ClinVar Miner

List of variants studied for complex hereditary spastic paraplegia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (73):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8715
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HGVS dbSNP gnomAD frequency
NM_014844.5(TECPR2):c.958G>A (p.Val320Ile) rs1309353 0.93726
NM_012073.5(CCT5):c.426T>C (p.Arg142=) rs1042392 0.74241
NM_001368809.2(AMPD2):c.860+19A>G rs524998 0.73896
NM_012073.5(CCT5):c.198A>G (p.Gly66=) rs2578617 0.73455
NM_012073.5(CCT5):c.1317+10C>A rs2578642 0.73429
NM_031448.6(C19orf12):c.324C>T (p.Thr108=) rs10424582 0.72163
NM_001368809.2(AMPD2):c.1272T>C (p.His424=) rs863978 0.70414
NM_001166114.2(PNPLA6):c.1362+8T>C rs620744 0.68799
NM_006612.6(KIF1C):c.2748A>G (p.Pro916=) rs346828 0.66831
NM_006070.6(TFG):c.846T>C (p.Pro282=) rs11353 0.66628
NM_022089.4(ATP13A2):c.705+228A>G rs2871776 0.56136
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.55111
NM_001776.6(ENTPD1):c.263-10T>C rs3181131 0.53695
NC_000010.11:g.95755380G>A rs3814159 0.50381
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41522
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659 0.40884
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662 0.40757
NM_001351169.2(NT5C2):c.1647C>T (p.Asp549=) rs3740387 0.40426
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_025137.4(SPG11):c.4907-365C>T rs2555355 0.38470
NM_152415.3(VPS37A):c.970-1604A>G rs10110023 0.36222
NM_014844.5(TECPR2):c.951+18A>G rs4906197 0.35713
NM_001166114.2(PNPLA6):c.2818-19A>G rs563826 0.35658
NM_001166114.2(PNPLA6):c.2635-19A>C rs539887 0.35604
NM_002361.4(MAG):c.462G>A (p.Glu154=) rs3746248 0.35409
NM_001166114.2(PNPLA6):c.1253-6C>T rs574930 0.32237
NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala) rs55873785 0.31221
NM_002361.4(MAG):c.1209C>T (p.Thr403=) rs1126770 0.27773
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=) rs8107538 0.26133
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val) rs10149146 0.25663
NM_001010867.4(IBA57):c.631G>A (p.Gly211Ser) rs2298014 0.25152
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_152415.3(VPS37A):c.202T>C (p.Leu68=) rs11555738 0.22377
NM_152415.3(VPS37A):c.1053C>T (p.Asp351=) rs2285269 0.22285
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) rs3738815 0.20463
NM_002361.4(MAG):c.399C>T (p.Ser133=) rs2301600 0.20297
NM_015214.3(DDHD2):c.557C>T (p.Thr186Met) rs2306899 0.17541
NM_001166114.2(PNPLA6):c.3210+20T>G rs45505598 0.16710
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr) rs28362581 0.13084
NM_014844.5(TECPR2):c.1869G>A (p.Gly623=) rs45605932 0.12774
NM_001351169.2(NT5C2):c.7A>G (p.Thr3Ala) rs10883841 0.10846
NM_001776.6(ENTPD1):c.573+14A>G rs3176886 0.10636
NM_014844.5(TECPR2):c.2760C>T (p.Ser920=) rs17100923 0.10438
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_001351169.2(NT5C2):c.*313C>G rs10786736 0.09743
NM_015161.3(ARL6IP1):c.409-18T>C rs71382566 0.09544
NM_001351169.2(NT5C2):c.1211+20C>A rs17094683 0.08793
NM_006612.6(KIF1C):c.1019+18A>G rs72838331 0.08330
NM_006612.6(KIF1C):c.231T>C (p.Ile77=) rs17707385 0.08025
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=) rs591040 0.07584
NM_006612.6(KIF1C):c.1938-4C>G rs4790725 0.07329
NM_015161.3(ARL6IP1):c.170+12A>T rs17663173 0.07245
NM_001776.6(ENTPD1):c.234G>C (p.Val78=) rs61731067 0.05384
NM_006612.6(KIF1C):c.1937+11G>T rs346826 0.05064
NM_014844.5(TECPR2):c.1614A>G (p.Pro538=) rs17791240 0.04164
NM_014844.5(TECPR2):c.1315C>T (p.Pro439Ser) rs2273906 0.04157
NM_014844.5(TECPR2):c.1156G>A (p.Ala386Thr) rs11845676 0.04113
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=) rs56290406 0.04044
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03793
NM_006612.6(KIF1C):c.1656A>G (p.Pro552=) rs57144955 0.03773
NM_006612.6(KIF1C):c.2298C>T (p.His766=) rs73345356 0.03703
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03433
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
NM_012073.5(CCT5):c.738G>A (p.Ala246=) rs11557649 0.03346
NM_001166114.2(PNPLA6):c.2547G>A (p.Ser849=) rs522776 0.03285
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val) rs45467297 0.03285
NM_001166114.2(PNPLA6):c.2071-15C>T rs7250363 0.03172
NM_006070.6(TFG):c.722-8G>T rs41272979 0.02999
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_022089.4(ATP13A2):c.3235+17G>A rs56146840 0.02453
NM_001368809.2(AMPD2):c.1984-19C>T rs75276578 0.02404
NM_001166114.2(PNPLA6):c.1252+17C>A rs117630756 0.02222
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02201
NM_025137.4(SPG11):c.6754+19A>G rs116635875 0.02121
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=) rs80338869 0.02054
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=) rs35732838 0.01999
NM_012073.5(CCT5):c.332-18C>G rs11741923 0.01963
NM_001776.6(ENTPD1):c.877G>A (p.Val293Ile) rs3793744 0.01829
NM_006070.6(TFG):c.416-9T>C rs115896544 0.01708
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_014844.5(TECPR2):c.1802C>T (p.Pro601Leu) rs118141823 0.01676
NM_012073.5(CCT5):c.437A>T (p.Glu146Val) rs11557652 0.01601
NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=) rs34030799 0.01484
NM_006612.6(KIF1C):c.1293G>A (p.Thr431=) rs35919356 0.01482
NM_006070.6(TFG):c.945G>A (p.Pro315=) rs61736338 0.01477
NM_006612.6(KIF1C):c.2987G>A (p.Ser996Asn) rs115332491 0.01470
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_014844.5(TECPR2):c.2941C>A (p.Gln981Lys) rs62000389 0.01415
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu) rs112732576 0.01318
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01279
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752 0.01259
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_152415.3(VPS37A):c.316-17T>C rs117165264 0.01240
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01235
NM_001010867.4(IBA57):c.264C>G (p.Ala88=) rs13375853 0.01203
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=) rs113264142 0.01159
NM_006070.6(TFG):c.552G>A (p.Ala184=) rs35648279 0.01123
NM_002361.4(MAG):c.409A>G (p.Ile137Val) rs113328438 0.01072
NM_001166114.2(PNPLA6):c.3094-5C>T rs116788699 0.01066
NM_006612.6(KIF1C):c.1166-8C>T rs114935927 0.01049
NM_022089.4(ATP13A2):c.2763-16G>A rs114407349 0.01044
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842 0.00956
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_001166114.2(PNPLA6):c.1704C>G (p.Pro568=) rs62111288 0.00930
NM_001166114.2(PNPLA6):c.3603G>A (p.Gln1201=) rs112133109 0.00930
NM_001166114.2(PNPLA6):c.555-20G>A rs183762415 0.00880
NM_014844.5(TECPR2):c.952-5G>A rs55716270 0.00869
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=) rs61732733 0.00809
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_012073.5(CCT5):c.1194G>A (p.Ala398=) rs113262482 0.00768
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=) rs113335442 0.00745
NM_001368809.2(AMPD2):c.223-4C>T rs116223306 0.00736
NM_006612.6(KIF1C):c.1751-7T>A rs148404628 0.00709
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_152415.3(VPS37A):c.616A>T (p.Ile206Phe) rs17502618 0.00682
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_025137.4(SPG11):c.2621-15T>G rs188590034 0.00667
NM_001010867.4(IBA57):c.462C>T (p.His154=) rs148398789 0.00658
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_006070.6(TFG):c.663C>A (p.Gly221=) rs140669729 0.00603
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_002361.4(MAG):c.1657A>C (p.Asn553His) rs141352771 0.00583
NM_002361.4(MAG):c.47-4G>T rs147119099 0.00546
NM_014844.5(TECPR2):c.4082-16G>A rs116168966 0.00545
NM_152415.3(VPS37A):c.315+14A>C rs59713854 0.00537
NM_006612.6(KIF1C):c.2105C>T (p.Thr702Ile) rs138935423 0.00523
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389 0.00523
NM_025137.4(SPG11):c.993C>T (p.Ser331=) rs76823973 0.00519
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=) rs55979991 0.00505
NM_012073.5(CCT5):c.1086C>G (p.Ile362Met) rs141675330 0.00491
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162 0.00490
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala) rs61734958 0.00485
NM_006070.6(TFG):c.1090A>C (p.Thr364Pro) rs6772054 0.00476
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_025137.4(SPG11):c.4434+11T>C rs146501021 0.00456
NM_001351169.2(NT5C2):c.921+18T>G rs17115449 0.00452
NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu) rs116012798 0.00451
NM_006612.6(KIF1C):c.1165+4G>A rs192489748 0.00449
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr) rs79915936 0.00444
NM_015161.3(ARL6IP1):c.204C>T (p.Ser68=) rs138748723 0.00441
NM_002361.4(MAG):c.1617-17C>T rs148059390 0.00439
NM_001166114.2(PNPLA6):c.414-18C>T rs149630061 0.00421
NM_006070.6(TFG):c.594T>G (p.Ala198=) rs12562 0.00417
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) rs201118405 0.00414
NM_006612.6(KIF1C):c.1666+12G>C rs190329136 0.00411
NM_015214.3(DDHD2):c.912T>A (p.Ile304=) rs139393309 0.00410
NM_152415.3(VPS37A):c.24C>T (p.Thr8=) rs146098391 0.00409
NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=) rs34030828 0.00408
NM_002361.4(MAG):c.1716+18G>C rs10419210 0.00401
NM_006612.6(KIF1C):c.1815G>A (p.Leu605=) rs78356534 0.00398
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu) rs72700618 0.00388
NM_002361.4(MAG):c.452C>T (p.Ala151Val) rs144553163 0.00387
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr) rs142056835 0.00379
NM_006612.6(KIF1C):c.2646T>C (p.Asn882=) rs77312856 0.00374
NM_001166114.2(PNPLA6):c.1005+14G>A rs190321280 0.00371
NM_014844.5(TECPR2):c.3075+18C>T rs140418145 0.00371
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His) rs139687202 0.00369
NM_014844.5(TECPR2):c.3790-18G>C rs138918519 0.00368
NM_002361.4(MAG):c.1799C>T (p.Ser600Leu) rs116643737 0.00364
NM_014844.5(TECPR2):c.1789C>T (p.Leu597Phe) rs116185336 0.00363
NM_015214.3(DDHD2):c.226G>T (p.Gly76Cys) rs141644282 0.00358
NM_015214.3(DDHD2):c.227G>A (p.Gly76Asp) rs150361106 0.00358
NM_006612.6(KIF1C):c.183+17G>C rs113047933 0.00357
NM_025137.4(SPG11):c.64A>G (p.Met22Val) rs34255962 0.00354
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) rs114634318 0.00353
NM_002361.4(MAG):c.246C>T (p.His82=) rs142156011 0.00345
NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr) rs61745091 0.00343
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=) rs79724242 0.00341
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699 0.00336
NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr) rs144147210 0.00331
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817 0.00324
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=) rs114727970 0.00316
NM_001368809.2(AMPD2):c.1407+3A>G rs41280332 0.00312
NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=) rs116415979 0.00302
NM_015214.3(DDHD2):c.1127A>G (p.Asp376Gly) rs148664622 0.00300
NM_006612.6(KIF1C):c.1937+14A>C rs188650236 0.00288
NM_014844.5(TECPR2):c.1260C>T (p.Ser420=) rs147784739 0.00286
NM_006612.6(KIF1C):c.153C>T (p.Thr51=) rs147583562 0.00277
NM_015214.3(DDHD2):c.1168C>T (p.Leu390=) rs142190071 0.00274
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00270
NM_025137.4(SPG11):c.4578A>G (p.Thr1526=) rs151137503 0.00267
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg) rs73023451 0.00262
NM_006070.6(TFG):c.184+11T>C rs200924045 0.00255
NM_015214.3(DDHD2):c.2047T>A (p.Cys683Ser) rs148536791 0.00254
NM_002361.4(MAG):c.1609C>T (p.Arg537Cys) rs35237014 0.00252
NM_152415.3(VPS37A):c.637A>G (p.Ile213Val) rs17687375 0.00252
NM_014844.5(TECPR2):c.1470C>T (p.Ser490=) rs149584733 0.00245
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=) rs115985012 0.00228
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_025137.4(SPG11):c.4001+9G>T rs141177255 0.00220
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) rs188353745 0.00215
NM_006070.6(TFG):c.415+16A>G rs201290760 0.00215
NM_001166114.2(PNPLA6):c.2937-6C>T rs200932494 0.00214
NM_006612.6(KIF1C):c.3071G>A (p.Arg1024Gln) rs141225452 0.00204
NM_001166114.2(PNPLA6):c.4060C>T (p.Leu1354=) rs150392453 0.00202
NM_012073.5(CCT5):c.331+14A>T rs201171003 0.00199
NM_002361.4(MAG):c.1104G>A (p.Thr368=) rs140483946 0.00196
NM_012073.5(CCT5):c.1350G>A (p.Ala450=) rs142127415 0.00195
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) rs140048110 0.00195
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=) rs114624650 0.00189
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu) rs141818132 0.00175
NM_001166114.2(PNPLA6):c.3234C>T (p.Asn1078=) rs148831568 0.00174
NM_002361.4(MAG):c.47-17C>T rs201985530 0.00172
NM_001368809.2(AMPD2):c.1984-15C>G rs368592941 0.00168
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val) rs114945876 0.00165
NM_022089.4(ATP13A2):c.3406-14C>T rs139088170 0.00163
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00160
NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=) rs35337955 0.00159
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg) rs118037269 0.00157
NM_152415.3(VPS37A):c.125+8G>A rs145945235 0.00156
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=) rs148601288 0.00153
NM_025137.4(SPG11):c.4744-6T>C rs147550048 0.00153
NM_001368809.2(AMPD2):c.1276-20A>G rs140464475 0.00149
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167 0.00147
NM_006612.6(KIF1C):c.732C>G (p.Ile244Met) rs139697370 0.00145
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg) rs200573434 0.00145
NM_014844.5(TECPR2):c.4081+8C>A rs199845217 0.00143
NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile) rs144870163 0.00140
NM_001166114.2(PNPLA6):c.2385C>T (p.His795=) rs143914980 0.00136
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_014844.5(TECPR2):c.4089G>A (p.Ala1363=) rs139314486 0.00134
NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu) rs200897068 0.00128
NM_022089.4(ATP13A2):c.706-14C>T rs371532404 0.00128
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_025137.4(SPG11):c.2887A>C (p.Arg963=) rs150689014 0.00127
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro) rs549839037 0.00122
NM_006612.6(KIF1C):c.3027C>T (p.Val1009=) rs141589627 0.00121
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala) rs111356679 0.00119
NM_006612.6(KIF1C):c.885G>A (p.Ser295=) rs148489739 0.00117
NM_015161.3(ARL6IP1):c.494-9T>A rs187822079 0.00117
NM_006070.6(TFG):c.415+7C>G rs149927288 0.00116
NM_002361.4(MAG):c.1647G>A (p.Ser549=) rs148183570 0.00115
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792 0.00115
NM_001776.6(ENTPD1):c.1437C>T (p.Phe479=) rs150615255 0.00114
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys) rs72700613 0.00114
NM_014844.5(TECPR2):c.762G>A (p.Thr254=) rs138070234 0.00114
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=) rs144816455 0.00112
NM_025137.4(SPG11):c.3068A>G (p.Glu1023Gly) rs143145331 0.00112
NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro) rs146872023 0.00108
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) rs137955309 0.00108
NM_001010867.4(IBA57):c.645C>T (p.Asp215=) rs61743941 0.00107
NM_002361.4(MAG):c.14C>T (p.Thr5Met) rs149262142 0.00103
NM_006612.6(KIF1C):c.1572-3C>T rs141461209 0.00103
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_001166114.2(PNPLA6):c.2936+17C>T rs763749201 0.00102
NM_001368809.2(AMPD2):c.855C>T (p.Asp285=) rs114463063 0.00101
NM_031448.6(C19orf12):c.313G>A (p.Val105Met) rs146492790 0.00096
NM_001166114.2(PNPLA6):c.315+13C>T rs200676307 0.00094
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449 0.00093
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00091
NM_001368809.2(AMPD2):c.1408-12C>T rs189047791 0.00090
NM_022089.4(ATP13A2):c.841-4A>G rs112549590 0.00090
NM_001166114.2(PNPLA6):c.1485C>T (p.Ile495=) rs199903577 0.00089
NM_012073.5(CCT5):c.874-16G>T rs80019852 0.00089
NM_001166114.2(PNPLA6):c.1530+11G>A rs184998637 0.00087
NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=) rs149871062 0.00087
NM_001368809.2(AMPD2):c.1699-11T>C rs188035528 0.00087
NM_025137.4(SPG11):c.7161A>T (p.Gln2387His) rs201918221 0.00086
NM_001776.6(ENTPD1):c.1020C>T (p.Tyr340=) rs149326648 0.00085
NM_001351169.2(NT5C2):c.1077A>G (p.Lys359=) rs141391492 0.00083
NM_025137.4(SPG11):c.4755A>C (p.Ala1585=) rs144951661 0.00083
NM_006612.6(KIF1C):c.1937+19C>T rs181358276 0.00082
NM_001351169.2(NT5C2):c.407A>G (p.Gln136Arg) rs12262171 0.00081
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969 0.00081
NM_014844.5(TECPR2):c.1605C>T (p.Asn535=) rs145715326 0.00080
NM_002361.4(MAG):c.966C>T (p.Val322=) rs147226896 0.00077
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_001010867.4(IBA57):c.210G>C (p.Leu70=) rs199589485 0.00073
NM_001010867.4(IBA57):c.11C>T (p.Ala4Val) rs199781237 0.00072
NM_002361.4(MAG):c.1836G>A (p.Thr612=) rs142825621 0.00072
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser) rs547860186 0.00072
NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile) rs149136930 0.00071
NM_014844.5(TECPR2):c.952-18T>G rs564260248 0.00071
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=) rs374052426 0.00070
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met) rs148201608 0.00070
NM_012073.5(CCT5):c.166+8del rs773556943 0.00069
NM_012073.5(CCT5):c.954C>T (p.Asn318=) rs150870419 0.00068
NM_014844.5(TECPR2):c.952-20T>G rs541077629 0.00068
NM_006612.6(KIF1C):c.940+17C>A rs74985014 0.00066
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=) rs139887370 0.00066
NM_001166114.2(PNPLA6):c.3252C>T (p.Thr1084=) rs151001271 0.00065
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys) rs144915346 0.00065
NM_152415.3(VPS37A):c.1176A>G (p.Gln392=) rs117336150 0.00065
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=) rs138837774 0.00064
NM_006612.6(KIF1C):c.2470G>A (p.Gly824Arg) rs533724781 0.00064
NM_014844.5(TECPR2):c.1833A>G (p.Thr611=) rs147716085 0.00063
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=) rs138023728 0.00061
NM_014844.5(TECPR2):c.606T>C (p.Ser202=) rs140791062 0.00061
NM_001776.6(ENTPD1):c.25G>A (p.Val9Met) rs150772804 0.00059
NM_001166114.2(PNPLA6):c.3914-11C>T rs371325894 0.00058
NM_006612.6(KIF1C):c.2578G>A (p.Ala860Thr) rs143671350 0.00058
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg) rs139019255 0.00058
NM_001166114.2(PNPLA6):c.1126C>A (p.Arg376=) rs780122556 0.00057
NM_025137.4(SPG11):c.1906C>T (p.Leu636=) rs145316065 0.00057
NM_031448.6(C19orf12):c.343G>A (p.Glu115Lys) rs139422624 0.00056
NM_022089.4(ATP13A2):c.106-14C>T rs199706883 0.00054
NM_001166114.2(PNPLA6):c.795+3G>A rs375930477 0.00053
NM_001166114.2(PNPLA6):c.924+10C>A rs368958715 0.00053
NM_006612.6(KIF1C):c.2325C>T (p.Ala775=) rs113398149 0.00053
NM_006070.6(TFG):c.457T>G (p.Ser153Ala) rs140466338 0.00051
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr) rs77170608 0.00051
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_152415.3(VPS37A):c.1162G>T (p.Ala388Ser) rs146329558 0.00051
NM_022089.4(ATP13A2):c.2331C>T (p.His777=) rs144708504 0.00050
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) rs145548316 0.00050
NM_025137.4(SPG11):c.7152-14_7152-10dup rs566399432 0.00050
NM_002361.4(MAG):c.753C>G (p.Ala251=) rs149210442 0.00049
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu) rs139091750 0.00049
NM_001368809.2(AMPD2):c.270G>T (p.Pro90=) rs139217835 0.00048
NM_001776.6(ENTPD1):c.1333G>C (p.Gly445Arg) rs145994698 0.00048
NM_002361.4(MAG):c.771G>A (p.Val257=) rs143350237 0.00048
NM_014844.5(TECPR2):c.3643G>A (p.Ala1215Thr) rs114136452 0.00048
NM_001166114.2(PNPLA6):c.171A>C (p.Gly57=) rs140825810 0.00046
NM_025137.4(SPG11):c.2874A>C (p.Glu958Asp) rs140164220 0.00046
NM_001368809.2(AMPD2):c.1992C>T (p.Val664=) rs143163487 0.00045
NM_025137.4(SPG11):c.1605C>T (p.Ala535=) rs117683234 0.00045
NM_025137.4(SPG11):c.6632G>A (p.Arg2211His) rs144165094 0.00045
NM_001166114.2(PNPLA6):c.3914-8G>A rs374861157 0.00044
NM_022089.4(ATP13A2):c.3235+20C>T rs376475762 0.00044
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) rs145515028 0.00044
NM_022089.4(ATP13A2):c.2160G>T (p.Gly720=) rs61999317 0.00043
NM_025137.4(SPG11):c.7000-20T>C rs181702715 0.00043
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=) rs150526956 0.00042
NM_002860.4(ALDH18A1):c.1381G>A (p.Ala461Thr) rs150429857 0.00042
NM_025137.4(SPG11):c.6360C>T (p.Ile2120=) rs368605117 0.00042
NM_001166114.2(PNPLA6):c.2854G>C (p.Asp952His) rs10411650 0.00041
NM_014844.5(TECPR2):c.3465C>A (p.Ser1155Arg) rs75004775 0.00041
NM_001010867.4(IBA57):c.780C>T (p.Tyr260=) rs202126055 0.00040
NM_002361.4(MAG):c.439C>G (p.Pro147Ala) rs202205105 0.00040
NM_012073.5(CCT5):c.440A>G (p.His147Arg) rs118203986 0.00040
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) rs141596008 0.00040
NM_001166114.2(PNPLA6):c.3003C>T (p.Gly1001=) rs145459571 0.00039
NM_001368809.2(AMPD2):c.1081-8C>A rs145268448 0.00039
NM_015214.3(DDHD2):c.1348A>G (p.Ile450Val) rs541849444 0.00039
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_025137.4(SPG11):c.3486T>C (p.Phe1162=) rs139532029 0.00039
NM_006612.6(KIF1C):c.1962C>T (p.Tyr654=) rs113561684 0.00038
NM_014844.5(TECPR2):c.1140G>A (p.Ala380=) rs139710994 0.00038
NM_014844.5(TECPR2):c.2330G>A (p.Ser777Asn) rs144849839 0.00038
NM_006612.6(KIF1C):c.884C>T (p.Ser295Leu) rs145650252 0.00037
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr) rs143834546 0.00037
NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=) rs200310048 0.00036
NM_002361.4(MAG):c.1152C>T (p.Pro384=) rs78408471 0.00036
NM_012073.5(CCT5):c.895C>G (p.Leu299Val) rs141509761 0.00036
NM_014844.5(TECPR2):c.3282G>A (p.Lys1094=) rs199835341 0.00036
NM_014844.5(TECPR2):c.516A>G (p.Pro172=) rs142385149 0.00036
NM_015214.3(DDHD2):c.1130C>T (p.Ser377Leu) rs145943165 0.00036
NM_015214.3(DDHD2):c.864A>C (p.Ile288=) rs148904419 0.00036
NM_014844.5(TECPR2):c.2847G>A (p.Ala949=) rs145452704 0.00035
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504 0.00035
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=) rs148026506 0.00035
NM_001010867.4(IBA57):c.341+9G>A rs370043210 0.00034
NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr) rs140163897 0.00034
NM_001368809.2(AMPD2):c.1699-12G>T rs372637186 0.00034
NM_001368809.2(AMPD2):c.633C>G (p.Thr211=) rs141818976 0.00034
NM_015214.3(DDHD2):c.1720+6T>A rs189360898 0.00034
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673 0.00034
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu) rs200924194 0.00034
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_025137.4(SPG11):c.4413T>C (p.Ser1471=) rs1308576264 0.00034
NM_001368809.2(AMPD2):c.1080+15C>T rs183445342 0.00033
NM_001368809.2(AMPD2):c.532-18G>A rs41314005 0.00032
NM_002361.4(MAG):c.855C>T (p.Ala285=) rs199720385 0.00032
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=) rs150472102 0.00032
NM_002860.4(ALDH18A1):c.933+13T>C rs201520042 0.00032
NM_014844.5(TECPR2):c.1546G>A (p.Val516Met) rs141697267 0.00032
NM_014844.5(TECPR2):c.3386C>A (p.Ser1129Tyr) rs139247564 0.00032
NM_025137.4(SPG11):c.257+13G>A rs201936649 0.00032
NM_025137.4(SPG11):c.257+15A>C rs538988623 0.00032
NM_001368809.2(AMPD2):c.2124C>T (p.Ser708=) rs147146700 0.00031
NM_002361.4(MAG):c.18A>G (p.Ala6=) rs147354231 0.00031
NM_006612.6(KIF1C):c.1136C>G (p.Ala379Gly) rs79290524 0.00031
NM_006612.6(KIF1C):c.3049G>A (p.Ala1017Thr) rs185185243 0.00031
NM_014844.5(TECPR2):c.3294C>T (p.His1098=) rs144141409 0.00031
NM_014844.5(TECPR2):c.951+15G>T rs12587242 0.00031
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=) rs148970081 0.00031
NM_022089.4(ATP13A2):c.3207G>A (p.Ala1069=) rs137877665 0.00031
NM_006612.6(KIF1C):c.1165+3C>T rs199890307 0.00030
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=) rs199994961 0.00030
NM_006612.6(KIF1C):c.3198A>G (p.Gln1066=) rs143972053 0.00029
NM_014844.5(TECPR2):c.2021C>T (p.Pro674Leu) rs149022686 0.00029
NM_014844.5(TECPR2):c.2323G>A (p.Gly775Arg) rs138725425 0.00029
NM_015214.3(DDHD2):c.558G>A (p.Thr186=) rs149994413 0.00029
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln) rs190746040 0.00029
NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln) rs138546275 0.00029
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu) rs373796566 0.00029
NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile) rs150912414 0.00029
NM_001010867.4(IBA57):c.680-14T>G rs375942905 0.00028
NM_001010867.4(IBA57):c.23G>A (p.Arg8Gln) rs765179856 0.00027
NM_001166114.2(PNPLA6):c.316-18C>T rs530792429 0.00027
NM_001776.6(ENTPD1):c.1075-15G>A rs373805682 0.00027
NM_006612.6(KIF1C):c.1571+6G>A rs200438845 0.00027
NM_015214.3(DDHD2):c.1982A>G (p.Tyr661Cys) rs201656753 0.00027
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859 0.00027
NM_001166114.2(PNPLA6):c.1536C>T (p.Pro512=) rs140389368 0.00026
NM_001166114.2(PNPLA6):c.3699+17G>A rs141831508 0.00026
NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys) rs570605098 0.00026
NM_006612.6(KIF1C):c.3005C>T (p.Pro1002Leu) rs143987985 0.00026
NM_014844.5(TECPR2):c.2449G>A (p.Val817Met) rs199738023 0.00026
NM_014844.5(TECPR2):c.978C>T (p.Ser326=) rs142082203 0.00026
NM_022089.4(ATP13A2):c.2610-9T>C rs376189607 0.00026
NM_025137.4(SPG11):c.2445-20A>T rs545137154 0.00026
NM_025137.4(SPG11):c.2560G>A (p.Ala854Thr) rs144804884 0.00026
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_025137.4(SPG11):c.6284T>C (p.Leu2095Ser) rs185665930 0.00026
NM_001010867.4(IBA57):c.279C>G (p.Arg93=) rs750061256 0.00025
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser) rs752487771 0.00025
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg) rs113643181 0.00025
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu) rs375363608 0.00025
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val) rs147962000 0.00025
NM_001166114.2(PNPLA6):c.3699+9G>A rs201144113 0.00024
NM_001368809.2(AMPD2):c.1326T>C (p.Pro442=) rs371970036 0.00024
NM_002860.4(ALDH18A1):c.1153-13A>G rs370680325 0.00024
NM_002860.4(ALDH18A1):c.76G>A (p.Val26Ile) rs200242907 0.00024
NM_014844.5(TECPR2):c.1677T>C (p.Ser559=) rs375017422 0.00024
NM_014844.5(TECPR2):c.3831C>T (p.Asn1277=) rs200792120 0.00024
NM_014844.5(TECPR2):c.672A>G (p.Gly224=) rs138689342 0.00024
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=) rs377253172 0.00024
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=) rs377703085 0.00024
NM_025137.4(SPG11):c.1457-20A>C rs376343587 0.00024
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu) rs148175530 0.00024
NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=) rs553088930 0.00023
NM_002361.4(MAG):c.1344G>A (p.Ser448=) rs149838575 0.00023
NM_014844.5(TECPR2):c.3246G>C (p.Gly1082=) rs373876214 0.00023
NM_014844.5(TECPR2):c.4035C>T (p.Ala1345=) rs376614211 0.00023
NM_015214.3(DDHD2):c.502-9C>T rs375704564 0.00023
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) rs201883464 0.00023
NM_025137.4(SPG11):c.1670A>G (p.Asn557Ser) rs372263107 0.00023
NM_031448.6(C19orf12):c.161-18C>T rs113947435 0.00023
NM_152415.3(VPS37A):c.430C>A (p.Pro144Thr) rs373775451 0.00023
NM_001166114.2(PNPLA6):c.1056C>T (p.Thr352=) rs759971785 0.00022
NM_001351169.2(NT5C2):c.634-14T>G rs200522283 0.00022
NM_002361.4(MAG):c.1117A>C (p.Ser373Arg) rs142375870 0.00022
NM_002361.4(MAG):c.600A>T (p.Ser200=) rs200695849 0.00022
NM_002860.4(ALDH18A1):c.1253T>A (p.Leu418His) rs201069261 0.00022
NM_006612.6(KIF1C):c.184-8T>C rs192384276 0.00022
NM_006612.6(KIF1C):c.18G>A (p.Val6=) rs148361794 0.00022
NM_006612.6(KIF1C):c.2481G>A (p.Gly827=) rs146679209 0.00022
NM_012073.5(CCT5):c.86T>C (p.Met29Thr) rs141133834 0.00022
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val) rs200220848 0.00022
NM_152415.3(VPS37A):c.99C>A (p.Ile33=) rs373895020 0.00022
NM_001368809.2(AMPD2):c.1846T>C (p.Leu616=) rs757521991 0.00021
NM_002361.4(MAG):c.1011C>T (p.Ala337=) rs149315719 0.00021
NM_002860.4(ALDH18A1):c.37T>A (p.Phe13Ile) rs376664715 0.00021
NM_006070.6(TFG):c.988A>G (p.Thr330Ala) rs145835282 0.00021
NM_012073.5(CCT5):c.1425C>T (p.Thr475=) rs370529963 0.00021
NM_014844.5(TECPR2):c.2280C>T (p.His760=) rs61744796 0.00021
NM_015214.3(DDHD2):c.411+6C>T rs562827417 0.00021
NM_022089.4(ATP13A2):c.2043A>G (p.Thr681=) rs143828547 0.00021
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=) rs61741838 0.00021
NM_025137.4(SPG11):c.28G>A (p.Ala10Thr) rs372658867 0.00021
NM_152415.3(VPS37A):c.418C>T (p.Leu140=) rs143689645 0.00021
NM_001166114.2(PNPLA6):c.4024-13C>T rs78093267 0.00020
NM_001368809.2(AMPD2):c.2268+10C>T rs368736094 0.00020
NM_002860.4(ALDH18A1):c.96C>A (p.Ile32=) rs11541779 0.00020
NM_014844.5(TECPR2):c.3492G>A (p.Gln1164=) rs143960870 0.00020
NM_022089.4(ATP13A2):c.2685G>A (p.Leu895=) rs138437271 0.00020
NM_025137.4(SPG11):c.2265A>G (p.Gln755=) rs142909555 0.00020
NM_025137.4(SPG11):c.5121+12C>G rs199766848 0.00020
NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu) rs142734560 0.00019
NM_001166114.2(PNPLA6):c.1343C>G (p.Ser448Cys) rs144028775 0.00019
NM_001166114.2(PNPLA6):c.2818-4C>T rs533705093 0.00019
NM_001166114.2(PNPLA6):c.2937-15C>A rs377252767 0.00019
NM_001351169.2(NT5C2):c.540-4G>A rs201261415 0.00019
NM_002361.4(MAG):c.1103C>T (p.Thr368Met) rs144554089 0.00019
NM_002361.4(MAG):c.633C>T (p.Asn211=) rs373301414 0.00019
NM_014844.5(TECPR2):c.3108G>A (p.Gln1036=) rs140351132 0.00019
NM_015161.3(ARL6IP1):c.490A>C (p.Ile164Leu) rs200377377 0.00019
NM_015214.3(DDHD2):c.1345G>T (p.Gly449Cys) rs199730711 0.00019
NM_025137.4(SPG11):c.2897G>A (p.Arg966His) rs200281262 0.00019
NM_025137.4(SPG11):c.3521-16T>A rs770282369 0.00019
NM_025137.4(SPG11):c.5796T>C (p.His1932=) rs375350193 0.00019
NM_025137.4(SPG11):c.6786A>G (p.Lys2262=) rs147076862 0.00019
NM_001166114.2(PNPLA6):c.3397+6T>C rs764082245 0.00018
NM_001166114.2(PNPLA6):c.714+6T>G rs368637145 0.00018
NM_006070.6(TFG):c.234T>A (p.Ile78=) rs147546544 0.00018
NM_006612.6(KIF1C):c.3088C>T (p.Arg1030Cys) rs62072492 0.00018
NM_022089.4(ATP13A2):c.1543-9C>T rs563459900 0.00018
NM_025137.4(SPG11):c.382A>G (p.Thr128Ala) rs138969879 0.00018
NM_001010867.4(IBA57):c.204C>T (p.Pro68=) rs376235022 0.00017
NM_001166114.2(PNPLA6):c.1048A>G (p.Thr350Ala) rs367652625 0.00017
NM_001166114.2(PNPLA6):c.3094-14C>T rs373699449 0.00017
NM_001166114.2(PNPLA6):c.708A>G (p.Pro236=) rs762180901 0.00017
NM_001776.6(ENTPD1):c.424G>C (p.Glu142Gln) rs148809600 0.00017
NM_002361.4(MAG):c.1404C>G (p.Leu468=) rs146550254 0.00017
NM_006070.6(TFG):c.849A>G (p.Gln283=) rs148835012 0.00017
NM_014844.5(TECPR2):c.2807C>T (p.Pro936Leu) rs373173535 0.00017
NM_014844.5(TECPR2):c.3548C>T (p.Ala1183Val) rs146196522 0.00017
NM_015214.3(DDHD2):c.1575C>T (p.Tyr525=) rs139004425 0.00017
NM_022089.4(ATP13A2):c.1353+8T>C rs369680614 0.00017
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe) rs371716779 0.00017
NM_025137.4(SPG11):c.667+5C>T rs375485062 0.00017
NM_001166114.2(PNPLA6):c.1488C>T (p.Phe496=) rs151146154 0.00016
NM_001166114.2(PNPLA6):c.3398-15C>A rs370069081 0.00016
NM_001166114.2(PNPLA6):c.714+7G>A rs371188270 0.00016
NM_001368809.2(AMPD2):c.219C>T (p.Ala73=) rs140683735 0.00016
NM_001368809.2(AMPD2):c.582C>T (p.Leu194=) rs144177097 0.00016
NM_001776.6(ENTPD1):c.1479C>G (p.Ile493Met) rs146889178 0.00016
NM_002361.4(MAG):c.1405G>C (p.Val469Leu) rs200754835 0.00016
NM_006612.6(KIF1C):c.1065C>T (p.Asn355=) rs576640333 0.00016
NM_006612.6(KIF1C):c.1197C>T (p.Gly399=) rs142811879 0.00016
NM_006612.6(KIF1C):c.1563C>T (p.Gly521=) rs376123205 0.00016
NM_022089.4(ATP13A2):c.2592C>T (p.Cys864=) rs777472886 0.00016
NM_025137.4(SPG11):c.1171A>G (p.Ile391Val) rs145958193 0.00016
NM_025137.4(SPG11):c.1433A>G (p.Gln478Arg) rs142428867 0.00016
NM_025137.4(SPG11):c.2169C>T (p.Gly723=) rs371338650 0.00016
NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser) rs747973076 0.00016
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His) rs150823040 0.00016
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys) rs199920965 0.00016
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln) rs201721414 0.00016
NM_025137.4(SPG11):c.979C>G (p.Leu327Val) rs146109825 0.00016
NM_152415.3(VPS37A):c.918G>A (p.Gln306=) rs370931373 0.00016
NM_001166114.2(PNPLA6):c.1275C>T (p.Ser425=) rs759189905 0.00015
NM_001166114.2(PNPLA6):c.2922C>A (p.Gly974=) rs767028461 0.00015
NM_001166114.2(PNPLA6):c.3428C>T (p.Thr1143Met) rs142294971 0.00015
NM_001351169.2(NT5C2):c.1665G>T (p.Glu555Asp) rs141031435 0.00015
NM_001368809.2(AMPD2):c.912C>T (p.Asp304=) rs141396033 0.00015
NM_001776.6(ENTPD1):c.972A>G (p.Gln324=) rs376745066 0.00015
NM_002361.4(MAG):c.1314G>A (p.Pro438=) rs111518896 0.00015
NM_002361.4(MAG):c.971-5C>T rs200576970 0.00015
NM_002860.4(ALDH18A1):c.148A>G (p.Thr50Ala) rs374047257 0.00015
NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp) rs142616130 0.00015
NM_022089.4(ATP13A2):c.3327G>A (p.Arg1109=) rs112261486 0.00015
NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys) rs144403346 0.00015
NM_025137.4(SPG11):c.3520+20T>G rs376883385 0.00015
NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr) rs141011688 0.00015
NM_001166114.2(PNPLA6):c.1398C>T (p.Gly466=) rs146463717 0.00014
NM_001166114.2(PNPLA6):c.3997G>A (p.Ala1333Thr) rs143280550 0.00014
NM_001351169.2(NT5C2):c.201C>T (p.Ser67=) rs139949315 0.00014
NM_001351169.2(NT5C2):c.813+19T>C rs201832517 0.00014
NM_001368809.2(AMPD2):c.1207C>T (p.Arg403Trp) rs373128067 0.00014
NM_001368809.2(AMPD2):c.1778C>T (p.Ala593Val) rs376516473 0.00014
NM_001776.6(ENTPD1):c.441G>C (p.Arg147Ser) rs142431233 0.00014
NM_001776.6(ENTPD1):c.834C>T (p.Leu278=) rs780370619 0.00014
NM_002361.4(MAG):c.957G>C (p.Gly319=) rs200319885 0.00014
NM_002860.4(ALDH18A1):c.1376G>A (p.Arg459Gln) rs771386671 0.00014
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly) rs143874727 0.00014
NM_002860.4(ALDH18A1):c.959A>G (p.Gln320Arg) rs143635402 0.00014
NM_002860.4(ALDH18A1):c.986A>G (p.Asn329Ser) rs141291042 0.00014
NM_006612.6(KIF1C):c.2591G>A (p.Arg864His) rs146628704 0.00014
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn) rs550136320 0.00014
NM_006612.6(KIF1C):c.3128C>T (p.Ala1043Val) rs373541138 0.00014
NM_012073.5(CCT5):c.1161T>C (p.Ile387=) rs377234917 0.00014
NM_014844.5(TECPR2):c.2671C>T (p.Leu891=) rs142569475 0.00014
NM_014844.5(TECPR2):c.2966C>T (p.Thr989Met) rs140963558 0.00014
NM_014844.5(TECPR2):c.622A>G (p.Thr208Ala) rs536338550 0.00014
NM_015214.3(DDHD2):c.393C>G (p.Ser131Arg) rs201121892 0.00014
NM_015214.3(DDHD2):c.899C>T (p.Thr300Ile) rs200249745 0.00014
NM_015214.3(DDHD2):c.930C>T (p.Tyr310=) rs200317856 0.00014
NM_022089.4(ATP13A2):c.106-5C>T rs117838709 0.00014
NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=) rs750600448 0.00014
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys) rs201610681 0.00014
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly) rs182080501 0.00014
NM_025137.4(SPG11):c.4308A>G (p.Gln1436=) rs374059020 0.00014
NM_025137.4(SPG11):c.4410C>T (p.Leu1470=) rs145579121 0.00014
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp) rs151317653 0.00014
NM_025137.4(SPG11):c.7039T>G (p.Trp2347Gly) rs146816632 0.00014
NM_031448.6(C19orf12):c.121G>A (p.Val41Ile) rs148797643 0.00014
NM_031448.6(C19orf12):c.305C>T (p.Thr102Met) rs139585199 0.00014
NM_152415.3(VPS37A):c.416+17T>C rs375167006 0.00014
NM_001166114.2(PNPLA6):c.1096G>C (p.Ala366Pro) rs533164657 0.00013
NM_001166114.2(PNPLA6):c.1335C>T (p.Ser445=) rs201130683 0.00013
NM_001166114.2(PNPLA6):c.3712C>G (p.Gln1238Glu) rs143072391 0.00013
NM_001166114.2(PNPLA6):c.3951C>T (p.Asp1317=) rs369490282 0.00013
NM_002361.4(MAG):c.1120G>A (p.Glu374Lys) rs201059845 0.00013
NM_002361.4(MAG):c.216G>C (p.Val72=) rs200631477 0.00013
NM_002361.4(MAG):c.940G>T (p.Asp314Tyr) rs202087211 0.00013
NM_006612.6(KIF1C):c.701C>T (p.Thr234Met) rs201655443 0.00013
NM_012073.5(CCT5):c.1519A>G (p.Ile507Val) rs138168151 0.00013
NM_014844.5(TECPR2):c.1248C>T (p.Thr416=) rs144313788 0.00013
NM_014844.5(TECPR2):c.3466G>A (p.Ala1156Thr) rs200844941 0.00013
NM_014844.5(TECPR2):c.3602C>T (p.Thr1201Met) rs377706262 0.00013
NM_014844.5(TECPR2):c.3640+11C>T rs372780270 0.00013
NM_014844.5(TECPR2):c.53A>G (p.Tyr18Cys) rs150645913 0.00013
NM_022089.4(ATP13A2):c.1080G>C (p.Gly360=) rs55943100 0.00013
NM_022089.4(ATP13A2):c.1196-14C>T rs200896109 0.00013
NM_022089.4(ATP13A2):c.1975C>T (p.Leu659=) rs755284799 0.00013
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser) rs202166353 0.00013
NM_022089.4(ATP13A2):c.3235+13G>A rs369278996 0.00013
NM_025137.4(SPG11):c.2075T>C (p.Ile692Thr) rs144012151 0.00013
NM_025137.4(SPG11):c.2245-13A>G rs200426807 0.00013
NM_025137.4(SPG11):c.3311A>T (p.Asn1104Ile) rs140247471 0.00013
NM_025137.4(SPG11):c.5461A>C (p.Arg1821=) rs142526742 0.00013
NM_025137.4(SPG11):c.5764G>C (p.Ala1922Pro) rs147999915 0.00013
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro) rs376103979 0.00013
NM_001010867.4(IBA57):c.801C>T (p.Ala267=) rs138699407 0.00012
NM_001166114.2(PNPLA6):c.1222C>T (p.Arg408Cys) rs998008899 0.00012
NM_001166114.2(PNPLA6):c.2381A>G (p.Gln794Arg) rs138366337 0.00012
NM_001166114.2(PNPLA6):c.4024-19G>C rs377319496 0.00012
NM_002361.4(MAG):c.1274G>A (p.Arg425Gln) rs144213585 0.00012
NM_006612.6(KIF1C):c.106+14C>T rs747550794 0.00012
NM_006612.6(KIF1C):c.2006G>A (p.Arg669Gln) rs566736417 0.00012
NM_006612.6(KIF1C):c.3217C>T (p.Pro1073Ser) rs199966544 0.00012
NM_014844.5(TECPR2):c.3797G>T (p.Gly1266Val) rs201704673 0.00012
NM_014844.5(TECPR2):c.4014C>T (p.Gly1338=) rs372319066 0.00012
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile) rs113105667 0.00012
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn) rs369863178 0.00012
NM_022089.4(ATP13A2):c.192C>T (p.Leu64=) rs576096315 0.00012
NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser) rs758675397 0.00012
NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu) rs752619582 0.00012
NM_025137.4(SPG11):c.1126A>G (p.Asn376Asp) rs199765540 0.00012
NM_025137.4(SPG11):c.256C>G (p.His86Asp) rs773123413 0.00012
NM_025137.4(SPG11):c.45T>C (p.Gly15=) rs371828554 0.00012
NM_025137.4(SPG11):c.6307A>G (p.Lys2103Glu) rs1199605323 0.00012
NM_001166114.2(PNPLA6):c.1680C>T (p.Asp560=) rs761103593 0.00011
NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala) rs201902695 0.00011
NM_001166114.2(PNPLA6):c.3691C>G (p.Gln1231Glu) rs375024068 0.00011
NM_001166114.2(PNPLA6):c.4077C>T (p.Pro1359=) rs143060121 0.00011
NM_001166114.2(PNPLA6):c.555-13G>A rs201099946 0.00011
NM_001351169.2(NT5C2):c.1139A>G (p.His380Arg) rs138513368 0.00011
NM_001368809.2(AMPD2):c.27C>A (p.Gly9=) rs141792341 0.00011
NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe) rs763310916 0.00011
NM_002361.4(MAG):c.1140G>A (p.Pro380=) rs200135379 0.00011
NM_002361.4(MAG):c.1292T>A (p.Leu431Gln) rs199969989 0.00011
NM_002361.4(MAG):c.1562T>G (p.Val521Gly) rs200859403 0.00011
NM_002361.4(MAG):c.1813C>T (p.Arg605Trp) rs73031735 0.00011
NM_002860.4(ALDH18A1):c.1152+8_1152+9del rs373488364 0.00011
NM_002860.4(ALDH18A1):c.1946A>G (p.Lys649Arg) rs145197911 0.00011
NM_006070.6(TFG):c.256C>G (p.Leu86Val) rs140174542 0.00011
NM_006070.6(TFG):c.395C>A (p.Ser132Tyr) rs780219953 0.00011
NM_006070.6(TFG):c.672A>G (p.Pro224=) rs141412018 0.00011
NM_006612.6(KIF1C):c.3122G>A (p.Arg1041Gln) rs201887996 0.00011
NM_006612.6(KIF1C):c.3272G>A (p.Arg1091His) rs201800868 0.00011
NM_006612.6(KIF1C):c.941-17A>T rs202231042 0.00011
NM_012073.5(CCT5):c.531-3C>T rs555534209 0.00011
NM_014844.5(TECPR2):c.1125C>T (p.Val375=) rs144187959 0.00011
NM_014844.5(TECPR2):c.2370C>T (p.Asp790=) rs775511129 0.00011
NM_014844.5(TECPR2):c.3790-8G>A rs772801372 0.00011
NM_014844.5(TECPR2):c.3882C>T (p.Thr1294=) rs145556234 0.00011
NM_014844.5(TECPR2):c.4161G>A (p.Ser1387=) rs150885756 0.00011
NM_014844.5(TECPR2):c.714C>T (p.Pro238=) rs141078176 0.00011
NM_014844.5(TECPR2):c.818G>A (p.Arg273His) rs144069125 0.00011
NM_014844.5(TECPR2):c.846C>T (p.Cys282=) rs201691545 0.00011
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=) rs368279466 0.00011
NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=) rs536306337 0.00011
NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=) rs752208167 0.00011
NM_022089.4(ATP13A2):c.252C>T (p.His84=) rs554944790 0.00011
NM_022089.4(ATP13A2):c.2593G>A (p.Glu865Lys) rs148534162 0.00011
NM_022089.4(ATP13A2):c.2655C>T (p.Ala885=) rs371975975 0.00011
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys) rs370421723 0.00011
NM_025137.4(SPG11):c.1562A>G (p.Asn521Ser) rs143528472 0.00011
NM_025137.4(SPG11):c.1869G>A (p.Lys623=) rs374873830 0.00011
NM_025137.4(SPG11):c.3146-18C>T rs540613714 0.00011
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp) rs139498464 0.00011
NM_025137.4(SPG11):c.3549T>G (p.Ser1183=) rs751428578 0.00011
NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu) rs201902382 0.00011
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_025137.4(SPG11):c.44G>A (p.Gly15Asp) rs763155228 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_031448.6(C19orf12):c.234G>A (p.Met78Ile) rs778586471 0.00011
NM_001010867.4(IBA57):c.1032C>T (p.Ala344=) rs371687353 0.00010
NM_001166114.2(PNPLA6):c.1357G>A (p.Ala453Thr) rs761591000 0.00010
NM_001166114.2(PNPLA6):c.796-11C>T rs758381371 0.00010
NM_001351169.2(NT5C2):c.942T>C (p.Ile314=) rs144333777 0.00010
NM_001368809.2(AMPD2):c.1080+9T>C rs202160763 0.00010
NM_001368809.2(AMPD2):c.174G>A (p.Pro58=) rs760164880 0.00010
NM_001776.6(ENTPD1):c.920T>A (p.Met307Lys) rs373236811 0.00010
NM_002361.4(MAG):c.47-10T>G rs776468293 0.00010
NM_002361.4(MAG):c.681G>A (p.Gln227=) rs201129547 0.00010
NM_002860.4(ALDH18A1):c.219C>T (p.Ile73=) rs148228931 0.00010
NM_002860.4(ALDH18A1):c.4T>C (p.Leu2=) rs755446179 0.00010
NM_002860.4(ALDH18A1):c.589G>C (p.Glu197Gln) rs201691969 0.00010
NM_006612.6(KIF1C):c.339A>G (p.Pro113=) rs142773987 0.00010
NM_006612.6(KIF1C):c.447C>T (p.Ile149=) rs767820925 0.00010
NM_012073.5(CCT5):c.1132A>G (p.Lys378Glu) rs773314762 0.00010
NM_014844.5(TECPR2):c.2900C>T (p.Pro967Leu) rs140434256 0.00010
NM_014844.5(TECPR2):c.3990C>T (p.Asn1330=) rs757779692 0.00010
NM_015214.3(DDHD2):c.1058-13A>G rs371362810 0.00010
NM_015214.3(DDHD2):c.1125+20A>C rs370899112 0.00010
NM_022089.4(ATP13A2):c.2709C>G (p.Val903=) rs145455452 0.00010
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg) rs148094721 0.00010
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys) rs538497077 0.00010
NM_025137.4(SPG11):c.5608T>C (p.Leu1870=) rs4254299 0.00010
NM_025137.4(SPG11):c.6477+18C>T rs770736243 0.00010
NM_001166114.2(PNPLA6):c.1205C>T (p.Ser402Leu) rs372193709 0.00009
NM_001166114.2(PNPLA6):c.3181C>T (p.His1061Tyr) rs753273617 0.00009
NM_001166114.2(PNPLA6):c.3724G>A (p.Ala1242Thr) rs755872517 0.00009
NM_001166114.2(PNPLA6):c.648G>A (p.Pro216=) rs566213812 0.00009
NM_001351169.2(NT5C2):c.141G>C (p.Lys47Asn) rs72846108 0.00009
NM_001776.6(ENTPD1):c.1190T>C (p.Ile397Thr) rs142591047 0.00009
NM_001776.6(ENTPD1):c.229G>A (p.Val77Met) rs199915134 0.00009
NM_002361.4(MAG):c.325C>A (p.Pro109Thr) rs746889149 0.00009
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val) rs142712849 0.00009
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_002860.4(ALDH18A1):c.194G>T (p.Ser65Ile) rs142746793 0.00009
NM_006612.6(KIF1C):c.1310C>T (p.Pro437Leu) rs148619121 0.00009
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg) rs142046798 0.00009
NM_006612.6(KIF1C):c.1365C>T (p.Asn455=) rs142825776 0.00009
NM_006612.6(KIF1C):c.2676G>A (p.Pro892=) rs200822779 0.00009
NM_006612.6(KIF1C):c.568G>A (p.Ala190Thr) rs752855724 0.00009
NM_012073.5(CCT5):c.753C>T (p.Leu251=) rs755384536 0.00009
NM_014844.5(TECPR2):c.1128C>T (p.His376=) rs146157601 0.00009
NM_014844.5(TECPR2):c.1173G>A (p.Thr391=) rs747637703 0.00009
NM_014844.5(TECPR2):c.1477C>T (p.Pro493Ser) rs150165045 0.00009
NM_014844.5(TECPR2):c.1784C>T (p.Thr595Met) rs150893437 0.00009
NM_014844.5(TECPR2):c.1926C>T (p.Val642=) rs770279871 0.00009
NM_014844.5(TECPR2):c.318T>C (p.Leu106=) rs769086551 0.00009
NM_014844.5(TECPR2):c.3582G>A (p.Thr1194=) rs372271880 0.00009
NM_014844.5(TECPR2):c.67A>G (p.Ile23Val) rs776524033 0.00009
NM_015214.3(DDHD2):c.1382C>T (p.Ala461Val) rs201386329 0.00009
NM_015214.3(DDHD2):c.1744A>T (p.Met582Leu) rs375064450 0.00009
NM_015214.3(DDHD2):c.1834T>G (p.Ser612Ala) rs142193606 0.00009
NM_015214.3(DDHD2):c.1873A>C (p.Thr625Pro) rs369779587 0.00009
NM_015214.3(DDHD2):c.277T>C (p.Leu93=) rs544728429 0.00009
NM_022089.4(ATP13A2):c.233G>A (p.Arg78Gln) rs773087322 0.00009
NM_022089.4(ATP13A2):c.255C>T (p.Ala85=) rs369906056 0.00009
NM_022089.4(ATP13A2):c.2771G>A (p.Arg924His) rs564643512 0.00009
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu) rs372995036 0.00009
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met) rs151117874 0.00009
NM_022089.4(ATP13A2):c.396G>A (p.Ala132=) rs140631323 0.00009
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_022089.4(ATP13A2):c.588C>T (p.Asp196=) rs147384248 0.00009
NM_022089.4(ATP13A2):c.635+15G>A rs563778719 0.00009
NM_022089.4(ATP13A2):c.880C>T (p.Arg294Trp) rs144898239 0.00009
NM_025137.4(SPG11):c.1457-4A>G rs773844127 0.00009
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser) rs201271196 0.00009
NM_025137.4(SPG11):c.377A>G (p.Asp126Gly) rs142097614 0.00009
NM_025137.4(SPG11):c.425T>C (p.Ile142Thr) rs1428358542 0.00009
NM_025137.4(SPG11):c.4274A>G (p.Asn1425Ser) rs142567993 0.00009
NM_025137.4(SPG11):c.4882G>C (p.Glu1628Gln) rs763204091 0.00009
NM_025137.4(SPG11):c.6278G>A (p.Arg2093His) rs376817637 0.00009
NM_025137.4(SPG11):c.6950G>A (p.Gly2317Asp) rs79186522 0.00009
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu) rs150571352 0.00009
NM_152415.3(VPS37A):c.297C>G (p.Thr99=) rs373508118 0.00009
NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg) rs1026408197 0.00008
NM_001010867.4(IBA57):c.680-5T>A rs577050962 0.00008
NM_001166114.2(PNPLA6):c.414-14T>C rs953147743 0.00008
NM_001368809.2(AMPD2):c.726G>A (p.Pro242=) rs199980707 0.00008
NM_002361.4(MAG):c.1394G>A (p.Arg465His) rs147583558 0.00008
NM_002860.4(ALDH18A1):c.678C>T (p.Val226=) rs772829720 0.00008
NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg) rs368147360 0.00008
NM_006070.6(TFG):c.185-9A>T rs778438842 0.00008
NM_006612.6(KIF1C):c.1353A>G (p.Ile451Met) rs374100485 0.00008
NM_006612.6(KIF1C):c.1605C>T (p.Thr535=) rs145893640 0.00008
NM_006612.6(KIF1C):c.3302del (p.Ala1101fs) rs375445356 0.00008
NM_006612.6(KIF1C):c.500G>A (p.Arg167Gln) rs199962814 0.00008
NM_006612.6(KIF1C):c.765C>T (p.Ala255=) rs755969023 0.00008
NM_012073.5(CCT5):c.1180-4T>C rs751954199 0.00008
NM_012073.5(CCT5):c.424C>T (p.Arg142Cys) rs572671693 0.00008
NM_014844.5(TECPR2):c.1319del (p.Leu440fs) rs750908377 0.00008
NM_014844.5(TECPR2):c.1741C>T (p.Leu581=) rs759035233 0.00008
NM_014844.5(TECPR2):c.2307G>A (p.Thr769=) rs368168319 0.00008
NM_014844.5(TECPR2):c.3873C>T (p.His1291=) rs377631259 0.00008
NM_015214.3(DDHD2):c.1386C>T (p.Asn462=) rs137874590 0.00008
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu) rs566918264 0.00008
NM_022089.4(ATP13A2):c.1629T>A (p.Pro543=) rs369352100 0.00008
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr) rs147277743 0.00008
NM_022089.4(ATP13A2):c.2951C>T (p.Ala984Val) rs375552345 0.00008
NM_022089.4(ATP13A2):c.3320C>T (p.Ala1107Val) rs755307953 0.00008
NM_025137.4(SPG11):c.1515C>G (p.Leu505=) rs148556593 0.00008
NM_025137.4(SPG11):c.1602+10T>G rs201535432 0.00008
NM_025137.4(SPG11):c.2621-18G>T rs192547979 0.00008
NM_025137.4(SPG11):c.4093T>C (p.Cys1365Arg) rs144695607 0.00008
NM_025137.4(SPG11):c.4260C>T (p.Ser1420=) rs150130615 0.00008
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys) rs372419484 0.00008
NM_025137.4(SPG11):c.5966A>G (p.Asn1989Ser) rs375896392 0.00008
NM_025137.4(SPG11):c.6205+12C>G rs373329133 0.00008
NM_001010867.4(IBA57):c.150C>T (p.Cys50=) rs765132163 0.00007
NM_001010867.4(IBA57):c.748A>G (p.Met250Val) rs370640121 0.00007
NM_001166114.2(PNPLA6):c.1270C>T (p.Arg424Cys) rs763561590 0.00007
NM_001166114.2(PNPLA6):c.1608+10_1608+15del rs766997730 0.00007
NM_001166114.2(PNPLA6):c.217A>G (p.Arg73Gly) rs781291417 0.00007
NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=) rs367675784 0.00007
NM_001166114.2(PNPLA6):c.492C>T (p.Thr164=) rs778359563 0.00007
NM_002361.4(MAG):c.1231+13C>T rs201779990 0.00007
NM_002361.4(MAG):c.685G>C (p.Glu229Gln) rs202166521 0.00007
NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln) rs200452017 0.00007
NM_002860.4(ALDH18A1):c.2110+13A>G rs375782465 0.00007
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile) rs192770256 0.00007
NM_006070.6(TFG):c.581-6A>C rs369615915 0.00007
NM_006612.6(KIF1C):c.1292C>T (p.Thr431Met) rs139663513 0.00007
NM_006612.6(KIF1C):c.2366C>T (p.Pro789Leu) rs377528420 0.00007
NM_006612.6(KIF1C):c.363+5G>A rs371500484 0.00007
NM_014844.5(TECPR2):c.1255G>A (p.Gly419Ser) rs779431365 0.00007
NM_014844.5(TECPR2):c.2250G>A (p.Thr750=) rs182655288 0.00007
NM_014844.5(TECPR2):c.3087G>A (p.Thr1029=) rs374084038 0.00007
NM_014844.5(TECPR2):c.3991G>A (p.Gly1331Arg) rs143705801 0.00007
NM_014844.5(TECPR2):c.4081+10C>T rs745954864 0.00007
NM_015214.3(DDHD2):c.21A>G (p.Gln7=) rs182341575 0.00007
NM_015214.3(DDHD2):c.566G>T (p.Gly189Val) rs776830636 0.00007
NM_015214.3(DDHD2):c.628C>A (p.Pro210Thr) rs376771682 0.00007
NM_022089.4(ATP13A2):c.1658G>A (p.Arg553Gln) rs376011760 0.00007
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His) rs367745335 0.00007
NM_022089.4(ATP13A2):c.2326G>C (p.Val776Leu) rs56170027 0.00007
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) rs377431904 0.00007
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=) rs756650754 0.00007
NM_022089.4(ATP13A2):c.3409G>A (p.Val1137Met) rs528943677 0.00007
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His) rs544885605 0.00007
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys) rs771312962 0.00007
NM_022089.4(ATP13A2):c.528C>T (p.Ile176=) rs371992028 0.00007
NM_025137.4(SPG11):c.10G>A (p.Glu4Lys) rs765163502 0.00007
NM_025137.4(SPG11):c.1801C>A (p.Pro601Thr) rs775799559 0.00007
NM_025137.4(SPG11):c.2012A>G (p.His671Arg) rs189306815 0.00007
NM_025137.4(SPG11):c.3038+14A>G rs774593393 0.00007
NM_025137.4(SPG11):c.31G>C (p.Ala11Pro) rs529316227 0.00007
NM_025137.4(SPG11):c.3648G>A (p.Leu1216=) rs370282739 0.00007
NM_025137.4(SPG11):c.5770A>G (p.Met1924Val) rs949342628 0.00007
NM_025137.4(SPG11):c.6193T>C (p.Ser2065Pro) rs568406743 0.00007
NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln) rs200283964 0.00007
NM_025137.4(SPG11):c.6699G>A (p.Glu2233=) rs778848426 0.00007
NM_025137.4(SPG11):c.841G>T (p.Val281Phe) rs754144151 0.00007
NM_025137.4(SPG11):c.869+20T>C rs372186278 0.00007
NM_152415.3(VPS37A):c.96G>C (p.Leu32=) rs199577037 0.00007
NM_001010867.4(IBA57):c.162C>T (p.Asp54=) rs762720562 0.00006
NM_001010867.4(IBA57):c.342-14C>T rs368178420 0.00006
NM_001010867.4(IBA57):c.679+3A>G rs754620334 0.00006
NM_001010867.4(IBA57):c.947A>C (p.Asn316Thr) rs200319163 0.00006
NM_001166114.2(PNPLA6):c.1039G>A (p.Gly347Ser) rs760573469 0.00006
NM_001166114.2(PNPLA6):c.1228G>A (p.Val410Ile) rs369465821 0.00006
NM_001166114.2(PNPLA6):c.1312G>A (p.Val438Met) rs752915572 0.00006
NM_001166114.2(PNPLA6):c.1609-6G>T rs754967176 0.00006
NM_001166114.2(PNPLA6):c.1980G>T (p.Val660=) rs142204241 0.00006
NM_001166114.2(PNPLA6):c.240A>C (p.Pro80=) rs143530297 0.00006
NM_001166114.2(PNPLA6):c.2712C>T (p.Gly904=) rs748031664 0.00006
NM_001166114.2(PNPLA6):c.315+8C>T rs1041357827 0.00006
NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=) rs35770729 0.00006
NM_001166114.2(PNPLA6):c.3634G>A (p.Glu1212Lys) rs138454923 0.00006
NM_001166114.2(PNPLA6):c.3717C>T (p.Tyr1239=) rs748211267 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001351169.2(NT5C2):c.1089G>A (p.Arg363=) rs370299413 0.00006
NM_001351169.2(NT5C2):c.390-3C>T rs754629068 0.00006
NM_001368809.2(AMPD2):c.1880C>T (p.Thr627Met) rs749833212 0.00006
NM_001368809.2(AMPD2):c.2158-9C>A rs756915998 0.00006
NM_001368809.2(AMPD2):c.2237A>G (p.Asn746Ser) rs764032802 0.00006
NM_001368809.2(AMPD2):c.2269-9T>G rs778204030 0.00006
NM_001368809.2(AMPD2):c.537G>A (p.Pro179=) rs776483432 0.00006
NM_001368809.2(AMPD2):c.818G>A (p.Arg273Gln) rs143736463 0.00006
NM_002361.4(MAG):c.1297G>T (p.Val433Leu) rs146536656 0.00006
NM_002361.4(MAG):c.1666G>A (p.Val556Ile) rs201689297 0.00006
NM_002361.4(MAG):c.1719C>T (p.Ser573=) rs201985838 0.00006
NM_002361.4(MAG):c.1782C>A (p.Asp594Glu) rs200067189 0.00006
NM_002860.4(ALDH18A1):c.1467+16G>A rs371225175 0.00006
NM_002860.4(ALDH18A1):c.1568C>T (p.Ala523Val) rs529294368 0.00006
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=) rs200730342 0.00006
NM_002860.4(ALDH18A1):c.1631A>G (p.Asp544Gly) rs372744264 0.00006
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn) rs770815414 0.00006
NM_006070.6(TFG):c.1087T>G (p.Phe363Val) rs758939134 0.00006
NM_006070.6(TFG):c.1145C>T (p.Ala382Val) rs138185005 0.00006
NM_006070.6(TFG):c.1147C>T (p.Arg383Cys) rs146078119 0.00006
NM_006070.6(TFG):c.545T>C (p.Met182Thr) rs199724547 0.00006
NM_006070.6(TFG):c.944C>T (p.Pro315Leu) rs753375115 0.00006
NM_006612.6(KIF1C):c.1387C>T (p.Arg463Cys) rs759516774 0.00006
NM_006612.6(KIF1C):c.387C>A (p.Arg129=) rs138692366 0.00006
NM_006612.6(KIF1C):c.687C>T (p.Cys229=) rs752006841 0.00006
NM_012073.5(CCT5):c.1051G>A (p.Glu351Lys) rs140095139 0.00006
NM_012073.5(CCT5):c.1070G>A (p.Gly357Asp) rs143444882 0.00006
NM_014844.5(TECPR2):c.1316C>T (p.Pro439Leu) rs754024398 0.00006
NM_014844.5(TECPR2):c.1471G>A (p.Glu491Lys) rs751957510 0.00006
NM_014844.5(TECPR2):c.1792G>A (p.Gly598Arg) rs772792595 0.00006
NM_014844.5(TECPR2):c.1992G>T (p.Leu664=) rs377365529 0.00006
NM_014844.5(TECPR2):c.2514G>C (p.Pro838=) rs140913653 0.00006
NM_014844.5(TECPR2):c.2655G>T (p.Arg885=) rs200100396 0.00006
NM_014844.5(TECPR2):c.2761G>A (p.Val921Met) rs760730551 0.00006
NM_014844.5(TECPR2):c.2970C>T (p.Leu990=) rs367970932 0.00006
NM_014844.5(TECPR2):c.3171C>T (p.Pro1057=) rs749964386 0.00006
NM_014844.5(TECPR2):c.3477G>A (p.Arg1159=) rs2295975 0.00006
NM_014844.5(TECPR2):c.3790-9C>T rs771741492 0.00006
NM_014844.5(TECPR2):c.3813C>T (p.Ser1271=) rs780624484 0.00006
NM_014844.5(TECPR2):c.3999C>T (p.Leu1333=) rs556751486 0.00006
NM_014844.5(TECPR2):c.4065C>T (p.Ser1355=) rs142318405 0.00006
NM_015161.3(ARL6IP1):c.199C>T (p.Leu67=) rs763110010 0.00006
NM_015214.3(DDHD2):c.1090C>G (p.Gln364Glu) rs201156715 0.00006
NM_015214.3(DDHD2):c.1587G>A (p.Thr529=) rs141814412 0.00006
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720 0.00006
NM_022089.4(ATP13A2):c.1064C>T (p.Thr355Met) rs555691965 0.00006
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) rs768796427 0.00006
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val) rs147260398 0.00006
NM_022089.4(ATP13A2):c.212G>T (p.Trp71Leu) rs373607247 0.00006
NM_022089.4(ATP13A2):c.2252-8A>T rs759020707 0.00006
NM_022089.4(ATP13A2):c.2406C>T (p.Gly802=) rs886045580 0.00006
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857 0.00006
NM_022089.4(ATP13A2):c.2663C>T (p.Ala888Val) rs190323680 0.00006
NM_022089.4(ATP13A2):c.2994C>T (p.Ser998=) rs369590596 0.00006
NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val) rs370677966 0.00006
NM_022089.4(ATP13A2):c.461C>T (p.Ala154Val) rs376169767 0.00006
NM_022089.4(ATP13A2):c.699G>T (p.Val233=) rs374074690 0.00006
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) rs199661793 0.00006
NM_022089.4(ATP13A2):c.778G>A (p.Ala260Thr) rs761338717 0.00006
NM_022089.4(ATP13A2):c.823C>T (p.Leu275=) rs767056514 0.00006
NM_025137.4(SPG11):c.1008-4C>T rs369112409 0.00006
NM_025137.4(SPG11):c.1187A>G (p.Tyr396Cys) rs3759875 0.00006
NM_025137.4(SPG11):c.2082C>T (p.Ser694=) rs375179506 0.00006
NM_025137.4(SPG11):c.2212A>G (p.Ile738Val) rs746226262 0.00006
NM_025137.4(SPG11):c.2484T>C (p.Ser828=) rs199707089 0.00006
NM_025137.4(SPG11):c.2669G>A (p.Arg890His) rs376143651 0.00006
NM_025137.4(SPG11):c.2948A>T (p.Lys983Ile) rs765222405 0.00006
NM_025137.4(SPG11):c.3145+12C>T rs375672539 0.00006
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr) rs201842512 0.00006
NM_025137.4(SPG11):c.3362C>G (p.Thr1121Ser) rs552471760 0.00006
NM_025137.4(SPG11):c.3695A>G (p.Gln1232Arg) rs529595414 0.00006
NM_025137.4(SPG11):c.4129C>T (p.His1377Tyr) rs773499406 0.00006
NM_025137.4(SPG11):c.4692T>C (p.Asn1564=) rs149056712 0.00006
NM_025137.4(SPG11):c.5270A>G (p.His1757Arg) rs139423939 0.00006
NM_025137.4(SPG11):c.5753C>A (p.Ala1918Asp) rs368992436 0.00006
NM_025137.4(SPG11):c.5866+10G>A rs375944318 0.00006
NM_025137.4(SPG11):c.604A>G (p.Met202Val) rs201875705 0.00006
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_025137.4(SPG11):c.6387G>A (p.Thr2129=) rs150121550 0.00006
NM_025137.4(SPG11):c.6424G>A (p.Ala2142Thr) rs141035224 0.00006
NM_025137.4(SPG11):c.6477+19C>G rs376753565 0.00006
NM_025137.4(SPG11):c.6478-4del rs779032507 0.00006
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter) rs141263564 0.00006
NM_025137.4(SPG11):c.6729G>A (p.Leu2243=) rs1050508990 0.00006
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr) rs200276333 0.00006
