.2(L1CAM):c.523+10G>T
|
rs199936251
|
|
NM_001278116.2(L1CAM):c.523+16C>A
|
|
|
NM_001278116.2(L1CAM):c.523+16C>T
|
rs1057523154
|
|
NM_001278116.2(L1CAM):c.523+7G>T
|
|
|
NM_001278116.2(L1CAM):c.524-14C>T
|
|
|
NM_001278116.2(L1CAM):c.524-6C>T
|
|
|
NM_001278116.2(L1CAM):c.524-8C>T
|
|
|
NM_001278116.2(L1CAM):c.524-9C>A
|
|
|
NM_001278116.2(L1CAM):c.550C>A (p.Arg184=)
|
|
|
NM_001278116.2(L1CAM):c.558G>A (p.Thr186=)
|
|
|
NM_001278116.2(L1CAM):c.558G>C (p.Thr186=)
|
rs782773215
|
|
NM_001278116.2(L1CAM):c.585T>C (p.Phe195=)
|
|
|
NM_001278116.2(L1CAM):c.603C>G (p.Ser201=)
|
rs782223025
|
|
NM_001278116.2(L1CAM):c.60C>A (p.Ile20=)
|
|
|
NM_001278116.2(L1CAM):c.633C>T (p.Ala211=)
|
|
|
NM_001278116.2(L1CAM):c.669A>G (p.Glu223=)
|
|
|
NM_001278116.2(L1CAM):c.694+10A>T
|
|
|
NM_001278116.2(L1CAM):c.694+11G>C
|
|
|
NM_001278116.2(L1CAM):c.694+20_694+32del
|
rs781871285
|
|
NM_001278116.2(L1CAM):c.695-14C>A
|
|
|
NM_001278116.2(L1CAM):c.695-19A>C
|
|
|
NM_001278116.2(L1CAM):c.695-19_695-17dup
|
|
|
NM_001278116.2(L1CAM):c.695-8C>T
|
rs782636050
|
|
NM_001278116.2(L1CAM):c.696C>G (p.Thr232=)
|
|
|
NM_001278116.2(L1CAM):c.726G>A (p.Leu242=)
|
rs200813995
|
|
NM_001278116.2(L1CAM):c.735C>T (p.Pro245=)
|
|
|
NM_001278116.2(L1CAM):c.736A>G (p.Thr246Ala)
|
|
|
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr)
|
rs782163019
|
|
NM_001278116.2(L1CAM):c.747C>T (p.Ser249=)
|
|
|
NM_001278116.2(L1CAM):c.76+15G>A
|
|
|
NM_001278116.2(L1CAM):c.76+9C>A
|
|
|
NM_001278116.2(L1CAM):c.77-5C>T
|
|
|
NM_001278116.2(L1CAM):c.774G>A (p.Gln258=)
|
|
|
NM_001278116.2(L1CAM):c.777A>G (p.Pro259=)
|
|
|
NM_001278116.2(L1CAM):c.798C>G (p.Ala266=)
|
|
|
NM_001278116.2(L1CAM):c.799G>A (p.Glu267Lys)
|
|
|
NM_001278116.2(L1CAM):c.804C>A (p.Gly268=)
|
|
|
NM_001278116.2(L1CAM):c.806+10G>C
|
|
|
NM_001278116.2(L1CAM):c.806+14C>A
|
rs782485382
|
|
NM_001278116.2(L1CAM):c.806+15C>T
|
|
|
NM_001278116.2(L1CAM):c.806+16C>G
|
|
|
NM_001278116.2(L1CAM):c.806+20G>A
|
|
|
NM_001278116.2(L1CAM):c.806+20G>T
|
|
|
NM_001278116.2(L1CAM):c.806+8T>A
|
|
|
NM_001278116.2(L1CAM):c.807-16T>G
|
rs2148498075
|
|
NM_001278116.2(L1CAM):c.807-17C>T
|
|
|
NM_001278116.2(L1CAM):c.807-7C>G
|
|
|
NM_001278116.2(L1CAM):c.807-7C>T
|
rs782340959
|
|
NM_001278116.2(L1CAM):c.813G>C (p.Thr271=)
|
|
|
NM_001278116.2(L1CAM):c.816C>T (p.Pro272=)
|
|
|
NM_001278116.2(L1CAM):c.844C>T (p.Pro282Ser)
|
|
|
NM_001278116.2(L1CAM):c.84A>G (p.Gly28=)
|
|
|
NM_001278116.2(L1CAM):c.876C>T (p.Asn292=)
|
|
|
NM_001278116.2(L1CAM):c.882C>T (p.Asn294=)
|
rs2148497959
|
|
NM_001278116.2(L1CAM):c.886A>G (p.Thr296Ala)
|
|
|
NM_001278116.2(L1CAM):c.888C>T (p.Thr296=)
|
|
|
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)
|
|
|
NM_001278116.2(L1CAM):c.900G>A (p.Leu300=)
|
|
|
NM_001278116.2(L1CAM):c.909C>A (p.Gly303=)
|
|
|
NM_001278116.2(L1CAM):c.91+13G>A
|
|
|
NM_001278116.2(L1CAM):c.91+16G>T
|
|
|
NM_001278116.2(L1CAM):c.91+19A>G
|
|
|
NM_001278116.2(L1CAM):c.91+7del
|
|
|
NM_001278116.2(L1CAM):c.92-17C>G
|
|
|
NM_001278116.2(L1CAM):c.92-19C>G
|
|
|
NM_001278116.2(L1CAM):c.92-9T>C
|
|
|
NM_001278116.2(L1CAM):c.931C>T (p.Arg311Cys)
|
|
|
NM_001278116.2(L1CAM):c.942C>T (p.Ala314=)
|
rs1569544829
|
|
NM_001278116.2(L1CAM):c.969T>C (p.His323=)
|
|
|
NM_001278116.2(L1CAM):c.991+8C>A
|
|
|
NM_001278116.2(L1CAM):c.992-10T>C
|
|
|
NM_001278116.2(L1CAM):c.992-14C>T
|
|
|
NM_001278116.2(L1CAM):c.992-5C>G
|
|
|
NM_001278116.2(L1CAM):c.992-9T>C
|
|
|
NM_001278116.2(L1CAM):c.996C>T (p.Ala332=)
|
|
|
NM_001278116.2(L1CAM):c.999G>A (p.Pro333=)
|
|
|
NM_001385875.1(ZFYVE27):c.1038C>T (p.Asn346=)
|
rs929996326
|
|
NM_001385875.1(ZFYVE27):c.1042+11G>A
|
|
|
NM_001385875.1(ZFYVE27):c.1089+11G>A
|
|
|
NM_001385875.1(ZFYVE27):c.1171+9T>A
|
|
|
NM_001385875.1(ZFYVE27):c.18T>C (p.Arg6=)
|
|
|
NM_001385875.1(ZFYVE27):c.234G>C (p.Leu78=)
|
|
|
NM_001385875.1(ZFYVE27):c.315G>C (p.Leu105=)
|
|
|
NM_001385875.1(ZFYVE27):c.360C>G (p.Ser120=)
|
|
|
NM_001385875.1(ZFYVE27):c.456-18A>C
|
|
|
NM_001385875.1(ZFYVE27):c.720G>A (p.Glu240=)
|
|
|
NM_001385875.1(ZFYVE27):c.894G>A (p.Val298=)
|
|
|
NM_001385875.1(ZFYVE27):c.897+12C>G
|
|
|
NM_001385875.1(ZFYVE27):c.909G>A (p.Glu303=)
|
rs753887094
|
|
NM_001478.5(B4GALNT1):c.1003-17A>T
|
|
|
NM_001478.5(B4GALNT1):c.1035T>C (p.Ser345=)
|
|
|
NM_001478.5(B4GALNT1):c.1059G>A (p.Leu353=)
|
rs2140244526
|
|
NM_001478.5(B4GALNT1):c.1101G>T (p.Leu367=)
|
|
|
NM_001478.5(B4GALNT1):c.1143+11G>C
|
|
|
NM_001478.5(B4GALNT1):c.1143+7del
|
|
|
NM_001478.5(B4GALNT1):c.1143+8A>C
|
|
|
NM_001478.5(B4GALNT1):c.1170C>T (p.Ser390=)
|
|
|
NM_001478.5(B4GALNT1):c.123G>T (p.Ala41=)
|
|
|
NM_001478.5(B4GALNT1):c.1272C>A (p.Val424=)
|
|
|
NM_001478.5(B4GALNT1):c.1272C>G (p.Val424=)
|
rs143066025
|
|
NM_001478.5(B4GALNT1):c.1344G>A (p.Glu448=)
|
|
|
NM_001478.5(B4GALNT1):c.1410C>T (p.Ser470=)
|
|
|
NM_001478.5(B4GALNT1):c.1434C>T (p.Asp478=)
|
rs1060504132
|
|
NM_001478.5(B4GALNT1):c.1437C>T (p.Val479=)
|
|
|
NM_001478.5(B4GALNT1):c.1455C>T (p.Ser485=)
|
|
|
NM_001478.5(B4GALNT1):c.1470T>C (p.Pro490=)
|
|
|
NM_001478.5(B4GALNT1):c.1488C>T (p.Ala496=)
|
|
|
NM_001478.5(B4GALNT1):c.1509G>A (p.Arg503=)
|
|
|
NM_001478.5(B4GALNT1):c.1533C>T (p.Asp511=)
|
|
|
NM_001478.5(B4GALNT1):c.1557G>C (p.Arg519=)
|
|
|
NM_001478.5(B4GALNT1):c.201C>A (p.Ile67=)
|
rs2140253666
|
|
NM_001478.5(B4GALNT1):c.218+15C>A
|
|
|
NM_001478.5(B4GALNT1):c.218+19G>A
|
|
|
NM_001478.5(B4GALNT1):c.218+8C>G
|
rs992874980
|
|
NM_001478.5(B4GALNT1):c.218+9_218+15del
|
rs1555186865
|
|
NM_001478.5(B4GALNT1):c.219-8C>G
|
|
|
NM_001478.5(B4GALNT1):c.219-8C>T
|
rs1384962385
|
|
NM_001478.5(B4GALNT1):c.219-9C>T
|
|
|
NM_001478.5(B4GALNT1):c.261G>A (p.Gly87=)
|
|
|
NM_001478.5(B4GALNT1):c.261G>T (p.Gly87=)
|
|
|
NM_001478.5(B4GALNT1):c.264C>G (p.Gly88=)
|
|
|
NM_001478.5(B4GALNT1):c.303C>T (p.Asp101=)
|
rs772156754
|
|
NM_001478.5(B4GALNT1):c.354A>G (p.Arg118=)
|
|
|
NM_001478.5(B4GALNT1):c.384-12C>T
|
|
|
NM_001478.5(B4GALNT1):c.399T>G (p.Ala133=)
|
rs1555186659
|
|
NM_001478.5(B4GALNT1):c.417C>G (p.Ala139=)
|
|
|
NM_001478.5(B4GALNT1):c.447A>T (p.Leu149=)
|
|
|
NM_001478.5(B4GALNT1):c.495G>A (p.Leu165=)
|
|
|
NM_001478.5(B4GALNT1):c.501T>A (p.Leu167=)
|
rs555296589
|
|
NM_001478.5(B4GALNT1):c.512C>T (p.Ser171Phe)
|
rs759353736
|
|
NM_001478.5(B4GALNT1):c.525A>G (p.Val175=)
|
rs772772260
|
|
NM_001478.5(B4GALNT1):c.564C>T (p.Asp188=)
|
|
|
NM_001478.5(B4GALNT1):c.57G>T (p.Ser19=)
|
|
|
NM_001478.5(B4GALNT1):c.591T>G (p.Thr197=)
|
rs946094090
|
|
NM_001478.5(B4GALNT1):c.658C>T (p.Leu220=)
|
rs2140249188
|
|
NM_001478.5(B4GALNT1):c.664C>T (p.Leu222=)
|
|
|
NM_001478.5(B4GALNT1):c.684A>G (p.Arg228=)
|
|
|
NM_001478.5(B4GALNT1):c.712+13G>A
|
|
|
NM_001478.5(B4GALNT1):c.712+17G>T
|
|
|
NM_001478.5(B4GALNT1):c.760A>C (p.Arg254=)
|
rs1230537675
|
|
NM_001478.5(B4GALNT1):c.780G>A (p.Arg260=)
|
|
|
NM_001478.5(B4GALNT1):c.7C>T (p.Leu3=)
|
|
|
NM_001478.5(B4GALNT1):c.811+17C>T
|
|
|
NM_001478.5(B4GALNT1):c.812-12C>T
|
|
|
NM_001478.5(B4GALNT1):c.812-14G>A
|
|
|
NM_001478.5(B4GALNT1):c.812-16G>A
|
|
|
NM_001478.5(B4GALNT1):c.832C>T (p.Leu278=)
|
|
|
NM_001478.5(B4GALNT1):c.849C>T (p.Thr283=)
|
|
|
NM_001478.5(B4GALNT1):c.870T>C (p.Asp290=)
|
|
|
NM_001478.5(B4GALNT1):c.903C>T (p.Arg301=)
|
|
|
NM_001478.5(B4GALNT1):c.912A>G (p.Pro304=)
|
rs1594981439
|
|
NM_001478.5(B4GALNT1):c.957C>T (p.Arg319=)
|
|
|
NM_002156.5(HSPD1):c.1029A>G (p.Gly343=)
|
rs1433866863
|
|
NM_002156.5(HSPD1):c.1059C>T (p.Asp353=)
|
|
|
NM_002156.5(HSPD1):c.1215+17T>A
|
rs1235751492
|
|
NM_002156.5(HSPD1):c.1224G>A (p.Gly408=)
|
|
|
NM_002156.5(HSPD1):c.132A>G (p.Val44=)
|
|
|
NM_002156.5(HSPD1):c.1390+11dup
|
rs2106070845
|
|
NM_002156.5(HSPD1):c.1390+15T>C
|
|
|
NM_002156.5(HSPD1):c.1391-15G>A
|
|
|
NM_002156.5(HSPD1):c.1391-17C>T
|
|
|
NM_002156.5(HSPD1):c.1392T>C (p.Gly464=)
|
|
|
NM_002156.5(HSPD1):c.1434C>T (p.Thr478=)
|
|
|
NM_002156.5(HSPD1):c.1497A>C (p.Ser499=)
|
|
|
NM_002156.5(HSPD1):c.1569+10T>A
|
|
|
NM_002156.5(HSPD1):c.1569+11G>C
|
|
|
NM_002156.5(HSPD1):c.1569+19T>G
|
|
|
NM_002156.5(HSPD1):c.156C>A (p.Ala52=)
|
|
|
NM_002156.5(HSPD1):c.1570-12A>T
|
|
|
NM_002156.5(HSPD1):c.1585T>C (p.Leu529=)
|
|
|
NM_002156.5(HSPD1):c.1612C>T (p.Leu538=)
|
|
|
NM_002156.5(HSPD1):c.1689_1700dup (p.565GGGM[3])
|
rs535634000
|
|
NM_002156.5(HSPD1):c.1701T>C (p.Gly567=)
|
|
|
NM_002156.5(HSPD1):c.174+19T>C
|
rs1398951749
|
|
NM_002156.5(HSPD1):c.174+7G>A
|
|
|
NM_002156.5(HSPD1):c.175-10T>C
|
rs2106079354
|
|
NM_002156.5(HSPD1):c.175-12T>C
|
rs2106079360
|
|
NM_002156.5(HSPD1):c.175-18T>C
|
|
|
NM_002156.5(HSPD1):c.175-48_175-11del
|
|
|
NM_002156.5(HSPD1):c.27C>A (p.Arg9=)
|
rs11551349
|
|
NM_002156.5(HSPD1):c.366T>A (p.Ser122=)
|
|
|
NM_002156.5(HSPD1):c.36A>G (p.Arg12=)
|
|
|
NM_002156.5(HSPD1):c.427+16G>A
|
|
|
NM_002156.5(HSPD1):c.427+9G>A
|
|
|
NM_002156.5(HSPD1):c.428-20G>A
|
|
|
NM_002156.5(HSPD1):c.477T>C (p.Ser159=)
|
rs1333403005
|
|
NM_002156.5(HSPD1):c.510+11_510+15del
|
|
|
NM_002156.5(HSPD1):c.510+14A>C
|
|
|
NM_002156.5(HSPD1):c.510+20C>A
|
|
|
NM_002156.5(HSPD1):c.510+20C>T
|
|
|
NM_002156.5(HSPD1):c.510+8C>T
|
rs553299722
|
|
NM_002156.5(HSPD1):c.576A>G (p.Lys192=)
|
|
|
NM_002156.5(HSPD1):c.594C>T (p.Val198=)
|
|
|
NM_002156.5(HSPD1):c.606+5GT[2]
|
|
|
NM_002156.5(HSPD1):c.607-7T>C
|
|
|
NM_002156.5(HSPD1):c.663A>C (p.Arg221=)
|
|
|
NM_002156.5(HSPD1):c.678A>G (p.Pro226=)
|
|
|
NM_002156.5(HSPD1):c.6T>A (p.Leu2=)
|
rs2106081166
|
|
NM_002156.5(HSPD1):c.700+15A>G
|
|
|
NM_002156.5(HSPD1):c.858C>T (p.Leu286=)
|
|
|
NM_002156.5(HSPD1):c.869+10A>T
|
|
|
NM_002156.5(HSPD1):c.869+18T>C
|
|
|
NM_002156.5(HSPD1):c.869+8G>C
|
|
|
NM_002156.5(HSPD1):c.924T>C (p.Asn308=)
|
|
|
NM_002156.5(HSPD1):c.969+17T>A
|
|
|
NM_002156.5(HSPD1):c.969+18G>A
|
|
|
NM_002156.5(HSPD1):c.970-16T>G
|
|
|
NM_002156.5(HSPD1):c.970-9T>C
|
|
|
NM_002156.5(HSPD1):c.994C>T (p.Leu332=)
|
|
|
NM_004187.5(KDM5C):c.1044C>T (p.Asn348=)
|
rs1556850817
|
|
NM_004187.5(KDM5C):c.1077T>G (p.Pro359=)
|
|
|
NM_004187.5(KDM5C):c.1095C>A (p.Val365=)
|
rs782322479
|
|
NM_004187.5(KDM5C):c.1122+14A>T
|
rs1556850730
|
|
NM_004187.5(KDM5C):c.1123-12T>A
|
|
|
NM_004187.5(KDM5C):c.1140A>G (p.Pro380=)
|
|
|
NM_004187.5(KDM5C):c.1242+10G>A
|
|
|
NM_004187.5(KDM5C):c.1242+18G>A
|
|
|
NM_004187.5(KDM5C):c.1243-5C>T
|
|
|
NM_004187.5(KDM5C):c.1389C>A (p.Thr463=)
|
|
|
NM_004187.5(KDM5C):c.1392C>G (p.Pro464=)
|
|
|
NM_004187.5(KDM5C):c.1401+14del
|
rs2073556482
|
|
NM_004187.5(KDM5C):c.1476A>G (p.Ala492=)
|
|
|
NM_004187.5(KDM5C):c.150+10G>A
|
|
|
NM_004187.5(KDM5C):c.150+16G>T
|
|
|
NM_004187.5(KDM5C):c.1500C>G (p.Pro500=)
|
|
|
NM_004187.5(KDM5C):c.151-18C>T
|
|
|
NM_004187.5(KDM5C):c.1578C>A (p.Leu526=)
|
|
|
NM_004187.5(KDM5C):c.1653G>A (p.Lys551=)
|
|
|
NM_004187.5(KDM5C):c.1668A>G (p.Leu556=)
|
|
|
NM_004187.5(KDM5C):c.1680G>A (p.Gln560=)
|
|
|
NM_004187.5(KDM5C):c.1689C>T (p.Leu563=)
|
|
|
NM_004187.5(KDM5C):c.1746+10C>T
|
|
|
NM_004187.5(KDM5C):c.1747-20T>C
|
|
|
NM_004187.5(KDM5C):c.1749T>G (p.Val583=)
|
rs1388314061
|
|
NM_004187.5(KDM5C):c.1785C>T (p.Ile595=)
|
|
|
NM_004187.5(KDM5C):c.1914A>G (p.Arg638=)
|
|
|
NM_004187.5(KDM5C):c.197C>T (p.Thr66Ile)
|
|
|
NM_004187.5(KDM5C):c.2004G>A (p.Lys668=)
|
|
|
NM_004187.5(KDM5C):c.2062-15G>T
|
rs2146853123
|
|
NM_004187.5(KDM5C):c.2062-9T>C
|
|
|
NM_004187.5(KDM5C):c.2139G>A (p.Thr713=)
|
|
|
NM_004187.5(KDM5C):c.2160C>T (p.Ala720=)
|
|
|
NM_004187.5(KDM5C):c.2175A>G (p.Pro725=)
|
|
|
NM_004187.5(KDM5C):c.2280G>A (p.Leu760=)
|
|
|
NM_004187.5(KDM5C):c.2368+10G>T
|
|
|
NM_004187.5(KDM5C):c.2368+16G>T
|
|
|
NM_004187.5(KDM5C):c.2368+7G>A
|
rs1242109640
|
|
NM_004187.5(KDM5C):c.2368+9dup
|
|
|
NM_004187.5(KDM5C):c.237G>A (p.Thr79=)
|
|
|
NM_004187.5(KDM5C):c.2386G>A (p.Ala796Thr)
|
|
|
NM_004187.5(KDM5C):c.2517-9A>C
|
rs1602172992
|
|
NM_004187.5(KDM5C):c.2547C>A (p.Thr849=)
|
|
|
NM_004187.5(KDM5C):c.2586C>T (p.Asn862=)
|
|
|
NM_004187.5(KDM5C):c.2622+14G>C
|
|
|
NM_004187.5(KDM5C):c.2622+15A>G
|
|
|
NM_004187.5(KDM5C):c.2622+8C>T
|
|
|
NM_004187.5(KDM5C):c.2622+9G>A
|
|
|
NM_004187.5(KDM5C):c.2623-18C>T
|
|
|
NM_004187.5(KDM5C):c.2745G>A (p.Val915=)
|
rs1440517448
|
|
NM_004187.5(KDM5C):c.2763C>A (p.Leu921=)
|
|
|
NM_004187.5(KDM5C):c.2784G>A (p.Ala928=)
|
|
|
NM_004187.5(KDM5C):c.27A>T (p.Leu9=)
|
rs782623346
|
|
NM_004187.5(KDM5C):c.2817C>T (p.Ala939=)
|
|
|
NM_004187.5(KDM5C):c.2835C>T (p.Gly945=)
|
|
|
NM_004187.5(KDM5C):c.2838C>T (p.Thr946=)
|
|
|
NM_004187.5(KDM5C):c.2851C>A (p.Arg951=)
|
|
|
NM_004187.5(KDM5C):c.2865C>T (p.Val955=)
|
|
|
NM_004187.5(KDM5C):c.2919G>A (p.Leu973=)
|
rs1934884363
|
|
NM_004187.5(KDM5C):c.2934C>A (p.Thr978=)
|
|
|
NM_004187.5(KDM5C):c.2981+12T>C
|
|
|
NM_004187.5(KDM5C):c.3066C>G (p.Leu1022=)
|
|
|
NM_004187.5(KDM5C):c.3088C>T (p.Arg1030Trp)
|
rs782388435
|
|
NM_004187.5(KDM5C):c.3121-14G>A
|
|
|
NM_004187.5(KDM5C):c.3183A>G (p.Leu1061=)
|
|
|
NM_004187.5(KDM5C):c.3276A>G (p.Lys1092=)
|
rs1230365386
|
|
NM_004187.5(KDM5C):c.3300+19A>C
|
rs1227471798
|
|
NM_004187.5(KDM5C):c.3301-17T>C
|
|
|
NM_004187.5(KDM5C):c.3301-22CT[2]
|
|
|
NM_004187.5(KDM5C):c.3367C>T (p.Leu1123=)
|
|
|
NM_004187.5(KDM5C):c.3372G>A (p.Gly1124=)
|
|
|
NM_004187.5(KDM5C):c.3387C>T (p.Asp1129=)
|
|
|
NM_004187.5(KDM5C):c.3402G>A (p.Gly1134=)
|
|
|
NM_004187.5(KDM5C):c.3439-16G>A
|
|
|
NM_004187.5(KDM5C):c.3490C>T (p.Leu1164=)
|
rs2146823630
|
|
NM_004187.5(KDM5C):c.3498C>G (p.Arg1166=)
|
|
|
NM_004187.5(KDM5C):c.3507G>A (p.Ser1169=)
|
|
|
NM_004187.5(KDM5C):c.352-12T>G
|
|
|
NM_004187.5(KDM5C):c.3534G>C (p.Ser1178=)
|
|
|
NM_004187.5(KDM5C):c.3591G>A (p.Ala1197=)
|
|
|
NM_004187.5(KDM5C):c.3660C>G (p.Leu1220=)
|
rs373545419
|
|
NM_004187.5(KDM5C):c.3669G>A (p.Pro1223=)
|
rs2146822099
|
|
NM_004187.5(KDM5C):c.3675C>T (p.Pro1225=)
|
|
|
NM_004187.5(KDM5C):c.3722A>G (p.Lys1241Arg)
|
|
|
NM_004187.5(KDM5C):c.3736C>T (p.Leu1246=)
|
|
|
NM_004187.5(KDM5C):c.3777G>A (p.Leu1259=)
|
|
|
NM_004187.5(KDM5C):c.3780A>G (p.Ala1260=)
|
|
|
NM_004187.5(KDM5C):c.3814C>T (p.Leu1272=)
|
|
|
NM_004187.5(KDM5C):c.381T>C (p.Ala127=)
|
rs1602230535
|
|
NM_004187.5(KDM5C):c.3855C>T (p.Ala1285=)
|
|
|
NM_004187.5(KDM5C):c.3858C>T (p.Ile1286=)
|
|
|
NM_004187.5(KDM5C):c.3903G>A (p.Val1301=)
|
|
|
NM_004187.5(KDM5C):c.3918A>G (p.Gly1306=)
|
rs1602161271
|
|
NM_004187.5(KDM5C):c.3930G>A (p.Glu1310=)
|
|
|
NM_004187.5(KDM5C):c.3945A>G (p.Leu1315=)
|
|
|
NM_004187.5(KDM5C):c.3954A>G (p.Glu1318=)
|
|
|
NM_004187.5(KDM5C):c.4038+7T>C
|
|
|
NM_004187.5(KDM5C):c.4039-17C>G
|
|
|
NM_004187.5(KDM5C):c.4095G>A (p.Pro1365=)
|
|
|
NM_004187.5(KDM5C):c.4103G>C (p.Gly1368Ala)
|
|
|
NM_004187.5(KDM5C):c.4118-14C>T
|
|
|
NM_004187.5(KDM5C):c.4218G>C (p.Gly1406=)
|
|
|
NM_004187.5(KDM5C):c.423C>T (p.Leu141=)
|
|
|
NM_004187.5(KDM5C):c.4317+20G>A
|
|
|
NM_004187.5(KDM5C):c.4317+5dup
|
rs1368038420
|
|
NM_004187.5(KDM5C):c.4338C>T (p.His1446=)
|
rs797044695
|
|
NM_004187.5(KDM5C):c.4381C>T (p.Arg1461Trp)
|
|
|
NM_004187.5(KDM5C):c.4386G>A (p.Lys1462=)
|
|
|
NM_004187.5(KDM5C):c.4473G>A (p.Glu1491=)
|
rs2146812324
|
|
NM_004187.5(KDM5C):c.4494G>A (p.Leu1498=)
|
|
|
NM_004187.5(KDM5C):c.4524T>C (p.Pro1508=)
|
|
|
NM_004187.5(KDM5C):c.4562A>G (p.Glu1521Gly)
|
|
|
NM_004187.5(KDM5C):c.456G>A (p.Leu152=)
|
rs1602230357
|
|
NM_004187.5(KDM5C):c.4629G>A (p.Leu1543=)
|
rs1407999728
|
|
NM_004187.5(KDM5C):c.471C>T (p.Tyr157=)
|
|
|
NM_004187.5(KDM5C):c.522+7A>C
|
rs374455833
|
|
NM_004187.5(KDM5C):c.585C>T (p.Ile195=)
|
|
|
NM_004187.5(KDM5C):c.589C>T (p.Leu197=)
|
|
|
NM_004187.5(KDM5C):c.657+11C>T
|
|
|
NM_004187.5(KDM5C):c.6G>A (p.Glu2=)
|
|
|
NM_004187.5(KDM5C):c.807C>A (p.Pro269=)
|
|
|
NM_004187.5(KDM5C):c.807C>G (p.Pro269=)
|
|
|
NM_004187.5(KDM5C):c.807C>T (p.Pro269=)
|
rs1415151995
|
|
NM_004187.5(KDM5C):c.817G>T (p.Val273Leu)
|
|
|
NM_004187.5(KDM5C):c.96G>A (p.Ala32=)
|
|
|
NM_004733.4(SLC33A1):c.1042T>C (p.Leu348=)
|
|
|
NM_004733.4(SLC33A1):c.1063T>C (p.Leu355=)
|
|
|
NM_004733.4(SLC33A1):c.1089C>A (p.Ile363=)
|
rs780161061
|
|
NM_004733.4(SLC33A1):c.1131C>T (p.Tyr377=)
|
|
|
NM_004733.4(SLC33A1):c.1161G>A (p.Gly387=)
|
rs765123473
|
|
NM_004733.4(SLC33A1):c.1176A>T (p.Leu392=)
|
rs1192897708
|
|
NM_004733.4(SLC33A1):c.1266+9G>C
|
rs878854744
|
|
NM_004733.4(SLC33A1):c.1267-15T>C
|
|
|
NM_004733.4(SLC33A1):c.1278C>T (p.Tyr426=)
|
|
|
NM_004733.4(SLC33A1):c.1362C>T (p.Thr454=)
|
|
|
NM_004733.4(SLC33A1):c.1413A>G (p.Val471=)
|
rs2109304787
|
|
NM_004733.4(SLC33A1):c.1425A>C (p.Thr475=)
|
rs777226978
|
|
NM_004733.4(SLC33A1):c.1530T>C (p.Tyr510=)
|
rs1752271816
|
|
NM_004733.4(SLC33A1):c.1560T>C (p.Ile520=)
|
|
|
NM_004733.4(SLC33A1):c.1587T>A (p.Gly529=)
|
|
|
NM_004733.4(SLC33A1):c.1596T>C (p.Phe532=)
|
rs2109302264
|
|
NM_004733.4(SLC33A1):c.1599A>G (p.Lys533=)
|
|
|
NM_004733.4(SLC33A1):c.162G>A (p.Gly54=)
|
|
|
NM_004733.4(SLC33A1):c.231A>C (p.Leu77=)
|
|
|
NM_004733.4(SLC33A1):c.265C>T (p.Leu89=)
|
|
|
NM_004733.4(SLC33A1):c.27C>T (p.Asp9=)
|
|
|
NM_004733.4(SLC33A1):c.381G>A (p.Pro127=)
|
|
|
NM_004733.4(SLC33A1):c.477C>T (p.Ser159=)
|
|
|
NM_004733.4(SLC33A1):c.48A>G (p.Pro16=)
|
|
|
NM_004733.4(SLC33A1):c.576T>C (p.Thr192=)
|
|
|
NM_004733.4(SLC33A1):c.627T>C (p.Asn209=)
|
|
|
NM_004733.4(SLC33A1):c.636T>C (p.Tyr212=)
|
|
|
NM_004733.4(SLC33A1):c.711T>G (p.Ser237=)
|
|
|
NM_004733.4(SLC33A1):c.714C>T (p.Ala238=)
|
|
|
NM_004733.4(SLC33A1):c.729A>G (p.Lys243=)
|
|
|
NM_004733.4(SLC33A1):c.776-13A>C
|
rs2107981378
|
|
NM_004733.4(SLC33A1):c.776-9C>T
|
|
|
NM_004733.4(SLC33A1):c.819A>G (p.Thr273=)
|
|
|
NM_004733.4(SLC33A1):c.87C>T (p.Pro29=)
|
rs2108019199
|
|
NM_004733.4(SLC33A1):c.936A>G (p.Thr312=)
|
rs1261159113
|
|
NM_004733.4(SLC33A1):c.964-1702_964-1701del
|
|
|
NM_004820.5(CYP7B1):c.1026C>T (p.Thr342=)
|
|
|
NM_004820.5(CYP7B1):c.1027A>C (p.Arg343=)
|
|
|
NM_004820.5(CYP7B1):c.1035A>G (p.Gln345=)
|
|
|
NM_004820.5(CYP7B1):c.1057+10_1057+15del
|
|
|
NM_004820.5(CYP7B1):c.1057+14A>G
|
rs1554584165
|
|
NM_004820.5(CYP7B1):c.1057+15T>C
|
|
|
NM_004820.5(CYP7B1):c.1057+8A>C
|
|
|
NM_004820.5(CYP7B1):c.1058-15_1058-14insC
|
rs1183782292
|
|
NM_004820.5(CYP7B1):c.1058-19G>A
|
rs529157743
|
|
NM_004820.5(CYP7B1):c.1058-19G>C
|
rs529157743
|
|
NM_004820.5(CYP7B1):c.1058-20C>T
|
|
|
NM_004820.5(CYP7B1):c.1058-6C>T
|
|
|
NM_004820.5(CYP7B1):c.1058-7C>T
|
|
|
NM_004820.5(CYP7B1):c.1058-8T>C
|
|
|
NM_004820.5(CYP7B1):c.1058-8del
|
rs764062133
|
|
NM_004820.5(CYP7B1):c.1058-9T>C
|
|
|
NM_004820.5(CYP7B1):c.105G>A (p.Leu35=)
|
rs1563432681
|
|
NM_004820.5(CYP7B1):c.1080A>G (p.Leu360=)
|
rs2129629946
|
|
NM_004820.5(CYP7B1):c.108T>A (p.Leu36=)
|
|
|
NM_004820.5(CYP7B1):c.1104C>G (p.Thr368=)
|
|
|
NM_004820.5(CYP7B1):c.111C>G (p.Val37=)
|
|
|
NM_004820.5(CYP7B1):c.111C>T (p.Val37=)
|
|
|
NM_004820.5(CYP7B1):c.1134C>T (p.Leu378=)
|
|
|
NM_004820.5(CYP7B1):c.1140A>G (p.Ser380=)
|
rs1805253004
|
|
NM_004820.5(CYP7B1):c.114G>T (p.Arg38=)
|
|
|
NM_004820.5(CYP7B1):c.117C>A (p.Arg39=)
|
|
|
NM_004820.5(CYP7B1):c.1188T>C (p.Phe396=)
|
|
|
NM_004820.5(CYP7B1):c.1191T>A (p.Pro397=)
|
|
|
NM_004820.5(CYP7B1):c.1191T>G (p.Pro397=)
|
|
|
NM_004820.5(CYP7B1):c.1197C>A (p.Val399=)
|
|
|
NM_004820.5(CYP7B1):c.1197C>T (p.Val399=)
|
|
|
NM_004820.5(CYP7B1):c.1209C>T (p.Asp403=)
|
|
|
NM_004820.5(CYP7B1):c.120C>T (p.Thr40=)
|
|
|
NM_004820.5(CYP7B1):c.122+10T>G
|
|
|
NM_004820.5(CYP7B1):c.122+11C>T
|
rs188892701
|
|
NM_004820.5(CYP7B1):c.122+12G>T
|
|
|
NM_004820.5(CYP7B1):c.122+13G>C
|
|
|
NM_004820.5(CYP7B1):c.122+17C>T
|
|
|
NM_004820.5(CYP7B1):c.122+18C>T
|
|
|
NM_004820.5(CYP7B1):c.122+19A>G
|
|
|
NM_004820.5(CYP7B1):c.122+19_122+45del
|
rs1487147780
|
|
NM_004820.5(CYP7B1):c.122+7G>T
|
|
|
NM_004820.5(CYP7B1):c.122+8C>A
|
|
|
NM_004820.5(CYP7B1):c.1224A>G (p.Glu408=)
|
|
|
NM_004820.5(CYP7B1):c.123-16T>A
|
|
|
NM_004820.5(CYP7B1):c.123-17T>C
|
|
|
NM_004820.5(CYP7B1):c.123-4G>A
|
|
|
NM_004820.5(CYP7B1):c.123-9T>C
|
|
|
NM_004820.5(CYP7B1):c.1233+10C>T
|
|
|
NM_004820.5(CYP7B1):c.1233+13C>T
|
|
|
NM_004820.5(CYP7B1):c.1233+16G>C
|
|
|
NM_004820.5(CYP7B1):c.1233+9A>T
|
|
|
NM_004820.5(CYP7B1):c.1234-10T>G
|
|
|
NM_004820.5(CYP7B1):c.1234-14A>G
|
|
|
NM_004820.5(CYP7B1):c.1234-6T>A
|
|
|
NM_004820.5(CYP7B1):c.1234-6T>G
|
|
|
NM_004820.5(CYP7B1):c.1234-8C>T
|
rs944718272
|
|
NM_004820.5(CYP7B1):c.1260A>G (p.Glu420=)
|
|
|
NM_004820.5(CYP7B1):c.1263T>C (p.Asp421=)
|
|
|
NM_004820.5(CYP7B1):c.1291A>C (p.Arg431=)
|
|
|
NM_004820.5(CYP7B1):c.12A>G (p.Glu4=)
|
|
|
NM_004820.5(CYP7B1):c.1323G>T (p.Pro441=)
|
rs201281307
|
|
NM_004820.5(CYP7B1):c.1326T>C (p.Phe442=)
|
|
|
NM_004820.5(CYP7B1):c.1332T>C (p.Thr444=)
|
|
|
NM_004820.5(CYP7B1):c.1344A>G (p.Lys448=)
|
|
|
NM_004820.5(CYP7B1):c.1365A>C (p.Ala455=)
|
|
|
NM_004820.5(CYP7B1):c.1389G>A (p.Leu463=)
|
|
|
NM_004820.5(CYP7B1):c.1407T>C (p.Tyr469=)
|
|
|
NM_004820.5(CYP7B1):c.1434G>A (p.Lys478=)
|
|
|
NM_004820.5(CYP7B1):c.1437C>T (p.Pro479=)
|
|
|
NM_004820.5(CYP7B1):c.1449C>T (p.Asn483=)
|
|
|
NM_004820.5(CYP7B1):c.1452C>T (p.Tyr484=)
|
|
|
NM_004820.5(CYP7B1):c.177C>G (p.Val59=)
|
rs763202430
|
|
NM_004820.5(CYP7B1):c.177C>T (p.Val59=)
|
|
|
NM_004820.5(CYP7B1):c.183C>T (p.Asn61=)
|
|
|
NM_004820.5(CYP7B1):c.189A>G (p.Arg63=)
|
|
|
NM_004820.5(CYP7B1):c.192A>G (p.Lys64=)
|
|
|
NM_004820.5(CYP7B1):c.198C>T (p.Pro66=)
|
|
|
NM_004820.5(CYP7B1):c.228A>G (p.Gln76=)
|
|
|
NM_004820.5(CYP7B1):c.246A>G (p.Thr82=)
|
|
|
NM_004820.5(CYP7B1):c.24C>T (p.Ala8=)
|
|
|
NM_004820.5(CYP7B1):c.259+10A>T
|
|
|
NM_004820.5(CYP7B1):c.259+14C>T
|
|
|
NM_004820.5(CYP7B1):c.259+20A>G
|
|
|
NM_004820.5(CYP7B1):c.260-10T>G
|
|
|
NM_004820.5(CYP7B1):c.260-15_260-14insC
|
|
|
NM_004820.5(CYP7B1):c.260-16_260-13del
|
rs775016278
|
|
NM_004820.5(CYP7B1):c.260-18C>G
|
|
|
NM_004820.5(CYP7B1):c.260-20C>G
|
|
|
NM_004820.5(CYP7B1):c.260-22CT[2]
|
rs768562143
|
|
NM_004820.5(CYP7B1):c.260-22CT[3]
|
|
|
NM_004820.5(CYP7B1):c.260-5T>C
|
|
|
NM_004820.5(CYP7B1):c.261A>C (p.Gly87=)
|
|
|
NM_004820.5(CYP7B1):c.264G>A (p.Lys88=)
|
|
|
NM_004820.5(CYP7B1):c.273A>G (p.Thr91=)
|
|
|
NM_004820.5(CYP7B1):c.280C>T (p.Leu94=)
|
|
|
NM_004820.5(CYP7B1):c.294G>A (p.Gln98=)
|
|
|
NM_004820.5(CYP7B1):c.297C>T (p.Tyr99=)
|
|
|
NM_004820.5(CYP7B1):c.301C>T (p.Leu101=)
|
|
|
NM_004820.5(CYP7B1):c.330C>T (p.Ser110=)
|
|
|
NM_004820.5(CYP7B1):c.33C>T (p.Arg11=)
|
|
|
NM_004820.5(CYP7B1):c.348T>C (p.Asn116=)
|
|
|
NM_004820.5(CYP7B1):c.381G>A (p.Gln127=)
|
|
|
NM_004820.5(CYP7B1):c.39G>A (p.Ser13=)
|
|
|
NM_004820.5(CYP7B1):c.405T>C (p.Asn135=)
|
|
|
NM_004820.5(CYP7B1):c.429A>G (p.Gln143=)
|
|
|
NM_004820.5(CYP7B1):c.456A>C (p.Ile152=)
|
|
|
NM_004820.5(CYP7B1):c.462G>A (p.Leu154=)
|
|
|
NM_004820.5(CYP7B1):c.46C>A (p.Arg16=)
|
|
|
NM_004820.5(CYP7B1):c.486A>G (p.Lys162=)
|
|
|
NM_004820.5(CYP7B1):c.48G>C (p.Arg16=)
|
|
|
NM_004820.5(CYP7B1):c.507G>A (p.Leu169=)
|
|
|
NM_004820.5(CYP7B1):c.531G>A (p.Thr177=)
|
|
|
NM_004820.5(CYP7B1):c.540G>C (p.Leu180=)
|
rs2129630211
|
|
NM_004820.5(CYP7B1):c.555C>T (p.Ser185=)
|
|
|
NM_004820.5(CYP7B1):c.573C>A (p.Ile191=)
|
rs1245820259
|
|
NM_004820.5(CYP7B1):c.573C>T (p.Ile191=)
|
|
|
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)
|
rs537303950
|
|
NM_004820.5(CYP7B1):c.60G>A (p.Pro20=)
|
|
|
NM_004820.5(CYP7B1):c.618C>T (p.Asn206=)
|
rs2129630208
|
|
NM_004820.5(CYP7B1):c.642T>C (p.Asp214=)
|
|
|
NM_004820.5(CYP7B1):c.675T>C (p.Tyr225=)
|
|
|
NM_004820.5(CYP7B1):c.681A>G (p.Val227=)
|
|
|
NM_004820.5(CYP7B1):c.684C>A (p.Ser228=)
|
|
|
NM_004820.5(CYP7B1):c.69C>G (p.Ala23=)
|
|
|
NM_004820.5(CYP7B1):c.705A>G (p.Leu235=)
|
|
|
NM_004820.5(CYP7B1):c.711T>C (p.Asn237=)
|
|
|
NM_004820.5(CYP7B1):c.720T>C (p.Ser240=)
|
|
|
NM_004820.5(CYP7B1):c.72C>A (p.Leu24=)
|
|
|
NM_004820.5(CYP7B1):c.744C>T (p.Cys248=)
|
|
|
NM_004820.5(CYP7B1):c.762A>G (p.Leu254=)
|
|
|
NM_004820.5(CYP7B1):c.78G>A (p.Ala26=)
|
|
|
NM_004820.5(CYP7B1):c.78G>C (p.Ala26=)
|
|
|
NM_004820.5(CYP7B1):c.78G>T (p.Ala26=)
|
rs953886480
|
|
NM_004820.5(CYP7B1):c.825T>C (p.Tyr275=)
|
|
|
NM_004820.5(CYP7B1):c.831C>T (p.His277=)
|
|
|
NM_004820.5(CYP7B1):c.850+13G>A
|
rs2129630187
|
|
NM_004820.5(CYP7B1):c.850+16T>G
|
|
|
NM_004820.5(CYP7B1):c.850+17G>C
|
|
|
NM_004820.5(CYP7B1):c.850+17G>T
|
|
|
NM_004820.5(CYP7B1):c.850+7A>C
|
|
|
NM_004820.5(CYP7B1):c.851-13T>C
|
|
|
NM_004820.5(CYP7B1):c.851-15C>A
|
|
|
NM_004820.5(CYP7B1):c.851-6T>G
|
|
|
NM_004820.5(CYP7B1):c.851-7C>T
|
|
|
NM_004820.5(CYP7B1):c.858T>C (p.His286=)
|
|
|
NM_004820.5(CYP7B1):c.870C>G (p.Leu290=)
|
|
|
NM_004820.5(CYP7B1):c.87G>A (p.Leu29=)
|
|
|
NM_004820.5(CYP7B1):c.891T>A (p.Thr297=)
|
rs1285033250
|
|
NM_004820.5(CYP7B1):c.891T>C (p.Thr297=)
|
|
|
NM_004820.5(CYP7B1):c.91C>T (p.Leu31=)
|
rs1804746809
|
|
NM_004820.5(CYP7B1):c.924T>G (p.Leu308=)
|
rs754533279
|
|
NM_004820.5(CYP7B1):c.933C>T (p.His311=)
|
|
|
NM_004820.5(CYP7B1):c.942T>C (p.Ala314=)
|
|
|
NM_004820.5(CYP7B1):c.957T>C (p.Arg319=)
|
rs886063073
|
|
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=)
|
rs1045912447
|
|
NM_004820.5(CYP7B1):c.96C>G (p.Ala32=)
|
|
|
NM_004820.5(CYP7B1):c.970C>T (p.Arg324Cys)
|
rs773055558
|
|
NM_004820.5(CYP7B1):c.978G>A (p.Leu326=)
|
|
|
NM_004820.5(CYP7B1):c.987A>C (p.Thr329=)
|
|
|
NM_004820.5(CYP7B1):c.9A>G (p.Gly3=)
|
|
|
NM_004820.5(CYP7B1):c.9A>T (p.Gly3=)
|
|
|
NM_004984.4(KIF5A):c.1029G>A (p.Lys343=)
|
|
|
NM_004984.4(KIF5A):c.1047G>A (p.Glu349=)
|
|
|
NM_004984.4(KIF5A):c.1080T>C (p.Ile360=)
|
|
|
NM_004984.4(KIF5A):c.1117+7G>A
|
|
|
NM_004984.4(KIF5A):c.1117+9G>A
|
|
|
NM_004984.4(KIF5A):c.1118-12G>T
|
rs2140163551
|
|
NM_004984.4(KIF5A):c.1118-15C>T
|
|
|
NM_004984.4(KIF5A):c.1118-17G>A
|
|
|
NM_004984.4(KIF5A):c.1118-18C>G
|
|
|
NM_004984.4(KIF5A):c.1118-18C>T
|
|
|
NM_004984.4(KIF5A):c.1128G>A (p.Val376=)
|
rs2140163565
|
|
NM_004984.4(KIF5A):c.1134G>A (p.Glu378=)
|
rs1306333808
|
|
NM_004984.4(KIF5A):c.1144C>T (p.Leu382=)
|
|
|
NM_004984.4(KIF5A):c.1158G>A (p.Glu386=)
|
rs2140163611
|
|
NM_004984.4(KIF5A):c.1165C>T (p.Leu389=)
|
|
|
NM_004984.4(KIF5A):c.1176G>C (p.Glu392Asp)
|
rs75907338
|
|
NM_004984.4(KIF5A):c.118G>A (p.Val40Ile)
