ClinVar Miner

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

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17053
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.2770+18_2770+19insG rs11370883 0.99994
NM_014844.5(TECPR2):c.958G>A (p.Val320Ile) rs1309353 0.93726
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
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_001160148.2(DDHD1):c.354C>T (p.His118=) rs2358188 0.72343
NM_031448.6(C19orf12):c.324C>T (p.Thr108=) rs10424582 0.72163
NM_001160148.2(DDHD1):c.273C>T (p.Phe91=) rs2358189 0.72157
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_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683 0.65973
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_004722.4(AP4M1):c.462+34G>A rs999885 0.46041
NM_003119.4(SPG7):c.618+12T>C rs3803679 0.45572
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401 0.42071
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41522
NM_003119.4(SPG7):c.376+4364C>T rs8052076 0.41223
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_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39011
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_006459.4(ERLIN1):c.871A>G (p.Ile291Val) rs2862954 0.32670
NM_001166114.2(PNPLA6):c.1253-6C>T rs574930 0.32237
NM_001253852.3(AP4B1):c.618-13G>C rs3789613 0.31448
NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala) rs55873785 0.31221
NM_001244008.2(KIF1A):c.864+16C>T rs2288750 0.27959
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_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24238
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_152415.3(VPS37A):c.202T>C (p.Leu68=) rs11555738 0.22377
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=) rs17135121 0.22358
NM_152415.3(VPS37A):c.1053C>T (p.Asp351=) rs2285269 0.22285
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.22160
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_015915.5(ATL1):c.84A>G (p.Pro28=) rs35014209 0.18809
NM_014846.4(WASHC5):c.979-20C>T rs12546285 0.18463
NM_015915.5(ATL1):c.630+7G>A rs3759588 0.17660
NM_015214.3(DDHD2):c.557C>T (p.Thr186Met) rs2306899 0.17541
NM_014855.3(AP5Z1):c.1707+11T>C rs3750012 0.17011
NM_001166114.2(PNPLA6):c.3210+20T>G rs45505598 0.16710
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=) rs17464525 0.16017
NM_001199753.2(CPT1C):c.2133+11_2133+12insA rs754179152 0.15802
NM_022836.4(DCLRE1B):c.181C>T (p.His61Tyr) rs11552449 0.15327
NM_005154.5(USP8):c.104+16C>T rs11632708 0.14838
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=) rs11542889 0.14383
NM_014846.4(WASHC5):c.187-3C>T rs16900368 0.13363
NM_005154.5(USP8):c.2215A>G (p.Thr739Ala) rs11638390 0.13340
NM_014846.4(WASHC5):c.417+11A>G rs2384917 0.13320
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr) rs28362581 0.13084
NM_001199753.2(CPT1C):c.1326C>T (p.Ala442=) rs12978911 0.13050
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954 0.12849
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960 0.12801
NM_014844.5(TECPR2):c.1869G>A (p.Gly623=) rs45605932 0.12774
NM_001199753.2(CPT1C):c.645G>A (p.Ser215=) rs12973248 0.12608
NM_014846.4(WASHC5):c.1764+12A>G rs3765213 0.11313
NM_006459.4(ERLIN1):c.243-18T>C rs3750707 0.10883
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_005154.5(USP8):c.1857T>C (p.Phe619=) rs10220843 0.09465
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_014855.3(AP5Z1):c.512-7A>G rs73305371 0.07873
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=) rs591040 0.07584
NM_003119.4(SPG7):c.1449+19G>A rs79201073 0.07399
NM_006612.6(KIF1C):c.1938-4C>G rs4790725 0.07329
NM_015161.3(ARL6IP1):c.170+12A>T rs17663173 0.07245
NM_004722.4(AP4M1):c.812G>A (p.Arg271His) rs41280968 0.07094
NM_014855.3(AP5Z1):c.970-13C>T rs73305376 0.06374
NM_014855.3(AP5Z1):c.1377C>T (p.Asp459=) rs17135128 0.06038
NM_003119.4(SPG7):c.1663+13C>T rs80324518 0.05587
NM_001776.6(ENTPD1):c.234G>C (p.Val78=) rs61731067 0.05384
NM_006612.6(KIF1C):c.1937+11G>T rs346826 0.05064
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln) rs11772411 0.05021
NM_014855.3(AP5Z1):c.1131C>T (p.His377=) rs11768079 0.04978
NM_001244008.2(KIF1A):c.4319-8C>T rs1529663 0.04602
NM_014855.3(AP5Z1):c.1939-9C>T rs73305392 0.04460
NM_001160148.2(DDHD1):c.317G>C (p.Gly106Ala) rs117525276 0.04439
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_001244008.2(KIF1A):c.4666-18C>T rs80067787 0.03770
NM_006612.6(KIF1C):c.2298C>T (p.His766=) rs73345356 0.03703
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=) rs61744930 0.03600
NM_001199753.2(CPT1C):c.453+14A>G rs73588425 0.03501
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03433
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=) rs35945835 0.03379
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_014846.4(WASHC5):c.186+17G>A rs59134934 0.03280
NM_001166114.2(PNPLA6):c.2071-15C>T rs7250363 0.03172
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=) rs34751342 0.03013
NM_006070.6(TFG):c.722-8G>T rs41272979 0.02999
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_003119.4(SPG7):c.2292C>T (p.Ile764=) rs61747711 0.02864
NM_014846.4(WASHC5):c.1408+7A>G rs16900312 0.02845
NM_014846.4(WASHC5):c.1151-8G>A rs16900335 0.02839
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=) rs10429323 0.02837
NM_001244008.2(KIF1A):c.2977+13C>T rs116600932 0.02829
NM_005154.5(USP8):c.1328A>G (p.Asp443Gly) rs3743044 0.02684
NM_005154.5(USP8):c.1042G>A (p.Ala348Thr) rs61733869 0.02648
NM_005154.5(USP8):c.3033G>A (p.Leu1011=) rs11857513 0.02558
NM_001199753.2(CPT1C):c.1494C>T (p.Asp498=) rs61747405 0.02515
NM_015915.5(ATL1):c.705C>T (p.Phe235=) rs35044504 0.02457
NM_022089.4(ATP13A2):c.3235+17G>A rs56146840 0.02453
NM_001368809.2(AMPD2):c.1984-19C>T rs75276578 0.02404
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319 0.02380
NM_001244008.2(KIF1A):c.3901+11T>C rs56847463 0.02310
NM_014855.3(AP5Z1):c.1554C>T (p.Phe518=) rs77560694 0.02284
NM_001371279.1(REEP1):c.784-19T>G rs141722767 0.02274
NM_001166114.2(PNPLA6):c.1252+17C>A rs117630756 0.02222
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02201
NM_014855.3(AP5Z1):c.1708-14C>T rs118139547 0.02183
NM_025137.4(SPG11):c.6754+19A>G rs116635875 0.02121
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=) rs2241683 0.02108
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_001244008.2(KIF1A):c.393C>T (p.Asn131=) rs35139906 0.01973
NM_012073.5(CCT5):c.332-18C>G rs11741923 0.01963
NM_004722.4(AP4M1):c.255-16C>T rs74961284 0.01949
NM_003119.4(SPG7):c.1664-15C>A rs80292600 0.01888
NM_001160148.2(DDHD1):c.448G>T (p.Gly150Cys) rs73296180 0.01877
NM_004722.4(AP4M1):c.1305C>T (p.Asn435=) rs4134932 0.01854
NM_001776.6(ENTPD1):c.877G>A (p.Val293Ile) rs3793744 0.01829
NM_003119.4(SPG7):c.1770C>T (p.Ala590=) rs60488729 0.01823
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) rs11766611 0.01795
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=) rs35664935 0.01793
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=) rs35663732 0.01790
NM_003119.4(SPG7):c.2037G>A (p.Ala679=) rs79756036 0.01778
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_005154.5(USP8):c.802T>A (p.Leu268Ile) rs61751062 0.01657
NM_012073.5(CCT5):c.437A>T (p.Glu146Val) rs11557652 0.01601
NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln) rs77890266 0.01561
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) rs11549840 0.01556
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) rs117666541 0.01551
NM_014855.3(AP5Z1):c.1369C>T (p.Leu457=) rs111358719 0.01503
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_001253852.3(AP4B1):c.1365T>C (p.Tyr455=) rs114201291 0.01466
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
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_001244008.2(KIF1A):c.183+15C>T rs73102676 0.01412
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226 0.01390
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) rs77393809 0.01379
NM_016630.7(SPG21):c.843C>T (p.Tyr281=) rs147428832 0.01378
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) rs11549839 0.01367
NM_001244008.2(KIF1A):c.2859-18G>A rs150076186 0.01335
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_001160148.2(DDHD1):c.136G>A (p.Gly46Ser) rs61985140 0.01292
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_005154.5(USP8):c.400C>T (p.Leu134=) rs114541731 0.01271
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752 0.01259
NM_003119.4(SPG7):c.9G>T (p.Val3=) rs553241838 0.01255
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_003119.4(SPG7):c.881G>A (p.Arg294His) rs115661328 0.01169
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=) rs113264142 0.01159
NM_005154.5(USP8):c.3038+16T>G rs116360546 0.01156
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys) rs115454162 0.01129
NM_006070.6(TFG):c.552G>A (p.Ala184=) rs35648279 0.01123
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) rs61747712 0.01110
NM_002361.4(MAG):c.409A>G (p.Ile137Val) rs113328438 0.01072
NM_001166114.2(PNPLA6):c.3094-5C>T rs116788699 0.01066
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075 0.01053
NM_006612.6(KIF1C):c.1166-8C>T rs114935927 0.01049
NM_022089.4(ATP13A2):c.2763-16G>A rs114407349 0.01044
NM_001244008.2(KIF1A):c.363+16C>T rs7594569 0.01003
NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=) rs62637652 0.00997
NM_004722.4(AP4M1):c.58+12C>T rs189367118 0.00997
NM_014855.3(AP5Z1):c.1708-5C>T rs184752711 0.00977
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_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
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_014855.3(AP5Z1):c.1312-20C>T rs114137831 0.00915
NM_015915.5(ATL1):c.35-14G>A rs115722924 0.00906
NM_001166114.2(PNPLA6):c.555-20G>A rs183762415 0.00880
NM_005154.5(USP8):c.2511G>A (p.Leu837=) rs79646551 0.00880
NM_014844.5(TECPR2):c.952-5G>A rs55716270 0.00869
NM_001244008.2(KIF1A):c.184-10C>T rs7594776 0.00865
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862
NM_005154.5(USP8):c.1296A>G (p.Gln432=) rs3131561 0.00850
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_001244008.2(KIF1A):c.3063+17C>T rs116040950 0.00839
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=) rs61732733 0.00809
NM_014855.3(AP5Z1):c.1132+14G>T rs139019097 0.00792
NM_015915.5(ATL1):c.693T>C (p.Gly231=) rs139720661 0.00790
NM_001244008.2(KIF1A):c.5021+16C>T rs138847355 0.00783
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_003119.4(SPG7):c.120G>A (p.Gly40=) rs187330648 0.00779
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_014946.4(SPAST):c.1728+16A>G rs76494041 0.00731
NM_001244008.2(KIF1A):c.3852T>C (p.His1284=) rs184931664 0.00715
NM_006612.6(KIF1C):c.1751-7T>A rs148404628 0.00709
NM_001244008.2(KIF1A):c.4318+17C>T rs138964333 0.00704
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_004722.4(AP4M1):c.228C>T (p.Pro76=) rs41280965 0.00663
NM_001010867.4(IBA57):c.462C>T (p.His154=) rs148398789 0.00658
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=) rs140843407 0.00656
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_003119.4(SPG7):c.1936+12C>T rs112379588 0.00628
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_001160148.2(DDHD1):c.453G>A (p.Pro151=) rs141323589 0.00610
NM_006070.6(TFG):c.663C>A (p.Gly221=) rs140669729 0.00603
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr) rs183580097 0.00602
NM_014855.3(AP5Z1):c.791-5C>T rs73671921 0.00595
NM_001253852.3(AP4B1):c.1793-9C>G rs17031980 0.00589
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_002361.4(MAG):c.1657A>C (p.Asn553His) rs141352771 0.00583
NM_003119.4(SPG7):c.1937-16C>G rs74590011 0.00558
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
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_015915.5(ATL1):c.1230G>A (p.Gly410=) rs148548325 0.00531
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=) rs34249695 0.00525
NM_001271803.2(REEP2):c.696+13G>A rs190729345 0.00525
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_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
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_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415 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_014855.3(AP5Z1):c.369T>C (p.Gly123=) rs182431279 0.00474
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
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_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889 0.00450
NM_006612.6(KIF1C):c.1165+4G>A rs192489748 0.00449
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val) rs145182838 0.00445
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_001199753.2(CPT1C):c.1731+7T>A rs201870376 0.00439
NM_002361.4(MAG):c.1617-17C>T rs148059390 0.00439
NM_005154.5(USP8):c.1448G>A (p.Arg483Gln) rs115970610 0.00426
NM_001371279.1(REEP1):c.486C>T (p.Asp162=) rs139806812 0.00425
NM_004722.4(AP4M1):c.1344C>T (p.Ala448=) rs57403878 0.00425
NM_001166114.2(PNPLA6):c.414-18C>T rs149630061 0.00421
NM_001371279.1(REEP1):c.381C>T (p.Asn127=) rs36008495 0.00419
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_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921 0.00406
NM_005154.5(USP8):c.1162A>G (p.Lys388Glu) rs150568948 0.00404
NM_002361.4(MAG):c.1716+18G>C rs10419210 0.00401
NM_006612.6(KIF1C):c.1815G>A (p.Leu605=) rs78356534 0.00398
NM_016630.7(SPG21):c.318T>C (p.Phe106=) rs147236778 0.00396
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_003119.4(SPG7):c.1653C>T (p.Arg551=) rs56031686 0.00386
NM_014855.3(AP5Z1):c.428G>A (p.Arg143Gln) rs186993311 0.00386
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_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His) rs139687202 0.00369
NM_005154.5(USP8):c.1516A>C (p.Lys506Gln) rs113169913 0.00368
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_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
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_014846.4(WASHC5):c.2100G>A (p.Val700=) rs148936723 0.00357
NM_001199753.2(CPT1C):c.2077C>A (p.Leu693Met) rs79488403 0.00356
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_003119.4(SPG7):c.1779+20G>A rs145805850 0.00345
NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr) rs61745091 0.00343
NM_001160148.2(DDHD1):c.1012+619C>A rs192493244 0.00343
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=) rs201687417 0.00341
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_001244008.2(KIF1A):c.3202+10C>A rs190997558 0.00326
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_001244008.2(KIF1A):c.183+7C>T rs74469870 0.00324
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817 0.00324
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=) rs146682319 0.00321
NM_014855.3(AP5Z1):c.1133-19G>C rs148117172 0.00320
NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=) rs146915189 0.00319
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=) rs114727970 0.00316
NM_001199753.2(CPT1C):c.1524A>G (p.Thr508=) rs181225621 0.00313
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_001244008.2(KIF1A):c.2266-20G>A rs141243762 0.00296
NM_006612.6(KIF1C):c.1937+14A>C rs188650236 0.00288
NM_014855.3(AP5Z1):c.774G>A (p.Pro258=) rs373689894 0.00288
NM_014855.3(AP5Z1):c.768G>A (p.Glu256=) rs377532483 0.00287
NM_014844.5(TECPR2):c.1260C>T (p.Ser420=) rs147784739 0.00286
NM_001160148.2(DDHD1):c.1993-17T>G rs112572275 0.00282
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609 0.00278
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_001244008.2(KIF1A):c.3816+18C>T rs201725464 0.00267
NM_025137.4(SPG11):c.4578A>G (p.Thr1526=) rs151137503 0.00267
NM_003119.4(SPG7):c.987+19G>A rs62071462 0.00263
NM_015915.5(ATL1):c.621G>A (p.Lys207=) rs35629585 0.00263
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_001244008.2(KIF1A):c.4917G>A (p.Leu1639=) rs187810230 0.00252
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_014855.3(AP5Z1):c.41+16G>A rs139999461 0.00247
NM_014844.5(TECPR2):c.1470C>T (p.Ser490=) rs149584733 0.00245
NM_001199753.2(CPT1C):c.721T>C (p.Tyr241His) rs144205321 0.00242
NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser) rs150026441 0.00235
NM_001244008.2(KIF1A):c.1421+19G>A rs200809257 0.00233
NM_001244008.2(KIF1A):c.363+7A>G rs1396977726 0.00230
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00228
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=) rs115985012 0.00228
NM_001199753.2(CPT1C):c.1915G>A (p.Ala639Thr) rs143478074 0.00227
NM_014855.3(AP5Z1):c.366+5C>T rs143800095 0.00227
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_001199753.2(CPT1C):c.2392A>G (p.Met798Val) rs113511313 0.00226
NM_006459.4(ERLIN1):c.369C>T (p.His123=) rs150796906 0.00224
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_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_014946.4(SPAST):c.1493+18G>T rs189961829 0.00213
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 0.00211
NM_014946.4(SPAST):c.865C>T (p.His289Tyr) rs74688377 0.00210
NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=) rs140783695 0.00209
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_005154.5(USP8):c.583A>G (p.Lys195Glu) rs147742292 0.00202
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593 0.00201
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_001244008.2(KIF1A):c.363+20C>T rs199804274 0.00194
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=) rs143815273 0.00194
NM_014946.4(SPAST):c.484G>A (p.Val162Ile) rs141944844 0.00192
NM_001160148.2(DDHD1):c.1503+10A>T rs180742508 0.00191
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=) rs114624650 0.00189
NM_014846.4(WASHC5):c.2771-7T>C rs142685897 0.00181
NM_001271803.2(REEP2):c.565+15C>T rs200034716 0.00180
NM_004722.4(AP4M1):c.525G>A (p.Leu175=) rs113020957 0.00178
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=) rs186881889 0.00175
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_001199753.2(CPT1C):c.1401C>T (p.Ser467=) rs144722270 0.00172
NM_002361.4(MAG):c.47-17C>T rs201985530 0.00172
NM_001271803.2(REEP2):c.78C>T (p.Ala26=) rs146777982 0.00171
NM_001368809.2(AMPD2):c.1984-15C>G rs368592941 0.00168
NM_004722.4(AP4M1):c.861C>T (p.Ser287=) rs142325884 0.00168
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val) rs114945876 0.00165
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala) rs141417436 0.00163
NM_022089.4(ATP13A2):c.3406-14C>T rs139088170 0.00163
NM_001271803.2(REEP2):c.605C>T (p.Pro202Leu) rs111927109 0.00161
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00160
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met) rs183359489 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_014846.4(WASHC5):c.1818C>T (p.Pro606=) rs140063111 0.00156
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_000533.5(PLP1):c.-31C>T rs2233695 0.00152
NM_000533.5(PLP1):c.168A>G (p.Gln56=) rs2233697 0.00150
NM_001160148.2(DDHD1):c.1524A>G (p.Gln508=) rs138906273 0.00150
NM_001244008.2(KIF1A):c.4612C>T (p.Arg1538Cys) rs200184619 0.00150
NM_005154.5(USP8):c.634G>A (p.Asp212Asn) rs150245386 0.00150
NM_001368809.2(AMPD2):c.1276-20A>G rs140464475 0.00149
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167 0.00147
NM_001244008.2(KIF1A):c.2445-8C>T rs200705912 0.00145
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_016630.7(SPG21):c.670-13G>T rs115421171 0.00141
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_003119.4(SPG7):c.4G>A (p.Ala2Thr) rs535030441 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_001253852.3(AP4B1):c.767C>T (p.Thr256Ile) rs143286419 0.00130
NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu) rs200897068 0.00128
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=) rs80242901 0.00128
NM_022089.4(ATP13A2):c.706-14C>T rs371532404 0.00128
NM_006459.4(ERLIN1):c.243-19T>G rs141220781 0.00127
NM_014846.4(WASHC5):c.655G>A (p.Glu219Lys) rs143719918 0.00127
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_001160148.2(DDHD1):c.1191A>G (p.Thr397=) rs139838546 0.00123
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_016630.7(SPG21):c.538G>A (p.Ala180Thr) rs149251662 0.00121
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala) rs111356679 0.00119
NM_001160148.2(DDHD1):c.733G>A (p.Glu245Lys) rs146006539 0.00118
NM_001253852.3(AP4B1):c.898G>T (p.Val300Leu) rs111785152 0.00118
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_014946.4(SPAST):c.415+12G>A rs539075273 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_014855.3(AP5Z1):c.1062C>T (p.His354=) rs192441133 0.00114
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=) rs144816455 0.00112
NM_014855.3(AP5Z1):c.1155G>A (p.Ser385=) rs370926189 0.00112
NM_025137.4(SPG11):c.3068A>G (p.Glu1023Gly) rs143145331 0.00112
NM_001371279.1(REEP1):c.784-16C>T rs182467924 0.00108
NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro) rs146872023 0.00108
NM_014846.4(WASHC5):c.1346G>A (p.Arg449Gln) rs202165114 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_001244008.2(KIF1A):c.5025G>A (p.Pro1675=) rs148176695 0.00106
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=) rs182411153 0.00105
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=) rs368682964 0.00104
NM_002361.4(MAG):c.14C>T (p.Thr5Met) rs149262142 0.00103
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 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_001199753.2(CPT1C):c.1383C>T (p.Asn461=) rs111713532 0.00102
NM_001368809.2(AMPD2):c.855C>T (p.Asp285=) rs114463063 0.00101
NM_014846.4(WASHC5):c.2199+5C>G rs149763012 0.00100
NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=) rs201418175 0.00099
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu) rs72720524 0.00098
NM_001160148.2(DDHD1):c.156C>T (p.Gly52=) rs367621941 0.00096
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_014855.3(AP5Z1):c.558C>T (p.Tyr186=) rs371534878 0.00092
NM_014946.4(SPAST):c.1173+17A>C rs200640366 0.00092
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_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 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_144599.5(NIPA1):c.906C>T (p.Ser302=) rs147070285 0.00087
NM_001160148.2(DDHD1):c.941A>G (p.Asn314Ser) rs148836546 0.00086
NM_004722.4(AP4M1):c.59-14C>G rs202164434 0.00086
NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg) rs142423043 0.00086
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_001371279.1(REEP1):c.529C>T (p.Arg177Trp) rs144874997 0.00084
NM_014855.3(AP5Z1):c.1434G>A (p.Ala478=) rs75185826 0.00084
NM_001244008.2(KIF1A):c.2117-20C>T rs200852469 0.00083
NM_001351169.2(NT5C2):c.1077A>G (p.Lys359=) rs141391492 0.00083
NM_005154.5(USP8):c.1464G>A (p.Glu488=) rs142653887 0.00083
NM_014846.4(WASHC5):c.1029A>G (p.Gln343=) rs140523354 0.00083
NM_025137.4(SPG11):c.4755A>C (p.Ala1585=) rs144951661 0.00083
NM_004722.4(AP4M1):c.975-16C>G rs202052188 0.00082
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_014846.4(WASHC5):c.1605C>T (p.Ile535=) rs143654828 0.00080
NM_014846.4(WASHC5):c.732G>A (p.Pro244=) rs146320386 0.00079
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) rs201196622 0.00079
NM_002361.4(MAG):c.966C>T (p.Val322=) rs147226896 0.00077
NM_001244008.2(KIF1A):c.3749+13G>T rs373544465 0.00076
NM_004722.4(AP4M1):c.740G>C (p.Gly247Ala) rs145887263 0.00075
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_001010867.4(IBA57):c.210G>C (p.Leu70=) rs199589485 0.00073
NM_001160148.2(DDHD1):c.2408A>G (p.His803Arg) rs144016130 0.00073
NM_003119.4(SPG7):c.1324+10C>T rs202070075 0.00073
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr) rs2099104 0.00073
NM_014846.4(WASHC5):c.3181+4C>T rs372154199 0.00073
NM_014855.3(AP5Z1):c.1312-19C>T rs186277796 0.00073
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=) rs372922535 0.00073
NM_014855.3(AP5Z1):c.2131C>G (p.Arg711Gly) rs113184057 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_014855.3(AP5Z1):c.1528C>T (p.Arg510Trp) rs374146548 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_001371279.1(REEP1):c.231G>A (p.Leu77=) rs139808535 0.00070
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_001160148.2(DDHD1):c.882C>T (p.Asp294=) rs147569085 0.00069
NM_012073.5(CCT5):c.166+8del rs773556943 0.00069
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_012073.5(CCT5):c.954C>T (p.Asn318=) rs150870419 0.00068
NM_014844.5(TECPR2):c.952-20T>G rs541077629 0.00068
NM_015915.5(ATL1):c.30T>C (p.Ser10=) rs146613929 0.00068
NM_001244008.2(KIF1A):c.883-5C>A rs201408083 0.00067
NM_003119.4(SPG7):c.199C>T (p.Leu67=) rs148315471 0.00066
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp) rs138437966 0.00066
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_014855.3(AP5Z1):c.1936G>A (p.Val646Met) rs200280538 0.00065
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324 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_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_014844.5(TECPR2):c.1833A>G (p.Thr611=) rs147716085 0.00063
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln) rs121908517 0.00063
NM_016630.7(SPG21):c.63+18A>G rs191335539 0.00063
NM_001199753.2(CPT1C):c.1749C>T (p.Cys583=) rs147638606 0.00062
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=) rs138023728 0.00061
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=) rs371737085 0.00061
NM_003119.4(SPG7):c.1936+13G>A rs147242721 0.00061
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_014844.5(TECPR2):c.606T>C (p.Ser202=) rs140791062 0.00061
NM_014855.3(AP5Z1):c.1584C>T (p.Gly528=) rs377310579 0.00060
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=) rs572271008 0.00060
NM_015915.5(ATL1):c.1200G>A (p.Lys400=) rs144792471 0.00060
NM_001244008.2(KIF1A):c.618G>A (p.Ala206=) rs137913879 0.00059
NM_001776.6(ENTPD1):c.25G>A (p.Val9Met) rs150772804 0.00059
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) rs146975855 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_005154.5(USP8):c.659G>A (p.Ser220Asn) rs140695550 0.00057
NM_025137.4(SPG11):c.1906C>T (p.Leu636=) rs145316065 0.00057
NM_001199753.2(CPT1C):c.291A>C (p.Gln97His) rs150291550 0.00056
NM_001253852.3(AP4B1):c.339-15G>A rs529490243 0.00056
NM_006459.4(ERLIN1):c.114-17G>A rs201392792 0.00056
NM_014946.4(SPAST):c.683-9C>T rs202209866 0.00056
NM_015915.5(ATL1):c.631-7T>A rs186528086 0.00056
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_001244008.2(KIF1A):c.3672G>A (p.Arg1224=) rs371024769 0.00053
NM_001244008.2(KIF1A):c.849C>T (p.Ser283=) rs187442951 0.00053
NM_001253852.3(AP4B1):c.217T>A (p.Cys73Ser) rs552888524 0.00053
NM_001253852.3(AP4B1):c.69A>G (p.Gln23=) rs117872964 0.00053
NM_004722.4(AP4M1):c.930G>A (p.Arg310=) rs141754568 0.00053
NM_006612.6(KIF1C):c.2325C>T (p.Ala775=) rs113398149 0.00053
NM_014846.4(WASHC5):c.316A>G (p.Ile106Val) rs142907217 0.00053
NM_014855.3(AP5Z1):c.588C>T (p.Ser196=) rs146665638 0.00053
NM_014855.3(AP5Z1):c.970-5C>T rs373671779 0.00052
NM_001199753.2(CPT1C):c.2059C>G (p.Pro687Ala) rs200190780 0.00051
NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu) rs183034705 0.00051
NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=) rs34778731 0.00051
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_144599.5(NIPA1):c.312G>A (p.Pro104=) rs139372534 0.00051
NM_152415.3(VPS37A):c.1162G>T (p.Ala388Ser) rs146329558 0.00051
NM_001199753.2(CPT1C):c.288A>C (p.Gly96=) rs140411644 0.00050
NM_001253852.3(AP4B1):c.570A>G (p.Glu190=) rs139775124 0.00050
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_001199753.2(CPT1C):c.2092A>G (p.Asn698Asp) rs143091111 0.00049
NM_001253852.3(AP4B1):c.967T>A (p.Ser323Thr) rs149335605 0.00049
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_001244008.2(KIF1A):c.138G>A (p.Thr46=) rs192880105 0.00048
NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu) rs201825284 0.00048
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_001199753.2(CPT1C):c.2133+12T>G rs767437674 0.00047
NM_003119.4(SPG7):c.1593C>T (p.His531=) rs61747706 0.00047
NM_004722.4(AP4M1):c.1079C>A (p.Ala360Asp) rs145979929 0.00047
NM_014855.3(AP5Z1):c.1566G>T (p.Leu522=) rs563984280 0.00047
NM_014946.4(SPAST):c.243C>G (p.Arg81=) rs146956762 0.00047
NM_001166114.2(PNPLA6):c.171A>C (p.Gly57=) rs140825810 0.00046
NM_004722.4(AP4M1):c.544-6T>G rs372511561 0.00046
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=) rs377507553 0.00046
NM_014946.4(SPAST):c.1493+6G>A rs115659052 0.00046
NM_025137.4(SPG11):c.2874A>C (p.Glu958Asp) rs140164220 0.00046
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
NM_001368809.2(AMPD2):c.1992C>T (p.Val664=) rs143163487 0.00045
NM_005154.5(USP8):c.1675C>T (p.His559Tyr) rs192977674 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_001244008.2(KIF1A):c.1341+7G>T rs184947396 0.00044
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg) rs117659667 0.00044
NM_016630.7(SPG21):c.846G>A (p.Ala282=) rs146986015 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_004722.4(AP4M1):c.407C>T (p.Thr136Met) rs138131967 0.00043
NM_005154.5(USP8):c.250-15T>C rs369842951 0.00043
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_001371279.1(REEP1):c.844G>A (p.Glu282Lys) rs189652973 0.00041
NM_004722.4(AP4M1):c.777G>A (p.Val259=) rs144253083 0.00041
NM_014844.5(TECPR2):c.3465C>A (p.Ser1155Arg) rs75004775 0.00041
NM_015915.5(ATL1):c.408T>C (p.Asp136=) rs76375909 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_006459.4(ERLIN1):c.195+3G>A rs201208911 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_000533.5(PLP1):c.549C>A (p.Thr183=) rs184166250 0.00039
NM_001160148.2(DDHD1):c.1362T>C (p.Pro454=) rs147452605 0.00039
NM_001166114.2(PNPLA6):c.3003C>T (p.Gly1001=) rs145459571 0.00039
NM_001368809.2(AMPD2):c.1081-8C>A rs145268448 0.00039
NM_014855.3(AP5Z1):c.1595+4C>T rs141607676 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_003119.4(SPG7):c.474C>T (p.Leu158=) rs139742860 0.00038
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_014846.4(WASHC5):c.2668-19C>T rs368313044 0.00038
NM_014855.3(AP5Z1):c.1806-15C>T rs201620155 0.00038
NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr) rs200490093 0.00038
NM_014855.3(AP5Z1):c.874C>T (p.Arg292Trp) rs199760184 0.00038
NM_001244008.2(KIF1A):c.430-14G>A rs201456681 0.00037
NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu) rs200902828 0.00037
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg) rs201047107 0.00037
NM_001253852.3(AP4B1):c.912G>A (p.Leu304=) rs146053295 0.00037
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_001244008.2(KIF1A):c.405C>T (p.Asn135=) rs151212200 0.00036
NM_001253852.3(AP4B1):c.389G>A (p.Arg130Gln) rs147043117 0.00036
NM_002361.4(MAG):c.1152C>T (p.Pro384=) rs78408471 0.00036
NM_006459.4(ERLIN1):c.67G>A (p.Ala23Thr) rs140620682 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_014855.3(AP5Z1):c.675G>C (p.Val225=) rs374167435 0.00036
NM_014946.4(SPAST):c.502+18T>C rs201013227 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_014946.4(SPAST):c.1362G>A (p.Glu454=) rs138849656 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_001244008.2(KIF1A):c.3468C>T (p.Ile1156=) rs201981364 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_000533.5(PLP1):c.763-20C>A rs201103416 0.00033
NM_001368809.2(AMPD2):c.1080+15C>T rs183445342 0.00033
NM_001244008.2(KIF1A):c.1437C>T (p.Ala479=) rs375180690 0.00032
NM_001244008.2(KIF1A):c.2079G>A (p.Pro693=) rs201961762 0.00032
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_015915.5(ATL1):c.1329T>C (p.His443=) rs146164574 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_001199753.2(CPT1C):c.453+4T>C rs372026933 0.00031
NM_001244008.2(KIF1A):c.4581C>T (p.Ser1527=) rs373703367 0.00031
NM_001253852.3(AP4B1):c.2004C>T (p.Thr668=) rs143354033 0.00031
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_003119.4(SPG7):c.318G>A (p.Leu106=) rs115601365 0.00031
NM_005154.5(USP8):c.1434A>G (p.Gln478=) rs754921595 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_014846.4(WASHC5):c.1945A>G (p.Ile649Val) rs774897141 0.00031
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_016630.7(SPG21):c.771A>C (p.Pro257=) rs141785149 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_014855.3(AP5Z1):c.2400G>A (p.Arg800=) rs368571200 0.00030
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=) rs199994961 0.00030
NM_144599.5(NIPA1):c.21A>G (p.Ala7=) rs749414711 0.00030
NM_001160148.2(DDHD1):c.1008A>G (p.Lys336=) rs143307366 0.00029
NM_001160148.2(DDHD1):c.204G>A (p.Ala68=) rs139727469 0.00029
NM_001199753.2(CPT1C):c.1017C>T (p.Gly339=) rs199675613 0.00029
NM_001199753.2(CPT1C):c.975C>T (p.Arg325=) rs148461300 0.00029
NM_001244008.2(KIF1A):c.720+5G>A rs377502239 0.00029
NM_004722.4(AP4M1):c.960C>T (p.Asp320=) rs371162812 0.00029
NM_005154.5(USP8):c.1365C>T (p.Leu455=) rs139912757 0.00029
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_014855.3(AP5Z1):c.671C>T (p.Thr224Met) rs201862383 0.00029
NM_014946.4(SPAST):c.289C>A (p.Pro97Thr) rs372005558 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_001160148.2(DDHD1):c.100T>G (p.Phe34Val) rs771285016 0.00028
NM_001253852.3(AP4B1):c.1244G>A (p.Cys415Tyr) rs200590674 0.00028
NM_001271803.2(REEP2):c.159G>A (p.Thr53=) rs138667579 0.00028
NM_014846.4(WASHC5):c.12T>C (p.Phe4=) rs202120400 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_001199753.2(CPT1C):c.321C>T (p.Ala107=) rs145821626 0.00027
NM_001244008.2(KIF1A):c.1578-15G>T rs199649700 0.00027
NM_001776.6(ENTPD1):c.1075-15G>A rs373805682 0.00027
NM_003119.4(SPG7):c.244C>G (p.Gln82Glu) rs146115797 0.00027
NM_006612.6(KIF1C):c.1571+6G>A rs200438845 0.00027
NM_014855.3(AP5Z1):c.490A>G (p.Ser164Gly) rs202169962 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_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
NM_001244008.2(KIF1A):c.4985G>A (p.Arg1662His) rs199557318 0.00026
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val) rs199804623 0.00026
NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys) rs570605098 0.00026
NM_003119.4(SPG7):c.1937-9G>A rs371739639 0.00026
NM_004722.4(AP4M1):c.561T>G (p.Val187=) rs775529957 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_014855.3(AP5Z1):c.1284C>G (p.Leu428=) rs368076671 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_014855.3(AP5Z1):c.2232G>A (p.Ala744=) rs534516510 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_001199753.2(CPT1C):c.196T>G (p.Phe66Val) rs201119466 0.00024
NM_001244008.2(KIF1A):c.4744-5C>T rs117815481 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_003119.4(SPG7):c.1267G>A (p.Gly423Ser) rs201543030 0.00024
NM_003119.4(SPG7):c.1359G>A (p.Ala453=) rs115448299 0.00024
NM_003119.4(SPG7):c.822G>C (p.Leu274=) rs148032495 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_014846.4(WASHC5):c.2422A>G (p.Ile808Val) rs144507279 0.00024
NM_014855.3(AP5Z1):c.8C>T (p.Ser3Leu) rs201971666 0.00024
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 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_001244008.2(KIF1A):c.3053A>C (p.His1018Pro) rs201846946 0.00023
NM_001244008.2(KIF1A):c.4851C>T (p.Tyr1617=) rs202049905 0.00023
NM_001253852.3(AP4B1):c.1843T>G (p.Ser615Ala) rs148748734 0.00023
NM_002361.4(MAG):c.1344G>A (p.Ser448=) rs149838575 0.00023
NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr) rs147738731 0.00023
NM_004722.4(AP4M1):c.380C>T (p.Thr127Met) rs147261925 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_014855.3(AP5Z1):c.1785G>T (p.Gly595=) rs774921196 0.00023
NM_014946.4(SPAST):c.1593A>G (p.Gln531=) rs754291673 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_000533.5(PLP1):c.579C>T (p.Thr193=) rs778217267 0.00022
NM_001160148.2(DDHD1):c.976G>C (p.Asp326His) rs145456012 0.00022
NM_001166114.2(PNPLA6):c.1056C>T (p.Thr352=) rs759971785 0.00022
NM_001244008.2(KIF1A):c.5333+19C>T rs369881691 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_003119.4(SPG7):c.220G>A (p.Gly74Arg) rs114854791 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_014855.3(AP5Z1):c.2387G>A (p.Arg796Gln) rs199981070 0.00022
NM_014855.3(AP5Z1):c.790+18A>T rs150460713 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_001199753.2(CPT1C):c.855C>T (p.Arg285=) rs140099471 0.00021
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=) rs199996308 0.00021
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met) rs374873057 0.00021
NM_001244008.2(KIF1A):c.4998T>C (p.Pro1666=) rs201119646 0.00021
NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met) rs200511467 0.00021
NM_001244008.2(KIF1A):c.5301C>T (p.Tyr1767=) rs373440327 0.00021
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_004722.4(AP4M1):c.1100G>A (p.Arg367Gln) rs139861201 0.00021
NM_004722.4(AP4M1):c.137C>T (p.Pro46Leu) rs141331558 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_014846.4(WASHC5):c.2017-13T>C rs74458977 0.00021
NM_014855.3(AP5Z1):c.1916G>C (p.Arg639Thr) rs201798269 0.00021
NM_014855.3(AP5Z1):c.511+19A>G rs367613413 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_001253852.3(AP4B1):c.968C>T (p.Ser323Leu) rs142732858 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_004722.4(AP4M1):c.295G>A (p.Glu99Lys) rs200347699 0.00020
NM_006459.4(ERLIN1):c.276A>G (p.Glu92=) rs139168020 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_144599.5(NIPA1):c.801G>T (p.Val267=) rs185222838 0.00020
NM_000533.5(PLP1):c.255C>T (p.Leu85=) rs140047941 0.00019
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_001199753.2(CPT1C):c.1708G>A (p.Ala570Thr) rs149943122 0.00019
NM_001244008.2(KIF1A):c.3234C>A (p.Ser1078Arg) rs553976598 0.00019
NM_001244008.2(KIF1A):c.882+8G>A rs376552408 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_003119.4(SPG7):c.2181+19G>A rs201539829 0.00019
NM_003119.4(SPG7):c.2182-18T>C rs374106302 0.00019
NM_005154.5(USP8):c.2896-9T>C rs199745319 0.00019
NM_014844.5(TECPR2):c.3108G>A (p.Gln1036=) rs140351132 0.00019
NM_014855.3(AP5Z1):c.1724T>G (p.Leu575Arg) rs562425834 0.00019
NM_014855.3(AP5Z1):c.2060C>G (p.Ser687Cys) rs201478168 0.00019
NM_014855.3(AP5Z1):c.258C>T (p.Cys86=) rs369050534 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_001244008.2(KIF1A):c.2582+4G>A rs572013653 0.00018
NM_001244008.2(KIF1A):c.3202+8G>A rs371620074 0.00018
NM_001244008.2(KIF1A):c.364-14C>G rs376290711 0.00018
NM_001244008.2(KIF1A):c.3681G>A (p.Pro1227=) rs370913170 0.00018
NM_001244008.2(KIF1A):c.4120G>A (p.Glu1374Lys) rs951775920 0.00018
NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=) rs775395101 0.00018
NM_001244008.2(KIF1A):c.864+17G>A rs754302455 0.00018
NM_001371279.1(REEP1):c.519G>A (p.Pro173=) rs376647453 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_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser) rs372517211 0.00018
NM_014946.4(SPAST):c.1617-3C>T rs201212542 0.00018
NM_016630.7(SPG21):c.471A>G (p.Ala157=) rs377558467 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_001199753.2(CPT1C):c.1125C>T (p.His375=) rs141956324 0.00017
NM_001244008.2(KIF1A):c.1422-8T>C rs368650174 0.00017
NM_001244008.2(KIF1A):c.4206G>A (p.Ser1402=) rs201656750 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_003119.4(SPG7):c.1764G>A (p.Thr588=) rs373536584 0.00017
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser) rs199689138 0.00017
NM_005154.5(USP8):c.250-8A>C rs199586071 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_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys) rs367867460 0.00017
NM_014946.4(SPAST):c.1536+17G>T rs201026422 0.00017
NM_015214.3(DDHD2):c.1575C>T (p.Tyr525=) rs139004425 0.00017
NM_015915.5(ATL1):c.1428A>G (p.Leu476=) rs367898123 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_001160148.2(DDHD1):c.1120C>A (p.Gln374Lys) rs143813159 0.00016
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_001199753.2(CPT1C):c.1803G>A (p.Thr601=) rs367578193 0.00016
NM_001244008.2(KIF1A):c.1421+10G>A rs191716550 0.00016
NM_001244008.2(KIF1A):c.2106C>T (p.Pro702=) rs372340696 0.00016
NM_001244008.2(KIF1A):c.3247G>A (p.Ala1083Thr) rs201793635 0.00016
NM_001244008.2(KIF1A):c.4249T>A (p.Ser1417Thr) rs200855792 0.00016
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp) rs201139273 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_003119.4(SPG7):c.862-16T>G rs199954282 0.00016
NM_004722.4(AP4M1):c.1245G>A (p.Thr415=) rs142429364 0.00016
NM_005154.5(USP8):c.1148C>T (p.Pro383Leu) rs755896571 0.00016
NM_005154.5(USP8):c.1872C>T (p.Asp624=) rs375855680 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_014846.4(WASHC5):c.1178G>A (p.Arg393His) rs151298198 0.00016
NM_014846.4(WASHC5):c.2199+4C>A rs145721086 0.00016
NM_014846.4(WASHC5):c.555T>C (p.Asp185=) rs145934920 0.00016
NM_014855.3(AP5Z1):c.1473C>G (p.Ser491=) rs370135619 0.00016
NM_014855.3(AP5Z1):c.1601C>T (p.Ala534Val) rs764332870 0.00016
NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=) rs543467648 0.00016
NM_014855.3(AP5Z1):c.617G>A (p.Arg206Gln) rs774461879 0.00016
NM_014855.3(AP5Z1):c.691C>T (p.Arg231Cys) rs774832344 0.00016
NM_015915.5(ATL1):c.991-6T>G rs192428744 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_001199753.2(CPT1C):c.1292C>T (p.Ala431Val) rs776700182 0.00015
NM_001199753.2(CPT1C):c.1308C>T (p.Tyr436=) rs138872867 0.00015
NM_001199753.2(CPT1C):c.1707C>T (p.Ile569=) rs139121663 0.00015
NM_001199753.2(CPT1C):c.200G>A (p.Ser67Asn) rs151219989 0.00015
NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu) rs374244985 0.00015
NM_001244008.2(KIF1A):c.3902-18C>T rs367548685 0.00015
NM_001244008.2(KIF1A):c.4666-17G>A rs372562861 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_001371279.1(REEP1):c.483A>G (p.Gly161=) rs373854674 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_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551 0.00015
NM_014855.3(AP5Z1):c.1567C>T (p.Arg523Cys) rs201067711 0.00015
NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=) rs200617745 0.00015
NM_014855.3(AP5Z1):c.2019C>G (p.Ala673=) rs368623061 0.00015
NM_014855.3(AP5Z1):c.2375G>A (p.Arg792His) rs201677317 0.00015
NM_016630.7(SPG21):c.204A>G (p.Gly68=) rs144361698 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_144599.5(NIPA1):c.681C>T (p.Leu227=) rs200282898 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_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln) rs774604596 0.00014
NM_001244008.2(KIF1A):c.258T>C (p.Phe86=) rs183284555 0.00014
NM_001244008.2(KIF1A):c.3094A>T (p.Met1032Leu) rs370378060 0.00014
NM_001244008.2(KIF1A):c.4123-12C>T rs373658287 0.00014
NM_001244008.2(KIF1A):c.4666-20C>T rs370512368 0.00014
NM_001253852.3(AP4B1):c.373A>G (p.Ile125Val) rs143769705 0.00014
NM_001271803.2(REEP2):c.388G>A (p.Ala130Thr) rs201267841 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_001371279.1(REEP1):c.518C>T (p.Pro173Leu) rs777245164 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_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_003119.4(SPG7):c.782C>T (p.Thr261Met) rs370949294 0.00014
NM_004722.4(AP4M1):c.630G>A (p.Val210=) rs537780447 0.00014
NM_004722.4(AP4M1):c.975-14C>T rs370610939 0.00014
NM_005154.5(USP8):c.541+9G>A rs141310097 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_014855.3(AP5Z1):c.684C>T (p.Ser228=) rs746349613 0.00014
NM_014946.4(SPAST):c.165C>T (p.Tyr55=) rs368951498 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_015915.5(ATL1):c.1152A>G (p.Pro384=) rs377127492 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_001244008.2(KIF1A):c.1233C>T (p.Ser411=) rs201140044 0.00013