NM_025137.4(SPG11):c.7146C>T (p.Ser2382=) rs747227352 0.00006
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys) rs371313584 0.00006
NM_025137.4(SPG11):c.779C>T (p.Thr260Ile) rs750687972 0.00006
NM_025137.4(SPG11):c.789A>G (p.Lys263=) rs764439012 0.00006
NM_031448.6(C19orf12):c.171C>T (p.Val57=) rs372589316 0.00006
NM_031448.6(C19orf12):c.216G>A (p.Pro72=) rs202054484 0.00006
NM_152415.3(VPS37A):c.512C>G (p.Thr171Ser) rs200401367 0.00006
NM_001010867.4(IBA57):c.894G>A (p.Thr298=) rs142711871 0.00005
NM_001166114.2(PNPLA6):c.1252+20C>T rs773824172 0.00005
NM_001166114.2(PNPLA6):c.1271G>A (p.Arg424His) rs369286019 0.00005
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) rs375397452 0.00005
NM_001166114.2(PNPLA6):c.1611C>T (p.Asp537=) rs541798943 0.00005
NM_001166114.2(PNPLA6):c.2454C>T (p.Ser818=) rs764034069 0.00005
NM_001166114.2(PNPLA6):c.2634+20del rs544064102 0.00005
NM_001166114.2(PNPLA6):c.2907T>C (p.Ile969=) rs774909110 0.00005
NM_001166114.2(PNPLA6):c.3109C>G (p.Leu1037Val) rs765313440 0.00005
NM_001166114.2(PNPLA6):c.3281-6G>A rs766015469 0.00005
NM_001166114.2(PNPLA6):c.3375C>T (p.Gly1125=) rs375987938 0.00005
NM_001166114.2(PNPLA6):c.3606A>G (p.Leu1202=) rs200234059 0.00005
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) rs151264767 0.00005
NM_001166114.2(PNPLA6):c.4018G>A (p.Glu1340Lys) rs376402887 0.00005
NM_001166114.2(PNPLA6):c.907T>C (p.Leu303=) rs779108773 0.00005
NM_001166114.2(PNPLA6):c.976C>T (p.Leu326=) rs559393431 0.00005
NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met) rs374249741 0.00005
NM_001368809.2(AMPD2):c.1193G>A (p.Arg398His) rs138073893 0.00005
NM_001368809.2(AMPD2):c.23C>G (p.Ser8Cys) rs147463318 0.00005
NM_001368809.2(AMPD2):c.72G>A (p.Gln24=) rs143354905 0.00005
NM_001776.6(ENTPD1):c.454G>T (p.Val152Leu) rs760388886 0.00005
NM_002361.4(MAG):c.1698G>A (p.Gly566=) rs142544260 0.00005
NM_006070.6(TFG):c.1079G>A (p.Arg360Lys) rs753259754 0.00005
NM_006070.6(TFG):c.557G>A (p.Gly186Asp) rs369981362 0.00005
NM_006070.6(TFG):c.716T>C (p.Ile239Thr) rs146004809 0.00005
NM_006612.6(KIF1C):c.1415+15_1415+18del rs777934473 0.00005
NM_006612.6(KIF1C):c.2253G>A (p.Ala751=) rs369231480 0.00005
NM_006612.6(KIF1C):c.2675C>T (p.Pro892Leu) rs768593463 0.00005
NM_006612.6(KIF1C):c.682C>T (p.Arg228Cys) rs141189136 0.00005
NM_006612.6(KIF1C):c.714G>A (p.Ser238=) rs368886383 0.00005
NM_012073.5(CCT5):c.748A>G (p.Ile250Val) rs200819422 0.00005
NM_014844.5(TECPR2):c.1180A>C (p.Arg394=) rs549744502 0.00005
NM_014844.5(TECPR2):c.2394+3A>G rs776681603 0.00005
NM_014844.5(TECPR2):c.2955C>T (p.Pro985=) rs777594505 0.00005
NM_014844.5(TECPR2):c.3912C>T (p.Thr1304=) rs748689796 0.00005
NM_014844.5(TECPR2):c.585C>A (p.Leu195=) rs151296038 0.00005
NM_014844.5(TECPR2):c.705G>A (p.Ala235=) rs368826416 0.00005
NM_014844.5(TECPR2):c.72G>A (p.Pro24=) rs201004031 0.00005
NM_015161.3(ARL6IP1):c.177C>T (p.Ile59=) rs367581150 0.00005
NM_015214.3(DDHD2):c.1477C>T (p.Pro493Ser) rs547550120 0.00005
NM_022089.4(ATP13A2):c.106-4G>A rs372541124 0.00005
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr) rs377186549 0.00005
NM_022089.4(ATP13A2):c.157G>A (p.Val53Met) rs142699829 0.00005
NM_022089.4(ATP13A2):c.2260C>G (p.Leu754Val) rs139909551 0.00005
NM_022089.4(ATP13A2):c.3084-16A>T rs56299881 0.00005
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=) rs773914880 0.00005
NM_022089.4(ATP13A2):c.601C>T (p.Arg201Cys) rs760715676 0.00005
NM_022089.4(ATP13A2):c.658G>A (p.Val220Met) rs367693423 0.00005
NM_022089.4(ATP13A2):c.822G>A (p.Ser274=) rs138649639 0.00005
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg) rs150519745 0.00005
NM_022089.4(ATP13A2):c.994G>A (p.Ala332Thr) rs141816878 0.00005
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286 0.00005
NM_025137.4(SPG11):c.1354C>T (p.Leu452Phe) rs141396952 0.00005
NM_025137.4(SPG11):c.1933A>G (p.Ser645Gly) rs768519061 0.00005
NM_025137.4(SPG11):c.2087T>G (p.Ile696Ser) rs150746549 0.00005
NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter) rs756134516 0.00005
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396 0.00005
NM_025137.4(SPG11):c.3453+4C>T rs750025536 0.00005
NM_025137.4(SPG11):c.3977G>A (p.Ser1326Asn) rs573591432 0.00005
NM_025137.4(SPG11):c.4907-9T>C rs370372318 0.00005
NM_025137.4(SPG11):c.5361C>T (p.Asp1787=) rs141421410 0.00005
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln) rs752401008 0.00005
NM_025137.4(SPG11):c.5650C>T (p.Arg1884Cys) rs752889027 0.00005
NM_025137.4(SPG11):c.5793C>G (p.Ile1931Met) rs781271890 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_025137.4(SPG11):c.935G>A (p.Gly312Asp) rs774273136 0.00005
NM_031448.6(C19orf12):c.68C>T (p.Ala23Val) rs544395324 0.00005
NM_152415.3(VPS37A):c.1192T>C (p.Ter398Gln) rs561258962 0.00005
NM_152415.3(VPS37A):c.576C>T (p.Ala192=) rs371205699 0.00005
NM_001010867.4(IBA57):c.114T>C (p.Pro38=) rs1051788506 0.00004
NM_001010867.4(IBA57):c.307C>T (p.Gln103Ter) rs778374267 0.00004
NM_001010867.4(IBA57):c.341+4A>G rs536036624 0.00004
NM_001166114.2(PNPLA6):c.1223G>T (p.Arg408Leu) rs150500586 0.00004
NM_001166114.2(PNPLA6):c.1253-14C>G rs753882799 0.00004
NM_001166114.2(PNPLA6):c.1379C>T (p.Pro460Leu) rs375366178 0.00004
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) rs140929996 0.00004
NM_001166114.2(PNPLA6):c.1509G>A (p.Leu503=) rs747793507 0.00004
NM_001166114.2(PNPLA6):c.1609-10G>T rs556461183 0.00004
NM_001166114.2(PNPLA6):c.1626C>T (p.Phe542=) rs778970098 0.00004
NM_001166114.2(PNPLA6):c.2634+4G>C rs751744206 0.00004
NM_001166114.2(PNPLA6):c.2754C>T (p.Cys918=) rs369993445 0.00004
NM_001166114.2(PNPLA6):c.2988C>T (p.Pro996=) rs779282544 0.00004
NM_001166114.2(PNPLA6):c.3094-20G>A rs780285884 0.00004
NM_001166114.2(PNPLA6):c.3122T>C (p.Leu1041Ser) rs1291359628 0.00004
NM_001166114.2(PNPLA6):c.3132G>A (p.Thr1044=) rs557463575 0.00004
NM_001166114.2(PNPLA6):c.3246T>C (p.Asp1082=) rs142676943 0.00004
NM_001166114.2(PNPLA6):c.3280+12C>T rs201782128 0.00004
NM_001166114.2(PNPLA6):c.3300del (p.Arg1101fs) rs756591718 0.00004
NM_001166114.2(PNPLA6):c.3399G>A (p.Ala1133=) rs760279180 0.00004
NM_001166114.2(PNPLA6):c.358G>A (p.Ala120Thr) rs147490830 0.00004
NM_001166114.2(PNPLA6):c.3647C>T (p.Pro1216Leu) rs762047744 0.00004
NM_001166114.2(PNPLA6):c.3753C>T (p.Asn1251=) rs372465203 0.00004
NM_001166114.2(PNPLA6):c.3809G>A (p.Arg1270His) rs150754330 0.00004
NM_001166114.2(PNPLA6):c.3955G>A (p.Gly1319Arg) rs140568070 0.00004
NM_001166114.2(PNPLA6):c.4074G>A (p.Pro1358=) rs372042160 0.00004
NM_001166114.2(PNPLA6):c.617G>A (p.Arg206Gln) rs535890270 0.00004
NM_001166114.2(PNPLA6):c.864G>A (p.Pro288=) rs369082833 0.00004
NM_001166114.2(PNPLA6):c.925-15C>T rs764113115 0.00004
NM_001351169.2(NT5C2):c.101+16A>G rs1369375161 0.00004
NM_001351169.2(NT5C2):c.44T>C (p.Met15Thr) rs751896016 0.00004
NM_001351169.2(NT5C2):c.465A>G (p.Thr155=) rs115843728 0.00004
NM_001351169.2(NT5C2):c.656T>C (p.Val219Ala) rs116066839 0.00004
NM_001368809.2(AMPD2):c.-43G>T rs768664971 0.00004
NM_001368809.2(AMPD2):c.-94G>T rs1012698060 0.00004
NM_001368809.2(AMPD2):c.1236G>A (p.Thr412=) rs143970486 0.00004
NM_001368809.2(AMPD2):c.1479G>A (p.Ser493=) rs777419165 0.00004
NM_001368809.2(AMPD2):c.1734G>A (p.Lys578=) rs781503038 0.00004
NM_001368809.2(AMPD2):c.1750T>C (p.Phe584Leu) rs763257527 0.00004
NM_001368809.2(AMPD2):c.1871G>T (p.Gly624Val) rs1349754803 0.00004
NM_001368809.2(AMPD2):c.222+19C>T rs200880116 0.00004
NM_001368809.2(AMPD2):c.2269-12C>T rs753510697 0.00004
NM_001368809.2(AMPD2):c.283G>A (p.Glu95Lys) rs776751502 0.00004
NM_001368809.2(AMPD2):c.423-20C>T rs112705694 0.00004
NM_001368809.2(AMPD2):c.740C>T (p.Ala247Val) rs145441666 0.00004
NM_001368809.2(AMPD2):c.861-11C>T rs368738130 0.00004
NM_001776.6(ENTPD1):c.1185G>C (p.Glu395Asp) rs374624208 0.00004
NM_001776.6(ENTPD1):c.1338C>T (p.Ser446=) rs139646807 0.00004
NM_001776.6(ENTPD1):c.144+10A>G rs1197123531 0.00004
NM_001776.6(ENTPD1):c.24C>T (p.Asn8=) rs368856010 0.00004
NM_001776.6(ENTPD1):c.262+9A>G rs371120547 0.00004
NM_001776.6(ENTPD1):c.325A>C (p.Met109Leu) rs139597339 0.00004
NM_001776.6(ENTPD1):c.814-6A>G rs549511254 0.00004
NM_002361.4(MAG):c.1680C>T (p.Ser560=) rs368402881 0.00004
NM_002361.4(MAG):c.319G>A (p.Val107Ile) rs186777043 0.00004
NM_002361.4(MAG):c.415+4A>C rs769703123 0.00004
NM_002361.4(MAG):c.849G>A (p.Ala283=) rs140197131 0.00004
NM_002361.4(MAG):c.971-4G>A rs201450065 0.00004
NM_002860.4(ALDH18A1):c.1014C>T (p.His338=) rs150056435 0.00004
NM_002860.4(ALDH18A1):c.1078+17A>G rs745857450 0.00004
NM_002860.4(ALDH18A1):c.1112G>A (p.Arg371Gln) rs745614904 0.00004
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met) rs111344269 0.00004
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=) rs369979669 0.00004
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) rs757876226 0.00004
NM_002860.4(ALDH18A1):c.1485C>T (p.Ile495=) rs777125038 0.00004
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn) rs200858692 0.00004
NM_002860.4(ALDH18A1):c.1800A>G (p.Leu600=) rs141192935 0.00004
NM_002860.4(ALDH18A1):c.1865G>A (p.Arg622Gln) rs774274057 0.00004
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His) rs773714478 0.00004
NM_002860.4(ALDH18A1):c.2206+17T>C rs200513474 0.00004
NM_002860.4(ALDH18A1):c.2276C>T (p.Thr759Ile) rs781126562 0.00004
NM_002860.4(ALDH18A1):c.240C>T (p.Ala80=) rs1016828034 0.00004
NM_002860.4(ALDH18A1):c.27G>C (p.Gly9=) rs368431558 0.00004
NM_002860.4(ALDH18A1):c.304-3C>T rs188362786 0.00004
NM_002860.4(ALDH18A1):c.357C>T (p.Ala119=) rs767594147 0.00004
NM_002860.4(ALDH18A1):c.429G>A (p.Ser143=) rs745705105 0.00004
NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe) rs747291828 0.00004
NM_002860.4(ALDH18A1):c.88C>T (p.His30Tyr) rs113678237 0.00004
NM_006070.6(TFG):c.1002T>G (p.Ser334=) rs761683764 0.00004
NM_006070.6(TFG):c.1146G>A (p.Ala382=) rs761808737 0.00004
NM_006070.6(TFG):c.68G>A (p.Arg23Gln) rs774808090 0.00004
NM_006070.6(TFG):c.753C>T (p.Ala251=) rs561791332 0.00004
NM_006070.6(TFG):c.820+3G>A rs367852812 0.00004
NM_006070.6(TFG):c.996A>G (p.Gln332=) rs774298210 0.00004
NM_006612.6(KIF1C):c.1020-14C>G rs201164122 0.00004
NM_006612.6(KIF1C):c.1492-6G>A rs372819668 0.00004
NM_006612.6(KIF1C):c.2109G>A (p.Thr703=) rs372267137 0.00004
NM_006612.6(KIF1C):c.2293C>T (p.Arg765Cys) rs767797244 0.00004
NM_006612.6(KIF1C):c.2429A>C (p.Glu810Ala) rs182610831 0.00004
NM_006612.6(KIF1C):c.2719C>T (p.Arg907Cys) rs758990694 0.00004
NM_006612.6(KIF1C):c.2887C>T (p.Arg963Cys) rs768222656 0.00004
NM_006612.6(KIF1C):c.3207A>C (p.Pro1069=) rs768877923 0.00004
NM_006612.6(KIF1C):c.528G>A (p.Pro176=) rs775719793 0.00004
NM_006612.6(KIF1C):c.766G>A (p.Asp256Asn) rs150280414 0.00004
NM_006612.6(KIF1C):c.996C>T (p.Tyr332=) rs143283587 0.00004
NM_012073.5(CCT5):c.1075G>A (p.Val359Ile) rs147989324 0.00004
NM_012073.5(CCT5):c.122C>G (p.Ala41Gly) rs1337016126 0.00004
NM_012073.5(CCT5):c.1310C>T (p.Ala437Val) rs149067488 0.00004
NM_012073.5(CCT5):c.332-17T>C rs372131014 0.00004
NM_012073.5(CCT5):c.759T>C (p.Cys253=) rs542323956 0.00004
NM_012073.5(CCT5):c.878A>T (p.Lys293Ile) rs148752621 0.00004
NM_014844.5(TECPR2):c.1261G>A (p.Gly421Arg) rs141146184 0.00004
NM_014844.5(TECPR2):c.1327A>G (p.Arg443Gly) rs199977652 0.00004
NM_014844.5(TECPR2):c.1335C>T (p.Asn445=) rs778115838 0.00004
NM_014844.5(TECPR2):c.1518G>A (p.Ser506=) rs370643085 0.00004
NM_014844.5(TECPR2):c.1725T>C (p.His575=) rs772499602 0.00004
NM_014844.5(TECPR2):c.1971C>T (p.Ala657=) rs373400063 0.00004
NM_014844.5(TECPR2):c.2664C>T (p.Tyr888=) rs776185972 0.00004
NM_014844.5(TECPR2):c.2933+9G>A rs549959695 0.00004
NM_014844.5(TECPR2):c.3093T>C (p.Tyr1031=) rs773749864 0.00004
NM_014844.5(TECPR2):c.3501C>T (p.Pro1167=) rs746956794 0.00004
NM_014844.5(TECPR2):c.3507C>T (p.Ala1169=) rs775448295 0.00004
NM_014844.5(TECPR2):c.3521A>G (p.Tyr1174Cys) rs767911807 0.00004
NM_014844.5(TECPR2):c.3580A>G (p.Thr1194Ala) rs746763770 0.00004
NM_014844.5(TECPR2):c.3979C>T (p.Arg1327Cys) rs763261549 0.00004
NM_014844.5(TECPR2):c.4011C>T (p.Tyr1337=) rs531905416 0.00004
NM_014844.5(TECPR2):c.4032C>T (p.Pro1344=) rs764511150 0.00004
NM_014844.5(TECPR2):c.4119C>T (p.Pro1373=) rs536343745 0.00004
NM_014844.5(TECPR2):c.413A>G (p.Asn138Ser) rs750512288 0.00004
NM_014844.5(TECPR2):c.4189G>A (p.Ala1397Thr) rs376123886 0.00004
NM_014844.5(TECPR2):c.632G>A (p.Arg211Lys) rs201081739 0.00004
NM_014844.5(TECPR2):c.669A>C (p.Pro223=) rs750443286 0.00004
NM_014844.5(TECPR2):c.715G>A (p.Gly239Arg) rs750922939 0.00004
NM_015214.3(DDHD2):c.1131G>A (p.Ser377=) rs138763105 0.00004
NM_015214.3(DDHD2):c.1361C>A (p.Ala454Asp) rs1005295323 0.00004
NM_015214.3(DDHD2):c.139T>G (p.Cys47Gly) rs200883537 0.00004
NM_015214.3(DDHD2):c.1778C>T (p.Ser593Leu) rs371592123 0.00004
NM_015214.3(DDHD2):c.221-9C>T rs746277193 0.00004
NM_015214.3(DDHD2):c.667A>G (p.Ile223Val) rs180936280 0.00004
NM_022089.4(ATP13A2):c.1182G>T (p.Val394=) rs372159448 0.00004
NM_022089.4(ATP13A2):c.144C>T (p.Ile48=) rs375615601 0.00004
NM_022089.4(ATP13A2):c.153C>T (p.His51=) rs759666274 0.00004
NM_022089.4(ATP13A2):c.1542+3G>A rs747456787 0.00004
NM_022089.4(ATP13A2):c.1545G>A (p.Thr515=) rs373005131 0.00004
NM_022089.4(ATP13A2):c.1630C>T (p.Arg544Cys) rs893985839 0.00004
NM_022089.4(ATP13A2):c.1766C>T (p.Pro589Leu) rs758992649 0.00004
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile) rs747785443 0.00004
NM_022089.4(ATP13A2):c.2412G>A (p.Lys804=) rs978493820 0.00004
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His) rs745954026 0.00004
NM_022089.4(ATP13A2):c.25G>A (p.Val9Met) rs143579092 0.00004
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) rs567287489 0.00004
NM_022089.4(ATP13A2):c.2745C>T (p.Cys915=) rs372361807 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_022089.4(ATP13A2):c.2763-17C>T rs367638044 0.00004
NM_022089.4(ATP13A2):c.2828C>T (p.Thr943Ile) rs1401431520 0.00004
NM_022089.4(ATP13A2):c.2952G>A (p.Ala984=) rs138212767 0.00004
NM_022089.4(ATP13A2):c.3112G>A (p.Ala1038Thr) rs757076945 0.00004
NM_022089.4(ATP13A2):c.3205G>A (p.Ala1069Thr) rs774238872 0.00004
NM_022089.4(ATP13A2):c.3215G>A (p.Arg1072His) rs371220869 0.00004
NM_022089.4(ATP13A2):c.3235+16C>T rs373315947 0.00004
NM_022089.4(ATP13A2):c.3442C>T (p.Arg1148Cys) rs759327218 0.00004
NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His) rs533548757 0.00004
NM_022089.4(ATP13A2):c.374C>G (p.Ala125Gly) rs1050244144 0.00004
NM_022089.4(ATP13A2):c.394G>A (p.Ala132Thr) rs200934541 0.00004
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val) rs562519835 0.00004
NM_022089.4(ATP13A2):c.649G>A (p.Gly217Ser) rs199961048 0.00004
NM_022089.4(ATP13A2):c.722A>G (p.Tyr241Cys) rs1221004929 0.00004
NM_022089.4(ATP13A2):c.993C>T (p.Ala331=) rs568367953 0.00004
NM_025137.4(SPG11):c.1001T>C (p.Ile334Thr) rs760573942 0.00004
NM_025137.4(SPG11):c.1248G>T (p.Met416Ile) rs371310453 0.00004
NM_025137.4(SPG11):c.1348dup (p.Ile450fs) rs312262725 0.00004
NM_025137.4(SPG11):c.1437G>T (p.Gln479His) rs377499551 0.00004
NM_025137.4(SPG11):c.1821A>G (p.Ser607=) rs181229662 0.00004
NM_025137.4(SPG11):c.1891+16A>G rs557248278 0.00004
NM_025137.4(SPG11):c.2066A>G (p.Glu689Gly) rs748241805 0.00004
NM_025137.4(SPG11):c.2068-4C>T rs774288495 0.00004
NM_025137.4(SPG11):c.2301T>C (p.Asn767=) rs751121188 0.00004
NM_025137.4(SPG11):c.23C>G (p.Ala8Gly) rs200939573 0.00004
NM_025137.4(SPG11):c.2621-8T>C rs771974720 0.00004
NM_025137.4(SPG11):c.2764G>A (p.Val922Ile) rs139399250 0.00004
NM_025137.4(SPG11):c.2875T>C (p.Cys959Arg) rs375859622 0.00004
NM_025137.4(SPG11):c.2903G>C (p.Gly968Ala) rs769129678 0.00004
NM_025137.4(SPG11):c.3189T>G (p.Ile1063Met) rs1196874771 0.00004
NM_025137.4(SPG11):c.3292-7T>C rs1595876068 0.00004
NM_025137.4(SPG11):c.3343C>T (p.Leu1115=) rs374565265 0.00004
NM_025137.4(SPG11):c.3514A>G (p.Ile1172Val) rs151299495 0.00004
NM_025137.4(SPG11):c.3584A>G (p.Glu1195Gly) rs775875753 0.00004
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs) rs312262755 0.00004
NM_025137.4(SPG11):c.36C>T (p.Ser12=) rs368656047 0.00004
NM_025137.4(SPG11):c.381A>G (p.Ala127=) rs369234511 0.00004
NM_025137.4(SPG11):c.3848G>A (p.Cys1283Tyr) rs745718551 0.00004
NM_025137.4(SPG11):c.3867G>A (p.Gln1289=) rs940673994 0.00004
NM_025137.4(SPG11):c.4261G>A (p.Asp1421Asn) rs191148548 0.00004
NM_025137.4(SPG11):c.445A>G (p.Ile149Val) rs1482526173 0.00004
NM_025137.4(SPG11):c.4907-13C>G rs778489486 0.00004
NM_025137.4(SPG11):c.5645T>C (p.Ile1882Thr) rs760815236 0.00004
NM_025137.4(SPG11):c.5725G>A (p.Ala1909Thr) rs140710297 0.00004
NM_025137.4(SPG11):c.6006+3A>G rs201717063 0.00004
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) rs771242219 0.00004
NM_025137.4(SPG11):c.6447C>A (p.His2149Gln) rs373897153 0.00004
NM_025137.4(SPG11):c.6452C>G (p.Ala2151Gly) rs763676031 0.00004
NM_025137.4(SPG11):c.6932_6933insGTT (p.Thr2311_Met2312insLeu) rs747133152 0.00004
NM_025137.4(SPG11):c.6952C>T (p.Arg2318Cys) rs377341108 0.00004
NM_025137.4(SPG11):c.6988C>T (p.Arg2330Trp) rs775295729 0.00004
NM_025137.4(SPG11):c.70C>T (p.Arg24Trp) rs745561381 0.00004
NM_025137.4(SPG11):c.7107G>T (p.Gln2369His) rs551095608 0.00004
NM_025137.4(SPG11):c.7189A>C (p.Asn2397His) rs779892720 0.00004
NM_025137.4(SPG11):c.7202T>C (p.Leu2401Ser) rs139812925 0.00004
NM_025137.4(SPG11):c.78A>G (p.Leu26=) rs753713965 0.00004
NM_031448.6(C19orf12):c.135G>A (p.Val45=) rs370529654 0.00004
NM_031448.6(C19orf12):c.177G>A (p.Gly59=) rs768063881 0.00004
NM_031448.6(C19orf12):c.249C>T (p.Ala83=) rs762174442 0.00004
NM_031448.6(C19orf12):c.276C>T (p.Ala92=) rs772027533 0.00004
NM_031448.6(C19orf12):c.309C>T (p.Asp103=) rs755631346 0.00004
NM_031448.6(C19orf12):c.327G>A (p.Ala109=) rs765448305 0.00004
NM_031448.6(C19orf12):c.376G>A (p.Val126Met) rs779790146 0.00004
NM_152415.3(VPS37A):c.420A>G (p.Leu140=) rs752387958 0.00004
NM_152415.3(VPS37A):c.787A>C (p.Lys263Gln) rs199781923 0.00004
NM_152415.3(VPS37A):c.892T>A (p.Leu298Ile) rs750264592 0.00004
NM_152415.3(VPS37A):c.901-9C>G rs368005823 0.00004
NM_001010867.4(IBA57):c.304G>C (p.Val102Leu) rs753218907 0.00003
NM_001010867.4(IBA57):c.305T>G (p.Val102Gly) rs759005478 0.00003
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala) rs1053773776 0.00003
NM_001010867.4(IBA57):c.316del (p.Thr106fs) rs757794637 0.00003
NM_001166114.2(PNPLA6):c.1088G>A (p.Ser363Asn) rs756600765 0.00003
NM_001166114.2(PNPLA6):c.1392G>A (p.Pro464=) rs927302241 0.00003
NM_001166114.2(PNPLA6):c.1529A>T (p.Glu510Val) rs1017141420 0.00003
NM_001166114.2(PNPLA6):c.1594C>T (p.Arg532Cys) rs745665473 0.00003
NM_001166114.2(PNPLA6):c.1962C>T (p.Ser654=) rs757870828 0.00003
NM_001166114.2(PNPLA6):c.2067C>A (p.Gly689=) rs773178139 0.00003
NM_001166114.2(PNPLA6):c.2181G>A (p.Pro727=) rs1409850827 0.00003
NM_001166114.2(PNPLA6):c.2185-15C>T rs780822241 0.00003
NM_001166114.2(PNPLA6):c.2256C>A (p.Phe752Leu) rs773741175 0.00003
NM_001166114.2(PNPLA6):c.2260+10G>A rs763465479 0.00003
NM_001166114.2(PNPLA6):c.232+14G>A rs199727584 0.00003
NM_001166114.2(PNPLA6):c.2408C>T (p.Thr803Met) rs374789348 0.00003
NM_001166114.2(PNPLA6):c.2952C>T (p.Ile984=) rs767654280 0.00003
NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr) rs377449787 0.00003
NM_001166114.2(PNPLA6):c.3281-4G>A rs555997335 0.00003
NM_001166114.2(PNPLA6):c.3336G>T (p.Pro1112=) rs570723263 0.00003
NM_001166114.2(PNPLA6):c.3397+11G>T rs370597983 0.00003
NM_001166114.2(PNPLA6):c.3398-11del rs1409345995 0.00003
NM_001166114.2(PNPLA6):c.3409C>T (p.Arg1137Cys) rs587777854 0.00003
NM_001166114.2(PNPLA6):c.3654C>T (p.Ile1218=) rs377515453 0.00003
NM_001166114.2(PNPLA6):c.3655G>A (p.Asp1219Asn) rs370060935 0.00003
NM_001166114.2(PNPLA6):c.372A>G (p.Pro124=) rs772823305 0.00003
NM_001166114.2(PNPLA6):c.3884C>T (p.Thr1295Met) rs758549829 0.00003
NM_001166114.2(PNPLA6):c.3914-9C>T rs200579809 0.00003
NM_001166114.2(PNPLA6):c.3990C>T (p.Pro1330=) rs535388759 0.00003
NM_001166114.2(PNPLA6):c.549C>T (p.Asn183=) rs778438044 0.00003
NM_001166114.2(PNPLA6):c.924+15G>A rs1167944518 0.00003
NM_001351169.2(NT5C2):c.1056C>T (p.His352=) rs757640692 0.00003
NM_001351169.2(NT5C2):c.1528A>C (p.Thr510Pro) rs766540908 0.00003
NM_001351169.2(NT5C2):c.481+8C>T rs773212797 0.00003
NM_001368809.2(AMPD2):c.-13C>T rs759860840 0.00003
NM_001368809.2(AMPD2):c.-149G>A rs773946980 0.00003
NM_001368809.2(AMPD2):c.-19C>T rs771607197 0.00003
NM_001368809.2(AMPD2):c.-52C>G rs570541266 0.00003
NM_001368809.2(AMPD2):c.-67T>C rs745646206 0.00003
NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr) rs149171366 0.00003
NM_001368809.2(AMPD2):c.1519C>T (p.His507Tyr) rs374652371 0.00003
NM_001368809.2(AMPD2):c.1522C>T (p.Arg508Cys) rs146798795 0.00003
NM_001368809.2(AMPD2):c.178G>A (p.Asp60Asn) rs754712604 0.00003
NM_001368809.2(AMPD2):c.1895C>T (p.Pro632Leu) rs746845817 0.00003
NM_001368809.2(AMPD2):c.2184C>T (p.Ile728=) rs367822022 0.00003
NM_001368809.2(AMPD2):c.353+9G>A rs371094107 0.00003
NM_001368809.2(AMPD2):c.433G>C (p.Glu145Gln) rs753757082 0.00003
NM_001368809.2(AMPD2):c.579G>A (p.Ala193=) rs183170041 0.00003
NM_001776.6(ENTPD1):c.1254C>T (p.Tyr418=) rs759450413 0.00003
NM_001776.6(ENTPD1):c.39C>T (p.Cys13=) rs766814208 0.00003
NM_002361.4(MAG):c.1468G>A (p.Ala490Thr) rs202083530 0.00003
NM_002361.4(MAG):c.1688G>A (p.Arg563His) rs138056630 0.00003
NM_002361.4(MAG):c.1815G>A (p.Arg605=) rs772194872 0.00003
NM_002361.4(MAG):c.646G>T (p.Gly216Cys) rs200984385 0.00003
NM_002361.4(MAG):c.688G>A (p.Gly230Ser) rs765954040 0.00003
NM_002860.4(ALDH18A1):c.1027A>G (p.Ile343Val) rs371294018 0.00003
NM_002860.4(ALDH18A1):c.1110G>A (p.Ala370=) rs558532112 0.00003
NM_002860.4(ALDH18A1):c.1172A>G (p.His391Arg) rs774081826 0.00003
NM_002860.4(ALDH18A1):c.1190C>T (p.Thr397Met) rs769823561 0.00003
NM_002860.4(ALDH18A1):c.122G>A (p.Arg41His) rs192921117 0.00003
NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys) rs147348068 0.00003
NM_002860.4(ALDH18A1):c.1380C>T (p.Ile460=) rs770247123 0.00003
NM_002860.4(ALDH18A1):c.1417A>G (p.Ile473Val) rs373239891 0.00003
NM_002860.4(ALDH18A1):c.1467+15C>T rs374652686 0.00003
NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp) rs770442555 0.00003
NM_002860.4(ALDH18A1):c.2040C>T (p.Asn680=) rs145806693 0.00003
NM_002860.4(ALDH18A1):c.2121G>A (p.Ala707=) rs753837028 0.00003
NM_002860.4(ALDH18A1):c.2176C>T (p.Arg726Cys) rs202169492 0.00003
NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp) rs747918055 0.00003
NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg) rs201841420 0.00003
NM_002860.4(ALDH18A1):c.933+14G>A rs546156675 0.00003
NM_002860.4(ALDH18A1):c.948C>T (p.Leu316=) rs769800738 0.00003
NM_006070.6(TFG):c.1154G>A (p.Arg385His) rs373719892 0.00003
NM_006070.6(TFG):c.171G>A (p.Lys57=) rs201326908 0.00003
NM_006070.6(TFG):c.177A>G (p.Lys59=) rs766483726 0.00003
NM_006070.6(TFG):c.337C>A (p.Arg113=) rs764959531 0.00003
NM_006070.6(TFG):c.438A>G (p.Glu146=) rs1258206651 0.00003
NM_006070.6(TFG):c.882A>C (p.Gln294His) rs751393611 0.00003
NM_006612.6(KIF1C):c.1261G>C (p.Gly421Arg) rs1259655283 0.00003
NM_006612.6(KIF1C):c.1284C>A (p.Ser428=) rs758493561 0.00003
NM_006612.6(KIF1C):c.1336-8G>A rs778681188 0.00003
NM_006612.6(KIF1C):c.14C>T (p.Ser5Leu) rs747424547 0.00003
NM_006612.6(KIF1C):c.2377G>A (p.Gly793Arg) rs1393424251 0.00003
NM_006612.6(KIF1C):c.2522C>T (p.Thr841Met) rs780729030 0.00003
NM_006612.6(KIF1C):c.2567G>A (p.Arg856Gln) rs372705324 0.00003
NM_006612.6(KIF1C):c.2999C>T (p.Pro1000Leu) rs267604960 0.00003
NM_006612.6(KIF1C):c.3062C>T (p.Pro1021Leu) rs369620316 0.00003
NM_006612.6(KIF1C):c.3121C>T (p.Arg1041Trp) rs200388087 0.00003
NM_006612.6(KIF1C):c.352A>C (p.Ile118Leu) rs757847238 0.00003
NM_006612.6(KIF1C):c.899A>T (p.Tyr300Phe) rs760721111 0.00003
NM_012073.5(CCT5):c.106-6C>T rs201641048 0.00003
NM_012073.5(CCT5):c.1072C>T (p.Leu358Phe) rs777440322 0.00003
NM_012073.5(CCT5):c.1324A>G (p.Thr442Ala) rs759193876 0.00003
NM_012073.5(CCT5):c.1499-14C>A rs772511157 0.00003
NM_012073.5(CCT5):c.1499-20A>G rs746431065 0.00003
NM_012073.5(CCT5):c.36T>C (p.Tyr12=) rs111848991 0.00003
NM_014844.5(TECPR2):c.1203C>T (p.Ser401=) rs759378757 0.00003
NM_014844.5(TECPR2):c.1236G>A (p.Ser412=) rs756426693 0.00003
NM_014844.5(TECPR2):c.1458G>A (p.Ser486=) rs775531821 0.00003
NM_014844.5(TECPR2):c.1638G>A (p.Thr546=) rs768273816 0.00003
NM_014844.5(TECPR2):c.1803G>A (p.Pro601=) rs779281934 0.00003
NM_014844.5(TECPR2):c.2199C>T (p.Ala733=) rs761750187 0.00003
NM_014844.5(TECPR2):c.228G>A (p.Thr76=) rs750030334 0.00003
NM_014844.5(TECPR2):c.2491G>T (p.Gly831Cys) rs201352197 0.00003
NM_014844.5(TECPR2):c.2625T>C (p.Ala875=) rs779230418 0.00003
NM_014844.5(TECPR2):c.2752+7G>A rs769247131 0.00003
NM_014844.5(TECPR2):c.2752+8C>T rs774960200 0.00003
NM_014844.5(TECPR2):c.2752+9G>A rs753140257 0.00003
NM_014844.5(TECPR2):c.2967G>A (p.Thr989=) rs1345090533 0.00003
NM_014844.5(TECPR2):c.3060C>T (p.Asp1020=) rs143290546 0.00003
NM_014844.5(TECPR2):c.3204G>A (p.Ala1068=) rs774882832 0.00003
NM_014844.5(TECPR2):c.3258C>T (p.Ser1086=) rs765907877 0.00003
NM_014844.5(TECPR2):c.348+10C>T rs766975160 0.00003
NM_014844.5(TECPR2):c.351T>G (p.Leu117=) rs771585977 0.00003
NM_014844.5(TECPR2):c.3525C>T (p.Ala1175=) rs559134152 0.00003
NM_014844.5(TECPR2):c.3640+10C>T rs1029063500 0.00003
NM_014844.5(TECPR2):c.3804C>T (p.Ser1268=) rs757365630 0.00003
NM_014844.5(TECPR2):c.4059C>T (p.Pro1353=) rs1333017689 0.00003
NM_014844.5(TECPR2):c.45G>A (p.Pro15=) rs371781829 0.00003
NM_014844.5(TECPR2):c.717G>A (p.Gly239=) rs755693156 0.00003
NM_014844.5(TECPR2):c.95G>A (p.Arg32His) rs767622790 0.00003
NM_014844.5(TECPR2):c.999G>A (p.Ser333=) rs369972265 0.00003
NM_015161.3(ARL6IP1):c.29A>G (p.Asn10Ser) rs200140310 0.00003
NM_015214.3(DDHD2):c.1009A>C (p.Arg337=) rs778628163 0.00003
NM_015214.3(DDHD2):c.1627G>A (p.Val543Met) rs746480457 0.00003
NM_015214.3(DDHD2):c.1752G>A (p.Met584Ile) rs765137700 0.00003
NM_015214.3(DDHD2):c.2055-5T>C rs777076814 0.00003
NM_015214.3(DDHD2):c.335G>A (p.Arg112Gln) rs781089161 0.00003
NM_015214.3(DDHD2):c.849-20A>C rs766574314 0.00003
NM_022089.4(ATP13A2):c.1104A>G (p.Thr368=) rs762728165 0.00003
NM_022089.4(ATP13A2):c.1398C>T (p.Thr466=) rs768482207 0.00003
NM_022089.4(ATP13A2):c.1634G>A (p.Arg545His) rs200337290 0.00003
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln) rs541385523 0.00003
NM_022089.4(ATP13A2):c.1895C>T (p.Ser632Leu) rs376070950 0.00003
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271 0.00003
NM_022089.4(ATP13A2):c.2190G>T (p.Pro730=) rs148275181 0.00003
NM_022089.4(ATP13A2):c.2439C>T (p.Thr813=) rs368244226 0.00003
NM_022089.4(ATP13A2):c.2478C>T (p.Ser826=) rs147611385 0.00003
NM_022089.4(ATP13A2):c.2529+8C>T rs771708290 0.00003
NM_022089.4(ATP13A2):c.265G>A (p.Val89Ile) rs534590083 0.00003
NM_022089.4(ATP13A2):c.2681C>T (p.Ser894Leu) rs376348581 0.00003
NM_022089.4(ATP13A2):c.2796C>T (p.Ser932=) rs755542233 0.00003
NM_022089.4(ATP13A2):c.2978C>T (p.Pro993Leu) rs146559160 0.00003
NM_022089.4(ATP13A2):c.3059A>G (p.Tyr1020Cys) rs372182128 0.00003
NM_022089.4(ATP13A2):c.3360G>C (p.Leu1120=) rs1170773460 0.00003
NM_022089.4(ATP13A2):c.3384C>T (p.Phe1128=) rs373514205 0.00003
NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=) rs781135190 0.00003
NM_022089.4(ATP13A2):c.42C>T (p.Thr14=) rs371850140 0.00003
NM_022089.4(ATP13A2):c.431A>T (p.Asp144Val) rs145031260 0.00003
NM_022089.4(ATP13A2):c.558-20C>T rs749500132 0.00003
NM_022089.4(ATP13A2):c.574C>T (p.Arg192Cys) rs372857244 0.00003
NM_025137.4(SPG11):c.1030T>C (p.Ser344Pro) rs1235556400 0.00003
NM_025137.4(SPG11):c.1131C>T (p.His377=) rs148613119 0.00003
NM_025137.4(SPG11):c.1168G>A (p.Asp390Asn) rs747798305 0.00003
NM_025137.4(SPG11):c.1273A>G (p.Ile425Val) rs746799947 0.00003
NM_025137.4(SPG11):c.1286G>A (p.Cys429Tyr) rs374650170 0.00003
NM_025137.4(SPG11):c.1494A>G (p.Gln498=) rs760202776 0.00003
NM_025137.4(SPG11):c.171G>C (p.Leu57=) rs752630233 0.00003
NM_025137.4(SPG11):c.1759T>C (p.Leu587=) rs1438765066 0.00003
NM_025137.4(SPG11):c.1891+8T>A rs370785527 0.00003
NM_025137.4(SPG11):c.1939A>G (p.Ile647Val) rs375256495 0.00003
NM_025137.4(SPG11):c.1952G>A (p.Arg651Gln) rs766733736 0.00003
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys) rs764762491 0.00003
NM_025137.4(SPG11):c.2067+9G>A rs751899105 0.00003
NM_025137.4(SPG11):c.2146C>A (p.Gln716Lys) rs312262737 0.00003
NM_025137.4(SPG11):c.226G>C (p.Gly76Arg) rs944158756 0.00003
NM_025137.4(SPG11):c.2377G>A (p.Val793Met) rs546601155 0.00003
NM_025137.4(SPG11):c.2445-19T>A rs770685534 0.00003
NM_025137.4(SPG11):c.2556T>C (p.Asn852=) rs754045563 0.00003
NM_025137.4(SPG11):c.2577A>G (p.Gln859=) rs753130399 0.00003
NM_025137.4(SPG11):c.2739G>C (p.Gln913His) rs1209247230 0.00003
NM_025137.4(SPG11):c.2834+1G>T rs312262749 0.00003
NM_025137.4(SPG11):c.2834+20A>G rs368325394 0.00003
NM_025137.4(SPG11):c.2917G>C (p.Asp973His) rs746774397 0.00003
NM_025137.4(SPG11):c.3176C>T (p.Ala1059Val) rs759301637 0.00003
NM_025137.4(SPG11):c.3178A>G (p.Asn1060Asp) rs1567161567 0.00003
NM_025137.4(SPG11):c.3228A>G (p.Leu1076=) rs375911466 0.00003
NM_025137.4(SPG11):c.3292-1G>T rs201217015 0.00003
NM_025137.4(SPG11):c.3453+8A>G rs1380778736 0.00003
NM_025137.4(SPG11):c.3551G>T (p.Ser1184Ile) rs766403944 0.00003
NM_025137.4(SPG11):c.3611A>G (p.His1204Arg) rs769221549 0.00003
NM_025137.4(SPG11):c.361A>C (p.Lys121Gln) rs778960331 0.00003
NM_025137.4(SPG11):c.3749T>C (p.Ile1250Thr) rs763244237 0.00003
NM_025137.4(SPG11):c.3894C>T (p.Ala1298=) rs1352070054 0.00003
NM_025137.4(SPG11):c.4070T>C (p.Leu1357Pro) rs367550468 0.00003
NM_025137.4(SPG11):c.4137A>G (p.Gln1379=) rs748617459 0.00003
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr) rs775877332 0.00003
NM_025137.4(SPG11):c.4997T>C (p.Ile1666Thr) rs1008817337 0.00003
NM_025137.4(SPG11):c.5103C>T (p.Asp1701=) rs991666334 0.00003
NM_025137.4(SPG11):c.5187C>T (p.Asp1729=) rs1042076487 0.00003
NM_025137.4(SPG11):c.5362G>A (p.Val1788Met) rs200918991 0.00003
NM_025137.4(SPG11):c.5414G>A (p.Arg1805His) rs775768037 0.00003
NM_025137.4(SPG11):c.5520G>A (p.Glu1840=) rs776721395 0.00003
NM_025137.4(SPG11):c.5613T>C (p.Asp1871=) rs146251582 0.00003
NM_025137.4(SPG11):c.5695C>T (p.Arg1899Trp) rs748177028 0.00003
NM_025137.4(SPG11):c.5817G>A (p.Glu1939=) rs146961070 0.00003
NM_025137.4(SPG11):c.5863A>G (p.Ser1955Gly) rs1479657715 0.00003
NM_025137.4(SPG11):c.6028G>T (p.Asp2010Tyr) rs1060501171 0.00003
NM_025137.4(SPG11):c.6062G>A (p.Arg2021Gln) rs375420533 0.00003
NM_025137.4(SPG11):c.6091C>G (p.Arg2031Gly) rs147713329 0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_025137.4(SPG11):c.616dup (p.Thr206fs) rs756103019 0.00003
NM_025137.4(SPG11):c.6176G>A (p.Arg2059Gln) rs757619567 0.00003
NM_025137.4(SPG11):c.634A>G (p.Ile212Val) rs758638438 0.00003
NM_025137.4(SPG11):c.6402C>T (p.Gly2134=) rs745801884 0.00003
NM_025137.4(SPG11):c.6481C>T (p.Arg2161Trp) rs773954273 0.00003
NM_025137.4(SPG11):c.6586-8C>T rs778033975 0.00003
NM_025137.4(SPG11):c.6621C>G (p.Ile2207Met) rs758008249 0.00003
NM_025137.4(SPG11):c.66G>A (p.Met22Ile) rs1168936368 0.00003
NM_025137.4(SPG11):c.6766A>C (p.Lys2256Gln) rs771589139 0.00003
NM_025137.4(SPG11):c.6851G>A (p.Cys2284Tyr) rs760841252 0.00003
NM_025137.4(SPG11):c.6857G>A (p.Arg2286Gln) rs370773328 0.00003
NM_025137.4(SPG11):c.6864_6866dup (p.Ala2288_Gln2289insHis) rs1331704584 0.00003
NM_025137.4(SPG11):c.7152-7T>A rs759692377 0.00003
NM_025137.4(SPG11):c.7245A>T (p.Ala2415=) rs774478465 0.00003
NM_025137.4(SPG11):c.7302T>C (p.Gly2434=) rs1051055977 0.00003
NM_025137.4(SPG11):c.89T>G (p.Leu30Trp) rs750684185 0.00003
NM_025137.4(SPG11):c.937G>A (p.Val313Ile) rs533492925 0.00003
NM_031448.6(C19orf12):c.-10-5C>T rs546546532 0.00003
NM_031448.6(C19orf12):c.-2C>T rs397514477 0.00003
NM_031448.6(C19orf12):c.384C>T (p.Tyr128=) rs769604905 0.00003
NM_152415.3(VPS37A):c.969+6A>G rs757678084 0.00003
NM_001010867.4(IBA57):c.138G>C (p.Ala46=) rs1037373507 0.00002
NM_001010867.4(IBA57):c.342-7C>A rs368007738 0.00002
NM_001010867.4(IBA57):c.766A>T (p.Thr256Ser) rs539057206 0.00002
NM_001010867.4(IBA57):c.866C>T (p.Pro289Leu) rs770987687 0.00002
NM_001166114.2(PNPLA6):c.1005C>T (p.His335=) rs769241929 0.00002
NM_001166114.2(PNPLA6):c.1006-9T>C rs1226486078 0.00002
NM_001166114.2(PNPLA6):c.1181A>G (p.Lys394Arg) rs764509267 0.00002
NM_001166114.2(PNPLA6):c.139C>T (p.Pro47Ser) rs777579622 0.00002
NM_001166114.2(PNPLA6):c.1531-15C>A rs771909480 0.00002
NM_001166114.2(PNPLA6):c.1782C>T (p.Thr594=) rs777094653 0.00002
NM_001166114.2(PNPLA6):c.2028G>A (p.Lys676=) rs779751590 0.00002
NM_001166114.2(PNPLA6):c.2093C>G (p.Pro698Arg) rs2023619514 0.00002
NM_001166114.2(PNPLA6):c.2400C>T (p.Ile800=) rs558598120 0.00002
NM_001166114.2(PNPLA6):c.2405C>T (p.Pro802Leu) rs1009954378 0.00002
NM_001166114.2(PNPLA6):c.2466-15C>G rs752644597 0.00002
NM_001166114.2(PNPLA6):c.2483del (p.Leu828fs) rs756542477 0.00002
NM_001166114.2(PNPLA6):c.2488G>C (p.Gly830Arg) rs1244234383 0.00002
NM_001166114.2(PNPLA6):c.2529C>G (p.Leu843=) rs770688190 0.00002
NM_001166114.2(PNPLA6):c.294T>C (p.Tyr98=) rs750173009 0.00002
NM_001166114.2(PNPLA6):c.2967A>G (p.Ala989=) rs778046695 0.00002
NM_001166114.2(PNPLA6):c.2985C>T (p.Val995=) rs572115607 0.00002
NM_001166114.2(PNPLA6):c.3094-18C>T rs370149053 0.00002
NM_001166114.2(PNPLA6):c.3094-9T>G rs769489792 0.00002
NM_001166114.2(PNPLA6):c.3105G>A (p.Ser1035=) rs779667737 0.00002
NM_001166114.2(PNPLA6):c.315+19G>C rs746162865 0.00002
NM_001166114.2(PNPLA6):c.3304G>A (p.Ala1102Thr) rs1236012815 0.00002
NM_001166114.2(PNPLA6):c.3344A>G (p.Asp1115Gly) rs762434726 0.00002
NM_001166114.2(PNPLA6):c.3354C>T (p.Asp1118=) rs765884981 0.00002
NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg) rs773955314 0.00002
NM_001166114.2(PNPLA6):c.3439A>G (p.Ile1147Val) rs754198302 0.00002
NM_001166114.2(PNPLA6):c.3480C>T (p.Tyr1160=) rs200236935 0.00002
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser) rs142422525 0.00002
NM_001166114.2(PNPLA6):c.3510G>A (p.Leu1170=) rs762829297 0.00002
NM_001166114.2(PNPLA6):c.357C>T (p.Ser119=) rs143109037 0.00002
NM_001166114.2(PNPLA6):c.367C>A (p.Arg123=) rs201894083 0.00002
NM_001166114.2(PNPLA6):c.3688G>A (p.Asp1230Asn) rs747752100 0.00002
NM_001166114.2(PNPLA6):c.3699+19C>T rs749392504 0.00002
NM_001166114.2(PNPLA6):c.3718G>A (p.Gly1240Arg) rs769927461 0.00002
NM_001166114.2(PNPLA6):c.3728T>C (p.Val1243Ala) rs760045636 0.00002
NM_001166114.2(PNPLA6):c.3739T>C (p.Trp1247Arg) rs768125081 0.00002
NM_001166114.2(PNPLA6):c.3744C>G (p.Ser1248Arg) rs1000008449 0.00002
NM_001166114.2(PNPLA6):c.3745C>T (p.Arg1249Cys) rs562876825 0.00002
NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His) rs760038069 0.00002
NM_001166114.2(PNPLA6):c.3779G>A (p.Arg1260Gln) rs758242525 0.00002
NM_001166114.2(PNPLA6):c.3816C>T (p.Asp1272=) rs531640488 0.00002
NM_001166114.2(PNPLA6):c.3868C>T (p.Arg1290Trp) rs369159451 0.00002
NM_001166114.2(PNPLA6):c.3901G>A (p.Gly1301Ser) rs1350448949 0.00002
NM_001166114.2(PNPLA6):c.3969G>A (p.Ser1323=) rs141360025 0.00002
NM_001166114.2(PNPLA6):c.3996C>T (p.Gly1332=) rs775120459 0.00002
NM_001166114.2(PNPLA6):c.4024-11T>G rs752929790 0.00002
NM_001166114.2(PNPLA6):c.4051C>T (p.Arg1351Ter) rs370033046 0.00002
NM_001166114.2(PNPLA6):c.4054C>T (p.Arg1352Cys) rs1204274988 0.00002
NM_001166114.2(PNPLA6):c.414-12C>T rs1360560485 0.00002
NM_001166114.2(PNPLA6):c.636C>T (p.Tyr212=) rs747896630 0.00002
NM_001166114.2(PNPLA6):c.649G>A (p.Gly217Ser) rs150620708 0.00002
NM_001166114.2(PNPLA6):c.796-3C>T rs756266429 0.00002
NM_001166114.2(PNPLA6):c.879C>T (p.Ser293=) rs766312635 0.00002
NM_001166114.2(PNPLA6):c.881C>T (p.Ala294Val) rs756180538 0.00002
NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter) rs769873284 0.00002
NM_001351169.2(NT5C2):c.1685A>G (p.Ter562=) rs536377819 0.00002
NM_001368809.2(AMPD2):c.-112G>A rs759948714 0.00002
NM_001368809.2(AMPD2):c.1050G>A (p.Val350=) rs758064430 0.00002
NM_001368809.2(AMPD2):c.1203G>A (p.Thr401=) rs756936910 0.00002
NM_001368809.2(AMPD2):c.1276-4C>T rs769541378 0.00002
NM_001368809.2(AMPD2):c.143C>T (p.Pro48Leu) rs770051774 0.00002
NM_001368809.2(AMPD2):c.1673C>T (p.Pro558Leu) rs780742359 0.00002
NM_001368809.2(AMPD2):c.175C>T (p.Leu59Phe) rs766037337 0.00002
NM_001368809.2(AMPD2):c.1862+10C>T rs371378180 0.00002
NM_001368809.2(AMPD2):c.223-5C>A rs764953041 0.00002
NM_001368809.2(AMPD2):c.353+10G>A rs1269768577 0.00002
NM_001368809.2(AMPD2):c.841C>T (p.Arg281Cys) rs769550203 0.00002
NM_001368809.2(AMPD2):c.928G>A (p.Ala310Thr) rs747438024 0.00002
NM_001776.6(ENTPD1):c.1189-17C>T rs750828209 0.00002
NM_001776.6(ENTPD1):c.1251C>T (p.Thr417=) rs774254302 0.00002
NM_001776.6(ENTPD1):c.1339G>A (p.Asp447Asn) rs1312380068 0.00002
NM_001776.6(ENTPD1):c.1342G>A (p.Ala448Thr) rs768179232 0.00002
NM_001776.6(ENTPD1):c.691G>A (p.Glu231Lys) rs754284810 0.00002
NM_002361.4(MAG):c.111C>T (p.Cys37=) rs540917777 0.00002
NM_002361.4(MAG):c.1456G>A (p.Val486Ile) rs142036180 0.00002
NM_002361.4(MAG):c.1760G>A (p.Arg587Gln) rs201094395 0.00002
NM_002361.4(MAG):c.1777C>G (p.Leu593Val) rs752836680 0.00002
NM_002361.4(MAG):c.1842G>A (p.Thr614=) rs768107293 0.00002
NM_002361.4(MAG):c.905T>A (p.Val302Asp) rs76943436 0.00002
NM_002860.4(ALDH18A1):c.1198C>T (p.Arg400Cys) rs907590719 0.00002
NM_002860.4(ALDH18A1):c.1358G>A (p.Arg453His) rs765122458 0.00002
NM_002860.4(ALDH18A1):c.1366C>T (p.Arg456Cys) rs763868475 0.00002
NM_002860.4(ALDH18A1):c.1367G>A (p.Arg456His) rs760865106 0.00002
NM_002860.4(ALDH18A1):c.183C>T (p.Phe61=) rs375400820 0.00002
NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile) rs375705932 0.00002
NM_002860.4(ALDH18A1):c.2109C>T (p.Asp703=) rs779516879 0.00002
NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=) rs1002367939 0.00002
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) rs537043237 0.00002
NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met) rs369153920 0.00002
NM_002860.4(ALDH18A1):c.231C>T (p.Leu77=) rs1278292461 0.00002
NM_002860.4(ALDH18A1):c.2361C>T (p.Leu787=) rs377506019 0.00002
NM_002860.4(ALDH18A1):c.454-9A>G rs775098819 0.00002
NM_002860.4(ALDH18A1):c.465C>T (p.Val155=) rs545084277 0.00002
NM_002860.4(ALDH18A1):c.599G>A (p.Arg200His) rs746256246 0.00002
NM_002860.4(ALDH18A1):c.786G>C (p.Leu262Phe) rs1380580792 0.00002
NM_002860.4(ALDH18A1):c.966C>T (p.Gly322=) rs754882491 0.00002
NM_006070.6(TFG):c.1048G>A (p.Ala350Thr) rs543542721 0.00002
NM_006070.6(TFG):c.1172G>T (p.Gly391Val) rs1214775332 0.00002
NM_006070.6(TFG):c.225C>G (p.Ser75=) rs747353898 0.00002
NM_006070.6(TFG):c.391C>T (p.Pro131Ser) rs770053266 0.00002
NM_006070.6(TFG):c.401A>G (p.Asn134Ser) rs768746409 0.00002
NM_006070.6(TFG):c.464A>G (p.Lys155Arg) rs966574827 0.00002
NM_006070.6(TFG):c.544A>C (p.Met182Leu) rs755242228 0.00002
NM_006070.6(TFG):c.64C>T (p.Arg22Trp) rs989357227 0.00002
NM_006070.6(TFG):c.738G>C (p.Gln246His) rs370273888 0.00002
NM_006070.6(TFG):c.771G>A (p.Gln257=) rs374006808 0.00002
NM_006070.6(TFG):c.828T>C (p.Tyr276=) rs372641906 0.00002
NM_006612.6(KIF1C):c.1023T>C (p.Tyr341=) rs758863136 0.00002
NM_006612.6(KIF1C):c.1038G>A (p.Lys346=) rs753267733 0.00002
NM_006612.6(KIF1C):c.1336-10A>T rs543096465 0.00002
NM_006612.6(KIF1C):c.1571+5C>T rs191292171 0.00002
NM_006612.6(KIF1C):c.1794C>A (p.Asn598Lys) rs1371284245 0.00002
NM_006612.6(KIF1C):c.1959G>A (p.Gln653=) rs759048539 0.00002
NM_006612.6(KIF1C):c.2303G>A (p.Arg768Gln) rs552440254 0.00002
NM_006612.6(KIF1C):c.2368G>A (p.Asp790Asn) rs764241869 0.00002
NM_006612.6(KIF1C):c.2694A>G (p.Ala898=) rs773159298 0.00002
NM_006612.6(KIF1C):c.2989G>A (p.Gly997Arg) rs774701979 0.00002
NM_006612.6(KIF1C):c.3277G>A (p.Ala1093Thr) rs1269241991 0.00002
NM_006612.6(KIF1C):c.499C>T (p.Arg167Trp) rs185479618 0.00002
NM_006612.6(KIF1C):c.531C>T (p.Tyr177=) rs760890403 0.00002
NM_006702.5(PNPLA6):c.2T>C (p.Met1Thr) rs765249233 0.00002
NM_012073.5(CCT5):c.1050C>T (p.Ala350=) rs751586130 0.00002
NM_012073.5(CCT5):c.1199G>T (p.Arg400Leu) rs749310473 0.00002
NM_012073.5(CCT5):c.1316A>C (p.Lys439Thr) rs768671276 0.00002
NM_012073.5(CCT5):c.1378A>G (p.Met460Val) rs780975626 0.00002
NM_012073.5(CCT5):c.1379T>C (p.Met460Thr) rs376067681 0.00002
NM_012073.5(CCT5):c.1391A>G (p.Glu464Gly) rs770386557 0.00002
NM_012073.5(CCT5):c.487G>A (p.Glu163Lys) rs552008894 0.00002
NM_012073.5(CCT5):c.648C>T (p.Gly216=) rs754143874 0.00002
NM_012073.5(CCT5):c.651C>A (p.Gly217=) rs145578766 0.00002
NM_012073.5(CCT5):c.87G>A (p.Met29Ile) rs1355138785 0.00002
NM_014844.5(TECPR2):c.1254C>T (p.Ser418=) rs755291214 0.00002
NM_014844.5(TECPR2):c.1270C>T (p.Pro424Ser) rs770753468 0.00002
NM_014844.5(TECPR2):c.1334A>G (p.Asn445Ser) rs758980397 0.00002
NM_014844.5(TECPR2):c.162C>T (p.Ile54=) rs761145715 0.00002
NM_014844.5(TECPR2):c.1788A>G (p.Gly596=) rs1330988861 0.00002
NM_014844.5(TECPR2):c.1791C>T (p.Leu597=) rs757180768 0.00002
NM_014844.5(TECPR2):c.2157G>A (p.Gly719=) rs142899668 0.00002
NM_014844.5(TECPR2):c.2373C>T (p.Ala791=) rs768578616 0.00002
NM_014844.5(TECPR2):c.2518G>A (p.Ala840Thr) rs906936247 0.00002
NM_014844.5(TECPR2):c.2695C>T (p.Leu899=) rs369623093 0.00002
NM_014844.5(TECPR2):c.2697G>A (p.Leu899=) rs755040646 0.00002
NM_014844.5(TECPR2):c.2871G>A (p.Leu957=) rs770910435 0.00002
NM_014844.5(TECPR2):c.2875C>T (p.Arg959Trp) rs762185786 0.00002
NM_014844.5(TECPR2):c.2934-9T>G rs956894657 0.00002
NM_014844.5(TECPR2):c.3000C>T (p.Asp1000=) rs200626084 0.00002
NM_014844.5(TECPR2):c.3243C>T (p.Leu1081=) rs754697484 0.00002
NM_014844.5(TECPR2):c.3360T>A (p.Ala1120=) rs774314281 0.00002
NM_014844.5(TECPR2):c.348+11A>G rs750080249 0.00002
NM_014844.5(TECPR2):c.3641-7T>C rs762487398 0.00002
NM_014844.5(TECPR2):c.3810C>T (p.Val1270=) rs758917510 0.00002
NM_014844.5(TECPR2):c.3891C>T (p.Thr1297=) rs557028665 0.00002
NM_014844.5(TECPR2):c.4056T>A (p.Ile1352=) rs749936924 0.00002
NM_014844.5(TECPR2):c.4060G>A (p.Gly1354Ser) rs755603975 0.00002
NM_014844.5(TECPR2):c.4188C>T (p.Ala1396=) rs113941655 0.00002
NM_014844.5(TECPR2):c.786C>T (p.Ala262=) rs764422441 0.00002
NM_014844.5(TECPR2):c.933C>T (p.Leu311=) rs374689078 0.00002
NM_014844.5(TECPR2):c.952-6T>G rs1175273131 0.00002
NM_014844.5(TECPR2):c.9G>A (p.Ser3=) rs757589409 0.00002
NM_015214.3(DDHD2):c.1023C>T (p.Phe341=) rs372428685 0.00002
NM_015214.3(DDHD2):c.1546C>T (p.Arg516Ter) rs373856119 0.00002
NM_015214.3(DDHD2):c.1547G>A (p.Arg516Gln) rs1475417610 0.00002
NM_015214.3(DDHD2):c.2080G>A (p.Val694Ile) rs370808506 0.00002
NM_015214.3(DDHD2):c.267T>C (p.Tyr89=) rs1206039082 0.00002
NM_015214.3(DDHD2):c.370A>G (p.Lys124Glu) rs191787470 0.00002
NM_015214.3(DDHD2):c.375T>C (p.Tyr125=) rs201640343 0.00002
NM_015214.3(DDHD2):c.608T>C (p.Val203Ala) rs755852058 0.00002
NM_015214.3(DDHD2):c.688C>T (p.Arg230Cys) rs764149817 0.00002
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys) rs1380005347 0.00002
NM_015214.3(DDHD2):c.725G>A (p.Arg242His) rs767497993 0.00002
NM_015214.3(DDHD2):c.902A>G (p.Asn301Ser) rs749254491 0.00002
NM_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys) rs770576740 0.00002
NM_022089.4(ATP13A2):c.1189C>T (p.Arg397Cys) rs748309608 0.00002
NM_022089.4(ATP13A2):c.1196-9C>T rs747077419 0.00002
NM_022089.4(ATP13A2):c.1307-14C>T rs370771306 0.00002
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe) rs772446950 0.00002
NM_022089.4(ATP13A2):c.1341C>T (p.Leu447=) rs1032082452 0.00002
NM_022089.4(ATP13A2):c.1399G>A (p.Val467Met) rs760443267 0.00002
NM_022089.4(ATP13A2):c.1442C>T (p.Thr481Met) rs752000462 0.00002
NM_022089.4(ATP13A2):c.1633C>T (p.Arg545Cys) rs750152147 0.00002
NM_022089.4(ATP13A2):c.1667C>T (p.Ala556Val) rs760021599 0.00002
NM_022089.4(ATP13A2):c.1704C>T (p.Pro568=) rs200868484 0.00002
NM_022089.4(ATP13A2):c.1831C>A (p.Gln611Lys) rs770682887 0.00002
NM_022089.4(ATP13A2):c.1847A>C (p.Glu616Ala) rs558165485 0.00002
NM_022089.4(ATP13A2):c.1880G>A (p.Arg627His) rs756516383 0.00002
NM_022089.4(ATP13A2):c.1896G>A (p.Ser632=) rs575694238 0.00002
NM_022089.4(ATP13A2):c.1900C>G (p.Leu634Val) rs543531903 0.00002
NM_022089.4(ATP13A2):c.196C>T (p.Arg66Cys) rs768327980 0.00002
NM_022089.4(ATP13A2):c.220C>T (p.Arg74Trp) rs753087058 0.00002
NM_022089.4(ATP13A2):c.221G>A (p.Arg74Gln) rs767725094 0.00002
NM_022089.4(ATP13A2):c.2251+6A>C rs773458244 0.00002
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln) rs766899425 0.00002
NM_022089.4(ATP13A2):c.2368G>A (p.Glu790Lys) rs754208001 0.00002
NM_022089.4(ATP13A2):c.244C>T (p.Leu82=) rs761558105 0.00002
NM_022089.4(ATP13A2):c.2634C>T (p.Asp878=) rs556418739 0.00002
NM_022089.4(ATP13A2):c.2723C>T (p.Ser908Leu) rs763069105 0.00002
NM_022089.4(ATP13A2):c.2797G>A (p.Val933Ile) rs370356637 0.00002
NM_022089.4(ATP13A2):c.3001G>A (p.Val1001Met) rs749677780 0.00002
NM_022089.4(ATP13A2):c.3218G>A (p.Arg1073Gln) rs747907490 0.00002
NM_022089.4(ATP13A2):c.3405+10G>A rs375485447 0.00002
NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln) rs772666861 0.00002
NM_022089.4(ATP13A2):c.395C>T (p.Ala132Val) rs764125787 0.00002
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp) rs199624796 0.00002
NM_022089.4(ATP13A2):c.518A>G (p.Tyr173Cys) rs376963085 0.00002
NM_022089.4(ATP13A2):c.585C>T (p.Asp195=) rs765706877 0.00002
NM_022089.4(ATP13A2):c.595C>T (p.Arg199Cys) rs754074592 0.00002
NM_022089.4(ATP13A2):c.656A>G (p.Asn219Ser) rs776406555 0.00002
NM_022089.4(ATP13A2):c.777C>T (p.Tyr259=) rs780133367 0.00002
NM_022089.4(ATP13A2):c.878T>C (p.Met293Thr) rs772414750 0.00002
NM_022089.4(ATP13A2):c.889G>A (p.Val297Met) rs771174890 0.00002
NM_022089.4(ATP13A2):c.975G>A (p.Gly325=) rs915404570 0.00002
NM_025137.4(SPG11):c.1178A>G (p.His393Arg) rs144038708 0.00002
NM_025137.4(SPG11):c.1182G>A (p.Gly394=) rs199968487 0.00002
NM_025137.4(SPG11):c.1214A>C (p.Lys405Thr) rs756326438 0.00002
NM_025137.4(SPG11):c.1269A>G (p.Glu423=) rs776092174 0.00002
NM_025137.4(SPG11):c.1619G>A (p.Arg540His) rs750200448 0.00002
NM_025137.4(SPG11):c.1689T>G (p.Ser563=) rs748537508 0.00002
NM_025137.4(SPG11):c.1736-18T>G rs771518380 0.00002
NM_025137.4(SPG11):c.176C>T (p.Ala59Val) rs552320263 0.00002
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter) rs199588440 0.00002
NM_025137.4(SPG11):c.1965A>T (p.Ile655=) rs146415287 0.00002
NM_025137.4(SPG11):c.2008G>A (p.Val670Ile) rs761249365 0.00002
NM_025137.4(SPG11):c.2039G>T (p.Ser680Ile) rs745860301 0.00002
NM_025137.4(SPG11):c.206C>T (p.Thr69Met) rs764422997 0.00002
NM_025137.4(SPG11):c.2145T>C (p.Ala715=) rs761155521 0.00002
NM_025137.4(SPG11):c.2228A>G (p.Glu743Gly) rs199617257 0.00002
NM_025137.4(SPG11):c.2280C>T (p.Cys760=) rs567932275 0.00002
NM_025137.4(SPG11):c.2285A>G (p.Tyr762Cys) rs747681565 0.00002
NM_025137.4(SPG11):c.2299A>G (p.Asn767Asp) rs370774571 0.00002
NM_025137.4(SPG11):c.2306G>A (p.Arg769His) rs368151745 0.00002
NM_025137.4(SPG11):c.2317-13C>G rs372670941 0.00002
NM_025137.4(SPG11):c.2444+13G>C rs1347072799 0.00002
NM_025137.4(SPG11):c.2561C>T (p.Ala854Val) rs758923470 0.00002
NM_025137.4(SPG11):c.258-2A>C rs781665076 0.00002
NM_025137.4(SPG11):c.2621-12T>G rs775433435 0.00002
NM_025137.4(SPG11):c.2767G>C (p.Asp923His) rs910680613 0.00002
NM_025137.4(SPG11):c.2768A>G (p.Asp923Gly) rs772514266 0.00002
NM_025137.4(SPG11):c.2834+6A>G rs766369623 0.00002
NM_025137.4(SPG11):c.3095C>T (p.Pro1032Leu) rs141106870 0.00002
NM_025137.4(SPG11):c.3145+11A>C rs750642025 0.00002
NM_025137.4(SPG11):c.3146-6T>G rs777849932 0.00002
NM_025137.4(SPG11):c.3291+9A>G rs769740604 0.00002
NM_025137.4(SPG11):c.3394C>T (p.Pro1132Ser) rs891639488 0.00002
NM_025137.4(SPG11):c.3687-11T>G rs967897890 0.00002
NM_025137.4(SPG11):c.4041G>A (p.Val1347=) rs377066151 0.00002
NM_025137.4(SPG11):c.411A>G (p.Ala137=) rs1438909897 0.00002
NM_025137.4(SPG11):c.4122C>T (p.Phe1374=) rs1194478318 0.00002
NM_025137.4(SPG11):c.4435-8C>T rs745830340 0.00002
NM_025137.4(SPG11):c.443G>A (p.Ser148Asn) rs141990871 0.00002
NM_025137.4(SPG11):c.4643C>T (p.Pro1548Leu) rs368706788 0.00002
NM_025137.4(SPG11):c.4746_4747insTG (p.Asn1583Ter) rs764186203 0.00002
NM_025137.4(SPG11):c.4798G>A (p.Asp1600Asn) rs770380861 0.00002
NM_025137.4(SPG11):c.483T>C (p.Asn161=) rs772205877 0.00002
NM_025137.4(SPG11):c.4940A>G (p.Gln1647Arg) rs1326184542 0.00002
NM_025137.4(SPG11):c.5040G>T (p.Leu1680=) rs748057725 0.00002
NM_025137.4(SPG11):c.5074G>A (p.Val1692Ile) rs764497276 0.00002
NM_025137.4(SPG11):c.5120A>G (p.Glu1707Gly) rs747956329 0.00002
NM_025137.4(SPG11):c.5201G>T (p.Cys1734Phe) rs780601824 0.00002
NM_025137.4(SPG11):c.5223T>C (p.Asn1741=) rs202244309 0.00002
NM_025137.4(SPG11):c.5407C>T (p.Leu1803=) rs200102584 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025137.4(SPG11):c.5635A>C (p.Asn1879His) rs759595222 0.00002
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln) rs768303307 0.00002
NM_025137.4(SPG11):c.5724C>T (p.Val1908=) rs369869911 0.00002
NM_025137.4(SPG11):c.5790G>T (p.Glu1930Asp) rs972738967 0.00002
NM_025137.4(SPG11):c.5839G>A (p.Asp1947Asn) rs751801619 0.00002
NM_025137.4(SPG11):c.5907C>T (p.Ser1969=) rs759132764 0.00002
NM_025137.4(SPG11):c.6013G>A (p.Gly2005Ser) rs776764189 0.00002
NM_025137.4(SPG11):c.617C>T (p.Thr206Met) rs763340583 0.00002
NM_025137.4(SPG11):c.6205+14C>T rs766366279 0.00002
NM_025137.4(SPG11):c.6250C>T (p.Leu2084Phe) rs754874642 0.00002
NM_025137.4(SPG11):c.6277C>T (p.Arg2093Cys) rs772336846 0.00002
NM_025137.4(SPG11):c.6497T>C (p.Ile2166Thr) rs199873327 0.00002
NM_025137.4(SPG11):c.6502A>G (p.Arg2168Gly) rs371301157 0.00002
NM_025137.4(SPG11):c.6539A>T (p.His2180Leu) rs1470051584 0.00002
NM_025137.4(SPG11):c.6561G>A (p.Val2187=) rs376951822 0.00002
NM_025137.4(SPG11):c.668-12T>A rs373742527 0.00002
NM_025137.4(SPG11):c.6719G>A (p.Arg2240His) rs766384717 0.00002
NM_025137.4(SPG11):c.6736A>G (p.Ile2246Val) rs770110397 0.00002
NM_025137.4(SPG11):c.6737T>C (p.Ile2246Thr) rs762209905 0.00002
NM_025137.4(SPG11):c.6738T>G (p.Ile2246Met) rs776998679 0.00002
NM_025137.4(SPG11):c.6810T>C (p.Thr2270=) rs750460016 0.00002
NM_025137.4(SPG11):c.6844-19C>G rs539232104 0.00002
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His) rs768408465 0.00002
NM_025137.4(SPG11):c.7013C>T (p.Ala2338Val) rs368902742 0.00002
NM_025137.4(SPG11):c.7034C>T (p.Pro2345Leu) rs748206574 0.00002
NM_025137.4(SPG11):c.704_705del (p.His235fs) rs312262719 0.00002
NM_025137.4(SPG11):c.7092G>A (p.Leu2364=) rs1312904222 0.00002
NM_025137.4(SPG11):c.7177A>T (p.Met2393Leu) rs888840813 0.00002
NM_025137.4(SPG11):c.7212T>C (p.Tyr2404=) rs1288255586 0.00002
NM_025137.4(SPG11):c.732C>T (p.Asp244=) rs745572647 0.00002
NM_025137.4(SPG11):c.737G>A (p.Cys246Tyr) rs376828731 0.00002
NM_025137.4(SPG11):c.756G>A (p.Glu252=) rs762704140 0.00002
NM_025137.4(SPG11):c.820G>A (p.Val274Ile) rs543316224 0.00002
NM_025137.4(SPG11):c.837C>T (p.Ser279=) rs563928976 0.00002
NM_025137.4(SPG11):c.891G>A (p.Leu297=) rs765967405 0.00002
NM_025137.4(SPG11):c.968A>G (p.Tyr323Cys) rs190718076 0.00002
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg) rs200133991 0.00002
NM_031448.6(C19orf12):c.312C>T (p.Ala104=) rs749962129 0.00002
NM_031448.6(C19orf12):c.400C>T (p.Arg134Trp) rs1176245027 0.00002
NM_152415.3(VPS37A):c.162G>A (p.Leu54=) rs753795332 0.00002
NM_152415.3(VPS37A):c.421T>C (p.Tyr141His) rs753491148 0.00002
NM_152415.3(VPS37A):c.802G>A (p.Asp268Asn) rs574438273 0.00002
NM_152415.3(VPS37A):c.812A>G (p.Asp271Gly) rs768941323 0.00002
NM_001010867.4(IBA57):c.190C>A (p.Pro64Thr) rs755628436 0.00001
NM_001010867.4(IBA57):c.206T>C (p.Phe69Ser) rs778284446 0.00001
NM_001010867.4(IBA57):c.227A>G (p.Asn76Ser) rs1168294957 0.00001
NM_001010867.4(IBA57):c.262G>A (p.Ala88Thr) rs1186238890 0.00001
NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu) rs1191467500 0.00001
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp) rs1298056442 0.00001
NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp) rs775646159 0.00001
NM_001010867.4(IBA57):c.471G>A (p.Leu157=) rs540662509 0.00001
NM_001010867.4(IBA57):c.566C>T (p.Pro189Leu) rs1403342810 0.00001
NM_001010867.4(IBA57):c.577C>T (p.Arg193Cys) rs1324456932 0.00001
NM_001010867.4(IBA57):c.589C>T (p.Arg197Trp) rs368114681 0.00001
NM_001010867.4(IBA57):c.639C>T (p.Leu213=) rs751616087 0.00001
NM_001010867.4(IBA57):c.706C>G (p.Pro236Ala) rs769063859 0.00001
NM_001010867.4(IBA57):c.826C>T (p.Arg276Cys) rs143575106 0.00001
NM_001010867.4(IBA57):c.827G>A (p.Arg276His) rs1245306816 0.00001
NM_001010867.4(IBA57):c.85T>G (p.Cys29Gly) rs951070079 0.00001
NM_001010867.4(IBA57):c.955C>T (p.Leu319=) rs186655921 0.00001
NM_001166114.2(PNPLA6):c.1002C>T (p.Ser334=) rs747703454 0.00001
NM_001166114.2(PNPLA6):c.1005+8G>A rs368417668 0.00001
NM_001166114.2(PNPLA6):c.1038C>T (p.Pro346=) rs1173980380 0.00001
NM_001166114.2(PNPLA6):c.1060C>G (p.Pro354Ala) rs1309856946 0.00001
NM_001166114.2(PNPLA6):c.1069G>A (p.Gly357Ser) rs753225629 0.00001
NM_001166114.2(PNPLA6):c.1079G>A (p.Arg360Lys) rs948393107 0.00001
NM_001166114.2(PNPLA6):c.1124G>A (p.Gly375Glu) rs1163920380 0.00001
NM_001166114.2(PNPLA6):c.1135G>A (p.Asp379Asn) rs1372004040 0.00001
NM_001166114.2(PNPLA6):c.1143C>T (p.Thr381=) rs763107646 0.00001
NM_001166114.2(PNPLA6):c.1147G>A (p.Ala383Thr) rs774683671 0.00001
NM_001166114.2(PNPLA6):c.1200C>A (p.Thr400=) rs929650463 0.00001
NM_001166114.2(PNPLA6):c.1203C>A (p.Pro401=) rs546470199 0.00001
NM_001166114.2(PNPLA6):c.1212T>C (p.Pro404=) rs748049105 0.00001
NM_001166114.2(PNPLA6):c.1213C>T (p.Leu405=) rs900654242 0.00001
NM_001166114.2(PNPLA6):c.1221C>T (p.Ser407=) rs1490391922 0.00001
NM_001166114.2(PNPLA6):c.1227C>T (p.Cys409=) rs1032668743 0.00001
NM_001166114.2(PNPLA6):c.1253-9T>C rs780231524 0.00001
NM_001166114.2(PNPLA6):c.1290C>T (p.Ala430=) rs763990023 0.00001
NM_001166114.2(PNPLA6):c.1304G>A (p.Arg435Gln) rs376174058 0.00001
NM_001166114.2(PNPLA6):c.131C>T (p.Pro44Leu) rs372169542 0.00001
NM_001166114.2(PNPLA6):c.1336G>C (p.Gly446Arg) rs573529919 0.00001
NM_001166114.2(PNPLA6):c.1361G>A (p.Arg454Gln) rs370626406 0.00001
NM_001166114.2(PNPLA6):c.1378C>T (p.Pro460Ser) rs757610420 0.00001
NM_001166114.2(PNPLA6):c.148C>T (p.Leu50Phe) rs770929257 0.00001
NM_001166114.2(PNPLA6):c.1523G>A (p.Arg508Gln) rs370094298 0.00001
NM_001166114.2(PNPLA6):c.1530+16G>T rs955181846 0.00001
NM_001166114.2(PNPLA6):c.1531-14C>T rs531317475 0.00001
NM_001166114.2(PNPLA6):c.1537T>G (p.Ser513Ala) rs1306308836 0.00001
NM_001166114.2(PNPLA6):c.1538C>T (p.Ser513Phe) rs1351660925 0.00001
NM_001166114.2(PNPLA6):c.1554A>G (p.Arg518=) rs201805444 0.00001
NM_001166114.2(PNPLA6):c.1569C>T (p.His523=) rs753311777 0.00001
NM_001166114.2(PNPLA6):c.1570G>A (p.Ala524Thr) rs763642095 0.00001
NM_001166114.2(PNPLA6):c.1593C>T (p.Ala531=) rs778704836 0.00001
NM_001166114.2(PNPLA6):c.1595G>A (p.Arg532His) rs374297942 0.00001
NM_001166114.2(PNPLA6):c.1621C>T (p.His541Tyr) rs1050752297 0.00001
NM_001166114.2(PNPLA6):c.1647C>T (p.His549=) rs1203825341 0.00001
NM_001166114.2(PNPLA6):c.1686C>T (p.Cys562=) rs1376335368 0.00001
NM_001166114.2(PNPLA6):c.1696G>A (p.Ala566Thr) rs200855333 0.00001
NM_001166114.2(PNPLA6):c.1707G>A (p.Gly569=) rs369854428 0.00001
NM_001166114.2(PNPLA6):c.1740C>T (p.Gly580=) rs752720134 0.00001
NM_001166114.2(PNPLA6):c.1759C>G (p.Leu587Val) rs757260835 0.00001
NM_001166114.2(PNPLA6):c.1794C>T (p.Ile598=) rs769141895 0.00001
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) rs568356836 0.00001
NM_001166114.2(PNPLA6):c.1876T>G (p.Ser626Ala) rs1484050135 0.00001
NM_001166114.2(PNPLA6):c.1946+17G>A rs745446485 0.00001
NM_001166114.2(PNPLA6):c.1947-10G>T rs1442071919 0.00001
NM_001166114.2(PNPLA6):c.1947-4T>A rs1345358439 0.00001
NM_001166114.2(PNPLA6):c.2001C>T (p.Ser667=) rs2023599428 0.00001
NM_001166114.2(PNPLA6):c.2016del (p.Ser673fs) rs765221332 0.00001
NM_001166114.2(PNPLA6):c.2071-11C>G rs1473177184 0.00001
NM_001166114.2(PNPLA6):c.2107G>T (p.Val703Leu) rs979155811 0.00001
NM_001166114.2(PNPLA6):c.2112C>T (p.His704=) rs539949077 0.00001
NM_001166114.2(PNPLA6):c.2115G>C (p.Ala705=) rs769646919 0.00001
NM_001166114.2(PNPLA6):c.2127G>A (p.Thr709=) rs2023621489 0.00001
NM_001166114.2(PNPLA6):c.2148G>T (p.Glu716Asp) rs1425497937 0.00001
NM_001166114.2(PNPLA6):c.216G>C (p.Arg72=) rs745769028 0.00001
NM_001166114.2(PNPLA6):c.2184+4C>T rs569845262 0.00001
NM_001166114.2(PNPLA6):c.2260+18C>T rs1211653962 0.00001
NM_001166114.2(PNPLA6):c.226G>A (p.Val76Met) rs749575421 0.00001
NM_001166114.2(PNPLA6):c.2277G>A (p.Val759=) rs1030480370 0.00001
NM_001166114.2(PNPLA6):c.2329A>G (p.Ile777Val) rs752227045 0.00001
NM_001166114.2(PNPLA6):c.233-13C>G rs1286099101 0.00001
NM_001166114.2(PNPLA6):c.233-15C>T rs1320951446 0.00001
NM_001166114.2(PNPLA6):c.233-8A>G rs369490744 0.00001
NM_001166114.2(PNPLA6):c.2344G>A (p.Ala782Thr) rs1354212753 0.00001
NM_001166114.2(PNPLA6):c.2369C>T (p.Thr790Met) rs753592836 0.00001
NM_001166114.2(PNPLA6):c.2370G>A (p.Thr790=) rs1223839797 0.00001
NM_001166114.2(PNPLA6):c.238C>T (p.Pro80Ser) rs772575811 0.00001
NM_001166114.2(PNPLA6):c.2401+6T>C rs368277076 0.00001
NM_001166114.2(PNPLA6):c.2402-11C>A rs756209420 0.00001