|
rs1565690660
|
|
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=)
|
rs1064797169
|
|
NM_004984.4(KIF5A):c.1194T>C (p.Pro398=)
|
|
|
NM_004984.4(KIF5A):c.1194T>G (p.Pro398=)
|
|
|
NM_004984.4(KIF5A):c.1206C>T (p.Asn402=)
|
|
|
NM_004984.4(KIF5A):c.120C>A (p.Val40=)
|
|
|
NM_004984.4(KIF5A):c.1215C>T (p.Ile405=)
|
rs267603611
|
|
NM_004984.4(KIF5A):c.1229C>T (p.Ala410Val)
|
|
|
NM_004984.4(KIF5A):c.1230G>T (p.Ala410=)
|
|
|
NM_004984.4(KIF5A):c.1233C>A (p.Pro411=)
|
|
|
NM_004984.4(KIF5A):c.1233C>G (p.Pro411=)
|
rs757235645
|
|
NM_004984.4(KIF5A):c.1242G>A (p.Arg414=)
|
|
|
NM_004984.4(KIF5A):c.124A>G (p.Ile42Val)
|
|
|
NM_004984.4(KIF5A):c.1265G>A (p.Arg422His)
|
|
|
NM_004984.4(KIF5A):c.1267C>T (p.Arg423Cys)
|
|
|
NM_004984.4(KIF5A):c.1284T>C (p.Leu428=)
|
|
|
NM_004984.4(KIF5A):c.129+10G>T
|
rs1881532622
|
|
NM_004984.4(KIF5A):c.129+11C>G
|
|
|
NM_004984.4(KIF5A):c.129+18G>A
|
|
|
NM_004984.4(KIF5A):c.1290C>G (p.Asp430Glu)
|
|
|
NM_004984.4(KIF5A):c.1293+12C>T
|
|
|
NM_004984.4(KIF5A):c.1293+7G>A
|
|
|
NM_004984.4(KIF5A):c.1293+8C>A
|
rs776493530
|
|
NM_004984.4(KIF5A):c.1294-10C>T
|
|
|
NM_004984.4(KIF5A):c.130-14T>C
|
rs2140158725
|
|
NM_004984.4(KIF5A):c.130-16T>C
|
|
|
NM_004984.4(KIF5A):c.1308C>T (p.Asn436=)
|
rs2140164720
|
|
NM_004984.4(KIF5A):c.1317C>T (p.Ser439=)
|
|
|
NM_004984.4(KIF5A):c.1362+10G>C
|
|
|
NM_004984.4(KIF5A):c.1362+17C>A
|
rs372790531
|
|
NM_004984.4(KIF5A):c.1362+17C>G
|
|
|
NM_004984.4(KIF5A):c.1362+17C>T
|
|
|
NM_004984.4(KIF5A):c.1362+7G>A
|
rs1349376862
|
|
NM_004984.4(KIF5A):c.1362+8G>A
|
|
|
NM_004984.4(KIF5A):c.1363-11C>T
|
|
|
NM_004984.4(KIF5A):c.1363-13C>A
|
|
|
NM_004984.4(KIF5A):c.1363-13C>T
|
|
|
NM_004984.4(KIF5A):c.1363-4G>C
|
rs2140165168
|
|
NM_004984.4(KIF5A):c.1363-5T>C
|
rs747818828
|
|
NM_004984.4(KIF5A):c.1371G>A (p.Val457=)
|
rs1173503363
|
|
NM_004984.4(KIF5A):c.1379G>A (p.Arg460Gln)
|
|
|
NM_004984.4(KIF5A):c.1395G>A (p.Lys465=)
|
|
|
NM_004984.4(KIF5A):c.1402C>A (p.Arg468=)
|
rs771021589
|
|
NM_004984.4(KIF5A):c.1402C>T (p.Arg468Trp)
|
|
|
NM_004984.4(KIF5A):c.1410G>A (p.Leu470=)
|
|
|
NM_004984.4(KIF5A):c.1419G>T (p.Leu473=)
|
|
|
NM_004984.4(KIF5A):c.1422A>G (p.Gln474=)
|
rs1373971092
|
|
NM_004984.4(KIF5A):c.1428G>A (p.Glu476=)
|
|
|
NM_004984.4(KIF5A):c.1437C>G (p.Ala479=)
|
|
|
NM_004984.4(KIF5A):c.1470C>T (p.Ala490=)
|
|
|
NM_004984.4(KIF5A):c.1482G>A (p.Leu494=)
|
|
|
NM_004984.4(KIF5A):c.1500G>A (p.Gln500=)
|
|
|
NM_004984.4(KIF5A):c.1521G>A (p.Glu507=)
|
rs1882277764
|
|
NM_004984.4(KIF5A):c.1557G>A (p.Leu519=)
|
|
|
NM_004984.4(KIF5A):c.1569+8G>A
|
rs2140165313
|
|
NM_004984.4(KIF5A):c.1570-18C>T
|
|
|
NM_004984.4(KIF5A):c.1570-6C>T
|
|
|
NM_004984.4(KIF5A):c.1590G>A (p.Glu530=)
|
|
|
NM_004984.4(KIF5A):c.1600C>A (p.Gln534Lys)
|
|
|
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp)
|
rs1055742325
|
|
NM_004984.4(KIF5A):c.162C>T (p.Pro54=)
|
|
|
NM_004984.4(KIF5A):c.1653G>T (p.Leu551=)
|
|
|
NM_004984.4(KIF5A):c.1660C>T (p.Leu554=)
|
|
|
NM_004984.4(KIF5A):c.1662G>A (p.Leu554=)
|
rs2140165629
|
|
NM_004984.4(KIF5A):c.1674G>A (p.Leu558=)
|
rs2140165640
|
|
NM_004984.4(KIF5A):c.1701C>T (p.Asn567=)
|
rs2140165659
|
|
NM_004984.4(KIF5A):c.1716+11A>G
|
|
|
NM_004984.4(KIF5A):c.1717-12T>C
|
|
|
NM_004984.4(KIF5A):c.1717-13T>C
|
rs2140167357
|
|
NM_004984.4(KIF5A):c.1717-16_1717-14del
|
|
|
NM_004984.4(KIF5A):c.1717-19C>T
|
|
|
NM_004984.4(KIF5A):c.1717-6C>T
|
rs61935711
|
|
NM_004984.4(KIF5A):c.171G>A (p.Thr57=)
|
|
|
NM_004984.4(KIF5A):c.1728C>T (p.Ile576=)
|
|
|
NM_004984.4(KIF5A):c.1743G>A (p.Glu581=)
|
|
|
NM_004984.4(KIF5A):c.1752C>T (p.Phe584=)
|
|
|
NM_004984.4(KIF5A):c.1770C>T (p.Tyr590=)
|
|
|
NM_004984.4(KIF5A):c.1776C>T (p.Ser592=)
|
rs2140167424
|
|
NM_004984.4(KIF5A):c.1797G>A (p.Lys599=)
|
|
|
NM_004984.4(KIF5A):c.1803G>A (p.Val601=)
|
|
|
NM_004984.4(KIF5A):c.1806C>T (p.Val602=)
|
|
|
NM_004984.4(KIF5A):c.1896C>A (p.Leu632=)
|
|
|
NM_004984.4(KIF5A):c.1900T>A (p.Ser634Thr)
|
rs1343792922
|
|
NM_004984.4(KIF5A):c.1905+17G>A
|
rs2140167547
|
|
NM_004984.4(KIF5A):c.1905+9C>G
|
rs2140167541
|
|
NM_004984.4(KIF5A):c.1906-10C>G
|
rs561056213
|
|
NM_004984.4(KIF5A):c.1906-12T>C
|
|
|
NM_004984.4(KIF5A):c.1906-18C>T
|
rs764872296
|
|
NM_004984.4(KIF5A):c.1911G>A (p.Glu637=)
|
|
|
NM_004984.4(KIF5A):c.1922G>A (p.Arg641His)
|
|
|
NM_004984.4(KIF5A):c.1926G>C (p.Ser642=)
|
rs377649745
|
|
NM_004984.4(KIF5A):c.1929T>A (p.Leu643=)
|
rs1330835160
|
|
NM_004984.4(KIF5A):c.1929T>C (p.Leu643=)
|
|
|
NM_004984.4(KIF5A):c.1931C>T (p.Thr644Met)
|
|
|
NM_004984.4(KIF5A):c.1938C>T (p.Tyr646=)
|
|
|
NM_004984.4(KIF5A):c.1946G>A (p.Ser649Asn)
|
|
|
NM_004984.4(KIF5A):c.1948G>T (p.Val650Leu)
|
|
|
NM_004984.4(KIF5A):c.1953G>C (p.Glu651Asp)
|
|
|
NM_004984.4(KIF5A):c.1956A>G (p.Leu652=)
|
|
|
NM_004984.4(KIF5A):c.1959G>A (p.Lys653=)
|
|
|
NM_004984.4(KIF5A):c.1998T>C (p.Asp666=)
|
rs1594922304
|
|
NM_004984.4(KIF5A):c.2002C>G (p.Leu668Val)
|
|
|
NM_004984.4(KIF5A):c.2023+12T>C
|
|
|
NM_004984.4(KIF5A):c.2023+16A>G
|
|
|
NM_004984.4(KIF5A):c.2024-13C>T
|
rs1265099591
|
|
NM_004984.4(KIF5A):c.2024-5C>T
|
|
|
NM_004984.4(KIF5A):c.2024-6C>T
|
|
|
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu)
|
|
|
NM_004984.4(KIF5A):c.2055G>A (p.Lys685=)
|
rs2140168069
|
|
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
|
|
|
NM_004984.4(KIF5A):c.2079T>C (p.Asp693=)
|
rs756599532
|
|
NM_004984.4(KIF5A):c.2088+15T>C
|
|
|
NM_004984.4(KIF5A):c.2088+17T>A
|
|
|
NM_004984.4(KIF5A):c.2089-11G>T
|
rs755221355
|
|
NM_004984.4(KIF5A):c.2089-13G>C
|
rs2140168188
|
|
NM_004984.4(KIF5A):c.2089-14G>A
|
rs2140168183
|
|
NM_004984.4(KIF5A):c.2089-14_2089-10del
|
rs1282416657
|
|
NM_004984.4(KIF5A):c.2089-16G>A
|
|
|
NM_004984.4(KIF5A):c.2089-18G>A
|
|
|
NM_004984.4(KIF5A):c.2089-4G>C
|
|
|
NM_004984.4(KIF5A):c.2097G>A (p.Leu699=)
|
|
|
NM_004984.4(KIF5A):c.2103G>A (p.Leu701=)
|
|
|
NM_004984.4(KIF5A):c.2118C>T (p.His706=)
|
|
|
NM_004984.4(KIF5A):c.2133C>T (p.His711=)
|
|
|
NM_004984.4(KIF5A):c.2146C>A (p.Arg716=)
|
rs377539747
|
|
NM_004984.4(KIF5A):c.2166C>T (p.Asn722=)
|
|
|
NM_004984.4(KIF5A):c.2167G>A (p.Glu723Lys)
|
|
|
NM_004984.4(KIF5A):c.217+11dup
|
|
|
NM_004984.4(KIF5A):c.2178G>A (p.Lys726=)
|
|
|
NM_004984.4(KIF5A):c.218-11G>A
|
|
|
NM_004984.4(KIF5A):c.218-11G>C
|
|
|
NM_004984.4(KIF5A):c.218-12T>C
|
|
|
NM_004984.4(KIF5A):c.218-14A>G
|
|
|
NM_004984.4(KIF5A):c.218-16C>T
|
rs900924640
|
|
NM_004984.4(KIF5A):c.218-17T>C
|
rs2140158825
|
|
NM_004984.4(KIF5A):c.218-19T>C
|
rs2140158822
|
|
NM_004984.4(KIF5A):c.218-20T>G
|
|
|
NM_004984.4(KIF5A):c.218-7C>G
|
rs1377018724
|
|
NM_004984.4(KIF5A):c.218-9C>T
|
rs936245243
|
|
NM_004984.4(KIF5A):c.2181C>T (p.Thr727=)
|
rs754410882
|
|
NM_004984.4(KIF5A):c.2189A>G (p.Glu730Gly)
|
rs751019108
|
|
NM_004984.4(KIF5A):c.2193C>G (p.Leu731=)
|
rs1565702439
|
|
NM_004984.4(KIF5A):c.2194A>G (p.Lys732Glu)
|
|
|
NM_004984.4(KIF5A):c.2198+16G>A
|
|
|
NM_004984.4(KIF5A):c.2198+18C>T
|
|
|
NM_004984.4(KIF5A):c.2199-15del
|
|
|
NM_004984.4(KIF5A):c.2199-8C>T
|
|
|
NM_004984.4(KIF5A):c.2199-9G>C
|
|
|
NM_004984.4(KIF5A):c.2211G>A (p.Lys737=)
|
rs2140168629
|
|
NM_004984.4(KIF5A):c.2214C>G (p.Leu738=)
|
|
|
NM_004984.4(KIF5A):c.2217G>A (p.Gln739=)
|
rs755813386
|
|
NM_004984.4(KIF5A):c.222C>G (p.Val74=)
|
|
|
NM_004984.4(KIF5A):c.2300+22_2300+36del
|
rs2140168722
|
|
NM_004984.4(KIF5A):c.2301-10C>T
|
|
|
NM_004984.4(KIF5A):c.2301-20C>T
|
rs2140169231
|
|
NM_004984.4(KIF5A):c.2304T>C (p.Phe768=)
|
rs773966928
|
|
NM_004984.4(KIF5A):c.2307G>A (p.Leu769=)
|
rs1365812959
|
|
NM_004984.4(KIF5A):c.2311G>A (p.Glu771Lys)
|
|
|
NM_004984.4(KIF5A):c.2318A>G (p.His773Arg)
|
|
|
NM_004984.4(KIF5A):c.2330A>G (p.Lys777Arg)
|
|
|
NM_004984.4(KIF5A):c.2361+14T>C
|
rs2140169321
|
|
NM_004984.4(KIF5A):c.2361+16C>A
|
rs1031343176
|
|
NM_004984.4(KIF5A):c.2362-10T>C
|
|
|
NM_004984.4(KIF5A):c.2362-12C>A
|
|
|
NM_004984.4(KIF5A):c.2362-19T>C
|
|
|
NM_004984.4(KIF5A):c.2362-6T>C
|
|
|
NM_004984.4(KIF5A):c.2366G>A (p.Arg789Gln)
|
|
|
NM_004984.4(KIF5A):c.2400G>C (p.Leu800=)
|
|
|
NM_004984.4(KIF5A):c.2417C>T (p.Thr806Met)
|
|
|
NM_004984.4(KIF5A):c.2418G>C (p.Thr806=)
|
|
|
NM_004984.4(KIF5A):c.2422C>A (p.Arg808=)
|
|
|
NM_004984.4(KIF5A):c.2423G>A (p.Arg808Gln)
|
|
|
NM_004984.4(KIF5A):c.2427C>T (p.Val809=)
|
|
|
NM_004984.4(KIF5A):c.2433+14T>G
|
|
|
NM_004984.4(KIF5A):c.2433+18G>A
|
rs1594924065
|
|
NM_004984.4(KIF5A):c.2433+8C>T
|
|
|
NM_004984.4(KIF5A):c.2434-12A>G
|
|
|
NM_004984.4(KIF5A):c.2434-14C>G
|
|
|
NM_004984.4(KIF5A):c.2434-15del
|
rs759514259
|
|
NM_004984.4(KIF5A):c.243C>A (p.Thr81=)
|
|
|
NM_004984.4(KIF5A):c.243C>T (p.Thr81=)
|
|
|
NM_004984.4(KIF5A):c.2448G>A (p.Glu816=)
|
|
|
NM_004984.4(KIF5A):c.2466G>C (p.Gly822=)
|
rs759472256
|
|
NM_004984.4(KIF5A):c.2475C>T (p.Ser825=)
|
|
|
NM_004984.4(KIF5A):c.2538+13T>C
|
|
|
NM_004984.4(KIF5A):c.2538+18G>A
|
rs747524040
|
|
NM_004984.4(KIF5A):c.2538+9C>T
|
|
|
NM_004984.4(KIF5A):c.2539-13G>T
|
rs1057523621
|
|
NM_004984.4(KIF5A):c.2539-15T>C
|
|
|
NM_004984.4(KIF5A):c.2539-15del
|
|
|
NM_004984.4(KIF5A):c.2539-18C>T
|
rs2140171386
|
|
NM_004984.4(KIF5A):c.2539-6C>T
|
|
|
NM_004984.4(KIF5A):c.2539-8C>G
|
rs2140171397
|
|
NM_004984.4(KIF5A):c.2539-9G>C
|
|
|
NM_004984.4(KIF5A):c.2550C>T (p.Asp850=)
|
|
|
NM_004984.4(KIF5A):c.255T>C (p.Tyr85=)
|
rs1881978589
|
|
NM_004984.4(KIF5A):c.2589A>G (p.Lys863=)
|
|
|
NM_004984.4(KIF5A):c.2604G>A (p.Thr868=)
|
|
|
NM_004984.4(KIF5A):c.2631T>C (p.Gly877=)
|
|
|
NM_004984.4(KIF5A):c.2675G>A (p.Arg892Gln)
|
|
|
NM_004984.4(KIF5A):c.2685G>A (p.Gln895=)
|
|
|
NM_004984.4(KIF5A):c.2700C>T (p.Ile900=)
|
|
|
NM_004984.4(KIF5A):c.2709C>T (p.Ala903=)
|
|
|
NM_004984.4(KIF5A):c.270A>T (p.Ser90=)
|
rs2140158864
|
|
NM_004984.4(KIF5A):c.2720A>T (p.Lys907Met)
|
|
|
NM_004984.4(KIF5A):c.2739C>G (p.Gly913=)
|
rs1435453925
|
|
NM_004984.4(KIF5A):c.2755+16C>T
|
|
|
NM_004984.4(KIF5A):c.2755+8G>A
|
|
|
NM_004984.4(KIF5A):c.2755+9G>A
|
|
|
NM_004984.4(KIF5A):c.2756-4G>A
|
|
|
NM_004984.4(KIF5A):c.2756-5T>G
|
|
|
NM_004984.4(KIF5A):c.2756-8T>C
|
|
|
NM_004984.4(KIF5A):c.2768G>A (p.Arg923Gln)
|
|
|
NM_004984.4(KIF5A):c.2783C>A (p.Pro928Gln)
|
|
|
NM_004984.4(KIF5A):c.2784A>G (p.Pro928=)
|
rs1467156414
|
|
NM_004984.4(KIF5A):c.2790C>G (p.Ser930=)
|
|
|
NM_004984.4(KIF5A):c.2802C>T (p.Asn934=)
|
rs1381639610
|
|
NM_004984.4(KIF5A):c.2808T>C (p.Tyr936=)
|
|
|
NM_004984.4(KIF5A):c.2815C>T (p.Arg939Trp)
|
rs779422769
|
|
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
|
|
|
NM_004984.4(KIF5A):c.2817G>A (p.Arg939=)
|
|
|
NM_004984.4(KIF5A):c.285C>T (p.Thr95=)
|
|
|
NM_004984.4(KIF5A):c.2889C>G (p.Pro963=)
|
|
|
NM_004984.4(KIF5A):c.2894C>T (p.Ser965Phe)
|
|
|
NM_004984.4(KIF5A):c.2909+10C>T
|
|
|
NM_004984.4(KIF5A):c.2909+11A>G
|
|
|
NM_004984.4(KIF5A):c.2909+12C>T
|
|
|
NM_004984.4(KIF5A):c.2909+18T>C
|
|
|
NM_004984.4(KIF5A):c.291+18G>T
|
|
|
NM_004984.4(KIF5A):c.2910-10C>T
|
|
|
NM_004984.4(KIF5A):c.2910-13C>G
|
|
|
NM_004984.4(KIF5A):c.2910-17T>C
|
|
|
NM_004984.4(KIF5A):c.2916A>C (p.Ala972=)
|
|
|
NM_004984.4(KIF5A):c.2919C>G (p.Asn973Lys)
|
|
|
NM_004984.4(KIF5A):c.292-14C>T
|
|
|
NM_004984.4(KIF5A):c.292-5G>T
|
rs201917057
|
|
NM_004984.4(KIF5A):c.2930G>C (p.Ser977Thr)
|
rs1159045681
|
|
NM_004984.4(KIF5A):c.2933G>C (p.Ser978Thr)
|
|
|
NM_004984.4(KIF5A):c.2942C>A (p.Thr981Lys)
|
|
|
NM_004984.4(KIF5A):c.2952C>A (p.Gly984=)
|
|
|
NM_004984.4(KIF5A):c.2952C>T (p.Gly984=)
|
|
|
NM_004984.4(KIF5A):c.2958C>T (p.Pro986=)
|
rs1236499166
|
|
NM_004984.4(KIF5A):c.2992+18G>C
|
rs745773241
|
|
NM_004984.4(KIF5A):c.2992+20A>T
|
|
|
NM_004984.4(KIF5A):c.2992+8A>G
|
|
|
NM_004984.4(KIF5A):c.2993-12T>G
|
rs542701424
|
|
NM_004984.4(KIF5A):c.2993-13A>C
|
rs2140172663
|
|
NM_004984.4(KIF5A):c.2993-15T>C
|
|
|
NM_004984.4(KIF5A):c.2993-17_2993-15del
|
|
|
NM_004984.4(KIF5A):c.2993-20C>G
|
|
|
NM_004984.4(KIF5A):c.2993-20C>T
|
rs375827219
|
|
NM_004984.4(KIF5A):c.3000C>G (p.Ala1000=)
|
|
|
NM_004984.4(KIF5A):c.3020+11C>A
|
|
|
NM_004984.4(KIF5A):c.3020+19C>T
|
rs780107972
|
|
NM_004984.4(KIF5A):c.3021-18G>A
|
rs768178863
|
|
NM_004984.4(KIF5A):c.3021-6C>T
|
|
|
NM_004984.4(KIF5A):c.3030G>A (p.Leu1010=)
|
rs1231817690
|
|
NM_004984.4(KIF5A):c.3033G>T (p.Pro1011=)
|
|
|
NM_004984.4(KIF5A):c.3039C>G (p.Gly1013=)
|
|
|
NM_004984.4(KIF5A):c.303C>T (p.His101=)
|
rs769191561
|
|
NM_004984.4(KIF5A):c.3062A>C (p.Lys1021Thr)
|
rs1186511989
|
|
NM_004984.4(KIF5A):c.3067T>C (p.Phe1023Leu)
|
|
|
NM_004984.4(KIF5A):c.3081A>G (p.Gln1027=)
|
|
|
NM_004984.4(KIF5A):c.3096C>T (p.Ser1032=)
|
rs2140173077
|
|
NM_004984.4(KIF5A):c.30C>A (p.Ile10=)
|
|
|
NM_004984.4(KIF5A):c.327T>A (p.Ile109=)
|
rs777103564
|
|
NM_004984.4(KIF5A):c.396+16C>T
|
|
|
NM_004984.4(KIF5A):c.396+18G>T
|
|
|
NM_004984.4(KIF5A):c.405C>T (p.Tyr135=)
|
|
|
NM_004984.4(KIF5A):c.42C>T (p.Cys14=)
|
|
|
NM_004984.4(KIF5A):c.445+14C>T
|
|
|
NM_004984.4(KIF5A):c.445+16del
|
rs1410804703
|
|
NM_004984.4(KIF5A):c.445+18G>A
|
|
|
NM_004984.4(KIF5A):c.446-16del
|
|
|
NM_004984.4(KIF5A):c.446-19C>T
|
|
|
NM_004984.4(KIF5A):c.450C>A (p.Thr150=)
|
rs369182603
|
|
NM_004984.4(KIF5A):c.453G>A (p.Lys151=)
|
|
|
NM_004984.4(KIF5A):c.462G>C (p.Leu154=)
|
rs1882017601
|
|
NM_004984.4(KIF5A):c.465C>G (p.Ser155=)
|
|
|
NM_004984.4(KIF5A):c.492A>G (p.Pro164=)
|
rs2140159692
|
|
NM_004984.4(KIF5A):c.501+11G>A
|
|
|
NM_004984.4(KIF5A):c.501+18G>A
|
rs2140159719
|
|
NM_004984.4(KIF5A):c.501+20A>G
|
rs2140159724
|
|
NM_004984.4(KIF5A):c.501+20_501+32del
|
|
|
NM_004984.4(KIF5A):c.502-17C>A
|
|
|
NM_004984.4(KIF5A):c.502-19_502-18del
|
rs770023686
|
|
NM_004984.4(KIF5A):c.504T>C (p.Gly168=)
|
|
|
NM_004984.4(KIF5A):c.51G>T (p.Arg17=)
|
|
|
NM_004984.4(KIF5A):c.555T>C (p.Asp185=)
|
|
|
NM_004984.4(KIF5A):c.589+14C>A
|
|
|
NM_004984.4(KIF5A):c.589+20G>A
|
|
|
NM_004984.4(KIF5A):c.589+7G>A
|
rs921831469
|
|
NM_004984.4(KIF5A):c.590-10G>C
|
|
|
NM_004984.4(KIF5A):c.590-17C>T
|
|
|
NM_004984.4(KIF5A):c.591C>T (p.Asn197=)
|
|
|
NM_004984.4(KIF5A):c.621C>T (p.Ser207=)
|
|
|
NM_004984.4(KIF5A):c.630C>T (p.Leu210=)
|
|
|
NM_004984.4(KIF5A):c.684G>A (p.Leu228=)
|
|
|
NM_004984.4(KIF5A):c.6G>C (p.Ala2=)
|
|
|
NM_004984.4(KIF5A):c.714+11C>T
|
rs759607800
|
|
NM_004984.4(KIF5A):c.714+15G>A
|
|
|
NM_004984.4(KIF5A):c.714+7G>A
|
|
|
NM_004984.4(KIF5A):c.714+9T>C
|
rs878854750
|
|
NM_004984.4(KIF5A):c.715-11T>G
|
rs2140162529
|
|
NM_004984.4(KIF5A):c.735G>A (p.Glu245=)
|
|
|
NM_004984.4(KIF5A):c.741C>T (p.Ala247=)
|
|
|
NM_004984.4(KIF5A):c.744G>C (p.Val248=)
|
|
|
NM_004984.4(KIF5A):c.762T>C (p.Asn254=)
|
|
|
NM_004984.4(KIF5A):c.775C>T (p.Leu259=)
|
|
|
NM_004984.4(KIF5A):c.795G>A (p.Val265=)
|
rs2140162612
|
|
NM_004984.4(KIF5A):c.819+15G>A
|
|
|
NM_004984.4(KIF5A):c.819+16G>T
|
|
|
NM_004984.4(KIF5A):c.819+7G>T
|
|
|
NM_004984.4(KIF5A):c.820-13C>T
|
|
|
NM_004984.4(KIF5A):c.820-14C>A
|
rs944672661
|
|
NM_004984.4(KIF5A):c.820-5C>A
|
|
|
NM_004984.4(KIF5A):c.825C>T (p.Ser275=)
|
|
|
NM_004984.4(KIF5A):c.882A>G (p.Gly294=)
|
rs2140162926
|
|
NM_004984.4(KIF5A):c.888C>T (p.Cys296=)
|
rs773373166
|
|
NM_004984.4(KIF5A):c.906C>T (p.Ile302=)
|
|
|
NM_004984.4(KIF5A):c.936A>C (p.Ala312=)
|
rs1882172406
|
|
NM_004984.4(KIF5A):c.968+16C>T
|
rs1188551649
|
|
NM_004984.4(KIF5A):c.969-15C>T
|
|
|
NM_004984.4(KIF5A):c.969-17C>G
|
|
|
NM_004984.4(KIF5A):c.969-5C>T
|
|
|
NM_004984.4(KIF5A):c.969-9C>T
|
|
|
NM_004984.4(KIF5A):c.969-9_969-7del
|
|
|
NM_004984.4(KIF5A):c.969-9del
|
|
|
NM_004984.4(KIF5A):c.990T>C (p.Thr330=)
|
|
|
NM_004984.4(KIF5A):c.996A>C (p.Ser332=)
|
|
|
NM_005619.5(RTN2):c.1034-13C>G
|
|
|
NM_005619.5(RTN2):c.108G>A (p.Glu36=)
|
|
|
NM_005619.5(RTN2):c.1122T>C (p.Phe374=)
|
|
|
NM_005619.5(RTN2):c.1125C>T (p.Ser375=)
|
|
|
NM_005619.5(RTN2):c.1134C>T (p.Ser378=)
|
|
|
NM_005619.5(RTN2):c.1167C>T (p.Cys389=)
|
|
|
NM_005619.5(RTN2):c.1217G>C (p.Arg406Pro)
|
rs369158895
|
|
NM_005619.5(RTN2):c.1230C>T (p.Ala410=)
|
|
|
NM_005619.5(RTN2):c.1242-4G>T
|
rs761145953
|
|
NM_005619.5(RTN2):c.1242G>A (p.Gln414=)
|
|
|
NM_005619.5(RTN2):c.1251G>A (p.Leu417=)
|
|
|
NM_005619.5(RTN2):c.1273C>T (p.Arg425Trp)
|
|
|
NM_005619.5(RTN2):c.1284G>A (p.Thr428=)
|
|
|
NM_005619.5(RTN2):c.1323G>A (p.Ser441=)
|
|
|
NM_005619.5(RTN2):c.1341G>C (p.Arg447=)
|
|
|
NM_005619.5(RTN2):c.135G>A (p.Glu45=)
|
|
|
NM_005619.5(RTN2):c.1381-5C>T
|
|
|
NM_005619.5(RTN2):c.1451-20C>T
|
|
|
NM_005619.5(RTN2):c.1462C>T (p.Leu488=)
|
rs1968076779
|
|
NM_005619.5(RTN2):c.1493A>G (p.His498Arg)
|
|
|
NM_005619.5(RTN2):c.1506C>T (p.Ile502=)
|
|
|
NM_005619.5(RTN2):c.1572C>T (p.Ile524=)
|
rs1599903496
|
|
NM_005619.5(RTN2):c.1605C>T (p.Ala535=)
|
rs2122199510
|
|
NM_005619.5(RTN2):c.277G>A (p.Val93Ile)
|
|
|
NM_005619.5(RTN2):c.35-4G>A
|
|
|
NM_005619.5(RTN2):c.388G>A (p.Ala130Thr)
|
rs143394159
|
|
NM_005619.5(RTN2):c.555G>A (p.Gly185=)
|
|
|
NM_005619.5(RTN2):c.560-17T>A
|
|
|
NM_005619.5(RTN2):c.564G>A (p.Leu188=)
|
|
|
NM_005619.5(RTN2):c.597G>A (p.Ser199=)
|
rs764702354
|
|
NM_005619.5(RTN2):c.600C>G (p.Pro200=)
|
|
|
NM_005619.5(RTN2):c.609G>A (p.Leu203=)
|
|
|
NM_005619.5(RTN2):c.668G>T (p.Arg223Leu)
|
rs1284501805
|
|
NM_005619.5(RTN2):c.6G>A (p.Gly2=)
|
|
|
NM_005619.5(RTN2):c.814+9C>T
|
|
|
NM_005619.5(RTN2):c.815-20A>G
|
|
|
NM_005619.5(RTN2):c.840A>C (p.Thr280=)
|
|
|
NM_005619.5(RTN2):c.84G>A (p.Gly28=)
|
|
|
NM_005619.5(RTN2):c.954G>A (p.Arg318=)
|
|
|
NM_005619.5(RTN2):c.987C>T (p.Ser329=)
|
|
|
NM_006517.5(SLC16A2):c.1027-14G>A
|
rs2147870973
|
|
NM_006517.5(SLC16A2):c.1047G>A (p.Glu349=)
|
|
|
NM_006517.5(SLC16A2):c.1062G>A (p.Lys354=)
|
rs2147870983
|
|
NM_006517.5(SLC16A2):c.1068C>T (p.Thr356=)
|
|
|
NM_006517.5(SLC16A2):c.111T>C (p.Pro37=)
|
|
|
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6])
|
rs757881983
|
|
NM_006517.5(SLC16A2):c.1170+11C>T
|
rs2147871025
|
|
NM_006517.5(SLC16A2):c.1173C>A (p.Val391=)
|
|
|
NM_006517.5(SLC16A2):c.118G>A (p.Glu40Lys)
|
|
|
NM_006517.5(SLC16A2):c.1245C>T (p.Val415=)
|
|
|
NM_006517.5(SLC16A2):c.124G>A (p.Glu42Lys)
|
|
|
NM_006517.5(SLC16A2):c.129C>A (p.Pro43=)
|
|
|
NM_006517.5(SLC16A2):c.1347C>T (p.Gly449=)
|
|
|
NM_006517.5(SLC16A2):c.1399+19G>A
|
|
|
NM_006517.5(SLC16A2):c.1399+6_1399+7delinsTT
|
|
|
NM_006517.5(SLC16A2):c.1409G>A (p.Arg470His)
|
|
|
NM_006517.5(SLC16A2):c.1524G>A (p.Glu508=)
|
|
|
NM_006517.5(SLC16A2):c.1533T>C (p.Asp511=)
|
|
|
NM_006517.5(SLC16A2):c.171C>G (p.Pro57=)
|
rs2147833962
|
|
NM_006517.5(SLC16A2):c.237C>T (p.Pro79=)
|
|
|
NM_006517.5(SLC16A2):c.258C>A (p.Arg86=)
|
|
|
NM_006517.5(SLC16A2):c.258C>T (p.Arg86=)
|
|
|
NM_006517.5(SLC16A2):c.264C>T (p.Thr88=)
|
|
|
NM_006517.5(SLC16A2):c.265G>C (p.Ala89Pro)
|
rs201661705
|
|
NM_006517.5(SLC16A2):c.306G>A (p.Val102=)
|
|
|
NM_006517.5(SLC16A2):c.430+11C>T
|
|
|
NM_006517.5(SLC16A2):c.430+17G>T
|
|
|
NM_006517.5(SLC16A2):c.438C>G (p.Val146=)
|
|
|
NM_006517.5(SLC16A2):c.438C>T (p.Val146=)
|
|
|
NM_006517.5(SLC16A2):c.474T>G (p.Ser158=)
|
rs1234288700
|
|
NM_006517.5(SLC16A2):c.528G>T (p.Ala176=)
|
|
|
NM_006517.5(SLC16A2):c.575+17G>A
|
|
|
NM_006517.5(SLC16A2):c.576-12T>C
|
|
|
NM_006517.5(SLC16A2):c.576-16G>T
|
|
|
NM_006517.5(SLC16A2):c.580C>T (p.Leu194=)
|
|
|
NM_006517.5(SLC16A2):c.688C>T (p.Leu230=)
|
|
|
NM_006517.5(SLC16A2):c.738C>T (p.Phe246=)
|
|
|
NM_006517.5(SLC16A2):c.750C>T (p.Ile250=)
|
|
|
NM_006517.5(SLC16A2):c.753A>G (p.Arg251=)
|
|
|
NM_006517.5(SLC16A2):c.757C>T (p.Leu253=)
|
|
|
NM_006517.5(SLC16A2):c.79G>C (p.Gly27Arg)
|
|
|
NM_006517.5(SLC16A2):c.921C>T (p.Leu307=)
|
|
|
NM_007175.8(ERLIN2):c.1002G>A (p.Thr334=)
|
|
|
NM_007175.8(ERLIN2):c.107+14_107+15del
|
|
|
NM_007175.8(ERLIN2):c.108-15C>T
|
|
|
NM_007175.8(ERLIN2):c.177T>C (p.Tyr59=)
|
|
|
NM_007175.8(ERLIN2):c.190-19A>G
|
|
|
NM_007175.8(ERLIN2):c.21T>G (p.Val7=)
|
|
|
NM_007175.8(ERLIN2):c.299-4_299-3del
|
rs778852699
|
|
NM_007175.8(ERLIN2):c.408C>G (p.Val136=)
|
rs1554516566
|
|
NM_007175.8(ERLIN2):c.424+9G>C
|
|
|
NM_007175.8(ERLIN2):c.483T>C (p.Pro161=)
|
|
|
NM_007175.8(ERLIN2):c.549C>T (p.Tyr183=)
|
|
|
NM_007175.8(ERLIN2):c.553T>C (p.Leu185=)
|
|
|
NM_007175.8(ERLIN2):c.557+12C>T
|
|
|
NM_007175.8(ERLIN2):c.557+14C>G
|
|
|
NM_007175.8(ERLIN2):c.557+17C>A
|
|
|
NM_007175.8(ERLIN2):c.573A>T (p.Thr191=)
|
|
|
NM_007175.8(ERLIN2):c.597A>G (p.Lys199=)
|
|
|
NM_007175.8(ERLIN2):c.739+13G>A
|
|
|
NM_007175.8(ERLIN2):c.777T>C (p.Asp259=)
|
rs764440061
|
|
NM_007175.8(ERLIN2):c.819+11C>T
|
|
|
NM_007175.8(ERLIN2):c.819+13C>T
|
|
|
NM_007175.8(ERLIN2):c.820-6T>A
|
|
|
NM_007175.8(ERLIN2):c.849G>C (p.Leu283=)
|
|
|
NM_007175.8(ERLIN2):c.873C>G (p.Ser291=)
|
|
|
NM_007175.8(ERLIN2):c.927G>A (p.Ala309=)
|
|
|
NM_007347.5(AP4E1):c.1066+11T>G
|
|
|
NM_007347.5(AP4E1):c.1108C>T (p.Leu370=)
|
|
|
NM_007347.5(AP4E1):c.1176+9G>A
|
|
|
NM_007347.5(AP4E1):c.1177-13C>T
|
|
|
NM_007347.5(AP4E1):c.1177-17T>G
|
|
|
NM_007347.5(AP4E1):c.1209A>G (p.Ala403=)
|
rs560609629
|
|
NM_007347.5(AP4E1):c.1269G>A (p.Glu423=)
|
|
|
NM_007347.5(AP4E1):c.1317-13A>G
|
|
|
NM_007347.5(AP4E1):c.1317-15T>C
|
|
|
NM_007347.5(AP4E1):c.132A>T (p.Thr44=)
|
rs2063530664
|
|
NM_007347.5(AP4E1):c.1335A>G (p.Ala445=)
|
|
|
NM_007347.5(AP4E1):c.1396A>T (p.Ile466Phe)
|
|
|
NM_007347.5(AP4E1):c.1425G>T (p.Ala475=)
|
|
|
NM_007347.5(AP4E1):c.1429+10C>G
|
|
|
NM_007347.5(AP4E1):c.1429+17A>T
|
|
|
NM_007347.5(AP4E1):c.1430-18G>A
|
|
|
NM_007347.5(AP4E1):c.1430-20G>A
|
|
|
NM_007347.5(AP4E1):c.1455G>A (p.Gln485=)
|
|
|
NM_007347.5(AP4E1):c.1491T>G (p.Thr497=)
|
|
|
NM_007347.5(AP4E1):c.150+15G>A
|
|
|
NM_007347.5(AP4E1):c.151-10A>G
|
|
|
NM_007347.5(AP4E1):c.151-4T>G
|
rs2141126254
|
|
NM_007347.5(AP4E1):c.1533T>G (p.Leu511=)
|
|
|
NM_007347.5(AP4E1):c.1549-11T>G
|
|
|
NM_007347.5(AP4E1):c.165A>G (p.Leu55=)
|
|
|
NM_007347.5(AP4E1):c.1694C>A (p.Ala565Glu)
|
rs142762839
|
|
NM_007347.5(AP4E1):c.174G>A (p.Gln58=)
|
rs1214813881
|
|
NM_007347.5(AP4E1):c.1851+19A>G
|
|
|
NM_007347.5(AP4E1):c.1851+7C>A
|
|
|
NM_007347.5(AP4E1):c.1914G>A (p.Ala638=)
|
|
|
NM_007347.5(AP4E1):c.1966+11A>G
|
|
|
NM_007347.5(AP4E1):c.2010C>G (p.Gly670=)
|
|
|
NM_007347.5(AP4E1):c.2019A>C (p.Gly673=)
|
rs1555461061
|
|
NM_007347.5(AP4E1):c.2090+14T>A
|
|
|
NM_007347.5(AP4E1):c.2090+16A>G
|
|
|
NM_007347.5(AP4E1):c.2090+19A>G
|
|
|
NM_007347.5(AP4E1):c.2091-13del
|
|
|
NM_007347.5(AP4E1):c.2091-9C>A
|
rs369000416
|
|
NM_007347.5(AP4E1):c.2125T>C (p.Leu709=)
|
|
|
NM_007347.5(AP4E1):c.222+11A>G
|
|
|
NM_007347.5(AP4E1):c.222+17dup
|
|
|
NM_007347.5(AP4E1):c.2346+11G>A
|
|
|
NM_007347.5(AP4E1):c.2347-10A>G
|
|
|
NM_007347.5(AP4E1):c.2358A>G (p.Ala786=)
|
|
|
NM_007347.5(AP4E1):c.2442C>T (p.Thr814=)
|
rs1420419569
|
|
NM_007347.5(AP4E1):c.2574C>G (p.Leu858=)
|
|
|
NM_007347.5(AP4E1):c.2616G>T (p.Leu872=)
|
|
|
NM_007347.5(AP4E1):c.2874C>T (p.Asp958=)
|
rs148111863
|
|
NM_007347.5(AP4E1):c.2905-13C>T
|
|
|
NM_007347.5(AP4E1):c.2905-16T>C
|
|
|
NM_007347.5(AP4E1):c.291C>T (p.Gly97=)
|
rs1060504800
|
|
NM_007347.5(AP4E1):c.2925C>T (p.Cys975=)
|
rs779844015
|
|
NM_007347.5(AP4E1):c.3096-15A>G
|
|
|
NM_007347.5(AP4E1):c.30G>A (p.Thr10=)
|
|
|
NM_007347.5(AP4E1):c.30G>T (p.Thr10=)
|
rs771366562
|
|
NM_007347.5(AP4E1):c.3159A>G (p.Lys1053=)
|
|
|
NM_007347.5(AP4E1):c.3253+13A>G
|
|
|
NM_007347.5(AP4E1):c.3294C>T (p.Ile1098=)
|
rs1380591581
|
|
NM_007347.5(AP4E1):c.3331T>C (p.Leu1111=)
|
|
|
NM_007347.5(AP4E1):c.3381G>T (p.Leu1127=)
|
|
|
NM_007347.5(AP4E1):c.3399G>C (p.Val1133=)
|
rs1352776365
|
|
NM_007347.5(AP4E1):c.33G>A (p.Ala11=)
|
|
|
NM_007347.5(AP4E1):c.391T>C (p.Leu131=)
|
|
|
NM_007347.5(AP4E1):c.399C>T (p.Leu133=)
|
|
|
NM_007347.5(AP4E1):c.420+10_420+14del
|
rs766725563
|
|
NM_007347.5(AP4E1):c.420+11G>C
|
|
|
NM_007347.5(AP4E1):c.465T>C (p.Thr155=)
|
|
|
NM_007347.5(AP4E1):c.542+9A>C
|
rs1465985039
|
|
NM_007347.5(AP4E1):c.573A>G (p.Ala191=)
|
rs368895241
|
|
NM_007347.5(AP4E1):c.585C>T (p.Phe195=)
|
rs1301195194
|
|
NM_007347.5(AP4E1):c.672C>T (p.Ala224=)
|
|
|
NM_007347.5(AP4E1):c.703-19T>C
|
|
|
NM_007347.5(AP4E1):c.703-4del
|
|
|
NM_007347.5(AP4E1):c.762A>C (p.Val254=)
|
|
|
NM_007347.5(AP4E1):c.869+13C>T
|
|
|
NM_007347.5(AP4E1):c.869+9T>C
|
|
|
NM_007347.5(AP4E1):c.897T>C (p.Leu299=)
|
|
|
NM_007347.5(AP4E1):c.900T>C (p.Asp300=)
|
rs2141164775
|
|
NM_007347.5(AP4E1):c.93C>T (p.Ser31=)
|
|
|
NM_007347.5(AP4E1):c.943+13T>C
|
|
|
NM_014231.5(VAMP1):c.105G>A (p.Gln35=)
|
|
|
NM_014231.5(VAMP1):c.129+19C>T
|
|
|
NM_014231.5(VAMP1):c.130-15C>G
|
rs2137008471
|
|
NM_014231.5(VAMP1):c.195G>A (p.Leu65=)
|
|
|
NM_014231.5(VAMP1):c.2+19G>C
|
|
|
NM_014231.5(VAMP1):c.222A>G (p.Ala74=)
|
rs2137008216
|
|
NM_014231.5(VAMP1):c.288+12T>G
|
|
|
NM_014231.5(VAMP1):c.289-16G>A
|
|
|
NM_014231.5(VAMP1):c.289-20T>G
|
|
|
NM_014231.5(VAMP1):c.289-6C>T
|
|
|
NM_014231.5(VAMP1):c.3-12G>A
|
|
|
NM_014231.5(VAMP1):c.3-14_3-13del
|
|
|
NM_014231.5(VAMP1):c.3-19T>C
|
|
|
NM_014231.5(VAMP1):c.3-9T>C
|
|
|
NM_014231.5(VAMP1):c.336T>C (p.Ile112=)
|
|
|
NM_014231.5(VAMP1):c.340+12T>G
|
|
|
NM_014231.5(VAMP1):c.340+16G>A
|
rs1949966453
|
|
NM_014231.5(VAMP1):c.340+20C>T
|
|
|
NM_014231.5(VAMP1):c.341-10C>T
|
|
|
NM_014231.5(VAMP1):c.341-18_341-16del
|
rs2137003159
|
|
NM_014231.5(VAMP1):c.341-21_341-19delinsAAA
|
rs2137003183
|
|
NM_014231.5(VAMP1):c.351T>C (p.Phe117=)
|
|
|
NM_014363.6(SACS):c.10000T>C (p.Leu3334=)
|
rs2137578816
|
|
NM_014363.6(SACS):c.10002G>A (p.Leu3334=)
|
rs2137578794
|
|
NM_014363.6(SACS):c.10005C>T (p.Asn3335=)
|
|
|
NM_014363.6(SACS):c.10023C>T (p.Asp3341=)
|
rs2137578682
|
|
NM_014363.6(SACS):c.10026T>C (p.Ser3342=)
|
|
|
NM_014363.6(SACS):c.10029A>G (p.Ala3343=)
|
rs1018403111
|
|
NM_014363.6(SACS):c.10056A>G (p.Thr3352=)
|
|
|
NM_014363.6(SACS):c.10056A>T (p.Thr3352=)
|
|
|
NM_014363.6(SACS):c.1005G>C (p.Ser335=)
|
rs1260369962
|
|
NM_014363.6(SACS):c.10062T>C (p.Asn3354=)
|
|
|
NM_014363.6(SACS):c.10063A>G (p.Ile3355Val)
|
|
|
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg)
|
rs372488932
|
|
NM_014363.6(SACS):c.10068G>A (p.Glu3356=)
|
rs559719069
|
|
NM_014363.6(SACS):c.10068G>C (p.Glu3356Asp)
|
|
|
NM_014363.6(SACS):c.10070G>A (p.Ser3357Asn)