NM_001244008.2(KIF1A):c.1498-18C>T rs377208782 0.00013
NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn) rs375972461 0.00013
NM_001244008.2(KIF1A):c.2955C>T (p.Arg985=) rs537989393 0.00013
NM_001244008.2(KIF1A):c.4306G>A (p.Ala1436Thr) rs200126737 0.00013
NM_001244008.2(KIF1A):c.714G>A (p.Thr238=) rs201970806 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_003119.4(SPG7):c.80C>G (p.Pro27Arg) rs878854605 0.00013
NM_003119.4(SPG7):c.89G>A (p.Ser30Asn) rs863224215 0.00013
NM_006459.4(ERLIN1):c.762C>A (p.Ala254=) rs143495333 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_014846.4(WASHC5):c.405A>G (p.Gly135=) rs529518868 0.00013
NM_014855.3(AP5Z1):c.1463C>T (p.Pro488Leu) rs372654170 0.00013
NM_014855.3(AP5Z1):c.1685C>T (p.Ala562Val) rs370300896 0.00013
NM_014855.3(AP5Z1):c.2287G>A (p.Val763Met) rs147369435 0.00013
NM_014946.4(SPAST):c.926G>A (p.Arg309His) rs202152835 0.00013
NM_015915.5(ATL1):c.1173C>T (p.His391=) rs149340140 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_144599.5(NIPA1):c.753G>C (p.Ala251=) rs199718530 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_001244008.2(KIF1A):c.1221G>A (p.Leu407=) rs201242759 0.00012
NM_001244008.2(KIF1A):c.1856C>T (p.Ala619Val) rs765812659 0.00012
NM_001244008.2(KIF1A):c.4319-14C>T rs376327257 0.00012
NM_001244008.2(KIF1A):c.5130C>T (p.Ser1710=) rs553465326 0.00012
NM_002361.4(MAG):c.1274G>A (p.Arg425Gln) rs144213585 0.00012
NM_003119.4(SPG7):c.1197C>T (p.Ala399=) rs373627269 0.00012
NM_003119.4(SPG7):c.2250G>A (p.Pro750=) rs144039221 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_014846.4(WASHC5):c.1217A>G (p.Asn406Ser) rs200456170 0.00012
NM_014846.4(WASHC5):c.187-6T>C rs200227798 0.00012
NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val) rs146623998 0.00012
NM_014846.4(WASHC5):c.2829G>A (p.Ala943=) rs369339497 0.00012
NM_014855.3(AP5Z1):c.550C>T (p.Leu184=) rs373829290 0.00012
NM_015915.5(ATL1):c.90A>G (p.Lys30=) rs200452381 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_144599.5(NIPA1):c.525C>T (p.Leu175=) rs769522060 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_001199753.2(CPT1C):c.1449+7C>T rs368891420 0.00011
NM_001244008.2(KIF1A):c.184-9G>A rs528203482 0.00011
NM_001244008.2(KIF1A):c.3160G>A (p.Val1054Met) rs371233697 0.00011
NM_001244008.2(KIF1A):c.3646G>A (p.Ala1216Thr) rs368057315 0.00011
NM_001244008.2(KIF1A):c.3671G>A (p.Arg1224Gln) rs375993206 0.00011
NM_001244008.2(KIF1A):c.4498G>C (p.Glu1500Gln) rs376432305 0.00011
NM_001244008.2(KIF1A):c.4869-13C>T rs772025810 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_003119.4(SPG7):c.2274C>T (p.Ile758=) rs147302322 0.00011
NM_003119.4(SPG7):c.250T>C (p.Leu84=) rs138965309 0.00011
NM_003119.4(SPG7):c.76G>T (p.Gly26Cys) rs763721899 0.00011
NM_005154.5(USP8):c.3334C>T (p.Arg1112Ter) rs142928952 0.00011
NM_005154.5(USP8):c.762G>A (p.Glu254=) rs370876235 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_006459.4(ERLIN1):c.430+4A>T rs377363754 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_014846.4(WASHC5):c.1007G>C (p.Arg336Thr) rs150430170 0.00011
NM_014846.4(WASHC5):c.2098-13G>A rs375720047 0.00011
NM_014846.4(WASHC5):c.552C>T (p.Asp184=) rs140203497 0.00011
NM_014846.4(WASHC5):c.639G>C (p.Gln213His) rs141234822 0.00011
NM_014855.3(AP5Z1):c.1003C>G (p.Leu335Val) rs199930373 0.00011
NM_014855.3(AP5Z1):c.1595+16G>A rs775187848 0.00011
NM_014855.3(AP5Z1):c.2386C>T (p.Arg796Trp) rs764310871 0.00011
NM_014855.3(AP5Z1):c.765C>T (p.Pro255=) rs750707781 0.00011
NM_014946.4(SPAST):c.661C>T (p.Arg221Cys) rs371848866 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_144599.5(NIPA1):c.315C>T (p.Phe105=) rs373273269 0.00011
NM_001010867.4(IBA57):c.1032C>T (p.Ala344=) rs371687353 0.00010
NM_001160148.2(DDHD1):c.278C>T (p.Ser93Phe) rs368145864 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_001244008.2(KIF1A):c.4308G>A (p.Ala1436=) rs370868080 0.00010
NM_001244008.2(KIF1A):c.4623C>G (p.Pro1541=) rs556138159 0.00010
NM_001244008.2(KIF1A):c.4847G>A (p.Arg1616Gln) rs770999382 0.00010
NM_001244008.2(KIF1A):c.774G>A (p.Thr258=) rs774916700 0.00010
NM_001253852.3(AP4B1):c.1148T>C (p.Val383Ala) rs757927686 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_003119.4(SPG7):c.1275C>T (p.Ser425=) rs778305316 0.00010
NM_003119.4(SPG7):c.1664-13G>A rs376384545 0.00010
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_003119.4(SPG7):c.338A>G (p.Lys113Arg) rs771130240 0.00010
NM_003119.4(SPG7):c.619C>T (p.Arg207Trp) rs199751531 0.00010
NM_003119.4(SPG7):c.638G>A (p.Arg213Gln) rs147673636 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_014855.3(AP5Z1):c.1132+7C>T rs775865217 0.00010
NM_014855.3(AP5Z1):c.2014G>A (p.Glu672Lys) rs145463842 0.00010
NM_014855.3(AP5Z1):c.2248C>A (p.Arg750=) rs376075136 0.00010
NM_014855.3(AP5Z1):c.2354C>G (p.Thr785Arg) rs567731124 0.00010
NM_014855.3(AP5Z1):c.636C>T (p.Thr212=) rs777143531 0.00010
NM_014946.4(SPAST):c.324G>C (p.Val108=) rs750637923 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_015915.5(ATL1):c.306C>A (p.Asp102Glu) rs145204580 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_001160148.2(DDHD1):c.1673A>G (p.Gln558Arg) rs199607183 0.00009
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_001199753.2(CPT1C):c.1894G>A (p.Val632Met) rs141139944 0.00009
NM_001199753.2(CPT1C):c.2259C>T (p.Asp753=) rs138794903 0.00009
NM_001244008.2(KIF1A):c.1890C>T (p.Phe630=) rs374362504 0.00009
NM_001244008.2(KIF1A):c.2319C>T (p.Pro773=) rs372521119 0.00009
NM_001244008.2(KIF1A):c.2925C>T (p.Ser975=) rs556611351 0.00009
NM_001244008.2(KIF1A):c.3465C>T (p.Asn1155=) rs371782922 0.00009
NM_001244008.2(KIF1A):c.3871C>T (p.Arg1291Cys) rs199998986 0.00009
NM_001244008.2(KIF1A):c.4110C>T (p.Ser1370=) rs374134509 0.00009
NM_001244008.2(KIF1A):c.4123-11G>A rs369835159 0.00009
NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=) rs375309925 0.00009
NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile) rs371831198 0.00009
NM_001244008.2(KIF1A):c.459C>T (p.Arg153=) rs201515208 0.00009
NM_001244008.2(KIF1A):c.5022-19C>T rs369225438 0.00009
NM_001244008.2(KIF1A):c.5091C>T (p.Phe1697=) rs372903282 0.00009
NM_001244008.2(KIF1A):c.5151G>T (p.Arg1717=) rs183583788 0.00009
NM_001244008.2(KIF1A):c.5332C>T (p.Arg1778Trp) rs765668490 0.00009
NM_001253852.3(AP4B1):c.1497G>T (p.Leu499Phe) rs147573619 0.00009
NM_001253852.3(AP4B1):c.175A>G (p.Thr59Ala) rs151293980 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001271803.2(REEP2):c.252C>T (p.Ser84=) rs766974492 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.1248G>A (p.Gly416=) rs757733068 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_003119.4(SPG7):c.1053C>T (p.Pro351=) rs762689331 0.00009
NM_003119.4(SPG7):c.1324+18C>T rs372803371 0.00009
NM_003119.4(SPG7):c.161A>G (p.Glu54Gly) rs750617337 0.00009
NM_003119.4(SPG7):c.1971C>T (p.Ile657=) rs140356355 0.00009
NM_003119.4(SPG7):c.454A>G (p.Met152Val) rs146186857 0.00009
NM_003119.4(SPG7):c.483C>T (p.Ser161=) rs144509309 0.00009
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys) rs145776296 0.00009
NM_004722.4(AP4M1):c.1128C>T (p.Gly376=) rs372787797 0.00009
NM_004722.4(AP4M1):c.1293C>T (p.Cys431=) rs151301464 0.00009
NM_005154.5(USP8):c.1922G>A (p.Ser641Asn) rs372108112 0.00009
NM_006459.4(ERLIN1):c.728G>A (p.Arg243His) rs781383034 0.00009
NM_006459.4(ERLIN1):c.878C>A (p.Ser293Tyr) rs755659573 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_014846.4(WASHC5):c.122G>A (p.Arg41Lys) rs200850741 0.00009
NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn) rs758919422 0.00009
NM_014846.4(WASHC5):c.2139G>A (p.Glu713=) rs201066199 0.00009
NM_014846.4(WASHC5):c.418-9T>G rs760094704 0.00009
NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter) rs373919408 0.00009
NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=) rs60284677 0.00009
NM_014855.3(AP5Z1):c.1795G>A (p.Gly599Ser) rs369917291 0.00009
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr) rs775883752 0.00009
NM_014855.3(AP5Z1):c.834C>T (p.Ser278=) rs113192428 0.00009
NM_014855.3(AP5Z1):c.931+10C>A rs377356001 0.00009
NM_014855.3(AP5Z1):c.970-12C>G rs372506896 0.00009
NM_014946.4(SPAST):c.1155G>A (p.Gly385=) rs778305717 0.00009
NM_014946.4(SPAST):c.712C>A (p.Pro238Thr) rs140094231 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_015214.3(DDHD2):c.622+12C>T rs185403049 0.00009
NM_015915.5(ATL1):c.322A>G (p.Thr108Ala) rs112496709 0.00009
NM_015915.5(ATL1):c.417+3A>G rs200310890 0.00009
NM_016630.7(SPG21):c.223G>A (p.Ala75Thr) rs760497590 0.00009
NM_016630.7(SPG21):c.243T>C (p.Tyr81=) rs373904630 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_001160148.2(DDHD1):c.579C>T (p.Ala193=) rs149564453 0.00008
NM_001160148.2(DDHD1):c.812G>T (p.Gly271Val) rs747496321 0.00008
NM_001166114.2(PNPLA6):c.414-14T>C rs953147743 0.00008
NM_001244008.2(KIF1A):c.1596C>T (p.Gly532=) rs754916421 0.00008
NM_001244008.2(KIF1A):c.3264G>A (p.Leu1088=) rs374238759 0.00008
NM_001244008.2(KIF1A):c.3584+16C>T rs773804422 0.00008
NM_001244008.2(KIF1A):c.3599C>T (p.Ser1200Leu) rs763750448 0.00008
NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=) rs201733233 0.00008
NM_001244008.2(KIF1A):c.5368C>T (p.Arg1790Trp) rs375509312 0.00008
NM_001253852.3(AP4B1):c.1865C>T (p.Pro622Leu) rs767679115 0.00008
NM_001253852.3(AP4B1):c.1868A>G (p.Asn623Ser) rs201876159 0.00008
NM_001253852.3(AP4B1):c.2200A>G (p.Ile734Val) rs79050956 0.00008
NM_001368809.2(AMPD2):c.726G>A (p.Pro242=) rs199980707 0.00008
NM_001371279.1(REEP1):c.105+10A>G rs776380158 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_003119.4(SPG7):c.1049C>A (p.Pro350His) rs376254211 0.00008
NM_003119.4(SPG7):c.1213G>A (p.Val405Ile) rs115999025 0.00008
NM_003119.4(SPG7):c.2058C>T (p.Ile686=) rs776262023 0.00008
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val) rs754203248 0.00008
NM_003119.4(SPG7):c.2103+7C>T rs372981678 0.00008
NM_004722.4(AP4M1):c.1341C>T (p.Asp447=) rs551239733 0.00008
NM_004722.4(AP4M1):c.243A>G (p.Glu81=) rs200156998 0.00008
NM_004722.4(AP4M1):c.771C>T (p.Ser257=) rs545459309 0.00008
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala) rs542768500 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_014855.3(AP5Z1):c.1026C>T (p.Phe342=) rs759537675 0.00008
NM_014855.3(AP5Z1):c.1175T>C (p.Leu392Pro) rs772560472 0.00008
NM_014855.3(AP5Z1):c.1938+11C>T rs201888478 0.00008
NM_014855.3(AP5Z1):c.2407G>A (p.Gly803Ser) rs201682318 0.00008
NM_014855.3(AP5Z1):c.329G>A (p.Arg110Gln) rs201481802 0.00008
NM_014855.3(AP5Z1):c.366+4G>A rs776790989 0.00008
NM_014855.3(AP5Z1):c.864G>A (p.Pro288=) rs372643577 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_144599.5(NIPA1):c.448G>T (p.Ala150Ser) rs376665085 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_001160148.2(DDHD1):c.2432C>G (p.Ser811Cys) rs193261227 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_001199753.2(CPT1C):c.141+10G>A rs138313329 0.00007
NM_001199753.2(CPT1C):c.996C>T (p.His332=) rs199774629 0.00007
NM_001244008.2(KIF1A):c.137C>T (p.Thr46Met) rs182395595 0.00007
NM_001244008.2(KIF1A):c.1768+17C>T rs756389398 0.00007
NM_001244008.2(KIF1A):c.2341G>A (p.Ala781Thr) rs369842871 0.00007
NM_001244008.2(KIF1A):c.3202+7C>T rs781712580 0.00007
NM_001244008.2(KIF1A):c.4512C>T (p.Thr1504=) rs377180036 0.00007
NM_001244008.2(KIF1A):c.4665+4G>C rs772449700 0.00007
NM_001244008.2(KIF1A):c.4821C>T (p.Ser1607=) rs371014474 0.00007
NM_001244008.2(KIF1A):c.5087G>A (p.Arg1696His) rs756912340 0.00007
NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp) rs752781534 0.00007
NM_001271803.2(REEP2):c.255C>T (p.Ser85=) rs373285211 0.00007
NM_001371279.1(REEP1):c.396G>A (p.Ala132=) rs377712421 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_003119.4(SPG7):c.1663+9G>A rs756489401 0.00007
NM_003119.4(SPG7):c.1937-15G>A rs201272528 0.00007
NM_003119.4(SPG7):c.306C>T (p.Asn102=) rs147397994 0.00007
NM_004722.4(AP4M1):c.514C>T (p.Arg172Cys) rs141174349 0.00007
NM_005154.5(USP8):c.2297A>G (p.Asn766Ser) rs144130206 0.00007
NM_005154.5(USP8):c.397C>T (p.Arg133Trp) rs202135045 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_014846.4(WASHC5):c.1522-10T>A rs200283018 0.00007
NM_014846.4(WASHC5):c.2580C>T (p.Leu860=) rs375214976 0.00007
NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr) rs373599521 0.00007
NM_014846.4(WASHC5):c.451C>T (p.Leu151=) rs6470336 0.00007
NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=) rs569601905 0.00007
NM_014855.3(AP5Z1):c.1708-16C>T rs551043856 0.00007
NM_014855.3(AP5Z1):c.2010C>A (p.Phe670Leu) rs750796286 0.00007
NM_014855.3(AP5Z1):c.2013C>T (p.Phe671=) rs750771636 0.00007
NM_014855.3(AP5Z1):c.500C>A (p.Thr167Asn) rs748108455 0.00007
NM_014946.4(SPAST):c.1809G>A (p.Ala603=) rs769450158 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_015915.5(ATL1):c.1213G>A (p.Val405Met) rs201240362 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_001160148.2(DDHD1):c.12G>A (p.Pro4=) rs973574548 0.00006
NM_001160148.2(DDHD1):c.146C>T (p.Pro49Leu) rs747202346 0.00006
NM_001160148.2(DDHD1):c.513C>G (p.Phe171Leu) rs768701113 0.00006
NM_001160148.2(DDHD1):c.687C>T (p.Asp229=) rs769806406 0.00006
NM_001160148.2(DDHD1):c.838+14C>T rs372898360 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_001199753.2(CPT1C):c.1296G>A (p.Ser432=) rs371844232 0.00006
NM_001199753.2(CPT1C):c.156C>T (p.Thr52=) rs149279870 0.00006
NM_001199753.2(CPT1C):c.863G>A (p.Arg288His) rs143361095 0.00006
NM_001199753.2(CPT1C):c.969C>T (p.Tyr323=) rs145579693 0.00006
NM_001244008.2(KIF1A):c.1208-14C>T rs754002758 0.00006
NM_001244008.2(KIF1A):c.1290C>G (p.His430Gln) rs369856336 0.00006
NM_001244008.2(KIF1A):c.1847C>T (p.Thr616Met) rs370071963 0.00006
NM_001244008.2(KIF1A):c.2022+9C>T rs751175706 0.00006
NM_001244008.2(KIF1A):c.2078C>T (p.Pro693Leu) rs756842462 0.00006
NM_001244008.2(KIF1A):c.2088C>T (p.Asn696=) rs758111969 0.00006
NM_001244008.2(KIF1A):c.2269C>G (p.Gln757Glu) rs369410320 0.00006
NM_001244008.2(KIF1A):c.2444+19T>C rs535696519 0.00006
NM_001244008.2(KIF1A):c.2865C>T (p.Phe955=) rs190534883 0.00006
NM_001244008.2(KIF1A):c.3213A>C (p.Pro1071=) rs201232478 0.00006
NM_001244008.2(KIF1A):c.3584+6C>T rs371009856 0.00006
NM_001244008.2(KIF1A):c.363+9C>T rs368803931 0.00006
NM_001244008.2(KIF1A):c.3674C>G (p.Pro1225Arg) rs377389267 0.00006
NM_001244008.2(KIF1A):c.3898G>A (p.Val1300Met) rs797045652 0.00006
NM_001244008.2(KIF1A):c.4601C>T (p.Ser1534Leu) rs371486580 0.00006
NM_001244008.2(KIF1A):c.4638C>T (p.Asn1546=) rs771217469 0.00006
NM_001244008.2(KIF1A):c.4683G>A (p.Thr1561=) rs370908366 0.00006
NM_001244008.2(KIF1A):c.4734C>T (p.Ser1578=) rs766419471 0.00006
NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys) rs377032453 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001244008.2(KIF1A):c.5092G>A (p.Val1698Met) rs769279843 0.00006
NM_001244008.2(KIF1A):c.5214+14C>T rs777141916 0.00006
NM_001244008.2(KIF1A):c.5241G>A (p.Thr1747=) rs375709030 0.00006
NM_001244008.2(KIF1A):c.5268C>T (p.Ala1756=) rs377628410 0.00006
NM_001244008.2(KIF1A):c.531C>T (p.Tyr177=) rs374244360 0.00006
NM_001244008.2(KIF1A):c.654C>T (p.His218=) rs751380608 0.00006
NM_001244008.2(KIF1A):c.657C>T (p.Ala219=) rs531993959 0.00006
NM_001244008.2(KIF1A):c.882+6C>T rs1290737564 0.00006
NM_001244008.2(KIF1A):c.883-3C>T rs111507743 0.00006
NM_001253852.3(AP4B1):c.1302+11A>G rs772397695 0.00006
NM_001253852.3(AP4B1):c.1591C>T (p.Arg531Trp) rs745939325 0.00006
NM_001253852.3(AP4B1):c.617+17A>G rs201080805 0.00006
NM_001253852.3(AP4B1):c.909C>A (p.Ile303=) rs147184856 0.00006
NM_001271803.2(REEP2):c.165G>C (p.Thr55=) rs149244681 0.00006
NM_001271803.2(REEP2):c.489C>T (p.Asp163=) rs376577382 0.00006
NM_001271803.2(REEP2):c.524G>A (p.Arg175Gln) rs199638172 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_001371279.1(REEP1):c.106-7T>A rs373564876 0.00006
NM_001371279.1(REEP1):c.363C>T (p.Phe121=) rs369674332 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_003119.4(SPG7):c.1236G>A (p.Ala412=) rs201129878 0.00006
NM_003119.4(SPG7):c.1325-6C>T rs371986686 0.00006
NM_003119.4(SPG7):c.1611C>G (p.His537Gln) rs139952725 0.00006
NM_003119.4(SPG7):c.1735G>A (p.Ala579Thr) rs763187694 0.00006
NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr) rs549735647 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003119.4(SPG7):c.331A>G (p.Lys111Glu) rs1239421989 0.00006
NM_003119.4(SPG7):c.516C>T (p.His172=) rs141065708 0.00006
NM_004722.4(AP4M1):c.1050A>G (p.Pro350=) rs139116680 0.00006
NM_004722.4(AP4M1):c.1137+7G>A rs759354272 0.00006
NM_004722.4(AP4M1):c.1357A>G (p.Ile453Val) rs777592786 0.00006
NM_004722.4(AP4M1):c.847C>T (p.Arg283Trp) rs575096086 0.00006
NM_004722.4(AP4M1):c.84T>C (p.Asp28=) rs777732581 0.00006
NM_005154.5(USP8):c.2331T>C (p.Thr777=) rs187703744 0.00006
NM_005154.5(USP8):c.3180C>T (p.Tyr1060=) rs200789993 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_006459.4(ERLIN1):c.588T>C (p.Leu196=) rs142222778 0.00006
NM_006459.4(ERLIN1):c.966A>G (p.Gly322=) rs377025416 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_014846.4(WASHC5):c.1550A>G (p.Asn517Ser) rs368546546 0.00006
NM_014846.4(WASHC5):c.18C>T (p.Ala6=) rs17852424 0.00006
NM_014846.4(WASHC5):c.2151C>T (p.Arg717=) rs766145087 0.00006
NM_014846.4(WASHC5):c.2850+4T>C rs770743674 0.00006
NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr) rs142883794 0.00006
NM_014855.3(AP5Z1):c.1110C>T (p.Leu370=) rs756954352 0.00006
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg) rs777093701 0.00006
NM_014855.3(AP5Z1):c.120C>T (p.Asp40=) rs374592930 0.00006
NM_014855.3(AP5Z1):c.1267G>A (p.Gly423Arg) rs376329631 0.00006
NM_014855.3(AP5Z1):c.1312-10G>A rs770895241 0.00006
NM_014855.3(AP5Z1):c.1334C>T (p.Pro445Leu) rs566333309 0.00006
NM_014855.3(AP5Z1):c.1454+13C>T rs763660409 0.00006
NM_014855.3(AP5Z1):c.1485C>G (p.Leu495=) rs377274807 0.00006
NM_014855.3(AP5Z1):c.1527C>T (p.Phe509=) rs745794388 0.00006
NM_014855.3(AP5Z1):c.1717G>A (p.Gly573Arg) rs746432998 0.00006
NM_014855.3(AP5Z1):c.1766C>T (p.Ser589Leu) rs765366145 0.00006
NM_014855.3(AP5Z1):c.1771T>C (p.Tyr591His) rs1490632344 0.00006
NM_014855.3(AP5Z1):c.1775C>T (p.Pro592Leu) rs781462204 0.00006
NM_014855.3(AP5Z1):c.1806-4G>A rs547245020 0.00006
NM_014855.3(AP5Z1):c.1919C>T (p.Ala640Val) rs562874262 0.00006
NM_014855.3(AP5Z1):c.1978C>T (p.Arg660Trp) rs377514314 0.00006
NM_014855.3(AP5Z1):c.2221G>A (p.Glu741Lys) rs199745141 0.00006
NM_014855.3(AP5Z1):c.351C>T (p.Ser117=) rs374912181 0.00006
NM_014855.3(AP5Z1):c.417G>A (p.Ala139=) rs201203264 0.00006
NM_014855.3(AP5Z1):c.536G>A (p.Arg179Gln) rs569233326 0.00006
NM_014855.3(AP5Z1):c.605C>T (p.Thr202Met) rs756182519 0.00006
NM_014855.3(AP5Z1):c.623C>T (p.Pro208Leu) rs779121737 0.00006
NM_014855.3(AP5Z1):c.628C>T (p.Pro210Ser) rs773542837 0.00006
NM_014855.3(AP5Z1):c.791-4G>A rs368052767 0.00006
NM_014855.3(AP5Z1):c.841T>A (p.Ser281Thr) rs765690642 0.00006
NM_014855.3(AP5Z1):c.928C>T (p.Arg310Ter) rs748724870 0.00006
NM_014946.4(SPAST):c.1197G>A (p.Ser399=) rs1037572037 0.00006
NM_014946.4(SPAST):c.250C>T (p.Arg84Cys) rs776114823 0.00006
NM_014946.4(SPAST):c.64C>G (p.Pro22Ala) rs762209469 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_015915.5(ATL1):c.1078G>A (p.Val360Met) rs373267047 0.00006
NM_015915.5(ATL1):c.1556G>A (p.Ser519Asn) rs751861796 0.00006
NM_015915.5(ATL1):c.1635A>G (p.Pro545=) rs191729308 0.00006
NM_015915.5(ATL1):c.45G>A (p.Ser15=) rs775540772 0.00006
NM_015915.5(ATL1):c.990+4T>A rs372029461 0.00006
NM_016630.7(SPG21):c.64A>G (p.Ile22Val) rs146092558 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_144599.5(NIPA1):c.291C>G (p.Pro97=) rs199818530 0.00006
NM_144599.5(NIPA1):c.479-20G>C rs372189145 0.00006
NM_144599.5(NIPA1):c.537C>T (p.Ile179=) rs547634456 0.00006
NM_144599.5(NIPA1):c.711C>T (p.Leu237=) rs773200808 0.00006
NM_144599.5(NIPA1):c.774G>A (p.Ser258=) rs371993191 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_001160148.2(DDHD1):c.127C>T (p.His43Tyr) rs751145177 0.00005
NM_001160148.2(DDHD1):c.1842+3A>G rs753506242 0.00005
NM_001160148.2(DDHD1):c.280G>C (p.Ala94Pro) rs758060048 0.00005
NM_001160148.2(DDHD1):c.312C>T (p.Ser104=) rs767690171 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_001199753.2(CPT1C):c.2165T>A (p.Ile722Asn) rs553087160 0.00005
NM_001199753.2(CPT1C):c.253G>A (p.Glu85Lys) rs202006349 0.00005
NM_001244008.2(KIF1A):c.1266C>T (p.Arg422=) rs190195227 0.00005
NM_001244008.2(KIF1A):c.1276G>A (p.Val426Met) rs531522772 0.00005
NM_001244008.2(KIF1A):c.1479C>T (p.Gly493=) rs753658374 0.00005
NM_001244008.2(KIF1A):c.1680C>T (p.Ser560=) rs371260268 0.00005
NM_001244008.2(KIF1A):c.1739A>G (p.Lys580Arg) rs374248209 0.00005
NM_001244008.2(KIF1A):c.1844G>A (p.Arg615His) rs764578297 0.00005
NM_001244008.2(KIF1A):c.1848G>A (p.Thr616=) rs112191491 0.00005
NM_001244008.2(KIF1A):c.1949+7C>T rs555750413 0.00005
NM_001244008.2(KIF1A):c.2264A>G (p.Lys755Arg) rs371402945 0.00005
NM_001244008.2(KIF1A):c.2494C>T (p.Pro832Ser) rs757726053 0.00005
NM_001244008.2(KIF1A):c.3010G>A (p.Val1004Ile) rs763669401 0.00005
NM_001244008.2(KIF1A):c.3203-17T>C rs375105783 0.00005
NM_001244008.2(KIF1A):c.3286C>T (p.Arg1096Cys) rs745556410 0.00005
NM_001244008.2(KIF1A):c.3405C>T (p.Ser1135=) rs374858877 0.00005
NM_001244008.2(KIF1A):c.3778G>A (p.Gly1260Arg) rs373019389 0.00005
NM_001244008.2(KIF1A):c.3928G>A (p.Asp1310Asn) rs371252476 0.00005
NM_001244008.2(KIF1A):c.3978C>T (p.Ser1326=) rs775591104 0.00005
NM_001244008.2(KIF1A):c.4307C>T (p.Ala1436Val) rs375688061 0.00005
NM_001244008.2(KIF1A):c.4319-13G>A rs372386644 0.00005
NM_001244008.2(KIF1A):c.4465-10C>T rs750461872 0.00005
NM_001244008.2(KIF1A):c.4595C>T (p.Pro1532Leu) rs779578515 0.00005
NM_001244008.2(KIF1A):c.4666-5C>T rs532806732 0.00005
NM_001244008.2(KIF1A):c.5029G>A (p.Val1677Ile) rs757070178 0.00005
NM_001244008.2(KIF1A):c.5063C>T (p.Pro1688Leu) rs549560429 0.00005
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn) rs199574770 0.00005
NM_001244008.2(KIF1A):c.5150G>A (p.Arg1717Gln) rs760970824 0.00005
NM_001244008.2(KIF1A):c.609-8C>T rs775915390 0.00005
NM_001244008.2(KIF1A):c.7G>A (p.Gly3Arg) rs751960710 0.00005
NM_001244008.2(KIF1A):c.959-3C>T rs572537873 0.00005
NM_001253852.3(AP4B1):c.13G>A (p.Gly5Ser) rs370101262 0.00005
NM_001253852.3(AP4B1):c.232C>T (p.Leu78=) rs760117027 0.00005
NM_001253852.3(AP4B1):c.358T>A (p.Tyr120Asn) rs138880168 0.00005
NM_001271803.2(REEP2):c.411C>T (p.Ala137=) rs767756939 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_001371279.1(REEP1):c.33-17G>T rs571249509 0.00005
NM_001371279.1(REEP1):c.537C>T (p.Ser179=) rs201564869 0.00005
NM_001371279.1(REEP1):c.547G>A (p.Gly183Ser) rs768890728 0.00005
NM_001371279.1(REEP1):c.582C>T (p.Ser194=) rs540194528 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_003119.4(SPG7):c.1728G>A (p.Ser576=) rs369686424 0.00005
NM_003119.4(SPG7):c.547G>A (p.Val183Ile) rs373636036 0.00005
NM_003119.4(SPG7):c.618+16G>A rs370158052 0.00005
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile) rs574878636 0.00005
NM_004722.4(AP4M1):c.93G>A (p.Glu31=) rs202143875 0.00005
NM_005154.5(USP8):c.36C>T (p.Tyr12=) rs141886945 0.00005
NM_005154.5(USP8):c.886G>A (p.Val296Ile) rs138148339 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.531-13G>T rs370943521 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_014846.4(WASHC5):c.1866T>C (p.Tyr622=) rs202216835 0.00005
NM_014846.4(WASHC5):c.2013C>T (p.Tyr671=) rs769262318 0.00005
NM_014846.4(WASHC5):c.2575C>T (p.Arg859Cys) rs202015963 0.00005
NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=) rs558636596 0.00005
NM_014855.3(AP5Z1):c.1707+8C>T rs374691049 0.00005
NM_014855.3(AP5Z1):c.195C>T (p.Cys65=) rs376335137 0.00005
NM_014855.3(AP5Z1):c.1974C>T (p.Tyr658=) rs375030531 0.00005
NM_014855.3(AP5Z1):c.318G>A (p.Thr106=) rs769266009 0.00005
NM_014855.3(AP5Z1):c.366+9G>A rs374673755 0.00005
NM_014855.3(AP5Z1):c.535C>T (p.Arg179Trp) rs1040399898 0.00005
NM_014946.4(SPAST):c.30G>A (p.Lys10=) rs768928614 0.00005
NM_014946.4(SPAST):c.415+17G>T rs748969302 0.00005
NM_014946.4(SPAST):c.832G>A (p.Val278Met) rs369908571 0.00005
NM_014946.4(SPAST):c.942G>A (p.Leu314=) rs776121105 0.00005
NM_014946.4(SPAST):c.965G>A (p.Ser322Asn) rs200329686 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_015915.5(ATL1):c.1120-15C>T rs771568686 0.00005
NM_016630.7(SPG21):c.104A>G (p.Tyr35Cys) rs200124791 0.00005
NM_016630.7(SPG21):c.687G>A (p.Ala229=) rs762934056 0.00005
NM_016630.7(SPG21):c.862A>G (p.Met288Val) rs371753104 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_144599.5(NIPA1):c.8C>T (p.Thr3Ile) rs1361753522 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_000533.5(PLP1):c.246T>C (p.Tyr82=) rs982694851 0.00004
NM_000533.5(PLP1):c.799G>A (p.Val267Ile) rs137966879 0.00004
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_001160148.2(DDHD1):c.1012+613A>G rs771542419 0.00004
NM_001160148.2(DDHD1):c.182G>C (p.Gly61Ala) rs548480563 0.00004
NM_001160148.2(DDHD1):c.2276G>A (p.Gly759Glu) rs763441792 0.00004
NM_001160148.2(DDHD1):c.266A>G (p.Tyr89Cys) rs771632283 0.00004
NM_001160148.2(DDHD1):c.26C>T (p.Pro9Leu) rs1257301534 0.00004
NM_001160148.2(DDHD1):c.322_327dup (p.Ser108_Gly109dup) rs747912386 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_001199753.2(CPT1C):c.1293G>A (p.Ala431=) rs150328622 0.00004
NM_001199753.2(CPT1C):c.1295C>T (p.Ser432Leu) rs1291529814 0.00004
NM_001199753.2(CPT1C):c.1450-8G>A rs374640833 0.00004
NM_001199753.2(CPT1C):c.1801A>G (p.Thr601Ala) rs774134053 0.00004
NM_001199753.2(CPT1C):c.1891C>T (p.Arg631Cys) rs539827461 0.00004
NM_001199753.2(CPT1C):c.1954C>T (p.Arg652Cys) rs200127061 0.00004
NM_001199753.2(CPT1C):c.525C>T (p.Pro175=) rs748021956 0.00004
NM_001244008.2(KIF1A):c.1080C>T (p.Ile360=) rs563701542 0.00004
NM_001244008.2(KIF1A):c.1311G>A (p.Pro437=) rs542467515 0.00004
NM_001244008.2(KIF1A):c.1651G>A (p.Val551Ile) rs373891682 0.00004
NM_001244008.2(KIF1A):c.1684+17G>A rs574718771 0.00004
NM_001244008.2(KIF1A):c.1725C>T (p.Tyr575=) rs772063378 0.00004
NM_001244008.2(KIF1A):c.1768+18G>A rs574613321 0.00004
NM_001244008.2(KIF1A):c.184-14T>C rs753798501 0.00004
NM_001244008.2(KIF1A):c.1862C>T (p.Thr621Met) rs760338913 0.00004
NM_001244008.2(KIF1A):c.1949+6G>A rs769945403 0.00004
NM_001244008.2(KIF1A):c.1953C>T (p.Leu651=) rs913726558 0.00004
NM_001244008.2(KIF1A):c.2116+12C>T rs192836330 0.00004
NM_001244008.2(KIF1A):c.2147C>T (p.Ala716Val) rs555749038 0.00004
NM_001244008.2(KIF1A):c.2187G>A (p.Thr729=) rs371859121 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001244008.2(KIF1A):c.2444+17G>A rs749470460 0.00004
NM_001244008.2(KIF1A):c.2482G>A (p.Ala828Thr) rs780483327 0.00004
NM_001244008.2(KIF1A):c.27G>A (p.Ala9=) rs753090169 0.00004
NM_001244008.2(KIF1A):c.282C>T (p.Phe94=) rs761915393 0.00004
NM_001244008.2(KIF1A):c.2859-19C>T rs773475043 0.00004
NM_001244008.2(KIF1A):c.2961C>T (p.Ala987=) rs778600504 0.00004
NM_001244008.2(KIF1A):c.2977+5G>A rs200583714 0.00004
NM_001244008.2(KIF1A):c.3063+18G>A rs760131986 0.00004
NM_001244008.2(KIF1A):c.3254A>G (p.Asp1085Gly) rs550429072 0.00004
NM_001244008.2(KIF1A):c.3354C>T (p.Ala1118=) rs374009739 0.00004
NM_001244008.2(KIF1A):c.3487T>A (p.Ser1163Thr) rs527346259 0.00004
NM_001244008.2(KIF1A):c.3525C>T (p.Phe1175=) rs760166545 0.00004
NM_001244008.2(KIF1A):c.3576C>T (p.Asp1192=) rs773965535 0.00004
NM_001244008.2(KIF1A):c.3584+17G>C rs533159208 0.00004
NM_001244008.2(KIF1A):c.3602G>A (p.Arg1201His) rs765118465 0.00004
NM_001244008.2(KIF1A):c.3640+16G>A rs918871481 0.00004
NM_001244008.2(KIF1A):c.3693C>T (p.His1231=) rs375829173 0.00004
NM_001244008.2(KIF1A):c.369C>T (p.Cys123=) rs757286820 0.00004
NM_001244008.2(KIF1A):c.3702C>T (p.Tyr1234=) rs774242532 0.00004
NM_001244008.2(KIF1A):c.3741C>T (p.Ala1247=) rs375646700 0.00004
NM_001244008.2(KIF1A):c.385C>T (p.Arg129Trp) rs868067075 0.00004
NM_001244008.2(KIF1A):c.3930C>T (p.Asp1310=) rs368865450 0.00004
NM_001244008.2(KIF1A):c.3942C>T (p.Ile1314=) rs201423643 0.00004
NM_001244008.2(KIF1A):c.4006C>T (p.Arg1336Trp) rs367883171 0.00004
NM_001244008.2(KIF1A):c.4007+12A>G rs745416101 0.00004
NM_001244008.2(KIF1A):c.4032G>A (p.Ala1344=) rs371203997 0.00004
NM_001244008.2(KIF1A):c.429+12C>T rs369474529 0.00004
NM_001244008.2(KIF1A):c.4416C>T (p.Leu1472=) rs774142624 0.00004
NM_001244008.2(KIF1A):c.4465-16T>C rs1210263831 0.00004
NM_001244008.2(KIF1A):c.4520G>A (p.Arg1507Gln) rs750045020 0.00004
NM_001244008.2(KIF1A):c.4613G>A (p.Arg1538His) rs371195054 0.00004
NM_001244008.2(KIF1A):c.4626G>A (p.Leu1542=) rs759679465 0.00004
NM_001244008.2(KIF1A):c.4659C>T (p.Ala1553=) rs1269754231 0.00004
NM_001244008.2(KIF1A):c.4708C>T (p.His1570Tyr) rs528171871 0.00004
NM_001244008.2(KIF1A):c.4744-4G>A rs771679601 0.00004
NM_001244008.2(KIF1A):c.4846C>T (p.Arg1616Trp) rs368124753 0.00004
NM_001244008.2(KIF1A):c.4975G>A (p.Glu1659Lys) rs764970503 0.00004
NM_001244008.2(KIF1A):c.4999G>A (p.Asp1667Asn) rs754893576 0.00004
NM_001244008.2(KIF1A):c.5056C>T (p.Leu1686=) rs1015341506 0.00004
NM_001244008.2(KIF1A):c.5118C>T (p.Tyr1706=) rs746765984 0.00004
NM_001244008.2(KIF1A):c.5141C>A (p.Thr1714Asn) rs755084115 0.00004
NM_001244008.2(KIF1A):c.5142C>T (p.Thr1714=) rs371810115 0.00004
NM_001244008.2(KIF1A):c.5269G>A (p.Ala1757Thr) rs773017134 0.00004
NM_001244008.2(KIF1A):c.5322C>T (p.Ala1774=) rs745898229 0.00004
NM_001244008.2(KIF1A):c.5333+8C>T rs377084915 0.00004
NM_001244008.2(KIF1A):c.612C>T (p.Thr204=) rs779712561 0.00004
NM_001244008.2(KIF1A):c.715G>A (p.Glu239Lys) rs1231775359 0.00004
NM_001244008.2(KIF1A):c.756C>T (p.Ser252=) rs555641774 0.00004
NM_001244008.2(KIF1A):c.789G>A (p.Thr263=) rs368610026 0.00004
NM_001244008.2(KIF1A):c.850G>A (p.Ala284Thr) rs756136593 0.00004
NM_001253852.3(AP4B1):c.1071G>A (p.Thr357=) rs373289645 0.00004
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter) rs374894037 0.00004
NM_001253852.3(AP4B1):c.1178G>A (p.Arg393Gln) rs753638648 0.00004
NM_001253852.3(AP4B1):c.1303-11T>C rs368931895 0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094 0.00004
NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys) rs200276550 0.00004
NM_001253852.3(AP4B1):c.1559G>A (p.Arg520His) rs763842373 0.00004
NM_001253852.3(AP4B1):c.172G>C (p.Ala58Pro) rs754770476 0.00004
NM_001253852.3(AP4B1):c.1859T>C (p.Leu620Pro) rs569988158 0.00004
NM_001253852.3(AP4B1):c.1870C>T (p.Arg624Cys) rs368828060 0.00004
NM_001253852.3(AP4B1):c.2151G>A (p.Thr717=) rs145170032 0.00004
NM_001253852.3(AP4B1):c.247G>C (p.Ala83Pro) rs149478319 0.00004
NM_001253852.3(AP4B1):c.267G>A (p.Thr89=) rs779754710 0.00004
NM_001253852.3(AP4B1):c.470-20A>G rs577971063 0.00004
NM_001253852.3(AP4B1):c.682C>T (p.Arg228Cys) rs371514044 0.00004
NM_001253852.3(AP4B1):c.891T>C (p.Leu297=) rs377589103 0.00004
NM_001271803.2(REEP2):c.130G>A (p.Val44Ile) rs772821081 0.00004
NM_001271803.2(REEP2):c.183-20G>A rs754268226 0.00004
NM_001271803.2(REEP2):c.492A>G (p.Ala164=) rs773378320 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_001371279.1(REEP1):c.144C>T (p.Phe48=) rs753785265 0.00004
NM_001371279.1(REEP1):c.270G>A (p.Lys90=) rs141929755 0.00004
NM_001371279.1(REEP1):c.32+19C>G rs536482080 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_003119.4(SPG7):c.1033G>A (p.Ala345Thr) rs368373840 0.00004
NM_003119.4(SPG7):c.1172G>A (p.Arg391Gln) rs778409451 0.00004
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp) rs748024868 0.00004
NM_003119.4(SPG7):c.1266C>T (p.Ser422=) rs767857665 0.00004
NM_003119.4(SPG7):c.1422C>T (p.His474=) rs201482100 0.00004
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) rs562890289 0.00004
NM_003119.4(SPG7):c.1553-20G>A rs753649905 0.00004
NM_003119.4(SPG7):c.1601G>A (p.Arg534Gln) rs757160836 0.00004
NM_003119.4(SPG7):c.1654G>A (p.Val552Ile) rs750306995 0.00004
NM_003119.4(SPG7):c.1663+14G>A rs368500645 0.00004
NM_003119.4(SPG7):c.1752G>C (p.Met584Ile) rs753337774 0.00004
NM_003119.4(SPG7):c.1807G>A (p.Ala603Thr) rs370852816 0.00004
NM_003119.4(SPG7):c.1812G>A (p.Leu604=) rs114474424 0.00004
NM_003119.4(SPG7):c.1830C>T (p.Leu610=) rs746099594 0.00004
NM_003119.4(SPG7):c.184-4T>C rs533778042 0.00004
NM_003119.4(SPG7):c.1936+15C>T rs370954971 0.00004
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00004
NM_003119.4(SPG7):c.1966C>T (p.Arg656Cys) rs536084933 0.00004
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg) rs369503365 0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698 0.00004
NM_003119.4(SPG7):c.2298C>G (p.Ala766=) rs61756187 0.00004
NM_003119.4(SPG7):c.566G>A (p.Ser189Asn) rs762049799 0.00004
NM_003119.4(SPG7):c.578A>G (p.Glu193Gly) rs114191002 0.00004
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr) rs114255772 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_003119.4(SPG7):c.988-3C>T rs533584901 0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009 0.00004
NM_004722.4(AP4M1):c.1060G>C (p.Ala354Pro) rs201015648 0.00004
NM_004722.4(AP4M1):c.163C>T (p.His55Tyr) rs578114705 0.00004
NM_004722.4(AP4M1):c.289C>T (p.Leu97=) rs376025594 0.00004
NM_004722.4(AP4M1):c.496C>T (p.Pro166Ser) rs201290190 0.00004
NM_004722.4(AP4M1):c.679C>T (p.Arg227Cys) rs369201294 0.00004
NM_004722.4(AP4M1):c.786C>T (p.Asp262=) rs750687666 0.00004
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter) rs369459721 0.00004
NM_004722.4(AP4M1):c.92A>T (p.Glu31Val) rs140286559 0.00004
NM_004722.4(AP4M1):c.981C>T (p.Ala327=) rs563402705 0.00004
NM_005154.5(USP8):c.2246A>G (p.Tyr749Cys) rs898810598 0.00004
NM_005154.5(USP8):c.2287C>T (p.Arg763Trp) rs78143971 0.00004
NM_005154.5(USP8):c.2292C>A (p.Asn764Lys) rs74840283 0.00004
NM_005154.5(USP8):c.2391C>T (p.Asn797=) rs199814360 0.00004
NM_005154.5(USP8):c.2972G>A (p.Arg991Gln) rs755050919 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_006459.4(ERLIN1):c.195+11C>G rs769811237 0.00004
NM_006459.4(ERLIN1):c.315C>T (p.Ile105=) rs373926474 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_014846.4(WASHC5):c.1576G>A (p.Asp526Asn) rs766834356 0.00004
NM_014846.4(WASHC5):c.1830C>T (p.Ser610=) rs190138661 0.00004
NM_014846.4(WASHC5):c.2076G>A (p.Thr692=) rs746121315 0.00004
NM_014846.4(WASHC5):c.2238G>A (p.Ala746=) rs376307168 0.00004
NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln) rs749703625 0.00004
NM_014846.4(WASHC5):c.2533A>G (p.Thr845Ala) rs553869211 0.00004
NM_014846.4(WASHC5):c.2716C>G (p.Gln906Glu) rs757250722 0.00004
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser) rs367744328 0.00004
NM_014846.4(WASHC5):c.3103C>T (p.Arg1035Cys) rs758843087 0.00004
NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=) rs200733182 0.00004
NM_014846.4(WASHC5):c.439G>A (p.Gly147Arg) rs979115163 0.00004
NM_014846.4(WASHC5):c.612A>G (p.Pro204=) rs376240904 0.00004
NM_014846.4(WASHC5):c.875T>C (p.Ile292Thr) rs1218811554 0.00004
NM_014855.3(AP5Z1):c.1009C>T (p.Arg337Trp) rs367981328 0.00004
NM_014855.3(AP5Z1):c.1033C>T (p.Arg345Ter) rs762066700 0.00004
NM_014855.3(AP5Z1):c.1254C>G (p.Leu418=) rs763868444 0.00004
NM_014855.3(AP5Z1):c.127G>A (p.Asp43Asn) rs370859268 0.00004
NM_014855.3(AP5Z1):c.1430C>T (p.Thr477Met) rs375742671 0.00004
NM_014855.3(AP5Z1):c.1437G>T (p.Val479=) rs1038245729 0.00004
NM_014855.3(AP5Z1):c.1464G>A (p.Pro488=) rs376913055 0.00004
NM_014855.3(AP5Z1):c.1536G>A (p.Pro512=) rs757364334 0.00004
NM_014855.3(AP5Z1):c.1788C>T (p.Tyr596=) rs768113900 0.00004
NM_014855.3(AP5Z1):c.1789G>A (p.Ala597Thr) rs372555306 0.00004
NM_014855.3(AP5Z1):c.180-9G>A rs529887558 0.00004
NM_014855.3(AP5Z1):c.1838C>T (p.Thr613Met) rs766057998 0.00004
NM_014855.3(AP5Z1):c.1839G>A (p.Thr613=) rs964017328 0.00004
NM_014855.3(AP5Z1):c.1951G>A (p.Gly651Ser) rs772049256 0.00004
NM_014855.3(AP5Z1):c.1989C>T (p.Thr663=) rs547171686 0.00004
NM_014855.3(AP5Z1):c.2054G>A (p.Arg685His) rs371817388 0.00004
NM_014855.3(AP5Z1):c.210G>A (p.Gln70=) rs767417376 0.00004
NM_014855.3(AP5Z1):c.2148C>A (p.Ile716=) rs578236834 0.00004
NM_014855.3(AP5Z1):c.2197C>G (p.Pro733Ala) rs764991282 0.00004
NM_014855.3(AP5Z1):c.2306C>G (p.Thr769Arg) rs757790495 0.00004
NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln) rs750211507 0.00004
NM_014855.3(AP5Z1):c.355C>G (p.Leu119Val) rs751601075 0.00004
NM_014855.3(AP5Z1):c.540G>A (p.Leu180=) rs768017182 0.00004
NM_014855.3(AP5Z1):c.543C>T (p.Val181=) rs1050248739 0.00004
NM_014855.3(AP5Z1):c.624G>A (p.Pro208=) rs772392202 0.00004
NM_014855.3(AP5Z1):c.656C>G (p.Ala219Gly) rs767507147 0.00004
NM_014855.3(AP5Z1):c.660A>G (p.Thr220=) rs756140557 0.00004
NM_014855.3(AP5Z1):c.854G>A (p.Arg285His) rs374794960 0.00004
NM_014855.3(AP5Z1):c.891C>T (p.Ala297=) rs763250825 0.00004
NM_014855.3(AP5Z1):c.894C>T (p.Phe298=) rs777233282 0.00004
NM_014855.3(AP5Z1):c.985G>A (p.Val329Met) rs764235114 0.00004
NM_014946.4(SPAST):c.1173+9T>C rs775558266 0.00004
NM_014946.4(SPAST):c.1785C>T (p.Ser595=) rs145206063 0.00004
NM_014946.4(SPAST):c.1808C>T (p.Ala603Val) rs368801051 0.00004
NM_014946.4(SPAST):c.441A>G (p.Glu147=) rs375027118 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_015915.5(ATL1):c.1355T>C (p.Phe452Ser) rs759126910 0.00004
NM_015915.5(ATL1):c.1452C>T (p.Thr484=) rs752761440 0.00004
NM_015915.5(ATL1):c.176C>T (p.Ser59Leu) rs1278783412 0.00004
NM_015915.5(ATL1):c.200T>C (p.Val67Ala) rs768342546 0.00004
NM_015915.5(ATL1):c.27C>G (p.Asn9Lys) rs752593199 0.00004
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser) rs377736535 0.00004
NM_015915.5(ATL1):c.570C>G (p.Leu190=) rs202173614 0.00004
NM_015915.5(ATL1):c.654C>T (p.Asp218=) rs746330841 0.00004
NM_015915.5(ATL1):c.879C>T (p.Phe293=) rs745748043 0.00004
NM_015915.5(ATL1):c.969G>C (p.Arg323=) rs753145983 0.00004
NM_015915.5(ATL1):c.991-12C>G rs371714758 0.00004
NM_016630.7(SPG21):c.153T>C (p.Pro51=) rs771940904 0.00004
NM_016630.7(SPG21):c.360A>G (p.Glu120=) rs746913301 0.00004
NM_016630.7(SPG21):c.452+2T>C rs755390093 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_144599.5(NIPA1):c.109G>A (p.Val37Met) rs772029587 0.00004
NM_144599.5(NIPA1):c.864G>T (p.Leu288=) rs748735198 0.00004
NM_144599.5(NIPA1):c.90C>G (p.Leu30=) rs776212895 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_001010867.4(IBA57):c.837C>T (p.Leu279=) rs756776278 0.00003
NM_001160148.2(DDHD1):c.1012+647A>C rs746698403 0.00003
NM_001160148.2(DDHD1):c.1529T>C (p.Leu510Pro) rs755632915 0.00003
NM_001160148.2(DDHD1):c.1535G>A (p.Arg512Gln) rs146473667 0.00003
NM_001160148.2(DDHD1):c.1754dup (p.Thr586fs) rs760208786 0.00003
NM_001160148.2(DDHD1):c.1895G>A (p.Arg632His) rs749263468 0.00003
NM_001160148.2(DDHD1):c.2399C>T (p.Thr800Ile) rs769191532 0.00003
NM_001160148.2(DDHD1):c.2654A>G (p.Tyr885Cys) rs141960546 0.00003
NM_001160148.2(DDHD1):c.378C>G (p.Val126=) rs773329550 0.00003
NM_001160148.2(DDHD1):c.438C>G (p.Thr146=) rs748129023 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_001199753.2(CPT1C):c.1112C>T (p.Pro371Leu) rs200075170 0.00003
NM_001199753.2(CPT1C):c.1384G>A (p.Gly462Arg) rs577177807 0.00003
NM_001199753.2(CPT1C):c.1818G>A (p.Thr606=) rs371409075 0.00003
NM_001199753.2(CPT1C):c.2004G>A (p.Ser668=) rs140549893 0.00003
NM_001199753.2(CPT1C):c.2129G>T (p.Gly710Val) rs772819135 0.00003
NM_001244008.2(KIF1A):c.1064G>A (p.Arg355His) rs373042822 0.00003
NM_001244008.2(KIF1A):c.1245G>A (p.Ser415=) rs770282705 0.00003
NM_001244008.2(KIF1A):c.1317C>T (p.Ser439=) rs527590782 0.00003
NM_001244008.2(KIF1A):c.1342-4C>A rs745742289 0.00003
NM_001244008.2(KIF1A):c.1509C>T (p.Leu503=) rs768926122 0.00003
NM_001244008.2(KIF1A):c.1578-5C>T rs779796603 0.00003
NM_001244008.2(KIF1A):c.1597G>A (p.Glu533Lys) rs764182180 0.00003
NM_001244008.2(KIF1A):c.1657C>T (p.Arg553Trp) rs369141291 0.00003
NM_001244008.2(KIF1A):c.1768+12G>A rs1234222108 0.00003
NM_001244008.2(KIF1A):c.1768+19G>A rs1435141768 0.00003
NM_001244008.2(KIF1A):c.183+12C>T rs1238594515 0.00003
NM_001244008.2(KIF1A):c.1836G>A (p.Glu612=) rs879254322 0.00003
NM_001244008.2(KIF1A):c.1949+19C>G rs758914324 0.00003
NM_001244008.2(KIF1A):c.207G>A (p.Ser69=) rs775973976 0.00003
NM_001244008.2(KIF1A):c.2340C>T (p.Ala780=) rs990063618 0.00003
NM_001244008.2(KIF1A):c.2409C>T (p.Asn803=) rs746800505 0.00003
NM_001244008.2(KIF1A):c.2445-11C>G rs759214934 0.00003
NM_001244008.2(KIF1A):c.2582+10T>C rs202002144 0.00003
NM_001244008.2(KIF1A):c.3329C>T (p.Ala1110Val) rs1236829353 0.00003
NM_001244008.2(KIF1A):c.3456C>T (p.His1152=) rs375266480 0.00003
NM_001244008.2(KIF1A):c.3466-12C>T rs745956020 0.00003
NM_001244008.2(KIF1A):c.3555G>A (p.Pro1185=) rs772708805 0.00003
NM_001244008.2(KIF1A):c.3584+11T>C rs376563968 0.00003
NM_001244008.2(KIF1A):c.3600G>A (p.Ser1200=) rs762545111 0.00003
NM_001244008.2(KIF1A):c.3617G>A (p.Arg1206Gln) rs369849214 0.00003
NM_001244008.2(KIF1A):c.3703G>A (p.Asp1235Asn) rs200257048 0.00003
NM_001244008.2(KIF1A):c.3759G>A (p.Pro1253=) rs777751073 0.00003
NM_001244008.2(KIF1A):c.3762C>T (p.Ala1254=) rs758470895 0.00003
NM_001244008.2(KIF1A):c.3887G>A (p.Arg1296His) rs371517661 0.00003
NM_001244008.2(KIF1A):c.4007+8G>A rs374380397 0.00003
NM_001244008.2(KIF1A):c.4122+20G>A rs376365164 0.00003
NM_001244008.2(KIF1A):c.4176C>T (p.Phe1392=) rs754203456 0.00003
NM_001244008.2(KIF1A):c.420C>T (p.Tyr140=) rs1300729090 0.00003
NM_001244008.2(KIF1A):c.4244G>A (p.Arg1415Gln) rs761203966 0.00003
NM_001244008.2(KIF1A):c.4530G>A (p.Pro1510=) rs767349300 0.00003
NM_001244008.2(KIF1A):c.4584C>T (p.Ser1528=) rs747267404 0.00003
NM_001244008.2(KIF1A):c.4599C>G (p.Leu1533=) rs755599142 0.00003
NM_001244008.2(KIF1A):c.4637A>G (p.Asn1546Ser) rs776993663 0.00003
NM_001244008.2(KIF1A):c.4669T>C (p.Leu1557=) rs774851890 0.00003
NM_001244008.2(KIF1A):c.4717G>A (p.Val1573Ile) rs1401684116 0.00003
NM_001244008.2(KIF1A):c.4744-13C>G rs199938682 0.00003
NM_001244008.2(KIF1A):c.4868+12C>T rs779386379 0.00003
NM_001244008.2(KIF1A):c.4977G>T (p.Glu1659Asp) rs992259915 0.00003
NM_001244008.2(KIF1A):c.4984C>T (p.Arg1662Cys) rs372226807 0.00003
NM_001244008.2(KIF1A):c.5250C>T (p.Arg1750=) rs753129112 0.00003
NM_001244008.2(KIF1A):c.5334-4G>A rs758806789 0.00003
NM_001244008.2(KIF1A):c.699G>C (p.Glu233Asp) rs373882732 0.00003
NM_001244008.2(KIF1A):c.6C>T (p.Ala2=) rs371266160 0.00003
NM_001244008.2(KIF1A):c.804G>T (p.Gly268=) rs771502419 0.00003
NM_001244008.2(KIF1A):c.870C>T (p.Ser290=) rs781227878 0.00003
NM_001253852.3(AP4B1):c.1044G>A (p.Val348=) rs763730264 0.00003
NM_001253852.3(AP4B1):c.1082C>T (p.Ala361Val) rs143389123 0.00003
NM_001253852.3(AP4B1):c.114-9G>A rs186195199 0.00003
NM_001253852.3(AP4B1):c.1217G>A (p.Arg406Gln) rs145803736 0.00003
NM_001253852.3(AP4B1):c.1507A>G (p.Ile503Val) rs1230787334 0.00003
NM_001253852.3(AP4B1):c.1643C>T (p.Pro548Leu) rs149723440 0.00003
NM_001253852.3(AP4B1):c.2150C>T (p.Thr717Met) rs199879996 0.00003
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter) rs777248758 0.00003
NM_001253852.3(AP4B1):c.319C>T (p.Arg107Trp) rs74361335 0.00003
NM_001253852.3(AP4B1):c.323G>A (p.Ser108Asn) rs1157647320 0.00003
NM_001253852.3(AP4B1):c.388C>T (p.Arg130Trp) rs550100552 0.00003
NM_001253852.3(AP4B1):c.49C>T (p.Leu17=) rs748774784 0.00003
NM_001271803.2(REEP2):c.479G>A (p.Arg160Gln) rs1312330798 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_001371279.1(REEP1):c.182+20G>A rs367979322 0.00003
NM_001371279.1(REEP1):c.240C>T (p.Tyr80=) rs757562400 0.00003