NM_001166114.2(PNPLA6):c.2409G>A (p.Thr803=) rs775962215 0.00001
NM_001166114.2(PNPLA6):c.2440C>T (p.Arg814Cys) rs531445564 0.00001
NM_001166114.2(PNPLA6):c.2451C>T (p.Ala817=) rs1354702717 0.00001
NM_001166114.2(PNPLA6):c.2457A>G (p.Ala819=) rs753933888 0.00001
NM_001166114.2(PNPLA6):c.2465+4T>C rs758703848 0.00001
NM_001166114.2(PNPLA6):c.2466C>T (p.Ser822=) rs780346245 0.00001
NM_001166114.2(PNPLA6):c.2503C>G (p.Gln835Glu) rs1001173506 0.00001
NM_001166114.2(PNPLA6):c.2523C>T (p.Ile841=) rs375484169 0.00001
NM_001166114.2(PNPLA6):c.2526A>T (p.Val842=) rs534004578 0.00001
NM_001166114.2(PNPLA6):c.2543C>T (p.Ala848Val) rs760534400 0.00001
NM_001166114.2(PNPLA6):c.261T>C (p.Tyr87=) rs1255862253 0.00001
NM_001166114.2(PNPLA6):c.2632C>G (p.Gln878Glu) rs369420098 0.00001
NM_001166114.2(PNPLA6):c.2709G>A (p.Ala903=) rs1198453694 0.00001
NM_001166114.2(PNPLA6):c.2808T>C (p.Pro936=) rs1159313089 0.00001
NM_001166114.2(PNPLA6):c.2815C>T (p.Leu939=) rs201897212 0.00001
NM_001166114.2(PNPLA6):c.2817+17C>T rs777558728 0.00001
NM_001166114.2(PNPLA6):c.2818-9C>G rs759090007 0.00001
NM_001166114.2(PNPLA6):c.2853G>A (p.Ala951=) rs1257216343 0.00001
NM_001166114.2(PNPLA6):c.288C>T (p.Leu96=) rs764984037 0.00001
NM_001166114.2(PNPLA6):c.2917C>T (p.Leu973=) rs1488307606 0.00001
NM_001166114.2(PNPLA6):c.2928C>T (p.Gly976=) rs553944725 0.00001
NM_001166114.2(PNPLA6):c.2936+10G>T rs968640767 0.00001
NM_001166114.2(PNPLA6):c.2956G>A (p.Val986Ile) rs1400699469 0.00001
NM_001166114.2(PNPLA6):c.2958A>G (p.Val986=) rs752794292 0.00001
NM_001166114.2(PNPLA6):c.3019T>G (p.Ser1007Ala) rs775899903 0.00001
NM_001166114.2(PNPLA6):c.3027C>T (p.Ile1009=) rs746522719 0.00001
NM_001166114.2(PNPLA6):c.3028G>C (p.Gly1010Arg) rs768107851 0.00001
NM_001166114.2(PNPLA6):c.3032C>T (p.Ala1011Val) rs776289656 0.00001
NM_001166114.2(PNPLA6):c.3042G>C (p.Ala1014=) rs769668311 0.00001
NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu) rs541098659 0.00001
NM_001166114.2(PNPLA6):c.3146C>T (p.Ser1049Phe) rs2023885542 0.00001
NM_001166114.2(PNPLA6):c.315+19G>A rs746162865 0.00001
NM_001166114.2(PNPLA6):c.316-2A>T rs148045000 0.00001
NM_001166114.2(PNPLA6):c.3184C>T (p.Arg1062Trp) rs375118832 0.00001
NM_001166114.2(PNPLA6):c.3185G>A (p.Arg1062Gln) rs368449963 0.00001
NM_001166114.2(PNPLA6):c.318G>A (p.Val106=) rs758696482 0.00001
NM_001166114.2(PNPLA6):c.3210+3A>G rs1167974266 0.00001
NM_001166114.2(PNPLA6):c.3211-5C>T rs376209366 0.00001
NM_001166114.2(PNPLA6):c.3220C>T (p.Leu1074=) rs1188314161 0.00001
NM_001166114.2(PNPLA6):c.3281-7C>T rs762489747 0.00001
NM_001166114.2(PNPLA6):c.3293G>A (p.Arg1098Gln) rs756056332 0.00001
NM_001166114.2(PNPLA6):c.3303C>T (p.Arg1101=) rs752861684 0.00001
NM_001166114.2(PNPLA6):c.3314C>T (p.Thr1105Met) rs1202026658 0.00001
NM_001166114.2(PNPLA6):c.3333C>T (p.Pro1111=) rs777073418 0.00001
NM_001166114.2(PNPLA6):c.3339G>A (p.Leu1113=) rs770303471 0.00001
NM_001166114.2(PNPLA6):c.3342C>T (p.Cys1114=) rs972738687 0.00001
NM_001166114.2(PNPLA6):c.3376G>A (p.Gly1126Ser) rs1204028385 0.00001
NM_001166114.2(PNPLA6):c.3402C>T (p.Asp1134=) rs768519069 0.00001
NM_001166114.2(PNPLA6):c.3481G>A (p.Gly1161Arg) rs776490050 0.00001
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln) rs1057517802 0.00001
NM_001166114.2(PNPLA6):c.3540G>A (p.Lys1180=) rs138697761 0.00001
NM_001166114.2(PNPLA6):c.3590C>A (p.Ser1197Tyr) rs746492824 0.00001
NM_001166114.2(PNPLA6):c.3600G>T (p.Arg1200=) rs149359299 0.00001
NM_001166114.2(PNPLA6):c.3633C>T (p.Cys1211=) rs200413993 0.00001
NM_001166114.2(PNPLA6):c.3648G>A (p.Pro1216=) rs765541557 0.00001
NM_001166114.2(PNPLA6):c.3680G>T (p.Gly1227Val) rs780878126 0.00001
NM_001166114.2(PNPLA6):c.3698A>G (p.Tyr1233Cys) rs777550870 0.00001
NM_001166114.2(PNPLA6):c.3700-9T>G rs528382572 0.00001
NM_001166114.2(PNPLA6):c.3703G>A (p.Val1235Met) rs745714280 0.00001
NM_001166114.2(PNPLA6):c.3732T>C (p.Phe1244=) rs967628708 0.00001
NM_001166114.2(PNPLA6):c.3754G>A (p.Val1252Ile) rs753386551 0.00001
NM_001166114.2(PNPLA6):c.3768G>T (p.Met1256Ile) rs878854905 0.00001
NM_001166114.2(PNPLA6):c.3805C>T (p.Arg1269Cys) rs2024064953 0.00001
NM_001166114.2(PNPLA6):c.3816+1G>A rs1490826010 0.00001
NM_001166114.2(PNPLA6):c.3856G>A (p.Glu1286Lys) rs1318719241 0.00001
NM_001166114.2(PNPLA6):c.3869G>A (p.Arg1290Gln) rs764729340 0.00001
NM_001166114.2(PNPLA6):c.3961G>A (p.Asp1321Asn) rs144558473 0.00001
NM_001166114.2(PNPLA6):c.3968C>T (p.Ser1323Leu) rs147822708 0.00001
NM_001166114.2(PNPLA6):c.3991G>A (p.Glu1331Lys) rs371906206 0.00001
NM_001166114.2(PNPLA6):c.3992A>T (p.Glu1331Val) rs771807857 0.00001
NM_001166114.2(PNPLA6):c.4017C>T (p.Ser1339=) rs140501151 0.00001
NM_001166114.2(PNPLA6):c.4046G>A (p.Arg1349Gln) rs368661376 0.00001
NM_001166114.2(PNPLA6):c.4064C>T (p.Pro1355Leu) rs2024101144 0.00001
NM_001166114.2(PNPLA6):c.4083A>C (p.Ser1361=) rs1285522188 0.00001
NM_001166114.2(PNPLA6):c.413+15G>A rs766635130 0.00001
NM_001166114.2(PNPLA6):c.414-3C>G rs1312058418 0.00001
NM_001166114.2(PNPLA6):c.465G>A (p.Pro155=) rs1466764526 0.00001
NM_001166114.2(PNPLA6):c.517C>T (p.Leu173=) rs756791412 0.00001
NM_001166114.2(PNPLA6):c.570C>T (p.Phe190=) rs1007265464 0.00001
NM_001166114.2(PNPLA6):c.599G>A (p.Arg200His) rs749879325 0.00001
NM_001166114.2(PNPLA6):c.621G>A (p.Leu207=) rs200521839 0.00001
NM_001166114.2(PNPLA6):c.647C>T (p.Pro216Leu) rs777837588 0.00001
NM_001166114.2(PNPLA6):c.684C>T (p.Asp228=) rs375424103 0.00001
NM_001166114.2(PNPLA6):c.713C>T (p.Pro238Leu) rs763499274 0.00001
NM_001166114.2(PNPLA6):c.715-17G>A rs372017403 0.00001
NM_001166114.2(PNPLA6):c.715-18C>T rs747065084 0.00001
NM_001166114.2(PNPLA6):c.717C>T (p.Asp239=) rs770120484 0.00001
NM_001166114.2(PNPLA6):c.808C>T (p.Pro270Ser) rs1382702507 0.00001
NM_001166114.2(PNPLA6):c.838C>T (p.Arg280Trp) rs779386400 0.00001
NM_001166114.2(PNPLA6):c.842A>G (p.Asp281Gly) rs746313026 0.00001
NM_001166114.2(PNPLA6):c.897C>A (p.Tyr299Ter) rs1568408269 0.00001
NM_001166114.2(PNPLA6):c.946C>A (p.Arg316=) rs1352475389 0.00001
NM_001166114.2(PNPLA6):c.958C>T (p.Leu320=) rs758832982 0.00001
NM_001166114.2(PNPLA6):c.964C>T (p.Leu322=) rs747498966 0.00001
NM_001166114.2(PNPLA6):c.989A>G (p.Asn330Ser) rs1183371584 0.00001
NM_001351169.2(NT5C2):c.1044T>C (p.Tyr348=) rs781453727 0.00001
NM_001351169.2(NT5C2):c.1407G>A (p.Leu469=) rs142965385 0.00001
NM_001351169.2(NT5C2):c.1413C>T (p.Tyr471=) rs138710030 0.00001
NM_001351169.2(NT5C2):c.1450-8C>G rs1298594704 0.00001
NM_001351169.2(NT5C2):c.1467G>A (p.Thr489=) rs368637290 0.00001
NM_001351169.2(NT5C2):c.1644T>C (p.His548=) rs1158434429 0.00001
NM_001351169.2(NT5C2):c.1671G>A (p.Glu557=) rs553419003 0.00001
NM_001351169.2(NT5C2):c.1674G>A (p.Glu558=) rs893373835 0.00001
NM_001351169.2(NT5C2):c.430C>T (p.Arg144Ter) rs764453448 0.00001
NM_001351169.2(NT5C2):c.57G>C (p.Met19Ile) rs762854961 0.00001
NM_001351169.2(NT5C2):c.810C>A (p.Pro270=) rs1313695837 0.00001
NM_001368809.2(AMPD2):c.-151T>C rs748788622 0.00001
NM_001368809.2(AMPD2):c.-161T>G rs769851350 0.00001
NM_001368809.2(AMPD2):c.-18G>T rs772899120 0.00001
NM_001368809.2(AMPD2):c.-38G>A rs1650212785 0.00001
NM_001368809.2(AMPD2):c.-75G>T rs1025210705 0.00001
NM_001368809.2(AMPD2):c.1011A>G (p.Leu337=) rs1048375978 0.00001
NM_001368809.2(AMPD2):c.106C>G (p.Leu36Val) rs749918422 0.00001
NM_001368809.2(AMPD2):c.1202C>T (p.Thr401Met) rs751131036 0.00001
NM_001368809.2(AMPD2):c.134G>A (p.Arg45Gln) rs771577116 0.00001
NM_001368809.2(AMPD2):c.1571+9C>T rs991003516 0.00001
NM_001368809.2(AMPD2):c.1583G>A (p.Arg528His) rs772541636 0.00001
NM_001368809.2(AMPD2):c.1644C>T (p.Phe548=) rs758218441 0.00001
NM_001368809.2(AMPD2):c.1652C>G (p.Thr551Ser) rs370528133 0.00001
NM_001368809.2(AMPD2):c.1745A>G (p.His582Arg) rs539379857 0.00001
NM_001368809.2(AMPD2):c.1779G>A (p.Ala593=) rs767362652 0.00001
NM_001368809.2(AMPD2):c.177C>T (p.Leu59=) rs753496081 0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His) rs587777395 0.00001
NM_001368809.2(AMPD2):c.189G>A (p.Thr63=) rs745929697 0.00001
NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu) rs761542502 0.00001
NM_001368809.2(AMPD2):c.216C>T (p.Ile72=) rs1351463033 0.00001
NM_001368809.2(AMPD2):c.21C>T (p.Gly7=) rs762011633 0.00001
NM_001368809.2(AMPD2):c.2365C>T (p.Arg789Cys) rs1253216358 0.00001
NM_001368809.2(AMPD2):c.236G>A (p.Arg79His) rs1308492888 0.00001
NM_001368809.2(AMPD2):c.288G>C (p.Glu96Asp) rs745350160 0.00001
NM_001368809.2(AMPD2):c.387A>G (p.Gln129=) rs1399925815 0.00001
NM_001368809.2(AMPD2):c.415G>C (p.Asp139His) rs200750655 0.00001
NM_001368809.2(AMPD2):c.428A>G (p.Tyr143Cys) rs575582124 0.00001
NM_001368809.2(AMPD2):c.536C>T (p.Pro179Leu) rs567095077 0.00001
NM_001368809.2(AMPD2):c.602T>C (p.Met201Thr) rs748621330 0.00001
NM_001368809.2(AMPD2):c.699C>T (p.Pro233=) rs778185309 0.00001
NM_001368809.2(AMPD2):c.725C>T (p.Pro242Leu) rs768283469 0.00001
NM_001368809.2(AMPD2):c.837C>T (p.Tyr279=) rs1369584235 0.00001
NM_001368809.2(AMPD2):c.856G>A (p.Glu286Lys) rs1255257133 0.00001
NM_001368809.2(AMPD2):c.929C>T (p.Ala310Val) rs771408289 0.00001
NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp) rs776868175 0.00001
NM_001776.6(ENTPD1):c.1065G>T (p.Gly355=) rs779604340 0.00001
NM_001776.6(ENTPD1):c.1137G>C (p.Gln379His) rs994434491 0.00001
NM_001776.6(ENTPD1):c.1146G>T (p.Val382=) rs371715493 0.00001
NM_001776.6(ENTPD1):c.1188+4A>G rs780832950 0.00001
NM_001776.6(ENTPD1):c.1289C>T (p.Thr430Ile) rs758827298 0.00001
NM_001776.6(ENTPD1):c.1356G>A (p.Leu452=) rs372922890 0.00001
NM_001776.6(ENTPD1):c.1411C>G (p.Pro471Ala) rs1173015974 0.00001
NM_001776.6(ENTPD1):c.1462C>G (p.Leu488Val) rs1434376009 0.00001
NM_001776.6(ENTPD1):c.329A>T (p.Glu110Val) rs751335015 0.00001
NM_001776.6(ENTPD1):c.491A>G (p.Gln164Arg) rs748573011 0.00001
NM_001776.6(ENTPD1):c.595G>A (p.Val199Ile) rs911744459 0.00001
NM_001776.6(ENTPD1):c.599C>T (p.Pro200Leu) rs147932314 0.00001
NM_001776.6(ENTPD1):c.684G>A (p.Gln228=) rs1337866354 0.00001
NM_001776.6(ENTPD1):c.941T>C (p.Phe314Ser) rs774867224 0.00001
NM_002361.4(MAG):c.1000A>T (p.Thr334Ser) rs763171002 0.00001
NM_002361.4(MAG):c.1017G>T (p.Glu339Asp) rs750691038 0.00001
NM_002361.4(MAG):c.1138C>T (p.Pro380Ser) rs201899456 0.00001
NM_002361.4(MAG):c.1265C>T (p.Ala422Val) rs1456256662 0.00001
NM_002361.4(MAG):c.1270G>A (p.Ala424Thr) rs1434326122 0.00001
NM_002361.4(MAG):c.127C>T (p.Arg43Cys) rs745533880 0.00001
NM_002361.4(MAG):c.1393C>T (p.Arg465Cys) rs2066514711 0.00001
NM_002361.4(MAG):c.157G>A (p.Ala53Thr) rs759758253 0.00001
NM_002361.4(MAG):c.1646C>T (p.Ser549Leu) rs767886169 0.00001
NM_002361.4(MAG):c.1681G>A (p.Asp561Asn) rs201165241 0.00001
NM_002361.4(MAG):c.1857G>A (p.Glu619=) rs200278152 0.00001
NM_002361.4(MAG):c.252C>A (p.Ser84Arg) rs763042714 0.00001
NM_002361.4(MAG):c.415+14G>A rs1346731923 0.00001
NM_002361.4(MAG):c.416-6G>A rs759995393 0.00001
NM_002361.4(MAG):c.471C>T (p.Val157=) rs537215744 0.00001
NM_002361.4(MAG):c.569G>A (p.Arg190Gln) rs760694257 0.00001
NM_002361.4(MAG):c.61C>T (p.His21Tyr) rs370825816 0.00001
NM_002361.4(MAG):c.668A>G (p.Asn223Ser) rs1471804208 0.00001
NM_002361.4(MAG):c.699C>G (p.Ser233Arg) rs1348797051 0.00001
NM_002361.4(MAG):c.899A>G (p.Asp300Gly) rs1216189764 0.00001
NM_002361.4(MAG):c.971-14G>A rs778873158 0.00001
NM_002361.4(MAG):c.997G>A (p.Gly333Arg) rs199764089 0.00001
NM_002860.4(ALDH18A1):c.1041G>A (p.Lys347=) rs2097862079 0.00001
NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe) rs758828421 0.00001
NM_002860.4(ALDH18A1):c.1247-19C>G rs772575442 0.00001
NM_002860.4(ALDH18A1):c.1274G>C (p.Arg425Pro) rs1413173287 0.00001
NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser) rs141292408 0.00001
NM_002860.4(ALDH18A1):c.1320G>A (p.Leu440=) rs537092003 0.00001
NM_002860.4(ALDH18A1):c.1335C>T (p.Ala445=) rs771965130 0.00001
NM_002860.4(ALDH18A1):c.1448G>A (p.Arg483His) rs756168752 0.00001
NM_002860.4(ALDH18A1):c.1589A>C (p.Lys530Thr) rs560598479 0.00001
NM_002860.4(ALDH18A1):c.1598T>G (p.Val533Gly) rs796197665 0.00001
NM_002860.4(ALDH18A1):c.1635T>C (p.Leu545=) rs368774840 0.00001
NM_002860.4(ALDH18A1):c.1636T>C (p.Cys546Arg) rs753157831 0.00001
NM_002860.4(ALDH18A1):c.164G>A (p.Arg55His) rs754880517 0.00001
NM_002860.4(ALDH18A1):c.1732G>C (p.Gly578Arg) rs1085307606 0.00001
NM_002860.4(ALDH18A1):c.1741G>A (p.Glu581Lys) rs777991529 0.00001
NM_002860.4(ALDH18A1):c.1797G>C (p.Arg599Ser) rs752764884 0.00001
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser) rs768964431 0.00001
NM_002860.4(ALDH18A1):c.2034G>A (p.Val678=) rs1328125928 0.00001
NM_002860.4(ALDH18A1):c.2077A>G (p.Ser693Gly) rs1363547996 0.00001
NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys) rs758219423 0.00001
NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile) rs756291410 0.00001
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His) rs752669339 0.00001
NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys) rs760203992 0.00001
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter) rs1462559161 0.00001
NM_002860.4(ALDH18A1):c.306A>G (p.Val102=) rs773545430 0.00001
NM_002860.4(ALDH18A1):c.378C>T (p.Arg126=) rs773835343 0.00001
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His) rs768323248 0.00001
NM_002860.4(ALDH18A1):c.512C>T (p.Ala171Val) rs1268586078 0.00001
NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val) rs201428777 0.00001
NM_002860.4(ALDH18A1):c.558+6A>G rs751771445 0.00001
NM_002860.4(ALDH18A1):c.559-19A>G rs776600555 0.00001
NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys) rs201801058 0.00001
NM_002860.4(ALDH18A1):c.602G>A (p.Arg201Gln) rs757660360 0.00001
NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter) rs758543218 0.00001
NM_002860.4(ALDH18A1):c.75C>T (p.Thr25=) rs759465204 0.00001
NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile) rs200172733 0.00001
NM_002860.4(ALDH18A1):c.809-12T>C rs777274822 0.00001
NM_002860.4(ALDH18A1):c.809-3T>G rs755947818 0.00001
NM_002860.4(ALDH18A1):c.88+1G>A rs556267618 0.00001
NM_002860.4(ALDH18A1):c.934-7T>A rs772389382 0.00001
NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=) rs751578810 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_006070.6(TFG):c.1006C>T (p.Pro336Ser) rs371681149 0.00001
NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys) rs1375662436 0.00001
NM_006070.6(TFG):c.1094C>T (p.Ser365Leu) rs1288104441 0.00001
NM_006070.6(TFG):c.1116C>T (p.Thr372=) rs1576389880 0.00001
NM_006070.6(TFG):c.1123C>G (p.Pro375Ala) rs1234073129 0.00001
NM_006070.6(TFG):c.1153C>T (p.Arg385Cys) rs548772203 0.00001
NM_006070.6(TFG):c.1165G>C (p.Gly389Arg) rs1576390105 0.00001
NM_006070.6(TFG):c.213T>C (p.Ser71=) rs773769795 0.00001
NM_006070.6(TFG):c.25G>A (p.Gly9Arg) rs200716443 0.00001
NM_006070.6(TFG):c.268+18T>A rs767431238 0.00001
NM_006070.6(TFG):c.268+20A>T rs755835566 0.00001
NM_006070.6(TFG):c.268G>A (p.Val90Ile) rs1468380372 0.00001
NM_006070.6(TFG):c.269-5T>C rs2095082752 0.00001
NM_006070.6(TFG):c.286C>T (p.Pro96Ser) rs1435777080 0.00001
NM_006070.6(TFG):c.293A>C (p.Glu98Ala) rs2095082870 0.00001
NM_006070.6(TFG):c.309A>G (p.Lys103=) rs369508900 0.00001
NM_006070.6(TFG):c.310T>C (p.Tyr104His) rs775608477 0.00001
NM_006070.6(TFG):c.316C>T (p.Arg106Cys) rs587777175 0.00001
NM_006070.6(TFG):c.317G>A (p.Arg106His) rs376971794 0.00001
NM_006070.6(TFG):c.409G>C (p.Glu137Gln) rs760595911 0.00001
NM_006070.6(TFG):c.458C>T (p.Ser153Phe) rs775354552 0.00001
NM_006070.6(TFG):c.474T>C (p.Thr158=) rs2095094645 0.00001
NM_006070.6(TFG):c.482T>C (p.Met161Thr) rs766899074 0.00001
NM_006070.6(TFG):c.484G>A (p.Ala162Thr) rs1346466403 0.00001
NM_006070.6(TFG):c.499G>A (p.Ala167Thr) rs1428468084 0.00001
NM_006070.6(TFG):c.550G>A (p.Ala184Thr) rs777654574 0.00001
NM_006070.6(TFG):c.580+6T>C rs372196251 0.00001
NM_006070.6(TFG):c.581-10G>A rs749200284 0.00001
NM_006070.6(TFG):c.608G>A (p.Arg203His) rs879472420 0.00001
NM_006070.6(TFG):c.621C>T (p.Pro207=) rs141786985 0.00001
NM_006070.6(TFG):c.664G>A (p.Val222Ile) rs144368144 0.00001
NM_006070.6(TFG):c.690A>G (p.Thr230=) rs777434458 0.00001
NM_006070.6(TFG):c.6C>T (p.Asn2=) rs771836549 0.00001
NM_006070.6(TFG):c.705A>G (p.Gln235=) rs372286781 0.00001
NM_006070.6(TFG):c.754G>A (p.Gly252Ser) rs561904697 0.00001
NM_006070.6(TFG):c.756C>G (p.Gly252=) rs867600144 0.00001
NM_006070.6(TFG):c.765A>C (p.Ala255=) rs1057522690 0.00001
NM_006070.6(TFG):c.773C>T (p.Pro258Leu) rs752762145 0.00001
NM_006070.6(TFG):c.821C>T (p.Ala274Val) rs368994316 0.00001
NM_006070.6(TFG):c.850C>G (p.Gln284Glu) rs760894126 0.00001
NM_006070.6(TFG):c.852A>C (p.Gln284His) rs1559726965 0.00001
NM_006070.6(TFG):c.867G>A (p.Gln289=) rs1340191664 0.00001
NM_006070.6(TFG):c.981A>G (p.Gln327=) rs759578675 0.00001
NM_006612.6(KIF1C):c.1020-17G>C rs776141172 0.00001
NM_006612.6(KIF1C):c.1045C>T (p.Arg349Cys) rs187228739 0.00001
NM_006612.6(KIF1C):c.1115G>A (p.Arg372Gln) rs367997542 0.00001
NM_006612.6(KIF1C):c.1152C>G (p.Ala384=) rs757618593 0.00001
NM_006612.6(KIF1C):c.116A>G (p.Asn39Ser) rs1368090910 0.00001
NM_006612.6(KIF1C):c.1198G>A (p.Ala400Thr) rs755935386 0.00001
NM_006612.6(KIF1C):c.126G>C (p.Gln42His) rs202033753 0.00001
NM_006612.6(KIF1C):c.1488G>A (p.Lys496=) rs1269015879 0.00001
NM_006612.6(KIF1C):c.1666+5T>C rs1057523116 0.00001
NM_006612.6(KIF1C):c.1844C>T (p.Pro615Leu) rs760659714 0.00001
NM_006612.6(KIF1C):c.1847G>A (p.Gly616Glu) rs1283601775 0.00001
NM_006612.6(KIF1C):c.1938G>A (p.Arg646=) rs762688207 0.00001
NM_006612.6(KIF1C):c.2155C>T (p.Arg719Cys) rs147429300 0.00001
NM_006612.6(KIF1C):c.2187C>T (p.Pro729=) rs1200655580 0.00001
NM_006612.6(KIF1C):c.2216C>T (p.Pro739Leu) rs376385209 0.00001
NM_006612.6(KIF1C):c.2231T>C (p.Met744Thr) rs1453593139 0.00001
NM_006612.6(KIF1C):c.2443G>A (p.Ala815Thr) rs776041349 0.00001
NM_006612.6(KIF1C):c.2485G>A (p.Glu829Lys) rs539082919 0.00001
NM_006612.6(KIF1C):c.2701G>A (p.Glu901Lys) rs751072487 0.00001
NM_006612.6(KIF1C):c.2711C>G (p.Pro904Arg) rs1395728872 0.00001
NM_006612.6(KIF1C):c.2727G>A (p.Pro909=) rs756493983 0.00001
NM_006612.6(KIF1C):c.2777G>A (p.Arg926Gln) rs200925951 0.00001
NM_006612.6(KIF1C):c.2819G>A (p.Arg940His) rs774901685 0.00001
NM_006612.6(KIF1C):c.3006G>A (p.Pro1002=) rs765019500 0.00001
NM_006612.6(KIF1C):c.3070C>T (p.Arg1024Ter) rs372792586 0.00001
NM_006612.6(KIF1C):c.3098C>T (p.Ser1033Phe) rs779584975 0.00001
NM_006612.6(KIF1C):c.363+4C>T rs368371260 0.00001
NM_006612.6(KIF1C):c.37C>T (p.Arg13Trp) rs756071061 0.00001
NM_006612.6(KIF1C):c.412C>G (p.Leu138Val) rs773746672 0.00001
NM_006612.6(KIF1C):c.430-6A>T rs749747498 0.00001
NM_006612.6(KIF1C):c.471C>A (p.Leu157=) rs140531982 0.00001
NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu) rs772475828 0.00001
NM_006612.6(KIF1C):c.577G>A (p.Ala193Thr) rs754938138 0.00001
NM_006612.6(KIF1C):c.720+17C>G rs753249003 0.00001
NM_006612.6(KIF1C):c.798+3G>T rs777181739 0.00001
NM_006612.6(KIF1C):c.849G>A (p.Ser283=) rs774623292 0.00001
NM_012073.5(CCT5):c.1005C>T (p.Ile335=) rs1282889055 0.00001
NM_012073.5(CCT5):c.106-10G>C rs1468015293 0.00001
NM_012073.5(CCT5):c.10A>G (p.Met4Val) rs1281493996 0.00001
NM_012073.5(CCT5):c.1123G>A (p.Glu375Lys) rs139449863 0.00001
NM_012073.5(CCT5):c.1206T>C (p.Leu402=) rs943286316 0.00001
NM_012073.5(CCT5):c.1209C>T (p.His403=) rs771307325 0.00001
NM_012073.5(CCT5):c.1229G>A (p.Arg410Gln) rs771944850 0.00001
NM_012073.5(CCT5):c.1308G>A (p.Glu436=) rs772175136 0.00001
NM_012073.5(CCT5):c.1311G>A (p.Ala437=) rs746715722 0.00001
NM_012073.5(CCT5):c.1318-4C>T rs1404507806 0.00001
NM_012073.5(CCT5):c.1346G>A (p.Arg449Lys) rs762423535 0.00001
NM_012073.5(CCT5):c.1357G>A (p.Asp453Asn) rs766463234 0.00001
NM_012073.5(CCT5):c.1359C>T (p.Asp453=) rs751771583 0.00001
NM_012073.5(CCT5):c.1443G>C (p.Gln481His) rs766425367 0.00001
NM_012073.5(CCT5):c.1549A>G (p.Ile517Val) rs752461300 0.00001
NM_012073.5(CCT5):c.222G>A (p.Gly74=) rs1234851468 0.00001
NM_012073.5(CCT5):c.377G>A (p.Arg126Gln) rs369788570 0.00001
NM_012073.5(CCT5):c.548G>A (p.Arg183Gln) rs772711272 0.00001
NM_012073.5(CCT5):c.577G>A (p.Val193Ile) rs978444316 0.00001
NM_012073.5(CCT5):c.610G>A (p.Val204Ile) rs1266138297 0.00001
NM_012073.5(CCT5):c.649G>A (p.Gly217Ser) rs201804455 0.00001
NM_012073.5(CCT5):c.724-6C>T rs781230840 0.00001
NM_012073.5(CCT5):c.840C>T (p.Tyr280=) rs978388396 0.00001
NM_012073.5(CCT5):c.993+14C>T rs1170598436 0.00001
NM_014844.5(TECPR2):c.1085-4T>G rs1363586320 0.00001
NM_014844.5(TECPR2):c.1086G>A (p.Val362=) rs775863338 0.00001
NM_014844.5(TECPR2):c.108C>T (p.Val36=) rs139815945 0.00001
NM_014844.5(TECPR2):c.1113C>T (p.Cys371=) rs139520375 0.00001
NM_014844.5(TECPR2):c.1129G>A (p.Val377Met) rs527904656 0.00001
NM_014844.5(TECPR2):c.1152A>G (p.Pro384=) rs1039581834 0.00001
NM_014844.5(TECPR2):c.1161A>G (p.Thr387=) rs199742956 0.00001
NM_014844.5(TECPR2):c.1170G>A (p.Glu390=) rs1195813959 0.00001
NM_014844.5(TECPR2):c.1204G>A (p.Val402Met) rs201302142 0.00001
NM_014844.5(TECPR2):c.1213G>A (p.Glu405Lys) rs148556964 0.00001
NM_014844.5(TECPR2):c.1235C>T (p.Ser412Leu) rs367895391 0.00001
NM_014844.5(TECPR2):c.1244C>A (p.Ser415Tyr) rs1239046327 0.00001
NM_014844.5(TECPR2):c.1272C>G (p.Pro424=) rs1479776252 0.00001
NM_014844.5(TECPR2):c.1287C>G (p.Ala429=) rs775301208 0.00001
NM_014844.5(TECPR2):c.1290C>T (p.Thr430=) rs763935932 0.00001
NM_014844.5(TECPR2):c.1308C>A (p.Gly436=) rs1357322447 0.00001
NM_014844.5(TECPR2):c.1318_1319del (p.Leu440fs) rs765874018 0.00001
NM_014844.5(TECPR2):c.142A>G (p.Ile48Val) rs774552033 0.00001
NM_014844.5(TECPR2):c.144C>T (p.Ile48=) rs1447149764 0.00001
NM_014844.5(TECPR2):c.150G>A (p.Val50=) rs372796531 0.00001
NM_014844.5(TECPR2):c.1632C>T (p.Pro544=) rs1057107201 0.00001
NM_014844.5(TECPR2):c.167T>C (p.Met56Thr) rs755600315 0.00001
NM_014844.5(TECPR2):c.1704T>G (p.Thr568=) rs749355080 0.00001
NM_014844.5(TECPR2):c.171C>G (p.Leu57=) rs765658697 0.00001
NM_014844.5(TECPR2):c.173A>T (p.Tyr58Phe) rs752289754 0.00001
NM_014844.5(TECPR2):c.1800G>A (p.Glu600=) rs749351336 0.00001
NM_014844.5(TECPR2):c.180C>T (p.Tyr60=) rs139508217 0.00001
NM_014844.5(TECPR2):c.1811C>T (p.Ala604Val) rs1060502180 0.00001
NM_014844.5(TECPR2):c.1815T>C (p.Asp605=) rs1235252325 0.00001
NM_014844.5(TECPR2):c.1944C>T (p.Leu648=) rs1217749605 0.00001
NM_014844.5(TECPR2):c.1956C>T (p.Ser652=) rs763758324 0.00001
NM_014844.5(TECPR2):c.2013A>G (p.Glu671=) rs1392555717 0.00001
NM_014844.5(TECPR2):c.2022C>T (p.Pro674=) rs770334939 0.00001
NM_014844.5(TECPR2):c.2064G>A (p.Glu688=) rs760528160 0.00001
NM_014844.5(TECPR2):c.2079C>G (p.Leu693=) rs764289556 0.00001
NM_014844.5(TECPR2):c.2163G>T (p.Val721=) rs1384864058 0.00001
NM_014844.5(TECPR2):c.2181G>A (p.Pro727=) rs765050564 0.00001
NM_014844.5(TECPR2):c.220-10G>A rs776064965 0.00001
NM_014844.5(TECPR2):c.2235G>A (p.Arg745=) rs1251921348 0.00001
NM_014844.5(TECPR2):c.2244A>G (p.Thr748=) rs977750461 0.00001
NM_014844.5(TECPR2):c.225G>A (p.Lys75=) rs866818130 0.00001
NM_014844.5(TECPR2):c.2281G>A (p.Gly761Arg) rs985650252 0.00001
NM_014844.5(TECPR2):c.2316A>G (p.Thr772=) rs755252691 0.00001
NM_014844.5(TECPR2):c.2382C>T (p.Leu794=) rs369859838 0.00001
NM_014844.5(TECPR2):c.2388A>G (p.Pro796=) rs766613606 0.00001
NM_014844.5(TECPR2):c.2394+14G>A rs1383650164 0.00001
NM_014844.5(TECPR2):c.2395-19C>T rs749985958 0.00001
NM_014844.5(TECPR2):c.2414G>A (p.Gly805Asp) rs201418942 0.00001
NM_014844.5(TECPR2):c.2427C>T (p.Pro809=) rs200127253 0.00001
NM_014844.5(TECPR2):c.2442C>A (p.Leu814=) rs1227670267 0.00001
NM_014844.5(TECPR2):c.2453T>C (p.Val818Ala) rs766994977 0.00001
NM_014844.5(TECPR2):c.2457C>G (p.Ser819=) rs765475573 0.00001
NM_014844.5(TECPR2):c.2469C>A (p.Ile823=) rs1472580991 0.00001
NM_014844.5(TECPR2):c.2493C>G (p.Gly831=) rs773249606 0.00001
NM_014844.5(TECPR2):c.2495_2498dup (p.Cys834fs) rs1364819755 0.00001
NM_014844.5(TECPR2):c.2502C>T (p.Cys834=) rs1265644311 0.00001
NM_014844.5(TECPR2):c.2520C>T (p.Ala840=) rs767431269 0.00001
NM_014844.5(TECPR2):c.2523G>A (p.Gly841=) rs760185994 0.00001
NM_014844.5(TECPR2):c.2527C>T (p.Arg843Cys) rs1337707151 0.00001
NM_014844.5(TECPR2):c.2553C>A (p.Val851=) rs1197949352 0.00001
NM_014844.5(TECPR2):c.2574C>T (p.Pro858=) rs1166777259 0.00001
NM_014844.5(TECPR2):c.2578+8T>G rs1567342020 0.00001
NM_014844.5(TECPR2):c.2675C>T (p.Pro892Leu) rs762680033 0.00001
NM_014844.5(TECPR2):c.2694C>T (p.Ala898=) rs202031176 0.00001
NM_014844.5(TECPR2):c.2700C>T (p.Ser900=) rs545614481 0.00001
NM_014844.5(TECPR2):c.2708C>T (p.Thr903Met) rs752912949 0.00001
NM_014844.5(TECPR2):c.2757G>A (p.Leu919=) rs771941325 0.00001
NM_014844.5(TECPR2):c.2808G>A (p.Pro936=) rs1429105020 0.00001
NM_014844.5(TECPR2):c.2856G>A (p.Glu952=) rs771816482 0.00001
NM_014844.5(TECPR2):c.2859G>A (p.Gln953=) rs570449027 0.00001
NM_014844.5(TECPR2):c.2876G>A (p.Arg959Gln) rs763118922 0.00001
NM_014844.5(TECPR2):c.2934-11_2934-9del rs776462274 0.00001
NM_014844.5(TECPR2):c.2971G>A (p.Gly991Arg) rs769632840 0.00001
NM_014844.5(TECPR2):c.297C>G (p.Gly99=) rs1345955584 0.00001
NM_014844.5(TECPR2):c.2995C>T (p.Leu999=) rs748256563 0.00001
NM_014844.5(TECPR2):c.3072G>A (p.Trp1024Ter) rs765880201 0.00001
NM_014844.5(TECPR2):c.3090C>T (p.Asp1030=) rs1890085599 0.00001
NM_014844.5(TECPR2):c.3104A>G (p.Asp1035Gly) rs1060502181 0.00001
NM_014844.5(TECPR2):c.3126G>A (p.Thr1042=) rs200175137 0.00001
NM_014844.5(TECPR2):c.3172G>A (p.Val1058Ile) rs149704865 0.00001
NM_014844.5(TECPR2):c.3182T>C (p.Val1061Ala) rs1567347217 0.00001
NM_014844.5(TECPR2):c.3196C>T (p.Arg1066Cys) rs776056002 0.00001
NM_014844.5(TECPR2):c.3197G>A (p.Arg1066His) rs868392319 0.00001
NM_014844.5(TECPR2):c.3231G>A (p.Gln1077=) rs1467679665 0.00001
NM_014844.5(TECPR2):c.3297C>T (p.Val1099=) rs145454921 0.00001
NM_014844.5(TECPR2):c.3321C>T (p.Thr1107=) rs1472780559 0.00001
NM_014844.5(TECPR2):c.3333T>C (p.His1111=) rs1439649876 0.00001
NM_014844.5(TECPR2):c.3363A>C (p.Thr1121=) rs1316923746 0.00001
NM_014844.5(TECPR2):c.3399G>A (p.Thr1133=) rs765318084 0.00001
NM_014844.5(TECPR2):c.33A>G (p.Arg11=) rs1214503332 0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) rs751970061 0.00001
NM_014844.5(TECPR2):c.3475C>T (p.Arg1159Trp) rs202087410 0.00001
NM_014844.5(TECPR2):c.3486G>A (p.Thr1162=) rs747983532 0.00001
NM_014844.5(TECPR2):c.349-4A>T rs371043285 0.00001
NM_014844.5(TECPR2):c.3514C>G (p.Arg1172Gly) rs762957508 0.00001
NM_014844.5(TECPR2):c.3516C>T (p.Arg1172=) rs774508523 0.00001
NM_014844.5(TECPR2):c.3540G>A (p.Ala1180=) rs368289607 0.00001
NM_014844.5(TECPR2):c.3549G>A (p.Ala1183=) rs564868110 0.00001
NM_014844.5(TECPR2):c.354G>A (p.Arg118=) rs1302519830 0.00001
NM_014844.5(TECPR2):c.3590A>G (p.Lys1197Arg) rs1230456153 0.00001
NM_014844.5(TECPR2):c.3603G>A (p.Thr1201=) rs773460001 0.00001
NM_014844.5(TECPR2):c.3618C>T (p.Thr1206=) rs1378683693 0.00001
NM_014844.5(TECPR2):c.3641-4A>G rs374009074 0.00001
NM_014844.5(TECPR2):c.3641-9T>C rs781116239 0.00001
NM_014844.5(TECPR2):c.3681C>T (p.His1227=) rs779898163 0.00001
NM_014844.5(TECPR2):c.3702G>A (p.Arg1234=) rs1227548784 0.00001
NM_014844.5(TECPR2):c.3708A>G (p.Gly1236=) rs777191623 0.00001
NM_014844.5(TECPR2):c.3744C>T (p.Pro1248=) rs373973558 0.00001
NM_014844.5(TECPR2):c.3792C>T (p.Pro1264=) rs766197921 0.00001
NM_014844.5(TECPR2):c.3803G>A (p.Ser1268Asn) rs1891298626 0.00001
NM_014844.5(TECPR2):c.3806T>C (p.Leu1269Ser) rs750718382 0.00001
NM_014844.5(TECPR2):c.384T>C (p.Asn128=) rs776297932 0.00001
NM_014844.5(TECPR2):c.3867C>T (p.Asn1289=) rs577262480 0.00001
NM_014844.5(TECPR2):c.3931+10T>G rs776100340 0.00001
NM_014844.5(TECPR2):c.3954G>T (p.Ala1318=) rs779731666 0.00001
NM_014844.5(TECPR2):c.3969C>T (p.Thr1323=) rs562186436 0.00001
NM_014844.5(TECPR2):c.3981C>T (p.Arg1327=) rs1374798188 0.00001
NM_014844.5(TECPR2):c.39C>T (p.Phe13=) rs1397291493 0.00001
NM_014844.5(TECPR2):c.4085C>T (p.Thr1362Ile) rs766050891 0.00001
NM_014844.5(TECPR2):c.408C>T (p.Ser136=) rs758465886 0.00001
NM_014844.5(TECPR2):c.4125C>T (p.Tyr1375=) rs774588446 0.00001
NM_014844.5(TECPR2):c.4149G>A (p.Thr1383=) rs776285112 0.00001
NM_014844.5(TECPR2):c.4158C>T (p.His1386=) rs1043906046 0.00001
NM_014844.5(TECPR2):c.4170C>G (p.Thr1390=) rs1249316065 0.00001
NM_014844.5(TECPR2):c.4218C>T (p.Asp1406=) rs781071686 0.00001
NM_014844.5(TECPR2):c.4227G>A (p.Glu1409=) rs1393860120 0.00001
NM_014844.5(TECPR2):c.429C>T (p.Phe143=) rs780166230 0.00001
NM_014844.5(TECPR2):c.541A>G (p.Ser181Gly) rs200469835 0.00001
NM_014844.5(TECPR2):c.588T>C (p.Phe196=) rs1240987394 0.00001
NM_014844.5(TECPR2):c.609A>G (p.Val203=) rs959005327 0.00001
NM_014844.5(TECPR2):c.627A>G (p.Gln209=) rs1787062022 0.00001
NM_014844.5(TECPR2):c.744C>T (p.His248=) rs771721656 0.00001
NM_014844.5(TECPR2):c.816G>A (p.Pro272=) rs369410138 0.00001
NM_014844.5(TECPR2):c.81C>A (p.Ile27=) rs1340120925 0.00001
NM_014844.5(TECPR2):c.879A>G (p.Ser293=) rs770891190 0.00001
NM_014844.5(TECPR2):c.952-10T>C rs1402559911 0.00001
NM_014844.5(TECPR2):c.987T>C (p.Ile329=) rs1010583798 0.00001
NM_015161.3(ARL6IP1):c.171G>A (p.Leu57=) rs767572069 0.00001
NM_015161.3(ARL6IP1):c.205G>A (p.Gly69Ser) rs770346896 0.00001
NM_015161.3(ARL6IP1):c.346C>T (p.Arg116Ter) rs750623911 0.00001
NM_015161.3(ARL6IP1):c.409-2A>G rs767874638 0.00001
NM_015161.3(ARL6IP1):c.566G>A (p.Arg189Lys) rs148872516 0.00001
NM_015214.3(DDHD2):c.1095A>G (p.Lys365=) rs1805628293 0.00001
NM_015214.3(DDHD2):c.1126-13A>G rs759750987 0.00001
NM_015214.3(DDHD2):c.1248+2T>C rs753950471 0.00001
NM_015214.3(DDHD2):c.1250C>A (p.Ala417Asp) rs376393703 0.00001
NM_015214.3(DDHD2):c.1448T>C (p.Val483Ala) rs1258523026 0.00001
NM_015214.3(DDHD2):c.1461+5C>G rs375678849 0.00001
NM_015214.3(DDHD2):c.1526T>C (p.Ile509Thr) rs748099521 0.00001
NM_015214.3(DDHD2):c.1618-6A>T rs745477461 0.00001
NM_015214.3(DDHD2):c.1648A>G (p.Met550Val) rs187350175 0.00001
NM_015214.3(DDHD2):c.1662A>G (p.Gly554=) rs929696583 0.00001
NM_015214.3(DDHD2):c.1720+9G>A rs745620727 0.00001
NM_015214.3(DDHD2):c.1771C>A (p.Leu591Ile) rs758122725 0.00001
NM_015214.3(DDHD2):c.1779G>A (p.Ser593=) rs751112891 0.00001
NM_015214.3(DDHD2):c.1783C>T (p.Arg595Trp) rs1215601645 0.00001
NM_015214.3(DDHD2):c.1796A>G (p.Lys599Arg) rs1487744193 0.00001
NM_015214.3(DDHD2):c.1869A>G (p.Glu623=) rs775739636 0.00001
NM_015214.3(DDHD2):c.1923T>G (p.Val641=) rs958442410 0.00001
NM_015214.3(DDHD2):c.1938G>T (p.Leu646=) rs767484541 0.00001
NM_015214.3(DDHD2):c.2019G>C (p.Glu673Asp) rs997716780 0.00001
NM_015214.3(DDHD2):c.2103C>T (p.Thr701=) rs1029545577 0.00001
NM_015214.3(DDHD2):c.292C>T (p.Arg98Trp) rs372220151 0.00001
NM_015214.3(DDHD2):c.312T>G (p.Asp104Glu) rs765795609 0.00001
NM_015214.3(DDHD2):c.379C>G (p.Pro127Ala) rs750939885 0.00001
NM_015214.3(DDHD2):c.420C>A (p.Tyr140Ter) rs939799061 0.00001
NM_015214.3(DDHD2):c.471C>A (p.Asn157Lys) rs777858708 0.00001
NM_015214.3(DDHD2):c.568C>T (p.Arg190Ter) rs377293194 0.00001
NM_015214.3(DDHD2):c.694C>T (p.Arg232Ter) rs1249841130 0.00001
NM_015214.3(DDHD2):c.876C>T (p.Ser292=) rs780244159 0.00001
NM_015214.3(DDHD2):c.985C>T (p.Arg329Ter) rs201258800 0.00001
NM_015214.3(DDHD2):c.995C>T (p.Thr332Ile) rs749180013 0.00001
NM_022089.4(ATP13A2):c.1004C>T (p.Ala335Val) rs756767909 0.00001
NM_022089.4(ATP13A2):c.1017G>C (p.Met339Ile) rs1345269003 0.00001
NM_022089.4(ATP13A2):c.1102A>G (p.Thr368Ala) rs1236275703 0.00001
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile) rs1033088325 0.00001
NM_022089.4(ATP13A2):c.1109G>A (p.Arg370Gln) rs369738172 0.00001
NM_022089.4(ATP13A2):c.111C>T (p.Leu37=) rs1331180219 0.00001
NM_022089.4(ATP13A2):c.1167G>A (p.Pro389=) rs776283025 0.00001
NM_022089.4(ATP13A2):c.1170C>T (p.His390=) rs201661480 0.00001
NM_022089.4(ATP13A2):c.1195+18G>C rs750278758 0.00001
NM_022089.4(ATP13A2):c.1233C>A (p.Ile411=) rs748487085 0.00001
NM_022089.4(ATP13A2):c.1234T>C (p.Leu412=) rs2077128030 0.00001
NM_022089.4(ATP13A2):c.1295T>C (p.Leu432Pro) rs778964823 0.00001
NM_022089.4(ATP13A2):c.1296C>T (p.Leu432=) rs1196631888 0.00001
NM_022089.4(ATP13A2):c.1307-13G>A rs754572673 0.00001
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162 0.00001
NM_022089.4(ATP13A2):c.1377C>T (p.Ile459=) rs1570823082 0.00001
NM_022089.4(ATP13A2):c.1384C>G (p.Leu462Val) rs773341880 0.00001
NM_022089.4(ATP13A2):c.1405G>A (p.Val469Met) rs1326057817 0.00001
NM_022089.4(ATP13A2):c.1437G>A (p.Val479=) rs367695021 0.00001
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter) rs1303653650 0.00001
NM_022089.4(ATP13A2):c.1460G>A (p.Arg487Gln) rs560095049 0.00001
NM_022089.4(ATP13A2):c.1465C>T (p.Arg489Trp) rs753825215 0.00001
NM_022089.4(ATP13A2):c.146G>T (p.Gly49Val) rs372254666 0.00001
NM_022089.4(ATP13A2):c.1543-15_1543-12del rs753702273 0.00001
NM_022089.4(ATP13A2):c.1544C>T (p.Thr515Met) rs984178348 0.00001
NM_022089.4(ATP13A2):c.1563C>T (p.Asp521=) rs777948791 0.00001
NM_022089.4(ATP13A2):c.1631G>A (p.Arg544His) rs1050384310 0.00001
NM_022089.4(ATP13A2):c.1663C>T (p.Leu555=) rs1208562568 0.00001
NM_022089.4(ATP13A2):c.1710C>T (p.Gly570=) rs1049938065 0.00001
NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser) rs886045581 0.00001
NM_022089.4(ATP13A2):c.1750-3C>T rs780246274 0.00001
NM_022089.4(ATP13A2):c.1755G>A (p.Leu585=) rs200184146 0.00001
NM_022089.4(ATP13A2):c.1787G>C (p.Gly596Ala) rs975811918 0.00001
NM_022089.4(ATP13A2):c.1845+15G>A rs750975658 0.00001
NM_022089.4(ATP13A2):c.1845+1G>A rs2076970587 0.00001
NM_022089.4(ATP13A2):c.1856C>T (p.Pro619Leu) rs746563424 0.00001
NM_022089.4(ATP13A2):c.1857G>A (p.Pro619=) rs1187762774 0.00001
NM_022089.4(ATP13A2):c.1864G>T (p.Val622Phe) rs779367060 0.00001
NM_022089.4(ATP13A2):c.1869C>T (p.Ser623=) rs757800272 0.00001
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile) rs368423685 0.00001
NM_022089.4(ATP13A2):c.1876C>T (p.His626Tyr) rs778267471 0.00001
NM_022089.4(ATP13A2):c.1897G>T (p.Ala633Ser) rs766354139 0.00001
NM_022089.4(ATP13A2):c.1907G>A (p.Arg636His) rs769622260 0.00001
NM_022089.4(ATP13A2):c.1951G>A (p.Ala651Thr) rs778404620 0.00001
NM_022089.4(ATP13A2):c.1957G>A (p.Val653Ile) rs761490954 0.00001
NM_022089.4(ATP13A2):c.2013C>T (p.Thr671=) rs1176219513 0.00001
NM_022089.4(ATP13A2):c.2015A>G (p.Asp672Gly) rs981910553 0.00001
NM_022089.4(ATP13A2):c.2049T>C (p.Ala683=) rs769153783 0.00001
NM_022089.4(ATP13A2):c.2061C>T (p.Val687=) rs370622481 0.00001
NM_022089.4(ATP13A2):c.2083C>T (p.Leu695=) rs757300078 0.00001
NM_022089.4(ATP13A2):c.208C>T (p.Leu70=) rs757911860 0.00001
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter) rs2076949269 0.00001
NM_022089.4(ATP13A2):c.2119C>T (p.Leu707=) rs762570626 0.00001
NM_022089.4(ATP13A2):c.2133T>C (p.Thr711=) rs751346349 0.00001
NM_022089.4(ATP13A2):c.2158G>T (p.Gly720Trp) rs865939676 0.00001
NM_022089.4(ATP13A2):c.2199G>A (p.Thr733=) rs1269645931 0.00001
NM_022089.4(ATP13A2):c.219G>A (p.Val73=) rs1469953920 0.00001
NM_022089.4(ATP13A2):c.2221A>C (p.Arg741=) rs754926284 0.00001
NM_022089.4(ATP13A2):c.2252-11A>G rs775547036 0.00001
NM_022089.4(ATP13A2):c.226C>T (p.Arg76Trp) rs751715295 0.00001
NM_022089.4(ATP13A2):c.2270C>T (p.Ala757Val) rs1208175914 0.00001
NM_022089.4(ATP13A2):c.229C>T (p.Leu77Phe) rs763004392 0.00001
NM_022089.4(ATP13A2):c.2332G>A (p.Ala778Thr) rs748986186 0.00001
NM_022089.4(ATP13A2):c.2340C>T (p.His780=) rs769392537 0.00001
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr) rs151222153 0.00001
NM_022089.4(ATP13A2):c.2397C>T (p.Ala799=) rs772920644 0.00001
NM_022089.4(ATP13A2):c.2422C>G (p.Gln808Glu) rs774997717 0.00001
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter) rs866035312 0.00001
NM_022089.4(ATP13A2):c.2456G>A (p.Arg819Gln) rs781298587 0.00001
NM_022089.4(ATP13A2):c.2479G>A (p.Gly827Arg) rs765064192 0.00001
NM_022089.4(ATP13A2):c.24C>T (p.Leu8=) rs1460426486 0.00001
NM_022089.4(ATP13A2):c.2525C>G (p.Pro842Arg) rs917176878 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 0.00001
NM_022089.4(ATP13A2):c.2591G>T (p.Cys864Phe) rs1281682323 0.00001
NM_022089.4(ATP13A2):c.2609+10C>T rs759204814 0.00001
NM_022089.4(ATP13A2):c.2628C>T (p.Cys876=) rs561561604 0.00001
NM_022089.4(ATP13A2):c.2635G>A (p.Gly879Ser) rs771014262 0.00001
NM_022089.4(ATP13A2):c.264C>T (p.Leu88=) rs554781874 0.00001
NM_022089.4(ATP13A2):c.2673C>T (p.Val891=) rs764639673 0.00001
NM_022089.4(ATP13A2):c.2820C>T (p.Tyr940=) rs765560804 0.00001
NM_022089.4(ATP13A2):c.2859+5G>C rs1164759435 0.00001
NM_022089.4(ATP13A2):c.2867C>T (p.Thr956Ile) rs752784549 0.00001
NM_022089.4(ATP13A2):c.288+16A>T rs1385104135 0.00001
NM_022089.4(ATP13A2):c.2905G>A (p.Val969Ile) rs769445714 0.00001
NM_022089.4(ATP13A2):c.2919A>G (p.Thr973=) rs149403933 0.00001
NM_022089.4(ATP13A2):c.2939G>A (p.Arg980His) rs150748722 0.00001
NM_022089.4(ATP13A2):c.2943G>A (p.Thr981=) rs746372968 0.00001
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met) rs764162255 0.00001
NM_022089.4(ATP13A2):c.3000C>T (p.Pro1000=) rs1260261642 0.00001
NM_022089.4(ATP13A2):c.3081A>G (p.Pro1027=) rs374690625 0.00001
NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met) rs750963832 0.00001
NM_022089.4(ATP13A2):c.3164G>C (p.Ser1055Thr) rs1046254851 0.00001
NM_022089.4(ATP13A2):c.3174C>T (p.Tyr1058=) rs777045615 0.00001
NM_022089.4(ATP13A2):c.3175C>T (p.Leu1059Phe) rs764410859 0.00001
NM_022089.4(ATP13A2):c.334A>G (p.Ile112Val) rs747340052 0.00001
NM_022089.4(ATP13A2):c.3356T>G (p.Leu1119Arg) rs375453342 0.00001
NM_022089.4(ATP13A2):c.340G>A (p.Glu114Lys) rs757224113 0.00001
NM_022089.4(ATP13A2):c.3434G>A (p.Cys1145Tyr) rs756071133 0.00001
NM_022089.4(ATP13A2):c.3440G>A (p.Arg1147His) rs971337693 0.00001
NM_022089.4(ATP13A2):c.3538A>T (p.Arg1180Trp) rs774920921 0.00001
NM_022089.4(ATP13A2):c.385C>T (p.Arg129Trp) rs1318096890 0.00001
NM_022089.4(ATP13A2):c.386G>A (p.Arg129Gln) rs762570832 0.00001
NM_022089.4(ATP13A2):c.39C>T (p.Pro13=) rs752127537 0.00001
NM_022089.4(ATP13A2):c.423C>T (p.Ala141=) rs1258288001 0.00001
NM_022089.4(ATP13A2):c.429G>A (p.Lys143=) rs1391689725 0.00001
NM_022089.4(ATP13A2):c.435G>A (p.Thr145=) rs201154350 0.00001
NM_022089.4(ATP13A2):c.464T>G (p.Val155Gly) rs1333931944 0.00001
NM_022089.4(ATP13A2):c.471C>T (p.Val157=) rs762608323 0.00001
NM_022089.4(ATP13A2):c.509G>T (p.Gly170Val) rs1369312171 0.00001
NM_022089.4(ATP13A2):c.529G>A (p.Glu177Lys) rs1323958366 0.00001
NM_022089.4(ATP13A2):c.59C>T (p.Thr20Met) rs773699589 0.00001
NM_022089.4(ATP13A2):c.635+19C>T rs746266493 0.00001
NM_022089.4(ATP13A2):c.636-7C>T rs762753391 0.00001
NM_022089.4(ATP13A2):c.648C>T (p.Tyr216=) rs769405638 0.00001
NM_022089.4(ATP13A2):c.668T>C (p.Ile223Thr) rs771489150 0.00001
NM_022089.4(ATP13A2):c.69A>G (p.Thr23=) rs1196381069 0.00001
NM_022089.4(ATP13A2):c.706-4C>A rs2077315863 0.00001
NM_022089.4(ATP13A2):c.723T>C (p.Tyr241=) rs1373279122 0.00001
NM_022089.4(ATP13A2):c.769T>C (p.Tyr257His) rs370403918 0.00001
NM_022089.4(ATP13A2):c.786C>T (p.Cys262=) rs1237741171 0.00001
NM_022089.4(ATP13A2):c.816C>G (p.Cys272Trp) rs755969305 0.00001
NM_022089.4(ATP13A2):c.846C>T (p.Ser282=) rs762440899 0.00001
NM_025137.4(SPG11):c.1008-20A>G rs767487177 0.00001
NM_025137.4(SPG11):c.1026A>G (p.Leu342=) rs1008060327 0.00001
NM_025137.4(SPG11):c.1031C>T (p.Ser344Leu) rs776948550 0.00001
NM_025137.4(SPG11):c.1045A>G (p.Ile349Val) rs889642538 0.00001
NM_025137.4(SPG11):c.1080T>C (p.Ala360=) rs775781498 0.00001
NM_025137.4(SPG11):c.1103A>G (p.His368Arg) rs151226459 0.00001
NM_025137.4(SPG11):c.114G>A (p.Met38Ile) rs886051185 0.00001
NM_025137.4(SPG11):c.1179T>C (p.His393=) rs751415874 0.00001
NM_025137.4(SPG11):c.1207C>T (p.His403Tyr) rs1331463203 0.00001
NM_025137.4(SPG11):c.1255A>G (p.Ser419Gly) rs747719668 0.00001
NM_025137.4(SPG11):c.1266G>A (p.Glu422=) rs747797205 0.00001
NM_025137.4(SPG11):c.126C>G (p.Gly42=) rs769083561 0.00001
NM_025137.4(SPG11):c.1276G>A (p.Glu426Lys) rs1158245810 0.00001
NM_025137.4(SPG11):c.130C>T (p.Arg44Trp) rs1304995096 0.00001
NM_025137.4(SPG11):c.1324G>A (p.Glu442Lys) rs1453401298 0.00001
NM_025137.4(SPG11):c.1383G>T (p.Gln461His) rs932177370 0.00001
NM_025137.4(SPG11):c.1393C>T (p.Leu465Phe) rs2084776558 0.00001
NM_025137.4(SPG11):c.1456+11del rs1176011669 0.00001
NM_025137.4(SPG11):c.1456+8T>G rs1368557409 0.00001
NM_025137.4(SPG11):c.1457-14T>C rs747106932 0.00001
NM_025137.4(SPG11):c.1457-2A>G rs312262726 0.00001
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter) rs312262728 0.00001
NM_025137.4(SPG11):c.150G>C (p.Gln50His) rs745498485 0.00001
NM_025137.4(SPG11):c.1513C>T (p.Leu505Phe) rs752258108 0.00001
NM_025137.4(SPG11):c.1526G>A (p.Gly509Glu) rs1418238531 0.00001
NM_025137.4(SPG11):c.153G>A (p.Pro51=) rs2085183451 0.00001
NM_025137.4(SPG11):c.1561A>G (p.Asn521Asp) rs770720509 0.00001
NM_025137.4(SPG11):c.1575G>T (p.Arg525Ser) rs1242845025 0.00001
NM_025137.4(SPG11):c.1589T>C (p.Ile530Thr) rs779031089 0.00001
NM_025137.4(SPG11):c.159T>C (p.Ala53=) rs1172849528 0.00001
NM_025137.4(SPG11):c.15A>T (p.Glu5Asp) rs1444959753 0.00001
NM_025137.4(SPG11):c.1603-11C>T rs2084149936 0.00001
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) rs765061840 0.00001
NM_025137.4(SPG11):c.1632A>G (p.Thr544=) rs368683333 0.00001
NM_025137.4(SPG11):c.1649A>G (p.Lys550Arg) rs529146881 0.00001
NM_025137.4(SPG11):c.1667T>G (p.Phe556Cys) rs375399685 0.00001
NM_025137.4(SPG11):c.1674A>G (p.Pro558=) rs763315402 0.00001
NM_025137.4(SPG11):c.1681A>G (p.Lys561Glu) rs1189064880 0.00001
NM_025137.4(SPG11):c.1753C>T (p.Pro585Ser) rs863224795 0.00001
NM_025137.4(SPG11):c.1759T>G (p.Leu587Val) rs1438765066 0.00001
NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly) rs763060505 0.00001
NM_025137.4(SPG11):c.1776G>A (p.Ser592=) rs940988883 0.00001
NM_025137.4(SPG11):c.1777G>A (p.Ala593Thr) rs971713077 0.00001
NM_025137.4(SPG11):c.177T>A (p.Ala59=) rs750527049 0.00001
NM_025137.4(SPG11):c.1780A>G (p.Ile594Val) rs762177930 0.00001
NM_025137.4(SPG11):c.179C>T (p.Ala60Val) rs2085181882 0.00001
NM_025137.4(SPG11):c.180G>A (p.Ala60=) rs765387108 0.00001
NM_025137.4(SPG11):c.1830G>C (p.Leu610Phe) rs1269762029 0.00001
NM_025137.4(SPG11):c.1831C>T (p.Leu611Phe) rs747979962 0.00001
NM_025137.4(SPG11):c.1871A>G (p.Glu624Gly) rs1022198629 0.00001
NM_025137.4(SPG11):c.187C>G (p.Leu63Val) rs754196423 0.00001
NM_025137.4(SPG11):c.1891+12A>G rs149719736 0.00001
NM_025137.4(SPG11):c.1891+8T>C rs370785527 0.00001
NM_025137.4(SPG11):c.191A>G (p.Gln64Arg) rs1231166649 0.00001
NM_025137.4(SPG11):c.1930A>T (p.Thr644Ser) rs776451921 0.00001
NM_025137.4(SPG11):c.1988A>G (p.Asp663Gly) rs1369245036 0.00001
NM_025137.4(SPG11):c.2026A>C (p.Lys676Gln) rs775487537 0.00001
NM_025137.4(SPG11):c.2027A>G (p.Lys676Arg) rs771884916 0.00001
NM_025137.4(SPG11):c.2079C>T (p.Ala693=) rs776740393 0.00001
NM_025137.4(SPG11):c.2129T>C (p.Ile710Thr) rs368686728 0.00001
NM_025137.4(SPG11):c.2158G>A (p.Glu720Lys) rs752347098 0.00001
NM_025137.4(SPG11):c.2199A>T (p.Leu733Phe) rs370856739 0.00001
NM_025137.4(SPG11):c.2200A>G (p.Lys734Glu) rs1381618021 0.00001
NM_025137.4(SPG11):c.2205G>A (p.Lys735=) rs747102973 0.00001
NM_025137.4(SPG11):c.2206A>G (p.Asn736Asp) rs775711520 0.00001
NM_025137.4(SPG11):c.2234T>G (p.Leu745Trp) rs1448574986 0.00001
NM_025137.4(SPG11):c.2305C>T (p.Arg769Cys) rs758119635 0.00001
NM_025137.4(SPG11):c.230G>A (p.Arg77His) rs1160672319 0.00001
NM_025137.4(SPG11):c.2316+1G>A rs312262740 0.00001
NM_025137.4(SPG11):c.2317G>A (p.Val773Ile) rs766696581 0.00001
NM_025137.4(SPG11):c.2321A>C (p.Glu774Ala) rs566318835 0.00001
NM_025137.4(SPG11):c.2376C>T (p.Phe792=) rs769270075 0.00001
NM_025137.4(SPG11):c.2379G>A (p.Val793=) rs202245950 0.00001
NM_025137.4(SPG11):c.2445-8G>A rs777673463 0.00001
NM_025137.4(SPG11):c.2445G>A (p.Arg815=) rs748048928 0.00001
NM_025137.4(SPG11):c.2470T>C (p.Phe824Leu) rs1157197953 0.00001
NM_025137.4(SPG11):c.2487T>G (p.Val829=) rs764475601 0.00001
NM_025137.4(SPG11):c.2493C>T (p.Asp831=) rs753148847 0.00001
NM_025137.4(SPG11):c.2509G>C (p.Asp837His) rs762708084 0.00001
NM_025137.4(SPG11):c.250T>C (p.Phe84Leu) rs749011406 0.00001
NM_025137.4(SPG11):c.2518G>A (p.Asp840Asn) rs769653781 0.00001
NM_025137.4(SPG11):c.2541T>C (p.His847=) rs1329473950 0.00001
NM_025137.4(SPG11):c.255G>A (p.Trp85Ter) rs957519261 0.00001
NM_025137.4(SPG11):c.257+7G>A rs1595944726 0.00001
NM_025137.4(SPG11):c.2571G>T (p.Trp857Cys) rs200542854 0.00001
NM_025137.4(SPG11):c.258-19T>C rs891893476 0.00001
NM_025137.4(SPG11):c.2594T>C (p.Ile865Thr) rs1444447384 0.00001
NM_025137.4(SPG11):c.2612dup (p.Ser871fs) rs750101275 0.00001
NM_025137.4(SPG11):c.2616A>G (p.Pro872=) rs905128570 0.00001
NM_025137.4(SPG11):c.2620+4A>C rs765873301 0.00001
NM_025137.4(SPG11):c.2620+6T>C rs762381864 0.00001
NM_025137.4(SPG11):c.2621-4G>A rs1394982559 0.00001
NM_025137.4(SPG11):c.2621-5T>C rs1331589550 0.00001
NM_025137.4(SPG11):c.265T>C (p.Trp89Arg) rs767024812 0.00001
NM_025137.4(SPG11):c.2688T>C (p.Ile896=) rs1243360802 0.00001
NM_025137.4(SPG11):c.2717A>G (p.Gln906Arg) rs2083706533 0.00001
NM_025137.4(SPG11):c.2727T>C (p.Tyr909=) rs759432908 0.00001
NM_025137.4(SPG11):c.2765T>C (p.Val922Ala) rs780318629 0.00001
NM_025137.4(SPG11):c.2774T>C (p.Ile925Thr) rs779573001 0.00001
NM_025137.4(SPG11):c.2801A>G (p.Tyr934Cys) rs777473151 0.00001
NM_025137.4(SPG11):c.2807G>A (p.Arg936Lys) rs755774331 0.00001
NM_025137.4(SPG11):c.2821G>C (p.Asp941His) rs767177124 0.00001
NM_025137.4(SPG11):c.2835-4A>G rs201830528 0.00001
NM_025137.4(SPG11):c.2894G>C (p.Ser965Thr) rs1329747068 0.00001
NM_025137.4(SPG11):c.2937C>A (p.Asn979Lys) rs141238220 0.00001
NM_025137.4(SPG11):c.2966A>G (p.His989Arg) rs752882400 0.00001
NM_025137.4(SPG11):c.2967T>C (p.His989=) rs767832837 0.00001
NM_025137.4(SPG11):c.2973A>G (p.Gln991=) rs372308185 0.00001
NM_025137.4(SPG11):c.2991G>A (p.Leu997=) rs200122358 0.00001
NM_025137.4(SPG11):c.3019G>A (p.Val1007Ile) rs2083566874 0.00001
NM_025137.4(SPG11):c.3038+20T>C rs371520578 0.00001
NM_025137.4(SPG11):c.3039-5T>G rs763224175 0.00001
NM_025137.4(SPG11):c.304C>T (p.Pro102Ser) rs758322703 0.00001
NM_025137.4(SPG11):c.3064T>C (p.Leu1022=) rs1434992344 0.00001
NM_025137.4(SPG11):c.3121C>T (p.Arg1041Ter) rs771813705 0.00001
NM_025137.4(SPG11):c.3122G>A (p.Arg1041Gln) rs746703646 0.00001
NM_025137.4(SPG11):c.3134G>A (p.Ser1045Asn) rs749192217 0.00001
NM_025137.4(SPG11):c.3195T>C (p.Ile1065=) rs757632864 0.00001
NM_025137.4(SPG11):c.3213T>G (p.Ser1071Arg) rs145195036 0.00001
NM_025137.4(SPG11):c.3221G>C (p.Ser1074Thr) rs758982525 0.00001
NM_025137.4(SPG11):c.3225G>T (p.Met1075Ile) rs1204053852 0.00001
NM_025137.4(SPG11):c.3265A>G (p.Met1089Val) rs766016524 0.00001
NM_025137.4(SPG11):c.3266T>C (p.Met1089Thr) rs1291491649 0.00001
NM_025137.4(SPG11):c.3280G>T (p.Gly1094Cys) rs1349552147 0.00001
NM_025137.4(SPG11):c.3291+3A>G rs773192977 0.00001
NM_025137.4(SPG11):c.3292-17T>C rs1284535585 0.00001
NM_025137.4(SPG11):c.3292-6dup rs777377848 0.00001
NM_025137.4(SPG11):c.32C>T (p.Ala11Val) rs911245988 0.00001
NM_025137.4(SPG11):c.3331G>A (p.Val1111Met) rs1291873470 0.00001
NM_025137.4(SPG11):c.3346T>C (p.Leu1116=) rs776626926 0.00001
NM_025137.4(SPG11):c.336A>C (p.Glu112Asp) rs1488126503 0.00001
NM_025137.4(SPG11):c.3399G>A (p.Gln1133=) rs1051475016 0.00001
NM_025137.4(SPG11):c.3403A>T (p.Thr1135Ser) rs1404221624 0.00001
NM_025137.4(SPG11):c.3412A>G (p.Ser1138Gly) rs377351819 0.00001
NM_025137.4(SPG11):c.3417C>G (p.Val1139=) rs1595875823 0.00001
NM_025137.4(SPG11):c.3453+14G>A rs932516786 0.00001
NM_025137.4(SPG11):c.3453+5A>G rs983973496 0.00001
NM_025137.4(SPG11):c.3454-9C>G rs769084328 0.00001
NM_025137.4(SPG11):c.3505A>G (p.Thr1169Ala) rs760533714 0.00001
NM_025137.4(SPG11):c.3510del (p.Ala1171fs) rs1363959441 0.00001
NM_025137.4(SPG11):c.3521-20T>C rs1257238224 0.00001
NM_025137.4(SPG11):c.3521-9T>C rs1395728939 0.00001
NM_025137.4(SPG11):c.3525A>G (p.Ala1175=) rs1432782468 0.00001
NM_025137.4(SPG11):c.3538C>A (p.Pro1180Thr) rs747910594 0.00001
NM_025137.4(SPG11):c.3546C>T (p.Phe1182=) rs780928415 0.00001
NM_025137.4(SPG11):c.3573T>C (p.Tyr1191=) rs1033114266 0.00001
NM_025137.4(SPG11):c.3586C>T (p.Arg1196Cys) rs767936997 0.00001
NM_025137.4(SPG11):c.3587G>A (p.Arg1196His) rs373641013 0.00001
NM_025137.4(SPG11):c.3616G>A (p.Gly1206Arg) rs1291602088 0.00001
NM_025137.4(SPG11):c.3620G>A (p.Arg1207Gln) rs768433207 0.00001
NM_025137.4(SPG11):c.3663C>A (p.Ile1221=) rs1388337783 0.00001
NM_025137.4(SPG11):c.3680A>G (p.Lys1227Arg) rs767920399 0.00001
NM_025137.4(SPG11):c.3684G>A (p.Gln1228=) rs759965980 0.00001
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs) rs1459810136 0.00001
NM_025137.4(SPG11):c.3692A>G (p.Gln1231Arg) rs374647717 0.00001
NM_025137.4(SPG11):c.3710C>T (p.Ala1237Val) rs752883289 0.00001
NM_025137.4(SPG11):c.3713A>G (p.Tyr1238Cys) rs150720530 0.00001
NM_025137.4(SPG11):c.3719T>C (p.Ile1240Thr) rs770843397 0.00001
NM_025137.4(SPG11):c.3778T>C (p.Leu1260=) rs776154524 0.00001
NM_025137.4(SPG11):c.3803T>C (p.Leu1268Pro) rs1036205200 0.00001
NM_025137.4(SPG11):c.3851G>A (p.Arg1284Lys) rs748208459 0.00001
NM_025137.4(SPG11):c.3892+5A>C rs758774049 0.00001
NM_025137.4(SPG11):c.3893-3C>T rs958984875 0.00001
NM_025137.4(SPG11):c.3893-5T>C rs772297517 0.00001
NM_025137.4(SPG11):c.3893C>T (p.Ala1298Val) rs768718170 0.00001
NM_025137.4(SPG11):c.3946C>T (p.Leu1316Phe) rs764652074 0.00001
NM_025137.4(SPG11):c.3969A>G (p.Thr1323=) rs1188260876 0.00001
NM_025137.4(SPG11):c.39C>T (p.Ala13=) rs759646328 0.00001
NM_025137.4(SPG11):c.4001+13C>G rs925091439 0.00001
NM_025137.4(SPG11):c.4002G>C (p.Arg1334Ser) rs1085307814 0.00001
NM_025137.4(SPG11):c.4032A>G (p.Ala1344=) rs777961845 0.00001
NM_025137.4(SPG11):c.4069C>T (p.Leu1357=) rs2083057421 0.00001
NM_025137.4(SPG11):c.4075del (p.Ile1359fs) rs1405032433 0.00001
NM_025137.4(SPG11):c.4085T>C (p.Leu1362Pro) rs757078269 0.00001
NM_025137.4(SPG11):c.4107T>A (p.Asn1369Lys) rs200700774 0.00001
NM_025137.4(SPG11):c.4116G>A (p.Leu1372=) rs763115113 0.00001
NM_025137.4(SPG11):c.4145A>G (p.Asn1382Ser) rs544040175 0.00001
NM_025137.4(SPG11):c.4148A>G (p.Tyr1383Cys) rs1020900055 0.00001
NM_025137.4(SPG11):c.4161+8A>G rs757993224 0.00001
NM_025137.4(SPG11):c.4185C>G (p.Phe1395Leu) rs138850981 0.00001
NM_025137.4(SPG11):c.4201G>C (p.Asp1401His) rs745439746 0.00001
NM_025137.4(SPG11):c.4215G>A (p.Leu1405=) rs1226426496 0.00001
NM_025137.4(SPG11):c.4216G>T (p.Ala1406Ser) rs748925327 0.00001
NM_025137.4(SPG11):c.423C>T (p.Leu141=) rs769960206 0.00001
NM_025137.4(SPG11):c.4245C>T (p.Thr1415=) rs1305666768 0.00001
NM_025137.4(SPG11):c.4284C>G (p.Pro1428=) rs1485815455 0.00001
NM_025137.4(SPG11):c.4287G>A (p.Gln1429=) rs139908662 0.00001
NM_025137.4(SPG11):c.429C>T (p.Asp143=) rs569364105 0.00001
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759 0.00001
NM_025137.4(SPG11):c.4309G>C (p.Glu1437Gln) rs1595860365 0.00001
NM_025137.4(SPG11):c.4318G>A (p.Asp1440Asn) rs569349723 0.00001
NM_025137.4(SPG11):c.4371G>C (p.Trp1457Cys) rs886819382 0.00001
NM_025137.4(SPG11):c.4378G>A (p.Val1460Ile) rs765071316 0.00001
NM_025137.4(SPG11):c.4405A>G (p.Ile1469Val) rs767802753 0.00001
NM_025137.4(SPG11):c.4435-20T>C rs775474229 0.00001
NM_025137.4(SPG11):c.4498A>G (p.Thr1500Ala) rs758867131 0.00001
NM_025137.4(SPG11):c.4512A>T (p.Gly1504=) rs539384073 0.00001
NM_025137.4(SPG11):c.4539T>C (p.His1513=) rs763700515 0.00001
NM_025137.4(SPG11):c.4548C>G (p.Asn1516Lys) rs759489082 0.00001
NM_025137.4(SPG11):c.454T>C (p.Leu152=) rs762866477 0.00001
NM_025137.4(SPG11):c.4561T>C (p.Ser1521Pro) rs748236366 0.00001
NM_025137.4(SPG11):c.4590A>G (p.Arg1530=) rs1470921765 0.00001
NM_025137.4(SPG11):c.4617T>C (p.Gly1539=) rs1227955161 0.00001
NM_025137.4(SPG11):c.4635+17C>T rs1328371346 0.00001
NM_025137.4(SPG11):c.4667A>G (p.Tyr1556Cys) rs1374442173 0.00001
NM_025137.4(SPG11):c.4674G>C (p.Leu1558=) rs376125033 0.00001
NM_025137.4(SPG11):c.4695T>C (p.Tyr1565=) rs369641994 0.00001
NM_025137.4(SPG11):c.4698A>G (p.Lys1566=) rs1274205803 0.00001
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr) rs767343843 0.00001
NM_025137.4(SPG11):c.4739A>G (p.Glu1580Gly) rs1035956118 0.00001
NM_025137.4(SPG11):c.4742C>T (p.Thr1581Met) rs766297012 0.00001
NM_025137.4(SPG11):c.4743G>A (p.Thr1581=) rs762755586 0.00001
NM_025137.4(SPG11):c.4744-7T>C rs1179242305 0.00001
NM_025137.4(SPG11):c.4750A>G (p.Thr1584Ala) rs1595851014 0.00001
NM_025137.4(SPG11):c.4753G>T (p.Ala1585Ser) rs1567143067 0.00001
NM_025137.4(SPG11):c.4757C>G (p.Ala1586Gly) rs1332100392 0.00001
NM_025137.4(SPG11):c.4786A>G (p.Met1596Val) rs1316107379 0.00001
NM_025137.4(SPG11):c.4790G>A (p.Trp1597Ter) rs753920931 0.00001
NM_025137.4(SPG11):c.4801C>G (p.Gln1601Glu) rs764442362 0.00001
NM_025137.4(SPG11):c.4822C>T (p.Leu1608Phe) rs1205123910 0.00001
NM_025137.4(SPG11):c.4827G>A (p.Met1609Ile) rs1208218561 0.00001
NM_025137.4(SPG11):c.4877T>G (p.Phe1626Cys) rs553905886 0.00001
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter) rs368276916 0.00001
NM_025137.4(SPG11):c.4899C>T (p.Phe1633=) rs375726465 0.00001
NM_025137.4(SPG11):c.4906+9A>G rs756226746 0.00001
NM_025137.4(SPG11):c.4910C>A (p.Pro1637Gln) rs755996252 0.00001
NM_025137.4(SPG11):c.4917G>A (p.Val1639=) rs1452851829 0.00001
NM_025137.4(SPG11):c.4933C>T (p.Leu1645Phe) rs147735958 0.00001
NM_025137.4(SPG11):c.4939C>T (p.Gln1647Ter) rs959026057 0.00001
NM_025137.4(SPG11):c.4950G>T (p.Lys1650Asn) rs764587462 0.00001
NM_025137.4(SPG11):c.496C>G (p.Leu166Val) rs372037097 0.00001
NM_025137.4(SPG11):c.4970A>G (p.Asn1657Ser) rs376207036 0.00001
NM_025137.4(SPG11):c.4992C>T (p.Tyr1664=) rs933291966 0.00001
NM_025137.4(SPG11):c.5019T>C (p.Cys1673=) rs770619204 0.00001
NM_025137.4(SPG11):c.5043G>A (p.Gln1681=) rs1595845600 0.00001
NM_025137.4(SPG11):c.5058C>T (p.Phe1686=) rs1435099458 0.00001
NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr) rs779161014 0.00001
NM_025137.4(SPG11):c.5077G>A (p.Ala1693Thr) rs753244084 0.00001
NM_025137.4(SPG11):c.5081A>T (p.Glu1694Val) rs2082747020 0.00001
NM_025137.4(SPG11):c.5082A>G (p.Glu1694=) rs914692956 0.00001
NM_025137.4(SPG11):c.5094A>G (p.Leu1698=) rs759063821 0.00001
NM_025137.4(SPG11):c.5121+18T>C rs756471507 0.00001
NM_025137.4(SPG11):c.5127A>G (p.Thr1709=) rs1393655599 0.00001
NM_025137.4(SPG11):c.5151C>T (p.His1717=) rs1157164793 0.00001
NM_025137.4(SPG11):c.5156A>G (p.Glu1719Gly) rs769858527 0.00001
NM_025137.4(SPG11):c.5158C>T (p.Gln1720Ter) rs1060501173 0.00001
NM_025137.4(SPG11):c.519C>T (p.Ile173=) rs777235892 0.00001
NM_025137.4(SPG11):c.522A>G (p.Leu174=) rs769257325 0.00001
NM_025137.4(SPG11):c.5249C>T (p.Ser1750Phe) rs1051920299 0.00001
NM_025137.4(SPG11):c.5267C>G (p.Ala1756Gly) rs1185441476 0.00001
NM_025137.4(SPG11):c.5269C>T (p.His1757Tyr) rs1060501170 0.00001
NM_025137.4(SPG11):c.5272G>A (p.Val1758Met) rs773125953 0.00001
NM_025137.4(SPG11):c.5275G>T (p.Ala1759Ser) rs1346852806 0.00001
NM_025137.4(SPG11):c.5286C>T (p.His1762=) rs769919296 0.00001
NM_025137.4(SPG11):c.5303G>C (p.Ser1768Thr) rs1006117026 0.00001
NM_025137.4(SPG11):c.5306T>C (p.Met1769Thr) rs748258958 0.00001
NM_025137.4(SPG11):c.5322del (p.Leu1775fs) rs2082714895 0.00001
NM_025137.4(SPG11):c.536C>A (p.Pro179His) rs144167846 0.00001
NM_025137.4(SPG11):c.5388G>A (p.Glu1796=) rs917858944 0.00001
NM_025137.4(SPG11):c.5392G>A (p.Glu1798Lys) rs201254271 0.00001
NM_025137.4(SPG11):c.5416A>G (p.Ile1806Val) rs1427065816 0.00001
NM_025137.4(SPG11):c.5434G>C (p.Gly1812Arg) rs1309027007 0.00001
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter) rs312262767 0.00001
NM_025137.4(SPG11):c.5489G>A (p.Gly1830Asp) rs529748787 0.00001
NM_025137.4(SPG11):c.5564T>C (p.Leu1855Ser) rs138009927 0.00001
NM_025137.4(SPG11):c.5595A>G (p.Thr1865=) rs375403626 0.00001
NM_025137.4(SPG11):c.5598C>T (p.Cys1866=) rs570599267 0.00001
NM_025137.4(SPG11):c.561A>G (p.Val187=) rs1177000583 0.00001
NM_025137.4(SPG11):c.5648G>A (p.Gly1883Glu) rs1298405606 0.00001
NM_025137.4(SPG11):c.5651G>T (p.Arg1884Leu) rs767776590 0.00001
NM_025137.4(SPG11):c.5669G>A (p.Cys1890Tyr) rs770861439 0.00001
NM_025137.4(SPG11):c.566A>G (p.Asn189Ser) rs752834137 0.00001
NM_025137.4(SPG11):c.5671G>A (p.Val1891Met) rs1483911645 0.00001
NM_025137.4(SPG11):c.5688A>C (p.Arg1896Ser) rs2082706047 0.00001
NM_025137.4(SPG11):c.568T>C (p.Cys190Arg) rs767712066 0.00001
NM_025137.4(SPG11):c.5691A>G (p.Val1897=) rs150077116 0.00001
NM_025137.4(SPG11):c.5703T>C (p.Phe1901=) rs1400427975 0.00001
NM_025137.4(SPG11):c.5720A>G (p.Asp1907Gly) rs1158214037 0.00001
NM_025137.4(SPG11):c.5741G>T (p.Cys1914Phe) rs752725391 0.00001
NM_025137.4(SPG11):c.5757_5758del (p.Glu1921fs) rs771558571 0.00001
NM_025137.4(SPG11):c.5772_5781dup (p.His1928fs) rs779321661 0.00001
NM_025137.4(SPG11):c.5786C>G (p.Pro1929Arg) rs375020581 0.00001
NM_025137.4(SPG11):c.5811T>C (p.Ser1937=) rs775073827 0.00001
NM_025137.4(SPG11):c.5818C>T (p.Leu1940=) rs745716037 0.00001
NM_025137.4(SPG11):c.581C>T (p.Pro194Leu) rs573482671 0.00001
NM_025137.4(SPG11):c.5838C>T (p.Pro1946=) rs755068950 0.00001
NM_025137.4(SPG11):c.5841C>G (p.Asp1947Glu) rs372380495 0.00001
NM_025137.4(SPG11):c.5848C>T (p.Leu1950=) rs758810317 0.00001
NM_025137.4(SPG11):c.5860C>T (p.His1954Tyr) rs368382627 0.00001