|
|
|
NM_014363.6(SACS):c.10072C>G (p.Pro3358Ala)
|
|
|
NM_014363.6(SACS):c.10074C>T (p.Pro3358=)
|
|
|
NM_014363.6(SACS):c.10083C>T (p.Ile3361=)
|
|
|
NM_014363.6(SACS):c.10089G>A (p.Lys3363=)
|
|
|
NM_014363.6(SACS):c.10093C>G (p.Leu3365Val)
|
|
|
NM_014363.6(SACS):c.10093C>T (p.Leu3365=)
|
|
|
NM_014363.6(SACS):c.10095A>G (p.Leu3365=)
|
rs2137578067
|
|
NM_014363.6(SACS):c.10122T>C (p.Phe3374=)
|
rs2137577656
|
|
NM_014363.6(SACS):c.10125A>G (p.Arg3375=)
|
rs766231682
|
|
NM_014363.6(SACS):c.10133A>G (p.Lys3378Arg)
|
|
|
NM_014363.6(SACS):c.10134A>G (p.Lys3378=)
|
|
|
NM_014363.6(SACS):c.10152T>C (p.Phe3384=)
|
|
|
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
|
rs775633710
|
|
NM_014363.6(SACS):c.10162T>C (p.Leu3388=)
|
|
|
NM_014363.6(SACS):c.10164G>A (p.Leu3388=)
|
rs1482698759
|
|
NM_014363.6(SACS):c.10194G>T (p.Leu3398Phe)
|
|
|
NM_014363.6(SACS):c.10200C>A (p.Ser3400=)
|
|
|
NM_014363.6(SACS):c.10200C>T (p.Ser3400=)
|
rs1593123933
|
|
NM_014363.6(SACS):c.10219C>G (p.Leu3407Val)
|
|
|
NM_014363.6(SACS):c.10221A>T (p.Leu3407=)
|
|
|
NM_014363.6(SACS):c.10227A>G (p.Ser3409=)
|
rs1593123878
|
|
NM_014363.6(SACS):c.10230T>C (p.Leu3410=)
|
|
|
NM_014363.6(SACS):c.10231C>G (p.Pro3411Ala)
|
|
|
NM_014363.6(SACS):c.10233G>A (p.Pro3411=)
|
rs750961199
|
|
NM_014363.6(SACS):c.10233G>T (p.Pro3411=)
|
rs750961199
|
|
NM_014363.6(SACS):c.10266C>T (p.Ser3422=)
|
|
|
NM_014363.6(SACS):c.10299A>T (p.Thr3433=)
|
rs2137576092
|
|
NM_014363.6(SACS):c.1029T>C (p.His343=)
|
|
|
NM_014363.6(SACS):c.10308C>G (p.Ile3436Met)
|
|
|
NM_014363.6(SACS):c.10311T>C (p.Pro3437=)
|
rs2137575945
|
|
NM_014363.6(SACS):c.10327A>G (p.Lys3443Glu)
|
|
|
NM_014363.6(SACS):c.10335A>T (p.Thr3445=)
|
rs1883628192
|
|
NM_014363.6(SACS):c.1034G>A (p.Arg345Gln)
|
|
|
NM_014363.6(SACS):c.10353A>G (p.Ala3451=)
|
rs1376530764
|
|
NM_014363.6(SACS):c.1035G>A (p.Arg345=)
|
rs2137725795
|
|
NM_014363.6(SACS):c.10374C>T (p.His3458=)
|
|
|
NM_014363.6(SACS):c.10377A>G (p.Leu3459=)
|
|
|
NM_014363.6(SACS):c.1037C>T (p.Pro346Leu)
|
|
|
NM_014363.6(SACS):c.10383A>G (p.Glu3461=)
|
|
|
NM_014363.6(SACS):c.10384C>T (p.Leu3462=)
|
|
|
NM_014363.6(SACS):c.10398T>C (p.Ile3466=)
|
|
|
NM_014363.6(SACS):c.10398T>G (p.Ile3466Met)
|
|
|
NM_014363.6(SACS):c.1039A>G (p.Asn347Asp)
|
|
|
NM_014363.6(SACS):c.10401T>C (p.Gly3467=)
|
|
|
NM_014363.6(SACS):c.10428A>G (p.Val3476=)
|
rs2137574942
|
|
NM_014363.6(SACS):c.10440C>T (p.His3480=)
|
|
|
NM_014363.6(SACS):c.10443C>T (p.Leu3481=)
|
rs144087359
|
|
NM_014363.6(SACS):c.10454T>C (p.Ile3485Thr)
|
|
|
NM_014363.6(SACS):c.10458A>C (p.Glu3486Asp)
|
|
|
NM_014363.6(SACS):c.1045A>G (p.Ile349Val)
|
|
|
NM_014363.6(SACS):c.10467T>G (p.Ser3489=)
|
|
|
NM_014363.6(SACS):c.10473T>C (p.Asp3491=)
|
rs2137574612
|
|
NM_014363.6(SACS):c.10489T>C (p.Leu3497=)
|
|
|
NM_014363.6(SACS):c.10494C>A (p.Ile3498=)
|
|
|
NM_014363.6(SACS):c.10494C>G (p.Ile3498Met)
|
|
|
NM_014363.6(SACS):c.10498C>T (p.Leu3500Phe)
|
|
|
NM_014363.6(SACS):c.10500T>A (p.Leu3500=)
|
rs976749171
|
|
NM_014363.6(SACS):c.10506T>C (p.Asn3502=)
|
|
|
NM_014363.6(SACS):c.10510T>C (p.Leu3504=)
|
rs771474242
|
|
NM_014363.6(SACS):c.10518T>C (p.Ser3506=)
|
rs2137574163
|
|
NM_014363.6(SACS):c.10520C>G (p.Ala3507Gly)
|
|
|
NM_014363.6(SACS):c.10521T>C (p.Ala3507=)
|
|
|
NM_014363.6(SACS):c.10545A>G (p.Glu3515=)
|
rs2137573919
|
|
NM_014363.6(SACS):c.10548A>G (p.Gln3516=)
|
|
|
NM_014363.6(SACS):c.10551T>A (p.Leu3517=)
|
rs2137573889
|
|
NM_014363.6(SACS):c.10558A>G (p.Lys3520Glu)
|
|
|
NM_014363.6(SACS):c.10561C>T (p.Leu3521=)
|
rs2137573846
|
|
NM_014363.6(SACS):c.10566A>C (p.Glu3522Asp)
|
|
|
NM_014363.6(SACS):c.10569T>C (p.Ser3523=)
|
|
|
NM_014363.6(SACS):c.10572A>G (p.Leu3524=)
|
rs878854976
|
|
NM_014363.6(SACS):c.10573T>C (p.Leu3525=)
|
|
|
NM_014363.6(SACS):c.10575G>A (p.Leu3525=)
|
rs2137573752
|
|
NM_014363.6(SACS):c.10581C>T (p.Ile3527=)
|
|
|
NM_014363.6(SACS):c.105G>A (p.Lys35=)
|
rs1871673007
|
|
NM_014363.6(SACS):c.10600C>T (p.Leu3534=)
|
|
|
NM_014363.6(SACS):c.10605G>C (p.Lys3535Asn)
|
|
|
NM_014363.6(SACS):c.10608A>G (p.Gln3536=)
|
rs1883610386
|
|
NM_014363.6(SACS):c.10614G>A (p.Lys3538=)
|
|
|
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)
|
rs1425519295
|
|
NM_014363.6(SACS):c.10626T>C (p.Asp3542=)
|
|
|
NM_014363.6(SACS):c.10635G>C (p.Val3545=)
|
rs2137573341
|
|
NM_014363.6(SACS):c.10650T>A (p.Val3550=)
|
rs2137573236
|
|
NM_014363.6(SACS):c.10651A>G (p.Met3551Val)
|
|
|
NM_014363.6(SACS):c.10656T>C (p.Leu3552=)
|
rs2137573154
|
|
NM_014363.6(SACS):c.1065T>C (p.Ala355=)
|
|
|
NM_014363.6(SACS):c.10665A>G (p.Lys3555=)
|
|
|
NM_014363.6(SACS):c.10666T>C (p.Leu3556=)
|
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
NM_014363.6(SACS):c.10677T>A (p.Pro3559=)
|
rs2137572981
|
|
NM_014363.6(SACS):c.10680T>C (p.Asn3560=)
|
rs2137572964
|
|
NM_014363.6(SACS):c.10683T>C (p.Asp3561=)
|
|
|
NM_014363.6(SACS):c.10714C>T (p.Pro3572Ser)
|
|
|
NM_014363.6(SACS):c.10716C>G (p.Pro3572=)
|
rs886050077
|
|
NM_014363.6(SACS):c.10716C>T (p.Pro3572=)
|
|
|
NM_014363.6(SACS):c.1071T>C (p.Ser357=)
|
|
|
NM_014363.6(SACS):c.10724A>G (p.His3575Arg)
|
|
|
NM_014363.6(SACS):c.10725T>C (p.His3575=)
|
rs1368388819
|
|
NM_014363.6(SACS):c.10731A>C (p.Thr3577=)
|
rs759287298
|
|
NM_014363.6(SACS):c.1073A>G (p.Asn358Ser)
|
|
|
NM_014363.6(SACS):c.10747G>A (p.Val3583Met)
|
|
|
NM_014363.6(SACS):c.10759A>C (p.Arg3587=)
|
|
|
NM_014363.6(SACS):c.10761A>G (p.Arg3587=)
|
|
|
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
|
|
|
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
|
|
|
NM_014363.6(SACS):c.10773A>G (p.Leu3591=)
|
rs1465126175
|
|
NM_014363.6(SACS):c.1077T>C (p.Tyr359=)
|
rs922749393
|
|
NM_014363.6(SACS):c.10794G>A (p.Gln3598=)
|
|
|
NM_014363.6(SACS):c.10797G>A (p.Gln3599=)
|
rs2137571967
|
|
NM_014363.6(SACS):c.107A>G (p.Glu36Gly)
|
|
|
NM_014363.6(SACS):c.10800G>C (p.Leu3600Phe)
|
|
|
NM_014363.6(SACS):c.10812T>C (p.Ala3604=)
|
|
|
NM_014363.6(SACS):c.10818A>T (p.Glu3606Asp)
|
|
|
NM_014363.6(SACS):c.10825G>A (p.Val3609Met)
|
|
|
NM_014363.6(SACS):c.10830G>A (p.Arg3610=)
|
rs2137571629
|
|
NM_014363.6(SACS):c.10832C>T (p.Ala3611Val)
|
|
|
NM_014363.6(SACS):c.1085A>G (p.Lys362Arg)
|
|
|
NM_014363.6(SACS):c.10866A>G (p.Gln3622=)
|
|
|
NM_014363.6(SACS):c.1086G>A (p.Lys362=)
|
|
|
NM_014363.6(SACS):c.10880T>G (p.Ile3627Ser)
|
|
|
NM_014363.6(SACS):c.10884T>C (p.Leu3628=)
|
|
|
NM_014363.6(SACS):c.108A>G (p.Glu36=)
|
rs2137840633
|
|
NM_014363.6(SACS):c.10932T>C (p.Phe3644=)
|
rs2137570828
|
|
NM_014363.6(SACS):c.10933C>T (p.Leu3645=)
|
rs761683862
|
|
NM_014363.6(SACS):c.10935G>C (p.Leu3645=)
|
rs2137570784
|
|
NM_014363.6(SACS):c.10941A>G (p.Glu3647=)
|
|
|
NM_014363.6(SACS):c.10944A>G (p.Leu3648=)
|
rs2137570658
|
|
NM_014363.6(SACS):c.10948T>C (p.Leu3650=)
|
rs1185242012
|
|
NM_014363.6(SACS):c.10966C>A (p.Pro3656Thr)
|
|
|
NM_014363.6(SACS):c.10968T>C (p.Pro3656=)
|
rs1052860179
|
|
NM_014363.6(SACS):c.10971G>A (p.Glu3657=)
|
|
|
NM_014363.6(SACS):c.10975G>C (p.Ala3659Pro)
|
|
|
NM_014363.6(SACS):c.10977C>T (p.Ala3659=)
|
|
|
NM_014363.6(SACS):c.10991T>C (p.Ile3664Thr)
|
|
|
NM_014363.6(SACS):c.11017G>A (p.Val3673Ile)
|
|
|
NM_014363.6(SACS):c.1101C>T (p.Asn367=)
|
rs2137725129
|
|
NM_014363.6(SACS):c.11025A>G (p.Gly3675=)
|
rs2137569964
|
|
NM_014363.6(SACS):c.11037T>G (p.Leu3679=)
|
rs1883575247
|
|
NM_014363.6(SACS):c.11039T>C (p.Ile3680Thr)
|
|
|
NM_014363.6(SACS):c.11040A>C (p.Ile3680=)
|
rs750092480
|
|
NM_014363.6(SACS):c.11052A>G (p.Gly3684=)
|
|
|
NM_014363.6(SACS):c.11064T>C (p.Asn3688=)
|
rs2137569675
|
|
NM_014363.6(SACS):c.11066C>T (p.Pro3689Leu)
|
|
|
NM_014363.6(SACS):c.11079A>G (p.Gln3693=)
|
rs769714986
|
|
NM_014363.6(SACS):c.1107C>T (p.Thr369=)
|
rs762838789
|
|
NM_014363.6(SACS):c.11100A>G (p.Leu3700=)
|
|
|
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)
|
rs1883570677
|
|
NM_014363.6(SACS):c.11124A>T (p.Pro3708=)
|
|
|
NM_014363.6(SACS):c.11127G>A (p.Glu3709=)
|
|
|
NM_014363.6(SACS):c.11130A>G (p.Lys3710=)
|
|
|
NM_014363.6(SACS):c.11135C>T (p.Thr3712Ile)
|
|
|
NM_014363.6(SACS):c.11139C>T (p.Pro3713=)
|
rs1282794513
|
|
NM_014363.6(SACS):c.1113A>G (p.Val371=)
|
|
|
NM_014363.6(SACS):c.11145C>T (p.Ser3715=)
|
|
|
NM_014363.6(SACS):c.11146A>G (p.Ile3716Val)
|
|
|
NM_014363.6(SACS):c.11162G>A (p.Gly3721Asp)
|
|
|
NM_014363.6(SACS):c.11163T>C (p.Gly3721=)
|
|
|
NM_014363.6(SACS):c.11175T>C (p.Gly3725=)
|
rs2137568885
|
|
NM_014363.6(SACS):c.11181A>G (p.Gln3727=)
|
|
|
NM_014363.6(SACS):c.11187G>A (p.Gln3729=)
|
rs2137568781
|
|
NM_014363.6(SACS):c.11223G>C (p.Leu3741=)
|
|
|
NM_014363.6(SACS):c.11226T>C (p.Asp3742=)
|
rs762007924
|
|
NM_014363.6(SACS):c.11229T>A (p.Pro3743=)
|
rs2137568490
|
|
NM_014363.6(SACS):c.1122C>T (p.His374=)
|
rs1261457815
|
|
NM_014363.6(SACS):c.11232T>A (p.Pro3744=)
|
rs1593122516
|
|
NM_014363.6(SACS):c.11235T>C (p.Leu3745=)
|
|
|
NM_014363.6(SACS):c.11245A>G (p.Ile3749Val)
|
|
|
NM_014363.6(SACS):c.11247C>T (p.Ile3749=)
|
rs2137568386
|
|
NM_014363.6(SACS):c.11258G>A (p.Arg3753Lys)
|
|
|
NM_014363.6(SACS):c.11271C>T (p.Asn3757=)
|
|
|
NM_014363.6(SACS):c.11272A>G (p.Ile3758Val)
|
|
|
NM_014363.6(SACS):c.11277G>A (p.Thr3759=)
|
|
|
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
|
|
|
NM_014363.6(SACS):c.1129A>G (p.Ile377Val)
|
|
|
NM_014363.6(SACS):c.11304T>C (p.Thr3768=)
|
rs2137567832
|
|
NM_014363.6(SACS):c.11310A>G (p.Ala3770=)
|
rs1438596591
|
|
NM_014363.6(SACS):c.11316C>T (p.Val3772=)
|
rs768744922
|
|
NM_014363.6(SACS):c.11317T>C (p.Leu3773=)
|
rs1194302679
|
|
NM_014363.6(SACS):c.1131T>C (p.Ile377=)
|
rs2137724827
|
|
NM_014363.6(SACS):c.11323A>G (p.Ser3775Gly)
|
|
|
NM_014363.6(SACS):c.11334A>G (p.Glu3778=)
|
|
|
NM_014363.6(SACS):c.11346A>C (p.Ala3782=)
|
|
|
NM_014363.6(SACS):c.11358A>G (p.Glu3786=)
|
|
|
NM_014363.6(SACS):c.11371T>A (p.Leu3791Met)
|
|
|
NM_014363.6(SACS):c.11373G>A (p.Leu3791=)
|
rs1883545757
|
|
NM_014363.6(SACS):c.11376A>C (p.Arg3792=)
|
rs1883544819
|
|
NM_014363.6(SACS):c.11376A>G (p.Arg3792=)
|
rs1883544819
|
|
NM_014363.6(SACS):c.11379G>A (p.Gly3793=)
|
|
|
NM_014363.6(SACS):c.11379G>C (p.Gly3793=)
|
rs754896709
|
|
NM_014363.6(SACS):c.1137A>G (p.Leu379=)
|
|
|
NM_014363.6(SACS):c.11392A>G (p.Met3798Val)
|
|
|
NM_014363.6(SACS):c.11392A>T (p.Met3798Leu)
|
|
|
NM_014363.6(SACS):c.11406T>C (p.Gly3802=)
|
|
|
NM_014363.6(SACS):c.11421G>A (p.Lys3807=)
|
rs2137566698
|
|
NM_014363.6(SACS):c.11427G>A (p.Glu3809=)
|
rs2137566654
|
|
NM_014363.6(SACS):c.11430G>A (p.Glu3810=)
|
|
|
NM_014363.6(SACS):c.11436C>T (p.Val3812=)
|
rs1440717272
|
|
NM_014363.6(SACS):c.1143G>A (p.Glu381=)
|
|
|
NM_014363.6(SACS):c.11445A>G (p.Leu3815=)
|
|
|
NM_014363.6(SACS):c.11454A>G (p.Glu3818=)
|
|
|
NM_014363.6(SACS):c.11457T>C (p.Ser3819=)
|
|
|
NM_014363.6(SACS):c.11473T>C (p.Leu3825=)
|
rs2137566282
|
|
NM_014363.6(SACS):c.11478C>T (p.Tyr3826=)
|
|
|
NM_014363.6(SACS):c.11482C>T (p.Leu3828=)
|
|
|
NM_014363.6(SACS):c.11488T>A (p.Leu3830Ile)
|
|
|
NM_014363.6(SACS):c.11501C>T (p.Thr3834Ile)
|
|
|
NM_014363.6(SACS):c.11514G>A (p.Leu3838=)
|
rs2137565976
|
|
NM_014363.6(SACS):c.11519A>G (p.Lys3840Arg)
|
|
|
NM_014363.6(SACS):c.11522A>G (p.His3841Arg)
|
|
|
NM_014363.6(SACS):c.1152T>C (p.Thr384=)
|
|
|
NM_014363.6(SACS):c.11559T>C (p.Tyr3853=)
|
rs2137565554
|
|
NM_014363.6(SACS):c.1155G>A (p.Lys385=)
|
rs1489092168
|
|
NM_014363.6(SACS):c.11568G>C (p.Val3856=)
|
rs758545212
|
|
NM_014363.6(SACS):c.11571G>A (p.Leu3857=)
|
rs1335896880
|
|
NM_014363.6(SACS):c.11575C>T (p.Arg3859Cys)
|
|
|
NM_014363.6(SACS):c.11576G>T (p.Arg3859Leu)
|
|
|
NM_014363.6(SACS):c.11592T>G (p.Ser3864=)
|
rs2137565300
|
|
NM_014363.6(SACS):c.11593G>C (p.Glu3865Gln)
|
|
|
NM_014363.6(SACS):c.11598C>A (p.Gly3866=)
|
rs2137565223
|
|
NM_014363.6(SACS):c.11619A>G (p.Glu3873=)
|
rs2137565097
|
|
NM_014363.6(SACS):c.11628A>C (p.Thr3876=)
|
rs2137565004
|
|
NM_014363.6(SACS):c.11640A>G (p.Val3880=)
|
|
|
NM_014363.6(SACS):c.11652G>A (p.Leu3884=)
|
|
|
NM_014363.6(SACS):c.11652G>C (p.Leu3884=)
|
|
|
NM_014363.6(SACS):c.11652G>T (p.Leu3884=)
|
rs560937205
|
|
NM_014363.6(SACS):c.11679C>T (p.Val3893=)
|
rs755241961
|
|
NM_014363.6(SACS):c.1167A>G (p.Lys389=)
|
rs2137724548
|
|
NM_014363.6(SACS):c.11681A>G (p.Lys3894Arg)
|
|
|
NM_014363.6(SACS):c.11684T>A (p.Val3895Glu)
|
|
|
NM_014363.6(SACS):c.11697C>G (p.Leu3899=)
|
rs767957360
|
|
NM_014363.6(SACS):c.11708G>A (p.Arg3903Gln)
|
|
|
NM_014363.6(SACS):c.1170A>C (p.Thr390=)
|
|
|
NM_014363.6(SACS):c.11712C>T (p.Asp3904=)
|
rs1593121789
|
|
NM_014363.6(SACS):c.11715T>C (p.Leu3905=)
|
rs1593121777
|
|
NM_014363.6(SACS):c.11718G>A (p.Ala3906=)
|
rs373803461
|
|
NM_014363.6(SACS):c.11727C>T (p.Leu3909=)
|
|
|
NM_014363.6(SACS):c.11739T>C (p.Asp3913=)
|
|
|
NM_014363.6(SACS):c.1173T>A (p.Ser391=)
|
rs150683286
|
|
NM_014363.6(SACS):c.1173T>G (p.Ser391=)
|
|
|
NM_014363.6(SACS):c.11748G>A (p.Leu3916=)
|
rs2137563945
|
|
NM_014363.6(SACS):c.11749G>A (p.Val3917Ile)
|
|
|
NM_014363.6(SACS):c.11766A>G (p.Leu3922=)
|
rs1593121687
|
|
NM_014363.6(SACS):c.11778T>C (p.Asp3926=)
|
rs750575268
|
|
NM_014363.6(SACS):c.11787T>C (p.His3929=)
|
|
|
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg)
|
rs764554878
|
|
NM_014363.6(SACS):c.11808G>T (p.Gly3936=)
|
|
|
NM_014363.6(SACS):c.11814T>C (p.Ile3938=)
|
|
|
NM_014363.6(SACS):c.11856G>A (p.Gly3952=)
|
rs2137563341
|
|
NM_014363.6(SACS):c.11865T>C (p.His3955=)
|
|
|
NM_014363.6(SACS):c.1186A>G (p.Asn396Asp)
|
|
|
NM_014363.6(SACS):c.11877T>C (p.Thr3959=)
|
|
|
NM_014363.6(SACS):c.1189A>G (p.Ser397Gly)
|
|
|
NM_014363.6(SACS):c.11907T>C (p.Leu3969=)
|
|
|
NM_014363.6(SACS):c.11913T>G (p.Pro3971=)
|
|
|
NM_014363.6(SACS):c.11915G>A (p.Arg3972Gln)
|
|
|
NM_014363.6(SACS):c.11916A>G (p.Arg3972=)
|
rs2137562654
|
|
NM_014363.6(SACS):c.11919A>G (p.Leu3973=)
|
|
|
NM_014363.6(SACS):c.1191T>C (p.Ser397=)
|
|
|
NM_014363.6(SACS):c.11925C>T (p.Ser3975=)
|
|
|
NM_014363.6(SACS):c.11931A>T (p.Ile3977=)
|
|
|
NM_014363.6(SACS):c.11940A>G (p.Glu3980=)
|
|
|
NM_014363.6(SACS):c.11944T>C (p.Leu3982=)
|
rs2137562392
|
|
NM_014363.6(SACS):c.11946A>G (p.Leu3982=)
|
|
|
NM_014363.6(SACS):c.11958T>A (p.Thr3986=)
|
|
|
NM_014363.6(SACS):c.11981C>T (p.Ala3994Val)
|
|
|
NM_014363.6(SACS):c.11990C>T (p.Ser3997Phe)
|
|
|
NM_014363.6(SACS):c.11991T>C (p.Ser3997=)
|
rs2137562156
|
|
NM_014363.6(SACS):c.11997A>G (p.Gln3999=)
|
|
|
NM_014363.6(SACS):c.12000A>G (p.Gly4000=)
|
|
|
NM_014363.6(SACS):c.12001A>C (p.Arg4001=)
|
|
|
NM_014363.6(SACS):c.12004T>C (p.Leu4002=)
|
rs773165834
|
|
NM_014363.6(SACS):c.12009G>A (p.Gln4003=)
|
|
|
NM_014363.6(SACS):c.12039A>C (p.Thr4013=)
|
rs2137561682
|
|
NM_014363.6(SACS):c.12039A>G (p.Thr4013=)
|
|
|
NM_014363.6(SACS):c.12042A>G (p.Gly4014=)
|
|
|
NM_014363.6(SACS):c.12045G>C (p.Leu4015=)
|
rs2137561646
|
|
NM_014363.6(SACS):c.1204G>C (p.Gly402Arg)
|
|
|
NM_014363.6(SACS):c.12053T>C (p.Ile4018Thr)
|
|
|
NM_014363.6(SACS):c.12055A>G (p.Met4019Val)
|
|
|
NM_014363.6(SACS):c.12060G>A (p.Lys4020=)
|
rs2137561471
|
|
NM_014363.6(SACS):c.12063T>C (p.His4021=)
|
rs886050074
|
|
NM_014363.6(SACS):c.12069T>C (p.Asn4023=)
|
rs747474648
|
|
NM_014363.6(SACS):c.12078T>A (p.Ala4026=)
|
rs1259730258
|
|
NM_014363.6(SACS):c.12087C>T (p.Ala4029=)
|
|
|
NM_014363.6(SACS):c.12099A>G (p.Lys4033=)
|
rs753090825
|
|
NM_014363.6(SACS):c.12099A>T (p.Lys4033Asn)
|
|
|
NM_014363.6(SACS):c.120G>C (p.Ala40=)
|
|
|
NM_014363.6(SACS):c.12102C>G (p.Ala4034=)
|
rs1359075857
|
|
NM_014363.6(SACS):c.12103A>G (p.Ile4035Val)
|
|
|
NM_014363.6(SACS):c.12114C>T (p.Cys4038=)
|
rs774322849
|
|
NM_014363.6(SACS):c.12121C>T (p.Leu4041=)
|
|
|
NM_014363.6(SACS):c.12123A>G (p.Leu4041=)
|
|
|
NM_014363.6(SACS):c.12126A>G (p.Arg4042=)
|
|
|
NM_014363.6(SACS):c.1212T>C (p.Ser404=)
|
rs1320045340
|
|
NM_014363.6(SACS):c.12156G>A (p.Lys4052=)
|
rs1231366855
|
|
NM_014363.6(SACS):c.1215T>C (p.Ser405=)
|
|
|
NM_014363.6(SACS):c.12162A>G (p.Gln4054=)
|
rs1593121184
|
|
NM_014363.6(SACS):c.12167C>A (p.Thr4056Lys)
|
|
|
NM_014363.6(SACS):c.12168A>G (p.Thr4056=)
|
rs2137560796
|
|
NM_014363.6(SACS):c.12169T>C (p.Leu4057=)
|
|
|
NM_014363.6(SACS):c.12175G>A (p.Val4059Ile)
|
|
|
NM_014363.6(SACS):c.12186T>C (p.Phe4062=)
|
rs2137560600
|
|
NM_014363.6(SACS):c.12190C>T (p.Pro4064Ser)
|
|
|
NM_014363.6(SACS):c.12193A>G (p.Ile4065Val)
|
|
|
NM_014363.6(SACS):c.12205A>C (p.Arg4069=)
|
rs772628731
|
|
NM_014363.6(SACS):c.12219T>C (p.Phe4073=)
|
rs1007835171
|
|
NM_014363.6(SACS):c.12231G>A (p.Lys4077=)
|
rs1355094261
|
|
NM_014363.6(SACS):c.12232C>A (p.Arg4078=)
|
rs141315518
|
|
NM_014363.6(SACS):c.12232C>G (p.Arg4078Gly)
|
|
|
NM_014363.6(SACS):c.12233G>C (p.Arg4078Pro)
|
|
|
NM_014363.6(SACS):c.12243T>C (p.Asn4081=)
|
rs1566056564
|
|
NM_014363.6(SACS):c.12261C>T (p.Tyr4087=)
|
|
|
NM_014363.6(SACS):c.1227T>C (p.Ser409=)
|
rs2137723941
|
|
NM_014363.6(SACS):c.12309A>T (p.Ala4103=)
|
|
|
NM_014363.6(SACS):c.12315T>G (p.Thr4105=)
|
|
|
NM_014363.6(SACS):c.12318T>C (p.Leu4106=)
|
rs2137559627
|
|
NM_014363.6(SACS):c.12324A>G (p.Ser4108=)
|
|
|
NM_014363.6(SACS):c.12333C>T (p.Asp4111=)
|
rs2137559475
|
|
NM_014363.6(SACS):c.12335A>G (p.Asn4112Ser)
|
|
|
NM_014363.6(SACS):c.12336T>C (p.Asn4112=)
|
|
|
NM_014363.6(SACS):c.12345T>C (p.Ser4115=)
|
|
|
NM_014363.6(SACS):c.12345T>G (p.Ser4115=)
|
|
|
NM_014363.6(SACS):c.12348C>T (p.Asp4116=)
|
rs2137559335
|
|
NM_014363.6(SACS):c.12351T>C (p.Thr4117=)
|
|
|
NM_014363.6(SACS):c.12354A>G (p.Ser4118=)
|
rs149691102
|
|
NM_014363.6(SACS):c.12358T>G (p.Leu4120Val)
|
|
|
NM_014363.6(SACS):c.12375A>T (p.Gly4125=)
|
rs1436419066
|
|
NM_014363.6(SACS):c.12379A>G (p.Asn4127Asp)
|
|
|
NM_014363.6(SACS):c.12380A>G (p.Asn4127Ser)
|
|
|
NM_014363.6(SACS):c.12387T>A (p.Ile4129=)
|
|
|
NM_014363.6(SACS):c.12390C>T (p.Tyr4130=)
|
|
|
NM_014363.6(SACS):c.12399T>C (p.Gly4133=)
|
rs2137558935
|
|
NM_014363.6(SACS):c.1240C>T (p.Leu414=)
|
rs765155455
|
|
NM_014363.6(SACS):c.12413G>A (p.Ser4138Asn)
|
|
|
NM_014363.6(SACS):c.12420A>G (p.Gly4140=)
|
|
|
NM_014363.6(SACS):c.12435T>C (p.Ser4145=)
|
|
|
NM_014363.6(SACS):c.12437C>T (p.Ser4146Leu)
|
|
|
NM_014363.6(SACS):c.12441G>A (p.Glu4147=)
|
rs1342375376
|
|
NM_014363.6(SACS):c.12456A>G (p.Glu4152=)
|
|
|
NM_014363.6(SACS):c.12466C>T (p.Pro4156Ser)
|
|
|
NM_014363.6(SACS):c.12471C>T (p.Gly4157=)
|
|
|
NM_014363.6(SACS):c.12474A>C (p.Thr4158=)
|
|
|
NM_014363.6(SACS):c.12477A>T (p.Pro4159=)
|
rs2137558251
|
|
NM_014363.6(SACS):c.12492T>A (p.Ile4164=)
|
|
|
NM_014363.6(SACS):c.12498C>T (p.Tyr4166=)
|
rs2137558150
|
|
NM_014363.6(SACS):c.124A>G (p.Thr42Ala)
|
|
|
NM_014363.6(SACS):c.12507T>C (p.Leu4169=)
|
rs1883464496
|
|
NM_014363.6(SACS):c.12533C>A (p.Pro4178Gln)
|
|
|
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
|
|
|
NM_014363.6(SACS):c.12534G>A (p.Pro4178=)
|
|
|
NM_014363.6(SACS):c.12534G>T (p.Pro4178=)
|
rs765128892
|
|
NM_014363.6(SACS):c.12540A>G (p.Glu4180=)
|
|
|
NM_014363.6(SACS):c.12549G>A (p.Gly4183=)
|
|
|
NM_014363.6(SACS):c.1254A>G (p.Pro418=)
|
rs750585737
|
|
NM_014363.6(SACS):c.12552C>T (p.Tyr4184=)
|
|
|
NM_014363.6(SACS):c.12576T>C (p.Asp4192=)
|
rs2137557517
|
|
NM_014363.6(SACS):c.12577A>G (p.Ile4193Val)
|
|
|
NM_014363.6(SACS):c.12578T>A (p.Ile4193Asn)
|
|
|
NM_014363.6(SACS):c.12588A>G (p.Ser4196=)
|
|
|
NM_014363.6(SACS):c.12589T>C (p.Tyr4197His)
|
|
|
NM_014363.6(SACS):c.125C>T (p.Thr42Ile)
|
|
|
NM_014363.6(SACS):c.12609T>C (p.Tyr4203=)
|
rs1446053286
|
|
NM_014363.6(SACS):c.12612A>G (p.Ala4204=)
|
rs2137557183
|
|
NM_014363.6(SACS):c.12618T>C (p.Ile4206=)
|
rs1883457103
|
|
NM_014363.6(SACS):c.12627A>G (p.Glu4209=)
|
|
|
NM_014363.6(SACS):c.12640G>A (p.Asp4214Asn)
|
|
|
NM_014363.6(SACS):c.1264A>G (p.Ile422Val)
|
|
|
NM_014363.6(SACS):c.12661C>T (p.Leu4221=)
|
rs767622491
|
|
NM_014363.6(SACS):c.12678G>A (p.Gln4226=)
|
|
|
NM_014363.6(SACS):c.12682G>A (p.Asp4228Asn)
|
|
|
NM_014363.6(SACS):c.12686T>C (p.Ile4229Thr)
|
|
|
NM_014363.6(SACS):c.12693T>C (p.Tyr4231=)
|
rs1163399365
|
|
NM_014363.6(SACS):c.12702T>C (p.Tyr4234=)
|
rs907197100
|
|
NM_014363.6(SACS):c.12714C>T (p.Ser4238=)
|
rs1883449068
|
|
NM_014363.6(SACS):c.12717T>C (p.Ser4239=)
|
rs2137556175
|
|
NM_014363.6(SACS):c.12738A>G (p.Ser4246=)
|
|
|
NM_014363.6(SACS):c.12741A>G (p.Arg4247=)
|
|
|
NM_014363.6(SACS):c.12753C>T (p.Ser4251=)
|
rs1247851946
|
|
NM_014363.6(SACS):c.12775C>G (p.Pro4259Ala)
|
|
|
NM_014363.6(SACS):c.12775C>T (p.Pro4259Ser)
|
|
|
NM_014363.6(SACS):c.12777T>C (p.Pro4259=)
|
|
|
NM_014363.6(SACS):c.12777T>G (p.Pro4259=)
|
|
|
NM_014363.6(SACS):c.12779C>G (p.Ser4260Cys)
|
|
|
NM_014363.6(SACS):c.12780T>C (p.Ser4260=)
|
|
|
NM_014363.6(SACS):c.12783A>G (p.Thr4261=)
|
rs2137555437
|
|
NM_014363.6(SACS):c.12787A>C (p.Thr4263Pro)
|
|
|
NM_014363.6(SACS):c.12789C>A (p.Thr4263=)
|
|
|
NM_014363.6(SACS):c.12789C>T (p.Thr4263=)
|
|
|
NM_014363.6(SACS):c.1278A>G (p.Leu426=)
|
|
|
NM_014363.6(SACS):c.12807C>T (p.Leu4269=)
|
|
|
NM_014363.6(SACS):c.12809C>T (p.Thr4270Ile)
|
|
|
NM_014363.6(SACS):c.12810C>T (p.Thr4270=)
|
rs1286784591
|
|
NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu)
|
rs779668584
|
|
NM_014363.6(SACS):c.12813T>C (p.Pro4271=)
|
|
|
NM_014363.6(SACS):c.1281A>T (p.Ser427=)
|
|
|
NM_014363.6(SACS):c.12849A>G (p.Arg4283=)
|
|
|
NM_014363.6(SACS):c.12863C>T (p.Thr4288Ile)
|
|
|
NM_014363.6(SACS):c.12867T>C (p.Ser4289=)
|
rs2137554119
|
|
NM_014363.6(SACS):c.12873A>G (p.Lys4291=)
|
rs2137554075
|
|
NM_014363.6(SACS):c.12875A>C (p.His4292Pro)
|
|
|
NM_014363.6(SACS):c.12884C>A (p.Pro4295His)
|
|
|
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu)
|
rs781029021
|
|
NM_014363.6(SACS):c.12885C>A (p.Pro4295=)
|
|
|
NM_014363.6(SACS):c.12885C>G (p.Pro4295=)
|
|
|
NM_014363.6(SACS):c.12885C>T (p.Pro4295=)
|
|
|
NM_014363.6(SACS):c.12894T>G (p.Leu4298=)
|
|
|
NM_014363.6(SACS):c.12902A>G (p.Asn4301Ser)
|
|
|
NM_014363.6(SACS):c.1290T>C (p.Asp430=)
|
rs1194352705
|
|
NM_014363.6(SACS):c.12916A>G (p.Ile4306Val)
|
|
|
NM_014363.6(SACS):c.12921A>G (p.Leu4307=)
|
rs2137553613
|
|
NM_014363.6(SACS):c.12927A>G (p.Glu4309=)
|
rs1211000585
|
|
NM_014363.6(SACS):c.12951A>G (p.Ala4317=)
|
rs1258695869
|
|
NM_014363.6(SACS):c.12966A>G (p.Glu4322=)
|
rs2137553118
|
|
NM_014363.6(SACS):c.12969G>T (p.Ser4323=)
|
|
|
NM_014363.6(SACS):c.12974G>A (p.Arg4325Gln)
|
|
|
NM_014363.6(SACS):c.12975A>G (p.Arg4325=)
|
rs1883424394
|
|
NM_014363.6(SACS):c.12984T>A (p.Ile4328=)
|
|
|
NM_014363.6(SACS):c.12993G>T (p.Arg4331=)
|
|
|
NM_014363.6(SACS):c.13024C>T (p.Pro4342Ser)
|
|
|
NM_014363.6(SACS):c.13025C>T (p.Pro4342Leu)
|
|
|
NM_014363.6(SACS):c.1302A>G (p.Lys434=)
|
rs2137723320
|
|
NM_014363.6(SACS):c.13039A>C (p.Ile4347Leu)
|
|
|
NM_014363.6(SACS):c.13046A>G (p.Asn4349Ser)
|
|
|
NM_014363.6(SACS):c.1305A>G (p.Gly435=)
|
|
|
NM_014363.6(SACS):c.13063T>C (p.Leu4355=)
|
rs1883419699
|
|
NM_014363.6(SACS):c.13077C>A (p.Ile4359=)
|
|
|
NM_014363.6(SACS):c.13080C>T (p.Asn4360=)
|
|
|
NM_014363.6(SACS):c.13092A>G (p.Lys4364=)
|
rs1478206117
|
|
NM_014363.6(SACS):c.13101T>C (p.Phe4367=)
|
|
|
NM_014363.6(SACS):c.13107T>C (p.Asp4369=)
|
rs1445233565
|
|
NM_014363.6(SACS):c.13110A>G (p.Gln4370=)
|
rs1593119713
|
|
NM_014363.6(SACS):c.13116A>C (p.Ala4372=)
|
|
|
NM_014363.6(SACS):c.13143A>G (p.Ser4381=)
|
|
|
NM_014363.6(SACS):c.13146C>T (p.Thr4382=)
|
|
|
NM_014363.6(SACS):c.13157G>A (p.Arg4386Gln)
|
|
|
NM_014363.6(SACS):c.13160T>A (p.Phe4387Tyr)
|
|
|
NM_014363.6(SACS):c.13164G>A (p.Gln4388=)
|
rs751944796
|
|
NM_014363.6(SACS):c.13176C>T (p.Tyr4392=)
|
rs1285760809
|
|
NM_014363.6(SACS):c.13191C>T (p.Phe4397=)
|
rs758008743
|
|
NM_014363.6(SACS):c.1320C>T (p.Phe440=)
|
|
|
NM_014363.6(SACS):c.13217C>T (p.Thr4406Met)
|
|
|
NM_014363.6(SACS):c.13226A>G (p.Lys4409Arg)
|
|
|
NM_014363.6(SACS):c.13227A>G (p.Lys4409=)
|
rs745934269
|
|
NM_014363.6(SACS):c.13233A>C (p.Glu4411Asp)
|
|
|
NM_014363.6(SACS):c.13233A>G (p.Glu4411=)
|
|
|
NM_014363.6(SACS):c.13236A>G (p.Arg4412=)
|
rs1883407579
|
|
NM_014363.6(SACS):c.13238A>G (p.Gln4413Arg)
|
|
|
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
|
|
|
NM_014363.6(SACS):c.13245G>A (p.Gln4415=)
|
|
|
NM_014363.6(SACS):c.13248C>T (p.Asn4416=)
|
rs2137550538
|
|
NM_014363.6(SACS):c.13270G>C (p.Ala4424Pro)
|
|
|
NM_014363.6(SACS):c.13278G>A (p.Gln4426=)
|
|
|
NM_014363.6(SACS):c.13287T>C (p.Ser4429=)
|
|
|
NM_014363.6(SACS):c.13292G>T (p.Arg4431Met)
|
|
|
NM_014363.6(SACS):c.13293G>A (p.Arg4431=)
|
|
|
NM_014363.6(SACS):c.13299T>C (p.Phe4433=)
|
rs1883399448
|
|
NM_014363.6(SACS):c.13304C>T (p.Pro4435Leu)
|
|
|
NM_014363.6(SACS):c.13305T>C (p.Pro4435=)
|
rs2137549857
|
|
NM_014363.6(SACS):c.13308C>A (p.Pro4436=)
|
|
|
NM_014363.6(SACS):c.13319C>T (p.Ser4440Leu)
|
|
|
NM_014363.6(SACS):c.13320G>A (p.Ser4440=)
|
rs759847087
|
|
NM_014363.6(SACS):c.13320G>C (p.Ser4440=)
|
rs759847087
|
|
NM_014363.6(SACS):c.13320G>T (p.Ser4440=)
|
|
|
NM_014363.6(SACS):c.1332A>G (p.Ala444=)
|
rs1039811925
|
|
NM_014363.6(SACS):c.13341A>G (p.Ala4447=)
|
|
|
NM_014363.6(SACS):c.13342C>T (p.Arg4448Cys)
|
|
|
NM_014363.6(SACS):c.13343G>A (p.Arg4448His)
|
|
|
NM_014363.6(SACS):c.13353A>G (p.Leu4451=)
|
|
|
NM_014363.6(SACS):c.13379C>G (p.Ala4460Gly)
|
|
|
NM_014363.6(SACS):c.13380T>A (p.Ala4460=)
|
|
|
NM_014363.6(SACS):c.13386G>A (p.Arg4462=)
|
|
|
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser)
|
rs757326594
|
|
NM_014363.6(SACS):c.13422C>T (p.Cys4474=)
|
|
|
NM_014363.6(SACS):c.13464T>C (p.Ala4488=)
|
rs2137548841
|
|
NM_014363.6(SACS):c.13467C>T (p.Asp4489=)
|
|
|
NM_014363.6(SACS):c.13473T>C (p.Ala4491=)
|
rs2137548744
|
|
NM_014363.6(SACS):c.13476G>A (p.Val4492=)
|
rs370362235
|
|
NM_014363.6(SACS):c.13482A>C (p.Gly4494=)
|
rs200439163
|
|
NM_014363.6(SACS):c.13500A>G (p.Val4500=)
|
rs2137548578
|
|
NM_014363.6(SACS):c.13503A>C (p.Lys4501Asn)
|
|
|
NM_014363.6(SACS):c.13530G>A (p.Glu4510=)
|
|
|
NM_014363.6(SACS):c.13533A>G (p.Glu4511=)
|
rs1593119019
|
|
NM_014363.6(SACS):c.13542G>A (p.Gln4514=)
|
|
|
NM_014363.6(SACS):c.13545A>G (p.Gln4515=)
|
rs1356049808
|
|