NM_001371279.1(REEP1):c.304-9C>G rs771485330 0.00003
NM_001371279.1(REEP1):c.345C>T (p.Tyr115=) rs138656911 0.00003
NM_001371279.1(REEP1):c.371G>A (p.Arg124Gln) rs757087677 0.00003
NM_001371279.1(REEP1):c.418-13G>A rs548141046 0.00003
NM_001371279.1(REEP1):c.418-20C>T rs762395492 0.00003
NM_001371279.1(REEP1):c.808C>T (p.Arg270Cys) rs375445585 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.1059G>A (p.Pro353=) rs201926268 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_003119.4(SPG7):c.1151-8C>T rs200402056 0.00003
NM_003119.4(SPG7):c.1305G>T (p.Gln435His) rs559906913 0.00003
NM_003119.4(SPG7):c.144T>G (p.Pro48=) rs1286342932 0.00003
NM_003119.4(SPG7):c.1552+16G>T rs746083152 0.00003
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003119.4(SPG7):c.1553-2A>G rs1229749476 0.00003
NM_003119.4(SPG7):c.1626T>A (p.Thr542=) rs781398870 0.00003
NM_003119.4(SPG7):c.182A>G (p.Gln61Arg) rs1306012072 0.00003
NM_003119.4(SPG7):c.1936+18G>A rs75437341 0.00003
NM_003119.4(SPG7):c.2191G>A (p.Ala731Thr) rs747521455 0.00003
NM_003119.4(SPG7):c.2247G>A (p.Pro749=) rs757358666 0.00003
NM_003119.4(SPG7):c.377-8C>T rs373168400 0.00003
NM_003119.4(SPG7):c.568G>A (p.Asp190Asn) rs765532928 0.00003
NM_003119.4(SPG7):c.619-4C>G rs754935334 0.00003
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648 0.00003
NM_003119.4(SPG7):c.663G>A (p.Lys221=) rs575421836 0.00003
NM_003119.4(SPG7):c.734A>G (p.Tyr245Cys) rs771172268 0.00003
NM_003119.4(SPG7):c.759-6C>T rs568452581 0.00003
NM_003119.4(SPG7):c.878C>T (p.Ala293Val) rs201723702 0.00003
NM_003119.4(SPG7):c.993A>G (p.Pro331=) rs377211352 0.00003
NM_004722.4(AP4M1):c.1294G>A (p.Gly432Ser) rs751435731 0.00003
NM_004722.4(AP4M1):c.12A>G (p.Gln4=) rs568292146 0.00003
NM_004722.4(AP4M1):c.1320dup (p.Arg441fs) rs1437455190 0.00003
NM_004722.4(AP4M1):c.136C>G (p.Pro46Ala) rs757747386 0.00003
NM_004722.4(AP4M1):c.351+9C>G rs745857202 0.00003
NM_004722.4(AP4M1):c.453C>T (p.Ser151=) rs1388187930 0.00003
NM_004722.4(AP4M1):c.607-12C>T rs1375819668 0.00003
NM_004722.4(AP4M1):c.637G>C (p.Glu213Gln) rs373833370 0.00003
NM_004722.4(AP4M1):c.673+7C>T rs753446678 0.00003
NM_004722.4(AP4M1):c.889C>T (p.Arg297Trp) rs199982051 0.00003
NM_005154.5(USP8):c.2320C>G (p.Pro774Ala) rs371064052 0.00003
NM_005154.5(USP8):c.775C>A (p.Leu259Ile) rs772655890 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_006459.4(ERLIN1):c.1037G>A (p.Ser346Asn) rs369725736 0.00003
NM_006459.4(ERLIN1):c.430+16C>G rs1240077501 0.00003
NM_006459.4(ERLIN1):c.741C>T (p.Ile247=) rs543960752 0.00003
NM_006459.4(ERLIN1):c.773C>T (p.Ala258Val) rs763392279 0.00003
NM_006459.4(ERLIN1):c.856A>C (p.Lys286Gln) rs774243081 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.3234C>T (p.Tyr1078=) rs771822956 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_014846.4(WASHC5):c.1094G>C (p.Cys365Ser) rs756457820 0.00003
NM_014846.4(WASHC5):c.1173C>A (p.Arg391=) rs1344658074 0.00003
NM_014846.4(WASHC5):c.1642A>G (p.Met548Val) rs138176168 0.00003
NM_014846.4(WASHC5):c.1779C>T (p.Leu593=) rs147434450 0.00003
NM_014846.4(WASHC5):c.2426C>G (p.Pro809Arg) rs747787888 0.00003
NM_014846.4(WASHC5):c.3201G>A (p.Pro1067=) rs754759068 0.00003
NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln) rs762522662 0.00003
NM_014846.4(WASHC5):c.3282G>A (p.Gln1094=) rs749478956 0.00003
NM_014846.4(WASHC5):c.777C>T (p.Tyr259=) rs781517421 0.00003
NM_014855.3(AP5Z1):c.1190C>T (p.Pro397Leu) rs759329689 0.00003
NM_014855.3(AP5Z1):c.1288T>G (p.Leu430Val) rs769512279 0.00003
NM_014855.3(AP5Z1):c.1365G>A (p.Pro455=) rs1274908825 0.00003
NM_014855.3(AP5Z1):c.1407G>A (p.Ala469=) rs757042274 0.00003
NM_014855.3(AP5Z1):c.1455-12C>T rs1038026978 0.00003
NM_014855.3(AP5Z1):c.1642C>T (p.Arg548Cys) rs777692803 0.00003
NM_014855.3(AP5Z1):c.1645G>A (p.Val549Met) rs536448969 0.00003
NM_014855.3(AP5Z1):c.164C>T (p.Thr55Met) rs182694738 0.00003
NM_014855.3(AP5Z1):c.172A>G (p.Ser58Gly) rs756631068 0.00003
NM_014855.3(AP5Z1):c.176G>A (p.Arg59Gln) rs200423282 0.00003
NM_014855.3(AP5Z1):c.2194A>C (p.Ser732Arg) rs201934980 0.00003
NM_014855.3(AP5Z1):c.219C>T (p.Leu73=) rs560439547 0.00003
NM_014855.3(AP5Z1):c.328C>T (p.Arg110Trp) rs761446953 0.00003
NM_014855.3(AP5Z1):c.352G>A (p.Val118Ile) rs765261590 0.00003
NM_014855.3(AP5Z1):c.385G>T (p.Val129Phe) rs369230277 0.00003
NM_014855.3(AP5Z1):c.497G>A (p.Gly166Asp) rs374914983 0.00003
NM_014855.3(AP5Z1):c.511+6C>T rs770095188 0.00003
NM_014855.3(AP5Z1):c.556T>C (p.Tyr186His) rs1000589136 0.00003
NM_014855.3(AP5Z1):c.672G>A (p.Thr224=) rs369755844 0.00003
NM_014855.3(AP5Z1):c.766G>A (p.Glu256Lys) rs1254332461 0.00003
NM_014855.3(AP5Z1):c.790+6C>T rs776469236 0.00003
NM_014855.3(AP5Z1):c.835G>A (p.Ala279Thr) rs542054269 0.00003
NM_014855.3(AP5Z1):c.880C>T (p.Arg294Trp) rs1196396832 0.00003
NM_014855.3(AP5Z1):c.948G>C (p.Gly316=) rs769272823 0.00003
NM_014855.3(AP5Z1):c.984C>T (p.Ala328=) rs763042987 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_015915.5(ATL1):c.1274T>C (p.Ile425Thr) rs753618344 0.00003
NM_015915.5(ATL1):c.1542G>A (p.Leu514=) rs765171869 0.00003
NM_015915.5(ATL1):c.163C>T (p.Arg55Trp) rs149901427 0.00003
NM_015915.5(ATL1):c.164G>A (p.Arg55Gln) rs564832738 0.00003
NM_015915.5(ATL1):c.990+11C>T rs750229341 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.3235+10C>T rs567315420 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_144599.5(NIPA1):c.242T>C (p.Ile81Thr) rs750364669 0.00003
NM_144599.5(NIPA1):c.759G>A (p.Glu253=) rs781769053 0.00003
NM_152415.3(VPS37A):c.969+6A>G rs757678084 0.00003
NM_000533.5(PLP1):c.191+17C>T rs368688220 0.00002
NM_000533.5(PLP1):c.202T>C (p.Phe68Leu) rs1483853759 0.00002
NM_000533.5(PLP1):c.340A>G (p.Ser114Gly) rs1317908306 0.00002
NM_000533.5(PLP1):c.666C>T (p.Ser222=) rs773350786 0.00002
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_001160148.2(DDHD1):c.14G>C (p.Gly5Ala) rs1184854729 0.00002
NM_001160148.2(DDHD1):c.1890G>A (p.Ala630=) rs546774166 0.00002
NM_001160148.2(DDHD1):c.19G>A (p.Gly7Arg) rs1052951644 0.00002
NM_001160148.2(DDHD1):c.2128A>G (p.Thr710Ala) rs778314127 0.00002
NM_001160148.2(DDHD1):c.2386G>A (p.Val796Ile) rs184982008 0.00002
NM_001160148.2(DDHD1):c.381G>T (p.Pro127=) rs776947891 0.00002
NM_001160148.2(DDHD1):c.48C>G (p.Gly16=) rs907736393 0.00002
NM_001160148.2(DDHD1):c.729G>A (p.Gly243=) rs113642168 0.00002
NM_001160148.2(DDHD1):c.836A>G (p.Asn279Ser) rs151013237 0.00002
NM_001160148.2(DDHD1):c.837C>T (p.Asn279=) rs758999007 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_001199753.2(CPT1C):c.157G>A (p.Gly53Ser) rs374236576 0.00002
NM_001199753.2(CPT1C):c.2322G>C (p.Gly774=) rs572300945 0.00002
NM_001199753.2(CPT1C):c.294C>T (p.His98=) rs766479674 0.00002
NM_001199753.2(CPT1C):c.899G>A (p.Arg300His) rs753309074 0.00002
NM_001244008.2(KIF1A):c.1110C>T (p.Arg370=) rs369641508 0.00002
NM_001244008.2(KIF1A):c.1152C>T (p.Tyr384=) rs776874494 0.00002
NM_001244008.2(KIF1A):c.1167C>T (p.Gly389=) rs575222271 0.00002
NM_001244008.2(KIF1A):c.1208-6C>T rs766308686 0.00002
NM_001244008.2(KIF1A):c.1264C>T (p.Arg422Cys) rs374011613 0.00002
NM_001244008.2(KIF1A):c.1265G>A (p.Arg422His) rs771678168 0.00002
NM_001244008.2(KIF1A):c.1269G>A (p.Ala423=) rs530550994 0.00002
NM_001244008.2(KIF1A):c.1275C>T (p.Ser425=) rs756211604 0.00002
NM_001244008.2(KIF1A):c.1342-3C>T rs776860368 0.00002
NM_001244008.2(KIF1A):c.1363G>C (p.Glu455Gln) rs777894370 0.00002
NM_001244008.2(KIF1A):c.1394G>A (p.Arg465Gln) rs779186742 0.00002
NM_001244008.2(KIF1A):c.1422G>A (p.Arg474=) rs763602734 0.00002
NM_001244008.2(KIF1A):c.1521C>T (p.Asn507=) rs533472375 0.00002
NM_001244008.2(KIF1A):c.156T>C (p.Phe52=) rs772512390 0.00002
NM_001244008.2(KIF1A):c.1577+7G>A rs781749303 0.00002
NM_001244008.2(KIF1A):c.1769-9G>C rs756408004 0.00002
NM_001244008.2(KIF1A):c.183+20C>T rs752475137 0.00002
NM_001244008.2(KIF1A):c.1923C>T (p.Ile641=) rs371188993 0.00002
NM_001244008.2(KIF1A):c.1980C>T (p.Arg660=) rs1355197070 0.00002
NM_001244008.2(KIF1A):c.201C>T (p.Tyr67=) rs767617976 0.00002
NM_001244008.2(KIF1A):c.2022+14C>T rs903034517 0.00002
NM_001244008.2(KIF1A):c.2070G>A (p.Arg690=) rs749762798 0.00002
NM_001244008.2(KIF1A):c.2117-8C>T rs756474087 0.00002
NM_001244008.2(KIF1A):c.2292G>A (p.Thr764=) rs773940730 0.00002
NM_001244008.2(KIF1A):c.2344A>G (p.Lys782Glu) rs569071678 0.00002
NM_001244008.2(KIF1A):c.2359C>T (p.Arg787Trp) rs756664454 0.00002
NM_001244008.2(KIF1A):c.2403G>A (p.Gln801=) rs770666285 0.00002
NM_001244008.2(KIF1A):c.2476G>A (p.Asp826Asn) rs748073694 0.00002
NM_001244008.2(KIF1A):c.2481C>T (p.Arg827=) rs371444142 0.00002
NM_001244008.2(KIF1A):c.2491G>A (p.Val831Met) rs746223038 0.00002
NM_001244008.2(KIF1A):c.2508C>T (p.Ile836=) rs567112935 0.00002
NM_001244008.2(KIF1A):c.2562C>G (p.Pro854=) rs375824464 0.00002
NM_001244008.2(KIF1A):c.2893G>A (p.Val965Ile) rs747975784 0.00002
NM_001244008.2(KIF1A):c.2908C>T (p.Arg970Cys) rs864309570 0.00002
NM_001244008.2(KIF1A):c.2934C>T (p.Gly978=) rs751977290 0.00002
NM_001244008.2(KIF1A):c.2978-6C>T rs755569458 0.00002
NM_001244008.2(KIF1A):c.3021G>A (p.Ser1007=) rs769618125 0.00002
NM_001244008.2(KIF1A):c.3073G>A (p.Glu1025Lys) rs1476899818 0.00002
NM_001244008.2(KIF1A):c.3104C>T (p.Ser1035Leu) rs764873243 0.00002
NM_001244008.2(KIF1A):c.3189C>T (p.Asn1063=) rs770244295 0.00002
NM_001244008.2(KIF1A):c.3271G>C (p.Ala1091Pro) rs779093187 0.00002
NM_001244008.2(KIF1A):c.327C>A (p.Gly109=) rs776064107 0.00002
NM_001244008.2(KIF1A):c.3385C>T (p.Arg1129Cys) rs774779281 0.00002
NM_001244008.2(KIF1A):c.3465+14C>T rs750660698 0.00002
NM_001244008.2(KIF1A):c.3465+4C>T rs879064869 0.00002
NM_001244008.2(KIF1A):c.3509G>A (p.Ser1170Asn) rs776451256 0.00002
NM_001244008.2(KIF1A):c.3601C>T (p.Arg1201Cys) rs752464745 0.00002
NM_001244008.2(KIF1A):c.363+4C>T rs770137926 0.00002
NM_001244008.2(KIF1A):c.3721G>A (p.Glu1241Lys) rs770190085 0.00002
NM_001244008.2(KIF1A):c.3800C>A (p.Thr1267Asn) rs762566586 0.00002
NM_001244008.2(KIF1A):c.3810C>T (p.Leu1270=) rs542607961 0.00002
NM_001244008.2(KIF1A):c.3816+20C>T rs376501987 0.00002
NM_001244008.2(KIF1A):c.3816+9C>T rs527731125 0.00002
NM_001244008.2(KIF1A):c.3836C>T (p.Thr1279Met) rs755107272 0.00002
NM_001244008.2(KIF1A):c.3897C>T (p.Val1299=) rs765966897 0.00002
NM_001244008.2(KIF1A):c.3901+9G>A rs141647310 0.00002
NM_001244008.2(KIF1A):c.3902-16G>A rs369159697 0.00002
NM_001244008.2(KIF1A):c.3927C>T (p.Thr1309=) rs745933421 0.00002
NM_001244008.2(KIF1A):c.3943G>A (p.Asp1315Asn) rs749879166 0.00002
NM_001244008.2(KIF1A):c.3979G>A (p.Gly1327Arg) rs879253904 0.00002
NM_001244008.2(KIF1A):c.4007+19G>A rs1283997734 0.00002
NM_001244008.2(KIF1A):c.4007+7C>T rs555842583 0.00002
NM_001244008.2(KIF1A):c.4077C>T (p.Thr1359=) rs377678030 0.00002
NM_001244008.2(KIF1A):c.408C>G (p.Asp136Glu) rs761179236 0.00002
NM_001244008.2(KIF1A):c.4119C>T (p.Ile1373=) rs764237250 0.00002
NM_001244008.2(KIF1A):c.4142C>T (p.Pro1381Leu) rs766841187 0.00002
NM_001244008.2(KIF1A):c.423C>T (p.Ser141=) rs565992344 0.00002
NM_001244008.2(KIF1A):c.4596G>A (p.Pro1532=) rs952512510 0.00002
NM_001244008.2(KIF1A):c.4660G>A (p.Val1554Ile) rs567408550 0.00002
NM_001244008.2(KIF1A):c.4666-7T>C rs772378313 0.00002
NM_001244008.2(KIF1A):c.4682C>T (p.Thr1561Met) rs769101887 0.00002
NM_001244008.2(KIF1A):c.4716C>T (p.His1572=) rs375640417 0.00002
NM_001244008.2(KIF1A):c.4723G>A (p.Val1575Ile) rs779019920 0.00002
NM_001244008.2(KIF1A):c.4779G>A (p.Pro1593=) rs757313706 0.00002
NM_001244008.2(KIF1A):c.4820C>T (p.Ser1607Phe) rs768366163 0.00002
NM_001244008.2(KIF1A):c.482A>T (p.Lys161Met) rs1011045689 0.00002
NM_001244008.2(KIF1A):c.4834C>T (p.Leu1612=) rs772100288 0.00002
NM_001244008.2(KIF1A):c.4938G>A (p.Lys1646=) rs748196598 0.00002
NM_001244008.2(KIF1A):c.5015G>A (p.Arg1672Gln) rs761974755 0.00002
NM_001244008.2(KIF1A):c.5017G>A (p.Val1673Ile) rs774256831 0.00002
NM_001244008.2(KIF1A):c.5022-14C>A rs768163198 0.00002
NM_001244008.2(KIF1A):c.502G>A (p.Val168Met) rs1057519241 0.00002
NM_001244008.2(KIF1A):c.5232G>A (p.Ala1744=) rs750647166 0.00002
NM_001244008.2(KIF1A):c.608+3G>A rs367999658 0.00002
NM_001244008.2(KIF1A):c.658G>A (p.Val220Ile) rs201314877 0.00002
NM_001244008.2(KIF1A):c.713C>T (p.Thr238Met) rs780752268 0.00002
NM_001244008.2(KIF1A):c.721-9C>T rs1383106567 0.00002
NM_001244008.2(KIF1A):c.882+4A>G rs1330207710 0.00002
NM_001244008.2(KIF1A):c.927C>T (p.Ser309=) rs748423559 0.00002
NM_001253852.3(AP4B1):c.1356T>C (p.Asn452=) rs144215222 0.00002
NM_001253852.3(AP4B1):c.1460G>A (p.Arg487Gln) rs375080258 0.00002
NM_001253852.3(AP4B1):c.1489C>T (p.Arg497Cys) rs756404463 0.00002
NM_001253852.3(AP4B1):c.1535G>A (p.Arg512Gln) rs754458814 0.00002
NM_001253852.3(AP4B1):c.159G>A (p.Met53Ile) rs778624334 0.00002
NM_001253852.3(AP4B1):c.1642C>A (p.Pro548Thr) rs866175993 0.00002
NM_001253852.3(AP4B1):c.1679T>G (p.Phe560Cys) rs780654750 0.00002
NM_001253852.3(AP4B1):c.1687C>T (p.Leu563=) rs752469657 0.00002
NM_001253852.3(AP4B1):c.2007C>T (p.Ile669=) rs146869083 0.00002
NM_001253852.3(AP4B1):c.2030G>A (p.Arg677Gln) rs752940030 0.00002
NM_001253852.3(AP4B1):c.567G>A (p.Gln189=) rs933273265 0.00002
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131 0.00002
NM_001253852.3(AP4B1):c.670C>T (p.Arg224Cys) rs138216814 0.00002
NM_001253852.3(AP4B1):c.787G>A (p.Ala263Thr) rs760880631 0.00002
NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter) rs746462207 0.00002
NM_001271803.2(REEP2):c.189C>T (p.Pro63=) rs745735439 0.00002
NM_001271803.2(REEP2):c.477C>T (p.Ile159=) rs1216347336 0.00002
NM_001271803.2(REEP2):c.626C>G (p.Ala209Gly) rs149979144 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_001351169.2(NT5C2):c.336C>T (p.Val112=) rs12253627 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_001371279.1(REEP1):c.156G>A (p.Glu52=) rs750019085 0.00002
NM_001371279.1(REEP1):c.408T>A (p.Ala136=) rs368965566 0.00002
NM_001371279.1(REEP1):c.489C>T (p.Gly163=) rs750875451 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.251G>A (p.Arg84Gln) rs121434582 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_003119.4(SPG7):c.1192C>T (p.Arg398Ter) rs1373388852 0.00002
NM_003119.4(SPG7):c.1201G>A (p.Ala401Thr) rs776587961 0.00002
NM_003119.4(SPG7):c.1242C>G (p.Gly414=) rs776578314 0.00002
NM_003119.4(SPG7):c.1596G>A (p.Ala532=) rs752346853 0.00002
NM_003119.4(SPG7):c.1599G>A (p.Ala533=) rs561746823 0.00002
NM_003119.4(SPG7):c.1699G>A (p.Glu567Lys) rs577389704 0.00002
NM_003119.4(SPG7):c.1775T>G (p.Met592Arg) rs781314016 0.00002
NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp) rs764645740 0.00002
NM_003119.4(SPG7):c.185G>A (p.Ser62Asn) rs143294686 0.00002
NM_003119.4(SPG7):c.1937-2A>G rs568556987 0.00002
NM_003119.4(SPG7):c.201del (p.Leu67_Leu68insTer) rs763413730 0.00002
NM_003119.4(SPG7):c.228C>T (p.Asn76=) rs369989832 0.00002
NM_003119.4(SPG7):c.234G>T (p.Leu78Phe) rs770487062 0.00002
NM_003119.4(SPG7):c.25C>T (p.Arg9Cys) rs1368314619 0.00002
NM_003119.4(SPG7):c.359C>T (p.Ala120Val) rs530877336 0.00002
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn) rs767820132 0.00002
NM_003119.4(SPG7):c.423G>T (p.Arg141=) rs777943597 0.00002
NM_003119.4(SPG7):c.517G>A (p.Glu173Lys) rs577497147 0.00002
NM_003119.4(SPG7):c.619-7C>A rs779835775 0.00002
NM_004722.4(AP4M1):c.1026-20C>G rs371922404 0.00002
NM_004722.4(AP4M1):c.1257C>T (p.Leu419=) rs772168477 0.00002
NM_004722.4(AP4M1):c.1318G>C (p.Val440Leu) rs775699151 0.00002
NM_004722.4(AP4M1):c.1346A>G (p.Tyr449Cys) rs754456635 0.00002
NM_004722.4(AP4M1):c.364G>A (p.Val122Ile) rs572732241 0.00002
NM_004722.4(AP4M1):c.390G>A (p.Leu130=) rs753736268 0.00002
NM_004722.4(AP4M1):c.408G>A (p.Thr136=) rs1267130075 0.00002
NM_004722.4(AP4M1):c.68A>G (p.Asp23Gly) rs767849761 0.00002
NM_004722.4(AP4M1):c.693G>A (p.Thr231=) rs758378130 0.00002
NM_004722.4(AP4M1):c.750C>T (p.Val250=) rs752745814 0.00002
NM_004722.4(AP4M1):c.803G>A (p.Arg268Gln) rs565296810 0.00002
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln) rs531148057 0.00002
NM_005154.5(USP8):c.1084A>G (p.Ile362Val) rs768800460 0.00002
NM_005154.5(USP8):c.2523G>A (p.Gln841=) rs144363577 0.00002
NM_005154.5(USP8):c.254A>C (p.Tyr85Ser) rs1322588568 0.00002
NM_005154.5(USP8):c.335+7A>G rs761711198 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_006459.4(ERLIN1):c.504+13C>T rs1474417603 0.00002
NM_006459.4(ERLIN1):c.688C>T (p.Arg230Trp) rs774701385 0.00002
NM_006459.4(ERLIN1):c.745+10G>C rs1371863956 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_014846.4(WASHC5):c.1210C>T (p.Arg404Trp) rs758878691 0.00002
NM_014846.4(WASHC5):c.1589T>C (p.Phe530Ser) rs184557946 0.00002
NM_014846.4(WASHC5):c.161T>C (p.Ile54Thr) rs199936194 0.00002
NM_014846.4(WASHC5):c.1668C>T (p.Phe556=) rs199725572 0.00002
NM_014846.4(WASHC5):c.1689-4A>G rs777297323 0.00002
NM_014846.4(WASHC5):c.1968G>A (p.Leu656=) rs750122277 0.00002
NM_014846.4(WASHC5):c.2025G>A (p.Lys675=) rs769221945 0.00002
NM_014846.4(WASHC5):c.2380-6T>C rs375887732 0.00002
NM_014846.4(WASHC5):c.3276C>T (p.Thr1092=) rs554772608 0.00002
NM_014846.4(WASHC5):c.3329G>A (p.Cys1110Tyr) rs761053851 0.00002
NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg) rs202184316 0.00002
NM_014846.4(WASHC5):c.417+9T>C rs758034244 0.00002
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys) rs565980279 0.00002
NM_014855.3(AP5Z1):c.1023C>T (p.Ser341=) rs975709752 0.00002
NM_014855.3(AP5Z1):c.1082C>T (p.Pro361Leu) rs772283887 0.00002
NM_014855.3(AP5Z1):c.1083G>A (p.Pro361=) rs773577764 0.00002
NM_014855.3(AP5Z1):c.117G>A (p.Pro39=) rs527642993 0.00002
NM_014855.3(AP5Z1):c.1500C>G (p.Leu500=) rs374604255 0.00002
NM_014855.3(AP5Z1):c.1762G>A (p.Asp588Asn) rs777150652 0.00002
NM_014855.3(AP5Z1):c.2045C>T (p.Thr682Ile) rs1272533081 0.00002
NM_014855.3(AP5Z1):c.2109C>A (p.Thr703=) rs1244202957 0.00002
NM_014855.3(AP5Z1):c.2352C>A (p.Asn784Lys) rs748913228 0.00002
NM_014855.3(AP5Z1):c.2378C>T (p.Thr793Met) rs775668440 0.00002
NM_014855.3(AP5Z1):c.299G>A (p.Ser100Asn) rs547606175 0.00002
NM_014855.3(AP5Z1):c.589G>A (p.Gly197Ser) rs746939195 0.00002
NM_014855.3(AP5Z1):c.602C>T (p.Ser201Phe) rs920304598 0.00002
NM_014855.3(AP5Z1):c.702C>T (p.Asp234=) rs370728528 0.00002
NM_014855.3(AP5Z1):c.821T>G (p.Leu274Arg) rs779893770 0.00002
NM_014855.3(AP5Z1):c.868C>T (p.Arg290Trp) rs768595771 0.00002
NM_014855.3(AP5Z1):c.970-4G>A rs559842146 0.00002
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=) rs1045333933 0.00002
NM_014946.4(SPAST):c.101C>T (p.Pro34Leu) rs771019519 0.00002
NM_014946.4(SPAST):c.1077T>C (p.Ile359=) rs570106557 0.00002
NM_014946.4(SPAST):c.109G>C (p.Gly37Arg) rs771455657 0.00002
NM_014946.4(SPAST):c.1125C>T (p.Ala375=) rs62142114 0.00002
NM_014946.4(SPAST):c.1494-7T>C rs894974418 0.00002
NM_014946.4(SPAST):c.1616+18G>A rs977979111 0.00002
NM_014946.4(SPAST):c.1644C>T (p.Asp548=) rs781455476 0.00002
NM_014946.4(SPAST):c.1742G>A (p.Arg581Gln) rs749484350 0.00002
NM_014946.4(SPAST):c.1813A>G (p.Ile605Val) rs372900676 0.00002
NM_014946.4(SPAST):c.222C>T (p.Leu74=) rs372332499 0.00002
NM_014946.4(SPAST):c.315G>A (p.Pro105=) rs761254257 0.00002
NM_014946.4(SPAST):c.631G>A (p.Val211Ile) rs143003434 0.00002
NM_014946.4(SPAST):c.828T>C (p.Ser276=) rs77525846 0.00002
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu) rs773193617 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_015915.5(ATL1):c.1047+12T>C rs375882898 0.00002
NM_015915.5(ATL1):c.1245G>A (p.Arg415=) rs979353252 0.00002
NM_015915.5(ATL1):c.1275A>G (p.Ile425Met) rs1273371448 0.00002
NM_015915.5(ATL1):c.1458C>T (p.Ile486=) rs200825678 0.00002
NM_015915.5(ATL1):c.1551+11C>G rs894699234 0.00002
NM_015915.5(ATL1):c.1574A>G (p.Tyr525Cys) rs1049367585 0.00002
NM_015915.5(ATL1):c.33G>C (p.Trp11Cys) rs765421231 0.00002
NM_015915.5(ATL1):c.35-20G>T rs1342373492 0.00002
NM_015915.5(ATL1):c.388T>C (p.Phe130Leu) rs769581129 0.00002
NM_015915.5(ATL1):c.44C>T (p.Ser15Leu) rs772206990 0.00002
NM_015915.5(ATL1):c.622C>T (p.Pro208Ser) rs147839037 0.00002
NM_015915.5(ATL1):c.686C>G (p.Ala229Gly) rs1454376300 0.00002
NM_015915.5(ATL1):c.688G>A (p.Asp230Asn) rs768367744 0.00002
NM_015915.5(ATL1):c.701A>G (p.Lys234Arg) rs371579681 0.00002
NM_015915.5(ATL1):c.756C>T (p.Asn252=) rs771031586 0.00002
NM_016630.7(SPG21):c.367C>T (p.His123Tyr) rs1344716790 0.00002
NM_016630.7(SPG21):c.84C>T (p.Asp28=) rs151335372 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_144599.5(NIPA1):c.263C>T (p.Thr88Met) rs755718518 0.00002
NM_144599.5(NIPA1):c.856G>A (p.Val286Met) rs531256830 0.00002
NM_144599.5(NIPA1):c.871T>C (p.Phe291Leu) rs779693743 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_000533.5(PLP1):c.15G>A (p.Glu5=) rs753140839 0.00001
NM_000533.5(PLP1):c.18C>T (p.Cys6=) rs151116667 0.00001
NM_000533.5(PLP1):c.306C>T (p.Gly102=) rs1315109043 0.00001
NM_000533.5(PLP1):c.318C>T (p.Thr106=) rs973903346 0.00001
NM_000533.5(PLP1):c.328G>A (p.Gly110Ser) rs1283059062 0.00001
NM_000533.5(PLP1):c.342C>T (p.Ser114=) rs756334357 0.00001
NM_000533.5(PLP1):c.35T>C (p.Val12Ala) rs1049312344 0.00001
NM_000533.5(PLP1):c.594C>A (p.Gly198=) rs757600628 0.00001
NM_000533.5(PLP1):c.606T>C (p.Ala202=) rs748894669 0.00001
NM_000533.5(PLP1):c.622+14C>T rs188734237 0.00001
NM_000533.5(PLP1):c.622+15G>A rs886038308 0.00001
NM_000533.5(PLP1):c.696+8G>T rs902326390 0.00001
NM_000533.5(PLP1):c.763-3C>T rs774443520 0.00001
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_001160148.2(DDHD1):c.1010A>T (p.Asp337Val) rs139853377 0.00001
NM_001160148.2(DDHD1):c.1012+635G>A rs1887427543 0.00001
NM_001160148.2(DDHD1):c.1013C>T (p.Ala338Val) rs767815843 0.00001
NM_001160148.2(DDHD1):c.1161A>G (p.Arg387=) rs1312004804 0.00001
NM_001160148.2(DDHD1):c.1290-5T>C rs767317061 0.00001
NM_001160148.2(DDHD1):c.1321A>G (p.Arg441Gly) rs766121321 0.00001
NM_001160148.2(DDHD1):c.1323G>A (p.Arg441=) rs377387241 0.00001
NM_001160148.2(DDHD1):c.1334A>G (p.Asn445Ser) rs772863841 0.00001
NM_001160148.2(DDHD1):c.1357C>T (p.Leu453=) rs761376814 0.00001
NM_001160148.2(DDHD1):c.1503+5G>C rs370071581 0.00001
NM_001160148.2(DDHD1):c.1539G>A (p.Leu513=) rs767424223 0.00001
NM_001160148.2(DDHD1):c.1553G>T (p.Cys518Phe) rs1291109043 0.00001
NM_001160148.2(DDHD1):c.1597A>G (p.Ile533Val) rs770043699 0.00001
NM_001160148.2(DDHD1):c.1661G>A (p.Arg554Gln) rs755789866 0.00001
NM_001160148.2(DDHD1):c.1677G>A (p.Leu559=) rs751528984 0.00001
NM_001160148.2(DDHD1):c.1679T>C (p.Leu560Pro) rs1060502166 0.00001
NM_001160148.2(DDHD1):c.1713G>T (p.Trp571Cys) rs1402569521 0.00001
NM_001160148.2(DDHD1):c.1742A>G (p.Asp581Gly) rs746305110 0.00001
NM_001160148.2(DDHD1):c.1763G>A (p.Arg588Gln) rs746508736 0.00001
NM_001160148.2(DDHD1):c.1778T>C (p.Ile593Thr) rs534395173 0.00001
NM_001160148.2(DDHD1):c.1794C>T (p.His598=) rs752148702 0.00001
NM_001160148.2(DDHD1):c.181G>C (p.Gly61Arg) rs568294049 0.00001
NM_001160148.2(DDHD1):c.184G>A (p.Glu62Lys) rs1370611484 0.00001
NM_001160148.2(DDHD1):c.1893G>A (p.Leu631=) rs773742131 0.00001
NM_001160148.2(DDHD1):c.1905C>G (p.Arg635=) rs780940236 0.00001
NM_001160148.2(DDHD1):c.1910G>C (p.Gly637Ala) rs1437541554 0.00001
NM_001160148.2(DDHD1):c.1936T>C (p.Leu646=) rs1883264882 0.00001
NM_001160148.2(DDHD1):c.1992+13A>G rs1241199136 0.00001
NM_001160148.2(DDHD1):c.2160C>T (p.Thr720=) rs377049663 0.00001
NM_001160148.2(DDHD1):c.2358G>A (p.Lys786=) rs759300334 0.00001
NM_001160148.2(DDHD1):c.2437+9A>C rs754826324 0.00001
NM_001160148.2(DDHD1):c.2604T>C (p.Thr868=) rs1339243582 0.00001
NM_001160148.2(DDHD1):c.2649C>T (p.Phe883=) rs374202355 0.00001
NM_001160148.2(DDHD1):c.293C>T (p.Ser98Phe) rs907706877 0.00001
NM_001160148.2(DDHD1):c.300G>T (p.Leu100=) rs764049438 0.00001
NM_001160148.2(DDHD1):c.319G>A (p.Glu107Lys) rs770313412 0.00001
NM_001160148.2(DDHD1):c.424G>A (p.Glu142Lys) rs1451425803 0.00001
NM_001160148.2(DDHD1):c.429G>A (p.Arg143=) rs561174238 0.00001
NM_001160148.2(DDHD1):c.455C>T (p.Ala152Val) rs1274664920 0.00001
NM_001160148.2(DDHD1):c.578C>T (p.Ala193Val) rs1268767392 0.00001
NM_001160148.2(DDHD1):c.5A>G (p.Asn2Ser) rs1244792265 0.00001
NM_001160148.2(DDHD1):c.764A>G (p.Glu255Gly) rs1173445982 0.00001
NM_001160148.2(DDHD1):c.831C>T (p.Tyr277=) rs368725055 0.00001
NM_001160148.2(DDHD1):c.838+15G>A rs762784960 0.00001
NM_001160148.2(DDHD1):c.839-7T>A rs561534404 0.00001
NM_001160148.2(DDHD1):c.863G>A (p.Arg288His) rs904259357 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.186C>G (p.Val62=) rs759997114 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.3302G>A (p.Arg1101His) rs777615874 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_001199753.2(CPT1C):c.1018C>T (p.Arg340Ter) rs780195851 0.00001
NM_001199753.2(CPT1C):c.1027C>T (p.Arg343Cys) rs202048325 0.00001
NM_001199753.2(CPT1C):c.1142C>T (p.Ala381Val) rs1436873820 0.00001
NM_001199753.2(CPT1C):c.1365C>T (p.Thr455=) rs369622356 0.00001
NM_001199753.2(CPT1C):c.1431C>T (p.Ile477=) rs771133911 0.00001
NM_001199753.2(CPT1C):c.1477C>A (p.Leu493Met) rs771223811 0.00001
NM_001199753.2(CPT1C):c.1623C>T (p.Val541=) rs377075105 0.00001
NM_001199753.2(CPT1C):c.1635C>T (p.Val545=) rs371168897 0.00001
NM_001199753.2(CPT1C):c.1962G>A (p.Leu654=) rs771394188 0.00001
NM_001199753.2(CPT1C):c.2019+17A>G rs538359078 0.00001
NM_001199753.2(CPT1C):c.203C>T (p.Ala68Val) rs780566514 0.00001
NM_001199753.2(CPT1C):c.2057_2061del (p.Ile686fs) rs1568547326 0.00001
NM_001199753.2(CPT1C):c.21C>T (p.Ala7=) rs755710053 0.00001
NM_001199753.2(CPT1C):c.2298G>C (p.Gln766His) rs746999197 0.00001
NM_001199753.2(CPT1C):c.33A>T (p.Arg11=) rs1361033516 0.00001
NM_001199753.2(CPT1C):c.463C>T (p.Arg155Cys) rs775732767 0.00001
NM_001199753.2(CPT1C):c.489G>A (p.Met163Ile) rs369825557 0.00001
NM_001199753.2(CPT1C):c.55G>A (p.Ala19Thr) rs1317849272 0.00001
NM_001199753.2(CPT1C):c.740C>T (p.Pro247Leu) rs765359581 0.00001
NM_001199753.2(CPT1C):c.979C>A (p.Leu327Ile) rs773593581 0.00001
NM_001244008.2(KIF1A):c.1005C>T (p.Asp335=) rs1471754317 0.00001
NM_001244008.2(KIF1A):c.1038-13C>G rs1407985726 0.00001
NM_001244008.2(KIF1A):c.1038-14C>T rs1289181876 0.00001
NM_001244008.2(KIF1A):c.1038-17C>T rs1490274711 0.00001
NM_001244008.2(KIF1A):c.1038-19A>G rs1200606832 0.00001
NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp) rs387907259 0.00001
NM_001244008.2(KIF1A):c.1063C>T (p.Arg355Cys) rs1225233710 0.00001
NM_001244008.2(KIF1A):c.107-9C>T rs759466113 0.00001
NM_001244008.2(KIF1A):c.1107C>T (p.Ile369=) rs2052249229 0.00001
NM_001244008.2(KIF1A):c.1119G>A (p.Lys373=) rs751478068 0.00001
NM_001244008.2(KIF1A):c.1130C>T (p.Thr377Ile) rs1183605403 0.00001
NM_001244008.2(KIF1A):c.1138C>T (p.Arg380Trp) rs545501989 0.00001
NM_001244008.2(KIF1A):c.1139G>A (p.Arg380Gln) rs759791775 0.00001
NM_001244008.2(KIF1A):c.1160G>T (p.Gly387Val) rs868321329 0.00001
NM_001244008.2(KIF1A):c.1168G>A (p.Asp390Asn) rs1049441176 0.00001
NM_001244008.2(KIF1A):c.1177G>C (p.Asp393His) rs1469725451 0.00001
NM_001244008.2(KIF1A):c.1180+3G>A rs201966080 0.00001
NM_001244008.2(KIF1A):c.1180+8C>T rs2052235430 0.00001
NM_001244008.2(KIF1A):c.1267G>A (p.Ala423Thr) rs1345536541 0.00001
NM_001244008.2(KIF1A):c.1268C>T (p.Ala423Val) rs549643552 0.00001
NM_001244008.2(KIF1A):c.1270G>A (p.Ala424Thr) rs749112240 0.00001
NM_001244008.2(KIF1A):c.1291G>A (p.Glu431Lys) rs1215532195 0.00001
NM_001244008.2(KIF1A):c.1299C>G (p.Ile433Met) rs753106892 0.00001
NM_001244008.2(KIF1A):c.1307C>T (p.Ala436Val) rs1372206358 0.00001
NM_001244008.2(KIF1A):c.1335A>G (p.Arg445=) rs559288163 0.00001
NM_001244008.2(KIF1A):c.1341+8C>T rs749268264 0.00001
NM_001244008.2(KIF1A):c.1360G>A (p.Ala454Thr) rs1575598898 0.00001
NM_001244008.2(KIF1A):c.1401A>G (p.Thr467=) rs755479485 0.00001
NM_001244008.2(KIF1A):c.1422-4C>T rs1232884429 0.00001
NM_001244008.2(KIF1A):c.1467C>T (p.Gly489=) rs759456451 0.00001
NM_001244008.2(KIF1A):c.1530G>A (p.Pro510=) rs770156236 0.00001
NM_001244008.2(KIF1A):c.1533G>C (p.Leu511=) rs569314062 0.00001
NM_001244008.2(KIF1A):c.1571T>C (p.Ile524Thr) rs1355751702 0.00001
NM_001244008.2(KIF1A):c.1577+17C>A rs927982776 0.00001
NM_001244008.2(KIF1A):c.1578-4G>A rs376897164 0.00001
NM_001244008.2(KIF1A):c.1599G>A (p.Glu533=) rs758558877 0.00001
NM_001244008.2(KIF1A):c.15G>A (p.Ser5=) rs759002821 0.00001
NM_001244008.2(KIF1A):c.1626G>A (p.Gly542=) rs1300873600 0.00001
NM_001244008.2(KIF1A):c.1650C>T (p.Cys550=) rs542025698 0.00001
NM_001244008.2(KIF1A):c.1668C>T (p.Ser556=) rs1197450041 0.00001
NM_001244008.2(KIF1A):c.1670G>T (p.Arg557Met) rs773904723 0.00001
NM_001244008.2(KIF1A):c.1684+12C>T rs1350940887 0.00001
NM_001244008.2(KIF1A):c.1684+8C>T rs769501237 0.00001
NM_001244008.2(KIF1A):c.1726G>A (p.Val576Ile) rs747993082 0.00001
NM_001244008.2(KIF1A):c.174G>A (p.Ser58=) rs369088708 0.00001
NM_001244008.2(KIF1A):c.1762C>T (p.Arg588Cys) rs755058594 0.00001
NM_001244008.2(KIF1A):c.1769-11C>T rs1335285612 0.00001
NM_001244008.2(KIF1A):c.1769-13C>G rs1440639678 0.00001
NM_001244008.2(KIF1A):c.1769-8T>C rs886055836 0.00001
NM_001244008.2(KIF1A):c.1774C>T (p.Arg592Cys) rs1379137279 0.00001
NM_001244008.2(KIF1A):c.1794C>T (p.Ser598=) rs967827529 0.00001
NM_001244008.2(KIF1A):c.1805G>A (p.Arg602Gln) rs1009422974 0.00001
NM_001244008.2(KIF1A):c.183+8G>A rs755604758 0.00001
NM_001244008.2(KIF1A):c.1863G>A (p.Thr621=) rs772785242 0.00001
NM_001244008.2(KIF1A):c.186T>C (p.Pro62=) rs371711641 0.00001
NM_001244008.2(KIF1A):c.1897C>T (p.Arg633Cys) rs1454909533 0.00001
NM_001244008.2(KIF1A):c.1943A>G (p.Glu648Gly) rs749169628 0.00001
NM_001244008.2(KIF1A):c.1946A>C (p.Gln649Pro) rs1356741390 0.00001
NM_001244008.2(KIF1A):c.1949+16C>T rs747394070 0.00001
NM_001244008.2(KIF1A):c.1950-3C>T rs778033896 0.00001
NM_001244008.2(KIF1A):c.1954C>T (p.Gln652Ter) rs748477031 0.00001
NM_001244008.2(KIF1A):c.1962G>T (p.Leu654=) rs779460275 0.00001
NM_001244008.2(KIF1A):c.1979G>A (p.Arg660His) rs749914330 0.00001
NM_001244008.2(KIF1A):c.1989G>A (p.Glu663=) rs1371005890 0.00001
NM_001244008.2(KIF1A):c.198C>A (p.Asn66Lys) rs1336875527 0.00001
NM_001244008.2(KIF1A):c.1993G>T (p.Ala665Ser) rs780686801 0.00001
NM_001244008.2(KIF1A):c.2022+10G>A rs763816679 0.00001
NM_001244008.2(KIF1A):c.2022+17C>T rs762883207 0.00001
NM_001244008.2(KIF1A):c.2023-4G>A rs201122759 0.00001
NM_001244008.2(KIF1A):c.202G>A (p.Ala68Thr) rs761950783 0.00001
NM_001244008.2(KIF1A):c.203C>T (p.Ala68Val) rs550027484 0.00001
NM_001244008.2(KIF1A):c.2049G>A (p.Leu683=) rs373116562 0.00001
NM_001244008.2(KIF1A):c.2072A>G (p.Tyr691Cys) rs531766047 0.00001
NM_001244008.2(KIF1A):c.2099A>G (p.Glu700Gly) rs1295868943 0.00001
NM_001244008.2(KIF1A):c.2100G>A (p.Glu700=) rs374701055 0.00001
NM_001244008.2(KIF1A):c.2117-19G>A rs144984515 0.00001
NM_001244008.2(KIF1A):c.2120A>G (p.Gln707Arg) rs753567219 0.00001
NM_001244008.2(KIF1A):c.2128G>C (p.Glu710Gln) rs755944462 0.00001
NM_001244008.2(KIF1A):c.2138G>A (p.Cys713Tyr) rs763443113 0.00001
NM_001244008.2(KIF1A):c.2148G>A (p.Ala716=) rs746313347 0.00001
NM_001244008.2(KIF1A):c.2151C>T (p.Leu717=) rs772882151 0.00001
NM_001244008.2(KIF1A):c.2161C>T (p.Arg721Trp) rs747643976 0.00001
NM_001244008.2(KIF1A):c.2162G>T (p.Arg721Leu) rs1159860840 0.00001
NM_001244008.2(KIF1A):c.2172G>C (p.Lys724Asn) rs1179435841 0.00001
NM_001244008.2(KIF1A):c.217G>T (p.Val73Leu) rs770463399 0.00001
NM_001244008.2(KIF1A):c.2186C>T (p.Thr729Met) rs1443898180 0.00001
NM_001244008.2(KIF1A):c.2214C>T (p.Asn738=) rs551496176 0.00001
NM_001244008.2(KIF1A):c.2215G>A (p.Ala739Thr) rs1373179079 0.00001
NM_001244008.2(KIF1A):c.2233G>T (p.Ala745Ser) rs1384214619 0.00001
NM_001244008.2(KIF1A):c.2247C>T (p.Ser749=) rs765482475 0.00001
NM_001244008.2(KIF1A):c.2248G>A (p.Val750Met) rs374794257 0.00001
NM_001244008.2(KIF1A):c.2266-10C>T rs1213501281 0.00001
NM_001244008.2(KIF1A):c.2266-6T>G rs765538257 0.00001
NM_001244008.2(KIF1A):c.2266-9C>T rs1333121682 0.00001
NM_001244008.2(KIF1A):c.2311C>T (p.Leu771=) rs1166259252 0.00001
NM_001244008.2(KIF1A):c.231C>T (p.Ile77=) rs530669240 0.00001
NM_001244008.2(KIF1A):c.2320G>A (p.Asp774Asn) rs745722085 0.00001
NM_001244008.2(KIF1A):c.2357C>T (p.Thr786Met) rs766807173 0.00001
NM_001244008.2(KIF1A):c.2358G>A (p.Thr786=) rs1177964009 0.00001
NM_001244008.2(KIF1A):c.2371C>T (p.Arg791Cys) rs768035823 0.00001
NM_001244008.2(KIF1A):c.2377A>G (p.Ile793Val) rs775052573 0.00001
NM_001244008.2(KIF1A):c.2386G>A (p.Val796Met) rs1370744783 0.00001
NM_001244008.2(KIF1A):c.2410G>A (p.Gly804Arg) rs773066933 0.00001
NM_001244008.2(KIF1A):c.2429C>T (p.Thr810Met) rs772046874 0.00001
NM_001244008.2(KIF1A):c.2430G>A (p.Thr810=) rs371805653 0.00001
NM_001244008.2(KIF1A):c.2444+3G>A rs779065199 0.00001
NM_001244008.2(KIF1A):c.2445-10G>A rs565517877 0.00001
NM_001244008.2(KIF1A):c.2445-18C>T rs764676288 0.00001
NM_001244008.2(KIF1A):c.2479C>T (p.Arg827Cys) rs376012799 0.00001
NM_001244008.2(KIF1A):c.2480G>A (p.Arg827His) rs768899178 0.00001
NM_001244008.2(KIF1A):c.2495C>T (p.Pro832Leu) rs752020189 0.00001
NM_001244008.2(KIF1A):c.2523C>T (p.Asn841=) rs542220900 0.00001
NM_001244008.2(KIF1A):c.2527G>A (p.Val843Met) rs551697944 0.00001
NM_001244008.2(KIF1A):c.2532C>T (p.Thr844=) rs370648599 0.00001
NM_001244008.2(KIF1A):c.2536G>A (p.Gly846Arg) rs768702963 0.00001
NM_001244008.2(KIF1A):c.2570G>A (p.Arg857Gln) rs1195594601 0.00001
NM_001244008.2(KIF1A):c.2582+13T>A rs2050115711 0.00001
NM_001244008.2(KIF1A):c.2582+7G>A rs781439626 0.00001
NM_001244008.2(KIF1A):c.261G>A (p.Glu87=) rs756068958 0.00001
NM_001244008.2(KIF1A):c.270C>T (p.Asn90=) rs750320422 0.00001
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs) rs587778791 0.00001
NM_001244008.2(KIF1A):c.2909G>A (p.Arg970His) rs201742042 0.00001
NM_001244008.2(KIF1A):c.2919C>A (p.Ile973=) rs756247806 0.00001
NM_001244008.2(KIF1A):c.2920G>A (p.Val974Ile) rs577997489 0.00001
NM_001244008.2(KIF1A):c.2953C>T (p.Arg985Cys) rs760325615 0.00001
NM_001244008.2(KIF1A):c.2954G>A (p.Arg985His) rs772779524 0.00001
NM_001244008.2(KIF1A):c.2962G>A (p.Val988Ile) rs1355031628 0.00001
NM_001244008.2(KIF1A):c.2976A>G (p.Ser992=) rs2049077964 0.00001
NM_001244008.2(KIF1A):c.2977+18G>A rs755980146 0.00001
NM_001244008.2(KIF1A):c.2977+20C>T rs770943608 0.00001
NM_001244008.2(KIF1A):c.297G>A (p.Thr99=) rs751855235 0.00001
NM_001244008.2(KIF1A):c.3009C>T (p.Gly1003=) rs191727100 0.00001
NM_001244008.2(KIF1A):c.3020C>T (p.Ser1007Leu) rs1553630819 0.00001
NM_001244008.2(KIF1A):c.303C>T (p.Ala101=) rs372396112 0.00001
NM_001244008.2(KIF1A):c.3045T>C (p.Asp1015=) rs757187351 0.00001
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) rs1356639316 0.00001
NM_001244008.2(KIF1A):c.3064-13C>T rs779347174 0.00001
NM_001244008.2(KIF1A):c.3075G>A (p.Glu1025=) rs1234424092 0.00001
NM_001244008.2(KIF1A):c.3090G>A (p.Val1030=) rs1212393813 0.00001
NM_001244008.2(KIF1A):c.3100C>T (p.Arg1034Cys) rs1036143999 0.00001
NM_001244008.2(KIF1A):c.3101G>A (p.Arg1034His) rs375775494 0.00001
NM_001244008.2(KIF1A):c.3105G>A (p.Ser1035=) rs759168453 0.00001
NM_001244008.2(KIF1A):c.3149A>G (p.Gln1050Arg) rs1472781226 0.00001
NM_001244008.2(KIF1A):c.3159C>T (p.Asp1053=) rs761993869 0.00001
NM_001244008.2(KIF1A):c.3195C>A (p.Thr1065=) rs970866128 0.00001
NM_001244008.2(KIF1A):c.3203-10C>T rs747471328 0.00001
NM_001244008.2(KIF1A):c.3203-3C>T rs371669128 0.00001
NM_001244008.2(KIF1A):c.3203-8C>T rs778217414 0.00001
NM_001244008.2(KIF1A):c.3227T>C (p.Leu1076Pro) rs757087817 0.00001
NM_001244008.2(KIF1A):c.3258G>A (p.Gly1086=) rs371982077 0.00001
NM_001244008.2(KIF1A):c.3285C>A (p.Leu1095=) rs1402317462 0.00001
NM_001244008.2(KIF1A):c.3287G>A (p.Arg1096His) rs780970120 0.00001
NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=) rs542427011 0.00001
NM_001244008.2(KIF1A):c.3292G>A (p.Gly1098Ser) rs1041754142 0.00001
NM_001244008.2(KIF1A):c.3296A>G (p.Asn1099Ser) rs1288885072 0.00001
NM_001244008.2(KIF1A):c.3321C>A (p.Val1107=) rs758210408 0.00001
NM_001244008.2(KIF1A):c.333G>C (p.Gln111His) rs2055179473 0.00001
NM_001244008.2(KIF1A):c.3346G>A (p.Glu1116Lys) rs377010898 0.00001
NM_001244008.2(KIF1A):c.3374+13T>C rs762189841 0.00001
NM_001244008.2(KIF1A):c.3375C>T (p.Asn1125=) rs1380599495 0.00001
NM_001244008.2(KIF1A):c.3386G>A (p.Arg1129His) rs769283409 0.00001
NM_001244008.2(KIF1A):c.3390C>T (p.His1130=) rs369038475 0.00001
NM_001244008.2(KIF1A):c.33G>C (p.Arg11=) rs765920658 0.00001
NM_001244008.2(KIF1A):c.3435C>T (p.Gly1145=) rs369811703 0.00001
NM_001244008.2(KIF1A):c.3459C>T (p.Val1153=) rs1220625543 0.00001
NM_001244008.2(KIF1A):c.3465+8C>T rs368114596 0.00001
NM_001244008.2(KIF1A):c.3554C>T (p.Pro1185Leu) rs1316844536 0.00001
NM_001244008.2(KIF1A):c.3579G>A (p.Val1193=) rs1452876502 0.00001
NM_001244008.2(KIF1A):c.3580C>T (p.Leu1194Phe) rs901485293 0.00001
NM_001244008.2(KIF1A):c.3582C>G (p.Leu1194=) rs185587291 0.00001
NM_001244008.2(KIF1A):c.3584+7G>A rs768577501 0.00001
NM_001244008.2(KIF1A):c.3585-12C>T rs1220332881 0.00001
NM_001244008.2(KIF1A):c.3585C>T (p.Ser1195=) rs907370883 0.00001
NM_001244008.2(KIF1A):c.3590T>G (p.Leu1197Arg) rs756831909 0.00001
NM_001244008.2(KIF1A):c.3594G>T (p.Arg1198Ser) rs1411100549 0.00001
NM_001244008.2(KIF1A):c.3604C>T (p.Arg1202Cys) rs759228543 0.00001
NM_001244008.2(KIF1A):c.3614C>T (p.Pro1205Leu) rs1221795464 0.00001
NM_001244008.2(KIF1A):c.3616C>T (p.Arg1206Trp) rs772443183 0.00001
NM_001244008.2(KIF1A):c.363+17G>A rs1030989433 0.00001
NM_001244008.2(KIF1A):c.3631T>C (p.Ser1211Pro) rs2048162809 0.00001
NM_001244008.2(KIF1A):c.3640+12C>T rs1403885809 0.00001
NM_001244008.2(KIF1A):c.3640+13T>C rs1361694043 0.00001
NM_001244008.2(KIF1A):c.3640+3dup rs1414754009 0.00001
NM_001244008.2(KIF1A):c.3641-17C>G rs1335137063 0.00001
NM_001244008.2(KIF1A):c.3645C>T (p.Pro1215=) rs527460432 0.00001
NM_001244008.2(KIF1A):c.3670C>T (p.Arg1224Trp) rs368577433 0.00001
NM_001244008.2(KIF1A):c.3695G>A (p.Cys1232Tyr) rs372549695 0.00001
NM_001244008.2(KIF1A):c.3744C>T (p.Asn1248=) rs771357052 0.00001
NM_001244008.2(KIF1A):c.3750-19_3750-18del rs2047818019 0.00001
NM_001244008.2(KIF1A):c.3763G>A (p.Val1255Met) rs752703226 0.00001
NM_001244008.2(KIF1A):c.3765G>T (p.Val1255=) rs765454599 0.00001
NM_001244008.2(KIF1A):c.3775C>T (p.Arg1259Cys) rs766693472 0.00001
NM_001244008.2(KIF1A):c.3776G>A (p.Arg1259His) rs761077237 0.00001
NM_001244008.2(KIF1A):c.3795G>A (p.Met1265Ile) rs376759734 0.00001
NM_001244008.2(KIF1A):c.3816+8C>T rs776328472 0.00001
NM_001244008.2(KIF1A):c.3817-20C>T rs773007973 0.00001
NM_001244008.2(KIF1A):c.3817-6C>T rs748123503 0.00001
NM_001244008.2(KIF1A):c.3826C>T (p.Arg1276Ter) rs368078424 0.00001
NM_001244008.2(KIF1A):c.3829C>T (p.Arg1277Trp) rs374076405 0.00001
NM_001244008.2(KIF1A):c.3867T>C (p.His1289=) rs903579697 0.00001
NM_001244008.2(KIF1A):c.3872G>A (p.Arg1291His) rs201653410 0.00001
NM_001244008.2(KIF1A):c.3901+8C>T rs1461765194 0.00001
NM_001244008.2(KIF1A):c.3904C>T (p.Arg1302Cys) rs767151093 0.00001
NM_001244008.2(KIF1A):c.3905G>A (p.Arg1302His) rs376697478 0.00001
NM_001244008.2(KIF1A):c.3911G>A (p.Arg1304Gln) rs762988579 0.00001
NM_001244008.2(KIF1A):c.3935C>A (p.Ser1312Tyr) rs375758374 0.00001
NM_001244008.2(KIF1A):c.3936C>A (p.Ser1312=) rs753295506 0.00001
NM_001244008.2(KIF1A):c.3950A>G (p.Asn1317Ser) rs374267267 0.00001
NM_001244008.2(KIF1A):c.3966C>T (p.Asn1322=) rs1398187893 0.00001
NM_001244008.2(KIF1A):c.398C>T (p.Thr133Met) rs548452545 0.00001
NM_001244008.2(KIF1A):c.3990C>G (p.His1330Gln) rs765021474 0.00001
NM_001244008.2(KIF1A):c.399G>A (p.Thr133=) rs755122109 0.00001
NM_001244008.2(KIF1A):c.4004A>G (p.Asp1335Gly) rs747271930 0.00001
NM_001244008.2(KIF1A):c.4007+9G>A rs755392068 0.00001
NM_001244008.2(KIF1A):c.4007G>A (p.Arg1336Gln) rs772545191 0.00001
NM_001244008.2(KIF1A):c.4031C>T (p.Ala1344Val) rs876661146 0.00001
NM_001244008.2(KIF1A):c.4045A>C (p.Met1349Leu) rs777103421 0.00001
NM_001244008.2(KIF1A):c.4046T>C (p.Met1349Thr) rs1045777400 0.00001
NM_001244008.2(KIF1A):c.4068C>T (p.Asn1356=) rs1481460597 0.00001
NM_001244008.2(KIF1A):c.406G>A (p.Asp136Asn) rs374178011 0.00001
NM_001244008.2(KIF1A):c.4085G>A (p.Arg1362Gln) rs753620726 0.00001
NM_001244008.2(KIF1A):c.4093A>G (p.Ile1365Val) rs1181848204 0.00001
NM_001244008.2(KIF1A):c.4105C>A (p.Leu1369Ile) rs2046066994 0.00001
NM_001244008.2(KIF1A):c.4107C>G (p.Leu1369=) rs750344596 0.00001
NM_001244008.2(KIF1A):c.4123-9C>T rs1481047493 0.00001
NM_001244008.2(KIF1A):c.4133G>A (p.Cys1378Tyr) rs759928750 0.00001
NM_001244008.2(KIF1A):c.4194G>T (p.Lys1398Asn) rs745612845 0.00001
NM_001244008.2(KIF1A):c.4205C>T (p.Ser1402Leu) rs764487659 0.00001
NM_001244008.2(KIF1A):c.4217G>A (p.Arg1406His) rs755301795 0.00001
NM_001244008.2(KIF1A):c.424G>A (p.Val142Met) rs745504142 0.00001
NM_001244008.2(KIF1A):c.4256+5G>A rs762550114 0.00001
NM_001244008.2(KIF1A):c.4257-12T>C rs960525501 0.00001
NM_001244008.2(KIF1A):c.4263T>C (p.Arg1421=) rs1575522689 0.00001
NM_001244008.2(KIF1A):c.4278C>T (p.Tyr1426=) rs572662012 0.00001
NM_001244008.2(KIF1A):c.429+13G>A rs777803050 0.00001
NM_001244008.2(KIF1A):c.429+20G>A rs373887823 0.00001
NM_001244008.2(KIF1A):c.429+8T>C rs776547477 0.00001
NM_001244008.2(KIF1A):c.4297G>A (p.Val1433Met) rs879253922 0.00001
NM_001244008.2(KIF1A):c.4332G>A (p.Arg1444=) rs776552179 0.00001
NM_001244008.2(KIF1A):c.4333C>T (p.Arg1445Cys) rs573782102 0.00001
NM_001244008.2(KIF1A):c.4334G>A (p.Arg1445His) rs765877669 0.00001
NM_001244008.2(KIF1A):c.4370G>A (p.Arg1457Gln) rs1460326204 0.00001
NM_001244008.2(KIF1A):c.438C>T (p.Tyr146=) rs768547259 0.00001
NM_001244008.2(KIF1A):c.4391G>T (p.Gly1464Val) rs1477553245 0.00001
NM_001244008.2(KIF1A):c.440T>A (p.Met147Lys) rs1369791205 0.00001
NM_001244008.2(KIF1A):c.4465-15G>A rs1311217997 0.00001
NM_001244008.2(KIF1A):c.4496G>A (p.Arg1499Gln) rs866211603 0.00001
NM_001244008.2(KIF1A):c.450C>T (p.Tyr150=) rs1419168988 0.00001
NM_001244008.2(KIF1A):c.4513G>A (p.Ala1505Thr) rs915433180 0.00001
NM_001244008.2(KIF1A):c.4519C>T (p.Arg1507Trp) rs755721997 0.00001
NM_001244008.2(KIF1A):c.4521G>T (p.Arg1507=) rs1181895449 0.00001
NM_001244008.2(KIF1A):c.4529C>T (p.Pro1510Leu) rs368005947 0.00001
NM_001244008.2(KIF1A):c.4544C>T (p.Pro1515Leu) rs867230401 0.00001
NM_001244008.2(KIF1A):c.4555G>A (p.Glu1519Lys) rs769965899 0.00001
NM_001244008.2(KIF1A):c.4563T>C (p.Ser1521=) rs2045535007 0.00001
NM_001244008.2(KIF1A):c.4568C>T (p.Ser1523Phe) rs1157791693 0.00001
NM_001244008.2(KIF1A):c.4592C>T (p.Ser1531Phe) rs748858949 0.00001
NM_001244008.2(KIF1A):c.45C>T (p.Phe15=) rs895273323 0.00001
NM_001244008.2(KIF1A):c.4633C>A (p.Pro1545Thr) rs1422413312 0.00001
NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp) rs1468401006 0.00001
NM_001244008.2(KIF1A):c.4649G>A (p.Arg1550Gln) rs952804990 0.00001
NM_001244008.2(KIF1A):c.4649G>C (p.Arg1550Pro) rs952804990 0.00001
NM_001244008.2(KIF1A):c.4651_4665+7dup rs2045520957 0.00001
NM_001244008.2(KIF1A):c.4665+19C>T rs1439948853 0.00001
NM_001244008.2(KIF1A):c.4689A>G (p.Thr1563=) rs1349816382 0.00001
NM_001244008.2(KIF1A):c.471C>T (p.Leu157=) rs368414611 0.00001
NM_001244008.2(KIF1A):c.4722C>T (p.Cys1574=) rs373532949 0.00001
NM_001244008.2(KIF1A):c.4744-20A>G rs1457429470 0.00001
NM_001244008.2(KIF1A):c.4750G>A (p.Glu1584Lys) rs770455518 0.00001
NM_001244008.2(KIF1A):c.4762A>G (p.Thr1588Ala) rs1280317566 0.00001
NM_001244008.2(KIF1A):c.4790C>T (p.Pro1597Leu) rs374417779 0.00001
NM_001244008.2(KIF1A):c.4809C>T (p.Leu1603=) rs75666979 0.00001
NM_001244008.2(KIF1A):c.480C>G (p.Pro160=) rs1229926101 0.00001
NM_001244008.2(KIF1A):c.4811C>G (p.Thr1604Ser) rs982977592 0.00001