NM_025137.4(SPG11):c.5866+1G>A rs765725393 0.00001
NM_025137.4(SPG11):c.5920G>T (p.Val1974Leu) rs770707105 0.00001
NM_025137.4(SPG11):c.5925_5934dup (p.Val1979Ter) rs749652788 0.00001
NM_025137.4(SPG11):c.5947A>C (p.Lys1983Gln) rs1198502086 0.00001
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter) rs200793464 0.00001
NM_025137.4(SPG11):c.5975G>A (p.Arg1992Gln) rs141262934 0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775 0.00001
NM_025137.4(SPG11):c.5987G>C (p.Cys1996Ser) rs1567132702 0.00001
NM_025137.4(SPG11):c.5989C>T (p.Leu1997=) rs1471262430 0.00001
NM_025137.4(SPG11):c.599T>C (p.Val200Ala) rs553484553 0.00001
NM_025137.4(SPG11):c.6006+15G>T rs1313329508 0.00001
NM_025137.4(SPG11):c.6009G>T (p.Glu2003Asp) rs954483795 0.00001
NM_025137.4(SPG11):c.6011T>C (p.Leu2004Ser) rs995829315 0.00001
NM_025137.4(SPG11):c.6017G>A (p.Cys2006Tyr) rs1179229360 0.00001
NM_025137.4(SPG11):c.6061C>T (p.Arg2021Trp) rs777943276 0.00001
NM_025137.4(SPG11):c.6067A>G (p.Ile2023Val) rs981262919 0.00001
NM_025137.4(SPG11):c.6092G>A (p.Arg2031Gln) rs1365555358 0.00001
NM_025137.4(SPG11):c.6101G>A (p.Arg2034Gln) rs750101301 0.00001
NM_025137.4(SPG11):c.612T>C (p.Ile204=) rs906644527 0.00001
NM_025137.4(SPG11):c.6155T>C (p.Leu2052Pro) rs1430100305 0.00001
NM_025137.4(SPG11):c.6156C>T (p.Leu2052=) rs752218927 0.00001
NM_025137.4(SPG11):c.6175C>T (p.Arg2059Trp) rs755438310 0.00001
NM_025137.4(SPG11):c.6180G>C (p.Glu2060Asp) rs753980126 0.00001
NM_025137.4(SPG11):c.6205+1G>A rs753650233 0.00001
NM_025137.4(SPG11):c.6205+8A>G rs763990388 0.00001
NM_025137.4(SPG11):c.6209A>G (p.His2070Arg) rs202069061 0.00001
NM_025137.4(SPG11):c.6226C>A (p.Pro2076Thr) rs755953167 0.00001
NM_025137.4(SPG11):c.6252T>A (p.Leu2084=) rs1231775993 0.00001
NM_025137.4(SPG11):c.627C>T (p.Cys209=) rs768344320 0.00001
NM_025137.4(SPG11):c.6326A>G (p.His2109Arg) rs780979118 0.00001
NM_025137.4(SPG11):c.6339T>G (p.Ser2113=) rs764165583 0.00001
NM_025137.4(SPG11):c.6343A>G (p.Thr2115Ala) rs2082447213 0.00001
NM_025137.4(SPG11):c.6344-5C>T rs1243652760 0.00001
NM_025137.4(SPG11):c.6380C>A (p.Thr2127Asn) rs773909173 0.00001
NM_025137.4(SPG11):c.6390C>T (p.Cys2130=) rs1391522611 0.00001
NM_025137.4(SPG11):c.6395T>C (p.Met2132Thr) rs771913148 0.00001
NM_025137.4(SPG11):c.6397G>A (p.Glu2133Lys) rs2082402813 0.00001
NM_025137.4(SPG11):c.6406A>G (p.Ile2136Val) rs370189964 0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_025137.4(SPG11):c.6423C>T (p.Ala2141=) rs952927034 0.00001
NM_025137.4(SPG11):c.6428A>C (p.His2143Pro) rs1490278448 0.00001
NM_025137.4(SPG11):c.6435C>T (p.Leu2145=) rs758895071 0.00001
NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile) rs543344637 0.00001
NM_025137.4(SPG11):c.6468T>C (p.Tyr2156=) rs146240471 0.00001
NM_025137.4(SPG11):c.6470G>A (p.Gly2157Glu) rs1437823754 0.00001
NM_025137.4(SPG11):c.6477+8G>A rs1271281447 0.00001
NM_025137.4(SPG11):c.650G>A (p.Ser217Asn) rs1037956688 0.00001
NM_025137.4(SPG11):c.6511G>A (p.Glu2171Lys) rs1051526194 0.00001
NM_025137.4(SPG11):c.6526T>C (p.Phe2176Leu) rs752165478 0.00001
NM_025137.4(SPG11):c.6559G>A (p.Val2187Met) rs2082372397 0.00001
NM_025137.4(SPG11):c.6577T>G (p.Leu2193Val) rs772999696 0.00001
NM_025137.4(SPG11):c.6584C>T (p.Pro2195Leu) rs765217079 0.00001
NM_025137.4(SPG11):c.6585+7G>A rs1060504157 0.00001
NM_025137.4(SPG11):c.6585G>A (p.Pro2195=) rs1206211976 0.00001
NM_025137.4(SPG11):c.6586-5G>A rs2082337023 0.00001
NM_025137.4(SPG11):c.6626G>A (p.Arg2209His) rs576265832 0.00001
NM_025137.4(SPG11):c.6628T>C (p.Cys2210Arg) rs761830487 0.00001
NM_025137.4(SPG11):c.6631C>T (p.Arg2211Cys) rs148260507 0.00001
NM_025137.4(SPG11):c.6660G>A (p.Met2220Ile) rs763092541 0.00001
NM_025137.4(SPG11):c.6669G>A (p.Leu2223=) rs1034401019 0.00001
NM_025137.4(SPG11):c.6672C>T (p.Cys2224=) rs770198283 0.00001
NM_025137.4(SPG11):c.6678C>T (p.Ser2226=) rs1193369646 0.00001
NM_025137.4(SPG11):c.668-5A>G rs1177386932 0.00001
NM_025137.4(SPG11):c.6685C>T (p.Arg2229Trp) rs751245734 0.00001
NM_025137.4(SPG11):c.6686G>A (p.Arg2229Gln) rs781690910 0.00001
NM_025137.4(SPG11):c.6696C>T (p.Gly2232=) rs758000490 0.00001
NM_025137.4(SPG11):c.6697G>A (p.Glu2233Lys) rs373587870 0.00001
NM_025137.4(SPG11):c.6707A>T (p.Glu2236Val) rs1428941848 0.00001
NM_025137.4(SPG11):c.6712G>A (p.Ala2238Thr) rs35504505 0.00001
NM_025137.4(SPG11):c.6718C>T (p.Arg2240Cys) rs146937747 0.00001
NM_025137.4(SPG11):c.6724C>T (p.Gln2242Ter) rs866400911 0.00001
NM_025137.4(SPG11):c.6726A>G (p.Gln2242=) rs376245210 0.00001
NM_025137.4(SPG11):c.6755-13A>G rs762051999 0.00001
NM_025137.4(SPG11):c.6755-17C>T rs1595817791 0.00001
NM_025137.4(SPG11):c.6790C>G (p.Leu2264Val) rs1264367885 0.00001
NM_025137.4(SPG11):c.6805C>T (p.Leu2269=) rs781036043 0.00001
NM_025137.4(SPG11):c.6814A>T (p.Met2272Leu) rs1186136891 0.00001
NM_025137.4(SPG11):c.6819G>A (p.Leu2273=) rs1015873288 0.00001
NM_025137.4(SPG11):c.6843+7C>T rs1322942539 0.00001
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter) rs312262785 0.00001
NM_025137.4(SPG11):c.6866A>G (p.Gln2289Arg) rs140563925 0.00001
NM_025137.4(SPG11):c.6871T>C (p.Cys2291Arg) rs772796744 0.00001
NM_025137.4(SPG11):c.6881T>C (p.Leu2294Pro) rs1275110844 0.00001
NM_025137.4(SPG11):c.6893T>C (p.Ile2298Thr) rs1452765602 0.00001
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506 0.00001
NM_025137.4(SPG11):c.6907C>G (p.His2303Asp) rs777915558 0.00001
NM_025137.4(SPG11):c.6908A>T (p.His2303Leu) rs1350164343 0.00001
NM_025137.4(SPG11):c.6921T>C (p.Thr2307=) rs1460874304 0.00001
NM_025137.4(SPG11):c.6939C>T (p.Leu2313=) rs1298022335 0.00001
NM_025137.4(SPG11):c.695A>G (p.Tyr232Cys) rs375915115 0.00001
NM_025137.4(SPG11):c.6989G>A (p.Arg2330Gln) rs142339015 0.00001
NM_025137.4(SPG11):c.699A>T (p.Val233=) rs1416160421 0.00001
NM_025137.4(SPG11):c.7035A>T (p.Pro2345=) rs776878909 0.00001
NM_025137.4(SPG11):c.703C>T (p.His235Tyr) rs148934301 0.00001
NM_025137.4(SPG11):c.7050T>C (p.Ile2350=) rs758862344 0.00001
NM_025137.4(SPG11):c.7054T>C (p.Tyr2352His) rs149711747 0.00001
NM_025137.4(SPG11):c.7115T>A (p.Leu2372Ter) rs762984907 0.00001
NM_025137.4(SPG11):c.7137A>G (p.Glu2379=) rs1398977843 0.00001
NM_025137.4(SPG11):c.7138G>T (p.Glu2380Ter) rs369467143 0.00001
NM_025137.4(SPG11):c.7151+9T>C rs1301085412 0.00001
NM_025137.4(SPG11):c.7152-1G>C rs200079802 0.00001
NM_025137.4(SPG11):c.7152-8T>G rs1281133135 0.00001
NM_025137.4(SPG11):c.7155T>C (p.Tyr2385=) rs778305085 0.00001
NM_025137.4(SPG11):c.7164T>A (p.His2388Gln) rs1406897126 0.00001
NM_025137.4(SPG11):c.7166A>G (p.Gln2389Arg) rs1321393268 0.00001
NM_025137.4(SPG11):c.716C>T (p.Ala239Val) rs764680914 0.00001
NM_025137.4(SPG11):c.7172C>T (p.Thr2391Ile) rs375508694 0.00001
NM_025137.4(SPG11):c.7184T>C (p.Met2395Thr) rs754598618 0.00001
NM_025137.4(SPG11):c.7255_7256dup (p.Phe2420fs) rs532737377 0.00001
NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile) rs779900397 0.00001
NM_025137.4(SPG11):c.7263T>C (p.Tyr2421=) rs758146508 0.00001
NM_025137.4(SPG11):c.7270G>A (p.Val2424Ile) rs1300000065 0.00001
NM_025137.4(SPG11):c.7275T>G (p.Asn2425Lys) rs778864726 0.00001
NM_025137.4(SPG11):c.7320G>A (p.Met2440Ile) rs566201722 0.00001
NM_025137.4(SPG11):c.7322T>C (p.Leu2441Pro) rs773503745 0.00001
NM_025137.4(SPG11):c.7326del (p.Gly2443fs) rs751228307 0.00001
NM_025137.4(SPG11):c.733A>G (p.Met245Val) rs863224796 0.00001
NM_025137.4(SPG11):c.757C>T (p.Pro253Ser) rs777515617 0.00001
NM_025137.4(SPG11):c.764A>C (p.Lys255Thr) rs758601401 0.00001
NM_025137.4(SPG11):c.77T>C (p.Leu26Pro) rs757155556 0.00001
NM_025137.4(SPG11):c.783A>G (p.Ser261=) rs757513010 0.00001
NM_025137.4(SPG11):c.796C>T (p.Gln266Ter) rs1234882277 0.00001
NM_025137.4(SPG11):c.79C>T (p.Pro27Ser) rs777798718 0.00001
NM_025137.4(SPG11):c.800A>C (p.Asp267Ala) rs1189328432 0.00001
NM_025137.4(SPG11):c.80C>T (p.Pro27Leu) rs756011988 0.00001
NM_025137.4(SPG11):c.811G>A (p.Ala271Thr) rs770722777 0.00001
NM_025137.4(SPG11):c.828C>A (p.Ser276=) rs780079430 0.00001
NM_025137.4(SPG11):c.838G>A (p.Ala280Thr) rs757501528 0.00001
NM_025137.4(SPG11):c.84G>T (p.Met28Ile) rs201316593 0.00001
NM_025137.4(SPG11):c.865T>A (p.Phe289Ile) rs1316470185 0.00001
NM_025137.4(SPG11):c.936C>T (p.Gly312=) rs771082349 0.00001
NM_025137.4(SPG11):c.946G>T (p.Asp316Tyr) rs1040889072 0.00001
NM_025137.4(SPG11):c.95C>T (p.Pro32Leu) rs368405168 0.00001
NM_025137.4(SPG11):c.980T>C (p.Leu327Pro) rs201444186 0.00001
NM_025137.4(SPG11):c.999A>T (p.Gln333His) rs753613456 0.00001
NM_031448.6(C19orf12):c.-11+223G>A rs1339985700 0.00001
NM_031448.6(C19orf12):c.-6G>A rs781205888 0.00001
NM_031448.6(C19orf12):c.-7C>T rs142481023 0.00001
NM_031448.6(C19orf12):c.123C>T (p.Val41=) rs374520604 0.00001
NM_031448.6(C19orf12):c.127G>A (p.Gly43Ser) rs1972485341 0.00001
NM_031448.6(C19orf12):c.160+8C>T rs186360260 0.00001
NM_031448.6(C19orf12):c.161-2del rs1352744778 0.00001
NM_031448.6(C19orf12):c.169G>C (p.Val57Leu) rs1972190861 0.00001
NM_031448.6(C19orf12):c.170T>C (p.Val57Ala) rs766939148 0.00001
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) rs515726205 0.00001
NM_031448.6(C19orf12):c.180G>C (p.Leu60=) rs762116472 0.00001
NM_031448.6(C19orf12):c.214C>T (p.Pro72Ser) rs1487944357 0.00001
NM_031448.6(C19orf12):c.221C>G (p.Pro74Arg) rs747900430 0.00001
NM_031448.6(C19orf12):c.238C>T (p.Leu80=) rs753364652 0.00001
NM_031448.6(C19orf12):c.277G>A (p.Ala93Thr) rs964208776 0.00001
NM_031448.6(C19orf12):c.326C>T (p.Ala109Val) rs752858139 0.00001
NM_031448.6(C19orf12):c.385G>A (p.Val129Ile) rs1412677570 0.00001
NM_031448.6(C19orf12):c.396G>A (p.Glu132=) rs752074465 0.00001
NM_031448.6(C19orf12):c.401G>A (p.Arg134Gln) rs778355384 0.00001
NM_031448.6(C19orf12):c.83C>T (p.Ser28Phe) rs1204865094 0.00001
NM_031448.6(C19orf12):c.85G>C (p.Gly29Arg) rs746178765 0.00001
NM_152415.3(VPS37A):c.303A>G (p.Pro101=) rs759450791 0.00001
NM_152415.3(VPS37A):c.424A>G (p.Ser142Gly) rs371463914 0.00001
NM_152415.3(VPS37A):c.451G>T (p.Ala151Ser) rs1326352833 0.00001
NM_152415.3(VPS37A):c.560C>T (p.Thr187Ile) rs759995761 0.00001
NM_152415.3(VPS37A):c.642+10G>A rs531893337 0.00001
NM_152415.3(VPS37A):c.642+9C>T rs1320293854 0.00001
NM_152415.3(VPS37A):c.643-19A>C rs1253480939 0.00001
NM_152415.3(VPS37A):c.648C>A (p.Ser216Arg) rs201069468 0.00001
NM_152415.3(VPS37A):c.745G>A (p.Glu249Lys) rs759116675 0.00001
NM_152415.3(VPS37A):c.866G>A (p.Ser289Asn) rs376210724 0.00001
NC_000001.10:g.(?_108679275)_(111674176_?)del
NC_000001.10:g.(?_110145976)_(110173774_?)dup
NC_000001.10:g.(?_17312716)_(17338233_?)dup
NC_000001.10:g.(?_17316166)_(17332293_?)del
NC_000001.10:g.(?_17316166)_(17338233_?)dup
NC_000001.10:g.(?_17330807)_(17332293_?)del
NC_000001.10:g.(?_228194830)_(228566496_?)del
NC_000001.10:g.(?_228194830)_(228566496_?)dup
NC_000001.11:g.(?_16991714)_(16992601_?)del
NC_000003.11:g.(?_100432510)_(100438922_?)dup
NC_000003.11:g.(?_100432520)_(100438912_?)dup
NC_000003.11:g.(?_100432530)_(100432733_?)dup
NC_000003.11:g.(?_100432530)_(100438902_?)dup
NC_000003.11:g.(?_100432530)_(100438912_?)dup
NC_000003.11:g.(?_100432530)_(100438922_?)dup
NC_000003.11:g.(?_100432530)_(100467375_?)del
NC_000003.11:g.(?_100455410)_(100463785_?)del
NC_000003.11:g.(?_100463667)_(100467385_?)dup
NC_000005.9:g.(?_10250453)_(10264895_?)del
NC_000005.9:g.(?_10250453)_(10264895_?)dup
NC_000005.9:g.(?_10264748)_(10264895_?)dup
NC_000008.10:g.(?_16850399)_(20112692_?)dup
NC_000008.10:g.(?_17133886)_(17133996_?)del
NC_000008.10:g.(?_37595441)_(38961219_?)dup
NC_000008.10:g.(?_38095036)_(38095747_?)del
NC_000008.10:g.(?_38117538)_(38961219_?)dup
NC_000008.11:g.(?_38242230)_(38247855_?)del
NC_000010.10:g.(?_97366519)_(97366720_?)dup
NC_000010.10:g.(?_97366519)_(97626140_?)del
NC_000010.10:g.(?_97376214)_(97376391_?)del
NC_000010.10:g.(?_97402729)_(97413134_?)dup
NC_000010.11:g.(?_103089662)_(103174968_?)del
NC_000014.8:g.(?_102843049)_(102931651_?)del
NC_000014.8:g.(?_102843059)_(102843297_?)dup
NC_000014.8:g.(?_102843059)_(102964594_?)del
NC_000014.8:g.(?_102843059)_(102964594_?)dup
NC_000014.8:g.(?_102873665)_(102964066_?)dup
NC_000014.8:g.(?_102880963)_(102894729_?)del
NC_000014.8:g.(?_102891306)_(102901558_?)del
NC_000014.8:g.(?_102894567)_(102898485_?)del
NC_000014.8:g.(?_102894577)_(102894729_?)del
NC_000014.8:g.(?_102898133)_(102968818_?)dup
NC_000014.8:g.(?_102899405)_(102901470_?)del
NC_000014.8:g.(?_102915956)_(102918974_?)dup
NC_000014.8:g.(?_102931468)_(102931651_?)del
NC_000014.8:g.(?_102963296)_(102964594_?)del
NC_000014.8:g.(?_102963296)_(102964594_?)dup
NC_000014.9:g.(?_102376712)_(102376950_?)del
NC_000014.9:g.(?_102407328)_(102450659_?)dup
NC_000014.9:g.(?_102465131)_(102465314_?)dup
NC_000015.10:g.(?_44563111)_(44860174_?)dup
NC_000015.10:g.(?_44564537)_(44663657_?)dup
NC_000015.10:g.(?_44570505)_(44575061_?)del
NC_000015.10:g.(?_44570525)_(44570658_?)del
NC_000015.10:g.(?_44570525)_(44575041_?)del
NC_000015.10:g.(?_44572663)_(44575061_?)del
NC_000015.10:g.(?_44572673)_(44575051_?)del
NC_000015.10:g.(?_44572683)_(44575041_?)del
NC_000015.10:g.(?_44585626)_(44589424_?)dup
NC_000015.10:g.(?_44595239)_(44600652_?)del
NC_000015.10:g.(?_44595249)_(44600642_?)del
NC_000015.10:g.(?_44595249)_(44663657_?)del
NC_000015.10:g.(?_44626311)_(44626527_?)del
NC_000015.10:g.(?_44626321)_(44626517_?)del
NC_000015.10:g.(?_44648856)_(44663657_?)del
NC_000015.9:g.(?_44855299)_44955865dup
NC_000015.9:g.(?_44855319)_(44855519_?)del
NC_000015.9:g.(?_44855319)_(44867259_?)dup
NC_000015.9:g.(?_44855319)_(44878413_?)dup
NC_000015.9:g.(?_44855319)_(44952834_?)del
NC_000015.9:g.(?_44856725)_(44856916_?)del
NC_000015.9:g.(?_44856725)_(44858523_?)del
NC_000015.9:g.(?_44859602)_(44867259_?)del
NC_000015.9:g.(?_44859602)_(44889161_?)del
NC_000015.9:g.(?_44862703)_(44862876_?)del
NC_000015.9:g.(?_44862713)_(44867249_?)del
NC_000015.9:g.(?_44864989)_(44988554_?)del
NC_000015.9:g.(?_44865725)_(44867259_?)del
NC_000015.9:g.(?_44865725)_(44867259_?)dup
NC_000015.9:g.(?_44867080)_(44867259_?)del
NC_000015.9:g.(?_44876002)_(44876766_?)del
NC_000015.9:g.(?_44877814)_(44878413_?)del
NC_000015.9:g.(?_44877814)_(44881632_?)dup
NC_000015.9:g.(?_44877814)_(44955845_?)dup
NC_000015.9:g.(?_44877834)_(44881612_?)dup
NC_000015.9:g.(?_44881430)_(44884656_?)del
NC_000015.9:g.(?_44881430)_(44955845_?)dup
NC_000015.9:g.(?_44881444)_(44925841_?)dup
NC_000015.9:g.(?_44881450)_(44925835_?)dup
NC_000015.9:g.(?_44884509)_(44884656_?)del
NC_000015.9:g.(?_44887437)_(44891054_?)dup
NC_000015.9:g.(?_44887437)_(44892850_?)del
NC_000015.9:g.(?_44887437)_(44925855_?)del
NC_000015.9:g.(?_44888261)_(44892850_?)del
NC_000015.9:g.(?_44890443)_(44890591_?)del
NC_000015.9:g.(?_44898203)_(44907784_?)del
NC_000015.9:g.(?_44898203)_(44941229_?)del
NC_000015.9:g.(?_44898203)_(44955845_?)del
NC_000015.9:g.(?_44900622)_(44955865_?)dup
NC_000015.9:g.(?_44912368)_(44925855_?)del
NC_000015.9:g.(?_44918519)_(44921596_?)del
NC_000015.9:g.(?_44918627)_(44928701_?)del
NC_000015.9:g.(?_44921451)_(44925371_?)del
NC_000015.9:g.(?_44941044)_(44944484_?)del
NC_000015.9:g.(?_44941054)_(44944474_?)del
NC_000015.9:g.(?_44945058)_(44949397_?)del
NC_000016.9:g.(?_18804554)_(18812808_?)dup
NC_000017.10:g.(?_4916928)_(4927446_?)del
NC_000017.10:g.(?_4923281)_(4927456_?)del
NC_000017.10:g.(?_4926743)_(4927446_?)del
NC_000017.11:g.(?_4898726)_(5024161_?)dup
NC_000019.10:g.(?_29702692)_(29714949_?)del
NC_000019.10:g.7535556G>A rs200591590
NC_000019.10:g.7535557G>A
NC_000019.10:g.7535562G>A
NC_000019.10:g.7535563_7535564delinsGG rs2022812491
NC_000019.10:g.7535564T>A rs1035379229
NC_000019.10:g.7535573G>A
NC_000019.10:g.7535576T>C
NC_000019.10:g.7535588G>C rs764534459
NC_000019.10:g.7535591C>A
NC_000019.10:g.7535591C>T rs2022814781
NC_000019.10:g.7535595G>A
NC_000019.10:g.7555609dup rs2146105309
NC_000019.9:g.(?_30193609)_(30205846_?)dup
NC_000019.9:g.(?_30205794)_(30205836_?)del
NC_000019.9:g.(?_33167170)_(36643309_?)dup
NC_000019.9:g.(?_7527018)_(7624057_?)dup
NC_000019.9:g.(?_7604804)_(7607970_?)del
NC_000019.9:g.(?_7617787)_(7622096_?)del
NC_000019.9:g.(?_7618738)_(7619178_?)del
NM_001010867.4(IBA57):c.1005C>T (p.Ala335=)
NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr) rs150912462
NM_001010867.4(IBA57):c.1033G>T (p.Ala345Ser) rs150912462
NM_001010867.4(IBA57):c.1041G>T (p.Val347=)
NM_001010867.4(IBA57):c.1042C>G (p.Pro348Ala)
NM_001010867.4(IBA57):c.1055C>T (p.Pro352Leu)
NM_001010867.4(IBA57):c.1065del (p.Lys356fs) rs2124977415
NM_001010867.4(IBA57):c.116G>A (p.Gly39Asp)
NM_001010867.4(IBA57):c.143G>A (p.Trp48Ter)
NM_001010867.4(IBA57):c.147C>G (p.Ala49=)
NM_001010867.4(IBA57):c.156G>A (p.Arg52=) rs1571913232
NM_001010867.4(IBA57):c.157C>T (p.Leu53=)
NM_001010867.4(IBA57):c.169A>G (p.Thr57Ala)
NM_001010867.4(IBA57):c.172C>G (p.Leu58Val)
NM_001010867.4(IBA57):c.173T>C (p.Leu58Pro)
NM_001010867.4(IBA57):c.193_203dup (p.Phe69fs)
NM_001010867.4(IBA57):c.195C>T (p.Asp65=)
NM_001010867.4(IBA57):c.208C>T (p.Leu70=)
NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala) rs1420144150
NM_001010867.4(IBA57):c.245G>C (p.Ser82Thr)
NM_001010867.4(IBA57):c.253_276del (p.Ala85_Ala92del)
NM_001010867.4(IBA57):c.262dup (p.Ala88fs) rs1558123212
NM_001010867.4(IBA57):c.264C>T (p.Ala88=)
NM_001010867.4(IBA57):c.265_286dup (p.Tyr96fs) rs2034846986
NM_001010867.4(IBA57):c.269C>T (p.Pro90Leu)
NM_001010867.4(IBA57):c.26G>T (p.Gly9Val)
NM_001010867.4(IBA57):c.272C>G (p.Ala91Gly) rs539907686
NM_001010867.4(IBA57):c.27C>T (p.Gly9=)
NM_001010867.4(IBA57):c.284_285insT (p.Tyr96fs)
NM_001010867.4(IBA57):c.285C>A (p.Gly95=)
NM_001010867.4(IBA57):c.285C>T (p.Gly95=) rs1276192566
NM_001010867.4(IBA57):c.298C>T (p.Leu100=) rs12132960
NM_001010867.4(IBA57):c.304G>A (p.Val102Met) rs753218907
NM_001010867.4(IBA57):c.305T>C (p.Val102Ala) rs759005478
NM_001010867.4(IBA57):c.30C>T (p.Ala10=)
NM_001010867.4(IBA57):c.315G>A (p.Arg105=)
NM_001010867.4(IBA57):c.316A>T (p.Thr106Ser)
NM_001010867.4(IBA57):c.319C>T (p.Leu107Phe)
NM_001010867.4(IBA57):c.31A>T (p.Thr11Ser) rs2034839816
NM_001010867.4(IBA57):c.326A>G (p.Asp109Gly)
NM_001010867.4(IBA57):c.335T>A (p.Leu112Ter) rs775646159
NM_001010867.4(IBA57):c.339C>T (p.Tyr113=)
NM_001010867.4(IBA57):c.33T>A (p.Thr11=)
NM_001010867.4(IBA57):c.341+1G>A rs1250537283
NM_001010867.4(IBA57):c.341+1G>T rs1250537283
NM_001010867.4(IBA57):c.341+20G>A
NM_001010867.4(IBA57):c.341+2T>G
NM_001010867.4(IBA57):c.341+4A>C
NM_001010867.4(IBA57):c.342-15C>T
NM_001010867.4(IBA57):c.342-488_361del
NM_001010867.4(IBA57):c.342G>C (p.Gly114=)
NM_001010867.4(IBA57):c.354C>A (p.His118Gln) rs1315886237
NM_001010867.4(IBA57):c.372C>T (p.Phe124=)
NM_001010867.4(IBA57):c.373C>T (p.Leu125Phe)
NM_001010867.4(IBA57):c.376C>T (p.Leu126=)
NM_001010867.4(IBA57):c.384dup (p.Asp129Ter) rs1571918251
NM_001010867.4(IBA57):c.390C>G (p.Ser130Arg)
NM_001010867.4(IBA57):c.399G>A (p.Gln133=)
NM_001010867.4(IBA57):c.39G>A (p.Gly13=)
NM_001010867.4(IBA57):c.402C>A (p.Gly134=)
NM_001010867.4(IBA57):c.420C>G (p.Leu140=) rs555630458
NM_001010867.4(IBA57):c.421_422delinsAG (p.Ala141Arg) rs2124976596
NM_001010867.4(IBA57):c.434T>C (p.Ile145Thr) rs2034983313
NM_001010867.4(IBA57):c.439C>T (p.Arg147Trp)
NM_001010867.4(IBA57):c.454G>T (p.Glu152Ter)
NM_001010867.4(IBA57):c.459G>A (p.Pro153=)
NM_001010867.4(IBA57):c.465G>C (p.Pro155=)
NM_001010867.4(IBA57):c.480_481dup (p.Ala161fs)
NM_001010867.4(IBA57):c.483G>T (p.Ala161=)
NM_001010867.4(IBA57):c.488T>C (p.Leu163Ser) rs2124976694
NM_001010867.4(IBA57):c.493A>G (p.Ser165Gly)
NM_001010867.4(IBA57):c.494G>A (p.Ser165Asn)
NM_001010867.4(IBA57):c.506C>T (p.Ala169Val)
NM_001010867.4(IBA57):c.511G>A (p.Gly171Arg)
NM_001010867.4(IBA57):c.522G>A (p.Ser174=)
NM_001010867.4(IBA57):c.535G>T (p.Ala179Ser)
NM_001010867.4(IBA57):c.537A>C (p.Ala179=)
NM_001010867.4(IBA57):c.54C>T (p.Val18=)
NM_001010867.4(IBA57):c.567G>T (p.Pro189=) rs764091126
NM_001010867.4(IBA57):c.585G>A (p.Gly195=) rs2124976810
NM_001010867.4(IBA57):c.594C>T (p.Leu198=)
NM_001010867.4(IBA57):c.599C>G (p.Thr200Ser) rs149136930
NM_001010867.4(IBA57):c.612C>G (p.Gly204=)
NM_001010867.4(IBA57):c.640G>A (p.Gly214Arg)
NM_001010867.4(IBA57):c.664C>G (p.His222Asp) rs1131691510
NM_001010867.4(IBA57):c.668G>A (p.Arg223Gln)
NM_001010867.4(IBA57):c.680-11A>G
NM_001010867.4(IBA57):c.680-15del
NM_001010867.4(IBA57):c.680-16C>A
NM_001010867.4(IBA57):c.680-18C>G
NM_001010867.4(IBA57):c.680-6C>T
NM_001010867.4(IBA57):c.682G>C (p.Val228Leu) rs777266229
NM_001010867.4(IBA57):c.693G>A (p.Gly231=)
NM_001010867.4(IBA57):c.696C>A (p.Val232=)
NM_001010867.4(IBA57):c.720C>T (p.Ala240=)
NM_001010867.4(IBA57):c.737A>G (p.Asn246Ser)
NM_001010867.4(IBA57):c.739C>T (p.Leu247=)
NM_001010867.4(IBA57):c.74_75del (p.Ala25fs)
NM_001010867.4(IBA57):c.753C>T (p.Asn251=)
NM_001010867.4(IBA57):c.768C>T (p.Thr256=) rs760717161
NM_001010867.4(IBA57):c.781A>C (p.Ile261Leu)
NM_001010867.4(IBA57):c.790G>A (p.Glu264Lys)
NM_001010867.4(IBA57):c.79C>A (p.Pro27Thr)
NM_001010867.4(IBA57):c.802C>T (p.Arg268Cys) rs1332185635
NM_001010867.4(IBA57):c.814A>G (p.Met272Val)
NM_001010867.4(IBA57):c.825C>T (p.Ile275=)
NM_001010867.4(IBA57):c.82A>G (p.Arg28Gly)
NM_001010867.4(IBA57):c.84G>A (p.Arg28=)
NM_001010867.4(IBA57):c.851T>C (p.Phe284Ser)
NM_001010867.4(IBA57):c.893C>T (p.Thr298Met) rs375395876
NM_001010867.4(IBA57):c.89G>A (p.Arg30His) rs2034841698
NM_001010867.4(IBA57):c.906C>G (p.Ala302=)
NM_001010867.4(IBA57):c.913C>T (p.Gln305Ter)
NM_001010867.4(IBA57):c.932G>C (p.Arg311Thr) rs1377813001
NM_001010867.4(IBA57):c.935del (p.Ala312fs)
NM_001010867.4(IBA57):c.948C>T (p.Asn316=)
NM_001010867.4(IBA57):c.94G>A (p.Ala32Thr)
NM_001010867.4(IBA57):c.961C>T (p.Leu321=) rs376206530
NM_001010867.4(IBA57):c.970T>G (p.Ser324Ala)
NM_001010867.4(IBA57):c.979A>T (p.Ile327Phe)
NM_001010867.4(IBA57):c.987T>G (p.Gly329=)
NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg) rs918873125
NM_001031726.3(C19orf12):c.199dup rs398122409
NM_001166114.2(PNPLA6):c.1005+14G>C
NM_001166114.2(PNPLA6):c.1005+15G>A rs2146055558
NM_001166114.2(PNPLA6):c.1005+17G>C rs2146055581
NM_001166114.2(PNPLA6):c.1005+1G>T rs772913881
NM_001166114.2(PNPLA6):c.1006-15G>A rs1224962546
NM_001166114.2(PNPLA6):c.1006-19A>G
NM_001166114.2(PNPLA6):c.1006-20A>T rs2146055827
NM_001166114.2(PNPLA6):c.1010T>A (p.Ile337Asn)
NM_001166114.2(PNPLA6):c.1016C>A (p.Pro339His)
NM_001166114.2(PNPLA6):c.1020G>T (p.Leu340=)
NM_001166114.2(PNPLA6):c.1022G>C (p.Arg341Pro) rs745677326
NM_001166114.2(PNPLA6):c.1022G>T (p.Arg341Leu) rs745677326
NM_001166114.2(PNPLA6):c.1030C>T (p.Pro344Ser) rs2146056016
NM_001166114.2(PNPLA6):c.1048A>C (p.Thr350Pro)
NM_001166114.2(PNPLA6):c.1049C>T (p.Thr350Ile)
NM_001166114.2(PNPLA6):c.1054A>C (p.Thr352Pro) rs751885710
NM_001166114.2(PNPLA6):c.1059C>T (p.Ser353=) rs374546823
NM_001166114.2(PNPLA6):c.1061C>G (p.Pro354Arg)
NM_001166114.2(PNPLA6):c.1104C>G (p.Asp368Glu) rs1490230776
NM_001166114.2(PNPLA6):c.1109C>A (p.Pro370His) rs200897068
NM_001166114.2(PNPLA6):c.1119C>T (p.Thr373=)
NM_001166114.2(PNPLA6):c.1122A>T (p.Pro374=) rs964715857
NM_001166114.2(PNPLA6):c.1125G>C (p.Gly375=) rs1157365527
NM_001166114.2(PNPLA6):c.1126C>T (p.Arg376Trp) rs780122556
NM_001166114.2(PNPLA6):c.1129C>A (p.Pro377Thr)
NM_001166114.2(PNPLA6):c.1151C>T (p.Pro384Leu)
NM_001166114.2(PNPLA6):c.1152G>A (p.Pro384=)
NM_001166114.2(PNPLA6):c.1152G>C (p.Pro384=) rs538277794
NM_001166114.2(PNPLA6):c.1168+10G>A
NM_001166114.2(PNPLA6):c.1168+14C>G
NM_001166114.2(PNPLA6):c.1168+14C>T
NM_001166114.2(PNPLA6):c.1168+1G>C
NM_001166114.2(PNPLA6):c.1168+20C>A
NM_001166114.2(PNPLA6):c.1168+8G>A
NM_001166114.2(PNPLA6):c.1169-12T>G
NM_001166114.2(PNPLA6):c.1199C>A (p.Thr400Asn)
NM_001166114.2(PNPLA6):c.1211dup (p.Leu405fs) rs765307463
NM_001166114.2(PNPLA6):c.1229dup (p.Ser411fs) rs2146058319
NM_001166114.2(PNPLA6):c.1234A>C (p.Met412Leu)
NM_001166114.2(PNPLA6):c.1237C>T (p.Pro413Ser)
NM_001166114.2(PNPLA6):c.1246A>C (p.Ile416Leu)
NM_001166114.2(PNPLA6):c.1252+19G>T
NM_001166114.2(PNPLA6):c.1252+8G>A
NM_001166114.2(PNPLA6):c.1253-14del rs1318985494
NM_001166114.2(PNPLA6):c.1253-15C>T
NM_001166114.2(PNPLA6):c.1253-16C>T rs2146060047
NM_001166114.2(PNPLA6):c.1253-18C>T
NM_001166114.2(PNPLA6):c.1253-19C>G
NM_001166114.2(PNPLA6):c.1253-3C>A
NM_001166114.2(PNPLA6):c.1268C>G (p.Pro423Arg) rs1245401993
NM_001166114.2(PNPLA6):c.1282G>A (p.Asp428Asn)
NM_001166114.2(PNPLA6):c.1290C>G (p.Ala430=)
NM_001166114.2(PNPLA6):c.1292A>G (p.Tyr431Cys) rs373050796
NM_001166114.2(PNPLA6):c.1298G>A (p.Arg433His)
NM_001166114.2(PNPLA6):c.1302C>T (p.Gly434=)
NM_001166114.2(PNPLA6):c.130C>T (p.Pro44Ser) rs908461148
NM_001166114.2(PNPLA6):c.1311C>T (p.Ser437=)
NM_001166114.2(PNPLA6):c.1312G>T (p.Val438Leu) rs752915572
NM_001166114.2(PNPLA6):c.1321C>T (p.Gln441Ter) rs2023204790
NM_001166114.2(PNPLA6):c.1331C>A (p.Ala444Asp) rs1599277847
NM_001166114.2(PNPLA6):c.1335C>G (p.Ser445=)
NM_001166114.2(PNPLA6):c.1339G>A (p.Gly447Arg) rs373883256
NM_001166114.2(PNPLA6):c.1339G>T (p.Gly447Trp) rs373883256
NM_001166114.2(PNPLA6):c.1341G>A (p.Gly447=) rs775254099
NM_001166114.2(PNPLA6):c.1356C>T (p.Pro452=) rs776524852
NM_001166114.2(PNPLA6):c.1362+17T>A
NM_001166114.2(PNPLA6):c.1363-10C>T rs762897981
NM_001166114.2(PNPLA6):c.1363-13C>G
NM_001166114.2(PNPLA6):c.1363-14C>T
NM_001166114.2(PNPLA6):c.1363-7C>G rs767541631
NM_001166114.2(PNPLA6):c.1365C>A (p.Thr455=)
NM_001166114.2(PNPLA6):c.1366C>T (p.Pro456Ser)
NM_001166114.2(PNPLA6):c.1369A>G (p.Thr457Ala) rs2023214810
NM_001166114.2(PNPLA6):c.136G>T (p.Val46Phe)
NM_001166114.2(PNPLA6):c.1372C>T (p.Gln458Ter)
NM_001166114.2(PNPLA6):c.1379_1381del (p.Pro460del) rs762850838
NM_001166114.2(PNPLA6):c.138C>T (p.Val46=)
NM_001166114.2(PNPLA6):c.1401C>G (p.Ala467=)
NM_001166114.2(PNPLA6):c.140C>T (p.Pro47Leu)
NM_001166114.2(PNPLA6):c.1427A>G (p.Glu476Gly) rs1242705662
NM_001166114.2(PNPLA6):c.1428G>A (p.Glu476=)
NM_001166114.2(PNPLA6):c.1428G>C (p.Glu476Asp) rs1555745911
NM_001166114.2(PNPLA6):c.1429T>G (p.Ser477Ala) rs2023217607
NM_001166114.2(PNPLA6):c.1431G>A (p.Ser477=)
NM_001166114.2(PNPLA6):c.1438G>C (p.Gly480Arg) rs2146061174
NM_001166114.2(PNPLA6):c.1448C>T (p.Pro483Leu) rs937353646
NM_001166114.2(PNPLA6):c.1452C>T (p.Phe484=)
NM_001166114.2(PNPLA6):c.1463A>T (p.Gln488Leu) rs2023219350
NM_001166114.2(PNPLA6):c.1468C>T (p.Arg490Cys) rs1458269938
NM_001166114.2(PNPLA6):c.1481G>C (p.Ser494Thr)
NM_001166114.2(PNPLA6):c.1489G>C (p.Glu497Gln) rs372128647
NM_001166114.2(PNPLA6):c.1497A>G (p.Ala499=) rs2146061450
NM_001166114.2(PNPLA6):c.1522C>T (p.Arg508Trp) rs777484615
NM_001166114.2(PNPLA6):c.1524G>T (p.Arg508=) rs2146061516
NM_001166114.2(PNPLA6):c.1530+10C>T
NM_001166114.2(PNPLA6):c.1531-10_1537dup rs770365418
NM_001166114.2(PNPLA6):c.1531-17C>A
NM_001166114.2(PNPLA6):c.1531-17C>T rs199515082
NM_001166114.2(PNPLA6):c.1531-3C>T rs2023226974
NM_001166114.2(PNPLA6):c.1544T>C (p.Leu515Pro)
NM_001166114.2(PNPLA6):c.1545G>A (p.Leu515=) rs958794349
NM_001166114.2(PNPLA6):c.154G>A (p.Val52Met)
NM_001166114.2(PNPLA6):c.156G>T (p.Val52=)
NM_001166114.2(PNPLA6):c.1584C>T (p.Thr528=) rs2146062147
NM_001166114.2(PNPLA6):c.1585A>G (p.Ile529Val) rs756934322
NM_001166114.2(PNPLA6):c.1606C>T (p.Gln536Ter) rs1416173690
NM_001166114.2(PNPLA6):c.1608+11C>A rs368627125
NM_001166114.2(PNPLA6):c.1608+11C>T rs368627125
NM_001166114.2(PNPLA6):c.1608+13_1608+19del rs1456240555
NM_001166114.2(PNPLA6):c.1608+17_1608+18inv
NM_001166114.2(PNPLA6):c.1608+18C>G rs568133745
NM_001166114.2(PNPLA6):c.1608+2T>C rs2023231095
NM_001166114.2(PNPLA6):c.1608+3G>T
NM_001166114.2(PNPLA6):c.1608+5G>A
NM_001166114.2(PNPLA6):c.1609-13C>G
NM_001166114.2(PNPLA6):c.1609-14C>T rs1394275867
NM_001166114.2(PNPLA6):c.1609-4A>C rs2146086386
NM_001166114.2(PNPLA6):c.1614G>A (p.Val538=)
NM_001166114.2(PNPLA6):c.1632C>T (p.Leu544=)
NM_001166114.2(PNPLA6):c.1638C>T (p.Gly546=) rs2146086468
NM_001166114.2(PNPLA6):c.163_186dup (p.Gly55_Val62dup) rs753682780
NM_001166114.2(PNPLA6):c.166G>T (p.Ala56Ser)
NM_001166114.2(PNPLA6):c.1673C>A (p.Ala558Glu) rs1473620669
NM_001166114.2(PNPLA6):c.1678G>A (p.Asp560Asn) rs1568415448
NM_001166114.2(PNPLA6):c.1678G>T (p.Asp560Tyr)
NM_001166114.2(PNPLA6):c.1681G>A (p.Val561Met)
NM_001166114.2(PNPLA6):c.1684_1685del (p.Cys562fs) rs1395700335
NM_001166114.2(PNPLA6):c.1687C>T (p.Leu563=) rs2146086630
NM_001166114.2(PNPLA6):c.1692dup (p.Val565fs) rs2023573141
NM_001166114.2(PNPLA6):c.1693G>A (p.Val565Ile) rs777182371
NM_001166114.2(PNPLA6):c.1695A>T (p.Val565=)
NM_001166114.2(PNPLA6):c.169G>C (p.Gly57Arg) rs867376735
NM_001166114.2(PNPLA6):c.1702C>G (p.Pro568Ala) rs2023573612
NM_001166114.2(PNPLA6):c.1704C>T (p.Pro568=) rs62111288
NM_001166114.2(PNPLA6):c.1705G>A (p.Gly569Arg)
NM_001166114.2(PNPLA6):c.1720C>T (p.Gln574Ter)
NM_001166114.2(PNPLA6):c.1746_1748del (p.Leu583del)
NM_001166114.2(PNPLA6):c.1749C>T (p.Leu583=) rs2046990440
NM_001166114.2(PNPLA6):c.1751del (p.Ile584fs)
NM_001166114.2(PNPLA6):c.1770A>G (p.Gln590=) rs780340075
NM_001166114.2(PNPLA6):c.1773C>A (p.Arg591=) rs769077760
NM_001166114.2(PNPLA6):c.1773C>T (p.Arg591=) rs769077760
NM_001166114.2(PNPLA6):c.1806C>T (p.Asp602=)
NM_001166114.2(PNPLA6):c.1814+12C>G
NM_001166114.2(PNPLA6):c.1814+13G>T
NM_001166114.2(PNPLA6):c.1814+9G>A rs780227432
NM_001166114.2(PNPLA6):c.1815-16A>C
NM_001166114.2(PNPLA6):c.1815-19C>T
NM_001166114.2(PNPLA6):c.1815-6C>A
NM_001166114.2(PNPLA6):c.1815-6del
NM_001166114.2(PNPLA6):c.1824C>T (p.Arg608=) rs759282932
NM_001166114.2(PNPLA6):c.1831C>T (p.Pro611Ser) rs775359901
NM_001166114.2(PNPLA6):c.1867G>A (p.Ala623Thr) rs2146087711
NM_001166114.2(PNPLA6):c.1879C>A (p.Pro627Thr) rs781473840
NM_001166114.2(PNPLA6):c.1888C>T (p.Arg630Cys)
NM_001166114.2(PNPLA6):c.188C>T (p.Thr63Met)
NM_001166114.2(PNPLA6):c.1899C>T (p.Asp633=)
NM_001166114.2(PNPLA6):c.1913G>A (p.Trp638Ter)
NM_001166114.2(PNPLA6):c.1927G>C (p.Ala643Pro)
NM_001166114.2(PNPLA6):c.192C>G (p.Ala64=)
NM_001166114.2(PNPLA6):c.193G>A (p.Val65Met)
NM_001166114.2(PNPLA6):c.1946+11C>T
NM_001166114.2(PNPLA6):c.1946+12A>G
NM_001166114.2(PNPLA6):c.1946+13C>T
NM_001166114.2(PNPLA6):c.1946+16C>T rs2146087993
NM_001166114.2(PNPLA6):c.1946+19T>C rs2146088015
NM_001166114.2(PNPLA6):c.1946+2T>G
NM_001166114.2(PNPLA6):c.1946+8T>C
NM_001166114.2(PNPLA6):c.1947-10G>A
NM_001166114.2(PNPLA6):c.1947-13C>T
NM_001166114.2(PNPLA6):c.1947-17C>T
NM_001166114.2(PNPLA6):c.1947-6A>C rs752932750
NM_001166114.2(PNPLA6):c.1947-6A>G rs752932750
NM_001166114.2(PNPLA6):c.1947-7C>T rs1219660248
NM_001166114.2(PNPLA6):c.1947-9C>T
NM_001166114.2(PNPLA6):c.1962C>G (p.Ser654=) rs757870828
NM_001166114.2(PNPLA6):c.1963G>A (p.Asp655Asn) rs2023598411
NM_001166114.2(PNPLA6):c.1968C>A (p.Cys656Ter)
NM_001166114.2(PNPLA6):c.1969A>T (p.Thr657Ser)
NM_001166114.2(PNPLA6):c.197T>G (p.Leu66Arg) rs2146037449
NM_001166114.2(PNPLA6):c.1982T>G (p.Leu661Arg) rs2023598783
NM_001166114.2(PNPLA6):c.1986T>A (p.Asn662Lys) rs1568416066
NM_001166114.2(PNPLA6):c.2013A>G (p.Arg671=)
NM_001166114.2(PNPLA6):c.2015G>C (p.Gly672Ala)
NM_001166114.2(PNPLA6):c.202C>T (p.Leu68Phe) rs2022847854
NM_001166114.2(PNPLA6):c.2043G>A (p.Glu681=) rs1338272029
NM_001166114.2(PNPLA6):c.2046C>A (p.Tyr682Ter) rs768438032
NM_001166114.2(PNPLA6):c.2058C>T (p.Asp686=)
NM_001166114.2(PNPLA6):c.2070+11C>T
NM_001166114.2(PNPLA6):c.2070+7G>A rs2146088587
NM_001166114.2(PNPLA6):c.2070+8C>G rs2146088599
NM_001166114.2(PNPLA6):c.2070+9G>C rs752908818
NM_001166114.2(PNPLA6):c.2071-12G>A
NM_001166114.2(PNPLA6):c.2071-16G>A
NM_001166114.2(PNPLA6):c.2071-3del rs1568416371
NM_001166114.2(PNPLA6):c.2076G>A (p.Glu692=) rs2146089764
NM_001166114.2(PNPLA6):c.207G>A (p.Leu69=)
NM_001166114.2(PNPLA6):c.2086C>T (p.Arg696Trp) rs1252365178
NM_001166114.2(PNPLA6):c.2098G>C (p.Ala700Pro) rs931291219
NM_001166114.2(PNPLA6):c.2100C>T (p.Ala700=) rs2023620224
NM_001166114.2(PNPLA6):c.2115G>A (p.Ala705=)
NM_001166114.2(PNPLA6):c.2122G>C (p.Asp708His) rs2023621348
NM_001166114.2(PNPLA6):c.2145C>T (p.Pro715=) rs772124781
NM_001166114.2(PNPLA6):c.2149G>A (p.Gly717Ser) rs2146090036
NM_001166114.2(PNPLA6):c.2154C>T (p.Thr718=)
NM_001166114.2(PNPLA6):c.215G>A (p.Arg72Gln)
NM_001166114.2(PNPLA6):c.2170C>A (p.Arg724Ser) rs2146090101
NM_001166114.2(PNPLA6):c.2172C>T (p.Arg724=) rs2023623281
NM_001166114.2(PNPLA6):c.2176T>C (p.Tyr726His)
NM_001166114.2(PNPLA6):c.2178C>T (p.Tyr726=)
NM_001166114.2(PNPLA6):c.2183A>G (p.Gln728Arg)
NM_001166114.2(PNPLA6):c.2184+16G>A
NM_001166114.2(PNPLA6):c.2184+1G>A
NM_001166114.2(PNPLA6):c.2184+20G>A
NM_001166114.2(PNPLA6):c.2184+2T>G
NM_001166114.2(PNPLA6):c.2184+3_2184+4delinsTT
NM_001166114.2(PNPLA6):c.2184+4C>A
NM_001166114.2(PNPLA6):c.2184G>C (p.Gln728His) rs2023623991
NM_001166114.2(PNPLA6):c.2185-1G>T rs606231249
NM_001166114.2(PNPLA6):c.2185-20C>G rs2023642040
NM_001166114.2(PNPLA6):c.2185-6C>T
NM_001166114.2(PNPLA6):c.2185-7C>T
NM_001166114.2(PNPLA6):c.2193C>A (p.Thr731=)
NM_001166114.2(PNPLA6):c.219G>C (p.Arg73Ser)
NM_001166114.2(PNPLA6):c.2204A>G (p.His735Arg) rs2146091516
NM_001166114.2(PNPLA6):c.220C>T (p.Leu74=) rs2146037532
NM_001166114.2(PNPLA6):c.2213G>A (p.Ser738Asn)
NM_001166114.2(PNPLA6):c.2239C>G (p.Gln747Glu) rs2023644797
NM_001166114.2(PNPLA6):c.224G>A (p.Arg75Gln)
NM_001166114.2(PNPLA6):c.2260+14G>A
NM_001166114.2(PNPLA6):c.2260+15G>A
NM_001166114.2(PNPLA6):c.2260+1G>C
NM_001166114.2(PNPLA6):c.2260+6A>C
NM_001166114.2(PNPLA6):c.2260G>C (p.Gly754Arg)
NM_001166114.2(PNPLA6):c.2261-12G>C
NM_001166114.2(PNPLA6):c.2261-13G>A
NM_001166114.2(PNPLA6):c.2272G>A (p.Gly758Ser)
NM_001166114.2(PNPLA6):c.2284C>A (p.His762Asn) rs2146099472
NM_001166114.2(PNPLA6):c.2285_2286dup (p.Ser763fs) rs2146099465
NM_001166114.2(PNPLA6):c.2289G>A (p.Ser763=)
NM_001166114.2(PNPLA6):c.2293C>G (p.Leu765Val) rs1374962353
NM_001166114.2(PNPLA6):c.232+15G>A
NM_001166114.2(PNPLA6):c.232+16G>T
NM_001166114.2(PNPLA6):c.233-11C>G
NM_001166114.2(PNPLA6):c.233-16C>G
NM_001166114.2(PNPLA6):c.233-16C>T
NM_001166114.2(PNPLA6):c.2331C>G (p.Ile777Met)
NM_001166114.2(PNPLA6):c.2343T>C (p.Cys781=)
NM_001166114.2(PNPLA6):c.2349G>A (p.Glu783=)
NM_001166114.2(PNPLA6):c.2356A>G (p.Met786Val) rs2146099595
NM_001166114.2(PNPLA6):c.2373G>A (p.Leu791=)
NM_001166114.2(PNPLA6):c.2386G>T (p.Ala796Ser) rs144206674
NM_001166114.2(PNPLA6):c.2401+10G>C
NM_001166114.2(PNPLA6):c.2401+13del
NM_001166114.2(PNPLA6):c.2402-4del rs1467386153
NM_001166114.2(PNPLA6):c.2405dup (p.Thr803fs) rs1555749683
NM_001166114.2(PNPLA6):c.2406G>A (p.Pro802=)
NM_001166114.2(PNPLA6):c.2406G>T (p.Pro802=) rs779055692
NM_001166114.2(PNPLA6):c.2411T>C (p.Leu804Pro) rs148308965
NM_001166114.2(PNPLA6):c.2415C>T (p.Leu805=) rs535490318
NM_001166114.2(PNPLA6):c.2422A>G (p.Ser808Gly) rs1402183916
NM_001166114.2(PNPLA6):c.2455G>A (p.Ala819Thr) rs2146100619
NM_001166114.2(PNPLA6):c.2456C>T (p.Ala819Val)
NM_001166114.2(PNPLA6):c.2460G>A (p.Leu820=)
NM_001166114.2(PNPLA6):c.2465+12A>C
NM_001166114.2(PNPLA6):c.2466-13del
NM_001166114.2(PNPLA6):c.2466-13dup rs2146101488
NM_001166114.2(PNPLA6):c.2466-17C>T
NM_001166114.2(PNPLA6):c.2466-20C>G
NM_001166114.2(PNPLA6):c.2466-5C>A
NM_001166114.2(PNPLA6):c.246G>A (p.Pro82=) rs1160912108
NM_001166114.2(PNPLA6):c.2475G>A (p.Glu825=)
NM_001166114.2(PNPLA6):c.2518C>T (p.Arg840Cys) rs1599303242
NM_001166114.2(PNPLA6):c.2519G>C (p.Arg840Pro)
NM_001166114.2(PNPLA6):c.2523C>A (p.Ile841=) rs375484169
NM_001166114.2(PNPLA6):c.252C>A (p.Gly84=)
NM_001166114.2(PNPLA6):c.2533C>G (p.Gln845Glu) rs774188638
NM_001166114.2(PNPLA6):c.2533C>T (p.Gln845Ter)
NM_001166114.2(PNPLA6):c.2541C>G (p.Asp847Glu)
NM_001166114.2(PNPLA6):c.2542del (p.Ala848fs)
NM_001166114.2(PNPLA6):c.2555C>T (p.Pro852Leu)
NM_001166114.2(PNPLA6):c.2562C>T (p.Thr854=) rs1215386917
NM_001166114.2(PNPLA6):c.2566C>T (p.Arg856Cys) rs755352257
NM_001166114.2(PNPLA6):c.2571C>T (p.Cys857=) rs2146101890
NM_001166114.2(PNPLA6):c.2575C>A (p.Arg859=)
NM_001166114.2(PNPLA6):c.2583C>T (p.Ala861=)
NM_001166114.2(PNPLA6):c.2586C>T (p.Asp862=)
NM_001166114.2(PNPLA6):c.2587T>C (p.Cys863Arg) rs2146101950
NM_001166114.2(PNPLA6):c.2623A>C (p.Thr875Pro) rs1333226218
NM_001166114.2(PNPLA6):c.2628C>T (p.Leu876=)
NM_001166114.2(PNPLA6):c.2634+12G>A
NM_001166114.2(PNPLA6):c.2634G>A (p.Gln878=)
NM_001166114.2(PNPLA6):c.2635-11G>A rs764568947
NM_001166114.2(PNPLA6):c.2635-12C>T
NM_001166114.2(PNPLA6):c.2635-15G>A
NM_001166114.2(PNPLA6):c.2635-16C>T
NM_001166114.2(PNPLA6):c.2635-4G>A
NM_001166114.2(PNPLA6):c.264G>A (p.Arg88=)
NM_001166114.2(PNPLA6):c.2664G>A (p.Val888=)
NM_001166114.2(PNPLA6):c.266del (p.Phe89fs) rs2022862975
NM_001166114.2(PNPLA6):c.267C>T (p.Phe89=) rs2146038207
NM_001166114.2(PNPLA6):c.2680C>G (p.Leu894Val) rs2146102825
NM_001166114.2(PNPLA6):c.2685C>T (p.Val895=) rs1431448444
NM_001166114.2(PNPLA6):c.2688G>C (p.Leu896=) rs779565587
NM_001166114.2(PNPLA6):c.2707G>A (p.Ala903Thr)
NM_001166114.2(PNPLA6):c.2708C>T (p.Ala903Val) rs1319203305
NM_001166114.2(PNPLA6):c.2711G>T (p.Gly904Val)
NM_001166114.2(PNPLA6):c.2714C>T (p.Pro905Leu) rs1301640279
NM_001166114.2(PNPLA6):c.2715C>G (p.Pro905=) rs547174697
NM_001166114.2(PNPLA6):c.2718G>C (p.Thr906=) rs372391232
NM_001166114.2(PNPLA6):c.2746A>G (p.Ser916Gly) rs2023809980
NM_001166114.2(PNPLA6):c.2760G>T (p.Gly920=)
NM_001166114.2(PNPLA6):c.2774G>A (p.Arg925His)
NM_001166114.2(PNPLA6):c.2775C>T (p.Arg925=) rs2023810985
NM_001166114.2(PNPLA6):c.2782C>T (p.Arg928Cys) rs765924753
NM_001166114.2(PNPLA6):c.2787_2800dup (p.Arg934fs)
NM_001166114.2(PNPLA6):c.2794T>C (p.Ser932Pro)
NM_001166114.2(PNPLA6):c.2797C>T (p.Arg933Cys)
NM_001166114.2(PNPLA6):c.2799C>T (p.Arg933=)
NM_001166114.2(PNPLA6):c.2809_2810delinsAA (p.Ala937Asn)
NM_001166114.2(PNPLA6):c.2817+13C>G
NM_001166114.2(PNPLA6):c.2817+14C>T rs752461935
NM_001166114.2(PNPLA6):c.2817+15G>T rs1330741916
NM_001166114.2(PNPLA6):c.2817+16G>A rs2146103325
NM_001166114.2(PNPLA6):c.2817+16del
NM_001166114.2(PNPLA6):c.2817+19C>T
NM_001166114.2(PNPLA6):c.2817+21del
NM_001166114.2(PNPLA6):c.2817+8G>A
NM_001166114.2(PNPLA6):c.2818-12C>A
NM_001166114.2(PNPLA6):c.2818-16A>C rs2023822747
NM_001166114.2(PNPLA6):c.2818-20_2818-19delinsCG
NM_001166114.2(PNPLA6):c.2833A>G (p.Lys945Glu) rs958813626
NM_001166114.2(PNPLA6):c.2839_2840dup (p.Arg949fs) rs1168679768
NM_001166114.2(PNPLA6):c.2843C>T (p.Ser948Phe)
NM_001166114.2(PNPLA6):c.2850C>A (p.Arg950=)
NM_001166114.2(PNPLA6):c.2855A>G (p.Asp952Gly) rs2023826142
NM_001166114.2(PNPLA6):c.2877C>T (p.Arg959=) rs1479075714
NM_001166114.2(PNPLA6):c.2886G>T (p.Arg962Ser)
NM_001166114.2(PNPLA6):c.2908G>A (p.Ala970Thr) rs2023828884
NM_001166114.2(PNPLA6):c.2910C>T (p.Ala970=)
NM_001166114.2(PNPLA6):c.2913T>G (p.Leu971=) rs1599305283
NM_001166114.2(PNPLA6):c.2921G>T (p.Gly974Val) rs2023829631
NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu) rs1599305317
NM_001166114.2(PNPLA6):c.2928C>A (p.Gly976=)
NM_001166114.2(PNPLA6):c.2929G>A (p.Gly977Arg) rs1161640444
NM_001166114.2(PNPLA6):c.2930G>C (p.Gly977Ala)
NM_001166114.2(PNPLA6):c.2934_2936+13del rs1167314561
NM_001166114.2(PNPLA6):c.2934_2936+13dup
NM_001166114.2(PNPLA6):c.2936+12G>A
NM_001166114.2(PNPLA6):c.2936+14_2936+33del
NM_001166114.2(PNPLA6):c.2936+16G>A
NM_001166114.2(PNPLA6):c.2936+16G>C rs2023831779
NM_001166114.2(PNPLA6):c.2936+19C>T
NM_001166114.2(PNPLA6):c.2936+2T>C
NM_001166114.2(PNPLA6):c.2936+4A>G
NM_001166114.2(PNPLA6):c.2936+4A>T
NM_001166114.2(PNPLA6):c.2936+8C>T
NM_001166114.2(PNPLA6):c.2936+9G>A rs1599305430
NM_001166114.2(PNPLA6):c.2937-13A>G
NM_001166114.2(PNPLA6):c.2937-13A>T rs2146105279
NM_001166114.2(PNPLA6):c.2937-3C>T
NM_001166114.2(PNPLA6):c.2937-4G>A rs1178206789
NM_001166114.2(PNPLA6):c.2937-5G>A rs776211274
NM_001166114.2(PNPLA6):c.2937-7C>T
NM_001166114.2(PNPLA6):c.2946G>A (p.Ser982=)
NM_001166114.2(PNPLA6):c.2952C>A (p.Ile984=) rs767654280
NM_001166114.2(PNPLA6):c.2953G>C (p.Gly985Arg)
NM_001166114.2(PNPLA6):c.2964G>A (p.Lys988=)
NM_001166114.2(PNPLA6):c.2991G>C (p.Val997=)
NM_001166114.2(PNPLA6):c.3004G>C (p.Gly1002Arg) rs772547801
NM_001166114.2(PNPLA6):c.3013A>T (p.Ile1005Phe) rs1335354975
NM_001166114.2(PNPLA6):c.3016G>A (p.Gly1006Ser)
NM_001166114.2(PNPLA6):c.3028G>A (p.Gly1010Arg) rs768107851
NM_001166114.2(PNPLA6):c.3041C>T (p.Ala1014Val)
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001166114.2(PNPLA6):c.3063C>T (p.Arg1021=)
NM_001166114.2(PNPLA6):c.306T>A (p.Ile102=) rs554346890
NM_001166114.2(PNPLA6):c.3077C>T (p.Ala1026Val)
NM_001166114.2(PNPLA6):c.3093+11C>T rs376813156
NM_001166114.2(PNPLA6):c.3093+17G>A
NM_001166114.2(PNPLA6):c.3093+19G>T
NM_001166114.2(PNPLA6):c.3093+6T>C rs1487510973
NM_001166114.2(PNPLA6):c.3094-11C>T
NM_001166114.2(PNPLA6):c.3094-11dup rs2146107854
NM_001166114.2(PNPLA6):c.3094-4C>T rs770724357
NM_001166114.2(PNPLA6):c.3094-6C>A rs202063739
NM_001166114.2(PNPLA6):c.3100A>G (p.Thr1034Ala)
NM_001166114.2(PNPLA6):c.3102T>C (p.Thr1034=)
NM_001166114.2(PNPLA6):c.3104C>A (p.Ser1035Ter)
NM_001166114.2(PNPLA6):c.3105G>T (p.Ser1035=) rs779667737
NM_001166114.2(PNPLA6):c.3112G>A (p.Glu1038Lys)
NM_001166114.2(PNPLA6):c.3143C>T (p.Thr1048Ile) rs587777181
NM_001166114.2(PNPLA6):c.3147C>T (p.Ser1049=) rs2146108058
NM_001166114.2(PNPLA6):c.315+13C>G
NM_001166114.2(PNPLA6):c.315+16C>T rs2146038392
NM_001166114.2(PNPLA6):c.315+1G>T
NM_001166114.2(PNPLA6):c.3152T>A (p.Phe1051Tyr) rs755407437
NM_001166114.2(PNPLA6):c.3153C>T (p.Phe1051=) rs2146108088
NM_001166114.2(PNPLA6):c.316-10_316-7dup rs758551500
NM_001166114.2(PNPLA6):c.316-12_316-11delinsAT rs2146038902
NM_001166114.2(PNPLA6):c.316-14C>T
NM_001166114.2(PNPLA6):c.316-16G>A
NM_001166114.2(PNPLA6):c.316-17C>T
NM_001166114.2(PNPLA6):c.3177C>T (p.Ser1059=) rs2023886520
NM_001166114.2(PNPLA6):c.3210+16C>T rs2146108294
NM_001166114.2(PNPLA6):c.3210+17C>T
NM_001166114.2(PNPLA6):c.3210+19C>T
NM_001166114.2(PNPLA6):c.3210+8C>T
NM_001166114.2(PNPLA6):c.3211-11T>C
NM_001166114.2(PNPLA6):c.3211-12del rs2146108627
NM_001166114.2(PNPLA6):c.3211-16A>T rs948743187
NM_001166114.2(PNPLA6):c.3211-17G>A
NM_001166114.2(PNPLA6):c.3211-20C>T
NM_001166114.2(PNPLA6):c.3211-4G>T
NM_001166114.2(PNPLA6):c.3237G>A (p.Val1079=)
NM_001166114.2(PNPLA6):c.3255C>T (p.Ala1085=) rs1274449529
NM_001166114.2(PNPLA6):c.3265C>T (p.Arg1089Ter) rs562113164
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln) rs786201037
NM_001166114.2(PNPLA6):c.3270C>T (p.Val1090=)
NM_001166114.2(PNPLA6):c.3276A>G (p.Lys1092=) rs2146108820
NM_001166114.2(PNPLA6):c.327C>A (p.Ser109=) rs2146038949
NM_001166114.2(PNPLA6):c.3280+13G>A
NM_001166114.2(PNPLA6):c.3281-3C>T rs2023917516
NM_001166114.2(PNPLA6):c.3281-5C>G rs370676290
NM_001166114.2(PNPLA6):c.3281-5C>T rs370676290
NM_001166114.2(PNPLA6):c.3281G>A (p.Gly1094Asp)
NM_001166114.2(PNPLA6):c.3292C>T (p.Arg1098Trp)
NM_001166114.2(PNPLA6):c.3296A>G (p.Tyr1099Cys) rs2146110600
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met) rs587777182
NM_001166114.2(PNPLA6):c.3301C>T (p.Arg1101Cys) rs2146110637
NM_001166114.2(PNPLA6):c.3309C>T (p.Ser1103=)
NM_001166114.2(PNPLA6):c.3310A>G (p.Met1104Val) rs1176866323
NM_001166114.2(PNPLA6):c.331TCC[1] (p.Ser112del)
NM_001166114.2(PNPLA6):c.3323G>T (p.Gly1108Val)
NM_001166114.2(PNPLA6):c.3335C>A (p.Pro1112Gln) rs748506175
NM_001166114.2(PNPLA6):c.3335C>T (p.Pro1112Leu) rs748506175
NM_001166114.2(PNPLA6):c.3336G>A (p.Pro1112=)
NM_001166114.2(PNPLA6):c.3337C>A (p.Leu1113Met) rs1210970179
NM_001166114.2(PNPLA6):c.3349A>G (p.Lys1117Glu) rs2146110782
NM_001166114.2(PNPLA6):c.334T>A (p.Ser112Thr) rs1193422027
NM_001166114.2(PNPLA6):c.3355G>C (p.Gly1119Arg) rs773955314
NM_001166114.2(PNPLA6):c.3361del (p.Leu1121fs) rs766796997
NM_001166114.2(PNPLA6):c.3390T>G (p.Asn1130Lys)
NM_001166114.2(PNPLA6):c.3394C>G (p.Pro1132Ala)
NM_001166114.2(PNPLA6):c.3397+11G>A rs370597983
NM_001166114.2(PNPLA6):c.3397+11G>C
NM_001166114.2(PNPLA6):c.3397+14C>G
NM_001166114.2(PNPLA6):c.3397+14C>T
NM_001166114.2(PNPLA6):c.3397+15G>A
NM_001166114.2(PNPLA6):c.3398-12del rs780867273
NM_001166114.2(PNPLA6):c.3398-19G>C
NM_001166114.2(PNPLA6):c.3398-7C>A
NM_001166114.2(PNPLA6):c.3398C>T (p.Ala1133Val) rs1361220718
NM_001166114.2(PNPLA6):c.339C>T (p.Leu113=)
NM_001166114.2(PNPLA6):c.3405C>A (p.Ile1135=) rs371848168
NM_001166114.2(PNPLA6):c.3405C>T (p.Ile1135=) rs371848168
NM_001166114.2(PNPLA6):c.3406G>A (p.Ala1136Thr) rs765257753
NM_001166114.2(PNPLA6):c.3414C>T (p.Ser1138=)
NM_001166114.2(PNPLA6):c.3417G>A (p.Met1139Ile)
NM_001166114.2(PNPLA6):c.3429G>A (p.Thr1143=) rs373083668
NM_001166114.2(PNPLA6):c.3436G>A (p.Ala1146Thr)
NM_001166114.2(PNPLA6):c.3444C>T (p.Asp1148=)
NM_001166114.2(PNPLA6):c.3458A>G (p.Asp1153Gly) rs1333307739
NM_001166114.2(PNPLA6):c.3461A>G (p.Glu1154Gly) rs1176067979
NM_001166114.2(PNPLA6):c.3464C>T (p.Thr1155Met) rs1404148214
NM_001166114.2(PNPLA6):c.3465G>A (p.Thr1155=)
NM_001166114.2(PNPLA6):c.3473G>A (p.Ser1158Asn)
NM_001166114.2(PNPLA6):c.347C>T (p.Thr116Ile) rs769226316
NM_001166114.2(PNPLA6):c.3483G>A (p.Gly1161=)
NM_001166114.2(PNPLA6):c.3484G>T (p.Asp1162Tyr) rs2023998335
NM_001166114.2(PNPLA6):c.3489C>G (p.Ser1163Arg)
NM_001166114.2(PNPLA6):c.3492G>C (p.Leu1164=) rs577065342
NM_001166114.2(PNPLA6):c.3503G>A (p.Trp1168Ter) rs1555751597
NM_001166114.2(PNPLA6):c.3507G>T (p.Leu1169=)
NM_001166114.2(PNPLA6):c.3517C>T (p.Arg1173Trp) rs766389806
NM_001166114.2(PNPLA6):c.3526C>T (p.Pro1176Ser)
NM_001166114.2(PNPLA6):c.3531G>C (p.Trp1177Cys) rs150230845
NM_001166114.2(PNPLA6):c.3541G>A (p.Val1181Ile) rs2146116601
NM_001166114.2(PNPLA6):c.3548T>G (p.Val1183Gly) rs757555345
NM_001166114.2(PNPLA6):c.3556A>T (p.Met1186Leu)
NM_001166114.2(PNPLA6):c.3574C>T (p.Arg1192Cys)
NM_001166114.2(PNPLA6):c.3585C>T (p.Tyr1195=)
NM_001166114.2(PNPLA6):c.3587T>C (p.Val1196Ala) rs2146116726
NM_001166114.2(PNPLA6):c.3598C>T (p.Arg1200Trp) rs754590075
NM_001166114.2(PNPLA6):c.3609G>A (p.Glu1203=)
NM_001166114.2(PNPLA6):c.3609G>T (p.Glu1203Asp)
NM_001166114.2(PNPLA6):c.3614T>C (p.Val1205Ala) rs1211079280
NM_001166114.2(PNPLA6):c.3621C>T (p.Ser1207=) rs2146116848
NM_001166114.2(PNPLA6):c.3626C>T (p.Ser1209Phe)
NM_001166114.2(PNPLA6):c.3627C>G (p.Ser1209=) rs1568423844
NM_001166114.2(PNPLA6):c.3643C>T (p.Arg1215Cys)
NM_001166114.2(PNPLA6):c.3644G>A (p.Arg1215His)
NM_001166114.2(PNPLA6):c.365C>G (p.Ser122Cys)
NM_001166114.2(PNPLA6):c.3666G>A (p.Lys1222=)
NM_001166114.2(PNPLA6):c.3668_3669insTT (p.Met1224fs)
NM_001166114.2(PNPLA6):c.366C>T (p.Ser122=)
NM_001166114.2(PNPLA6):c.3681G>A (p.Gly1227=)
NM_001166114.2(PNPLA6):c.3690C>T (p.Asp1230=) rs2146117085
NM_001166114.2(PNPLA6):c.3699+13G>A rs2146117176
NM_001166114.2(PNPLA6):c.3699+18G>T
NM_001166114.2(PNPLA6):c.3699+7G>T
NM_001166114.2(PNPLA6):c.3699+8G>T
NM_001166114.2(PNPLA6):c.3699T>C (p.Tyr1233=) rs2024006172
NM_001166114.2(PNPLA6):c.3700-3C>T rs766686613
NM_001166114.2(PNPLA6):c.3701A>T (p.Asp1234Val) rs778792847
NM_001166114.2(PNPLA6):c.3709T>C (p.Tyr1237His) rs2146121420
NM_001166114.2(PNPLA6):c.3711C>T (p.Tyr1237=)
NM_001166114.2(PNPLA6):c.3712C>A (p.Gln1238Lys) rs143072391
NM_001166114.2(PNPLA6):c.3720G>A (p.Gly1240=)
NM_001166114.2(PNPLA6):c.3723G>C (p.Lys1241Asn) rs1347589242
NM_001166114.2(PNPLA6):c.3725C>T (p.Ala1242Val)
NM_001166114.2(PNPLA6):c.3726G>A (p.Ala1242=) rs146121276
NM_001166114.2(PNPLA6):c.3726G>T (p.Ala1242=)
NM_001166114.2(PNPLA6):c.3768G>C (p.Met1256Ile) rs878854905
NM_001166114.2(PNPLA6):c.376A>C (p.Met126Leu)
NM_001166114.2(PNPLA6):c.3781C>T (p.Arg1261Trp)
NM_001166114.2(PNPLA6):c.3782G>A (p.Arg1261Gln) rs1354670102
NM_001166114.2(PNPLA6):c.3816+8T>C
NM_001166114.2(PNPLA6):c.3817-17C>A rs772520041
NM_001166114.2(PNPLA6):c.381G>A (p.Arg127=) rs759341701
NM_001166114.2(PNPLA6):c.3823G>A (p.Ala1275Thr) rs139102273
NM_001166114.2(PNPLA6):c.3828C>T (p.Phe1276=)
NM_001166114.2(PNPLA6):c.384G>A (p.Lys128=)
NM_001166114.2(PNPLA6):c.3851T>A (p.Leu1284Ter)
NM_001166114.2(PNPLA6):c.3864G>T (p.Val1288=) rs1453431720
NM_001166114.2(PNPLA6):c.3876G>C (p.Glu1292Asp)
NM_001166114.2(PNPLA6):c.3881C>T (p.Pro1294Leu)
NM_001166114.2(PNPLA6):c.3882C>G (p.Pro1294=) rs202070445
NM_001166114.2(PNPLA6):c.3883A>G (p.Thr1295Ala) rs2146122983
NM_001166114.2(PNPLA6):c.3884C>G (p.Thr1295Arg)
NM_001166114.2(PNPLA6):c.3903C>T (p.Gly1301=)
NM_001166114.2(PNPLA6):c.3910G>A (p.Asp1304Asn)
NM_001166114.2(PNPLA6):c.3913+15G>A rs2146123108
NM_001166114.2(PNPLA6):c.3913+17_3913+18del
NM_001166114.2(PNPLA6):c.3913+1G>A
NM_001166114.2(PNPLA6):c.3913+23del rs11307097
NM_001166114.2(PNPLA6):c.3913+23dup rs11307097
NM_001166114.2(PNPLA6):c.3914-12C>G
NM_001166114.2(PNPLA6):c.3917A>G (p.Glu1306Gly)
NM_001166114.2(PNPLA6):c.3925del (p.Asp1309fs) rs1060502664
NM_001166114.2(PNPLA6):c.3938A>C (p.Glu1313Ala) rs2024087885
NM_001166114.2(PNPLA6):c.3951C>G (p.Asp1317Glu)
NM_001166114.2(PNPLA6):c.3952G>A (p.Ala1318Thr)
NM_001166114.2(PNPLA6):c.3958C>A (p.Pro1320Thr)
NM_001166114.2(PNPLA6):c.3960C>T (p.Pro1320=)
NM_001166114.2(PNPLA6):c.3969G>C (p.Ser1323=) rs141360025
NM_001166114.2(PNPLA6):c.3973G>A (p.Asp1325Asn) rs1269084486
NM_001166114.2(PNPLA6):c.3977A>C (p.Glu1326Ala) rs2024089279
NM_001166114.2(PNPLA6):c.3979G>T (p.Gly1327Trp) rs1555752329
NM_001166114.2(PNPLA6):c.3983G>T (p.Gly1328Val)
NM_001166114.2(PNPLA6):c.3984dup (p.Ser1329fs) rs753221489
NM_001166114.2(PNPLA6):c.3990C>A (p.Pro1330=) rs535388759
NM_001166114.2(PNPLA6):c.3998C>A (p.Ala1333Glu) rs1385761016
NM_001166114.2(PNPLA6):c.3999A>C (p.Ala1333=) rs2146123842
NM_001166114.2(PNPLA6):c.4006A>C (p.Ser1336Arg)
NM_001166114.2(PNPLA6):c.401A>C (p.Asn134Thr) rs2022879793
NM_001166114.2(PNPLA6):c.401A>G (p.Asn134Ser)
NM_001166114.2(PNPLA6):c.4023+16C>T
NM_001166114.2(PNPLA6):c.4023+17C>T
NM_001166114.2(PNPLA6):c.4023+7G>A
NM_001166114.2(PNPLA6):c.4024-1G>A
NM_001166114.2(PNPLA6):c.4024-4G>A
NM_001166114.2(PNPLA6):c.4024-5C>T
NM_001166114.2(PNPLA6):c.4024-7C>T
NM_001166114.2(PNPLA6):c.4024-8C>A
NM_001166114.2(PNPLA6):c.4028A>T (p.Glu1343Val) rs2024099174
NM_001166114.2(PNPLA6):c.4032G>A (p.Glu1344=) rs1399231771
NM_001166114.2(PNPLA6):c.4038G>A (p.Ser1346=) rs757676882
NM_001166114.2(PNPLA6):c.4049A>G (p.Gln1350Arg) rs2146124636
NM_001166114.2(PNPLA6):c.4055G>A (p.Arg1352His) rs746687452
NM_001166114.2(PNPLA6):c.4055G>C (p.Arg1352Pro) rs746687452
NM_001166114.2(PNPLA6):c.4055_4056delinsAT (p.Arg1352His) rs2024100609
NM_001166114.2(PNPLA6):c.4060C>G (p.Leu1354Val) rs150392453
NM_001166114.2(PNPLA6):c.4071G>T (p.Glu1357Asp) rs1198155966
NM_001166114.2(PNPLA6):c.4078G>T (p.Gly1360Cys)
NM_001166114.2(PNPLA6):c.4095del (p.Ter1366GluextTer?) rs2024103130
NM_001166114.2(PNPLA6):c.4097G>A (p.Ter1366=)
NM_001166114.2(PNPLA6):c.413+11G>C
NM_001166114.2(PNPLA6):c.413+13T>G
NM_001166114.2(PNPLA6):c.413+1G>A
NM_001166114.2(PNPLA6):c.413+8T>A rs997735081
NM_001166114.2(PNPLA6):c.414-10C>G
NM_001166114.2(PNPLA6):c.414-14T>A rs953147743
NM_001166114.2(PNPLA6):c.414-17C>T
NM_001166114.2(PNPLA6):c.414-4C>A
NM_001166114.2(PNPLA6):c.414-4_414-2del rs771196056
NM_001166114.2(PNPLA6):c.418C>T (p.Leu140=)
NM_001166114.2(PNPLA6):c.421C>T (p.Arg141Cys) rs764125789
NM_001166114.2(PNPLA6):c.438G>A (p.Thr146=)
NM_001166114.2(PNPLA6):c.438G>C (p.Thr146=) rs559066236
NM_001166114.2(PNPLA6):c.441C>T (p.Pro147=)
NM_001166114.2(PNPLA6):c.469G>A (p.Ala157Thr)
NM_001166114.2(PNPLA6):c.469G>T (p.Ala157Ser) rs767940871
NM_001166114.2(PNPLA6):c.475C>T (p.Leu159=)
NM_001166114.2(PNPLA6):c.486C>T (p.Asp162=)
NM_001166114.2(PNPLA6):c.493G>A (p.Glu165Lys) rs1370160653
NM_001166114.2(PNPLA6):c.498C>T (p.Gly166=)
NM_001166114.2(PNPLA6):c.554+12_554+16dup
NM_001166114.2(PNPLA6):c.554+13G>T
NM_001166114.2(PNPLA6):c.554+17A>T rs1170781714
NM_001166114.2(PNPLA6):c.554+7G>T
NM_001166114.2(PNPLA6):c.555-11C>T
NM_001166114.2(PNPLA6):c.555-14C>G
NM_001166114.2(PNPLA6):c.555-14C>T rs772339510
NM_001166114.2(PNPLA6):c.555-3C>T rs764501990
NM_001166114.2(PNPLA6):c.555G>T (p.Arg185=) rs1329932060
NM_001166114.2(PNPLA6):c.579A>C (p.Pro193=) rs762342193
NM_001166114.2(PNPLA6):c.579A>T (p.Pro193=) rs762342193
NM_001166114.2(PNPLA6):c.598C>T (p.Arg200Cys) rs2146050796
NM_001166114.2(PNPLA6):c.609C>T (p.Val203=) rs1599271966
NM_001166114.2(PNPLA6):c.656C>G (p.Pro219Arg) rs1246188701
NM_001166114.2(PNPLA6):c.672C>T (p.Tyr224=)
NM_001166114.2(PNPLA6):c.675G>A (p.Val225=)
NM_001166114.2(PNPLA6):c.678_679delinsAA (p.Gln227Lys) rs2146051181
NM_001166114.2(PNPLA6):c.685G>A (p.Gly229Arg) rs1174515690
NM_001166114.2(PNPLA6):c.690G>C (p.Leu230=)
NM_001166114.2(PNPLA6):c.696G>A (p.Glu232=) rs1334721979
NM_001166114.2(PNPLA6):c.697C>T (p.Leu233Phe)
NM_001166114.2(PNPLA6):c.699C>T (p.Leu233=)
NM_001166114.2(PNPLA6):c.699_700del (p.Cys234fs) rs2146051234
NM_001166114.2(PNPLA6):c.703C>T (p.Leu235=)
NM_001166114.2(PNPLA6):c.706C>T (p.Pro236Ser) rs2023070805
NM_001166114.2(PNPLA6):c.710G>A (p.Gly237Glu) rs765649401
NM_001166114.2(PNPLA6):c.711G>C (p.Gly237=) rs773675660
NM_001166114.2(PNPLA6):c.714+1G>A
NM_001166114.2(PNPLA6):c.714+8G>A
NM_001166114.2(PNPLA6):c.715-13_715-12del
NM_001166114.2(PNPLA6):c.715-16G>T
NM_001166114.2(PNPLA6):c.715-17G>C rs372017403
NM_001166114.2(PNPLA6):c.721A>C (p.Lys241Gln)
NM_001166114.2(PNPLA6):c.741A>G (p.Glu247=) rs773587782
NM_001166114.2(PNPLA6):c.759C>T (p.Ser253=) rs757493256
NM_001166114.2(PNPLA6):c.782T>G (p.Leu261Arg) rs2023091581
NM_001166114.2(PNPLA6):c.786T>C (p.Asp262=)
NM_001166114.2(PNPLA6):c.795+18G>A rs2146052894
NM_001166114.2(PNPLA6):c.796-18C>T
NM_001166114.2(PNPLA6):c.797G>A (p.Gly266Asp) rs2146053653
NM_001166114.2(PNPLA6):c.801C>T (p.His267=)
NM_001166114.2(PNPLA6):c.805C>T (p.His269Tyr)
NM_001166114.2(PNPLA6):c.806A>C (p.His269Pro)
NM_001166114.2(PNPLA6):c.811C>T (p.Gln271Ter)
NM_001166114.2(PNPLA6):c.829C>T (p.Arg277Trp)
NM_001166114.2(PNPLA6):c.833C>G (p.Ala278Gly) rs1433313104
NM_001166114.2(PNPLA6):c.834G>A (p.Ala278=)
NM_001166114.2(PNPLA6):c.836C>T (p.Ala279Val)
NM_001166114.2(PNPLA6):c.839G>A (p.Arg280Gln)
NM_001166114.2(PNPLA6):c.848C>G (p.Thr283Arg) rs772665971
NM_001166114.2(PNPLA6):c.848C>T (p.Thr283Met)
NM_001166114.2(PNPLA6):c.849G>T (p.Thr283=)
NM_001166114.2(PNPLA6):c.852G>A (p.Val284=) rs2146053863
NM_001166114.2(PNPLA6):c.860T>A (p.Leu287Gln)
NM_001166114.2(PNPLA6):c.864G>C (p.Pro288=)
NM_001166114.2(PNPLA6):c.864G>T (p.Pro288=) rs369082833
NM_001166114.2(PNPLA6):c.878C>T (p.Ser293Phe) rs1441967962
NM_001166114.2(PNPLA6):c.882G>A (p.Ala294=) rs2023111489
NM_001166114.2(PNPLA6):c.890C>A (p.Thr297Asn) rs777868937
NM_001166114.2(PNPLA6):c.898C>A (p.Pro300Thr) rs1057518936
NM_001166114.2(PNPLA6):c.899C>T (p.Pro300Leu)
NM_001166114.2(PNPLA6):c.913C>T (p.Arg305Trp) rs866964055
NM_001166114.2(PNPLA6):c.919G>C (p.Val307Leu)
NM_001166114.2(PNPLA6):c.925-12C>A
NM_001166114.2(PNPLA6):c.925-12C>T rs370904772
NM_001166114.2(PNPLA6):c.925-19C>T rs759517233
NM_001166114.2(PNPLA6):c.925-20A>G rs2023129445
NM_001166114.2(PNPLA6):c.930C>T (p.Ile310=)
NM_001166114.2(PNPLA6):c.938G>A (p.Arg313Gln) rs2023131773
NM_001166114.2(PNPLA6):c.939G>T (p.Arg313=)
NM_001166114.2(PNPLA6):c.945G>T (p.Gln315His)
NM_001166114.2(PNPLA6):c.978G>A (p.Leu326=)
NM_001351169.2(NT5C2):c.1002G>T (p.Thr334=)
NM_001351169.2(NT5C2):c.102-4A>G
NM_001351169.2(NT5C2):c.1039T>C (p.Leu347=) rs1419555474
NM_001351169.2(NT5C2):c.1041G>A (p.Leu347=)
NM_001351169.2(NT5C2):c.1090C>G (p.Gln364Glu) rs1590658486
NM_001351169.2(NT5C2):c.1109del (p.Leu370fs)
NM_001351169.2(NT5C2):c.1125C>T (p.Leu375=)
NM_001351169.2(NT5C2):c.1149T>G (p.Thr383=)
NM_001351169.2(NT5C2):c.1153_1154del (p.Lys385fs)
NM_001351169.2(NT5C2):c.1159+16A>G
NM_001351169.2(NT5C2):c.1160-18C>T
NM_001351169.2(NT5C2):c.1160-20T>C
NM_001351169.2(NT5C2):c.1160-4C>T
NM_001351169.2(NT5C2):c.1172A>G (p.Glu391Gly) rs775006132
NM_001351169.2(NT5C2):c.1211+8T>A
NM_001351169.2(NT5C2):c.1212-13_1212-12del
NM_001351169.2(NT5C2):c.1212-13_1212-9del
NM_001351169.2(NT5C2):c.1212-21_1212-19dup
NM_001351169.2(NT5C2):c.1212-8_1212-6dup
NM_001351169.2(NT5C2):c.1236G>A (p.Glu412=)
NM_001351169.2(NT5C2):c.1259A>G (p.Gln420Arg) rs1294333255
NM_001351169.2(NT5C2):c.1272+1G>C rs1430860231
NM_001351169.2(NT5C2):c.1273-4T>C
NM_001351169.2(NT5C2):c.1273-7_1273-4del rs747195167
NM_001351169.2(NT5C2):c.1273-7_1273-4dup rs747195167
NM_001351169.2(NT5C2):c.1273-9_1273-8del
NM_001351169.2(NT5C2):c.1289T>C (p.Met430Thr) rs1433755096
NM_001351169.2(NT5C2):c.1323T>C (p.Phe441=)
NM_001351169.2(NT5C2):c.1353C>T (p.Ala451=) rs954511632
NM_001351169.2(NT5C2):c.1359A>C (p.Gln453His) rs1048621280
NM_001351169.2(NT5C2):c.1367G>A (p.Arg456His)
NM_001351169.2(NT5C2):c.1371T>A (p.Tyr457Ter) rs1419090736
NM_001351169.2(NT5C2):c.1385C>T (p.Ala462Val) rs2134506085
NM_001351169.2(NT5C2):c.139A>G (p.Lys47Glu) rs1565150442
NM_001351169.2(NT5C2):c.1449+13T>A
NM_001351169.2(NT5C2):c.1449+18T>A
NM_001351169.2(NT5C2):c.1450-16G>C
NM_001351169.2(NT5C2):c.1473G>A (p.Glu491=)
NM_001351169.2(NT5C2):c.1482C>T (p.His494=) rs932084884
NM_001351169.2(NT5C2):c.1529C>T (p.Thr510Ile)
NM_001351169.2(NT5C2):c.1572G>A (p.Leu524=)
NM_001351169.2(NT5C2):c.1582A>G (p.Ile528Val)
NM_001351169.2(NT5C2):c.1618G>A (p.Ala540Thr)
NM_001351169.2(NT5C2):c.1619C>T (p.Ala540Val)
NM_001351169.2(NT5C2):c.1626G>A (p.Gln542=)
NM_001351169.2(NT5C2):c.1662A>G (p.Glu554=) rs116702241