NM_014363.6(SACS):c.13557G>C (p.Leu4519=)
|
rs2137548197
|
|
NM_014363.6(SACS):c.13563T>C (p.Asn4521=)
|
rs766497653
|
|
NM_014363.6(SACS):c.13569T>C (p.Val4523=)
|
rs2137548112
|
|
NM_014363.6(SACS):c.13573A>G (p.Thr4525Ala)
|
|
|
NM_014363.6(SACS):c.13575A>G (p.Thr4525=)
|
rs2137548032
|
|
NM_014363.6(SACS):c.13575A>T (p.Thr4525=)
|
rs2137548032
|
|
NM_014363.6(SACS):c.13587T>C (p.Tyr4529=)
|
|
|
NM_014363.6(SACS):c.13590T>G (p.Gly4530=)
|
|
|
NM_014363.6(SACS):c.13597A>G (p.Ser4533Gly)
|
|
|
NM_014363.6(SACS):c.135G>A (p.Pro45=)
|
|
|
NM_014363.6(SACS):c.13600T>C (p.Leu4534=)
|
|
|
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
|
|
|
NM_014363.6(SACS):c.13614C>T (p.Tyr4538=)
|
rs927804920
|
|
NM_014363.6(SACS):c.13618G>A (p.Asp4540Asn)
|
|
|
NM_014363.6(SACS):c.13629C>G (p.Pro4543=)
|
rs749846446
|
|
NM_014363.6(SACS):c.1363G>A (p.Glu455Lys)
|
|
|
NM_014363.6(SACS):c.13668T>C (p.Val4556=)
|
rs2137547645
|
|
NM_014363.6(SACS):c.13671T>A (p.Ala4557=)
|
rs2137547633
|
|
NM_014363.6(SACS):c.13672A>G (p.Met4558Val)
|
|
|
NM_014363.6(SACS):c.13674G>A (p.Met4558Ile)
|
|
|
NM_014363.6(SACS):c.13680G>T (p.Val4560=)
|
rs2137547578
|
|
NM_014363.6(SACS):c.13686A>G (p.Glu4562=)
|
rs780522946
|
|
NM_014363.6(SACS):c.1369A>G (p.Ser457Gly)
|
|
|
NM_014363.6(SACS):c.13704A>C (p.Ile4568=)
|
rs1304752867
|
|
NM_014363.6(SACS):c.13713T>A (p.Leu4571=)
|
|
|
NM_014363.6(SACS):c.13716A>G (p.Glu4572=)
|
|
|
NM_014363.6(SACS):c.13722T>C (p.Phe4574=)
|
|
|
NM_014363.6(SACS):c.13723A>T (p.Met4575Leu)
|
|
|
NM_014363.6(SACS):c.13725G>A (p.Met4575Ile)
|
|
|
NM_014363.6(SACS):c.13734A>G (p.Lys4578=)
|
|
|
NM_014363.6(SACS):c.13737G>A (p.Val4579=)
|
rs761855750
|
|
NM_014363.6(SACS):c.1380C>T (p.Leu460=)
|
|
|
NM_014363.6(SACS):c.1392C>T (p.Ile464=)
|
|
|
NM_014363.6(SACS):c.1393A>G (p.Ser465Gly)
|
|
|
NM_014363.6(SACS):c.141G>A (p.Ser47=)
|
rs1593160882
|
|
NM_014363.6(SACS):c.1428C>T (p.Ser476=)
|
rs1870274256
|
|
NM_014363.6(SACS):c.1434A>G (p.Lys478=)
|
rs1593144899
|
|
NM_014363.6(SACS):c.1443G>A (p.Glu481=)
|
rs1020930335
|
|
NM_014363.6(SACS):c.1458A>G (p.Arg486=)
|
rs2137722075
|
|
NM_014363.6(SACS):c.1467A>G (p.Ala489=)
|
|
|
NM_014363.6(SACS):c.1479T>C (p.Asn493=)
|
|
|
NM_014363.6(SACS):c.1497T>C (p.Asn499=)
|
rs1285415188
|
|
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)
|
rs1244967438
|
|
NM_014363.6(SACS):c.1503C>T (p.Val501=)
|
|
|
NM_014363.6(SACS):c.1512T>C (p.Ala504=)
|
|
|
NM_014363.6(SACS):c.1515T>C (p.Tyr505=)
|
|
|
NM_014363.6(SACS):c.1521T>G (p.Thr507=)
|
rs751762471
|
|
NM_014363.6(SACS):c.1522C>T (p.Leu508=)
|
rs2137721558
|
|
NM_014363.6(SACS):c.1528T>C (p.Leu510=)
|
rs2137721505
|
|
NM_014363.6(SACS):c.1530A>G (p.Leu510=)
|
|
|
NM_014363.6(SACS):c.1533T>C (p.Asp511=)
|
rs778011175
|
|
NM_014363.6(SACS):c.153G>C (p.Leu51=)
|
rs2137840209
|
|
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
|
|
|
NM_014363.6(SACS):c.1546C>T (p.Leu516=)
|
|
|
NM_014363.6(SACS):c.1551G>A (p.Glu517=)
|
|
|
NM_014363.6(SACS):c.1560G>C (p.Lys520Asn)
|
|
|
NM_014363.6(SACS):c.1563C>T (p.Ser521=)
|
|
|
NM_014363.6(SACS):c.1566T>C (p.Ser522=)
|
|
|
NM_014363.6(SACS):c.1566T>G (p.Ser522=)
|
rs1203606581
|
|
NM_014363.6(SACS):c.1575C>G (p.Pro525=)
|
rs2137720978
|
|
NM_014363.6(SACS):c.1576T>C (p.Leu526=)
|
|
|
NM_014363.6(SACS):c.1581A>G (p.Ser527=)
|
|
|
NM_014363.6(SACS):c.1590T>C (p.Val530=)
|
rs2137720859
|
|
NM_014363.6(SACS):c.1592T>C (p.Ile531Thr)
|
|
|
NM_014363.6(SACS):c.1599G>A (p.Lys533=)
|
rs2137720717
|
|
NM_014363.6(SACS):c.159C>T (p.Arg53=)
|
|
|
NM_014363.6(SACS):c.15G>A (p.Glu5=)
|
|
|
NM_014363.6(SACS):c.1600C>G (p.Leu534Val)
|
|
|
NM_014363.6(SACS):c.1617C>T (p.Ser539=)
|
|
|
NM_014363.6(SACS):c.1625A>C (p.Lys542Thr)
|
|
|
NM_014363.6(SACS):c.1638A>G (p.Gln546=)
|
rs755389972
|
|
NM_014363.6(SACS):c.1643T>C (p.Val548Ala)
|
|
|
NM_014363.6(SACS):c.1647A>G (p.Leu549=)
|
rs942512596
|
|
NM_014363.6(SACS):c.1650G>A (p.Glu550=)
|
|
|
NM_014363.6(SACS):c.1654C>G (p.Leu552Val)
|
|
|
NM_014363.6(SACS):c.1654C>T (p.Leu552=)
|
|
|
NM_014363.6(SACS):c.1659C>G (p.Phe553Leu)
|
|
|
NM_014363.6(SACS):c.165C>G (p.Gly55=)
|
|
|
NM_014363.6(SACS):c.1662C>A (p.Ser554Arg)
|
|
|
NM_014363.6(SACS):c.1662C>T (p.Ser554=)
|
rs185812845
|
|
NM_014363.6(SACS):c.1675A>G (p.Asn559Asp)
|
|
|
NM_014363.6(SACS):c.1693A>G (p.Ile565Val)
|
|
|
NM_014363.6(SACS):c.1701T>G (p.Cys567Trp)
|
|
|
NM_014363.6(SACS):c.1702G>A (p.Asp568Asn)
|
|
|
NM_014363.6(SACS):c.171+12C>A
|
|
|
NM_014363.6(SACS):c.171+13C>G
|
|
|
NM_014363.6(SACS):c.171+14G>A
|
|
|
NM_014363.6(SACS):c.171+15G>C
|
|
|
NM_014363.6(SACS):c.171+18G>T
|
|
|
NM_014363.6(SACS):c.171+7G>A
|
|
|
NM_014363.6(SACS):c.171+9dup
|
|
|
NM_014363.6(SACS):c.1710C>T (p.Val570=)
|
|
|
NM_014363.6(SACS):c.172-11C>A
|
|
|
NM_014363.6(SACS):c.172-11C>T
|
|
|
NM_014363.6(SACS):c.172-12G>T
|
|
|
NM_014363.6(SACS):c.172-18T>G
|
|
|
NM_014363.6(SACS):c.172-20T>G
|
|
|
NM_014363.6(SACS):c.172-8T>C
|
rs2137815970
|
|
NM_014363.6(SACS):c.1734A>G (p.Ser578=)
|
|
|
NM_014363.6(SACS):c.1760C>G (p.Thr587Arg)
|
|
|
NM_014363.6(SACS):c.1761A>G (p.Thr587=)
|
rs2137719149
|
|
NM_014363.6(SACS):c.1773C>T (p.Leu591=)
|
rs759498792
|
|
NM_014363.6(SACS):c.1779C>T (p.Tyr593=)
|
|
|
NM_014363.6(SACS):c.177T>G (p.Ser59=)
|
|
|
NM_014363.6(SACS):c.1791A>G (p.Ser597=)
|
rs371175405
|
|
NM_014363.6(SACS):c.1794G>A (p.Gly598=)
|
rs1184294805
|
|
NM_014363.6(SACS):c.1794G>C (p.Gly598=)
|
rs1184294805
|
|
NM_014363.6(SACS):c.1806C>T (p.Ala602=)
|
|
|
NM_014363.6(SACS):c.1812A>G (p.Val604=)
|
rs2137718559
|
|
NM_014363.6(SACS):c.1818G>A (p.Gly606=)
|
|
|
NM_014363.6(SACS):c.1828G>A (p.Ala610Thr)
|
|
|
NM_014363.6(SACS):c.1830T>C (p.Ala610=)
|
|
|
NM_014363.6(SACS):c.1833T>A (p.Ala611=)
|
rs780001448
|
|
NM_014363.6(SACS):c.1833T>C (p.Ala611=)
|
rs780001448
|
|
NM_014363.6(SACS):c.1842C>T (p.Leu614=)
|
rs781774809
|
|
NM_014363.6(SACS):c.1853C>T (p.Ser618Phe)
|
|
|
NM_014363.6(SACS):c.1864C>T (p.Pro622Ser)
|
|
|
NM_014363.6(SACS):c.1866T>A (p.Pro622=)
|
|
|
NM_014363.6(SACS):c.186C>T (p.Ile62=)
|
rs2137815857
|
|
NM_014363.6(SACS):c.1872G>A (p.Arg624=)
|
|
|
NM_014363.6(SACS):c.1878G>A (p.Val626=)
|
|
|
NM_014363.6(SACS):c.1881G>C (p.Thr627=)
|
|
|
NM_014363.6(SACS):c.1887G>A (p.Ala629=)
|
rs772895627
|
|
NM_014363.6(SACS):c.1887G>C (p.Ala629=)
|
|
|
NM_014363.6(SACS):c.1893G>A (p.Val631=)
|
|
|
NM_014363.6(SACS):c.1894C>A (p.Arg632=)
|
|
|
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
|
|
|
NM_014363.6(SACS):c.18C>T (p.Asn6=)
|
rs2137962175
|
|
NM_014363.6(SACS):c.1908G>A (p.Arg636=)
|
rs758017143
|
|
NM_014363.6(SACS):c.1911G>A (p.Lys637=)
|
|
|
NM_014363.6(SACS):c.1914T>C (p.Cys638=)
|
|
|
NM_014363.6(SACS):c.1920C>T (p.His640=)
|
rs1870214029
|
|
NM_014363.6(SACS):c.1923G>C (p.Leu641=)
|
|
|
NM_014363.6(SACS):c.193G>A (p.Gly65Arg)
|
|
|
NM_014363.6(SACS):c.1947C>T (p.His649=)
|
|
|
NM_014363.6(SACS):c.194G>A (p.Gly65Glu)
|
|
|
NM_014363.6(SACS):c.1950T>C (p.Leu650=)
|
rs2137717099
|
|
NM_014363.6(SACS):c.1956A>G (p.Glu652=)
|
|
|
NM_014363.6(SACS):c.1977C>G (p.Ala659=)
|
rs2137716894
|
|
NM_014363.6(SACS):c.1981A>G (p.Ser661Gly)
|
|
|
NM_014363.6(SACS):c.1989G>T (p.Leu663=)
|
rs942220473
|
|
NM_014363.6(SACS):c.1992T>G (p.Leu664=)
|
|
|
NM_014363.6(SACS):c.20+13A>G
|
|
|
NM_014363.6(SACS):c.20+18T>C
|
|
|
NM_014363.6(SACS):c.20+7G>T
|
|
|
NM_014363.6(SACS):c.20+9G>A
|
rs749087846
|
|
NM_014363.6(SACS):c.2004G>T (p.Leu668=)
|
|
|
NM_014363.6(SACS):c.2019T>C (p.Asn673=)
|
|
|
NM_014363.6(SACS):c.201G>C (p.Leu67=)
|
|
|
NM_014363.6(SACS):c.2028T>C (p.Phe676=)
|
|
|
NM_014363.6(SACS):c.2031C>G (p.Val677=)
|
|
|
NM_014363.6(SACS):c.2034C>A (p.Pro678=)
|
rs772289878
|
|
NM_014363.6(SACS):c.2034C>T (p.Pro678=)
|
rs772289878
|
|
NM_014363.6(SACS):c.2043A>C (p.Ser681=)
|
|
|
NM_014363.6(SACS):c.2043A>G (p.Ser681=)
|
|
|
NM_014363.6(SACS):c.204T>A (p.Thr68=)
|
|
|
NM_014363.6(SACS):c.205T>G (p.Ser69Ala)
|
|
|
NM_014363.6(SACS):c.2064C>T (p.Val688=)
|
rs2137716067
|
|
NM_014363.6(SACS):c.2075C>A (p.Thr692Asn)
|
|
|
NM_014363.6(SACS):c.2076C>T (p.Thr692=)
|
|
|
NM_014363.6(SACS):c.207C>T (p.Ser69=)
|
rs2137815615
|
|
NM_014363.6(SACS):c.2085A>G (p.Glu695=)
|
rs1381278603
|
|
NM_014363.6(SACS):c.2093+19A>G
|
|
|
NM_014363.6(SACS):c.2093+7G>T
|
|
|
NM_014363.6(SACS):c.2093+8T>G
|
|
|
NM_014363.6(SACS):c.2093+9C>A
|
rs1870192787
|
|
NM_014363.6(SACS):c.2093+9C>T
|
|
|
NM_014363.6(SACS):c.2094-10C>G
|
|
|
NM_014363.6(SACS):c.2094-12_2094-11dup
|
|
|
NM_014363.6(SACS):c.2094-14C>T
|
rs886038601
|
|
NM_014363.6(SACS):c.2094-8C>T
|
rs1870138596
|
|
NM_014363.6(SACS):c.2094-9C>T
|
rs1870138747
|
|
NM_014363.6(SACS):c.2097C>T (p.Ser699=)
|
|
|
NM_014363.6(SACS):c.21-10C>G
|
rs1186179760
|
|
NM_014363.6(SACS):c.21-10C>T
|
rs1186179760
|
|
NM_014363.6(SACS):c.21-11G>A
|
|
|
NM_014363.6(SACS):c.21-11G>C
|
|
|
NM_014363.6(SACS):c.21-13C>T
|
|
|
NM_014363.6(SACS):c.21-15C>T
|
|
|
NM_014363.6(SACS):c.21-15CT[4]
|
|
|
NM_014363.6(SACS):c.21-16C>T
|
|
|
NM_014363.6(SACS):c.21-17C>T
|
|
|
NM_014363.6(SACS):c.21-18T>C
|
|
|
NM_014363.6(SACS):c.21-6C>T
|
|
|
NM_014363.6(SACS):c.21-8T>C
|
rs1871685627
|
|
NM_014363.6(SACS):c.2106A>G (p.Pro702=)
|
|
|
NM_014363.6(SACS):c.210A>G (p.Lys70=)
|
rs2137815590
|
|
NM_014363.6(SACS):c.2112T>C (p.Leu704=)
|
rs1870135106
|
|
NM_014363.6(SACS):c.2112T>G (p.Leu704=)
|
|
|
NM_014363.6(SACS):c.2115A>G (p.Glu705=)
|
rs2137710672
|
|
NM_014363.6(SACS):c.2123T>A (p.Phe708Tyr)
|
|
|
NM_014363.6(SACS):c.2125A>G (p.Ile709Val)
|
|
|
NM_014363.6(SACS):c.2132A>G (p.Asp711Gly)
|
|
|
NM_014363.6(SACS):c.2136C>T (p.Asn712=)
|
|
|
NM_014363.6(SACS):c.2145T>G (p.Pro715=)
|
rs1870132046
|
|
NM_014363.6(SACS):c.2149C>T (p.Leu717Phe)
|
|
|
NM_014363.6(SACS):c.2156C>T (p.Ala719Val)
|
|
|
NM_014363.6(SACS):c.2163A>G (p.Leu721=)
|
rs1471003728
|
|
NM_014363.6(SACS):c.2175C>T (p.Ala725=)
|
rs756363296
|
|
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
|
|
|
NM_014363.6(SACS):c.2181C>T (p.Thr727=)
|
|
|
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)
|
rs752059006
|
|
NM_014363.6(SACS):c.2185+18T>C
|
|
|
NM_014363.6(SACS):c.2185+8A>G
|
rs1870126120
|
|
NM_014363.6(SACS):c.2185+9G>A
|
rs2137709802
|
|
NM_014363.6(SACS):c.2186-15G>C
|
|
|
NM_014363.6(SACS):c.2186-18T>G
|
|
|
NM_014363.6(SACS):c.2186-19T>G
|
|
|
NM_014363.6(SACS):c.2186-6T>C
|
rs2137646278
|
|
NM_014363.6(SACS):c.2186-7T>C
|
|
|
NM_014363.6(SACS):c.2186-8A>G
|
rs2137646308
|
|
NM_014363.6(SACS):c.2202G>A (p.Gln734=)
|
|
|
NM_014363.6(SACS):c.2203C>T (p.Leu735=)
|
rs1462906765
|
|
NM_014363.6(SACS):c.2212C>T (p.Leu738=)
|
rs2137646064
|
|
NM_014363.6(SACS):c.2220A>C (p.Pro740=)
|
|
|
NM_014363.6(SACS):c.2220A>G (p.Pro740=)
|
rs772849329
|
|
NM_014363.6(SACS):c.2220A>T (p.Pro740=)
|
rs772849329
|
|
NM_014363.6(SACS):c.2223A>G (p.Glu741=)
|
rs1203567131
|
|
NM_014363.6(SACS):c.2232A>C (p.Ala744=)
|
|
|
NM_014363.6(SACS):c.2233C>A (p.Arg745Ser)
|
|
|
NM_014363.6(SACS):c.2240T>C (p.Ile747Thr)
|
|
|
NM_014363.6(SACS):c.2244G>A (p.Lys748=)
|
|
|
NM_014363.6(SACS):c.2247A>G (p.Glu749=)
|
|
|
NM_014363.6(SACS):c.2274A>G (p.Arg758=)
|
|
|
NM_014363.6(SACS):c.2280G>A (p.Leu760=)
|
rs2137645428
|
|
NM_014363.6(SACS):c.2295T>C (p.Tyr765=)
|
rs2137645257
|
|
NM_014363.6(SACS):c.2298A>G (p.Pro766=)
|
|
|
NM_014363.6(SACS):c.2315A>C (p.Asn772Thr)
|
|
|
NM_014363.6(SACS):c.2316T>C (p.Asn772=)
|
rs2137645108
|
|
NM_014363.6(SACS):c.2322A>G (p.Pro774=)
|
rs1869225328
|
|
NM_014363.6(SACS):c.2340G>A (p.Lys780=)
|
|
|
NM_014363.6(SACS):c.2346T>C (p.Val782=)
|
rs1353395473
|
|
NM_014363.6(SACS):c.2352A>G (p.Lys784=)
|
rs2137644764
|
|
NM_014363.6(SACS):c.2356C>A (p.Leu786Ile)
|
rs267603782
|
|
NM_014363.6(SACS):c.2358T>G (p.Leu786=)
|
|
|
NM_014363.6(SACS):c.2360A>G (p.Tyr787Cys)
|
|
|
NM_014363.6(SACS):c.2373A>G (p.Ser791=)
|
rs2137644572
|
|
NM_014363.6(SACS):c.2382G>A (p.Leu794=)
|
|
|
NM_014363.6(SACS):c.2419A>G (p.Ile807Val)
|
|
|
NM_014363.6(SACS):c.2422C>T (p.Leu808=)
|
|
|
NM_014363.6(SACS):c.2425G>C (p.Glu809Gln)
|
|
|
NM_014363.6(SACS):c.2427G>A (p.Glu809=)
|
rs878854978
|
|
NM_014363.6(SACS):c.2432G>A (p.Gly811Asp)
|
|
|
NM_014363.6(SACS):c.2460C>G (p.Leu820=)
|
rs761330691
|
|
NM_014363.6(SACS):c.2469A>G (p.Pro823=)
|
|
|
NM_014363.6(SACS):c.2475A>G (p.Leu825=)
|
|
|
NM_014363.6(SACS):c.2478C>G (p.Val826=)
|
rs2137643652
|
|
NM_014363.6(SACS):c.247T>C (p.Leu83=)
|
rs1470292816
|
|
NM_014363.6(SACS):c.2490T>C (p.Asp830=)
|
rs1486997377
|
|
NM_014363.6(SACS):c.2511A>G (p.Pro837=)
|
|
|
NM_014363.6(SACS):c.2524G>C (p.Asp842His)
|
|
|
NM_014363.6(SACS):c.2532A>T (p.Val844=)
|
rs756542648
|
|
NM_014363.6(SACS):c.2534A>G (p.Gln845Arg)
|
|
|
NM_014363.6(SACS):c.2538A>G (p.Lys846=)
|
rs1869196715
|
|
NM_014363.6(SACS):c.2548T>C (p.Phe850Leu)
|
|
|
NM_014363.6(SACS):c.2563T>C (p.Leu855=)
|
|
|
NM_014363.6(SACS):c.2565A>C (p.Leu855Phe)
|
|
|
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
|
|
|
NM_014363.6(SACS):c.2574T>G (p.Ser858=)
|
|
|
NM_014363.6(SACS):c.2575A>G (p.Ile859Val)
|
|
|
NM_014363.6(SACS):c.2583T>C (p.His861=)
|
rs2137642719
|
|
NM_014363.6(SACS):c.259+10T>G
|
|
|
NM_014363.6(SACS):c.259+19C>G
|
|
|
NM_014363.6(SACS):c.260-13C>T
|
|
|
NM_014363.6(SACS):c.260-18A>T
|
|
|
NM_014363.6(SACS):c.260-19_260-18del
|
|
|
NM_014363.6(SACS):c.260-7A>G
|
|
|
NM_014363.6(SACS):c.2613A>G (p.Pro871=)
|
rs2137642425
|
|
NM_014363.6(SACS):c.2616A>G (p.Leu872=)
|
rs1869187977
|
|
NM_014363.6(SACS):c.2619A>G (p.Pro873=)
|
|
|
NM_014363.6(SACS):c.261T>A (p.Gly87=)
|
rs2137800346
|
|
NM_014363.6(SACS):c.2621G>A (p.Ser874Asn)
|
|
|
NM_014363.6(SACS):c.263G>A (p.Arg88Gln)
|
|
|
NM_014363.6(SACS):c.2649G>A (p.Met883Ile)
|
|
|
NM_014363.6(SACS):c.264A>G (p.Arg88=)
|
|
|
NM_014363.6(SACS):c.2652A>T (p.Pro884=)
|
rs751143652
|
|
NM_014363.6(SACS):c.2655G>A (p.Leu885=)
|
rs2137642005
|
|
NM_014363.6(SACS):c.2658G>A (p.Gln886=)
|
|
|
NM_014363.6(SACS):c.2658G>T (p.Gln886His)
|
|
|
NM_014363.6(SACS):c.2661A>G (p.Lys887=)
|
rs2137641940
|
|
NM_014363.6(SACS):c.2662T>C (p.Leu888=)
|
rs1212223678
|
|
NM_014363.6(SACS):c.2664G>A (p.Leu888=)
|
|
|
NM_014363.6(SACS):c.2670T>C (p.Asn890=)
|
|
|
NM_014363.6(SACS):c.2682G>T (p.Ser894=)
|
rs369958174
|
|
NM_014363.6(SACS):c.2683C>T (p.Leu895=)
|
|
|
NM_014363.6(SACS):c.2691A>G (p.Pro897=)
|
rs2137641711
|
|
NM_014363.6(SACS):c.2695C>A (p.His899Asn)
|
|
|
NM_014363.6(SACS):c.2695C>G (p.His899Asp)
|
|
|
NM_014363.6(SACS):c.270T>G (p.Gly90=)
|
|
|
NM_014363.6(SACS):c.2734G>A (p.Asp912Asn)
|
|
|
NM_014363.6(SACS):c.2759T>C (p.Ile920Thr)
|
|
|
NM_014363.6(SACS):c.2770T>C (p.Leu924=)
|
rs1869169717
|
|
NM_014363.6(SACS):c.277A>G (p.Thr93Ala)
|
|
|
NM_014363.6(SACS):c.2786G>A (p.Arg929His)
|
|
|
NM_014363.6(SACS):c.2786G>T (p.Arg929Leu)
|
|
|
NM_014363.6(SACS):c.2787C>T (p.Arg929=)
|
|
|
NM_014363.6(SACS):c.278C>T (p.Thr93Met)
|
|
|
NM_014363.6(SACS):c.2799T>C (p.Ser933=)
|
|
|
NM_014363.6(SACS):c.2812A>G (p.Ile938Val)
|
|
|
NM_014363.6(SACS):c.2814T>C (p.Ile938=)
|
rs909826115
|
|
NM_014363.6(SACS):c.2817C>G (p.Ser939=)
|
|
|
NM_014363.6(SACS):c.2820T>G (p.Ser940=)
|
|
|
NM_014363.6(SACS):c.2823T>C (p.Tyr941=)
|
rs2137640553
|
|
NM_014363.6(SACS):c.2825C>T (p.Thr942Ile)
|
|
|
NM_014363.6(SACS):c.2828A>C (p.Lys943Thr)
|
|
|
NM_014363.6(SACS):c.2847C>T (p.Val949=)
|
rs750136982
|
|
NM_014363.6(SACS):c.2851C>A (p.His951Asn)
|
|
|
NM_014363.6(SACS):c.2851C>G (p.His951Asp)
|
|
|
NM_014363.6(SACS):c.2854C>T (p.His952Tyr)
|
|
|
NM_014363.6(SACS):c.285A>G (p.Pro95=)
|
|
|
NM_014363.6(SACS):c.2883A>G (p.Arg961=)
|
rs2137639984
|
|
NM_014363.6(SACS):c.288T>C (p.Leu96=)
|
rs1593155706
|
|
NM_014363.6(SACS):c.2890A>G (p.Ile964Val)
|
|
|
NM_014363.6(SACS):c.2895A>G (p.Ser965=)
|
|
|
NM_014363.6(SACS):c.2900T>C (p.Ile967Thr)
|
|
|
NM_014363.6(SACS):c.2904C>T (p.Asp968=)
|
rs149585868
|
|
NM_014363.6(SACS):c.2906G>A (p.Ser969Asn)
|
|
|
NM_014363.6(SACS):c.2918C>G (p.Ala973Gly)
|
|
|
NM_014363.6(SACS):c.2919T>C (p.Ala973=)
|
|
|
NM_014363.6(SACS):c.291T>G (p.Val97=)
|
|
|
NM_014363.6(SACS):c.2923A>G (p.Ile975Val)
|
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
NM_014363.6(SACS):c.2938A>C (p.Met980Leu)
|
|
|
NM_014363.6(SACS):c.2947A>G (p.Ile983Val)
|
|
|
NM_014363.6(SACS):c.2958A>G (p.Leu986=)
|
rs1310471595
|
|
NM_014363.6(SACS):c.2964C>G (p.Thr988=)
|
rs2137639334
|
|
NM_014363.6(SACS):c.2974T>C (p.Leu992=)
|
rs2137639266
|
|
NM_014363.6(SACS):c.2982T>C (p.Leu994=)
|
|
|
NM_014363.6(SACS):c.29C>T (p.Pro10Leu)
|
|
|
NM_014363.6(SACS):c.3018T>A (p.His1006Gln)
|
|
|
NM_014363.6(SACS):c.3054G>A (p.Glu1018=)
|
|
|
NM_014363.6(SACS):c.3060A>C (p.Leu1020=)
|
rs746764976
|
|
NM_014363.6(SACS):c.3063T>G (p.Ser1021=)
|
|
|
NM_014363.6(SACS):c.306C>T (p.Asp102=)
|
|
|
NM_014363.6(SACS):c.3082C>T (p.Pro1028Ser)
|
|
|
NM_014363.6(SACS):c.3083C>T (p.Pro1028Leu)
|
|
|
NM_014363.6(SACS):c.3108A>G (p.Pro1036=)
|
|
|
NM_014363.6(SACS):c.3109T>C (p.Leu1037=)
|
|
|
NM_014363.6(SACS):c.3120C>T (p.Ile1040=)
|
|
|
NM_014363.6(SACS):c.3126A>T (p.Ile1042=)
|
|
|
NM_014363.6(SACS):c.313A>C (p.Arg105=)
|
|
|
NM_014363.6(SACS):c.3144A>T (p.Val1048=)
|
rs3751369
|
|
NM_014363.6(SACS):c.314G>A (p.Arg105Lys)
|
|
|
NM_014363.6(SACS):c.3156A>G (p.Glu1052=)
|
|
|
NM_014363.6(SACS):c.3159C>G (p.Leu1053=)
|
|
|
NM_014363.6(SACS):c.3165C>T (p.Asp1055=)
|
rs1178311878
|
|
NM_014363.6(SACS):c.3181C>T (p.Leu1061=)
|
|
|
NM_014363.6(SACS):c.3186G>A (p.Lys1062=)
|
rs2137637701
|
|
NM_014363.6(SACS):c.3193T>C (p.Phe1065Leu)
|
|
|
NM_014363.6(SACS):c.3195T>C (p.Phe1065=)
|
|
|
NM_014363.6(SACS):c.3197G>T (p.Cys1066Phe)
|
|
|
NM_014363.6(SACS):c.3200A>G (p.Asn1067Ser)
|
|
|
NM_014363.6(SACS):c.3210A>G (p.Gly1070=)
|
rs2137637430
|
|
NM_014363.6(SACS):c.3213C>G (p.Thr1071=)
|
|
|
NM_014363.6(SACS):c.3224C>T (p.Pro1075Leu)
|
|
|
NM_014363.6(SACS):c.3237C>T (p.Thr1079=)
|
|
|
NM_014363.6(SACS):c.3240A>C (p.Ser1080=)
|
|
|
NM_014363.6(SACS):c.3243A>G (p.Pro1081=)
|
rs2137637229
|
|
NM_014363.6(SACS):c.3248T>C (p.Ile1083Thr)
|
|
|
NM_014363.6(SACS):c.3255C>T (p.His1085=)
|
rs1593132908
|
|
NM_014363.6(SACS):c.3258C>T (p.Ser1086=)
|
rs1593132899
|
|
NM_014363.6(SACS):c.3270T>C (p.Ile1090=)
|
|
|
NM_014363.6(SACS):c.327A>G (p.Glu109=)
|
rs1285304667
|
|
NM_014363.6(SACS):c.3283G>A (p.Glu1095Lys)
|
|
|
NM_014363.6(SACS):c.3294C>T (p.Leu1098=)
|
rs1208321395
|
|
NM_014363.6(SACS):c.3304G>A (p.Asp1102Asn)
|
|
|
NM_014363.6(SACS):c.3306T>C (p.Asp1102=)
|
rs759288724
|
|
NM_014363.6(SACS):c.3309T>C (p.Val1103=)
|
rs2137636612
|
|
NM_014363.6(SACS):c.3312G>T (p.Val1104=)
|
rs2137636594
|
|
NM_014363.6(SACS):c.3321A>C (p.Ala1107=)
|
rs1224754869
|
|
NM_014363.6(SACS):c.3336C>T (p.Ala1112=)
|
|
|
NM_014363.6(SACS):c.3339A>G (p.Leu1113=)
|
rs773184162
|
|
NM_014363.6(SACS):c.3347G>T (p.Gly1116Val)
|
|
|
NM_014363.6(SACS):c.3357T>C (p.Pro1119=)
|
|
|
NM_014363.6(SACS):c.3375G>A (p.Leu1125=)
|
|
|
NM_014363.6(SACS):c.3390C>T (p.Thr1130=)
|
rs1017213900
|
|
NM_014363.6(SACS):c.3391C>G (p.Leu1131Val)
|
|
|
NM_014363.6(SACS):c.3396A>T (p.Leu1132Phe)
|
|
|
NM_014363.6(SACS):c.3401T>C (p.Val1134Ala)
|
|
|
NM_014363.6(SACS):c.3426G>A (p.Leu1142=)
|
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.3429A>G (p.Gln1143=)
|
rs1869096503
|
|
NM_014363.6(SACS):c.3443A>G (p.Lys1148Arg)
|
|
|
NM_014363.6(SACS):c.345+10_345+11del
|
rs2137799720
|
|
NM_014363.6(SACS):c.345+14C>G
|
|
|
NM_014363.6(SACS):c.345+15G>A
|
|
|
NM_014363.6(SACS):c.345+15G>T
|
|
|
NM_014363.6(SACS):c.345+17G>A
|
|
|
NM_014363.6(SACS):c.345+20C>G
|
|
|
NM_014363.6(SACS):c.345+7C>T
|
|
|
NM_014363.6(SACS):c.345+8A>C
|
rs2137799749
|
|
NM_014363.6(SACS):c.3451T>C (p.Leu1151=)
|
rs2137635256
|
|
NM_014363.6(SACS):c.346-13del
|
|
|
NM_014363.6(SACS):c.346-15A>G
|
|
|
NM_014363.6(SACS):c.346-15_346-4del
|
|
|
NM_014363.6(SACS):c.346-17G>A
|
rs1417113507
|
|
NM_014363.6(SACS):c.346-17G>T
|
|
|
NM_014363.6(SACS):c.346-5G>A
|
rs80258644
|
|
NM_014363.6(SACS):c.3462A>C (p.Ile1154=)
|
rs2137635207
|
|
NM_014363.6(SACS):c.3464A>C (p.Lys1155Thr)
|
|
|
NM_014363.6(SACS):c.3465A>G (p.Lys1155=)
|
|
|
NM_014363.6(SACS):c.3472C>T (p.Pro1158Ser)
|
|
|
NM_014363.6(SACS):c.3486A>G (p.Glu1162=)
|
|
|
NM_014363.6(SACS):c.3492T>C (p.Pro1164=)
|
|
|
NM_014363.6(SACS):c.3501T>C (p.Tyr1167=)
|
rs2137634940
|
|
NM_014363.6(SACS):c.3504A>C (p.Pro1168=)
|
|
|
NM_014363.6(SACS):c.3504A>G (p.Pro1168=)
|
rs201762114
|
|
NM_014363.6(SACS):c.3511T>C (p.Leu1171=)
|
|
|
NM_014363.6(SACS):c.3513G>A (p.Leu1171=)
|
rs1254853262
|
|
NM_014363.6(SACS):c.3522A>G (p.Lys1174=)
|
|
|
NM_014363.6(SACS):c.3531C>T (p.Leu1177=)
|
rs2137634680
|
|
NM_014363.6(SACS):c.3549A>C (p.Pro1183=)
|
|
|
NM_014363.6(SACS):c.3550C>A (p.Pro1184Thr)
|
|
|
NM_014363.6(SACS):c.3564T>C (p.Asp1188=)
|
|
|
NM_014363.6(SACS):c.3569G>C (p.Gly1190Ala)
|
|
|
NM_014363.6(SACS):c.3571C>T (p.His1191Tyr)
|
|
|
NM_014363.6(SACS):c.3577A>G (p.Ile1193Val)
|
|
|
NM_014363.6(SACS):c.357G>A (p.Gln119=)
|
rs2137782233
|
|
NM_014363.6(SACS):c.3582C>T (p.Leu1194=)
|
|
|
NM_014363.6(SACS):c.3583A>G (p.Ile1195Val)
|
|
|
NM_014363.6(SACS):c.3591C>T (p.Ser1197=)
|
rs141920204
|
|
NM_014363.6(SACS):c.360T>C (p.Asn120=)
|
|
|
NM_014363.6(SACS):c.3612T>C (p.Ser1204=)
|
rs2137633912
|
|
NM_014363.6(SACS):c.3616C>T (p.His1206Tyr)
|
|
|
NM_014363.6(SACS):c.3624C>T (p.Asn1208=)
|
rs2137633783
|
|
NM_014363.6(SACS):c.3625C>T (p.Leu1209=)
|
|
|
NM_014363.6(SACS):c.363A>G (p.Ala121=)
|
rs2137782203
|
|
NM_014363.6(SACS):c.3642G>A (p.Gly1214=)
|
|
|
NM_014363.6(SACS):c.3645C>T (p.Ile1215=)
|
|
|
NM_014363.6(SACS):c.3650C>G (p.Thr1217Arg)
|
|
|
NM_014363.6(SACS):c.3666T>C (p.Ser1222=)
|
rs370248518
|
|
NM_014363.6(SACS):c.3669T>C (p.Ala1223=)
|
|
|
NM_014363.6(SACS):c.3684T>C (p.Phe1228=)
|
|
|
NM_014363.6(SACS):c.3693T>C (p.Val1231=)
|
rs1593132311
|
|
NM_014363.6(SACS):c.3699T>C (p.Asp1233=)
|
|
|
NM_014363.6(SACS):c.36C>G (p.Thr12=)
|
|
|
NM_014363.6(SACS):c.3703T>C (p.Tyr1235His)
|
|
|
NM_014363.6(SACS):c.3729A>C (p.Glu1243Asp)
|
|
|
NM_014363.6(SACS):c.372T>G (p.Ala124=)
|
rs2137782128
|
|
NM_014363.6(SACS):c.3732C>T (p.Asp1244=)
|
rs1369858587
|
|
NM_014363.6(SACS):c.3734A>G (p.Tyr1245Cys)
|
|
|
NM_014363.6(SACS):c.374G>C (p.Gly125Ala)
|
|
|
NM_014363.6(SACS):c.3769G>A (p.Gly1257Arg)
|
|
|
NM_014363.6(SACS):c.3778C>G (p.His1260Asp)
|
|
|
NM_014363.6(SACS):c.3778C>T (p.His1260Tyr)
|
|
|
NM_014363.6(SACS):c.3780T>C (p.His1260=)
|
rs2137632626
|
|
NM_014363.6(SACS):c.3783T>C (p.Asp1261=)
|
|
|
NM_014363.6(SACS):c.378G>A (p.Ala126=)
|
rs574747100
|
|
NM_014363.6(SACS):c.378G>T (p.Ala126=)
|
rs574747100
|
|
NM_014363.6(SACS):c.3797G>A (p.Gly1266Glu)
|
|
|
NM_014363.6(SACS):c.3798G>T (p.Gly1266=)
|
|
|
NM_014363.6(SACS):c.3810T>C (p.Phe1270=)
|
|
|
NM_014363.6(SACS):c.3816C>G (p.Ala1272=)
|
rs2137632367
|
|
NM_014363.6(SACS):c.3822A>G (p.Lys1274=)
|
|
|
NM_014363.6(SACS):c.3832G>A (p.Val1278Ile)
|
|
|
NM_014363.6(SACS):c.3840T>G (p.Thr1280=)
|
|
|
NM_014363.6(SACS):c.3849G>A (p.Lys1283=)
|
|
|
NM_014363.6(SACS):c.3849G>C (p.Lys1283Asn)
|
|
|
NM_014363.6(SACS):c.3858A>G (p.Pro1286=)
|
|
|
NM_014363.6(SACS):c.3864C>T (p.Ala1288=)
|
rs2137631977
|
|
NM_014363.6(SACS):c.3873G>T (p.Val1291=)
|
|
|
NM_014363.6(SACS):c.3876T>C (p.Ile1292=)
|
|
|
NM_014363.6(SACS):c.3909T>C (p.Tyr1303=)
|
rs765281722
|
|
NM_014363.6(SACS):c.3912G>A (p.Leu1304=)
|
rs753675356
|
|
NM_014363.6(SACS):c.3915T>C (p.His1305=)
|
rs767598017
|
|
NM_014363.6(SACS):c.3930C>A (p.Thr1310=)
|
rs1593132012
|
|
NM_014363.6(SACS):c.3948A>G (p.Gln1316=)
|
|
|
NM_014363.6(SACS):c.3949C>T (p.Leu1317=)
|
|
|
NM_014363.6(SACS):c.394T>C (p.Leu132=)
|
rs553107347
|
|
NM_014363.6(SACS):c.3963T>C (p.Cys1321=)
|
|
|
NM_014363.6(SACS):c.3970A>G (p.Ile1324Val)
|
|
|
NM_014363.6(SACS):c.397T>C (p.Tyr133His)
|
|
|
NM_014363.6(SACS):c.3991C>A (p.His1331Asn)
|
|
|
NM_014363.6(SACS):c.399T>C (p.Tyr133=)
|
rs755837406
|
|
NM_014363.6(SACS):c.39G>C (p.Val13=)
|
|
|
NM_014363.6(SACS):c.4003G>A (p.Val1335Ile)
|
|
|
NM_014363.6(SACS):c.4011G>A (p.Gln1337=)
|
|
|
NM_014363.6(SACS):c.4025A>G (p.Lys1342Arg)
|
|
|
NM_014363.6(SACS):c.402T>C (p.Asp134=)
|
rs1870988230
|
|
NM_014363.6(SACS):c.4036G>C (p.Asp1346His)
|
rs753529923
|
|
NM_014363.6(SACS):c.4038T>C (p.Asp1346=)
|
rs2137630805
|
|
NM_014363.6(SACS):c.4069C>A (p.His1357Asn)
|
|
|
NM_014363.6(SACS):c.4098G>T (p.Leu1366=)
|
|
|
NM_014363.6(SACS):c.4107T>C (p.Asn1369=)
|
rs2137630300
|
|
NM_014363.6(SACS):c.4113T>A (p.Ile1371=)
|
rs1395418477
|
|
NM_014363.6(SACS):c.411A>G (p.Gln137=)
|
|
|
NM_014363.6(SACS):c.4143A>T (p.Ile1381=)
|
rs2137630038
|
|
NM_014363.6(SACS):c.4145A>G (p.His1382Arg)
|
rs550057119
|
|
NM_014363.6(SACS):c.4154A>G (p.Lys1385Arg)
|
|
|
NM_014363.6(SACS):c.4161T>C (p.Pro1387=)
|
rs2137629827
|
|
NM_014363.6(SACS):c.4161T>G (p.Pro1387=)
|
rs2137629827
|
|
NM_014363.6(SACS):c.416G>A (p.Gly139Glu)
|
|
|
NM_014363.6(SACS):c.4173C>A (p.Ile1391=)
|
|
|
NM_014363.6(SACS):c.4186C>A (p.His1396Asn)
|
|
|
NM_014363.6(SACS):c.4189G>A (p.Glu1397Lys)
|
|
|
NM_014363.6(SACS):c.4206C>T (p.Asp1402=)
|
|
|
NM_014363.6(SACS):c.4209T>A (p.Ile1403=)
|
rs1869011953
|
|
NM_014363.6(SACS):c.420A>C (p.Thr140=)
|
|
|
NM_014363.6(SACS):c.4215T>C (p.Val1405=)
|
rs1869011481
|
|
NM_014363.6(SACS):c.4221C>T (p.Asp1407=)
|
|
|
NM_014363.6(SACS):c.423G>A (p.Glu141=)
|
|
|
NM_014363.6(SACS):c.4248G>A (p.Val1416=)
|
|
|
NM_014363.6(SACS):c.4251A>G (p.Glu1417=)
|
|
|
NM_014363.6(SACS):c.4261T>C (p.Leu1421=)
|
rs2137629081
|
|
NM_014363.6(SACS):c.426T>C (p.Thr142=)
|
|
|
NM_014363.6(SACS):c.426T>G (p.Thr142=)
|
rs1168227480
|
|
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)
|
rs527513599
|
|
NM_014363.6(SACS):c.4293A>G (p.Ala1431=)
|
rs1435062134
|
|
NM_014363.6(SACS):c.42C>G (p.Leu14=)
|
rs2137841455
|
|
NM_014363.6(SACS):c.42C>T (p.Leu14=)
|
rs2137841455
|
|
NM_014363.6(SACS):c.4300C>T (p.Leu1434=)
|
|
|
NM_014363.6(SACS):c.4311A>G (p.Pro1437=)
|
|
|
NM_014363.6(SACS):c.4314C>T (p.Cys1438=)
|
rs2137628638
|
|
NM_014363.6(SACS):c.4341A>G (p.Glu1447=)
|
|
|
NM_014363.6(SACS):c.4354G>A (p.Glu1452Lys)
|
|
|
NM_014363.6(SACS):c.4356G>A (p.Glu1452=)
|
rs2137628388