NM_001244008.2(KIF1A):c.483G>A (p.Lys161=) rs2054759177 0.00001
NM_001244008.2(KIF1A):c.4864C>T (p.Leu1622=) rs1553624720 0.00001
NM_001244008.2(KIF1A):c.4869G>A (p.Arg1623=) rs372521322 0.00001
NM_001244008.2(KIF1A):c.4874C>T (p.Pro1625Leu) rs567604039 0.00001
NM_001244008.2(KIF1A):c.4880C>T (p.Pro1627Leu) rs763752868 0.00001
NM_001244008.2(KIF1A):c.4881C>T (p.Pro1627=) rs1255364051 0.00001
NM_001244008.2(KIF1A):c.4908C>T (p.Pro1636=) rs759393763 0.00001
NM_001244008.2(KIF1A):c.4911G>A (p.Glu1637=) rs1372917042 0.00001
NM_001244008.2(KIF1A):c.4952C>T (p.Ala1651Val) rs369475699 0.00001
NM_001244008.2(KIF1A):c.4954C>T (p.Arg1652Trp) rs746442427 0.00001
NM_001244008.2(KIF1A):c.4971C>A (p.Asp1657Glu) rs184939069 0.00001
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys) rs672601365 0.00001
NM_001244008.2(KIF1A):c.5021+6T>C rs1179810798 0.00001
NM_001244008.2(KIF1A):c.5024C>T (p.Pro1675Leu) rs779705838 0.00001
NM_001244008.2(KIF1A):c.5027T>C (p.Ile1676Thr) rs372664825 0.00001
NM_001244008.2(KIF1A):c.5046C>T (p.Tyr1682=) rs763144444 0.00001
NM_001244008.2(KIF1A):c.5067C>T (p.His1689=) rs771269616 0.00001
NM_001244008.2(KIF1A):c.5069C>T (p.Thr1690Met) rs1468911667 0.00001
NM_001244008.2(KIF1A):c.5095G>A (p.Val1699Met) rs1559472826 0.00001
NM_001244008.2(KIF1A):c.5102G>A (p.Arg1701Gln) rs780828140 0.00001
NM_001244008.2(KIF1A):c.5143G>A (p.Val1715Met) rs766569322 0.00001
NM_001244008.2(KIF1A):c.5167G>A (p.Ala1723Thr) rs879253903 0.00001
NM_001244008.2(KIF1A):c.5178G>C (p.Gln1726His) rs1461644464 0.00001
NM_001244008.2(KIF1A):c.5184G>A (p.Glu1728=) rs1441709046 0.00001
NM_001244008.2(KIF1A):c.5188A>G (p.Ser1730Gly) rs776169659 0.00001
NM_001244008.2(KIF1A):c.5216C>T (p.Thr1739Ile) rs371267255 0.00001
NM_001244008.2(KIF1A):c.5226A>G (p.Thr1742=) rs1014899412 0.00001
NM_001244008.2(KIF1A):c.5229C>T (p.Phe1743=) rs377694236 0.00001
NM_001244008.2(KIF1A):c.5248C>T (p.Arg1750Cys) rs1396029721 0.00001
NM_001244008.2(KIF1A):c.5271C>T (p.Ala1757=) rs995451127 0.00001
NM_001244008.2(KIF1A):c.5274C>T (p.Ser1758=) rs899778611 0.00001
NM_001244008.2(KIF1A):c.5289T>C (p.His1763=) rs768316049 0.00001
NM_001244008.2(KIF1A):c.5291A>G (p.Asp1764Gly) rs1202293305 0.00001
NM_001244008.2(KIF1A):c.52C>T (p.Arg18Trp) rs2056556566 0.00001
NM_001244008.2(KIF1A):c.5333+18G>A rs372473134 0.00001
NM_001244008.2(KIF1A):c.5333+20G>A rs749916994 0.00001
NM_001244008.2(KIF1A):c.5339A>G (p.Lys1780Arg) rs748416328 0.00001
NM_001244008.2(KIF1A):c.5369G>A (p.Arg1790Gln) rs1349426679 0.00001
NM_001244008.2(KIF1A):c.5371G>T (p.Val1791Phe) rs1188028936 0.00001
NM_001244008.2(KIF1A):c.540C>T (p.Asp180=) rs766172551 0.00001
NM_001244008.2(KIF1A):c.560C>T (p.Thr187Ile) rs370623844 0.00001
NM_001244008.2(KIF1A):c.608+14C>T rs1223745984 0.00001
NM_001244008.2(KIF1A):c.608+19T>C rs1164290549 0.00001
NM_001244008.2(KIF1A):c.609-20C>T rs571736481 0.00001
NM_001244008.2(KIF1A):c.627C>T (p.Asn209=) rs1418489378 0.00001
NM_001244008.2(KIF1A):c.639C>T (p.Thr213=) rs375365975 0.00001
NM_001244008.2(KIF1A):c.65G>A (p.Arg22His) rs761521912 0.00001
NM_001244008.2(KIF1A):c.672C>A (p.Ile224=) rs376320868 0.00001
NM_001244008.2(KIF1A):c.685C>T (p.Arg229Cys) rs776660768 0.00001
NM_001244008.2(KIF1A):c.686G>A (p.Arg229His) rs771122739 0.00001
NM_001244008.2(KIF1A):c.687C>G (p.Arg229=) rs1227979792 0.00001
NM_001244008.2(KIF1A):c.693C>T (p.Asp231=) rs772411022 0.00001
NM_001244008.2(KIF1A):c.694G>A (p.Ala232Thr) rs1358119741 0.00001
NM_001244008.2(KIF1A):c.69C>T (p.Asp23=) rs774350715 0.00001
NM_001244008.2(KIF1A):c.720+9del rs2054540799 0.00001
NM_001244008.2(KIF1A):c.747G>A (p.Leu249=) rs750443593 0.00001
NM_001244008.2(KIF1A):c.75G>C (p.Lys25Asn) rs768320178 0.00001
NM_001244008.2(KIF1A):c.788C>T (p.Thr263Met) rs868837727 0.00001
NM_001244008.2(KIF1A):c.791G>T (p.Arg264Leu) rs1413440372 0.00001
NM_001244008.2(KIF1A):c.798+15G>A rs1332274251 0.00001
NM_001244008.2(KIF1A):c.799-4G>A rs759945798 0.00001
NM_001244008.2(KIF1A):c.799-5C>T rs1328471853 0.00001
NM_001244008.2(KIF1A):c.837C>T (p.Gly279=) rs2054277811 0.00001
NM_001244008.2(KIF1A):c.843C>A (p.Val281=) rs367790793 0.00001
NM_001244008.2(KIF1A):c.844A>G (p.Ile282Val) rs2054277083 0.00001
NM_001244008.2(KIF1A):c.864+12G>A rs374282628 0.00001
NM_001244008.2(KIF1A):c.865G>C (p.Asp289His) rs1162579551 0.00001
NM_001244008.2(KIF1A):c.876C>T (p.Pro292=) rs902561000 0.00001
NM_001244008.2(KIF1A):c.877A>T (p.Asn293Tyr) rs1042391791 0.00001
NM_001244008.2(KIF1A):c.878A>G (p.Asn293Ser) rs747127041 0.00001
NM_001244008.2(KIF1A):c.879C>T (p.Asn293=) rs897263036 0.00001
NM_001244008.2(KIF1A):c.881A>G (p.Lys294Arg) rs946682837 0.00001
NM_001244008.2(KIF1A):c.883-8C>T rs372514891 0.00001
NM_001244008.2(KIF1A):c.883-9C>G rs533309945 0.00001
NM_001244008.2(KIF1A):c.890A>G (p.Lys297Arg) rs1250934752 0.00001
NM_001244008.2(KIF1A):c.903A>T (p.Thr301=) rs372053086 0.00001
NM_001244008.2(KIF1A):c.915G>A (p.Pro305=) rs772005441 0.00001
NM_001244008.2(KIF1A):c.919C>T (p.Arg307Ter) rs369692236 0.00001
NM_001244008.2(KIF1A):c.959-16G>C rs371447665 0.00001
NM_001253852.3(AP4B1):c.1057C>T (p.Arg353Ter) rs138335735 0.00001
NM_001253852.3(AP4B1):c.1111A>G (p.Ile371Val) rs797045242 0.00001
NM_001253852.3(AP4B1):c.1114+9C>T rs1478207935 0.00001
NM_001253852.3(AP4B1):c.112A>G (p.Arg38Gly) rs773391519 0.00001
NM_001253852.3(AP4B1):c.1144T>C (p.Cys382Arg) rs781635999 0.00001
NM_001253852.3(AP4B1):c.1215C>T (p.Phe405=) rs759899315 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001253852.3(AP4B1):c.1273G>A (p.Gly425Ser) rs777033290 0.00001
NM_001253852.3(AP4B1):c.1284G>A (p.Glu428=) rs752215351 0.00001
NM_001253852.3(AP4B1):c.1526T>C (p.Met509Thr) rs1043676103 0.00001
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter) rs767220480 0.00001
NM_001253852.3(AP4B1):c.1553A>G (p.Tyr518Cys) rs1265334140 0.00001
NM_001253852.3(AP4B1):c.1697T>C (p.Val566Ala) rs373733045 0.00001
NM_001253852.3(AP4B1):c.1744G>A (p.Glu582Lys) rs779319072 0.00001
NM_001253852.3(AP4B1):c.1839T>G (p.Pro613=) rs549517422 0.00001
NM_001253852.3(AP4B1):c.2066C>T (p.Thr689Ile) rs768141876 0.00001
NM_001253852.3(AP4B1):c.211T>C (p.Tyr71His) rs1186934233 0.00001
NM_001253852.3(AP4B1):c.2145A>T (p.Ala715=) rs969793953 0.00001
NM_001253852.3(AP4B1):c.215T>C (p.Met72Thr) rs566369623 0.00001
NM_001253852.3(AP4B1):c.222A>G (p.Thr74=) rs1439180952 0.00001
NM_001253852.3(AP4B1):c.266C>T (p.Thr89Met) rs1454940627 0.00001
NM_001253852.3(AP4B1):c.372T>C (p.Pro124=) rs1668308067 0.00001
NM_001253852.3(AP4B1):c.506G>A (p.Arg169His) rs144490934 0.00001
NM_001253852.3(AP4B1):c.52T>G (p.Cys18Gly) rs777755720 0.00001
NM_001253852.3(AP4B1):c.56A>G (p.Asn19Ser) rs758302124 0.00001
NM_001253852.3(AP4B1):c.594C>T (p.Pro198=) rs766215887 0.00001
NM_001253852.3(AP4B1):c.616C>G (p.Arg206Gly) rs762612591 0.00001
NM_001253852.3(AP4B1):c.617+16C>T rs1046613270 0.00001
NM_001253852.3(AP4B1):c.618-16T>G rs772575711 0.00001
NM_001253852.3(AP4B1):c.618-3T>C rs755780191 0.00001
NM_001253852.3(AP4B1):c.749G>A (p.Gly250Asp) rs778029639 0.00001
NM_001253852.3(AP4B1):c.804C>T (p.His268=) rs762267301 0.00001
NM_001253852.3(AP4B1):c.91A>C (p.Asn31His) rs753932633 0.00001
NM_001253852.3(AP4B1):c.924A>G (p.Pro308=) rs1256078127 0.00001
NM_001271803.2(REEP2):c.202C>T (p.Leu68=) rs769491520 0.00001
NM_001271803.2(REEP2):c.350C>T (p.Thr117Ile) rs1763895130 0.00001
NM_001271803.2(REEP2):c.517C>T (p.Arg173Cys) rs370729450 0.00001
NM_001271803.2(REEP2):c.540C>T (p.Ser180=) rs1371022332 0.00001
NM_001271803.2(REEP2):c.697-3C>T rs1288777628 0.00001
NM_001271803.2(REEP2):c.748G>A (p.Gly250Arg) rs1330664969 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_001371279.1(REEP1):c.106-6C>G rs751690452 0.00001
NM_001371279.1(REEP1):c.10T>G (p.Trp4Gly) rs863224189 0.00001
NM_001371279.1(REEP1):c.183-8C>G rs1405827641 0.00001
NM_001371279.1(REEP1):c.198T>C (p.Tyr66=) rs1444613668 0.00001
NM_001371279.1(REEP1):c.293C>T (p.Ser98Leu) rs766247706 0.00001
NM_001371279.1(REEP1):c.336C>T (p.Asp112=) rs867308226 0.00001
NM_001371279.1(REEP1):c.338G>A (p.Arg113Gln) rs985433681 0.00001
NM_001371279.1(REEP1):c.353T>C (p.Leu118Pro) rs1553461156 0.00001
NM_001371279.1(REEP1):c.388G>A (p.Ala130Thr) rs777316624 0.00001
NM_001371279.1(REEP1):c.391A>G (p.Thr131Ala) rs1558889637 0.00001
NM_001371279.1(REEP1):c.400G>A (p.Val134Met) rs747398780 0.00001
NM_001371279.1(REEP1):c.435G>A (p.Ser145=) rs769926270 0.00001
NM_001371279.1(REEP1):c.446G>A (p.Arg149Gln) rs896564103 0.00001
NM_001371279.1(REEP1):c.521G>C (p.Gly174Ala) rs1279009965 0.00001
NM_001371279.1(REEP1):c.538G>A (p.Gly180Ser) rs748917788 0.00001
NM_001371279.1(REEP1):c.545A>C (p.His182Pro) rs1675091136 0.00001
NM_001371279.1(REEP1):c.569G>A (p.Ser190Asn) rs1425896792 0.00001
NM_001371279.1(REEP1):c.57T>C (p.Pro19=) rs943579285 0.00001
NM_001371279.1(REEP1):c.595+14T>C rs115971425 0.00001
NM_001371279.1(REEP1):c.784-5A>G rs1356865335 0.00001
NM_001371279.1(REEP1):c.788C>T (p.Pro263Leu) rs758721888 0.00001
NM_001371279.1(REEP1):c.94A>G (p.Ile32Val) rs745678615 0.00001
NM_001371279.1(REEP1):c.9A>G (p.Ser3=) rs1284381587 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.1363T>C (p.Leu455=) rs753823851 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.2246G>A (p.Arg749Gln) rs748925635 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_003119.4(SPG7):c.1005C>T (p.Leu335=) rs1348515048 0.00001
NM_003119.4(SPG7):c.1018A>G (p.Lys340Glu) rs375684876 0.00001
NM_003119.4(SPG7):c.1050C>T (p.Pro350=) rs1360515266 0.00001
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser) rs537421502 0.00001
NM_003119.4(SPG7):c.1055G>C (p.Gly352Ala) rs1567914095 0.00001
NM_003119.4(SPG7):c.1067C>T (p.Thr356Met) rs754903980 0.00001
NM_003119.4(SPG7):c.1068G>A (p.Thr356=) rs368612689 0.00001
NM_003119.4(SPG7):c.1073T>C (p.Leu358Pro) rs997293950 0.00001
NM_003119.4(SPG7):c.1079A>G (p.Lys360Arg) rs376803235 0.00001
NM_003119.4(SPG7):c.1080G>A (p.Lys360=) rs1212650663 0.00001
NM_003119.4(SPG7):c.1092G>A (p.Thr364=) rs771190749 0.00001
NM_003119.4(SPG7):c.1115C>T (p.Ala372Val) rs776176403 0.00001
NM_003119.4(SPG7):c.1175G>A (p.Ser392Asn) rs745459731 0.00001
NM_003119.4(SPG7):c.1191C>G (p.Ala397=) rs1597635045 0.00001
NM_003119.4(SPG7):c.1199G>A (p.Arg400Gln) rs541757224 0.00001
NM_003119.4(SPG7):c.1234G>A (p.Ala412Thr) rs779792728 0.00001
NM_003119.4(SPG7):c.1254C>T (p.Ser418=) rs1056819996 0.00001
NM_003119.4(SPG7):c.1256C>T (p.Thr419Ile) rs371504521 0.00001
NM_003119.4(SPG7):c.1281G>A (p.Thr427=) rs369614581 0.00001
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter) rs138671904 0.00001
NM_003119.4(SPG7):c.1378A>G (p.Ile460Val) rs748873540 0.00001
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter) rs748555510 0.00001
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln) rs756535079 0.00001
NM_003119.4(SPG7):c.1523G>A (p.Arg508His) rs201733920 0.00001
NM_003119.4(SPG7):c.1635C>T (p.Phe545=) rs770394077 0.00001
NM_003119.4(SPG7):c.1643C>A (p.Ala548Asp) rs863224220 0.00001
NM_003119.4(SPG7):c.1644C>T (p.Ala548=) rs145441974 0.00001
NM_003119.4(SPG7):c.1663+11C>T rs778284438 0.00001
NM_003119.4(SPG7):c.1664-11C>A rs574656941 0.00001
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030 0.00001
NM_003119.4(SPG7):c.1695G>A (p.Lys565=) rs1426006851 0.00001
NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter) rs946925151 0.00001
NM_003119.4(SPG7):c.1780-7G>C rs775799537 0.00001
NM_003119.4(SPG7):c.1929C>A (p.Val643=) rs746082965 0.00001
NM_003119.4(SPG7):c.1959G>T (p.Lys653Asn) rs775569150 0.00001
NM_003119.4(SPG7):c.1967G>A (p.Arg656His) rs373143136 0.00001
NM_003119.4(SPG7):c.1976A>G (p.Tyr659Cys) rs1052772091 0.00001
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg) rs752989523 0.00001
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906 0.00001
NM_003119.4(SPG7):c.204A>G (p.Leu68=) rs566363528 0.00001
NM_003119.4(SPG7):c.2062C>T (p.Arg688Trp) rs1249957920 0.00001
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094 0.00001
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys) rs752257333 0.00001
NM_003119.4(SPG7):c.2148G>C (p.Lys716Asn) rs776661222 0.00001
NM_003119.4(SPG7):c.2181G>A (p.Ala727=) rs753423781 0.00001
NM_003119.4(SPG7):c.2182-19C>T rs752601752 0.00001
NM_003119.4(SPG7):c.2182C>G (p.Leu728Val) rs1433673841 0.00001
NM_003119.4(SPG7):c.2225A>G (p.Asp742Gly) rs759329959 0.00001
NM_003119.4(SPG7):c.2253C>T (p.Pro751=) rs1466411495 0.00001
NM_003119.4(SPG7):c.2271del (p.Met757fs) rs1217391623 0.00001
NM_003119.4(SPG7):c.2293G>A (p.Asp765Asn) rs374941242 0.00001
NM_003119.4(SPG7):c.2323G>A (p.Glu775Lys) rs1293899912 0.00001
NM_003119.4(SPG7):c.2373G>A (p.Pro791=) rs768453376 0.00001
NM_003119.4(SPG7):c.287-15C>G rs760006158 0.00001
NM_003119.4(SPG7):c.32T>C (p.Leu11Pro) rs943187212 0.00001
NM_003119.4(SPG7):c.33C>T (p.Leu11=) rs1319347094 0.00001
NM_003119.4(SPG7):c.373G>A (p.Glu125Lys) rs774326531 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) rs912983346 0.00001
NM_003119.4(SPG7):c.392G>A (p.Arg131His) rs985921704 0.00001
NM_003119.4(SPG7):c.40G>A (p.Gly14Ser) rs1242380690 0.00001
NM_003119.4(SPG7):c.416G>A (p.Arg139Gln) rs948625936 0.00001
NM_003119.4(SPG7):c.504C>T (p.Asn168=) rs151078862 0.00001
NM_003119.4(SPG7):c.529A>G (p.Lys177Glu) rs1244544459 0.00001
NM_003119.4(SPG7):c.618+14C>T rs574361328 0.00001
NM_003119.4(SPG7):c.618+8A>G rs768740995 0.00001
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter) rs764791523 0.00001
NM_003119.4(SPG7):c.682G>A (p.Ala228Thr) rs375721189 0.00001
NM_003119.4(SPG7):c.703A>G (p.Ile235Val) rs191022979 0.00001
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter) rs779055639 0.00001
NM_003119.4(SPG7):c.759-2A>G rs770299071 0.00001
NM_003119.4(SPG7):c.759-4G>A rs777052133 0.00001
NM_003119.4(SPG7):c.767A>T (p.Tyr256Phe) rs773926412 0.00001
NM_003119.4(SPG7):c.775_781dup (p.Thr261fs) rs780810116 0.00001
NM_003119.4(SPG7):c.783G>A (p.Thr261=) rs778798038 0.00001
NM_003119.4(SPG7):c.861+1G>C rs1412575396 0.00001
NM_003119.4(SPG7):c.861+5G>A rs757333854 0.00001
NM_003119.4(SPG7):c.862-15G>A rs1208489603 0.00001
NM_003119.4(SPG7):c.891T>A (p.Ile297=) rs773162353 0.00001
NM_003119.4(SPG7):c.898G>A (p.Gly300Arg) rs771060044 0.00001
NM_003119.4(SPG7):c.930C>T (p.Asp310=) rs779449885 0.00001
NM_003119.4(SPG7):c.988-1G>A rs748309520 0.00001
NM_003119.4(SPG7):c.988-6G>A rs779901380 0.00001
NM_003119.4(SPG7):c.99C>T (p.Phe33=) rs1331243813 0.00001
NM_004722.4(AP4M1):c.1013G>A (p.Arg338Gln) rs536356225 0.00001
NM_004722.4(AP4M1):c.1025+19C>G rs756183556 0.00001
NM_004722.4(AP4M1):c.1074G>A (p.Glu358=) rs529291627 0.00001
NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter) rs777220438 0.00001
NM_004722.4(AP4M1):c.1120C>T (p.Leu374Phe) rs747834855 0.00001
NM_004722.4(AP4M1):c.1137+10G>C rs776964578 0.00001
NM_004722.4(AP4M1):c.1187C>T (p.Ser396Leu) rs772203028 0.00001
NM_004722.4(AP4M1):c.1190C>T (p.Ala397Val) rs573143488 0.00001
NM_004722.4(AP4M1):c.1228G>A (p.Glu410Lys) rs751442561 0.00001
NM_004722.4(AP4M1):c.129C>A (p.Asp43Glu) rs760835879 0.00001
NM_004722.4(AP4M1):c.1317G>A (p.Trp439Ter) rs772119268 0.00001
NM_004722.4(AP4M1):c.1339G>A (p.Asp447Asn) rs772970558 0.00001
NM_004722.4(AP4M1):c.1360T>C (p.Ter454Arg) rs1200528735 0.00001
NM_004722.4(AP4M1):c.142del (p.Val48fs) rs764326593 0.00001
NM_004722.4(AP4M1):c.155A>G (p.His52Arg) rs969442891 0.00001
NM_004722.4(AP4M1):c.175A>G (p.Ile59Val) rs748804549 0.00001
NM_004722.4(AP4M1):c.188G>C (p.Gly63Ala) rs1362214871 0.00001
NM_004722.4(AP4M1):c.189C>T (p.Gly63=) rs367614875 0.00001
NM_004722.4(AP4M1):c.273C>T (p.Gly91=) rs778849366 0.00001
NM_004722.4(AP4M1):c.299G>T (p.Gly100Val) rs772854398 0.00001
NM_004722.4(AP4M1):c.351+18C>T rs748478430 0.00001
NM_004722.4(AP4M1):c.352-12C>T rs1312514170 0.00001
NM_004722.4(AP4M1):c.3G>C (p.Met1Ile) rs968876829 0.00001
NM_004722.4(AP4M1):c.458G>A (p.Gly153Asp) rs797045250 0.00001
NM_004722.4(AP4M1):c.463-2A>T rs750783717 0.00001
NM_004722.4(AP4M1):c.513C>G (p.Ser171Arg) rs374978880 0.00001
NM_004722.4(AP4M1):c.515G>A (p.Arg172His) rs746585330 0.00001
NM_004722.4(AP4M1):c.543+11G>C rs200561621 0.00001
NM_004722.4(AP4M1):c.543+11_543+14dup rs764092006 0.00001
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys) rs387906838 0.00001
NM_004722.4(AP4M1):c.606+20C>T rs1796284845 0.00001
NM_004722.4(AP4M1):c.607-2A>G rs755533568 0.00001
NM_004722.4(AP4M1):c.611C>T (p.Ser204Phe) rs200722903 0.00001
NM_004722.4(AP4M1):c.643C>T (p.Arg215Trp) rs146445385 0.00001
NM_004722.4(AP4M1):c.673+6G>A rs201427711 0.00001
NM_004722.4(AP4M1):c.674-5G>A rs576875998 0.00001
NM_004722.4(AP4M1):c.746G>A (p.Arg249Gln) rs368830741 0.00001
NM_004722.4(AP4M1):c.753T>C (p.Asp251=) rs962896326 0.00001
NM_004722.4(AP4M1):c.811C>T (p.Arg271Cys) rs781616312 0.00001
NM_004722.4(AP4M1):c.860C>T (p.Ser287Phe) rs774646136 0.00001
NM_004722.4(AP4M1):c.862G>C (p.Asp288His) rs767611212 0.00001
NM_004722.4(AP4M1):c.867C>T (p.Asp289=) rs756660680 0.00001
NM_004722.4(AP4M1):c.890G>A (p.Arg297Gln) rs768778642 0.00001
NM_004722.4(AP4M1):c.90C>G (p.Ala30=) rs1418445713 0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg) rs754498075 0.00001
NM_004722.4(AP4M1):c.974+16G>A rs777424471 0.00001
NM_004722.4(AP4M1):c.988G>C (p.Val330Leu) rs1279854067 0.00001
NM_005154.5(USP8):c.1090T>C (p.Leu364=) rs750843415 0.00001
NM_005154.5(USP8):c.1120C>A (p.Pro374Thr) rs1359249352 0.00001
NM_005154.5(USP8):c.1129A>G (p.Ile377Val) rs373704916 0.00001
NM_005154.5(USP8):c.1310G>A (p.Ser437Asn) rs775130274 0.00001
NM_005154.5(USP8):c.1460A>G (p.Gln487Arg) rs761395751 0.00001
NM_005154.5(USP8):c.1540A>G (p.Ile514Val) rs746289412 0.00001
NM_005154.5(USP8):c.1597G>A (p.Ala533Thr) rs768167279 0.00001
NM_005154.5(USP8):c.1726C>T (p.Pro576Ser) rs755591528 0.00001
NM_005154.5(USP8):c.1840C>T (p.Leu614=) rs745444234 0.00001
NM_005154.5(USP8):c.2108C>A (p.Pro703His) rs766783893 0.00001
NM_005154.5(USP8):c.2121T>C (p.Asp707=) rs767210381 0.00001
NM_005154.5(USP8):c.2235-9C>T rs374691987 0.00001
NM_005154.5(USP8):c.2291A>G (p.Asn764Ser) rs1318445105 0.00001
NM_005154.5(USP8):c.2532T>C (p.Tyr844=) rs770928016 0.00001
NM_005154.5(USP8):c.564A>G (p.Leu188=) rs534878262 0.00001
NM_005154.5(USP8):c.823C>T (p.Arg275Trp) rs752682936 0.00001
NM_005154.5(USP8):c.865G>A (p.Val289Ile) rs143070181 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_006459.4(ERLIN1):c.1015A>G (p.Asn339Asp) rs199928340 0.00001
NM_006459.4(ERLIN1):c.114-19T>A rs370929588 0.00001
NM_006459.4(ERLIN1):c.177T>C (p.Thr59=) rs770027728 0.00001
NM_006459.4(ERLIN1):c.178A>G (p.Thr60Ala) rs1040330782 0.00001
NM_006459.4(ERLIN1):c.243-17T>C rs764296818 0.00001
NM_006459.4(ERLIN1):c.317T>C (p.Val106Ala) rs766334565 0.00001
NM_006459.4(ERLIN1):c.450G>C (p.Leu150=) rs767470324 0.00001
NM_006459.4(ERLIN1):c.451A>G (p.Lys151Glu) rs1212995006 0.00001
NM_006459.4(ERLIN1):c.496A>G (p.Thr166Ala) rs1347300132 0.00001
NM_006459.4(ERLIN1):c.678G>C (p.Val226=) rs762266742 0.00001
NM_006459.4(ERLIN1):c.689G>A (p.Arg230Gln) rs943655200 0.00001
NM_006459.4(ERLIN1):c.745+5A>G rs1173306064 0.00001
NM_006459.4(ERLIN1):c.763C>T (p.Arg255Ter) rs876657413 0.00001
NM_006459.4(ERLIN1):c.76C>G (p.His26Asp) rs370785461 0.00001
NM_006459.4(ERLIN1):c.789A>G (p.Glu263=) rs759786446 0.00001
NM_006459.4(ERLIN1):c.813C>T (p.Ala271=) rs747050921 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.2674C>T (p.Pro892Ser) rs561679213 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_014846.4(WASHC5):c.1211G>A (p.Arg404Gln) rs753133551 0.00001
NM_014846.4(WASHC5):c.1235A>G (p.Gln412Arg) rs1328488239 0.00001
NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro) rs766713240 0.00001
NM_014846.4(WASHC5):c.1408+4A>C rs780340651 0.00001
NM_014846.4(WASHC5):c.143A>G (p.Gln48Arg) rs1357562835 0.00001
NM_014846.4(WASHC5):c.1521+10C>T rs760233617 0.00001
NM_014846.4(WASHC5):c.1611C>G (p.Thr537=) rs1375065582 0.00001
NM_014846.4(WASHC5):c.1650C>T (p.Ile550=) rs780912744 0.00001
NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu) rs751591590 0.00001
NM_014846.4(WASHC5):c.1688+10G>A rs200755877 0.00001
NM_014846.4(WASHC5):c.1728A>G (p.Pro576=) rs767965256 0.00001
NM_014846.4(WASHC5):c.1785G>T (p.Leu595=) rs1044612540 0.00001
NM_014846.4(WASHC5):c.2008C>T (p.Arg670Ter) rs762401591 0.00001
NM_014846.4(WASHC5):c.2032C>T (p.His678Tyr) rs1403229183 0.00001
NM_014846.4(WASHC5):c.2098-6A>G rs984555140 0.00001
NM_014846.4(WASHC5):c.2199+14A>G rs754889043 0.00001
NM_014846.4(WASHC5):c.2379+8A>T rs1198647443 0.00001
NM_014846.4(WASHC5):c.2505-1G>C rs953586472 0.00001
NM_014846.4(WASHC5):c.2627T>C (p.Leu876Ser) rs1289915533 0.00001
NM_014846.4(WASHC5):c.2769C>T (p.Val923=) rs545318648 0.00001
NM_014846.4(WASHC5):c.2846T>C (p.Met949Thr) rs1182525812 0.00001
NM_014846.4(WASHC5):c.2955-10C>G rs1388469388 0.00001
NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His) rs761500521 0.00001
NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala) rs775752911 0.00001
NM_014846.4(WASHC5):c.3121A>G (p.Ile1041Val) rs1184928685 0.00001
NM_014846.4(WASHC5):c.3145G>A (p.Ala1049Thr) rs375664674 0.00001
NM_014846.4(WASHC5):c.348C>T (p.Leu116=) rs1817292048 0.00001
NM_014846.4(WASHC5):c.435A>G (p.Leu145=) rs145842027 0.00001
NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter) rs1462319941 0.00001
NM_014846.4(WASHC5):c.518+12C>T rs776771436 0.00001
NM_014846.4(WASHC5):c.654C>T (p.Asn218=) rs144085283 0.00001
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter) rs754463353 0.00001
NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp) rs765982075 0.00001
NM_014846.4(WASHC5):c.863G>C (p.Trp288Ser) rs1019440298 0.00001
NM_014846.4(WASHC5):c.864+5G>C rs772529893 0.00001
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn) rs753529606 0.00001
NM_014846.4(WASHC5):c.885G>A (p.Gly295=) rs1435894101 0.00001
NM_014846.4(WASHC5):c.975A>G (p.Glu325=) rs773768832 0.00001
NM_014855.3(AP5Z1):c.1010G>A (p.Arg337Gln) rs549733205 0.00001
NM_014855.3(AP5Z1):c.1072C>T (p.Arg358Cys) rs551568063 0.00001
NM_014855.3(AP5Z1):c.1074C>T (p.Arg358=) rs774452213 0.00001
NM_014855.3(AP5Z1):c.1097T>C (p.Val366Ala) rs1308876232 0.00001
NM_014855.3(AP5Z1):c.1119C>T (p.Phe373=) rs886062353 0.00001
NM_014855.3(AP5Z1):c.1135G>A (p.Glu379Lys) rs772831449 0.00001
NM_014855.3(AP5Z1):c.1428G>A (p.Leu476=) rs1554258349 0.00001
NM_014855.3(AP5Z1):c.1431G>A (p.Thr477=) rs369951556 0.00001
NM_014855.3(AP5Z1):c.1595+19A>G rs111580118 0.00001
NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=) rs775572689 0.00001
NM_014855.3(AP5Z1):c.1611C>T (p.His537=) rs768151612 0.00001
NM_014855.3(AP5Z1):c.1665C>T (p.Ala555=) rs761290075 0.00001
NM_014855.3(AP5Z1):c.1707+14C>T rs759055397 0.00001
NM_014855.3(AP5Z1):c.1716C>T (p.Asp572=) rs777196051 0.00001
NM_014855.3(AP5Z1):c.171C>T (p.Tyr57=) rs750818039 0.00001
NM_014855.3(AP5Z1):c.179+15G>A rs749007746 0.00001
NM_014855.3(AP5Z1):c.1863G>A (p.Glu621=) rs780422345 0.00001
NM_014855.3(AP5Z1):c.1910G>A (p.Cys637Tyr) rs557706442 0.00001
NM_014855.3(AP5Z1):c.1970C>T (p.Thr657Ile) rs1243924522 0.00001
NM_014855.3(AP5Z1):c.2038G>A (p.Glu680Lys) rs745870220 0.00001
NM_014855.3(AP5Z1):c.2081C>T (p.Pro694Leu) rs1368922764 0.00001
NM_014855.3(AP5Z1):c.2089G>T (p.Val697Leu) rs769732363 0.00001
NM_014855.3(AP5Z1):c.2113C>G (p.Leu705Val) rs762540035 0.00001
NM_014855.3(AP5Z1):c.2118G>A (p.Thr706=) rs374137416 0.00001
NM_014855.3(AP5Z1):c.2154-4C>G rs1392478975 0.00001
NM_014855.3(AP5Z1):c.2180G>A (p.Arg727Lys) rs1250099836 0.00001
NM_014855.3(AP5Z1):c.2189C>T (p.Ala730Val) rs750683459 0.00001
NM_014855.3(AP5Z1):c.2231C>T (p.Ala744Val) rs776245278 0.00001
NM_014855.3(AP5Z1):c.2274G>A (p.Leu758=) rs965077399 0.00001
NM_014855.3(AP5Z1):c.2286C>T (p.Ser762=) rs542956735 0.00001
NM_014855.3(AP5Z1):c.2289G>C (p.Val763=) rs925870726 0.00001
NM_014855.3(AP5Z1):c.2345A>G (p.Asp782Gly) rs779642265 0.00001
NM_014855.3(AP5Z1):c.2367G>C (p.Leu789=) rs1405994261 0.00001
NM_014855.3(AP5Z1):c.2391G>T (p.Leu797=) rs750850551 0.00001
NM_014855.3(AP5Z1):c.2414T>C (p.Met805Thr) rs1287234215 0.00001
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val) rs372539355 0.00001
NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter) rs778457903 0.00001
NM_014855.3(AP5Z1):c.42G>A (p.Arg14=) rs1469934561 0.00001
NM_014855.3(AP5Z1):c.460C>T (p.Leu154Phe) rs759815287 0.00001
NM_014855.3(AP5Z1):c.478G>A (p.Val160Ile) rs752115827 0.00001
NM_014855.3(AP5Z1):c.49C>T (p.Gln17Ter) rs765332596 0.00001
NM_014855.3(AP5Z1):c.560C>T (p.Ala187Val) rs1325471838 0.00001
NM_014855.3(AP5Z1):c.561C>T (p.Ala187=) rs754635814 0.00001
NM_014855.3(AP5Z1):c.575G>A (p.Gly192Glu) rs752495902 0.00001
NM_014855.3(AP5Z1):c.616C>T (p.Arg206Trp) rs761451474 0.00001
NM_014855.3(AP5Z1):c.631G>A (p.Val211Ile) rs771385792 0.00001
NM_014855.3(AP5Z1):c.721C>T (p.Gln241Ter) rs751778396 0.00001
NM_014855.3(AP5Z1):c.753G>A (p.Leu251=) rs908638350 0.00001
NM_014855.3(AP5Z1):c.779C>T (p.Thr260Ile) rs894028182 0.00001
NM_014855.3(AP5Z1):c.790+7G>A rs759449685 0.00001
NM_014855.3(AP5Z1):c.791-10C>T rs760000663 0.00001
NM_014855.3(AP5Z1):c.812G>A (p.Gly271Asp) rs780846649 0.00001
NM_014855.3(AP5Z1):c.819T>G (p.Thr273=) rs1395360669 0.00001
NM_014855.3(AP5Z1):c.903C>T (p.Cys301=) rs767005823 0.00001
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter) rs376075583 0.00001
NM_014946.4(SPAST):c.1087C>T (p.Leu363=) rs769858706 0.00001
NM_014946.4(SPAST):c.1121C>T (p.Pro374Leu) rs1471030618 0.00001
NM_014946.4(SPAST):c.113C>G (p.Pro38Arg) rs1041662261 0.00001
NM_014946.4(SPAST):c.1245+12G>A rs766012036 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_014946.4(SPAST):c.1321+9A>G rs201349526 0.00001
NM_014946.4(SPAST):c.1322-18T>C rs1469260346 0.00001
NM_014946.4(SPAST):c.1365C>T (p.His455=) rs748788182 0.00001
NM_014946.4(SPAST):c.137A>G (p.His46Arg) rs778952334 0.00001
NM_014946.4(SPAST):c.157T>G (p.Phe53Val) rs200029938 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_014946.4(SPAST):c.171G>C (p.Leu57=) rs1057523187 0.00001
NM_014946.4(SPAST):c.1805A>C (p.Glu602Ala) rs776152816 0.00001
NM_014946.4(SPAST):c.1817G>A (p.Arg606His) rs768077366 0.00001
NM_014946.4(SPAST):c.20G>C (p.Arg7Pro) rs750900931 0.00001
NM_014946.4(SPAST):c.280G>C (p.Gly94Arg) rs750218565 0.00001
NM_014946.4(SPAST):c.302C>T (p.Ser101Leu) rs746263735 0.00001
NM_014946.4(SPAST):c.303G>T (p.Ser101=) rs1232419017 0.00001
NM_014946.4(SPAST):c.421C>T (p.Gln141Ter) rs1485703744 0.00001
NM_014946.4(SPAST):c.423G>A (p.Gln141=) rs753233534 0.00001
NM_014946.4(SPAST):c.488T>C (p.Ile163Thr) rs748674789 0.00001
NM_014946.4(SPAST):c.51C>G (p.Ser17Arg) rs1303074496 0.00001
NM_014946.4(SPAST):c.555G>C (p.Leu185Phe) rs377698691 0.00001
NM_014946.4(SPAST):c.626C>T (p.Thr209Met) rs537855621 0.00001
NM_014946.4(SPAST):c.630C>T (p.Asp210=) rs150444792 0.00001
NM_014946.4(SPAST):c.679T>G (p.Ser227Ala) rs762126088 0.00001
NM_014946.4(SPAST):c.742C>T (p.Arg248Cys) rs757176714 0.00001
NM_014946.4(SPAST):c.743G>A (p.Arg248His) rs201395991 0.00001
NM_014946.4(SPAST):c.80C>T (p.Pro27Leu) rs1361493550 0.00001
NM_014946.4(SPAST):c.89C>T (p.Ala30Val) rs781516235 0.00001
NM_014946.4(SPAST):c.935A>C (p.Lys312Thr) rs540279272 0.00001
NM_014946.4(SPAST):c.97C>G (p.Pro33Ala) rs1403480959 0.00001
NM_014946.4(SPAST):c.98C>T (p.Pro33Leu) rs777721232 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_015915.5(ATL1):c.1047+18G>A rs746881198 0.00001
NM_015915.5(ATL1):c.115A>G (p.Ile39Val) rs756464141 0.00001
NM_015915.5(ATL1):c.1191A>C (p.Glu397Asp) rs781773446 0.00001
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys) rs387906941 0.00001
NM_015915.5(ATL1):c.1247G>A (p.Arg416His) rs1395551564 0.00001
NM_015915.5(ATL1):c.1295A>G (p.Tyr432Cys) rs757055842 0.00001
NM_015915.5(ATL1):c.1308T>C (p.Asn436=) rs751796325 0.00001
NM_015915.5(ATL1):c.1332A>C (p.Ala444=) rs778318620 0.00001
NM_015915.5(ATL1):c.1360G>C (p.Val454Leu) rs370748757 0.00001
NM_015915.5(ATL1):c.1377T>C (p.Tyr459=) rs775045809 0.00001
NM_015915.5(ATL1):c.1414A>G (p.Ile472Val) rs374047535 0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_015915.5(ATL1):c.1501C>G (p.Arg501Gly) rs1316385532 0.00001
NM_015915.5(ATL1):c.1502G>A (p.Arg501Gln) rs374795927 0.00001
NM_015915.5(ATL1):c.1551+9A>G rs765253669 0.00001
NM_015915.5(ATL1):c.1623T>G (p.Ala541=) rs777479928 0.00001
NM_015915.5(ATL1):c.1640C>T (p.Ser547Leu) rs778692077 0.00001
NM_015915.5(ATL1):c.1641G>A (p.Ser547=) rs761099386 0.00001
NM_015915.5(ATL1):c.282+4T>C rs1337325727 0.00001
NM_015915.5(ATL1):c.300T>G (p.Val100=) rs863224772 0.00001
NM_015915.5(ATL1):c.34+4A>G rs184968459 0.00001
NM_015915.5(ATL1):c.46G>C (p.Glu16Gln) rs1223717112 0.00001
NM_015915.5(ATL1):c.483C>T (p.Ala161=) rs370173293 0.00001
NM_015915.5(ATL1):c.523-13T>C rs778508132 0.00001
NM_015915.5(ATL1):c.544G>A (p.Val182Ile) rs755214274 0.00001
NM_015915.5(ATL1):c.598G>A (p.Ala200Thr) rs1459900918 0.00001
NM_015915.5(ATL1):c.630+20T>C rs768171356 0.00001
NM_015915.5(ATL1):c.630+3G>A rs746263796 0.00001
NM_015915.5(ATL1):c.699C>T (p.Ala233=) rs1347858003 0.00001
NM_015915.5(ATL1):c.769A>G (p.Ile257Val) rs1186954818 0.00001
NM_015915.5(ATL1):c.873T>C (p.Asp291=) rs1302048030 0.00001
NM_015915.5(ATL1):c.921C>T (p.Pro307=) rs535790981 0.00001
NM_015915.5(ATL1):c.922G>A (p.Glu308Lys) rs773401705 0.00001
NM_015915.5(ATL1):c.927C>T (p.Ser309=) rs2039459083 0.00001
NM_015915.5(ATL1):c.953A>T (p.Asn318Ile) rs770538531 0.00001
NM_015915.5(ATL1):c.997A>G (p.Ile333Val) rs749993404 0.00001
NM_016630.7(SPG21):c.102C>G (p.Leu34=) rs763037150 0.00001
NM_016630.7(SPG21):c.119dup (p.Ser41fs) rs1332886505 0.00001
NM_016630.7(SPG21):c.390C>T (p.Ser130=) rs1170624847 0.00001
NM_016630.7(SPG21):c.404A>G (p.Asn135Ser) rs374212037 0.00001
NM_016630.7(SPG21):c.453-3C>T rs958910728 0.00001
NM_016630.7(SPG21):c.516G>A (p.Pro172=) rs774744618 0.00001
NM_016630.7(SPG21):c.526A>G (p.Met176Val) rs786204161 0.00001
NM_016630.7(SPG21):c.569G>A (p.Ser190Asn) rs899108970 0.00001
NM_016630.7(SPG21):c.597A>G (p.Arg199=) rs1246614782 0.00001
NM_016630.7(SPG21):c.601dup (p.Thr201fs) rs387906275 0.00001
NM_016630.7(SPG21):c.736C>T (p.Arg246Ter) rs369957508 0.00001
NM_016630.7(SPG21):c.810+3A>G rs751245316 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.3235+15G>A rs761031832 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.4109del (p.Asp1370fs) rs1259332141 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.805G>A (p.Asp269Asn) rs759231633 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_144599.5(NIPA1):c.154G>A (p.Gly52Ser) rs1382408147 0.00001
NM_144599.5(NIPA1):c.222C>G (p.Ile74Met) rs778472114 0.00001
NM_144599.5(NIPA1):c.267G>A (p.Ala89=) rs751391752 0.00001
NM_144599.5(NIPA1):c.275C>T (p.Thr92Met) rs765306724 0.00001
NM_144599.5(NIPA1):c.292C>T (p.Leu98=) rs1235395631 0.00001
NM_144599.5(NIPA1):c.324T>C (p.Ile108=) rs748004567 0.00001
NM_144599.5(NIPA1):c.399C>T (p.Ser133=) rs374424039 0.00001
NM_144599.5(NIPA1):c.479-7G>T rs758551462 0.00001
NM_144599.5(NIPA1):c.479-9G>A rs1566789035 0.00001
NM_144599.5(NIPA1):c.662C>T (p.Pro221Leu) rs781753198 0.00001
NM_144599.5(NIPA1):c.726C>T (p.Ile242=) rs143840469 0.00001
NM_144599.5(NIPA1):c.727G>C (p.Val243Leu) rs775960315 0.00001
NM_144599.5(NIPA1):c.798C>T (p.Val266=) rs1008907564 0.00001
NM_144599.5(NIPA1):c.810G>A (p.Thr270=) rs138394129 0.00001
NM_144599.5(NIPA1):c.841C>T (p.Arg281Trp) rs1011104387 0.00001
NM_144599.5(NIPA1):c.928G>A (p.Val310Met) rs1162539945 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.(?_112318699)_(115576848_?)del
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.(?_113895055)_(113900410_?)dup
NC_000001.11:g.(?_16991714)_(16992601_?)del
NC_000002.11:g.(?_238233417)_(242800990_?)dup
NC_000002.11:g.(?_238233417)_(242801596_?)del
NC_000002.11:g.(?_241656761)_(241663473_?)dup
NC_000002.11:g.(?_241656761)_(241702528_?)dup
NC_000002.11:g.(?_241656761)_(241709143_?)del
NC_000002.11:g.(?_241656771)_(241666367_?)dup
NC_000002.11:g.(?_241656771)_(241709123_?)dup
NC_000002.11:g.(?_241656771)_(241709133_?)dup
NC_000002.11:g.(?_241656771)_241759735del
NC_000002.11:g.(?_241656781)_(241686758_?)dup
NC_000002.11:g.(?_241656781)_(241689984_?)dup
NC_000002.11:g.(?_241656781)_(241709133_?)dup
NC_000002.11:g.(?_241656781)_(241709143_?)dup
NC_000002.11:g.(?_241656781)_(241728749_?)del
NC_000002.11:g.(?_241676460)_(241686758_?)del
NC_000002.11:g.(?_241676460)_(241818238_?)dup
NC_000002.11:g.(?_241676470)_(241709133_?)dup
NC_000002.11:g.(?_241679455)_(241818238_?)dup
NC_000002.11:g.(?_241679465)_(241737179_?)dup
NC_000002.11:g.(?_241696754)_(241737169_?)dup
NC_000002.11:g.(?_241702563)_(241710541_?)dup
NC_000002.11:g.(?_241721987)_(241722546_?)dup
NC_000002.11:g.(?_31558824)_(32481844_?)dup
NC_000002.11:g.(?_32272227)_(32289220_?)del
NC_000002.11:g.(?_32288891)_(32341291_?)del
NC_000002.11:g.(?_32288901)_(32289335_?)del
NC_000002.11:g.(?_32288901)_(32289335_?)dup
NC_000002.11:g.(?_32288901)_(32323980_?)del
NC_000002.11:g.(?_32288901)_(32339914_?)dup
NC_000002.11:g.(?_32288901)_(32341301_?)del
NC_000002.11:g.(?_32288901)_(32362277_?)dup
NC_000002.11:g.(?_32288901)_(32379565_?)del
NC_000002.11:g.(?_32312541)_(32341301_?)del
NC_000002.11:g.(?_32314571)_(32314694_?)del
NC_000002.11:g.(?_32314571)_(32341301_?)del
NC_000002.11:g.(?_32323845)_(32352111_?)del
NC_000002.11:g.(?_32339687)_(32339914_?)del
NC_000002.11:g.(?_32339687)_(32341301_?)del
NC_000002.11:g.(?_32339687)_(32341301_?)dup
NC_000002.11:g.(?_32339687)_(32372347_?)dup
NC_000002.11:g.(?_32339687)_(32379565_?)del
NC_000002.11:g.(?_32339687)_(32379565_?)dup
NC_000002.11:g.(?_32339697)_(32379575_?)del
NC_000002.11:g.(?_32351997)_(32362277_?)del
NC_000002.11:g.(?_32351997)_(32379565_?)del
NC_000002.11:g.(?_32351997)_(32379565_?)dup
NC_000002.11:g.(?_32352007)_(32353558_?)dup
NC_000002.11:g.(?_32352275)_(32353547_?)del
NC_000002.11:g.(?_32353457)_(32353568_?)del
NC_000002.11:g.(?_32353457)_(32353568_?)dup
NC_000002.11:g.(?_32358030)_(32362241_?)del
NC_000002.11:g.(?_32361612)_(32367035_?)dup
NC_000002.11:g.(?_32361622)_(32379575_?)del
NC_000002.11:g.(?_32366953)_(32368504_?)dup
NC_000002.11:g.(?_32366953)_(32370096_?)del
NC_000002.11:g.(?_32366953)_(32370096_?)dup
NC_000002.11:g.(?_32366953)_(32372347_?)del
NC_000002.11:g.(?_32366967)_(32372333_?)del
NC_000002.11:g.(?_32368385)_(32368504_?)del
NC_000002.11:g.(?_32368385)_(32370096_?)del
NC_000002.11:g.(?_32370032)_(32371757_?)del
NC_000002.11:g.(?_32372267)_(32372347_?)del
NC_000002.11:g.(?_32379423)_(32379565_?)del
NC_000002.11:g.(?_32379423)_(32379565_?)dup
NC_000002.11:g.(?_85766411)_(86564633_?)del
NC_000002.11:g.(?_86441116)_(86509365_?)dup
NC_000002.11:g.(?_86444152)_(86444243_?)del
NC_000002.11:g.(?_86444152)_(86509375_?)dup
NC_000002.11:g.(?_86444152)_(86564643_?)del
NC_000002.11:g.(?_86444223)_(86444253_?)del
NC_000002.11:g.(?_86444223)_(86509385_?)dup
NC_000002.11:g.(?_86459728)_(86459945_?)del
NC_000002.11:g.(?_86479060)_(86481957_?)del
NC_000002.11:g.(?_86479060)_(86509385_?)dup
NC_000002.11:g.(?_86509273)_(86564633_?)del
NC_000002.12:g.(?_240717364)_(240797752_?)del
NC_000002.12:g.(?_32063611)_(32064246_?)del
NC_000002.12:g.(?_32063812)_(32064266_?)del
NC_000002.12:g.(?_32063812)_(32116232_?)del
NC_000002.12:g.(?_32063812)_(32154516_?)del
NC_000002.12:g.(?_32063822)_(32064256_?)del
NC_000002.12:g.(?_32063822)_(32089615_?)del
NC_000002.12:g.(?_32063822)_(32154506_?)del
NC_000002.12:g.(?_32063826)_(32087584_?)del
NC_000002.12:g.(?_32063826)_(32098897_?)del
NC_000002.12:g.(?_32087482)_(32116222_?)del
NC_000002.12:g.(?_32098786)_(32116222_?)del
NC_000002.12:g.(?_32114618)_(32128499_?)del
NC_000002.12:g.(?_32114618)_(32147278_?)del
NC_000002.12:g.(?_32114628)_(32114835_?)del
NC_000002.12:g.(?_32114628)_(32116222_?)dup
NC_000002.12:g.(?_32114638)_(32157637_?)del
NC_000002.12:g.(?_32126928)_(32128499_?)del
NC_000002.12:g.(?_32126938)_(32128489_?)del
NC_000002.12:g.(?_32126938)_(32154506_?)del
NC_000002.12:g.(?_32136543)_(32137208_?)del
NC_000002.12:g.(?_32136543)_(32147278_?)del
NC_000002.12:g.(?_32136553)_(32136648_?)del
NC_000002.12:g.(?_32136553)_(32137198_?)del
NC_000002.12:g.(?_32143325)_(32147268_?)del
NC_000002.12:g.(?_32144927)_(32154506_?)del
NC_000002.12:g.(?_32147208)_(32147268_?)dup
NC_000002.12:g.(?_32154364)_(32154506_?)del
NC_000002.12:g.(?_86217019)_(86217130_?)del
NC_000002.12:g.(?_86217029)_(86232812_?)del
NC_000002.12:g.(?_86251947)_(86254824_?)del
NC_000002.12:g.(?_86263945)_(86264061_?)del
NC_000002.12:g.(?_86337469)_(86337520_?)del
NC_000002.12:g.32136563dup
NC_000002.12:g.32141904del rs2148758232
NC_000002.12:g.32154379_32154380insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAAATCTAGATGAGA
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_000007.13:g.(?_4816199)_4825153del
NC_000007.13:g.(?_99699407)_(99704283_?)del
NC_000007.13:g.(?_99703861)_(99704170_?)del
NC_000007.14:g.(?_4788154)_(4794395_?)del
NC_000008.10:g.(?_126036859)_(126379127_?)dup
NC_000008.10:g.(?_126049459)_(126075913_?)del
NC_000008.10:g.(?_126079753)_(126096155_?)del
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.(?_125024607)_(125044104_?)del
NC_000008.11:g.(?_38242230)_(38247855_?)del
NC_000010.10:g.(?_101915882)_(101927183_?)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_000014.8:g.(?_51026974)_(51099067_?)dup
NC_000014.8:g.(?_51026984)_(51081249_?)dup
NC_000014.8:g.(?_51026984)_(51099057_?)dup
NC_000014.8:g.(?_51087297)_(51095200_?)del
NC_000014.8:g.(?_51087297)_(51099057_?)del
NC_000014.8:g.(?_51087297)_(51099077_?)dup
NC_000014.8:g.(?_53513486)_(54418940_?)dup
NC_000014.9:g.(?_102376712)_(102376950_?)del
NC_000014.9:g.(?_102407328)_(102450659_?)dup
NC_000014.9:g.(?_102465131)_(102465314_?)dup
NC_000014.9:g.(?_50560256)_(50632349_?)del
NC_000014.9:g.(?_50590931)_(50632349_?)del
NC_000014.9:g.(?_50613249)_(50632349_?)dup
NC_000015.10:g.(?_22786632)_(22829789_?)del
NC_000015.10:g.(?_22786637)_(22812273_?)del
NC_000015.10:g.(?_22786637)_(22824259_?)del
NC_000015.10:g.(?_22786647)_(22824249_?)del
NC_000015.10:g.(?_22786657)_(23032029_?)del
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.(?_23006221)_(23086411_?)del
NC_000015.9:g.(?_23006221)_(23086411_?)dup
NC_000015.9:g.(?_23021178)_(23049360_?)dup
NC_000015.9:g.(?_23043279)_(23086436_?)dup
NC_000015.9:g.(?_23048819)_(23086421_?)dup
NC_000015.9:g.(?_23048829)_(23052755_?)del
NC_000015.9:g.(?_23086214)_(23086411_?)del
NC_000015.9:g.(?_23086214)_(23086411_?)dup
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_000015.9:g.(?_50731261)_(50791295_?)dup
NC_000015.9:g.(?_50789266)_(50791305_?)dup
NC_000016.10:g.(?_89508408)_(89508610_?)del
NC_000016.10:g.(?_89508408)_(89532646_?)dup
NC_000016.10:g.(?_89510480)_(89513047_?)del
NC_000016.10:g.(?_89529457)_(89529599_?)del
NC_000016.9:g.(?_18804554)_(18812808_?)dup
NC_000016.9:g.(?_89556653)_(89623501_?)del
NC_000016.9:g.(?_89574826)_(89575028_?)del
NC_000016.9:g.(?_89574826)_(89577020_?)del
NC_000016.9:g.(?_89574826)_(89579465_?)del
NC_000016.9:g.(?_89574826)_(89583809_?)dup
NC_000016.9:g.(?_89574826)_(89597236_?)del
NC_000016.9:g.(?_89574826)_(89623501_?)dup
NC_000016.9:g.(?_89576878)_(89577020_?)del
NC_000016.9:g.(?_89576878)_(89579465_?)del
NC_000016.9:g.(?_89576878)_(89579465_?)dup
NC_000016.9:g.(?_89579336)_(89579465_?)del
NC_000016.9:g.(?_89583809)_(89613188_?)dup
NC_000016.9:g.(?_89590394)_(89599064_?)del
NC_000016.9:g.(?_89595875)_(89595997_?)del
NC_000016.9:g.(?_89613046)_(89617037_?)del
NC_000016.9:g.(?_89614405)_(89617023_?)del
NC_000016.9:g.(?_89619367)_(89619563_?)del
NC_000016.9:g.(?_89619467)_(89620817_?)del
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.(?_50195510)_(50195670_?)dup
NC_000019.9:g.(?_50213557)_(50214134_?)del
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
NC_000023.10:g.(?_102831398)_(103220942_?)dup
NC_000023.10:g.(?_103031003)_(103031929_?)del
NC_000023.10:g.(?_103031754)_(103047548_?)dup
NC_000023.10:g.(?_103031893)_(103045536_?)dup
NC_000023.10:g.(?_103031893)_(103045546_?)del
NC_000023.10:g.(?_103031893)_(103045546_?)dup
NC_000023.10:g.(?_103031918)_(103045531_?)dup
NC_000023.10:g.(?_103031924)_(103040717_?)dup
NC_000023.10:g.(?_103031924)_(103044347_?)dup
NC_000023.10:g.(?_103031924)_(103045526_?)del
NC_000023.10:g.(?_103031924)_(103045526_?)dup
NC_000023.10:g.(?_103040922)_(103042832_?)del
NC_000023.10:g.(?_103042707)_(103045526_?)del
NC_000023.10:g.(?_103045435)_(103045526_?)dup
NM_000533.5(PLP1):c.101G>T (p.Gly34Val)
NM_000533.5(PLP1):c.116C>A (p.Ala39Asp)
NM_000533.5(PLP1):c.120C>G (p.Leu40=)
NM_000533.5(PLP1):c.120C>T (p.Leu40=)
NM_000533.5(PLP1):c.123T>G (p.Thr41=)
NM_000533.5(PLP1):c.12A>G (p.Leu4=)
NM_000533.5(PLP1):c.138A>G (p.Leu46=)
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) rs1060500909
NM_000533.5(PLP1):c.141T>C (p.Ile47=)
NM_000533.5(PLP1):c.142_152del (p.Glu48fs)
NM_000533.5(PLP1):c.157A>C (p.Lys53Gln) rs2074490089
NM_000533.5(PLP1):c.169G>A (p.Asp57Asn)
NM_000533.5(PLP1):c.176_177dup (p.Tyr60fs)
NM_000533.5(PLP1):c.180T>G (p.Tyr60Ter)
NM_000533.5(PLP1):c.191+19A>G rs746599075
NM_000533.5(PLP1):c.191+19A>T
NM_000533.5(PLP1):c.192-10G>A
NM_000533.5(PLP1):c.192-19T>A rs1186006578
NM_000533.5(PLP1):c.192-9T>A
NM_000533.5(PLP1):c.194T>A (p.Ile65Asn) rs1191076247
NM_000533.5(PLP1):c.198T>C (p.His66=)
NM_000533.5(PLP1):c.1A>G (p.Met1Val) rs797045064
NM_000533.5(PLP1):c.1_2del (p.Met1fs)
NM_000533.5(PLP1):c.205C>T (p.Gln69Ter) rs2147764198
NM_000533.5(PLP1):c.206A>C (p.Gln69Pro)
NM_000533.5(PLP1):c.220G>T (p.Gly74Ter)
NM_000533.5(PLP1):c.232TTC[2] (p.Phe80del) rs2074497991
NM_000533.5(PLP1):c.237C>T (p.Phe79=)
NM_000533.5(PLP1):c.248G>A (p.Gly83Glu)
NM_000533.5(PLP1):c.251C>A (p.Ala84Asp)
NM_000533.5(PLP1):c.259C>T (p.Leu87=)
NM_000533.5(PLP1):c.261G>A (p.Leu87=)
NM_000533.5(PLP1):c.267G>A (p.Glu89=)
NM_000533.5(PLP1):c.270C>T (p.Gly90=)
NM_000533.5(PLP1):c.279C>A (p.Thr93=)
NM_000533.5(PLP1):c.279C>T (p.Thr93=)
NM_000533.5(PLP1):c.282C>T (p.Thr94=)
NM_000533.5(PLP1):c.291C>G (p.Val97=) rs2147764368
NM_000533.5(PLP1):c.2T>C (p.Met1Thr) rs864622194
NM_000533.5(PLP1):c.30T>C (p.Cys10=)
NM_000533.5(PLP1):c.312C>T (p.Tyr104=)
NM_000533.5(PLP1):c.327C>T (p.Cys109=)
NM_000533.5(PLP1):c.336C>T (p.Gly112=)
NM_000533.5(PLP1):c.345A>G (p.Ala115=)
NM_000533.5(PLP1):c.354_355del (p.Gly120fs) rs1556267123
NM_000533.5(PLP1):c.357G>C (p.Gly119=) rs1444031037
NM_000533.5(PLP1):c.361C>T (p.Gln121Ter)
NM_000533.5(PLP1):c.374dup (p.Ser126fs)
NM_000533.5(PLP1):c.378C>T (p.Ser126=)
NM_000533.5(PLP1):c.380G>C (p.Arg127Thr) rs1556267201
NM_000533.5(PLP1):c.388C>A (p.His130Asn)
NM_000533.5(PLP1):c.388C>T (p.His130Tyr) rs878853076
NM_000533.5(PLP1):c.39G>C (p.Gly13=)
NM_000533.5(PLP1):c.3G>A (p.Met1Ile) rs132630290
NM_000533.5(PLP1):c.4+16T>C
NM_000533.5(PLP1):c.4+1G>A rs2147752783
NM_000533.5(PLP1):c.4+1G>T
NM_000533.5(PLP1):c.4+1del rs1602373055
NM_000533.5(PLP1):c.4+4A>C
NM_000533.5(PLP1):c.401C>T (p.Ser134Phe) rs1569427673
NM_000533.5(PLP1):c.406G>T (p.Glu136Ter)
NM_000533.5(PLP1):c.408G>A (p.Glu136=)
NM_000533.5(PLP1):c.409C>G (p.Arg137Gly)
NM_000533.5(PLP1):c.409C>T (p.Arg137Trp) rs132630295
NM_000533.5(PLP1):c.415_418delinsAGT (p.Cys139fs) rs1556267287
NM_000533.5(PLP1):c.416_417del (p.Cys139fs) rs2147764567
NM_000533.5(PLP1):c.426G>A (p.Leu142=)
NM_000533.5(PLP1):c.428del (p.Gly143fs) rs2147764596
NM_000533.5(PLP1):c.434G>A (p.Trp145Ter) rs132630292
NM_000533.5(PLP1):c.435G>A (p.Trp145Ter)