NM_001351169.2(NT5C2):c.1662_1664del (p.Glu561del) rs1380291300
NM_001351169.2(NT5C2):c.1662_1667del (p.Glu560_Glu561del) rs1338040632
NM_001351169.2(NT5C2):c.1665GGA[3] (p.Glu560_Glu561del) rs537259520
NM_001351169.2(NT5C2):c.1665GGA[4] (p.Glu561del) rs537259520
NM_001351169.2(NT5C2):c.1665GGA[6] (p.Glu561_Ter562insGlu) rs537259520
NM_001351169.2(NT5C2):c.1665GGA[7] (p.Glu561_Ter562insGluGlu)
NM_001351169.2(NT5C2):c.1668G>A (p.Glu556=)
NM_001351169.2(NT5C2):c.1678GAA[3] (p.Glu561_Ter562insGlu)
NM_001351169.2(NT5C2):c.175+19T>C
NM_001351169.2(NT5C2):c.176-10C>T rs753603040
NM_001351169.2(NT5C2):c.176-11T>A rs373347265
NM_001351169.2(NT5C2):c.176-15C>T
NM_001351169.2(NT5C2):c.176-19A>G
NM_001351169.2(NT5C2):c.176-7T>G rs2071371287
NM_001351169.2(NT5C2):c.205G>A (p.Gly69Ser)
NM_001351169.2(NT5C2):c.219T>C (p.Thr73=)
NM_001351169.2(NT5C2):c.223G>C (p.Glu75Gln)
NM_001351169.2(NT5C2):c.226del (p.Arg76fs)
NM_001351169.2(NT5C2):c.227G>C (p.Arg76Thr)
NM_001351169.2(NT5C2):c.232G>A (p.Val78Ile) rs2071354086
NM_001351169.2(NT5C2):c.251A>G (p.Gln84Arg)
NM_001351169.2(NT5C2):c.264C>T (p.Ser88=)
NM_001351169.2(NT5C2):c.277T>C (p.Ser93Pro)
NM_001351169.2(NT5C2):c.289A>G (p.Thr97Ala)
NM_001351169.2(NT5C2):c.293+13G>T
NM_001351169.2(NT5C2):c.300T>A (p.Leu100=) rs1590855976
NM_001351169.2(NT5C2):c.312_313del (p.Leu105fs) rs763305896
NM_001351169.2(NT5C2):c.325C>G (p.Leu109Val)
NM_001351169.2(NT5C2):c.328T>C (p.Leu110=)
NM_001351169.2(NT5C2):c.339T>C (p.Asp113=)
NM_001351169.2(NT5C2):c.369T>C (p.His123=)
NM_001351169.2(NT5C2):c.390-15A>C
NM_001351169.2(NT5C2):c.438T>C (p.Asp146=)
NM_001351169.2(NT5C2):c.445A>G (p.Arg149Gly) rs587777174
NM_001351169.2(NT5C2):c.481+11T>C
NM_001351169.2(NT5C2):c.481+6T>G
NM_001351169.2(NT5C2):c.486C>G (p.Thr162=)
NM_001351169.2(NT5C2):c.498C>T (p.Ala166=)
NM_001351169.2(NT5C2):c.537C>G (p.Thr179=)
NM_001351169.2(NT5C2):c.595C>T (p.Gln199Ter)
NM_001351169.2(NT5C2):c.616G>C (p.Asp206His)
NM_001351169.2(NT5C2):c.618C>T (p.Asp206=)
NM_001351169.2(NT5C2):c.634-13dup
NM_001351169.2(NT5C2):c.634-16T>C
NM_001351169.2(NT5C2):c.634-19T>C
NM_001351169.2(NT5C2):c.634-25_634-19dup
NM_001351169.2(NT5C2):c.634-6C>T
NM_001351169.2(NT5C2):c.675T>G (p.Tyr225Ter)
NM_001351169.2(NT5C2):c.677T>C (p.Val226Ala)
NM_001351169.2(NT5C2):c.685G>C (p.Asp229His) rs1590754368
NM_001351169.2(NT5C2):c.721G>C (p.Glu241Gln)
NM_001351169.2(NT5C2):c.724G>T (p.Val242Leu)
NM_001351169.2(NT5C2):c.761A>G (p.Lys254Arg)
NM_001351169.2(NT5C2):c.765T>C (p.Tyr255=)
NM_001351169.2(NT5C2):c.772-20T>C
NM_001351169.2(NT5C2):c.772-5del
NM_001351169.2(NT5C2):c.772-9T>A
NM_001351169.2(NT5C2):c.781A>T (p.Thr261Ser)
NM_001351169.2(NT5C2):c.813+14C>T
NM_001351169.2(NT5C2):c.813+6G>A
NM_001351169.2(NT5C2):c.814-10C>T
NM_001351169.2(NT5C2):c.819G>C (p.Gly273=)
NM_001351169.2(NT5C2):c.83G>A (p.Arg28His)
NM_001351169.2(NT5C2):c.861G>A (p.Leu287=)
NM_001351169.2(NT5C2):c.871C>T (p.Arg291Trp)
NM_001351169.2(NT5C2):c.961C>T (p.Leu321=)
NM_001351169.2(NT5C2):c.963A>G (p.Leu321=)
NM_001351169.2(NT5C2):c.976G>A (p.Val326Ile) rs913937142
NM_001351169.2(NT5C2):c.982T>C (p.Ser328Pro) rs1564921342
NM_001351169.2(NT5C2):c.988+5G>C
NM_001351169.2(NT5C2):c.989-13T>G
NM_001368809.2(AMPD2):c.-119G>C
NM_001368809.2(AMPD2):c.-133C>T
NM_001368809.2(AMPD2):c.-43_-24dup
NM_001368809.2(AMPD2):c.-45C>T
NM_001368809.2(AMPD2):c.-46C>G rs1650210949
NM_001368809.2(AMPD2):c.-95T>C
NM_001368809.2(AMPD2):c.1005T>C (p.His335=)
NM_001368809.2(AMPD2):c.1035C>T (p.Ala345=)
NM_001368809.2(AMPD2):c.104G>T (p.Gly35Val) rs2101153100
NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter)
NM_001368809.2(AMPD2):c.1072A>G (p.Ile358Val) rs1195759768
NM_001368809.2(AMPD2):c.1080+16G>A
NM_001368809.2(AMPD2):c.1080+18G>A
NM_001368809.2(AMPD2):c.1080+3G>A
NM_001368809.2(AMPD2):c.1081-18T>C
NM_001368809.2(AMPD2):c.1110C>T (p.Cys370=)
NM_001368809.2(AMPD2):c.1146G>A (p.Arg382=)
NM_001368809.2(AMPD2):c.1158G>A (p.Arg386=)
NM_001368809.2(AMPD2):c.1173C>T (p.Ile391=)
NM_001368809.2(AMPD2):c.1175T>C (p.Val392Ala)
NM_001368809.2(AMPD2):c.1179C>T (p.His393=)
NM_001368809.2(AMPD2):c.1197A>G (p.Glu399=)
NM_001368809.2(AMPD2):c.120G>A (p.Pro40=)
NM_001368809.2(AMPD2):c.1246C>T (p.Leu416=)
NM_001368809.2(AMPD2):c.1252G>A (p.Val418Met) rs2101165160
NM_001368809.2(AMPD2):c.1275+15C>T
NM_001368809.2(AMPD2):c.1275G>A (p.Ala425=)
NM_001368809.2(AMPD2):c.1276-13C>T
NM_001368809.2(AMPD2):c.1276-18C>G
NM_001368809.2(AMPD2):c.1286C>G (p.Thr429Ser) rs2101165790
NM_001368809.2(AMPD2):c.1329T>C (p.Ile443=)
NM_001368809.2(AMPD2):c.1338C>T (p.Ser446=)
NM_001368809.2(AMPD2):c.1365G>A (p.Thr455=)
NM_001368809.2(AMPD2):c.1408-3_1418del
NM_001368809.2(AMPD2):c.1446T>A (p.Asn482Lys) rs756027056
NM_001368809.2(AMPD2):c.144G>A (p.Pro48=)
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln) rs192669225
NM_001368809.2(AMPD2):c.145G>T (p.Gly49Cys) rs1200977295
NM_001368809.2(AMPD2):c.1474C>T (p.Arg492Cys)
NM_001368809.2(AMPD2):c.1478C>T (p.Ser493Leu)
NM_001368809.2(AMPD2):c.1503G>A (p.Ala501=)
NM_001368809.2(AMPD2):c.1505G>A (p.Arg502His)
NM_001368809.2(AMPD2):c.150C>T (p.Pro50=)
NM_001368809.2(AMPD2):c.1512C>T (p.Ala504=) rs769002205
NM_001368809.2(AMPD2):c.1513G>A (p.Val505Ile)
NM_001368809.2(AMPD2):c.1519C>A (p.His507Asn) rs374652371
NM_001368809.2(AMPD2):c.151G>A (p.Ala51Thr)
NM_001368809.2(AMPD2):c.1522C>G (p.Arg508Gly) rs146798795
NM_001368809.2(AMPD2):c.1525G>A (p.Val509Met)
NM_001368809.2(AMPD2):c.152C>T (p.Ala51Val)
NM_001368809.2(AMPD2):c.1532C>T (p.Ser511Phe) rs2101167424
NM_001368809.2(AMPD2):c.1534C>T (p.Pro512Ser)
NM_001368809.2(AMPD2):c.1571+19G>A
NM_001368809.2(AMPD2):c.1572-13G>T rs1370260788
NM_001368809.2(AMPD2):c.1637C>T (p.Pro546Leu)
NM_001368809.2(AMPD2):c.1698+1G>A rs1650988132
NM_001368809.2(AMPD2):c.1699-5A>G
NM_001368809.2(AMPD2):c.1699-9C>A
NM_001368809.2(AMPD2):c.1704T>C (p.Asp568=)
NM_001368809.2(AMPD2):c.1725T>C (p.Asp575=) rs2101169930
NM_001368809.2(AMPD2):c.1738G>A (p.Glu580Lys) rs867766720
NM_001368809.2(AMPD2):c.1779G>C (p.Ala593=) rs767362652
NM_001368809.2(AMPD2):c.180C>T (p.Asp60=)
NM_001368809.2(AMPD2):c.1825A>T (p.Thr609Ser)
NM_001368809.2(AMPD2):c.185G>A (p.Arg62His)
NM_001368809.2(AMPD2):c.1861A>G (p.Arg621Gly)
NM_001368809.2(AMPD2):c.1862+10C>G
NM_001368809.2(AMPD2):c.1863-3dup
NM_001368809.2(AMPD2):c.1863-7C>G rs563578390
NM_001368809.2(AMPD2):c.1863-7C>T
NM_001368809.2(AMPD2):c.1881G>A (p.Thr627=)
NM_001368809.2(AMPD2):c.190T>G (p.Ser64Ala)
NM_001368809.2(AMPD2):c.1971C>T (p.Leu657=)
NM_001368809.2(AMPD2):c.1979G>T (p.Arg660Leu) rs955380053
NM_001368809.2(AMPD2):c.2002C>T (p.Leu668=) rs780963535
NM_001368809.2(AMPD2):c.2013G>A (p.Leu671=)
NM_001368809.2(AMPD2):c.2017C>G (p.Gln673Glu)
NM_001368809.2(AMPD2):c.2064C>T (p.Leu688=)
NM_001368809.2(AMPD2):c.2101C>G (p.Arg701Gly) rs1264297138
NM_001368809.2(AMPD2):c.2127T>C (p.Thr709=)
NM_001368809.2(AMPD2):c.2151C>T (p.Phe717=)
NM_001368809.2(AMPD2):c.2157+14_2157+15delinsCC
NM_001368809.2(AMPD2):c.2157+16G>T
NM_001368809.2(AMPD2):c.2157G>A (p.Lys719=) rs2101174469
NM_001368809.2(AMPD2):c.2158-14C>T
NM_001368809.2(AMPD2):c.2158-6G>C
NM_001368809.2(AMPD2):c.2162C>T (p.Pro721Leu) rs1651160667
NM_001368809.2(AMPD2):c.2173G>A (p.Glu725Lys)
NM_001368809.2(AMPD2):c.222+15C>T
NM_001368809.2(AMPD2):c.222+20G>T
NM_001368809.2(AMPD2):c.2233C>G (p.Arg745Gly) rs762954605
NM_001368809.2(AMPD2):c.2234G>A (p.Arg745His)
NM_001368809.2(AMPD2):c.2254G>T (p.Gly752Cys)
NM_001368809.2(AMPD2):c.2268+11G>A
NM_001368809.2(AMPD2):c.2268+11G>C
NM_001368809.2(AMPD2):c.2268+18T>C
NM_001368809.2(AMPD2):c.2329C>G (p.Arg777Gly) rs1651209949
NM_001368809.2(AMPD2):c.2356G>A (p.Val786Met)
NM_001368809.2(AMPD2):c.2360G>A (p.Gly787Asp)
NM_001368809.2(AMPD2):c.237C>G (p.Arg79=) rs1650609306
NM_001368809.2(AMPD2):c.2388G>T (p.Glu796Asp) rs202071045
NM_001368809.2(AMPD2):c.239_262del (p.Ser80_Ser88delinsCys) rs2101154665
NM_001368809.2(AMPD2):c.2403G>A (p.Thr801=)
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=) rs553448801
NM_001368809.2(AMPD2):c.252C>T (p.Ser84=)
NM_001368809.2(AMPD2):c.276G>A (p.Glu92=) rs2101154925
NM_001368809.2(AMPD2):c.279C>T (p.Phe93=) rs2101154929
NM_001368809.2(AMPD2):c.282C>T (p.Pro94=)
NM_001368809.2(AMPD2):c.294C>T (p.Pro98=)
NM_001368809.2(AMPD2):c.314G>T (p.Arg105Leu) rs1650618181
NM_001368809.2(AMPD2):c.316C>T (p.Arg106Trp)
NM_001368809.2(AMPD2):c.319C>T (p.Gln107Ter)
NM_001368809.2(AMPD2):c.321G>A (p.Gln107=)
NM_001368809.2(AMPD2):c.330G>A (p.Glu110=)
NM_001368809.2(AMPD2):c.353+3G>A
NM_001368809.2(AMPD2):c.353+8C>A
NM_001368809.2(AMPD2):c.353+8C>T rs376994583
NM_001368809.2(AMPD2):c.376C>T (p.Arg126Trp)
NM_001368809.2(AMPD2):c.41A>T (p.Lys14Ile)
NM_001368809.2(AMPD2):c.422A>G (p.Gln141Arg) rs2101156801
NM_001368809.2(AMPD2):c.423-10C>T rs1010263262
NM_001368809.2(AMPD2):c.423-6C>G
NM_001368809.2(AMPD2):c.439G>C (p.Gly147Arg)
NM_001368809.2(AMPD2):c.456C>T (p.Asp152=)
NM_001368809.2(AMPD2):c.457C>T (p.Arg153Trp) rs373334637
NM_001368809.2(AMPD2):c.467G>A (p.Arg156Gln)
NM_001368809.2(AMPD2):c.474T>C (p.Arg158=) rs2101157468
NM_001368809.2(AMPD2):c.487C>T (p.Arg163Trp)
NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro) rs138175138
NM_001368809.2(AMPD2):c.50T>C (p.Phe17Ser)
NM_001368809.2(AMPD2):c.531+12G>A rs765227765
NM_001368809.2(AMPD2):c.532-19C>T
NM_001368809.2(AMPD2):c.574C>A (p.Arg192=)
NM_001368809.2(AMPD2):c.640C>T (p.Arg214Cys)
NM_001368809.2(AMPD2):c.646del (p.Leu216fs)
NM_001368809.2(AMPD2):c.66C>T (p.Ser22=)
NM_001368809.2(AMPD2):c.679C>T (p.Arg227Trp)
NM_001368809.2(AMPD2):c.700G>A (p.Asp234Asn)
NM_001368809.2(AMPD2):c.705C>T (p.Thr235=)
NM_001368809.2(AMPD2):c.719-13C>T
NM_001368809.2(AMPD2):c.73G>T (p.Ala25Ser) rs943933650
NM_001368809.2(AMPD2):c.741G>A (p.Ala247=)
NM_001368809.2(AMPD2):c.755C>T (p.Pro252Leu)
NM_001368809.2(AMPD2):c.756G>A (p.Pro252=)
NM_001368809.2(AMPD2):c.808C>T (p.Arg270Cys)
NM_001368809.2(AMPD2):c.809G>A (p.Arg270His) rs749468757
NM_001368809.2(AMPD2):c.81T>C (p.Thr27=)
NM_001368809.2(AMPD2):c.823G>A (p.Val275Met)
NM_001368809.2(AMPD2):c.831C>T (p.His277=)
NM_001368809.2(AMPD2):c.832G>C (p.Val278Leu) rs770528852
NM_001368809.2(AMPD2):c.842G>A (p.Arg281His)
NM_001368809.2(AMPD2):c.852CGA[1] (p.Asp285del) rs1650781134
NM_001368809.2(AMPD2):c.853G>A (p.Asp285Asn)
NM_001368809.2(AMPD2):c.861-3C>T
NM_001368809.2(AMPD2):c.91+9G>A rs750556724
NM_001368809.2(AMPD2):c.913G>A (p.Val305Ile)
NM_001368809.2(AMPD2):c.948C>T (p.Pro316=)
NM_001368809.2(AMPD2):c.950+12G>C
NM_001368809.2(AMPD2):c.950+19C>A
NM_001368809.2(AMPD2):c.951-11_951-9del rs2101163203
NM_001368809.2(AMPD2):c.951-7T>C
NM_001368809.2(AMPD2):c.971G>T (p.Arg324Leu) rs746332433
NM_001776.6(ENTPD1):c.1020C>G (p.Tyr340Ter)
NM_001776.6(ENTPD1):c.1037A>G (p.Asn346Ser)
NM_001776.6(ENTPD1):c.1050G>C (p.Leu350Phe) rs1004293638
NM_001776.6(ENTPD1):c.1074+15T>C
NM_001776.6(ENTPD1):c.1075-16C>T
NM_001776.6(ENTPD1):c.1086T>C (p.Ala362=)
NM_001776.6(ENTPD1):c.1139A>G (p.Glu380Gly)
NM_001776.6(ENTPD1):c.1183G>C (p.Glu395Gln) rs1400517603
NM_001776.6(ENTPD1):c.1185G>A (p.Glu395=)
NM_001776.6(ENTPD1):c.1197A>G (p.Thr399=)
NM_001776.6(ENTPD1):c.1203C>T (p.Tyr401=)
NM_001776.6(ENTPD1):c.1227G>A (p.Leu409=)
NM_001776.6(ENTPD1):c.1296_1301del (p.Asp432_Trp434delinsGlu)
NM_001776.6(ENTPD1):c.1303G>A (p.Glu435Lys) rs755289249
NM_001776.6(ENTPD1):c.1326+12del
NM_001776.6(ENTPD1):c.1326+14C>A
NM_001776.6(ENTPD1):c.1326+16G>T
NM_001776.6(ENTPD1):c.1326+6T>C rs971522483
NM_001776.6(ENTPD1):c.1326+7del rs756840545
NM_001776.6(ENTPD1):c.1326+9G>A
NM_001776.6(ENTPD1):c.1327-13C>T
NM_001776.6(ENTPD1):c.1327-8G>C
NM_001776.6(ENTPD1):c.1344C>T (p.Ala448=)
NM_001776.6(ENTPD1):c.1345G>A (p.Gly449Ser) rs761374158
NM_001776.6(ENTPD1):c.1351A>C (p.Thr451Pro)
NM_001776.6(ENTPD1):c.1352C>A (p.Thr451Asn)
NM_001776.6(ENTPD1):c.1362C>T (p.Tyr454=)
NM_001776.6(ENTPD1):c.138C>T (p.Asn46=)
NM_001776.6(ENTPD1):c.1430A>G (p.Tyr477Cys)
NM_001776.6(ENTPD1):c.1441A>C (p.Met481Leu) rs1373770480
NM_001776.6(ENTPD1):c.1449A>G (p.Leu483=)
NM_001776.6(ENTPD1):c.145-11G>A
NM_001776.6(ENTPD1):c.145-13G>A
NM_001776.6(ENTPD1):c.1455C>T (p.Ser485=)
NM_001776.6(ENTPD1):c.1494C>T (p.Ile498=) rs565508317
NM_001776.6(ENTPD1):c.1503G>A (p.Lys501=)
NM_001776.6(ENTPD1):c.16+13T>C rs766973012
NM_001776.6(ENTPD1):c.165G>C (p.Ala55=) rs377317244
NM_001776.6(ENTPD1):c.17-13C>T
NM_001776.6(ENTPD1):c.17-16C>T
NM_001776.6(ENTPD1):c.177C>G (p.His59Gln) rs1555301559
NM_001776.6(ENTPD1):c.189C>T (p.Tyr63=)
NM_001776.6(ENTPD1):c.19T>G (p.Ser7Ala)
NM_001776.6(ENTPD1):c.228C>T (p.Gly76=)
NM_001776.6(ENTPD1):c.259A>G (p.Lys87Glu)
NM_001776.6(ENTPD1):c.262+17G>A rs1403275794
NM_001776.6(ENTPD1):c.284T>C (p.Val95Ala) rs2098424427
NM_001776.6(ENTPD1):c.393G>A (p.Thr131=)
NM_001776.6(ENTPD1):c.399C>T (p.Gly133=)
NM_001776.6(ENTPD1):c.405G>T (p.Arg135=) rs2140831910
NM_001776.6(ENTPD1):c.414-11_414-8del
NM_001776.6(ENTPD1):c.414-13T>C
NM_001776.6(ENTPD1):c.414-17G>T
NM_001776.6(ENTPD1):c.414-6G>A rs1214012122
NM_001776.6(ENTPD1):c.414-6G>T
NM_001776.6(ENTPD1):c.419A>C (p.Glu140Ala)
NM_001776.6(ENTPD1):c.43A>G (p.Lys15Glu)
NM_001776.6(ENTPD1):c.479C>T (p.Pro160Leu)
NM_001776.6(ENTPD1):c.537G>T (p.Trp179Cys) rs2140853040
NM_001776.6(ENTPD1):c.551A>C (p.Tyr184Ser) rs1590121989
NM_001776.6(ENTPD1):c.573+16C>T
NM_001776.6(ENTPD1):c.574-20G>A
NM_001776.6(ENTPD1):c.623C>A (p.Thr208Asn) rs776491594
NM_001776.6(ENTPD1):c.656C>T (p.Thr219Ile)
NM_001776.6(ENTPD1):c.670G>A (p.Val224Ile) rs372290136
NM_001776.6(ENTPD1):c.690C>T (p.Ile230=)
NM_001776.6(ENTPD1):c.718C>T (p.Arg240Cys)
NM_001776.6(ENTPD1):c.740A>G (p.Asn247Ser)
NM_001776.6(ENTPD1):c.78C>G (p.Ile26Met) rs2140559554
NM_001776.6(ENTPD1):c.808A>G (p.Ile270Val)
NM_001776.6(ENTPD1):c.858A>G (p.Gly286=)
NM_001776.6(ENTPD1):c.861T>A (p.Tyr287Ter)
NM_001776.6(ENTPD1):c.871G>A (p.Val291Met)
NM_001776.6(ENTPD1):c.876C>T (p.Asn292=)
NM_001776.6(ENTPD1):c.915T>C (p.Phe305=)
NM_001776.6(ENTPD1):c.926T>C (p.Leu309Pro)
NM_001776.6(ENTPD1):c.978T>C (p.His326=)
NM_001776.6(ENTPD1):c.979C>G (p.Gln327Glu)
NM_002361.4(MAG):c.1025C>T (p.Thr342Met)
NM_002361.4(MAG):c.1029C>A (p.Val343=)
NM_002361.4(MAG):c.1044C>T (p.Ser348=)
NM_002361.4(MAG):c.1053C>T (p.Ser351=) rs2066456035
NM_002361.4(MAG):c.1058C>T (p.Pro353Leu) rs778356275
NM_002361.4(MAG):c.105C>T (p.Gly35=)
NM_002361.4(MAG):c.1074C>G (p.Thr358=)
NM_002361.4(MAG):c.1113C>T (p.Tyr371=)
NM_002361.4(MAG):c.1119C>T (p.Ser373=)
NM_002361.4(MAG):c.1139C>G (p.Pro380Arg) rs369453547
NM_002361.4(MAG):c.1143C>A (p.Ala381=)
NM_002361.4(MAG):c.1143C>T (p.Ala381=) rs146330554
NM_002361.4(MAG):c.1144G>T (p.Val382Leu) rs751480059
NM_002361.4(MAG):c.1156G>A (p.Asp386Asn)
NM_002361.4(MAG):c.116C>T (p.Ser39Phe) rs201798784
NM_002361.4(MAG):c.1182T>C (p.Ala394=)
NM_002361.4(MAG):c.1193A>G (p.Tyr398Cys) rs2145615651
NM_002361.4(MAG):c.120C>A (p.Ile40=) rs374238503
NM_002361.4(MAG):c.1218C>T (p.Asn406=)
NM_002361.4(MAG):c.1232-18C>A
NM_002361.4(MAG):c.1233C>T (p.Phe411=)
NM_002361.4(MAG):c.1246C>T (p.Leu416Phe)
NM_002361.4(MAG):c.1260C>T (p.His420=)
NM_002361.4(MAG):c.128G>A (p.Arg43His)
NM_002361.4(MAG):c.1296C>T (p.Cys432=)
NM_002361.4(MAG):c.1297G>A (p.Val433Met)
NM_002361.4(MAG):c.1317G>A (p.Glu439=)
NM_002361.4(MAG):c.1320G>A (p.Pro440=) rs200859170
NM_002361.4(MAG):c.1353G>T (p.Val451=)
NM_002361.4(MAG):c.1356C>T (p.Thr452=)
NM_002361.4(MAG):c.1380C>T (p.Phe460=)
NM_002361.4(MAG):c.1387T>G (p.Ser463Ala)
NM_002361.4(MAG):c.1437G>A (p.Gln479=)
NM_002361.4(MAG):c.1449G>T (p.Pro483=)
NM_002361.4(MAG):c.1470G>A (p.Ala490=)
NM_002361.4(MAG):c.1470G>T (p.Ala490=)
NM_002361.4(MAG):c.1519+15C>G
NM_002361.4(MAG):c.1520-3_1520-2del
NM_002361.4(MAG):c.1520-4T>G
NM_002361.4(MAG):c.1523_1530del (p.Arg508fs)
NM_002361.4(MAG):c.152G>A (p.Arg51Gln)
NM_002361.4(MAG):c.153G>A (p.Arg51=)
NM_002361.4(MAG):c.1563C>T (p.Val521=)
NM_002361.4(MAG):c.1566C>T (p.Ala522=)
NM_002361.4(MAG):c.1568T>C (p.Phe523Ser)
NM_002361.4(MAG):c.1576_1587dup (p.Ile529_Val530insLeuIleAlaIle)
NM_002361.4(MAG):c.1587C>T (p.Ile529=)
NM_002361.4(MAG):c.15G>A (p.Thr5=)
NM_002361.4(MAG):c.15G>C (p.Thr5=)
NM_002361.4(MAG):c.1603C>G (p.Gln535Glu)
NM_002361.4(MAG):c.1671G>A (p.Leu557=)
NM_002361.4(MAG):c.1687C>T (p.Arg563Cys)
NM_002361.4(MAG):c.1714G>A (p.Glu572Lys) rs1286617721
NM_002361.4(MAG):c.1716+12G>C
NM_002361.4(MAG):c.1717-8C>T
NM_002361.4(MAG):c.1727G>A (p.Arg576His)
NM_002361.4(MAG):c.1759C>T (p.Arg587Trp)
NM_002361.4(MAG):c.1770C>A (p.Pro590=) rs201562930
NM_002361.4(MAG):c.1770C>T (p.Pro590=)
NM_002361.4(MAG):c.1773A>G (p.Pro591=)
NM_002361.4(MAG):c.1788C>T (p.Ser596=)
NM_002361.4(MAG):c.1811A>G (p.Lys604Arg)
NM_002361.4(MAG):c.1820C>A (p.Thr607Asn)
NM_002361.4(MAG):c.1831T>C (p.Tyr611His) rs376265373
NM_002361.4(MAG):c.1835C>T (p.Thr612Met)
NM_002361.4(MAG):c.1851A>C (p.Leu617=)
NM_002361.4(MAG):c.185A>G (p.Asn62Ser)
NM_002361.4(MAG):c.213G>A (p.Pro71=)
NM_002361.4(MAG):c.228G>A (p.Ser76=) rs142334011
NM_002361.4(MAG):c.228G>C (p.Ser76=)
NM_002361.4(MAG):c.228G>T (p.Ser76=)
NM_002361.4(MAG):c.230G>A (p.Arg77His) rs140544202
NM_002361.4(MAG):c.230G>T (p.Arg77Leu)
NM_002361.4(MAG):c.243C>G (p.Val81=) rs757126944
NM_002361.4(MAG):c.268C>T (p.Arg90Cys)
NM_002361.4(MAG):c.269G>A (p.Arg90His)
NM_002361.4(MAG):c.318C>A (p.Asn106Lys)
NM_002361.4(MAG):c.318C>T (p.Asn106=)
NM_002361.4(MAG):c.328G>T (p.Glu110Ter) rs770788013
NM_002361.4(MAG):c.329A>C (p.Glu110Ala)
NM_002361.4(MAG):c.367G>A (p.Gly123Ser)
NM_002361.4(MAG):c.400G>A (p.Val134Ile)
NM_002361.4(MAG):c.40A>G (p.Ile14Val)
NM_002361.4(MAG):c.416-12C>G
NM_002361.4(MAG):c.430G>T (p.Val144Leu)
NM_002361.4(MAG):c.46+20G>A
NM_002361.4(MAG):c.46+5C>A rs200192210
NM_002361.4(MAG):c.46+6G>A
NM_002361.4(MAG):c.468G>C (p.Glu156Asp)
NM_002361.4(MAG):c.47-13T>C rs2145604502
NM_002361.4(MAG):c.47-15C>T
NM_002361.4(MAG):c.47-16T>A
NM_002361.4(MAG):c.47-19C>T
NM_002361.4(MAG):c.481G>C (p.Val161Leu) rs770946769
NM_002361.4(MAG):c.486G>A (p.Pro162=)
NM_002361.4(MAG):c.513G>T (p.Glu171Asp)
NM_002361.4(MAG):c.52C>A (p.Arg18=) rs2066390615
NM_002361.4(MAG):c.537G>A (p.Gly179=) rs201920156
NM_002361.4(MAG):c.580G>A (p.Gly194Ser)
NM_002361.4(MAG):c.601C>G (p.Leu201Val)
NM_002361.4(MAG):c.603_604delinsAA (p.Leu202Met) rs36055167
NM_002361.4(MAG):c.608A>G (p.His203Arg)
NM_002361.4(MAG):c.612C>T (p.Phe204=)
NM_002361.4(MAG):c.619A>G (p.Thr207Ala)
NM_002361.4(MAG):c.621G>A (p.Thr207=)
NM_002361.4(MAG):c.642G>A (p.Arg214=) rs1279257840
NM_002361.4(MAG):c.657C>G (p.Ala219=)
NM_002361.4(MAG):c.657C>T (p.Ala219=) rs199895804
NM_002361.4(MAG):c.672C>T (p.Thr224=)
NM_002361.4(MAG):c.687G>A (p.Glu229=) rs2145611517
NM_002361.4(MAG):c.694G>A (p.Ala232Thr)
NM_002361.4(MAG):c.706G>A (p.Val236Ile)
NM_002361.4(MAG):c.712+15GGGCG[3]
NM_002361.4(MAG):c.712+15GGGCG[4]
NM_002361.4(MAG):c.712+19GGGGCGGGGT[2] rs773009758
NM_002361.4(MAG):c.712+19GGGGCGGGGT[4] rs773009758
NM_002361.4(MAG):c.713-4T>C
NM_002361.4(MAG):c.719dup (p.Val241fs) rs770601245
NM_002361.4(MAG):c.723G>T (p.Val241=)
NM_002361.4(MAG):c.752C>T (p.Ala251Val)
NM_002361.4(MAG):c.760G>A (p.Gly254Ser)
NM_002361.4(MAG):c.785G>A (p.Gly262Glu)
NM_002361.4(MAG):c.807G>C (p.Pro269=) rs200687098
NM_002361.4(MAG):c.828C>T (p.Asp276=)
NM_002361.4(MAG):c.831G>C (p.Gly277=) rs1350224163
NM_002361.4(MAG):c.850G>A (p.Val284Met)
NM_002361.4(MAG):c.858G>A (p.Glu286=)
NM_002361.4(MAG):c.920C>T (p.Ala307Val)
NM_002361.4(MAG):c.947G>T (p.Arg316Leu) rs370453303
NM_002361.4(MAG):c.970+17G>A
NM_002361.4(MAG):c.970+18T>C
NM_002361.4(MAG):c.970+3G>A
NM_002361.4(MAG):c.971-15C>T
NM_002361.4(MAG):c.971-16C>G
NM_002860.4(ALDH18A1):c.1001A>G (p.Lys334Arg)
NM_002860.4(ALDH18A1):c.1005G>A (p.Val335=)
NM_002860.4(ALDH18A1):c.100C>G (p.Pro34Ala)
NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile) rs1346763871
NM_002860.4(ALDH18A1):c.1032_1033delinsTC (p.Glu345Gln)
NM_002860.4(ALDH18A1):c.1042A>G (p.Lys348Glu)
NM_002860.4(ALDH18A1):c.1046T>G (p.Val349Gly)
NM_002860.4(ALDH18A1):c.1047T>G (p.Val349=)
NM_002860.4(ALDH18A1):c.1048G>T (p.Gly350Cys)
NM_002860.4(ALDH18A1):c.1071G>A (p.Lys357=)
NM_002860.4(ALDH18A1):c.1073C>T (p.Pro358Leu) rs868590536
NM_002860.4(ALDH18A1):c.1076C>T (p.Ala359Val) rs933310637
NM_002860.4(ALDH18A1):c.1078+12_1078+14del
NM_002860.4(ALDH18A1):c.1078+20G>A
NM_002860.4(ALDH18A1):c.1078+4A>G rs1566018543
NM_002860.4(ALDH18A1):c.1078+5A>G rs2139591190
NM_002860.4(ALDH18A1):c.1078+6T>C rs919353563
NM_002860.4(ALDH18A1):c.1079-11T>C
NM_002860.4(ALDH18A1):c.1079-16G>T
NM_002860.4(ALDH18A1):c.1104A>G (p.Glu368=)
NM_002860.4(ALDH18A1):c.1106T>C (p.Met369Thr)
NM_002860.4(ALDH18A1):c.1112G>C (p.Arg371Pro)
NM_002860.4(ALDH18A1):c.1112G>T (p.Arg371Leu)
NM_002860.4(ALDH18A1):c.111C>G (p.Ile37Met)
NM_002860.4(ALDH18A1):c.1126A>T (p.Met376Leu)
NM_002860.4(ALDH18A1):c.1137C>G (p.Thr379=)
NM_002860.4(ALDH18A1):c.1144C>T (p.Pro382Ser)
NM_002860.4(ALDH18A1):c.1150C>G (p.Gln384Glu)
NM_002860.4(ALDH18A1):c.1151A>G (p.Gln384Arg)
NM_002860.4(ALDH18A1):c.1152+1G>A
NM_002860.4(ALDH18A1):c.1152+6A>C
NM_002860.4(ALDH18A1):c.1153-11C>G
NM_002860.4(ALDH18A1):c.1153-6T>C
NM_002860.4(ALDH18A1):c.1153-8_1153-5del
NM_002860.4(ALDH18A1):c.1172A>T (p.His391Leu) rs774081826
NM_002860.4(ALDH18A1):c.1177G>A (p.Ala393Thr)
NM_002860.4(ALDH18A1):c.1180G>A (p.Asp394Asn)
NM_002860.4(ALDH18A1):c.1191G>A (p.Thr397=)
NM_002860.4(ALDH18A1):c.1199G>A (p.Arg400His) rs1283928441
NM_002860.4(ALDH18A1):c.11A>G (p.Gln4Arg)
NM_002860.4(ALDH18A1):c.121C>G (p.Arg41Gly) rs370450551
NM_002860.4(ALDH18A1):c.121C>T (p.Arg41Cys)
NM_002860.4(ALDH18A1):c.1227dup (p.Asp410fs)
NM_002860.4(ALDH18A1):c.1236G>C (p.Glu412Asp)
NM_002860.4(ALDH18A1):c.1246+15A>G
NM_002860.4(ALDH18A1):c.1247-16C>G
NM_002860.4(ALDH18A1):c.1247-17T>A rs1208309079
NM_002860.4(ALDH18A1):c.1253T>C (p.Leu418Pro) rs201069261
NM_002860.4(ALDH18A1):c.1267C>A (p.Leu423Met)
NM_002860.4(ALDH18A1):c.1275T>C (p.Arg425=)
NM_002860.4(ALDH18A1):c.1280G>A (p.Ser427Asn)
NM_002860.4(ALDH18A1):c.1290A>C (p.Thr430=)
NM_002860.4(ALDH18A1):c.1292C>A (p.Ser431Tyr)
NM_002860.4(ALDH18A1):c.1312A>G (p.Ile438Val)
NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter) rs145289559
NM_002860.4(ALDH18A1):c.1322G>A (p.Arg441Gln)
NM_002860.4(ALDH18A1):c.1330G>A (p.Ala444Thr)
NM_002860.4(ALDH18A1):c.1350C>T (p.Ser450=)
NM_002860.4(ALDH18A1):c.1357C>T (p.Arg453Cys)
NM_002860.4(ALDH18A1):c.135C>A (p.Asn45Lys)
NM_002860.4(ALDH18A1):c.1369C>T (p.Arg457Cys)
NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His) rs570730665
NM_002860.4(ALDH18A1):c.1370G>T (p.Arg457Leu) rs570730665
NM_002860.4(ALDH18A1):c.1371C>T (p.Arg457=)
NM_002860.4(ALDH18A1):c.1380C>A (p.Ile460=) rs770247123
NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg) rs886047511
NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln) rs757876226
NM_002860.4(ALDH18A1):c.140C>T (p.Pro47Leu)
NM_002860.4(ALDH18A1):c.1411G>A (p.Val471Ile) rs778369085
NM_002860.4(ALDH18A1):c.1411G>T (p.Val471Phe) rs778369085
NM_002860.4(ALDH18A1):c.141G>A (p.Pro47=)
NM_002860.4(ALDH18A1):c.141G>T (p.Pro47=) rs748824728
NM_002860.4(ALDH18A1):c.1447C>T (p.Arg483Cys)
NM_002860.4(ALDH18A1):c.1463C>T (p.Pro488Leu)
NM_002860.4(ALDH18A1):c.1468-2A>C
NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=) rs1374293487
NM_002860.4(ALDH18A1):c.1474G>A (p.Ala492Thr) rs2139552444
NM_002860.4(ALDH18A1):c.1474G>C (p.Ala492Pro)
NM_002860.4(ALDH18A1):c.1492G>A (p.Gly498Ser)
NM_002860.4(ALDH18A1):c.1503G>A (p.Leu501=) rs77717600
NM_002860.4(ALDH18A1):c.1506A>G (p.Leu502=)
NM_002860.4(ALDH18A1):c.1514G>A (p.Gly505Glu)
NM_002860.4(ALDH18A1):c.1517G>T (p.Gly506Val)
NM_002860.4(ALDH18A1):c.1524G>A (p.Glu508=)
NM_002860.4(ALDH18A1):c.1541G>A (p.Arg514Gln)
NM_002860.4(ALDH18A1):c.1549C>T (p.His517Tyr)
NM_002860.4(ALDH18A1):c.1551C>A (p.His517Gln) rs185313265
NM_002860.4(ALDH18A1):c.1551C>T (p.His517=)
NM_002860.4(ALDH18A1):c.155C>T (p.Pro52Leu) rs140745368
NM_002860.4(ALDH18A1):c.1564_1565delinsTT (p.Glu522Leu)
NM_002860.4(ALDH18A1):c.1567G>C (p.Ala523Pro)
NM_002860.4(ALDH18A1):c.1567G>T (p.Ala523Ser)
NM_002860.4(ALDH18A1):c.1576A>G (p.Ile526Val)
NM_002860.4(ALDH18A1):c.157C>G (p.Leu53Val)
NM_002860.4(ALDH18A1):c.1605+11G>C
NM_002860.4(ALDH18A1):c.1605+16T>C
NM_002860.4(ALDH18A1):c.1606-13T>C
NM_002860.4(ALDH18A1):c.1606-15T>C rs2139542064
NM_002860.4(ALDH18A1):c.1606-18del rs532582192
NM_002860.4(ALDH18A1):c.1606-19_1606-15del
NM_002860.4(ALDH18A1):c.1606-7T>C
NM_002860.4(ALDH18A1):c.1617A>C (p.Arg539Ser)
NM_002860.4(ALDH18A1):c.1624G>A (p.Val542Ile) rs552325165
NM_002860.4(ALDH18A1):c.163C>T (p.Arg55Cys)
NM_002860.4(ALDH18A1):c.1640G>A (p.Arg547His)
NM_002860.4(ALDH18A1):c.1653G>T (p.Met551Ile)
NM_002860.4(ALDH18A1):c.1655T>C (p.Ile552Thr)
NM_002860.4(ALDH18A1):c.1664T>A (p.Ile555Asn)
NM_002860.4(ALDH18A1):c.1672C>G (p.Arg558Gly)
NM_002860.4(ALDH18A1):c.1673G>A (p.Arg558His)
NM_002860.4(ALDH18A1):c.1685A>G (p.Gln562Arg)
NM_002860.4(ALDH18A1):c.1690G>A (p.Val564Ile) rs2097840471
NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)
NM_002860.4(ALDH18A1):c.1703A>G (p.Gln568Arg)
NM_002860.4(ALDH18A1):c.1703A>T (p.Gln568Leu)
NM_002860.4(ALDH18A1):c.1713dup (p.Lys572Ter)
NM_002860.4(ALDH18A1):c.1729A>G (p.Met577Val)
NM_002860.4(ALDH18A1):c.1737C>T (p.His579=)
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=) rs139035272
NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly) rs1231068982
NM_002860.4(ALDH18A1):c.1778G>C (p.Ser593Thr)
NM_002860.4(ALDH18A1):c.1780G>A (p.Val594Ile)
NM_002860.4(ALDH18A1):c.1784A>T (p.Asp595Val)
NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn) rs764910330
NM_002860.4(ALDH18A1):c.1795del (p.Arg599fs)
NM_002860.4(ALDH18A1):c.1798C>G (p.Leu600Val) rs1755139847
NM_002860.4(ALDH18A1):c.1801+10A>G
NM_002860.4(ALDH18A1):c.1802-20C>A
NM_002860.4(ALDH18A1):c.1802-20C>G
NM_002860.4(ALDH18A1):c.1802-21_1802-17del
NM_002860.4(ALDH18A1):c.1804del (p.Arg602fs)
NM_002860.4(ALDH18A1):c.1864C>G (p.Arg622Gly)
NM_002860.4(ALDH18A1):c.1894C>A (p.Gln632Lys)
NM_002860.4(ALDH18A1):c.190C>T (p.Arg64Cys)
NM_002860.4(ALDH18A1):c.1915G>A (p.Val639Met)
NM_002860.4(ALDH18A1):c.1923+13T>C
NM_002860.4(ALDH18A1):c.1924-11del
NM_002860.4(ALDH18A1):c.1924G>C (p.Val642Leu)
NM_002860.4(ALDH18A1):c.1936G>C (p.Ala646Pro) rs2097834259
NM_002860.4(ALDH18A1):c.1940G>A (p.Gly647Asp) rs2139530815
NM_002860.4(ALDH18A1):c.1956C>T (p.Ser652=)
NM_002860.4(ALDH18A1):c.1958A>C (p.Tyr653Ser)
NM_002860.4(ALDH18A1):c.1985A>G (p.Lys662Arg) rs1250411325
NM_002860.4(ALDH18A1):c.1993C>T (p.Arg665Ter)
NM_002860.4(ALDH18A1):c.19C>T (p.Arg7Cys)
NM_002860.4(ALDH18A1):c.2007G>A (p.Gly669=)
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr) rs989031241
NM_002860.4(ALDH18A1):c.2028A>G (p.Glu676=) rs1327684346
NM_002860.4(ALDH18A1):c.2032G>A (p.Val678Met)
NM_002860.4(ALDH18A1):c.2039A>G (p.Asn680Ser) rs2139530277
NM_002860.4(ALDH18A1):c.2041G>T (p.Val681Phe)
NM_002860.4(ALDH18A1):c.204G>C (p.Lys68Asn) rs768807587
NM_002860.4(ALDH18A1):c.2051C>A (p.Ala684Asp)
NM_002860.4(ALDH18A1):c.2054T>C (p.Ile685Thr) rs2139530175
NM_002860.4(ALDH18A1):c.2064C>T (p.Ile688=)
NM_002860.4(ALDH18A1):c.2067C>G (p.His689Gln)
NM_002860.4(ALDH18A1):c.2078G>C (p.Ser693Thr)
NM_002860.4(ALDH18A1):c.2081C>T (p.Ser694Phe)
NM_002860.4(ALDH18A1):c.2085C>T (p.His695=)
NM_002860.4(ALDH18A1):c.2088G>A (p.Thr696=)
NM_002860.4(ALDH18A1):c.2097C>T (p.Ile699=)
NM_002860.4(ALDH18A1):c.2098G>T (p.Val700Phe) rs375705932
NM_002860.4(ALDH18A1):c.20G>A (p.Arg7His)
NM_002860.4(ALDH18A1):c.20G>C (p.Arg7Pro) rs753553298
NM_002860.4(ALDH18A1):c.2110+10C>T
NM_002860.4(ALDH18A1):c.2111-12_2111-10del
NM_002860.4(ALDH18A1):c.2111-14T>C
NM_002860.4(ALDH18A1):c.2111-5T>C
NM_002860.4(ALDH18A1):c.2111-7C>A rs542177817
NM_002860.4(ALDH18A1):c.2114A>G (p.Asn705Ser) rs1325485951
NM_002860.4(ALDH18A1):c.2117_2118del (p.Thr706fs)
NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg) rs2097831329
NM_002860.4(ALDH18A1):c.2139C>T (p.His713=)
NM_002860.4(ALDH18A1):c.2148T>C (p.Ser716=)
NM_002860.4(ALDH18A1):c.2149G>A (p.Ala717Thr)
NM_002860.4(ALDH18A1):c.2195G>A (p.Arg732His) rs774916138
NM_002860.4(ALDH18A1):c.2201G>A (p.Gly734Glu)
NM_002860.4(ALDH18A1):c.2207-14A>T
NM_002860.4(ALDH18A1):c.2207-7_2207-6inv
NM_002860.4(ALDH18A1):c.220G>A (p.Val74Met)
NM_002860.4(ALDH18A1):c.220G>T (p.Val74Leu)
NM_002860.4(ALDH18A1):c.2225G>T (p.Ser742Ile) rs765567477
NM_002860.4(ALDH18A1):c.2230T>A (p.Ser744Thr)
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp) rs762271422
NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu) rs762271422
NM_002860.4(ALDH18A1):c.2232G>C (p.Ser744=) rs148601288
NM_002860.4(ALDH18A1):c.223G>T (p.Val75Leu)
NM_002860.4(ALDH18A1):c.2241C>T (p.His747=)
NM_002860.4(ALDH18A1):c.2257G>A (p.Gly753Arg) rs2139513759
NM_002860.4(ALDH18A1):c.2260C>T (p.Leu754Phe) rs2139513721
NM_002860.4(ALDH18A1):c.2270T>G (p.Leu757Arg) rs2139513699
NM_002860.4(ALDH18A1):c.2277T>C (p.Thr759=)
NM_002860.4(ALDH18A1):c.2278A>G (p.Thr760Ala)
NM_002860.4(ALDH18A1):c.2279C>T (p.Thr760Ile)
NM_002860.4(ALDH18A1):c.227A>G (p.Lys76Arg)
NM_002860.4(ALDH18A1):c.22T>C (p.Cys8Arg) rs2139670118
NM_002860.4(ALDH18A1):c.2307C>T (p.His769=)
NM_002860.4(ALDH18A1):c.2329C>A (p.His777Asn)
NM_002860.4(ALDH18A1):c.2329C>T (p.His777Tyr) rs553385013
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
NM_002860.4(ALDH18A1):c.2339T>C (p.Leu780Ser)
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser) rs774047299
NM_002860.4(ALDH18A1):c.2353G>A (p.Glu785Lys)
NM_002860.4(ALDH18A1):c.2370T>G (p.Pro790=)
NM_002860.4(ALDH18A1):c.251G>C (p.Arg84Pro)
NM_002860.4(ALDH18A1):c.255G>T (p.Gly85=)
NM_002860.4(ALDH18A1):c.256G>A (p.Asp86Asn)
NM_002860.4(ALDH18A1):c.259G>A (p.Glu87Lys)
NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=) rs537733180
NM_002860.4(ALDH18A1):c.265G>A (p.Gly89Ser) rs1085307589
NM_002860.4(ALDH18A1):c.26G>T (p.Gly9Val) rs2139670109
NM_002860.4(ALDH18A1):c.279G>A (p.Gly93=)
NM_002860.4(ALDH18A1):c.280C>T (p.Arg94Cys) rs2139642020
NM_002860.4(ALDH18A1):c.281G>A (p.Arg94His)
NM_002860.4(ALDH18A1):c.293T>C (p.Ile98Thr)
NM_002860.4(ALDH18A1):c.295G>A (p.Val99Ile)
NM_002860.4(ALDH18A1):c.299A>C (p.Glu100Ala)
NM_002860.4(ALDH18A1):c.303+10A>T
NM_002860.4(ALDH18A1):c.303+12G>A
NM_002860.4(ALDH18A1):c.303+15A>G
NM_002860.4(ALDH18A1):c.303+4_303+7dup rs772902503
NM_002860.4(ALDH18A1):c.304-3del
NM_002860.4(ALDH18A1):c.339del (p.Met113fs)
NM_002860.4(ALDH18A1):c.33G>C (p.Gln11His) rs2097913334
NM_002860.4(ALDH18A1):c.34C>G (p.Pro12Ala)
NM_002860.4(ALDH18A1):c.357C>G (p.Ala119=) rs767594147
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) rs863224945
NM_002860.4(ALDH18A1):c.366T>C (p.Phe122=) rs2139622090
NM_002860.4(ALDH18A1):c.371A>G (p.Lys124Arg)
NM_002860.4(ALDH18A1):c.382C>T (p.Arg128Cys)
NM_002860.4(ALDH18A1):c.407G>A (p.Ser136Asn)
NM_002860.4(ALDH18A1):c.408C>A (p.Ser136Arg)
NM_002860.4(ALDH18A1):c.40A>G (p.Asn14Asp)
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln) rs863225045
NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu) rs1302919102
NM_002860.4(ALDH18A1):c.42C>T (p.Asn14=)
NM_002860.4(ALDH18A1):c.469G>C (p.Glu157Gln)
NM_002860.4(ALDH18A1):c.475C>A (p.Arg159=)
NM_002860.4(ALDH18A1):c.49C>A (p.Leu17Ile) rs2139670010
NM_002860.4(ALDH18A1):c.522G>A (p.Glu174=) rs1240158166
NM_002860.4(ALDH18A1):c.545del (p.Ile182fs)
NM_002860.4(ALDH18A1):c.553_554delinsTT (p.Ala185Phe)
NM_002860.4(ALDH18A1):c.555C>G (p.Ala185=)
NM_002860.4(ALDH18A1):c.558+18G>T rs2139620979
NM_002860.4(ALDH18A1):c.559-12T>C
NM_002860.4(ALDH18A1):c.565G>C (p.Val189Leu)
NM_002860.4(ALDH18A1):c.572A>C (p.Asn191Thr) rs747052164
NM_002860.4(ALDH18A1):c.601C>T (p.Arg201Trp)
NM_002860.4(ALDH18A1):c.642C>T (p.Asn214=) rs1589534526
NM_002860.4(ALDH18A1):c.648C>A (p.Val216=)
NM_002860.4(ALDH18A1):c.678C>A (p.Val226=)
NM_002860.4(ALDH18A1):c.687T>C (p.Ala229=)
NM_002860.4(ALDH18A1):c.695A>G (p.Asn232Ser)
NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp) rs201841420
NM_002860.4(ALDH18A1):c.714A>G (p.Val238=)
NM_002860.4(ALDH18A1):c.715A>G (p.Asn239Asp) rs2139609482
NM_002860.4(ALDH18A1):c.717+13T>C
NM_002860.4(ALDH18A1):c.717+9A>C
NM_002860.4(ALDH18A1):c.718-20C>T rs1488774481
NM_002860.4(ALDH18A1):c.718-3T>C
NM_002860.4(ALDH18A1):c.718-7A>C rs1230591674
NM_002860.4(ALDH18A1):c.718G>C (p.Val240Leu) rs2139608040
NM_002860.4(ALDH18A1):c.731A>G (p.Lys244Arg) rs2139607977
NM_002860.4(ALDH18A1):c.732_737del (p.Lys244_Asp245del)
NM_002860.4(ALDH18A1):c.73A>G (p.Thr25Ala)
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs) rs1555262375
NM_002860.4(ALDH18A1):c.743G>A (p.Ser248Asn) rs2097873418
NM_002860.4(ALDH18A1):c.748G>A (p.Ala250Thr)
NM_002860.4(ALDH18A1):c.754C>G (p.Arg252Gly)
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_002860.4(ALDH18A1):c.781C>G (p.Leu261Val)
NM_002860.4(ALDH18A1):c.782T>C (p.Leu261Pro)
NM_002860.4(ALDH18A1):c.808+3A>G
NM_002860.4(ALDH18A1):c.809-15_809-14del
NM_002860.4(ALDH18A1):c.809-18C>T rs778442273
NM_002860.4(ALDH18A1):c.809-1G>A rs1202802893
NM_002860.4(ALDH18A1):c.809-8T>C rs1405015772
NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=) rs752470665
NM_002860.4(ALDH18A1):c.826C>T (p.Pro276Ser) rs372092118
NM_002860.4(ALDH18A1):c.836A>G (p.Asp279Gly)
NM_002860.4(ALDH18A1):c.839A>G (p.Asp280Gly)
NM_002860.4(ALDH18A1):c.856A>G (p.Ile286Val)
NM_002860.4(ALDH18A1):c.867C>T (p.Pro289=)
NM_002860.4(ALDH18A1):c.87T>G (p.Ser29=) rs2097913253
NM_002860.4(ALDH18A1):c.88+13G>C
NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys) rs768985400
NM_002860.4(ALDH18A1):c.89-3C>T
NM_002860.4(ALDH18A1):c.89-6C>G rs2097895286
NM_002860.4(ALDH18A1):c.89-9T>C
NM_002860.4(ALDH18A1):c.917G>T (p.Gly306Val)
NM_002860.4(ALDH18A1):c.928_929delinsAT (p.Ala310Ile)
NM_002860.4(ALDH18A1):c.933+19_933+20insAAGAATCTGGTGCCTTACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_002860.4(ALDH18A1):c.933+1G>A rs2139593958
NM_002860.4(ALDH18A1):c.933+6A>C
NM_002860.4(ALDH18A1):c.945C>A (p.Ala315=)
NM_002860.4(ALDH18A1):c.945C>T (p.Ala315=) rs566528582
NM_002860.4(ALDH18A1):c.946C>G (p.Leu316Val)
NM_002860.4(ALDH18A1):c.95T>C (p.Ile32Thr)
NM_002860.4(ALDH18A1):c.965G>T (p.Gly322Val)
NM_002860.4(ALDH18A1):c.967A>G (p.Thr323Ala)
NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe) rs192770256
NM_002860.4(ALDH18A1):c.973GTT[1] (p.Val326del)
NM_006070.6(TFG):c.1009A>G (p.Thr337Ala)
NM_006070.6(TFG):c.1012A>G (p.Asn338Asp)
NM_006070.6(TFG):c.1014T>G (p.Asn338Lys) rs1553704923
NM_006070.6(TFG):c.1017T>A (p.Tyr339Ter)
NM_006070.6(TFG):c.101A>T (p.Asp34Val)
NM_006070.6(TFG):c.1027C>G (p.Pro343Ala) rs750232252
NM_006070.6(TFG):c.1030G>A (p.Ala344Thr) rs1576389587
NM_006070.6(TFG):c.1036C>T (p.Gln346Ter) rs1576389617
NM_006070.6(TFG):c.1051C>T (p.Pro351Ser) rs2149106556
NM_006070.6(TFG):c.1054A>G (p.Ser352Gly)
NM_006070.6(TFG):c.1097T>A (p.Leu366His)
NM_006070.6(TFG):c.1111A>G (p.Met371Val) rs2095155960
NM_006070.6(TFG):c.1113G>A (p.Met371Ile)
NM_006070.6(TFG):c.1118dup (p.Pro374fs)
NM_006070.6(TFG):c.1120C>T (p.Pro374Ser) rs781504257
NM_006070.6(TFG):c.1123C>T (p.Pro375Ser)
NM_006070.6(TFG):c.1131G>A (p.Gly377=)
NM_006070.6(TFG):c.1133C>T (p.Pro378Leu) rs2095156171
NM_006070.6(TFG):c.1153C>G (p.Arg385Gly)
NM_006070.6(TFG):c.1157C>T (p.Pro386Leu) rs766049461
NM_006070.6(TFG):c.1163T>G (p.Phe388Cys) rs2149106914
NM_006070.6(TFG):c.1166G>A (p.Gly389Asp)
NM_006070.6(TFG):c.1176T>C (p.Tyr392=) rs1197524442
NM_006070.6(TFG):c.1178C>A (p.Thr393Asn)
NM_006070.6(TFG):c.1179C>T (p.Thr393=) rs764626833
NM_006070.6(TFG):c.1182A>G (p.Gln394=)
NM_006070.6(TFG):c.1185T>C (p.Pro395=) rs1185375387
NM_006070.6(TFG):c.1187G>A (p.Gly396Glu)
NM_006070.6(TFG):c.1199G>A (p.Arg400Gln) rs963151000
NM_006070.6(TFG):c.1199G>C (p.Arg400Pro) rs963151000
NM_006070.6(TFG):c.1202A>G (p.Ter401=)
NM_006070.6(TFG):c.133A>C (p.Arg45=)
NM_006070.6(TFG):c.160G>A (p.Val54Ile)
NM_006070.6(TFG):c.162A>C (p.Val54=)
NM_006070.6(TFG):c.166A>G (p.Ile56Val)
NM_006070.6(TFG):c.174T>C (p.Tyr58=)
NM_006070.6(TFG):c.175A>G (p.Lys59Glu)
NM_006070.6(TFG):c.17A>C (p.Asp6Ala)
NM_006070.6(TFG):c.183A>C (p.Glu61Asp)
NM_006070.6(TFG):c.184+13T>C
NM_006070.6(TFG):c.184+5G>A
NM_006070.6(TFG):c.184+6A>C
NM_006070.6(TFG):c.185-10T>A rs79631225
NM_006070.6(TFG):c.185-10T>C rs79631225
NM_006070.6(TFG):c.185-13T>C
NM_006070.6(TFG):c.185-7del rs776693527
NM_006070.6(TFG):c.194T>G (p.Leu65Arg) rs2149066367
NM_006070.6(TFG):c.196A>G (p.Ile66Val) rs2095056321
NM_006070.6(TFG):c.197T>C (p.Ile66Thr)
NM_006070.6(TFG):c.198A>G (p.Ile66Met) rs2095056339
NM_006070.6(TFG):c.219C>T (p.Asp73=) rs2149066401
NM_006070.6(TFG):c.230C>T (p.Ala77Val)
NM_006070.6(TFG):c.231A>G (p.Ala77=) rs771223027
NM_006070.6(TFG):c.237G>T (p.Gln79His) rs1173009495
NM_006070.6(TFG):c.24T>C (p.Ser8=) rs1553699512
NM_006070.6(TFG):c.254A>C (p.Lys85Thr)
NM_006070.6(TFG):c.258G>A (p.Leu86=)
NM_006070.6(TFG):c.261A>G (p.Thr87=) rs2149066459
NM_006070.6(TFG):c.264A>G (p.Leu88=)
NM_006070.6(TFG):c.268+12A>G rs2149066494
NM_006070.6(TFG):c.268+18del
NM_006070.6(TFG):c.268+7A>G
NM_006070.6(TFG):c.268+8G>A rs1227137986
NM_006070.6(TFG):c.269-13G>A
NM_006070.6(TFG):c.276C>T (p.Gly92=)
NM_006070.6(TFG):c.280C>A (p.Pro94Thr)
NM_006070.6(TFG):c.288C>G (p.Pro96=) rs1180461235
NM_006070.6(TFG):c.290T>A (p.Leu97His) rs1576366321
NM_006070.6(TFG):c.303G>A (p.Gln101=)
NM_006070.6(TFG):c.303G>C (p.Gln101His) rs746086227
NM_006070.6(TFG):c.320G>A (p.Arg107Gln)
NM_006070.6(TFG):c.324A>G (p.Glu108=)
NM_006070.6(TFG):c.325C>T (p.Leu109=)
NM_006070.6(TFG):c.330A>G (p.Ile110Met)
NM_006070.6(TFG):c.332A>C (p.Glu111Ala)
NM_006070.6(TFG):c.338G>T (p.Arg113Leu)
NM_006070.6(TFG):c.33A>T (p.Leu11=)
NM_006070.6(TFG):c.341A>G (p.Asn114Ser) rs752292956
NM_006070.6(TFG):c.348G>C (p.Val116=) rs1576366448
NM_006070.6(TFG):c.34A>G (p.Ile12Val) rs2149057606
NM_006070.6(TFG):c.352C>T (p.Arg118Cys)
NM_006070.6(TFG):c.353G>A (p.Arg118His) rs376804190
NM_006070.6(TFG):c.361G>A (p.Asp121Asn)
NM_006070.6(TFG):c.361G>T (p.Asp121Tyr) rs907540820
NM_006070.6(TFG):c.373C>T (p.Pro125Ser) rs746234370
NM_006070.6(TFG):c.37A>G (p.Ile13Val) rs200695895
NM_006070.6(TFG):c.403A>G (p.Ile135Val)
NM_006070.6(TFG):c.415+12del rs765751527
NM_006070.6(TFG):c.415+18T>G rs752417508
NM_006070.6(TFG):c.415+8del rs2149078273
NM_006070.6(TFG):c.416-12C>G rs2149082632
NM_006070.6(TFG):c.416-4A>G
NM_006070.6(TFG):c.416-8T>A rs1321102960
NM_006070.6(TFG):c.417T>C (p.Asp139=)
NM_006070.6(TFG):c.432G>A (p.Arg144=)
NM_006070.6(TFG):c.467A>G (p.Gln156Arg) rs1244307042
NM_006070.6(TFG):c.478del (p.Val160fs) rs2149082751
NM_006070.6(TFG):c.483G>A (p.Met161Ile) rs750964585
NM_006070.6(TFG):c.489A>G (p.Ala163=)
NM_006070.6(TFG):c.504T>C (p.Phe168=)
NM_006070.6(TFG):c.514A>G (p.Lys172Glu) rs2149082817
NM_006070.6(TFG):c.518A>G (p.Asn173Ser)
NM_006070.6(TFG):c.524A>G (p.Asp175Gly)
NM_006070.6(TFG):c.531C>T (p.Ile177=) rs766735962
NM_006070.6(TFG):c.533A>G (p.Asn178Ser)
NM_006070.6(TFG):c.53G>C (p.Gly18Ala)
NM_006070.6(TFG):c.541_543del (p.Val181del)
NM_006070.6(TFG):c.552G>C (p.Ala184=)
NM_006070.6(TFG):c.556G>A (p.Gly186Ser) rs867024898
NM_006070.6(TFG):c.565G>A (p.Asp189Asn)
NM_006070.6(TFG):c.567T>A (p.Asp189Glu) rs370447670
NM_006070.6(TFG):c.57G>A (p.Glu19=) rs1576353054
NM_006070.6(TFG):c.580+14del
NM_006070.6(TFG):c.580+16A>G
NM_006070.6(TFG):c.580+19C>T
NM_006070.6(TFG):c.581-10G>T
NM_006070.6(TFG):c.581-11dup
NM_006070.6(TFG):c.581-14_581-11del
NM_006070.6(TFG):c.581-24_581-9del
NM_006070.6(TFG):c.581-8C>G
NM_006070.6(TFG):c.585A>C (p.Pro195=)
NM_006070.6(TFG):c.588C>T (p.Pro196=) rs2149087481
NM_006070.6(TFG):c.597T>C (p.Pro199=)
NM_006070.6(TFG):c.600A>G (p.Ala200=)
NM_006070.6(TFG):c.61A>G (p.Ile21Val)
NM_006070.6(TFG):c.61A>T (p.Ile21Phe) rs377136610
NM_006070.6(TFG):c.621C>G (p.Pro207=) rs141786985
NM_006070.6(TFG):c.622G>A (p.Asp208Asn) rs34112649
NM_006070.6(TFG):c.636C>T (p.Ser212=)
NM_006070.6(TFG):c.638C>G (p.Ser213Cys) rs2095107235
NM_006070.6(TFG):c.641C>G (p.Ser214Cys)
NM_006070.6(TFG):c.641C>T (p.Ser214Phe)
NM_006070.6(TFG):c.663C>T (p.Gly221=) rs140669729
NM_006070.6(TFG):c.672A>C (p.Pro224=) rs141412018
NM_006070.6(TFG):c.684A>G (p.Pro228=)
NM_006070.6(TFG):c.689C>A (p.Thr230Lys)
NM_006070.6(TFG):c.689C>T (p.Thr230Ile)
NM_006070.6(TFG):c.700A>G (p.Thr234Ala)
NM_006070.6(TFG):c.701C>T (p.Thr234Ile)
NM_006070.6(TFG):c.709G>A (p.Gly237Ser)
NM_006070.6(TFG):c.715A>G (p.Ile239Val)
NM_006070.6(TFG):c.721+14T>C
NM_006070.6(TFG):c.721+14del rs1005708219
NM_006070.6(TFG):c.721+19C>T rs1361371990
NM_006070.6(TFG):c.721+20A>T
NM_006070.6(TFG):c.722-10G>C
NM_006070.6(TFG):c.722-25TG[5]
NM_006070.6(TFG):c.722-25TG[6]
NM_006070.6(TFG):c.722-5_722-4dup rs1242696461
NM_006070.6(TFG):c.722-8G>A
NM_006070.6(TFG):c.729G>A (p.Met243Ile)
NM_006070.6(TFG):c.740A>G (p.Tyr247Cys) rs1559723912
NM_006070.6(TFG):c.741C>T (p.Tyr247=) rs1576379547
NM_006070.6(TFG):c.743A>G (p.Gln248Arg) rs1576379554
NM_006070.6(TFG):c.758A>G (p.Tyr253Cys)
NM_006070.6(TFG):c.766C>A (p.Gln256Lys)
NM_006070.6(TFG):c.774G>A (p.Pro258=) rs1367793822
NM_006070.6(TFG):c.774G>C (p.Pro258=)
NM_006070.6(TFG):c.776A>G (p.Gln259Arg) rs891678936
NM_006070.6(TFG):c.781C>G (p.Pro261Ala)
NM_006070.6(TFG):c.783A>G (p.Pro261=)
NM_006070.6(TFG):c.792G>T (p.Gln264His) rs1576379647
NM_006070.6(TFG):c.796C>G (p.Gln266Glu)
NM_006070.6(TFG):c.808A>C (p.Ile270Leu)
NM_006070.6(TFG):c.80A>G (p.His27Arg)
NM_006070.6(TFG):c.820+15_820+19del
NM_006070.6(TFG):c.820+18G>A
NM_006070.6(TFG):c.820+19G>C
NM_006070.6(TFG):c.820+8G>A rs2149096879
NM_006070.6(TFG):c.821-18T>C rs756950367
NM_006070.6(TFG):c.821-18_821-16del rs2149105617
NM_006070.6(TFG):c.821-20T>A rs2149105586
NM_006070.6(TFG):c.821-5T>C rs2149105737
NM_006070.6(TFG):c.826T>C (p.Tyr276His) rs1559726842
NM_006070.6(TFG):c.827A>G (p.Tyr276Cys)
NM_006070.6(TFG):c.830G>A (p.Ser277Asn)
NM_006070.6(TFG):c.833A>C (p.Gln278Pro)
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006070.6(TFG):c.870A>G (p.Gly290=) rs2095153634
NM_006070.6(TFG):c.870A>T (p.Gly290=)
NM_006070.6(TFG):c.874G>A (p.Gly292Ser) rs1053918783
NM_006070.6(TFG):c.875G>C (p.Gly292Ala)
NM_006070.6(TFG):c.880C>A (p.Gln294Lys)
NM_006070.6(TFG):c.889del (p.Ser297fs)
NM_006070.6(TFG):c.898C>A (p.Pro300Thr) rs1210008384
NM_006070.6(TFG):c.898C>T (p.Pro300Ser) rs1210008384
NM_006070.6(TFG):c.908C>T (p.Ala303Val) rs1576389064
NM_006070.6(TFG):c.923C>G (p.Pro308Arg) rs2149106095
NM_006070.6(TFG):c.923C>T (p.Pro308Leu)
NM_006070.6(TFG):c.925C>G (p.Gln309Glu)
NM_006070.6(TFG):c.927A>G (p.Gln309=)
NM_006070.6(TFG):c.928C>A (p.Gln310Lys)
NM_006070.6(TFG):c.933G>T (p.Leu311=) rs2149106140
NM_006070.6(TFG):c.939T>C (p.Ala313=)
NM_006070.6(TFG):c.943C>T (p.Pro315Ser) rs1553704852
NM_006070.6(TFG):c.954G>A (p.Gln318=)
NM_006070.6(TFG):c.960G>T (p.Gln320His)
NM_006070.6(TFG):c.962C>G (p.Ala321Gly)
NM_006070.6(TFG):c.968A>G (p.Asn323Ser)
NM_006070.6(TFG):c.976G>T (p.Ala326Ser) rs776620173
NM_006070.6(TFG):c.97T>C (p.Tyr33His) rs2095037556
NM_006070.6(TFG):c.980A>G (p.Gln327Arg) rs1431898500
NM_006070.6(TFG):c.986A>C (p.Tyr329Ser)
NM_006070.6(TFG):c.986dup (p.Tyr329Ter) rs2095154725
NM_006070.6(TFG):c.987C>T (p.Tyr329=) rs1362903359
NM_006070.6(TFG):c.98A>G (p.Tyr33Cys) rs763523148
NM_006070.6(TFG):c.993C>G (p.Ala331=)
NM_006070.6(TFG):c.993C>T (p.Ala331=) rs1490621305
NM_006070.6(TFG):c.99T>A (p.Tyr33Ter)
NM_006070.6(TFG):c.99T>C (p.Tyr33=)
NM_006070.6(TFG):c.9_10delinsGA (p.Gln4Lys) rs2095037361
NM_006612.6(KIF1C):c.1005T>G (p.Thr335=) rs763806162
NM_006612.6(KIF1C):c.1009A>G (p.Ser337Gly)
NM_006612.6(KIF1C):c.1019+5G>A
NM_006612.6(KIF1C):c.1020-16C>T
NM_006612.6(KIF1C):c.1020-4C>T
NM_006612.6(KIF1C):c.1029C>T (p.Asp343=)
NM_006612.6(KIF1C):c.106+15G>A
NM_006612.6(KIF1C):c.1062C>G (p.Ile354Met)
NM_006612.6(KIF1C):c.107-16C>T
NM_006612.6(KIF1C):c.107-5C>T rs2143306363
NM_006612.6(KIF1C):c.107-7C>T
NM_006612.6(KIF1C):c.1079C>A (p.Ala360Asp)
NM_006612.6(KIF1C):c.109A>G (p.Ile37Val)
NM_006612.6(KIF1C):c.10G>T (p.Ala4Ser)
NM_006612.6(KIF1C):c.1104G>A (p.Glu368=) rs1373839678
NM_006612.6(KIF1C):c.1131G>C (p.Leu377=)
NM_006612.6(KIF1C):c.1134G>A (p.Met378Ile)
NM_006612.6(KIF1C):c.1140G>C (p.Gln380His)
NM_006612.6(KIF1C):c.114C>T (p.Ile38=) rs377337240
NM_006612.6(KIF1C):c.1165+12A>G
NM_006612.6(KIF1C):c.1165+16A>T rs2143325151
NM_006612.6(KIF1C):c.1165+17G>C
NM_006612.6(KIF1C):c.1166-19T>C
NM_006612.6(KIF1C):c.1176G>A (p.Thr392=)
NM_006612.6(KIF1C):c.1179A>G (p.Glu393=)
NM_006612.6(KIF1C):c.1189G>A (p.Val397Ile)
NM_006612.6(KIF1C):c.1200C>T (p.Ala400=)
NM_006612.6(KIF1C):c.1223C>A (p.Pro408Gln)
NM_006612.6(KIF1C):c.1238C>T (p.Pro413Leu)
NM_006612.6(KIF1C):c.1239C>G (p.Pro413=) rs2143331394
NM_006612.6(KIF1C):c.1267C>G (p.Leu423Val)
NM_006612.6(KIF1C):c.1274C>T (p.Pro425Leu)
NM_006612.6(KIF1C):c.1275G>A (p.Pro425=)
NM_006612.6(KIF1C):c.1277C>T (p.Ser426Leu) rs2143331530
NM_006612.6(KIF1C):c.1302G>C (p.Gln434His) rs144939400
NM_006612.6(KIF1C):c.1302G>T (p.Gln434His)
NM_006612.6(KIF1C):c.1323G>T (p.Met441Ile) rs1567722733
NM_006612.6(KIF1C):c.1335+11G>A
NM_006612.6(KIF1C):c.1336-18C>T
NM_006612.6(KIF1C):c.1336-3C>T
NM_006612.6(KIF1C):c.1356T>C (p.Ala452=) rs781761447
NM_006612.6(KIF1C):c.1396_1397del (p.Glu466fs)
NM_006612.6(KIF1C):c.1415+12G>A
NM_006612.6(KIF1C):c.1415+18T>G
NM_006612.6(KIF1C):c.1415+8G>T
NM_006612.6(KIF1C):c.1416-11T>C
NM_006612.6(KIF1C):c.1428G>A (p.Leu476=)
NM_006612.6(KIF1C):c.1449C>T (p.Val483=)
NM_006612.6(KIF1C):c.1487A>G (p.Lys496Arg)
NM_006612.6(KIF1C):c.1491+14C>T
NM_006612.6(KIF1C):c.1491+18C>T
NM_006612.6(KIF1C):c.1491+19G>A
NM_006612.6(KIF1C):c.1491+2T>C
NM_006612.6(KIF1C):c.1492-14C>T
NM_006612.6(KIF1C):c.1492-19C>T
NM_006612.6(KIF1C):c.1492-7C>T
NM_006612.6(KIF1C):c.152C>T (p.Thr51Ile) rs771071450
NM_006612.6(KIF1C):c.1545C>T (p.Leu515=)
NM_006612.6(KIF1C):c.1571+16C>T
NM_006612.6(KIF1C):c.1571+17G>A
NM_006612.6(KIF1C):c.1571+20C>A
NM_006612.6(KIF1C):c.1571+8G>T
NM_006612.6(KIF1C):c.1571+9T>C
NM_006612.6(KIF1C):c.1598A>G (p.Lys533Arg)
NM_006612.6(KIF1C):c.15G>A (p.Ser5=)
NM_006612.6(KIF1C):c.1618C>T (p.Arg540Trp)
NM_006612.6(KIF1C):c.1619G>A (p.Arg540Gln) rs1013580197
NM_006612.6(KIF1C):c.1623G>A (p.Glu541=)
NM_006612.6(KIF1C):c.162C>T (p.Tyr54=)
NM_006612.6(KIF1C):c.1640G>A (p.Arg547Gln) rs764242002
NM_006612.6(KIF1C):c.1640G>T (p.Arg547Leu)
NM_006612.6(KIF1C):c.1666+13G>C
NM_006612.6(KIF1C):c.1666+15G>A
NM_006612.6(KIF1C):c.1666+18GA[2]
NM_006612.6(KIF1C):c.1666+9T>C
NM_006612.6(KIF1C):c.1667-12C>T
NM_006612.6(KIF1C):c.1667-8C>G
NM_006612.6(KIF1C):c.1727C>T (p.Thr576Met)
NM_006612.6(KIF1C):c.1741C>T (p.Leu581=)
NM_006612.6(KIF1C):c.1750+6_1750+8del rs551276433
NM_006612.6(KIF1C):c.1750G>A (p.Gly584Arg)
NM_006612.6(KIF1C):c.1751-12_1751-10del rs756711554
NM_006612.6(KIF1C):c.1767G>A (p.Met589Ile)
NM_006612.6(KIF1C):c.1779C>T (p.His593=)
NM_006612.6(KIF1C):c.177C>T (p.His59=)
NM_006612.6(KIF1C):c.1800G>A (p.Pro600=)
NM_006612.6(KIF1C):c.1819C>T (p.Arg607Trp)
NM_006612.6(KIF1C):c.183+20dup
NM_006612.6(KIF1C):c.1836C>T (p.Pro612=)
NM_006612.6(KIF1C):c.184-13C>A
NM_006612.6(KIF1C):c.184-13C>T
NM_006612.6(KIF1C):c.1851G>A (p.Pro617=)
NM_006612.6(KIF1C):c.1852C>T (p.Pro618Ser) rs1975068657
NM_006612.6(KIF1C):c.185C>T (p.Thr62Met)
NM_006612.6(KIF1C):c.1866C>T (p.Val622=)
NM_006612.6(KIF1C):c.1937+20G>A
NM_006612.6(KIF1C):c.1937+4C>T
NM_006612.6(KIF1C):c.1937+5G>A rs1393131804
NM_006612.6(KIF1C):c.1938-13del
NM_006612.6(KIF1C):c.1938-14C>T
NM_006612.6(KIF1C):c.1963C>T (p.Arg655Trp)
NM_006612.6(KIF1C):c.1984G>A (p.Asp662Asn)
NM_006612.6(KIF1C):c.2010+4A>C
NM_006612.6(KIF1C):c.2010+8G>A
NM_006612.6(KIF1C):c.2011-5C>T
NM_006612.6(KIF1C):c.2011-7G>A rs764606462
NM_006612.6(KIF1C):c.2048G>A (p.Arg683His)
NM_006612.6(KIF1C):c.2070G>A (p.Arg690=)
NM_006612.6(KIF1C):c.2100G>A (p.Pro700=) rs763581921
NM_006612.6(KIF1C):c.2129G>A (p.Arg710His)
NM_006612.6(KIF1C):c.2167C>T (p.Arg723Cys)
NM_006612.6(KIF1C):c.2184C>A (p.Ile728=)
NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter) rs587777197
NM_006612.6(KIF1C):c.2202G>T (p.Leu734=)
NM_006612.6(KIF1C):c.2218C>T (p.Arg740Cys)
NM_006612.6(KIF1C):c.2220C>A (p.Arg740=) rs534107875
NM_006612.6(KIF1C):c.2229C>T (p.Thr743=)
NM_006612.6(KIF1C):c.223C>T (p.Arg75Trp) rs201085674
NM_006612.6(KIF1C):c.2250G>A (p.Gln750=)
NM_006612.6(KIF1C):c.2272G>C (p.Glu758Gln)
NM_006612.6(KIF1C):c.2322G>C (p.Leu774=) rs747862350
NM_006612.6(KIF1C):c.2339G>A (p.Arg780Gln)
NM_006612.6(KIF1C):c.2370C>T (p.Asp790=)
NM_006612.6(KIF1C):c.2371G>A (p.Gly791Ser)
NM_006612.6(KIF1C):c.2382C>T (p.Asp794=)
NM_006612.6(KIF1C):c.2425G>C (p.Glu809Gln)
NM_006612.6(KIF1C):c.2434G>C (p.Gly812Arg)
NM_006612.6(KIF1C):c.2439T>C (p.Gly813=)
NM_006612.6(KIF1C):c.2468A>T (p.Glu823Val)
NM_006612.6(KIF1C):c.2476C>G (p.Arg826Gly)
NM_006612.6(KIF1C):c.2484G>A (p.Ala828=)
NM_006612.6(KIF1C):c.2508C>T (p.His836=)
NM_006612.6(KIF1C):c.2511C>T (p.Ile837=)
NM_006612.6(KIF1C):c.2512G>T (p.Asp838Tyr)
NM_006612.6(KIF1C):c.2516A>G (p.Lys839Arg)
NM_006612.6(KIF1C):c.2523G>C (p.Thr841=) rs747321053
NM_006612.6(KIF1C):c.252C>T (p.His84=)
NM_006612.6(KIF1C):c.2535G>A (p.Gln845=)
NM_006612.6(KIF1C):c.2545C>T (p.Leu849=) rs202226954
NM_006612.6(KIF1C):c.255C>G (p.Ala85=)
NM_006612.6(KIF1C):c.2566C>T (p.Arg856Trp)
NM_006612.6(KIF1C):c.2584C>T (p.Arg862Trp)
NM_006612.6(KIF1C):c.2597T>A (p.Leu866His) rs2143389526
NM_006612.6(KIF1C):c.2599C>T (p.Arg867Cys)
NM_006612.6(KIF1C):c.2600G>C (p.Arg867Pro)
NM_006612.6(KIF1C):c.2601C>T (p.Arg867=)
NM_006612.6(KIF1C):c.2628+17G>T
NM_006612.6(KIF1C):c.2646_2647delinsCC (p.Glu883Gln)
NM_006612.6(KIF1C):c.2650G>A (p.Glu884Lys) rs1297313354
NM_006612.6(KIF1C):c.2666C>T (p.Pro889Leu)
NM_006612.6(KIF1C):c.270C>T (p.Asn90=) rs535190367
NM_006612.6(KIF1C):c.271G>A (p.Val91Met)
NM_006612.6(KIF1C):c.2726C>A (p.Pro909Gln) rs78970955
NM_006612.6(KIF1C):c.2737C>T (p.Pro913Ser)
NM_006612.6(KIF1C):c.2740C>T (p.Pro914Ser) rs2143392621
NM_006612.6(KIF1C):c.2745G>A (p.Ser915=)
NM_006612.6(KIF1C):c.2748_2749delinsGA (p.Pro917Thr) rs1555571945
NM_006612.6(KIF1C):c.2781C>T (p.Leu927=)
NM_006612.6(KIF1C):c.2833G>A (p.Glu945Lys)
NM_006612.6(KIF1C):c.2847G>T (p.Leu949=)
NM_006612.6(KIF1C):c.2853_2861del (p.949LQG[1])
NM_006612.6(KIF1C):c.2872C>T (p.Arg958Trp)
NM_006612.6(KIF1C):c.2878G>C (p.Gly960Arg)
NM_006612.6(KIF1C):c.2880G>A (p.Gly960=)
NM_006612.6(KIF1C):c.2883G>C (p.Gly961=)
NM_006612.6(KIF1C):c.2902C>A (p.Arg968Ser)
NM_006612.6(KIF1C):c.2908G>A (p.Val970Met)
NM_006612.6(KIF1C):c.2911C>A (p.Pro971Thr)
NM_006612.6(KIF1C):c.2913C>T (p.Pro971=) rs1975145101
NM_006612.6(KIF1C):c.2919C>T (p.His973=)
NM_006612.6(KIF1C):c.2934C>G (p.Arg978=)
NM_006612.6(KIF1C):c.2951A>C (p.Asn984Thr) rs372031774
NM_006612.6(KIF1C):c.2961C>G (p.His987Gln) rs1975146105
NM_006612.6(KIF1C):c.2963G>A (p.Arg988Gln)
NM_006612.6(KIF1C):c.297C>T (p.Thr99=)
NM_006612.6(KIF1C):c.2988C>T (p.Ser996=)
NM_006612.6(KIF1C):c.3024G>A (p.Glu1008=)
NM_006612.6(KIF1C):c.3027C>G (p.Val1009=)
NM_006612.6(KIF1C):c.3049G>T (p.Ala1017Ser)
NM_006612.6(KIF1C):c.3050C>T (p.Ala1017Val) rs2143394246
NM_006612.6(KIF1C):c.3052C>T (p.Arg1018Cys)
NM_006612.6(KIF1C):c.3071G>C (p.Arg1024Pro)
NM_006612.6(KIF1C):c.3082C>T (p.His1028Tyr)
NM_006612.6(KIF1C):c.3084T>C (p.His1028=)
NM_006612.6(KIF1C):c.3086C>T (p.Pro1029Leu)
NM_006612.6(KIF1C):c.3089G>A (p.Arg1030His)
NM_006612.6(KIF1C):c.3090C>T (p.Arg1030=)
NM_006612.6(KIF1C):c.3116G>A (p.Arg1039Gln)
NM_006612.6(KIF1C):c.311C>T (p.Ser104Phe) rs572156268
NM_006612.6(KIF1C):c.3120C>T (p.Ser1040=)
NM_006612.6(KIF1C):c.3127G>A (p.Ala1043Thr) rs1199087791
NM_006612.6(KIF1C):c.3129G>A (p.Ala1043=)
NM_006612.6(KIF1C):c.3129G>C (p.Ala1043=)
NM_006612.6(KIF1C):c.3140A>G (p.Gln1047Arg) rs1240123302
NM_006612.6(KIF1C):c.318C>A (p.Thr106=)
NM_006612.6(KIF1C):c.3219C>T (p.Pro1073=)
NM_006612.6(KIF1C):c.3229C>T (p.Arg1077Cys)
NM_006612.6(KIF1C):c.3237C>T (p.Pro1079=)
NM_006612.6(KIF1C):c.3239C>G (p.Pro1080Arg)
NM_006612.6(KIF1C):c.3239del (p.Pro1080fs) rs753993722
NM_006612.6(KIF1C):c.3252C>T (p.Pro1084=)
NM_006612.6(KIF1C):c.3253C>T (p.Pro1085Ser)
NM_006612.6(KIF1C):c.3265C>T (p.Arg1089Trp)
NM_006612.6(KIF1C):c.328C>T (p.Arg110Ter)
NM_006612.6(KIF1C):c.3292G>A (p.Glu1098Lys) rs1975158981
NM_006612.6(KIF1C):c.334G>A (p.Glu112Lys)
NM_006612.6(KIF1C):c.355G>A (p.Val119Met)
NM_006612.6(KIF1C):c.363+18T>C
NM_006612.6(KIF1C):c.364-17C>T
NM_006612.6(KIF1C):c.364-18C>T
NM_006612.6(KIF1C):c.366C>T (p.Leu122=)
NM_006612.6(KIF1C):c.385C>T (p.Arg129Cys) rs745851014
NM_006612.6(KIF1C):c.386G>A (p.Arg129His)
NM_006612.6(KIF1C):c.399C>T (p.Asn133=)
NM_006612.6(KIF1C):c.416C>G (p.Ser139Cys)
NM_006612.6(KIF1C):c.429+15T>C
NM_006612.6(KIF1C):c.430-6A>G
NM_006612.6(KIF1C):c.450C>T (p.Tyr150=)
NM_006612.6(KIF1C):c.456G>A (p.Glu152=)
NM_006612.6(KIF1C):c.463C>G (p.Arg155Gly) rs1291871672
NM_006612.6(KIF1C):c.468C>T (p.Asp156=)
NM_006612.6(KIF1C):c.486T>C (p.Ser162=)
NM_006612.6(KIF1C):c.487C>T (p.Arg163Trp)
NM_006612.6(KIF1C):c.48C>T (p.Asn16=)
NM_006612.6(KIF1C):c.51C>T (p.Ala17=) rs958316030
NM_006612.6(KIF1C):c.534G>T (p.Val178=)
NM_006612.6(KIF1C):c.53G>A (p.Arg18His)
NM_006612.6(KIF1C):c.548A>C (p.Lys183Thr) rs1974623326
NM_006612.6(KIF1C):c.561C>T (p.Thr187=)
NM_006612.6(KIF1C):c.564C>T (p.Ser188=)
NM_006612.6(KIF1C):c.567C>T (p.Tyr189=)
NM_006612.6(KIF1C):c.588G>T (p.Met196Ile)
NM_006612.6(KIF1C):c.601_604del (p.Lys201fs) rs2143313439
NM_006612.6(KIF1C):c.608+2_608+3dup rs1597841997
NM_006612.6(KIF1C):c.608+6G>A rs2143313510
NM_006612.6(KIF1C):c.608+9G>C
NM_006612.6(KIF1C):c.608G>A (p.Arg203Gln)
NM_006612.6(KIF1C):c.609-9T>C
NM_006612.6(KIF1C):c.651C>T (p.Ser217=)
NM_006612.6(KIF1C):c.657C>A (p.Ala219=) rs372650678
NM_006612.6(KIF1C):c.657C>T (p.Ala219=)
NM_006612.6(KIF1C):c.683G>A (p.Arg228His)
NM_006612.6(KIF1C):c.702G>A (p.Thr234=)
NM_006612.6(KIF1C):c.702G>C (p.Thr234=) rs150944204
NM_006612.6(KIF1C):c.713C>T (p.Ser238Leu)
NM_006612.6(KIF1C):c.720+11C>T rs770907929
NM_006612.6(KIF1C):c.720+12C>G
NM_006612.6(KIF1C):c.720+14C>A
NM_006612.6(KIF1C):c.720+14C>G
NM_006612.6(KIF1C):c.720+15C>T
NM_006612.6(KIF1C):c.720+16C>A
NM_006612.6(KIF1C):c.720+16C>G
NM_006612.6(KIF1C):c.720+16C>T
NM_006612.6(KIF1C):c.720+18C>A rs201947256
NM_006612.6(KIF1C):c.720+18C>G
NM_006612.6(KIF1C):c.720+18_720+20del rs10533622
NM_006612.6(KIF1C):c.720+19C>G rs757513826
NM_006612.6(KIF1C):c.720+19_720+20del rs10533622
NM_006612.6(KIF1C):c.720+20C>A
NM_006612.6(KIF1C):c.720+20C>G rs201019441
NM_006612.6(KIF1C):c.720+20C>T
NM_006612.6(KIF1C):c.720+20del rs10533622
NM_006612.6(KIF1C):c.720+20dup rs10533622
NM_006612.6(KIF1C):c.721-14dup
NM_006612.6(KIF1C):c.721-18T>C
NM_006612.6(KIF1C):c.721-4C>T
NM_006612.6(KIF1C):c.726_727insCC (p.Lys243fs) rs2143317762
NM_006612.6(KIF1C):c.743A>G (p.Asp248Gly)
NM_006612.6(KIF1C):c.764C>A (p.Ala255Asp)
NM_006612.6(KIF1C):c.768C>T (p.Asp256=)
NM_006612.6(KIF1C):c.76T>C (p.Cys26Arg)
NM_006612.6(KIF1C):c.798+13C>T
NM_006612.6(KIF1C):c.798+5G>A rs1974659801
NM_006612.6(KIF1C):c.799-19A>G rs370317680
NM_006612.6(KIF1C):c.799-19A>T rs370317680
NM_006612.6(KIF1C):c.803G>C (p.Gly268Ala)
NM_006612.6(KIF1C):c.822C>G (p.Ser274=) rs1241963621
NM_006612.6(KIF1C):c.840A>G (p.Lys280=)
NM_006612.6(KIF1C):c.843G>T (p.Val281=)
NM_006612.6(KIF1C):c.850G>A (p.Ala284Thr)
NM_006612.6(KIF1C):c.852C>T (p.Ala284=)
NM_006612.6(KIF1C):c.864+17G>A
NM_006612.6(KIF1C):c.912G>A (p.Val304=)
NM_006612.6(KIF1C):c.940+7G>A
NM_006612.6(KIF1C):c.941-8A>G
NM_006612.6(KIF1C):c.953G>A (p.Arg318His)
NM_006612.6(KIF1C):c.990C>T (p.Ile330=)
NM_006612.6(KIF1C):c.992A>G (p.Asn331Ser)
NM_006702.4(PNPLA6):c.3916_3918delGAG rs532776939
NM_012073.5(CCT5):c.1006G>A (p.Ala336Thr)
NM_012073.5(CCT5):c.1009A>G (p.Thr337Ala)
NM_012073.5(CCT5):c.1024G>A (p.Val342Ile)
NM_012073.5(CCT5):c.1041G>A (p.Glu347=) rs2126514873
NM_012073.5(CCT5):c.1044C>T (p.Leu348=) rs1554011541
NM_012073.5(CCT5):c.106-12T>G
NM_012073.5(CCT5):c.1065T>C (p.Phe355=)
NM_012073.5(CCT5):c.1078C>A (p.Gln360Lys) rs368250896
NM_012073.5(CCT5):c.1153A>G (p.Ile385Val)
NM_012073.5(CCT5):c.1179+12A>G
NM_012073.5(CCT5):c.1199G>A (p.Arg400Gln)
NM_012073.5(CCT5):c.1217T>C (p.Leu406Ser)
NM_012073.5(CCT5):c.1236C>T (p.Leu412=)
NM_012073.5(CCT5):c.1248T>C (p.Asn416=)
NM_012073.5(CCT5):c.1250G>A (p.Arg417His) rs761273276
NM_012073.5(CCT5):c.1290C>T (p.Ala430=)
NM_012073.5(CCT5):c.1291C>T (p.Leu431=)
NM_012073.5(CCT5):c.1317+14G>A
NM_012073.5(CCT5):c.1317+3A>G
NM_012073.5(CCT5):c.1318-8C>A
NM_012073.5(CCT5):c.1318-8C>T rs927002228
NM_012073.5(CCT5):c.1322C>A (p.Pro441His)
NM_012073.5(CCT5):c.1336T>C (p.Tyr446His) rs1554011822
NM_012073.5(CCT5):c.1356C>T (p.Ala452=)
NM_012073.5(CCT5):c.1384C>T (p.Leu462Phe)
NM_012073.5(CCT5):c.139A>G (p.Thr47Ala)
NM_012073.5(CCT5):c.13G>A (p.Gly5Arg)
NM_012073.5(CCT5):c.1433G>A (p.Arg478Gln) rs1746055933
NM_012073.5(CCT5):c.1449G>A (p.Lys483=)
NM_012073.5(CCT5):c.1474G>A (p.Asp492Asn) rs749250007
NM_012073.5(CCT5):c.1474G>C (p.Asp492His) rs749250007
NM_012073.5(CCT5):c.1498+15C>T
NM_012073.5(CCT5):c.1498+16G>A
NM_012073.5(CCT5):c.1498+3G>A
NM_012073.5(CCT5):c.1498+9C>T
NM_012073.5(CCT5):c.1499-10T>G rs903114794
NM_012073.5(CCT5):c.1564C>G (p.Gln522Glu)
NM_012073.5(CCT5):c.1571T>C (p.Val524Ala)
NM_012073.5(CCT5):c.1623A>G (p.Glu541=) rs758936847
NM_012073.5(CCT5):c.1623dup (p.Ter542MetextTer?)