|
|
NM_014363.6(SACS):c.4359G>A (p.Gln1453=)
|
|
|
NM_014363.6(SACS):c.435A>G (p.Ser145=)
|
rs1870983913
|
|
NM_014363.6(SACS):c.4377A>C (p.Pro1459=)
|
|
|
NM_014363.6(SACS):c.4383T>C (p.Thr1461=)
|
rs2137628150
|
|
NM_014363.6(SACS):c.4413C>T (p.Tyr1471=)
|
rs2137627934
|
|
NM_014363.6(SACS):c.4414C>A (p.Pro1472Thr)
|
|
|
NM_014363.6(SACS):c.442A>G (p.Met148Val)
|
|
|
NM_014363.6(SACS):c.4434T>C (p.Phe1478=)
|
rs545103369
|
|
NM_014363.6(SACS):c.4437A>G (p.Lys1479=)
|
|
|
NM_014363.6(SACS):c.4440A>G (p.Glu1480=)
|
rs1477679960
|
|
NM_014363.6(SACS):c.4441C>T (p.Leu1481=)
|
|
|
NM_014363.6(SACS):c.4443A>G (p.Leu1481=)
|
|
|
NM_014363.6(SACS):c.4465A>C (p.Asn1489His)
|
|
|
NM_014363.6(SACS):c.4465A>G (p.Asn1489Asp)
|
|
|
NM_014363.6(SACS):c.4473A>G (p.Thr1491=)
|
|
|
NM_014363.6(SACS):c.4479C>T (p.Cys1493=)
|
rs1208272610
|
|
NM_014363.6(SACS):c.4482T>C (p.Ser1494=)
|
|
|
NM_014363.6(SACS):c.4488G>A (p.Leu1496=)
|
rs770743092
|
|
NM_014363.6(SACS):c.4489A>G (p.Ile1497Val)
|
|
|
NM_014363.6(SACS):c.4491T>G (p.Ile1497Met)
|
|
|
NM_014363.6(SACS):c.4495A>T (p.Met1499Leu)
|
|
|
NM_014363.6(SACS):c.4501A>C (p.Arg1501=)
|
|
|
NM_014363.6(SACS):c.4507A>G (p.Met1503Val)
|
|
|
NM_014363.6(SACS):c.450A>G (p.Pro150=)
|
|
|
NM_014363.6(SACS):c.4536A>G (p.Pro1512=)
|
rs1458404801
|
|
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
|
|
|
NM_014363.6(SACS):c.4539G>A (p.Gly1513=)
|
rs2137626779
|
|
NM_014363.6(SACS):c.453T>C (p.Tyr151=)
|
|
|
NM_014363.6(SACS):c.457+14A>G
|
|
|
NM_014363.6(SACS):c.457+17A>G
|
|
|
NM_014363.6(SACS):c.457+7A>G
|
|
|
NM_014363.6(SACS):c.457+9C>A
|
rs2137781156
|
|
NM_014363.6(SACS):c.4578C>T (p.Asn1526=)
|
rs2137626534
|
|
NM_014363.6(SACS):c.458-15C>T
|
|
|
NM_014363.6(SACS):c.458-16G>A
|
|
|
NM_014363.6(SACS):c.458-20C>T
|
|
|
NM_014363.6(SACS):c.458-5C>T
|
rs2137743552
|
|
NM_014363.6(SACS):c.458-6A>G
|
rs2137743565
|
|
NM_014363.6(SACS):c.458-8A>G
|
rs2137743585
|
|
NM_014363.6(SACS):c.4583C>G (p.Ser1528Cys)
|
|
|
NM_014363.6(SACS):c.4592C>T (p.Ser1531Leu)
|
|
|
NM_014363.6(SACS):c.459G>T (p.Gly153=)
|
|
|
NM_014363.6(SACS):c.45C>G (p.Pro15=)
|
rs1231894975
|
|
NM_014363.6(SACS):c.45C>T (p.Pro15=)
|
rs1231894975
|
|
NM_014363.6(SACS):c.4605T>G (p.Phe1535Leu)
|
|
|
NM_014363.6(SACS):c.4606G>A (p.Val1536Met)
|
|
|
NM_014363.6(SACS):c.4614A>T (p.Ile1538=)
|
rs2137626085
|
|
NM_014363.6(SACS):c.4621T>C (p.Leu1541=)
|
|
|
NM_014363.6(SACS):c.4632T>C (p.Ser1544=)
|
rs746782287
|
|
NM_014363.6(SACS):c.4652A>G (p.Asp1551Gly)
|
|
|
NM_014363.6(SACS):c.4656A>G (p.Lys1552=)
|
|
|
NM_014363.6(SACS):c.4668T>C (p.Phe1556=)
|
rs2137625592
|
|
NM_014363.6(SACS):c.4671T>C (p.Gly1557=)
|
|
|
NM_014363.6(SACS):c.4674T>C (p.Leu1558=)
|
|
|
NM_014363.6(SACS):c.4686T>G (p.Ser1562=)
|
|
|
NM_014363.6(SACS):c.4695T>C (p.His1565=)
|
|
|
NM_014363.6(SACS):c.4698C>A (p.Ile1566=)
|
|
|
NM_014363.6(SACS):c.4698C>T (p.Ile1566=)
|
rs1868956874
|
|
NM_014363.6(SACS):c.4707T>C (p.Ile1569=)
|
rs1437241759
|
|
NM_014363.6(SACS):c.4711A>T (p.Ile1571Phe)
|
|
|
NM_014363.6(SACS):c.4755A>C (p.Ile1585=)
|
|
|
NM_014363.6(SACS):c.4770A>G (p.Lys1590=)
|
|
|
NM_014363.6(SACS):c.477C>T (p.Tyr159=)
|
rs1870531490
|
|
NM_014363.6(SACS):c.4797G>A (p.Gly1599=)
|
|
|
NM_014363.6(SACS):c.4797G>T (p.Gly1599=)
|
|
|
NM_014363.6(SACS):c.4807A>G (p.Asn1603Asp)
|
|
|
NM_014363.6(SACS):c.4821A>G (p.Gln1607=)
|
rs2137624161
|
|
NM_014363.6(SACS):c.4828A>C (p.Arg1610=)
|
rs2137624139
|
|
NM_014363.6(SACS):c.4839A>G (p.Lys1613=)
|
rs1450484419
|
|
NM_014363.6(SACS):c.4860A>G (p.Pro1620=)
|
rs747465682
|
|
NM_014363.6(SACS):c.4864A>G (p.Ile1622Val)
|
|
|
NM_014363.6(SACS):c.4869T>C (p.Asp1623=)
|
|
|
NM_014363.6(SACS):c.486G>T (p.Ala162=)
|
rs775081172
|
|
NM_014363.6(SACS):c.4870G>T (p.Val1624Leu)
|
|
|
NM_014363.6(SACS):c.4872A>G (p.Val1624=)
|
rs758775714
|
|
NM_014363.6(SACS):c.4875T>C (p.Phe1625=)
|
|
|
NM_014363.6(SACS):c.4881T>C (p.Cys1627=)
|
|
|
NM_014363.6(SACS):c.4885T>C (p.Leu1629=)
|
|
|
NM_014363.6(SACS):c.4890T>C (p.Pro1630=)
|
|
|
NM_014363.6(SACS):c.4890T>G (p.Pro1630=)
|
|
|
NM_014363.6(SACS):c.4893G>C (p.Leu1631Phe)
|
|
|
NM_014363.6(SACS):c.4894A>C (p.Thr1632Pro)
|
|
|
NM_014363.6(SACS):c.4904C>T (p.Ala1635Val)
|
|
|
NM_014363.6(SACS):c.4917T>C (p.Tyr1639=)
|
|
|
NM_014363.6(SACS):c.4920T>C (p.Asn1640=)
|
rs1868928685
|
|
NM_014363.6(SACS):c.4926C>G (p.Thr1642=)
|
rs1183192870
|
|
NM_014363.6(SACS):c.4926C>T (p.Thr1642=)
|
rs1183192870
|
|
NM_014363.6(SACS):c.4932C>T (p.Phe1644=)
|
|
|
NM_014363.6(SACS):c.4938G>T (p.Leu1646=)
|
|
|
NM_014363.6(SACS):c.4953A>G (p.Gln1651=)
|
|
|
NM_014363.6(SACS):c.495C>T (p.Thr165=)
|
rs2137743071
|
|
NM_014363.6(SACS):c.4971T>C (p.Ser1657=)
|
rs1593130707
|
|
NM_014363.6(SACS):c.4977T>C (p.Val1659=)
|
|
|
NM_014363.6(SACS):c.4982G>A (p.Ser1661Asn)
|
|
|
NM_014363.6(SACS):c.4986G>A (p.Thr1662=)
|
rs755523201
|
|
NM_014363.6(SACS):c.4986G>C (p.Thr1662=)
|
|
|
NM_014363.6(SACS):c.498A>G (p.Pro166=)
|
rs1870528398
|
|
NM_014363.6(SACS):c.4992C>T (p.Tyr1664=)
|
rs1158968797
|
|
NM_014363.6(SACS):c.5004T>C (p.Asp1668=)
|
|
|
NM_014363.6(SACS):c.5013T>A (p.Ser1671=)
|
|
|
NM_014363.6(SACS):c.5028T>C (p.Phe1676=)
|
|
|
NM_014363.6(SACS):c.5033T>A (p.Leu1678His)
|
|
|
NM_014363.6(SACS):c.5034C>T (p.Leu1678=)
|
|
|
NM_014363.6(SACS):c.5040A>G (p.Gly1680=)
|
|
|
NM_014363.6(SACS):c.5043C>T (p.His1681=)
|
rs1868915593
|
|
NM_014363.6(SACS):c.5070A>G (p.Val1690=)
|
rs773360433
|
|
NM_014363.6(SACS):c.5077A>G (p.Met1693Val)
|
|
|
NM_014363.6(SACS):c.5091C>T (p.Tyr1697=)
|
rs1868910034
|
|
NM_014363.6(SACS):c.5092T>C (p.Leu1698=)
|
|
|
NM_014363.6(SACS):c.5099T>C (p.Ile1700Thr)
|
|
|
NM_014363.6(SACS):c.5103G>A (p.Glu1701=)
|
rs2137621687
|
|
NM_014363.6(SACS):c.5104G>A (p.Glu1702Lys)
|
|
|
NM_014363.6(SACS):c.511G>A (p.Gly171Ser)
|
|
|
NM_014363.6(SACS):c.5132C>T (p.Thr1711Ile)
|
|
|
NM_014363.6(SACS):c.5151A>G (p.Lys1717=)
|
|
|
NM_014363.6(SACS):c.5154C>T (p.Ser1718=)
|
|
|
NM_014363.6(SACS):c.5170T>C (p.Leu1724=)
|
|
|
NM_014363.6(SACS):c.5173A>G (p.Asn1725Asp)
|
|
|
NM_014363.6(SACS):c.5175C>A (p.Asn1725Lys)
|
|
|
NM_014363.6(SACS):c.5175C>T (p.Asn1725=)
|
|
|
NM_014363.6(SACS):c.5178A>C (p.Thr1726=)
|
|
|
NM_014363.6(SACS):c.5179C>T (p.Pro1727Ser)
|
|
|
NM_014363.6(SACS):c.5181T>C (p.Pro1727=)
|
|
|
NM_014363.6(SACS):c.5184C>T (p.Val1728=)
|
rs766460230
|
|
NM_014363.6(SACS):c.5185T>C (p.Leu1729=)
|
|
|
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
|
|
|
NM_014363.6(SACS):c.519A>G (p.Gln173=)
|
|
|
NM_014363.6(SACS):c.5203G>A (p.Ala1735Thr)
|
|
|
NM_014363.6(SACS):c.5226C>T (p.Cys1742=)
|
rs770106641
|
|
NM_014363.6(SACS):c.5229C>T (p.Ser1743=)
|
|
|
NM_014363.6(SACS):c.5239A>C (p.Lys1747Gln)
|
|
|
NM_014363.6(SACS):c.5241A>G (p.Lys1747=)
|
rs2137620327
|
|
NM_014363.6(SACS):c.5244G>A (p.Lys1748=)
|
|
|
NM_014363.6(SACS):c.5262A>G (p.Pro1754=)
|
|
|
NM_014363.6(SACS):c.5263A>G (p.Lys1755Glu)
|
|
|
NM_014363.6(SACS):c.5277T>C (p.Ile1759=)
|
rs2137620095
|
|
NM_014363.6(SACS):c.5302C>T (p.His1768Tyr)
|
rs758381112
|
|
NM_014363.6(SACS):c.5306A>G (p.His1769Arg)
|
|
|
NM_014363.6(SACS):c.5308G>A (p.Val1770Met)
|
|
|
NM_014363.6(SACS):c.5328T>C (p.Asp1776=)
|
|
|
NM_014363.6(SACS):c.5336C>T (p.Ser1779Leu)
|
|
|
NM_014363.6(SACS):c.5340A>T (p.Pro1780=)
|
rs1195719474
|
|
NM_014363.6(SACS):c.5355A>T (p.Pro1785=)
|
|
|
NM_014363.6(SACS):c.5357A>G (p.Asp1786Gly)
|
|
|
NM_014363.6(SACS):c.535A>G (p.Arg179Gly)
|
|
|
NM_014363.6(SACS):c.5364C>T (p.Asp1788=)
|
rs770178890
|
|
NM_014363.6(SACS):c.5374C>T (p.Leu1792Phe)
|
|
|
NM_014363.6(SACS):c.5376C>A (p.Leu1792=)
|
|
|
NM_014363.6(SACS):c.5388T>G (p.Ala1796=)
|
rs770598686
|
|
NM_014363.6(SACS):c.540A>G (p.Lys180=)
|
rs999767217
|
|
NM_014363.6(SACS):c.5421G>A (p.Glu1807=)
|
rs2137619035
|
|
NM_014363.6(SACS):c.5424G>A (p.Leu1808=)
|
|
|
NM_014363.6(SACS):c.543G>A (p.Lys181=)
|
|
|
NM_014363.6(SACS):c.5443T>C (p.Cys1815Arg)
|
|
|
NM_014363.6(SACS):c.5451G>A (p.Thr1817=)
|
rs1255397727
|
|
NM_014363.6(SACS):c.5457T>G (p.Leu1819=)
|
rs2137618681
|
|
NM_014363.6(SACS):c.5460G>C (p.Leu1820=)
|
|
|
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr)
|
|
|
NM_014363.6(SACS):c.5478A>G (p.Thr1826=)
|
|
|
NM_014363.6(SACS):c.5484G>A (p.Glu1828=)
|
|
|
NM_014363.6(SACS):c.5488C>T (p.Leu1830=)
|
rs1868863069
|
|
NM_014363.6(SACS):c.5493G>A (p.Lys1831=)
|
rs1593129949
|
|
NM_014363.6(SACS):c.5496T>C (p.Phe1832=)
|
|
|
NM_014363.6(SACS):c.5499C>T (p.Ser1833=)
|
|
|
NM_014363.6(SACS):c.54G>C (p.Val18=)
|
rs1390875446
|
|
NM_014363.6(SACS):c.5505T>C (p.Ser1835=)
|
rs1868861379
|
|
NM_014363.6(SACS):c.5510G>A (p.Ser1837Asn)
|
|
|
NM_014363.6(SACS):c.5518A>C (p.Arg1840=)
|
|
|
NM_014363.6(SACS):c.5522T>C (p.Leu1841Pro)
|
|
|
NM_014363.6(SACS):c.5527C>T (p.Leu1843=)
|
rs2137618089
|
|
NM_014363.6(SACS):c.5529G>A (p.Leu1843=)
|
|
|
NM_014363.6(SACS):c.5541G>A (p.Gly1847=)
|
|
|
NM_014363.6(SACS):c.554T>G (p.Leu185Arg)
|
|
|
NM_014363.6(SACS):c.5550A>T (p.Gly1850=)
|
|
|
NM_014363.6(SACS):c.5556G>A (p.Gln1852=)
|
|
|
NM_014363.6(SACS):c.5580G>A (p.Lys1860=)
|
|
|
NM_014363.6(SACS):c.5587G>A (p.Val1863Met)
|
|
|
NM_014363.6(SACS):c.5589G>A (p.Val1863=)
|
|
|
NM_014363.6(SACS):c.5598C>T (p.His1866=)
|
rs2137617508
|
|
NM_014363.6(SACS):c.5599A>G (p.Ile1867Val)
|
|
|
NM_014363.6(SACS):c.5608G>A (p.Val1870Met)
|
|
|
NM_014363.6(SACS):c.5636A>G (p.Lys1879Arg)
|
|
|
NM_014363.6(SACS):c.5643C>G (p.Gly1881=)
|
|
|
NM_014363.6(SACS):c.5646G>A (p.Leu1882=)
|
rs927826338
|
|
NM_014363.6(SACS):c.5649A>G (p.Pro1883=)
|
|
|
NM_014363.6(SACS):c.5652T>G (p.Val1884=)
|
rs2137617009
|
|
NM_014363.6(SACS):c.5670T>C (p.Phe1890=)
|
rs2137616884
|
|
NM_014363.6(SACS):c.5679A>C (p.Thr1893=)
|
|
|
NM_014363.6(SACS):c.5679A>G (p.Thr1893=)
|
rs1414521853
|
|
NM_014363.6(SACS):c.5682A>G (p.Ser1894=)
|
|
|
NM_014363.6(SACS):c.5703A>G (p.Lys1901=)
|
|
|
NM_014363.6(SACS):c.5711C>A (p.Thr1904Lys)
|
|
|
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)
|
rs758570844
|
|
NM_014363.6(SACS):c.5712A>C (p.Thr1904=)
|
|
|
NM_014363.6(SACS):c.5727T>C (p.Asn1909=)
|
|
|
NM_014363.6(SACS):c.5730C>T (p.Thr1910=)
|
rs2137616328
|
|
NM_014363.6(SACS):c.5733G>T (p.Thr1911=)
|
|
|
NM_014363.6(SACS):c.5736C>T (p.Phe1912=)
|
rs760723369
|
|
NM_014363.6(SACS):c.573A>C (p.Gly191=)
|
|
|
NM_014363.6(SACS):c.5745T>C (p.His1915=)
|
rs750789221
|
|
NM_014363.6(SACS):c.5754G>A (p.Val1918=)
|
rs1355702259
|
|
NM_014363.6(SACS):c.5766A>G (p.Leu1922=)
|
rs1443404509
|
|
NM_014363.6(SACS):c.576T>C (p.Ile192=)
|
rs1314146678
|
|
NM_014363.6(SACS):c.5775G>A (p.Leu1925=)
|
|
|
NM_014363.6(SACS):c.5785C>A (p.Arg1929=)
|
rs141019064
|
|
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)
|
rs141019064
|
|
NM_014363.6(SACS):c.5788G>A (p.Asp1930Asn)
|
|
|
NM_014363.6(SACS):c.5794G>A (p.Ala1932Thr)
|
|
|
NM_014363.6(SACS):c.579G>T (p.Gly193=)
|
|
|
NM_014363.6(SACS):c.57C>G (p.Gly19=)
|
|
|
NM_014363.6(SACS):c.57C>T (p.Gly19=)
|
rs1394349795
|
|
NM_014363.6(SACS):c.5802T>C (p.Ser1934=)
|
|
|
NM_014363.6(SACS):c.5850T>C (p.Asp1950=)
|
|
|
NM_014363.6(SACS):c.5857C>T (p.His1953Tyr)
|
|
|
NM_014363.6(SACS):c.5863G>T (p.Asp1955Tyr)
|
|
|
NM_014363.6(SACS):c.5864A>G (p.Asp1955Gly)
|
|
|
NM_014363.6(SACS):c.5886A>G (p.Gly1962=)
|
rs1593129426
|
|
NM_014363.6(SACS):c.5886A>T (p.Gly1962=)
|
|
|
NM_014363.6(SACS):c.5892T>C (p.Tyr1964=)
|
rs2137614926
|
|
NM_014363.6(SACS):c.5896G>A (p.Asp1966Asn)
|
|
|
NM_014363.6(SACS):c.5900T>C (p.Ile1967Thr)
|
|
|
NM_014363.6(SACS):c.5919A>G (p.Lys1973=)
|
|
|
NM_014363.6(SACS):c.5937C>T (p.Phe1979=)
|
|
|
NM_014363.6(SACS):c.5944G>A (p.Gly1982Arg)
|
|
|
NM_014363.6(SACS):c.5958T>G (p.Val1986=)
|
|
|
NM_014363.6(SACS):c.5961C>T (p.Ser1987=)
|
|
|
NM_014363.6(SACS):c.5974A>C (p.Arg1992=)
|
|
|
NM_014363.6(SACS):c.597T>C (p.His199=)
|
|
|
NM_014363.6(SACS):c.5989T>A (p.Ser1997Thr)
|
|
|
NM_014363.6(SACS):c.5991T>C (p.Ser1997=)
|
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
NM_014363.6(SACS):c.604+12_604+13insATTAGATCCTCCCGAATCAACCCTGACCCCTCTCCTTCATAAATTATTCAGCTTCCTACACTATTAAAGTTTACCACAACCACCACCCCATCATACTCTTTCACCCACAGCACCAATCCTACCTCCATCGCTAACCCCACTAAAACACTCACCAAGACCTCAACCCCTGACC
|
|
|
NM_014363.6(SACS):c.604+19C>T
|
|
|
NM_014363.6(SACS):c.604+20G>A
|
|
|
NM_014363.6(SACS):c.604+9T>G
|
|
|
NM_014363.6(SACS):c.6046C>G (p.Leu2016Val)
|
|
|
NM_014363.6(SACS):c.605-15A>C
|
|
|
NM_014363.6(SACS):c.605-16A>G
|
|
|
NM_014363.6(SACS):c.605-18T>C
|
|
|
NM_014363.6(SACS):c.605-7T>C
|
rs1486783723
|
|
NM_014363.6(SACS):c.605-7T>G
|
|
|
NM_014363.6(SACS):c.6057T>C (p.Thr2019=)
|
rs1170458264
|
|
NM_014363.6(SACS):c.6060G>T (p.Gly2020=)
|
|
|
NM_014363.6(SACS):c.6063C>T (p.Ser2021=)
|
|
|
NM_014363.6(SACS):c.6092C>T (p.Ser2031Phe)
|
|
|
NM_014363.6(SACS):c.6105A>G (p.Leu2035=)
|
|
|
NM_014363.6(SACS):c.6108A>T (p.Gly2036=)
|
|
|
NM_014363.6(SACS):c.6136C>T (p.Leu2046=)
|
rs2137612302
|
|
NM_014363.6(SACS):c.6138A>G (p.Leu2046=)
|
|
|
NM_014363.6(SACS):c.6143A>G (p.Glu2048Gly)
|
|
|
NM_014363.6(SACS):c.6147C>T (p.Asn2049=)
|
|
|
NM_014363.6(SACS):c.6150A>G (p.Thr2050=)
|
rs1370520115
|
|
NM_014363.6(SACS):c.6156A>T (p.Ser2052=)
|
rs1868777158
|
|
NM_014363.6(SACS):c.6162A>G (p.Lys2054=)
|
|
|
NM_014363.6(SACS):c.6163C>A (p.Gln2055Lys)
|
|
|
NM_014363.6(SACS):c.6164A>G (p.Gln2055Arg)
|
|
|
NM_014363.6(SACS):c.6165G>A (p.Gln2055=)
|
rs748525192
|
|
NM_014363.6(SACS):c.6174T>C (p.Ser2058=)
|
|
|
NM_014363.6(SACS):c.6176A>T (p.Glu2059Val)
|
|
|
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
|
|
|
NM_014363.6(SACS):c.6180G>C (p.Val2060=)
|
|
|
NM_014363.6(SACS):c.6189A>G (p.Pro2063=)
|
|
|
NM_014363.6(SACS):c.6204T>A (p.Ile2068=)
|
|
|
NM_014363.6(SACS):c.621T>C (p.Phe207=)
|
|
|
NM_014363.6(SACS):c.6226T>G (p.Leu2076Val)
|
|
|
NM_014363.6(SACS):c.6237T>C (p.Phe2079=)
|
rs1185366909
|
|
NM_014363.6(SACS):c.6241C>T (p.Leu2081=)
|
|
|
NM_014363.6(SACS):c.6256G>A (p.Asp2086Asn)
|
|
|
NM_014363.6(SACS):c.6257A>G (p.Asp2086Gly)
|
|
|
NM_014363.6(SACS):c.6257A>T (p.Asp2086Val)
|
|
|
NM_014363.6(SACS):c.6273T>A (p.Val2091=)
|
|
|
NM_014363.6(SACS):c.627T>C (p.Gly209=)
|
|
|
NM_014363.6(SACS):c.6288A>G (p.Pro2096=)
|
|
|
NM_014363.6(SACS):c.6330A>G (p.Pro2110=)
|
|
|
NM_014363.6(SACS):c.6337T>C (p.Leu2113=)
|
|
|
NM_014363.6(SACS):c.6342C>T (p.Ile2114=)
|
|
|
NM_014363.6(SACS):c.6348C>G (p.Pro2116=)
|
|
|
NM_014363.6(SACS):c.6363A>G (p.Ala2121=)
|
|
|
NM_014363.6(SACS):c.636C>T (p.Ile212=)
|
rs749553267
|
|
NM_014363.6(SACS):c.6387G>A (p.Gly2129=)
|
rs141341126
|
|
NM_014363.6(SACS):c.6387G>C (p.Gly2129=)
|
rs141341126
|
|
NM_014363.6(SACS):c.6402T>A (p.Gly2134=)
|
rs2137610043
|
|
NM_014363.6(SACS):c.6411G>A (p.Gln2137=)
|
|
|
NM_014363.6(SACS):c.6413A>T (p.Asp2138Val)
|
|
|
NM_014363.6(SACS):c.6422A>G (p.Asn2141Ser)
|
|
|
NM_014363.6(SACS):c.6445G>A (p.Val2149Ile)
|
|
|
NM_014363.6(SACS):c.6453A>G (p.Leu2151=)
|
rs2137609654
|
|
NM_014363.6(SACS):c.645A>G (p.Leu215=)
|
|
|
NM_014363.6(SACS):c.6460G>A (p.Ala2154Thr)
|
|
|
NM_014363.6(SACS):c.6475T>C (p.Leu2159=)
|
|
|
NM_014363.6(SACS):c.6492A>G (p.Leu2164=)
|
rs752050563
|
|
NM_014363.6(SACS):c.6495A>G (p.Glu2165=)
|
rs2137609252
|
|
NM_014363.6(SACS):c.6497G>A (p.Arg2166His)
|
|
|
NM_014363.6(SACS):c.6498T>C (p.Arg2166=)
|
|
|
NM_014363.6(SACS):c.6500C>T (p.Ala2167Val)
|
|
|
NM_014363.6(SACS):c.6510A>G (p.Val2170=)
|
|
|
NM_014363.6(SACS):c.6510A>T (p.Val2170=)
|
|
|
NM_014363.6(SACS):c.6513T>G (p.Ala2171=)
|
|
|
NM_014363.6(SACS):c.6535G>A (p.Val2179Ile)
|
|
|
NM_014363.6(SACS):c.6546C>T (p.Cys2182=)
|
|
|
NM_014363.6(SACS):c.6558T>C (p.Ser2186=)
|
|
|
NM_014363.6(SACS):c.655C>A (p.Gln219Lys)
|
|
|
NM_014363.6(SACS):c.6565T>C (p.Leu2189=)
|
|
|
NM_014363.6(SACS):c.6579T>C (p.Asp2193=)
|
rs746075355
|
|
NM_014363.6(SACS):c.6585A>G (p.Lys2195=)
|
rs912390732
|
|
NM_014363.6(SACS):c.6585A>T (p.Lys2195Asn)
|
|
|
NM_014363.6(SACS):c.6609A>G (p.Ala2203=)
|
|
|
NM_014363.6(SACS):c.6629A>G (p.Tyr2210Cys)
|
|
|
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)
|
rs556248979
|
|
NM_014363.6(SACS):c.6636A>C (p.Thr2212=)
|
rs899076462
|
|
NM_014363.6(SACS):c.6637A>G (p.Ile2213Val)
|
|
|
NM_014363.6(SACS):c.6641G>A (p.Arg2214His)
|
|
|
NM_014363.6(SACS):c.6641G>T (p.Arg2214Leu)
|
|
|
NM_014363.6(SACS):c.6663A>G (p.Lys2221=)
|
|
|
NM_014363.6(SACS):c.6666A>C (p.Pro2222=)
|
|
|
NM_014363.6(SACS):c.666T>C (p.Phe222=)
|
|
|
NM_014363.6(SACS):c.6682G>T (p.Asp2228Tyr)
|
|
|
NM_014363.6(SACS):c.6683A>G (p.Asp2228Gly)
|
|
|
NM_014363.6(SACS):c.6696C>T (p.Asn2232=)
|
rs1868695544
|
|
NM_014363.6(SACS):c.6702T>C (p.Phe2234=)
|
rs774487714
|
|
NM_014363.6(SACS):c.6705G>A (p.Lys2235=)
|
|
|
NM_014363.6(SACS):c.6714C>T (p.Thr2238=)
|
rs2137607327
|
|
NM_014363.6(SACS):c.6723A>G (p.Ala2241=)
|
|
|
NM_014363.6(SACS):c.6732C>T (p.Asp2244=)
|
rs1267521367
|
|
NM_014363.6(SACS):c.6741A>C (p.Thr2247=)
|
rs2137607122
|
|
NM_014363.6(SACS):c.6747A>G (p.Glu2249=)
|
|
|
NM_014363.6(SACS):c.6758T>C (p.Ile2253Thr)
|
|
|
NM_014363.6(SACS):c.6759A>C (p.Ile2253=)
|
rs1312837697
|
|
NM_014363.6(SACS):c.6769T>C (p.Leu2257=)
|
rs2137606843
|
|
NM_014363.6(SACS):c.6789A>G (p.Glu2263=)
|
|
|
NM_014363.6(SACS):c.6792T>C (p.Asn2264=)
|
|
|
NM_014363.6(SACS):c.6796C>A (p.His2266Asn)
|
|
|
NM_014363.6(SACS):c.6801T>C (p.Ser2267=)
|
|
|
NM_014363.6(SACS):c.6813T>G (p.Cys2271Trp)
|
|
|
NM_014363.6(SACS):c.6816T>G (p.Gly2272=)
|
|
|
NM_014363.6(SACS):c.6825A>C (p.Ser2275=)
|
rs368891664
|
|
NM_014363.6(SACS):c.6840G>T (p.Glu2280Asp)
|
|
|
NM_014363.6(SACS):c.6849A>T (p.Gly2283=)
|
rs755452979
|
|
NM_014363.6(SACS):c.6855C>G (p.Leu2285=)
|
rs2137605914
|
|
NM_014363.6(SACS):c.6858G>A (p.Lys2286=)
|
rs1868677264
|
|
NM_014363.6(SACS):c.6860A>G (p.Lys2287Arg)
|
|
|
NM_014363.6(SACS):c.6866C>T (p.Thr2289Ile)
|
|
|
NM_014363.6(SACS):c.687A>G (p.Gln229=)
|
|
|
NM_014363.6(SACS):c.6891G>A (p.Leu2297=)
|
rs775553857
|
|
NM_014363.6(SACS):c.6897A>G (p.Glu2299=)
|
rs2137605427
|
|
NM_014363.6(SACS):c.6900A>G (p.Val2300=)
|
|
|
NM_014363.6(SACS):c.6907T>A (p.Ser2303Thr)
|
|
|
NM_014363.6(SACS):c.690T>C (p.Cys230=)
|
|
|
NM_014363.6(SACS):c.6910G>A (p.Val2304Ile)
|
|
|
NM_014363.6(SACS):c.6916G>C (p.Asp2306His)
|
|
|
NM_014363.6(SACS):c.6927A>G (p.Thr2309=)
|
|
|
NM_014363.6(SACS):c.6928C>T (p.Leu2310=)
|
rs1868666524
|
|
NM_014363.6(SACS):c.6930G>A (p.Leu2310=)
|
rs780625472
|
|
NM_014363.6(SACS):c.6930G>C (p.Leu2310=)
|
|
|
NM_014363.6(SACS):c.6933C>T (p.Tyr2311=)
|
|
|
NM_014363.6(SACS):c.6942T>C (p.Asn2314=)
|
|
|
NM_014363.6(SACS):c.6951T>C (p.Asn2317=)
|
|
|
NM_014363.6(SACS):c.6953C>T (p.Ala2318Val)
|
|
|
NM_014363.6(SACS):c.6954T>C (p.Ala2318=)
|
rs1481828108
|
|
NM_014363.6(SACS):c.6954T>G (p.Ala2318=)
|
|
|
NM_014363.6(SACS):c.696T>C (p.Asn232=)
|
rs2031640
|
|
NM_014363.6(SACS):c.6970C>A (p.His2324Asn)
|
|
|
NM_014363.6(SACS):c.6978C>G (p.Ala2326=)
|
rs2137604768
|
|
NM_014363.6(SACS):c.6994A>G (p.Ile2332Val)
|
|
|
NM_014363.6(SACS):c.6996C>T (p.Ile2332=)
|
rs2137604621
|
|
NM_014363.6(SACS):c.6999T>C (p.Thr2333=)
|
rs1414703183
|
|
NM_014363.6(SACS):c.7002G>A (p.Lys2334=)
|
|
|
NM_014363.6(SACS):c.7004T>C (p.Met2335Thr)
|
|
|
NM_014363.6(SACS):c.7016A>G (p.Asp2339Gly)
|
|
|
NM_014363.6(SACS):c.7020G>A (p.Lys2340=)
|
|
|
NM_014363.6(SACS):c.7023A>G (p.Leu2341=)
|
rs2137604397
|
|
NM_014363.6(SACS):c.7026A>G (p.Lys2342=)
|
|
|
NM_014363.6(SACS):c.7029C>A (p.Pro2343=)
|
|
|
NM_014363.6(SACS):c.7032T>C (p.Phe2344=)
|
rs746413291
|
|
NM_014363.6(SACS):c.7038C>T (p.Phe2346=)
|
|
|
NM_014363.6(SACS):c.7053T>C (p.Asn2351=)
|
|
|
NM_014363.6(SACS):c.7056A>C (p.Ala2352=)
|
rs1199675216
|
|
NM_014363.6(SACS):c.7056A>T (p.Ala2352=)
|
rs1199675216
|
|
NM_014363.6(SACS):c.7062T>G (p.Val2354=)
|
rs1868650796
|
|
NM_014363.6(SACS):c.7068A>G (p.Ser2356=)
|
rs1868650056
|
|
NM_014363.6(SACS):c.7070A>G (p.Glu2357Gly)
|
|
|
NM_014363.6(SACS):c.7107A>C (p.Pro2369=)
|
|
|
NM_014363.6(SACS):c.7110C>T (p.Tyr2370=)
|
rs1555251553
|
|
NM_014363.6(SACS):c.7113T>G (p.Leu2371=)
|
|
|
NM_014363.6(SACS):c.7125T>C (p.Pro2375=)
|
rs1330112578
|
|
NM_014363.6(SACS):c.7128T>C (p.Asn2376=)
|
|
|
NM_014363.6(SACS):c.7131G>A (p.Lys2377=)
|
rs1868643917
|
|
NM_014363.6(SACS):c.7134T>C (p.Tyr2378=)
|
rs762475019
|
|
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
|
|
|
NM_014363.6(SACS):c.7167G>T (p.Val2389=)
|
|
|
NM_014363.6(SACS):c.7175G>A (p.Arg2392Lys)
|
|
|
NM_014363.6(SACS):c.7178A>G (p.Gln2393Arg)
|
|
|
NM_014363.6(SACS):c.7185C>G (p.Cys2395Trp)
|
|
|
NM_014363.6(SACS):c.7185C>T (p.Cys2395=)
|
|
|
NM_014363.6(SACS):c.7186A>G (p.Thr2396Ala)
|
|
|
NM_014363.6(SACS):c.718A>C (p.Ile240Leu)
|
|
|
NM_014363.6(SACS):c.7204C>G (p.Leu2402Val)
|
|
|
NM_014363.6(SACS):c.7209T>G (p.Val2403=)
|
|
|
NM_014363.6(SACS):c.720T>C (p.Ile240=)
|
|
|
NM_014363.6(SACS):c.7217C>A (p.Ser2406Tyr)
|
|
|
NM_014363.6(SACS):c.7219A>G (p.Ile2407Val)
|
|
|
NM_014363.6(SACS):c.7221T>G (p.Ile2407Met)
|
|
|
NM_014363.6(SACS):c.7233A>G (p.Arg2411=)
|
|
|
NM_014363.6(SACS):c.7242G>A (p.Lys2414=)
|
rs185902810
|
|
NM_014363.6(SACS):c.726A>G (p.Glu242=)
|
rs2137728688
|
|
NM_014363.6(SACS):c.7272C>T (p.Cys2424=)
|
rs1868626730
|
|
NM_014363.6(SACS):c.7274G>A (p.Arg2425Gln)
|
|
|
NM_014363.6(SACS):c.7277G>A (p.Arg2426Gln)
|
|
|
NM_014363.6(SACS):c.727C>G (p.Leu243Val)
|
|
|
NM_014363.6(SACS):c.7284C>T (p.Ile2428=)
|
|
|
NM_014363.6(SACS):c.7296A>T (p.Ile2432=)
|
|
|
NM_014363.6(SACS):c.729T>G (p.Leu243=)
|
|
|
NM_014363.6(SACS):c.72G>A (p.Ala24=)
|
rs1871677310
|
|
NM_014363.6(SACS):c.7302T>C (p.Ser2434=)
|
|
|
NM_014363.6(SACS):c.7304T>C (p.Leu2435Pro)
|
|
|
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val)
|
rs567650774
|
|
NM_014363.6(SACS):c.7326A>G (p.Glu2442=)
|
rs2137601476
|
|
NM_014363.6(SACS):c.7338A>G (p.Lys2446=)
|
rs1868618237
|
|
NM_014363.6(SACS):c.7346G>A (p.Gly2449Asp)
|
|
|
NM_014363.6(SACS):c.7350G>A (p.Lys2450=)
|
|
|
NM_014363.6(SACS):c.7351A>G (p.Ile2451Val)
|
|
|
NM_014363.6(SACS):c.7351A>T (p.Ile2451Leu)
|
|
|
NM_014363.6(SACS):c.7353A>G (p.Ile2451Met)
|
|
|
NM_014363.6(SACS):c.7362A>G (p.Pro2454=)
|
rs2137601099
|
|
NM_014363.6(SACS):c.7368T>G (p.Thr2456=)
|
rs2137601024
|
|
NM_014363.6(SACS):c.7376T>G (p.Met2459Arg)
|
|
|
NM_014363.6(SACS):c.7380T>G (p.Leu2460=)
|
|
|
NM_014363.6(SACS):c.7383C>A (p.Leu2461=)
|
|
|
NM_014363.6(SACS):c.7389T>C (p.Ala2463=)
|
|
|
NM_014363.6(SACS):c.7401C>T (p.Cys2467=)
|
|
|
NM_014363.6(SACS):c.7404C>T (p.Tyr2468=)
|
rs2137600713
|
|
NM_014363.6(SACS):c.7426G>A (p.Val2476Ile)
|
|
|
NM_014363.6(SACS):c.744A>C (p.Ala248=)
|
rs1448438600
|
|
NM_014363.6(SACS):c.744A>G (p.Ala248=)
|
rs1448438600
|
|
NM_014363.6(SACS):c.7455T>C (p.His2485=)
|
|
|
NM_014363.6(SACS):c.7458T>A (p.Ala2486=)
|
|
|
NM_014363.6(SACS):c.7464A>C (p.Ile2488=)
|
rs1593127405
|
|
NM_014363.6(SACS):c.7476A>G (p.Val2492=)
|
rs1593127376
|
|
NM_014363.6(SACS):c.747A>G (p.Pro249=)
|
rs1377168303
|
|
NM_014363.6(SACS):c.7482A>T (p.Val2494=)
|
rs2137600030
|
|
NM_014363.6(SACS):c.7491A>C (p.Gly2497=)
|
|
|
NM_014363.6(SACS):c.7506A>G (p.Arg2502=)
|
|
|
NM_014363.6(SACS):c.7516T>C (p.Leu2506=)
|
rs2137599675
|
|
NM_014363.6(SACS):c.751G>A (p.Val251Ile)
|
rs776176699
|
|
NM_014363.6(SACS):c.7539C>G (p.Val2513=)
|
rs572529567
|
|
NM_014363.6(SACS):c.7548A>G (p.Thr2516=)
|
rs2137599204
|
|
NM_014363.6(SACS):c.7582T>C (p.Leu2528=)
|
|
|
NM_014363.6(SACS):c.7587C>G (p.Thr2529=)
|
|
|
NM_014363.6(SACS):c.7587C>T (p.Thr2529=)
|
|
|
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn)
|
rs750491874
|
|
NM_014363.6(SACS):c.7602C>T (p.Ser2534=)
|
|
|
NM_014363.6(SACS):c.7611T>C (p.Asn2537=)
|
|
|
NM_014363.6(SACS):c.7614A>G (p.Ala2538=)
|
rs142697365
|
|
NM_014363.6(SACS):c.7617T>C (p.Tyr2539=)
|
rs2137598731
|
|
NM_014363.6(SACS):c.7620T>A (p.Pro2540=)
|
|
|
NM_014363.6(SACS):c.7636T>C (p.Leu2546=)
|
|
|
NM_014363.6(SACS):c.7638G>A (p.Leu2546=)
|
|
|
NM_014363.6(SACS):c.7662T>C (p.Asp2554=)
|
|
|
NM_014363.6(SACS):c.766A>G (p.Ser256Gly)
|
|
|
NM_014363.6(SACS):c.7679A>G (p.Glu2560Gly)
|
|
|
NM_014363.6(SACS):c.7686T>C (p.Cys2562=)
|
|
|
NM_014363.6(SACS):c.7686T>G (p.Cys2562Trp)
|
|
|
NM_014363.6(SACS):c.7687T>G (p.Phe2563Val)
|
|
|
NM_014363.6(SACS):c.7698T>C (p.Asp2566=)
|
rs2137598118
|
|
NM_014363.6(SACS):c.76C>T (p.Leu26=)
|
rs2137841018
|
|
NM_014363.6(SACS):c.7704A>G (p.Arg2568=)
|
rs2137598061
|
|
NM_014363.6(SACS):c.7710T>C (p.His2570=)
|
|
|
NM_014363.6(SACS):c.7713A>T (p.Pro2571=)
|
rs557113294
|
|
NM_014363.6(SACS):c.771C>T (p.Thr257=)
|
rs2137728294
|
|
NM_014363.6(SACS):c.7761A>G (p.Ala2587=)
|
rs2137597595
|
|
NM_014363.6(SACS):c.777A>G (p.Glu259=)
|
|
|
NM_014363.6(SACS):c.7785A>G (p.Pro2595=)
|
rs2137597409
|
|
NM_014363.6(SACS):c.7794A>G (p.Glu2598=)
|
|
|
NM_014363.6(SACS):c.780A>G (p.Thr260=)
|
|
|
NM_014363.6(SACS):c.7812T>C (p.Ile2604=)
|
rs1593127031
|
|
NM_014363.6(SACS):c.7830C>G (p.Gly2610=)
|
|
|
NM_014363.6(SACS):c.7839G>A (p.Glu2613=)
|
rs2137596950
|
|
NM_014363.6(SACS):c.784A>G (p.Ile262Val)
|
|
|
NM_014363.6(SACS):c.7893T>C (p.His2631=)
|
|
|
NM_014363.6(SACS):c.7902C>T (p.Asp2634=)
|
rs2137596562
|
|
NM_014363.6(SACS):c.7911T>G (p.Ser2637=)
|
rs369521544
|
|
NM_014363.6(SACS):c.7920T>C (p.Ser2640=)
|
rs2137596372
|
|
NM_014363.6(SACS):c.7925A>G (p.Asn2642Ser)
|
|
|
NM_014363.6(SACS):c.7932C>T (p.Ile2644=)
|
rs2137596232
|
|
NM_014363.6(SACS):c.7933C>T (p.Leu2645=)
|
|
|
NM_014363.6(SACS):c.7950T>C (p.Pro2650=)
|
rs2137596152
|
|
NM_014363.6(SACS):c.7964C>T (p.Ala2655Val)
|
|
|
NM_014363.6(SACS):c.7965A>G (p.Ala2655=)
|
|
|
NM_014363.6(SACS):c.7977A>C (p.Thr2659=)
|
rs2137595797
|
|
NM_014363.6(SACS):c.7989C>G (p.Pro2663=)
|
rs766086455
|
|
NM_014363.6(SACS):c.7992A>G (p.Gly2664=)
|
rs755531339
|
|
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
|
|
|
NM_014363.6(SACS):c.8004A>G (p.Arg2668=)
|
rs2137595571
|
|
NM_014363.6(SACS):c.8013T>C (p.Asp2671=)
|
rs2137595428
|
|
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu)
|
rs34928783
|
|
NM_014363.6(SACS):c.8028A>G (p.Thr2676=)
|
|
|
NM_014363.6(SACS):c.8034C>T (p.Phe2678=)
|
|
|
NM_014363.6(SACS):c.8044C>T (p.Leu2682=)
|
rs1340571633
|
|