NM_000533.5(PLP1):c.43C>T (p.Pro15Ser)
NM_000533.5(PLP1):c.441A>C (p.Gly147=) rs1602383021
NM_000533.5(PLP1):c.441A>T (p.Gly147=) rs1602383021
NM_000533.5(PLP1):c.442C>T (p.His148Tyr) rs2147764634
NM_000533.5(PLP1):c.446C>T (p.Pro149Leu)
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu) rs11543022
NM_000533.5(PLP1):c.453+16A>G
NM_000533.5(PLP1):c.453+1G>T rs113345335
NM_000533.5(PLP1):c.453+37G>T rs2074500948
NM_000533.5(PLP1):c.453+43G>A
NM_000533.5(PLP1):c.453+43del
NM_000533.5(PLP1):c.453+44A>G
NM_000533.5(PLP1):c.453+8T>C
NM_000533.5(PLP1):c.453+9C>T
NM_000533.5(PLP1):c.453G>A (p.Lys151=) rs886044450
NM_000533.5(PLP1):c.454-15T>C
NM_000533.5(PLP1):c.454-16A>C
NM_000533.5(PLP1):c.454-16A>G
NM_000533.5(PLP1):c.454-314T>G rs2074506871
NM_000533.5(PLP1):c.460G>A (p.Gly154Ser)
NM_000533.5(PLP1):c.464T>A (p.Ile155Asn) rs2147765890
NM_000533.5(PLP1):c.475C>T (p.Leu159=)
NM_000533.5(PLP1):c.480C>T (p.Thr160=)
NM_000533.5(PLP1):c.485T>C (p.Val162Ala) rs1556268920
NM_000533.5(PLP1):c.486G>A (p.Val162=)
NM_000533.5(PLP1):c.489G>A (p.Trp163Ter) rs1602384101
NM_000533.5(PLP1):c.489G>C (p.Trp163Cys)
NM_000533.5(PLP1):c.49G>A (p.Ala17Thr) rs797045890
NM_000533.5(PLP1):c.5-10T>A rs1297211772
NM_000533.5(PLP1):c.5-12C>T
NM_000533.5(PLP1):c.5-13dup
NM_000533.5(PLP1):c.5-14T>C
NM_000533.5(PLP1):c.5-15C>G
NM_000533.5(PLP1):c.5-16C>A
NM_000533.5(PLP1):c.5-17C>T
NM_000533.5(PLP1):c.5-1G>A
NM_000533.5(PLP1):c.5-6C>T
NM_000533.5(PLP1):c.5-8T>C
NM_000533.5(PLP1):c.5-9C>G
NM_000533.5(PLP1):c.522G>A (p.Val174=)
NM_000533.5(PLP1):c.531C>T (p.Tyr177=)
NM_000533.5(PLP1):c.533T>G (p.Phe178Cys)
NM_000533.5(PLP1):c.541T>G (p.Trp181Gly)
NM_000533.5(PLP1):c.546C>T (p.Thr182=)
NM_000533.5(PLP1):c.548C>A (p.Thr183Asn) rs2147766068
NM_000533.5(PLP1):c.553C>T (p.Gln185Ter)
NM_000533.5(PLP1):c.560T>C (p.Ile187Thr) rs132630288
NM_000533.5(PLP1):c.560T>G (p.Ile187Ser) rs132630288
NM_000533.5(PLP1):c.564C>T (p.Ala188=)
NM_000533.5(PLP1):c.578C>A (p.Thr193Asn)
NM_000533.5(PLP1):c.583G>T (p.Ala195Ser)
NM_000533.5(PLP1):c.584C>T (p.Ala195Val)
NM_000533.5(PLP1):c.586A>G (p.Ser196Gly)
NM_000533.5(PLP1):c.588dup (p.Ile197fs)
NM_000533.5(PLP1):c.597T>C (p.Ser199=)
NM_000533.5(PLP1):c.5G>A (p.Gly2Asp)
NM_000533.5(PLP1):c.608A>G (p.Asp203Gly)
NM_000533.5(PLP1):c.614G>A (p.Arg205Lys) rs2147766283
NM_000533.5(PLP1):c.615A>G (p.Arg205=)
NM_000533.5(PLP1):c.622+8A>G
NM_000533.5(PLP1):c.623-13G>T
NM_000533.5(PLP1):c.623-19C>T
NM_000533.5(PLP1):c.634T>C (p.Trp212Arg) rs2147766937
NM_000533.5(PLP1):c.63C>T (p.Ala21=)
NM_000533.5(PLP1):c.642T>C (p.Ala214=)
NM_000533.5(PLP1):c.647C>T (p.Pro216Leu) rs2147766958
NM_000533.5(PLP1):c.649G>A (p.Gly217Ser) rs2147766965
NM_000533.5(PLP1):c.651C>T (p.Gly217=)
NM_000533.5(PLP1):c.661G>A (p.Gly221Ser) rs132630286
NM_000533.5(PLP1):c.669C>A (p.Asn223Lys)
NM_000533.5(PLP1):c.669C>G (p.Asn223Lys)
NM_000533.5(PLP1):c.669C>T (p.Asn223=)
NM_000533.5(PLP1):c.670C>T (p.Leu224Phe)
NM_000533.5(PLP1):c.671T>C (p.Leu224Pro) rs132630283
NM_000533.5(PLP1):c.674T>C (p.Leu225Pro)
NM_000533.5(PLP1):c.676T>C (p.Ser226Pro)
NM_000533.5(PLP1):c.680T>A (p.Ile227Asn)
NM_000533.5(PLP1):c.689C>G (p.Thr230Arg) rs1556270495
NM_000533.5(PLP1):c.696+17G>T
NM_000533.5(PLP1):c.696+1G>A rs113897548
NM_000533.5(PLP1):c.696+3G>A
NM_000533.5(PLP1):c.697-12A>C
NM_000533.5(PLP1):c.697-12A>G
NM_000533.5(PLP1):c.697-1G>A
NM_000533.5(PLP1):c.697-3C>T
NM_000533.5(PLP1):c.698T>C (p.Phe233Ser)
NM_000533.5(PLP1):c.701A>T (p.Gln234Leu) rs1060500908
NM_000533.5(PLP1):c.708C>T (p.Thr236=)
NM_000533.5(PLP1):c.712_713insTGCAGTTCCAAATG (p.His238fs) rs1602385672
NM_000533.5(PLP1):c.734T>A (p.Val245Glu) rs2147768009
NM_000533.5(PLP1):c.735G>C (p.Val245=)
NM_000533.5(PLP1):c.735G>T (p.Val245=)
NM_000533.5(PLP1):c.736G>A (p.Gly246Arg) rs2147768028
NM_000533.5(PLP1):c.736G>C (p.Gly246Arg)
NM_000533.5(PLP1):c.737G>C (p.Gly246Ala) rs398123467
NM_000533.5(PLP1):c.744A>T (p.Ala248=)
NM_000533.5(PLP1):c.762+5G>A
NM_000533.5(PLP1):c.762+9A>G
NM_000533.5(PLP1):c.763-16C>T
NM_000533.5(PLP1):c.763-17_763-14del rs2147769185
NM_000533.5(PLP1):c.766A>C (p.Thr256Pro)
NM_000533.5(PLP1):c.785C>G (p.Thr262Ser) rs2074536435
NM_000533.5(PLP1):c.788A>G (p.Tyr263Cys) rs2074536482
NM_000533.5(PLP1):c.788_794del (p.Tyr263fs) rs2147769222
NM_000533.5(PLP1):c.795T>C (p.Phe265=)
NM_000533.5(PLP1):c.798C>T (p.Ala266=)
NM_000533.5(PLP1):c.801C>T (p.Val267=)
NM_000533.5(PLP1):c.834A>T (p.Ter278Cys)
NM_000533.5(PLP1):c.85G>T (p.Val29Leu) rs1376158201
NM_000533.5(PLP1):c.95T>C (p.Phe32Ser)
NM_000533.5(PLP1):c.98G>T (p.Cys33Phe) rs1064794255
NM_000533.5(PLP1):c.99T>C (p.Cys33=)
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.110G>T (p.Ser37Ile)
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.159G>A (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.172C>T (p.Leu58=)
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.255C>T (p.Ala85=)
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.287A>G (p.Tyr96Cys)
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>G (p.Tyr113Ter)
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.342-14CT[2]
NM_001010867.4(IBA57):c.342-15C>T
NM_001010867.4(IBA57):c.342-488_361del
NM_001010867.4(IBA57):c.342-4_342-3delinsAA
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.420C>T (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.435C>A (p.Ile145=)
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.576A>C (p.Ala192=)
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.633C>T (p.Gly211=)
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.78C>T (p.Ala26=)
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.988C>T (p.Pro330Ser)
NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg) rs918873125
NM_001010867.4(IBA57):c.996C>T (p.His332=)
NM_001031726.3(C19orf12):c.199dup rs398122409
NM_001160148.2(DDHD1):c.1012+17C>A
NM_001160148.2(DDHD1):c.1012+645C>T rs1595179182
NM_001160148.2(DDHD1):c.1012+661A>G
NM_001160148.2(DDHD1):c.1012+664T>C
NM_001160148.2(DDHD1):c.1012+665G>A
NM_001160148.2(DDHD1):c.1015G>A (p.Val339Ile)
NM_001160148.2(DDHD1):c.1044dup (p.Val349fs) rs1886604612
NM_001160148.2(DDHD1):c.1056C>T (p.His352=) rs145960430
NM_001160148.2(DDHD1):c.1069G>A (p.Val357Ile)
NM_001160148.2(DDHD1):c.110G>C (p.Gly37Ala) rs553631939
NM_001160148.2(DDHD1):c.1116T>G (p.Val372=) rs1886597944
NM_001160148.2(DDHD1):c.1119C>T (p.Thr373=) rs557024302
NM_001160148.2(DDHD1):c.111C>T (p.Gly37=)
NM_001160148.2(DDHD1):c.1141+13T>C
NM_001160148.2(DDHD1):c.1141+14A>C
NM_001160148.2(DDHD1):c.1141+20A>C
NM_001160148.2(DDHD1):c.1142-3C>T rs1595159763
NM_001160148.2(DDHD1):c.1142-7T>C rs748714439
NM_001160148.2(DDHD1):c.1143A>G (p.Ala381=)
NM_001160148.2(DDHD1):c.1161A>T (p.Arg387Ser) rs1312004804
NM_001160148.2(DDHD1):c.1167T>C (p.His389=)
NM_001160148.2(DDHD1):c.1217C>T (p.Thr406Ile)
NM_001160148.2(DDHD1):c.1218C>A (p.Thr406=)
NM_001160148.2(DDHD1):c.1239T>C (p.His413=)
NM_001160148.2(DDHD1):c.1241G>A (p.Gly414Asp) rs762316191
NM_001160148.2(DDHD1):c.126G>A (p.Glu42=)
NM_001160148.2(DDHD1):c.1289+13_1289+24del
NM_001160148.2(DDHD1):c.1289+19G>T
NM_001160148.2(DDHD1):c.1290-13T>A
NM_001160148.2(DDHD1):c.1292T>C (p.Met431Thr)
NM_001160148.2(DDHD1):c.130C>T (p.Leu44=) rs1595289971
NM_001160148.2(DDHD1):c.1342A>G (p.Thr448Ala) rs1884727925
NM_001160148.2(DDHD1):c.1349T>C (p.Val450Ala)
NM_001160148.2(DDHD1):c.136G>T (p.Gly46Cys) rs61985140
NM_001160148.2(DDHD1):c.1371G>A (p.Trp457Ter)
NM_001160148.2(DDHD1):c.1378A>C (p.Lys460Gln)
NM_001160148.2(DDHD1):c.1385C>G (p.Thr462Ser)
NM_001160148.2(DDHD1):c.138C>T (p.Gly46=)
NM_001160148.2(DDHD1):c.1396+14A>C
NM_001160148.2(DDHD1):c.1396+20G>T
NM_001160148.2(DDHD1):c.1397-10G>T rs745641472
NM_001160148.2(DDHD1):c.1397-10_1397-7del rs759422578
NM_001160148.2(DDHD1):c.1397-5del rs752225098
NM_001160148.2(DDHD1):c.1397-9T>G
NM_001160148.2(DDHD1):c.1400C>T (p.Thr467Ile)
NM_001160148.2(DDHD1):c.1402G>T (p.Val468Phe)
NM_001160148.2(DDHD1):c.1426G>A (p.Val476Ile)
NM_001160148.2(DDHD1):c.1448T>C (p.Leu483Pro) rs2139912886
NM_001160148.2(DDHD1):c.1462A>G (p.Met488Val)
NM_001160148.2(DDHD1):c.1473del (p.Met491fs)
NM_001160148.2(DDHD1):c.1474T>G (p.Tyr492Asp)
NM_001160148.2(DDHD1):c.1479T>C (p.Tyr493=)
NM_001160148.2(DDHD1):c.1503+18C>T
NM_001160148.2(DDHD1):c.1503+3_1503+6del rs1884601191
NM_001160148.2(DDHD1):c.1503+7G>C
NM_001160148.2(DDHD1):c.1521G>A (p.Gln507=)
NM_001160148.2(DDHD1):c.1527G>A (p.Glu509=)
NM_001160148.2(DDHD1):c.1551C>T (p.Phe517=) rs1883742047
NM_001160148.2(DDHD1):c.1569C>G (p.Asp523Glu)
NM_001160148.2(DDHD1):c.1583G>T (p.Gly528Val)
NM_001160148.2(DDHD1):c.163C>G (p.Pro55Ala) rs1891566193
NM_001160148.2(DDHD1):c.1656A>G (p.Pro552=)
NM_001160148.2(DDHD1):c.16C>T (p.Arg6Cys) rs1367342869
NM_001160148.2(DDHD1):c.1709G>A (p.Arg570Gln) rs114715404
NM_001160148.2(DDHD1):c.1714A>G (p.Met572Val)
NM_001160148.2(DDHD1):c.1729C>T (p.Arg577Ter)
NM_001160148.2(DDHD1):c.1738C>T (p.Leu580Phe)
NM_001160148.2(DDHD1):c.1751A>G (p.Tyr584Cys)
NM_001160148.2(DDHD1):c.1758T>A (p.Thr586=) rs4898778
NM_001160148.2(DDHD1):c.1758T>C (p.Thr586=) rs4898778
NM_001160148.2(DDHD1):c.1765C>T (p.Arg589Trp)
NM_001160148.2(DDHD1):c.1766+9T>C
NM_001160148.2(DDHD1):c.1767-7T>C
NM_001160148.2(DDHD1):c.1780GAA[1] (p.Glu595del) rs772636180
NM_001160148.2(DDHD1):c.1786C>T (p.Arg596Trp)
NM_001160148.2(DDHD1):c.1787G>A (p.Arg596Gln)
NM_001160148.2(DDHD1):c.1791T>C (p.Leu597=)
NM_001160148.2(DDHD1):c.1795G>A (p.Gly599Arg)
NM_001160148.2(DDHD1):c.179G>A (p.Arg60His)
NM_001160148.2(DDHD1):c.1842+13C>T
NM_001160148.2(DDHD1):c.1842+6_1842+10del rs1383634209
NM_001160148.2(DDHD1):c.184del (p.Glu62fs)
NM_001160148.2(DDHD1):c.187C>A (p.Pro63Thr)
NM_001160148.2(DDHD1):c.187C>G (p.Pro63Ala)
NM_001160148.2(DDHD1):c.1880T>C (p.Val627Ala) rs1595096181
NM_001160148.2(DDHD1):c.189C>G (p.Pro63=)
NM_001160148.2(DDHD1):c.18C>T (p.Arg6=)
NM_001160148.2(DDHD1):c.1903C>T (p.Arg635Cys)
NM_001160148.2(DDHD1):c.1905C>T (p.Arg635=)
NM_001160148.2(DDHD1):c.1942A>G (p.Arg648Gly)
NM_001160148.2(DDHD1):c.1958G>A (p.Arg653Gln)
NM_001160148.2(DDHD1):c.1979C>G (p.Pro660Arg)
NM_001160148.2(DDHD1):c.1992+11A>G
NM_001160148.2(DDHD1):c.1992+8G>T
NM_001160148.2(DDHD1):c.1993-19T>A
NM_001160148.2(DDHD1):c.1993-19dup rs755741246
NM_001160148.2(DDHD1):c.1993-20A>T
NM_001160148.2(DDHD1):c.1993-3A>G
NM_001160148.2(DDHD1):c.1993-6dup
NM_001160148.2(DDHD1):c.1993-8A>T
NM_001160148.2(DDHD1):c.1993-9T>A rs1314546219
NM_001160148.2(DDHD1):c.1993-9del rs755741246
NM_001160148.2(DDHD1):c.1996del (p.Tyr666fs)
NM_001160148.2(DDHD1):c.2022A>G (p.Lys674=)
NM_001160148.2(DDHD1):c.2051T>C (p.Ile684Thr)
NM_001160148.2(DDHD1):c.207G>T (p.Pro69=)
NM_001160148.2(DDHD1):c.2087A>G (p.Glu696Gly)
NM_001160148.2(DDHD1):c.2097G>C (p.Lys699Asn)
NM_001160148.2(DDHD1):c.2123A>T (p.Glu708Val)
NM_001160148.2(DDHD1):c.2166A>G (p.Pro722=) rs2139839870
NM_001160148.2(DDHD1):c.2167A>G (p.Ser723Gly) rs2139839860
NM_001160148.2(DDHD1):c.2194C>T (p.Arg732Cys)
NM_001160148.2(DDHD1):c.2211A>C (p.Glu737Asp) rs2139839642
NM_001160148.2(DDHD1):c.222C>T (p.His74=)
NM_001160148.2(DDHD1):c.2239A>G (p.Ile747Val)
NM_001160148.2(DDHD1):c.2245+7T>G
NM_001160148.2(DDHD1):c.2257A>G (p.Ile753Val)
NM_001160148.2(DDHD1):c.2259T>C (p.Ile753=)
NM_001160148.2(DDHD1):c.2262A>T (p.Gly754=)
NM_001160148.2(DDHD1):c.2283G>A (p.Leu761=)
NM_001160148.2(DDHD1):c.2286C>T (p.Phe762=)
NM_001160148.2(DDHD1):c.2290A>G (p.Arg764Gly)
NM_001160148.2(DDHD1):c.2299C>T (p.Arg767Cys) rs1057518484
NM_001160148.2(DDHD1):c.2320T>C (p.Ser774Pro) rs2139835148
NM_001160148.2(DDHD1):c.2341A>G (p.Met781Val)
NM_001160148.2(DDHD1):c.2380A>C (p.Thr794Pro) rs1555330109
NM_001160148.2(DDHD1):c.2385C>T (p.Thr795=)
NM_001160148.2(DDHD1):c.2408A>T (p.His803Leu) rs144016130
NM_001160148.2(DDHD1):c.241G>C (p.Asp81His)
NM_001160148.2(DDHD1):c.2426T>A (p.Leu809His)
NM_001160148.2(DDHD1):c.2427C>T (p.Leu809=)
NM_001160148.2(DDHD1):c.2437+10T>C
NM_001160148.2(DDHD1):c.2437+12C>T rs1882862124
NM_001160148.2(DDHD1):c.2437+18T>G
NM_001160148.2(DDHD1):c.2437+7T>G
NM_001160148.2(DDHD1):c.2437+9A>T
NM_001160148.2(DDHD1):c.245C>T (p.Pro82Leu) rs1273114560
NM_001160148.2(DDHD1):c.2522-8C>G rs768202098
NM_001160148.2(DDHD1):c.2522-8C>T
NM_001160148.2(DDHD1):c.2526G>A (p.Glu842=)
NM_001160148.2(DDHD1):c.2541del (p.Ile847fs) rs1882057104
NM_001160148.2(DDHD1):c.254G>A (p.Ser85Asn)
NM_001160148.2(DDHD1):c.2552T>C (p.Leu851Pro) rs1882056310
NM_001160148.2(DDHD1):c.2577C>G (p.Arg859=) rs1219034460
NM_001160148.2(DDHD1):c.259G>A (p.Glu87Lys) rs1891553460
NM_001160148.2(DDHD1):c.2667C>T (p.His889=)
NM_001160148.2(DDHD1):c.2668G>A (p.Asp890Asn) rs202164262
NM_001160148.2(DDHD1):c.2668G>C (p.Asp890His) rs202164262
NM_001160148.2(DDHD1):c.2684C>T (p.Pro895Leu) rs749084227
NM_001160148.2(DDHD1):c.268G>A (p.Asp90Asn)
NM_001160148.2(DDHD1):c.2693A>T (p.Asp898Val)
NM_001160148.2(DDHD1):c.276C>T (p.Ser92=)
NM_001160148.2(DDHD1):c.282C>G (p.Ala94=)
NM_001160148.2(DDHD1):c.282C>T (p.Ala94=)
NM_001160148.2(DDHD1):c.284A>C (p.Glu95Ala) rs941823104
NM_001160148.2(DDHD1):c.306C>T (p.Tyr102=) rs2139938237
NM_001160148.2(DDHD1):c.308A>G (p.Tyr103Cys)
NM_001160148.2(DDHD1):c.315G>A (p.Glu105=) rs774646790
NM_001160148.2(DDHD1):c.325GGC[10] (p.Gly112_Ser113insGlyGlyGlyGlyGlyGly) rs55671452
NM_001160148.2(DDHD1):c.325GGC[2] (p.Gly111_Gly112del)
NM_001160148.2(DDHD1):c.325GGC[5] (p.Gly112dup) rs55671452
NM_001160148.2(DDHD1):c.325GGC[6] (p.Gly111_Gly112dup) rs55671452
NM_001160148.2(DDHD1):c.325GGC[7] (p.Gly110_Gly112dup) rs55671452
NM_001160148.2(DDHD1):c.325GGC[8] (p.Gly109_Gly112dup) rs55671452
NM_001160148.2(DDHD1):c.325GGC[9] (p.Gly112_Ser113insGlyGlyGlyGlyGly) rs55671452
NM_001160148.2(DDHD1):c.336_337insGGCAGC (p.Gly112_Ser113insGlySer)
NM_001160148.2(DDHD1):c.337A>G (p.Ser113Gly)
NM_001160148.2(DDHD1):c.339C>T (p.Ser113=)
NM_001160148.2(DDHD1):c.339_340insGGCGGC (p.Ser113_Ser114insGlyGly)
NM_001160148.2(DDHD1):c.341C>T (p.Ser114Phe) rs753310279
NM_001160148.2(DDHD1):c.344dup (p.Leu115fs)
NM_001160148.2(DDHD1):c.345G>T (p.Leu115Phe) rs2139937244
NM_001160148.2(DDHD1):c.368C>T (p.Pro123Leu)
NM_001160148.2(DDHD1):c.36C>A (p.Pro12=)
NM_001160148.2(DDHD1):c.371C>T (p.Pro124Leu)
NM_001160148.2(DDHD1):c.379C>G (p.Pro127Ala)
NM_001160148.2(DDHD1):c.37G>A (p.Glu13Lys)
NM_001160148.2(DDHD1):c.383C>G (p.Thr128Arg) rs769034450
NM_001160148.2(DDHD1):c.395dup (p.Gly133fs) rs748385953
NM_001160148.2(DDHD1):c.39G>A (p.Glu13=)
NM_001160148.2(DDHD1):c.3G>A (p.Met1Ile) rs1891588735
NM_001160148.2(DDHD1):c.405G>A (p.Ala135=)
NM_001160148.2(DDHD1):c.410G>A (p.Gly137Glu)
NM_001160148.2(DDHD1):c.423G>A (p.Gly141=)
NM_001160148.2(DDHD1):c.441G>A (p.Arg147=)
NM_001160148.2(DDHD1):c.442C>G (p.Leu148Val)
NM_001160148.2(DDHD1):c.446G>A (p.Gly149Asp)
NM_001160148.2(DDHD1):c.450C>A (p.Gly150=)
NM_001160148.2(DDHD1):c.452C>T (p.Pro151Leu)
NM_001160148.2(DDHD1):c.456_463dup (p.His155fs)
NM_001160148.2(DDHD1):c.486G>C (p.Glu162Asp)
NM_001160148.2(DDHD1):c.487C>T (p.Leu163=) rs202213647
NM_001160148.2(DDHD1):c.501G>A (p.Glu167=)
NM_001160148.2(DDHD1):c.528G>A (p.Lys176=)
NM_001160148.2(DDHD1):c.53GCG[6] (p.Gly22dup) rs752119831
NM_001160148.2(DDHD1):c.53GCG[7] (p.Gly21_Gly22dup) rs752119831
NM_001160148.2(DDHD1):c.541C>T (p.Pro181Ser)
NM_001160148.2(DDHD1):c.553T>C (p.Tyr185His)
NM_001160148.2(DDHD1):c.55_56insTCGGCG (p.Gly18_Gly19insValGly)
NM_001160148.2(DDHD1):c.561G>A (p.Ser187=) rs1161786631
NM_001160148.2(DDHD1):c.564C>T (p.Leu188=)
NM_001160148.2(DDHD1):c.565C>G (p.Arg189Gly) rs1595287243
NM_001160148.2(DDHD1):c.570C>G (p.Ile190Met)
NM_001160148.2(DDHD1):c.576C>T (p.Leu192=)
NM_001160148.2(DDHD1):c.590T>C (p.Leu197Pro)
NM_001160148.2(DDHD1):c.5dup (p.Asn2fs) rs2139941138
NM_001160148.2(DDHD1):c.601A>G (p.Thr201Ala)
NM_001160148.2(DDHD1):c.60C>T (p.Gly20=)
NM_001160148.2(DDHD1):c.610C>T (p.Arg204Trp)
NM_001160148.2(DDHD1):c.614C>T (p.Pro205Leu) rs533899454
NM_001160148.2(DDHD1):c.620G>T (p.Gly207Val)
NM_001160148.2(DDHD1):c.641A>G (p.His214Arg) rs1595286866
NM_001160148.2(DDHD1):c.643G>A (p.Val215Met)
NM_001160148.2(DDHD1):c.657G>A (p.Thr219=)
NM_001160148.2(DDHD1):c.665C>A (p.Ala222Asp)
NM_001160148.2(DDHD1):c.668C>G (p.Ser223Cys) rs2139934413
NM_001160148.2(DDHD1):c.677G>T (p.Gly226Val)
NM_001160148.2(DDHD1):c.684T>C (p.Asp228=) rs1382953265
NM_001160148.2(DDHD1):c.688G>T (p.Asp230Tyr) rs147832037
NM_001160148.2(DDHD1):c.688_689delinsAT (p.Asp230Ile) rs1891474773
NM_001160148.2(DDHD1):c.700G>T (p.Ala234Ser) rs200233648
NM_001160148.2(DDHD1):c.702_708del (p.Cys235fs)
NM_001160148.2(DDHD1):c.705C>T (p.Cys235=)
NM_001160148.2(DDHD1):c.716A>G (p.Gln239Arg) rs1189242936
NM_001160148.2(DDHD1):c.718A>G (p.Ser240Gly) rs1891471025
NM_001160148.2(DDHD1):c.721A>C (p.Thr241Pro)
NM_001160148.2(DDHD1):c.723G>A (p.Thr241=)
NM_001160148.2(DDHD1):c.730C>T (p.His244Tyr)
NM_001160148.2(DDHD1):c.731del (p.His244fs)
NM_001160148.2(DDHD1):c.732C>G (p.His244Gln)
NM_001160148.2(DDHD1):c.745G>C (p.Val249Leu)
NM_001160148.2(DDHD1):c.751C>T (p.Leu251Phe)
NM_001160148.2(DDHD1):c.756G>A (p.Val252=)
NM_001160148.2(DDHD1):c.765G>T (p.Glu255Asp)
NM_001160148.2(DDHD1):c.812G>A (p.Gly271Glu)
NM_001160148.2(DDHD1):c.816G>A (p.Glu272=)
NM_001160148.2(DDHD1):c.81C>T (p.Gly27=)
NM_001160148.2(DDHD1):c.838+16G>A
NM_001160148.2(DDHD1):c.838+18G>T
NM_001160148.2(DDHD1):c.839-13T>C
NM_001160148.2(DDHD1):c.84A>T (p.Ser28=)
NM_001160148.2(DDHD1):c.850A>G (p.Ile284Val)
NM_001160148.2(DDHD1):c.934C>G (p.His312Asp)
NM_001160148.2(DDHD1):c.948T>C (p.Phe316=)
NM_001160148.2(DDHD1):c.954C>A (p.Gly318=)
NM_001160148.2(DDHD1):c.960G>A (p.Gln320=) rs2139724476
NM_001160148.2(DDHD1):c.965A>C (p.Gln322Pro)
NM_001160148.2(DDHD1):c.971del (p.Asn324fs) rs1887484564
NM_001160148.2(DDHD1):c.983_985del (p.Glu328del) rs780662262
NM_001160148.2(DDHD1):c.98C>A (p.Ala33Glu)
NM_001160148.2(DDHD1):c.991A>C (p.Lys331Gln)
NM_001166114.2(PNPLA6):c.1005+13C>G
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.1005+20C>A
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.1006-4C>G
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>C (p.Pro374=)
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+7A>C
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.1201C>A (p.Pro401Thr)
NM_001166114.2(PNPLA6):c.1206G>A (p.Ser402=)
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.1253-4G>T
NM_001166114.2(PNPLA6):c.1266C>A (p.Gly422=)
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.129G>A (p.Val43=)
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.132G>A (p.Pro44=)
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.1572C>T (p.Ala524=)
NM_001166114.2(PNPLA6):c.1581C>T (p.Gly527=)
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.1803C>G (p.Ser601=)
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.1938G>A (p.Ala646=)
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.1974C>A (p.Tyr658Ter)
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.2007C>T (p.Ile669=)
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.2061C>T (p.Leu687=)
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.2088G>T (p.Arg696=)
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.2126C>G (p.Thr709Arg)
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.2184+8C>T
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.2256C>T (p.Phe752=)
NM_001166114.2(PNPLA6):c.2260+14G>A
NM_001166114.2(PNPLA6):c.2260+15G>A
NM_001166114.2(PNPLA6):c.2260+16C>T
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.233-2A>G
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.2402-15C>A
NM_001166114.2(PNPLA6):c.2402-4del rs1467386153
NM_001166114.2(PNPLA6):c.2402-6C>T
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>G (p.Leu805=)
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.2442C>T (p.Arg814=)
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+11C>T
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.2635-15G>C
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.2657C>T (p.Thr886Met)
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.2727G>C (p.Val909=)
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.2818-20G>A
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.2988C>A (p.Pro996=)
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+20A>G
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.3131C>T (p.Thr1044Met)
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+15C>T
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+13C>T
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.3211-14C>A
NM_001166114.2(PNPLA6):c.3211-16A>T rs948743187
NM_001166114.2(PNPLA6):c.3211-17G>A
NM_001166114.2(PNPLA6):c.3211-18C>A
NM_001166114.2(PNPLA6):c.3211-20C>T
NM_001166114.2(PNPLA6):c.3211-4G>A rs779851141
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>A (p.Val1090=)
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.3315G>A (p.Thr1105=)
NM_001166114.2(PNPLA6):c.331TCC[1] (p.Ser112del)
NM_001166114.2(PNPLA6):c.3321G>A (p.Ser1107=)
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.3501G>A (p.Trp1167Ter)
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.3750C>T (p.Gly1250=)
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.3819G>A (p.Val1273=)
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.3913+8G>C
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.3989_4005del (p.Pro1330fs)
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.4024-19G>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.4074G>T (p.Pro1358=)
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.417C>A (p.Ile139=)
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.643C>A (p.Arg215=)
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.715-1G>A
NM_001166114.2(PNPLA6):c.721A>C (p.Lys241Gln)
NM_001166114.2(PNPLA6):c.726G>A (p.Glu242=)
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.796-16C>T
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.819C>T (p.Thr273=)
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.859C>T (p.Leu287=)
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.925-6C>T
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.975C>T (p.Tyr325=)
NM_001166114.2(PNPLA6):c.978G>A (p.Leu326=)
NM_001199753.2(CPT1C):c.1008C>G (p.Phe336Leu)
NM_001199753.2(CPT1C):c.1012C>A (p.Arg338=)
NM_001199753.2(CPT1C):c.1013G>A (p.Arg338Gln)
NM_001199753.2(CPT1C):c.1019G>A (p.Arg340Gln)
NM_001199753.2(CPT1C):c.1028G>T (p.Arg343Leu)
NM_001199753.2(CPT1C):c.107T>G (p.Leu36Arg)
NM_001199753.2(CPT1C):c.110G>A (p.Arg37His)
NM_001199753.2(CPT1C):c.111C>T (p.Arg37=)
NM_001199753.2(CPT1C):c.1120C>T (p.Pro374Ser)
NM_001199753.2(CPT1C):c.1123C>A (p.His375Asn)
NM_001199753.2(CPT1C):c.1160+13G>C
NM_001199753.2(CPT1C):c.1160+3A>G
NM_001199753.2(CPT1C):c.1160+5GGGTCAG[2]
NM_001199753.2(CPT1C):c.1161-12C>T
NM_001199753.2(CPT1C):c.1166C>T (p.Thr389Met)
NM_001199753.2(CPT1C):c.1167G>A (p.Thr389=)
NM_001199753.2(CPT1C):c.1202C>T (p.Ala401Val)
NM_001199753.2(CPT1C):c.1220C>T (p.Ala407Val)
NM_001199753.2(CPT1C):c.1221G>A (p.Ala407=)
NM_001199753.2(CPT1C):c.122G>C (p.Arg41Thr)
NM_001199753.2(CPT1C):c.1233dup (p.Ala412fs)
NM_001199753.2(CPT1C):c.1264G>A (p.Ala422Thr)
NM_001199753.2(CPT1C):c.1264G>T (p.Ala422Ser) rs777837083
NM_001199753.2(CPT1C):c.1265C>A (p.Ala422Glu)
NM_001199753.2(CPT1C):c.1266G>A (p.Ala422=)
NM_001199753.2(CPT1C):c.1272C>T (p.Leu424=)
NM_001199753.2(CPT1C):c.1297T>C (p.Leu433=)
NM_001199753.2(CPT1C):c.1331G>A (p.Arg444Gln)
NM_001199753.2(CPT1C):c.1343+15G>A
NM_001199753.2(CPT1C):c.1344-9C>T
NM_001199753.2(CPT1C):c.134G>A (p.Arg45His)
NM_001199753.2(CPT1C):c.1377C>T (p.Phe459=)
NM_001199753.2(CPT1C):c.1386G>A (p.Gly462=)
NM_001199753.2(CPT1C):c.13C>A (p.His5Asn)
NM_001199753.2(CPT1C):c.1402G>A (p.Val468Met)
NM_001199753.2(CPT1C):c.141+19C>T
NM_001199753.2(CPT1C):c.1450-2A>C
NM_001199753.2(CPT1C):c.1453A>G (p.Thr485Ala)
NM_001199753.2(CPT1C):c.146A>T (p.Asp49Val) rs762990997
NM_001199753.2(CPT1C):c.1485C>T (p.Tyr495=)
NM_001199753.2(CPT1C):c.1514C>T (p.Pro505Leu)
NM_001199753.2(CPT1C):c.1515G>A (p.Pro505=)
NM_001199753.2(CPT1C):c.1523C>T (p.Thr508Ile)
NM_001199753.2(CPT1C):c.1541G>A (p.Arg514Gln) rs150853576
NM_001199753.2(CPT1C):c.1541G>T (p.Arg514Leu) rs150853576
NM_001199753.2(CPT1C):c.1548A>G (p.Gln516=)
NM_001199753.2(CPT1C):c.1563C>T (p.Asp521=)
NM_001199753.2(CPT1C):c.1567-10C>T
NM_001199753.2(CPT1C):c.1567-13C>T
NM_001199753.2(CPT1C):c.1570C>T (p.His524Tyr)
NM_001199753.2(CPT1C):c.1579A>G (p.Ile527Val)
NM_001199753.2(CPT1C):c.1593G>A (p.Leu531=)
NM_001199753.2(CPT1C):c.1598G>T (p.Gly533Val)
NM_001199753.2(CPT1C):c.1601C>A (p.Ala534Asp)
NM_001199753.2(CPT1C):c.1613C>T (p.Ser538Phe) rs767617636
NM_001199753.2(CPT1C):c.1646C>T (p.Ser549Phe)
NM_001199753.2(CPT1C):c.1647C>G (p.Ser549=)
NM_001199753.2(CPT1C):c.1648C>T (p.Leu550=)
NM_001199753.2(CPT1C):c.1650A>G (p.Leu550=)
NM_001199753.2(CPT1C):c.1669C>T (p.Arg557Ter)
NM_001199753.2(CPT1C):c.1686T>A (p.Ser562=)
NM_001199753.2(CPT1C):c.1730G>A (p.Arg577Gln)
NM_001199753.2(CPT1C):c.1732-14_1732-12del rs760298565
NM_001199753.2(CPT1C):c.1732-5C>T
NM_001199753.2(CPT1C):c.1732-7C>T
NM_001199753.2(CPT1C):c.1732-8del
NM_001199753.2(CPT1C):c.1735_1736del (p.Arg579fs)
NM_001199753.2(CPT1C):c.1736G>A (p.Arg579Lys)
NM_001199753.2(CPT1C):c.1758T>C (p.Tyr586=)
NM_001199753.2(CPT1C):c.1764G>A (p.Ser588=)
NM_001199753.2(CPT1C):c.1779A>G (p.Leu593=)
NM_001199753.2(CPT1C):c.1786G>C (p.Glu596Gln)
NM_001199753.2(CPT1C):c.1793G>A (p.Arg598Gln)
NM_001199753.2(CPT1C):c.1800G>A (p.Glu600=)
NM_001199753.2(CPT1C):c.1802C>T (p.Thr601Met)
NM_001199753.2(CPT1C):c.180C>T (p.Leu60=)
NM_001199753.2(CPT1C):c.1824G>A (p.Glu608=)
NM_001199753.2(CPT1C):c.1837G>A (p.Val613Ile)
NM_001199753.2(CPT1C):c.1837G>C (p.Val613Leu)
NM_001199753.2(CPT1C):c.1849G>A (p.Glu617Lys)
NM_001199753.2(CPT1C):c.1865C>T (p.Thr622Met)
NM_001199753.2(CPT1C):c.1866+13C>T
NM_001199753.2(CPT1C):c.1866+16G>A
NM_001199753.2(CPT1C):c.1866+3G>A
NM_001199753.2(CPT1C):c.1882G>C (p.Ala628Pro) rs774619970
NM_001199753.2(CPT1C):c.1893C>T (p.Arg631=)
NM_001199753.2(CPT1C):c.1920G>C (p.Leu640=)
NM_001199753.2(CPT1C):c.1928C>G (p.Ala643Gly)
NM_001199753.2(CPT1C):c.1938C>T (p.Ser646=)
NM_001199753.2(CPT1C):c.1939G>A (p.Gly647Arg)
NM_001199753.2(CPT1C):c.1968G>C (p.Ala656=) rs369591453
NM_001199753.2(CPT1C):c.1995C>G (p.His665Gln)
NM_001199753.2(CPT1C):c.2019+11A>C
NM_001199753.2(CPT1C):c.2019+1G>C
NM_001199753.2(CPT1C):c.2047A>C (p.Thr683Pro)
NM_001199753.2(CPT1C):c.2062G>A (p.Val688Ile)
NM_001199753.2(CPT1C):c.2071A>G (p.Met691Val)
NM_001199753.2(CPT1C):c.2093A>G (p.Asn698Ser)
NM_001199753.2(CPT1C):c.2105A>G (p.Tyr702Cys)
NM_001199753.2(CPT1C):c.2133+11C>T
NM_001199753.2(CPT1C):c.2133+15dup rs56405217
NM_001199753.2(CPT1C):c.2133+16C>T
NM_001199753.2(CPT1C):c.2133+19G>C
NM_001199753.2(CPT1C):c.2133+3G>A
NM_001199753.2(CPT1C):c.2134-18C>T
NM_001199753.2(CPT1C):c.2135C>G (p.Ala712Gly)
NM_001199753.2(CPT1C):c.2148T>G (p.Gly716=) rs2123532953
NM_001199753.2(CPT1C):c.2176del (p.Asp726fs)
NM_001199753.2(CPT1C):c.2178T>A (p.Asp726Glu)
NM_001199753.2(CPT1C):c.2187C>T (p.Ile729=)
NM_001199753.2(CPT1C):c.2190C>T (p.Thr730=) rs2123533787
NM_001199753.2(CPT1C):c.2225C>T (p.Thr742Met)
NM_001199753.2(CPT1C):c.2227-9T>C
NM_001199753.2(CPT1C):c.2261C>T (p.Ala754Val)
NM_001199753.2(CPT1C):c.2268G>A (p.Leu756=)
NM_001199753.2(CPT1C):c.2301T>C (p.His767=)
NM_001199753.2(CPT1C):c.2308C>T (p.Arg770Cys)
NM_001199753.2(CPT1C):c.2309G>A (p.Arg770His)
NM_001199753.2(CPT1C):c.2311del (p.Arg771fs) rs1568549917
NM_001199753.2(CPT1C):c.2312G>A (p.Arg771Gln)
NM_001199753.2(CPT1C):c.2365C>T (p.Arg789Cys)
NM_001199753.2(CPT1C):c.2366G>A (p.Arg789His)
NM_001199753.2(CPT1C):c.2366G>T (p.Arg789Leu)
NM_001199753.2(CPT1C):c.2391A>G (p.Ser797=) rs2084063268
NM_001199753.2(CPT1C):c.2396C>T (p.Thr799Ile)
NM_001199753.2(CPT1C):c.26G>A (p.Gly9Asp)
NM_001199753.2(CPT1C):c.274C>A (p.Pro92Thr)
NM_001199753.2(CPT1C):c.281+8C>A
NM_001199753.2(CPT1C):c.281+9C>T
NM_001199753.2(CPT1C):c.282-15T>C
NM_001199753.2(CPT1C):c.282-3C>G rs2082962666
NM_001199753.2(CPT1C):c.282-5C>T
NM_001199753.2(CPT1C):c.297C>T (p.His99=)
NM_001199753.2(CPT1C):c.305G>A (p.Arg102Gln)
NM_001199753.2(CPT1C):c.310G>T (p.Val104Phe)
NM_001199753.2(CPT1C):c.312C>T (p.Val104=)
NM_001199753.2(CPT1C):c.333C>T (p.Ala111=)
NM_001199753.2(CPT1C):c.350C>T (p.Ala117Val)
NM_001199753.2(CPT1C):c.357C>T (p.Ile119=)
NM_001199753.2(CPT1C):c.363A>G (p.Thr121=)
NM_001199753.2(CPT1C):c.369C>G (p.His123Gln)
NM_001199753.2(CPT1C):c.372G>A (p.Val124=) rs1600070785
NM_001199753.2(CPT1C):c.388C>G (p.Leu130Val)
NM_001199753.2(CPT1C):c.391T>C (p.Ser131Pro)
NM_001199753.2(CPT1C):c.392C>A (p.Ser131Tyr)
NM_001199753.2(CPT1C):c.393C>T (p.Ser131=)
NM_001199753.2(CPT1C):c.39G>A (p.Ser13=)
NM_001199753.2(CPT1C):c.420C>T (p.His140=)
NM_001199753.2(CPT1C):c.421G>A (p.Gly141Arg)
NM_001199753.2(CPT1C):c.434C>T (p.Ser145Phe)
NM_001199753.2(CPT1C):c.438C>A (p.Pro146=) rs372366841
NM_001199753.2(CPT1C):c.454-11C>T
NM_001199753.2(CPT1C):c.455C>T (p.Ala152Val) rs2083037700
NM_001199753.2(CPT1C):c.474T>C (p.Ser158=)
NM_001199753.2(CPT1C):c.478C>T (p.Arg160Cys)
NM_001199753.2(CPT1C):c.505C>T (p.Arg169Cys)
NM_001199753.2(CPT1C):c.506G>A (p.Arg169His)
NM_001199753.2(CPT1C):c.51C>A (p.Asp17Glu)
NM_001199753.2(CPT1C):c.524C>T (p.Pro175Leu)
NM_001199753.2(CPT1C):c.532T>C (p.Ser178Pro)
NM_001199753.2(CPT1C):c.539A>G (p.Gln180Arg)
NM_001199753.2(CPT1C):c.540G>A (p.Gln180=)
NM_001199753.2(CPT1C):c.547G>T (p.Val183Leu)
NM_001199753.2(CPT1C):c.556-14C>T
NM_001199753.2(CPT1C):c.556-6C>T rs764174539
NM_001199753.2(CPT1C):c.556-9C>A
NM_001199753.2(CPT1C):c.558C>A (p.Tyr186Ter)
NM_001199753.2(CPT1C):c.567G>A (p.Ser189=)
NM_001199753.2(CPT1C):c.56C>T (p.Ala19Val)
NM_001199753.2(CPT1C):c.589G>A (p.Glu197Lys) rs749791796
NM_001199753.2(CPT1C):c.598G>A (p.Asp200Asn)
NM_001199753.2(CPT1C):c.605C>T (p.Thr202Ile)
NM_001199753.2(CPT1C):c.607G>A (p.Ala203Thr)
NM_001199753.2(CPT1C):c.609G>A (p.Ala203=)
NM_001199753.2(CPT1C):c.652C>T (p.Gln218Ter)
NM_001199753.2(CPT1C):c.676T>C (p.Trp226Arg)
NM_001199753.2(CPT1C):c.685T>G (p.Ser229Ala)
NM_001199753.2(CPT1C):c.689A>C (p.Asn230Thr)
NM_001199753.2(CPT1C):c.689A>G (p.Asn230Ser)
NM_001199753.2(CPT1C):c.693+10G>A
NM_001199753.2(CPT1C):c.693+11C>T
NM_001199753.2(CPT1C):c.693+18C>T
NM_001199753.2(CPT1C):c.693+7C>G
NM_001199753.2(CPT1C):c.694-10C>G
NM_001199753.2(CPT1C):c.694-14C>A
NM_001199753.2(CPT1C):c.694-2A>G
NM_001199753.2(CPT1C):c.694-7C>T
NM_001199753.2(CPT1C):c.694-8G>A
NM_001199753.2(CPT1C):c.694-9C>G
NM_001199753.2(CPT1C):c.694-9C>T
NM_001199753.2(CPT1C):c.709G>A (p.Glu237Lys)
NM_001199753.2(CPT1C):c.70A>G (p.Ser24Gly)
NM_001199753.2(CPT1C):c.741G>A (p.Pro247=)
NM_001199753.2(CPT1C):c.748G>A (p.Val250Met)
NM_001199753.2(CPT1C):c.771+11G>A
NM_001199753.2(CPT1C):c.771+20G>A rs2123397167
NM_001199753.2(CPT1C):c.786C>T (p.Val262=)
NM_001199753.2(CPT1C):c.793A>C (p.Thr265Pro)
NM_001199753.2(CPT1C):c.795G>A (p.Thr265=)
NM_001199753.2(CPT1C):c.811C>T (p.Arg271Cys)
NM_001199753.2(CPT1C):c.840C>G (p.Leu280=)
NM_001199753.2(CPT1C):c.854G>A (p.Arg285His)
NM_001199753.2(CPT1C):c.862C>T (p.Arg288Cys)
NM_001199753.2(CPT1C):c.863G>T (p.Arg288Leu)
NM_001199753.2(CPT1C):c.879+12C>T
NM_001199753.2(CPT1C):c.879G>T (p.Pro293=) rs1049933458
NM_001199753.2(CPT1C):c.880-13C>T
NM_001199753.2(CPT1C):c.930C>G (p.Ile310Met)
NM_001199753.2(CPT1C):c.936C>T (p.Asn312=)
NM_001199753.2(CPT1C):c.942G>A (p.Thr314=)
NM_001199753.2(CPT1C):c.943C>T (p.Arg315Trp)
NM_001199753.2(CPT1C):c.955G>T (p.Val319Phe)
NM_001199753.2(CPT1C):c.965-12C>T
NM_001199753.2(CPT1C):c.974G>A (p.Arg325His)
NM_001199753.2(CPT1C):c.979C>T (p.Leu327Phe)
NM_001199753.2(CPT1C):c.991C>G (p.Gln331Glu)
NM_001244008.2(KIF1A):c.1010A>G (p.Asn337Ser)
NM_001244008.2(KIF1A):c.1011C>T (p.Asn337=) rs1485121388
NM_001244008.2(KIF1A):c.1014C>T (p.Tyr338=)
NM_001244008.2(KIF1A):c.1015G>A (p.Asp339Asn)
NM_001244008.2(KIF1A):c.1021A>G (p.Thr341Ala) rs2052419658
NM_001244008.2(KIF1A):c.1022C>A (p.Thr341Asn) rs2125976621
NM_001244008.2(KIF1A):c.1026T>C (p.Leu342=)
NM_001244008.2(KIF1A):c.1031C>T (p.Thr344Met) rs2125976585
NM_001244008.2(KIF1A):c.1032G>A (p.Thr344=) rs760595439
NM_001244008.2(KIF1A):c.1037+12A>C
NM_001244008.2(KIF1A):c.1037+13G>A
NM_001244008.2(KIF1A):c.1037+18A>G
NM_001244008.2(KIF1A):c.1037+1G>C rs2125976529
NM_001244008.2(KIF1A):c.1037+5G>A
NM_001244008.2(KIF1A):c.1037+5G>C
NM_001244008.2(KIF1A):c.1037+8C>T rs1575605027
NM_001244008.2(KIF1A):c.1037+9T>C
NM_001244008.2(KIF1A):c.1038-13C>T
NM_001244008.2(KIF1A):c.1038-15C>T
NM_001244008.2(KIF1A):c.1038-17C>A
NM_001244008.2(KIF1A):c.1038-19_1038-16dup rs757814048
NM_001244008.2(KIF1A):c.1038-3del rs2125969236
NM_001244008.2(KIF1A):c.1038-4C>T
NM_001244008.2(KIF1A):c.1038-5C>T
NM_001244008.2(KIF1A):c.1038-6A>G rs1064796903
NM_001244008.2(KIF1A):c.103A>G (p.Thr35Ala)
NM_001244008.2(KIF1A):c.1040A>G (p.Tyr347Cys) rs879254004
NM_001244008.2(KIF1A):c.1044T>C (p.Ala348=)
NM_001244008.2(KIF1A):c.1049G>A (p.Arg350Gln)
NM_001244008.2(KIF1A):c.104C>A (p.Thr35Asn) rs2056551129
NM_001244008.2(KIF1A):c.1058A>G (p.Gln353Arg)
NM_001244008.2(KIF1A):c.106+12C>T
NM_001244008.2(KIF1A):c.106+13C>T
NM_001244008.2(KIF1A):c.106+16C>T rs2056550001
NM_001244008.2(KIF1A):c.106+18C>T
NM_001244008.2(KIF1A):c.106+3G>T
NM_001244008.2(KIF1A):c.1062C>T (p.Ile354=)
NM_001244008.2(KIF1A):c.106A>G (p.Thr36Ala) rs2056550934
NM_001244008.2(KIF1A):c.107-10C>A rs765136234
NM_001244008.2(KIF1A):c.107-10C>T
NM_001244008.2(KIF1A):c.107-19C>T
NM_001244008.2(KIF1A):c.107-4A>G
NM_001244008.2(KIF1A):c.1074T>C (p.Ala358=)
NM_001244008.2(KIF1A):c.1075G>C (p.Val359Leu)
NM_001244008.2(KIF1A):c.1082A>G (p.Asn361Ser)
NM_001244008.2(KIF1A):c.1082A>T (p.Asn361Ile) rs1575603705
NM_001244008.2(KIF1A):c.1095C>A (p.Asn365Lys)
NM_001244008.2(KIF1A):c.1098C>T (p.Asn366=) rs1343373032
NM_001244008.2(KIF1A):c.10del (p.Ala4fs) rs2056562900
NM_001244008.2(KIF1A):c.1101G>A (p.Lys367=)
NM_001244008.2(KIF1A):c.1108C>T (p.Arg370Cys) rs750240846
NM_001244008.2(KIF1A):c.1109G>A (p.Arg370His)
NM_001244008.2(KIF1A):c.1109G>C (p.Arg370Pro)
NM_001244008.2(KIF1A):c.1110C>A (p.Arg370=) rs369641508
NM_001244008.2(KIF1A):c.1113G>A (p.Glu371=)
NM_001244008.2(KIF1A):c.1114C>G (p.Leu372Val)
NM_001244008.2(KIF1A):c.1128G>C (p.Val376=)
NM_001244008.2(KIF1A):c.1128G>T (p.Val376=) rs763073869
NM_001244008.2(KIF1A):c.112G>A (p.Val38Ile)
NM_001244008.2(KIF1A):c.1133G>A (p.Arg378Gln)
NM_001244008.2(KIF1A):c.1133G>T (p.Arg378Leu)
NM_001244008.2(KIF1A):c.1134G>A (p.Arg378=)
NM_001244008.2(KIF1A):c.1136T>C (p.Leu379Pro)
NM_001244008.2(KIF1A):c.1138C>A (p.Arg380=)
NM_001244008.2(KIF1A):c.1139G>C (p.Arg380Pro) rs759791775
NM_001244008.2(KIF1A):c.1145T>G (p.Leu382Arg) rs2052242225
NM_001244008.2(KIF1A):c.1153G>A (p.Ala385Thr)
NM_001244008.2(KIF1A):c.1154C>T (p.Ala385Val)
NM_001244008.2(KIF1A):c.1161T>A (p.Gly387=)
NM_001244008.2(KIF1A):c.1161T>C (p.Gly387=) rs747490578
NM_001244008.2(KIF1A):c.1164T>C (p.Leu388=)
NM_001244008.2(KIF1A):c.1173C>T (p.Ile391=)
NM_001244008.2(KIF1A):c.1174A>G (p.Thr392Ala) rs2052237059
NM_001244008.2(KIF1A):c.117C>A (p.Asn39Lys) rs2126098806
NM_001244008.2(KIF1A):c.1180+15C>T rs750022058
NM_001244008.2(KIF1A):c.1180+16A>T
NM_001244008.2(KIF1A):c.1180+17G>A
NM_001244008.2(KIF1A):c.1180+17G>C
NM_001244008.2(KIF1A):c.1180+20T>C
NM_001244008.2(KIF1A):c.1180+9C>T rs1553635490
NM_001244008.2(KIF1A):c.1208-10C>T
NM_001244008.2(KIF1A):c.1208-2A>C
NM_001244008.2(KIF1A):c.1208-3C>T
NM_001244008.2(KIF1A):c.1211C>G (p.Thr404Ser) rs2051903102
NM_001244008.2(KIF1A):c.1212C>A (p.Thr404=)
NM_001244008.2(KIF1A):c.1214A>G (p.Asn405Ser)
NM_001244008.2(KIF1A):c.1216G>T (p.Ala406Ser) rs2125951422
NM_001244008.2(KIF1A):c.1217C>A (p.Ala406Asp)
NM_001244008.2(KIF1A):c.1219C>T (p.Leu407=) rs2125951393
NM_001244008.2(KIF1A):c.1221G>T (p.Leu407=)
NM_001244008.2(KIF1A):c.1222G>C (p.Val408Leu)
NM_001244008.2(KIF1A):c.1224G>C (p.Val408=)
NM_001244008.2(KIF1A):c.1224G>T (p.Val408=)
NM_001244008.2(KIF1A):c.1226G>A (p.Gly409Asp)
NM_001244008.2(KIF1A):c.1230G>A (p.Met410Ile) rs1413146684
NM_001244008.2(KIF1A):c.1234C>G (p.Pro412Ala)
NM_001244008.2(KIF1A):c.1234C>T (p.Pro412Ser)
NM_001244008.2(KIF1A):c.123A>G (p.Lys41=) rs2126098791
NM_001244008.2(KIF1A):c.1244C>T (p.Ser415Leu) rs867278675
NM_001244008.2(KIF1A):c.1245G>C (p.Ser415=) rs770282705
NM_001244008.2(KIF1A):c.1247T>C (p.Leu416Pro)
NM_001244008.2(KIF1A):c.1254C>T (p.Ala418=) rs2051896194
NM_001244008.2(KIF1A):c.1257G>C (p.Leu419=)
NM_001244008.2(KIF1A):c.1260C>A (p.Ser420=)
NM_001244008.2(KIF1A):c.1260C>T (p.Ser420=)
NM_001244008.2(KIF1A):c.1264C>A (p.Arg422Ser)
NM_001244008.2(KIF1A):c.1265_1285dup (p.Arg422_Ser428dup) rs1575600586
NM_001244008.2(KIF1A):c.126G>A (p.Gln42=)
NM_001244008.2(KIF1A):c.1271C>A (p.Ala424Asp) rs780212657
NM_001244008.2(KIF1A):c.1271C>G (p.Ala424Gly) rs780212657
NM_001244008.2(KIF1A):c.1274C>T (p.Ser425Phe)
NM_001244008.2(KIF1A):c.1278G>C (p.Val426=)
NM_001244008.2(KIF1A):c.1279T>A (p.Ser427Thr)
NM_001244008.2(KIF1A):c.1281C>G (p.Ser427=)
NM_001244008.2(KIF1A):c.1283G>A (p.Ser428Asn)
NM_001244008.2(KIF1A):c.1290C>A (p.His430Gln)
NM_001244008.2(KIF1A):c.1290C>T (p.His430=)
NM_001244008.2(KIF1A):c.1291G>C (p.Glu431Gln)
NM_001244008.2(KIF1A):c.1293G>A (p.Glu431=)
NM_001244008.2(KIF1A):c.1294C>G (p.Arg432Gly)
NM_001244008.2(KIF1A):c.1294C>T (p.Arg432Cys) rs763524814
NM_001244008.2(KIF1A):c.1295G>A (p.Arg432His)
NM_001244008.2(KIF1A):c.1297A>T (p.Ile433Phe) rs2125950614
NM_001244008.2(KIF1A):c.129C>G (p.Pro43=)
NM_001244008.2(KIF1A):c.1312G>A (p.Gly438Ser) rs2051886232
NM_001244008.2(KIF1A):c.1314C>T (p.Gly438=)
NM_001244008.2(KIF1A):c.1323G>A (p.Glu441=)
NM_001244008.2(KIF1A):c.1327A>G (p.Ile443Val)
NM_001244008.2(KIF1A):c.1328T>C (p.Ile443Thr)
NM_001244008.2(KIF1A):c.1329T>C (p.Ile443=) rs761314693
NM_001244008.2(KIF1A):c.1336C>T (p.Leu446=) rs2125950329
NM_001244008.2(KIF1A):c.133G>C (p.Glu45Gln)
NM_001244008.2(KIF1A):c.1341+10C>T
NM_001244008.2(KIF1A):c.1341+11C>T
NM_001244008.2(KIF1A):c.1341+20C>T
NM_001244008.2(KIF1A):c.1341+7G>A rs184947396
NM_001244008.2(KIF1A):c.1341+9A>G rs2125950235
NM_001244008.2(KIF1A):c.1341G>A (p.Lys447=)
NM_001244008.2(KIF1A):c.1342-10C>T
NM_001244008.2(KIF1A):c.1342-12C>T
NM_001244008.2(KIF1A):c.1342-6C>G
NM_001244008.2(KIF1A):c.1342-8A>T
NM_001244008.2(KIF1A):c.1343A>G (p.Glu448Gly)
NM_001244008.2(KIF1A):c.1348G>A (p.Glu450Lys)
NM_001244008.2(KIF1A):c.1350G>A (p.Glu450=)
NM_001244008.2(KIF1A):c.1351A>G (p.Lys451Glu)
NM_001244008.2(KIF1A):c.1365G>A (p.Glu455=)
NM_001244008.2(KIF1A):c.1365G>C (p.Glu455Asp)
NM_001244008.2(KIF1A):c.136A>C (p.Thr46Pro) rs2126098737
NM_001244008.2(KIF1A):c.1370A>G (p.Asn457Ser)
NM_001244008.2(KIF1A):c.1371T>C (p.Asn457=) rs2125940729
NM_001244008.2(KIF1A):c.1377C>G (p.Thr459=)
NM_001244008.2(KIF1A):c.137C>A (p.Thr46Lys) rs182395595
NM_001244008.2(KIF1A):c.1383G>A (p.Glu461=)
NM_001244008.2(KIF1A):c.138G>C (p.Thr46=)
NM_001244008.2(KIF1A):c.1393C>T (p.Arg465Trp) rs748516266
NM_001244008.2(KIF1A):c.1397G>A (p.Arg466Gln)
NM_001244008.2(KIF1A):c.139C>T (p.Pro47Ser) rs2126098676
NM_001244008.2(KIF1A):c.1411C>T (p.Arg471Trp)
NM_001244008.2(KIF1A):c.1414A>T (p.Met472Leu) rs2051687232
NM_001244008.2(KIF1A):c.1421+12G>A
NM_001244008.2(KIF1A):c.1421+13G>A
NM_001244008.2(KIF1A):c.1421+13G>T
NM_001244008.2(KIF1A):c.1421+16A>G
NM_001244008.2(KIF1A):c.1421+2T>A rs751051049
NM_001244008.2(KIF1A):c.1421+3G>A rs763722570
NM_001244008.2(KIF1A):c.1421+6C>T
NM_001244008.2(KIF1A):c.1421+8G>C
NM_001244008.2(KIF1A):c.1421+9C>G rs372601809
NM_001244008.2(KIF1A):c.1421+9C>T rs372601809
NM_001244008.2(KIF1A):c.1422-10G>T
NM_001244008.2(KIF1A):c.1422-19C>G
NM_001244008.2(KIF1A):c.1422-20C>T
NM_001244008.2(KIF1A):c.1422-6C>T rs978587094
NM_001244008.2(KIF1A):c.1427C>G (p.Ala476Gly)
NM_001244008.2(KIF1A):c.1431G>T (p.Leu477=) rs2125937604
NM_001244008.2(KIF1A):c.1434G>A (p.Leu478=)
NM_001244008.2(KIF1A):c.1437C>A (p.Ala479=) rs375180690
NM_001244008.2(KIF1A):c.1438G>A (p.Glu480Lys) rs2125937567
NM_001244008.2(KIF1A):c.1440G>A (p.Glu480=) rs2125937557
NM_001244008.2(KIF1A):c.1446T>A (p.Gly482=)
NM_001244008.2(KIF1A):c.1446T>C (p.Gly482=)
NM_001244008.2(KIF1A):c.144A>G (p.Lys48=)
NM_001244008.2(KIF1A):c.1452C>T (p.Ala484=) rs2125937524
NM_001244008.2(KIF1A):c.1461G>A (p.Glu487=)
NM_001244008.2(KIF1A):c.146G>A (p.Ser49Asn)
NM_001244008.2(KIF1A):c.1482A>C (p.Val494=) rs1314482134
NM_001244008.2(KIF1A):c.1482A>T (p.Val494=)
NM_001244008.2(KIF1A):c.1488T>C (p.Ser496=)
NM_001244008.2(KIF1A):c.1495A>C (p.Lys499Gln)
NM_001244008.2(KIF1A):c.1497+10A>G
NM_001244008.2(KIF1A):c.1497+18T>C
NM_001244008.2(KIF1A):c.1497+19C>T
NM_001244008.2(KIF1A):c.1497+6A>G
NM_001244008.2(KIF1A):c.1498-10C>T
NM_001244008.2(KIF1A):c.1498-12G>A
NM_001244008.2(KIF1A):c.1498-12G>C rs369126975
NM_001244008.2(KIF1A):c.1498-12G>T rs369126975
NM_001244008.2(KIF1A):c.1498-15C>G
NM_001244008.2(KIF1A):c.1498-15C>T rs760557226
NM_001244008.2(KIF1A):c.1498-18C>A
NM_001244008.2(KIF1A):c.1498-3C>A rs1191854158
NM_001244008.2(KIF1A):c.14C>T (p.Ser5Leu)
NM_001244008.2(KIF1A):c.1500A>C (p.Thr500=)
NM_001244008.2(KIF1A):c.1500A>G (p.Thr500=) rs937511086
NM_001244008.2(KIF1A):c.1506C>T (p.His502=)
NM_001244008.2(KIF1A):c.1510G>A (p.Val504Ile)
NM_001244008.2(KIF1A):c.1510G>C (p.Val504Leu)
NM_001244008.2(KIF1A):c.1522G>C (p.Glu508Gln) rs1276695754
NM_001244008.2(KIF1A):c.1525G>A (p.Asp509Asn)
NM_001244008.2(KIF1A):c.1529C>T (p.Pro510Leu)
NM_001244008.2(KIF1A):c.1531C>G (p.Leu511Val) rs2125927251
NM_001244008.2(KIF1A):c.1539T>A (p.Ser513=)
NM_001244008.2(KIF1A):c.153C>G (p.Ser51Arg) rs919187835
NM_001244008.2(KIF1A):c.1546C>T (p.Leu516=) rs1575595906
NM_001244008.2(KIF1A):c.1549C>T (p.Leu517Phe) rs2051325258
NM_001244008.2(KIF1A):c.1558A>G (p.Ile520Val) rs1433726322
NM_001244008.2(KIF1A):c.1569G>T (p.Gly523=) rs2051323970
NM_001244008.2(KIF1A):c.1577+12C>G
NM_001244008.2(KIF1A):c.1577+13C>T
NM_001244008.2(KIF1A):c.1577+15G>A
NM_001244008.2(KIF1A):c.1577+19G>A
NM_001244008.2(KIF1A):c.1577+20C>T
NM_001244008.2(KIF1A):c.1577+9G>A rs2125927085
NM_001244008.2(KIF1A):c.1577+9_1577+13dup
NM_001244008.2(KIF1A):c.1578-10C>T
NM_001244008.2(KIF1A):c.1578-12C>T
NM_001244008.2(KIF1A):c.1578-15G>A
NM_001244008.2(KIF1A):c.1578-17G>T rs747451923
NM_001244008.2(KIF1A):c.1578-18G>T
NM_001244008.2(KIF1A):c.1578-2A>G rs2125925871
NM_001244008.2(KIF1A):c.1578-3C>T
NM_001244008.2(KIF1A):c.1578-4G>T rs376897164
NM_001244008.2(KIF1A):c.1578-5C>A rs779796603
NM_001244008.2(KIF1A):c.1578-7C>A
NM_001244008.2(KIF1A):c.1578-7C>G rs748724769
NM_001244008.2(KIF1A):c.1578-9A>C
NM_001244008.2(KIF1A):c.1578-9A>G rs2125925914
NM_001244008.2(KIF1A):c.1586G>C (p.Arg529Thr) rs2125925853
NM_001244008.2(KIF1A):c.1587G>A (p.Arg529=) rs1318367754
NM_001244008.2(KIF1A):c.1594G>T (p.Gly532Cys)
NM_001244008.2(KIF1A):c.1601G>A (p.Arg534Lys)
NM_001244008.2(KIF1A):c.1603C>T (p.Arg535Trp) rs752692031
NM_001244008.2(KIF1A):c.1604G>A (p.Arg535Gln) rs2125925799
NM_001244008.2(KIF1A):c.1610A>G (p.Asp537Gly)
NM_001244008.2(KIF1A):c.1618C>T (p.Leu540=) rs965484284
NM_001244008.2(KIF1A):c.1622G>T (p.Ser541Ile) rs2051286208
NM_001244008.2(KIF1A):c.1623T>C (p.Ser541=)
NM_001244008.2(KIF1A):c.1629C>T (p.His543=) rs765564119
NM_001244008.2(KIF1A):c.1630T>C (p.Phe544Leu)
NM_001244008.2(KIF1A):c.1636A>G (p.Lys546Glu) rs2125925707
NM_001244008.2(KIF1A):c.1647C>T (p.His549=)
NM_001244008.2(KIF1A):c.1658G>A (p.Arg553Gln)
NM_001244008.2(KIF1A):c.1662C>A (p.Ser554Arg) rs2051283497
NM_001244008.2(KIF1A):c.1669A>G (p.Arg557Gly)
NM_001244008.2(KIF1A):c.1673G>A (p.Gly558Glu) rs1553634474