NM_012073.5(CCT5):c.166+14A>G
NM_012073.5(CCT5):c.166+18C>T
NM_012073.5(CCT5):c.166+19G>A
NM_012073.5(CCT5):c.166+7G>C rs1561044915
NM_012073.5(CCT5):c.167-13C>G
NM_012073.5(CCT5):c.167-13C>T
NM_012073.5(CCT5):c.167-16A>G
NM_012073.5(CCT5):c.18C>T (p.Thr6=)
NM_012073.5(CCT5):c.1A>G (p.Met1Val)
NM_012073.5(CCT5):c.1A>T (p.Met1Leu) rs765917279
NM_012073.5(CCT5):c.243G>T (p.Met81Ile)
NM_012073.5(CCT5):c.271A>G (p.Met91Val) rs1745593343
NM_012073.5(CCT5):c.288G>A (p.Lys96=)
NM_012073.5(CCT5):c.300T>C (p.Asp100=)
NM_012073.5(CCT5):c.318C>T (p.Thr106=) rs2126500116
NM_012073.5(CCT5):c.331+13A>G
NM_012073.5(CCT5):c.332-14T>C
NM_012073.5(CCT5):c.332-19_332-16del rs376551309
NM_012073.5(CCT5):c.334C>T (p.Leu112=)
NM_012073.5(CCT5):c.33A>G (p.Glu11=)
NM_012073.5(CCT5):c.360G>A (p.Ala120=)
NM_012073.5(CCT5):c.382A>G (p.Ile128Val)
NM_012073.5(CCT5):c.402C>T (p.Ala134=)
NM_012073.5(CCT5):c.40C>T (p.Arg14Cys)
NM_012073.5(CCT5):c.426_427inv (p.Val143Ile)
NM_012073.5(CCT5):c.433A>G (p.Ile145Val)
NM_012073.5(CCT5):c.469G>T (p.Val157Phe)
NM_012073.5(CCT5):c.472G>A (p.Asp158Asn)
NM_012073.5(CCT5):c.476T>A (p.Ile159Lys)
NM_012073.5(CCT5):c.480G>C (p.Lys160Asn)
NM_012073.5(CCT5):c.48C>T (p.Phe16=)
NM_012073.5(CCT5):c.516G>A (p.Thr172=)
NM_012073.5(CCT5):c.544C>T (p.His182Tyr)
NM_012073.5(CCT5):c.568G>A (p.Val190Met)
NM_012073.5(CCT5):c.570G>C (p.Val190=)
NM_012073.5(CCT5):c.57C>G (p.Ile19Met)
NM_012073.5(CCT5):c.602G>A (p.Arg201Gln) rs1579451817
NM_012073.5(CCT5):c.609C>T (p.Asp203=)
NM_012073.5(CCT5):c.694A>G (p.Lys232Glu)
NM_012073.5(CCT5):c.6G>A (p.Ala2=)
NM_012073.5(CCT5):c.700T>A (p.Phe234Ile)
NM_012073.5(CCT5):c.703A>G (p.Ser235Gly)
NM_012073.5(CCT5):c.723+10T>C rs754237380
NM_012073.5(CCT5):c.724-9C>T
NM_012073.5(CCT5):c.737C>T (p.Ala246Val)
NM_012073.5(CCT5):c.738G>C (p.Ala246=) rs11557649
NM_012073.5(CCT5):c.744T>G (p.Ile248Met)
NM_012073.5(CCT5):c.761C>T (p.Pro254Leu)
NM_012073.5(CCT5):c.769C>A (p.Pro257Thr)
NM_012073.5(CCT5):c.814G>A (p.Glu272Lys)
NM_012073.5(CCT5):c.85A>C (p.Met29Leu) rs773861292
NM_012073.5(CCT5):c.873+11C>G
NM_012073.5(CCT5):c.898G>A (p.Ala300Thr)
NM_012073.5(CCT5):c.924T>C (p.Asp308=)
NM_012073.5(CCT5):c.942T>A (p.Leu314=)
NM_012073.5(CCT5):c.993+10T>A rs2126513359
NM_012073.5(CCT5):c.993+15G>A
NM_012073.5(CCT5):c.994-17C>G
NM_012073.5(CCT5):c.994-5A>C
NM_012073.5(CCT5):c.99C>G (p.Ala33=)
NM_014844.4(TECPR2):c.222delG rs1567327482
NM_014844.5(TECPR2):c.1005_1084+133del
NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs) rs1359602238
NM_014844.5(TECPR2):c.102C>T (p.Ile34=)
NM_014844.5(TECPR2):c.1038G>A (p.Arg346=)
NM_014844.5(TECPR2):c.103G>A (p.Val35Met)
NM_014844.5(TECPR2):c.1062G>A (p.Arg354=)
NM_014844.5(TECPR2):c.1065T>G (p.Pro355=) rs2139721499
NM_014844.5(TECPR2):c.1071A>T (p.Gly357=)
NM_014844.5(TECPR2):c.1083del (p.Thr361_Val362insTer)
NM_014844.5(TECPR2):c.1084+11A>G
NM_014844.5(TECPR2):c.1084+13T>C
NM_014844.5(TECPR2):c.1084+15T>G
NM_014844.5(TECPR2):c.1084+20T>G
NM_014844.5(TECPR2):c.1085-12C>T
NM_014844.5(TECPR2):c.1085-14C>T
NM_014844.5(TECPR2):c.1085-4T>A rs1363586320
NM_014844.5(TECPR2):c.1085-8T>C
NM_014844.5(TECPR2):c.1085-9C>A
NM_014844.5(TECPR2):c.1110A>G (p.Gly370=) rs2139726610
NM_014844.5(TECPR2):c.1119G>A (p.Glu373=)
NM_014844.5(TECPR2):c.1131G>A (p.Val377=) rs1221063069
NM_014844.5(TECPR2):c.1137A>G (p.Gln379=)
NM_014844.5(TECPR2):c.1152del (p.Ala386fs) rs2139726694
NM_014844.5(TECPR2):c.1155G>A (p.Gly385=)
NM_014844.5(TECPR2):c.1155G>C (p.Gly385=) rs1381068013
NM_014844.5(TECPR2):c.1160_1161del (p.Thr387fs) rs1213755599
NM_014844.5(TECPR2):c.1167T>A (p.Ser389=)
NM_014844.5(TECPR2):c.1179C>G (p.Leu393=) rs2139726768
NM_014844.5(TECPR2):c.117G>C (p.Thr39=)
NM_014844.5(TECPR2):c.117G>T (p.Thr39=)
NM_014844.5(TECPR2):c.1182A>G (p.Arg394=) rs2139726775
NM_014844.5(TECPR2):c.1191del (p.Met398fs)
NM_014844.5(TECPR2):c.1197C>T (p.Ala399=)
NM_014844.5(TECPR2):c.1200C>T (p.Ser400=)
NM_014844.5(TECPR2):c.120C>T (p.Ala40=) rs777258630
NM_014844.5(TECPR2):c.1216C>T (p.Pro406Ser)
NM_014844.5(TECPR2):c.1218A>C (p.Pro406=)
NM_014844.5(TECPR2):c.1227G>A (p.Arg409=) rs2139726887
NM_014844.5(TECPR2):c.1236G>T (p.Ser412=)
NM_014844.5(TECPR2):c.1239C>G (p.Leu413=)
NM_014844.5(TECPR2):c.123C>G (p.Leu41=) rs761580335
NM_014844.5(TECPR2):c.123C>T (p.Leu41=) rs761580335
NM_014844.5(TECPR2):c.1245C>T (p.Ser415=)
NM_014844.5(TECPR2):c.1251C>T (p.Asp417=) rs1889505614
NM_014844.5(TECPR2):c.1252A>G (p.Ser418Gly)
NM_014844.5(TECPR2):c.1257C>T (p.Gly419=) rs2139726956
NM_014844.5(TECPR2):c.1275T>G (p.Pro425=)
NM_014844.5(TECPR2):c.1301G>A (p.Gly434Asp)
NM_014844.5(TECPR2):c.1305G>A (p.Lys435=)
NM_014844.5(TECPR2):c.1314G>C (p.Gln438His) rs1889509080
NM_014844.5(TECPR2):c.1317C>T (p.Pro439=)
NM_014844.5(TECPR2):c.1328_1329del (p.Arg443fs)
NM_014844.5(TECPR2):c.132C>T (p.Asn44=) rs146316866
NM_014844.5(TECPR2):c.1338C>G (p.Ala446=)
NM_014844.5(TECPR2):c.1342A>G (p.Ser448Gly) rs1889511402
NM_014844.5(TECPR2):c.1346C>T (p.Ser449Leu)
NM_014844.5(TECPR2):c.1347A>C (p.Ser449=)
NM_014844.5(TECPR2):c.1350G>A (p.Glu450=) rs2139727195
NM_014844.5(TECPR2):c.1359C>T (p.Asp453=)
NM_014844.5(TECPR2):c.1360C>T (p.Gln454Ter)
NM_014844.5(TECPR2):c.1362G>A (p.Gln454=)
NM_014844.5(TECPR2):c.1368T>C (p.Leu456=) rs780996550
NM_014844.5(TECPR2):c.1371C>A (p.Val457=)
NM_014844.5(TECPR2):c.1371C>T (p.Val457=) rs1276489162
NM_014844.5(TECPR2):c.1380T>A (p.Pro460=)
NM_014844.5(TECPR2):c.1380T>C (p.Pro460=) rs2139727257
NM_014844.5(TECPR2):c.1386A>G (p.Lys462=) rs2139727263
NM_014844.5(TECPR2):c.1397AGA[4] (p.Lys470_Lys471del) rs572609303
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del) rs572609303
NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup) rs572609303
NM_014844.5(TECPR2):c.1404G>A (p.Lys468=) rs1889513531
NM_014844.5(TECPR2):c.1415C>T (p.Thr472Ile) rs370462085
NM_014844.5(TECPR2):c.1417+7T>A rs1889514290
NM_014844.5(TECPR2):c.1417+8C>G
NM_014844.5(TECPR2):c.1417+8C>T rs2139727336
NM_014844.5(TECPR2):c.1418-13T>C
NM_014844.5(TECPR2):c.1418-14T>C
NM_014844.5(TECPR2):c.1418-15C>A
NM_014844.5(TECPR2):c.1418-2A>G
NM_014844.5(TECPR2):c.141C>T (p.Tyr47=) rs992323339
NM_014844.5(TECPR2):c.1429A>C (p.Arg477=)
NM_014844.5(TECPR2):c.1431G>A (p.Arg477=)
NM_014844.5(TECPR2):c.1443C>T (p.His481=) rs2139730324
NM_014844.5(TECPR2):c.1449C>T (p.Ser483=)
NM_014844.5(TECPR2):c.1452G>T (p.Leu484=) rs1567339498
NM_014844.5(TECPR2):c.1470_1471insT (p.Glu491Ter)
NM_014844.5(TECPR2):c.1473A>G (p.Glu491=) rs2139730366
NM_014844.5(TECPR2):c.147G>A (p.Ala49=) rs1474621936
NM_014844.5(TECPR2):c.147G>T (p.Ala49=)
NM_014844.5(TECPR2):c.1492C>A (p.Gln498Lys) rs1018872661
NM_014844.5(TECPR2):c.1509C>T (p.Asp503=)
NM_014844.5(TECPR2):c.1515G>A (p.Leu505=) rs2139730436
NM_014844.5(TECPR2):c.1529_1557dup (p.Ser520delinsValSerTrpAlaValAlaTrpIleSerTer)
NM_014844.5(TECPR2):c.1534C>T (p.Leu512=) rs2139730476
NM_014844.5(TECPR2):c.1534del (p.Leu512fs)
NM_014844.5(TECPR2):c.1545C>T (p.Ser515=) rs1307288357
NM_014844.5(TECPR2):c.1560T>C (p.Ser520=) rs1194487062
NM_014844.5(TECPR2):c.1563A>G (p.Ala521=) rs2139730512
NM_014844.5(TECPR2):c.1586G>C (p.Ser529Thr) rs2139730562
NM_014844.5(TECPR2):c.158G>A (p.Ser53Asn) rs750590086
NM_014844.5(TECPR2):c.1593T>C (p.Asn531=)
NM_014844.5(TECPR2):c.15A>G (p.Ser5=)
NM_014844.5(TECPR2):c.1606G>A (p.Gly536Ser) rs186595127
NM_014844.5(TECPR2):c.1606G>C (p.Gly536Arg) rs186595127
NM_014844.5(TECPR2):c.1606G>T (p.Gly536Cys)
NM_014844.5(TECPR2):c.1610T>C (p.Val537Ala)
NM_014844.5(TECPR2):c.1617G>A (p.Gln539=)
NM_014844.5(TECPR2):c.1623T>C (p.Asn541=) rs2139730648
NM_014844.5(TECPR2):c.1626T>G (p.Thr542=)
NM_014844.5(TECPR2):c.1629C>T (p.Asp543=) rs2139730664
NM_014844.5(TECPR2):c.1647C>G (p.Val549=) rs2139730715
NM_014844.5(TECPR2):c.1651G>A (p.Glu551Lys)
NM_014844.5(TECPR2):c.1653G>A (p.Glu551=)
NM_014844.5(TECPR2):c.1666A>G (p.Met556Val) rs201791953
NM_014844.5(TECPR2):c.1695C>T (p.Asp565=) rs2139730789
NM_014844.5(TECPR2):c.1715A>G (p.His572Arg)
NM_014844.5(TECPR2):c.1715A>T (p.His572Leu)
NM_014844.5(TECPR2):c.171C>A (p.Leu57=)
NM_014844.5(TECPR2):c.171C>T (p.Leu57=)
NM_014844.5(TECPR2):c.1734G>C (p.Gly578=) rs2139730864
NM_014844.5(TECPR2):c.1735C>A (p.Arg579=) rs368473676
NM_014844.5(TECPR2):c.173A>G (p.Tyr58Cys)
NM_014844.5(TECPR2):c.1743G>A (p.Leu581=)
NM_014844.5(TECPR2):c.1743G>T (p.Leu581=)
NM_014844.5(TECPR2):c.1751del (p.Gly584fs) rs1345546964
NM_014844.5(TECPR2):c.1755G>A (p.Ala585=) rs1889603103
NM_014844.5(TECPR2):c.1755G>C (p.Ala585=) rs1889603103
NM_014844.5(TECPR2):c.1758G>A (p.Arg586=)
NM_014844.5(TECPR2):c.1761A>G (p.Glu587=)
NM_014844.5(TECPR2):c.1764T>C (p.Asp588=) rs2139730932
NM_014844.5(TECPR2):c.1779del (p.Asp593fs)
NM_014844.5(TECPR2):c.177G>C (p.Leu59=)
NM_014844.5(TECPR2):c.1782C>T (p.Val594=) rs2139730956
NM_014844.5(TECPR2):c.1785G>A (p.Thr595=) rs1367573550
NM_014844.5(TECPR2):c.1812A>C (p.Ala604=)
NM_014844.5(TECPR2):c.1818T>C (p.Asp606=) rs2139731044
NM_014844.5(TECPR2):c.1821A>G (p.Gly607=) rs2139731047
NM_014844.5(TECPR2):c.1830C>T (p.Ser610=) rs771394315
NM_014844.5(TECPR2):c.1834_1835del (p.Gln612fs) rs2139731066
NM_014844.5(TECPR2):c.183C>T (p.Cys61=)
NM_014844.5(TECPR2):c.1855del (p.Asp619fs)
NM_014844.5(TECPR2):c.1860C>T (p.Ser620=)
NM_014844.5(TECPR2):c.1869G>C (p.Gly623=) rs45605932
NM_014844.5(TECPR2):c.1872G>A (p.Ala624=) rs145129878
NM_014844.5(TECPR2):c.1872G>T (p.Ala624=) rs145129878
NM_014844.5(TECPR2):c.1878T>C (p.Asp626=) rs2139731170
NM_014844.5(TECPR2):c.1884A>G (p.Glu628=) rs2139731177
NM_014844.5(TECPR2):c.1887C>T (p.Asp629=) rs2139731186
NM_014844.5(TECPR2):c.1897A>G (p.Ile633Val)
NM_014844.5(TECPR2):c.190del (p.Leu64fs)
NM_014844.5(TECPR2):c.1913del (p.Thr638fs)
NM_014844.5(TECPR2):c.1914T>C (p.Thr638=) rs747361542
NM_014844.5(TECPR2):c.1933C>T (p.Leu645=) rs2139731305
NM_014844.5(TECPR2):c.1935G>A (p.Leu645=)
NM_014844.5(TECPR2):c.1938C>T (p.Asn646=) rs775019396
NM_014844.5(TECPR2):c.1944_1947del (p.Thr649fs) rs1595123894
NM_014844.5(TECPR2):c.1945A>G (p.Thr649Ala)
NM_014844.5(TECPR2):c.1965C>T (p.Ser655=) rs2139731355
NM_014844.5(TECPR2):c.1974A>G (p.Pro658=) rs1889612414
NM_014844.5(TECPR2):c.1978G>A (p.Ala660Thr) rs1567340028
NM_014844.5(TECPR2):c.1992G>A (p.Leu664=) rs377365529
NM_014844.5(TECPR2):c.2007T>C (p.Ala669=) rs1889613952
NM_014844.5(TECPR2):c.2007TGA[1] (p.Asp670del) rs1340395562
NM_014844.5(TECPR2):c.2025G>C (p.Val675=)
NM_014844.5(TECPR2):c.2034C>T (p.Ser678=)
NM_014844.5(TECPR2):c.2040G>A (p.Glu680=) rs768087934
NM_014844.5(TECPR2):c.2043G>A (p.Gln681=)
NM_014844.5(TECPR2):c.2076C>T (p.His692=)
NM_014844.5(TECPR2):c.207G>A (p.Lys69=) rs1887655277
NM_014844.5(TECPR2):c.2093G>A (p.Trp698Ter) rs2139731631
NM_014844.5(TECPR2):c.2100T>C (p.Ala700=) rs757538490
NM_014844.5(TECPR2):c.2101G>C (p.Val701Leu)
NM_014844.5(TECPR2):c.2124G>A (p.Gln708=)
NM_014844.5(TECPR2):c.2124G>C (p.Gln708His) rs896270875
NM_014844.5(TECPR2):c.2127A>G (p.Lys709=)
NM_014844.5(TECPR2):c.2128_2131del (p.Glu710fs) rs1889618137
NM_014844.5(TECPR2):c.2136C>A (p.Pro712=)
NM_014844.5(TECPR2):c.2136C>T (p.Pro712=)
NM_014844.5(TECPR2):c.2147G>A (p.Arg716His)
NM_014844.5(TECPR2):c.2151C>A (p.Val717=)
NM_014844.5(TECPR2):c.2152T>C (p.Leu718=)
NM_014844.5(TECPR2):c.2172G>A (p.Gln724=) rs1358533495
NM_014844.5(TECPR2):c.2175G>A (p.Leu725=) rs760581263
NM_014844.5(TECPR2):c.2175G>T (p.Leu725=)
NM_014844.5(TECPR2):c.218_219+15del rs1567314662
NM_014844.5(TECPR2):c.219+10G>A
NM_014844.5(TECPR2):c.219+8T>C
NM_014844.5(TECPR2):c.220-10G>C
NM_014844.5(TECPR2):c.220-11C>T
NM_014844.5(TECPR2):c.220-15T>A
NM_014844.5(TECPR2):c.220-2A>G
NM_014844.5(TECPR2):c.220-4C>A rs199851151
NM_014844.5(TECPR2):c.220-4C>G rs199851151
NM_014844.5(TECPR2):c.220-5C>T rs2139693219
NM_014844.5(TECPR2):c.220-8T>A rs2139693205
NM_014844.5(TECPR2):c.220-8T>C
NM_014844.5(TECPR2):c.220-9T>A
NM_014844.5(TECPR2):c.2202C>T (p.Ser734=) rs2139731839
NM_014844.5(TECPR2):c.2208C>T (p.His736=) rs767810451
NM_014844.5(TECPR2):c.2223G>A (p.Glu741=) rs2139731870
NM_014844.5(TECPR2):c.2224C>T (p.Gln742Ter)
NM_014844.5(TECPR2):c.2232A>G (p.Pro744=) rs1464300620
NM_014844.5(TECPR2):c.2232A>T (p.Pro744=)
NM_014844.5(TECPR2):c.2244A>C (p.Thr748=) rs977750461
NM_014844.5(TECPR2):c.2247G>A (p.Leu749=) rs2139731946
NM_014844.5(TECPR2):c.2249C>T (p.Thr750Met)
NM_014844.5(TECPR2):c.2256C>T (p.Ser752=) rs746712279
NM_014844.5(TECPR2):c.2259T>C (p.Asp753=) rs1889623282
NM_014844.5(TECPR2):c.2262G>A (p.Glu754=)
NM_014844.5(TECPR2):c.2265G>A (p.Glu755=)
NM_014844.5(TECPR2):c.2271C>T (p.Ile757=)
NM_014844.5(TECPR2):c.2273A>G (p.Tyr758Cys)
NM_014844.5(TECPR2):c.2283G>A (p.Gly761=)
NM_014844.5(TECPR2):c.2283_2284delinsTT (p.Leu762Phe)
NM_014844.5(TECPR2):c.2295A>C (p.Ser765=) rs760956240
NM_014844.5(TECPR2):c.2306C>T (p.Thr769Met)
NM_014844.5(TECPR2):c.2312T>A (p.Val771Glu) rs1555451565
NM_014844.5(TECPR2):c.231A>G (p.Glu77=) rs2139693258
NM_014844.5(TECPR2):c.2322C>G (p.Leu774=)
NM_014844.5(TECPR2):c.2322C>T (p.Leu774=) rs1889626955
NM_014844.5(TECPR2):c.2331T>C (p.Ser777=) rs2139732106
NM_014844.5(TECPR2):c.2349G>A (p.Leu783=)
NM_014844.5(TECPR2):c.2358G>A (p.Leu786=)
NM_014844.5(TECPR2):c.2361T>A (p.Gly787=) rs1595124379
NM_014844.5(TECPR2):c.2364A>G (p.Ala788=) rs2139732177
NM_014844.5(TECPR2):c.2367G>A (p.Glu789=) rs1347947209
NM_014844.5(TECPR2):c.2371G>A (p.Ala791Thr)
NM_014844.5(TECPR2):c.2373C>G (p.Ala791=) rs768578616
NM_014844.5(TECPR2):c.2374G>C (p.Gly792Arg)
NM_014844.5(TECPR2):c.2376G>A (p.Gly792=)
NM_014844.5(TECPR2):c.2382C>G (p.Leu794=)
NM_014844.5(TECPR2):c.2394+11T>C
NM_014844.5(TECPR2):c.2394+12C>T
NM_014844.5(TECPR2):c.2394+13G>A
NM_014844.5(TECPR2):c.2394+15G>A
NM_014844.5(TECPR2):c.2394+18G>C
NM_014844.5(TECPR2):c.2394+4T>C rs1567340516
NM_014844.5(TECPR2):c.2394+9del rs2139732248
NM_014844.5(TECPR2):c.2395-4T>C rs2139736211
NM_014844.5(TECPR2):c.2406C>T (p.Ser802=)
NM_014844.5(TECPR2):c.2415C>T (p.Gly805=) rs2139736255
NM_014844.5(TECPR2):c.2421G>A (p.Ser807=)
NM_014844.5(TECPR2):c.2434G>A (p.Gly812Ser)
NM_014844.5(TECPR2):c.243G>C (p.Val81=) rs2139693269
NM_014844.5(TECPR2):c.2442C>T (p.Leu814=) rs1227670267
NM_014844.5(TECPR2):c.2446T>C (p.Leu816=)
NM_014844.5(TECPR2):c.2451G>C (p.Val817=) rs1394036960
NM_014844.5(TECPR2):c.2457C>T (p.Ser819=) rs765475573
NM_014844.5(TECPR2):c.2460G>A (p.Glu820=)
NM_014844.5(TECPR2):c.2463G>A (p.Lys821=)
NM_014844.5(TECPR2):c.2463_2526del (p.Lys821fs)
NM_014844.5(TECPR2):c.246G>A (p.Val82=)
NM_014844.5(TECPR2):c.2476C>T (p.Leu826=)
NM_014844.5(TECPR2):c.2478G>A (p.Leu826=)
NM_014844.5(TECPR2):c.2478G>C (p.Leu826=)
NM_014844.5(TECPR2):c.2487A>G (p.Lys829=)
NM_014844.5(TECPR2):c.2496G>A (p.Leu832=)
NM_014844.5(TECPR2):c.24T>C (p.Val8=) rs1245523859
NM_014844.5(TECPR2):c.2505C>T (p.Ser835=)
NM_014844.5(TECPR2):c.2507C>T (p.Ala836Val)
NM_014844.5(TECPR2):c.2508G>A (p.Ala836=) rs1889724315
NM_014844.5(TECPR2):c.250C>T (p.Leu84=)
NM_014844.5(TECPR2):c.2513C>G (p.Pro838Arg) rs147312456
NM_014844.5(TECPR2):c.2513C>T (p.Pro838Leu)
NM_014844.5(TECPR2):c.2514G>A (p.Pro838=) rs140913653
NM_014844.5(TECPR2):c.2520C>G (p.Ala840=) rs767431269
NM_014844.5(TECPR2):c.2521G>A (p.Gly841Arg)
NM_014844.5(TECPR2):c.2524C>T (p.Leu842=)
NM_014844.5(TECPR2):c.252G>A (p.Leu84=) rs754936167
NM_014844.5(TECPR2):c.2532G>A (p.Trp844Ter)
NM_014844.5(TECPR2):c.2538G>A (p.Lys846=) rs1889726711
NM_014844.5(TECPR2):c.2554C>T (p.Gln852Ter)
NM_014844.5(TECPR2):c.2562G>A (p.Val854=) rs2139736604
NM_014844.5(TECPR2):c.2568C>T (p.Val856=)
NM_014844.5(TECPR2):c.2571G>A (p.Ser857=) rs1034879315
NM_014844.5(TECPR2):c.2578+10C>A rs1567342028
NM_014844.5(TECPR2):c.2578+10C>T rs1567342028
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[3] rs3831019
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[4] rs3831019
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[5]
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[6] rs3831019
NM_014844.5(TECPR2):c.2578+12C>G
NM_014844.5(TECPR2):c.2578+12C>T
NM_014844.5(TECPR2):c.2578+12_2578+31dup
NM_014844.5(TECPR2):c.2578+13G>A
NM_014844.5(TECPR2):c.2578+18C>T
NM_014844.5(TECPR2):c.2578+1G>A
NM_014844.5(TECPR2):c.2578+20G>C
NM_014844.5(TECPR2):c.2578+26_2578+57dup
NM_014844.5(TECPR2):c.2578+2T>C rs2139736635
NM_014844.5(TECPR2):c.2578+30_2578+42del rs3831019
NM_014844.5(TECPR2):c.2578+9C>T rs2139736658
NM_014844.5(TECPR2):c.2579-10A>G
NM_014844.5(TECPR2):c.2579-14T>G
NM_014844.5(TECPR2):c.2579-18G>T
NM_014844.5(TECPR2):c.2579-4A>G
NM_014844.5(TECPR2):c.2579-8T>C rs1567342945
NM_014844.5(TECPR2):c.2580A>C (p.Gly860=) rs2139739719
NM_014844.5(TECPR2):c.2583C>G (p.Ala861=) rs963230744
NM_014844.5(TECPR2):c.2586T>C (p.Leu862=)
NM_014844.5(TECPR2):c.2589C>A (p.Leu863=)
NM_014844.5(TECPR2):c.2598T>C (p.Ile866=) rs757127842
NM_014844.5(TECPR2):c.2599G>A (p.Glu867Lys)
NM_014844.5(TECPR2):c.2599G>T (p.Glu867Ter) rs200843101
NM_014844.5(TECPR2):c.25dup (p.Thr9fs) rs1486136461
NM_014844.5(TECPR2):c.2604G>A (p.Gln868=)
NM_014844.5(TECPR2):c.2613C>T (p.Asn871=) rs2139739770
NM_014844.5(TECPR2):c.2614C>T (p.Arg872Trp)
NM_014844.5(TECPR2):c.2617G>T (p.Ala873Ser) rs755300630
NM_014844.5(TECPR2):c.2630G>A (p.Gly877Glu)
NM_014844.5(TECPR2):c.2646G>A (p.Lys882=) rs2139739815
NM_014844.5(TECPR2):c.2649del (p.Lys884fs)
NM_014844.5(TECPR2):c.2653C>A (p.Arg885=)
NM_014844.5(TECPR2):c.2655G>A (p.Arg885=) rs200100396
NM_014844.5(TECPR2):c.2667A>G (p.Glu889=) rs2139739840
NM_014844.5(TECPR2):c.2676C>T (p.Pro892=)
NM_014844.5(TECPR2):c.2683G>A (p.Val895Met) rs764000123
NM_014844.5(TECPR2):c.2688T>C (p.Phe896=)
NM_014844.5(TECPR2):c.2709G>A (p.Thr903=) rs977517679
NM_014844.5(TECPR2):c.2709G>T (p.Thr903=) rs977517679
NM_014844.5(TECPR2):c.270C>T (p.Asp90=) rs1888687639
NM_014844.5(TECPR2):c.2712C>G (p.Ala904=)
NM_014844.5(TECPR2):c.2712C>T (p.Ala904=) rs1889801916
NM_014844.5(TECPR2):c.2718C>T (p.Ile906=) rs758523749
NM_014844.5(TECPR2):c.271C>T (p.Leu91=)
NM_014844.5(TECPR2):c.2727C>A (p.Thr909=)
NM_014844.5(TECPR2):c.2727C>T (p.Thr909=)
NM_014844.5(TECPR2):c.2733G>A (p.Gly911=) rs2139739942
NM_014844.5(TECPR2):c.2742C>T (p.Tyr914=)
NM_014844.5(TECPR2):c.2752+10G>A
NM_014844.5(TECPR2):c.2752+11G>A
NM_014844.5(TECPR2):c.2752+13C>T
NM_014844.5(TECPR2):c.2752+15C>T
NM_014844.5(TECPR2):c.2752+16G>A
NM_014844.5(TECPR2):c.2752+16G>C
NM_014844.5(TECPR2):c.2752+20dup
NM_014844.5(TECPR2):c.2752+6C>T
NM_014844.5(TECPR2):c.2753-11C>G
NM_014844.5(TECPR2):c.2753-13A>G
NM_014844.5(TECPR2):c.2753-15C>G
NM_014844.5(TECPR2):c.2753-16C>T
NM_014844.5(TECPR2):c.2753-1G>A rs1276623521
NM_014844.5(TECPR2):c.2753-20T>G
NM_014844.5(TECPR2):c.276G>A (p.Val92=)
NM_014844.5(TECPR2):c.2784C>T (p.Ala928=) rs1429128742
NM_014844.5(TECPR2):c.2787A>T (p.Val929=)
NM_014844.5(TECPR2):c.2790G>A (p.Lys930=)
NM_014844.5(TECPR2):c.2793G>A (p.Val931=) rs1424632059
NM_014844.5(TECPR2):c.279A>G (p.Ala93=) rs771084905
NM_014844.5(TECPR2):c.27A>G (p.Thr9=) rs2139656538
NM_014844.5(TECPR2):c.2802C>T (p.Pro934=) rs1304111478
NM_014844.5(TECPR2):c.2829G>A (p.Arg943=) rs149657602
NM_014844.5(TECPR2):c.2829del (p.Asn944fs) rs1889895576
NM_014844.5(TECPR2):c.282A>C (p.Ala94=)
NM_014844.5(TECPR2):c.2832C>T (p.Asn944=) rs1595129353
NM_014844.5(TECPR2):c.2841G>A (p.Val947=)
NM_014844.5(TECPR2):c.2850G>A (p.Leu950=)
NM_014844.5(TECPR2):c.2853A>T (p.Thr951=)
NM_014844.5(TECPR2):c.2868C>G (p.Leu956=)
NM_014844.5(TECPR2):c.2868C>T (p.Leu956=)
NM_014844.5(TECPR2):c.2873A>T (p.Tyr958Phe)
NM_014844.5(TECPR2):c.288A>G (p.Thr96=) rs2139693336
NM_014844.5(TECPR2):c.2895C>T (p.Phe965=)
NM_014844.5(TECPR2):c.2901G>A (p.Pro967=) rs202209194
NM_014844.5(TECPR2):c.2901G>C (p.Pro967=) rs202209194
NM_014844.5(TECPR2):c.2913G>A (p.Gln971=)
NM_014844.5(TECPR2):c.2915G>A (p.Trp972Ter) rs2139743890
NM_014844.5(TECPR2):c.2919G>A (p.Lys973=) rs2139743904
NM_014844.5(TECPR2):c.291C>T (p.Ala97=)
NM_014844.5(TECPR2):c.2928T>C (p.Ile976=) rs2139743917
NM_014844.5(TECPR2):c.2933+12C>T
NM_014844.5(TECPR2):c.2933+19C>G
NM_014844.5(TECPR2):c.2933+8C>G
NM_014844.5(TECPR2):c.2933+8C>T
NM_014844.5(TECPR2):c.2934-11C>G
NM_014844.5(TECPR2):c.2934-12C>T
NM_014844.5(TECPR2):c.2934-12_2934-10del
NM_014844.5(TECPR2):c.2934-14C>G
NM_014844.5(TECPR2):c.2934-4T>C
NM_014844.5(TECPR2):c.2934-4T>G rs2139746457
NM_014844.5(TECPR2):c.2934-7T>C
NM_014844.5(TECPR2):c.2934-9T>C rs956894657
NM_014844.5(TECPR2):c.2934C>T (p.Ser978=)
NM_014844.5(TECPR2):c.2937A>G (p.Glu979=) rs2139746472
NM_014844.5(TECPR2):c.2946T>C (p.Ala982=)
NM_014844.5(TECPR2):c.2953C>A (p.Pro985Thr) rs374430400
NM_014844.5(TECPR2):c.2953C>T (p.Pro985Ser)
NM_014844.5(TECPR2):c.2955del (p.Val986fs)
NM_014844.5(TECPR2):c.2967G>C (p.Thr989=) rs1345090533
NM_014844.5(TECPR2):c.2967G>T (p.Thr989=)
NM_014844.5(TECPR2):c.2985T>C (p.Thr995=)
NM_014844.5(TECPR2):c.2988_2989del (p.Trp997fs) rs2139746567
NM_014844.5(TECPR2):c.298A>C (p.Arg100=)
NM_014844.5(TECPR2):c.298A>G (p.Arg100Gly)
NM_014844.5(TECPR2):c.2997G>T (p.Leu999=)
NM_014844.5(TECPR2):c.3005A>G (p.His1002Arg)
NM_014844.5(TECPR2):c.300G>A (p.Arg100=) rs775773107
NM_014844.5(TECPR2):c.3015G>A (p.Leu1005=) rs1199079616
NM_014844.5(TECPR2):c.3027T>G (p.Thr1009=)
NM_014844.5(TECPR2):c.3028G>A (p.Gly1010Ser)
NM_014844.5(TECPR2):c.3051A>G (p.Gln1017=) rs1595130641
NM_014844.5(TECPR2):c.3061G>A (p.Asp1021Asn)
NM_014844.5(TECPR2):c.3063C>T (p.Asp1021=)
NM_014844.5(TECPR2):c.3066T>C (p.His1022=) rs1227747201
NM_014844.5(TECPR2):c.306A>G (p.Ala102=)
NM_014844.5(TECPR2):c.3073C>A (p.Gln1025Lys)
NM_014844.5(TECPR2):c.3075+14T>C
NM_014844.5(TECPR2):c.3075+16T>C
NM_014844.5(TECPR2):c.3075+19G>A
NM_014844.5(TECPR2):c.3075+1G>A
NM_014844.5(TECPR2):c.3075+2T>C
NM_014844.5(TECPR2):c.3076-11C>A
NM_014844.5(TECPR2):c.3076-13C>G
NM_014844.5(TECPR2):c.3076-13C>T
NM_014844.5(TECPR2):c.3076-17T>A
NM_014844.5(TECPR2):c.3076-18C>T
NM_014844.5(TECPR2):c.3076-8C>T
NM_014844.5(TECPR2):c.3078G>A (p.Val1026=)
NM_014844.5(TECPR2):c.3081C>T (p.Ser1027=)
NM_014844.5(TECPR2):c.3086C>T (p.Thr1029Met)
NM_014844.5(TECPR2):c.3099G>A (p.Val1033=)
NM_014844.5(TECPR2):c.3106C>T (p.Gln1036Ter)
NM_014844.5(TECPR2):c.3111C>T (p.Cys1037=) rs560017522
NM_014844.5(TECPR2):c.3125C>T (p.Thr1042Met)
NM_014844.5(TECPR2):c.3132C>A (p.Ile1044=) rs1463061657
NM_014844.5(TECPR2):c.3132C>T (p.Ile1044=) rs1463061657
NM_014844.5(TECPR2):c.3138C>G (p.Ala1046=)
NM_014844.5(TECPR2):c.3150G>A (p.Val1050=)
NM_014844.5(TECPR2):c.3153C>T (p.Ala1051=)
NM_014844.5(TECPR2):c.315A>G (p.Gln105=)
NM_014844.5(TECPR2):c.3180G>A (p.Lys1060=)
NM_014844.5(TECPR2):c.3186A>G (p.Ala1062=)
NM_014844.5(TECPR2):c.321A>G (p.Val107=) rs2139693389
NM_014844.5(TECPR2):c.3225G>A (p.Gln1075=)
NM_014844.5(TECPR2):c.3230A>C (p.Gln1077Pro)
NM_014844.5(TECPR2):c.3243C>G (p.Leu1081=)
NM_014844.5(TECPR2):c.3246_3247del (p.Val1083fs)
NM_014844.5(TECPR2):c.324T>C (p.Ser108=)
NM_014844.5(TECPR2):c.324T>G (p.Ser108=) rs2139693393
NM_014844.5(TECPR2):c.3252T>C (p.Asn1084=) rs2139751474
NM_014844.5(TECPR2):c.3259G>A (p.Gly1087Ser)
NM_014844.5(TECPR2):c.3261T>C (p.Gly1087=) rs1022446212
NM_014844.5(TECPR2):c.3264C>T (p.Val1088=)
NM_014844.5(TECPR2):c.3270C>T (p.Ile1090=) rs2139751506
NM_014844.5(TECPR2):c.3275C>G (p.Ser1092Trp)
NM_014844.5(TECPR2):c.3276G>A (p.Ser1092=)
NM_014844.5(TECPR2):c.327A>G (p.Ser109=) rs2139693401
NM_014844.5(TECPR2):c.3298G>A (p.Ala1100Thr)
NM_014844.5(TECPR2):c.3300T>C (p.Ala1100=) rs2139751557
NM_014844.5(TECPR2):c.3316+17A>G
NM_014844.5(TECPR2):c.3317-12T>G
NM_014844.5(TECPR2):c.3317-13T>C
NM_014844.5(TECPR2):c.3317-14_3317-11del
NM_014844.5(TECPR2):c.3317-15A>G
NM_014844.5(TECPR2):c.3317-20T>C
NM_014844.5(TECPR2):c.3317-6T>C
NM_014844.5(TECPR2):c.3317-8C>G rs1465356405
NM_014844.5(TECPR2):c.3318C>T (p.Gly1106=)
NM_014844.5(TECPR2):c.3326G>A (p.Trp1109Ter) rs2139752366
NM_014844.5(TECPR2):c.3336G>A (p.Val1112=)
NM_014844.5(TECPR2):c.3345T>C (p.Arg1115=)
NM_014844.5(TECPR2):c.3345T>G (p.Arg1115=) rs759253652
NM_014844.5(TECPR2):c.3348G>A (p.Gly1116=) rs1890113154
NM_014844.5(TECPR2):c.3348G>C (p.Gly1116=) rs1890113154
NM_014844.5(TECPR2):c.3360T>C (p.Ala1120=) rs774314281
NM_014844.5(TECPR2):c.3378G>T (p.Val1126=)
NM_014844.5(TECPR2):c.3387T>C (p.Ser1129=) rs761820530
NM_014844.5(TECPR2):c.3390A>T (p.Ala1130=) rs2139752492
NM_014844.5(TECPR2):c.3396C>T (p.Pro1132=)
NM_014844.5(TECPR2):c.3396del (p.Thr1133fs) rs2139752512
NM_014844.5(TECPR2):c.3398C>T (p.Thr1133Met)
NM_014844.5(TECPR2):c.3402G>A (p.Lys1134=) rs1399376307
NM_014844.5(TECPR2):c.3406+10T>C rs2139752572
NM_014844.5(TECPR2):c.3406+11C>G
NM_014844.5(TECPR2):c.3406+17C>G
NM_014844.5(TECPR2):c.3407-10C>T rs1208446956
NM_014844.5(TECPR2):c.3407-10del
NM_014844.5(TECPR2):c.3407-12C>T
NM_014844.5(TECPR2):c.3407-13C>A
NM_014844.5(TECPR2):c.3407-17A>G
NM_014844.5(TECPR2):c.3407-20A>G
NM_014844.5(TECPR2):c.3407-4G>A rs2139755012
NM_014844.5(TECPR2):c.3407-4G>T rs2139755012
NM_014844.5(TECPR2):c.3407-5T>G
NM_014844.5(TECPR2):c.3407-7T>C
NM_014844.5(TECPR2):c.3414C>T (p.Phe1138=) rs748935247
NM_014844.5(TECPR2):c.3417G>A (p.Leu1139=) rs1254280027
NM_014844.5(TECPR2):c.3417G>T (p.Leu1139=)
NM_014844.5(TECPR2):c.3435C>T (p.Ser1145=)
NM_014844.5(TECPR2):c.3441C>T (p.Asp1147=) rs1595133753
NM_014844.5(TECPR2):c.3447C>T (p.Cys1149=) rs2139755102
NM_014844.5(TECPR2):c.3450C>T (p.Ser1150=) rs772139465
NM_014844.5(TECPR2):c.3451G>A (p.Val1151Ile)
NM_014844.5(TECPR2):c.3453C>G (p.Val1151=)
NM_014844.5(TECPR2):c.3456C>T (p.Ser1152=) rs199827410
NM_014844.5(TECPR2):c.3459C>T (p.Ala1153=)
NM_014844.5(TECPR2):c.3460C>T (p.Gln1154Ter)
NM_014844.5(TECPR2):c.3465C>T (p.Ser1155=) rs75004775
NM_014844.5(TECPR2):c.3469_3470del (p.Gln1157fs) rs2139755178
NM_014844.5(TECPR2):c.3471G>A (p.Gln1157=)
NM_014844.5(TECPR2):c.3473C>T (p.Ser1158Leu)
NM_014844.5(TECPR2):c.3474G>A (p.Ser1158=) rs376646346
NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=) rs376646346
NM_014844.5(TECPR2):c.348+15T>C
NM_014844.5(TECPR2):c.348+17T>G
NM_014844.5(TECPR2):c.3480C>G (p.Pro1160=)
NM_014844.5(TECPR2):c.3480C>T (p.Pro1160=)
NM_014844.5(TECPR2):c.3483C>T (p.Ser1161=)
NM_014844.5(TECPR2):c.3486G>T (p.Thr1162=) rs747983532
NM_014844.5(TECPR2):c.3489G>A (p.Val1163=) rs2139755240
NM_014844.5(TECPR2):c.349-13C>A
NM_014844.5(TECPR2):c.349-19T>G
NM_014844.5(TECPR2):c.349-4A>G
NM_014844.5(TECPR2):c.3495G>A (p.Leu1165=) rs2139755257
NM_014844.5(TECPR2):c.3495G>T (p.Leu1165=) rs2139755257
NM_014844.5(TECPR2):c.3498T>A (p.Pro1166=) rs1595133819
NM_014844.5(TECPR2):c.34G>T (p.Glu12Ter) rs2139656549
NM_014844.5(TECPR2):c.3501C>A (p.Pro1167=)
NM_014844.5(TECPR2):c.3501C>G (p.Pro1167=)
NM_014844.5(TECPR2):c.3502G>A (p.Glu1168Lys)
NM_014844.5(TECPR2):c.3507C>A (p.Ala1169=)
NM_014844.5(TECPR2):c.351T>A (p.Leu117=)
NM_014844.5(TECPR2):c.3525C>G (p.Ala1175=) rs559134152
NM_014844.5(TECPR2):c.3526G>A (p.Ala1176Thr)
NM_014844.5(TECPR2):c.3528C>A (p.Ala1176=)
NM_014844.5(TECPR2):c.3534G>A (p.Gln1178=)
NM_014844.5(TECPR2):c.3543G>A (p.Leu1181=) rs894571102
NM_014844.5(TECPR2):c.3550C>T (p.Leu1184=)
NM_014844.5(TECPR2):c.3561C>T (p.Leu1187=)
NM_014844.5(TECPR2):c.3565C>T (p.Gln1189Ter)
NM_014844.5(TECPR2):c.3570G>A (p.Val1190=) rs1595133898
NM_014844.5(TECPR2):c.3581C>T (p.Thr1194Met)
NM_014844.5(TECPR2):c.3582G>T (p.Thr1194=)
NM_014844.5(TECPR2):c.3585C>G (p.Leu1195=)
NM_014844.5(TECPR2):c.3585C>T (p.Leu1195=) rs774384501
NM_014844.5(TECPR2):c.3594C>T (p.Ser1198=) rs2139755542
NM_014844.5(TECPR2):c.35_36del (p.Glu12fs) rs1259941860
NM_014844.5(TECPR2):c.3619_3628dup (p.Leu1210fs)
NM_014844.5(TECPR2):c.3621G>A (p.Arg1207=) rs1437180075
NM_014844.5(TECPR2):c.3630C>T (p.Leu1210=) rs2139755667
NM_014844.5(TECPR2):c.3640+14G>A
NM_014844.5(TECPR2):c.3640+14G>T
NM_014844.5(TECPR2):c.3640+8C>T
NM_014844.5(TECPR2):c.3641-10T>G rs2139771499
NM_014844.5(TECPR2):c.3641-12_3641-9del
NM_014844.5(TECPR2):c.3641-12del
NM_014844.5(TECPR2):c.3641-6C>T
NM_014844.5(TECPR2):c.3641-7_3641-4del
NM_014844.5(TECPR2):c.3641-8A>C rs775147521
NM_014844.5(TECPR2):c.3641-8A>G rs775147521
NM_014844.5(TECPR2):c.3641-8A>T rs775147521
NM_014844.5(TECPR2):c.3657A>G (p.Thr1219=) rs2139771546
NM_014844.5(TECPR2):c.3672A>C (p.Gly1224=) rs2139771578
NM_014844.5(TECPR2):c.3678G>A (p.Gln1226=)
NM_014844.5(TECPR2):c.3686G>A (p.Trp1229Ter) rs2139771589
NM_014844.5(TECPR2):c.3690C>G (p.Ala1230=)
NM_014844.5(TECPR2):c.3704G>A (p.Gly1235Asp) rs1890527067
NM_014844.5(TECPR2):c.3705T>A (p.Gly1235=)
NM_014844.5(TECPR2):c.3708A>T (p.Gly1236=) rs777191623
NM_014844.5(TECPR2):c.3709G>A (p.Val1237Ile)
NM_014844.5(TECPR2):c.3717C>T (p.Phe1239=) rs2139771655
NM_014844.5(TECPR2):c.3732G>A (p.Gln1244=)
NM_014844.5(TECPR2):c.3737_3738del (p.Leu1246fs) rs2139771682
NM_014844.5(TECPR2):c.3738C>G (p.Leu1246=)
NM_014844.5(TECPR2):c.3738C>T (p.Leu1246=)
NM_014844.5(TECPR2):c.3750C>A (p.Leu1250=) rs767100178
NM_014844.5(TECPR2):c.3750C>T (p.Leu1250=) rs767100178
NM_014844.5(TECPR2):c.3750_3763dup (p.Trp1255fs)
NM_014844.5(TECPR2):c.3759A>G (p.Pro1253=) rs1383569987
NM_014844.5(TECPR2):c.3777G>A (p.Glu1259=)
NM_014844.5(TECPR2):c.3780A>T (p.Pro1260=) rs1357421383
NM_014844.5(TECPR2):c.3783T>C (p.Pro1261=) rs2139771750
NM_014844.5(TECPR2):c.3784G>A (p.Val1262Ile) rs2139771757
NM_014844.5(TECPR2):c.3787C>A (p.Gln1263Lys)
NM_014844.5(TECPR2):c.3787del (p.Gln1263fs)
NM_014844.5(TECPR2):c.3789+19G>A
NM_014844.5(TECPR2):c.378C>T (p.His126=) rs1407686987
NM_014844.5(TECPR2):c.3790-11C>T
NM_014844.5(TECPR2):c.3790-13T>C
NM_014844.5(TECPR2):c.3790-15C>A
NM_014844.5(TECPR2):c.3790-8G>C rs772801372
NM_014844.5(TECPR2):c.3791C>A (p.Pro1264His) rs760298134
NM_014844.5(TECPR2):c.3793G>A (p.Ala1265Thr) rs140840591
NM_014844.5(TECPR2):c.3795C>G (p.Ala1265=)
NM_014844.5(TECPR2):c.3795C>T (p.Ala1265=) rs1438091716
NM_014844.5(TECPR2):c.3798G>T (p.Gly1266=) rs916782689
NM_014844.5(TECPR2):c.3816C>T (p.Val1272=)
NM_014844.5(TECPR2):c.3849G>A (p.Val1283=)
NM_014844.5(TECPR2):c.3863G>A (p.Trp1288Ter)
NM_014844.5(TECPR2):c.386G>A (p.Ser129Asn)
NM_014844.5(TECPR2):c.3876G>A (p.Val1292=) rs2139803008
NM_014844.5(TECPR2):c.3877C>A (p.Arg1293=)
NM_014844.5(TECPR2):c.387C>T (p.Ser129=)
NM_014844.5(TECPR2):c.3882C>A (p.Thr1294=)
NM_014844.5(TECPR2):c.3885G>A (p.Gly1295=)
NM_014844.5(TECPR2):c.3888C>T (p.Ile1296=)
NM_014844.5(TECPR2):c.3891C>G (p.Thr1297=)
NM_014844.5(TECPR2):c.3912C>G (p.Thr1304=) rs748689796
NM_014844.5(TECPR2):c.3915C>G (p.Ala1305=) rs746463597
NM_014844.5(TECPR2):c.3915C>T (p.Ala1305=) rs746463597
NM_014844.5(TECPR2):c.3918G>A (p.Trp1306Ter)
NM_014844.5(TECPR2):c.3921G>A (p.Glu1307=)
NM_014844.5(TECPR2):c.3927G>A (p.Val1309=)
NM_014844.5(TECPR2):c.3931+10T>C rs776100340
NM_014844.5(TECPR2):c.3931+11G>A
NM_014844.5(TECPR2):c.3931+13A>G
NM_014844.5(TECPR2):c.3931+17_3931+18del
NM_014844.5(TECPR2):c.3931+7G>A rs1475688517
NM_014844.5(TECPR2):c.3931+8C>G
NM_014844.5(TECPR2):c.3931+9del rs2139803114
NM_014844.5(TECPR2):c.3932-12G>T rs1891318411
NM_014844.5(TECPR2):c.3932-16C>T
NM_014844.5(TECPR2):c.3932-17A>C
NM_014844.5(TECPR2):c.3932-18G>A
NM_014844.5(TECPR2):c.3932-4A>C rs2139803614
NM_014844.5(TECPR2):c.3932-7C>T rs2139803612
NM_014844.5(TECPR2):c.3933G>C (p.Gly1311=)
NM_014844.5(TECPR2):c.3942del (p.Cys1315fs) rs2139803627
NM_014844.5(TECPR2):c.3945C>T (p.Cys1315=)
NM_014844.5(TECPR2):c.3946C>T (p.Gln1316Ter) rs2139803640
NM_014844.5(TECPR2):c.3948G>A (p.Gln1316=)
NM_014844.5(TECPR2):c.3953C>T (p.Ala1318Val)
NM_014844.5(TECPR2):c.3954G>A (p.Ala1318=) rs779731666
NM_014844.5(TECPR2):c.3955C>T (p.Leu1319=) rs1480455681
NM_014844.5(TECPR2):c.3957G>A (p.Leu1319=)
NM_014844.5(TECPR2):c.3969C>A (p.Thr1323=) rs562186436
NM_014844.5(TECPR2):c.396T>C (p.Ala132=) rs2139694770
NM_014844.5(TECPR2):c.4003C>T (p.Arg1335Trp)
NM_014844.5(TECPR2):c.4014C>G (p.Gly1338=) rs372319066
NM_014844.5(TECPR2):c.4020A>G (p.Thr1340=) rs2139803785
NM_014844.5(TECPR2):c.4023C>T (p.Asp1341=) rs1891323763
NM_014844.5(TECPR2):c.402T>G (p.Ala134=) rs765053622
NM_014844.5(TECPR2):c.4030C>G (p.Pro1344Ala) rs763133422
NM_014844.5(TECPR2):c.4032C>A (p.Pro1344=)
NM_014844.5(TECPR2):c.4033G>C (p.Ala1345Pro) rs77170608
NM_014844.5(TECPR2):c.4071G>A (p.Ser1357=) rs553124565
NM_014844.5(TECPR2):c.4071G>T (p.Ser1357=)
NM_014844.5(TECPR2):c.4081+11G>A
NM_014844.5(TECPR2):c.4081+12G>C
NM_014844.5(TECPR2):c.4081+17A>G
NM_014844.5(TECPR2):c.4081+18G>C
NM_014844.5(TECPR2):c.4081+8C>G rs199845217
NM_014844.5(TECPR2):c.4082-17G>C
NM_014844.5(TECPR2):c.4082-20_4082-17del
NM_014844.5(TECPR2):c.4082-3C>T
NM_014844.5(TECPR2):c.4082-6C>T
NM_014844.5(TECPR2):c.4082-8C>T rs2139804322
NM_014844.5(TECPR2):c.408C>A (p.Ser136Arg)
NM_014844.5(TECPR2):c.4095T>C (p.Asp1365=)
NM_014844.5(TECPR2):c.4101G>A (p.Leu1367=)
NM_014844.5(TECPR2):c.4113C>T (p.Gly1371=)
NM_014844.5(TECPR2):c.4116G>A (p.Pro1372=) rs777406369
NM_014844.5(TECPR2):c.4116G>T (p.Pro1372=) rs777406369
NM_014844.5(TECPR2):c.4120G>A (p.Gly1374Ser)
NM_014844.5(TECPR2):c.4128C>T (p.Leu1376=)
NM_014844.5(TECPR2):c.4135C>T (p.Arg1379Trp)
NM_014844.5(TECPR2):c.4137G>T (p.Arg1379=) rs1891342099
NM_014844.5(TECPR2):c.4152C>T (p.Phe1384=)
NM_014844.5(TECPR2):c.4155C>T (p.Ser1385=)
NM_014844.5(TECPR2):c.4161G>C (p.Ser1387=)
NM_014844.5(TECPR2):c.4161G>T (p.Ser1387=)
NM_014844.5(TECPR2):c.4164C>T (p.His1388=) rs1891343326
NM_014844.5(TECPR2):c.4165G>A (p.Gly1389Ser)
NM_014844.5(TECPR2):c.4176G>A (p.Lys1392=) rs1555455691
NM_014844.5(TECPR2):c.4185G>A (p.Gln1395=) rs2139804455
NM_014844.5(TECPR2):c.4212G>A (p.Leu1404=) rs921489533
NM_014844.5(TECPR2):c.4219G>A (p.Glu1407Lys)
NM_014844.5(TECPR2):c.423A>G (p.Lys141=) rs756199626
NM_014844.5(TECPR2):c.424T>C (p.Leu142=)
NM_014844.5(TECPR2):c.426G>A (p.Leu142=)
NM_014844.5(TECPR2):c.432T>C (p.Ser144=) rs2139694801
NM_014844.5(TECPR2):c.438T>C (p.Asp146=) rs1888728941
NM_014844.5(TECPR2):c.453T>A (p.Ile151=) rs1270647111
NM_014844.5(TECPR2):c.459T>C (p.Tyr153=) rs2139694818
NM_014844.5(TECPR2):c.45G>C (p.Pro15=)
NM_014844.5(TECPR2):c.480+13T>C
NM_014844.5(TECPR2):c.480+14C>T
NM_014844.5(TECPR2):c.480+16G>A
NM_014844.5(TECPR2):c.480+17A>G
NM_014844.5(TECPR2):c.480+7T>G
NM_014844.5(TECPR2):c.480+8del
NM_014844.5(TECPR2):c.481-10dup
NM_014844.5(TECPR2):c.481-13C>T
NM_014844.5(TECPR2):c.481-15G>A
NM_014844.5(TECPR2):c.481-17C>G
NM_014844.5(TECPR2):c.481-17C>T
NM_014844.5(TECPR2):c.483G>A (p.Gly161=) rs1192587017
NM_014844.5(TECPR2):c.486C>G (p.Leu162=) rs2139702828
NM_014844.5(TECPR2):c.501G>C (p.Leu167=)
NM_014844.5(TECPR2):c.505T>C (p.Leu169=)
NM_014844.5(TECPR2):c.51C>G (p.Tyr17Ter)
NM_014844.5(TECPR2):c.523A>G (p.Ile175Val) rs914763987
NM_014844.5(TECPR2):c.524T>C (p.Ile175Thr)
NM_014844.5(TECPR2):c.540T>C (p.Tyr180=) rs2139702888
NM_014844.5(TECPR2):c.549A>G (p.Lys183=)
NM_014844.5(TECPR2):c.555G>T (p.Leu185=)
NM_014844.5(TECPR2):c.556C>T (p.Leu186=) rs2139702903
NM_014844.5(TECPR2):c.55CTC[1] (p.Leu20del) rs762675550
NM_014844.5(TECPR2):c.561C>T (p.Val187=)
NM_014844.5(TECPR2):c.570G>T (p.Leu190=) rs1888974281
NM_014844.5(TECPR2):c.57C>T (p.Leu19=) rs760381261
NM_014844.5(TECPR2):c.638+10A>C
NM_014844.5(TECPR2):c.639-13C>A
NM_014844.5(TECPR2):c.639-20T>C
NM_014844.5(TECPR2):c.639-6T>C rs1555450579
NM_014844.5(TECPR2):c.642T>G (p.Thr214=) rs2139715874
NM_014844.5(TECPR2):c.645G>A (p.Gly215=)
NM_014844.5(TECPR2):c.645G>C (p.Gly215=) rs1280516450
NM_014844.5(TECPR2):c.675C>A (p.Leu225=) rs2139715937
NM_014844.5(TECPR2):c.675_676del (p.Leu225_Cys226insTer) rs2139715925
NM_014844.5(TECPR2):c.678T>C (p.Cys226=)
NM_014844.5(TECPR2):c.681G>A (p.Lys227=) rs2139715954
NM_014844.5(TECPR2):c.684A>G (p.Gln228=)
NM_014844.5(TECPR2):c.697T>C (p.Leu233=)
NM_014844.5(TECPR2):c.702T>C (p.Tyr234=)
NM_014844.5(TECPR2):c.705G>C (p.Ala235=) rs368826416
NM_014844.5(TECPR2):c.705G>T (p.Ala235=) rs368826416
NM_014844.5(TECPR2):c.711G>T (p.Arg237=)
NM_014844.5(TECPR2):c.716G>T (p.Gly239Val)
NM_014844.5(TECPR2):c.720C>G (p.Leu240=) rs2139716033
NM_014844.5(TECPR2):c.721C>T (p.Arg241Trp)
NM_014844.5(TECPR2):c.723G>A (p.Arg241=) rs1394884840
NM_014844.5(TECPR2):c.726A>G (p.Leu242=) rs748794723
NM_014844.5(TECPR2):c.726A>T (p.Leu242=) rs748794723
NM_014844.5(TECPR2):c.728G>A (p.Trp243Ter) rs2139716064
NM_014844.5(TECPR2):c.735T>A (p.Ala245=) rs1448492969
NM_014844.5(TECPR2):c.738T>C (p.Asp246=)
NM_014844.5(TECPR2):c.741C>T (p.Val247=) rs551933071
NM_014844.5(TECPR2):c.747G>A (p.Gly249=)
NM_014844.5(TECPR2):c.747G>C (p.Gly249=) rs773137265
NM_014844.5(TECPR2):c.750T>C (p.Thr250=)
NM_014844.5(TECPR2):c.753T>G (p.Val251=) rs2139716109
NM_014844.5(TECPR2):c.759C>T (p.Ala253=)
NM_014844.5(TECPR2):c.762G>T (p.Thr254=)
NM_014844.5(TECPR2):c.774del (p.Asp259fs) rs772483312
NM_014844.5(TECPR2):c.783T>G (p.Phe261Leu)
NM_014844.5(TECPR2):c.787G>A (p.Gly263Arg)
NM_014844.5(TECPR2):c.789G>A (p.Gly263=)
NM_014844.5(TECPR2):c.789G>C (p.Gly263=)
NM_014844.5(TECPR2):c.795C>T (p.Val265=)
NM_014844.5(TECPR2):c.810G>A (p.Leu270=) rs1172065446
NM_014844.5(TECPR2):c.813C>T (p.His271=) rs1889281641
NM_014844.5(TECPR2):c.834C>T (p.Asn278=) rs2139716289
NM_014844.5(TECPR2):c.850T>C (p.Leu284=)
NM_014844.5(TECPR2):c.852A>G (p.Leu284=) rs1889283384
NM_014844.5(TECPR2):c.861G>A (p.Arg287=)
NM_014844.5(TECPR2):c.865C>T (p.Leu289=) rs1889283815
NM_014844.5(TECPR2):c.870G>T (p.Gly290=)
NM_014844.5(TECPR2):c.873T>A (p.Leu291=)
NM_014844.5(TECPR2):c.874G>A (p.Val292Ile)
NM_014844.5(TECPR2):c.876T>G (p.Val292=)
NM_014844.5(TECPR2):c.877del (p.Ser293fs) rs2139716373
NM_014844.5(TECPR2):c.897C>G (p.Gly299=)
NM_014844.5(TECPR2):c.90T>G (p.Gly30=)
NM_014844.5(TECPR2):c.916G>A (p.Glu306Lys)
NM_014844.5(TECPR2):c.937G>C (p.Asp313His)
NM_014844.5(TECPR2):c.939C>T (p.Asp313=) rs2139716498
NM_014844.5(TECPR2):c.941_942del (p.Thr314fs)
NM_014844.5(TECPR2):c.945C>A (p.Val315=)
NM_014844.5(TECPR2):c.945C>G (p.Val315=)
NM_014844.5(TECPR2):c.951+12_951+15del
NM_014844.5(TECPR2):c.951+14C>T
NM_014844.5(TECPR2):c.951+15G>A rs12587242
NM_014844.5(TECPR2):c.951+18A>T
NM_014844.5(TECPR2):c.951+1G>C
NM_014844.5(TECPR2):c.951+20C>T
NM_014844.5(TECPR2):c.952-13_952-6del
NM_014844.5(TECPR2):c.952-14T>G
NM_014844.5(TECPR2):c.952-15T>G
NM_014844.5(TECPR2):c.952-15_952-14insG
NM_014844.5(TECPR2):c.952-16T>G
NM_014844.5(TECPR2):c.952-16_952-15insG
NM_014844.5(TECPR2):c.952-17T>G
NM_014844.5(TECPR2):c.952-17_952-6del
NM_014844.5(TECPR2):c.952-18_952-6del
NM_014844.5(TECPR2):c.952-19T>G
NM_014844.5(TECPR2):c.952-19_952-18insG
NM_014844.5(TECPR2):c.952-20_952-19insG
NM_014844.5(TECPR2):c.952-28G>T
NM_014844.5(TECPR2):c.952-4A>G
NM_014844.5(TECPR2):c.952-4del
NM_014844.5(TECPR2):c.952-5G>T rs55716270
NM_014844.5(TECPR2):c.952-6del
NM_014844.5(TECPR2):c.952-7_952-5del
NM_014844.5(TECPR2):c.957A>T (p.Thr319=) rs2139721308
NM_014844.5(TECPR2):c.960T>C (p.Val320=) rs2139721330
NM_014844.5(TECPR2):c.975A>G (p.Gly325=)
NM_014844.5(TECPR2):c.976T>C (p.Ser326Pro) rs1889383260
NM_014844.5(TECPR2):c.9G>T (p.Ser3=) rs757589409
NM_015087.5(SPART):c.1227A>G (p.Pro409=) rs1555261871
NM_015161.3(ARL6IP1):c.113G>A (p.Arg38Gln)
NM_015161.3(ARL6IP1):c.170+15A>G
NM_015161.3(ARL6IP1):c.171-9T>A
NM_015161.3(ARL6IP1):c.17A>G (p.Asn6Ser)
NM_015161.3(ARL6IP1):c.207C>T (p.Gly69=)
NM_015161.3(ARL6IP1):c.260T>C (p.Leu87Pro)
NM_015161.3(ARL6IP1):c.263C>T (p.Ala88Val)
NM_015161.3(ARL6IP1):c.26C>G (p.Thr9Ser) rs747185659
NM_015161.3(ARL6IP1):c.291-18G>A
NM_015161.3(ARL6IP1):c.306G>A (p.Gln102=)
NM_015161.3(ARL6IP1):c.324T>G (p.Ile108Met)
NM_015161.3(ARL6IP1):c.345T>C (p.Thr115=) rs758452451
NM_015161.3(ARL6IP1):c.347G>A (p.Arg116Gln)
NM_015161.3(ARL6IP1):c.36+11G>C
NM_015161.3(ARL6IP1):c.36+13dup rs2141875992
NM_015161.3(ARL6IP1):c.36+19T>A
NM_015161.3(ARL6IP1):c.36+20C>T
NM_015161.3(ARL6IP1):c.37-20T>G
NM_015161.3(ARL6IP1):c.390G>A (p.Lys130=)
NM_015161.3(ARL6IP1):c.391G>A (p.Glu131Lys)
NM_015161.3(ARL6IP1):c.408+12G>A
NM_015161.3(ARL6IP1):c.408+17G>T rs202235339
NM_015161.3(ARL6IP1):c.408+4C>G rs1596945553
NM_015161.3(ARL6IP1):c.42A>G (p.Ala14=)
NM_015161.3(ARL6IP1):c.430T>C (p.Ser144Pro)
NM_015161.3(ARL6IP1):c.433C>G (p.Leu145Val)
NM_015161.3(ARL6IP1):c.435T>G (p.Leu145=)
NM_015161.3(ARL6IP1):c.440C>T (p.Ala147Val)
NM_015161.3(ARL6IP1):c.489G>C (p.Leu163=)
NM_015161.3(ARL6IP1):c.493+5G>A
NM_015161.3(ARL6IP1):c.494-14T>C
NM_015161.3(ARL6IP1):c.494-17T>G
NM_015161.3(ARL6IP1):c.494-17dup rs748985230
NM_015161.3(ARL6IP1):c.494-18G>T
NM_015161.3(ARL6IP1):c.494-9del rs748985230
NM_015161.3(ARL6IP1):c.505C>T (p.Leu169=)
NM_015161.3(ARL6IP1):c.510G>A (p.Leu170=)
NM_015161.3(ARL6IP1):c.555A>G (p.Gly185=)
NM_015161.3(ARL6IP1):c.6G>A (p.Ala2=) rs1341666694
NM_015214.3(DDHD2):c.1031G>A (p.Gly344Asp)
NM_015214.3(DDHD2):c.1039A>G (p.Ile347Val)
NM_015214.3(DDHD2):c.1057+9dup
NM_015214.3(DDHD2):c.1058-16_1058-14del
NM_015214.3(DDHD2):c.1058-17T>C
NM_015214.3(DDHD2):c.105C>G (p.Ser35Arg) rs1358332959
NM_015214.3(DDHD2):c.1061C>T (p.Ser354Leu) rs1585731793
NM_015214.3(DDHD2):c.1067T>C (p.Ile356Thr)
NM_015214.3(DDHD2):c.1067T>G (p.Ile356Arg) rs1320383562
NM_015214.3(DDHD2):c.1126-2A>G rs2130822605
NM_015214.3(DDHD2):c.1154G>A (p.Gly385Glu) rs1805760221
NM_015214.3(DDHD2):c.1155A>G (p.Gly385=)
NM_015214.3(DDHD2):c.1159A>G (p.Thr387Ala)
NM_015214.3(DDHD2):c.1168C>A (p.Leu390Ile)
NM_015214.3(DDHD2):c.1176A>G (p.Glu392=)
NM_015214.3(DDHD2):c.1249-20A>G
NM_015214.3(DDHD2):c.1299A>G (p.Pro433=)
NM_015214.3(DDHD2):c.1305G>A (p.Lys435=) rs372509717
NM_015214.3(DDHD2):c.1305G>C (p.Lys435Asn)
NM_015214.3(DDHD2):c.1306A>C (p.Lys436Gln)
NM_015214.3(DDHD2):c.1317C>T (p.Asn439=) rs1183091304
NM_015214.3(DDHD2):c.1342A>G (p.Met448Val)
NM_015214.3(DDHD2):c.1344+15C>T
NM_015214.3(DDHD2):c.1345-18C>T
NM_015214.3(DDHD2):c.1345-3T>C
NM_015214.3(DDHD2):c.1359_1364del (p.Ala454_Pro455del)
NM_015214.3(DDHD2):c.1359_1365delinsC (p.Ala454_Pro455del) rs1585749613
NM_015214.3(DDHD2):c.1365G>C (p.Pro455=)
NM_015214.3(DDHD2):c.1387A>G (p.Ile463Val)
NM_015214.3(DDHD2):c.1402G>A (p.Glu468Lys)
NM_015214.3(DDHD2):c.1404G>A (p.Glu468=)
NM_015214.3(DDHD2):c.1415G>T (p.Ser472Ile)
NM_015214.3(DDHD2):c.1424C>T (p.Thr475Ile) rs2130847879
NM_015214.3(DDHD2):c.1461+6T>C
NM_015214.3(DDHD2):c.1462-10C>T
NM_015214.3(DDHD2):c.1462-19T>C
NM_015214.3(DDHD2):c.1462-7del
NM_015214.3(DDHD2):c.1481G>A (p.Arg494Gln)
NM_015214.3(DDHD2):c.1499A>G (p.Glu500Gly)
NM_015214.3(DDHD2):c.1514T>G (p.Phe505Cys) rs1396002402
NM_015214.3(DDHD2):c.1518A>T (p.Gly506=)
NM_015214.3(DDHD2):c.1587G>C (p.Thr529=) rs141814412
NM_015214.3(DDHD2):c.1604A>G (p.Asn535Ser) rs777500657
NM_015214.3(DDHD2):c.1617+1G>T
NM_015214.3(DDHD2):c.1618-11T>C
NM_015214.3(DDHD2):c.1618-6A>G rs745477461
NM_015214.3(DDHD2):c.1618-9C>T rs1189542712
NM_015214.3(DDHD2):c.1651G>C (p.Val551Leu)
NM_015214.3(DDHD2):c.1673A>G (p.Glu558Gly)
NM_015214.3(DDHD2):c.1720+18A>C
NM_015214.3(DDHD2):c.1721-11A>G
NM_015214.3(DDHD2):c.1770G>A (p.Leu590=)
NM_015214.3(DDHD2):c.1773A>G (p.Leu591=)
NM_015214.3(DDHD2):c.1783C>A (p.Arg595=)
NM_015214.3(DDHD2):c.1784G>A (p.Arg595Gln) rs754698552
NM_015214.3(DDHD2):c.1803del (p.Phe601fs) rs1312739762
NM_015214.3(DDHD2):c.1891+19A>G
NM_015214.3(DDHD2):c.1891+20T>C
NM_015214.3(DDHD2):c.1892-16G>T
NM_015214.3(DDHD2):c.1910C>T (p.Thr637Ile) rs2130855471
NM_015214.3(DDHD2):c.196C>T (p.Gln66Ter)
NM_015214.3(DDHD2):c.2004T>C (p.Ile668=) rs2130855859
NM_015214.3(DDHD2):c.2054+10_2054+12del rs765220738
NM_015214.3(DDHD2):c.2055-17A>T
NM_015214.3(DDHD2):c.2055-2A>G rs1806867348
NM_015214.3(DDHD2):c.2055-6_2055-5del rs2130888276
NM_015214.3(DDHD2):c.2070A>G (p.Thr690=)
NM_015214.3(DDHD2):c.2072T>C (p.Val691Ala)
NM_015214.3(DDHD2):c.2079C>T (p.Leu693=)
NM_015214.3(DDHD2):c.2096A>G (p.Tyr699Cys)
NM_015214.3(DDHD2):c.2124G>A (p.Gln708=) rs1585775142
NM_015214.3(DDHD2):c.220+18C>T rs2130733689
NM_015214.3(DDHD2):c.220+20T>G
NM_015214.3(DDHD2):c.221-19C>T
NM_015214.3(DDHD2):c.221-1_224del rs759522859
NM_015214.3(DDHD2):c.226_227delinsTA (p.Gly76Tyr) rs797045521
NM_015214.3(DDHD2):c.241G>A (p.Val81Ile) rs1804537899
NM_015214.3(DDHD2):c.279G>T (p.Leu93Phe) rs1003263082
NM_015214.3(DDHD2):c.280G>T (p.Gly94Trp) rs202216406
NM_015214.3(DDHD2):c.296A>C (p.Tyr99Ser)
NM_015214.3(DDHD2):c.30G>C (p.Gln10His)
NM_015214.3(DDHD2):c.321A>G (p.Ala107=)
NM_015214.3(DDHD2):c.335G>T (p.Arg112Leu)
NM_015214.3(DDHD2):c.338G>T (p.Cys113Phe)
NM_015214.3(DDHD2):c.342G>A (p.Thr114=) rs774309381
NM_015214.3(DDHD2):c.368A>G (p.Asn123Ser)
NM_015214.3(DDHD2):c.371del (p.Lys124fs) rs1475369039
NM_015214.3(DDHD2):c.386C>T (p.Ser129Leu)
NM_015214.3(DDHD2):c.390G>A (p.Glu130=)
NM_015214.3(DDHD2):c.411+21_411+22del
NM_015214.3(DDHD2):c.411+4T>C
NM_015214.3(DDHD2):c.412-11T>G
NM_015214.3(DDHD2):c.428C>T (p.Ala143Val) rs1554512152
NM_015214.3(DDHD2):c.453G>A (p.Lys151=)
NM_015214.3(DDHD2):c.453_454del (p.Lys152fs)
NM_015214.3(DDHD2):c.455A>G (p.Lys152Arg)
NM_015214.3(DDHD2):c.467C>G (p.Pro156Arg) rs1013939450
NM_015214.3(DDHD2):c.478ATT[2] (p.Ile162del)
NM_015214.3(DDHD2):c.502-19C>A
NM_015214.3(DDHD2):c.502-7G>T
NM_015214.3(DDHD2):c.508G>A (p.Val170Met)
NM_015214.3(DDHD2):c.540T>C (p.Asp180=)
NM_015214.3(DDHD2):c.556_557inv (p.Thr186Val)
NM_015214.3(DDHD2):c.58C>T (p.Pro20Ser) rs1804416698
NM_015214.3(DDHD2):c.612C>T (p.Asp204=) rs2130772829
NM_015214.3(DDHD2):c.618T>C (p.His206=)
NM_015214.3(DDHD2):c.622+13G>A
NM_015214.3(DDHD2):c.638T>C (p.Ile213Thr)
NM_015214.3(DDHD2):c.662A>G (p.His221Arg)
NM_015214.3(DDHD2):c.695G>A (p.Arg232Gln)
NM_015214.3(DDHD2):c.699C>T (p.Ser233=) rs560050475
NM_015214.3(DDHD2):c.707A>C (p.Gln236Pro)
NM_015214.3(DDHD2):c.815G>A (p.Trp272Ter)
NM_015214.3(DDHD2):c.820A>G (p.Ser274Gly) rs1805323544
NM_015214.3(DDHD2):c.825T>G (p.Pro275=) rs2130795209
NM_015214.3(DDHD2):c.849-16T>C
NM_015214.3(DDHD2):c.868C>T (p.Leu290=)
NM_015214.3(DDHD2):c.966A>G (p.Thr322=)
NM_015214.3(DDHD2):c.986G>A (p.Arg329Gln)
NM_015214.3(DDHD2):c.996A>G (p.Thr332=) rs2130812808
NM_022089.4(ATP13A2):c.10+13T>C
NM_022089.4(ATP13A2):c.10+14C>T
NM_022089.4(ATP13A2):c.102C>T (p.Ser34=)
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)
NM_022089.4(ATP13A2):c.1039+11A>G rs2100994243
NM_022089.4(ATP13A2):c.1039+15C>G
NM_022089.4(ATP13A2):c.103G>A (p.Val35Met)
NM_022089.4(ATP13A2):c.1040-12G>A
NM_022089.4(ATP13A2):c.1040-13C>T
NM_022089.4(ATP13A2):c.1040-18C>T
NM_022089.4(ATP13A2):c.1041A>T (p.Gly347=)
NM_022089.4(ATP13A2):c.106-13G>A
NM_022089.4(ATP13A2):c.106-20C>T
NM_022089.4(ATP13A2):c.1075G>A (p.Glu359Lys)
NM_022089.4(ATP13A2):c.1093T>C (p.Cys365Arg)
NM_022089.4(ATP13A2):c.1095T>C (p.Cys365=) rs2100916560
NM_022089.4(ATP13A2):c.1105C>G (p.His369Asp) rs2077158233
NM_022089.4(ATP13A2):c.1110G>T (p.Arg370=)
NM_022089.4(ATP13A2):c.1111C>T (p.Arg371Trp) rs746292302
NM_022089.4(ATP13A2):c.1113del (p.His372fs) rs1377055875
NM_022089.4(ATP13A2):c.1120C>A (p.Leu374Ile)
NM_022089.4(ATP13A2):c.1125C>T (p.Phe375=)
NM_022089.4(ATP13A2):c.1126T>C (p.Cys376Arg) rs1570833382
NM_022089.4(ATP13A2):c.112A>G (p.Ser38Gly) rs780883238
NM_022089.4(ATP13A2):c.1137C>G (p.Leu379=) rs1026641789
NM_022089.4(ATP13A2):c.1145A>G (p.Gln382Arg)
NM_022089.4(ATP13A2):c.1157A>T (p.Tyr386Phe) rs762628723
NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu) rs769588580
NM_022089.4(ATP13A2):c.1170C>A (p.His390Gln) rs201661480
NM_022089.4(ATP13A2):c.1188C>T (p.Thr396=)
NM_022089.4(ATP13A2):c.1190G>A (p.Arg397His)
NM_022089.4(ATP13A2):c.1195+12G>C
NM_022089.4(ATP13A2):c.1195+19G>A
NM_022089.4(ATP13A2):c.1195+5G>A
NM_022089.4(ATP13A2):c.1195+7G>A rs1407939803
NM_022089.4(ATP13A2):c.1196-17C>T
NM_022089.4(ATP13A2):c.1196G>A (p.Gly399Glu) rs2100897670
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu) rs373349384
NM_022089.4(ATP13A2):c.1215G>T (p.Gly405=) rs763507619
NM_022089.4(ATP13A2):c.1218C>T (p.Gly406=) rs796629683
NM_022089.4(ATP13A2):c.1219C>A (p.Leu407Met) rs773702054
NM_022089.4(ATP13A2):c.1227C>G (p.Ser409Arg)
NM_022089.4(ATP13A2):c.1243C>A (p.Arg415=)
NM_022089.4(ATP13A2):c.1272C>A (p.His424Gln)
NM_022089.4(ATP13A2):c.1276A>G (p.Met426Val)
NM_022089.4(ATP13A2):c.1279A>G (p.Lys427Glu)
NM_022089.4(ATP13A2):c.1281G>A (p.Lys427=)
NM_022089.4(ATP13A2):c.1296dup (p.Ser433fs)
NM_022089.4(ATP13A2):c.1306+5G>A rs786205056
NM_022089.4(ATP13A2):c.1306G>A (p.Ala436Thr) rs1439546959
NM_022089.4(ATP13A2):c.1307-11T>C
NM_022089.4(ATP13A2):c.1307-20G>T rs1161484444
NM_022089.4(ATP13A2):c.1314C>T (p.Leu438=) rs764435162
NM_022089.4(ATP13A2):c.1317C>T (p.Gly439=) rs775625778
NM_022089.4(ATP13A2):c.1322T>C (p.Ile441Thr)
NM_022089.4(ATP13A2):c.1325_1333del (p.Tyr442_Ile444del)
NM_022089.4(ATP13A2):c.1346G>A (p.Arg449Gln)
NM_022089.4(ATP13A2):c.1351C>T (p.Arg451Trp)
NM_022089.4(ATP13A2):c.1353+16G>C
NM_022089.4(ATP13A2):c.1353+17G>T
NM_022089.4(ATP13A2):c.1353G>A (p.Arg451=)
NM_022089.4(ATP13A2):c.1353_1353+1del
NM_022089.4(ATP13A2):c.1354-11C>T
NM_022089.4(ATP13A2):c.1354-12G>A
NM_022089.4(ATP13A2):c.1354-17A>C
NM_022089.4(ATP13A2):c.1360C>G (p.Leu454Val) rs2100884368
NM_022089.4(ATP13A2):c.1378del (p.Arg460fs)
NM_022089.4(ATP13A2):c.1380G>C (p.Arg460=)
NM_022089.4(ATP13A2):c.13A>G (p.Ser5Gly) rs2101131465
NM_022089.4(ATP13A2):c.1400T>A (p.Val467Glu)
NM_022089.4(ATP13A2):c.1422TGC[3] (p.Ala476_Met477insAla)
NM_022089.4(ATP13A2):c.1443G>A (p.Thr481=)
NM_022089.4(ATP13A2):c.1466G>A (p.Arg489Gln)
NM_022089.4(ATP13A2):c.1466G>T (p.Arg489Leu) rs760567858
NM_022089.4(ATP13A2):c.1477A>C (p.Ile493Leu) rs1570821678
NM_022089.4(ATP13A2):c.148T>C (p.Tyr50His) rs2101123287
NM_022089.4(ATP13A2):c.1491C>T (p.His497=)
NM_022089.4(ATP13A2):c.1498C>T (p.Arg500Cys)
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1518G>A (p.Lys506=)
NM_022089.4(ATP13A2):c.1542+11A>G rs1286184234
NM_022089.4(ATP13A2):c.1542+13G>A rs2100878532
NM_022089.4(ATP13A2):c.1542+13dup rs1367928615
NM_022089.4(ATP13A2):c.1543-11G>A
NM_022089.4(ATP13A2):c.1543-14C>T
NM_022089.4(ATP13A2):c.1543-18C>T
NM_022089.4(ATP13A2):c.1543-7C>T
NM_022089.4(ATP13A2):c.1564G>A (p.Gly522Ser)
NM_022089.4(ATP13A2):c.1570G>A (p.Asp524Asn)
NM_022089.4(ATP13A2):c.1589C>T (p.Pro530Leu) rs2077019285
NM_022089.4(ATP13A2):c.1591C>G (p.Leu531Val) rs2077019135
NM_022089.4(ATP13A2):c.1592T>C (p.Leu531Pro) rs2100818906
NM_022089.4(ATP13A2):c.1594_1617dup (p.Lys532_Leu539dup) rs766184032
NM_022089.4(ATP13A2):c.1609C>T (p.Leu537=)
NM_022089.4(ATP13A2):c.1621C>T (p.Pro541Ser)
NM_022089.4(ATP13A2):c.1649C>A (p.Pro550His) rs1379076892
NM_022089.4(ATP13A2):c.165G>C (p.Trp55Cys)
NM_022089.4(ATP13A2):c.1662A>G (p.Ala554=)
NM_022089.4(ATP13A2):c.1662A>T (p.Ala554=) rs1269279941
NM_022089.4(ATP13A2):c.1665G>A (p.Leu555=) rs2100816612
NM_022089.4(ATP13A2):c.1685G>A (p.Ser562Asn) rs2100815818
NM_022089.4(ATP13A2):c.1696G>A (p.Asp566Asn) rs2100815502
NM_022089.4(ATP13A2):c.1701C>T (p.Thr567=)
NM_022089.4(ATP13A2):c.1705G>A (p.Val569Met)
NM_022089.4(ATP13A2):c.1720G>A (p.Asp574Asn)
NM_022089.4(ATP13A2):c.1749+12A>G
NM_022089.4(ATP13A2):c.1749+15C>G
NM_022089.4(ATP13A2):c.1749+5G>C
NM_022089.4(ATP13A2):c.1749+8G>T
NM_022089.4(ATP13A2):c.1750-11C>A
NM_022089.4(ATP13A2):c.1750-14T>C
NM_022089.4(ATP13A2):c.1750-20C>A
NM_022089.4(ATP13A2):c.1750-20C>G rs1305686148
NM_022089.4(ATP13A2):c.1762G>A (p.Glu588Lys) rs1251315572
NM_022089.4(ATP13A2):c.1766C>A (p.Pro589Gln)
NM_022089.4(ATP13A2):c.1772C>T (p.Ala591Val) rs758957419
NM_022089.4(ATP13A2):c.1780G>A (p.Ala594Thr)
NM_022089.4(ATP13A2):c.1795G>A (p.Val599Ile) rs764411847
NM_022089.4(ATP13A2):c.1819C>G (p.Leu607Val)
NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)
NM_022089.4(ATP13A2):c.1843A>G (p.Met615Val) rs200529993
NM_022089.4(ATP13A2):c.1845+14G>A
NM_022089.4(ATP13A2):c.1845+15del
NM_022089.4(ATP13A2):c.1845+17C>T rs912845832
NM_022089.4(ATP13A2):c.1846-2A>G rs2100783138
NM_022089.4(ATP13A2):c.1853C>A (p.Pro618His)
NM_022089.4(ATP13A2):c.1859T>C (p.Val620Ala) rs2100782693
NM_022089.4(ATP13A2):c.1887C>T (p.Pro629=)
NM_022089.4(ATP13A2):c.1893T>G (p.Ser631=)
NM_022089.4(ATP13A2):c.190C>T (p.Leu64Phe)
NM_022089.4(ATP13A2):c.1931C>G (p.Pro644Arg) rs2100780847
NM_022089.4(ATP13A2):c.1932del (p.Ala646fs)
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=) rs369722835
NM_022089.4(ATP13A2):c.1947C>T (p.Pro649=)
NM_022089.4(ATP13A2):c.1956C>T (p.Tyr652=)
NM_022089.4(ATP13A2):c.196C>G (p.Arg66Gly)
NM_022089.4(ATP13A2):c.1971G>A (p.Pro657=)
NM_022089.4(ATP13A2):c.1989C>G (p.Leu663=)
NM_022089.4(ATP13A2):c.2005+10_2005+13dup
NM_022089.4(ATP13A2):c.2005+11A>G
NM_022089.4(ATP13A2):c.2005+13G>A
NM_022089.4(ATP13A2):c.2006-1G>C
NM_022089.4(ATP13A2):c.2006-20C>T
NM_022089.4(ATP13A2):c.2006-7dup
NM_022089.4(ATP13A2):c.2006-9C>A
NM_022089.4(ATP13A2):c.2019C>T (p.Phe673=)
NM_022089.4(ATP13A2):c.2028G>T (p.Met676Ile)
NM_022089.4(ATP13A2):c.2045C>T (p.Ala682Val)
NM_022089.4(ATP13A2):c.2082A>G (p.Pro694=) rs1303061130
NM_022089.4(ATP13A2):c.2094G>A (p.Val698=)
NM_022089.4(ATP13A2):c.20C>T (p.Pro7Leu) rs2077535736
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)
NM_022089.4(ATP13A2):c.2123C>T (p.Thr708Met)
NM_022089.4(ATP13A2):c.2126+11C>A
NM_022089.4(ATP13A2):c.2126+13C>T
NM_022089.4(ATP13A2):c.2126+20C>T rs2100772296
NM_022089.4(ATP13A2):c.2127-13G>A
NM_022089.4(ATP13A2):c.2127-2_2127-1delinsCC
NM_022089.4(ATP13A2):c.212G>C (p.Trp71Ser) rs373607247
NM_022089.4(ATP13A2):c.2130C>A (p.Asp710Glu) rs2076943011
NM_022089.4(ATP13A2):c.2134G>C (p.Val712Leu)
NM_022089.4(ATP13A2):c.2136G>A (p.Val712=) rs1232417254
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)
NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer) rs2100768788
NM_022089.4(ATP13A2):c.2147T>G (p.Leu716Arg)
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) rs544545629
NM_022089.4(ATP13A2):c.2178C>G (p.Asn726Lys)
NM_022089.4(ATP13A2):c.217del (p.Val73fs)
NM_022089.4(ATP13A2):c.217dup (p.Val73fs)
NM_022089.4(ATP13A2):c.2180T>C (p.Leu727Pro)
NM_022089.4(ATP13A2):c.2189C>T (p.Pro730Leu)
NM_022089.4(ATP13A2):c.218T>C (p.Val73Ala)
NM_022089.4(ATP13A2):c.2190G>A (p.Pro730=)
NM_022089.4(ATP13A2):c.2202A>G (p.Pro734=)
NM_022089.4(ATP13A2):c.2208C>G (p.Ile736Met) rs1372021672
NM_022089.4(ATP13A2):c.2218C>G (p.Arg740Gly) rs973767624
NM_022089.4(ATP13A2):c.2227C>T (p.Arg743Cys)
NM_022089.4(ATP13A2):c.2230A>G (p.Ile744Val) rs1401459588
NM_022089.4(ATP13A2):c.2235C>T (p.Arg745=)
NM_022089.4(ATP13A2):c.2238C>T (p.Ala746=)
NM_022089.4(ATP13A2):c.2239G>A (p.Val747Ile)
NM_022089.4(ATP13A2):c.2251+19G>A
NM_022089.4(ATP13A2):c.2251+20C>T
NM_022089.4(ATP13A2):c.2251+5A>G
NM_022089.4(ATP13A2):c.2252-12C>G
NM_022089.4(ATP13A2):c.2252-12C>T
NM_022089.4(ATP13A2):c.2252-18T>C rs2076885723
NM_022089.4(ATP13A2):c.2262G>A (p.Leu754=)
NM_022089.4(ATP13A2):c.227G>A (p.Arg76Gln)
NM_022089.4(ATP13A2):c.2305C>T (p.Pro769Ser)
NM_022089.4(ATP13A2):c.2309A>G (p.Gln770Arg) rs77630788
NM_022089.4(ATP13A2):c.2310G>A (p.Gln770=)
NM_022089.4(ATP13A2):c.2325C>T (p.Ile775=)
NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile) rs56170027
NM_022089.4(ATP13A2):c.2333C>G (p.Ala778Gly)
NM_022089.4(ATP13A2):c.2339A>C (p.His780Pro) rs867014635
NM_022089.4(ATP13A2):c.2379G>A (p.Pro793=)
NM_022089.4(ATP13A2):c.2395G>A (p.Ala799Thr)
NM_022089.4(ATP13A2):c.2400G>C (p.Val800=)
NM_022089.4(ATP13A2):c.2412+12C>G
NM_022089.4(ATP13A2):c.2413-1G>C
NM_022089.4(ATP13A2):c.2417C>T (p.Pro806Leu) rs2100727013
NM_022089.4(ATP13A2):c.2429C>T (p.Ala810Val)
NM_022089.4(ATP13A2):c.2451C>G (p.Asp817Glu)