NM_014363.6(SACS):c.8047G>T (p.Asp2683Tyr)
|
|
|
NM_014363.6(SACS):c.8056C>T (p.Leu2686=)
|
rs748595405
|
|
NM_014363.6(SACS):c.8062A>G (p.Thr2688Ala)
|
|
|
NM_014363.6(SACS):c.8064C>A (p.Thr2688=)
|
rs1868538797
|
|
NM_014363.6(SACS):c.8067T>C (p.His2689=)
|
|
|
NM_014363.6(SACS):c.8074C>A (p.Leu2692Met)
|
|
|
NM_014363.6(SACS):c.8085C>T (p.Cys2695=)
|
|
|
NM_014363.6(SACS):c.8088A>T (p.Thr2696=)
|
rs1868536944
|
|
NM_014363.6(SACS):c.810T>C (p.Phe270=)
|
rs116907814
|
|
NM_014363.6(SACS):c.813C>T (p.Phe271=)
|
rs2137727948
|
|
NM_014363.6(SACS):c.8142G>T (p.Ser2714=)
|
rs530250252
|
|
NM_014363.6(SACS):c.8145T>A (p.Ser2715=)
|
|
|
NM_014363.6(SACS):c.8157A>G (p.Ser2719=)
|
|
|
NM_014363.6(SACS):c.8169C>A (p.Val2723=)
|
|
|
NM_014363.6(SACS):c.8169C>G (p.Val2723=)
|
|
|
NM_014363.6(SACS):c.8169C>T (p.Val2723=)
|
rs771919940
|
|
NM_014363.6(SACS):c.8179T>C (p.Leu2727=)
|
rs1868521401
|
|
NM_014363.6(SACS):c.8187A>G (p.Lys2729=)
|
rs1566063362
|
|
NM_014363.6(SACS):c.8190G>A (p.Leu2730=)
|
rs1593126657
|
|
NM_014363.6(SACS):c.8193C>T (p.Arg2731=)
|
|
|
NM_014363.6(SACS):c.8199T>C (p.Asp2733=)
|
|
|
NM_014363.6(SACS):c.81G>A (p.Ala27=)
|
|
|
NM_014363.6(SACS):c.8211T>C (p.Leu2737=)
|
|
|
NM_014363.6(SACS):c.8214A>G (p.Leu2738=)
|
rs780464110
|
|
NM_014363.6(SACS):c.8226T>C (p.Asn2742=)
|
rs2137593985
|
|
NM_014363.6(SACS):c.8241T>C (p.Ile2747=)
|
rs2137593811
|
|
NM_014363.6(SACS):c.8254A>C (p.Ile2752Leu)
|
rs375814343
|
|
NM_014363.6(SACS):c.8258A>G (p.Asp2753Gly)
|
|
|
NM_014363.6(SACS):c.8258A>T (p.Asp2753Val)
|
|
|
NM_014363.6(SACS):c.825T>A (p.Leu275=)
|
rs2137727818
|
|
NM_014363.6(SACS):c.8267C>T (p.Thr2756Ile)
|
|
|
NM_014363.6(SACS):c.8272G>A (p.Ala2758Thr)
|
|
|
NM_014363.6(SACS):c.8275C>T (p.Leu2759=)
|
|
|
NM_014363.6(SACS):c.8277A>G (p.Leu2759=)
|
rs964594403
|
|
NM_014363.6(SACS):c.8277A>T (p.Leu2759=)
|
|
|
NM_014363.6(SACS):c.8283G>A (p.Val2761=)
|
|
|
NM_014363.6(SACS):c.8286G>A (p.Leu2762=)
|
rs2137593411
|
|
NM_014363.6(SACS):c.8295A>G (p.Val2765=)
|
rs2137593329
|
|
NM_014363.6(SACS):c.8319C>T (p.Asp2773=)
|
rs1199179557
|
|
NM_014363.6(SACS):c.8323T>C (p.Leu2775=)
|
rs1868501939
|
|
NM_014363.6(SACS):c.8349T>C (p.Ser2783=)
|
|
|
NM_014363.6(SACS):c.8352A>C (p.Val2784=)
|
rs1453849346
|
|
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
|
|
|
NM_014363.6(SACS):c.8364T>C (p.Val2788=)
|
|
|
NM_014363.6(SACS):c.8367T>C (p.Thr2789=)
|
|
|
NM_014363.6(SACS):c.8409C>G (p.Thr2803=)
|
rs746612218
|
|
NM_014363.6(SACS):c.8409C>T (p.Thr2803=)
|
rs746612218
|
|
NM_014363.6(SACS):c.840A>C (p.Ser280=)
|
|
|
NM_014363.6(SACS):c.8427G>A (p.Glu2809=)
|
rs2137592068
|
|
NM_014363.6(SACS):c.8437G>A (p.Gly2813Arg)
|
|
|
NM_014363.6(SACS):c.843A>G (p.Gln281=)
|
|
|
NM_014363.6(SACS):c.8448T>C (p.Thr2816=)
|
|
|
NM_014363.6(SACS):c.8451G>A (p.Thr2817=)
|
rs749291377
|
|
NM_014363.6(SACS):c.8451G>C (p.Thr2817=)
|
rs749291377
|
|
NM_014363.6(SACS):c.8455C>T (p.Leu2819=)
|
|
|
NM_014363.6(SACS):c.8490G>C (p.Glu2830Asp)
|
|
|
NM_014363.6(SACS):c.8496A>T (p.Val2832=)
|
rs2137591469
|
|
NM_014363.6(SACS):c.8499T>C (p.Ser2833=)
|
|
|
NM_014363.6(SACS):c.84C>G (p.Ser28=)
|
|
|
NM_014363.6(SACS):c.84C>T (p.Ser28=)
|
|
|
NM_014363.6(SACS):c.8505T>C (p.Ser2835=)
|
rs1868476676
|
|
NM_014363.6(SACS):c.8509A>G (p.Ile2837Val)
|
|
|
NM_014363.6(SACS):c.8511A>G (p.Ile2837Met)
|
|
|
NM_014363.6(SACS):c.8514A>C (p.Ser2838=)
|
rs2137591232
|
|
NM_014363.6(SACS):c.8520C>T (p.His2840=)
|
|
|
NM_014363.6(SACS):c.8529A>G (p.Gln2843=)
|
rs2137591155
|
|
NM_014363.6(SACS):c.8532T>C (p.Asp2844=)
|
|
|
NM_014363.6(SACS):c.8538T>A (p.Thr2846=)
|
rs1593126169
|
|
NM_014363.6(SACS):c.8541T>C (p.Leu2847=)
|
rs546729483
|
|
NM_014363.6(SACS):c.8565C>T (p.Ala2855=)
|
rs774758836
|
|
NM_014363.6(SACS):c.8571T>A (p.Ile2857=)
|
|
|
NM_014363.6(SACS):c.8571T>C (p.Ile2857=)
|
|
|
NM_014363.6(SACS):c.8574T>C (p.Thr2858=)
|
|
|
NM_014363.6(SACS):c.8583T>C (p.Tyr2861=)
|
|
|
NM_014363.6(SACS):c.858C>T (p.Leu286=)
|
rs1870340453
|
|
NM_014363.6(SACS):c.8604C>T (p.Phe2868=)
|
rs1031471964
|
|
NM_014363.6(SACS):c.8610T>C (p.Phe2870=)
|
|
|
NM_014363.6(SACS):c.8619T>C (p.Leu2873=)
|
|
|
NM_014363.6(SACS):c.8623T>C (p.Leu2875=)
|
|
|
NM_014363.6(SACS):c.8631T>G (p.Thr2877=)
|
rs2137590401
|
|
NM_014363.6(SACS):c.863A>G (p.Asn288Ser)
|
|
|
NM_014363.6(SACS):c.8640A>G (p.Pro2880=)
|
|
|
NM_014363.6(SACS):c.8655C>T (p.Gly2885=)
|
|
|
NM_014363.6(SACS):c.866A>C (p.Lys289Thr)
|
|
|
NM_014363.6(SACS):c.8692C>T (p.Arg2898Cys)
|
|
|
NM_014363.6(SACS):c.8694T>A (p.Arg2898=)
|
|
|
NM_014363.6(SACS):c.8700T>C (p.Asp2900=)
|
rs1207531130
|
|
NM_014363.6(SACS):c.8712T>C (p.Gly2904=)
|
|
|
NM_014363.6(SACS):c.8740A>G (p.Met2914Val)
|
|
|
NM_014363.6(SACS):c.8773T>C (p.Leu2925=)
|
rs2137589672
|
|
NM_014363.6(SACS):c.8778A>G (p.Leu2926=)
|
|
|
NM_014363.6(SACS):c.8794C>T (p.Arg2932Trp)
|
rs370913893
|
|
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
|
|
|
NM_014363.6(SACS):c.8796G>C (p.Arg2932=)
|
|
|
NM_014363.6(SACS):c.8797T>C (p.Tyr2933His)
|
|
|
NM_014363.6(SACS):c.879T>A (p.Leu293=)
|
|
|
NM_014363.6(SACS):c.879T>C (p.Leu293=)
|
|
|
NM_014363.6(SACS):c.8804C>T (p.Pro2935Leu)
|
|
|
NM_014363.6(SACS):c.8809T>A (p.Ser2937Thr)
|
|
|
NM_014363.6(SACS):c.8816C>T (p.Pro2939Leu)
|
|
|
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
|
|
|
NM_014363.6(SACS):c.8822T>C (p.Leu2941Ser)
|
|
|
NM_014363.6(SACS):c.8823A>G (p.Leu2941=)
|
|
|
NM_014363.6(SACS):c.8835G>A (p.Gln2945=)
|
rs1868447934
|
|
NM_014363.6(SACS):c.8838C>T (p.Asn2946=)
|
rs2137588990
|
|
NM_014363.6(SACS):c.8841C>G (p.Thr2947=)
|
|
|
NM_014363.6(SACS):c.8844T>G (p.Pro2948=)
|
|
|
NM_014363.6(SACS):c.8849A>C (p.His2950Pro)
|
|
|
NM_014363.6(SACS):c.8853T>G (p.Val2951=)
|
rs9552929
|
|
NM_014363.6(SACS):c.8864C>A (p.Thr2955Asn)
|
|
|
NM_014363.6(SACS):c.888T>C (p.Phe296=)
|
|
|
NM_014363.6(SACS):c.8904T>C (p.Leu2968=)
|
rs2137588252
|
|
NM_014363.6(SACS):c.8907T>C (p.Asp2969=)
|
|
|
NM_014363.6(SACS):c.891G>A (p.Glu297=)
|
rs2137727218
|
|
NM_014363.6(SACS):c.8925T>C (p.Tyr2975=)
|
rs971494277
|
|
NM_014363.6(SACS):c.8928T>C (p.Cys2976=)
|
rs756222456
|
|
NM_014363.6(SACS):c.8931A>T (p.Leu2977=)
|
rs376228714
|
|
NM_014363.6(SACS):c.8934G>A (p.Val2978=)
|
|
|
NM_014363.6(SACS):c.897T>C (p.Phe299=)
|
rs2137727190
|
|
NM_014363.6(SACS):c.8992G>C (p.Ala2998Pro)
|
|
|
NM_014363.6(SACS):c.8994T>A (p.Ala2998=)
|
rs2137587608
|
|
NM_014363.6(SACS):c.9009C>T (p.Gly3003=)
|
|
|
NM_014363.6(SACS):c.9015C>T (p.Asp3005=)
|
rs769712713
|
|
NM_014363.6(SACS):c.9021C>T (p.His3007=)
|
rs1868427865
|
|
NM_014363.6(SACS):c.9024T>G (p.Ser3008=)
|
rs2137587321
|
|
NM_014363.6(SACS):c.9039T>C (p.Thr3013=)
|
|
|
NM_014363.6(SACS):c.903A>G (p.Ala301=)
|
|
|
NM_014363.6(SACS):c.9052T>C (p.Ser3018Pro)
|
|
|
NM_014363.6(SACS):c.9057T>C (p.Thr3019=)
|
rs1180500330
|
|
NM_014363.6(SACS):c.9063T>G (p.Asn3021Lys)
|
|
|
NM_014363.6(SACS):c.9073C>T (p.Pro3025Ser)
|
|
|
NM_014363.6(SACS):c.9075A>G (p.Pro3025=)
|
|
|
NM_014363.6(SACS):c.9087T>C (p.Asn3029=)
|
|
|
NM_014363.6(SACS):c.9093A>G (p.Leu3031=)
|
rs1350252405
|
|
NM_014363.6(SACS):c.9096G>T (p.Gln3032His)
|
|
|
NM_014363.6(SACS):c.9107A>G (p.Gln3036Arg)
|
|
|
NM_014363.6(SACS):c.9111C>T (p.His3037=)
|
rs2137586671
|
|
NM_014363.6(SACS):c.9114T>A (p.Leu3038=)
|
rs1198368369
|
|
NM_014363.6(SACS):c.9123A>G (p.Ala3041=)
|
rs2137586583
|
|
NM_014363.6(SACS):c.9129T>C (p.Tyr3043=)
|
|
|
NM_014363.6(SACS):c.9132T>C (p.Asn3044=)
|
rs2137586506
|
|
NM_014363.6(SACS):c.9133A>G (p.Ile3045Val)
|
|
|
NM_014363.6(SACS):c.9142C>T (p.Arg3048Cys)
|
|
|
NM_014363.6(SACS):c.9167A>G (p.Tyr3056Cys)
|
|
|
NM_014363.6(SACS):c.9170G>A (p.Arg3057Lys)
|
|
|
NM_014363.6(SACS):c.9174G>A (p.Leu3058=)
|
|
|
NM_014363.6(SACS):c.9183C>T (p.Leu3061=)
|
rs2137586200
|
|
NM_014363.6(SACS):c.9195T>C (p.Ile3065=)
|
rs2137586072
|
|
NM_014363.6(SACS):c.9203A>G (p.Asn3068Ser)
|
|
|
NM_014363.6(SACS):c.9205T>C (p.Leu3069=)
|
|
|
NM_014363.6(SACS):c.9212A>G (p.Tyr3071Cys)
|
|
|
NM_014363.6(SACS):c.921G>A (p.Leu307=)
|
rs1870332993
|
|
NM_014363.6(SACS):c.9231T>A (p.Ala3077=)
|
|
|
NM_014363.6(SACS):c.9231T>C (p.Ala3077=)
|
rs779640503
|
|
NM_014363.6(SACS):c.9237T>C (p.Leu3079=)
|
|
|
NM_014363.6(SACS):c.9241C>T (p.His3081Tyr)
|
|
|
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
|
|
|
NM_014363.6(SACS):c.9249T>C (p.Leu3083=)
|
|
|
NM_014363.6(SACS):c.9257C>T (p.Ala3086Val)
|
|
|
NM_014363.6(SACS):c.9258A>G (p.Ala3086=)
|
rs2137585518
|
|
NM_014363.6(SACS):c.9267T>C (p.Pro3089=)
|
|
|
NM_014363.6(SACS):c.9273T>C (p.Ser3091=)
|
rs2137585391
|
|
NM_014363.6(SACS):c.9276T>C (p.Tyr3092=)
|
rs2137585334
|
|
NM_014363.6(SACS):c.9282C>T (p.Thr3094=)
|
|
|
NM_014363.6(SACS):c.9293T>G (p.Ile3098Ser)
|
|
|
NM_014363.6(SACS):c.9310A>G (p.Thr3104Ala)
|
|
|
NM_014363.6(SACS):c.9330T>C (p.Thr3110=)
|
|
|
NM_014363.6(SACS):c.9336C>T (p.Cys3112=)
|
rs2137584765
|
|
NM_014363.6(SACS):c.9348G>A (p.Lys3116=)
|
|
|
NM_014363.6(SACS):c.9358C>T (p.Arg3120Cys)
|
|
|
NM_014363.6(SACS):c.9359G>A (p.Arg3120His)
|
|
|
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)
|
rs569955570
|
|
NM_014363.6(SACS):c.9361C>T (p.Leu3121=)
|
rs2137584537
|
|
NM_014363.6(SACS):c.9372T>A (p.Thr3124=)
|
rs2137584446
|
|
NM_014363.6(SACS):c.9381A>G (p.Lys3127=)
|
rs2137584369
|
|
NM_014363.6(SACS):c.9386T>C (p.Phe3129Ser)
|
|
|
NM_014363.6(SACS):c.9389A>G (p.His3130Arg)
|
|
|
NM_014363.6(SACS):c.9390T>C (p.His3130=)
|
|
|
NM_014363.6(SACS):c.939G>A (p.Val313=)
|
rs1196445565
|
|
NM_014363.6(SACS):c.939G>T (p.Val313=)
|
rs1196445565
|
|
NM_014363.6(SACS):c.9403T>C (p.Leu3135=)
|
rs867103476
|
|
NM_014363.6(SACS):c.9405A>G (p.Leu3135=)
|
rs866488144
|
|
NM_014363.6(SACS):c.9408T>C (p.Val3136=)
|
|
|
NM_014363.6(SACS):c.9410A>G (p.Asp3137Gly)
|
|
|
NM_014363.6(SACS):c.9411T>C (p.Asp3137=)
|
|
|
NM_014363.6(SACS):c.9417T>C (p.Cys3139=)
|
rs2137584002
|
|
NM_014363.6(SACS):c.941A>G (p.Gln314Arg)
|
|
|
NM_014363.6(SACS):c.9420T>C (p.Phe3140=)
|
|
|
NM_014363.6(SACS):c.9443T>C (p.Ile3148Thr)
|
|
|
NM_014363.6(SACS):c.9462C>G (p.Pro3154=)
|
|
|
NM_014363.6(SACS):c.9465T>C (p.Leu3155=)
|
rs1593125038
|
|
NM_014363.6(SACS):c.9468C>T (p.Leu3156=)
|
|
|
NM_014363.6(SACS):c.9475C>T (p.Leu3159=)
|
|
|
NM_014363.6(SACS):c.9476T>C (p.Leu3159Pro)
|
|
|
NM_014363.6(SACS):c.9484G>A (p.Val3162Ile)
|
|
|
NM_014363.6(SACS):c.948T>C (p.Val316=)
|
|
|
NM_014363.6(SACS):c.9504A>T (p.Ala3168=)
|
|
|
NM_014363.6(SACS):c.9509G>A (p.Arg3170Gln)
|
|
|
NM_014363.6(SACS):c.9510A>C (p.Arg3170=)
|
rs2137583405
|
|
NM_014363.6(SACS):c.9519T>C (p.Phe3173=)
|
rs780746393
|
|
NM_014363.6(SACS):c.951C>T (p.Ser317=)
|
rs2137726663
|
|
NM_014363.6(SACS):c.9528A>G (p.Thr3176=)
|
|
|
NM_014363.6(SACS):c.9534T>C (p.His3178=)
|
rs1029799719
|
|
NM_014363.6(SACS):c.9543T>A (p.Ile3181=)
|
|
|
NM_014363.6(SACS):c.9549C>T (p.Ser3183=)
|
|
|
NM_014363.6(SACS):c.9558C>T (p.Asp3186=)
|
|
|
NM_014363.6(SACS):c.9569A>G (p.Asn3190Ser)
|
|
|
NM_014363.6(SACS):c.9576A>G (p.Leu3192=)
|
|
|
NM_014363.6(SACS):c.9579T>C (p.Tyr3193=)
|
|
|
NM_014363.6(SACS):c.957T>C (p.Tyr319=)
|
|
|
NM_014363.6(SACS):c.9591T>C (p.Ser3197=)
|
rs764477877
|
|
NM_014363.6(SACS):c.9594T>C (p.Asn3198=)
|
|
|
NM_014363.6(SACS):c.9601T>C (p.Leu3201=)
|
|
|
NM_014363.6(SACS):c.960C>T (p.Val320=)
|
|
|
NM_014363.6(SACS):c.9618A>C (p.Ala3206=)
|
|
|
NM_014363.6(SACS):c.9619A>G (p.Lys3207Glu)
|
|
|
NM_014363.6(SACS):c.9630C>T (p.Asp3210=)
|
|
|
NM_014363.6(SACS):c.9637A>G (p.Ser3213Gly)
|
|
|
NM_014363.6(SACS):c.9642T>C (p.Phe3214=)
|
rs2137582243
|
|
NM_014363.6(SACS):c.9645T>G (p.Ala3215=)
|
|
|
NM_014363.6(SACS):c.9651G>A (p.Leu3217=)
|
rs778613923
|
|
NM_014363.6(SACS):c.9657C>T (p.Ser3219=)
|
|
|
NM_014363.6(SACS):c.9663G>A (p.Val3221=)
|
|
|
NM_014363.6(SACS):c.9668C>T (p.Pro3223Leu)
|
|
|
NM_014363.6(SACS):c.9675A>G (p.Glu3225=)
|
|
|
NM_014363.6(SACS):c.9678T>C (p.Tyr3226=)
|
rs2137581806
|
|
NM_014363.6(SACS):c.9683C>T (p.Thr3228Ile)
|
|
|
NM_014363.6(SACS):c.9684C>G (p.Thr3228=)
|
|
|
NM_014363.6(SACS):c.9692G>A (p.Cys3231Tyr)
|
|
|
NM_014363.6(SACS):c.9696A>G (p.Thr3232=)
|
rs1301795803
|
|
NM_014363.6(SACS):c.9699G>A (p.Lys3233=)
|
rs1593124697
|
|
NM_014363.6(SACS):c.96C>T (p.Arg32=)
|
|
|
NM_014363.6(SACS):c.9708C>A (p.Asp3236Glu)
|
|
|
NM_014363.6(SACS):c.9710A>G (p.Asn3237Ser)
|
|
|
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)
|
rs546652936
|
|
NM_014363.6(SACS):c.972C>T (p.Asp324=)
|
rs546652936
|
|
NM_014363.6(SACS):c.974G>A (p.Gly325Glu)
|
|
|
NM_014363.6(SACS):c.9759A>G (p.Glu3253=)
|
rs1883673090
|
|
NM_014363.6(SACS):c.9762T>A (p.Ser3254=)
|
rs1883672788
|
|
NM_014363.6(SACS):c.9771G>A (p.Val3257=)
|
rs2137580934
|
|
NM_014363.6(SACS):c.9771G>C (p.Val3257=)
|
|
|
NM_014363.6(SACS):c.9786A>G (p.Glu3262=)
|
|
|
NM_014363.6(SACS):c.978A>G (p.Thr326=)
|
|
|
NM_014363.6(SACS):c.9791C>A (p.Thr3264Lys)
|
|
|
NM_014363.6(SACS):c.9801A>G (p.Thr3267=)
|
rs765872254
|
|
NM_014363.6(SACS):c.9807C>T (p.Asp3269=)
|
|
|
NM_014363.6(SACS):c.9815T>G (p.Val3272Gly)
|
|
|
NM_014363.6(SACS):c.9828A>T (p.Lys3276Asn)
|
|
|
NM_014363.6(SACS):c.9831C>T (p.Asp3277=)
|
|
|
NM_014363.6(SACS):c.9837A>G (p.Ala3279=)
|
rs2137580360
|
|
NM_014363.6(SACS):c.9846A>C (p.Pro3282=)
|
rs61753111
|
|
NM_014363.6(SACS):c.9850A>G (p.Thr3284Ala)
|
|
|
NM_014363.6(SACS):c.9858T>G (p.Phe3286Leu)
|
|
|
NM_014363.6(SACS):c.9861T>C (p.Thr3287=)
|
rs2137580158
|
|
NM_014363.6(SACS):c.9873C>T (p.Asn3291=)
|
rs2137580081
|
|
NM_014363.6(SACS):c.9888T>G (p.Pro3296=)
|
rs755440793
|
|
NM_014363.6(SACS):c.9891A>G (p.Glu3297=)
|
rs528073122
|
|
NM_014363.6(SACS):c.9903G>C (p.Leu3301=)
|
|
|
NM_014363.6(SACS):c.9906T>A (p.Leu3302=)
|
|
|
NM_014363.6(SACS):c.9909T>C (p.Pro3303=)
|
|
|
NM_014363.6(SACS):c.9910C>T (p.Leu3304Phe)
|
|
|
NM_014363.6(SACS):c.9912C>T (p.Leu3304=)
|
rs1593124372
|
|
NM_014363.6(SACS):c.9919A>C (p.Met3307Leu)
|
|
|
NM_014363.6(SACS):c.9925A>G (p.Ile3309Val)
|
|
|
NM_014363.6(SACS):c.9927T>G (p.Ile3309Met)
|
|
|
NM_014363.6(SACS):c.9938C>T (p.Pro3313Leu)
|
|
|
NM_014363.6(SACS):c.993T>C (p.Phe331=)
|
rs1870321510
|
|
NM_014363.6(SACS):c.9948G>A (p.Gln3316=)
|
|
|
NM_014363.6(SACS):c.9968C>T (p.Ala3323Val)
|
|
|
NM_014363.6(SACS):c.9969T>C (p.Ala3323=)
|
|
|
NM_014363.6(SACS):c.9970C>T (p.Leu3324=)
|
|
|
NM_014363.6(SACS):c.9972A>G (p.Leu3324=)
|
rs772412510
|
|
NM_014363.6(SACS):c.9981T>G (p.Ala3327=)
|
|
|
NM_014363.6(SACS):c.999G>C (p.Val333=)
|
rs2137726131
|
|
NM_014363.6(SACS):c.9C>T (p.Thr3=)
|
|
|
NM_015346.4(ZFYVE26):c.1017+11C>T
|
|
|
NM_015346.4(ZFYVE26):c.1017+16T>C
|
|
|
NM_015346.4(ZFYVE26):c.1017+8A>G
|
|
|
NM_015346.4(ZFYVE26):c.1018-11T>C
|
|
|
NM_015346.4(ZFYVE26):c.1018-12T>C
|
|
|
NM_015346.4(ZFYVE26):c.1018-19A>G
|
|
|
NM_015346.4(ZFYVE26):c.1018-4dup
|
rs2140250168
|
|
NM_015346.4(ZFYVE26):c.1020A>C (p.Val340=)
|
rs1281717550
|
|
NM_015346.4(ZFYVE26):c.1027C>T (p.Leu343=)
|
|
|
NM_015346.4(ZFYVE26):c.1029A>G (p.Leu343=)
|
|
|
NM_015346.4(ZFYVE26):c.1033T>C (p.Leu345=)
|
|
|
NM_015346.4(ZFYVE26):c.1035G>A (p.Leu345=)
|
|
|
NM_015346.4(ZFYVE26):c.105T>C (p.Cys35=)
|
rs2040392803
|
|
NM_015346.4(ZFYVE26):c.1092C>A (p.Pro364=)
|
|
|
NM_015346.4(ZFYVE26):c.1114C>T (p.Leu372=)
|
|
|
NM_015346.4(ZFYVE26):c.1119C>A (p.Gly373=)
|
|
|
NM_015346.4(ZFYVE26):c.1138C>T (p.Leu380=)
|
rs2140249990
|
|
NM_015346.4(ZFYVE26):c.1140A>G (p.Leu380=)
|
rs2140249986
|
|
NM_015346.4(ZFYVE26):c.1152G>A (p.Lys384=)
|
|
|
NM_015346.4(ZFYVE26):c.1161C>T (p.Leu387=)
|
|
|
NM_015346.4(ZFYVE26):c.1173C>T (p.His391=)
|
rs1457866223
|
|
NM_015346.4(ZFYVE26):c.1179C>G (p.Thr393=)
|
|
|
NM_015346.4(ZFYVE26):c.117A>G (p.Leu39=)
|
rs2140260875
|
|
NM_015346.4(ZFYVE26):c.1182+10A>T
|
|
|
NM_015346.4(ZFYVE26):c.1182+12T>G
|
|
|
NM_015346.4(ZFYVE26):c.1182+16C>T
|
|
|
NM_015346.4(ZFYVE26):c.1182+7C>G
|
rs745754548
|
|
NM_015346.4(ZFYVE26):c.1182+7C>T
|
rs745754548
|
|
NM_015346.4(ZFYVE26):c.1182+8_1182+9del
|
|
|
NM_015346.4(ZFYVE26):c.1183-12A>G
|
|
|
NM_015346.4(ZFYVE26):c.1183-13C>T
|
|
|
NM_015346.4(ZFYVE26):c.1183-16T>C
|
|
|
NM_015346.4(ZFYVE26):c.1183-17C>G
|
|
|
NM_015346.4(ZFYVE26):c.1183-4A>G
|
|
|
NM_015346.4(ZFYVE26):c.1185C>T (p.Gly395=)
|
rs2140249763
|
|
NM_015346.4(ZFYVE26):c.1188A>C (p.Pro396=)
|
rs2040155782
|
|
NM_015346.4(ZFYVE26):c.1188A>G (p.Pro396=)
|
rs2040155782
|
|
NM_015346.4(ZFYVE26):c.1194T>C (p.Cys398=)
|
rs2140249749
|
|
NM_015346.4(ZFYVE26):c.1197T>C (p.Asp399=)
|
|
|
NM_015346.4(ZFYVE26):c.1200G>A (p.Glu400=)
|
|
|
NM_015346.4(ZFYVE26):c.1203C>A (p.Leu401=)
|
rs1404366585
|
|
NM_015346.4(ZFYVE26):c.1203C>T (p.Leu401=)
|
|
|
NM_015346.4(ZFYVE26):c.120G>A (p.Gln40=)
|
rs2140260868
|
|
NM_015346.4(ZFYVE26):c.1227G>A (p.Leu409=)
|
rs1237173012
|
|
NM_015346.4(ZFYVE26):c.1233T>C (p.Ala411=)
|
rs1351690810
|
|
NM_015346.4(ZFYVE26):c.1271+10T>C
|
|
|
NM_015346.4(ZFYVE26):c.1271+11G>A
|
|
|
NM_015346.4(ZFYVE26):c.1271+14C>T
|
|
|
NM_015346.4(ZFYVE26):c.1271+20G>C
|
|
|
NM_015346.4(ZFYVE26):c.1271+9C>A
|
|
|
NM_015346.4(ZFYVE26):c.1272-16C>T
|
|
|
NM_015346.4(ZFYVE26):c.1272-6A>G
|
|
|
NM_015346.4(ZFYVE26):c.1272-8C>T
|
rs925033950
|
|
NM_015346.4(ZFYVE26):c.1272-9_1272-4del
|
|
|
NM_015346.4(ZFYVE26):c.1281A>T (p.Ile427=)
|
rs2140248715
|
|
NM_015346.4(ZFYVE26):c.1284A>G (p.Pro428=)
|
rs2140248706
|
|
NM_015346.4(ZFYVE26):c.1290A>G (p.Arg430=)
|
rs2140248693
|
|
NM_015346.4(ZFYVE26):c.1329A>G (p.Ser443=)
|
rs2140248638
|
|
NM_015346.4(ZFYVE26):c.1332G>A (p.Val444=)
|
rs373043055
|
|
NM_015346.4(ZFYVE26):c.1332G>T (p.Val444=)
|
rs373043055
|
|
NM_015346.4(ZFYVE26):c.1338C>T (p.Tyr446=)
|
|
|
NM_015346.4(ZFYVE26):c.1341T>C (p.Thr447=)
|
rs2140248619
|
|
NM_015346.4(ZFYVE26):c.1347T>C (p.His449=)
|
|
|
NM_015346.4(ZFYVE26):c.1350C>T (p.His450=)
|
rs2140248607
|
|
NM_015346.4(ZFYVE26):c.1353T>A (p.Leu451=)
|
rs2140248601
|
|
NM_015346.4(ZFYVE26):c.135T>C (p.Asp45=)
|
rs2140260852
|
|
NM_015346.4(ZFYVE26):c.1368C>A (p.Ala456=)
|
|
|
NM_015346.4(ZFYVE26):c.1392G>A (p.Lys464=)
|
rs1476920248
|
|
NM_015346.4(ZFYVE26):c.1398A>G (p.Leu466=)
|
|
|
NM_015346.4(ZFYVE26):c.1410A>C (p.Pro470=)
|
rs200601644
|
|
NM_015346.4(ZFYVE26):c.141A>G (p.Pro47=)
|
rs2140260850
|
|
NM_015346.4(ZFYVE26):c.1436-16T>G
|
|
|
NM_015346.4(ZFYVE26):c.1436-5T>C
|
|
|
NM_015346.4(ZFYVE26):c.1440A>G (p.Ala480=)
|
|
|
NM_015346.4(ZFYVE26):c.1449T>A (p.Ala483=)
|
rs2140246869
|
|
NM_015346.4(ZFYVE26):c.144G>A (p.Lys48=)
|
|
|
NM_015346.4(ZFYVE26):c.1461G>A (p.Glu487=)
|
rs2040092705
|
|
NM_015346.4(ZFYVE26):c.1465C>T (p.Leu489=)
|
|
|
NM_015346.4(ZFYVE26):c.1467G>C (p.Leu489=)
|
|
|
NM_015346.4(ZFYVE26):c.1476T>C (p.Cys492=)
|
|
|
NM_015346.4(ZFYVE26):c.1503C>T (p.Phe501=)
|
|
|
NM_015346.4(ZFYVE26):c.1521C>T (p.Ala507=)
|
|
|
NM_015346.4(ZFYVE26):c.1530C>T (p.Ala510=)
|
|
|
NM_015346.4(ZFYVE26):c.1539A>G (p.Val513=)
|
rs2140246736
|
|
NM_015346.4(ZFYVE26):c.1542C>T (p.Asn514=)
|
|
|
NM_015346.4(ZFYVE26):c.1596G>A (p.Leu532=)
|
|
|
NM_015346.4(ZFYVE26):c.1599C>T (p.Ala533=)
|
|
|
NM_015346.4(ZFYVE26):c.1605T>C (p.Ala535=)
|
|
|
NM_015346.4(ZFYVE26):c.1608A>G (p.Thr536=)
|
|
|
NM_015346.4(ZFYVE26):c.1617G>A (p.Ala539=)
|
rs771594278
|
|
NM_015346.4(ZFYVE26):c.1629C>T (p.Leu543=)
|
|
|
NM_015346.4(ZFYVE26):c.1639+18A>T
|
|
|
NM_015346.4(ZFYVE26):c.1639+19T>C
|
|
|
NM_015346.4(ZFYVE26):c.1639+7C>A
|
rs2140246634
|
|
NM_015346.4(ZFYVE26):c.1639+9C>T
|
rs1369382893
|
|
NM_015346.4(ZFYVE26):c.1640-10G>A
|
|
|
NM_015346.4(ZFYVE26):c.1640-19C>A
|
|
|
NM_015346.4(ZFYVE26):c.1640-20T>C
|
|
|
NM_015346.4(ZFYVE26):c.1640-4G>T
|
rs1466959406
|
|
NM_015346.4(ZFYVE26):c.1640-6T>C
|
rs2140243511
|
|
NM_015346.4(ZFYVE26):c.1644T>G (p.Ala548=)
|
|
|
NM_015346.4(ZFYVE26):c.1656C>T (p.Phe552=)
|
|
|
NM_015346.4(ZFYVE26):c.165G>A (p.Gln55=)
|
rs186914861
|
|
NM_015346.4(ZFYVE26):c.1671C>T (p.Ala557=)
|
rs372239298
|
|
NM_015346.4(ZFYVE26):c.1686T>C (p.Tyr562=)
|
rs2140243442
|
|
NM_015346.4(ZFYVE26):c.168A>C (p.Ala56=)
|
|
|
NM_015346.4(ZFYVE26):c.168A>G (p.Ala56=)
|
rs778455420
|
|
NM_015346.4(ZFYVE26):c.1714C>T (p.Leu572=)
|
|
|
NM_015346.4(ZFYVE26):c.1716G>A (p.Leu572=)
|
|
|
NM_015346.4(ZFYVE26):c.1740A>G (p.Ser580=)
|
rs985545374
|
|
NM_015346.4(ZFYVE26):c.1761T>A (p.Ala587=)
|
|
|
NM_015346.4(ZFYVE26):c.1773A>C (p.Pro591=)
|
rs2140243335
|
|
NM_015346.4(ZFYVE26):c.177G>A (p.Val59=)
|
rs2140260764
|
|
NM_015346.4(ZFYVE26):c.1803G>A (p.Glu601=)
|
rs2140243297
|
|
NM_015346.4(ZFYVE26):c.180T>C (p.Cys60=)
|
|
|
NM_015346.4(ZFYVE26):c.1812C>T (p.Asp604=)
|
rs1784217528
|
|
NM_015346.4(ZFYVE26):c.1815T>C (p.Ile605=)
|
rs747969543
|
|
NM_015346.4(ZFYVE26):c.1827C>T (p.Ser609=)
|
rs2140243246
|
|
NM_015346.4(ZFYVE26):c.1830C>G (p.Pro610=)
|
|
|
NM_015346.4(ZFYVE26):c.1837T>C (p.Leu613=)
|
rs1594930587
|
|
NM_015346.4(ZFYVE26):c.1848A>G (p.Pro616=)
|
|
|
NM_015346.4(ZFYVE26):c.1866C>T (p.His622=)
|
rs1283832558
|
|
NM_015346.4(ZFYVE26):c.1875T>C (p.His625=)
|
rs2140243137
|
|
NM_015346.4(ZFYVE26):c.1878T>C (p.Pro626=)
|
|
|
NM_015346.4(ZFYVE26):c.187C>T (p.Leu63=)
|
rs2140260743
|
|
NM_015346.4(ZFYVE26):c.1890A>C (p.Ser630=)
|
|
|
NM_015346.4(ZFYVE26):c.189G>A (p.Leu63=)
|
|
|
NM_015346.4(ZFYVE26):c.1902C>T (p.Ser634=)
|
rs776527539
|
|
NM_015346.4(ZFYVE26):c.1905G>A (p.Leu635=)
|
|
|
NM_015346.4(ZFYVE26):c.1905G>C (p.Leu635=)
|
rs2040003657
|
|
NM_015346.4(ZFYVE26):c.1908A>C (p.Gly636=)
|
rs2140243108
|
|
NM_015346.4(ZFYVE26):c.1926T>C (p.Ala642=)
|
|
|
NM_015346.4(ZFYVE26):c.192G>A (p.Leu64=)
|
|
|
NM_015346.4(ZFYVE26):c.1938A>G (p.Pro646=)
|
rs1594930407
|
|
NM_015346.4(ZFYVE26):c.194+12C>A
|
|
|
NM_015346.4(ZFYVE26):c.194+17C>T
|
|
|
NM_015346.4(ZFYVE26):c.194+18C>T
|
|
|
NM_015346.4(ZFYVE26):c.194+20A>C
|
|
|
NM_015346.4(ZFYVE26):c.1944T>C (p.His648=)
|
rs1466130502
|
|
NM_015346.4(ZFYVE26):c.195-10C>T
|
|
|
NM_015346.4(ZFYVE26):c.195-15T>G
|
|
|
NM_015346.4(ZFYVE26):c.195-4T>G
|
|
|
NM_015346.4(ZFYVE26):c.195-9C>A
|
rs2040352675
|
|
NM_015346.4(ZFYVE26):c.1953A>G (p.Ala651=)
|
rs778059743
|
|
NM_015346.4(ZFYVE26):c.1956G>A (p.Glu652=)
|
rs2140243023
|
|
NM_015346.4(ZFYVE26):c.1962A>G (p.Lys654=)
|
rs2140243011
|
|
NM_015346.4(ZFYVE26):c.1965C>T (p.Asp655=)
|
|
|
NM_015346.4(ZFYVE26):c.1977G>C (p.Gly659=)
|
|
|
NM_015346.4(ZFYVE26):c.1983T>C (p.His661=)
|
rs892896927
|
|
NM_015346.4(ZFYVE26):c.1995T>C (p.Phe665=)
|
|
|
NM_015346.4(ZFYVE26):c.2058G>A (p.Gly686=)
|
|
|
NM_015346.4(ZFYVE26):c.2067C>A (p.Leu689=)
|
rs141880939
|
|
NM_015346.4(ZFYVE26):c.2070G>A (p.Arg690=)
|
rs911420369
|
|
NM_015346.4(ZFYVE26):c.2076C>T (p.Leu692=)
|
rs2140242822
|
|
NM_015346.4(ZFYVE26):c.2086C>T (p.Leu696=)
|
rs2140242807
|
|
NM_015346.4(ZFYVE26):c.2091T>C (p.Asp697=)
|
rs2140242793
|
|
NM_015346.4(ZFYVE26):c.2106C>T (p.Arg702=)
|
|
|
NM_015346.4(ZFYVE26):c.2142C>T (p.Ser714=)
|
|
|
NM_015346.4(ZFYVE26):c.2155A>C (p.Arg719=)
|
rs1022816860
|
|
NM_015346.4(ZFYVE26):c.2164C>T (p.Leu722=)
|
|
|
NM_015346.4(ZFYVE26):c.2190C>T (p.Ser730=)
|
rs2140242635
|
|
NM_015346.4(ZFYVE26):c.2199C>A (p.Val733=)
|
|
|
NM_015346.4(ZFYVE26):c.2199C>T (p.Val733=)
|
rs2140242617
|
|
NM_015346.4(ZFYVE26):c.2202T>C (p.Ser734=)
|
rs2140242614
|
|
NM_015346.4(ZFYVE26):c.2229G>A (p.Val743=)
|
rs1213595669
|
|
NM_015346.4(ZFYVE26):c.2238C>T (p.Asn746=)
|
|
|
NM_015346.4(ZFYVE26):c.2241T>C (p.His747=)
|
|
|
NM_015346.4(ZFYVE26):c.2248+10G>A
|
|
|
NM_015346.4(ZFYVE26):c.2248+10G>C
|
|
|
NM_015346.4(ZFYVE26):c.2248+12G>T
|
|
|
NM_015346.4(ZFYVE26):c.2248+14G>T
|
|
|
NM_015346.4(ZFYVE26):c.2249-17T>C
|
|
|
NM_015346.4(ZFYVE26):c.2249-20C>T
|
|
|
NM_015346.4(ZFYVE26):c.2259T>C (p.Pro753=)
|
|
|
NM_015346.4(ZFYVE26):c.2268A>G (p.Arg756=)
|
|
|
NM_015346.4(ZFYVE26):c.2274G>A (p.Gln758=)
|
rs2140242219
|
|
NM_015346.4(ZFYVE26):c.2283A>G (p.Thr761=)
|
|
|
NM_015346.4(ZFYVE26):c.2313G>C (p.Arg771=)
|
|
|
NM_015346.4(ZFYVE26):c.2316A>G (p.Thr772=)
|
|
|
NM_015346.4(ZFYVE26):c.2325C>T (p.Ser775=)
|
rs771531866
|
|
NM_015346.4(ZFYVE26):c.2332+13G>T
|
|
|
NM_015346.4(ZFYVE26):c.2332+14C>T
|
|
|
NM_015346.4(ZFYVE26):c.2332+16C>T
|
|
|
NM_015346.4(ZFYVE26):c.2332+17A>G
|
|
|
NM_015346.4(ZFYVE26):c.2333-10A>C
|
|
|
NM_015346.4(ZFYVE26):c.2333-12C>T
|
|
|
NM_015346.4(ZFYVE26):c.2333-6del
|
rs2140238577
|
|
NM_015346.4(ZFYVE26):c.234C>T (p.Val78=)
|
rs777331673
|
|
NM_015346.4(ZFYVE26):c.2355C>T (p.Asn785=)
|
rs1371849482
|
|
NM_015346.4(ZFYVE26):c.2358A>G (p.Pro786=)
|
rs2140238529
|
|
NM_015346.4(ZFYVE26):c.2385G>C (p.Leu795=)
|
|
|
NM_015346.4(ZFYVE26):c.2397G>C (p.Thr799=)
|
|
|
NM_015346.4(ZFYVE26):c.2401+10T>A
|
rs2140238468
|
|
NM_015346.4(ZFYVE26):c.2401+14C>T
|
|
|
NM_015346.4(ZFYVE26):c.2401+17C>T
|
|
|
NM_015346.4(ZFYVE26):c.2402-10G>A
|
|
|
NM_015346.4(ZFYVE26):c.2402-12G>C
|
|
|
NM_015346.4(ZFYVE26):c.2402-17T>C
|
|
|
NM_015346.4(ZFYVE26):c.2402-7C>A
|
|
|
NM_015346.4(ZFYVE26):c.2412G>A (p.Leu804=)
|
rs1412341484
|
|
NM_015346.4(ZFYVE26):c.2418C>G (p.Ala806=)
|
|
|
NM_015346.4(ZFYVE26):c.2430G>T (p.Arg810=)
|
rs767034399
|
|
NM_015346.4(ZFYVE26):c.2449T>C (p.Leu817=)
|
|
|
NM_015346.4(ZFYVE26):c.2451G>A (p.Leu817=)
|
rs774054118
|
|
NM_015346.4(ZFYVE26):c.2454C>T (p.His818=)
|
rs749100804
|
|
NM_015346.4(ZFYVE26):c.2469T>C (p.Ser823=)
|
rs2140237850
|
|
NM_015346.4(ZFYVE26):c.2475C>T (p.Leu825=)
|
|
|
NM_015346.4(ZFYVE26):c.2493C>T (p.Ser831=)
|
rs2140237813
|
|
NM_015346.4(ZFYVE26):c.2499T>G (p.Pro833=)
|
|
|
NM_015346.4(ZFYVE26):c.2520C>T (p.Cys840=)
|
rs946599979
|
|
NM_015346.4(ZFYVE26):c.2523C>T (p.Ile841=)
|
|
|
NM_015346.4(ZFYVE26):c.2532G>C (p.Gly844=)
|
|
|
NM_015346.4(ZFYVE26):c.2547C>G (p.Ala849=)
|
rs2140237709
|
|
NM_015346.4(ZFYVE26):c.2547C>T (p.Ala849=)
|
|
|
NM_015346.4(ZFYVE26):c.2553+11G>T
|
|
|
NM_015346.4(ZFYVE26):c.2553+15T>C
|
|
|
NM_015346.4(ZFYVE26):c.2553+17C>A
|
|
|
NM_015346.4(ZFYVE26):c.2553+18C>T
|
|
|
NM_015346.4(ZFYVE26):c.2553+7G>A
|
|
|
NM_015346.4(ZFYVE26):c.2553+8G>A
|
rs1355900379
|
|
NM_015346.4(ZFYVE26):c.2554-10C>T
|
rs776617186
|
|
NM_015346.4(ZFYVE26):c.2554-14C>A
|
|
|
NM_015346.4(ZFYVE26):c.2554-15C>G
|
|
|
NM_015346.4(ZFYVE26):c.2554-16C>T
|
|
|
NM_015346.4(ZFYVE26):c.2554-18_2554-17insCCCACACACGGTGGT