NM_001244008.2(KIF1A):c.1681G>A (p.Glu561Lys) rs957698209
NM_001244008.2(KIF1A):c.1684+19C>A
NM_001244008.2(KIF1A):c.1684+20C>T
NM_001244008.2(KIF1A):c.1685-11C>A rs1292354329
NM_001244008.2(KIF1A):c.1685-12C>T
NM_001244008.2(KIF1A):c.1685-13A>C rs575193535
NM_001244008.2(KIF1A):c.1685-13A>G rs575193535
NM_001244008.2(KIF1A):c.1685-14C>G
NM_001244008.2(KIF1A):c.1685-8T>A
NM_001244008.2(KIF1A):c.1686T>A (p.Ala562=)
NM_001244008.2(KIF1A):c.1692G>T (p.Val564=) rs2051095456
NM_001244008.2(KIF1A):c.1693dup (p.Thr565fs)
NM_001244008.2(KIF1A):c.1694C>A (p.Thr565Asn) rs2125918613
NM_001244008.2(KIF1A):c.169T>C (p.Trp57Arg) rs2055347286
NM_001244008.2(KIF1A):c.16G>C (p.Val6Leu)
NM_001244008.2(KIF1A):c.1703C>T (p.Pro568Leu)
NM_001244008.2(KIF1A):c.170G>T (p.Trp57Leu)
NM_001244008.2(KIF1A):c.1722C>T (p.Thr574=)
NM_001244008.2(KIF1A):c.173C>G (p.Ser58Trp) rs672601362
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.1740A>G (p.Lys580=) rs2051091768
NM_001244008.2(KIF1A):c.174G>T (p.Ser58=)
NM_001244008.2(KIF1A):c.1755C>T (p.Ser585=)
NM_001244008.2(KIF1A):c.1763G>A (p.Arg588His) rs556945776
NM_001244008.2(KIF1A):c.1768+10G>A
NM_001244008.2(KIF1A):c.1768+4T>C rs780489790
NM_001244008.2(KIF1A):c.1768+6G>A
NM_001244008.2(KIF1A):c.1769-13C>T
NM_001244008.2(KIF1A):c.1769-14C>T
NM_001244008.2(KIF1A):c.1769-17G>T
NM_001244008.2(KIF1A):c.1769-19C>G rs2125906461
NM_001244008.2(KIF1A):c.1769-20C>T
NM_001244008.2(KIF1A):c.1769-5C>T
NM_001244008.2(KIF1A):c.1769-6C>A rs1575590562
NM_001244008.2(KIF1A):c.1772A>G (p.Asn591Ser)
NM_001244008.2(KIF1A):c.1775G>A (p.Arg592His) rs2050759865
NM_001244008.2(KIF1A):c.1776C>A (p.Arg592=)
NM_001244008.2(KIF1A):c.1777A>G (p.Ile593Val)
NM_001244008.2(KIF1A):c.177C>T (p.His59=)
NM_001244008.2(KIF1A):c.1782C>T (p.Ile594=)
NM_001244008.2(KIF1A):c.1783A>G (p.Met595Val) rs2125906210
NM_001244008.2(KIF1A):c.1797T>C (p.His599=)
NM_001244008.2(KIF1A):c.1800G>A (p.Val600=)
NM_001244008.2(KIF1A):c.1803C>T (p.Phe601=) rs2125906123
NM_001244008.2(KIF1A):c.1804C>T (p.Arg602Trp) rs1020847767
NM_001244008.2(KIF1A):c.1818C>A (p.Pro606=) rs757613674
NM_001244008.2(KIF1A):c.1818C>T (p.Pro606=)
NM_001244008.2(KIF1A):c.1819G>A (p.Glu607Lys) rs2050754546
NM_001244008.2(KIF1A):c.1826C>T (p.Ala609Val)
NM_001244008.2(KIF1A):c.1827C>G (p.Ala609=)
NM_001244008.2(KIF1A):c.1828C>T (p.Arg610Trp)
NM_001244008.2(KIF1A):c.1829G>A (p.Arg610Gln)
NM_001244008.2(KIF1A):c.183+15C>G
NM_001244008.2(KIF1A):c.183+16G>A
NM_001244008.2(KIF1A):c.183+16G>C
NM_001244008.2(KIF1A):c.183+16G>T rs117171329
NM_001244008.2(KIF1A):c.183+18G>A
NM_001244008.2(KIF1A):c.183+9G>A
NM_001244008.2(KIF1A):c.1834G>A (p.Glu612Lys)
NM_001244008.2(KIF1A):c.1837C>G (p.Arg613Gly) rs114337184
NM_001244008.2(KIF1A):c.184-15T>A
NM_001244008.2(KIF1A):c.184-15T>C
NM_001244008.2(KIF1A):c.184-16C>T
NM_001244008.2(KIF1A):c.184-5_184-3del
NM_001244008.2(KIF1A):c.184-7C>T
NM_001244008.2(KIF1A):c.1843C>T (p.Arg615Cys)
NM_001244008.2(KIF1A):c.1845C>T (p.Arg615=)
NM_001244008.2(KIF1A):c.1853G>A (p.Cys618Tyr) rs2125905862
NM_001244008.2(KIF1A):c.1856C>A (p.Ala619Glu)
NM_001244008.2(KIF1A):c.1857G>A (p.Ala619=)
NM_001244008.2(KIF1A):c.1858G>A (p.Glu620Lys) rs2125905821
NM_001244008.2(KIF1A):c.1858G>C (p.Glu620Gln)
NM_001244008.2(KIF1A):c.1859A>T (p.Glu620Val)
NM_001244008.2(KIF1A):c.1860G>A (p.Glu620=) rs1575590433
NM_001244008.2(KIF1A):c.1873C>G (p.Pro625Ala)
NM_001244008.2(KIF1A):c.1881C>T (p.Asp627=)
NM_001244008.2(KIF1A):c.1885G>A (p.Ala629Thr)
NM_001244008.2(KIF1A):c.1891G>A (p.Ala631Thr)
NM_001244008.2(KIF1A):c.1892C>T (p.Ala631Val) rs2125905734
NM_001244008.2(KIF1A):c.1912A>G (p.Lys638Glu)
NM_001244008.2(KIF1A):c.1914G>A (p.Lys638=)
NM_001244008.2(KIF1A):c.1917G>A (p.Gln639=)
NM_001244008.2(KIF1A):c.1923C>A (p.Ile641=)
NM_001244008.2(KIF1A):c.1949+13C>A
NM_001244008.2(KIF1A):c.1949+17C>T
NM_001244008.2(KIF1A):c.1949+5G>A
NM_001244008.2(KIF1A):c.1949+8G>A
NM_001244008.2(KIF1A):c.194T>C (p.Ile65Thr) rs2055194876
NM_001244008.2(KIF1A):c.1950-12G>A
NM_001244008.2(KIF1A):c.1950-14A>G
NM_001244008.2(KIF1A):c.1950-16C>T
NM_001244008.2(KIF1A):c.1950-7del rs2125904899
NM_001244008.2(KIF1A):c.195C>T (p.Ile65=)
NM_001244008.2(KIF1A):c.1965G>C (p.Glu655Asp)
NM_001244008.2(KIF1A):c.1974C>T (p.Tyr658=) rs1231529946
NM_001244008.2(KIF1A):c.1976G>A (p.Arg659His)
NM_001244008.2(KIF1A):c.1978C>G (p.Arg660Gly)
NM_001244008.2(KIF1A):c.1978C>T (p.Arg660Cys)
NM_001244008.2(KIF1A):c.1980C>A (p.Arg660=) rs1355197070
NM_001244008.2(KIF1A):c.1984C>T (p.Arg662Trp)
NM_001244008.2(KIF1A):c.1985G>A (p.Arg662Gln)
NM_001244008.2(KIF1A):c.1985G>T (p.Arg662Leu)
NM_001244008.2(KIF1A):c.1986G>A (p.Arg662=)
NM_001244008.2(KIF1A):c.1995C>T (p.Ala665=)
NM_001244008.2(KIF1A):c.1998C>T (p.Thr666=)
NM_001244008.2(KIF1A):c.1999T>C (p.Tyr667His)
NM_001244008.2(KIF1A):c.2001C>T (p.Tyr667=) rs1432995323
NM_001244008.2(KIF1A):c.200dup (p.Tyr67Ter)
NM_001244008.2(KIF1A):c.2010G>A (p.Glu670=)
NM_001244008.2(KIF1A):c.2011C>G (p.Gln671Glu) rs2125904526
NM_001244008.2(KIF1A):c.2016G>A (p.Gln672=) rs2125904510
NM_001244008.2(KIF1A):c.2017C>T (p.Arg673Trp) rs2125904496
NM_001244008.2(KIF1A):c.2022+17del
NM_001244008.2(KIF1A):c.2022+18G>A
NM_001244008.2(KIF1A):c.2022+3G>A rs566702367
NM_001244008.2(KIF1A):c.2022+4A>G rs1019495658
NM_001244008.2(KIF1A):c.2022+9C>A
NM_001244008.2(KIF1A):c.2023-13T>C
NM_001244008.2(KIF1A):c.2023-14C>T
NM_001244008.2(KIF1A):c.2023-3C>T
NM_001244008.2(KIF1A):c.2023-9T>A
NM_001244008.2(KIF1A):c.2026T>A (p.Tyr676Asn)
NM_001244008.2(KIF1A):c.202G>T (p.Ala68Ser)
NM_001244008.2(KIF1A):c.2032A>G (p.Ser678Gly) rs2125902938
NM_001244008.2(KIF1A):c.2034C>G (p.Ser678Arg)
NM_001244008.2(KIF1A):c.2037G>A (p.Lys679=)
NM_001244008.2(KIF1A):c.204G>A (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.2055G>A (p.Lys685=)
NM_001244008.2(KIF1A):c.2059A>G (p.Met687Val)
NM_001244008.2(KIF1A):c.2066C>T (p.Ser689Phe) rs1553633725
NM_001244008.2(KIF1A):c.2069G>A (p.Arg690Lys) rs887974445
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_001244008.2(KIF1A):c.2077C>A (p.Pro693Thr)
NM_001244008.2(KIF1A):c.207G>C (p.Ser69=)
NM_001244008.2(KIF1A):c.2089G>A (p.Glu697Lys)
NM_001244008.2(KIF1A):c.2089GAG[6] (p.Glu701dup) rs771003443
NM_001244008.2(KIF1A):c.208C>A (p.Gln70Lys)
NM_001244008.2(KIF1A):c.2091G>A (p.Glu697=)
NM_001244008.2(KIF1A):c.2094G>A (p.Glu698=)
NM_001244008.2(KIF1A):c.2107G>A (p.Glu703Lys) rs766192418
NM_001244008.2(KIF1A):c.210G>A (p.Gln70=)
NM_001244008.2(KIF1A):c.2116+11A>C rs1191204376
NM_001244008.2(KIF1A):c.2116+11A>G
NM_001244008.2(KIF1A):c.2116+18C>T
NM_001244008.2(KIF1A):c.2116+18del
NM_001244008.2(KIF1A):c.2116+1G>C rs1553633687
NM_001244008.2(KIF1A):c.2116+6G>A
NM_001244008.2(KIF1A):c.2116+8G>T rs761955667
NM_001244008.2(KIF1A):c.2116+9T>A
NM_001244008.2(KIF1A):c.2116+9T>C rs199922247
NM_001244008.2(KIF1A):c.2117-12del rs2125894817
NM_001244008.2(KIF1A):c.2117-16dup rs2125894838
NM_001244008.2(KIF1A):c.2117-17G>A
NM_001244008.2(KIF1A):c.2117-19G>T
NM_001244008.2(KIF1A):c.2117-5C>G
NM_001244008.2(KIF1A):c.2121G>A (p.Gln707=)
NM_001244008.2(KIF1A):c.2125A>G (p.Thr709Ala)
NM_001244008.2(KIF1A):c.2131C>A (p.Arg711=)
NM_001244008.2(KIF1A):c.2131C>T (p.Arg711Trp) rs767543598
NM_001244008.2(KIF1A):c.2135A>C (p.Glu712Ala)
NM_001244008.2(KIF1A):c.2140G>A (p.Glu714Lys) rs2125894580
NM_001244008.2(KIF1A):c.2142G>A (p.Glu714=)
NM_001244008.2(KIF1A):c.2142G>C (p.Glu714Asp)
NM_001244008.2(KIF1A):c.2143C>G (p.Leu715Val) rs775705762
NM_001244008.2(KIF1A):c.2150T>C (p.Leu717Pro) rs2125894495
NM_001244008.2(KIF1A):c.2156C>T (p.Ala719Val)
NM_001244008.2(KIF1A):c.2162G>A (p.Arg721Gln) rs1159860840
NM_001244008.2(KIF1A):c.2166G>A (p.Lys722=)
NM_001244008.2(KIF1A):c.218T>C (p.Val73Ala) rs2126092219
NM_001244008.2(KIF1A):c.2194C>T (p.Arg732Trp) rs750310823
NM_001244008.2(KIF1A):c.2195G>A (p.Arg732Gln) rs2050497130
NM_001244008.2(KIF1A):c.2196G>C (p.Arg732=) rs2125894254
NM_001244008.2(KIF1A):c.2199C>T (p.Asp733=) rs1242337363
NM_001244008.2(KIF1A):c.21G>A (p.Lys7=) rs1287769804
NM_001244008.2(KIF1A):c.2200C>T (p.Leu734=)
NM_001244008.2(KIF1A):c.2211C>G (p.Gly737=)
NM_001244008.2(KIF1A):c.2213A>G (p.Asn738Ser) rs1559506707
NM_001244008.2(KIF1A):c.2215G>C (p.Ala739Pro) rs1373179079
NM_001244008.2(KIF1A):c.2218A>G (p.Ile740Val) rs2125894030
NM_001244008.2(KIF1A):c.2227A>G (p.Lys743Glu)
NM_001244008.2(KIF1A):c.2237A>G (p.Asn746Ser)
NM_001244008.2(KIF1A):c.224G>A (p.Arg75Gln)
NM_001244008.2(KIF1A):c.2251G>A (p.Glu751Lys) rs2050492597
NM_001244008.2(KIF1A):c.2259A>G (p.Lys753=)
NM_001244008.2(KIF1A):c.2265+19G>A rs748907935
NM_001244008.2(KIF1A):c.2265+5G>A rs2050490864
NM_001244008.2(KIF1A):c.2266-12C>T
NM_001244008.2(KIF1A):c.2266-17A>G
NM_001244008.2(KIF1A):c.2266-20del
NM_001244008.2(KIF1A):c.2266-4A>C rs760023084
NM_001244008.2(KIF1A):c.2266-7G>A
NM_001244008.2(KIF1A):c.2266-9_2266-8del
NM_001244008.2(KIF1A):c.2270_2271del (p.Gln757fs) rs2125890780
NM_001244008.2(KIF1A):c.2273T>G (p.Phe758Cys)
NM_001244008.2(KIF1A):c.2280T>C (p.Phe760=) rs1575587120
NM_001244008.2(KIF1A):c.2291C>A (p.Thr764Lys)
NM_001244008.2(KIF1A):c.2294A>G (p.Asp765Gly) rs2125890668
NM_001244008.2(KIF1A):c.2299C>T (p.Leu767Phe) rs1402187925
NM_001244008.2(KIF1A):c.2304C>T (p.Tyr768=) rs1479375354
NM_001244008.2(KIF1A):c.2310T>A (p.Pro770=)
NM_001244008.2(KIF1A):c.2314C>T (p.Pro772Ser) rs1254232491
NM_001244008.2(KIF1A):c.2317C>T (p.Pro773Ser)
NM_001244008.2(KIF1A):c.2319C>A (p.Pro773=) rs372521119
NM_001244008.2(KIF1A):c.2321A>T (p.Asp774Val)
NM_001244008.2(KIF1A):c.2322C>A (p.Asp774Glu)
NM_001244008.2(KIF1A):c.2323C>A (p.Leu775Met)
NM_001244008.2(KIF1A):c.2325G>A (p.Leu775=)
NM_001244008.2(KIF1A):c.2328G>A (p.Leu776=)
NM_001244008.2(KIF1A):c.2328G>T (p.Leu776=) rs2125890489
NM_001244008.2(KIF1A):c.2329C>T (p.Pro777Ser)
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_001244008.2(KIF1A):c.2331C>G (p.Pro777=) rs201495091
NM_001244008.2(KIF1A):c.2342C>A (p.Ala781Asp)
NM_001244008.2(KIF1A):c.2345A>G (p.Lys782Arg)
NM_001244008.2(KIF1A):c.2347G>C (p.Asp783His) rs1441080561
NM_001244008.2(KIF1A):c.2347G>T (p.Asp783Tyr) rs1441080561
NM_001244008.2(KIF1A):c.2349C>T (p.Asp783=)
NM_001244008.2(KIF1A):c.234C>A (p.Gly78=) rs61744930
NM_001244008.2(KIF1A):c.2350C>A (p.Arg784=)
NM_001244008.2(KIF1A):c.2350C>G (p.Arg784Gly) rs1327297188
NM_001244008.2(KIF1A):c.2350C>T (p.Arg784Ter) rs1327297188
NM_001244008.2(KIF1A):c.2351G>A (p.Arg784Gln) rs375290825
NM_001244008.2(KIF1A):c.2360G>A (p.Arg787Gln) rs372487596
NM_001244008.2(KIF1A):c.2360G>T (p.Arg787Leu) rs372487596
NM_001244008.2(KIF1A):c.2367C>T (p.Phe789=)
NM_001244008.2(KIF1A):c.2368C>T (p.Pro790Ser)
NM_001244008.2(KIF1A):c.2371C>A (p.Arg791Ser)
NM_001244008.2(KIF1A):c.2372G>A (p.Arg791His)
NM_001244008.2(KIF1A):c.2372G>T (p.Arg791Leu)
NM_001244008.2(KIF1A):c.2375C>T (p.Thr792Ile)
NM_001244008.2(KIF1A):c.237G>A (p.Glu79=)
NM_001244008.2(KIF1A):c.2389G>T (p.Glu797Ter) rs2125889990
NM_001244008.2(KIF1A):c.2391G>A (p.Glu797=) rs1575586921
NM_001244008.2(KIF1A):c.2397G>A (p.Gln799=) rs2050402788
NM_001244008.2(KIF1A):c.23T>C (p.Val8Ala)
NM_001244008.2(KIF1A):c.2401C>A (p.Gln801Lys) rs2125889915
NM_001244008.2(KIF1A):c.2401C>G (p.Gln801Glu)
NM_001244008.2(KIF1A):c.2413G>A (p.Ala805Thr) rs2125889858
NM_001244008.2(KIF1A):c.2415C>A (p.Ala805=)
NM_001244008.2(KIF1A):c.2423A>G (p.Tyr808Cys)
NM_001244008.2(KIF1A):c.2424C>T (p.Tyr808=)
NM_001244008.2(KIF1A):c.242T>C (p.Met81Thr)
NM_001244008.2(KIF1A):c.2430G>T (p.Thr810=) rs371805653
NM_001244008.2(KIF1A):c.2435A>T (p.Glu812Val)
NM_001244008.2(KIF1A):c.2441T>A (p.Leu814His)
NM_001244008.2(KIF1A):c.2444+10G>C
NM_001244008.2(KIF1A):c.2444+14G>A
NM_001244008.2(KIF1A):c.2444+16C>T
NM_001244008.2(KIF1A):c.2444+17G>T rs749470460
NM_001244008.2(KIF1A):c.2444+6G>T
NM_001244008.2(KIF1A):c.2444+8T>G
NM_001244008.2(KIF1A):c.2445-11C>T rs759214934
NM_001244008.2(KIF1A):c.2445-15C>T rs2050133127
NM_001244008.2(KIF1A):c.2445-16C>A
NM_001244008.2(KIF1A):c.2445-17C>T
NM_001244008.2(KIF1A):c.2445-3del
NM_001244008.2(KIF1A):c.2445-8_2445-3del
NM_001244008.2(KIF1A):c.2449C>A (p.Arg817Ser)
NM_001244008.2(KIF1A):c.2450G>A (p.Arg817His)
NM_001244008.2(KIF1A):c.2451del (p.Leu818fs)
NM_001244008.2(KIF1A):c.2454G>A (p.Leu818=)
NM_001244008.2(KIF1A):c.2455G>A (p.Asp819Asn)
NM_001244008.2(KIF1A):c.2460G>A (p.Leu820=)
NM_001244008.2(KIF1A):c.2464C>A (p.Arg822=)
NM_001244008.2(KIF1A):c.2464C>T (p.Arg822Trp) rs1328033713
NM_001244008.2(KIF1A):c.2466G>T (p.Arg822=) rs2125875605
NM_001244008.2(KIF1A):c.2488G>A (p.Glu830Lys)
NM_001244008.2(KIF1A):c.248A>T (p.Gln83Leu) rs1575637032
NM_001244008.2(KIF1A):c.2493G>A (p.Val831=)
NM_001244008.2(KIF1A):c.2493G>T (p.Val831=) rs201861261
NM_001244008.2(KIF1A):c.2497T>C (p.Ser833Pro)
NM_001244008.2(KIF1A):c.2500A>G (p.Ser834Gly)
NM_001244008.2(KIF1A):c.2503G>A (p.Val835Ile)
NM_001244008.2(KIF1A):c.2508C>A (p.Ile836=)
NM_001244008.2(KIF1A):c.2509G>A (p.Glu837Lys)
NM_001244008.2(KIF1A):c.2512G>T (p.Asp838Tyr)
NM_001244008.2(KIF1A):c.2517T>C (p.Cys839=)
NM_001244008.2(KIF1A):c.2523C>G (p.Asn841Lys)
NM_001244008.2(KIF1A):c.2524G>A (p.Val842Met)
NM_001244008.2(KIF1A):c.2530A>G (p.Thr844Ala)
NM_001244008.2(KIF1A):c.2533G>T (p.Gly845Cys) rs761671317
NM_001244008.2(KIF1A):c.2535C>T (p.Gly845=)
NM_001244008.2(KIF1A):c.2541C>T (p.Asp847=)
NM_001244008.2(KIF1A):c.2544C>T (p.Pro848=) rs2125875170
NM_001244008.2(KIF1A):c.2547C>T (p.Phe849=) rs2050120947
NM_001244008.2(KIF1A):c.2548T>C (p.Tyr850His)
NM_001244008.2(KIF1A):c.254C>A (p.Ala85Asp) rs1553639041
NM_001244008.2(KIF1A):c.254C>G (p.Ala85Gly) rs1553639041
NM_001244008.2(KIF1A):c.2553C>T (p.Asp851=) rs2050120319
NM_001244008.2(KIF1A):c.2554C>T (p.Arg852Cys) rs1174253803
NM_001244008.2(KIF1A):c.2556C>T (p.Arg852=)
NM_001244008.2(KIF1A):c.2557T>C (p.Phe853Leu)
NM_001244008.2(KIF1A):c.2568C>T (p.Phe856=) rs2125875017
NM_001244008.2(KIF1A):c.2581A>C (p.Ser861Arg)
NM_001244008.2(KIF1A):c.2582+11C>G
NM_001244008.2(KIF1A):c.2582+14C>G
NM_001244008.2(KIF1A):c.2582+17T>G rs1407757292
NM_001244008.2(KIF1A):c.2582+19C>T rs2125874702
NM_001244008.2(KIF1A):c.2582+19_2582+22del
NM_001244008.2(KIF1A):c.2582+1G>A rs2125874950
NM_001244008.2(KIF1A):c.2582+5del rs1245211774
NM_001244008.2(KIF1A):c.2582+6C>T
NM_001244008.2(KIF1A):c.2582+8C>A rs2125874867
NM_001244008.2(KIF1A):c.2582+9C>A
NM_001244008.2(KIF1A):c.266A>T (p.Tyr89Phe)
NM_001244008.2(KIF1A):c.273G>T (p.Val91=) rs1409707032
NM_001244008.2(KIF1A):c.278T>A (p.Ile93Asn)
NM_001244008.2(KIF1A):c.278_307del (p.Ile93_Gly102del)
NM_001244008.2(KIF1A):c.283G>A (p.Ala95Thr) rs1466280322
NM_001244008.2(KIF1A):c.284C>A (p.Ala95Asp) rs2126091878
NM_001244008.2(KIF1A):c.284C>T (p.Ala95Val) rs2126091878
NM_001244008.2(KIF1A):c.2859-11C>T
NM_001244008.2(KIF1A):c.2859-17C>T
NM_001244008.2(KIF1A):c.2859-18G>C rs150076186
NM_001244008.2(KIF1A):c.2859-8C>T
NM_001244008.2(KIF1A):c.2859G>A (p.Arg953=)
NM_001244008.2(KIF1A):c.2866G>A (p.Val956Met)
NM_001244008.2(KIF1A):c.2871C>T (p.Tyr957=)
NM_001244008.2(KIF1A):c.2872C>G (p.Leu958Val)
NM_001244008.2(KIF1A):c.2874G>A (p.Leu958=)
NM_001244008.2(KIF1A):c.2881C>T (p.Leu961=)
NM_001244008.2(KIF1A):c.2886G>A (p.Leu962=)
NM_001244008.2(KIF1A):c.2888A>T (p.Tyr963Phe) rs2125825238
NM_001244008.2(KIF1A):c.288T>C (p.Tyr96=)
NM_001244008.2(KIF1A):c.2890C>G (p.Pro964Ala)
NM_001244008.2(KIF1A):c.2892C>G (p.Pro964=) rs771617148
NM_001244008.2(KIF1A):c.2892C>T (p.Pro964=)
NM_001244008.2(KIF1A):c.2905C>G (p.His969Asp)
NM_001244008.2(KIF1A):c.2907C>T (p.His969=) rs1575571380
NM_001244008.2(KIF1A):c.2908C>G (p.Arg970Gly)
NM_001244008.2(KIF1A):c.2917A>G (p.Ile973Val)
NM_001244008.2(KIF1A):c.2919C>T (p.Ile973=)
NM_001244008.2(KIF1A):c.291G>A (p.Gly97=) rs2126091844
NM_001244008.2(KIF1A):c.2926G>A (p.Glu976Lys) rs1488991591
NM_001244008.2(KIF1A):c.2931G>A (p.Lys977=)
NM_001244008.2(KIF1A):c.2935G>A (p.Glu979Lys)
NM_001244008.2(KIF1A):c.2938G>A (p.Val980Met)
NM_001244008.2(KIF1A):c.293A>G (p.Gln98Arg) rs2126091834
NM_001244008.2(KIF1A):c.2946C>A (p.Gly982=) rs763345238
NM_001244008.2(KIF1A):c.2949C>A (p.Phe983Leu)
NM_001244008.2(KIF1A):c.2949C>T (p.Phe983=) rs375672100
NM_001244008.2(KIF1A):c.2950C>G (p.Leu984Val)
NM_001244008.2(KIF1A):c.2956G>A (p.Val986Met)
NM_001244008.2(KIF1A):c.2956G>C (p.Val986Leu)
NM_001244008.2(KIF1A):c.2962G>T (p.Val988Phe)
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met) rs387906799
NM_001244008.2(KIF1A):c.2970C>A (p.Ala990=)
NM_001244008.2(KIF1A):c.2971A>G (p.Ile991Val) rs2125824773
NM_001244008.2(KIF1A):c.2977+16A>G
NM_001244008.2(KIF1A):c.2977+20C>A rs770943608
NM_001244008.2(KIF1A):c.2977+4C>T rs1447106610
NM_001244008.2(KIF1A):c.2978-11T>G
NM_001244008.2(KIF1A):c.2978-14T>G rs964376899
NM_001244008.2(KIF1A):c.2978-15C>A rs1259929963
NM_001244008.2(KIF1A):c.2978-15C>G
NM_001244008.2(KIF1A):c.2978-17C>T
NM_001244008.2(KIF1A):c.2978-20T>C
NM_001244008.2(KIF1A):c.2978-3C>T rs1318205052
NM_001244008.2(KIF1A):c.2978-3del
NM_001244008.2(KIF1A):c.2978-8T>C rs1281412370
NM_001244008.2(KIF1A):c.2978-9C>T
NM_001244008.2(KIF1A):c.2978C>G (p.Ala993Gly)
NM_001244008.2(KIF1A):c.2978C>T (p.Ala993Val) rs2048715883
NM_001244008.2(KIF1A):c.2980G>A (p.Asp994Asn) rs2048715379
NM_001244008.2(KIF1A):c.2980G>T (p.Asp994Tyr)
NM_001244008.2(KIF1A):c.2990C>A (p.Ala997Asp)
NM_001244008.2(KIF1A):c.2990C>T (p.Ala997Val)
NM_001244008.2(KIF1A):c.2992C>T (p.Pro998Ser)
NM_001244008.2(KIF1A):c.3008G>A (p.Gly1003Asp) rs2125802872
NM_001244008.2(KIF1A):c.3009C>A (p.Gly1003=)
NM_001244008.2(KIF1A):c.300T>A (p.Gly100=)
NM_001244008.2(KIF1A):c.3013C>T (p.Arg1005Cys)
NM_001244008.2(KIF1A):c.3014G>A (p.Arg1005His)
NM_001244008.2(KIF1A):c.3029C>T (p.Ala1010Val)
NM_001244008.2(KIF1A):c.302C>A (p.Ala101Asp) rs2126091776
NM_001244008.2(KIF1A):c.3030T>G (p.Ala1010=) rs2125802677
NM_001244008.2(KIF1A):c.3033A>G (p.Lys1011=) rs2125802666
NM_001244008.2(KIF1A):c.3038C>T (p.Ser1013Phe)
NM_001244008.2(KIF1A):c.3039C>T (p.Ser1013=)
NM_001244008.2(KIF1A):c.3041T>A (p.Phe1014Tyr)
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_001244008.2(KIF1A):c.3054T>G (p.His1018Gln) rs2125802513
NM_001244008.2(KIF1A):c.3063+13C>A
NM_001244008.2(KIF1A):c.3063+15C>T
NM_001244008.2(KIF1A):c.3063+17C>G rs116040950
NM_001244008.2(KIF1A):c.3063+17del
NM_001244008.2(KIF1A):c.3063+7A>G
NM_001244008.2(KIF1A):c.3063+8G>A
NM_001244008.2(KIF1A):c.3063+9C>T
NM_001244008.2(KIF1A):c.3064-11C>A
NM_001244008.2(KIF1A):c.3064-7T>C
NM_001244008.2(KIF1A):c.3064-9T>C
NM_001244008.2(KIF1A):c.3069G>A (p.Gln1023=)
NM_001244008.2(KIF1A):c.3069G>C (p.Gln1023His)
NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=) rs73102625
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=) rs73102625
NM_001244008.2(KIF1A):c.3074_3075dup (p.Cys1027fs)
NM_001244008.2(KIF1A):c.3081C>T (p.Cys1027=) rs527351529
NM_001244008.2(KIF1A):c.3084C>T (p.Pro1028=)
NM_001244008.2(KIF1A):c.3087G>A (p.Val1029=)
NM_001244008.2(KIF1A):c.3087G>C (p.Val1029=) rs2125793925
NM_001244008.2(KIF1A):c.3093G>A (p.Gly1031=)
NM_001244008.2(KIF1A):c.3096G>T (p.Met1032Ile)
NM_001244008.2(KIF1A):c.3097T>C (p.Ser1033Pro)
NM_001244008.2(KIF1A):c.3101G>T (p.Arg1034Leu) rs375775494
NM_001244008.2(KIF1A):c.3107G>A (p.Gly1036Glu)
NM_001244008.2(KIF1A):c.3109A>G (p.Thr1037Ala)
NM_001244008.2(KIF1A):c.3112T>G (p.Ser1038Ala)
NM_001244008.2(KIF1A):c.3117G>A (p.Gln1039=)
NM_001244008.2(KIF1A):c.3127C>T (p.Arg1043Cys)
NM_001244008.2(KIF1A):c.3128G>A (p.Arg1043His)
NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=) rs373045276
NM_001244008.2(KIF1A):c.3132C>T (p.Ile1044=) rs373045276
NM_001244008.2(KIF1A):c.3133G>A (p.Val1045Met) rs2125793618
NM_001244008.2(KIF1A):c.3138G>A (p.Glu1046=) rs1553630555
NM_001244008.2(KIF1A):c.3140G>A (p.Gly1047Asp)
NM_001244008.2(KIF1A):c.3141CCAGGG[3] (p.1048QG[3]) rs2048566783
NM_001244008.2(KIF1A):c.3143A>G (p.Gln1048Arg) rs2125793579
NM_001244008.2(KIF1A):c.3147C>T (p.Gly1049=)
NM_001244008.2(KIF1A):c.3152G>C (p.Gly1051Ala)
NM_001244008.2(KIF1A):c.3155C>T (p.Ala1052Val)
NM_001244008.2(KIF1A):c.3160G>C (p.Val1054Leu)
NM_001244008.2(KIF1A):c.3160G>T (p.Val1054Leu)
NM_001244008.2(KIF1A):c.3163G>C (p.Gly1055Arg)
NM_001244008.2(KIF1A):c.3166C>A (p.Pro1056Thr)
NM_001244008.2(KIF1A):c.3166C>G (p.Pro1056Ala)
NM_001244008.2(KIF1A):c.3174C>T (p.Ala1058=)
NM_001244008.2(KIF1A):c.3175G>A (p.Asp1059Asn)
NM_001244008.2(KIF1A):c.3181G>A (p.Val1061Ile)
NM_001244008.2(KIF1A):c.3183C>T (p.Val1061=)
NM_001244008.2(KIF1A):c.3185ACA[2] (p.Asn1064del)
NM_001244008.2(KIF1A):c.318C>T (p.Thr106=)
NM_001244008.2(KIF1A):c.3194C>T (p.Thr1065Ile)
NM_001244008.2(KIF1A):c.3197G>C (p.Cys1066Ser)
NM_001244008.2(KIF1A):c.3198T>C (p.Cys1066=)
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_001244008.2(KIF1A):c.3202+13C>T
NM_001244008.2(KIF1A):c.3202+15C>T
NM_001244008.2(KIF1A):c.3202+16C>A
NM_001244008.2(KIF1A):c.3202+4G>A
NM_001244008.2(KIF1A):c.3202+6T>C
NM_001244008.2(KIF1A):c.3202G>T (p.Ala1068Ser)
NM_001244008.2(KIF1A):c.3203-11A>T
NM_001244008.2(KIF1A):c.3203-14T>A
NM_001244008.2(KIF1A):c.3203-17T>A rs375105783
NM_001244008.2(KIF1A):c.3203-4G>C
NM_001244008.2(KIF1A):c.3203C>G (p.Ala1068Gly)
NM_001244008.2(KIF1A):c.3204A>C (p.Ala1068=) rs2048540078
NM_001244008.2(KIF1A):c.3208C>T (p.Pro1070Ser)
NM_001244008.2(KIF1A):c.3210C>G (p.Pro1070=) rs1027940908
NM_001244008.2(KIF1A):c.3210C>T (p.Pro1070=)
NM_001244008.2(KIF1A):c.3211C>G (p.Pro1071Ala)
NM_001244008.2(KIF1A):c.3213A>G (p.Pro1071=) rs201232478
NM_001244008.2(KIF1A):c.3218G>A (p.Gly1073Asp) rs755669671
NM_001244008.2(KIF1A):c.3219CCT[2] (p.Leu1076del) rs1167417315
NM_001244008.2(KIF1A):c.3222C>T (p.Leu1074=)
NM_001244008.2(KIF1A):c.3234C>T (p.Ser1078=)
NM_001244008.2(KIF1A):c.3237T>C (p.Ser1079=) rs1378987029
NM_001244008.2(KIF1A):c.323T>A (p.Met108Lys)
NM_001244008.2(KIF1A):c.3246C>G (p.Ala1082=) rs368682964
NM_001244008.2(KIF1A):c.3247_3248delinsCT (p.Ala1083Leu)
NM_001244008.2(KIF1A):c.325G>C (p.Gly109Arg)
NM_001244008.2(KIF1A):c.3261C>A (p.Pro1087=)
NM_001244008.2(KIF1A):c.3261C>T (p.Pro1087=) rs867906794
NM_001244008.2(KIF1A):c.3268G>A (p.Ala1090Thr) rs2125791623
NM_001244008.2(KIF1A):c.326G>A (p.Gly109Asp)
NM_001244008.2(KIF1A):c.3275T>C (p.Leu1092Pro)
NM_001244008.2(KIF1A):c.3289C>G (p.Leu1097Val)
NM_001244008.2(KIF1A):c.3293G>A (p.Gly1098Asp)
NM_001244008.2(KIF1A):c.3294C>T (p.Gly1098=)
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001244008.2(KIF1A):c.32G>T (p.Arg11Leu) rs1575654528
NM_001244008.2(KIF1A):c.3300C>T (p.Thr1100=)
NM_001244008.2(KIF1A):c.3303C>T (p.Phe1101=) rs2125791372
NM_001244008.2(KIF1A):c.3309C>T (p.Phe1103=)
NM_001244008.2(KIF1A):c.3310C>T (p.Arg1104Cys) rs986710765
NM_001244008.2(KIF1A):c.3311G>A (p.Arg1104His)
NM_001244008.2(KIF1A):c.3320T>C (p.Val1107Ala) rs2125791301
NM_001244008.2(KIF1A):c.3327G>A (p.Gln1109=) rs752843807
NM_001244008.2(KIF1A):c.332A>G (p.Gln111Arg)
NM_001244008.2(KIF1A):c.3335G>T (p.Ser1112Ile)
NM_001244008.2(KIF1A):c.3339C>A (p.Ile1113=)
NM_001244008.2(KIF1A):c.3343G>A (p.Ala1115Thr)
NM_001244008.2(KIF1A):c.3344C>T (p.Ala1115Val)
NM_001244008.2(KIF1A):c.3345C>A (p.Ala1115=) rs370286749
NM_001244008.2(KIF1A):c.3345C>T (p.Ala1115=) rs370286749
NM_001244008.2(KIF1A):c.3347A>G (p.Glu1116Gly)
NM_001244008.2(KIF1A):c.334_336del (p.Glu112del) rs2055179296
NM_001244008.2(KIF1A):c.3355G>A (p.Asp1119Asn) rs2125791109
NM_001244008.2(KIF1A):c.3357C>G (p.Asp1119Glu) rs2125791096
NM_001244008.2(KIF1A):c.3363C>T (p.Phe1121=)
NM_001244008.2(KIF1A):c.3369G>A (p.Gln1123=)
NM_001244008.2(KIF1A):c.3374+12C>T
NM_001244008.2(KIF1A):c.3374+14G>T rs2125790916
NM_001244008.2(KIF1A):c.3374+15C>T rs560192389
NM_001244008.2(KIF1A):c.3374+17T>A
NM_001244008.2(KIF1A):c.3374+2T>G rs2125791006
NM_001244008.2(KIF1A):c.3374+3G>A
NM_001244008.2(KIF1A):c.3374+7C>A
NM_001244008.2(KIF1A):c.3375-19C>T
NM_001244008.2(KIF1A):c.3375-20G>A
NM_001244008.2(KIF1A):c.3375-20G>T
NM_001244008.2(KIF1A):c.3375-5del rs2125789051
NM_001244008.2(KIF1A):c.3375-9G>A
NM_001244008.2(KIF1A):c.3379A>C (p.Ile1127Leu) rs2125789013
NM_001244008.2(KIF1A):c.337A>G (p.Lys113Glu)
NM_001244008.2(KIF1A):c.3381C>T (p.Ile1127=)
NM_001244008.2(KIF1A):c.3391G>A (p.Asp1131Asn)
NM_001244008.2(KIF1A):c.3393C>A (p.Asp1131Glu) rs776221706
NM_001244008.2(KIF1A):c.3393C>T (p.Asp1131=)
NM_001244008.2(KIF1A):c.3394G>A (p.Glu1132Lys)
NM_001244008.2(KIF1A):c.3397G>A (p.Ala1133Thr)
NM_001244008.2(KIF1A):c.3399C>G (p.Ala1133=) rs2125788838
NM_001244008.2(KIF1A):c.3399C>T (p.Ala1133=) rs2125788838
NM_001244008.2(KIF1A):c.3402C>G (p.Phe1134Leu)
NM_001244008.2(KIF1A):c.3412C>T (p.Pro1138Ser) rs2048479919
NM_001244008.2(KIF1A):c.3415C>G (p.Leu1139Val)
NM_001244008.2(KIF1A):c.3443T>G (p.Leu1148Arg)
NM_001244008.2(KIF1A):c.3451T>C (p.Tyr1151His)
NM_001244008.2(KIF1A):c.3457G>A (p.Val1153Ile)
NM_001244008.2(KIF1A):c.3462G>A (p.Gln1154=)
NM_001244008.2(KIF1A):c.3463A>G (p.Asn1155Asp)
NM_001244008.2(KIF1A):c.3465+10T>A rs2125788532
NM_001244008.2(KIF1A):c.3465+11G>A
NM_001244008.2(KIF1A):c.3465+17T>G
NM_001244008.2(KIF1A):c.3465+1G>A
NM_001244008.2(KIF1A):c.3466-11C>T rs1559494216
NM_001244008.2(KIF1A):c.3466-13del
NM_001244008.2(KIF1A):c.3466-15C>T
NM_001244008.2(KIF1A):c.3466-17A>T
NM_001244008.2(KIF1A):c.3466-3C>T
NM_001244008.2(KIF1A):c.3466-4C>G
NM_001244008.2(KIF1A):c.3466-9G>A rs1359954480
NM_001244008.2(KIF1A):c.3468C>A (p.Ile1156=)
NM_001244008.2(KIF1A):c.3469G>A (p.Ala1157Thr) rs757444259
NM_001244008.2(KIF1A):c.3469G>T (p.Ala1157Ser)
NM_001244008.2(KIF1A):c.3494T>A (p.Ile1165Asn) rs35698242
NM_001244008.2(KIF1A):c.349G>A (p.Gly117Ser) rs2126091591
NM_001244008.2(KIF1A):c.34G>A (p.Val12Ile)
NM_001244008.2(KIF1A):c.3507G>A (p.Lys1169=)
NM_001244008.2(KIF1A):c.350G>A (p.Gly117Asp) rs1200817308
NM_001244008.2(KIF1A):c.3515C>T (p.Pro1172Leu) rs2048306205
NM_001244008.2(KIF1A):c.3519T>C (p.Ile1173=)
NM_001244008.2(KIF1A):c.3526G>A (p.Glu1176Lys)
NM_001244008.2(KIF1A):c.3529G>A (p.Val1177Ile)
NM_001244008.2(KIF1A):c.3530T>C (p.Val1177Ala)
NM_001244008.2(KIF1A):c.353T>A (p.Ile118Asn)
NM_001244008.2(KIF1A):c.3540C>A (p.His1180Gln)
NM_001244008.2(KIF1A):c.3543C>T (p.Tyr1181=)
NM_001244008.2(KIF1A):c.3546G>A (p.Gln1182=) rs2048304848
NM_001244008.2(KIF1A):c.354C>T (p.Ile118=)
NM_001244008.2(KIF1A):c.3552C>T (p.His1184=) rs2125777741
NM_001244008.2(KIF1A):c.3560C>T (p.Pro1187Leu)
NM_001244008.2(KIF1A):c.3561G>A (p.Pro1187=) rs375702153
NM_001244008.2(KIF1A):c.3561G>T (p.Pro1187=) rs375702153
NM_001244008.2(KIF1A):c.3562C>A (p.Pro1188Thr)
NM_001244008.2(KIF1A):c.3562C>T (p.Pro1188Ser) rs1314580146
NM_001244008.2(KIF1A):c.3564C>T (p.Pro1188=)
NM_001244008.2(KIF1A):c.356T>A (p.Ile119Asn) rs1482769652
NM_001244008.2(KIF1A):c.3570C>T (p.Cys1190=) rs2125777593
NM_001244008.2(KIF1A):c.3577G>A (p.Val1193Met)
NM_001244008.2(KIF1A):c.3577G>C (p.Val1193Leu)
NM_001244008.2(KIF1A):c.3584+12G>A
NM_001244008.2(KIF1A):c.3584+13G>A
NM_001244008.2(KIF1A):c.3584+16C>A rs773804422
NM_001244008.2(KIF1A):c.3584+17G>A rs533159208
NM_001244008.2(KIF1A):c.3584+17G>T
NM_001244008.2(KIF1A):c.3584+18G>A
NM_001244008.2(KIF1A):c.3584+8C>A
NM_001244008.2(KIF1A):c.3584+9C>T
NM_001244008.2(KIF1A):c.3585-16G>T
NM_001244008.2(KIF1A):c.3585-4A>G rs755269372
NM_001244008.2(KIF1A):c.3585-5C>T rs779286188
NM_001244008.2(KIF1A):c.3585C>A (p.Ser1195Arg)
NM_001244008.2(KIF1A):c.3586C>G (p.Pro1196Ala)
NM_001244008.2(KIF1A):c.3587C>G (p.Pro1196Arg) rs754421385
NM_001244008.2(KIF1A):c.3596C>G (p.Pro1199Arg)
NM_001244008.2(KIF1A):c.3605G>A (p.Arg1202His) rs770764947
NM_001244008.2(KIF1A):c.3605G>T (p.Arg1202Leu) rs770764947
NM_001244008.2(KIF1A):c.3609C>A (p.His1203Gln) rs1195379895
NM_001244008.2(KIF1A):c.360A>G (p.Pro120=) rs1208225744
NM_001244008.2(KIF1A):c.3616C>G (p.Arg1206Gly)
NM_001244008.2(KIF1A):c.3617G>T (p.Arg1206Leu) rs369849214
NM_001244008.2(KIF1A):c.361C>T (p.Gln121Ter) rs1318848388
NM_001244008.2(KIF1A):c.3624G>A (p.Met1208Ile) rs2125769146
NM_001244008.2(KIF1A):c.3625C>T (p.Pro1209Ser)
NM_001244008.2(KIF1A):c.3626C>T (p.Pro1209Leu) rs1559493171
NM_001244008.2(KIF1A):c.363+10G>A
NM_001244008.2(KIF1A):c.363+10G>C
NM_001244008.2(KIF1A):c.363+12G>A rs1454996329
NM_001244008.2(KIF1A):c.363+13G>A
NM_001244008.2(KIF1A):c.363+14G>A
NM_001244008.2(KIF1A):c.363+15del
NM_001244008.2(KIF1A):c.363+16C>G rs7594569
NM_001244008.2(KIF1A):c.363+18G>T rs1188103117
NM_001244008.2(KIF1A):c.363+19G>T rs2126091171
NM_001244008.2(KIF1A):c.363+19del rs1426984408
NM_001244008.2(KIF1A):c.363+20C>A
NM_001244008.2(KIF1A):c.363+20C>G rs199804274
NM_001244008.2(KIF1A):c.363+4C>G
NM_001244008.2(KIF1A):c.363+5G>A
NM_001244008.2(KIF1A):c.363+7A>C rs1396977726
NM_001244008.2(KIF1A):c.363+7A>T rs1396977726
NM_001244008.2(KIF1A):c.363+9C>G rs368803931
NM_001244008.2(KIF1A):c.3639A>T (p.Pro1213=)
NM_001244008.2(KIF1A):c.364-11C>A rs373047635
NM_001244008.2(KIF1A):c.364-11C>G
NM_001244008.2(KIF1A):c.364-11C>T rs373047635
NM_001244008.2(KIF1A):c.364-11del
NM_001244008.2(KIF1A):c.364-11dup
NM_001244008.2(KIF1A):c.364-12C>G
NM_001244008.2(KIF1A):c.364-15C>T rs761162677
NM_001244008.2(KIF1A):c.364-16C>A
NM_001244008.2(KIF1A):c.364-16C>G rs888143243
NM_001244008.2(KIF1A):c.364-16C>T rs888143243
NM_001244008.2(KIF1A):c.364-17T>G
NM_001244008.2(KIF1A):c.364-19T>C
NM_001244008.2(KIF1A):c.364-3C>A rs2055065906
NM_001244008.2(KIF1A):c.3640+11T>A
NM_001244008.2(KIF1A):c.3640+4G>A
NM_001244008.2(KIF1A):c.3640+7A>G
NM_001244008.2(KIF1A):c.3641-10G>A
NM_001244008.2(KIF1A):c.3641-19C>T
NM_001244008.2(KIF1A):c.3646G>T (p.Ala1216Ser)
NM_001244008.2(KIF1A):c.3652A>G (p.Lys1218Glu) rs2125754721
NM_001244008.2(KIF1A):c.365T>C (p.Leu122Pro)
NM_001244008.2(KIF1A):c.3663A>T (p.Thr1221=)
NM_001244008.2(KIF1A):c.3669G>A (p.Thr1223=) rs371491091
NM_001244008.2(KIF1A):c.3669G>T (p.Thr1223=)
NM_001244008.2(KIF1A):c.3673C>T (p.Pro1225Ser)
NM_001244008.2(KIF1A):c.3675C>T (p.Pro1225=)
NM_001244008.2(KIF1A):c.3687C>G (p.Pro1229=) rs2125754433
NM_001244008.2(KIF1A):c.3695G>T (p.Cys1232Phe)
NM_001244008.2(KIF1A):c.3697A>G (p.Lys1233Glu)
NM_001244008.2(KIF1A):c.3698A>G (p.Lys1233Arg) rs1553629083
NM_001244008.2(KIF1A):c.3698A>T (p.Lys1233Met) rs1553629083
NM_001244008.2(KIF1A):c.3705C>A (p.Asp1235Glu) rs1032134160
NM_001244008.2(KIF1A):c.3708G>A (p.Leu1236=)
NM_001244008.2(KIF1A):c.3709C>T (p.Leu1237=)
NM_001244008.2(KIF1A):c.370G>A (p.Glu124Lys) rs1237269969
NM_001244008.2(KIF1A):c.3716A>G (p.Tyr1239Cys) rs999800395
NM_001244008.2(KIF1A):c.3716A>T (p.Tyr1239Phe)
NM_001244008.2(KIF1A):c.3729T>G (p.Cys1243Trp)
NM_001244008.2(KIF1A):c.372G>A (p.Glu124=) rs2055065140
NM_001244008.2(KIF1A):c.3732G>A (p.Glu1244=)
NM_001244008.2(KIF1A):c.3739G>A (p.Ala1247Thr)
NM_001244008.2(KIF1A):c.3745G>A (p.Gly1249Ser)
NM_001244008.2(KIF1A):c.3747C>A (p.Gly1249=) rs1347922421
NM_001244008.2(KIF1A):c.3747C>G (p.Gly1249=) rs1347922421
NM_001244008.2(KIF1A):c.3748G>A (p.Asp1250Asn) rs747707345
NM_001244008.2(KIF1A):c.3749+11G>A
NM_001244008.2(KIF1A):c.3749+11G>T rs1363823117
NM_001244008.2(KIF1A):c.3750-10T>G
NM_001244008.2(KIF1A):c.3750-13C>G rs745684767
NM_001244008.2(KIF1A):c.3750-13C>T
NM_001244008.2(KIF1A):c.3750-17G>A
NM_001244008.2(KIF1A):c.3750-20C>T
NM_001244008.2(KIF1A):c.3750-2A>G
NM_001244008.2(KIF1A):c.3750-9C>G
NM_001244008.2(KIF1A):c.3756C>T (p.Ile1252=) rs2125746153
NM_001244008.2(KIF1A):c.3759G>C (p.Pro1253=) rs777751073
NM_001244008.2(KIF1A):c.375C>T (p.Asp125=) rs375280241
NM_001244008.2(KIF1A):c.3765G>A (p.Val1255=)
NM_001244008.2(KIF1A):c.3768G>A (p.Val1256=)
NM_001244008.2(KIF1A):c.3771C>A (p.Asp1257Glu)
NM_001244008.2(KIF1A):c.3779G>A (p.Gly1260Glu) rs2125745964
NM_001244008.2(KIF1A):c.3782G>A (p.Gly1261Asp)
NM_001244008.2(KIF1A):c.3783C>T (p.Gly1261=) rs2047813399
NM_001244008.2(KIF1A):c.3784A>G (p.Met1262Val)
NM_001244008.2(KIF1A):c.3786G>A (p.Met1262Ile) rs2125745911
NM_001244008.2(KIF1A):c.3793A>C (p.Met1265Leu)
NM_001244008.2(KIF1A):c.3793A>T (p.Met1265Leu)
NM_001244008.2(KIF1A):c.3794T>C (p.Met1265Thr)
NM_001244008.2(KIF1A):c.3795G>C (p.Met1265Ile)
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys) rs1064794935
NM_001244008.2(KIF1A):c.3805C>T (p.Leu1269Phe)
NM_001244008.2(KIF1A):c.3812A>C (p.His1271Pro) rs1553628832
NM_001244008.2(KIF1A):c.3816+10C>T
NM_001244008.2(KIF1A):c.3816+10_3816+63del
NM_001244008.2(KIF1A):c.3816+15T>C
NM_001244008.2(KIF1A):c.3816+20C>G rs376501987
NM_001244008.2(KIF1A):c.3816G>A (p.Gln1272=)
NM_001244008.2(KIF1A):c.3817-10G>A rs962822799
NM_001244008.2(KIF1A):c.3817-12T>C
NM_001244008.2(KIF1A):c.3817-4G>A
NM_001244008.2(KIF1A):c.3817-5G>A
NM_001244008.2(KIF1A):c.3817-9C>T rs2125743928
NM_001244008.2(KIF1A):c.3819C>T (p.Gly1273=)
NM_001244008.2(KIF1A):c.3825G>A (p.Gln1275=) rs2125743828
NM_001244008.2(KIF1A):c.3827G>A (p.Arg1276Gln) rs2047780556
NM_001244008.2(KIF1A):c.3830G>A (p.Arg1277Gln) rs2047780090
NM_001244008.2(KIF1A):c.3838G>A (p.Val1280Met)
NM_001244008.2(KIF1A):c.3839T>G (p.Val1280Gly)
NM_001244008.2(KIF1A):c.3851A>C (p.His1284Pro)
NM_001244008.2(KIF1A):c.3853G>A (p.Glu1285Lys)
NM_001244008.2(KIF1A):c.3863G>C (p.Ser1288Thr)
NM_001244008.2(KIF1A):c.386G>A (p.Arg129Gln)
NM_001244008.2(KIF1A):c.3870C>A (p.Ile1290=) rs2125743520
NM_001244008.2(KIF1A):c.3872G>T (p.Arg1291Leu) rs201653410
NM_001244008.2(KIF1A):c.3886C>G (p.Arg1296Gly) rs201684653
NM_001244008.2(KIF1A):c.3886C>T (p.Arg1296Cys) rs201684653
NM_001244008.2(KIF1A):c.3888C>A (p.Arg1296=) rs144520412
NM_001244008.2(KIF1A):c.3889G>A (p.Glu1297Lys)
NM_001244008.2(KIF1A):c.3894G>C (p.Leu1298=)
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_001244008.2(KIF1A):c.3901+10G>C
NM_001244008.2(KIF1A):c.3901+14G>A
NM_001244008.2(KIF1A):c.3901+14G>C rs1429288747
NM_001244008.2(KIF1A):c.3901+15G>A
NM_001244008.2(KIF1A):c.3901+16G>A rs2125743058
NM_001244008.2(KIF1A):c.3901+18G>A rs1196829108
NM_001244008.2(KIF1A):c.3901+20T>A
NM_001244008.2(KIF1A):c.3901+5G>A
NM_001244008.2(KIF1A):c.3901+8C>A
NM_001244008.2(KIF1A):c.3901+9G>C rs141647310
NM_001244008.2(KIF1A):c.3901G>T (p.Gly1301Cys)
NM_001244008.2(KIF1A):c.3902-11C>T
NM_001244008.2(KIF1A):c.3902-17C>G
NM_001244008.2(KIF1A):c.3902-17C>T
NM_001244008.2(KIF1A):c.3902-19C>A
NM_001244008.2(KIF1A):c.3902-19C>T
NM_001244008.2(KIF1A):c.3902-20G>A
NM_001244008.2(KIF1A):c.3902-8T>C
NM_001244008.2(KIF1A):c.3903C>T (p.Gly1301=)
NM_001244008.2(KIF1A):c.3906C>T (p.Arg1302=)
NM_001244008.2(KIF1A):c.3913A>C (p.Asn1305His)
NM_001244008.2(KIF1A):c.3915C>T (p.Asn1305=)
NM_001244008.2(KIF1A):c.3917C>T (p.Thr1306Ile) rs1382579533
NM_001244008.2(KIF1A):c.3919C>T (p.Pro1307Ser)
NM_001244008.2(KIF1A):c.3924G>C (p.Glu1308Asp) rs2125719123
NM_001244008.2(KIF1A):c.3927C>G (p.Thr1309=)
NM_001244008.2(KIF1A):c.3929A>T (p.Asp1310Val)
NM_001244008.2(KIF1A):c.3931G>A (p.Glu1311Lys) rs778239281
NM_001244008.2(KIF1A):c.3937C>T (p.Leu1313=) rs2125718993
NM_001244008.2(KIF1A):c.3939G>A (p.Leu1313=)
NM_001244008.2(KIF1A):c.3940A>G (p.Ile1314Val)
NM_001244008.2(KIF1A):c.3942C>A (p.Ile1314=) rs201423643
NM_001244008.2(KIF1A):c.394G>A (p.Asp132Asn)
NM_001244008.2(KIF1A):c.3954C>A (p.Ile1318=)
NM_001244008.2(KIF1A):c.3954C>T (p.Ile1318=)
NM_001244008.2(KIF1A):c.3955T>C (p.Leu1319=)
NM_001244008.2(KIF1A):c.3957G>A (p.Leu1319=) rs543211826
NM_001244008.2(KIF1A):c.395A>C (p.Asp132Ala)
NM_001244008.2(KIF1A):c.3968T>C (p.Ile1323Thr)
NM_001244008.2(KIF1A):c.3969C>T (p.Ile1323=)
NM_001244008.2(KIF1A):c.3974C>T (p.Ser1325Phe)
NM_001244008.2(KIF1A):c.3977C>T (p.Ser1326Phe) rs2125718681
NM_001244008.2(KIF1A):c.3984C>T (p.Tyr1328=)
NM_001244008.2(KIF1A):c.3990C>A (p.His1330Gln)
NM_001244008.2(KIF1A):c.3992C>T (p.Pro1331Leu) rs759671623
NM_001244008.2(KIF1A):c.3994G>T (p.Ala1332Ser)
NM_001244008.2(KIF1A):c.4006C>A (p.Arg1336=) rs367883171
NM_001244008.2(KIF1A):c.4007+11G>C
NM_001244008.2(KIF1A):c.4007+11G>T
NM_001244008.2(KIF1A):c.4007+12A>T rs745416101
NM_001244008.2(KIF1A):c.4007+17del rs778729761
NM_001244008.2(KIF1A):c.4007+18T>A
NM_001244008.2(KIF1A):c.4007+20G>A
NM_001244008.2(KIF1A):c.4007+7C>G
NM_001244008.2(KIF1A):c.4007+9G>T
NM_001244008.2(KIF1A):c.4008-13T>C
NM_001244008.2(KIF1A):c.4008-14C>G
NM_001244008.2(KIF1A):c.4008-15T>C
NM_001244008.2(KIF1A):c.4008-16C>T
NM_001244008.2(KIF1A):c.4008-3C>A
NM_001244008.2(KIF1A):c.400A>G (p.Thr134Ala)
NM_001244008.2(KIF1A):c.4012T>G (p.Phe1338Val)
NM_001244008.2(KIF1A):c.4017C>T (p.Tyr1339=)
NM_001244008.2(KIF1A):c.4021T>C (p.Phe1341Leu) rs1559480429
NM_001244008.2(KIF1A):c.4022T>C (p.Phe1341Ser) rs1553626083
NM_001244008.2(KIF1A):c.4025A>G (p.Glu1342Gly) rs1465561800
NM_001244008.2(KIF1A):c.4028C>T (p.Ala1343Val) rs2046074242
NM_001244008.2(KIF1A):c.402C>T (p.Thr134=) rs2126086717
NM_001244008.2(KIF1A):c.4045A>G (p.Met1349Val) rs777103421
NM_001244008.2(KIF1A):c.4055C>G (p.Ser1352Cys) rs1559480382
NM_001244008.2(KIF1A):c.4057C>T (p.Leu1353Phe) rs865912479
NM_001244008.2(KIF1A):c.4069C>T (p.Arg1357Trp) rs886042271
NM_001244008.2(KIF1A):c.406_408dup (p.Asp136_Asn137insAsp)
NM_001244008.2(KIF1A):c.4070G>A (p.Arg1357Gln)
NM_001244008.2(KIF1A):c.4076C>A (p.Thr1359Asn)
NM_001244008.2(KIF1A):c.4085G>C (p.Arg1362Pro) rs753620726
NM_001244008.2(KIF1A):c.4085G>T (p.Arg1362Leu)
NM_001244008.2(KIF1A):c.4086A>G (p.Arg1362=)
NM_001244008.2(KIF1A):c.4089G>T (p.Glu1363Asp) rs2046068443
NM_001244008.2(KIF1A):c.408C>T (p.Asp136=)
NM_001244008.2(KIF1A):c.4092A>T (p.Lys1364Asn)
NM_001244008.2(KIF1A):c.4097A>T (p.Tyr1366Phe) rs2046067517
NM_001244008.2(KIF1A):c.409A>T (p.Asn137Tyr)
NM_001244008.2(KIF1A):c.40C>G (p.Pro14Ala)
NM_001244008.2(KIF1A):c.4110C>A (p.Ser1370=) rs374134509
NM_001244008.2(KIF1A):c.4110C>G (p.Ser1370=)
NM_001244008.2(KIF1A):c.4111G>A (p.Ala1371Thr) rs751798253
NM_001244008.2(KIF1A):c.4111G>T (p.Ala1371Ser) rs751798253
NM_001244008.2(KIF1A):c.4116T>C (p.Tyr1372=) rs2125632706
NM_001244008.2(KIF1A):c.4120G>C (p.Glu1374Gln) rs951775920
NM_001244008.2(KIF1A):c.4122+10C>T
NM_001244008.2(KIF1A):c.4122+12A>G
NM_001244008.2(KIF1A):c.4122+16C>G
NM_001244008.2(KIF1A):c.4122+7C>G
NM_001244008.2(KIF1A):c.4122+9C>T
NM_001244008.2(KIF1A):c.4123-11G>C rs369835159
NM_001244008.2(KIF1A):c.4123-18T>G rs2125622525
NM_001244008.2(KIF1A):c.4123-5C>T
NM_001244008.2(KIF1A):c.4123-9C>G
NM_001244008.2(KIF1A):c.4123A>T (p.Met1375Leu) rs2045896288
NM_001244008.2(KIF1A):c.4125G>T (p.Met1375Ile)
NM_001244008.2(KIF1A):c.4126G>A (p.Glu1376Lys) rs1007488193
NM_001244008.2(KIF1A):c.4127A>G (p.Glu1376Gly)
NM_001244008.2(KIF1A):c.4130A>G (p.Asn1377Ser)
NM_001244008.2(KIF1A):c.4131C>G (p.Asn1377Lys) rs562072254
NM_001244008.2(KIF1A):c.4132T>G (p.Cys1378Gly)
NM_001244008.2(KIF1A):c.4135A>C (p.Thr1379Pro)
NM_001244008.2(KIF1A):c.4136C>T (p.Thr1379Ile)
NM_001244008.2(KIF1A):c.4139A>C (p.Gln1380Pro)
NM_001244008.2(KIF1A):c.4141C>A (p.Pro1381Thr)
NM_001244008.2(KIF1A):c.4145C>A (p.Ala1382Asp)
NM_001244008.2(KIF1A):c.4145C>T (p.Ala1382Val)
NM_001244008.2(KIF1A):c.414G>A (p.Met138Ile)
NM_001244008.2(KIF1A):c.4152C>T (p.Val1384=) rs368084839
NM_001244008.2(KIF1A):c.4160A>G (p.Asp1387Gly) rs1575525452
NM_001244008.2(KIF1A):c.4171G>A (p.Val1391Ile) rs373900978
NM_001244008.2(KIF1A):c.4173C>T (p.Val1391=)
NM_001244008.2(KIF1A):c.417C>T (p.Ser139=) rs763629643
NM_001244008.2(KIF1A):c.4180T>C (p.Ser1394Pro)
NM_001244008.2(KIF1A):c.4183C>T (p.Arg1395Cys)
NM_001244008.2(KIF1A):c.4184G>A (p.Arg1395His)
NM_001244008.2(KIF1A):c.4190C>T (p.Ala1397Val)
NM_001244008.2(KIF1A):c.4191C>G (p.Ala1397=)
NM_001244008.2(KIF1A):c.4202C>T (p.Ala1401Val) rs1366608570
NM_001244008.2(KIF1A):c.4203C>T (p.Ala1401=)
NM_001244008.2(KIF1A):c.4207C>T (p.Arg1403Cys)
NM_001244008.2(KIF1A):c.4208G>A (p.Arg1403His) rs537708830
NM_001244008.2(KIF1A):c.4208G>T (p.Arg1403Leu)
NM_001244008.2(KIF1A):c.4209C>T (p.Arg1403=)
NM_001244008.2(KIF1A):c.4216C>T (p.Arg1406Cys)
NM_001244008.2(KIF1A):c.4220A>C (p.Asn1407Thr)
NM_001244008.2(KIF1A):c.4221C>T (p.Asn1407=) rs1264138765
NM_001244008.2(KIF1A):c.4222C>G (p.Leu1408Val)
NM_001244008.2(KIF1A):c.4224C>T (p.Leu1408=)
NM_001244008.2(KIF1A):c.4229G>T (p.Gly1410Val) rs754172009
NM_001244008.2(KIF1A):c.4233T>C (p.Ser1411=) rs1575525327
NM_001244008.2(KIF1A):c.4236G>T (p.Gly1412=) rs1398284516
NM_001244008.2(KIF1A):c.4243C>T (p.Arg1415Trp) rs1559479236
NM_001244008.2(KIF1A):c.4248C>T (p.Ala1416=)
NM_001244008.2(KIF1A):c.4255A>T (p.Ser1419Cys)
NM_001244008.2(KIF1A):c.4256+14G>A rs1422904058
NM_001244008.2(KIF1A):c.4256+15G>T
NM_001244008.2(KIF1A):c.4256+18A>T
NM_001244008.2(KIF1A):c.4257-10C>T
NM_001244008.2(KIF1A):c.4257-11A>G
NM_001244008.2(KIF1A):c.4257-14_4257-12del rs778412941
NM_001244008.2(KIF1A):c.4257-19C>T
NM_001244008.2(KIF1A):c.4257-6C>T rs1440735433
NM_001244008.2(KIF1A):c.4258A>G (p.Asn1420Asp) rs752208944
NM_001244008.2(KIF1A):c.4261C>A (p.Arg1421Ser)
NM_001244008.2(KIF1A):c.4261C>T (p.Arg1421Cys)
NM_001244008.2(KIF1A):c.4262G>A (p.Arg1421His)
NM_001244008.2(KIF1A):c.4273G>A (p.Val1425Met) rs2125608798
NM_001244008.2(KIF1A):c.4280A>C (p.Glu1427Ala) rs2045704169
NM_001244008.2(KIF1A):c.4282C>A (p.Leu1428Ile)
NM_001244008.2(KIF1A):c.429+10C>T
NM_001244008.2(KIF1A):c.429+15C>T
NM_001244008.2(KIF1A):c.429+16T>A
NM_001244008.2(KIF1A):c.429+19C>T
NM_001244008.2(KIF1A):c.429+7C>T
NM_001244008.2(KIF1A):c.4294C>T (p.His1432Tyr)
NM_001244008.2(KIF1A):c.4295A>G (p.His1432Arg)
NM_001244008.2(KIF1A):c.4296C>A (p.His1432Gln)
NM_001244008.2(KIF1A):c.4296C>T (p.His1432=)
NM_001244008.2(KIF1A):c.430-18C>T
NM_001244008.2(KIF1A):c.430-20G>T
NM_001244008.2(KIF1A):c.430-2A>G
NM_001244008.2(KIF1A):c.430-3C>A
NM_001244008.2(KIF1A):c.430-4G>T
NM_001244008.2(KIF1A):c.430-7C>A
NM_001244008.2(KIF1A):c.430-8C>T rs1180572370
NM_001244008.2(KIF1A):c.430-9G>T
NM_001244008.2(KIF1A):c.4305C>T (p.Asp1435=) rs962460784
NM_001244008.2(KIF1A):c.4311C>A (p.Gly1437=) rs2125608548
NM_001244008.2(KIF1A):c.4317A>C (p.Pro1439=) rs2045700790
NM_001244008.2(KIF1A):c.4317A>G (p.Pro1439=)
NM_001244008.2(KIF1A):c.4318+13C>T
NM_001244008.2(KIF1A):c.4318+15T>C
NM_001244008.2(KIF1A):c.4318+3A>G
NM_001244008.2(KIF1A):c.4319-11G>C
NM_001244008.2(KIF1A):c.4319-16C>T
NM_001244008.2(KIF1A):c.4319-1G>A
NM_001244008.2(KIF1A):c.4319-2A>G rs1559477798
NM_001244008.2(KIF1A):c.4319-5T>C
NM_001244008.2(KIF1A):c.4320G>T (p.Gly1440=)
NM_001244008.2(KIF1A):c.4324C>T (p.Gln1442Ter)
NM_001244008.2(KIF1A):c.4326G>A (p.Gln1442=)
NM_001244008.2(KIF1A):c.4326G>C (p.Gln1442His)
NM_001244008.2(KIF1A):c.4327C>T (p.Arg1443Cys)
NM_001244008.2(KIF1A):c.4328G>A (p.Arg1443His)
NM_001244008.2(KIF1A):c.4329C>A (p.Arg1443=)
NM_001244008.2(KIF1A):c.4330C>T (p.Arg1444Trp)
NM_001244008.2(KIF1A):c.4332G>T (p.Arg1444=) rs776552179
NM_001244008.2(KIF1A):c.4337G>A (p.Arg1446Gln)
NM_001244008.2(KIF1A):c.4337G>T (p.Arg1446Leu) rs1337924125
NM_001244008.2(KIF1A):c.4339C>G (p.Arg1447Gly)
NM_001244008.2(KIF1A):c.4339C>T (p.Arg1447Ter) rs1057519240
NM_001244008.2(KIF1A):c.4340G>A (p.Arg1447Gln) rs1294960500
NM_001244008.2(KIF1A):c.4349A>T (p.Asp1450Val)
NM_001244008.2(KIF1A):c.4353A>G (p.Thr1451=)
NM_001244008.2(KIF1A):c.4358T>C (p.Val1453Ala) rs1575521876
NM_001244008.2(KIF1A):c.4360G>A (p.Ala1454Thr)
NM_001244008.2(KIF1A):c.4361C>T (p.Ala1454Val) rs1323387485
NM_001244008.2(KIF1A):c.4368C>T (p.Val1456=)
NM_001244008.2(KIF1A):c.4369C>T (p.Arg1457Trp) rs2125604949
NM_001244008.2(KIF1A):c.4375G>A (p.Glu1459Lys) rs2045644019
NM_001244008.2(KIF1A):c.4384C>T (p.Leu1462=) rs903968622
NM_001244008.2(KIF1A):c.4387G>A (p.Ala1463Thr)
NM_001244008.2(KIF1A):c.4392C>T (p.Gly1464=)
NM_001244008.2(KIF1A):c.439A>G (p.Met147Val) rs2054764091
NM_001244008.2(KIF1A):c.4400C>T (p.Pro1467Leu) rs2125604812
NM_001244008.2(KIF1A):c.4403G>A (p.Arg1468Gln)
NM_001244008.2(KIF1A):c.4410C>T (p.Asp1470=)