NM_022089.4(ATP13A2):c.2454C>T (p.Pro818=) rs2100725900
NM_022089.4(ATP13A2):c.2459C>G (p.Ser820Cys)
NM_022089.4(ATP13A2):c.2464C>T (p.His822Tyr) rs2100725484
NM_022089.4(ATP13A2):c.2478C>G (p.Ser826Arg) rs147611385
NM_022089.4(ATP13A2):c.2481G>T (p.Gly827=) rs761620417
NM_022089.4(ATP13A2):c.2483C>T (p.Pro828Leu) rs1235764815
NM_022089.4(ATP13A2):c.2488T>G (p.Phe830Val)
NM_022089.4(ATP13A2):c.24C>A (p.Leu8=) rs1460426486
NM_022089.4(ATP13A2):c.2527A>C (p.Lys843Gln) rs2100724045
NM_022089.4(ATP13A2):c.2529+10C>T
NM_022089.4(ATP13A2):c.2529+11C>T
NM_022089.4(ATP13A2):c.2529+7C>T rs2100723755
NM_022089.4(ATP13A2):c.2530-14C>A rs759142662
NM_022089.4(ATP13A2):c.2538C>G (p.Val846=) rs1365858933
NM_022089.4(ATP13A2):c.2544C>T (p.Gly848=) rs769033175
NM_022089.4(ATP13A2):c.2548G>C (p.Val850Leu)
NM_022089.4(ATP13A2):c.2556C>T (p.Ala852=) rs55889979
NM_022089.4(ATP13A2):c.2557C>G (p.Arg853Gly) rs772243999
NM_022089.4(ATP13A2):c.256G>A (p.Glu86Lys)
NM_022089.4(ATP13A2):c.2580A>G (p.Thr860=) rs1295653375
NM_022089.4(ATP13A2):c.2587del (p.Val863fs)
NM_022089.4(ATP13A2):c.258A>C (p.Glu86Asp)
NM_022089.4(ATP13A2):c.2593G>C (p.Glu865Gln)
NM_022089.4(ATP13A2):c.2609+19G>T
NM_022089.4(ATP13A2):c.2610-8C>T
NM_022089.4(ATP13A2):c.2652G>A (p.Gly884=)
NM_022089.4(ATP13A2):c.2664G>T (p.Ala888=)
NM_022089.4(ATP13A2):c.2675G>A (p.Gly892Asp)
NM_022089.4(ATP13A2):c.2682G>A (p.Ser894=) rs767921922
NM_022089.4(ATP13A2):c.270C>T (p.Ile90=) rs1348572920
NM_022089.4(ATP13A2):c.271G>A (p.Glu91Lys)
NM_022089.4(ATP13A2):c.2742G>A (p.Glu914=) rs146234171
NM_022089.4(ATP13A2):c.2762+18C>T
NM_022089.4(ATP13A2):c.2762+19G>C rs779656439
NM_022089.4(ATP13A2):c.2762+9G>A rs1570769698
NM_022089.4(ATP13A2):c.2763-4_2763-1del
NM_022089.4(ATP13A2):c.2763-8C>A
NM_022089.4(ATP13A2):c.2766G>T (p.Glu922Asp)
NM_022089.4(ATP13A2):c.2799C>T (p.Val933=)
NM_022089.4(ATP13A2):c.2829C>G (p.Thr943=)
NM_022089.4(ATP13A2):c.2835C>A (p.Phe945Leu)
NM_022089.4(ATP13A2):c.2841C>T (p.Ser947=)
NM_022089.4(ATP13A2):c.284A>G (p.Lys95Arg) rs2101118952
NM_022089.4(ATP13A2):c.2858C>G (p.Thr953Arg) rs148721722
NM_022089.4(ATP13A2):c.2858C>T (p.Thr953Met) rs148721722
NM_022089.4(ATP13A2):c.2859G>T (p.Thr953=) rs144557304
NM_022089.4(ATP13A2):c.2860-7G>A rs2076770965
NM_022089.4(ATP13A2):c.2862C>A (p.Ile954=)
NM_022089.4(ATP13A2):c.2864A>G (p.Asn955Ser)
NM_022089.4(ATP13A2):c.2867C>G (p.Thr956Ser)
NM_022089.4(ATP13A2):c.2871C>T (p.Asn957=)
NM_022089.4(ATP13A2):c.288+12G>T rs749064381
NM_022089.4(ATP13A2):c.288+13C>G rs1300682662
NM_022089.4(ATP13A2):c.288+17G>T
NM_022089.4(ATP13A2):c.2888T>C (p.Phe963Ser) rs2100659067
NM_022089.4(ATP13A2):c.289-12T>C
NM_022089.4(ATP13A2):c.289-13C>T
NM_022089.4(ATP13A2):c.2898C>T (p.Ile966=)
NM_022089.4(ATP13A2):c.2899G>C (p.Asp967His) rs772870846
NM_022089.4(ATP13A2):c.2905G>C (p.Val969Leu) rs769445714
NM_022089.4(ATP13A2):c.2910CAC[2] (p.Thr973del)
NM_022089.4(ATP13A2):c.2927T>C (p.Val976Ala) rs776148733
NM_022089.4(ATP13A2):c.2927T>G (p.Val976Gly) rs776148733
NM_022089.4(ATP13A2):c.2954T>C (p.Leu985Pro)
NM_022089.4(ATP13A2):c.2958C>G (p.Val986=)
NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp)
NM_022089.4(ATP13A2):c.2967G>A (p.Arg989=)
NM_022089.4(ATP13A2):c.2970_2971delinsAT (p.Arg991Trp) rs2100656614
NM_022089.4(ATP13A2):c.2976A>C (p.Pro992=)
NM_022089.4(ATP13A2):c.2978C>G (p.Pro993Arg) rs146559160
NM_022089.4(ATP13A2):c.2979G>A (p.Pro993=)
NM_022089.4(ATP13A2):c.2984C>T (p.Ala995Val)
NM_022089.4(ATP13A2):c.2991C>T (p.Leu997=)
NM_022089.4(ATP13A2):c.2T>G (p.Met1Arg) rs1557729552
NM_022089.4(ATP13A2):c.3013C>T (p.Leu1005=)
NM_022089.4(ATP13A2):c.3039C>T (p.Thr1013=)
NM_022089.4(ATP13A2):c.3040G>C (p.Gly1014Arg)
NM_022089.4(ATP13A2):c.3041_3043dup (p.Gly1014dup) rs2100654427
NM_022089.4(ATP13A2):c.3042C>T (p.Gly1014=) rs1415173041
NM_022089.4(ATP13A2):c.3065T>C (p.Leu1022Pro) rs2076761037
NM_022089.4(ATP13A2):c.3068C>T (p.Thr1023Ile) rs951420437
NM_022089.4(ATP13A2):c.3080C>A (p.Pro1027Gln)
NM_022089.4(ATP13A2):c.3083+18dup
NM_022089.4(ATP13A2):c.3083+2T>C rs771581490
NM_022089.4(ATP13A2):c.3083+5G>A
NM_022089.4(ATP13A2):c.3084-10G>A rs368908107
NM_022089.4(ATP13A2):c.3084-10G>T rs368908107
NM_022089.4(ATP13A2):c.3084-20C>T rs773787370
NM_022089.4(ATP13A2):c.3084-7C>A
NM_022089.4(ATP13A2):c.3084-7C>T
NM_022089.4(ATP13A2):c.3126G>C (p.Leu1042=)
NM_022089.4(ATP13A2):c.3135C>T (p.Tyr1045=)
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter) rs1557666781
NM_022089.4(ATP13A2):c.3144C>T (p.Thr1048=) rs56126202
NM_022089.4(ATP13A2):c.3153dup (p.Ser1052fs)
NM_022089.4(ATP13A2):c.3157_3158del (p.Leu1053fs) rs1570759415
NM_022089.4(ATP13A2):c.3183G>A (p.Leu1061=)
NM_022089.4(ATP13A2):c.3184G>T (p.Ala1062Ser)
NM_022089.4(ATP13A2):c.3193G>T (p.Val1065Leu) rs377431904
NM_022089.4(ATP13A2):c.3206C>A (p.Ala1069Glu) rs764988645
NM_022089.4(ATP13A2):c.3206C>G (p.Ala1069Gly)
NM_022089.4(ATP13A2):c.3207G>T (p.Ala1069=)
NM_022089.4(ATP13A2):c.3222G>A (p.Pro1074=) rs372993383
NM_022089.4(ATP13A2):c.3235+11G>C
NM_022089.4(ATP13A2):c.3235+14C>T
NM_022089.4(ATP13A2):c.3235+19G>A
NM_022089.4(ATP13A2):c.3236-13C>G rs2076736733
NM_022089.4(ATP13A2):c.3236-19_3236-16del
NM_022089.4(ATP13A2):c.3239C>A (p.Pro1080His)
NM_022089.4(ATP13A2):c.3247G>C (p.Val1083Leu)
NM_022089.4(ATP13A2):c.3256G>A (p.Ala1086Thr)
NM_022089.4(ATP13A2):c.3270C>T (p.Ser1090=)
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)
NM_022089.4(ATP13A2):c.3273C>G (p.Val1091=)
NM_022089.4(ATP13A2):c.3277G>C (p.Val1093Leu) rs1057522952
NM_022089.4(ATP13A2):c.327T>C (p.Thr109=)
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe) rs886045577
NM_022089.4(ATP13A2):c.3314C>G (p.Pro1105Arg)
NM_022089.4(ATP13A2):c.3321G>A (p.Ala1107=) rs751916254
NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser) rs145674970
NM_022089.4(ATP13A2):c.3399G>A (p.Met1133Ile)
NM_022089.4(ATP13A2):c.3400C>T (p.Leu1134=)
NM_022089.4(ATP13A2):c.3405+19C>T
NM_022089.4(ATP13A2):c.3405+7C>T rs758763354
NM_022089.4(ATP13A2):c.3406-13del
NM_022089.4(ATP13A2):c.3406-8del
NM_022089.4(ATP13A2):c.3408C>A (p.Ser1136Arg) rs779310083
NM_022089.4(ATP13A2):c.3408C>T (p.Ser1136=)
NM_022089.4(ATP13A2):c.3411G>C (p.Val1137=) rs2100629081
NM_022089.4(ATP13A2):c.3414A>G (p.Leu1138=)
NM_022089.4(ATP13A2):c.3422G>T (p.Cys1141Phe)
NM_022089.4(ATP13A2):c.3423C>T (p.Cys1141=)
NM_022089.4(ATP13A2):c.3426C>A (p.Leu1142=)
NM_022089.4(ATP13A2):c.3426C>G (p.Leu1142=)
NM_022089.4(ATP13A2):c.3435C>T (p.Cys1145=)
NM_022089.4(ATP13A2):c.3439C>A (p.Arg1147Ser)
NM_022089.4(ATP13A2):c.3448C>T (p.Arg1150Trp)
NM_022089.4(ATP13A2):c.3449G>A (p.Arg1150Gln)
NM_022089.4(ATP13A2):c.344G>T (p.Gly115Val)
NM_022089.4(ATP13A2):c.3457C>A (p.Arg1153=)
NM_022089.4(ATP13A2):c.3458G>C (p.Arg1153Pro) rs772666861
NM_022089.4(ATP13A2):c.3462C>T (p.Ala1154=) rs761171771
NM_022089.4(ATP13A2):c.347+12_347+13del
NM_022089.4(ATP13A2):c.347+17_347+18delinsAT
NM_022089.4(ATP13A2):c.3471G>T (p.Lys1157Asn) rs2100626361
NM_022089.4(ATP13A2):c.3472C>A (p.Arg1158Ser) rs201610681
NM_022089.4(ATP13A2):c.3476T>C (p.Phe1159Ser) rs1553164387
NM_022089.4(ATP13A2):c.348-16T>C rs2077491501
NM_022089.4(ATP13A2):c.348-17C>T
NM_022089.4(ATP13A2):c.348-9_351del rs749798211
NM_022089.4(ATP13A2):c.348C>G (p.Ser116Arg) rs2077491125
NM_022089.4(ATP13A2):c.3490C>A (p.Arg1164=) rs373003359
NM_022089.4(ATP13A2):c.3490C>T (p.Arg1164Ter)
NM_022089.4(ATP13A2):c.349C>T (p.Leu117=)
NM_022089.4(ATP13A2):c.3501C>G (p.Ala1167=)
NM_022089.4(ATP13A2):c.3502G>A (p.Glu1168Lys)
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs) rs779637529
NM_022089.4(ATP13A2):c.3525C>T (p.Pro1175=)
NM_022089.4(ATP13A2):c.3535del (p.Pro1178_Leu1179insTer) rs1570752813
NM_022089.4(ATP13A2):c.3543G>A (p.Ter1181=)
NM_022089.4(ATP13A2):c.361C>T (p.Pro121Ser) rs1421953227
NM_022089.4(ATP13A2):c.373G>C (p.Ala125Pro)
NM_022089.4(ATP13A2):c.374C>A (p.Ala125Glu)
NM_022089.4(ATP13A2):c.401T>C (p.Val134Ala) rs2101102735
NM_022089.4(ATP13A2):c.408G>A (p.Ala136=)
NM_022089.4(ATP13A2):c.409del (p.Val137fs) rs2077487643
NM_022089.4(ATP13A2):c.43G>A (p.Gly15Ser)
NM_022089.4(ATP13A2):c.44G>C (p.Gly15Ala) rs1287774416
NM_022089.4(ATP13A2):c.469G>A (p.Val157Ile)
NM_022089.4(ATP13A2):c.477+12A>G
NM_022089.4(ATP13A2):c.477+18C>A
NM_022089.4(ATP13A2):c.478-7C>T
NM_022089.4(ATP13A2):c.482G>A (p.Arg161Gln)
NM_022089.4(ATP13A2):c.483G>A (p.Arg161=)
NM_022089.4(ATP13A2):c.484G>T (p.Val162Leu) rs766714391
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)
NM_022089.4(ATP13A2):c.4A>T (p.Ser2Cys) rs2101432066
NM_022089.4(ATP13A2):c.508G>A (p.Gly170Ser) rs762075619
NM_022089.4(ATP13A2):c.524G>T (p.Trp175Leu) rs2077471676
NM_022089.4(ATP13A2):c.533_536dup (p.Gln179fs)
NM_022089.4(ATP13A2):c.557+1G>T
NM_022089.4(ATP13A2):c.557+7G>A
NM_022089.4(ATP13A2):c.558-11C>T rs912183101
NM_022089.4(ATP13A2):c.558-15C>T
NM_022089.4(ATP13A2):c.558-6C>T
NM_022089.4(ATP13A2):c.570T>C (p.His190=)
NM_022089.4(ATP13A2):c.572dup (p.Arg192fs)
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)
NM_022089.4(ATP13A2):c.58A>C (p.Thr20Pro)
NM_022089.4(ATP13A2):c.598T>C (p.Ser200Pro)
NM_022089.4(ATP13A2):c.599C>G (p.Ser200Cys) rs2101047661
NM_022089.4(ATP13A2):c.604del (p.His202fs)
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter) rs1483668823
NM_022089.4(ATP13A2):c.629T>A (p.Met210Lys)
NM_022089.4(ATP13A2):c.631G>T (p.Val211Leu)
NM_022089.4(ATP13A2):c.635+10G>C
NM_022089.4(ATP13A2):c.635+20G>A
NM_022089.4(ATP13A2):c.635+8C>T
NM_022089.4(ATP13A2):c.636-12C>A
NM_022089.4(ATP13A2):c.636-19G>A rs1001030076
NM_022089.4(ATP13A2):c.642C>T (p.Ala214=) rs2101043010
NM_022089.4(ATP13A2):c.657C>T (p.Asn219=)
NM_022089.4(ATP13A2):c.66G>A (p.Gly22=)
NM_022089.4(ATP13A2):c.702C>T (p.Asp234=)
NM_022089.4(ATP13A2):c.703G>A (p.Glu235Lys)
NM_022089.4(ATP13A2):c.705+11C>T
NM_022089.4(ATP13A2):c.706-13G>A rs374468183
NM_022089.4(ATP13A2):c.706-13G>T rs374468183
NM_022089.4(ATP13A2):c.706-16C>T rs2101010699
NM_022089.4(ATP13A2):c.706-17T>C
NM_022089.4(ATP13A2):c.706-3C>T rs753707797
NM_022089.4(ATP13A2):c.710T>C (p.Leu237Pro)
NM_022089.4(ATP13A2):c.716C>T (p.Pro239Leu)
NM_022089.4(ATP13A2):c.73A>G (p.Ile25Val)
NM_022089.4(ATP13A2):c.747G>A (p.Ala249=)
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
NM_022089.4(ATP13A2):c.811A>G (p.Ile271Val) rs561097876
NM_022089.4(ATP13A2):c.813C>G (p.Ile271Met) rs1557703924
NM_022089.4(ATP13A2):c.821C>T (p.Ser274Leu) rs1213129765
NM_022089.4(ATP13A2):c.835A>G (p.Arg279Gly)
NM_022089.4(ATP13A2):c.840+5G>A
NM_022089.4(ATP13A2):c.840G>T (p.Lys280Asn) rs1326739914
NM_022089.4(ATP13A2):c.841-15G>T
NM_022089.4(ATP13A2):c.841-18C>T
NM_022089.4(ATP13A2):c.841-20C>T
NM_022089.4(ATP13A2):c.841C>G (p.Gln281Glu) rs2077304764
NM_022089.4(ATP13A2):c.853C>T (p.Leu285=)
NM_022089.4(ATP13A2):c.864G>A (p.Met288Ile) rs866353083
NM_022089.4(ATP13A2):c.888C>T (p.Cys296=)
NM_022089.4(ATP13A2):c.894C>T (p.Cys298=)
NM_022089.4(ATP13A2):c.896G>A (p.Arg299Gln)
NM_022089.4(ATP13A2):c.900A>C (p.Pro300=)
NM_022089.4(ATP13A2):c.904G>A (p.Gly302Arg) rs948455777
NM_022089.4(ATP13A2):c.908-13T>G
NM_022089.4(ATP13A2):c.908-14C>T rs536927284
NM_022089.4(ATP13A2):c.908-18T>A
NM_022089.4(ATP13A2):c.908-19C>T
NM_022089.4(ATP13A2):c.908-20C>T rs2100997892
NM_022089.4(ATP13A2):c.908-8G>A
NM_022089.4(ATP13A2):c.919G>A (p.Val307Met)
NM_022089.4(ATP13A2):c.934C>T (p.Leu312=)
NM_022089.4(ATP13A2):c.940C>T (p.Pro314Ser) rs752006308
NM_022089.4(ATP13A2):c.942C>G (p.Pro314=)
NM_022089.4(ATP13A2):c.942C>T (p.Pro314=) rs551559306
NM_022089.4(ATP13A2):c.955G>C (p.Val319Leu) rs1557702165
NM_022089.4(ATP13A2):c.965del (p.Gln322fs)
NM_022089.4(ATP13A2):c.966G>A (p.Gln322=)
NM_025137.3(SPG11):c.(?_-1)_3520+?del
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs) rs312262764
NM_025137.3(SPG11):c.7151+4_7151+7dup
NM_025137.4(SPG11):c.1005T>C (p.Asp335=)
NM_025137.4(SPG11):c.1007+11T>C
NM_025137.4(SPG11):c.1007+19_1007+20insCAGAAACTTCCTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCGGCGGTCGGGCGGCGGCGGCTGC rs2141107951
NM_025137.4(SPG11):c.1007+3A>G
NM_025137.4(SPG11):c.1007G>A (p.Arg336Lys) rs892937993
NM_025137.4(SPG11):c.1008-11del
NM_025137.4(SPG11):c.1008-12C>T
NM_025137.4(SPG11):c.1008-18A>G
NM_025137.4(SPG11):c.1008-1G>A rs2141107413
NM_025137.4(SPG11):c.1008-4C>G
NM_025137.4(SPG11):c.1008-5T>G
NM_025137.4(SPG11):c.1008-9del
NM_025137.4(SPG11):c.100C>T (p.Pro34Ser) rs1060501172
NM_025137.4(SPG11):c.1013G>A (p.Trp338Ter)
NM_025137.4(SPG11):c.1021C>T (p.Gln341Ter)
NM_025137.4(SPG11):c.1024C>T (p.Leu342=)
NM_025137.4(SPG11):c.1028C>T (p.Ser343Leu) rs2084792703
NM_025137.4(SPG11):c.1029A>G (p.Ser343=)
NM_025137.4(SPG11):c.102C>T (p.Pro34=)
NM_025137.4(SPG11):c.1032_1034del (p.Leu345del) rs1555381612
NM_025137.4(SPG11):c.1033T>C (p.Leu345=)
NM_025137.4(SPG11):c.1050G>A (p.Lys350=) rs2141107304
NM_025137.4(SPG11):c.1050_1052del (p.Lys350del)
NM_025137.4(SPG11):c.1055C>G (p.Ser352Cys) rs2141107282
NM_025137.4(SPG11):c.105C>T (p.Ala35=) rs1595945253
NM_025137.4(SPG11):c.1061T>G (p.Leu354Arg)
NM_025137.4(SPG11):c.106G>A (p.Glu36Lys) rs1174925032
NM_025137.4(SPG11):c.1077T>C (p.Cys359=)
NM_025137.4(SPG11):c.107A>G (p.Glu36Gly) rs1219891696
NM_025137.4(SPG11):c.1081C>T (p.Pro361Ser) rs2084791008
NM_025137.4(SPG11):c.1083A>G (p.Pro361=)
NM_025137.4(SPG11):c.1089C>T (p.Phe363=)
NM_025137.4(SPG11):c.1090C>T (p.Gln364Ter) rs2141107140
NM_025137.4(SPG11):c.1113A>C (p.Ser371=)
NM_025137.4(SPG11):c.111G>A (p.Ala37=) rs2141138705
NM_025137.4(SPG11):c.111_150delinsTC (p.Met38fs) rs2141138493
NM_025137.4(SPG11):c.1124G>A (p.Gly375Asp) rs2141107015
NM_025137.4(SPG11):c.1124G>T (p.Gly375Val)
NM_025137.4(SPG11):c.1129C>G (p.His377Asp)
NM_025137.4(SPG11):c.1139G>A (p.Ser380Asn)
NM_025137.4(SPG11):c.1142T>G (p.Val381Gly) rs2084787461
NM_025137.4(SPG11):c.1142_1143del (p.Val381fs) rs2141106935
NM_025137.4(SPG11):c.1144C>T (p.Gln382Ter)
NM_025137.4(SPG11):c.1151G>A (p.Trp384Ter)
NM_025137.4(SPG11):c.1152G>A (p.Trp384Ter) rs2084787275
NM_025137.4(SPG11):c.1152G>C (p.Trp384Cys)
NM_025137.4(SPG11):c.1155C>T (p.Ala385=)
NM_025137.4(SPG11):c.115G>A (p.Gly39Arg)
NM_025137.4(SPG11):c.1160T>C (p.Ile387Thr)
NM_025137.4(SPG11):c.1162C>G (p.Pro388Ala) rs2141106847
NM_025137.4(SPG11):c.1175T>C (p.Met392Thr) rs2084785700
NM_025137.4(SPG11):c.117G>A (p.Gly39=) rs1253131194
NM_025137.4(SPG11):c.1184A>C (p.Gln395Pro) rs758480359
NM_025137.4(SPG11):c.1184A>G (p.Gln395Arg) rs758480359
NM_025137.4(SPG11):c.1185A>G (p.Gln395=)
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) rs267607084
NM_025137.4(SPG11):c.1190A>T (p.Asn397Ile)
NM_025137.4(SPG11):c.1192G>A (p.Val398Ile)
NM_025137.4(SPG11):c.1194T>C (p.Val398=)
NM_025137.4(SPG11):c.1195C>T (p.Leu399=) rs990876732
NM_025137.4(SPG11):c.1203del (p.Asp402fs) rs312262722
NM_025137.4(SPG11):c.1222G>A (p.Asp408Asn) rs1410107862
NM_025137.4(SPG11):c.1225C>T (p.Pro409Ser)
NM_025137.4(SPG11):c.1227A>G (p.Pro409=) rs150909768
NM_025137.4(SPG11):c.122T>G (p.Leu41Arg) rs1595945198
NM_025137.4(SPG11):c.1233A>G (p.Arg411=)
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.1236A>T (p.Ser412=)
NM_025137.4(SPG11):c.123C>T (p.Leu41=) rs776992288
NM_025137.4(SPG11):c.1254C>T (p.Ile418=) rs2141106482
NM_025137.4(SPG11):c.1256G>A (p.Ser419Asn) rs2084781481
NM_025137.4(SPG11):c.1261C>T (p.Gln421Ter)
NM_025137.4(SPG11):c.1275A>G (p.Ile425Met) rs978081175
NM_025137.4(SPG11):c.1275dup (p.Glu426fs) rs2141106403
NM_025137.4(SPG11):c.1278G>A (p.Glu426=) rs2084780424
NM_025137.4(SPG11):c.1288G>T (p.Val430Leu) rs778937794
NM_025137.4(SPG11):c.1299A>G (p.Thr433=)
NM_025137.4(SPG11):c.12G>A (p.Glu4=)
NM_025137.4(SPG11):c.1302A>G (p.Gly434=)
NM_025137.4(SPG11):c.1308T>C (p.Thr436=)
NM_025137.4(SPG11):c.1311A>T (p.Ala437=)
NM_025137.4(SPG11):c.1312C>T (p.Leu438=)
NM_025137.4(SPG11):c.1314G>A (p.Leu438=)
NM_025137.4(SPG11):c.1321T>C (p.Trp441Arg) rs1036385500
NM_025137.4(SPG11):c.1326dup (p.Val443fs)
NM_025137.4(SPG11):c.1329G>T (p.Val443=) rs2141106230
NM_025137.4(SPG11):c.132G>A (p.Arg44=) rs2141138590
NM_025137.4(SPG11):c.132G>C (p.Arg44=)
NM_025137.4(SPG11):c.1331A>G (p.Glu444Gly)
NM_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
NM_025137.4(SPG11):c.1352C>T (p.Thr451Ile) rs1567190879
NM_025137.4(SPG11):c.1355T>C (p.Leu452Pro)
NM_025137.4(SPG11):c.1355T>G (p.Leu452Arg) rs776275517
NM_025137.4(SPG11):c.1368G>A (p.Glu456=)
NM_025137.4(SPG11):c.136C>T (p.Gln46Ter)
NM_025137.4(SPG11):c.1371C>T (p.Thr457=) rs2141106099
NM_025137.4(SPG11):c.1376G>T (p.Gly459Val) rs1595927055
NM_025137.4(SPG11):c.1377C>T (p.Gly459=) rs768183449
NM_025137.4(SPG11):c.1378A>G (p.Met460Val) rs2141106039
NM_025137.4(SPG11):c.1380G>A (p.Met460Ile) rs1296643524
NM_025137.4(SPG11):c.1393C>A (p.Leu465Ile) rs2084776558
NM_025137.4(SPG11):c.1395T>C (p.Leu465=) rs2141105955
NM_025137.4(SPG11):c.13G>A (p.Glu5Lys) rs1247084532
NM_025137.4(SPG11):c.1400C>T (p.Thr467Ile)
NM_025137.4(SPG11):c.1407T>G (p.Cys469Trp) rs2141105909
NM_025137.4(SPG11):c.1408A>G (p.Ile470Val) rs2141105901
NM_025137.4(SPG11):c.1422T>A (p.Ser474Arg) rs2084775958
NM_025137.4(SPG11):c.1422T>C (p.Ser474=)
NM_025137.4(SPG11):c.142dup (p.Arg48fs)
NM_025137.4(SPG11):c.1431C>T (p.Asp477=)
NM_025137.4(SPG11):c.1435C>A (p.Gln479Lys) rs2141105806
NM_025137.4(SPG11):c.1440G>T (p.Leu480=)
NM_025137.4(SPG11):c.1446T>C (p.Phe482=)
NM_025137.4(SPG11):c.1456+11C>T
NM_025137.4(SPG11):c.1456+14G>C
NM_025137.4(SPG11):c.1456+1G>T
NM_025137.4(SPG11):c.1456+4A>C rs1311330812
NM_025137.4(SPG11):c.1456+9G>C
NM_025137.4(SPG11):c.1457-13A>G
NM_025137.4(SPG11):c.1457-15T>G
NM_025137.4(SPG11):c.1457-15_1457-14del
NM_025137.4(SPG11):c.1457-18C>G
NM_025137.4(SPG11):c.1457-19A>G
NM_025137.4(SPG11):c.1457-4A>C
NM_025137.4(SPG11):c.1457-7C>A
NM_025137.4(SPG11):c.1467C>G (p.Leu489=)
NM_025137.4(SPG11):c.1469C>G (p.Ser490Cys) rs1384102732
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs) rs312262727
NM_025137.4(SPG11):c.1473G>A (p.Leu491=) rs1595923506
NM_025137.4(SPG11):c.1478T>A (p.Leu493Ter)
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs) rs758015273
NM_025137.4(SPG11):c.1482del (p.Phe494fs)
NM_025137.4(SPG11):c.1494A>C (p.Gln498His) rs760202776
NM_025137.4(SPG11):c.14A>G (p.Glu5Gly) rs911119510
NM_025137.4(SPG11):c.1503T>G (p.Phe501Leu) rs1060501175
NM_025137.4(SPG11):c.150G>A (p.Gln50=) rs745498485
NM_025137.4(SPG11):c.1521C>T (p.Ile507=)
NM_025137.4(SPG11):c.1528A>C (p.Ser510Arg) rs2084683038
NM_025137.4(SPG11):c.1529G>A (p.Ser510Asn) rs1408459133
NM_025137.4(SPG11):c.1535G>A (p.Ser512Asn) rs976041926
NM_025137.4(SPG11):c.1547C>T (p.Thr516Ile)
NM_025137.4(SPG11):c.154G>T (p.Glu52Ter)
NM_025137.4(SPG11):c.1551_1552del (p.Cys518fs) rs312262730
NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe) rs557277528
NM_025137.4(SPG11):c.1565G>A (p.Gly522Asp)
NM_025137.4(SPG11):c.1570G>A (p.Gly524Arg) rs1238362916
NM_025137.4(SPG11):c.1572A>G (p.Gly524=)
NM_025137.4(SPG11):c.1578C>T (p.Cys526=)
NM_025137.4(SPG11):c.1580C>G (p.Ser527Ter)
NM_025137.4(SPG11):c.1585C>T (p.Pro529Ser)
NM_025137.4(SPG11):c.1586C>T (p.Pro529Leu) rs964345865
NM_025137.4(SPG11):c.1588A>G (p.Ile530Val) rs746138256
NM_025137.4(SPG11):c.158C>T (p.Ala53Val) rs1302243415
NM_025137.4(SPG11):c.1590A>C (p.Ile530=)
NM_025137.4(SPG11):c.1592A>G (p.His531Arg) rs757589840
NM_025137.4(SPG11):c.1593dup (p.Ala532fs) rs2141098660
NM_025137.4(SPG11):c.1596A>C (p.Ala532=)
NM_025137.4(SPG11):c.1599A>G (p.Leu533=) rs2141098634
NM_025137.4(SPG11):c.1601A>G (p.Glu534Gly) rs778355918
NM_025137.4(SPG11):c.1602+19C>G
NM_025137.4(SPG11):c.1602+1G>A
NM_025137.4(SPG11):c.1602+20A>C
NM_025137.4(SPG11):c.1602+7_1602+8del
NM_025137.4(SPG11):c.1603-13C>T
NM_025137.4(SPG11):c.1603-1G>C
NM_025137.4(SPG11):c.1603-25_1690del rs2141056788
NM_025137.4(SPG11):c.1603-5T>C rs2084149728
NM_025137.4(SPG11):c.1603-8C>A rs756665513
NM_025137.4(SPG11):c.1603-8C>T
NM_025137.4(SPG11):c.1605C>A (p.Ala535=)
NM_025137.4(SPG11):c.1607G>A (p.Gly536Glu) rs200428589
NM_025137.4(SPG11):c.160C>T (p.Leu54=)
NM_025137.4(SPG11):c.1611A>G (p.Ile537Met)
NM_025137.4(SPG11):c.1624C>T (p.Leu542=)
NM_025137.4(SPG11):c.162G>A (p.Leu54=)
NM_025137.4(SPG11):c.1636A>C (p.Asn546His) rs1006002015
NM_025137.4(SPG11):c.1641C>T (p.Phe547=)
NM_025137.4(SPG11):c.1644T>C (p.Phe548=)
NM_025137.4(SPG11):c.1654_1655insGGAAAATCTTTTTTTTTTTTTTTTTTTTTNNNNNNNNGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGA (p.Ser551_Lys552insArgLysIlePhePhePhePhePhePhePheXaaXaaXaaGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGly) rs2141056921
NM_025137.4(SPG11):c.1667T>C (p.Phe556Ser) rs375399685
NM_025137.4(SPG11):c.1668_1669insSVAelement
NM_025137.4(SPG11):c.1675T>A (p.Ser559Thr) rs773680273
NM_025137.4(SPG11):c.1677C>T (p.Ser559=)
NM_025137.4(SPG11):c.167G>T (p.Ser56Ile) rs1566838366
NM_025137.4(SPG11):c.1680A>G (p.Ser560=)
NM_025137.4(SPG11):c.1683A>G (p.Lys561=)
NM_025137.4(SPG11):c.168C>T (p.Ser56=)
NM_025137.4(SPG11):c.1696G>A (p.Asp566Asn) rs2084145691
NM_025137.4(SPG11):c.1697_1710delinsTCATCCCAT (p.Asp566fs)
NM_025137.4(SPG11):c.1700A>C (p.Gln567Pro)
NM_025137.4(SPG11):c.1707T>C (p.Asp569=)
NM_025137.4(SPG11):c.1710C>G (p.His570Gln)
NM_025137.4(SPG11):c.1710C>T (p.His570=) rs1040331008
NM_025137.4(SPG11):c.1716A>C (p.Ser572=)
NM_025137.4(SPG11):c.1719C>G (p.Ser573=)
NM_025137.4(SPG11):c.1719C>T (p.Ser573=)
NM_025137.4(SPG11):c.171G>A (p.Leu57=)
NM_025137.4(SPG11):c.1721A>G (p.His574Arg) rs1555457572
NM_025137.4(SPG11):c.1725A>G (p.Leu575=) rs1306125865
NM_025137.4(SPG11):c.1726T>G (p.Tyr576Asp) rs185829887
NM_025137.4(SPG11):c.1727A>G (p.Tyr576Cys)
NM_025137.4(SPG11):c.1735+15G>A
NM_025137.4(SPG11):c.1735+18T>C
NM_025137.4(SPG11):c.1735+20C>T rs1459986980
NM_025137.4(SPG11):c.1735+3_1735+6del rs312262734
NM_025137.4(SPG11):c.1735+4A>G rs2141056546
NM_025137.4(SPG11):c.1735+9A>G
NM_025137.4(SPG11):c.1736-11T>C
NM_025137.4(SPG11):c.1736-7T>G
NM_025137.4(SPG11):c.173C>T (p.Thr58Met) rs780151569
NM_025137.4(SPG11):c.1743A>C (p.Glu581Asp) rs1276367363
NM_025137.4(SPG11):c.1755A>T (p.Pro585=) rs2141045191
NM_025137.4(SPG11):c.1758A>G (p.Ala586=)
NM_025137.4(SPG11):c.1758A>T (p.Ala586=)
NM_025137.4(SPG11):c.17G>C (p.Gly6Ala) rs1205261164
NM_025137.4(SPG11):c.1801C>G (p.Pro601Ala) rs775799559
NM_025137.4(SPG11):c.1801C>T (p.Pro601Ser) rs775799559
NM_025137.4(SPG11):c.1803C>T (p.Pro601=)
NM_025137.4(SPG11):c.1806A>G (p.Gln602=)
NM_025137.4(SPG11):c.180G>T (p.Ala60=)
NM_025137.4(SPG11):c.1813C>A (p.His605Asn)
NM_025137.4(SPG11):c.1818T>C (p.Phe606=)
NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs) rs1220982145
NM_025137.4(SPG11):c.1821A>C (p.Ser607=)
NM_025137.4(SPG11):c.1825C>T (p.Gln609Ter)
NM_025137.4(SPG11):c.1836T>C (p.Asn612=) rs2083990565
NM_025137.4(SPG11):c.1841del (p.Thr614fs)
NM_025137.4(SPG11):c.1842A>G (p.Thr614=)
NM_025137.4(SPG11):c.1854T>C (p.Leu618=)
NM_025137.4(SPG11):c.1857C>T (p.Asn619=) rs2141044869
NM_025137.4(SPG11):c.1858A>G (p.Asn620Asp) rs2141044861
NM_025137.4(SPG11):c.186C>T (p.Ser62=)
NM_025137.4(SPG11):c.1872G>C (p.Glu624Asp) rs2141044804
NM_025137.4(SPG11):c.1874T>C (p.Leu625Pro) rs1555456940
NM_025137.4(SPG11):c.1885A>T (p.Thr629Ser) rs2083988991
NM_025137.4(SPG11):c.1886C>T (p.Thr629Ile)
NM_025137.4(SPG11):c.1891+10G>A
NM_025137.4(SPG11):c.1891+14C>G
NM_025137.4(SPG11):c.1891+17G>A
NM_025137.4(SPG11):c.1891+18G>A
NM_025137.4(SPG11):c.1891+1G>T rs532072204
NM_025137.4(SPG11):c.1891+4A>C rs2141044751
NM_025137.4(SPG11):c.1891+9A>G
NM_025137.4(SPG11):c.1892-15T>G rs1595898317
NM_025137.4(SPG11):c.1892-17A>G
NM_025137.4(SPG11):c.1892-4A>G
NM_025137.4(SPG11):c.1892-6C>T
NM_025137.4(SPG11):c.1892A>G (p.Glu631Gly)
NM_025137.4(SPG11):c.1893A>G (p.Glu631=)
NM_025137.4(SPG11):c.1896A>G (p.Leu632=) rs1595898295
NM_025137.4(SPG11):c.1902A>G (p.Glu634=)
NM_025137.4(SPG11):c.1908G>A (p.Leu636=)
NM_025137.4(SPG11):c.1909C>T (p.Gln637Ter)
NM_025137.4(SPG11):c.190C>G (p.Gln64Glu) rs1566838280
NM_025137.4(SPG11):c.1910A>C (p.Gln637Pro) rs2083975912
NM_025137.4(SPG11):c.1913A>G (p.Lys638Arg) rs772835480
NM_025137.4(SPG11):c.1938C>T (p.Tyr646=)
NM_025137.4(SPG11):c.193G>A (p.Val65Met) rs999651004
NM_025137.4(SPG11):c.1941T>A (p.Ile647=)
NM_025137.4(SPG11):c.194T>G (p.Val65Gly)
NM_025137.4(SPG11):c.1959C>T (p.Phe653=)
NM_025137.4(SPG11):c.1970T>C (p.Phe657Ser) rs2141043523
NM_025137.4(SPG11):c.1973C>T (p.Pro658Leu) rs922368462
NM_025137.4(SPG11):c.1974T>C (p.Pro658=)
NM_025137.4(SPG11):c.1976G>C (p.Trp659Ser) rs2141043511
NM_025137.4(SPG11):c.1978A>C (p.Lys660Gln) rs2141043505
NM_025137.4(SPG11):c.1982T>C (p.Leu661Pro)
NM_025137.4(SPG11):c.1989T>A (p.Asp663Glu) rs1321387321
NM_025137.4(SPG11):c.1992T>C (p.Ala664=)
NM_025137.4(SPG11):c.1999G>T (p.Glu667Ter)
NM_025137.4(SPG11):c.19G>A (p.Val7Ile) rs774670657
NM_025137.4(SPG11):c.19G>T (p.Val7Phe) rs774670657
NM_025137.4(SPG11):c.1A>T (p.Met1Leu) rs2085195132
NM_025137.4(SPG11):c.2001A>G (p.Glu667=)
NM_025137.4(SPG11):c.2007T>C (p.Asp669=)
NM_025137.4(SPG11):c.2014G>A (p.Glu672Lys) rs2083972403
NM_025137.4(SPG11):c.2016A>G (p.Glu672=)
NM_025137.4(SPG11):c.201T>C (p.Ser67=)
NM_025137.4(SPG11):c.2025C>T (p.Pro675=) rs2141043340
NM_025137.4(SPG11):c.202_203dup (p.Leu68fs) rs773773579
NM_025137.4(SPG11):c.2032A>G (p.Lys678Glu) rs959317901
NM_025137.4(SPG11):c.2034G>T (p.Lys678Asn) rs2083971691
NM_025137.4(SPG11):c.2038_2039dup (p.Ser680fs) rs1595898055
NM_025137.4(SPG11):c.203T>C (p.Leu68Ser)
NM_025137.4(SPG11):c.2052_2055del (p.Lys684fs)
NM_025137.4(SPG11):c.2055A>G (p.Lys685=)
NM_025137.4(SPG11):c.2056C>T (p.Leu686Phe) rs1160045630
NM_025137.4(SPG11):c.2057T>C (p.Leu686Pro)
NM_025137.4(SPG11):c.2061C>T (p.Ser687=)
NM_025137.4(SPG11):c.2065G>A (p.Glu689Lys) rs2141043236
NM_025137.4(SPG11):c.2067+11A>C
NM_025137.4(SPG11):c.2067+18_2067+20del
NM_025137.4(SPG11):c.2067+20A>C
NM_025137.4(SPG11):c.2067+5G>A rs2141043201
NM_025137.4(SPG11):c.2067+7A>G rs1360895808
NM_025137.4(SPG11):c.2067+8C>G
NM_025137.4(SPG11):c.2067+8C>T rs374214706
NM_025137.4(SPG11):c.2068-12T>C rs1409759425
NM_025137.4(SPG11):c.2068-16G>A
NM_025137.4(SPG11):c.2068-17C>G
NM_025137.4(SPG11):c.2068-17C>T
NM_025137.4(SPG11):c.2068-1G>A
NM_025137.4(SPG11):c.2068-7T>A
NM_025137.4(SPG11):c.2068-7T>C
NM_025137.4(SPG11):c.2069A>G (p.Glu690Gly)
NM_025137.4(SPG11):c.2073T>G (p.Val691=)
NM_025137.4(SPG11):c.2079C>G (p.Ala693=)
NM_025137.4(SPG11):c.2081G>T (p.Ser694Ile)
NM_025137.4(SPG11):c.2086A>T (p.Ile696Phe)
NM_025137.4(SPG11):c.20T>C (p.Val7Ala) rs771083813
NM_025137.4(SPG11):c.2115G>A (p.Gln705=)
NM_025137.4(SPG11):c.2121C>A (p.Phe707Leu) rs1239554492
NM_025137.4(SPG11):c.2121C>T (p.Phe707=)
NM_025137.4(SPG11):c.2123del (p.Phe708fs)
NM_025137.4(SPG11):c.2125A>C (p.Arg709=)
NM_025137.4(SPG11):c.2127G>A (p.Arg709=)
NM_025137.4(SPG11):c.2128A>G (p.Ile710Val) rs779467011
NM_025137.4(SPG11):c.213C>T (p.Gly71=)
NM_025137.4(SPG11):c.2143G>T (p.Ala715Ser) rs2083900209
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.2147A>G (p.Gln716Arg) rs2141037997
NM_025137.4(SPG11):c.2156A>G (p.Glu719Gly) rs2141037979
NM_025137.4(SPG11):c.2157G>A (p.Glu719=)
NM_025137.4(SPG11):c.2163dup (p.Ile722fs) rs312262738
NM_025137.4(SPG11):c.2184G>C (p.Leu728Phe)
NM_025137.4(SPG11):c.218_221dup (p.Gly76fs) rs2141138155
NM_025137.4(SPG11):c.2191G>A (p.Asp731Asn) rs1327322138
NM_025137.4(SPG11):c.2193C>G (p.Asp731Glu)
NM_025137.4(SPG11):c.2196T>C (p.Asn732=) rs2141037849
NM_025137.4(SPG11):c.2198del (p.Asn732_Leu733insTer)
NM_025137.4(SPG11):c.219G>A (p.Arg73=)
NM_025137.4(SPG11):c.21C>A (p.Val7=) rs377135175
NM_025137.4(SPG11):c.21C>G (p.Val7=) rs377135175
NM_025137.4(SPG11):c.21C>T (p.Val7=) rs377135175
NM_025137.4(SPG11):c.2204A>G (p.Lys735Arg)
NM_025137.4(SPG11):c.2223C>T (p.Ala741=)
NM_025137.4(SPG11):c.2230del (p.Leu744fs)
NM_025137.4(SPG11):c.2233T>C (p.Leu745=)
NM_025137.4(SPG11):c.2238G>A (p.Lys746=)
NM_025137.4(SPG11):c.2244+10G>A rs144314414
NM_025137.4(SPG11):c.2244+10G>T rs144314414
NM_025137.4(SPG11):c.2244+5G>A rs1330702477
NM_025137.4(SPG11):c.2244+8G>A
NM_025137.4(SPG11):c.2245-13A>T
NM_025137.4(SPG11):c.2245-13_2245-12del
NM_025137.4(SPG11):c.2246G>A (p.Gly749Glu)
NM_025137.4(SPG11):c.2247G>A (p.Gly749=)
NM_025137.4(SPG11):c.224G>T (p.Gly75Val) rs922561928
NM_025137.4(SPG11):c.2253T>C (p.Asp751=)
NM_025137.4(SPG11):c.2254G>T (p.Val752Leu) rs1277935331
NM_025137.4(SPG11):c.225G>A (p.Gly75=)
NM_025137.4(SPG11):c.225G>C (p.Gly75=)
NM_025137.4(SPG11):c.2265del (p.Gln755fs) rs1215058780
NM_025137.4(SPG11):c.2268G>A (p.Leu756=) rs2083789720
NM_025137.4(SPG11):c.2278T>C (p.Cys760Arg)
NM_025137.4(SPG11):c.227G>A (p.Gly76Asp)
NM_025137.4(SPG11):c.2283C>T (p.Phe761=) rs1595891619
NM_025137.4(SPG11):c.2289A>G (p.Thr763=) rs1555455866
NM_025137.4(SPG11):c.228T>A (p.Gly76=)
NM_025137.4(SPG11):c.2295T>C (p.Asn765=) rs2141030021
NM_025137.4(SPG11):c.2304A>G (p.Ile768Met) rs1555455851
NM_025137.4(SPG11):c.2313T>C (p.Phe771=)
NM_025137.4(SPG11):c.2314T>G (p.Leu772Val)
NM_025137.4(SPG11):c.2316+10G>C
NM_025137.4(SPG11):c.2316+3A>C rs2083787952
NM_025137.4(SPG11):c.2316+5G>A rs879255274
NM_025137.4(SPG11):c.2317-10T>C
NM_025137.4(SPG11):c.2317-12T>G
NM_025137.4(SPG11):c.2317-14A>T
NM_025137.4(SPG11):c.2317-17_2317-14del
NM_025137.4(SPG11):c.2317-8T>C
NM_025137.4(SPG11):c.2317G>C (p.Val773Leu) rs766696581
NM_025137.4(SPG11):c.2317G>T (p.Val773Phe) rs766696581
NM_025137.4(SPG11):c.232T>G (p.Cys78Gly) rs2141138095
NM_025137.4(SPG11):c.2331del (p.Glu778fs) rs863224524
NM_025137.4(SPG11):c.2332G>A (p.Glu778Lys) rs1231809811
NM_025137.4(SPG11):c.2336_2339del (p.Lys779fs) rs1454768655
NM_025137.4(SPG11):c.233G>T (p.Cys78Phe)
NM_025137.4(SPG11):c.2343T>C (p.Tyr781=)
NM_025137.4(SPG11):c.2348C>T (p.Ser783Phe)
NM_025137.4(SPG11):c.2349T>C (p.Ser783=)
NM_025137.4(SPG11):c.2356G>T (p.Glu786Ter)
NM_025137.4(SPG11):c.2370A>C (p.Ile790=)
NM_025137.4(SPG11):c.2373C>T (p.Asp791=) rs1294501977
NM_025137.4(SPG11):c.2377G>T (p.Val793Leu) rs546601155
NM_025137.4(SPG11):c.2386G>C (p.Val796Leu)
NM_025137.4(SPG11):c.2387_2388dup (p.Glu797fs)
NM_025137.4(SPG11):c.23C>A (p.Ala8Glu) rs200939573
NM_025137.4(SPG11):c.23C>T (p.Ala8Val) rs200939573
NM_025137.4(SPG11):c.2400T>C (p.Tyr800=)
NM_025137.4(SPG11):c.240G>A (p.Leu80=)
NM_025137.4(SPG11):c.240G>C (p.Leu80=)
NM_025137.4(SPG11):c.240G>T (p.Leu80=)
NM_025137.4(SPG11):c.2414A>C (p.Gln805Pro) rs2141028960
NM_025137.4(SPG11):c.2421T>C (p.Asn807=) rs2083774098
NM_025137.4(SPG11):c.2423T>C (p.Met808Thr) rs1020636809
NM_025137.4(SPG11):c.242A>G (p.Glu81Gly) rs1555383956
NM_025137.4(SPG11):c.2436A>C (p.Ser812=) rs2141028889
NM_025137.4(SPG11):c.2444+11dup
NM_025137.4(SPG11):c.2444+13G>A
NM_025137.4(SPG11):c.2444+15C>A
NM_025137.4(SPG11):c.2444+1G>A rs312262743
NM_025137.4(SPG11):c.2444+1G>C rs312262743
NM_025137.4(SPG11):c.2444+3A>T rs1287398920
NM_025137.4(SPG11):c.2444+7T>C
NM_025137.4(SPG11):c.2444+8C>T
NM_025137.4(SPG11):c.2444+9A>G rs2083772568
NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)
NM_025137.4(SPG11):c.2445-14A>G
NM_025137.4(SPG11):c.2445-16A>G
NM_025137.4(SPG11):c.2445-18T>C
NM_025137.4(SPG11):c.2445-20del rs374899647
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_025137.4(SPG11):c.2445-7T>C
NM_025137.4(SPG11):c.244G>A (p.Gly82Ser) rs774004835
NM_025137.4(SPG11):c.2460A>G (p.Glu820=)
NM_025137.4(SPG11):c.246C>A (p.Gly82=)
NM_025137.4(SPG11):c.246C>T (p.Gly82=)
NM_025137.4(SPG11):c.2471dup (p.Lys825fs)
NM_025137.4(SPG11):c.2478C>T (p.His826=)
NM_025137.4(SPG11):c.2483C>T (p.Ser828Phe) rs2141028113
NM_025137.4(SPG11):c.248C>G (p.Pro83Arg) rs1465468992
NM_025137.4(SPG11):c.2490G>A (p.Leu830=) rs2141028079
NM_025137.4(SPG11):c.2494T>G (p.Ser832Ala) rs2083762073
NM_025137.4(SPG11):c.2496A>G (p.Ser832=)
NM_025137.4(SPG11):c.249C>G (p.Pro83=)
NM_025137.4(SPG11):c.24G>T (p.Ala8=)
NM_025137.4(SPG11):c.2505A>G (p.Lys835=)
NM_025137.4(SPG11):c.2508T>C (p.Tyr836=) rs770468335
NM_025137.4(SPG11):c.2509G>T (p.Asp837Tyr)
NM_025137.4(SPG11):c.251T>G (p.Phe84Cys) rs2085177672
NM_025137.4(SPG11):c.2523del (p.Glu841fs)
NM_025137.4(SPG11):c.2534A>G (p.Gln845Arg) rs1313372102
NM_025137.4(SPG11):c.2535G>A (p.Gln845=) rs2141027925
NM_025137.4(SPG11):c.2536dup (p.Asp846fs) rs2141027919
NM_025137.4(SPG11):c.2546T>C (p.Ile849Thr) rs779087194
NM_025137.4(SPG11):c.2565G>A (p.Leu855=)
NM_025137.4(SPG11):c.2565G>C (p.Leu855=)
NM_025137.4(SPG11):c.2568G>A (p.Trp856Ter)
NM_025137.4(SPG11):c.257+12G>A
NM_025137.4(SPG11):c.257+14G>A
NM_025137.4(SPG11):c.257+15A>G rs538988623
NM_025137.4(SPG11):c.257+17A>G rs201878138
NM_025137.4(SPG11):c.257+17A>T rs201878138
NM_025137.4(SPG11):c.257+18G>A
NM_025137.4(SPG11):c.257+1G>A
NM_025137.4(SPG11):c.257+8C>A rs769518000
NM_025137.4(SPG11):c.257+8C>T
NM_025137.4(SPG11):c.257+9T>G
NM_025137.4(SPG11):c.258-12T>C
NM_025137.4(SPG11):c.258-16A>C
NM_025137.4(SPG11):c.258-22_258-19del
NM_025137.4(SPG11):c.258-2A>G rs781665076
NM_025137.4(SPG11):c.258-6del rs373234269
NM_025137.4(SPG11):c.258-8T>G
NM_025137.4(SPG11):c.2581A>G (p.Thr861Ala) rs2083759221
NM_025137.4(SPG11):c.2583A>C (p.Thr861=) rs2141027797
NM_025137.4(SPG11):c.2586A>C (p.Gln862His) rs533427143
NM_025137.4(SPG11):c.258C>T (p.His86=)
NM_025137.4(SPG11):c.2592C>T (p.Ser864=)
NM_025137.4(SPG11):c.2601C>A (p.Leu867=)
NM_025137.4(SPG11):c.2606G>C (p.Arg869Thr)
NM_025137.4(SPG11):c.2621-13T>C rs1595889099
NM_025137.4(SPG11):c.2621-15dup rs577083743
NM_025137.4(SPG11):c.2621-16G>T rs905019416
NM_025137.4(SPG11):c.2621-18G>A
NM_025137.4(SPG11):c.2621-6A>G
NM_025137.4(SPG11):c.2621-7C>T
NM_025137.4(SPG11):c.2621-7dup
NM_025137.4(SPG11):c.2621-8del rs577083743
NM_025137.4(SPG11):c.2621-9_2621-8dup
NM_025137.4(SPG11):c.2621A>C (p.Glu874Ala) rs2083709845
NM_025137.4(SPG11):c.2625C>G (p.Tyr875Ter)
NM_025137.4(SPG11):c.2626A>G (p.Lys876Glu)
NM_025137.4(SPG11):c.2627A>G (p.Lys876Arg)
NM_025137.4(SPG11):c.2630C>T (p.Ser877Leu)
NM_025137.4(SPG11):c.2637C>T (p.Ser879=)
NM_025137.4(SPG11):c.2638C>T (p.Pro880Ser)
NM_025137.4(SPG11):c.2640T>C (p.Pro880=)
NM_025137.4(SPG11):c.264A>G (p.Leu88=) rs779845183
NM_025137.4(SPG11):c.2655A>G (p.Arg885=)
NM_025137.4(SPG11):c.2661C>T (p.Leu887=) rs2141024751
NM_025137.4(SPG11):c.2664A>G (p.Thr888=)
NM_025137.4(SPG11):c.2669G>T (p.Arg890Leu) rs376143651
NM_025137.4(SPG11):c.2670C>G (p.Arg890=)
NM_025137.4(SPG11):c.2670C>T (p.Arg890=)
NM_025137.4(SPG11):c.2672A>G (p.His891Arg) rs1215566981
NM_025137.4(SPG11):c.2678G>A (p.Trp893Ter) rs1555455266
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.4(SPG11):c.2686A>G (p.Ile896Val)
NM_025137.4(SPG11):c.2686A>T (p.Ile896Phe) rs753479999
NM_025137.4(SPG11):c.2689A>G (p.Ile897Val) rs2083707431
NM_025137.4(SPG11):c.2694A>G (p.Leu898=)
NM_025137.4(SPG11):c.2698A>T (p.Ile900Phe) rs1239083839
NM_025137.4(SPG11):c.2703A>G (p.Gly901=)
NM_025137.4(SPG11):c.2710C>G (p.Gln904Glu) rs760517153
NM_025137.4(SPG11):c.2714C>A (p.Thr905Asn)
NM_025137.4(SPG11):c.2716del (p.Gln906fs) rs312262747
NM_025137.4(SPG11):c.2717A>C (p.Gln906Pro)
NM_025137.4(SPG11):c.2718G>A (p.Gln906=)
NM_025137.4(SPG11):c.271G>T (p.Asp91Tyr)
NM_025137.4(SPG11):c.2732C>T (p.Ser911Leu) rs2141024543
NM_025137.4(SPG11):c.2737C>T (p.Gln913Ter) rs1555455246
NM_025137.4(SPG11):c.2737CAG[1] (p.Gln914del) rs763096648
NM_025137.4(SPG11):c.2751G>T (p.Trp917Cys) rs2083705120
NM_025137.4(SPG11):c.275C>T (p.Ser92Phe) rs749964630
NM_025137.4(SPG11):c.276_285del (p.Arg93fs) rs747220413
NM_025137.4(SPG11):c.277C>A (p.Arg93Ser)
NM_025137.4(SPG11):c.2781G>A (p.Gln927=) rs373088911
NM_025137.4(SPG11):c.2781G>T (p.Gln927His) rs373088911
NM_025137.4(SPG11):c.278G>A (p.Arg93His) rs149254262
NM_025137.4(SPG11):c.278G>T (p.Arg93Leu)
NM_025137.4(SPG11):c.27T>C (p.Ser9=)
NM_025137.4(SPG11):c.2802del (p.Asn933_Tyr934insTer)
NM_025137.4(SPG11):c.2808G>A (p.Arg936=)
NM_025137.4(SPG11):c.2808G>T (p.Arg936Ser) rs2083702773
NM_025137.4(SPG11):c.2820A>G (p.Leu940=)
NM_025137.4(SPG11):c.2829G>A (p.Leu943=) rs1555455226
NM_025137.4(SPG11):c.282C>G (p.Asn94Lys)
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly) rs312262748
NM_025137.4(SPG11):c.2834+15G>A
NM_025137.4(SPG11):c.2834+15G>C rs2141024220
NM_025137.4(SPG11):c.2834+15G>T
NM_025137.4(SPG11):c.2834+1G>A
NM_025137.4(SPG11):c.2834+20A>C
NM_025137.4(SPG11):c.2834+5_2834+7del rs759910630
NM_025137.4(SPG11):c.2844T>A (p.Val948=) rs2141015218
NM_025137.4(SPG11):c.2847T>C (p.Phe949=)
NM_025137.4(SPG11):c.2849del (p.Leu950fs) rs1470463921
NM_025137.4(SPG11):c.2849dup (p.Leu950fs) rs1470463921
NM_025137.4(SPG11):c.2851G>A (p.Ala951Thr) rs1431880035
NM_025137.4(SPG11):c.2856T>C (p.Ser952=)
NM_025137.4(SPG11):c.2857G>A (p.Glu953Lys) rs372906057
NM_025137.4(SPG11):c.2857G>C (p.Glu953Gln) rs372906057
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter) rs372906057
NM_025137.4(SPG11):c.2860C>T (p.Leu954=)
NM_025137.4(SPG11):c.2871T>C (p.Phe957=) rs760820546
NM_025137.4(SPG11):c.2874A>G (p.Glu958=)
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter) rs786204176
NM_025137.4(SPG11):c.2885T>C (p.Leu962Pro) rs759969829
NM_025137.4(SPG11):c.2892G>A (p.Leu964=)
NM_025137.4(SPG11):c.2901T>C (p.Ile967=)
NM_025137.4(SPG11):c.2906G>A (p.Gly969Asp) rs2083570700
NM_025137.4(SPG11):c.2910A>C (p.Val970=)
NM_025137.4(SPG11):c.2912T>G (p.Ile971Arg)
NM_025137.4(SPG11):c.2914C>T (p.Gln972Ter)
NM_025137.4(SPG11):c.2916G>A (p.Gln972=)
NM_025137.4(SPG11):c.2922C>T (p.Thr974=)
NM_025137.4(SPG11):c.2924T>C (p.Leu975Pro) rs758207568
NM_025137.4(SPG11):c.2925C>T (p.Leu975=)
NM_025137.4(SPG11):c.2928T>A (p.Pro976=) rs2141014954
NM_025137.4(SPG11):c.2933A>C (p.Gln978Pro) rs2083569563
NM_025137.4(SPG11):c.2934A>G (p.Gln978=) rs1595883979
NM_025137.4(SPG11):c.2938T>A (p.Tyr980Asn) rs1595883966
NM_025137.4(SPG11):c.2946C>T (p.Thr982=)
NM_025137.4(SPG11):c.297T>C (p.Thr99=)
NM_025137.4(SPG11):c.2983dup (p.Tyr995fs)
NM_025137.4(SPG11):c.2984A>G (p.Tyr995Cys)
NM_025137.4(SPG11):c.2985T>G (p.Tyr995Ter)
NM_025137.4(SPG11):c.2989T>C (p.Leu997=)
NM_025137.4(SPG11):c.2990T>A (p.Leu997Ter) rs1060501176
NM_025137.4(SPG11):c.2994G>A (p.Glu998=)
NM_025137.4(SPG11):c.29C>G (p.Ala10Gly) rs750165094
NM_025137.4(SPG11):c.29C>T (p.Ala10Val) rs750165094
NM_025137.4(SPG11):c.3000del (p.Leu1001fs) rs1555454488
NM_025137.4(SPG11):c.3005A>C (p.Gln1002Pro) rs2141014746
NM_025137.4(SPG11):c.3017A>G (p.Tyr1006Cys) rs1374505304
NM_025137.4(SPG11):c.3019dup (p.Val1007fs)
NM_025137.4(SPG11):c.3021C>G (p.Val1007=) rs1595883840
NM_025137.4(SPG11):c.3023A>C (p.Tyr1008Ser) rs776158206
NM_025137.4(SPG11):c.3032G>A (p.Cys1011Tyr)
NM_025137.4(SPG11):c.3034del (p.Tyr1012fs) rs2141014662
NM_025137.4(SPG11):c.3036C>G (p.Tyr1012Ter)
NM_025137.4(SPG11):c.3038+12G>A
NM_025137.4(SPG11):c.3038+12G>C
NM_025137.4(SPG11):c.3038+18A>G
NM_025137.4(SPG11):c.3038+8C>G
NM_025137.4(SPG11):c.3039-10T>G rs1567163243
NM_025137.4(SPG11):c.3039-13G>T
NM_025137.4(SPG11):c.3039-17G>C
NM_025137.4(SPG11):c.3039-20T>G
NM_025137.4(SPG11):c.3039-5T>C rs763224175
NM_025137.4(SPG11):c.3039-5_3039-4delinsAT rs2141011211
NM_025137.4(SPG11):c.3039-6A>G
NM_025137.4(SPG11):c.3039-6A>T
NM_025137.4(SPG11):c.3039-7T>C
NM_025137.4(SPG11):c.3042dup (p.Ser1015Ter)
NM_025137.4(SPG11):c.3059C>G (p.Pro1020Arg) rs2141011170
NM_025137.4(SPG11):c.3067G>T (p.Glu1023Ter)
NM_025137.4(SPG11):c.3070A>T (p.Lys1024Ter) rs1157530441
NM_025137.4(SPG11):c.3074A>T (p.Lys1025Ile) rs1567163203
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs) rs746971952
NM_025137.4(SPG11):c.3075A>T (p.Lys1025Asn)
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.3077A>T (p.Glu1026Val) rs1567163181
NM_025137.4(SPG11):c.3077_3078del (p.Glu1026fs)
NM_025137.4(SPG11):c.3084T>C (p.His1028=)
NM_025137.4(SPG11):c.3092A>G (p.His1031Arg) rs2141011065
NM_025137.4(SPG11):c.3095C>G (p.Pro1032Arg) rs141106870
NM_025137.4(SPG11):c.3098G>T (p.Trp1033Leu) rs1595881991
NM_025137.4(SPG11):c.30T>C (p.Ala10=) rs765190254
NM_025137.4(SPG11):c.3110dup (p.Leu1037fs) rs2141011028
NM_025137.4(SPG11):c.3114_3145+45del rs2083509815
NM_025137.4(SPG11):c.3122G>C (p.Arg1041Pro)
NM_025137.4(SPG11):c.3124C>G (p.Gln1042Glu)
NM_025137.4(SPG11):c.3132C>G (p.Ala1044=) rs770666794
NM_025137.4(SPG11):c.3132C>T (p.Ala1044=)
NM_025137.4(SPG11):c.3138C>T (p.Asn1046=) rs2083512162
NM_025137.4(SPG11):c.3140T>G (p.Leu1047Ter) rs2141010951
NM_025137.4(SPG11):c.3143_3144dup (p.Asp1049fs)
NM_025137.4(SPG11):c.3145+11A>G
NM_025137.4(SPG11):c.3145+13T>C
NM_025137.4(SPG11):c.3145+15T>C
NM_025137.4(SPG11):c.3145+19A>G
NM_025137.4(SPG11):c.3145+1G>T rs956922949
NM_025137.4(SPG11):c.3145+3A>G rs755042849
NM_025137.4(SPG11):c.3146-13T>C
NM_025137.4(SPG11):c.3146-16G>A
NM_025137.4(SPG11):c.3146-17T>C rs770702010
NM_025137.4(SPG11):c.3146-19A>G
NM_025137.4(SPG11):c.3146-20C>T
NM_025137.4(SPG11):c.3146-4C>T rs747053234
NM_025137.4(SPG11):c.3146-5T>A
NM_025137.4(SPG11):c.3146A>T (p.Asp1049Val) rs2083444672
NM_025137.4(SPG11):c.3151A>G (p.Lys1051Glu) rs1595879028
NM_025137.4(SPG11):c.3153A>G (p.Lys1051=)
NM_025137.4(SPG11):c.3154C>T (p.Leu1052=)
NM_025137.4(SPG11):c.315C>T (p.Leu105=)
NM_025137.4(SPG11):c.3168T>C (p.Ala1056=) rs2083444214
NM_025137.4(SPG11):c.3175_3176delinsTG (p.Ala1059Ter)
NM_025137.4(SPG11):c.3184C>G (p.Gln1062Glu)
NM_025137.4(SPG11):c.3184C>T (p.Gln1062Ter) rs370252831
NM_025137.4(SPG11):c.3185A>C (p.Gln1062Pro) rs146520557
NM_025137.4(SPG11):c.3186G>C (p.Gln1062His) rs11070430
NM_025137.4(SPG11):c.3192del (p.Ile1065fs) rs1595878941
NM_025137.4(SPG11):c.3198C>T (p.Pro1066=) rs1595878904
NM_025137.4(SPG11):c.3203A>G (p.Asn1068Ser) rs1439670067
NM_025137.4(SPG11):c.3207G>A (p.Gln1069=)
NM_025137.4(SPG11):c.3208G>A (p.Ala1070Thr)
NM_025137.4(SPG11):c.3213_3214insCCCT (p.Val1072fs) rs767798272
NM_025137.4(SPG11):c.3231G>A (p.Leu1077=)
NM_025137.4(SPG11):c.3237A>G (p.Gly1079=)
NM_025137.4(SPG11):c.3237A>T (p.Gly1079=)
NM_025137.4(SPG11):c.3244C>G (p.Leu1082Val) rs1183035882
NM_025137.4(SPG11):c.3247C>A (p.Leu1083Met) rs1595878796
NM_025137.4(SPG11):c.324T>A (p.Gly108=) rs1555383447
NM_025137.4(SPG11):c.3250G>A (p.Ala1084Thr)
NM_025137.4(SPG11):c.3262A>G (p.Thr1088Ala) rs1221018693
NM_025137.4(SPG11):c.3266T>G (p.Met1089Arg) rs1291491649
NM_025137.4(SPG11):c.3269A>G (p.Tyr1090Cys) rs2083441234
NM_025137.4(SPG11):c.3282T>C (p.Gly1094=)
NM_025137.4(SPG11):c.3282T>G (p.Gly1094=)
NM_025137.4(SPG11):c.3285C>T (p.Val1095=) rs2141004913
NM_025137.4(SPG11):c.3289C>T (p.Gln1097Ter)
NM_025137.4(SPG11):c.3291+13C>G
NM_025137.4(SPG11):c.3291+16T>C
NM_025137.4(SPG11):c.3291+16T>G
NM_025137.4(SPG11):c.3291+1G>T rs312262753
NM_025137.4(SPG11):c.3291+20A>G
NM_025137.4(SPG11):c.3291+8T>C
NM_025137.4(SPG11):c.3292-10_3292-9insG
NM_025137.4(SPG11):c.3292-12T>C
NM_025137.4(SPG11):c.3292-13T>C
NM_025137.4(SPG11):c.3292-16C>G
NM_025137.4(SPG11):c.3292-16C>T
NM_025137.4(SPG11):c.3292-1G>C
NM_025137.4(SPG11):c.3292-4T>G
NM_025137.4(SPG11):c.3292-5C>T rs2140999966
NM_025137.4(SPG11):c.3292-7del
NM_025137.4(SPG11):c.3292-7dup
NM_025137.4(SPG11):c.3292-8_3292-7dup rs753333408
NM_025137.4(SPG11):c.3292G>T (p.Val1098Phe)
NM_025137.4(SPG11):c.3295G>A (p.Val1099Ile)
NM_025137.4(SPG11):c.3311dup (p.Asn1104fs) rs753257469
NM_025137.4(SPG11):c.3315A>G (p.Glu1105=)
NM_025137.4(SPG11):c.331T>A (p.Tyr111Asn) rs2085074518
NM_025137.4(SPG11):c.3321_3324del (p.Asn1106_Cys1107insTer) rs768131119
NM_025137.4(SPG11):c.3322T>G (p.Leu1108Val)
NM_025137.4(SPG11):c.332A>T (p.Tyr111Phe) rs2141130065
NM_025137.4(SPG11):c.3335A>G (p.Asp1112Gly) rs950287511
NM_025137.4(SPG11):c.3338C>A (p.Pro1113His) rs2083380998
NM_025137.4(SPG11):c.3340C>T (p.Gln1114Ter)
NM_025137.4(SPG11):c.3348G>A (p.Leu1116=)
NM_025137.4(SPG11):c.3357A>G (p.Ala1119=)
NM_025137.4(SPG11):c.3366T>C (p.Pro1122=) rs774332666
NM_025137.4(SPG11):c.3369C>T (p.Tyr1123=)
NM_025137.4(SPG11):c.3374A>G (p.Lys1125Arg) rs1421555064
NM_025137.4(SPG11):c.337C>T (p.Leu113=) rs878855128
NM_025137.4(SPG11):c.3388C>G (p.Leu1130Val)
NM_025137.4(SPG11):c.3390C>G (p.Leu1130=)
NM_025137.4(SPG11):c.3393C>T (p.Phe1131=)
NM_025137.4(SPG11):c.3399G>T (p.Gln1133His) rs1051475016
NM_025137.4(SPG11):c.339G>C (p.Leu113=) rs373238538
NM_025137.4(SPG11):c.339G>T (p.Leu113=) rs373238538
NM_025137.4(SPG11):c.33T>A (p.Ala11=)
NM_025137.4(SPG11):c.3408T>A (p.Pro1136=)
NM_025137.4(SPG11):c.3410dup (p.Pro1137_Ser1138insTer) rs1470512931
NM_025137.4(SPG11):c.3417C>T (p.Val1139=)
NM_025137.4(SPG11):c.341T>C (p.Leu114Pro)
NM_025137.4(SPG11):c.3423A>G (p.Pro1141=)
NM_025137.4(SPG11):c.3433A>G (p.Thr1145Ala) rs755490045
NM_025137.4(SPG11):c.3438C>T (p.Ile1146=) rs1484117125
NM_025137.4(SPG11):c.3440A>G (p.Tyr1147Cys)
NM_025137.4(SPG11):c.3453+10T>C rs2083377248
NM_025137.4(SPG11):c.3453+17G>T
NM_025137.4(SPG11):c.3453+19C>G
NM_025137.4(SPG11):c.3453+19C>T
NM_025137.4(SPG11):c.3453+6_3453+7insCT
NM_025137.4(SPG11):c.3453+8A>T
NM_025137.4(SPG11):c.3454-13T>C
NM_025137.4(SPG11):c.3454-16T>G
NM_025137.4(SPG11):c.3454-20T>C
NM_025137.4(SPG11):c.3454-6T>C rs2140994495
NM_025137.4(SPG11):c.3457T>G (p.Leu1153Val) rs2140994487
NM_025137.4(SPG11):c.3458T>C (p.Leu1153Ser) rs2083311354
NM_025137.4(SPG11):c.3459A>C (p.Leu1153Phe)
NM_025137.4(SPG11):c.3461C>T (p.Ser1154Leu) rs2140994460
NM_025137.4(SPG11):c.3471T>C (p.Asp1157=)
NM_025137.4(SPG11):c.3472C>G (p.Pro1158Ala) rs750011115
NM_025137.4(SPG11):c.3474T>G (p.Pro1158=)
NM_025137.4(SPG11):c.347A>G (p.Tyr116Cys) rs1186964654
NM_025137.4(SPG11):c.3480A>G (p.Arg1160=)
NM_025137.4(SPG11):c.3488G>T (p.Gly1163Val) rs376821867
NM_025137.4(SPG11):c.3492G>T (p.Trp1164Cys) rs2083310287
NM_025137.4(SPG11):c.349G>T (p.Glu117Ter) rs312262711
NM_025137.4(SPG11):c.34T>C (p.Ser12Pro) rs753871631
NM_025137.4(SPG11):c.3502A>G (p.Asn1168Asp) rs763749443
NM_025137.4(SPG11):c.3504C>A (p.Asn1168Lys) rs199712393
NM_025137.4(SPG11):c.3506C>T (p.Thr1169Ile) rs2083309611
NM_025137.4(SPG11):c.3508C>A (p.Leu1170Ile) rs534771304
NM_025137.4(SPG11):c.3514dup (p.Ile1172fs)
NM_025137.4(SPG11):c.3516A>G (p.Ile1172Met)
NM_025137.4(SPG11):c.3520+10C>G
NM_025137.4(SPG11):c.3520+11A>G
NM_025137.4(SPG11):c.3520+13G>T
NM_025137.4(SPG11):c.3520+14G>A rs1198359789
NM_025137.4(SPG11):c.3520+17A>G
NM_025137.4(SPG11):c.3520+20T>A rs376883385
NM_025137.4(SPG11):c.3521-2A>G
NM_025137.4(SPG11):c.3521-4C>G rs2140982563
NM_025137.4(SPG11):c.3521-6C>T
NM_025137.4(SPG11):c.3521-7C>G rs2083161976
NM_025137.4(SPG11):c.3521-9T>A rs1395728939
NM_025137.4(SPG11):c.3522T>G (p.Asp1174Glu) rs777278944
NM_025137.4(SPG11):c.3525A>C (p.Ala1175=)
NM_025137.4(SPG11):c.3527G>A (p.Trp1176Ter)
NM_025137.4(SPG11):c.3538C>G (p.Pro1180Ala) rs747910594
NM_025137.4(SPG11):c.3542A>G (p.His1181Arg) rs912012668
NM_025137.4(SPG11):c.3548C>G (p.Ser1183Cys)
NM_025137.4(SPG11):c.354T>C (p.Phe118=) rs1435339925
NM_025137.4(SPG11):c.3552C>T (p.Ser1184=) rs367780059
NM_025137.4(SPG11):c.3558C>T (p.Asp1186=) rs201902382
NM_025137.4(SPG11):c.3571T>A (p.Tyr1191Asn)
NM_025137.4(SPG11):c.3573dup (p.Ala1192fs) rs2140982382
NM_025137.4(SPG11):c.3592A>G (p.Asn1198Asp) rs2083159214
NM_025137.4(SPG11):c.3594T>C (p.Asn1198=)
NM_025137.4(SPG11):c.3595T>G (p.Phe1199Val) rs774716138
NM_025137.4(SPG11):c.359T>G (p.Leu120Trp) rs764858234
NM_025137.4(SPG11):c.3609A>T (p.Leu1203Phe) rs1390671994
NM_025137.4(SPG11):c.3614A>G (p.Asn1205Ser)
NM_025137.4(SPG11):c.3614A>T (p.Asn1205Ile) rs1451774392
NM_025137.4(SPG11):c.3619C>T (p.Arg1207Trp) rs199986067
NM_025137.4(SPG11):c.3624A>G (p.Pro1208=)
NM_025137.4(SPG11):c.3624A>T (p.Pro1208=)
NM_025137.4(SPG11):c.362A>G (p.Lys121Arg)
NM_025137.4(SPG11):c.3633A>G (p.Ala1211=) rs1464516168
NM_025137.4(SPG11):c.3642T>A (p.Thr1214=)
NM_025137.4(SPG11):c.3646C>G (p.Leu1216Val) rs12902253
NM_025137.4(SPG11):c.3651C>A (p.Val1217=)
NM_025137.4(SPG11):c.3657A>G (p.Glu1219=)
NM_025137.4(SPG11):c.3662T>C (p.Ile1221Thr) rs756274932
NM_025137.4(SPG11):c.3662_3665del (p.Ile1221fs)
NM_025137.4(SPG11):c.3670A>C (p.Lys1224Gln) rs2140982065
NM_025137.4(SPG11):c.3672G>A (p.Lys1224=) rs752901786
NM_025137.4(SPG11):c.3677C>G (p.Pro1226Arg) rs1478064859
NM_025137.4(SPG11):c.3677C>T (p.Pro1226Leu) rs1478064859
NM_025137.4(SPG11):c.3678C>G (p.Pro1226=) rs2140982045
NM_025137.4(SPG11):c.367G>A (p.Gly123Arg)
NM_025137.4(SPG11):c.3681G>A (p.Lys1227=)
NM_025137.4(SPG11):c.3686+16A>G
NM_025137.4(SPG11):c.3686+17T>C
NM_025137.4(SPG11):c.3686+20T>A
NM_025137.4(SPG11):c.3686+2_3686+3del rs1268481547
NM_025137.4(SPG11):c.3687-13C>G
NM_025137.4(SPG11):c.3687-13_3687-9del rs766788316
NM_025137.4(SPG11):c.3687-14C>A
NM_025137.4(SPG11):c.3687-14C>T
NM_025137.4(SPG11):c.3687-1_3687delinsTA
NM_025137.4(SPG11):c.3687-2A>G
NM_025137.4(SPG11):c.3687-7T>G rs1264219476
NM_025137.4(SPG11):c.3687-9C>G
NM_025137.4(SPG11):c.3691C>T (p.Gln1231Ter)
NM_025137.4(SPG11):c.3696A>G (p.Gln1232=)
NM_025137.4(SPG11):c.3702C>A (p.Gly1234=)
NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs) rs750663981
NM_025137.4(SPG11):c.3729C>T (p.Ser1243=)
NM_025137.4(SPG11):c.3736_3746del (p.His1246fs) rs2140978275
NM_025137.4(SPG11):c.373T>C (p.Cys125Arg) rs2141129973
NM_025137.4(SPG11):c.3741dup (p.Pro1248fs) rs312262757
NM_025137.4(SPG11):c.3742C>A (p.Pro1248Thr) rs2140978285
NM_025137.4(SPG11):c.3748A>G (p.Ile1250Val) rs2140978260
NM_025137.4(SPG11):c.3759A>G (p.Ala1253=)
NM_025137.4(SPG11):c.3778T>G (p.Leu1260Val) rs776154524
NM_025137.4(SPG11):c.3784G>T (p.Gly1262Cys) rs2083108639
NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val) rs1057518874
NM_025137.4(SPG11):c.3789_3797del (p.Asp1264_Leu1266del) rs2140978149
NM_025137.4(SPG11):c.378T>C (p.Asp126=)
NM_025137.4(SPG11):c.3798C>G (p.Leu1266=)
NM_025137.4(SPG11):c.3804C>G (p.Leu1268=)
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp) rs1555451521
NM_025137.4(SPG11):c.380C>T (p.Ala127Val) rs2085073055
NM_025137.4(SPG11):c.3814A>C (p.Met1272Leu)
NM_025137.4(SPG11):c.3814A>G (p.Met1272Val) rs2083107613
NM_025137.4(SPG11):c.3816G>C (p.Met1272Ile)
NM_025137.4(SPG11):c.3818A>C (p.Lys1273Thr) rs76389165
NM_025137.4(SPG11):c.3822G>C (p.Val1274=)
NM_025137.4(SPG11):c.3824C>A (p.Ala1275Asp)
NM_025137.4(SPG11):c.3828T>C (p.Asn1276=)
NM_025137.4(SPG11):c.3839G>C (p.Ser1280Thr)
NM_025137.4(SPG11):c.3846G>A (p.Lys1282=)
NM_025137.4(SPG11):c.3853A>G (p.Asn1285Asp) rs1422320754
NM_025137.4(SPG11):c.3861T>C (p.Asp1287=)
NM_025137.4(SPG11):c.3873C>T (p.Ser1291=)
NM_025137.4(SPG11):c.3880A>G (p.Arg1294Gly) rs1595863721
NM_025137.4(SPG11):c.3889G>T (p.Val1297Leu)
NM_025137.4(SPG11):c.3892+10C>A rs907855830
NM_025137.4(SPG11):c.3892+12T>G
NM_025137.4(SPG11):c.3892+14T>C
NM_025137.4(SPG11):c.3892+14del
NM_025137.4(SPG11):c.3892+16T>C
NM_025137.4(SPG11):c.3892+20G>T
NM_025137.4(SPG11):c.3892+3dup rs1265100911
NM_025137.4(SPG11):c.3892+7C>T
NM_025137.4(SPG11):c.3892+9C>A rs1567151053
NM_025137.4(SPG11):c.3893-11A>T
NM_025137.4(SPG11):c.3893-13A>G
NM_025137.4(SPG11):c.3893-14T>A
NM_025137.4(SPG11):c.3893-14_3902inv
NM_025137.4(SPG11):c.3893-20_3893-9del rs765375192
NM_025137.4(SPG11):c.3893-4A>C
NM_025137.4(SPG11):c.3893-5T>A
NM_025137.4(SPG11):c.3893-6T>C
NM_025137.4(SPG11):c.3893-7C>T
NM_025137.4(SPG11):c.3893-8T>A
NM_025137.4(SPG11):c.3893-8T>C
NM_025137.4(SPG11):c.3893C>G (p.Ala1298Gly)
NM_025137.4(SPG11):c.3901C>A (p.Leu1301Ile) rs2140977252
NM_025137.4(SPG11):c.3901C>T (p.Leu1301=)
NM_025137.4(SPG11):c.3903A>G (p.Leu1301=)
NM_025137.4(SPG11):c.3905C>T (p.Ser1302Phe)
NM_025137.4(SPG11):c.3906T>C (p.Ser1302=)
NM_025137.4(SPG11):c.3909del (p.Lys1303fs) rs2140977221
NM_025137.4(SPG11):c.390G>A (p.Leu130=)
NM_025137.4(SPG11):c.3914C>G (p.Ala1305Gly) rs746116309
NM_025137.4(SPG11):c.3922G>A (p.Glu1308Lys) rs779198786
NM_025137.4(SPG11):c.3930A>T (p.Thr1310=)
NM_025137.4(SPG11):c.3930_3932del (p.Thr1312del) rs759504944
NM_025137.4(SPG11):c.3932C>T (p.Thr1311Ile)
NM_025137.4(SPG11):c.3938A>T (p.Glu1313Val) rs1567150790
NM_025137.4(SPG11):c.3943T>C (p.Leu1315=)
NM_025137.4(SPG11):c.3951T>C (p.Val1317=)
NM_025137.4(SPG11):c.3960A>G (p.Glu1320=)
NM_025137.4(SPG11):c.3967A>C (p.Thr1323Pro)
NM_025137.4(SPG11):c.396C>T (p.Ser132=)
NM_025137.4(SPG11):c.3976A>G (p.Ser1326Gly)
NM_025137.4(SPG11):c.3978C>T (p.Ser1326=)
NM_025137.4(SPG11):c.3980_3986del (p.Ile1327fs)
NM_025137.4(SPG11):c.3986A>G (p.Gln1329Arg) rs2140976920
NM_025137.4(SPG11):c.3987A>G (p.Gln1329=) rs2140976916
NM_025137.4(SPG11):c.3997A>T (p.Lys1333Ter) rs2140976871
NM_025137.4(SPG11):c.3998del (p.Lys1333fs)
NM_025137.4(SPG11):c.399T>C (p.Cys133=) rs2141129858
NM_025137.4(SPG11):c.4001+13C>A
NM_025137.4(SPG11):c.4001+14A>G
NM_025137.4(SPG11):c.4001+15G>A rs771279650
NM_025137.4(SPG11):c.4001+16T>A
NM_025137.4(SPG11):c.4001+7G>A
NM_025137.4(SPG11):c.4002-16C>G rs2083059720
NM_025137.4(SPG11):c.4002-18C>T
NM_025137.4(SPG11):c.4002-7_4002-1del
NM_025137.4(SPG11):c.4008C>G (p.Ser1336=)
NM_025137.4(SPG11):c.4012G>C (p.Glu1338Gln) rs1555451163
NM_025137.4(SPG11):c.4014A>G (p.Glu1338=)
NM_025137.4(SPG11):c.4035A>G (p.Leu1345=) rs2140973839
NM_025137.4(SPG11):c.4043dup (p.Phe1349fs) rs2083058016
NM_025137.4(SPG11):c.4045T>A (p.Phe1349Ile)
NM_025137.4(SPG11):c.4047C>T (p.Phe1349=)
NM_025137.4(SPG11):c.4052G>A (p.Arg1351Lys) rs564171625
NM_025137.4(SPG11):c.4056A>C (p.Leu1352=)
NM_025137.4(SPG11):c.4063A>G (p.Met1355Val) rs2140973745
NM_025137.4(SPG11):c.4065dup (p.Lys1356fs)
NM_025137.4(SPG11):c.4072del (p.Ser1358fs)
NM_025137.4(SPG11):c.4075A>G (p.Ile1359Val)
NM_025137.4(SPG11):c.4077A>T (p.Ile1359=) rs541172391
NM_025137.4(SPG11):c.4082A>C (p.Tyr1361Ser)
NM_025137.4(SPG11):c.4083C>T (p.Tyr1361=)
NM_025137.4(SPG11):c.4096G>A (p.Ala1366Thr) rs1197681500
NM_025137.4(SPG11):c.4097C>G (p.Ala1366Gly) rs774455763
NM_025137.4(SPG11):c.409G>A (p.Ala137Thr) rs1218211158
NM_025137.4(SPG11):c.4107_4109delinsAG (p.Asn1369fs)
NM_025137.4(SPG11):c.4119G>A (p.Gln1373=)
NM_025137.4(SPG11):c.4122C>G (p.Phe1374Leu) rs1194478318
NM_025137.4(SPG11):c.4137A>T (p.Gln1379His) rs748617459
NM_025137.4(SPG11):c.4143C>T (p.His1381=)
NM_025137.4(SPG11):c.4146C>T (p.Asn1382=)
NM_025137.4(SPG11):c.4149C>T (p.Tyr1383=)
NM_025137.4(SPG11):c.4155A>C (p.Pro1385=) rs1328264036
NM_025137.4(SPG11):c.415C>G (p.Gln139Glu)
NM_025137.4(SPG11):c.4161+14T>C
NM_025137.4(SPG11):c.4161+14T>G
NM_025137.4(SPG11):c.4161+9C>G rs1555451101
NM_025137.4(SPG11):c.4162-10T>C rs765557765
NM_025137.4(SPG11):c.4162-11A>G
NM_025137.4(SPG11):c.4162-13A>G
NM_025137.4(SPG11):c.4162-4C>A
NM_025137.4(SPG11):c.4162-4C>T rs777010404
NM_025137.4(SPG11):c.4164G>A (p.Val1388=)
NM_025137.4(SPG11):c.4164G>C (p.Val1388=)
NM_025137.4(SPG11):c.4173T>C (p.Leu1391=)
NM_025137.4(SPG11):c.4185C>T (p.Phe1395=)
NM_025137.4(SPG11):c.4187G>T (p.Ser1396Ile) rs1390507027
NM_025137.4(SPG11):c.4188C>T (p.Ser1396=)
NM_025137.4(SPG11):c.4190C>T (p.Pro1397Leu) rs1595860601
NM_025137.4(SPG11):c.4198C>A (p.Gln1400Lys)
NM_025137.4(SPG11):c.4198C>T (p.Gln1400Ter)
NM_025137.4(SPG11):c.419del (p.Lys140fs)
NM_025137.4(SPG11):c.4200A>G (p.Gln1400=)
NM_025137.4(SPG11):c.4204C>A (p.His1402Asn) rs756973532
NM_025137.4(SPG11):c.4206C>T (p.His1402=)
NM_025137.4(SPG11):c.4207T>C (p.Leu1403=)
NM_025137.4(SPG11):c.420G>A (p.Lys140=) rs1048849923
NM_025137.4(SPG11):c.4212G>A (p.Arg1404=) rs2140972253
NM_025137.4(SPG11):c.4227C>G (p.Asn1409Lys) rs1377515652
NM_025137.4(SPG11):c.4230G>A (p.Leu1410=)
NM_025137.4(SPG11):c.4231C>T (p.Pro1411Ser) rs755918798