|
|
|
NM_015346.4(ZFYVE26):c.2554-19A>G
|
|
|
NM_015346.4(ZFYVE26):c.2554-7A>G
|
rs981289310
|
|
NM_015346.4(ZFYVE26):c.2554-8T>C
|
|
|
NM_015346.4(ZFYVE26):c.2554-9dup
|
|
|
NM_015346.4(ZFYVE26):c.2556G>A (p.Val852=)
|
rs775588697
|
|
NM_015346.4(ZFYVE26):c.2557C>T (p.Leu853=)
|
|
|
NM_015346.4(ZFYVE26):c.255A>G (p.Lys85=)
|
|
|
NM_015346.4(ZFYVE26):c.2562C>T (p.Phe854=)
|
rs2140234236
|
|
NM_015346.4(ZFYVE26):c.2565G>A (p.Thr855=)
|
rs145738942
|
|
NM_015346.4(ZFYVE26):c.2565G>C (p.Thr855=)
|
|
|
NM_015346.4(ZFYVE26):c.2586C>A (p.Pro862=)
|
|
|
NM_015346.4(ZFYVE26):c.2586C>T (p.Pro862=)
|
rs2140234178
|
|
NM_015346.4(ZFYVE26):c.2592A>T (p.Ser864=)
|
rs562348210
|
|
NM_015346.4(ZFYVE26):c.2613G>A (p.Glu871=)
|
rs2140234135
|
|
NM_015346.4(ZFYVE26):c.2625A>G (p.Glu875=)
|
rs2140234103
|
|
NM_015346.4(ZFYVE26):c.2628G>T (p.Val876=)
|
|
|
NM_015346.4(ZFYVE26):c.2646A>G (p.Gln882=)
|
rs1387946575
|
|
NM_015346.4(ZFYVE26):c.2661T>C (p.Ile887=)
|
rs765172292
|
|
NM_015346.4(ZFYVE26):c.2667C>T (p.Asn889=)
|
rs2140234047
|
|
NM_015346.4(ZFYVE26):c.2673C>T (p.Asn891=)
|
rs2039788312
|
|
NM_015346.4(ZFYVE26):c.2679T>C (p.Asp893=)
|
|
|
NM_015346.4(ZFYVE26):c.267G>A (p.Arg89=)
|
rs2140258922
|
|
NM_015346.4(ZFYVE26):c.2685T>C (p.Gly895=)
|
|
|
NM_015346.4(ZFYVE26):c.2691C>T (p.Ser897=)
|
rs1305710562
|
|
NM_015346.4(ZFYVE26):c.2694C>G (p.Thr898=)
|
|
|
NM_015346.4(ZFYVE26):c.2724T>C (p.Thr908=)
|
rs150063715
|
|
NM_015346.4(ZFYVE26):c.2727A>G (p.Leu909=)
|
rs1594922354
|
|
NM_015346.4(ZFYVE26):c.273+12dup
|
|
|
NM_015346.4(ZFYVE26):c.2733C>G (p.Ala911=)
|
|
|
NM_015346.4(ZFYVE26):c.2736T>C (p.Ile912=)
|
|
|
NM_015346.4(ZFYVE26):c.274-6T>C
|
|
|
NM_015346.4(ZFYVE26):c.2751A>G (p.Ala917=)
|
rs748448880
|
|
NM_015346.4(ZFYVE26):c.2755+8T>C
|
|
|
NM_015346.4(ZFYVE26):c.2756-11T>C
|
|
|
NM_015346.4(ZFYVE26):c.2756-13G>A
|
|
|
NM_015346.4(ZFYVE26):c.2756-18C>T
|
|
|
NM_015346.4(ZFYVE26):c.2756-5G>T
|
rs2140232758
|
|
NM_015346.4(ZFYVE26):c.2763G>A (p.Val921=)
|
|
|
NM_015346.4(ZFYVE26):c.2793G>A (p.Lys931=)
|
|
|
NM_015346.4(ZFYVE26):c.2796G>A (p.Leu932=)
|
rs2140232652
|
|
NM_015346.4(ZFYVE26):c.279A>G (p.Leu93=)
|
rs2140253861
|
|
NM_015346.4(ZFYVE26):c.2805C>T (p.Thr935=)
|
rs772761310
|
|
NM_015346.4(ZFYVE26):c.2820C>A (p.Ile940=)
|
|
|
NM_015346.4(ZFYVE26):c.2820C>T (p.Ile940=)
|
rs866746104
|
|
NM_015346.4(ZFYVE26):c.2829C>G (p.Leu943=)
|
|
|
NM_015346.4(ZFYVE26):c.282C>T (p.Leu94=)
|
|
|
NM_015346.4(ZFYVE26):c.2838C>T (p.Asp946=)
|
rs1594921324
|
|
NM_015346.4(ZFYVE26):c.2841T>C (p.Phe947=)
|
rs2140232569
|
|
NM_015346.4(ZFYVE26):c.2859A>G (p.Leu953=)
|
rs189616103
|
|
NM_015346.4(ZFYVE26):c.285A>C (p.Pro95=)
|
rs1398992728
|
|
NM_015346.4(ZFYVE26):c.2877C>T (p.Pro959=)
|
rs2039752952
|
|
NM_015346.4(ZFYVE26):c.2878C>T (p.Leu960=)
|
rs2140232490
|
|
NM_015346.4(ZFYVE26):c.2890C>T (p.Leu964=)
|
rs2140232466
|
|
NM_015346.4(ZFYVE26):c.2892G>A (p.Leu964=)
|
rs1814057819
|
|
NM_015346.4(ZFYVE26):c.2904T>C (p.Ser968=)
|
rs1594921215
|
|
NM_015346.4(ZFYVE26):c.2910T>A (p.Pro970=)
|
rs573175182
|
|
NM_015346.4(ZFYVE26):c.2913C>T (p.Ala971=)
|
|
|
NM_015346.4(ZFYVE26):c.2946C>T (p.Cys982=)
|
rs2140232345
|
|
NM_015346.4(ZFYVE26):c.297G>T (p.Arg99=)
|
rs2140253830
|
|
NM_015346.4(ZFYVE26):c.3000T>C (p.Asn1000=)
|
rs2140232254
|
|
NM_015346.4(ZFYVE26):c.3019+10C>A
|
|
|
NM_015346.4(ZFYVE26):c.3019+10C>T
|
rs2140232204
|
|
NM_015346.4(ZFYVE26):c.3019+11del
|
|
|
NM_015346.4(ZFYVE26):c.3019+12G>A
|
|
|
NM_015346.4(ZFYVE26):c.3019+13T>A
|
|
|
NM_015346.4(ZFYVE26):c.3019+14G>T
|
|
|
NM_015346.4(ZFYVE26):c.3019+7G>A
|
rs2039746690
|
|
NM_015346.4(ZFYVE26):c.3020-10_3020-7del
|
|
|
NM_015346.4(ZFYVE26):c.3020-12A>C
|
|
|
NM_015346.4(ZFYVE26):c.3020-12A>G
|
|
|
NM_015346.4(ZFYVE26):c.3020-16_3020-13del
|
|
|
NM_015346.4(ZFYVE26):c.3020-5T>C
|
rs2140228255
|
|
NM_015346.4(ZFYVE26):c.3020-8A>G
|
|
|
NM_015346.4(ZFYVE26):c.3039A>G (p.Val1013=)
|
|
|
NM_015346.4(ZFYVE26):c.3063A>T (p.Arg1021=)
|
rs2140228123
|
|
NM_015346.4(ZFYVE26):c.3096G>A (p.Lys1032=)
|
|
|
NM_015346.4(ZFYVE26):c.309G>A (p.Glu103=)
|
|
|
NM_015346.4(ZFYVE26):c.3108T>C (p.Tyr1036=)
|
|
|
NM_015346.4(ZFYVE26):c.3123C>T (p.Ala1041=)
|
rs2140228012
|
|
NM_015346.4(ZFYVE26):c.3129A>G (p.Gln1043=)
|
rs2140227998
|
|
NM_015346.4(ZFYVE26):c.3139+12T>C
|
|
|
NM_015346.4(ZFYVE26):c.3139+14T>C
|
|
|
NM_015346.4(ZFYVE26):c.3139+20T>C
|
|
|
NM_015346.4(ZFYVE26):c.3139+7T>A
|
|
|
NM_015346.4(ZFYVE26):c.3139+7T>G
|
rs2140227979
|
|
NM_015346.4(ZFYVE26):c.3139+9C>G
|
rs1594917487
|
|
NM_015346.4(ZFYVE26):c.3140-14T>A
|
|
|
NM_015346.4(ZFYVE26):c.3140-14T>C
|
|
|
NM_015346.4(ZFYVE26):c.3140-15A>G
|
|
|
NM_015346.4(ZFYVE26):c.3140-16C>T
|
|
|
NM_015346.4(ZFYVE26):c.3140-20T>C
|
|
|
NM_015346.4(ZFYVE26):c.3140-4A>G
|
|
|
NM_015346.4(ZFYVE26):c.3150A>G (p.Glu1050=)
|
|
|
NM_015346.4(ZFYVE26):c.315T>C (p.Leu105=)
|
|
|
NM_015346.4(ZFYVE26):c.3174G>A (p.Arg1058=)
|
rs2039644795
|
|
NM_015346.4(ZFYVE26):c.3177C>T (p.Cys1059=)
|
|
|
NM_015346.4(ZFYVE26):c.319T>C (p.Leu107=)
|
rs1475441803
|
|
NM_015346.4(ZFYVE26):c.3204C>T (p.Cys1068=)
|
rs2039643318
|
|
NM_015346.4(ZFYVE26):c.3210C>A (p.Pro1070=)
|
|
|
NM_015346.4(ZFYVE26):c.321G>A (p.Leu107=)
|
rs2040243641
|
|
NM_015346.4(ZFYVE26):c.3222G>A (p.Glu1074=)
|
rs1412659616
|
|
NM_015346.4(ZFYVE26):c.3243C>T (p.Thr1081=)
|
|
|
NM_015346.4(ZFYVE26):c.3248_3253del (p.Leu1083_Ser1084del)
|
rs761454264
|
|
NM_015346.4(ZFYVE26):c.3252C>T (p.Ser1084=)
|
rs1211102900
|
|
NM_015346.4(ZFYVE26):c.3288G>A (p.Glu1096=)
|
rs966535038
|
|
NM_015346.4(ZFYVE26):c.3291A>G (p.Ala1097=)
|
rs1017733323
|
|
NM_015346.4(ZFYVE26):c.3292C>T (p.Leu1098=)
|
rs2140227554
|
|
NM_015346.4(ZFYVE26):c.3298C>T (p.Leu1100=)
|
|
|
NM_015346.4(ZFYVE26):c.3304+10T>G
|
rs1210843882
|
|
NM_015346.4(ZFYVE26):c.3304+15G>A
|
|
|
NM_015346.4(ZFYVE26):c.3304+16C>T
|
|
|
NM_015346.4(ZFYVE26):c.3304+17T>C
|
|
|
NM_015346.4(ZFYVE26):c.3304+20G>A
|
|
|
NM_015346.4(ZFYVE26):c.3304+8G>C
|
rs750205035
|
|
NM_015346.4(ZFYVE26):c.3304+8G>T
|
rs750205035
|
|
NM_015346.4(ZFYVE26):c.3305-10C>T
|
rs948493869
|
|
NM_015346.4(ZFYVE26):c.3305-13A>G
|
|
|
NM_015346.4(ZFYVE26):c.3305-14C>T
|
|
|
NM_015346.4(ZFYVE26):c.3305-15C>T
|
|
|
NM_015346.4(ZFYVE26):c.3305-16G>A
|
rs1753579056
|
|
NM_015346.4(ZFYVE26):c.3305-16G>T
|
|
|
NM_015346.4(ZFYVE26):c.3305-7C>T
|
|
|
NM_015346.4(ZFYVE26):c.3315T>C (p.Thr1105=)
|
rs2140226686
|
|
NM_015346.4(ZFYVE26):c.3321A>G (p.Pro1107=)
|
rs2140226670
|
|
NM_015346.4(ZFYVE26):c.3336G>A (p.Val1112=)
|
rs758075428
|
|
NM_015346.4(ZFYVE26):c.3336G>T (p.Val1112=)
|
rs758075428
|
|
NM_015346.4(ZFYVE26):c.3339G>A (p.Glu1113=)
|
|
|
NM_015346.4(ZFYVE26):c.3345A>G (p.Ala1115=)
|
rs2140226629
|
|
NM_015346.4(ZFYVE26):c.3360A>G (p.Pro1120=)
|
|
|
NM_015346.4(ZFYVE26):c.3369G>A (p.Glu1123=)
|
|
|
NM_015346.4(ZFYVE26):c.3372C>T (p.Ala1124=)
|
|
|
NM_015346.4(ZFYVE26):c.3384G>A (p.Gln1128=)
|
rs1413616312
|
|
NM_015346.4(ZFYVE26):c.3396G>A (p.Gln1132=)
|
|
|
NM_015346.4(ZFYVE26):c.3399C>T (p.Leu1133=)
|
rs763208198
|
|
NM_015346.4(ZFYVE26):c.342C>T (p.Asp114=)
|
|
|
NM_015346.4(ZFYVE26):c.3454T>C (p.Leu1152=)
|
rs755944154
|
|
NM_015346.4(ZFYVE26):c.3480C>T (p.Ser1160=)
|
|
|
NM_015346.4(ZFYVE26):c.3492A>C (p.Ala1164=)
|
rs1594916009
|
|
NM_015346.4(ZFYVE26):c.3510G>A (p.Leu1170=)
|
|
|
NM_015346.4(ZFYVE26):c.3519G>A (p.Glu1173=)
|
|
|
NM_015346.4(ZFYVE26):c.3523+10A>C
|
rs2140226258
|
|
NM_015346.4(ZFYVE26):c.3523+15A>G
|
|
|
NM_015346.4(ZFYVE26):c.3523+19G>A
|
|
|
NM_015346.4(ZFYVE26):c.3523+7A>G
|
|
|
NM_015346.4(ZFYVE26):c.3525T>C (p.Asp1175=)
|
rs751602809
|
|
NM_015346.4(ZFYVE26):c.3528T>C (p.His1176=)
|
rs2039595593
|
|
NM_015346.4(ZFYVE26):c.3531G>A (p.Val1177=)
|
rs2140225411
|
|
NM_015346.4(ZFYVE26):c.3534G>A (p.Glu1178=)
|
|
|
NM_015346.4(ZFYVE26):c.354C>T (p.Asn118=)
|
rs2040243048
|
|
NM_015346.4(ZFYVE26):c.3591A>C (p.Ser1197=)
|
|
|
NM_015346.4(ZFYVE26):c.3591A>G (p.Ser1197=)
|
rs1594915153
|
|
NM_015346.4(ZFYVE26):c.3594T>C (p.His1198=)
|
rs2140225343
|
|
NM_015346.4(ZFYVE26):c.3603T>C (p.Phe1201=)
|
|
|
NM_015346.4(ZFYVE26):c.360C>T (p.Leu120=)
|
|
|
NM_015346.4(ZFYVE26):c.3621A>G (p.Pro1207=)
|
rs776692192
|
|
NM_015346.4(ZFYVE26):c.3624G>A (p.Glu1208=)
|
rs2039592354
|
|
NM_015346.4(ZFYVE26):c.3626+16A>G
|
|
|
NM_015346.4(ZFYVE26):c.3626+18G>A
|
|
|
NM_015346.4(ZFYVE26):c.3626+8C>G
|
rs2039591963
|
|
NM_015346.4(ZFYVE26):c.3627-13T>G
|
|
|
NM_015346.4(ZFYVE26):c.3627-16G>A
|
|
|
NM_015346.4(ZFYVE26):c.3627-8C>T
|
|
|
NM_015346.4(ZFYVE26):c.363+10A>G
|
|
|
NM_015346.4(ZFYVE26):c.363+11G>C
|
|
|
NM_015346.4(ZFYVE26):c.363+13C>T
|
|
|
NM_015346.4(ZFYVE26):c.363+14C>G
|
|
|
NM_015346.4(ZFYVE26):c.363+9G>A
|
rs2140253712
|
|
NM_015346.4(ZFYVE26):c.3630G>T (p.Leu1210=)
|
|
|
NM_015346.4(ZFYVE26):c.364-10C>T
|
|
|
NM_015346.4(ZFYVE26):c.364-13A>G
|
|
|
NM_015346.4(ZFYVE26):c.364-17C>T
|
|
|
NM_015346.4(ZFYVE26):c.364-9T>C
|
rs1462792938
|
|
NM_015346.4(ZFYVE26):c.3645C>T (p.Ala1215=)
|
|
|
NM_015346.4(ZFYVE26):c.3648A>G (p.Gln1216=)
|
|
|
NM_015346.4(ZFYVE26):c.3651G>A (p.Glu1217=)
|
rs1308302728
|
|
NM_015346.4(ZFYVE26):c.3657C>T (p.Leu1219=)
|
|
|
NM_015346.4(ZFYVE26):c.3663A>G (p.Leu1221=)
|
|
|
NM_015346.4(ZFYVE26):c.3669G>A (p.Val1223=)
|
|
|
NM_015346.4(ZFYVE26):c.366G>A (p.Glu122=)
|
|
|
NM_015346.4(ZFYVE26):c.3672A>G (p.Pro1224=)
|
rs2140223998
|
|
NM_015346.4(ZFYVE26):c.3681C>T (p.Ile1227=)
|
rs141264277
|
|
NM_015346.4(ZFYVE26):c.369G>C (p.Leu123=)
|
rs918553976
|
|
NM_015346.4(ZFYVE26):c.36G>A (p.Ser12=)
|
rs781768644
|
|
NM_015346.4(ZFYVE26):c.3708T>C (p.Ala1236=)
|
rs2140223893
|
|
NM_015346.4(ZFYVE26):c.3714C>T (p.Cys1238=)
|
|
|
NM_015346.4(ZFYVE26):c.3738C>T (p.Thr1246=)
|
rs2140223811
|
|
NM_015346.4(ZFYVE26):c.3741C>G (p.Ser1247=)
|
|
|
NM_015346.4(ZFYVE26):c.3741C>T (p.Ser1247=)
|
|
|
NM_015346.4(ZFYVE26):c.3750G>A (p.Leu1250=)
|
rs2140223784
|
|
NM_015346.4(ZFYVE26):c.3762T>G (p.Gly1254=)
|
|
|
NM_015346.4(ZFYVE26):c.3771C>A (p.Ala1257=)
|
rs2140223746
|
|
NM_015346.4(ZFYVE26):c.3795G>A (p.Leu1265=)
|
|
|
NM_015346.4(ZFYVE26):c.3804C>T (p.Leu1268=)
|
rs2140223675
|
|
NM_015346.4(ZFYVE26):c.3807A>G (p.Pro1269=)
|
rs2039558911
|
|
NM_015346.4(ZFYVE26):c.3828G>A (p.Pro1276=)
|
rs372552407
|
|
NM_015346.4(ZFYVE26):c.3846T>A (p.Pro1282=)
|
rs1057523453
|
|
NM_015346.4(ZFYVE26):c.3850T>C (p.Leu1284=)
|
|
|
NM_015346.4(ZFYVE26):c.3870C>G (p.Ser1290=)
|
rs2140223540
|
|
NM_015346.4(ZFYVE26):c.3870C>T (p.Ser1290=)
|
rs2140223540
|
|
NM_015346.4(ZFYVE26):c.3877A>C (p.Arg1293=)
|
rs770011030
|
|
NM_015346.4(ZFYVE26):c.3885A>G (p.Ser1295=)
|
rs2140223512
|
|
NM_015346.4(ZFYVE26):c.3888A>G (p.Ser1296=)
|
rs1594913550
|
|
NM_015346.4(ZFYVE26):c.3897C>A (p.Ala1299=)
|
|
|
NM_015346.4(ZFYVE26):c.393A>T (p.Ala131=)
|
|
|
NM_015346.4(ZFYVE26):c.3942C>T (p.Leu1314=)
|
|
|
NM_015346.4(ZFYVE26):c.3948T>C (p.Ala1316=)
|
|
|
NM_015346.4(ZFYVE26):c.3954G>T (p.Val1318=)
|
rs766376935
|
|
NM_015346.4(ZFYVE26):c.3957C>A (p.Ala1319=)
|
|
|
NM_015346.4(ZFYVE26):c.3957C>G (p.Ala1319=)
|
|
|
NM_015346.4(ZFYVE26):c.3957C>T (p.Ala1319=)
|
rs2140223360
|
|
NM_015346.4(ZFYVE26):c.3960C>T (p.Cys1320=)
|
|
|
NM_015346.4(ZFYVE26):c.396A>G (p.Val132=)
|
|
|
NM_015346.4(ZFYVE26):c.3975G>C (p.Pro1325=)
|
|
|
NM_015346.4(ZFYVE26):c.3975G>T (p.Pro1325=)
|
rs954507732
|
|
NM_015346.4(ZFYVE26):c.3978G>A (p.Arg1326=)
|
|
|
NM_015346.4(ZFYVE26):c.3987C>T (p.Val1329=)
|
rs746375851
|
|
NM_015346.4(ZFYVE26):c.399C>T (p.Gly133=)
|
rs760205577
|
|
NM_015346.4(ZFYVE26):c.4014A>G (p.Glu1338=)
|
rs2140223226
|
|
NM_015346.4(ZFYVE26):c.4020T>C (p.Arg1340=)
|
rs1594913273
|
|
NM_015346.4(ZFYVE26):c.4023C>G (p.Gly1341=)
|
rs2039550135
|
|
NM_015346.4(ZFYVE26):c.4029G>A (p.Arg1343=)
|
rs1201863887
|
|
NM_015346.4(ZFYVE26):c.4038T>G (p.Pro1346=)
|
|
|
NM_015346.4(ZFYVE26):c.4050G>A (p.Glu1350=)
|
|
|
NM_015346.4(ZFYVE26):c.405G>T (p.Val135=)
|
|
|
NM_015346.4(ZFYVE26):c.4089C>T (p.Phe1363=)
|
rs200582127
|
|
NM_015346.4(ZFYVE26):c.4095G>A (p.Leu1365=)
|
rs1594913105
|
|
NM_015346.4(ZFYVE26):c.4104C>G (p.Ala1368=)
|
rs2039546240
|
|
NM_015346.4(ZFYVE26):c.4111C>T (p.Leu1371=)
|
|
|
NM_015346.4(ZFYVE26):c.4128C>A (p.Pro1376=)
|
rs2140222971
|
|
NM_015346.4(ZFYVE26):c.4137G>A (p.Gly1379=)
|
rs2140222951
|
|
NM_015346.4(ZFYVE26):c.4152G>A (p.Gly1384=)
|
rs1280213429
|
|
NM_015346.4(ZFYVE26):c.4161G>A (p.Leu1387=)
|
rs2039543987
|
|
NM_015346.4(ZFYVE26):c.4173C>T (p.Leu1391=)
|
rs2140222887
|
|
NM_015346.4(ZFYVE26):c.4197C>A (p.Thr1399=)
|
|
|
NM_015346.4(ZFYVE26):c.4221C>T (p.Pro1407=)
|
rs2140222812
|
|
NM_015346.4(ZFYVE26):c.4227C>T (p.Ala1409=)
|
|
|
NM_015346.4(ZFYVE26):c.4228C>T (p.Leu1410=)
|
rs1292729275
|
|
NM_015346.4(ZFYVE26):c.4233T>C (p.Asp1411=)
|
|
|
NM_015346.4(ZFYVE26):c.4236A>G (p.Val1412=)
|
rs1385088212
|
|
NM_015346.4(ZFYVE26):c.4261T>C (p.Leu1421=)
|
rs759824450
|
|
NM_015346.4(ZFYVE26):c.4263G>A (p.Leu1421=)
|
|
|
NM_015346.4(ZFYVE26):c.426G>A (p.Arg142=)
|
|
|
NM_015346.4(ZFYVE26):c.4287C>T (p.Ala1429=)
|
rs2140222673
|
|
NM_015346.4(ZFYVE26):c.429G>A (p.Glu143=)
|
rs1555400391
|
|
NM_015346.4(ZFYVE26):c.42G>A (p.Lys14=)
|
rs2140261050
|
|
NM_015346.4(ZFYVE26):c.4305G>C (p.Val1435=)
|
rs756076114
|
|
NM_015346.4(ZFYVE26):c.4312C>A (p.Arg1438=)
|
|
|
NM_015346.4(ZFYVE26):c.4329G>A (p.Leu1443=)
|
|
|
NM_015346.4(ZFYVE26):c.4338A>T (p.Ile1446=)
|
rs765803190
|
|
NM_015346.4(ZFYVE26):c.4341G>A (p.Lys1447=)
|
|
|
NM_015346.4(ZFYVE26):c.4350C>A (p.Val1450=)
|
rs1594912647
|
|
NM_015346.4(ZFYVE26):c.4350C>T (p.Val1450=)
|
rs1594912647
|
|
NM_015346.4(ZFYVE26):c.4353G>C (p.Leu1451=)
|
rs1201941552
|
|
NM_015346.4(ZFYVE26):c.4372+16T>A
|
|
|
NM_015346.4(ZFYVE26):c.4372+17G>C
|
|
|
NM_015346.4(ZFYVE26):c.4372+17G>T
|
|
|
NM_015346.4(ZFYVE26):c.4373-14T>C
|
|
|
NM_015346.4(ZFYVE26):c.4373-15T>C
|
|
|
NM_015346.4(ZFYVE26):c.4373-17T>C
|
|
|
NM_015346.4(ZFYVE26):c.4373-23_4373-19del
|
|
|
NM_015346.4(ZFYVE26):c.4373-5T>C
|
|
|
NM_015346.4(ZFYVE26):c.4373-8T>C
|
|
|
NM_015346.4(ZFYVE26):c.4383T>C (p.Gly1461=)
|
|
|
NM_015346.4(ZFYVE26):c.4389A>G (p.Gln1463=)
|
|
|
NM_015346.4(ZFYVE26):c.438T>G (p.Thr146=)
|
rs2140252542
|
|
NM_015346.4(ZFYVE26):c.4401C>A (p.Pro1467=)
|
rs138543433
|
|
NM_015346.4(ZFYVE26):c.4413A>G (p.Ala1471=)
|
rs2140220725
|
|
NM_015346.4(ZFYVE26):c.4428G>A (p.Arg1476=)
|
rs144721227
|
|
NM_015346.4(ZFYVE26):c.4431G>A (p.Leu1477=)
|
rs2140220699
|
|
NM_015346.4(ZFYVE26):c.4435C>T (p.Leu1479=)
|
rs2140220687
|
|
NM_015346.4(ZFYVE26):c.4437A>G (p.Leu1479=)
|
|
|
NM_015346.4(ZFYVE26):c.4458C>T (p.Pro1486=)
|
rs2140220635
|
|
NM_015346.4(ZFYVE26):c.4485C>G (p.Ala1495=)
|
rs2140220589
|
|
NM_015346.4(ZFYVE26):c.450C>T (p.Ser150=)
|
rs2140252520
|
|
NM_015346.4(ZFYVE26):c.4519C>T (p.Leu1507=)
|
rs761565288
|
|
NM_015346.4(ZFYVE26):c.4521A>G (p.Leu1507=)
|
|
|
NM_015346.4(ZFYVE26):c.4531C>T (p.Leu1511=)
|
rs1297799222
|
|
NM_015346.4(ZFYVE26):c.4539G>A (p.Arg1513=)
|
|
|
NM_015346.4(ZFYVE26):c.4545G>A (p.Leu1515=)
|
|
|
NM_015346.4(ZFYVE26):c.4569+10C>T
|
|
|
NM_015346.4(ZFYVE26):c.4569+12C>T
|
|
|
NM_015346.4(ZFYVE26):c.4569+13G>A
|
|
|
NM_015346.4(ZFYVE26):c.4569+14C>T
|
|
|
NM_015346.4(ZFYVE26):c.4569+15A>T
|
rs778011742
|
|
NM_015346.4(ZFYVE26):c.4569+19A>C
|
|
|
NM_015346.4(ZFYVE26):c.4569+2_4569+6dup
|
|
|
NM_015346.4(ZFYVE26):c.4569+8C>T
|
|
|
NM_015346.4(ZFYVE26):c.4570-15C>G
|
|
|
NM_015346.4(ZFYVE26):c.4573C>T (p.Leu1525=)
|
rs1400119280
|
|
NM_015346.4(ZFYVE26):c.4575G>A (p.Leu1525=)
|
|
|
NM_015346.4(ZFYVE26):c.4584G>A (p.Gln1528=)
|
|
|
NM_015346.4(ZFYVE26):c.4593A>G (p.Pro1531=)
|
rs748595362
|
|
NM_015346.4(ZFYVE26):c.4614C>T (p.Thr1538=)
|
rs2140218979
|
|
NM_015346.4(ZFYVE26):c.4629T>C (p.Cys1543=)
|
rs2140218942
|
|
NM_015346.4(ZFYVE26):c.4650C>T (p.Val1550=)
|
|
|
NM_015346.4(ZFYVE26):c.4671A>G (p.Ala1557=)
|
rs2039462410
|
|
NM_015346.4(ZFYVE26):c.4674+11C>T
|
|
|
NM_015346.4(ZFYVE26):c.4674+14G>T
|
|
|
NM_015346.4(ZFYVE26):c.4675-13T>C
|
|
|
NM_015346.4(ZFYVE26):c.4675-14G>A
|
|
|
NM_015346.4(ZFYVE26):c.4675-16G>A
|
|
|
NM_015346.4(ZFYVE26):c.4675-16G>T
|
|
|
NM_015346.4(ZFYVE26):c.4675-16GT[2]
|
|
|
NM_015346.4(ZFYVE26):c.4675-17T>C
|
rs2140215938
|
|
NM_015346.4(ZFYVE26):c.4675-20G>T
|
|
|
NM_015346.4(ZFYVE26):c.4680T>C (p.Tyr1560=)
|
rs752373172
|
|
NM_015346.4(ZFYVE26):c.4684C>T (p.Leu1562=)
|
rs767423347
|
|
NM_015346.4(ZFYVE26):c.4686G>A (p.Leu1562=)
|
rs998734784
|
|
NM_015346.4(ZFYVE26):c.4705C>T (p.Leu1569=)
|
|
|
NM_015346.4(ZFYVE26):c.4707G>A (p.Leu1569=)
|
rs1383995740
|
|
NM_015346.4(ZFYVE26):c.4728T>C (p.His1576=)
|
|
|
NM_015346.4(ZFYVE26):c.4737C>T (p.Ser1579=)
|
|
|
NM_015346.4(ZFYVE26):c.4758C>G (p.Leu1586=)
|
|
|
NM_015346.4(ZFYVE26):c.4773A>G (p.Arg1591=)
|
|
|
NM_015346.4(ZFYVE26):c.4782T>C (p.His1594=)
|
rs1269807196
|
|
NM_015346.4(ZFYVE26):c.4797+10C>T
|
rs2140215619
|
|
NM_015346.4(ZFYVE26):c.4797+12G>T
|
|
|
NM_015346.4(ZFYVE26):c.4798-15A>G
|
|
|
NM_015346.4(ZFYVE26):c.4798-17C>T
|
|
|
NM_015346.4(ZFYVE26):c.4798-7A>G
|
|
|
NM_015346.4(ZFYVE26):c.4798-8G>T
|
rs200338375
|
|
NM_015346.4(ZFYVE26):c.4798-9del
|
rs2140215092
|
|
NM_015346.4(ZFYVE26):c.4801C>T (p.Leu1601=)
|
rs139735970
|
|
NM_015346.4(ZFYVE26):c.4821C>A (p.Pro1607=)
|
|
|
NM_015346.4(ZFYVE26):c.4851C>A (p.Ser1617=)
|
rs1370134275
|
|
NM_015346.4(ZFYVE26):c.4866T>C (p.Thr1622=)
|
|
|
NM_015346.4(ZFYVE26):c.4870T>C (p.Leu1624=)
|
rs2140214930
|
|
NM_015346.4(ZFYVE26):c.4878T>A (p.Thr1626=)
|
rs1246614183
|
|
NM_015346.4(ZFYVE26):c.4884C>T (p.His1628=)
|
rs764247596
|
|
NM_015346.4(ZFYVE26):c.4893C>T (p.Ala1631=)
|
rs2140214874
|
|
NM_015346.4(ZFYVE26):c.4905C>T (p.Thr1635=)
|
|
|
NM_015346.4(ZFYVE26):c.4908C>A (p.Thr1636=)
|
rs2140214815
|
|
NM_015346.4(ZFYVE26):c.4911C>T (p.His1637=)
|
|
|
NM_015346.4(ZFYVE26):c.4914C>T (p.Phe1638=)
|
|
|
NM_015346.4(ZFYVE26):c.4917T>C (p.Tyr1639=)
|
|
|
NM_015346.4(ZFYVE26):c.4924C>T (p.Leu1642=)
|
|
|
NM_015346.4(ZFYVE26):c.4926G>A (p.Leu1642=)
|
rs2039379085
|
|
NM_015346.4(ZFYVE26):c.4941C>T (p.His1647=)
|
|
|
NM_015346.4(ZFYVE26):c.4957C>T (p.Leu1653=)
|
rs2140214728
|
|
NM_015346.4(ZFYVE26):c.4959G>T (p.Leu1653=)
|
|
|
NM_015346.4(ZFYVE26):c.495C>T (p.Pro165=)
|
|
|
NM_015346.4(ZFYVE26):c.4971C>T (p.Ser1657=)
|
|
|
NM_015346.4(ZFYVE26):c.4974+10C>T
|
rs2039377291
|
|
NM_015346.4(ZFYVE26):c.4974+11A>G
|
|
|
NM_015346.4(ZFYVE26):c.4974+12C>A
|
rs200969714
|
|
NM_015346.4(ZFYVE26):c.4974+13C>T
|
|
|
NM_015346.4(ZFYVE26):c.4974+14G>A
|
|
|
NM_015346.4(ZFYVE26):c.4974+8T>C
|
rs2140214688
|
|
NM_015346.4(ZFYVE26):c.4974+8_4974+52del
|
rs1566878435
|
|
NM_015346.4(ZFYVE26):c.4975-11C>T
|
|
|
NM_015346.4(ZFYVE26):c.4975-12C>T
|
|
|
NM_015346.4(ZFYVE26):c.4975-16T>C
|
|
|
NM_015346.4(ZFYVE26):c.4975-17A>C
|
|
|
NM_015346.4(ZFYVE26):c.4975-9C>T
|
|
|
NM_015346.4(ZFYVE26):c.4977T>C (p.Ile1659=)
|
|
|
NM_015346.4(ZFYVE26):c.4981C>T (p.Leu1661=)
|
rs2039336220
|
|
NM_015346.4(ZFYVE26):c.4983G>A (p.Leu1661=)
|
|
|
NM_015346.4(ZFYVE26):c.4987C>T (p.Leu1663=)
|
|
|
NM_015346.4(ZFYVE26):c.4989G>A (p.Leu1663=)
|
|
|
NM_015346.4(ZFYVE26):c.4995G>A (p.Glu1665=)
|
rs370349547
|
|
NM_015346.4(ZFYVE26):c.4998G>A (p.Gln1666=)
|
rs781434610
|
|
NM_015346.4(ZFYVE26):c.5001C>T (p.His1667=)
|
rs755177335
|
|
NM_015346.4(ZFYVE26):c.5034C>A (p.Pro1678=)
|
rs1347309634
|
|
NM_015346.4(ZFYVE26):c.5035C>T (p.Leu1679=)
|
|
|
NM_015346.4(ZFYVE26):c.5055G>A (p.Leu1685=)
|
rs1415834877
|
|
NM_015346.4(ZFYVE26):c.5073G>A (p.Val1691=)
|
rs2140212459
|
|
NM_015346.4(ZFYVE26):c.5085T>A (p.Thr1695=)
|
|
|
NM_015346.4(ZFYVE26):c.5088G>A (p.Val1696=)
|
rs2140212439
|
|
NM_015346.4(ZFYVE26):c.5106G>A (p.Gln1702=)
|
|
|
NM_015346.4(ZFYVE26):c.5109G>A (p.Gln1703=)
|
rs2039330703
|
|
NM_015346.4(ZFYVE26):c.5112G>C (p.Leu1704=)
|
|
|
NM_015346.4(ZFYVE26):c.5133C>T (p.Gly1711=)
|
|
|
NM_015346.4(ZFYVE26):c.5139T>C (p.Thr1713=)
|
|
|
NM_015346.4(ZFYVE26):c.5145C>T (p.Asp1715=)
|
rs371086321
|
|
NM_015346.4(ZFYVE26):c.5148G>A (p.Glu1716=)
|
rs2039329049
|
|
NM_015346.4(ZFYVE26):c.5157A>T (p.Ser1719=)
|
rs2039328888
|
|
NM_015346.4(ZFYVE26):c.5158C>T (p.Leu1720=)
|
|
|
NM_015346.4(ZFYVE26):c.5160G>A (p.Leu1720=)
|
|
|
NM_015346.4(ZFYVE26):c.5160G>C (p.Leu1720=)
|
|
|
NM_015346.4(ZFYVE26):c.5178G>A (p.Glu1726=)
|
rs1594904968
|
|
NM_015346.4(ZFYVE26):c.5205G>A (p.Gln1735=)
|
|
|
NM_015346.4(ZFYVE26):c.5208G>A (p.Arg1736=)
|
|
|
NM_015346.4(ZFYVE26):c.5216G>T (p.Arg1739Leu)
|
rs201566214
|
|
NM_015346.4(ZFYVE26):c.5221+11G>C
|
|
|
NM_015346.4(ZFYVE26):c.5221+12C>A
|
|
|
NM_015346.4(ZFYVE26):c.5221+14T>C
|
|
|
NM_015346.4(ZFYVE26):c.5221+8C>G
|
|
|
NM_015346.4(ZFYVE26):c.5222-10C>T
|
|
|
NM_015346.4(ZFYVE26):c.5222-10CT[2]
|
rs2140211210
|
|
NM_015346.4(ZFYVE26):c.5222-11C>T
|
|
|
NM_015346.4(ZFYVE26):c.5222-8C>G
|
rs765966529
|
|
NM_015346.4(ZFYVE26):c.5241A>G (p.Gln1747=)
|
|
|
NM_015346.4(ZFYVE26):c.5250C>T (p.Val1750=)
|
|
|
NM_015346.4(ZFYVE26):c.5268C>G (p.Pro1756=)
|
rs757534059
|
|
NM_015346.4(ZFYVE26):c.5274C>T (p.Thr1758=)
|
|
|
NM_015346.4(ZFYVE26):c.5277C>T (p.Leu1759=)
|
rs1445950496
|
|
NM_015346.4(ZFYVE26):c.5280T>C (p.Pro1760=)
|
rs2140211091
|
|
NM_015346.4(ZFYVE26):c.528T>C (p.Leu176=)
|
rs2040215930
|
|
NM_015346.4(ZFYVE26):c.5292A>G (p.Ser1764=)
|
rs2140211078
|
|
NM_015346.4(ZFYVE26):c.5304T>G (p.Ser1768=)
|
|
|
NM_015346.4(ZFYVE26):c.5313T>C (p.Ala1771=)
|
rs2140211044
|
|
NM_015346.4(ZFYVE26):c.531G>A (p.Glu177=)
|
|
|
NM_015346.4(ZFYVE26):c.5320+10G>A
|
rs2140211014
|
|
NM_015346.4(ZFYVE26):c.5320+18T>G
|
rs2039303079
|
|
NM_015346.4(ZFYVE26):c.5320+20A>T
|
|
|
NM_015346.4(ZFYVE26):c.5321-20C>T
|
|
|
NM_015346.4(ZFYVE26):c.5321-5C>T
|
rs2039230277
|
|
NM_015346.4(ZFYVE26):c.5321-9G>T
|
rs1310234849
|
|
NM_015346.4(ZFYVE26):c.5328C>G (p.Ser1776=)
|
|
|
NM_015346.4(ZFYVE26):c.5337T>C (p.His1779=)
|
rs2039229226
|
|
NM_015346.4(ZFYVE26):c.5343T>C (p.Pro1781=)
|
rs753507251
|
|
NM_015346.4(ZFYVE26):c.5346T>C (p.Ser1782=)
|
|
|
NM_015346.4(ZFYVE26):c.534G>A (p.Glu178=)
|
|
|
NM_015346.4(ZFYVE26):c.5373C>T (p.Thr1791=)
|
rs2039227977
|
|
NM_015346.4(ZFYVE26):c.5388A>G (p.Glu1796=)
|
rs2140207503
|
|
NM_015346.4(ZFYVE26):c.5394G>A (p.Val1798=)
|
rs1594900989
|
|
NM_015346.4(ZFYVE26):c.5403G>A (p.Ala1801=)
|
rs369952104
|
|
NM_015346.4(ZFYVE26):c.5403G>C (p.Ala1801=)
|
rs369952104
|
|
NM_015346.4(ZFYVE26):c.5412T>C (p.Pro1804=)
|
rs2140207447
|
|
NM_015346.4(ZFYVE26):c.5418G>A (p.Arg1806=)
|
|
|
NM_015346.4(ZFYVE26):c.5421C>T (p.His1807=)
|
rs2140207428
|
|
NM_015346.4(ZFYVE26):c.5472G>A (p.Glu1824=)
|
|
|
NM_015346.4(ZFYVE26):c.5481C>G (p.Thr1827=)
|
|
|
NM_015346.4(ZFYVE26):c.5484+8G>A
|
rs2140207258
|
|
NM_015346.4(ZFYVE26):c.5484+9del
|
rs2140207255
|
|
NM_015346.4(ZFYVE26):c.5485-10C>T
|
|
|
NM_015346.4(ZFYVE26):c.5485-11G>T
|
|
|
NM_015346.4(ZFYVE26):c.5485-13T>C
|
|
|
NM_015346.4(ZFYVE26):c.5485-16T>G
|
|
|
NM_015346.4(ZFYVE26):c.5485-18C>T
|
|
|
NM_015346.4(ZFYVE26):c.5485-18_5485-16del
|
|
|
NM_015346.4(ZFYVE26):c.5485-9A>G
|
rs1322405066
|
|
NM_015346.4(ZFYVE26):c.5490C>T (p.Asn1830=)
|
|
|
NM_015346.4(ZFYVE26):c.54A>G (p.Gly18=)
|
|
|
NM_015346.4(ZFYVE26):c.5502T>C (p.His1834=)
|
|
|
NM_015346.4(ZFYVE26):c.5514T>C (p.Cys1838=)
|
|
|
NM_015346.4(ZFYVE26):c.5526G>A (p.Val1842=)
|
|
|
NM_015346.4(ZFYVE26):c.5526G>T (p.Val1842=)
|
|
|
NM_015346.4(ZFYVE26):c.552C>G (p.Leu184=)
|
|
|
NM_015346.4(ZFYVE26):c.5538C>T (p.Cys1846=)
|
|
|
NM_015346.4(ZFYVE26):c.5565C>A (p.Gly1855=)
|
rs2140203977
|
|
NM_015346.4(ZFYVE26):c.5571A>G (p.Arg1857=)
|
|
|
NM_015346.4(ZFYVE26):c.5577C>T (p.Asn1859=)
|
|
|
NM_015346.4(ZFYVE26):c.5610C>T (p.Tyr1870=)
|
rs2140203904
|
|
NM_015346.4(ZFYVE26):c.5621+10del
|
rs1476329218
|
|
NM_015346.4(ZFYVE26):c.5621+19G>A
|
|
|
NM_015346.4(ZFYVE26):c.5621+20G>A
|
|
|
NM_015346.4(ZFYVE26):c.5621+9C>T
|
|
|
NM_015346.4(ZFYVE26):c.5622-10C>G
|
|
|
NM_015346.4(ZFYVE26):c.5622-10C>T
|
|
|
NM_015346.4(ZFYVE26):c.5622-10_5622-9del
|
rs768978705
|
|
NM_015346.4(ZFYVE26):c.5622-15T>C
|
rs2140202504
|
|
NM_015346.4(ZFYVE26):c.5622-16C>A
|
|
|
NM_015346.4(ZFYVE26):c.5622-8G>C
|
rs768215819
|
|
NM_015346.4(ZFYVE26):c.5625A>G (p.Val1875=)
|
|
|
NM_015346.4(ZFYVE26):c.5628A>G (p.Pro1876=)
|
rs2140202467
|
|
NM_015346.4(ZFYVE26):c.5634G>A (p.Glu1878=)
|
|
|
NM_015346.4(ZFYVE26):c.5653+13C>A
|
|
|
NM_015346.4(ZFYVE26):c.5653+15C>T
|
|
|
NM_015346.4(ZFYVE26):c.5653+18_5653+24del
|
|
|
NM_015346.4(ZFYVE26):c.5653+7C>T
|
|
|
NM_015346.4(ZFYVE26):c.5654-10C>T
|
rs183559101
|
|
NM_015346.4(ZFYVE26):c.5654-14A>G
|
|
|
NM_015346.4(ZFYVE26):c.5654-16G>A
|
|
|
NM_015346.4(ZFYVE26):c.5654-19A>G
|
|
|
NM_015346.4(ZFYVE26):c.5654-5C>G
|
|
|
NM_015346.4(ZFYVE26):c.5664C>T (p.Ser1888=)
|
rs2140201479
|
|
NM_015346.4(ZFYVE26):c.567G>A (p.Leu189=)
|
|
|
NM_015346.4(ZFYVE26):c.5682T>C (p.Pro1894=)
|
rs756277394
|
|
NM_015346.4(ZFYVE26):c.5685A>G (p.Pro1895=)
|
|
|
NM_015346.4(ZFYVE26):c.5685A>T (p.Pro1895=)
|
rs1176271187
|
|
NM_015346.4(ZFYVE26):c.5688C>T (p.Tyr1896=)
|
rs2140201384
|
|
NM_015346.4(ZFYVE26):c.5706C>T (p.Val1902=)
|
rs1251746638
|
|
NM_015346.4(ZFYVE26):c.570G>A (p.Gln190=)
|
rs2140252389
|
|
NM_015346.4(ZFYVE26):c.5715A>C (p.Ala1905=)
|
rs952424390
|
|
NM_015346.4(ZFYVE26):c.5721G>A (p.Glu1907=)
|
|
|
NM_015346.4(ZFYVE26):c.5724G>A (p.Val1908=)
|
|
|
NM_015346.4(ZFYVE26):c.5727A>G (p.Glu1909=)
|
|
|
NM_015346.4(ZFYVE26):c.5736G>A (p.Leu1912=)
|
|
|
NM_015346.4(ZFYVE26):c.573T>C (p.Asn191=)
|
|
|
NM_015346.4(ZFYVE26):c.5745A>G (p.Lys1915=)
|
|
|
NM_015346.4(ZFYVE26):c.5748G>A (p.Glu1916=)
|
|
|
NM_015346.4(ZFYVE26):c.5760G>A (p.Glu1920=)
|
|
|
NM_015346.4(ZFYVE26):c.5763G>T (p.Leu1921=)
|
|
|
NM_015346.4(ZFYVE26):c.5766G>C (p.Val1922=)
|
rs545330467
|
|
NM_015346.4(ZFYVE26):c.5790+10A>G
|
rs2140201158
|
|
NM_015346.4(ZFYVE26):c.5790+11T>A
|
|
|
NM_015346.4(ZFYVE26):c.5790+12A>G
|
|
|
NM_015346.4(ZFYVE26):c.5790+17G>A
|
|
|
NM_015346.4(ZFYVE26):c.5790+8C>T
|
|
|
NM_015346.4(ZFYVE26):c.5791-12C>T
|
|
|
NM_015346.4(ZFYVE26):c.5791-19C>T
|
|
|
NM_015346.4(ZFYVE26):c.5796C>T (p.Pro1932=)
|
rs2039062513
|
|
NM_015346.4(ZFYVE26):c.5802C>T (p.Ala1934=)