NM_001244008.2(KIF1A):c.4431G>T (p.Gln1477His) rs2045640006
NM_001244008.2(KIF1A):c.4435G>A (p.Glu1479Lys) rs2045639682
NM_001244008.2(KIF1A):c.4447C>T (p.Leu1483=)
NM_001244008.2(KIF1A):c.444G>A (p.Glu148=) rs2054763570
NM_001244008.2(KIF1A):c.4452C>T (p.Ser1484=)
NM_001244008.2(KIF1A):c.4455C>T (p.Leu1485=)
NM_001244008.2(KIF1A):c.4460A>C (p.Gln1487Pro) rs2125604530
NM_001244008.2(KIF1A):c.4464+17G>C
NM_001244008.2(KIF1A):c.4464+5G>A
NM_001244008.2(KIF1A):c.4464G>A (p.Glu1488=)
NM_001244008.2(KIF1A):c.4465-14T>C rs1160874188
NM_001244008.2(KIF1A):c.4465-18C>T
NM_001244008.2(KIF1A):c.4465-4G>A rs2045545035
NM_001244008.2(KIF1A):c.4465-8G>A rs1232485129
NM_001244008.2(KIF1A):c.4465G>C (p.Val1489Leu)
NM_001244008.2(KIF1A):c.4465G>T (p.Val1489Leu)
NM_001244008.2(KIF1A):c.4485C>T (p.Tyr1495=)
NM_001244008.2(KIF1A):c.4487T>G (p.Leu1496Arg)
NM_001244008.2(KIF1A):c.4488G>A (p.Leu1496=) rs371980548
NM_001244008.2(KIF1A):c.4495C>A (p.Arg1499=)
NM_001244008.2(KIF1A):c.4495C>T (p.Arg1499Trp)
NM_001244008.2(KIF1A):c.4509G>A (p.Glu1503=) rs1229202517
NM_001244008.2(KIF1A):c.4519C>A (p.Arg1507=) rs755721997
NM_001244008.2(KIF1A):c.4521G>C (p.Arg1507=) rs1181895449
NM_001244008.2(KIF1A):c.4524T>G (p.Pro1508=) rs2125598362
NM_001244008.2(KIF1A):c.4527C>A (p.Val1509=) rs2125598348
NM_001244008.2(KIF1A):c.4529C>G (p.Pro1510Arg)
NM_001244008.2(KIF1A):c.4529del (p.Pro1510fs) rs2125598333
NM_001244008.2(KIF1A):c.452G>A (p.Cys151Tyr) rs1553638655
NM_001244008.2(KIF1A):c.4535C>T (p.Ala1512Val)
NM_001244008.2(KIF1A):c.4536A>C (p.Ala1512=) rs956495221
NM_001244008.2(KIF1A):c.4538T>C (p.Leu1513Pro) rs2125598231
NM_001244008.2(KIF1A):c.4539G>C (p.Leu1513=)
NM_001244008.2(KIF1A):c.4545G>A (p.Pro1515=) rs540399320
NM_001244008.2(KIF1A):c.4545G>T (p.Pro1515=) rs540399320
NM_001244008.2(KIF1A):c.4554C>G (p.Ser1518Arg) rs775395101
NM_001244008.2(KIF1A):c.4557G>C (p.Glu1519Asp)
NM_001244008.2(KIF1A):c.4558G>C (p.Asp1520His) rs2125598098
NM_001244008.2(KIF1A):c.4560C>T (p.Asp1520=)
NM_001244008.2(KIF1A):c.4566G>A (p.Glu1522=) rs2125598043
NM_001244008.2(KIF1A):c.4575C>T (p.Gly1525=) rs1553625168
NM_001244008.2(KIF1A):c.4578C>T (p.Ser1526=)
NM_001244008.2(KIF1A):c.457C>T (p.Arg153Cys)
NM_001244008.2(KIF1A):c.4583G>A (p.Ser1528Asn) rs2125597894
NM_001244008.2(KIF1A):c.4584C>A (p.Ser1528Arg)
NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr) rs572923181
NM_001244008.2(KIF1A):c.4585G>T (p.Ala1529Ser) rs572923181
NM_001244008.2(KIF1A):c.4586C>T (p.Ala1529Val)
NM_001244008.2(KIF1A):c.458G>A (p.Arg153His)
NM_001244008.2(KIF1A):c.4591T>C (p.Ser1531Pro)
NM_001244008.2(KIF1A):c.4595C>A (p.Pro1532Gln)
NM_001244008.2(KIF1A):c.4596G>T (p.Pro1532=)
NM_001244008.2(KIF1A):c.4598T>A (p.Leu1533His)
NM_001244008.2(KIF1A):c.4602G>A (p.Ser1534=)
NM_001244008.2(KIF1A):c.4602G>C (p.Ser1534=)
NM_001244008.2(KIF1A):c.4602G>T (p.Ser1534=) rs757090320
NM_001244008.2(KIF1A):c.4605T>C (p.Ala1535=)
NM_001244008.2(KIF1A):c.4606G>A (p.Glu1536Lys)
NM_001244008.2(KIF1A):c.4607A>C (p.Glu1536Ala)
NM_001244008.2(KIF1A):c.4608G>A (p.Glu1536=)
NM_001244008.2(KIF1A):c.4617A>G (p.Pro1539=) rs984178501
NM_001244008.2(KIF1A):c.4621C>T (p.Pro1541Ser) rs1457334989
NM_001244008.2(KIF1A):c.4622C>T (p.Pro1541Leu)
NM_001244008.2(KIF1A):c.4624del (p.Leu1542fs) rs2125597503
NM_001244008.2(KIF1A):c.4625T>C (p.Leu1542Pro) rs1559476658
NM_001244008.2(KIF1A):c.4631C>T (p.Ala1544Val)
NM_001244008.2(KIF1A):c.4634C>G (p.Pro1545Arg)
NM_001244008.2(KIF1A):c.4636_4638del (p.Asn1546del)
NM_001244008.2(KIF1A):c.4639G>A (p.Glu1547Lys) rs537893174
NM_001244008.2(KIF1A):c.4639G>C (p.Glu1547Gln) rs537893174
NM_001244008.2(KIF1A):c.463C>T (p.Arg155Cys)
NM_001244008.2(KIF1A):c.4645_4660del (p.Gln1549fs)
NM_001244008.2(KIF1A):c.4647G>A (p.Gln1549=)
NM_001244008.2(KIF1A):c.4648C>A (p.Arg1550=)
NM_001244008.2(KIF1A):c.4649G>T (p.Arg1550Leu)
NM_001244008.2(KIF1A):c.464G>A (p.Arg155His)
NM_001244008.2(KIF1A):c.4662C>T (p.Val1554=)
NM_001244008.2(KIF1A):c.4665+11C>T
NM_001244008.2(KIF1A):c.4665+14G>A
NM_001244008.2(KIF1A):c.4665+14G>C
NM_001244008.2(KIF1A):c.4665+18G>T rs2125597023
NM_001244008.2(KIF1A):c.4665+3G>A
NM_001244008.2(KIF1A):c.4666-12C>G rs546579636
NM_001244008.2(KIF1A):c.4666-17G>T
NM_001244008.2(KIF1A):c.4666-6C>A rs2045435167
NM_001244008.2(KIF1A):c.4672C>T (p.Arg1558Cys)
NM_001244008.2(KIF1A):c.467A>T (p.Asp156Val) rs2126071766
NM_001244008.2(KIF1A):c.4680C>A (p.Leu1560=) rs1257056232
NM_001244008.2(KIF1A):c.4683G>C (p.Thr1561=) rs370908366
NM_001244008.2(KIF1A):c.4694A>G (p.Asn1565Ser) rs755380517
NM_001244008.2(KIF1A):c.4697G>A (p.Arg1566Lys)
NM_001244008.2(KIF1A):c.469C>G (p.Leu157Val)
NM_001244008.2(KIF1A):c.4700_4701del (p.Glu1567fs)
NM_001244008.2(KIF1A):c.4712G>A (p.Ser1571Asn)
NM_001244008.2(KIF1A):c.4713C>A (p.Ser1571Arg) rs2045430456
NM_001244008.2(KIF1A):c.4713C>T (p.Ser1571=) rs2045430456
NM_001244008.2(KIF1A):c.4714C>T (p.His1572Tyr)
NM_001244008.2(KIF1A):c.4716C>G (p.His1572Gln) rs375640417
NM_001244008.2(KIF1A):c.4726A>C (p.Ser1576Arg) rs2045429070
NM_001244008.2(KIF1A):c.4727G>A (p.Ser1576Asn) rs754928504
NM_001244008.2(KIF1A):c.4729G>T (p.Ala1577Ser)
NM_001244008.2(KIF1A):c.4739G>A (p.Ser1580Asn) rs2045427297
NM_001244008.2(KIF1A):c.4742A>G (p.Lys1581Arg)
NM_001244008.2(KIF1A):c.4743+12G>A
NM_001244008.2(KIF1A):c.4743+16C>A
NM_001244008.2(KIF1A):c.4743+18G>A rs1292108788
NM_001244008.2(KIF1A):c.4743+3G>C
NM_001244008.2(KIF1A):c.4743+4G>C rs2125592142
NM_001244008.2(KIF1A):c.4743G>A (p.Lys1581=) rs2045426895
NM_001244008.2(KIF1A):c.4744-14C>T
NM_001244008.2(KIF1A):c.4744-15G>A rs775861140
NM_001244008.2(KIF1A):c.4744-15G>T
NM_001244008.2(KIF1A):c.4744-16G>A
NM_001244008.2(KIF1A):c.4744-5C>G
NM_001244008.2(KIF1A):c.4744-6C>T
NM_001244008.2(KIF1A):c.4744-7T>C rs2125586107
NM_001244008.2(KIF1A):c.4744-8C>T
NM_001244008.2(KIF1A):c.4744-9C>T rs760129690
NM_001244008.2(KIF1A):c.474G>A (p.Leu158=)
NM_001244008.2(KIF1A):c.4753A>T (p.Met1585Leu) rs1203273192
NM_001244008.2(KIF1A):c.4755G>A (p.Met1585Ile)
NM_001244008.2(KIF1A):c.4759G>A (p.Val1587Ile) rs768639671
NM_001244008.2(KIF1A):c.4761C>T (p.Val1587=)
NM_001244008.2(KIF1A):c.4763C>A (p.Thr1588Asn)
NM_001244008.2(KIF1A):c.4764C>G (p.Thr1588=)
NM_001244008.2(KIF1A):c.4765C>G (p.Leu1589Val)
NM_001244008.2(KIF1A):c.4768C>T (p.Leu1590Phe)
NM_001244008.2(KIF1A):c.4769T>C (p.Leu1590Pro) rs2125585935
NM_001244008.2(KIF1A):c.4772G>A (p.Arg1591Gln)
NM_001244008.2(KIF1A):c.4776C>A (p.Asp1592Glu)
NM_001244008.2(KIF1A):c.4776C>T (p.Asp1592=)
NM_001244008.2(KIF1A):c.4782G>T (p.Ser1594=)
NM_001244008.2(KIF1A):c.4783A>G (p.Met1595Val)
NM_001244008.2(KIF1A):c.4788C>T (p.Ser1596=)
NM_001244008.2(KIF1A):c.4789C>T (p.Pro1597Ser) rs2045297930
NM_001244008.2(KIF1A):c.478C>T (p.Pro160Ser) rs2054759897
NM_001244008.2(KIF1A):c.4794A>T (p.Leu1598=) rs753060457
NM_001244008.2(KIF1A):c.4795G>T (p.Gly1599Trp)
NM_001244008.2(KIF1A):c.4796G>C (p.Gly1599Ala)
NM_001244008.2(KIF1A):c.4797G>A (p.Gly1599=)
NM_001244008.2(KIF1A):c.4801G>A (p.Ala1601Thr) rs767196477
NM_001244008.2(KIF1A):c.4802C>A (p.Ala1601Asp)
NM_001244008.2(KIF1A):c.4802C>G (p.Ala1601Gly)
NM_001244008.2(KIF1A):c.4804A>C (p.Thr1602Pro) rs2125585579
NM_001244008.2(KIF1A):c.4805C>G (p.Thr1602Ser) rs1232607807
NM_001244008.2(KIF1A):c.4807C>T (p.Leu1603Phe)
NM_001244008.2(KIF1A):c.4809C>A (p.Leu1603=)
NM_001244008.2(KIF1A):c.4811C>A (p.Thr1604Asn)
NM_001244008.2(KIF1A):c.4811C>T (p.Thr1604Ile) rs982977592
NM_001244008.2(KIF1A):c.4812C>T (p.Thr1604=) rs76974316
NM_001244008.2(KIF1A):c.4813C>G (p.Pro1605Ala) rs916993059
NM_001244008.2(KIF1A):c.4815C>T (p.Pro1605=)
NM_001244008.2(KIF1A):c.4816TCC[3] (p.Ser1607_Thr1608insSer)
NM_001244008.2(KIF1A):c.4826G>C (p.Cys1609Ser)
NM_001244008.2(KIF1A):c.482A>C (p.Lys161Thr)
NM_001244008.2(KIF1A):c.4836G>A (p.Leu1612=)
NM_001244008.2(KIF1A):c.4836G>T (p.Leu1612=)
NM_001244008.2(KIF1A):c.4839T>A (p.Val1613=)
NM_001244008.2(KIF1A):c.4846C>A (p.Arg1616=)
NM_001244008.2(KIF1A):c.4848G>A (p.Arg1616=)
NM_001244008.2(KIF1A):c.484A>G (p.Asn162Asp) rs2126071649
NM_001244008.2(KIF1A):c.4852G>A (p.Gly1618Ser) rs777997857
NM_001244008.2(KIF1A):c.4852G>T (p.Gly1618Cys) rs777997857
NM_001244008.2(KIF1A):c.4856C>G (p.Ala1619Gly) rs2045286506
NM_001244008.2(KIF1A):c.4859C>G (p.Thr1620Ser)
NM_001244008.2(KIF1A):c.4863C>T (p.Asp1621=) rs2125585125
NM_001244008.2(KIF1A):c.4866G>C (p.Leu1622=)
NM_001244008.2(KIF1A):c.4868+14A>G
NM_001244008.2(KIF1A):c.4868+1G>C rs1553624714
NM_001244008.2(KIF1A):c.4869-14C>G
NM_001244008.2(KIF1A):c.4869-14C>T
NM_001244008.2(KIF1A):c.4869-15C>T
NM_001244008.2(KIF1A):c.4869-18C>T rs2045089282
NM_001244008.2(KIF1A):c.4869-7T>C
NM_001244008.2(KIF1A):c.4869-9G>A
NM_001244008.2(KIF1A):c.4869G>C (p.Arg1623Ser)
NM_001244008.2(KIF1A):c.4870A>T (p.Thr1624Ser)
NM_001244008.2(KIF1A):c.4871C>T (p.Thr1624Ile)
NM_001244008.2(KIF1A):c.4874C>G (p.Pro1625Arg)
NM_001244008.2(KIF1A):c.4875G>T (p.Pro1625=)
NM_001244008.2(KIF1A):c.4876C>A (p.Gln1626Lys)
NM_001244008.2(KIF1A):c.4877A>C (p.Gln1626Pro) rs750942838
NM_001244008.2(KIF1A):c.4886C>G (p.Ser1629Cys) rs2125575540
NM_001244008.2(KIF1A):c.4888C>A (p.Arg1630=)
NM_001244008.2(KIF1A):c.4888C>T (p.Arg1630Trp) rs202072706
NM_001244008.2(KIF1A):c.4889G>C (p.Arg1630Pro)
NM_001244008.2(KIF1A):c.4893A>G (p.Pro1631=) rs2125575463
NM_001244008.2(KIF1A):c.4895C>G (p.Ala1632Gly)
NM_001244008.2(KIF1A):c.4897A>G (p.Ser1633Gly)
NM_001244008.2(KIF1A):c.4898G>A (p.Ser1633Asn) rs2125575413
NM_001244008.2(KIF1A):c.4898G>C (p.Ser1633Thr)
NM_001244008.2(KIF1A):c.489G>A (p.Lys163=)
NM_001244008.2(KIF1A):c.4905G>C (p.Glu1635Asp) rs2125575383
NM_001244008.2(KIF1A):c.4915C>T (p.Leu1639=)
NM_001244008.2(KIF1A):c.4921G>A (p.Glu1641Lys)
NM_001244008.2(KIF1A):c.4923G>A (p.Glu1641=)
NM_001244008.2(KIF1A):c.4924G>A (p.Ala1642Thr)
NM_001244008.2(KIF1A):c.4926C>A (p.Ala1642=) rs376581099
NM_001244008.2(KIF1A):c.4926C>G (p.Ala1642=) rs376581099
NM_001244008.2(KIF1A):c.4926C>T (p.Ala1642=) rs376581099
NM_001244008.2(KIF1A):c.4929C>A (p.Asp1643Glu) rs2125575164
NM_001244008.2(KIF1A):c.4930T>C (p.Ser1644Pro) rs2125575152
NM_001244008.2(KIF1A):c.4932C>T (p.Ser1644=)
NM_001244008.2(KIF1A):c.4934A>G (p.Lys1645Arg)
NM_001244008.2(KIF1A):c.4935G>C (p.Lys1645Asn)
NM_001244008.2(KIF1A):c.4941C>T (p.Leu1647=) rs1174709612
NM_001244008.2(KIF1A):c.4942C>T (p.Pro1648Ser)
NM_001244008.2(KIF1A):c.4951G>A (p.Ala1651Thr) rs112808596
NM_001244008.2(KIF1A):c.4954C>G (p.Arg1652Gly)
NM_001244008.2(KIF1A):c.4955G>T (p.Arg1652Leu) rs376658420
NM_001244008.2(KIF1A):c.4957G>A (p.Ala1653Thr) rs2045073432
NM_001244008.2(KIF1A):c.4967C>G (p.Thr1656Arg)
NM_001244008.2(KIF1A):c.4975G>C (p.Glu1659Gln)
NM_001244008.2(KIF1A):c.4977G>A (p.Glu1659=)
NM_001244008.2(KIF1A):c.4977G>C (p.Glu1659Asp)
NM_001244008.2(KIF1A):c.4981C>T (p.Gln1661Ter) rs1575514086
NM_001244008.2(KIF1A):c.4993G>A (p.Val1665Ile)
NM_001244008.2(KIF1A):c.4995C>G (p.Val1665=) rs2045069336
NM_001244008.2(KIF1A):c.5000A>G (p.Asp1667Gly) rs1454545662
NM_001244008.2(KIF1A):c.5005C>T (p.Gln1669Ter)
NM_001244008.2(KIF1A):c.5006A>G (p.Gln1669Arg)
NM_001244008.2(KIF1A):c.5007G>A (p.Gln1669=) rs1326344733
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His) rs2054757914
NM_001244008.2(KIF1A):c.5010G>A (p.Glu1670=)
NM_001244008.2(KIF1A):c.5014C>T (p.Arg1672Ter)
NM_001244008.2(KIF1A):c.5018T>C (p.Val1673Ala)
NM_001244008.2(KIF1A):c.501C>T (p.Arg167=)
NM_001244008.2(KIF1A):c.5021+17T>A
NM_001244008.2(KIF1A):c.5021+19G>A
NM_001244008.2(KIF1A):c.5021+2TG[2]
NM_001244008.2(KIF1A):c.5021+3G>A
NM_001244008.2(KIF1A):c.5021+8G>A
NM_001244008.2(KIF1A):c.5021+9G>A
NM_001244008.2(KIF1A):c.5022-12C>G
NM_001244008.2(KIF1A):c.5022-16C>T rs2125568399
NM_001244008.2(KIF1A):c.5022-16CT[5]
NM_001244008.2(KIF1A):c.5022-3C>A
NM_001244008.2(KIF1A):c.5022-7C>T
NM_001244008.2(KIF1A):c.5022-8G>C
NM_001244008.2(KIF1A):c.5028C>T (p.Ile1676=) rs369233025
NM_001244008.2(KIF1A):c.5038A>G (p.Lys1680Glu)
NM_001244008.2(KIF1A):c.5044T>C (p.Tyr1682His)
NM_001244008.2(KIF1A):c.5047C>G (p.Leu1683Val)
NM_001244008.2(KIF1A):c.5052C>T (p.His1684=) rs2044948522
NM_001244008.2(KIF1A):c.5053T>C (p.Phe1685Leu)
NM_001244008.2(KIF1A):c.5058G>A (p.Leu1686=) rs2044947303
NM_001244008.2(KIF1A):c.5059G>A (p.Glu1687Lys)
NM_001244008.2(KIF1A):c.5059G>C (p.Glu1687Gln)
NM_001244008.2(KIF1A):c.5063C>G (p.Pro1688Arg)
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882
NM_001244008.2(KIF1A):c.5064G>T (p.Pro1688=) rs527977882
NM_001244008.2(KIF1A):c.5066A>G (p.His1689Arg)
NM_001244008.2(KIF1A):c.5074G>A (p.Gly1692Ser)
NM_001244008.2(KIF1A):c.5081C>T (p.Ala1694Val)
NM_001244008.2(KIF1A):c.5086C>A (p.Arg1696Ser) rs772521110
NM_001244008.2(KIF1A):c.5086C>T (p.Arg1696Cys) rs772521110
NM_001244008.2(KIF1A):c.5091C>A (p.Phe1697Leu)
NM_001244008.2(KIF1A):c.5101C>T (p.Arg1701Trp)
NM_001244008.2(KIF1A):c.5103G>A (p.Arg1701=)
NM_001244008.2(KIF1A):c.5104C>T (p.Arg1702Cys) rs1434444226
NM_001244008.2(KIF1A):c.5107C>A (p.Pro1703Thr)
NM_001244008.2(KIF1A):c.5111A>G (p.Tyr1704Cys)
NM_001244008.2(KIF1A):c.5117A>T (p.Tyr1706Phe) rs1331048988
NM_001244008.2(KIF1A):c.5120T>C (p.Met1707Thr) rs1575512547
NM_001244008.2(KIF1A):c.5125A>C (p.Asn1709His)
NM_001244008.2(KIF1A):c.5129G>C (p.Ser1710Thr)
NM_001244008.2(KIF1A):c.5130C>G (p.Ser1710Arg)
NM_001244008.2(KIF1A):c.5133C>G (p.Asp1711Glu)
NM_001244008.2(KIF1A):c.5135A>G (p.Lys1712Arg)
NM_001244008.2(KIF1A):c.5148G>A (p.Glu1716=)
NM_001244008.2(KIF1A):c.5149C>T (p.Arg1717Trp)
NM_001244008.2(KIF1A):c.5154C>T (p.Phe1718=) rs1042543542
NM_001244008.2(KIF1A):c.5163C>T (p.Asn1721=)
NM_001244008.2(KIF1A):c.516A>G (p.Pro172=) rs758920773
NM_001244008.2(KIF1A):c.5173G>T (p.Ala1725Ser)
NM_001244008.2(KIF1A):c.5187C>T (p.Tyr1729=)
NM_001244008.2(KIF1A):c.5195A>C (p.Asp1732Ala)
NM_001244008.2(KIF1A):c.5195A>G (p.Asp1732Gly) rs2044928015
NM_001244008.2(KIF1A):c.5197C>A (p.Gln1733Lys)
NM_001244008.2(KIF1A):c.5198A>G (p.Gln1733Arg)
NM_001244008.2(KIF1A):c.519G>A (p.Leu173=)
NM_001244008.2(KIF1A):c.519G>C (p.Leu173=)
NM_001244008.2(KIF1A):c.51C>A (p.Ser17=)
NM_001244008.2(KIF1A):c.5205T>G (p.Ala1735=) rs1553624254
NM_001244008.2(KIF1A):c.5212A>C (p.Lys1738Gln) rs2125566852
NM_001244008.2(KIF1A):c.5214+11G>A
NM_001244008.2(KIF1A):c.5214+12C>T rs915387977
NM_001244008.2(KIF1A):c.5214+14C>A
NM_001244008.2(KIF1A):c.5214+15G>A rs562481679
NM_001244008.2(KIF1A):c.5214+15G>T
NM_001244008.2(KIF1A):c.5214+16G>A
NM_001244008.2(KIF1A):c.5214+16G>T rs1280442556
NM_001244008.2(KIF1A):c.5214+3G>A rs1394328434
NM_001244008.2(KIF1A):c.5214+4C>A rs1173881899
NM_001244008.2(KIF1A):c.5214+4C>T rs1173881899
NM_001244008.2(KIF1A):c.5214+5G>A rs1420863157
NM_001244008.2(KIF1A):c.5215-10C>T rs2125559875
NM_001244008.2(KIF1A):c.5215-12C>T rs2125559911
NM_001244008.2(KIF1A):c.5215-13C>T
NM_001244008.2(KIF1A):c.5215-18A>G
NM_001244008.2(KIF1A):c.5215-8C>T rs1487108535
NM_001244008.2(KIF1A):c.5215A>G (p.Thr1739Ala)
NM_001244008.2(KIF1A):c.5220C>G (p.Pro1740=)
NM_001244008.2(KIF1A):c.5222A>G (p.Asn1741Ser)
NM_001244008.2(KIF1A):c.5227T>A (p.Phe1743Ile)
NM_001244008.2(KIF1A):c.5231C>T (p.Ala1744Val) rs1234122019
NM_001244008.2(KIF1A):c.5240C>T (p.Thr1747Met)
NM_001244008.2(KIF1A):c.5249G>A (p.Arg1750His)
NM_001244008.2(KIF1A):c.524G>T (p.Gly175Val) rs1559528970
NM_001244008.2(KIF1A):c.5251G>A (p.Gly1751Ser) rs2044781488
NM_001244008.2(KIF1A):c.5253C>G (p.Gly1751=) rs1335411801
NM_001244008.2(KIF1A):c.5253C>T (p.Gly1751=) rs1335411801
NM_001244008.2(KIF1A):c.5254A>G (p.Ile1752Val)
NM_001244008.2(KIF1A):c.5254A>T (p.Ile1752Phe)
NM_001244008.2(KIF1A):c.525G>C (p.Gly175=)
NM_001244008.2(KIF1A):c.525G>T (p.Gly175=)
NM_001244008.2(KIF1A):c.5269G>T (p.Ala1757Ser)
NM_001244008.2(KIF1A):c.526C>T (p.Pro176Ser) rs1553638627
NM_001244008.2(KIF1A):c.5270C>T (p.Ala1757Val) rs1188467783
NM_001244008.2(KIF1A):c.5275G>C (p.Asp1759His)
NM_001244008.2(KIF1A):c.5280G>T (p.Lys1760Asn)
NM_001244008.2(KIF1A):c.5281G>A (p.Asp1761Asn)
NM_001244008.2(KIF1A):c.5281G>T (p.Asp1761Tyr)
NM_001244008.2(KIF1A):c.5302G>A (p.Ala1768Thr)
NM_001244008.2(KIF1A):c.5302G>T (p.Ala1768Ser) rs779787163
NM_001244008.2(KIF1A):c.5313_5314delinsAG (p.Leu1772Val)
NM_001244008.2(KIF1A):c.5320G>T (p.Ala1774Ser) rs2044773373
NM_001244008.2(KIF1A):c.5322C>G (p.Ala1774=)
NM_001244008.2(KIF1A):c.5328C>T (p.Thr1776=)
NM_001244008.2(KIF1A):c.532G>A (p.Val178Met)
NM_001244008.2(KIF1A):c.5333+7C>T
NM_001244008.2(KIF1A):c.5333+9G>A
NM_001244008.2(KIF1A):c.5333G>A (p.Arg1778Gln) rs1373988210
NM_001244008.2(KIF1A):c.5334-16C>T
NM_001244008.2(KIF1A):c.5334-18del rs2044688895
NM_001244008.2(KIF1A):c.5334G>A (p.Arg1778=) rs2044685522
NM_001244008.2(KIF1A):c.5339A>C (p.Lys1780Thr)
NM_001244008.2(KIF1A):c.5344T>C (p.Ser1782Pro)
NM_001244008.2(KIF1A):c.5349A>G (p.Arg1783=) rs2125553520
NM_001244008.2(KIF1A):c.5349_5351del (p.Arg1785del)
NM_001244008.2(KIF1A):c.534G>A (p.Val178=) rs1212898248
NM_001244008.2(KIF1A):c.5350AGG[1] (p.Arg1785del) rs760590728
NM_001244008.2(KIF1A):c.5351G>C (p.Arg1784Thr)
NM_001244008.2(KIF1A):c.5352G>A (p.Arg1784=) rs2125553497
NM_001244008.2(KIF1A):c.5355G>T (p.Arg1785Ser) rs779509876
NM_001244008.2(KIF1A):c.5359G>T (p.Ala1787Ser)
NM_001244008.2(KIF1A):c.5367_*11del (p.Met1789_Ter1792delinsXaa)
NM_001244008.2(KIF1A):c.5368C>G (p.Arg1790Gly)
NM_001244008.2(KIF1A):c.5369G>C (p.Arg1790Pro)
NM_001244008.2(KIF1A):c.536A>G (p.Glu179Gly) rs879253948
NM_001244008.2(KIF1A):c.53G>A (p.Arg18Gln) rs1056534650
NM_001244008.2(KIF1A):c.554C>T (p.Ala185Val) rs2126071244
NM_001244008.2(KIF1A):c.561C>G (p.Thr187=)
NM_001244008.2(KIF1A):c.564C>T (p.Ser188=)
NM_001244008.2(KIF1A):c.567C>T (p.Tyr189=)
NM_001244008.2(KIF1A):c.576C>T (p.Ile192=)
NM_001244008.2(KIF1A):c.579G>A (p.Gln193=)
NM_001244008.2(KIF1A):c.587T>C (p.Met196Thr)
NM_001244008.2(KIF1A):c.590A>T (p.Asp197Val)
NM_001244008.2(KIF1A):c.608+12G>T
NM_001244008.2(KIF1A):c.608+13A>G rs2126070994
NM_001244008.2(KIF1A):c.608+16C>A rs2054746900
NM_001244008.2(KIF1A):c.608+18C>G
NM_001244008.2(KIF1A):c.608+18C>T rs749379894
NM_001244008.2(KIF1A):c.608+6T>C
NM_001244008.2(KIF1A):c.609-15C>T
NM_001244008.2(KIF1A):c.609-17G>A
NM_001244008.2(KIF1A):c.609-19G>A
NM_001244008.2(KIF1A):c.609-19G>C
NM_001244008.2(KIF1A):c.609-1G>A rs1559527796
NM_001244008.2(KIF1A):c.609-20C>G
NM_001244008.2(KIF1A):c.609-3C>T rs2054554619
NM_001244008.2(KIF1A):c.609-6C>T
NM_001244008.2(KIF1A):c.618G>C (p.Ala206=)
NM_001244008.2(KIF1A):c.633T>G (p.Asn211Lys)
NM_001244008.2(KIF1A):c.636G>A (p.Glu212=)
NM_001244008.2(KIF1A):c.642C>T (p.Ser214=)
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001244008.2(KIF1A):c.64C>T (p.Arg22Cys) rs767331601
NM_001244008.2(KIF1A):c.651C>T (p.Ser217=) rs267599291
NM_001244008.2(KIF1A):c.656C>A (p.Ala219Asp)
NM_001244008.2(KIF1A):c.670A>G (p.Ile224Val) rs2126062499
NM_001244008.2(KIF1A):c.675C>T (p.Phe225=)
NM_001244008.2(KIF1A):c.681G>A (p.Gln227=)
NM_001244008.2(KIF1A):c.684G>A (p.Lys228=)
NM_001244008.2(KIF1A):c.689A>G (p.His230Arg)
NM_001244008.2(KIF1A):c.692A>G (p.Asp231Gly) rs773459672
NM_001244008.2(KIF1A):c.693C>A (p.Asp231Glu)
NM_001244008.2(KIF1A):c.6C>A (p.Ala2=)
NM_001244008.2(KIF1A):c.703A>G (p.Asn235Asp)
NM_001244008.2(KIF1A):c.704A>G (p.Asn235Ser)
NM_001244008.2(KIF1A):c.710C>T (p.Thr237Ile)
NM_001244008.2(KIF1A):c.720+10T>C
NM_001244008.2(KIF1A):c.720+12G>A rs999172982
NM_001244008.2(KIF1A):c.720+17A>T
NM_001244008.2(KIF1A):c.720+18C>T
NM_001244008.2(KIF1A):c.720+3G>A rs759856763
NM_001244008.2(KIF1A):c.720+5G>C rs377502239
NM_001244008.2(KIF1A):c.720+9G>A
NM_001244008.2(KIF1A):c.721-11dup rs2054377646
NM_001244008.2(KIF1A):c.721-13T>G
NM_001244008.2(KIF1A):c.721-18A>C
NM_001244008.2(KIF1A):c.721-8T>C
NM_001244008.2(KIF1A):c.721G>T (p.Val241Leu)
NM_001244008.2(KIF1A):c.734G>T (p.Ser245Ile)
NM_001244008.2(KIF1A):c.737T>G (p.Leu246Arg) rs1575626071
NM_001244008.2(KIF1A):c.740T>C (p.Val247Ala)
NM_001244008.2(KIF1A):c.741G>A (p.Val247=) rs1187398914
NM_001244008.2(KIF1A):c.745C>A (p.Leu249Met)
NM_001244008.2(KIF1A):c.748G>T (p.Ala250Ser) rs2054374864
NM_001244008.2(KIF1A):c.749C>A (p.Ala250Asp) rs1559526692
NM_001244008.2(KIF1A):c.751G>A (p.Gly251Arg)
NM_001244008.2(KIF1A):c.753G>A (p.Gly251=) rs2126054446
NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys) rs672601369
NM_001244008.2(KIF1A):c.759G>C (p.Glu253Asp) rs762126771
NM_001244008.2(KIF1A):c.760C>G (p.Arg254Gly) rs879253888
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.762G>A (p.Arg254=)
NM_001244008.2(KIF1A):c.764C>A (p.Ala255Asp)
NM_001244008.2(KIF1A):c.766G>A (p.Asp256Asn)
NM_001244008.2(KIF1A):c.773C>A (p.Thr258Lys) rs1553638086
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.780C>T (p.Ala260=)
NM_001244008.2(KIF1A):c.785G>T (p.Gly262Val)
NM_001244008.2(KIF1A):c.785_798+1del rs2126054169
NM_001244008.2(KIF1A):c.786C>G (p.Gly262=) rs1290016793
NM_001244008.2(KIF1A):c.788C>A (p.Thr263Lys)
NM_001244008.2(KIF1A):c.791G>A (p.Arg264His) rs1413440372
NM_001244008.2(KIF1A):c.793C>G (p.Leu265Val) rs1559526605
NM_001244008.2(KIF1A):c.798+12G>A
NM_001244008.2(KIF1A):c.798+12G>C
NM_001244008.2(KIF1A):c.798+12GCC[3]
NM_001244008.2(KIF1A):c.798+14C>T
NM_001244008.2(KIF1A):c.798+17C>G
NM_001244008.2(KIF1A):c.798+17C>T
NM_001244008.2(KIF1A):c.798+19T>C
NM_001244008.2(KIF1A):c.798+1G>A rs1064796565
NM_001244008.2(KIF1A):c.798+2T>G
NM_001244008.2(KIF1A):c.798+4G>A
NM_001244008.2(KIF1A):c.799-16T>C
NM_001244008.2(KIF1A):c.799-18T>C
NM_001244008.2(KIF1A):c.799-19C>G rs1361114116
NM_001244008.2(KIF1A):c.799-20A>C
NM_001244008.2(KIF1A):c.799-3C>A rs772721638
NM_001244008.2(KIF1A):c.799-4G>C
NM_001244008.2(KIF1A):c.799-4G>T rs759945798
NM_001244008.2(KIF1A):c.799-7C>T
NM_001244008.2(KIF1A):c.799-8G>C
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys) rs1553637932
NM_001244008.2(KIF1A):c.799G>C (p.Glu267Gln) rs1553637932
NM_001244008.2(KIF1A):c.79A>G (p.Ile27Val)
NM_001244008.2(KIF1A):c.79A>T (p.Ile27Phe) rs2056552812
NM_001244008.2(KIF1A):c.800A>G (p.Glu267Gly)
NM_001244008.2(KIF1A):c.801G>T (p.Glu267Asp) rs2126050077
NM_001244008.2(KIF1A):c.802G>T (p.Gly268Trp)
NM_001244008.2(KIF1A):c.803G>A (p.Gly268Glu) rs1057518226
NM_001244008.2(KIF1A):c.805del (p.Ala269fs)
NM_001244008.2(KIF1A):c.806C>T (p.Ala269Val)
NM_001244008.2(KIF1A):c.807C>T (p.Ala269=)
NM_001244008.2(KIF1A):c.815A>G (p.Asn272Ser) rs876661283
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_001244008.2(KIF1A):c.822G>A (p.Ser274=) rs553008418
NM_001244008.2(KIF1A):c.822G>T (p.Ser274=) rs553008418
NM_001244008.2(KIF1A):c.824T>A (p.Leu275Gln)
NM_001244008.2(KIF1A):c.825G>A (p.Leu275=) rs2126049902
NM_001244008.2(KIF1A):c.828C>T (p.Thr276=)
NM_001244008.2(KIF1A):c.831C>T (p.Thr277=) rs1575624578
NM_001244008.2(KIF1A):c.834G>A (p.Leu278=)
NM_001244008.2(KIF1A):c.842T>A (p.Val281Asp)
NM_001244008.2(KIF1A):c.844_846dup (p.Ile282dup) rs2054276892
NM_001244008.2(KIF1A):c.848C>G (p.Ser283Cys) rs1291269882
NM_001244008.2(KIF1A):c.849C>A (p.Ser283=)
NM_001244008.2(KIF1A):c.850G>T (p.Ala284Ser) rs756136593
NM_001244008.2(KIF1A):c.855G>C (p.Leu285=) rs2054275350
NM_001244008.2(KIF1A):c.858T>C (p.Ala286=) rs1475414889
NM_001244008.2(KIF1A):c.864+11C>A rs377722824
NM_001244008.2(KIF1A):c.864+11C>G
NM_001244008.2(KIF1A):c.864+11C>T rs377722824
NM_001244008.2(KIF1A):c.864+12G>T
NM_001244008.2(KIF1A):c.864+13G>A
NM_001244008.2(KIF1A):c.864+15C>T
NM_001244008.2(KIF1A):c.864+18G>A
NM_001244008.2(KIF1A):c.864+1_864+24del
NM_001244008.2(KIF1A):c.864+1del rs2126049633
NM_001244008.2(KIF1A):c.864+3G>A
NM_001244008.2(KIF1A):c.864+5G>A
NM_001244008.2(KIF1A):c.864+5G>C
NM_001244008.2(KIF1A):c.864+6T>C
NM_001244008.2(KIF1A):c.864+7G>A rs2126049596
NM_001244008.2(KIF1A):c.864+8G>A rs371393071
NM_001244008.2(KIF1A):c.864+8G>T rs371393071
NM_001244008.2(KIF1A):c.865-13T>C
NM_001244008.2(KIF1A):c.865-19T>C
NM_001244008.2(KIF1A):c.865-24CT[2] rs140674901
NM_001244008.2(KIF1A):c.865-24CT[3]
NM_001244008.2(KIF1A):c.865-8C>G rs1407458603
NM_001244008.2(KIF1A):c.869C>T (p.Ser290Phe)
NM_001244008.2(KIF1A):c.86A>T (p.Gln29Leu)
NM_001244008.2(KIF1A):c.873A>G (p.Gly291=)
NM_001244008.2(KIF1A):c.874C>G (p.Pro292Ala)
NM_001244008.2(KIF1A):c.875C>T (p.Pro292Leu)
NM_001244008.2(KIF1A):c.882+13C>T rs2126046264
NM_001244008.2(KIF1A):c.882+17A>G rs2126046219
NM_001244008.2(KIF1A):c.882+19_882+38del rs2126045936
NM_001244008.2(KIF1A):c.882+20C>G
NM_001244008.2(KIF1A):c.882+5G>A rs2054211236
NM_001244008.2(KIF1A):c.882+6C>A rs1290737564
NM_001244008.2(KIF1A):c.882+6C>G rs1290737564
NM_001244008.2(KIF1A):c.882+7G>A
NM_001244008.2(KIF1A):c.882+9C>T
NM_001244008.2(KIF1A):c.883-10T>C
NM_001244008.2(KIF1A):c.883-11C>T
NM_001244008.2(KIF1A):c.883-18A>G
NM_001244008.2(KIF1A):c.883-5C>G rs201408083
NM_001244008.2(KIF1A):c.883-5C>T
NM_001244008.2(KIF1A):c.883-6C>G
NM_001244008.2(KIF1A):c.883-7C>A
NM_001244008.2(KIF1A):c.883-7C>G rs957063587
NM_001244008.2(KIF1A):c.883-8C>A
NM_001244008.2(KIF1A):c.883-9C>A
NM_001244008.2(KIF1A):c.886A>G (p.Lys296Glu)
NM_001244008.2(KIF1A):c.893AGA[2] (p.Lys300del) rs751165127
NM_001244008.2(KIF1A):c.902C>T (p.Thr301Ile)
NM_001244008.2(KIF1A):c.909C>T (p.Phe303=)
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001244008.2(KIF1A):c.915G>T (p.Pro305=)
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_001244008.2(KIF1A):c.928G>A (p.Val310Met)
NM_001244008.2(KIF1A):c.930G>A (p.Val310=)
NM_001244008.2(KIF1A):c.931T>C (p.Leu311=)
NM_001244008.2(KIF1A):c.933G>A (p.Leu311=)
NM_001244008.2(KIF1A):c.933G>T (p.Leu311Phe)
NM_001244008.2(KIF1A):c.934A>C (p.Thr312Pro) rs2052660081
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_001244008.2(KIF1A):c.954C>A (p.Asn318Lys) rs1553635953
NM_001244008.2(KIF1A):c.958+10T>C
NM_001244008.2(KIF1A):c.958+11G>T
NM_001244008.2(KIF1A):c.958+14G>C
NM_001244008.2(KIF1A):c.958+1G>C rs780380861
NM_001244008.2(KIF1A):c.958+8C>A
NM_001244008.2(KIF1A):c.959-11T>C
NM_001244008.2(KIF1A):c.959-12T>G
NM_001244008.2(KIF1A):c.959-13C>T
NM_001244008.2(KIF1A):c.959-15G>A
NM_001244008.2(KIF1A):c.959-16G>T
NM_001244008.2(KIF1A):c.959-18C>G
NM_001244008.2(KIF1A):c.959-9_959-7del rs779790393
NM_001244008.2(KIF1A):c.959G>A (p.Gly320Asp)
NM_001244008.2(KIF1A):c.960C>T (p.Gly320=) rs764792688
NM_001244008.2(KIF1A):c.961G>A (p.Gly321Ser)
NM_001244008.2(KIF1A):c.971G>A (p.Arg324Lys)
NM_001244008.2(KIF1A):c.972G>C (p.Arg324Ser)
NM_001244008.2(KIF1A):c.984G>A (p.Val328=)
NM_001244008.2(KIF1A):c.997C>G (p.Pro333Ala)
NM_001253852.3(AP4B1):c.1023C>T (p.Asn341=)
NM_001253852.3(AP4B1):c.1067G>T (p.Cys356Phe) rs770948820
NM_001253852.3(AP4B1):c.1076T>G (p.Val359Gly) rs1668009628
NM_001253852.3(AP4B1):c.1098T>C (p.Ala366=)
NM_001253852.3(AP4B1):c.1098dup (p.Ala367fs)
NM_001253852.3(AP4B1):c.1106_1114+8del
NM_001253852.3(AP4B1):c.1112_1113insGGAGC (p.Ile371fs)
NM_001253852.3(AP4B1):c.1114+14C>T
NM_001253852.3(AP4B1):c.1115-13C>T
NM_001253852.3(AP4B1):c.1122_1123insTTGTAGGTGCCAGGACTTCTTTTGTAGGT (p.Ala375delinsLeuTer)
NM_001253852.3(AP4B1):c.113+10A>G
NM_001253852.3(AP4B1):c.113+10A>T
NM_001253852.3(AP4B1):c.113+13T>G
NM_001253852.3(AP4B1):c.113+20G>T
NM_001253852.3(AP4B1):c.113G>C (p.Arg38Thr)
NM_001253852.3(AP4B1):c.114-10C>T rs200301524
NM_001253852.3(AP4B1):c.114-13G>T
NM_001253852.3(AP4B1):c.114-14T>C
NM_001253852.3(AP4B1):c.114-2A>C rs879255396
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.1163A>C (p.Glu388Ala) rs1667823558
NM_001253852.3(AP4B1):c.1177C>A (p.Arg393=)
NM_001253852.3(AP4B1):c.1181A>C (p.Gln394Pro)
NM_001253852.3(AP4B1):c.1198+5T>C rs1276393155
NM_001253852.3(AP4B1):c.1198+7C>A
NM_001253852.3(AP4B1):c.1199-13G>A
NM_001253852.3(AP4B1):c.1199-18C>T
NM_001253852.3(AP4B1):c.1240C>T (p.Gln414Ter)
NM_001253852.3(AP4B1):c.1258T>C (p.Cys420Arg) rs1227614224
NM_001253852.3(AP4B1):c.1269G>A (p.Leu423=)
NM_001253852.3(AP4B1):c.1272C>T (p.Pro424=) rs759742089
NM_001253852.3(AP4B1):c.1294G>A (p.Asp432Asn) rs1667689616
NM_001253852.3(AP4B1):c.1302+8G>A rs2101008518
NM_001253852.3(AP4B1):c.1324_1331del (p.Leu442fs)
NM_001253852.3(AP4B1):c.1331G>A (p.Gly444Asp)
NM_001253852.3(AP4B1):c.1342G>A (p.Glu448Lys) rs2100998541
NM_001253852.3(AP4B1):c.1357G>T (p.Ala453Ser) rs2100998376
NM_001253852.3(AP4B1):c.1407T>C (p.Phe469=)
NM_001253852.3(AP4B1):c.1444C>T (p.Arg482Cys)
NM_001253852.3(AP4B1):c.1459C>A (p.Arg487=)
NM_001253852.3(AP4B1):c.1463C>A (p.Pro488His)
NM_001253852.3(AP4B1):c.1474C>G (p.Gln492Glu) rs1054252163
NM_001253852.3(AP4B1):c.1510+12A>G
NM_001253852.3(AP4B1):c.1511-19A>G
NM_001253852.3(AP4B1):c.1560C>T (p.Arg520=)
NM_001253852.3(AP4B1):c.1576A>G (p.Ile526Val)
NM_001253852.3(AP4B1):c.1585G>A (p.Val529Ile)
NM_001253852.3(AP4B1):c.1588A>G (p.Lys530Glu)
NM_001253852.3(AP4B1):c.1596T>C (p.Ile532=) rs2100995308
NM_001253852.3(AP4B1):c.1633T>C (p.Leu545=) rs2100995025
NM_001253852.3(AP4B1):c.1644G>A (p.Pro548=)
NM_001253852.3(AP4B1):c.1660A>T (p.Asn554Tyr) rs2100994814
NM_001253852.3(AP4B1):c.1696G>C (p.Val566Leu) rs2100994599
NM_001253852.3(AP4B1):c.1708G>A (p.Ala570Thr)
NM_001253852.3(AP4B1):c.1724T>G (p.Ile575Ser)
NM_001253852.3(AP4B1):c.1739G>T (p.Gly580Val) rs762174414
NM_001253852.3(AP4B1):c.1747C>T (p.Arg583Cys)
NM_001253852.3(AP4B1):c.176C>G (p.Thr59Ser)
NM_001253852.3(AP4B1):c.1785C>T (p.Ala595=)
NM_001253852.3(AP4B1):c.1786G>A (p.Ala596Thr)
NM_001253852.3(AP4B1):c.1792+11T>C
NM_001253852.3(AP4B1):c.1792+16A>G
NM_001253852.3(AP4B1):c.1792+8C>T
NM_001253852.3(AP4B1):c.1793-9C>A
NM_001253852.3(AP4B1):c.1819G>C (p.Glu607Gln) rs1166699876
NM_001253852.3(AP4B1):c.1821G>A (p.Glu607=)
NM_001253852.3(AP4B1):c.182A>T (p.Asp61Val)
NM_001253852.3(AP4B1):c.183T>C (p.Asp61=)
NM_001253852.3(AP4B1):c.1863C>G (p.Val621=)
NM_001253852.3(AP4B1):c.1899A>G (p.Lys633=)
NM_001253852.3(AP4B1):c.1901C>G (p.Thr634Ser)
NM_001253852.3(AP4B1):c.1919T>G (p.Val640Gly)
NM_001253852.3(AP4B1):c.1922C>T (p.Ala641Val) rs1667332064
NM_001253852.3(AP4B1):c.1926T>C (p.His642=) rs1480000484
NM_001253852.3(AP4B1):c.1931A>G (p.Gln644Arg) rs1667330271
NM_001253852.3(AP4B1):c.1939C>G (p.Pro647Ala)
NM_001253852.3(AP4B1):c.1962T>C (p.Pro654=) rs1667327766
NM_001253852.3(AP4B1):c.1981C>A (p.Leu661Ile) rs1667326839
NM_001253852.3(AP4B1):c.198G>C (p.Lys66Asn) rs374241047
NM_001253852.3(AP4B1):c.199T>C (p.Leu67=)
NM_001253852.3(AP4B1):c.2020G>T (p.Ala674Ser) rs769479430
NM_001253852.3(AP4B1):c.2040A>G (p.Lys680=)
NM_001253852.3(AP4B1):c.207T>C (p.Tyr69=)
NM_001253852.3(AP4B1):c.2082A>T (p.Leu694Phe) rs1553256829
NM_001253852.3(AP4B1):c.2083A>C (p.Thr695Pro)
NM_001253852.3(AP4B1):c.2099A>T (p.Glu700Val) rs768308955
NM_001253852.3(AP4B1):c.2123_2133del (p.Ile708fs)
NM_001253852.3(AP4B1):c.2162A>G (p.Asn721Ser)
NM_001253852.3(AP4B1):c.2179T>C (p.Leu727=)
NM_001253852.3(AP4B1):c.2211A>G (p.Ile737Met)
NM_001253852.3(AP4B1):c.229C>T (p.Pro77Ser)
NM_001253852.3(AP4B1):c.298A>G (p.Met100Val) rs752682155
NM_001253852.3(AP4B1):c.320G>A (p.Arg107Gln)
NM_001253852.3(AP4B1):c.323G>T (p.Ser108Ile)
NM_001253852.3(AP4B1):c.336C>T (p.Leu112=) rs1461336598
NM_001253852.3(AP4B1):c.337A>G (p.Arg113Gly) rs1668423302
NM_001253852.3(AP4B1):c.338+19G>C rs2101043152
NM_001253852.3(AP4B1):c.338+20_338+23del rs537405509
NM_001253852.3(AP4B1):c.338+5G>A rs1019204290
NM_001253852.3(AP4B1):c.339-12T>C
NM_001253852.3(AP4B1):c.339-16A>C rs766923052
NM_001253852.3(AP4B1):c.339-16A>G
NM_001253852.3(AP4B1):c.339-7T>C
NM_001253852.3(AP4B1):c.352C>T (p.Gln118Ter) rs1013939776
NM_001253852.3(AP4B1):c.385C>T (p.Leu129=)
NM_001253852.3(AP4B1):c.388_389dup (p.Asp131fs)
NM_001253852.3(AP4B1):c.3G>C (p.Met1Ile) rs2101057747
NM_001253852.3(AP4B1):c.402A>T (p.Ser134=) rs34751342
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer) rs1553259463
NM_001253852.3(AP4B1):c.412A>G (p.Arg138Gly) rs943287870
NM_001253852.3(AP4B1):c.41A>G (p.Lys14Arg)
NM_001253852.3(AP4B1):c.426T>C (p.Leu142=)
NM_001253852.3(AP4B1):c.444dup (p.Asn149Ter)
NM_001253852.3(AP4B1):c.445A>T (p.Asn149Tyr)
NM_001253852.3(AP4B1):c.456A>C (p.Gly152=)
NM_001253852.3(AP4B1):c.469+17C>A
NM_001253852.3(AP4B1):c.470-14G>A
NM_001253852.3(AP4B1):c.470-6T>G
NM_001253852.3(AP4B1):c.480G>C (p.Leu160=)
NM_001253852.3(AP4B1):c.505C>A (p.Arg169Ser) rs753402898
NM_001253852.3(AP4B1):c.512A>G (p.Gln171Arg)
NM_001253852.3(AP4B1):c.521T>C (p.Ile174Thr)
NM_001253852.3(AP4B1):c.529_531del (p.Val177del)
NM_001253852.3(AP4B1):c.52_53del (p.Cys18fs)
NM_001253852.3(AP4B1):c.559C>A (p.Leu187Met)
NM_001253852.3(AP4B1):c.576_577delinsTA (p.Val193Ile) rs1553259191
NM_001253852.3(AP4B1):c.579_581del (p.Val194del) rs750563520
NM_001253852.3(AP4B1):c.587A>G (p.Asn196Ser) rs1571569612
NM_001253852.3(AP4B1):c.602A>G (p.His201Arg)
NM_001253852.3(AP4B1):c.612A>G (p.Leu204=)
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter) rs762612591
NM_001253852.3(AP4B1):c.617+8T>C rs2101034096
NM_001253852.3(AP4B1):c.618-12T>C
NM_001253852.3(AP4B1):c.639G>T (p.Trp213Cys)
NM_001253852.3(AP4B1):c.654A>G (p.Val218=)
NM_001253852.3(AP4B1):c.678A>C (p.Gln226His)
NM_001253852.3(AP4B1):c.67C>A (p.Gln23Lys) rs752491831
NM_001253852.3(AP4B1):c.770A>C (p.Lys257Thr)
NM_001253852.3(AP4B1):c.778C>A (p.Leu260Met)
NM_001253852.3(AP4B1):c.783C>A (p.Ile261=) rs1352725563
NM_001253852.3(AP4B1):c.810A>G (p.Gln270=)
NM_001253852.3(AP4B1):c.820C>T (p.Leu274Phe)
NM_001253852.3(AP4B1):c.846A>G (p.Leu282=)
NM_001253852.3(AP4B1):c.876_877del (p.Cys293fs)
NM_001253852.3(AP4B1):c.87C>T (p.Tyr29=)
NM_001253852.3(AP4B1):c.880T>C (p.Phe294Leu) rs541013298
NM_001253852.3(AP4B1):c.901C>T (p.Arg301Cys)
NM_001253852.3(AP4B1):c.902G>A (p.Arg301His)
NM_001253852.3(AP4B1):c.926del (p.Gly309fs) rs2101025777
NM_001253852.3(AP4B1):c.939C>T (p.Ser313=)
NM_001253852.3(AP4B1):c.952T>C (p.Phe318Leu)
NM_001253852.3(AP4B1):c.962C>T (p.Ser321Phe) rs1280737712
NM_001253852.3(AP4B1):c.985A>T (p.Lys329Ter) rs2101024933
NM_001271803.2(REEP2):c.100G>A (p.Glu34Lys)
NM_001271803.2(REEP2):c.105+13C>T
NM_001271803.2(REEP2):c.105+16T>C
NM_001271803.2(REEP2):c.119T>G (p.Met40Arg) rs1763822813
NM_001271803.2(REEP2):c.132C>G (p.Val44=)
NM_001271803.2(REEP2):c.149C>T (p.Thr50Met)
NM_001271803.2(REEP2):c.182+11G>C
NM_001271803.2(REEP2):c.182+13G>A
NM_001271803.2(REEP2):c.182+18del
NM_001271803.2(REEP2):c.183-13C>T
NM_001271803.2(REEP2):c.183-15C>T
NM_001271803.2(REEP2):c.183-16G>A
NM_001271803.2(REEP2):c.1A>G (p.Met1Val) rs2127020121
NM_001271803.2(REEP2):c.222A>G (p.Ile74Met)
NM_001271803.2(REEP2):c.223T>C (p.Trp75Arg)
NM_001271803.2(REEP2):c.235C>T (p.Pro79Ser)
NM_001271803.2(REEP2):c.303+12C>G
NM_001271803.2(REEP2):c.304-4A>C
NM_001271803.2(REEP2):c.312C>T (p.Asp104=)
NM_001271803.2(REEP2):c.32+10G>C rs2127020153
NM_001271803.2(REEP2):c.32+14C>T
NM_001271803.2(REEP2):c.321C>T (p.Ile107=)
NM_001271803.2(REEP2):c.324G>A (p.Thr108=) rs150568316
NM_001271803.2(REEP2):c.33-10G>A rs370528887
NM_001271803.2(REEP2):c.33-10G>C
NM_001271803.2(REEP2):c.33-17C>T
NM_001271803.2(REEP2):c.33-5C>T
NM_001271803.2(REEP2):c.331C>G (p.Arg111Gly)
NM_001271803.2(REEP2):c.360G>A (p.Arg120=)
NM_001271803.2(REEP2):c.393_416dup (p.Ala138_Lys139insAsnAlaAlaValThrAlaAlaAla)
NM_001271803.2(REEP2):c.417+10G>A
NM_001271803.2(REEP2):c.418-13G>A
NM_001271803.2(REEP2):c.418-16G>A
NM_001271803.2(REEP2):c.424G>C (p.Gly142Arg)
NM_001271803.2(REEP2):c.429G>A (p.Val143=) rs1465264322
NM_001271803.2(REEP2):c.432G>A (p.Leu144=)
NM_001271803.2(REEP2):c.447C>A (p.Arg149=)
NM_001271803.2(REEP2):c.483C>G (p.Asp161Glu)
NM_001271803.2(REEP2):c.484G>A (p.Glu162Lys)
NM_001271803.2(REEP2):c.486G>A (p.Glu162=)
NM_001271803.2(REEP2):c.496C>T (p.Pro166Ser)
NM_001271803.2(REEP2):c.49C>T (p.Leu17=)
NM_001271803.2(REEP2):c.501G>T (p.Leu167=)
NM_001271803.2(REEP2):c.508C>T (p.Pro170Ser)
NM_001271803.2(REEP2):c.513C>A (p.Asp171Glu)
NM_001271803.2(REEP2):c.513C>T (p.Asp171=)
NM_001271803.2(REEP2):c.514G>A (p.Gly172Ser)
NM_001271803.2(REEP2):c.518G>A (p.Arg173His)
NM_001271803.2(REEP2):c.555C>T (p.Ile185=)
NM_001271803.2(REEP2):c.556G>A (p.Glu186Lys)
NM_001271803.2(REEP2):c.565+18G>T
NM_001271803.2(REEP2):c.566-11C>T
NM_001271803.2(REEP2):c.566-12C>T
NM_001271803.2(REEP2):c.574C>T (p.Pro192Ser)
NM_001271803.2(REEP2):c.606G>A (p.Pro202=)
NM_001271803.2(REEP2):c.606G>C (p.Pro202=) rs139556429
NM_001271803.2(REEP2):c.617G>A (p.Arg206Gln)
NM_001271803.2(REEP2):c.683C>T (p.Ala228Val)
NM_001271803.2(REEP2):c.684G>A (p.Ala228=)
NM_001271803.2(REEP2):c.684G>T (p.Ala228=)
NM_001271803.2(REEP2):c.691G>A (p.Ala231Thr)
NM_001271803.2(REEP2):c.696+11T>A
NM_001271803.2(REEP2):c.696+6G>C
NM_001271803.2(REEP2):c.696+8C>T
NM_001271803.2(REEP2):c.696+9A>C
NM_001271803.2(REEP2):c.697-11T>C
NM_001271803.2(REEP2):c.722C>A (p.Thr241Asn)
NM_001271803.2(REEP2):c.726G>C (p.Arg242=)
NM_001271803.2(REEP2):c.739A>G (p.Thr247Ala)
NM_001271803.2(REEP2):c.747C>T (p.Gly249=)
NM_001271803.2(REEP2):c.753C>T (p.Gly251=)
NM_001271803.2(REEP2):c.86del (p.Thr29fs) rs2127021824
NM_001271803.2(REEP2):c.94G>A (p.Val32Met)
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.115C>T (p.Arg39Ter)
NM_001351169.2(NT5C2):c.1160-13A>C
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.1408T>C (p.Tyr470His)
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.1677G>A (p.Glu559=)
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.43A>G (p.Met15Val)
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.539+15T>C
NM_001351169.2(NT5C2):c.539+5_539+8del
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.814-20T>A
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.135A>G (p.Arg45=)
NM_001368809.2(AMPD2):c.1365G>A (p.Thr455=)
NM_001368809.2(AMPD2):c.1383G>A (p.Gly461=)
NM_001368809.2(AMPD2):c.1404C>T (p.Ile468=)
NM_001368809.2(AMPD2):c.1408-3_1418del
NM_001368809.2(AMPD2):c.1422C>T (p.Asp474=)
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.1470C>T (p.Tyr490=)
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.1611G>A (p.Gln537=)
NM_001368809.2(AMPD2):c.1637C>T (p.Pro546Leu)
NM_001368809.2(AMPD2):c.1698+13C>T
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.189G>C (p.Thr63=) rs745929697
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.1983+15C>T
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.2154C>A (p.Thr718=)
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.2158-19G>A
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.2178C>T (p.Tyr726=)
NM_001368809.2(AMPD2):c.222+12C>T
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.2269-13C>T
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.2448G>A (p.Ala816=)
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.354-16C>T
NM_001368809.2(AMPD2):c.354-20C>T
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.42del (p.Lys14fs)
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.719-8C>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.741G>T (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.861-2A>G
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.92-15T>C
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_001371279.1(REEP1):c.103T>A (p.Tyr35Asn) rs1574077431
NM_001371279.1(REEP1):c.104A>C (p.Tyr35Ser)
NM_001371279.1(REEP1):c.104_105del (p.Tyr35fs)
NM_001371279.1(REEP1):c.105+6T>C rs1678132370
NM_001371279.1(REEP1):c.106-11T>C
NM_001371279.1(REEP1):c.106-12C>G
NM_001371279.1(REEP1):c.106-17G>T
NM_001371279.1(REEP1):c.106-1G>A
NM_001371279.1(REEP1):c.106-2A>T rs1677010564
NM_001371279.1(REEP1):c.106G>A (p.Val36Ile)
NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter) rs1060503494
NM_001371279.1(REEP1):c.116T>G (p.Met39Arg) rs1574052888
NM_001371279.1(REEP1):c.128_138dup (p.Phe48fs)
NM_001371279.1(REEP1):c.131T>C (p.Ile44Thr)
NM_001371279.1(REEP1):c.137C>T (p.Ala46Val)
NM_001371279.1(REEP1):c.15C>A (p.Ile5=)
NM_001371279.1(REEP1):c.164C>A (p.Thr55Lys) rs1677004351
NM_001371279.1(REEP1):c.166G>A (p.Asp56Asn) rs1060503493
NM_001371279.1(REEP1):c.16A>C (p.Ile6Leu) rs1681106072
NM_001371279.1(REEP1):c.176T>C (p.Leu59Pro) rs1553462741
NM_001371279.1(REEP1):c.179G>A (p.Cys60Tyr) rs2104302794
NM_001371279.1(REEP1):c.182+16G>A
NM_001371279.1(REEP1):c.182+17T>C
NM_001371279.1(REEP1):c.182+4A>G
NM_001371279.1(REEP1):c.182+5G>A rs766166355
NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter) rs1558898568
NM_001371279.1(REEP1):c.183-12C>T
NM_001371279.1(REEP1):c.183-13TC[6] rs1558891883
NM_001371279.1(REEP1):c.183-20G>A
NM_001371279.1(REEP1):c.183-2A>G rs387906264
NM_001371279.1(REEP1):c.191T>C (p.Phe64Ser)
NM_001371279.1(REEP1):c.194A>G (p.Tyr65Cys) rs1553461508
NM_001371279.1(REEP1):c.195T>A (p.Tyr65Ter) rs1676463508
NM_001371279.1(REEP1):c.200A>T (p.Glu67Val) rs1553461506
NM_001371279.1(REEP1):c.203T>C (p.Leu68Pro) rs2104244891
NM_001371279.1(REEP1):c.208dup (p.Ile70fs)
NM_001371279.1(REEP1):c.209T>G (p.Ile70Arg) rs1676462330
NM_001371279.1(REEP1):c.211G>A (p.Ala71Thr)
NM_001371279.1(REEP1):c.220G>T (p.Ala74Ser)
NM_001371279.1(REEP1):c.224G>A (p.Trp75Ter) rs2104244665
NM_001371279.1(REEP1):c.228G>T (p.Leu76=)
NM_001371279.1(REEP1):c.229C>T (p.Leu77=)
NM_001371279.1(REEP1):c.230T>C (p.Leu77Pro)
NM_001371279.1(REEP1):c.244A>G (p.Lys82Glu) rs934249498
NM_001371279.1(REEP1):c.250_253delinsCTCT (p.Ser84_Ser85delinsLeuCys) rs1676459756
NM_001371279.1(REEP1):c.250_253dup (p.Ser85fs)
NM_001371279.1(REEP1):c.255_266del (p.Ser85_Tyr88del) rs1676458313
NM_001371279.1(REEP1):c.258C>T (p.Leu86=)
NM_001371279.1(REEP1):c.269A>G (p.Lys90Arg)
NM_001371279.1(REEP1):c.26T>C (p.Leu9Pro)
NM_001371279.1(REEP1):c.282C>T (p.Pro94=) rs2104244187
NM_001371279.1(REEP1):c.287T>C (p.Leu96Pro) rs1553461473
NM_001371279.1(REEP1):c.288A>G (p.Leu96=)
NM_001371279.1(REEP1):c.289T>C (p.Ser97Pro) rs1558891694
NM_001371279.1(REEP1):c.289T>G (p.Ser97Ala) rs1558891694
NM_001371279.1(REEP1):c.298G>A (p.Glu100Lys) rs2104243924
NM_001371279.1(REEP1):c.2T>C (p.Met1Thr) rs1681107508
NM_001371279.1(REEP1):c.303+13G>T
NM_001371279.1(REEP1):c.303+1G>A
NM_001371279.1(REEP1):c.303+6A>G rs755901202
NM_001371279.1(REEP1):c.303+7T>C rs1574039442
NM_001371279.1(REEP1):c.303G>A (p.Lys101=)
NM_001371279.1(REEP1):c.304-1G>C
NM_001371279.1(REEP1):c.304-3C>G rs1676314210
NM_001371279.1(REEP1):c.304-5G>T rs2104225135
NM_001371279.1(REEP1):c.304-9C>T rs771485330
NM_001371279.1(REEP1):c.304G>A (p.Glu102Lys)
NM_001371279.1(REEP1):c.309C>A (p.Ile103=) rs551468138
NM_001371279.1(REEP1):c.309C>T (p.Ile103=) rs551468138
NM_001371279.1(REEP1):c.32+14T>A rs1057522806
NM_001371279.1(REEP1):c.32+16C>T
NM_001371279.1(REEP1):c.32+17C>A
NM_001371279.1(REEP1):c.32+17C>T rs942655720
NM_001371279.1(REEP1):c.32+19del
NM_001371279.1(REEP1):c.32+2T>C
NM_001371279.1(REEP1):c.32+4A>G
NM_001371279.1(REEP1):c.32+5G>A rs1681105460
NM_001371279.1(REEP1):c.32+6del
NM_001371279.1(REEP1):c.32+7G>T
NM_001371279.1(REEP1):c.322G>A (p.Val108Ile) rs1474498257
NM_001371279.1(REEP1):c.33-15C>G
NM_001371279.1(REEP1):c.33-16T>A rs2104395246
NM_001371279.1(REEP1):c.33-17G>A
NM_001371279.1(REEP1):c.33-18T>C
NM_001371279.1(REEP1):c.33-2A>G rs1574077569
NM_001371279.1(REEP1):c.33-8C>A
NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter) rs121918263
NM_001371279.1(REEP1):c.340A>G (p.Ser114Gly)
NM_001371279.1(REEP1):c.340_347del (p.Ser114fs) rs1676310949
NM_001371279.1(REEP1):c.341G>A (p.Ser114Asn) rs1676311757
NM_001371279.1(REEP1):c.345C>A (p.Tyr115Ter) rs138656911
NM_001371279.1(REEP1):c.345C>G (p.Tyr115Ter) rs138656911
NM_001371279.1(REEP1):c.346G>A (p.Asp116Asn)
NM_001371279.1(REEP1):c.353T>G (p.Leu118Arg) rs1553461156
NM_001371279.1(REEP1):c.355G>T (p.Val119Leu) rs1676309660
NM_001371279.1(REEP1):c.361T>C (p.Phe121Leu)
NM_001371279.1(REEP1):c.373G>A (p.Gly125Ser) rs1375850288
NM_001371279.1(REEP1):c.387C>T (p.Ala129=)
NM_001371279.1(REEP1):c.392C>T (p.Thr131Ile) rs1553461131