NM_025137.4(SPG11):c.4232C>T (p.Pro1411Leu) rs2140972200
NM_025137.4(SPG11):c.4233C>G (p.Pro1411=) rs758004741
NM_025137.4(SPG11):c.4233C>T (p.Pro1411=) rs758004741
NM_025137.4(SPG11):c.4237delinsTA (p.Val1413fs) rs2083036101
NM_025137.4(SPG11):c.4239G>A (p.Val1413=)
NM_025137.4(SPG11):c.4245C>G (p.Thr1415=)
NM_025137.4(SPG11):c.4252del (p.Met1418fs)
NM_025137.4(SPG11):c.4269C>G (p.Val1423=)
NM_025137.4(SPG11):c.4272C>T (p.Cys1424=)
NM_025137.4(SPG11):c.4281C>T (p.Cys1427=)
NM_025137.4(SPG11):c.4284C>A (p.Pro1428=) rs1485815455
NM_025137.4(SPG11):c.42C>A (p.Gly14=) rs376542524
NM_025137.4(SPG11):c.42C>G (p.Gly14=)
NM_025137.4(SPG11):c.42C>T (p.Gly14=)
NM_025137.4(SPG11):c.4304A>G (p.Lys1435Arg) rs2083034008
NM_025137.4(SPG11):c.430G>A (p.Asp144Asn)
NM_025137.4(SPG11):c.430G>T (p.Asp144Tyr) rs747312770
NM_025137.4(SPG11):c.4311G>A (p.Glu1437=)
NM_025137.4(SPG11):c.4317C>T (p.Thr1439=) rs1408703691
NM_025137.4(SPG11):c.4319A>T (p.Asp1440Val) rs2140971917
NM_025137.4(SPG11):c.4325T>C (p.Phe1442Ser) rs2140971902
NM_025137.4(SPG11):c.4327G>A (p.Glu1443Lys) rs1338577311
NM_025137.4(SPG11):c.4335G>A (p.Leu1445=)
NM_025137.4(SPG11):c.4338C>T (p.Leu1446=) rs1016759628
NM_025137.4(SPG11):c.4339C>T (p.Gln1447Ter)
NM_025137.4(SPG11):c.433dup (p.Gln145fs) rs780266075
NM_025137.4(SPG11):c.4341A>G (p.Gln1447=) rs369058599
NM_025137.4(SPG11):c.434A>G (p.Gln145Arg) rs780634621
NM_025137.4(SPG11):c.4353G>A (p.Glu1451=)
NM_025137.4(SPG11):c.4356A>C (p.Pro1452=)
NM_025137.4(SPG11):c.435A>C (p.Gln145His)
NM_025137.4(SPG11):c.4365G>A (p.Trp1455Ter) rs138103656
NM_025137.4(SPG11):c.437A>C (p.Asp146Ala) rs182535774
NM_025137.4(SPG11):c.437A>G (p.Asp146Gly) rs182535774
NM_025137.4(SPG11):c.4383A>G (p.Glu1461=) rs764466777
NM_025137.4(SPG11):c.4384G>A (p.Ala1462Thr) rs2140971741
NM_025137.4(SPG11):c.4389G>C (p.Val1463=)
NM_025137.4(SPG11):c.438T>C (p.Asp146=)
NM_025137.4(SPG11):c.4392A>G (p.Lys1464=)
NM_025137.4(SPG11):c.4401C>T (p.Ala1467=) rs1266766497
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala) rs2083030697
NM_025137.4(SPG11):c.4404T>G (p.Pro1468=) rs2140971681
NM_025137.4(SPG11):c.440T>C (p.Ile147Thr) rs547491883
NM_025137.4(SPG11):c.440T>G (p.Ile147Ser) rs547491883
NM_025137.4(SPG11):c.4417C>G (p.Leu1473Val) rs2140971629
NM_025137.4(SPG11):c.4418T>G (p.Leu1473Arg)
NM_025137.4(SPG11):c.4419G>A (p.Leu1473=)
NM_025137.4(SPG11):c.442+12C>T
NM_025137.4(SPG11):c.442+15G>T
NM_025137.4(SPG11):c.442+17G>A rs2141129638
NM_025137.4(SPG11):c.442+1G>A
NM_025137.4(SPG11):c.442+1G>C rs312262715
NM_025137.4(SPG11):c.442+20C>T
NM_025137.4(SPG11):c.442+4_442+7del
NM_025137.4(SPG11):c.442+5G>A rs752482400
NM_025137.4(SPG11):c.442+9C>A rs2141129671
NM_025137.4(SPG11):c.4421C>T (p.Ala1474Val)
NM_025137.4(SPG11):c.443-12T>A
NM_025137.4(SPG11):c.443-13T>G
NM_025137.4(SPG11):c.443-14C>T
NM_025137.4(SPG11):c.443-1G>A rs1040633382
NM_025137.4(SPG11):c.443-20A>T rs2141126904
NM_025137.4(SPG11):c.443-5T>C
NM_025137.4(SPG11):c.443-5del
NM_025137.4(SPG11):c.443-6T>C rs754758152
NM_025137.4(SPG11):c.4431C>T (p.Leu1477=)
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter) rs2140971559
NM_025137.4(SPG11):c.4434+10A>G
NM_025137.4(SPG11):c.4434+15A>G
NM_025137.4(SPG11):c.4434+1G>A rs1567148391
NM_025137.4(SPG11):c.4434+3G>A
NM_025137.4(SPG11):c.4434+6_4434+7insGT rs1374893382
NM_025137.4(SPG11):c.4434+8T>A
NM_025137.4(SPG11):c.4435-2A>G rs1555450825
NM_025137.4(SPG11):c.4435-3C>T rs1555450826
NM_025137.4(SPG11):c.4435-7G>A rs199685245
NM_025137.4(SPG11):c.4435-7G>C
NM_025137.4(SPG11):c.4435-7G>T
NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp) rs374303102
NM_025137.4(SPG11):c.4436G>T (p.Gly1479Val)
NM_025137.4(SPG11):c.4440C>T (p.Ala1480=)
NM_025137.4(SPG11):c.4453_4458delinsGAGGCCAGAACACTGAGGATAGGGGCCTGTTGTTTCACTGCTTCAACCAGAAGCCAGTGCCAGGAGTCTGGCTCCTCTGAGCATTGGAGCAGAATTTCAAATAAATCGGTCATCTCTTGTTTGCTTCCTTGAAGTTCCTGGGGGCACTTATTGCAGACTTGATCGCTGTCCATTTTGGAGGTGGGCACTGAGGGCAAGTTCTCAAAAGCCAGCCTTAAGTGGTCTTGAATGACTGGGCTGAAGTACTGGATAAGGGATTTCACCTAGAAGGCATATCAGATGATTAAACAGAAACCCAACTTTCAGTTTCAGCTGGAGCTGAAAATGTTAGAGAAAAGCATAGACAAAATTATGCTTTCTCACCCTGAACTAAGTCAGAGTGACTATTATGTAATTTTACAAAGCTGTA (p.Cys1485_Leu1486delinsGluAlaArgThrLeuArgIleGlyAlaCysCysPheThrAlaSerThrArgSerGlnCysGlnGluSerGlySerSerGluHisTrpSerArgIleSerAsnLysSerValIleSerCysLeuLeuProTer)
NM_025137.4(SPG11):c.4455T>G (p.Cys1485Trp) rs2083010716
NM_025137.4(SPG11):c.4456C>A (p.Leu1486Ile) rs2083010648
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs) rs587777921
NM_025137.4(SPG11):c.446T>A (p.Ile149Asn) rs1595938156
NM_025137.4(SPG11):c.4476T>C (p.Thr1492=)
NM_025137.4(SPG11):c.4487A>T (p.Asp1496Val) rs2140970008
NM_025137.4(SPG11):c.4494T>C (p.Val1498=)
NM_025137.4(SPG11):c.4498A>T (p.Thr1500Ser) rs758867131
NM_025137.4(SPG11):c.449C>T (p.Ser150Phe) rs2085034168
NM_025137.4(SPG11):c.4500T>C (p.Thr1500=)
NM_025137.4(SPG11):c.4507A>G (p.Met1503Val)
NM_025137.4(SPG11):c.4520A>G (p.Gln1507Arg) rs1267260382
NM_025137.4(SPG11):c.4534dup (p.Asp1512fs)
NM_025137.4(SPG11):c.4548C>T (p.Asn1516=)
NM_025137.4(SPG11):c.4549C>G (p.Leu1517Val) rs942704467
NM_025137.4(SPG11):c.454T>A (p.Leu152Met)
NM_025137.4(SPG11):c.4562C>G (p.Ser1521Ter) rs1337761270
NM_025137.4(SPG11):c.4566C>T (p.Val1522=)
NM_025137.4(SPG11):c.458C>T (p.Ser153Phe)
NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter) rs1362530862
NM_025137.4(SPG11):c.4592A>C (p.Gln1531Pro) rs2140969699
NM_025137.4(SPG11):c.4593A>G (p.Gln1531=)
NM_025137.4(SPG11):c.4599C>G (p.Ser1533Arg) rs758762845
NM_025137.4(SPG11):c.4599C>T (p.Ser1533=) rs758762845
NM_025137.4(SPG11):c.459T>C (p.Ser153=) rs2141126737
NM_025137.4(SPG11):c.45T>A (p.Gly15=)
NM_025137.4(SPG11):c.4608C>A (p.Leu1536=)
NM_025137.4(SPG11):c.460_461del (p.Leu154fs) rs1595938132
NM_025137.4(SPG11):c.4621C>T (p.Gln1541Ter) rs2140969609
NM_025137.4(SPG11):c.4625T>G (p.Leu1542Arg) rs2083005246
NM_025137.4(SPG11):c.4632T>C (p.Phe1544=)
NM_025137.4(SPG11):c.4635+15T>C rs1372156068
NM_025137.4(SPG11):c.4635+19C>T
NM_025137.4(SPG11):c.4635+7A>G
NM_025137.4(SPG11):c.4636-11C>G
NM_025137.4(SPG11):c.4636-11_4636-10del rs765481566
NM_025137.4(SPG11):c.4636-18T>C
NM_025137.4(SPG11):c.4636-19T>C
NM_025137.4(SPG11):c.4636-20T>A
NM_025137.4(SPG11):c.4636-3A>G rs1433545924
NM_025137.4(SPG11):c.4637_4638insATC (p.Asp1546delinsGluSer) rs1595855150
NM_025137.4(SPG11):c.4644G>A (p.Pro1548=)
NM_025137.4(SPG11):c.4644G>T (p.Pro1548=) rs1021717728
NM_025137.4(SPG11):c.4647A>G (p.Leu1549=)
NM_025137.4(SPG11):c.4648C>T (p.Leu1550=)
NM_025137.4(SPG11):c.4650A>G (p.Leu1550=) rs2140963415
NM_025137.4(SPG11):c.4651C>A (p.Leu1551Met) rs1595855125
NM_025137.4(SPG11):c.4659G>A (p.Met1553Ile)
NM_025137.4(SPG11):c.4661A>C (p.Glu1554Ala) rs2082925039
NM_025137.4(SPG11):c.4664T>C (p.Met1555Thr) rs2140963348
NM_025137.4(SPG11):c.4672C>T (p.Leu1558=) rs2140963298
NM_025137.4(SPG11):c.4673del (p.Leu1558fs) rs2140963289
NM_025137.4(SPG11):c.4675T>C (p.Cys1559Arg)
NM_025137.4(SPG11):c.4675T>G (p.Cys1559Gly) rs757658545
NM_025137.4(SPG11):c.4680G>A (p.Met1560Ile) rs1281792255
NM_025137.4(SPG11):c.4699_4700del (p.Glu1567fs) rs2082923260
NM_025137.4(SPG11):c.4708G>C (p.Ala1570Pro) rs2082922918
NM_025137.4(SPG11):c.4717C>G (p.Leu1573Val) rs560868702
NM_025137.4(SPG11):c.4717C>T (p.Leu1573=) rs560868702
NM_025137.4(SPG11):c.4718T>C (p.Leu1573Pro)
NM_025137.4(SPG11):c.4725dup (p.Gln1576fs)
NM_025137.4(SPG11):c.4743+15T>C
NM_025137.4(SPG11):c.4743+17G>C
NM_025137.4(SPG11):c.4743+18T>C
NM_025137.4(SPG11):c.4743+19G>C
NM_025137.4(SPG11):c.4743+8G>A rs2140963061
NM_025137.4(SPG11):c.4743+9G>C
NM_025137.4(SPG11):c.4743+9del
NM_025137.4(SPG11):c.4744-11T>C
NM_025137.4(SPG11):c.4744-15C>G
NM_025137.4(SPG11):c.4744-20C>T
NM_025137.4(SPG11):c.4744-7T>G
NM_025137.4(SPG11):c.4746T>G (p.Leu1582=) rs1595851030
NM_025137.4(SPG11):c.4753_4761del (p.Ala1585_Thr1587del) rs2082846485
NM_025137.4(SPG11):c.4756G>A (p.Ala1586Thr)
NM_025137.4(SPG11):c.4758C>A (p.Ala1586=)
NM_025137.4(SPG11):c.4761A>G (p.Thr1587=)
NM_025137.4(SPG11):c.4768del (p.His1590fs)
NM_025137.4(SPG11):c.4773dup (p.Val1592fs) rs1064795062
NM_025137.4(SPG11):c.4777del (p.Ile1593fs) rs1064797055
NM_025137.4(SPG11):c.4780C>G (p.Pro1594Ala) rs771186100
NM_025137.4(SPG11):c.4798dup (p.Asp1600fs)
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met) rs754536969
NM_025137.4(SPG11):c.4804G>T (p.Val1602Leu) rs754536969
NM_025137.4(SPG11):c.4805T>A (p.Val1602Glu) rs1452836790
NM_025137.4(SPG11):c.4811dup (p.Leu1605fs) rs760618394
NM_025137.4(SPG11):c.4813del (p.Leu1605fs) rs2082844329
NM_025137.4(SPG11):c.4814T>G (p.Leu1605Arg) rs1260241430
NM_025137.4(SPG11):c.4817del (p.Leu1605_Leu1606insTer)
NM_025137.4(SPG11):c.4820A>G (p.Lys1607Arg) rs2082844140
NM_025137.4(SPG11):c.4824T>C (p.Leu1608=)
NM_025137.4(SPG11):c.4826T>C (p.Met1609Thr) rs2140956945
NM_025137.4(SPG11):c.4830dup (p.Gln1611fs)
NM_025137.4(SPG11):c.4834C>T (p.Gln1612Ter)
NM_025137.4(SPG11):c.4836G>A (p.Gln1612=)
NM_025137.4(SPG11):c.4837T>G (p.Cys1613Gly)
NM_025137.4(SPG11):c.4851T>C (p.Tyr1617=)
NM_025137.4(SPG11):c.4860dup (p.Lys1621fs) rs1418873962
NM_025137.4(SPG11):c.4870C>T (p.Gln1624Ter)
NM_025137.4(SPG11):c.4871del (p.Gln1624fs)
NM_025137.4(SPG11):c.4874dup (p.Phe1626fs)
NM_025137.4(SPG11):c.4875C>G (p.Leu1625=) rs751776468
NM_025137.4(SPG11):c.4888G>C (p.Glu1630Gln) rs368276916
NM_025137.4(SPG11):c.4896C>G (p.Leu1632=) rs938056721
NM_025137.4(SPG11):c.4904A>G (p.Asp1635Gly)
NM_025137.4(SPG11):c.4906+11C>G
NM_025137.4(SPG11):c.4906+17A>G
NM_025137.4(SPG11):c.4906+2T>C
NM_025137.4(SPG11):c.4906+4_4906+6dup
NM_025137.4(SPG11):c.4907-10_4911del rs2082751022
NM_025137.4(SPG11):c.4907-2A>C
NM_025137.4(SPG11):c.4907-5C>T rs531032784
NM_025137.4(SPG11):c.4911A>G (p.Pro1637=)
NM_025137.4(SPG11):c.4915G>A (p.Val1639Met)
NM_025137.4(SPG11):c.4920A>G (p.Lys1640=) rs2140950308
NM_025137.4(SPG11):c.4923G>A (p.Lys1641=) rs150218102
NM_025137.4(SPG11):c.4930A>G (p.Ile1644Val) rs1240092659
NM_025137.4(SPG11):c.4932C>T (p.Ile1644=)
NM_025137.4(SPG11):c.4941G>A (p.Gln1647=)
NM_025137.4(SPG11):c.4950G>A (p.Lys1650=)
NM_025137.4(SPG11):c.4955C>A (p.Thr1652Lys)
NM_025137.4(SPG11):c.4956A>T (p.Thr1652=)
NM_025137.4(SPG11):c.4959C>T (p.Ser1653=)
NM_025137.4(SPG11):c.496C>T (p.Leu166=) rs372037097
NM_025137.4(SPG11):c.4973A>G (p.His1658Arg)
NM_025137.4(SPG11):c.4982T>C (p.Ile1661Thr)
NM_025137.4(SPG11):c.4985C>A (p.Thr1662Asn)
NM_025137.4(SPG11):c.4G>A (p.Ala2Thr) rs1566838999
NM_025137.4(SPG11):c.5001G>T (p.Glu1667Asp) rs1595845664
NM_025137.4(SPG11):c.5014G>T (p.Glu1672Ter)
NM_025137.4(SPG11):c.5017T>C (p.Cys1673Arg)
NM_025137.4(SPG11):c.501C>G (p.Phe167Leu) rs771462279
NM_025137.4(SPG11):c.5031G>A (p.Leu1677=)
NM_025137.4(SPG11):c.5032G>A (p.Glu1678Lys)
NM_025137.4(SPG11):c.5052A>G (p.Gly1684=)
NM_025137.4(SPG11):c.5052A>T (p.Gly1684=)
NM_025137.4(SPG11):c.5055A>G (p.Gln1685=) rs758497624
NM_025137.4(SPG11):c.5055A>T (p.Gln1685His)
NM_025137.4(SPG11):c.5058_5061del (p.Ala1687fs)
NM_025137.4(SPG11):c.5073G>A (p.Arg1691=) rs2082747265
NM_025137.4(SPG11):c.5076A>T (p.Val1692=)
NM_025137.4(SPG11):c.5086G>A (p.Ala1696Thr) rs2140949961
NM_025137.4(SPG11):c.5087C>G (p.Ala1696Gly)
NM_025137.4(SPG11):c.5091G>A (p.Glu1697=)
NM_025137.4(SPG11):c.5093T>A (p.Leu1698Ter) rs1462607878
NM_025137.4(SPG11):c.50G>A (p.Trp17Ter) rs1339135039
NM_025137.4(SPG11):c.5106C>G (p.Asn1702Lys) rs762524521
NM_025137.4(SPG11):c.5109G>A (p.Leu1703=)
NM_025137.4(SPG11):c.5109_5115dup (p.Lys1706delinsGlyTyrTer)
NM_025137.4(SPG11):c.5110G>A (p.Val1704Ile) rs931856984
NM_025137.4(SPG11):c.5110G>T (p.Val1704Phe) rs931856984
NM_025137.4(SPG11):c.5115T>C (p.Ile1705=)
NM_025137.4(SPG11):c.5117_5118del (p.Lys1706fs)
NM_025137.4(SPG11):c.5121+10G>A
NM_025137.4(SPG11):c.5121+10G>T
NM_025137.4(SPG11):c.5121+11T>C
NM_025137.4(SPG11):c.5121+12C>A
NM_025137.4(SPG11):c.5121+12C>T rs199766848
NM_025137.4(SPG11):c.5121+12del
NM_025137.4(SPG11):c.5121+13T>C
NM_025137.4(SPG11):c.5121+15T>C rs1567139953
NM_025137.4(SPG11):c.5121+2T>G
NM_025137.4(SPG11):c.5121+8C>A rs779071284
NM_025137.4(SPG11):c.5121+8C>T rs779071284
NM_025137.4(SPG11):c.5121+8_5121+9insTCT rs1555449193
NM_025137.4(SPG11):c.5121+9G>A
NM_025137.4(SPG11):c.5122-12T>G
NM_025137.4(SPG11):c.5122-18C>T
NM_025137.4(SPG11):c.5122-1G>A rs2140947703
NM_025137.4(SPG11):c.5122-5C>A rs749419579
NM_025137.4(SPG11):c.5122-5C>T rs749419579
NM_025137.4(SPG11):c.5122-6T>C rs2140947711
NM_025137.4(SPG11):c.5122-6del rs1379359957
NM_025137.4(SPG11):c.5135T>G (p.Met1712Arg) rs1555448989
NM_025137.4(SPG11):c.5136G>A (p.Met1712Ile)
NM_025137.4(SPG11):c.5148dup (p.His1717fs) rs1422477670
NM_025137.4(SPG11):c.5150A>G (p.His1717Arg)
NM_025137.4(SPG11):c.5161_5176del (p.Trp1721fs)
NM_025137.4(SPG11):c.5167C>T (p.Leu1723=)
NM_025137.4(SPG11):c.5172A>G (p.Lys1724=) rs748433681
NM_025137.4(SPG11):c.5175del (p.Ala1726fs) rs1060499768
NM_025137.4(SPG11):c.5175dup (p.Ala1726fs)
NM_025137.4(SPG11):c.5177C>G (p.Ala1726Gly) rs1252919994
NM_025137.4(SPG11):c.5199del (p.Lys1733fs) rs779268551
NM_025137.4(SPG11):c.5199dup (p.Cys1734fs)
NM_025137.4(SPG11):c.5208G>T (p.Glu1736Asp) rs2082717835
NM_025137.4(SPG11):c.5211T>A (p.Asn1737Lys) rs1024346199
NM_025137.4(SPG11):c.5211T>C (p.Asn1737=) rs1024346199
NM_025137.4(SPG11):c.5215A>C (p.Lys1739Gln)
NM_025137.4(SPG11):c.5220_5224del (p.Lys1740fs)
NM_025137.4(SPG11):c.5227A>G (p.Ile1743Val) rs1419267108
NM_025137.4(SPG11):c.5234G>A (p.Ser1745Asn)
NM_025137.4(SPG11):c.5243C>G (p.Ala1748Gly) rs2082716750
NM_025137.4(SPG11):c.5246C>T (p.Ser1749Phe) rs1555448970
NM_025137.4(SPG11):c.5248del (p.Ser1750fs) rs2140947448
NM_025137.4(SPG11):c.5249_5252del (p.Ser1750fs)
NM_025137.4(SPG11):c.524A>G (p.His175Arg) rs895170417
NM_025137.4(SPG11):c.5255del (p.Phe1752fs) rs312262763
NM_025137.4(SPG11):c.5256C>G (p.Phe1752Leu) rs2140947410
NM_025137.4(SPG11):c.5258C>A (p.Ser1753Ter)
NM_025137.4(SPG11):c.5262C>T (p.Thr1754=)
NM_025137.4(SPG11):c.5263C>T (p.Gln1755Ter)
NM_025137.4(SPG11):c.5266G>A (p.Ala1756Thr)
NM_025137.4(SPG11):c.5268C>T (p.Ala1756=) rs1488363389
NM_025137.4(SPG11):c.5271T>C (p.His1757=) rs2082715909
NM_025137.4(SPG11):c.5277A>G (p.Ala1759=)
NM_025137.4(SPG11):c.5277A>T (p.Ala1759=)
NM_025137.4(SPG11):c.527T>C (p.Ile176Thr) rs2085031500
NM_025137.4(SPG11):c.5280T>C (p.Cys1760=)
NM_025137.4(SPG11):c.5290dup (p.Thr1764fs)
NM_025137.4(SPG11):c.5294G>A (p.Gly1765Glu)
NM_025137.4(SPG11):c.529A>G (p.Ile177Val)
NM_025137.4(SPG11):c.529_533del (p.Ile177fs) rs312262716
NM_025137.4(SPG11):c.5301C>T (p.Ser1767=) rs2082715269
NM_025137.4(SPG11):c.5303G>A (p.Ser1768Asn)
NM_025137.4(SPG11):c.5305_5316del (p.Met1769_Arg1772del) rs2140947284
NM_025137.4(SPG11):c.530T>C (p.Ile177Thr)
NM_025137.4(SPG11):c.5314C>T (p.Arg1772Cys)
NM_025137.4(SPG11):c.5316C>T (p.Arg1772=)
NM_025137.4(SPG11):c.5322G>A (p.Leu1774=)
NM_025137.4(SPG11):c.5326C>T (p.Leu1776Phe)
NM_025137.4(SPG11):c.5328C>T (p.Leu1776=)
NM_025137.4(SPG11):c.5330C>G (p.Thr1777Ser)
NM_025137.4(SPG11):c.5334G>A (p.Leu1778=) rs369354037
NM_025137.4(SPG11):c.5335del (p.Ala1779fs)
NM_025137.4(SPG11):c.5337A>G (p.Ala1779=)
NM_025137.4(SPG11):c.5340G>A (p.Gly1780=)
NM_025137.4(SPG11):c.5354A>C (p.Gln1785Pro) rs1050403502
NM_025137.4(SPG11):c.5367G>A (p.Val1789=)
NM_025137.4(SPG11):c.5370C>T (p.Pro1790=)
NM_025137.4(SPG11):c.5371T>C (p.Leu1791=) rs2140947185
NM_025137.4(SPG11):c.5386_5394del (p.Glu1796_Glu1798del) rs765129142
NM_025137.4(SPG11):c.5386_5394dup (p.Glu1798_Lys1799insGluLeuGlu)
NM_025137.4(SPG11):c.5391G>A (p.Leu1797=)
NM_025137.4(SPG11):c.5397G>T (p.Lys1799Asn)
NM_025137.4(SPG11):c.5398C>T (p.Gln1800Ter) rs1287370710
NM_025137.4(SPG11):c.53dup (p.Thr19fs)
NM_025137.4(SPG11):c.5403C>A (p.Ile1801=)
NM_025137.4(SPG11):c.5409G>A (p.Leu1803=)
NM_025137.4(SPG11):c.5413C>T (p.Arg1805Cys)
NM_025137.4(SPG11):c.5414G>C (p.Arg1805Pro)
NM_025137.4(SPG11):c.541A>C (p.Arg181=)
NM_025137.4(SPG11):c.5422C>T (p.Gln1808Ter)
NM_025137.4(SPG11):c.5426A>G (p.His1809Arg) rs1555448900
NM_025137.4(SPG11):c.5428A>T (p.Thr1810Ser) rs1404988525
NM_025137.4(SPG11):c.5432T>C (p.Leu1811Pro)
NM_025137.4(SPG11):c.5433T>C (p.Leu1811=)
NM_025137.4(SPG11):c.5437A>G (p.Arg1813Gly) rs1595843157
NM_025137.4(SPG11):c.5443C>T (p.Gln1815Ter)
NM_025137.4(SPG11):c.5450A>G (p.Glu1817Gly) rs2082711302
NM_025137.4(SPG11):c.5454A>G (p.Thr1818=) rs2140946988
NM_025137.4(SPG11):c.545A>C (p.Asp182Ala) rs143636318
NM_025137.4(SPG11):c.545A>T (p.Asp182Val)
NM_025137.4(SPG11):c.5462G>A (p.Arg1821Lys) rs777449266
NM_025137.4(SPG11):c.5465_5477del (p.Phe1822fs) rs1567138536
NM_025137.4(SPG11):c.5476A>G (p.Ile1826Val) rs1251056690
NM_025137.4(SPG11):c.5482A>G (p.Thr1828Ala) rs2082710576
NM_025137.4(SPG11):c.5489G>C (p.Gly1830Ala) rs529748787
NM_025137.4(SPG11):c.5492A>G (p.Glu1831Gly) rs2140946907
NM_025137.4(SPG11):c.5497T>C (p.Ser1833Pro) rs766375553
NM_025137.4(SPG11):c.5497T>G (p.Ser1833Ala) rs766375553
NM_025137.4(SPG11):c.5499C>G (p.Ser1833=) rs2140946879
NM_025137.4(SPG11):c.54C>A (p.Gly18=)
NM_025137.4(SPG11):c.54C>T (p.Gly18=)
NM_025137.4(SPG11):c.5512G>C (p.Ala1838Pro) rs761774708
NM_025137.4(SPG11):c.5529C>T (p.Phe1843=)
NM_025137.4(SPG11):c.5536T>C (p.Leu1846=)
NM_025137.4(SPG11):c.5537T>C (p.Leu1846Ser) rs760831525
NM_025137.4(SPG11):c.5551A>C (p.Thr1851Pro)
NM_025137.4(SPG11):c.5553A>G (p.Thr1851=)
NM_025137.4(SPG11):c.5553A>T (p.Thr1851=)
NM_025137.4(SPG11):c.5557A>G (p.Lys1853Glu)
NM_025137.4(SPG11):c.5565A>G (p.Leu1855=)
NM_025137.4(SPG11):c.5566G>C (p.Glu1856Gln)
NM_025137.4(SPG11):c.5570T>G (p.Leu1857Arg) rs1425480106
NM_025137.4(SPG11):c.5571_5572insTCT (p.Leu1857_Asn1858insSer) rs1185237931
NM_025137.4(SPG11):c.5583A>C (p.Pro1861=)
NM_025137.4(SPG11):c.5592_5593del (p.Glu1864fs)
NM_025137.4(SPG11):c.5595A>C (p.Thr1865=)
NM_025137.4(SPG11):c.5596T>C (p.Cys1866Arg)
NM_025137.4(SPG11):c.5598C>A (p.Cys1866Ter)
NM_025137.4(SPG11):c.5604T>C (p.Asn1868=)
NM_025137.4(SPG11):c.5607del (p.Arg1869fs)
NM_025137.4(SPG11):c.560T>C (p.Val187Ala) rs2085030329
NM_025137.4(SPG11):c.5615G>C (p.Trp1872Ser) rs1567138385
NM_025137.4(SPG11):c.5618A>G (p.Lys1873Arg)
NM_025137.4(SPG11):c.5628G>A (p.Glu1876=) rs758313148
NM_025137.4(SPG11):c.5630C>T (p.Ser1877Leu)
NM_025137.4(SPG11):c.5634A>C (p.Leu1878=)
NM_025137.4(SPG11):c.5634A>G (p.Leu1878=)
NM_025137.4(SPG11):c.5641T>C (p.Leu1881=)
NM_025137.4(SPG11):c.5644A>T (p.Ile1882Phe) rs200645188
NM_025137.4(SPG11):c.5645T>G (p.Ile1882Ser)
NM_025137.4(SPG11):c.5651G>A (p.Arg1884His) rs767776590
NM_025137.4(SPG11):c.5652C>T (p.Arg1884=)
NM_025137.4(SPG11):c.5655A>G (p.Leu1885=)
NM_025137.4(SPG11):c.5689G>A (p.Val1897Ile)
NM_025137.4(SPG11):c.5694C>T (p.Cys1898=) rs1217386610
NM_025137.4(SPG11):c.5703del (p.His1902fs) rs312262769
NM_025137.4(SPG11):c.5719G>A (p.Asp1907Asn)
NM_025137.4(SPG11):c.5727C>T (p.Ala1909=)
NM_025137.4(SPG11):c.5735T>G (p.Leu1912Trp)
NM_025137.4(SPG11):c.5738A>G (p.His1913Arg) rs2082704823
NM_025137.4(SPG11):c.5743A>C (p.Arg1915=)
NM_025137.4(SPG11):c.5747C>T (p.Ala1916Val) rs2140946431
NM_025137.4(SPG11):c.5749C>T (p.Leu1917=)
NM_025137.4(SPG11):c.5755T>A (p.Ser1919Thr)
NM_025137.4(SPG11):c.5756C>T (p.Ser1919Leu) rs1555448839
NM_025137.4(SPG11):c.5759G>A (p.Gly1920Glu) rs1445593607
NM_025137.4(SPG11):c.5760G>A (p.Gly1920=)
NM_025137.4(SPG11):c.5769T>C (p.Ser1923=) rs1313485862
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770
NM_025137.4(SPG11):c.5769dup (p.Met1924fs) rs1595842556
NM_025137.4(SPG11):c.576A>C (p.Thr192=) rs2141126286
NM_025137.4(SPG11):c.5775G>C (p.Glu1925Asp) rs1567138139
NM_025137.4(SPG11):c.577del (p.Leu193fs)
NM_025137.4(SPG11):c.5784C>T (p.His1928=)
NM_025137.4(SPG11):c.5794del (p.His1932fs)
NM_025137.4(SPG11):c.57C>G (p.Thr19=) rs1380799323
NM_025137.4(SPG11):c.5803C>G (p.Leu1935Val) rs746663514
NM_025137.4(SPG11):c.5805A>G (p.Leu1935=)
NM_025137.4(SPG11):c.5806C>T (p.Gln1936Ter)
NM_025137.4(SPG11):c.5815G>T (p.Glu1939Ter) rs2082702986
NM_025137.4(SPG11):c.5820G>A (p.Leu1940=)
NM_025137.4(SPG11):c.5826G>A (p.Glu1942=) rs2140946251
NM_025137.4(SPG11):c.5827G>A (p.Glu1943Lys)
NM_025137.4(SPG11):c.5829A>G (p.Glu1943=)
NM_025137.4(SPG11):c.582C>T (p.Pro194=)
NM_025137.4(SPG11):c.5838C>G (p.Pro1946=)
NM_025137.4(SPG11):c.5839G>T (p.Asp1947Tyr) rs751801619
NM_025137.4(SPG11):c.5842dup (p.Ile1948fs) rs1555448810
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer) rs1323156960
NM_025137.4(SPG11):c.5854dup (p.Arg1952fs)
NM_025137.4(SPG11):c.5861A>C (p.His1954Pro) rs954248015
NM_025137.4(SPG11):c.5861A>G (p.His1954Arg) rs954248015
NM_025137.4(SPG11):c.5862C>T (p.His1954=) rs2140946181
NM_025137.4(SPG11):c.5864G>A (p.Ser1955Asn)
NM_025137.4(SPG11):c.5864del (p.Ser1955fs)
NM_025137.4(SPG11):c.5866+11G>A
NM_025137.4(SPG11):c.5866+16C>A rs530748278
NM_025137.4(SPG11):c.5866+16C>G
NM_025137.4(SPG11):c.5866+5G>A rs1256036525
NM_025137.4(SPG11):c.5866+5G>C rs1256036525
NM_025137.4(SPG11):c.5866_5866+4del rs771346977
NM_025137.4(SPG11):c.5867-13T>C
NM_025137.4(SPG11):c.5867-13T>G
NM_025137.4(SPG11):c.5867-1G>A rs1060501168
NM_025137.4(SPG11):c.5867-1G>T rs1060501168
NM_025137.4(SPG11):c.5867-6T>G
NM_025137.4(SPG11):c.5867-8G>C
NM_025137.4(SPG11):c.5876dup (p.Asp1960fs)
NM_025137.4(SPG11):c.5878G>A (p.Asp1960Asn) rs761271386
NM_025137.4(SPG11):c.5880_5881dup (p.Ser1961fs)
NM_025137.4(SPG11):c.5881A>G (p.Ser1961Gly)
NM_025137.4(SPG11):c.5895G>A (p.Val1965=)
NM_025137.4(SPG11):c.5898A>C (p.Thr1966=)
NM_025137.4(SPG11):c.5898A>G (p.Thr1966=) rs1464906163
NM_025137.4(SPG11):c.5900_5901dup (p.Pro1968fs) rs2140931516
NM_025137.4(SPG11):c.5901G>T (p.Val1967=)
NM_025137.4(SPG11):c.5911A>G (p.Asn1971Asp)
NM_025137.4(SPG11):c.5913T>C (p.Asn1971=)
NM_025137.4(SPG11):c.5918T>C (p.Val1973Ala) rs2082504085
NM_025137.4(SPG11):c.591A>G (p.Ala197=)
NM_025137.4(SPG11):c.5946C>G (p.Ser1982Arg) rs1567132752
NM_025137.4(SPG11):c.5948A>G (p.Lys1983Arg)
NM_025137.4(SPG11):c.5948A>T (p.Lys1983Ile)
NM_025137.4(SPG11):c.5949A>G (p.Lys1983=)
NM_025137.4(SPG11):c.5955C>A (p.Leu1985=)
NM_025137.4(SPG11):c.5959G>C (p.Gly1987Arg) rs2140931439
NM_025137.4(SPG11):c.5966ACT[1] (p.Tyr1990del) rs2140931403
NM_025137.4(SPG11):c.5972del (p.Cys1991fs) rs2082503070
NM_025137.4(SPG11):c.597A>G (p.Ala199=)
NM_025137.4(SPG11):c.5980G>T (p.Val1994Phe)
NM_025137.4(SPG11):c.5982C>T (p.Val1994=)
NM_025137.4(SPG11):c.5985_5986del (p.Cys1996fs) rs1555447724
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln) rs879367729
NM_025137.4(SPG11):c.5992_5995del (p.Tyr1998fs)
NM_025137.4(SPG11):c.59C>A (p.Ala20Glu)
NM_025137.4(SPG11):c.59C>T (p.Ala20Val) rs1453437368
NM_025137.4(SPG11):c.6003C>G (p.Ala2001=)
NM_025137.4(SPG11):c.6006+10A>C rs2140931300
NM_025137.4(SPG11):c.6006+12G>C
NM_025137.4(SPG11):c.6006+15dup rs758198610
NM_025137.4(SPG11):c.6006+17G>A
NM_025137.4(SPG11):c.6006+19G>A
NM_025137.4(SPG11):c.6006+4T>C rs2140931302
NM_025137.4(SPG11):c.6006+8C>T
NM_025137.4(SPG11):c.6007-13G>A
NM_025137.4(SPG11):c.6007-18G>A
NM_025137.4(SPG11):c.6007-18G>C
NM_025137.4(SPG11):c.6007-3C>G rs1410926036
NM_025137.4(SPG11):c.6007-6T>C rs886051180
NM_025137.4(SPG11):c.6007-8C>T
NM_025137.4(SPG11):c.6010T>C (p.Leu2004=) rs200220848
NM_025137.4(SPG11):c.6012G>A (p.Leu2004=) rs2140929232
NM_025137.4(SPG11):c.6014G>C (p.Gly2005Ala) rs2140929215
NM_025137.4(SPG11):c.6016T>G (p.Cys2006Gly) rs2082475892
NM_025137.4(SPG11):c.6018T>C (p.Cys2006=)
NM_025137.4(SPG11):c.6021del (p.Tyr2008fs) rs886051179
NM_025137.4(SPG11):c.6038C>T (p.Ala2013Val) rs745997529
NM_025137.4(SPG11):c.6045T>C (p.Asp2015=) rs749530648
NM_025137.4(SPG11):c.6048T>C (p.Gly2016=)
NM_025137.4(SPG11):c.6056T>C (p.Met2019Thr) rs1268897921
NM_025137.4(SPG11):c.6067dup (p.Ile2023fs)
NM_025137.4(SPG11):c.6069C>T (p.Ile2023=) rs753141662
NM_025137.4(SPG11):c.606G>C (p.Met202Ile) rs1555383185
NM_025137.4(SPG11):c.6070T>C (p.Leu2024=)
NM_025137.4(SPG11):c.6075C>A (p.Ala2025=)
NM_025137.4(SPG11):c.6075C>G (p.Ala2025=) rs1430809185
NM_025137.4(SPG11):c.6078T>G (p.Ser2026=)
NM_025137.4(SPG11):c.6090C>T (p.Asp2030=)
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) rs147713329
NM_025137.4(SPG11):c.6092G>C (p.Arg2031Pro) rs1365555358
NM_025137.4(SPG11):c.6098A>G (p.Lys2033Arg)
NM_025137.4(SPG11):c.609T>C (p.Ile203=)
NM_025137.4(SPG11):c.60G>A (p.Ala20=) rs544136842
NM_025137.4(SPG11):c.60G>C (p.Ala20=) rs544136842
NM_025137.4(SPG11):c.6100C>G (p.Arg2034Gly) rs118203963
NM_025137.4(SPG11):c.6105C>T (p.Ala2035=) rs1595828430
NM_025137.4(SPG11):c.6111C>G (p.Ala2037=)
NM_025137.4(SPG11):c.6114C>T (p.Phe2038=)
NM_025137.4(SPG11):c.6121A>G (p.Thr2041Ala)
NM_025137.4(SPG11):c.6122C>T (p.Thr2041Ile)
NM_025137.4(SPG11):c.6124_6125del (p.Gln2042fs)
NM_025137.4(SPG11):c.6134_6135dup (p.Pro2046fs) rs2140928925
NM_025137.4(SPG11):c.6142A>G (p.Thr2048Ala) rs2082471967
NM_025137.4(SPG11):c.6150T>C (p.Ala2050=) rs2140928897
NM_025137.4(SPG11):c.6157G>C (p.Val2053Leu)
NM_025137.4(SPG11):c.6158T>G (p.Val2053Gly) rs2140928866
NM_025137.4(SPG11):c.6158_6163del (p.Val2053_Ala2054del)
NM_025137.4(SPG11):c.6159G>A (p.Val2053=)
NM_025137.4(SPG11):c.6174A>G (p.Thr2058=)
NM_025137.4(SPG11):c.6175C>A (p.Arg2059=)
NM_025137.4(SPG11):c.6175C>G (p.Arg2059Gly) rs755438310
NM_025137.4(SPG11):c.6176G>T (p.Arg2059Leu) rs757619567
NM_025137.4(SPG11):c.6187A>G (p.Thr2063Ala)
NM_025137.4(SPG11):c.618G>A (p.Thr206=)
NM_025137.4(SPG11):c.6198G>A (p.Gln2066=)
NM_025137.4(SPG11):c.6200G>A (p.Gly2067Glu) rs1339436003
NM_025137.4(SPG11):c.6200del (p.Gly2067fs)
NM_025137.4(SPG11):c.6201A>T (p.Gly2067=) rs764991726
NM_025137.4(SPG11):c.6203dup (p.Gly2069fs)
NM_025137.4(SPG11):c.6205+10C>A rs548551204
NM_025137.4(SPG11):c.6205+10C>G rs548551204
NM_025137.4(SPG11):c.6205+13C>T
NM_025137.4(SPG11):c.6205+14C>G
NM_025137.4(SPG11):c.6205+14del
NM_025137.4(SPG11):c.6205+15G>A
NM_025137.4(SPG11):c.6205+15G>C
NM_025137.4(SPG11):c.6205+18G>A rs770008849
NM_025137.4(SPG11):c.6205+18G>C
NM_025137.4(SPG11):c.6205+6C>T rs1595828225
NM_025137.4(SPG11):c.6205+7T>C rs1555447556
NM_025137.4(SPG11):c.6205+8A>C rs763990388
NM_025137.4(SPG11):c.6205+9C>A
NM_025137.4(SPG11):c.6205+9C>T
NM_025137.4(SPG11):c.6205+9dup rs775165218
NM_025137.4(SPG11):c.6206-12C>G
NM_025137.4(SPG11):c.6206-15C>T
NM_025137.4(SPG11):c.6206-4A>T rs1444531163
NM_025137.4(SPG11):c.6206-6G>C
NM_025137.4(SPG11):c.6206-6G>T rs1298829081
NM_025137.4(SPG11):c.6219G>A (p.Met2073Ile) rs778428857
NM_025137.4(SPG11):c.6223_6224insGAA (p.Phe2074_Asn2075insArg) rs773225085
NM_025137.4(SPG11):c.6224A>C (p.Asn2075Thr) rs140824939
NM_025137.4(SPG11):c.6225C>T (p.Asn2075=)
NM_025137.4(SPG11):c.622C>T (p.Leu208Phe)
NM_025137.4(SPG11):c.6230_6231del (p.Thr2077fs) rs1555447459
NM_025137.4(SPG11):c.6231A>C (p.Thr2077=) rs2082450015
NM_025137.4(SPG11):c.6233A>C (p.Glu2078Ala) rs1302238562
NM_025137.4(SPG11):c.6246A>G (p.Thr2082=)
NM_025137.4(SPG11):c.6261del (p.Thr2088fs) rs2140927039
NM_025137.4(SPG11):c.6263C>T (p.Thr2088Ile) rs1283621415
NM_025137.4(SPG11):c.6264T>G (p.Thr2088=)
NM_025137.4(SPG11):c.6266dup (p.Cys2090fs)
NM_025137.4(SPG11):c.6269_6270del (p.Cys2090fs) rs749705821
NM_025137.4(SPG11):c.6279C>G (p.Arg2093=)
NM_025137.4(SPG11):c.6281C>G (p.Thr2094Arg)
NM_025137.4(SPG11):c.6283T>C (p.Leu2095=) rs2082448894
NM_025137.4(SPG11):c.6284T>A (p.Leu2095Ter)
NM_025137.4(SPG11):c.6289G>A (p.Gly2097Ser)
NM_025137.4(SPG11):c.6291C>T (p.Gly2097=)
NM_025137.4(SPG11):c.6293T>C (p.Met2098Thr) rs2082448645
NM_025137.4(SPG11):c.6299T>C (p.Leu2100Ser)
NM_025137.4(SPG11):c.62C>G (p.Ala21Gly) rs1178130732
NM_025137.4(SPG11):c.6301T>G (p.Leu2101Val)
NM_025137.4(SPG11):c.6305A>T (p.Asp2102Val) rs531345715
NM_025137.4(SPG11):c.6306T>C (p.Asp2102=)
NM_025137.4(SPG11):c.6306_6307insC (p.Lys2103fs)
NM_025137.4(SPG11):c.6308A>G (p.Lys2103Arg) rs1555447440
NM_025137.4(SPG11):c.6317_6335del (p.Ser2106fs) rs1439018038
NM_025137.4(SPG11):c.6318C>T (p.Ser2106=)
NM_025137.4(SPG11):c.6326_6327insCTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTTCCTCCGTTCCCCA (p.His2109_Gly2110insPheTyrThrValGlyGlyThrValAsnTer)
NM_025137.4(SPG11):c.6327T>A (p.His2109Gln) rs754787719
NM_025137.4(SPG11):c.6327T>C (p.His2109=) rs754787719
NM_025137.4(SPG11):c.6331del (p.Glu2111fs) rs2140926873
NM_025137.4(SPG11):c.6333A>G (p.Glu2111=)
NM_025137.4(SPG11):c.6334C>T (p.Leu2112=)
NM_025137.4(SPG11):c.6343+12A>T
NM_025137.4(SPG11):c.6343+14del
NM_025137.4(SPG11):c.6343+19T>G
NM_025137.4(SPG11):c.6343+1G>T rs1555447432
NM_025137.4(SPG11):c.6343+8A>T
NM_025137.4(SPG11):c.6343+9T>C
NM_025137.4(SPG11):c.6344-13C>A
NM_025137.4(SPG11):c.6344-16G>T
NM_025137.4(SPG11):c.6344-17A>G
NM_025137.4(SPG11):c.6344-18C>T
NM_025137.4(SPG11):c.6344-19C>T
NM_025137.4(SPG11):c.6344-24_6344-20del
NM_025137.4(SPG11):c.6344-9C>T
NM_025137.4(SPG11):c.6345C>A (p.Thr2115=)
NM_025137.4(SPG11):c.6345C>T (p.Thr2115=)
NM_025137.4(SPG11):c.6347C>G (p.Thr2116Arg) rs751929116
NM_025137.4(SPG11):c.6347_6348del (p.Thr2116fs)
NM_025137.4(SPG11):c.6354C>A (p.Leu2118=)
NM_025137.4(SPG11):c.6354C>T (p.Leu2118=)
NM_025137.4(SPG11):c.6359T>C (p.Ile2120Thr) rs1236437265
NM_025137.4(SPG11):c.6365_6387del (p.Ala2122fs) rs2140923165
NM_025137.4(SPG11):c.6366C>G (p.Ala2122=)
NM_025137.4(SPG11):c.6367C>T (p.His2123Tyr) rs1567129561
NM_025137.4(SPG11):c.6372T>C (p.His2124=) rs1595824110
NM_025137.4(SPG11):c.6375C>T (p.Cys2125=) rs1432114741
NM_025137.4(SPG11):c.637C>A (p.Leu213Ile)
NM_025137.4(SPG11):c.6382C>G (p.Leu2128Val) rs1302560163
NM_025137.4(SPG11):c.6384G>C (p.Leu2128=)
NM_025137.4(SPG11):c.6387G>C (p.Thr2129=) rs150121550
NM_025137.4(SPG11):c.6391C>A (p.His2131Asn) rs775209503
NM_025137.4(SPG11):c.6391C>T (p.His2131Tyr)
NM_025137.4(SPG11):c.6401G>T (p.Gly2134Val)
NM_025137.4(SPG11):c.6406A>C (p.Ile2136Leu)
NM_025137.4(SPG11):c.6418C>T (p.Gln2140Ter) rs1567129475
NM_025137.4(SPG11):c.641T>G (p.Phe214Cys) rs2141126013
NM_025137.4(SPG11):c.6421G>A (p.Ala2141Thr)
NM_025137.4(SPG11):c.6424G>T (p.Ala2142Ser)
NM_025137.4(SPG11):c.6424dup (p.Ala2142fs)
NM_025137.4(SPG11):c.6437_6438del (p.Thr2146fs) rs2082401685
NM_025137.4(SPG11):c.6438A>G (p.Thr2146=)
NM_025137.4(SPG11):c.6443A>C (p.Asn2148Thr)
NM_025137.4(SPG11):c.6448C>G (p.Leu2150Val) rs1403957064
NM_025137.4(SPG11):c.6451del (p.Ala2151fs) rs312262779
NM_025137.4(SPG11):c.6460G>A (p.Glu2154Lys)
NM_025137.4(SPG11):c.6461A>G (p.Glu2154Gly) rs771827244
NM_025137.4(SPG11):c.6462G>A (p.Glu2154=)
NM_025137.4(SPG11):c.6467A>G (p.Tyr2156Cys)
NM_025137.4(SPG11):c.6477+12C>A
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025137.4(SPG11):c.6477+19C>T
NM_025137.4(SPG11):c.6477+4A>G rs312262780
NM_025137.4(SPG11):c.6477+5G>A
NM_025137.4(SPG11):c.6477+5G>C
NM_025137.4(SPG11):c.6477+6_6477+8del rs748324376
NM_025137.4(SPG11):c.6477G>A (p.Val2159=)
NM_025137.4(SPG11):c.6478-10C>A
NM_025137.4(SPG11):c.6478-16T>A rs2140921097
NM_025137.4(SPG11):c.6478-17G>A
NM_025137.4(SPG11):c.6478-2A>C rs2082374687
NM_025137.4(SPG11):c.6478-2A>G
NM_025137.4(SPG11):c.6478-7T>G
NM_025137.4(SPG11):c.6478-9A>G
NM_025137.4(SPG11):c.6480A>T (p.Val2160=)
NM_025137.4(SPG11):c.6482G>A (p.Arg2161Gln)
NM_025137.4(SPG11):c.6483G>A (p.Arg2161=)
NM_025137.4(SPG11):c.6483G>C (p.Arg2161=)
NM_025137.4(SPG11):c.6484C>A (p.Leu2162Ile) rs770769595
NM_025137.4(SPG11):c.6491C>T (p.Thr2164Ile) rs1362623682
NM_025137.4(SPG11):c.6498T>C (p.Ile2166=)
NM_025137.4(SPG11):c.6507C>A (p.Tyr2169Ter)
NM_025137.4(SPG11):c.6507C>T (p.Tyr2169=) rs1476614745
NM_025137.4(SPG11):c.6508_6510del (p.Asn2170del) rs757237014
NM_025137.4(SPG11):c.6510C>G (p.Asn2170Lys)
NM_025137.4(SPG11):c.6510C>T (p.Asn2170=)
NM_025137.4(SPG11):c.6523A>C (p.Ile2175Leu) rs1567128530
NM_025137.4(SPG11):c.6523del (p.Ile2175fs)
NM_025137.4(SPG11):c.6540del (p.His2180fs) rs2140920898
NM_025137.4(SPG11):c.6548ACT[1] (p.Tyr2184del)
NM_025137.4(SPG11):c.6549C>T (p.His2183=)
NM_025137.4(SPG11):c.6552C>T (p.Tyr2184=)
NM_025137.4(SPG11):c.6554T>C (p.Phe2185Ser) rs2140920863
NM_025137.4(SPG11):c.6558A>G (p.Glu2186=)
NM_025137.4(SPG11):c.6585+15A>G
NM_025137.4(SPG11):c.6585+15dup
NM_025137.4(SPG11):c.6585+2T>G rs2140920796
NM_025137.4(SPG11):c.6585+9A>C
NM_025137.4(SPG11):c.6586-16C>T
NM_025137.4(SPG11):c.6586-16del
NM_025137.4(SPG11):c.6586-19del
NM_025137.4(SPG11):c.6586-1G>A rs1060501174
NM_025137.4(SPG11):c.6586-1G>T rs1060501174
NM_025137.4(SPG11):c.6586-20T>C
NM_025137.4(SPG11):c.6586-7T>C rs1057524222
NM_025137.4(SPG11):c.6590G>C (p.Gly2197Ala)
NM_025137.4(SPG11):c.6594C>G (p.Thr2198=)
NM_025137.4(SPG11):c.6596T>C (p.Leu2199Pro)
NM_025137.4(SPG11):c.65T>C (p.Met22Thr) rs779434840
NM_025137.4(SPG11):c.6602C>T (p.Thr2201Ile) rs2140917223
NM_025137.4(SPG11):c.6607C>G (p.Leu2203Val)
NM_025137.4(SPG11):c.6607C>T (p.Leu2203=)
NM_025137.4(SPG11):c.6610C>A (p.Leu2204Met)
NM_025137.4(SPG11):c.6615C>T (p.Asp2205=)
NM_025137.4(SPG11):c.6621C>A (p.Ile2207=)
NM_025137.4(SPG11):c.6631C>A (p.Arg2211Ser) rs148260507
NM_025137.4(SPG11):c.6639A>G (p.Gly2213=)
NM_025137.4(SPG11):c.6656A>G (p.Asn2219Ser)
NM_025137.4(SPG11):c.6656A>T (p.Asn2219Ile)
NM_025137.4(SPG11):c.6657T>C (p.Asn2219=) rs2140917127
NM_025137.4(SPG11):c.6658_6659del (p.Met2220fs)
NM_025137.4(SPG11):c.6667C>A (p.Leu2223Met) rs2140917102
NM_025137.4(SPG11):c.667+12G>A
NM_025137.4(SPG11):c.667+12_667+14del
NM_025137.4(SPG11):c.667+13G>T
NM_025137.4(SPG11):c.667+18A>G
NM_025137.4(SPG11):c.667+18A>T
NM_025137.4(SPG11):c.667+19G>A
NM_025137.4(SPG11):c.667+1G>A
NM_025137.4(SPG11):c.6677G>T (p.Ser2226Ile) rs2082334964
NM_025137.4(SPG11):c.668-10T>C
NM_025137.4(SPG11):c.668-10_668-9insTTA rs1595935403
NM_025137.4(SPG11):c.668-11C>T
NM_025137.4(SPG11):c.668-13C>T
NM_025137.4(SPG11):c.668-14del
NM_025137.4(SPG11):c.668-1G>T rs2141121333
NM_025137.4(SPG11):c.668-6T>G
NM_025137.4(SPG11):c.668-7_668-4del rs1272830874
NM_025137.4(SPG11):c.6681G>A (p.Met2227Ile)
NM_025137.4(SPG11):c.6684C>T (p.Cys2228=)
NM_025137.4(SPG11):c.6685C>A (p.Arg2229=) rs751245734
NM_025137.4(SPG11):c.6690G>A (p.Glu2230=) rs768025841
NM_025137.4(SPG11):c.6692T>C (p.Ile2231Thr) rs1363230897
NM_025137.4(SPG11):c.669C>T (p.Tyr223=)
NM_025137.4(SPG11):c.6705C>T (p.His2235=)
NM_025137.4(SPG11):c.6706G>C (p.Glu2236Gln)
NM_025137.4(SPG11):c.6709G>A (p.Ala2237Thr)
NM_025137.4(SPG11):c.670A>G (p.Ile224Val) rs2084969218
NM_025137.4(SPG11):c.6725A>C (p.Gln2242Pro) rs2140916949
NM_025137.4(SPG11):c.6735G>A (p.Leu2245=) rs1555446716
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6738del (p.Ile2246fs) rs1555446712
NM_025137.4(SPG11):c.6738dup (p.Glu2247Ter)
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.6743C>G (p.Ser2248Cys) rs1567127087
NM_025137.4(SPG11):c.6750C>G (p.Pro2250=)
NM_025137.4(SPG11):c.6751T>C (p.Trp2251Arg)
NM_025137.4(SPG11):c.6753G>A (p.Trp2251Ter) rs2082333064
NM_025137.4(SPG11):c.6754+2_6754+3dup rs759090170
NM_025137.4(SPG11):c.6754+3_6754+4delinsAG rs2140916862
NM_025137.4(SPG11):c.6755-13_6755-12del
NM_025137.4(SPG11):c.6755-16_6755-14del
NM_025137.4(SPG11):c.6755-17_6755-14del
NM_025137.4(SPG11):c.6755-17_6755-15del rs143026515
NM_025137.4(SPG11):c.6755-19T>A
NM_025137.4(SPG11):c.6755-3C>G rs1177654504
NM_025137.4(SPG11):c.6755-6C>G rs2140914474
NM_025137.4(SPG11):c.6755-7C>T rs1459468329
NM_025137.4(SPG11):c.6755-8C>T
NM_025137.4(SPG11):c.6758A>G (p.Asp2253Gly) rs761230564
NM_025137.4(SPG11):c.6768G>A (p.Lys2256=)
NM_025137.4(SPG11):c.676G>C (p.Asp226His) rs971078676
NM_025137.4(SPG11):c.676G>T (p.Asp226Tyr)
NM_025137.4(SPG11):c.6774G>A (p.Gly2258=)
NM_025137.4(SPG11):c.6774G>C (p.Gly2258=)
NM_025137.4(SPG11):c.6775C>G (p.His2259Asp) rs2082307117
NM_025137.4(SPG11):c.6780G>A (p.Gln2260=) rs770643416
NM_025137.4(SPG11):c.6780G>C (p.Gln2260His) rs770643416
NM_025137.4(SPG11):c.6783G>C (p.Leu2261=)
NM_025137.4(SPG11):c.6784A>G (p.Lys2262Glu) rs2140914382
NM_025137.4(SPG11):c.6787C>T (p.Gln2263Ter)
NM_025137.4(SPG11):c.6788_6789delinsTG (p.Gln2263Leu)
NM_025137.4(SPG11):c.6789A>G (p.Gln2263=)
NM_025137.4(SPG11):c.6790C>T (p.Leu2264=)
NM_025137.4(SPG11):c.6798G>A (p.Leu2266=) rs1414442001
NM_025137.4(SPG11):c.6803C>T (p.Ala2268Val) rs2082306504
NM_025137.4(SPG11):c.6807G>T (p.Leu2269=)
NM_025137.4(SPG11):c.6811_6812del (p.Leu2271fs) rs1268815918
NM_025137.4(SPG11):c.6813G>C (p.Leu2271=)
NM_025137.4(SPG11):c.6826_6843+8del rs1595817498
NM_025137.4(SPG11):c.6831del (p.Ser2278fs)
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_025137.4(SPG11):c.6837T>C (p.Tyr2279=)
NM_025137.4(SPG11):c.6840C>G (p.Ala2280=) rs760995829
NM_025137.4(SPG11):c.6843+18T>C
NM_025137.4(SPG11):c.6843+2_6843+7dup
NM_025137.4(SPG11):c.6844-10T>C
NM_025137.4(SPG11):c.6844-12C>G
NM_025137.4(SPG11):c.6844-13C>T
NM_025137.4(SPG11):c.6844-14C>T
NM_025137.4(SPG11):c.6844-15A>G
NM_025137.4(SPG11):c.6844-19C>A rs539232104
NM_025137.4(SPG11):c.6844-19del
NM_025137.4(SPG11):c.6844-2A>G rs2140913822
NM_025137.4(SPG11):c.6844-5del
NM_025137.4(SPG11):c.6844-9G>T
NM_025137.4(SPG11):c.6844G>A (p.Asp2282Asn)
NM_025137.4(SPG11):c.6849C>T (p.Ser2283=) rs566330854
NM_025137.4(SPG11):c.6857G>C (p.Arg2286Pro)
NM_025137.4(SPG11):c.6861G>A (p.Gln2287=)
NM_025137.4(SPG11):c.6867G>T (p.Gln2289His)
NM_025137.4(SPG11):c.6876G>A (p.Gln2292=)
NM_025137.4(SPG11):c.6879G>A (p.Arg2293=)
NM_025137.4(SPG11):c.6879G>C (p.Arg2293=)
NM_025137.4(SPG11):c.6882C>T (p.Leu2294=)
NM_025137.4(SPG11):c.6884_6886del (p.Thr2295del) rs1060501169
NM_025137.4(SPG11):c.6887A>C (p.Lys2296Thr) rs889145962
NM_025137.4(SPG11):c.6889T>C (p.Leu2297=)
NM_025137.4(SPG11):c.6891G>A (p.Leu2297=) rs2140913726
NM_025137.4(SPG11):c.6896C>A (p.Thr2299Asn) rs780006264
NM_025137.4(SPG11):c.6896C>T (p.Thr2299Ile)
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg) rs371334506
NM_025137.4(SPG11):c.6906T>A (p.Ile2302=)
NM_025137.4(SPG11):c.6907C>T (p.His2303Tyr) rs777915558
NM_025137.4(SPG11):c.6912T>C (p.Phe2304=) rs146914461
NM_025137.4(SPG11):c.6912T>G (p.Phe2304Leu) rs146914461
NM_025137.4(SPG11):c.6915G>C (p.Leu2305=)
NM_025137.4(SPG11):c.6918C>T (p.Asn2306=)
NM_025137.4(SPG11):c.6921T>G (p.Thr2307=)
NM_025137.4(SPG11):c.6927G>C (p.Gln2309His) rs1555446429
NM_025137.4(SPG11):c.6928A>C (p.Asn2310His) rs2140913625
NM_025137.4(SPG11):c.6930C>T (p.Asn2310=)
NM_025137.4(SPG11):c.6933A>C (p.Thr2311=)
NM_025137.4(SPG11):c.6934A>G (p.Met2312Val) rs892306308
NM_025137.4(SPG11):c.693A>G (p.Thr231=)
NM_025137.4(SPG11):c.6945C>G (p.Asn2315Lys) rs1322340631
NM_025137.4(SPG11):c.6946T>C (p.Leu2316=)
NM_025137.4(SPG11):c.6954C>T (p.Arg2318=)
NM_025137.4(SPG11):c.6961C>T (p.Leu2321=)
NM_025137.4(SPG11):c.6965T>C (p.Met2322Thr) rs2082297271
NM_025137.4(SPG11):c.6971_6972del (p.Cys2324fs) rs780301639
NM_025137.4(SPG11):c.6971_6972dup (p.Ile2325fs)
NM_025137.4(SPG11):c.6976C>T (p.Leu2326=) rs1437826237
NM_025137.4(SPG11):c.6977T>C (p.Leu2326Pro) rs2082296961
NM_025137.4(SPG11):c.6981C>T (p.Ala2327=)
NM_025137.4(SPG11):c.6984A>G (p.Leu2328=) rs1314352745
NM_025137.4(SPG11):c.6985C>T (p.Pro2329Ser) rs1399660300
NM_025137.4(SPG11):c.6987T>A (p.Pro2329=)
NM_025137.4(SPG11):c.6993C>T (p.Phe2331=)
NM_025137.4(SPG11):c.6999+13G>A rs948770162
NM_025137.4(SPG11):c.6999+19T>C
NM_025137.4(SPG11):c.6999+1G>A rs1191614292
NM_025137.4(SPG11):c.6999+1G>C rs1191614292
NM_025137.4(SPG11):c.6999+3G>A
NM_025137.4(SPG11):c.6999+8A>G rs2140913450
NM_025137.4(SPG11):c.69G>T (p.Gly23=) rs771750618
NM_025137.4(SPG11):c.69del (p.Arg24fs)
NM_025137.4(SPG11):c.7000-10T>G rs1419777882
NM_025137.4(SPG11):c.7000-13C>T
NM_025137.4(SPG11):c.7000-15A>G
NM_025137.4(SPG11):c.7000-16C>T
NM_025137.4(SPG11):c.7000-18_7000-16del rs777704346
NM_025137.4(SPG11):c.7000-20_7000-17dup
NM_025137.4(SPG11):c.7000-3_7000-2delinsGC rs2140911612
NM_025137.4(SPG11):c.7000-3_7000-2insAGG rs312262787
NM_025137.4(SPG11):c.7000-8C>G rs886051177
NM_025137.4(SPG11):c.7000-8C>T rs886051177
NM_025137.4(SPG11):c.7000-8_7000-4del
NM_025137.4(SPG11):c.7000-9C>T
NM_025137.4(SPG11):c.7000-9_7000-7del rs2140911633
NM_025137.4(SPG11):c.7000G>C (p.Ala2334Pro)
NM_025137.4(SPG11):c.7002T>C (p.Ala2334=) rs1555446158
NM_025137.4(SPG11):c.7006A>C (p.Ile2336Leu)
NM_025137.4(SPG11):c.7006A>G (p.Ile2336Val)
NM_025137.4(SPG11):c.7014T>C (p.Ala2338=) rs1366630590
NM_025137.4(SPG11):c.7017G>A (p.Glu2339=)
NM_025137.4(SPG11):c.7018G>A (p.Ala2340Thr)
NM_025137.4(SPG11):c.7018G>T (p.Ala2340Ser) rs1375685761
NM_025137.4(SPG11):c.7024G>A (p.Asp2342Asn) rs529842519
NM_025137.4(SPG11):c.7024G>T (p.Asp2342Tyr) rs529842519
NM_025137.4(SPG11):c.7038T>C (p.Asp2346=)
NM_025137.4(SPG11):c.7040G>C (p.Trp2347Ser)
NM_025137.4(SPG11):c.7043del (p.Ala2348fs)
NM_025137.4(SPG11):c.7048A>G (p.Ile2350Val) rs780550991
NM_025137.4(SPG11):c.704A>G (p.His235Arg)
NM_025137.4(SPG11):c.7051T>C (p.Leu2351=)
NM_025137.4(SPG11):c.7055_7058dup (p.Gln2354fs) rs2140911440
NM_025137.4(SPG11):c.7056C>A (p.Tyr2352Ter) rs746329317
NM_025137.4(SPG11):c.7063_7073dup (p.Lys2358_Gly2359insTer) rs2082272406
NM_025137.4(SPG11):c.7067_7071dup (p.Lys2358fs)
NM_025137.4(SPG11):c.7068T>C (p.Ile2356=)
NM_025137.4(SPG11):c.7071T>C (p.Leu2357=)
NM_025137.4(SPG11):c.7079A>C (p.Asp2360Ala) rs373463137
NM_025137.4(SPG11):c.7083dup (p.Asn2362Ter)
NM_025137.4(SPG11):c.7087_7115inv (p.Tyr2363_Leu2372delinsAsnLeuCysCysLeuAsnSerSerLysTer)
NM_025137.4(SPG11):c.7093_7094insCTT (p.Glu2365delinsAlaTer) rs2140911376
NM_025137.4(SPG11):c.7098A>G (p.Glu2366=)
NM_025137.4(SPG11):c.70C>A (p.Arg24=)
NM_025137.4(SPG11):c.70C>G (p.Arg24Gly)
NM_025137.4(SPG11):c.7105C>T (p.Gln2369Ter) rs1397432412
NM_025137.4(SPG11):c.7111A>C (p.Arg2371=)
NM_025137.4(SPG11):c.7112G>A (p.Arg2371Lys) rs1595815301
NM_025137.4(SPG11):c.7116A>G (p.Leu2372=) rs1595815286
NM_025137.4(SPG11):c.7119A>G (p.Leu2373=)
NM_025137.4(SPG11):c.7142T>C (p.Ile2381Thr) rs2082271089
NM_025137.4(SPG11):c.7145C>A (p.Ser2382Tyr) rs1595815245
NM_025137.4(SPG11):c.7146C>A (p.Ser2382=)
NM_025137.4(SPG11):c.7150A>T (p.Lys2384Ter) rs1555446078
NM_025137.4(SPG11):c.7151+11A>C rs779150349
NM_025137.4(SPG11):c.7151+11A>G
NM_025137.4(SPG11):c.7151+14G>A
NM_025137.4(SPG11):c.7151+14_7151+15insC
NM_025137.4(SPG11):c.7151+19C>G
NM_025137.4(SPG11):c.7151+6T>C
NM_025137.4(SPG11):c.7151+7A>T
NM_025137.4(SPG11):c.7151+8T>C rs772301782
NM_025137.4(SPG11):c.7152-10C>T
NM_025137.4(SPG11):c.7152-16_7152-14dup
NM_025137.4(SPG11):c.7152-16_7152-15del rs755786903
NM_025137.4(SPG11):c.7152-17T>G
NM_025137.4(SPG11):c.7152-19A>C
NM_025137.4(SPG11):c.7152-2A>G
NM_025137.4(SPG11):c.7152-6A>G rs2082233766
NM_025137.4(SPG11):c.7153T>C (p.Tyr2385His) rs1386550783
NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter) rs778305085
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter) rs778305085
NM_025137.4(SPG11):c.7158ACA[1] (p.Gln2387del) rs376599651
NM_025137.4(SPG11):c.7158_7161dup (p.His2388fs) rs1567123492
NM_025137.4(SPG11):c.7162C>A (p.His2388Asn) rs1567123486
NM_025137.4(SPG11):c.7168C>T (p.Pro2390Ser)
NM_025137.4(SPG11):c.7169dup (p.Thr2391fs) rs2140908233
NM_025137.4(SPG11):c.7187_7211dup (p.Tyr2404Ter) rs1595812586
NM_025137.4(SPG11):c.71G>A (p.Arg24Gln) rs1239788614
NM_025137.4(SPG11):c.7201_7218del (p.Leu2401_Glu2406del) rs1490325672
NM_025137.4(SPG11):c.7203dup (p.Leu2402fs)
NM_025137.4(SPG11):c.7221T>C (p.Asp2407=)
NM_025137.4(SPG11):c.7228C>T (p.Leu2410=)
NM_025137.4(SPG11):c.722A>T (p.His241Leu) rs993836774
NM_025137.4(SPG11):c.7231T>A (p.Tyr2411Asn)
NM_025137.4(SPG11):c.7237A>G (p.Lys2413Glu)
NM_025137.4(SPG11):c.7240T>C (p.Leu2414=)
NM_025137.4(SPG11):c.7244C>A (p.Ala2415Glu) rs1060501177
NM_025137.4(SPG11):c.7248C>T (p.Tyr2416=) rs763259072
NM_025137.4(SPG11):c.7249G>T (p.Glu2417Ter) rs371313584
NM_025137.4(SPG11):c.7249_7251delinsCTGTT (p.Glu2417fs) rs864622190
NM_025137.4(SPG11):c.7253A>G (p.His2418Arg) rs1555445707
NM_025137.4(SPG11):c.7254C>T (p.His2418=) rs2082229551
NM_025137.4(SPG11):c.7255_7258dup (p.Phe2420Ter)
NM_025137.4(SPG11):c.7258T>C (p.Phe2420Leu) rs779900397
NM_025137.4(SPG11):c.7266A>C (p.Glu2422Asp) rs1229173974
NM_025137.4(SPG11):c.7266A>G (p.Glu2422=) rs1229173974
NM_025137.4(SPG11):c.7268T>G (p.Ile2423Ser)
NM_025137.4(SPG11):c.726A>C (p.Lys242Asn) rs1369058889
NM_025137.4(SPG11):c.7276G>A (p.Val2426Met) rs1358019293
NM_025137.4(SPG11):c.727del (p.Glu243fs)
NM_025137.4(SPG11):c.7281T>G (p.Leu2427=)
NM_025137.4(SPG11):c.7292dup (p.Gln2432fs) rs2140907988
NM_025137.4(SPG11):c.72G>C (p.Arg24=)
NM_025137.4(SPG11):c.72G>T (p.Arg24=)
NM_025137.4(SPG11):c.7300G>A (p.Gly2434Ser) rs2082228032
NM_025137.4(SPG11):c.7301G>C (p.Gly2434Ala) rs755064786
NM_025137.4(SPG11):c.7302T>G (p.Gly2434=)
NM_025137.4(SPG11):c.7311A>G (p.Leu2437=)
NM_025137.4(SPG11):c.7313A>G (p.Lys2438Arg) rs766552088
NM_025137.4(SPG11):c.7318A>C (p.Met2440Leu) rs1595812352
NM_025137.4(SPG11):c.7324G>A (p.Ala2442Thr) rs765644977
NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro) rs765644977
NM_025137.4(SPG11):c.7325C>T (p.Ala2442Val) rs762374689
NM_025137.4(SPG11):c.733A>C (p.Met245Leu)
NM_025137.4(SPG11):c.734T>G (p.Met245Arg)
NM_025137.4(SPG11):c.739A>G (p.Asn247Asp) rs1483558811
NM_025137.4(SPG11):c.749_750insCTG (p.Gln250delinsHisTer)
NM_025137.4(SPG11):c.75T>C (p.Val25=) rs1566838661
NM_025137.4(SPG11):c.76C>G (p.Leu26Val)
NM_025137.4(SPG11):c.772T>C (p.Ser258Pro) rs1555382900
NM_025137.4(SPG11):c.773dup (p.Phe259fs) rs2141121011
NM_025137.4(SPG11):c.782C>A (p.Ser261Ter) rs765477482
NM_025137.4(SPG11):c.784C>T (p.Leu262=) rs2141120986
NM_025137.4(SPG11):c.786G>C (p.Leu262=) rs754239754
NM_025137.4(SPG11):c.792T>G (p.Val264=) rs1595935176
NM_025137.4(SPG11):c.798A>G (p.Gln266=) rs1451442272
NM_025137.4(SPG11):c.7G>A (p.Ala3Thr) rs1450340724
NM_025137.4(SPG11):c.801C>T (p.Asp267=) rs1555382889
NM_025137.4(SPG11):c.813A>G (p.Ala271=)
NM_025137.4(SPG11):c.817A>G (p.Ile273Val)
NM_025137.4(SPG11):c.819T>G (p.Ile273Met) rs1232225260
NM_025137.4(SPG11):c.819dup (p.Val274fs)
NM_025137.4(SPG11):c.81G>A (p.Pro27=)
NM_025137.4(SPG11):c.81G>T (p.Pro27=)
NM_025137.4(SPG11):c.821T>C (p.Val274Ala) rs1050146375
NM_025137.4(SPG11):c.824G>A (p.Ser275Asn) rs769608648
NM_025137.4(SPG11):c.827C>G (p.Ser276Cys) rs1595935078
NM_025137.4(SPG11):c.831C>T (p.Ser277=) rs1595935061
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile) rs75309308
NM_025137.4(SPG11):c.846T>A (p.Ala282=)
NM_025137.4(SPG11):c.852_856del (p.Asn284fs) rs1595935001
NM_025137.4(SPG11):c.857A>G (p.Asn286Ser) rs2084961885
NM_025137.4(SPG11):c.859T>C (p.Leu287=)
NM_025137.4(SPG11):c.85C>T (p.Leu29=)
NM_025137.4(SPG11):c.861G>T (p.Leu287Phe)
NM_025137.4(SPG11):c.869+10T>A
NM_025137.4(SPG11):c.869+11G>A
NM_025137.4(SPG11):c.869+12A>C
NM_025137.4(SPG11):c.869+13C>G
NM_025137.4(SPG11):c.869+1G>A rs312262721
NM_025137.4(SPG11):c.869+3A>G
NM_025137.4(SPG11):c.870-13T>C
NM_025137.4(SPG11):c.870-4dup
NM_025137.4(SPG11):c.870-5T>C
NM_025137.4(SPG11):c.870-9T>G
NM_025137.4(SPG11):c.877C>T (p.Pro293Ser) rs919363085
NM_025137.4(SPG11):c.87G>A (p.Leu29=)
NM_025137.4(SPG11):c.881G>T (p.Gly294Val)
NM_025137.4(SPG11):c.888A>G (p.Leu296=) rs2084804985
NM_025137.4(SPG11):c.889C>G (p.Leu297Val) rs751101312
NM_025137.4(SPG11):c.891G>T (p.Leu297=)
NM_025137.4(SPG11):c.894T>C (p.Cys298=)
NM_025137.4(SPG11):c.896A>G (p.Glu299Gly)
NM_025137.4(SPG11):c.898A>C (p.Arg300=)
NM_025137.4(SPG11):c.8C>T (p.Ala3Val)
NM_025137.4(SPG11):c.902T>A (p.Ile301Lys) rs1032246775
NM_025137.4(SPG11):c.902T>C (p.Ile301Thr) rs1032246775
NM_025137.4(SPG11):c.903A>C (p.Ile301=) rs2141108395
NM_025137.4(SPG11):c.90G>A (p.Leu30=)
NM_025137.4(SPG11):c.916C>T (p.Pro306Ser) rs776413713
NM_025137.4(SPG11):c.918T>A (p.Pro306=) rs147614121
NM_025137.4(SPG11):c.918T>C (p.Pro306=)
NM_025137.4(SPG11):c.925G>T (p.Gly309Ter) rs760659950
NM_025137.4(SPG11):c.929C>T (p.Pro310Leu)
NM_025137.4(SPG11):c.935G>T (p.Gly312Val)
NM_025137.4(SPG11):c.936C>G (p.Gly312=)
NM_025137.4(SPG11):c.939A>G (p.Val313=)
NM_025137.4(SPG11):c.939A>T (p.Val313=) rs2141108255
NM_025137.4(SPG11):c.949G>A (p.Asp317Asn) rs773433816
NM_025137.4(SPG11):c.953del (p.Pro318fs) rs2141108180
NM_025137.4(SPG11):c.959A>G (p.Asn320Ser) rs2084802198
NM_025137.4(SPG11):c.962C>G (p.Ser321Cys) rs2141108155
NM_025137.4(SPG11):c.965C>T (p.Ala322Val)
NM_025137.4(SPG11):c.96A>G (p.Pro32=)
NM_025137.4(SPG11):c.970A>C (p.Asn324His) rs997623054
NM_025137.4(SPG11):c.973A>G (p.Met325Val)
NM_025137.4(SPG11):c.979C>T (p.Leu327=)
NM_025137.4(SPG11):c.981G>C (p.Leu327=)
NM_025137.4(SPG11):c.986A>G (p.Lys329Arg) rs2084801193
NM_025137.4(SPG11):c.987G>A (p.Lys329=)
NM_025137.4(SPG11):c.98T>C (p.Val33Ala) rs1555384018
NM_025137.4(SPG11):c.992C>T (p.Ser331Phe)
NM_025137.4(SPG11):c.996C>T (p.Phe332=)
NM_025137.4(SPG11):c.999A>G (p.Gln333=) rs753613456
NM_025137.4(SPG11):c.99C>G (p.Val33=)
NM_025137.4(SPG11):c.99C>T (p.Val33=) rs1162532550
NM_031448.6(C19orf12):c.-11+197T>G
NM_031448.6(C19orf12):c.-11+199G>A
NM_031448.6(C19orf12):c.-11+204G>A rs2145662090
NM_031448.6(C19orf12):c.-11+214C>T
NM_031448.6(C19orf12):c.-11+237A>G
NM_031448.6(C19orf12):c.102C>T (p.Val34=)
NM_031448.6(C19orf12):c.10A>G (p.Met4Val)
NM_031448.6(C19orf12):c.120C>T (p.Phe40=)
NM_031448.6(C19orf12):c.128G>C (p.Gly43Ala)
NM_031448.6(C19orf12):c.138C>T (p.Gly46=) rs552916460
NM_031448.6(C19orf12):c.141C>A (p.Gly47=)
NM_031448.6(C19orf12):c.147G>A (p.Pro49=)
NM_031448.6(C19orf12):c.153C>T (p.Leu51=)
NM_031448.6(C19orf12):c.154G>A (p.Ala52Thr) rs376103979
NM_031448.6(C19orf12):c.157G>A (p.Val53Ile)
NM_031448.6(C19orf12):c.160+9A>G rs771382701
NM_031448.6(C19orf12):c.161-13C>T
NM_031448.6(C19orf12):c.161-17G>A rs749345042
NM_031448.6(C19orf12):c.161-9G>A
NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu) rs752450983
NM_031448.6(C19orf12):c.161G>C (p.Gly54Ala) rs752450983
NM_031448.6(C19orf12):c.163G>C (p.Gly55Arg) rs1972192000
NM_031448.6(C19orf12):c.165G>A (p.Gly55=) rs201194487
NM_031448.6(C19orf12):c.165G>T (p.Gly55=) rs201194487
NM_031448.6(C19orf12):c.166del rs398122409
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) rs515726204
NM_031448.6(C19orf12):c.174G>A (p.Gly58=)
NM_031448.6(C19orf12):c.189C>T (p.Ala63=)
NM_031448.6(C19orf12):c.1A>G (p.Met1Val)
NM_031448.6(C19orf12):c.204A>T (p.Gly68=) rs1555714878
NM_031448.6(C19orf12):c.211_212dup (p.Pro72fs) rs1972186898
NM_031448.6(C19orf12):c.215C>A (p.Pro72Gln)
NM_031448.6(C19orf12):c.240G>T (p.Leu80=) rs766024250
NM_031448.6(C19orf12):c.244C>A (p.Pro82Thr)
NM_031448.6(C19orf12):c.268A>G (p.Asn90Asp) rs1972180871
NM_031448.6(C19orf12):c.270C>G (p.Asn90Lys)
NM_031448.6(C19orf12):c.270del (p.Asn90fs) rs1555714836
NM_031448.6(C19orf12):c.277G>T (p.Ala93Ser)
NM_031448.6(C19orf12):c.279del (p.Ala94fs) rs2145622361
NM_031448.6(C19orf12):c.282dup (p.Ile95fs) rs1555714827
NM_031448.6(C19orf12):c.286A>G (p.Ile96Val)
NM_031448.6(C19orf12):c.294C>G (p.His98Gln) rs2145622256
NM_031448.6(C19orf12):c.2T>C (p.Met1Thr) rs764309455
NM_031448.6(C19orf12):c.304A>T (p.Thr102Ser)
NM_031448.6(C19orf12):c.334A>G (p.Met112Val)
NM_031448.6(C19orf12):c.342C>T (p.Ser114=)
NM_031448.6(C19orf12):c.347C>A (p.Ala116Asp)
NM_031448.6(C19orf12):c.356A>G (p.Gln119Arg)
NM_031448.6(C19orf12):c.394G>C (p.Glu132Gln)
NM_031448.6(C19orf12):c.405C>T (p.Ala135=)
NM_031448.6(C19orf12):c.406G>A (p.Glu136Lys)
NM_031448.6(C19orf12):c.408G>A (p.Glu136=) rs1485597261
NM_031448.6(C19orf12):c.412C>A (p.Gln138Lys)
NM_031448.6(C19orf12):c.4A>G (p.Thr2Ala) rs2145640278
NM_031448.6(C19orf12):c.57del (p.Lys20fs)
NM_031448.6(C19orf12):c.68C>A (p.Ala23Glu) rs544395324
NM_031448.6(C19orf12):c.72T>C (p.Ala24=)
NM_031448.6(C19orf12):c.7A>G (p.Ile3Val)
NM_031448.6(C19orf12):c.97C>T (p.Leu33=) rs924400456
NM_152415.3(VPS37A):c.1053C>G (p.Asp351Glu) rs2285269
NM_152415.3(VPS37A):c.1113+13C>T
NM_152415.3(VPS37A):c.1114-18C>T
NM_152415.3(VPS37A):c.1145A>C (p.Lys382Thr) rs1554498242
NM_152415.3(VPS37A):c.1158G>A (p.Ala386=)
NM_152415.3(VPS37A):c.1165A>T (p.Met389Leu) rs773370398
NM_152415.3(VPS37A):c.1168C>T (p.His390Tyr)
NM_152415.3(VPS37A):c.1191A>G (p.Leu397=)
NM_152415.3(VPS37A):c.125+11_125+15del
NM_152415.3(VPS37A):c.125+15C>T
NM_152415.3(VPS37A):c.126-14A>C
NM_152415.3(VPS37A):c.126-16A>C
NM_152415.3(VPS37A):c.126-1G>C
NM_152415.3(VPS37A):c.157A>C (p.Arg53=)
NM_152415.3(VPS37A):c.159A>G (p.Arg53=)
NM_152415.3(VPS37A):c.163C>A (p.Pro55Thr)
NM_152415.3(VPS37A):c.201-10C>T
NM_152415.3(VPS37A):c.215A>G (p.Gln72Arg)
NM_152415.3(VPS37A):c.258A>G (p.Ile86Met)
NM_152415.3(VPS37A):c.261A>G (p.Arg87=)
NM_152415.3(VPS37A):c.296C>A (p.Thr99Asn) rs1813663437
NM_152415.3(VPS37A):c.315+11G>A
NM_152415.3(VPS37A):c.316-19C>T
NM_152415.3(VPS37A):c.31G>T (p.Ala11Ser)
NM_152415.3(VPS37A):c.32C>G (p.Ala11Gly)
NM_152415.3(VPS37A):c.361G>A (p.Asp121Asn) rs1020184933
NM_152415.3(VPS37A):c.404C>T (p.Thr135Ile)
NM_152415.3(VPS37A):c.416+3A>G rs1813723711
NM_152415.3(VPS37A):c.417-17_417-15del
NM_152415.3(VPS37A):c.417-20T>C
NM_152415.3(VPS37A):c.417-2A>G rs752142940
NM_152415.3(VPS37A):c.417-9T>C
NM_152415.3(VPS37A):c.424A>T (p.Ser142Cys) rs371463914
NM_152415.3(VPS37A):c.438G>A (p.Gly146=)
NM_152415.3(VPS37A):c.446C>T (p.Pro149Leu) rs560097044
NM_152415.3(VPS37A):c.512C>T (p.Thr171Ile)
NM_152415.3(VPS37A):c.526G>A (p.Ala176Thr) rs1346953622
NM_152415.3(VPS37A):c.526G>T (p.Ala176Ser) rs1346953622
NM_152415.3(VPS37A):c.532A>C (p.Thr178Pro) rs1814361607
NM_152415.3(VPS37A):c.545CAA[2] (p.Thr184del)
NM_152415.3(VPS37A):c.571C>G (p.Pro191Ala)
NM_152415.3(VPS37A):c.577G>A (p.Ala193Thr)
NM_152415.3(VPS37A):c.577G>T (p.Ala193Ser) rs374964443
NM_152415.3(VPS37A):c.600A>T (p.Ser200=)
NM_152415.3(VPS37A):c.606G>T (p.Leu202=) rs1814370834
NM_152415.3(VPS37A):c.623C>T (p.Thr208Ile) rs757586403
NM_152415.3(VPS37A):c.625G>A (p.Val209Met) rs1284443376
NM_152415.3(VPS37A):c.641C>T (p.Pro214Leu)
NM_152415.3(VPS37A):c.642+19C>G
NM_152415.3(VPS37A):c.642+7A>G
NM_152415.3(VPS37A):c.642G>A (p.Pro214=) rs747596394
NM_152415.3(VPS37A):c.643-11C>T
NM_152415.3(VPS37A):c.644C>G (p.Thr215Arg)
NM_152415.3(VPS37A):c.656G>A (p.Gly219Asp)
NM_152415.3(VPS37A):c.660T>C (p.Phe220=)
NM_152415.3(VPS37A):c.676G>C (p.Asp226His)
NM_152415.3(VPS37A):c.685G>T (p.Asp229Tyr)
NM_152415.3(VPS37A):c.699A>G (p.Glu233=)
NM_152415.3(VPS37A):c.718T>A (p.Ser240Thr)
NM_152415.3(VPS37A):c.72C>T (p.Ser24=) rs977660903
NM_152415.3(VPS37A):c.735G>A (p.Met245Ile)
NM_152415.3(VPS37A):c.737A>T (p.Asn246Ile)
NM_152415.3(VPS37A):c.751G>A (p.Val251Ile)
NM_152415.3(VPS37A):c.75C>G (p.Leu25=)
NM_152415.3(VPS37A):c.777G>A (p.Leu259=)
NM_152415.3(VPS37A):c.791A>G (p.Gln264Arg) rs1164015467
NM_152415.3(VPS37A):c.801C>T (p.Thr267=)
NM_152415.3(VPS37A):c.817G>A (p.Val273Ile)
NM_152415.3(VPS37A):c.821A>G (p.Lys274Arg)
NM_152415.3(VPS37A):c.827T>C (p.Ile276Thr)
NM_152415.3(VPS37A):c.834A>G (p.Glu278=) rs541623528
NM_152415.3(VPS37A):c.841+12C>T
NM_152415.3(VPS37A):c.841+16C>T
NM_152415.3(VPS37A):c.841+19G>T
NM_152415.3(VPS37A):c.852C>A (p.Leu284=)
NM_152415.3(VPS37A):c.865A>C (p.Ser289Arg)
NM_152415.3(VPS37A):c.874G>T (p.Ala292Ser) rs776392994
NM_152415.3(VPS37A):c.882A>G (p.Arg294=)
NM_152415.3(VPS37A):c.901-18T>C
NM_152415.3(VPS37A):c.904G>A (p.Glu302Lys)
NM_152415.3(VPS37A):c.912T>C (p.Leu304=)
NM_152415.3(VPS37A):c.915A>G (p.Thr305=)
NM_152415.3(VPS37A):c.950G>C (p.Arg317Thr)
NM_152415.3(VPS37A):c.975T>C (p.Cys325=)
NM_152415.3(VPS37A):c.989T>G (p.Leu330Arg)

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