|
|
|
NM_015346.4(ZFYVE26):c.582G>A (p.Val194=)
|
|
|
NM_015346.4(ZFYVE26):c.5850T>C (p.Cys1950=)
|
|
|
NM_015346.4(ZFYVE26):c.5856C>T (p.His1952=)
|
|
|
NM_015346.4(ZFYVE26):c.5868G>A (p.Glu1956=)
|
|
|
NM_015346.4(ZFYVE26):c.5871C>T (p.His1957=)
|
|
|
NM_015346.4(ZFYVE26):c.5880G>A (p.Arg1960=)
|
rs751183425
|
|
NM_015346.4(ZFYVE26):c.5883C>G (p.Leu1961=)
|
|
|
NM_015346.4(ZFYVE26):c.5892C>A (p.Gly1964=)
|
rs2140199446
|
|
NM_015346.4(ZFYVE26):c.5895C>T (p.Leu1965=)
|
rs762608099
|
|
NM_015346.4(ZFYVE26):c.5910G>A (p.Val1970=)
|
|
|
NM_015346.4(ZFYVE26):c.5919G>A (p.Gly1973=)
|
rs1184250373
|
|
NM_015346.4(ZFYVE26):c.5925C>A (p.Leu1975=)
|
rs775830817
|
|
NM_015346.4(ZFYVE26):c.5925C>T (p.Leu1975=)
|
|
|
NM_015346.4(ZFYVE26):c.5940G>A (p.Lys1980=)
|
rs1234092198
|
|
NM_015346.4(ZFYVE26):c.5949G>A (p.Leu1983=)
|
|
|
NM_015346.4(ZFYVE26):c.5973C>G (p.Val1991=)
|
|
|
NM_015346.4(ZFYVE26):c.597G>A (p.Lys199=)
|
rs864622623
|
|
NM_015346.4(ZFYVE26):c.5982C>A (p.Gly1994=)
|
|
|
NM_015346.4(ZFYVE26):c.6011+12T>A
|
|
|
NM_015346.4(ZFYVE26):c.6011+12T>C
|
|
|
NM_015346.4(ZFYVE26):c.6011+14G>C
|
|
|
NM_015346.4(ZFYVE26):c.6011+8G>A
|
rs552742329
|
|
NM_015346.4(ZFYVE26):c.6012-17C>T
|
|
|
NM_015346.4(ZFYVE26):c.6012-18C>T
|
|
|
NM_015346.4(ZFYVE26):c.6012-20T>A
|
|
|
NM_015346.4(ZFYVE26):c.6012-20T>C
|
|
|
NM_015346.4(ZFYVE26):c.6012-6T>G
|
|
|
NM_015346.4(ZFYVE26):c.6015C>T (p.Tyr2005=)
|
|
|
NM_015346.4(ZFYVE26):c.6024G>A (p.Lys2008=)
|
|
|
NM_015346.4(ZFYVE26):c.6027A>G (p.Val2009=)
|
|
|
NM_015346.4(ZFYVE26):c.6030T>C (p.Asp2010=)
|
rs1449335899
|
|
NM_015346.4(ZFYVE26):c.6072A>G (p.Pro2024=)
|
|
|
NM_015346.4(ZFYVE26):c.6087C>A (p.Ile2029=)
|
rs2140194744
|
|
NM_015346.4(ZFYVE26):c.6087C>T (p.Ile2029=)
|
|
|
NM_015346.4(ZFYVE26):c.609T>C (p.Ala203=)
|
rs1295871755
|
|
NM_015346.4(ZFYVE26):c.60C>T (p.Phe20=)
|
rs1204242252
|
|
NM_015346.4(ZFYVE26):c.6108C>G (p.Thr2036=)
|
|
|
NM_015346.4(ZFYVE26):c.6108C>T (p.Thr2036=)
|
|
|
NM_015346.4(ZFYVE26):c.610T>C (p.Leu204=)
|
|
|
NM_015346.4(ZFYVE26):c.612G>A (p.Leu204=)
|
rs2140252317
|
|
NM_015346.4(ZFYVE26):c.6159+17G>A
|
|
|
NM_015346.4(ZFYVE26):c.6159+6ACAAAG[2]
|
rs753320665
|
|
NM_015346.4(ZFYVE26):c.6159+7C>G
|
rs202096428
|
|
NM_015346.4(ZFYVE26):c.6160-16G>T
|
|
|
NM_015346.4(ZFYVE26):c.6160-5C>T
|
rs1594892467
|
|
NM_015346.4(ZFYVE26):c.6160-9T>G
|
rs2140194344
|
|
NM_015346.4(ZFYVE26):c.6174T>C (p.Thr2058=)
|
|
|
NM_015346.4(ZFYVE26):c.6204T>C (p.Ala2068=)
|
|
|
NM_015346.4(ZFYVE26):c.6216C>G (p.Ala2072=)
|
|
|
NM_015346.4(ZFYVE26):c.621T>A (p.Pro207=)
|
rs144303642
|
|
NM_015346.4(ZFYVE26):c.6228C>T (p.Ala2076=)
|
rs762113501
|
|
NM_015346.4(ZFYVE26):c.6231G>A (p.Gly2077=)
|
rs2140194176
|
|
NM_015346.4(ZFYVE26):c.6234C>T (p.Asn2078=)
|
rs2038955123
|
|
NM_015346.4(ZFYVE26):c.6246A>G (p.Ala2082=)
|
|
|
NM_015346.4(ZFYVE26):c.6247C>A (p.Arg2083=)
|
|
|
NM_015346.4(ZFYVE26):c.6264C>T (p.Arg2088=)
|
rs2140194116
|
|
NM_015346.4(ZFYVE26):c.6273G>A (p.Lys2091=)
|
rs2140194105
|
|
NM_015346.4(ZFYVE26):c.627G>A (p.Ser209=)
|
|
|
NM_015346.4(ZFYVE26):c.6303T>C (p.His2101=)
|
|
|
NM_015346.4(ZFYVE26):c.630G>C (p.Val210=)
|
|
|
NM_015346.4(ZFYVE26):c.630G>T (p.Val210=)
|
rs769763847
|
|
NM_015346.4(ZFYVE26):c.6312G>A (p.Arg2104=)
|
|
|
NM_015346.4(ZFYVE26):c.6315G>C (p.Leu2105=)
|
|
|
NM_015346.4(ZFYVE26):c.6321G>A (p.Gln2107=)
|
|
|
NM_015346.4(ZFYVE26):c.6337C>T (p.Leu2113=)
|
rs1321167326
|
|
NM_015346.4(ZFYVE26):c.6339A>C (p.Leu2113=)
|
rs764363798
|
|
NM_015346.4(ZFYVE26):c.633C>T (p.Pro211=)
|
rs2140252265
|
|
NM_015346.4(ZFYVE26):c.6345C>A (p.Ser2115=)
|
rs201210376
|
|
NM_015346.4(ZFYVE26):c.6348A>C (p.Thr2116=)
|
|
|
NM_015346.4(ZFYVE26):c.6354G>A (p.Arg2118=)
|
rs943216054
|
|
NM_015346.4(ZFYVE26):c.6357C>T (p.Pro2119=)
|
|
|
NM_015346.4(ZFYVE26):c.6360T>C (p.Phe2120=)
|
|
|
NM_015346.4(ZFYVE26):c.6363A>G (p.Val2121=)
|
|
|
NM_015346.4(ZFYVE26):c.6363A>T (p.Val2121=)
|
|
|
NM_015346.4(ZFYVE26):c.6366C>G (p.Ser2122=)
|
rs2140193926
|
|
NM_015346.4(ZFYVE26):c.6369+11G>A
|
|
|
NM_015346.4(ZFYVE26):c.6369+12G>T
|
|
|
NM_015346.4(ZFYVE26):c.6369+16G>A
|
|
|
NM_015346.4(ZFYVE26):c.6369+17A>G
|
|
|
NM_015346.4(ZFYVE26):c.6369+19G>T
|
|
|
NM_015346.4(ZFYVE26):c.6369+20A>G
|
|
|
NM_015346.4(ZFYVE26):c.6369+7G>T
|
|
|
NM_015346.4(ZFYVE26):c.6369+8C>T
|
|
|
NM_015346.4(ZFYVE26):c.6369+9A>G
|
|
|
NM_015346.4(ZFYVE26):c.6370-10G>A
|
|
|
NM_015346.4(ZFYVE26):c.6370-13C>T
|
|
|
NM_015346.4(ZFYVE26):c.6370-17G>A
|
|
|
NM_015346.4(ZFYVE26):c.6370-17G>C
|
|
|
NM_015346.4(ZFYVE26):c.6370-18C>T
|
|
|
NM_015346.4(ZFYVE26):c.6370-20C>G
|
|
|
NM_015346.4(ZFYVE26):c.6370-20C>T
|
|
|
NM_015346.4(ZFYVE26):c.6370-25TC[2]
|
rs751474117
|
|
NM_015346.4(ZFYVE26):c.6370-7C>A
|
|
|
NM_015346.4(ZFYVE26):c.6370-7C>T
|
|
|
NM_015346.4(ZFYVE26):c.6370-8G>A
|
|
|
NM_015346.4(ZFYVE26):c.63C>T (p.Cys21=)
|
|
|
NM_015346.4(ZFYVE26):c.6411T>C (p.Ala2137=)
|
rs2140192916
|
|
NM_015346.4(ZFYVE26):c.6414C>G (p.Thr2138=)
|
rs2038929960
|
|
NM_015346.4(ZFYVE26):c.6423G>T (p.Thr2141=)
|
|
|
NM_015346.4(ZFYVE26):c.6435T>C (p.Ser2145=)
|
|
|
NM_015346.4(ZFYVE26):c.6441A>C (p.Ala2147=)
|
|
|
NM_015346.4(ZFYVE26):c.6450T>C (p.Pro2150=)
|
|
|
NM_015346.4(ZFYVE26):c.645C>A (p.Val215=)
|
rs768758681
|
|
NM_015346.4(ZFYVE26):c.645C>T (p.Val215=)
|
rs768758681
|
|
NM_015346.4(ZFYVE26):c.6495C>T (p.Phe2165=)
|
|
|
NM_015346.4(ZFYVE26):c.6498C>T (p.Tyr2166=)
|
|
|
NM_015346.4(ZFYVE26):c.6499C>T (p.Leu2167=)
|
rs2140192777
|
|
NM_015346.4(ZFYVE26):c.6501G>A (p.Leu2167=)
|
rs2140192767
|
|
NM_015346.4(ZFYVE26):c.6520C>T (p.Leu2174=)
|
|
|
NM_015346.4(ZFYVE26):c.6522G>T (p.Leu2174=)
|
|
|
NM_015346.4(ZFYVE26):c.6525C>T (p.Ala2175=)
|
|
|
NM_015346.4(ZFYVE26):c.6540C>T (p.Tyr2180=)
|
rs142224979
|
|
NM_015346.4(ZFYVE26):c.6549C>T (p.His2183=)
|
|
|
NM_015346.4(ZFYVE26):c.6570T>C (p.Leu2190=)
|
rs1566867638
|
|
NM_015346.4(ZFYVE26):c.6571C>T (p.Leu2191=)
|
|
|
NM_015346.4(ZFYVE26):c.6573G>A (p.Leu2191=)
|
|
|
NM_015346.4(ZFYVE26):c.6573G>T (p.Leu2191=)
|
|
|
NM_015346.4(ZFYVE26):c.6588+12A>T
|
|
|
NM_015346.4(ZFYVE26):c.6588+15C>T
|
|
|
NM_015346.4(ZFYVE26):c.6588+8A>G
|
|
|
NM_015346.4(ZFYVE26):c.6588+9T>C
|
|
|
NM_015346.4(ZFYVE26):c.6589-15C>A
|
|
|
NM_015346.4(ZFYVE26):c.6589-17G>T
|
|
|
NM_015346.4(ZFYVE26):c.6589-3del
|
rs1317757501
|
|
NM_015346.4(ZFYVE26):c.6589-4C>A
|
rs2140185599
|
|
NM_015346.4(ZFYVE26):c.6589-9C>T
|
|
|
NM_015346.4(ZFYVE26):c.6589-9del
|
rs2140185603
|
|
NM_015346.4(ZFYVE26):c.6591G>A (p.Glu2197=)
|
|
|
NM_015346.4(ZFYVE26):c.6600A>G (p.Pro2200=)
|
rs750354943
|
|
NM_015346.4(ZFYVE26):c.6603A>G (p.Glu2201=)
|
rs2140185567
|
|
NM_015346.4(ZFYVE26):c.6618C>G (p.Gly2206=)
|
rs2038772797
|
|
NM_015346.4(ZFYVE26):c.6649C>T (p.Leu2217=)
|
rs149104493
|
|
NM_015346.4(ZFYVE26):c.6672A>C (p.Leu2224=)
|
|
|
NM_015346.4(ZFYVE26):c.6672A>G (p.Leu2224=)
|
rs2038770810
|
|
NM_015346.4(ZFYVE26):c.6675A>G (p.Glu2225=)
|
|
|
NM_015346.4(ZFYVE26):c.6684T>C (p.Asp2228=)
|
|
|
NM_015346.4(ZFYVE26):c.6690C>T (p.Thr2230=)
|
|
|
NM_015346.4(ZFYVE26):c.6696G>A (p.Glu2232=)
|
|
|
NM_015346.4(ZFYVE26):c.6711C>T (p.Tyr2237=)
|
rs2140185423
|
|
NM_015346.4(ZFYVE26):c.6717T>C (p.Ile2239=)
|
|
|
NM_015346.4(ZFYVE26):c.6720T>C (p.Ala2240=)
|
|
|
NM_015346.4(ZFYVE26):c.6750C>T (p.Tyr2250=)
|
|
|
NM_015346.4(ZFYVE26):c.6756C>T (p.His2252=)
|
|
|
NM_015346.4(ZFYVE26):c.6759T>A (p.Ile2253=)
|
|
|
NM_015346.4(ZFYVE26):c.675G>A (p.Leu225=)
|
|
|
NM_015346.4(ZFYVE26):c.6786+17C>T
|
rs1208263522
|
|
NM_015346.4(ZFYVE26):c.6786+7G>T
|
rs2140185324
|
|
NM_015346.4(ZFYVE26):c.6786+8C>T
|
|
|
NM_015346.4(ZFYVE26):c.6787-10C>T
|
rs773751383
|
|
NM_015346.4(ZFYVE26):c.6787-12T>G
|
|
|
NM_015346.4(ZFYVE26):c.6787-16del
|
|
|
NM_015346.4(ZFYVE26):c.6787-19A>G
|
|
|
NM_015346.4(ZFYVE26):c.6787-20C>G
|
|
|
NM_015346.4(ZFYVE26):c.6787-4C>T
|
|
|
NM_015346.4(ZFYVE26):c.6787-7C>T
|
|
|
NM_015346.4(ZFYVE26):c.6787-8T>A
|
rs1488472618
|
|
NM_015346.4(ZFYVE26):c.6796C>A (p.Arg2266=)
|
|
|
NM_015346.4(ZFYVE26):c.6810C>T (p.Thr2270=)
|
rs1594885252
|
|
NM_015346.4(ZFYVE26):c.6825C>T (p.Phe2275=)
|
|
|
NM_015346.4(ZFYVE26):c.6840G>A (p.Lys2280=)
|
|
|
NM_015346.4(ZFYVE26):c.684C>G (p.Pro228=)
|
|
|
NM_015346.4(ZFYVE26):c.6852A>G (p.Glu2284=)
|
rs371472465
|
|
NM_015346.4(ZFYVE26):c.6853C>T (p.Leu2285=)
|
|
|
NM_015346.4(ZFYVE26):c.6867C>G (p.Leu2289=)
|
rs2140184437
|
|
NM_015346.4(ZFYVE26):c.6867C>T (p.Leu2289=)
|
|
|
NM_015346.4(ZFYVE26):c.6891C>T (p.Asp2297=)
|
|
|
NM_015346.4(ZFYVE26):c.6897G>A (p.Leu2299=)
|
rs2140184412
|
|
NM_015346.4(ZFYVE26):c.6906C>T (p.Tyr2302=)
|
rs2140184390
|
|
NM_015346.4(ZFYVE26):c.6909C>G (p.Leu2303=)
|
|
|
NM_015346.4(ZFYVE26):c.6912A>G (p.Gln2304=)
|
|
|
NM_015346.4(ZFYVE26):c.6921C>A (p.Ser2307=)
|
rs35917338
|
|
NM_015346.4(ZFYVE26):c.6945C>T (p.Thr2315=)
|
|
|
NM_015346.4(ZFYVE26):c.6948A>G (p.Thr2316=)
|
|
|
NM_015346.4(ZFYVE26):c.6969T>A (p.Thr2323=)
|
rs1174882204
|
|
NM_015346.4(ZFYVE26):c.6969T>C (p.Thr2323=)
|
rs1174882204
|
|
NM_015346.4(ZFYVE26):c.6978T>C (p.Asp2326=)
|
|
|
NM_015346.4(ZFYVE26):c.6986+11G>A
|
|
|
NM_015346.4(ZFYVE26):c.6986+11G>T
|
|
|
NM_015346.4(ZFYVE26):c.6986+14C>T
|
|
|
NM_015346.4(ZFYVE26):c.6986+15A>C
|
rs2038742066
|
|
NM_015346.4(ZFYVE26):c.6986+19G>A
|
|
|
NM_015346.4(ZFYVE26):c.6986+7G>A
|
|
|
NM_015346.4(ZFYVE26):c.6987-10G>A
|
rs2140183238
|
|
NM_015346.4(ZFYVE26):c.6987-17A>G
|
|
|
NM_015346.4(ZFYVE26):c.6987-18C>T
|
|
|
NM_015346.4(ZFYVE26):c.6987-19G>A
|
|
|
NM_015346.4(ZFYVE26):c.6987-5_6987-3del
|
rs2140183228
|
|
NM_015346.4(ZFYVE26):c.6996C>T (p.Asn2332=)
|
rs2140183214
|
|
NM_015346.4(ZFYVE26):c.699G>A (p.Gly233=)
|
|
|
NM_015346.4(ZFYVE26):c.7006C>T (p.Leu2336=)
|
rs2140183207
|
|
NM_015346.4(ZFYVE26):c.7023C>T (p.Thr2341=)
|
rs2140183180
|
|
NM_015346.4(ZFYVE26):c.7026G>A (p.Arg2342=)
|
|
|
NM_015346.4(ZFYVE26):c.7068C>G (p.Thr2356=)
|
rs2140183093
|
|
NM_015346.4(ZFYVE26):c.706T>C (p.Leu236=)
|
rs749763709
|
|
NM_015346.4(ZFYVE26):c.708G>A (p.Leu236=)
|
rs1453400592
|
|
NM_015346.4(ZFYVE26):c.7098T>C (p.Asn2366=)
|
rs2140183042
|
|
NM_015346.4(ZFYVE26):c.7128+10G>A
|
rs2140182981
|
|
NM_015346.4(ZFYVE26):c.7128+11C>T
|
|
|
NM_015346.4(ZFYVE26):c.7128+18G>C
|
|
|
NM_015346.4(ZFYVE26):c.7128+7G>A
|
rs2038714864
|
|
NM_015346.4(ZFYVE26):c.7128+9A>G
|
rs2140182986
|
|
NM_015346.4(ZFYVE26):c.7128+9del
|
rs775734318
|
|
NM_015346.4(ZFYVE26):c.7129-13C>G
|
|
|
NM_015346.4(ZFYVE26):c.7129-20T>C
|
|
|
NM_015346.4(ZFYVE26):c.7129-8C>A
|
rs530282754
|
|
NM_015346.4(ZFYVE26):c.7129-9C>T
|
rs2140182683
|
|
NM_015346.4(ZFYVE26):c.7143G>A (p.Gly2381=)
|
rs1555393351
|
|
NM_015346.4(ZFYVE26):c.7149T>C (p.Asn2383=)
|
rs2140182629
|
|
NM_015346.4(ZFYVE26):c.7152A>G (p.Val2384=)
|
|
|
NM_015346.4(ZFYVE26):c.715C>T (p.Leu239=)
|
|
|
NM_015346.4(ZFYVE26):c.7176C>T (p.Phe2392=)
|
|
|
NM_015346.4(ZFYVE26):c.717G>C (p.Leu239=)
|
|
|
NM_015346.4(ZFYVE26):c.7188+10G>A
|
rs551275325
|
|
NM_015346.4(ZFYVE26):c.7188+18C>G
|
|
|
NM_015346.4(ZFYVE26):c.7188+20A>G
|
|
|
NM_015346.4(ZFYVE26):c.7189-15_7189-13del
|
|
|
NM_015346.4(ZFYVE26):c.7189-16T>C
|
|
|
NM_015346.4(ZFYVE26):c.7189-17G>A
|
|
|
NM_015346.4(ZFYVE26):c.7189-20C>T
|
|
|
NM_015346.4(ZFYVE26):c.7189-4C>T
|
|
|
NM_015346.4(ZFYVE26):c.7189-8T>C
|
rs2140181265
|
|
NM_015346.4(ZFYVE26):c.7189-9C>T
|
|
|
NM_015346.4(ZFYVE26):c.7194C>T (p.Phe2398=)
|
|
|
NM_015346.4(ZFYVE26):c.7197G>A (p.Gln2399=)
|
|
|
NM_015346.4(ZFYVE26):c.7203T>C (p.Asp2401=)
|
rs1298744574
|
|
NM_015346.4(ZFYVE26):c.7218C>T (p.Tyr2406=)
|
|
|
NM_015346.4(ZFYVE26):c.7237T>C (p.Leu2413=)
|
rs1015804374
|
|
NM_015346.4(ZFYVE26):c.723G>A (p.Glu241=)
|
|
|
NM_015346.4(ZFYVE26):c.7257C>T (p.Tyr2419=)
|
rs2038674088
|
|
NM_015346.4(ZFYVE26):c.7269G>A (p.Gln2423=)
|
|
|
NM_015346.4(ZFYVE26):c.726A>G (p.Glu242=)
|
rs779486028
|
|
NM_015346.4(ZFYVE26):c.7275G>A (p.Leu2425=)
|
|
|
NM_015346.4(ZFYVE26):c.7278C>T (p.Leu2426=)
|
|
|
NM_015346.4(ZFYVE26):c.7296A>G (p.Ser2432=)
|
rs2140181125
|
|
NM_015346.4(ZFYVE26):c.7305A>T (p.Ala2435=)
|
|
|
NM_015346.4(ZFYVE26):c.7308C>T (p.Ala2436=)
|
rs2140181108
|
|
NM_015346.4(ZFYVE26):c.7326C>A (p.Thr2442=)
|
|
|
NM_015346.4(ZFYVE26):c.7326C>T (p.Thr2442=)
|
rs2140181083
|
|
NM_015346.4(ZFYVE26):c.7338C>T (p.Asn2446=)
|
|
|
NM_015346.4(ZFYVE26):c.7342C>T (p.Leu2448=)
|
|
|
NM_015346.4(ZFYVE26):c.7350G>A (p.Ala2450=)
|
rs370775301
|
|
NM_015346.4(ZFYVE26):c.7350G>T (p.Ala2450=)
|
rs370775301
|
|
NM_015346.4(ZFYVE26):c.735G>A (p.Glu245=)
|
rs1211630732
|
|
NM_015346.4(ZFYVE26):c.7368C>T (p.Pro2456=)
|
|
|
NM_015346.4(ZFYVE26):c.7371+10C>T
|
rs2140180981
|
|
NM_015346.4(ZFYVE26):c.7371+10del
|
rs2038669898
|
|
NM_015346.4(ZFYVE26):c.7371+15G>C
|
|
|
NM_015346.4(ZFYVE26):c.7371+17A>C
|
|
|
NM_015346.4(ZFYVE26):c.7371+17A>G
|
|
|
NM_015346.4(ZFYVE26):c.7371+9C>A
|
rs2140180990
|
|
NM_015346.4(ZFYVE26):c.7372-11G>C
|
|
|
NM_015346.4(ZFYVE26):c.7372-16T>C
|
|
|
NM_015346.4(ZFYVE26):c.7372-17G>A
|
|
|
NM_015346.4(ZFYVE26):c.7372-18T>C
|
|
|
NM_015346.4(ZFYVE26):c.7372-7T>C
|
|
|
NM_015346.4(ZFYVE26):c.7372-7T>G
|
|
|
NM_015346.4(ZFYVE26):c.7372-8C>G
|
rs1320337326
|
|
NM_015346.4(ZFYVE26):c.7372-8C>T
|
|
|
NM_015346.4(ZFYVE26):c.7372-9T>C
|
rs2140179372
|
|
NM_015346.4(ZFYVE26):c.7389C>A (p.Ile2463=)
|
|
|
NM_015346.4(ZFYVE26):c.73C>A (p.Arg25=)
|
rs1382306389
|
|
NM_015346.4(ZFYVE26):c.7404T>C (p.Asn2468=)
|
rs2140179292
|
|
NM_015346.4(ZFYVE26):c.7416+7G>T
|
|
|
NM_015346.4(ZFYVE26):c.7417-10T>C
|
rs2140176327
|
|
NM_015346.4(ZFYVE26):c.7417-17_7417-16del
|
|
|
NM_015346.4(ZFYVE26):c.7417-20C>G
|
|
|
NM_015346.4(ZFYVE26):c.7417-3del
|
rs780878664
|
|
NM_015346.4(ZFYVE26):c.7417-6T>C
|
rs2140176319
|
|
NM_015346.4(ZFYVE26):c.742A>C (p.Arg248=)
|
|
|
NM_015346.4(ZFYVE26):c.7431G>A (p.Leu2477=)
|
rs1321416471
|
|
NM_015346.4(ZFYVE26):c.7431G>T (p.Leu2477=)
|
|
|
NM_015346.4(ZFYVE26):c.7440C>T (p.Cys2480=)
|
rs2140176257
|
|
NM_015346.4(ZFYVE26):c.7470G>A (p.Val2490=)
|
rs2038550239
|
|
NM_015346.4(ZFYVE26):c.747C>G (p.Thr249=)
|
rs543334038
|
|
NM_015346.4(ZFYVE26):c.7482C>T (p.His2494=)
|
rs2038549750
|
|
NM_015346.4(ZFYVE26):c.7497C>T (p.Ala2499=)
|
|
|
NM_015346.4(ZFYVE26):c.7503C>G (p.Val2501=)
|
rs1594878153
|
|
NM_015346.4(ZFYVE26):c.7506G>A (p.Gln2502=)
|
rs2140176180
|
|
NM_015346.4(ZFYVE26):c.7512G>T (p.Val2504=)
|
|
|
NM_015346.4(ZFYVE26):c.7518G>A (p.Gln2506=)
|
|
|
NM_015346.4(ZFYVE26):c.753G>A (p.Gly251=)
|
|
|
NM_015346.4(ZFYVE26):c.7545A>C (p.Val2515=)
|
rs2140176106
|
|
NM_015346.4(ZFYVE26):c.7548G>A (p.Val2516=)
|
rs986052059
|
|
NM_015346.4(ZFYVE26):c.7554C>T (p.Asp2518=)
|
rs1449957510
|
|
NM_015346.4(ZFYVE26):c.7557C>T (p.Ile2519=)
|
|
|
NM_015346.4(ZFYVE26):c.7590G>T (p.Arg2530=)
|
|
|
NM_015346.4(ZFYVE26):c.7608C>T (p.Gly2536=)
|
rs748003139
|
|
NM_015346.4(ZFYVE26):c.7611C>T (p.Ser2537=)
|
|
|
NM_015346.4(ZFYVE26):c.7619G>A (p.Ter2540=)
|
|
|
NM_015346.4(ZFYVE26):c.763C>A (p.Arg255=)
|
rs267604034
|
|
NM_015346.4(ZFYVE26):c.76A>C (p.Arg26=)
|
rs2140260952
|
|
NM_015346.4(ZFYVE26):c.780C>T (p.Leu260=)
|
|
|
NM_015346.4(ZFYVE26):c.786C>T (p.Cys262=)
|
|
|
NM_015346.4(ZFYVE26):c.78G>A (p.Arg26=)
|
rs2140260949
|
|
NM_015346.4(ZFYVE26):c.807G>A (p.Arg269=)
|
rs1418365648
|
|
NM_015346.4(ZFYVE26):c.810C>T (p.Gly270=)
|
|
|
NM_015346.4(ZFYVE26):c.814C>T (p.Leu272=)
|
|
|
NM_015346.4(ZFYVE26):c.816G>A (p.Leu272=)
|
rs1186294289
|
|
NM_015346.4(ZFYVE26):c.816G>C (p.Leu272=)
|
rs1186294289
|
|
NM_015346.4(ZFYVE26):c.816G>T (p.Leu272=)
|
|
|
NM_015346.4(ZFYVE26):c.820C>T (p.Leu274=)
|
rs926830329
|
|
NM_015346.4(ZFYVE26):c.831T>C (p.His277=)
|
|
|
NM_015346.4(ZFYVE26):c.837T>C (p.Tyr279=)
|
rs1594938339
|
|
NM_015346.4(ZFYVE26):c.846G>A (p.Lys282=)
|
|
|
NM_015346.4(ZFYVE26):c.84A>G (p.Glu28=)
|
rs2140260927
|
|
NM_015346.4(ZFYVE26):c.870T>A (p.Ala290=)
|
rs2140251854
|
|
NM_015346.4(ZFYVE26):c.876C>T (p.Ala292=)
|
rs1164686507
|
|
NM_015346.4(ZFYVE26):c.886+18C>T
|
rs2140251804
|
|
NM_015346.4(ZFYVE26):c.886+20G>T
|
|
|
NM_015346.4(ZFYVE26):c.886+8C>A
|
rs2140251809
|
|
NM_015346.4(ZFYVE26):c.887-10T>C
|
rs1429296619
|
|
NM_015346.4(ZFYVE26):c.887-15T>C
|
|
|
NM_015346.4(ZFYVE26):c.887-19C>A
|
|
|
NM_015346.4(ZFYVE26):c.887-19C>G
|
|
|
NM_015346.4(ZFYVE26):c.887-19C>T
|
|
|
NM_015346.4(ZFYVE26):c.887-20C>T
|
|
|
NM_015346.4(ZFYVE26):c.887-4T>G
|
rs2140251127
|
|
NM_015346.4(ZFYVE26):c.887-6G>A
|
rs2140251133
|
|
NM_015346.4(ZFYVE26):c.888C>T (p.Val296=)
|
|
|
NM_015346.4(ZFYVE26):c.906T>C (p.Asp302=)
|
rs930318136
|
|
NM_015346.4(ZFYVE26):c.91C>T (p.Leu31=)
|
|
|
NM_015346.4(ZFYVE26):c.933C>T (p.Phe311=)
|
|
|
NM_015346.4(ZFYVE26):c.93G>A (p.Leu31=)
|
|
|
NM_015346.4(ZFYVE26):c.942C>T (p.Pro314=)
|
|
|
NM_015346.4(ZFYVE26):c.969C>T (p.Ala323=)
|
rs2140250995
|
|
NM_015346.4(ZFYVE26):c.984G>T (p.Leu328=)
|
rs2140250979
|
|
NM_015346.4(ZFYVE26):c.993C>T (p.Asn331=)
|
rs2040184164
|
|
NM_015346.4(ZFYVE26):c.996A>G (p.Lys332=)
|
|
|
NM_020435.4(GJC2):c.1035G>C (p.Ala345=)
|
|
|
NM_020435.4(GJC2):c.1050G>A (p.Leu350=)
|
|
|
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr)
|
rs565574386
|
|
NM_020435.4(GJC2):c.1092T>A (p.Ala364=)
|
|
|
NM_020435.4(GJC2):c.1122C>T (p.Cys374=)
|
|
|
NM_020435.4(GJC2):c.1125C>T (p.Val375=)
|
|
|
NM_020435.4(GJC2):c.1128C>A (p.Gly376=)
|
|
|
NM_020435.4(GJC2):c.1149G>C (p.Gly383=)
|
|
|
NM_020435.4(GJC2):c.117G>C (p.Thr39=)
|
rs768549431
|
|
NM_020435.4(GJC2):c.1191T>A (p.Ala397=)
|
|
|
NM_020435.4(GJC2):c.126C>T (p.Gly42=)
|
|
|
NM_020435.4(GJC2):c.175C>A (p.Arg59=)
|
|
|
NM_020435.4(GJC2):c.177G>T (p.Arg59=)
|
|
|
NM_020435.4(GJC2):c.27G>C (p.Leu9=)
|
rs761457231
|
|
NM_020435.4(GJC2):c.282C>T (p.Tyr94=)
|
|
|
NM_020435.4(GJC2):c.30_31delinsAA (p.Thr10_Arg11=)
|
|
|
NM_020435.4(GJC2):c.357G>T (p.Gly119=)
|
|
|
NM_020435.4(GJC2):c.363C>G (p.Arg121=)
|
|
|
NM_020435.4(GJC2):c.372C>G (p.Pro124=)
|
|
|
NM_020435.4(GJC2):c.373C>A (p.Arg125=)
|
|
|
NM_020435.4(GJC2):c.393G>A (p.Pro131=)
|
|
|
NM_020435.4(GJC2):c.417C>G (p.Ala139=)
|
rs939165968
|
|
NM_020435.4(GJC2):c.42G>A (p.Glu14=)
|
rs2124965941
|
|
NM_020435.4(GJC2):c.453C>T (p.Gly151=)
|
|
|
NM_020435.4(GJC2):c.462G>A (p.Glu154=)
|
|
|
NM_020435.4(GJC2):c.51C>T (p.His17=)
|
|
|
NM_020435.4(GJC2):c.537T>C (p.Thr179=)
|
rs2124966451
|
|
NM_020435.4(GJC2):c.546C>G (p.Val182=)
|
|
|
NM_020435.4(GJC2):c.549C>T (p.Gly183=)
|
|
|
NM_020435.4(GJC2):c.636G>C (p.Val212=)
|
|
|
NM_020435.4(GJC2):c.678C>T (p.Ala226=)
|
|
|
NM_020435.4(GJC2):c.765C>T (p.Asp255=)
|
rs768752998
|
|
NM_020435.4(GJC2):c.795G>T (p.Thr265=)
|
rs1485673013
|
|
NM_020435.4(GJC2):c.84C>T (p.Leu28=)
|
|
|
NM_020435.4(GJC2):c.873G>A (p.Leu291=)
|
|
|
NM_020435.4(GJC2):c.897C>T (p.Arg299=)
|
|
|
NM_020435.4(GJC2):c.960C>T (p.Phe320=)
|
|
|
NM_020435.4(GJC2):c.975T>G (p.Ala325=)
|
|
|
NM_020944.3(GBA2):c.1026+10G>C
|
rs763449390
|
|
NM_020944.3(GBA2):c.1027-18T>A
|
|
|
NM_020944.3(GBA2):c.1130-14T>G
|
|
|
NM_020944.3(GBA2):c.1130-15_1130-14del
|
|
|
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)
|
rs142607078
|
|
NM_020944.3(GBA2):c.1227A>T (p.Ser409=)
|
|
|
NM_020944.3(GBA2):c.1239C>T (p.Asp413=)
|
|
|
NM_020944.3(GBA2):c.1283+20G>A
|
|
|
NM_020944.3(GBA2):c.1332C>T (p.Leu444=)
|
rs1588012030
|
|
NM_020944.3(GBA2):c.1356C>T (p.Tyr452=)
|
|
|
NM_020944.3(GBA2):c.1399T>C (p.Leu467=)
|
|
|
NM_020944.3(GBA2):c.1410-11T>C
|
|
|
NM_020944.3(GBA2):c.1539C>T (p.Leu513=)
|
|
|
NM_020944.3(GBA2):c.1554G>T (p.Arg518=)
|
|
|
NM_020944.3(GBA2):c.1583-14A>G
|
|
|
NM_020944.3(GBA2):c.1688-10T>C
|
|
|
NM_020944.3(GBA2):c.1688-7C>T
|
rs1410564153
|
|
NM_020944.3(GBA2):c.1713G>A (p.Leu571=)
|
|
|
NM_020944.3(GBA2):c.171G>C (p.Thr57=)
|
rs752796065
|
|
NM_020944.3(GBA2):c.1731G>C (p.Leu577=)
|
rs1588008179
|
|
NM_020944.3(GBA2):c.1761G>A (p.Arg587=)
|
|
|
NM_020944.3(GBA2):c.1795+12C>T
|
|
|
NM_020944.3(GBA2):c.1947+15T>C
|
|
|
NM_020944.3(GBA2):c.2055-12G>A
|
|
|
NM_020944.3(GBA2):c.2055-9C>T
|
rs1554665870
|
|
NM_020944.3(GBA2):c.2055-9_2055-8insT
|
rs1554665868
|
|
NM_020944.3(GBA2):c.2115G>A (p.Leu705=)
|
rs1826376284
|
|
NM_020944.3(GBA2):c.2166C>A (p.Gly722=)
|
|
|
NM_020944.3(GBA2):c.2182A>C (p.Arg728=)
|
|
|
NM_020944.3(GBA2):c.2197+9G>A
|
|
|
NM_020944.3(GBA2):c.2198-6C>T
|
|
|
NM_020944.3(GBA2):c.2229G>C (p.Arg743=)
|
|
|
NM_020944.3(GBA2):c.2313+16G>C
|
|
|
NM_020944.3(GBA2):c.2331T>C (p.His777=)
|
rs777387371
|
|
NM_020944.3(GBA2):c.234C>G (p.Gly78=)
|
|
|
NM_020944.3(GBA2):c.2388G>A (p.Gly796=)
|
|
|
NM_020944.3(GBA2):c.2481G>A (p.Gly827=)
|
|
|
NM_020944.3(GBA2):c.2505+12dup
|
rs747824980
|
|
NM_020944.3(GBA2):c.2505+14T>C
|
|
|
NM_020944.3(GBA2):c.2506-14A>G
|
|
|
NM_020944.3(GBA2):c.2562G>A (p.Glu854=)
|
|
|
NM_020944.3(GBA2):c.2598C>T (p.Tyr866=)
|
|
|
NM_020944.3(GBA2):c.2673A>G (p.Gln891=)
|
|
|
NM_020944.3(GBA2):c.2718C>T (p.Gly906=)
|
|
|
NM_020944.3(GBA2):c.360-19A>G
|
|
|
NM_020944.3(GBA2):c.414C>T (p.Ile138=)
|
|
|
NM_020944.3(GBA2):c.568-15A>G
|
|
|
NM_020944.3(GBA2):c.587G>A (p.Arg196Gln)
|
|
|
NM_020944.3(GBA2):c.642C>T (p.Leu214=)
|
|
|
NM_020944.3(GBA2):c.72G>A (p.Glu24=)
|
|
|
NM_020944.3(GBA2):c.786+13C>T
|
|
|
NM_020944.3(GBA2):c.786+20A>G
|
|
|
NM_020944.3(GBA2):c.786+8C>T
|
|
|
NM_020944.3(GBA2):c.787-10C>A
|
|
|
NM_020944.3(GBA2):c.801T>A (p.Pro267=)
|
|
|
NM_020944.3(GBA2):c.909G>T (p.Gly303=)
|
|
|
NM_020944.3(GBA2):c.90C>T (p.Cys30=)
|
|
|
NM_020944.3(GBA2):c.969C>T (p.Leu323=)
|
|
|
NM_024306.5(FA2H):c.1008C>T (p.His336=)
|
|
|
NM_024306.5(FA2H):c.1039+11G>A
|
|
|
NM_024306.5(FA2H):c.1039+14T>G
|
|
|
NM_024306.5(FA2H):c.1039+18C>T
|
|
|
NM_024306.5(FA2H):c.1040-18G>A
|
|
|
NM_024306.5(FA2H):c.1040-5T>G
|
|
|
NM_024306.5(FA2H):c.1104C>T (p.His368=)
|
|
|
NM_024306.5(FA2H):c.1113G>A (p.Thr371=)
|
|
|
NM_024306.5(FA2H):c.148C>T (p.Leu50=)
|
rs1346624061
|
|
NM_024306.5(FA2H):c.159G>A (p.Arg53=)
|
|
|
NM_024306.5(FA2H):c.162G>T (p.Ala54=)
|
rs778018677
|
|
NM_024306.5(FA2H):c.198G>A (p.Pro66=)
|
rs570454174
|
|
NM_024306.5(FA2H):c.216C>T (p.Asn72=)
|
|
|
NM_024306.5(FA2H):c.21C>G (p.Pro7=)
|
|
|
NM_024306.5(FA2H):c.270+18C>A
|
|
|
NM_024306.5(FA2H):c.270+18C>T
|
|
|
NM_024306.5(FA2H):c.271-12T>A
|
rs1314200047
|
|
NM_024306.5(FA2H):c.271-12T>G
|
rs1314200047
|
|
NM_024306.5(FA2H):c.271-14T>C
|
|
|
NM_024306.5(FA2H):c.342C>T (p.Phe114=)
|
|
|
NM_024306.5(FA2H):c.363+17G>A
|
|
|
NM_024306.5(FA2H):c.364-4G>A
|
|
|
NM_024306.5(FA2H):c.364-9C>T
|
|
|
NM_024306.5(FA2H):c.367C>T (p.Leu123=)
|
|
|
NM_024306.5(FA2H):c.36G>T (p.Ser12=)
|
|
|
NM_024306.5(FA2H):c.447G>T (p.Val149=)
|
|
|
NM_024306.5(FA2H):c.45G>A (p.Glu15=)
|
|
|
NM_024306.5(FA2H):c.506+10T>G
|
|
|
NM_024306.5(FA2H):c.507-16G>C
|
rs1471422962
|
|
NM_024306.5(FA2H):c.507-19C>A
|
rs2144616111
|
|
NM_024306.5(FA2H):c.585C>T (p.Asn195=)
|
rs940374724
|
|
NM_024306.5(FA2H):c.621G>A (p.Thr207=)
|
|
|
NM_024306.5(FA2H):c.624G>A (p.Val208=)
|
|
|
NM_024306.5(FA2H):c.648C>G (p.Pro216=)
|
|
|
NM_024306.5(FA2H):c.648C>T (p.Pro216=)
|
rs762526718
|
|
NM_024306.5(FA2H):c.669A>C (p.Thr223=)
|
|
|
NM_024306.5(FA2H):c.675C>T (p.Leu225=)
|
|
|
NM_024306.5(FA2H):c.786+11C>T
|
|
|
NM_024306.5(FA2H):c.786+15G>A
|
|
|
NM_024306.5(FA2H):c.786+16T>G
|
|
|
NM_024306.5(FA2H):c.786+8G>T
|
|
|
NM_024306.5(FA2H):c.803C>T (p.Ser268Phe)
|
|
|
NM_024306.5(FA2H):c.813C>G (p.Val271=)
|
|
|
NM_024306.5(FA2H):c.843C>T (p.Ile281=)
|
|
|
NM_024306.5(FA2H):c.846C>G (p.Gly282=)
|
rs370973830
|
|
NM_024306.5(FA2H):c.846C>T (p.Gly282=)
|
rs370973830
|
|
NM_024306.5(FA2H):c.849C>T (p.Val283=)
|
rs2144601881
|
|
NM_024306.5(FA2H):c.858G>A (p.Leu286=)
|
|
|
NM_024306.5(FA2H):c.870C>T (p.Leu290=)
|
|
|
NM_024306.5(FA2H):c.906G>A (p.Ala302=)
|
|
|
NM_024306.5(FA2H):c.969G>T (p.Pro323=)
|
|
|
NM_183075.3(CYP2U1):c.1023C>T (p.Tyr341=)
|
|
|
NM_183075.3(CYP2U1):c.1056T>C (p.Ala352=)
|
|
|
NM_183075.3(CYP2U1):c.108G>A (p.Ala36=)
|
|
|
NM_183075.3(CYP2U1):c.1107G>A (p.Ser369=)
|
|
|
NM_183075.3(CYP2U1):c.1126+19C>G
|
|
|
NM_183075.3(CYP2U1):c.1127-13C>G
|
|
|
NM_183075.3(CYP2U1):c.1127-17T>A
|
rs6856745
|
|
NM_183075.3(CYP2U1):c.115C>T (p.Leu39=)
|
|
|
NM_183075.3(CYP2U1):c.1167C>T (p.Asn389=)
|
|
|
NM_183075.3(CYP2U1):c.117A>C (p.Leu39=)
|
|
|
NM_183075.3(CYP2U1):c.1199T>C (p.Met400Thr)
|
|
|
NM_183075.3(CYP2U1):c.1254G>A (p.Pro418=)
|
|
|
NM_183075.3(CYP2U1):c.1288+12G>T
|
rs2126201170
|
|
NM_183075.3(CYP2U1):c.1289-8T>C
|
rs1733827276
|
|
NM_183075.3(CYP2U1):c.1293C>G (p.Leu431=)
|
|
|
NM_183075.3(CYP2U1):c.1392T>C (p.Pro464=)
|
|
|
NM_183075.3(CYP2U1):c.1410C>T (p.Asp470=)
|
rs2126202758
|
|
NM_183075.3(CYP2U1):c.1519C>T (p.Leu507=)
|
|
|
NM_183075.3(CYP2U1):c.1615A>G (p.Ile539Val)
|
|
|
NM_183075.3(CYP2U1):c.168G>T (p.Ala56=)
|
|
|
NM_183075.3(CYP2U1):c.174C>T (p.Gly58=)
|
|
|
NM_183075.3(CYP2U1):c.183C>T (p.Pro61=)
|
|
|
NM_183075.3(CYP2U1):c.186G>T (p.Gly62=)
|
|
|
NM_183075.3(CYP2U1):c.195C>T (p.Pro65=)
|
|
|
NM_183075.3(CYP2U1):c.216C>T (p.Phe72=)
|
|
|
NM_183075.3(CYP2U1):c.261G>C (p.Leu87=)
|
rs1732999423
|
|
NM_183075.3(CYP2U1):c.294C>T (p.Pro98=)
|
|
|
NM_183075.3(CYP2U1):c.30G>A (p.Pro10=)
|
|
|
NM_183075.3(CYP2U1):c.345C>T (p.Gly115=)
|
rs2126188483
|
|
NM_183075.3(CYP2U1):c.411C>T (p.Arg137=)
|
rs2126188577
|
|
NM_183075.3(CYP2U1):c.420G>C (p.Leu140=)
|
|
|
NM_183075.3(CYP2U1):c.453G>A (p.Pro151=)
|
|
|
NM_183075.3(CYP2U1):c.491-13T>C
|
|
|
NM_183075.3(CYP2U1):c.507T>C (p.His169=)
|
|
|
NM_183075.3(CYP2U1):c.514C>T (p.Pro172Ser)
|
|
|
NM_183075.3(CYP2U1):c.516C>T (p.Pro172=)
|
|
|
NM_183075.3(CYP2U1):c.54G>A (p.Ala18=)
|
|
|
NM_183075.3(CYP2U1):c.57C>G (p.Arg19=)
|
|
|
NM_183075.3(CYP2U1):c.591C>G (p.Pro197=)
|
|
|
NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu)
|
rs550088634
|
|
NM_183075.3(CYP2U1):c.666C>T (p.Ser222=)
|
|
|
NM_183075.3(CYP2U1):c.774C>G (p.Gly258=)
|
|
|
NM_183075.3(CYP2U1):c.831T>C (p.Tyr277=)
|
|
|
NM_183075.3(CYP2U1):c.864A>G (p.Arg288=)
|
rs2126199461
|
|
NM_183075.3(CYP2U1):c.869T>C (p.Ile290Thr)
|
rs761095930
|
|
NM_183075.3(CYP2U1):c.88C>T (p.Leu30=)
|
|
|
NM_183075.3(CYP2U1):c.891C>T (p.Phe297=)
|
|
|
NM_183075.3(CYP2U1):c.924T>C (p.Ser308=)
|
|
|
NM_183075.3(CYP2U1):c.930T>C (p.Asp310=)
|
|
|