NM_001371279.1(REEP1):c.395C>T (p.Ala132Val)
NM_001371279.1(REEP1):c.411T>G (p.Ala137=)
NM_001371279.1(REEP1):c.415A>T (p.Lys139Ter) rs786204081
NM_001371279.1(REEP1):c.417+1G>A rs2104223296
NM_001371279.1(REEP1):c.417+1G>C rs2104223296
NM_001371279.1(REEP1):c.417+1del
NM_001371279.1(REEP1):c.417+9C>A
NM_001371279.1(REEP1):c.417G>C (p.Lys139Asn)
NM_001371279.1(REEP1):c.418-15C>T
NM_001371279.1(REEP1):c.418-17T>C
NM_001371279.1(REEP1):c.418-2A>C
NM_001371279.1(REEP1):c.418-3C>T rs762291002
NM_001371279.1(REEP1):c.424G>C (p.Gly142Arg) rs864622642
NM_001371279.1(REEP1):c.434C>T (p.Ser145Leu)
NM_001371279.1(REEP1):c.437A>G (p.Glu146Gly)
NM_001371279.1(REEP1):c.440G>T (p.Arg147Ile) rs1060503497
NM_001371279.1(REEP1):c.441A>G (p.Arg147=)
NM_001371279.1(REEP1):c.442C>T (p.Leu148=)
NM_001371279.1(REEP1):c.445C>T (p.Arg149Trp) rs771715116
NM_001371279.1(REEP1):c.449G>A (p.Ser150Asn) rs1675102279
NM_001371279.1(REEP1):c.450C>T (p.Ser150=)
NM_001371279.1(REEP1):c.457A>C (p.Met153Leu)
NM_001371279.1(REEP1):c.460C>T (p.Gln154Ter) rs2104054009
NM_001371279.1(REEP1):c.470C>T (p.Thr157Ile)
NM_001371279.1(REEP1):c.473C>T (p.Thr158Ile)
NM_001371279.1(REEP1):c.475A>G (p.Ile159Val)
NM_001371279.1(REEP1):c.478_479del (p.Arg160fs) rs1675100341
NM_001371279.1(REEP1):c.478del (p.Arg160fs) rs1675100502
NM_001371279.1(REEP1):c.490G>A (p.Ala164Thr)
NM_001371279.1(REEP1):c.495del (p.Ala166fs) rs1558875298
NM_001371279.1(REEP1):c.49C>A (p.Leu17Ile) rs1553465460
NM_001371279.1(REEP1):c.4G>A (p.Val2Met) rs898778508
NM_001371279.1(REEP1):c.503C>T (p.Ser168Leu)
NM_001371279.1(REEP1):c.504G>A (p.Ser168=)
NM_001371279.1(REEP1):c.507C>T (p.Gly169=)
NM_001371279.1(REEP1):c.512del (p.Pro171fs) rs387906263
NM_001371279.1(REEP1):c.515C>T (p.Pro172Leu)
NM_001371279.1(REEP1):c.515del (p.Pro172fs) rs1574005451
NM_001371279.1(REEP1):c.518C>G (p.Pro173Arg)
NM_001371279.1(REEP1):c.530G>A (p.Arg177Gln)
NM_001371279.1(REEP1):c.537C>A (p.Ser179Arg) rs201564869
NM_001371279.1(REEP1):c.538_553del (p.Gly180fs) rs1064792986
NM_001371279.1(REEP1):c.540C>T (p.Gly180=) rs1218144193
NM_001371279.1(REEP1):c.542A>C (p.Lys181Thr) rs1039369434
NM_001371279.1(REEP1):c.544C>T (p.His182Tyr)
NM_001371279.1(REEP1):c.546C>T (p.His182=)
NM_001371279.1(REEP1):c.560T>C (p.Met187Thr)
NM_001371279.1(REEP1):c.561G>A (p.Met187Ile) rs1378939892
NM_001371279.1(REEP1):c.567del (p.Ser190fs) rs2104051526
NM_001371279.1(REEP1):c.56C>G (p.Pro19Arg) rs1060503496
NM_001371279.1(REEP1):c.570T>C (p.Ser190=) rs1454076238
NM_001371279.1(REEP1):c.57del (p.Ala20fs)
NM_001371279.1(REEP1):c.582C>A (p.Ser194Arg) rs540194528
NM_001371279.1(REEP1):c.583G>A (p.Ala195Thr) rs757800031
NM_001371279.1(REEP1):c.583G>T (p.Ala195Ser) rs757800031
NM_001371279.1(REEP1):c.594A>T (p.Ser198=)
NM_001371279.1(REEP1):c.595+4G>A
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) rs121918262
NM_001371279.1(REEP1):c.59C>T (p.Ala20Val) rs121918262
NM_001371279.1(REEP1):c.60G>A (p.Ala20=) rs186480337
NM_001371279.1(REEP1):c.72C>A (p.Tyr24Ter)
NM_001371279.1(REEP1):c.76G>A (p.Ala26Thr) rs1299952460
NM_001371279.1(REEP1):c.784-18_784-15del rs760605373
NM_001371279.1(REEP1):c.784-20_784-19delinsTG rs2103944805
NM_001371279.1(REEP1):c.784-4C>G
NM_001371279.1(REEP1):c.792T>C (p.Pro264=)
NM_001371279.1(REEP1):c.792T>G (p.Pro264=) rs2103944449
NM_001371279.1(REEP1):c.794G>A (p.Arg265Lys) rs2103944404
NM_001371279.1(REEP1):c.88A>C (p.Lys30Gln) rs1434743601
NM_001371279.1(REEP1):c.94A>T (p.Ile32Phe)
NM_001776.6(ENTPD1):c.1014C>T (p.Cys338=)
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.1075-5T>C
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.1341C>T (p.Asp447=)
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.1431T>C (p.Tyr477=)
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.16+9A>C
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.17-7G>A
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.357C>T (p.Ser119=)
NM_001776.6(ENTPD1):c.375C>T (p.Pro125=)
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.519G>A (p.Glu173=)
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.608C>T (p.Thr203Ile)
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.813+19del
NM_001776.6(ENTPD1):c.813+2C>G
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.879A>G (p.Val293=)
NM_001776.6(ENTPD1):c.915T>C (p.Phe305=)
NM_001776.6(ENTPD1):c.926T>C (p.Leu309Pro)
NM_001776.6(ENTPD1):c.939G>A (p.Gln313=)
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.1231+9C>A
NM_002361.4(MAG):c.1232-18C>A
NM_002361.4(MAG):c.1232-3_1240del
NM_002361.4(MAG):c.1233C>T (p.Phe411=)
NM_002361.4(MAG):c.1239T>G (p.Pro413=)
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.1341A>G (p.Pro447=)
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.1386C>T (p.Tyr462=)
NM_002361.4(MAG):c.1387T>G (p.Ser463Ala)
NM_002361.4(MAG):c.1388C>T (p.Ser463Leu)
NM_002361.4(MAG):c.1429C>T (p.Arg477Trp)
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.150G>C (p.Leu50=)
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.1616+1G>A
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.1717-6T>A
NM_002361.4(MAG):c.1717-8C>T
NM_002361.4(MAG):c.1727G>A (p.Arg576His)
NM_002361.4(MAG):c.1755C>A (p.Gly585=)
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.321C>T (p.Val107=)
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.372C>T (p.Tyr124=)
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.416-12C>T
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.558G>T (p.Leu186=)
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.711G>C (p.Lys237Asn)
NM_002361.4(MAG):c.712+15GGGCG[3]
NM_002361.4(MAG):c.712+15GGGCG[4]
NM_002361.4(MAG):c.712+18C>T
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_002361.4(MAG):c.971-4G>C
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.1050T>C (p.Gly350=)
NM_002860.4(ALDH18A1):c.1053C>G (p.Thr351=)
NM_002860.4(ALDH18A1):c.1071G>A (p.Lys357=)
NM_002860.4(ALDH18A1):c.1072C>A (p.Pro358Thr)
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+15A>G
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.1079-8T>G
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.1147G>C (p.Glu383Gln)
NM_002860.4(ALDH18A1):c.1150C>G (p.Gln384Glu)
NM_002860.4(ALDH18A1):c.1151A>G (p.Gln384Arg)
NM_002860.4(ALDH18A1):c.1152+12A>C
NM_002860.4(ALDH18A1):c.1152+1G>A
NM_002860.4(ALDH18A1):c.1152+4A>G
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.1169A>G (p.His390Arg) rs2097858992
NM_002860.4(ALDH18A1):c.1172A>T (p.His391Leu) rs774081826
NM_002860.4(ALDH18A1):c.1177G>A (p.Ala393Thr)
NM_002860.4(ALDH18A1):c.117T>C (p.His39=)
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.1233G>A (p.Leu411=)
NM_002860.4(ALDH18A1):c.1236G>C (p.Glu412Asp)
NM_002860.4(ALDH18A1):c.1246+15A>G
NM_002860.4(ALDH18A1):c.1247-12A>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.1254T>C (p.Leu418=)
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.1305C>T (p.Ser435=)
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>C (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.1457G>A (p.Cys486Tyr)
NM_002860.4(ALDH18A1):c.1463C>T (p.Pro488Leu)
NM_002860.4(ALDH18A1):c.1467+12C>T
NM_002860.4(ALDH18A1):c.1467+18G>A
NM_002860.4(ALDH18A1):c.1468-19C>T
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.1509C>A (p.Leu503=)
NM_002860.4(ALDH18A1):c.1514G>A (p.Gly505Glu)
NM_002860.4(ALDH18A1):c.1517G>T (p.Gly506Val)
NM_002860.4(ALDH18A1):c.1521_1522delinsTA (p.Lys507_Glu508delinsAsnLys)
NM_002860.4(ALDH18A1):c.1524G>A (p.Glu508=)
NM_002860.4(ALDH18A1):c.1537A>T (p.Asn513Tyr)
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.1590G>A (p.Lys530=)
NM_002860.4(ALDH18A1):c.1594G>A (p.Ala532Thr)
NM_002860.4(ALDH18A1):c.1595C>T (p.Ala532Val)
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.1632T>A (p.Asp544Glu)
NM_002860.4(ALDH18A1):c.1639C>T (p.Arg547Cys)
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.1687C>T (p.Leu563=)
NM_002860.4(ALDH18A1):c.1690G>A (p.Val564Ile) rs2097840471
NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)
NM_002860.4(ALDH18A1):c.16T>C (p.Tyr6His)
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.1739G>A (p.Ser580Asn)
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.1771G>A (p.Glu591Lys)
NM_002860.4(ALDH18A1):c.1773G>T (p.Glu591Asp)
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.1827A>T (p.Pro609=)
NM_002860.4(ALDH18A1):c.1864C>G (p.Arg622Gly)
NM_002860.4(ALDH18A1):c.1875C>A (p.Leu625=)
NM_002860.4(ALDH18A1):c.1894C>A (p.Gln632Lys)
NM_002860.4(ALDH18A1):c.1897A>G (p.Ile633Val)
NM_002860.4(ALDH18A1):c.190C>T (p.Arg64Cys)
NM_002860.4(ALDH18A1):c.1915G>A (p.Val639Met)
NM_002860.4(ALDH18A1):c.1917G>A (p.Val639=)
NM_002860.4(ALDH18A1):c.191G>A (p.Arg64His)
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.1953C>T (p.Ala651=)
NM_002860.4(ALDH18A1):c.1956C>T (p.Ser652=)
NM_002860.4(ALDH18A1):c.1958A>C (p.Tyr653Ser)
NM_002860.4(ALDH18A1):c.195T>C (p.Ser65=)
NM_002860.4(ALDH18A1):c.1985A>G (p.Lys662Arg) rs1250411325
NM_002860.4(ALDH18A1):c.1991T>C (p.Leu664Pro)
NM_002860.4(ALDH18A1):c.1993C>T (p.Arg665Ter)
NM_002860.4(ALDH18A1):c.1994G>A (p.Arg665Gln)
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.2045A>G (p.Gln682Arg)
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.2087C>T (p.Thr696Met)
NM_002860.4(ALDH18A1):c.2088G>A (p.Thr696=)
NM_002860.4(ALDH18A1):c.2090A>T (p.Asp697Val)
NM_002860.4(ALDH18A1):c.2094C>A (p.Val698=)
NM_002860.4(ALDH18A1):c.2094C>T (p.Val698=)
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.2110+12G>A
NM_002860.4(ALDH18A1):c.2110+15G>A
NM_002860.4(ALDH18A1):c.2110+16C>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.2182T>A (p.Ser728Thr)
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>G (p.Thr760Ser)
NM_002860.4(ALDH18A1):c.2279C>T (p.Thr760Ile)
NM_002860.4(ALDH18A1):c.227A>G (p.Lys76Arg)
NM_002860.4(ALDH18A1):c.22T>A (p.Cys8Ser)
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.235A>G (p.Ser79Gly)
NM_002860.4(ALDH18A1):c.2365A>G (p.Ile789Val)
NM_002860.4(ALDH18A1):c.2370T>G (p.Pro790=)
NM_002860.4(ALDH18A1):c.250C>T (p.Arg84Ter)
NM_002860.4(ALDH18A1):c.251G>C (p.Arg84Pro)
NM_002860.4(ALDH18A1):c.254G>A (p.Gly85Glu)
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.300G>A (p.Glu100=)
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.304-8A>G rs371815111
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.376C>T (p.Arg126Cys)
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.408C>T (p.Ser136=)
NM_002860.4(ALDH18A1):c.409G>A (p.Val137Met)
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.448G>A (p.Glu150Lys)
NM_002860.4(ALDH18A1):c.453+13del rs773804418
NM_002860.4(ALDH18A1):c.453+14C>G
NM_002860.4(ALDH18A1):c.454-12G>C
NM_002860.4(ALDH18A1):c.467T>G (p.Leu156Ter)
NM_002860.4(ALDH18A1):c.469G>C (p.Glu157Gln)
NM_002860.4(ALDH18A1):c.475C>A (p.Arg159=)
NM_002860.4(ALDH18A1):c.492C>G (p.Ala164=)
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.526A>G (p.Met176Val)
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.604A>T (p.Asn202Tyr)
NM_002860.4(ALDH18A1):c.618A>G (p.Thr206=)
NM_002860.4(ALDH18A1):c.619C>G (p.Leu207Val)
NM_002860.4(ALDH18A1):c.634A>G (p.Arg212Gly)
NM_002860.4(ALDH18A1):c.642C>T (p.Asn214=) rs1589534526
NM_002860.4(ALDH18A1):c.648C>A (p.Val216=)
NM_002860.4(ALDH18A1):c.64A>G (p.Lys22Glu)
NM_002860.4(ALDH18A1):c.653T>C (p.Ile218Thr)
NM_002860.4(ALDH18A1):c.678C>A (p.Val226=)
NM_002860.4(ALDH18A1):c.680C>G (p.Pro227Arg)
NM_002860.4(ALDH18A1):c.681C>T (p.Pro227=)
NM_002860.4(ALDH18A1):c.684dup (p.Ala229fs)
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.712G>T (p.Val238Leu)
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.718-11C>G
NM_002860.4(ALDH18A1):c.718-14A>G
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.762T>A (p.Ala254=)
NM_002860.4(ALDH18A1):c.763G>T (p.Val255Leu)
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.809-17T>G
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.837T>C (p.Asp279=)
NM_002860.4(ALDH18A1):c.839A>G (p.Asp280Gly)
NM_002860.4(ALDH18A1):c.839A>T (p.Asp280Val) rs981914821
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.88+19T>G
NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys) rs768985400
NM_002860.4(ALDH18A1):c.89-12T>G
NM_002860.4(ALDH18A1):c.89-14T>G
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_002860.4(ALDH18A1):c.994C>T (p.His332Tyr)
NM_003119.3(SPG7):c.1553-?_1779+?del
NM_003119.4(SPG7):c.100C>A (p.Pro34Thr)
NM_003119.4(SPG7):c.1012G>T (p.Gly338Cys)
NM_003119.4(SPG7):c.1013G>A (p.Gly338Asp)
NM_003119.4(SPG7):c.1014C>T (p.Gly338=) rs576575379
NM_003119.4(SPG7):c.1016C>A (p.Ala339Asp)
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1038_1039insAAGCTTGGCGCCAAGGTCCCAAAGGGCGCACTG (p.Leu346_Leu347insLysLeuGlyAlaLysValProLysGlyAlaLeu)
NM_003119.4(SPG7):c.1044C>T (p.Leu348=)
NM_003119.4(SPG7):c.1045_1046delinsAGC (p.Gly349fs) rs1060503425
NM_003119.4(SPG7):c.1047C>A (p.Gly349=)
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr) rs199789849
NM_003119.4(SPG7):c.1048C>G (p.Pro350Ala) rs199789849
NM_003119.4(SPG7):c.1048C>T (p.Pro350Ser) rs199789849
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.1053C>G (p.Pro351=) rs762689331
NM_003119.4(SPG7):c.1053del (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1061G>C (p.Gly354Ala) rs2152403446
NM_003119.4(SPG7):c.1064A>G (p.Lys355Arg)
NM_003119.4(SPG7):c.1083G>C (p.Ala361=) rs114135540
NM_003119.4(SPG7):c.1085T>A (p.Val362Glu) rs532511374
NM_003119.4(SPG7):c.1085T>G (p.Val362Gly)
NM_003119.4(SPG7):c.1116G>A (p.Ala372=)
NM_003119.4(SPG7):c.1116G>C (p.Ala372=)
NM_003119.4(SPG7):c.1120G>A (p.Ala374Thr)
NM_003119.4(SPG7):c.1123G>A (p.Gly375Ser)
NM_003119.4(SPG7):c.1124del (p.Gly375fs) rs2152403519
NM_003119.4(SPG7):c.1135G>A (p.Val379Met) rs766085257
NM_003119.4(SPG7):c.1150+13G>C
NM_003119.4(SPG7):c.1150+9T>A
NM_003119.4(SPG7):c.1151-14C>G
NM_003119.4(SPG7):c.1151-16C>G
NM_003119.4(SPG7):c.1151-18C>T
NM_003119.4(SPG7):c.1151-7C>T
NM_003119.4(SPG7):c.1170del (p.Arg391fs)
NM_003119.4(SPG7):c.1171_1172dup (p.Ser392fs) rs2058358025
NM_003119.4(SPG7):c.1175G>T (p.Ser392Ile)
NM_003119.4(SPG7):c.1181_1183dup (p.Phe394_Lys395insIle)
NM_003119.4(SPG7):c.1193G>A (p.Arg398Gln) rs771782004
NM_003119.4(SPG7):c.1193G>T (p.Arg398Leu) rs771782004
NM_003119.4(SPG7):c.11T>C (p.Leu4Pro)
NM_003119.4(SPG7):c.1217A>G (p.Tyr406Cys)
NM_003119.4(SPG7):c.1219A>C (p.Ile407Leu)
NM_003119.4(SPG7):c.1223A>G (p.Asp408Gly)
NM_003119.4(SPG7):c.1230C>A (p.Ile410=)
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn) rs745444834
NM_003119.4(SPG7):c.1233C>T (p.Asp411=)
NM_003119.4(SPG7):c.1241G>A (p.Gly414Asp)
NM_003119.4(SPG7):c.1242C>T (p.Gly414=)
NM_003119.4(SPG7):c.1248G>A (p.Lys416=)
NM_003119.4(SPG7):c.124C>T (p.Pro42Ser)
NM_003119.4(SPG7):c.1251C>T (p.Arg417=)
NM_003119.4(SPG7):c.1266C>G (p.Ser422=) rs767857665
NM_003119.4(SPG7):c.1296G>A (p.Thr432=)
NM_003119.4(SPG7):c.1305G>A (p.Gln435=) rs559906913
NM_003119.4(SPG7):c.1324+11G>A
NM_003119.4(SPG7):c.1324+15G>A
NM_003119.4(SPG7):c.1324+19C>T
NM_003119.4(SPG7):c.1324+20G>A
NM_003119.4(SPG7):c.1324+2T>G rs1597635592
NM_003119.4(SPG7):c.1324+7G>A
NM_003119.4(SPG7):c.1325-12_1325-11del
NM_003119.4(SPG7):c.132G>A (p.Met44Ile)
NM_003119.4(SPG7):c.132G>T (p.Met44Ile)
NM_003119.4(SPG7):c.1350C>T (p.Ile450=) rs145124867
NM_003119.4(SPG7):c.1358C>T (p.Ala453Val)
NM_003119.4(SPG7):c.1361C>T (p.Ser454Phe)
NM_003119.4(SPG7):c.1363A>C (p.Thr455Pro) rs2152409117
NM_003119.4(SPG7):c.1365G>A (p.Thr455=)
NM_003119.4(SPG7):c.1387G>A (p.Gly463Ser)
NM_003119.4(SPG7):c.1393C>T (p.Leu465=)
NM_003119.4(SPG7):c.1412T>C (p.Leu471Pro)
NM_003119.4(SPG7):c.1418G>A (p.Arg473Gln)
NM_003119.4(SPG7):c.1419G>T (p.Arg473=) rs764199066
NM_003119.4(SPG7):c.1420C>T (p.His474Tyr) rs1567926386
NM_003119.4(SPG7):c.1421A>C (p.His474Pro)
NM_003119.4(SPG7):c.1422C>G (p.His474Gln) rs201482100
NM_003119.4(SPG7):c.1440C>A (p.Pro480=)
NM_003119.4(SPG7):c.1442C>T (p.Thr481Met) rs376713807
NM_003119.4(SPG7):c.1443G>A (p.Thr481=)
NM_003119.4(SPG7):c.1449+6_1449+7del
NM_003119.4(SPG7):c.1450-17T>C
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003119.4(SPG7):c.1453A>G (p.Arg485Gly)
NM_003119.4(SPG7):c.1455G>A (p.Arg485=)
NM_003119.4(SPG7):c.1456C>T (p.Arg486Trp)
NM_003119.4(SPG7):c.1460A>C (p.Glu487Ala)
NM_003119.4(SPG7):c.146C>T (p.Pro49Leu)
NM_003119.4(SPG7):c.1477dup (p.Leu493fs)
NM_003119.4(SPG7):c.1486C>G (p.Leu496Val)
NM_003119.4(SPG7):c.1486C>T (p.Leu496=)
NM_003119.4(SPG7):c.1497C>A (p.Thr499=)
NM_003119.4(SPG7):c.1552+15C>T
NM_003119.4(SPG7):c.1552+4C>T
NM_003119.4(SPG7):c.1552+4_1552+11dup
NM_003119.4(SPG7):c.1553-4A>G rs113450752
NM_003119.4(SPG7):c.1553-4A>T
NM_003119.4(SPG7):c.1553-5G>C rs1463414333
NM_003119.4(SPG7):c.1553-8_1553-7del rs567981282
NM_003119.4(SPG7):c.1555G>C (p.Ala519Pro) rs1423182372
NM_003119.4(SPG7):c.1563C>G (p.Ile521Met)
NM_003119.4(SPG7):c.1563C>T (p.Ile521=)
NM_003119.4(SPG7):c.1568A>T (p.Asn523Ile) rs974972989
NM_003119.4(SPG7):c.1584T>C (p.Ala528=)
NM_003119.4(SPG7):c.158C>G (p.Ala53Gly)
NM_003119.4(SPG7):c.1595C>G (p.Ala532Gly)
NM_003119.4(SPG7):c.1595C>T (p.Ala532Val)
NM_003119.4(SPG7):c.1616C>G (p.Ser539Cys)
NM_003119.4(SPG7):c.1617del (p.Val540fs) rs762795756
NM_003119.4(SPG7):c.161A>T (p.Glu54Val) rs750617337
NM_003119.4(SPG7):c.1622A>G (p.His541Arg)
NM_003119.4(SPG7):c.1628_1629del (p.Leu543fs) rs766155407
NM_003119.4(SPG7):c.1641C>T (p.Tyr547=)
NM_003119.4(SPG7):c.1642G>A (p.Ala548Thr)
NM_003119.4(SPG7):c.1645G>A (p.Val549Met)
NM_003119.4(SPG7):c.1647G>A (p.Val549=) rs2152410319
NM_003119.4(SPG7):c.1651C>T (p.Arg551Cys)
NM_003119.4(SPG7):c.1652G>C (p.Arg551Pro)
NM_003119.4(SPG7):c.1663+12G>A
NM_003119.4(SPG7):c.1664-14C>T
NM_003119.4(SPG7):c.1664-17C>T
NM_003119.4(SPG7):c.1664-7C>A
NM_003119.4(SPG7):c.1668T>G (p.Thr556=)
NM_003119.4(SPG7):c.167G>A (p.Gly56Glu) rs11559074
NM_003119.4(SPG7):c.1680C>T (p.Ser560=)
NM_003119.4(SPG7):c.1686C>G (p.Ile562Met)
NM_003119.4(SPG7):c.1699G>C (p.Glu567Gln)
NM_003119.4(SPG7):c.16C>T (p.Leu6=)
NM_003119.4(SPG7):c.1701A>T (p.Glu567Asp)
NM_003119.4(SPG7):c.1705A>C (p.Lys569Gln)
NM_003119.4(SPG7):c.1711G>T (p.Val571Phe)
NM_003119.4(SPG7):c.1712T>C (p.Val571Ala) rs2152411078
NM_003119.4(SPG7):c.1716G>A (p.Ala572=)
NM_003119.4(SPG7):c.1720C>T (p.His574Tyr) rs2058623878
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1728G>C (p.Ser576=)
NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala) rs1329063851
NM_003119.4(SPG7):c.1737C>G (p.Ala579=) rs2152411087
NM_003119.4(SPG7):c.1740G>T (p.Leu580Phe) rs115658934
NM_003119.4(SPG7):c.1756G>C (p.Glu586Gln) rs1035143808
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met) rs778387199
NM_003119.4(SPG7):c.1768G>T (p.Ala590Ser)
NM_003119.4(SPG7):c.1769C>A (p.Ala590Asp)
NM_003119.4(SPG7):c.176C>T (p.Ala59Val)
NM_003119.4(SPG7):c.1773G>C (p.Val591=)
NM_003119.4(SPG7):c.1777A>T (p.Lys593Ter) rs1463225651
NM_003119.4(SPG7):c.1779+10G>A
NM_003119.4(SPG7):c.1779+12C>A
NM_003119.4(SPG7):c.1779+5G>T rs1567931957
NM_003119.4(SPG7):c.1780-16_1780-14del rs863224213
NM_003119.4(SPG7):c.1796G>T (p.Arg599Leu) rs149749852
NM_003119.4(SPG7):c.1797G>T (p.Arg599=)
NM_003119.4(SPG7):c.1803C>T (p.Asn601=)
NM_003119.4(SPG7):c.1804G>A (p.Ala602Thr)
NM_003119.4(SPG7):c.1806C>T (p.Ala602=)
NM_003119.4(SPG7):c.183+12C>A
NM_003119.4(SPG7):c.183+20G>T
NM_003119.4(SPG7):c.183+22dup
NM_003119.4(SPG7):c.184-17T>C
NM_003119.4(SPG7):c.184-19G>T
NM_003119.4(SPG7):c.184-19del
NM_003119.4(SPG7):c.1844A>G (p.His615Arg) rs2152411864
NM_003119.4(SPG7):c.184A>C (p.Ser62Arg)
NM_003119.4(SPG7):c.1851C>G (p.Phe617Leu)
NM_003119.4(SPG7):c.1858G>C (p.Glu620Gln)
NM_003119.4(SPG7):c.1873C>T (p.Arg625Trp)
NM_003119.4(SPG7):c.1887C>G (p.Ala629=)
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg) rs368541637
NM_003119.4(SPG7):c.1897C>T (p.Arg633Trp) rs1350253332
NM_003119.4(SPG7):c.1898G>A (p.Arg633Gln)
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.1905G>T (p.Ser635=)
NM_003119.4(SPG7):c.1907A>C (p.Glu636Ala)
NM_003119.4(SPG7):c.1923C>T (p.Asn641=)
NM_003119.4(SPG7):c.1927G>A (p.Val643Ile) rs778965259
NM_003119.4(SPG7):c.192A>G (p.Gln64=)
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.1936+16G>A
NM_003119.4(SPG7):c.1936+17C>T
NM_003119.4(SPG7):c.1936+2T>A rs1567933730
NM_003119.4(SPG7):c.1936+8G>A
NM_003119.4(SPG7):c.1936+9C>T
NM_003119.4(SPG7):c.1937-10C>T
NM_003119.4(SPG7):c.1937-11C>T
NM_003119.4(SPG7):c.1937-16C>T
NM_003119.4(SPG7):c.1939del rs1567934181
NM_003119.4(SPG7):c.193T>C (p.Leu65=)
NM_003119.4(SPG7):c.1940C>T (p.Ala647Val) rs776380988
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro) rs373143136
NM_003119.4(SPG7):c.1969A>G (p.Ile657Val)
NM_003119.4(SPG7):c.1974C>G (p.Ala658=)
NM_003119.4(SPG7):c.1991A>C (p.Gln664Pro)
NM_003119.4(SPG7):c.19C>T (p.Leu7=)
NM_003119.4(SPG7):c.2001G>A (p.Met667Ile)
NM_003119.4(SPG7):c.2013C>T (p.Ile671=)
NM_003119.4(SPG7):c.2021T>C (p.Ile674Thr) rs2152412186
NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu) rs72547553
NM_003119.4(SPG7):c.2027T>C (p.Phe676Ser) rs2058661946
NM_003119.4(SPG7):c.2047C>T (p.Leu683Phe) rs769512676
NM_003119.4(SPG7):c.2059G>A (p.Gly687Arg)
NM_003119.4(SPG7):c.2059_2076del (p.Gly687_Ser692del) rs1597665192
NM_003119.4(SPG7):c.2065C>T (p.Arg689Cys)
NM_003119.4(SPG7):c.2066G>A (p.Arg689His) rs148199060
NM_003119.4(SPG7):c.2070del (p.Phe691fs) rs1555617559
NM_003119.4(SPG7):c.2102A>C (p.His701Pro)
NM_003119.4(SPG7):c.2102A>G (p.His701Arg) rs372180825
NM_003119.4(SPG7):c.2102A>T (p.His701Leu)
NM_003119.4(SPG7):c.2103+2_2103+20del rs1743896594
NM_003119.4(SPG7):c.2104-12C>G
NM_003119.4(SPG7):c.2104-1G>C
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) rs748255454
NM_003119.4(SPG7):c.2123C>T (p.Ala708Val)
NM_003119.4(SPG7):c.2128G>A (p.Ala710Thr) rs2152412371
NM_003119.4(SPG7):c.2131T>G (p.Tyr711Asp) rs2058667749
NM_003119.4(SPG7):c.2140_2141del (p.Thr714fs)
NM_003119.4(SPG7):c.2142C>T (p.Thr714=) rs201878285
NM_003119.4(SPG7):c.2143G>C (p.Glu715Gln)
NM_003119.4(SPG7):c.2149G>A (p.Val717Met)
NM_003119.4(SPG7):c.2173T>C (p.Leu725=)
NM_003119.4(SPG7):c.2176C>G (p.Gln726Glu)
NM_003119.4(SPG7):c.2182-4C>A
NM_003119.4(SPG7):c.2192C>T (p.Ala731Val)
NM_003119.4(SPG7):c.2197C>A (p.Leu733Met)
NM_003119.4(SPG7):c.2216dup (p.Asn739fs) rs763126378
NM_003119.4(SPG7):c.2218T>C (p.Tyr740His)
NM_003119.4(SPG7):c.2219A>G (p.Tyr740Cys)
NM_003119.4(SPG7):c.2240T>C (p.Ile747Thr)
NM_003119.4(SPG7):c.2248C>T (p.Pro750Ser)
NM_003119.4(SPG7):c.2252C>A (p.Pro751His)
NM_003119.4(SPG7):c.2261C>T (p.Pro754Leu) rs758721226
NM_003119.4(SPG7):c.2272A>G (p.Ile758Val) rs1597668767
NM_003119.4(SPG7):c.2279C>T (p.Pro760Leu)
NM_003119.4(SPG7):c.2281C>T (p.Gln761Ter)
NM_003119.4(SPG7):c.2290A>G (p.Ile764Val) rs942740771
NM_003119.4(SPG7):c.2293G>C (p.Asp765His)
NM_003119.4(SPG7):c.2296G>A (p.Ala766Thr)
NM_003119.4(SPG7):c.2316C>G (p.Asp772Glu)
NM_003119.4(SPG7):c.2320G>A (p.Gly774Ser)
NM_003119.4(SPG7):c.2322C>T (p.Gly774=)
NM_003119.4(SPG7):c.2326G>T (p.Glu776Ter)
NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del) rs527363502
NM_003119.4(SPG7):c.2334C>T (p.Thr778=)
NM_003119.4(SPG7):c.2348A>G (p.Gln783Arg)
NM_003119.4(SPG7):c.2365G>A (p.Glu789Lys) rs372033226
NM_003119.4(SPG7):c.2365G>C (p.Glu789Gln)
NM_003119.4(SPG7):c.2365G>T (p.Glu789Ter) rs372033226
NM_003119.4(SPG7):c.2372C>G (p.Pro791Arg)
NM_003119.4(SPG7):c.2387A>G (p.Ter796Trp)
NM_003119.4(SPG7):c.244C>T (p.Gln82Ter) rs146115797
NM_003119.4(SPG7):c.246A>G (p.Gln82=)
NM_003119.4(SPG7):c.248A>G (p.His83Arg)
NM_003119.4(SPG7):c.264A>C (p.Pro88=)
NM_003119.4(SPG7):c.270A>C (p.Arg90Ser)
NM_003119.4(SPG7):c.273_274del (p.Trp92fs)
NM_003119.4(SPG7):c.279A>C (p.Gln93His)
NM_003119.4(SPG7):c.286+1G>T rs1452259575
NM_003119.4(SPG7):c.286+3A>G rs201056405
NM_003119.4(SPG7):c.286+4T>A
NM_003119.4(SPG7):c.287-12T>C
NM_003119.4(SPG7):c.288T>G (p.Gly96=) rs2058041135
NM_003119.4(SPG7):c.28G>A (p.Ala10Thr)
NM_003119.4(SPG7):c.28G>C (p.Ala10Pro)
NM_003119.4(SPG7):c.28G>T (p.Ala10Ser) rs577872969
NM_003119.4(SPG7):c.297C>G (p.Phe99Leu)
NM_003119.4(SPG7):c.2T>A (p.Met1Lys) rs1332265538
NM_003119.4(SPG7):c.30C>T (p.Ala10=)
NM_003119.4(SPG7):c.335_336insTA (p.Glu112fs)
NM_003119.4(SPG7):c.339G>A (p.Lys113=)
NM_003119.4(SPG7):c.347C>G (p.Ser116Trp)
NM_003119.4(SPG7):c.353G>A (p.Gly118Glu)
NM_003119.4(SPG7):c.355A>C (p.Lys119Gln)
NM_003119.4(SPG7):c.357G>A (p.Lys119=) rs1209945253
NM_003119.4(SPG7):c.360G>A (p.Ala120=)
NM_003119.4(SPG7):c.360G>C (p.Ala120=) rs376376359
NM_003119.4(SPG7):c.372C>T (p.Asp124=)
NM_003119.4(SPG7):c.375A>C (p.Glu125Asp)
NM_003119.4(SPG7):c.376+12T>C
NM_003119.4(SPG7):c.376+16G>A
NM_003119.4(SPG7):c.376+16_376+18del
NM_003119.4(SPG7):c.376+18T>A rs2152394850
NM_003119.4(SPG7):c.377-6G>A rs1555611445
NM_003119.4(SPG7):c.377-7G>A
NM_003119.4(SPG7):c.37C>G (p.Arg13Gly) rs923197967
NM_003119.4(SPG7):c.37C>T (p.Arg13Trp)
NM_003119.4(SPG7):c.389G>A (p.Arg130His)
NM_003119.4(SPG7):c.395A>C (p.Glu132Ala)
NM_003119.4(SPG7):c.399G>A (p.Arg133=)
NM_003119.4(SPG7):c.402C>T (p.Asp134=)
NM_003119.4(SPG7):c.403G>T (p.Asp135Tyr)
NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser) rs377268309
NM_003119.4(SPG7):c.425T>C (p.Leu142Pro)
NM_003119.4(SPG7):c.438G>A (p.Leu146=)
NM_003119.4(SPG7):c.439G>A (p.Val147Ile)
NM_003119.4(SPG7):c.450T>C (p.Val150=)
NM_003119.4(SPG7):c.463C>A (p.Leu155Met)
NM_003119.4(SPG7):c.466_468dup (p.Asn156_Ala157insAsn)
NM_003119.4(SPG7):c.473_474del (p.Leu158fs) rs879253798
NM_003119.4(SPG7):c.480C>G (p.Thr160=)
NM_003119.4(SPG7):c.495T>C (p.Ile165=)
NM_003119.4(SPG7):c.495T>G (p.Ile165Met)
NM_003119.4(SPG7):c.505G>A (p.Asp169Asn)
NM_003119.4(SPG7):c.50C>G (p.Pro17Arg) rs956304326
NM_003119.4(SPG7):c.50C>T (p.Pro17Leu)
NM_003119.4(SPG7):c.52G>A (p.Gly18Ser)
NM_003119.4(SPG7):c.538G>A (p.Val180Met)
NM_003119.4(SPG7):c.544C>T (p.Arg182Cys)
NM_003119.4(SPG7):c.558G>C (p.Val186=) rs754129188
NM_003119.4(SPG7):c.560C>T (p.Pro187Leu) rs2152399546
NM_003119.4(SPG7):c.561T>C (p.Pro187=)
NM_003119.4(SPG7):c.573G>A (p.Val191=)
NM_003119.4(SPG7):c.596del (p.Gly199fs) rs752843742
NM_003119.4(SPG7):c.598G>A (p.Ala200Thr)
NM_003119.4(SPG7):c.5C>T (p.Ala2Val)
NM_003119.4(SPG7):c.618+11_618+68del rs1555611542
NM_003119.4(SPG7):c.618+14_618+36del
NM_003119.4(SPG7):c.618+9G>C
NM_003119.4(SPG7):c.619-10T>C
NM_003119.4(SPG7):c.619-20C>G
NM_003119.4(SPG7):c.619-3C>G rs199740629
NM_003119.4(SPG7):c.620G>A (p.Arg207Gln)
NM_003119.4(SPG7):c.627C>T (p.Ala209=)
NM_003119.4(SPG7):c.630G>A (p.Leu210=)
NM_003119.4(SPG7):c.657T>C (p.Ile219=)
NM_003119.4(SPG7):c.663G>C (p.Lys221Asn)
NM_003119.4(SPG7):c.672G>A (p.Glu224=)
NM_003119.4(SPG7):c.683C>G (p.Ala228Gly)
NM_003119.4(SPG7):c.694G>C (p.Glu232Gln)
NM_003119.4(SPG7):c.696G>T (p.Glu232Asp)
NM_003119.4(SPG7):c.697C>T (p.Leu233=) rs751353500
NM_003119.4(SPG7):c.705C>T (p.Ile235=) rs115244515
NM_003119.4(SPG7):c.711del (p.Lys238fs) rs2152400490
NM_003119.4(SPG7):c.724C>A (p.Pro242Thr)
NM_003119.4(SPG7):c.730T>G (p.Ser244Ala)
NM_003119.4(SPG7):c.732C>G (p.Ser244=)
NM_003119.4(SPG7):c.740G>A (p.Arg247Gln)
NM_003119.4(SPG7):c.749del (p.Phe250fs) rs1355240257
NM_003119.4(SPG7):c.750C>T (p.Phe250=)
NM_003119.4(SPG7):c.758+14A>G
NM_003119.4(SPG7):c.758+4T>C rs2058261955
NM_003119.4(SPG7):c.759-11_759-8del rs758385553
NM_003119.4(SPG7):c.759-11del
NM_003119.4(SPG7):c.759-12_759-11del rs779395474
NM_003119.4(SPG7):c.759-15T>G
NM_003119.4(SPG7):c.759-18CT[2]
NM_003119.4(SPG7):c.759-20G>C
NM_003119.4(SPG7):c.759-5G>A
NM_003119.4(SPG7):c.762C>T (p.Ala254=)
NM_003119.4(SPG7):c.763C>T (p.Leu255=) rs2058311848
NM_003119.4(SPG7):c.764T>A (p.Leu255Gln) rs2058311875
NM_003119.4(SPG7):c.773_774del (p.Val258fs) rs768136171
NM_003119.4(SPG7):c.784G>C (p.Ala262Pro) rs2152402052
NM_003119.4(SPG7):c.78C>A (p.Gly26=)
NM_003119.4(SPG7):c.792C>T (p.Gly264=)
NM_003119.4(SPG7):c.80C>A (p.Pro27Gln)
NM_003119.4(SPG7):c.818G>A (p.Arg273His) rs770339981
NM_003119.4(SPG7):c.825C>T (p.Ala275=)
NM_003119.4(SPG7):c.826G>A (p.Gly276Arg)
NM_003119.4(SPG7):c.829A>T (p.Met277Leu) rs909738481
NM_003119.4(SPG7):c.847G>A (p.Gly283Arg) rs2058313221
NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs) rs768595656
NM_003119.4(SPG7):c.861+10G>A
NM_003119.4(SPG7):c.861+17A>G
NM_003119.4(SPG7):c.861+18G>C
NM_003119.4(SPG7):c.861+18G>T
NM_003119.4(SPG7):c.861+19A>G rs2152402127
NM_003119.4(SPG7):c.861+1G>T rs1412575396
NM_003119.4(SPG7):c.861+20G>C
NM_003119.4(SPG7):c.861+6T>C rs765178985
NM_003119.4(SPG7):c.861T>C (p.Phe287=)
NM_003119.4(SPG7):c.861del (p.Phe287fs) rs797046003
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003119.4(SPG7):c.862-18T>G
NM_003119.4(SPG7):c.86G>A (p.Trp29Ter) rs1314660313
NM_003119.4(SPG7):c.872A>G (p.Lys291Arg)
NM_003119.4(SPG7):c.90T>G (p.Ser30Arg)
NM_003119.4(SPG7):c.914G>C (p.Gly305Ala)
NM_003119.4(SPG7):c.931G>A (p.Val311Met)
NM_003119.4(SPG7):c.932T>A (p.Val311Glu) rs1060503429
NM_003119.4(SPG7):c.933G>C (p.Val311=) rs1157953850
NM_003119.4(SPG7):c.934dup (p.Ala312fs) rs2058330715
NM_003119.4(SPG7):c.942G>C (p.Met314Ile)
NM_003119.4(SPG7):c.943C>T (p.His315Tyr)
NM_003119.4(SPG7):c.946G>A (p.Glu316Lys)
NM_003119.4(SPG7):c.947A>G (p.Glu316Gly)
NM_003119.4(SPG7):c.950C>T (p.Ala317Val)
NM_003119.4(SPG7):c.951C>A (p.Ala317=)
NM_003119.4(SPG7):c.958G>T (p.Glu320Ter)
NM_003119.4(SPG7):c.960del (p.Val321fs)
NM_003119.4(SPG7):c.964C>T (p.Arg322Cys) rs201096554
NM_003119.4(SPG7):c.967G>A (p.Glu323Lys)
NM_003119.4(SPG7):c.970T>C (p.Phe324Leu)
NM_003119.4(SPG7):c.971T>C (p.Phe324Ser) rs2152402791
NM_003119.4(SPG7):c.976_987+3del rs878854606
NM_003119.4(SPG7):c.983T>C (p.Leu328Pro) rs1555612612
NM_003119.4(SPG7):c.987+11C>T
NM_003119.4(SPG7):c.987+16G>T
NM_003119.4(SPG7):c.987+5A>C rs4785691
NM_003119.4(SPG7):c.987+5A>G rs4785691
NM_003119.4(SPG7):c.988-12G>C
NM_003119.4(SPG7):c.988-17T>C
NM_003119.4(SPG7):c.99C>G (p.Phe33Leu) rs1331243813
NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup) rs781285980
NM_003119.4(SPG7):c.9GCT[8] (p.Leu8_Arg9insLeuLeuLeu)
NM_004722.4(AP4M1):c.1002C>G (p.Leu334=) rs140843407
NM_004722.4(AP4M1):c.1015G>A (p.Gly339Arg)
NM_004722.4(AP4M1):c.1025+18C>G
NM_004722.4(AP4M1):c.1025+20A>G
NM_004722.4(AP4M1):c.1025+6T>G
NM_004722.4(AP4M1):c.1026-10C>G rs746394766
NM_004722.4(AP4M1):c.1047C>T (p.Ser349=)
NM_004722.4(AP4M1):c.1058A>G (p.Lys353Arg)
NM_004722.4(AP4M1):c.1075G>A (p.Gly359Arg)
NM_004722.4(AP4M1):c.1084C>T (p.Arg362Cys)
NM_004722.4(AP4M1):c.1085G>A (p.Arg362His)
NM_004722.4(AP4M1):c.1137+16C>T rs1035762525
NM_004722.4(AP4M1):c.1137+6C>T
NM_004722.4(AP4M1):c.1138-15C>T
NM_004722.4(AP4M1):c.1138-17G>T
NM_004722.4(AP4M1):c.1138-8C>G rs773499417
NM_004722.4(AP4M1):c.113C>T (p.Thr38Met)
NM_004722.4(AP4M1):c.1143C>T (p.Asp381=)
NM_004722.4(AP4M1):c.1167C>T (p.Pro389=)
NM_004722.4(AP4M1):c.1174G>T (p.Gly392Trp)
NM_004722.4(AP4M1):c.1176G>A (p.Gly392=)
NM_004722.4(AP4M1):c.1183_1196del (p.Thr395fs)
NM_004722.4(AP4M1):c.1188G>A (p.Ser396=)
NM_004722.4(AP4M1):c.1195C>T (p.Pro399Ser) rs773269627
NM_004722.4(AP4M1):c.1203G>A (p.Gly401=)
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu) rs760907496
NM_004722.4(AP4M1):c.1227C>T (p.Phe409=)
NM_004722.4(AP4M1):c.1237C>G (p.Arg413Gly) rs778562405
NM_004722.4(AP4M1):c.1237C>T (p.Arg413Trp)
NM_004722.4(AP4M1):c.1238G>A (p.Arg413Gln) rs757999633
NM_004722.4(AP4M1):c.1238G>T (p.Arg413Leu) rs757999633
NM_004722.4(AP4M1):c.1242C>A (p.His414Gln)
NM_004722.4(AP4M1):c.1259A>T (p.Gln420Leu)
NM_004722.4(AP4M1):c.1265G>A (p.Arg422Gln) rs150135687
NM_004722.4(AP4M1):c.1284C>A (p.Phe428Leu) rs1443950530
NM_004722.4(AP4M1):c.1287G>A (p.Arg429=)
NM_004722.4(AP4M1):c.12A>T (p.Gln4His)
NM_004722.4(AP4M1):c.1308C>T (p.Pro436=)
NM_004722.4(AP4M1):c.1311C>G (p.His437Gln)
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_004722.4(AP4M1):c.1322G>A (p.Arg441Gln)
NM_004722.4(AP4M1):c.1336A>G (p.Ser446Gly)
NM_004722.4(AP4M1):c.1338C>T (p.Ser446=)
NM_004722.4(AP4M1):c.1350C>T (p.Val450=)
NM_004722.4(AP4M1):c.1354C>T (p.Arg452Trp)
NM_004722.4(AP4M1):c.1355G>A (p.Arg452Gln)
NM_004722.4(AP4M1):c.147+10G>A rs1584505112
NM_004722.4(AP4M1):c.147+12C>T
NM_004722.4(AP4M1):c.147+16_147+22dup
NM_004722.4(AP4M1):c.147+18dup
NM_004722.4(AP4M1):c.148-10T>C
NM_004722.4(AP4M1):c.148-11C>T
NM_004722.4(AP4M1):c.148-18T>C
NM_004722.4(AP4M1):c.161G>A (p.Arg54His)
NM_004722.4(AP4M1):c.169A>G (p.Ile57Val)
NM_004722.4(AP4M1):c.173A>G (p.His58Arg)
NM_004722.4(AP4M1):c.192C>G (p.Leu64=)
NM_004722.4(AP4M1):c.196T>C (p.Leu66=)
NM_004722.4(AP4M1):c.218dup (p.Asn73fs) rs1321353475
NM_004722.4(AP4M1):c.219C>T (p.Asn73=)
NM_004722.4(AP4M1):c.220G>A (p.Val74Ile) rs377178447
NM_004722.4(AP4M1):c.226C>T (p.Pro76Ser) rs1796159168
NM_004722.4(AP4M1):c.238C>T (p.Leu80=)
NM_004722.4(AP4M1):c.244C>G (p.Leu82Val)
NM_004722.4(AP4M1):c.254+14G>A
NM_004722.4(AP4M1):c.254+15del
NM_004722.4(AP4M1):c.254+17T>C
NM_004722.4(AP4M1):c.254+20G>A
NM_004722.4(AP4M1):c.255-10G>A
NM_004722.4(AP4M1):c.255-12G>A
NM_004722.4(AP4M1):c.255-12G>C
NM_004722.4(AP4M1):c.289C>G (p.Leu97Val)
NM_004722.4(AP4M1):c.294C>T (p.Gly98=)
NM_004722.4(AP4M1):c.30C>T (p.Ser10=) rs539589967
NM_004722.4(AP4M1):c.310C>T (p.Arg104Cys)
NM_004722.4(AP4M1):c.32del (p.Lys11fs) rs797045249
NM_004722.4(AP4M1):c.331G>A (p.Glu111Lys)
NM_004722.4(AP4M1):c.331G>C (p.Glu111Gln)
NM_004722.4(AP4M1):c.336C>T (p.Leu112=)
NM_004722.4(AP4M1):c.336_338del (p.Leu113del) rs2116630200
NM_004722.4(AP4M1):c.342T>G (p.Asp114Glu)
NM_004722.4(AP4M1):c.351+17C>T
NM_004722.4(AP4M1):c.351+19C>T
NM_004722.4(AP4M1):c.351+19del
NM_004722.4(AP4M1):c.352-18_352-17dup
NM_004722.4(AP4M1):c.360C>T (p.Gly120=) rs778147767
NM_004722.4(AP4M1):c.376T>C (p.Ser126Pro) rs2116635737
NM_004722.4(AP4M1):c.381G>A (p.Thr127=)
NM_004722.4(AP4M1):c.393G>A (p.Arg131=)
NM_004722.4(AP4M1):c.403C>T (p.Gln135Ter)
NM_004722.4(AP4M1):c.452G>A (p.Ser151Asn) rs1028824532
NM_004722.4(AP4M1):c.454G>A (p.Val152Ile)
NM_004722.4(AP4M1):c.45C>G (p.Leu15=)
NM_004722.4(AP4M1):c.45C>T (p.Leu15=)
NM_004722.4(AP4M1):c.462+15A>G
NM_004722.4(AP4M1):c.462+20_462+22del
NM_004722.4(AP4M1):c.463-15T>C
NM_004722.4(AP4M1):c.471T>C (p.Ala157=)
NM_004722.4(AP4M1):c.476C>T (p.Thr159Ile)
NM_004722.4(AP4M1):c.519C>T (p.Pro173=) rs551112932
NM_004722.4(AP4M1):c.528C>T (p.Ser176=)
NM_004722.4(AP4M1):c.52_58+6del rs1350685858
NM_004722.4(AP4M1):c.544-11C>T
NM_004722.4(AP4M1):c.544-13C>T rs2116643223
NM_004722.4(AP4M1):c.544-16TC[3] rs751511522
NM_004722.4(AP4M1):c.544-7_544-6del
NM_004722.4(AP4M1):c.555_556del (p.Asn185fs) rs2116643498
NM_004722.4(AP4M1):c.55G>A (p.Asp19Asn) rs1219582721
NM_004722.4(AP4M1):c.576C>G (p.Val192=)
NM_004722.4(AP4M1):c.576C>T (p.Val192=) rs776742429
NM_004722.4(AP4M1):c.58+14T>C
NM_004722.4(AP4M1):c.58+1_58+2del rs1796054104
NM_004722.4(AP4M1):c.58+2T>G rs1554377262
NM_004722.4(AP4M1):c.585G>A (p.Leu195=)
NM_004722.4(AP4M1):c.59-11C>T rs774846906
NM_004722.4(AP4M1):c.59-14C>T
NM_004722.4(AP4M1):c.59-16T>C
NM_004722.4(AP4M1):c.59-17G>A
NM_004722.4(AP4M1):c.591A>G (p.Val197=)
NM_004722.4(AP4M1):c.600A>G (p.Ala200=)
NM_004722.4(AP4M1):c.606+18A>C
NM_004722.4(AP4M1):c.607-13C>T
NM_004722.4(AP4M1):c.607-2_607-1del
NM_004722.4(AP4M1):c.607-5C>T
NM_004722.4(AP4M1):c.616C>T (p.Leu206=)
NM_004722.4(AP4M1):c.622G>A (p.Val208Met)
NM_004722.4(AP4M1):c.63_64del (p.Asp23fs)
NM_004722.4(AP4M1):c.666C>T (p.Ser222=)
NM_004722.4(AP4M1):c.673+11T>C
NM_004722.4(AP4M1):c.673+18A>G
NM_004722.4(AP4M1):c.674-19A>T rs1010643109
NM_004722.4(AP4M1):c.674-19_674-17del
NM_004722.4(AP4M1):c.674-6C>T
NM_004722.4(AP4M1):c.674-8_674-6del rs2116650324
NM_004722.4(AP4M1):c.697G>T (p.Glu233Ter)
NM_004722.4(AP4M1):c.706G>T (p.Val236Leu)
NM_004722.4(AP4M1):c.707T>C (p.Val236Ala)
NM_004722.4(AP4M1):c.728-12C>T
NM_004722.4(AP4M1):c.728-17T>C
NM_004722.4(AP4M1):c.728-21TC[5] rs748639289
NM_004722.4(AP4M1):c.728-21TC[6]
NM_004722.4(AP4M1):c.728-8C>T
NM_004722.4(AP4M1):c.729T>G (p.Gly243=)
NM_004722.4(AP4M1):c.741A>C (p.Gly247=) rs1051745199
NM_004722.4(AP4M1):c.750C>A (p.Val250=)
NM_004722.4(AP4M1):c.751G>A (p.Asp251Asn)
NM_004722.4(AP4M1):c.776_777del (p.Val259fs) rs1397027035
NM_004722.4(AP4M1):c.781C>G (p.Leu261Val)
NM_004722.4(AP4M1):c.797C>G (p.Ser266Cys) rs2116654283
NM_004722.4(AP4M1):c.807C>T (p.Ile269=) rs755494077
NM_004722.4(AP4M1):c.819A>G (p.Gln273=)
NM_004722.4(AP4M1):c.834+8T>C
NM_004722.4(AP4M1):c.839C>T (p.Thr280Ile)
NM_004722.4(AP4M1):c.840T>G (p.Thr280=)
NM_004722.4(AP4M1):c.842_843del (p.Val281fs) rs776788025
NM_004722.4(AP4M1):c.843G>A (p.Val281=)
NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser) rs1554380391
NM_004722.4(AP4M1):c.85G>A (p.Val29Met)
NM_004722.4(AP4M1):c.861dup (p.Asp288fs)
NM_004722.4(AP4M1):c.864T>C (p.Asp288=)
NM_004722.4(AP4M1):c.866A>G (p.Asp289Gly) rs1584516454
NM_004722.4(AP4M1):c.872C>A (p.Pro291His)
NM_004722.4(AP4M1):c.878C>T (p.Pro293Leu) rs757649099
NM_004722.4(AP4M1):c.891G>C (p.Arg297=)
NM_004722.4(AP4M1):c.923C>G (p.Ser308Ter) rs1131691556
NM_004722.4(AP4M1):c.923C>T (p.Ser308Leu) rs1131691556
NM_004722.4(AP4M1):c.929+10T>C rs758175403
NM_004722.4(AP4M1):c.929+5G>A rs1293317548
NM_004722.4(AP4M1):c.930-11C>T
NM_004722.4(AP4M1):c.930-1G>C
NM_004722.4(AP4M1):c.930-4C>G
NM_004722.4(AP4M1):c.930-6A>C
NM_004722.4(AP4M1):c.961C>T (p.Leu321=)
NM_004722.4(AP4M1):c.975-13G>A
NM_004722.4(AP4M1):c.975-13G>T rs778720143
NM_004722.4(AP4M1):c.975-14C>A rs370610939
NM_004722.4(AP4M1):c.975-15C>T
NM_004722.4(AP4M1):c.975-16C>T
NM_004722.4(AP4M1):c.975-8C>T
NM_004722.4(AP4M1):c.975-9C>T
NM_004722.4(AP4M1):c.984C>A (p.Leu328=)
NM_004722.4(AP4M1):c.984C>G (p.Leu328=)
NM_004722.4(AP4M1):c.990C>G (p.Val330=) rs371813095
NM_004722.4(AP4M1):c.990C>T (p.Val330=)
NM_004722.4(AP4M1):c.994C>G (p.Leu332Val) rs2116668165
NM_004722.4(AP4M1):c.9C>A (p.Ser3=)
NM_005154.5(USP8):c.1022A>G (p.Glu341Gly)
NM_005154.5(USP8):c.104+17G>A
NM_005154.5(USP8):c.104+20A>G
NM_005154.5(USP8):c.104+5G>C
NM_005154.5(USP8):c.1050G>T (p.Gln350His) rs2051600642
NM_005154.5(USP8):c.1052C>T (p.Thr351Met)
NM_005154.5(USP8):c.1053G>A (p.Thr351=) rs1196856326
NM_005154.5(USP8):c.1148C>A (p.Pro383Gln)
NM_005154.5(USP8):c.1151T>A (p.Val384Asp)
NM_005154.5(USP8):c.1213C>T (p.Pro405Ser)
NM_005154.5(USP8):c.1218+17A>T
NM_005154.5(USP8):c.1219-20C>G
NM_005154.5(USP8):c.1296= (p.Gln432=)
NM_005154.5(USP8):c.1299A>G (p.Gln433=)
NM_005154.5(USP8):c.1301CTC[1] (p.Pro435del)
NM_005154.5(USP8):c.1330C>T (p.Arg444Cys) rs148244041
NM_005154.5(USP8):c.1531G>C (p.Glu511Gln) rs778969876
NM_005154.5(USP8):c.1553A>C (p.Gln518Pro) rs2141304804
NM_005154.5(USP8):c.1573A>T (p.Met525Leu)
NM_005154.5(USP8):c.1620C>T (p.Thr540=)
NM_005154.5(USP8):c.1637A>G (p.Lys546Arg)
NM_005154.5(USP8):c.1674A>T (p.Glu558Asp) rs1288098442
NM_005154.5(USP8):c.1692C>G (p.Ala564=) rs2141304977
NM_005154.5(USP8):c.1773A>C (p.Thr591=) rs370736010
NM_005154.5(USP8):c.1775C>T (p.Ser592Phe) rs1039670134
NM_005154.5(USP8):c.1793G>T (p.Gly598Val)
NM_005154.5(USP8):c.1859G>A (p.Arg620Lys)
NM_005154.5(USP8):c.1873G>A (p.Asp625Asn)
NM_005154.5(USP8):c.1878C>T (p.Thr626=)
NM_005154.5(USP8):c.1891-17T>A
NM_005154.5(USP8):c.1896A>G (p.Gln632=)
NM_005154.5(USP8):c.1925A>C (p.Glu642Ala) rs2141316371
NM_005154.5(USP8):c.1947A>G (p.Pro649=)
NM_005154.5(USP8):c.1972-20T>G
NM_005154.5(USP8):c.2235-20G>T
NM_005154.5(USP8):c.2307T>C (p.Phe769=) rs2141320965
NM_005154.5(USP8):c.2320C>T (p.Pro774Ser)
NM_005154.5(USP8):c.2383C>T (p.Leu795=) rs1595985288
NM_005154.5(USP8):c.2443A>G (p.Asn815Asp) rs1555392171
NM_005154.5(USP8):c.249+21_249+23del rs776173241
NM_005154.5(USP8):c.2519G>A (p.Gly840Glu)
NM_005154.5(USP8):c.2624T>C (p.Phe875Ser) rs2141323193
NM_005154.5(USP8):c.2658+5_2658+8dup rs535741597
NM_005154.5(USP8):c.268C>T (p.Leu90Phe)
NM_005154.5(USP8):c.2746C>A (p.Gln916Lys)
NM_005154.5(USP8):c.2809C>T (p.Leu937Phe)
NM_005154.5(USP8):c.2842G>C (p.Ala948Pro) rs2052386755
NM_005154.5(USP8):c.286A>C (p.Lys96Gln)
NM_005154.5(USP8):c.2879_2895+12dup
NM_005154.5(USP8):c.2896-8dup
NM_005154.5(USP8):c.297C>A (p.Val99=) rs183341645
NM_005154.5(USP8):c.297C>T (p.Val99=)
NM_005154.5(USP8):c.2983C>G (p.Leu995Val)
NM_005154.5(USP8):c.3018G>A (p.Val1006=)
NM_005154.5(USP8):c.3038+22_3038+24del
NM_005154.5(USP8):c.3079T>A (p.Ser1027Thr)
NM_005154.5(USP8):c.3119A>G (p.Tyr1040Cys)
NM_005154.5(USP8):c.3172-16_3172-13dup rs200945863
NM_005154.5(USP8):c.317C>G (p.Ser106Cys) rs2141265920
NM_005154.5(USP8):c.3290A>T (p.Lys1097Ile)
NM_005154.5(USP8):c.3292T>G (p.Ser1098Ala) rs762795803
NM_005154.5(USP8):c.3326T>C (p.Leu1109Ser)
NM_005154.5(USP8):c.3335G>A (p.Arg1112Gln)
NM_005154.5(USP8):c.335+4C>G
NM_005154.5(USP8):c.3353C>A (p.Thr1118Lys)
NM_005154.5(USP8):c.407A>C (p.Gln136Pro)
NM_005154.5(USP8):c.479C>G (p.Ser160Cys)
NM_005154.5(USP8):c.494A>T (p.Gln165Leu)
NM_005154.5(USP8):c.499-13T>C
NM_005154.5(USP8):c.513G>C (p.Lys171Asn)
NM_005154.5(USP8):c.515A>G (p.Asn172Ser)
NM_005154.5(USP8):c.530C>G (p.Thr177Ser)
NM_005154.5(USP8):c.542-19T>C
NM_005154.5(USP8):c.578C>T (p.Thr193Met)
NM_005154.5(USP8):c.587A>C (p.Asn196Thr) rs937524145
NM_005154.5(USP8):c.802T>G (p.Leu268Val)
NM_005154.5(USP8):c.808A>G (p.Ile270Val)
NM_005154.5(USP8):c.824G>A (p.Arg275Gln)
NM_005154.5(USP8):c.930G>T (p.Gln310His)
NM_005154.5(USP8):c.952_955dup (p.Pro319fs)
NM_005154.5(USP8):c.965G>A (p.Arg322Gln)
NM_005154.5(USP8):c.988A>G (p.Ile330Val)
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.1034C>T (p.Ser345Phe)
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.105A>G (p.Glu35=)
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.1170G>A (p.Gln390=)
NM_006070.6(TFG):c.1175A>G (p.Tyr392Cys)
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.1188A>G (p.Gly396=)
NM_006070.6(TFG):c.1191T>C (p.Pro397=)
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+18G>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.185-11_185-10del
NM_006070.6(TFG):c.185-12T>C
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.278A>G (p.Gln93Arg)
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.291T>C (p.Leu97=)
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.384A>G (p.Glu128=)
NM_006070.6(TFG):c.398C>T (p.Thr133Ile)
NM_006070.6(TFG):c.403A>G (p.Ile135Val)
NM_006070.6(TFG):c.404T>C (p.Ile135Thr)
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.43G>A (p.Ala15Thr)
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.513A>G (p.Leu171=)
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.543T>C (p.Val181=)
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.581-7T>C
NM_006070.6(TFG):c.581-8C>A
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.632C>T (p.Ala211Val)
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.660A>G (p.Pro220=)
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.688A>G (p.Thr230Ala)
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.722-15T>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.726G>T (p.Gln242His)
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.761G>A (p.Gly254Asp)
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.795T>C (p.Pro265=)
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.821-14T>C
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.821-21T>G
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.845_846delinsTC (p.Pro282Leu)
NM_006070.6(TFG):c.851A>C (p.Gln284Pro)
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.914C>G (p.Ser305Cys)
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>A (p.Leu311=)
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.971dup (p.Tyr324Ter)
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.995A>G (p.Gln332Arg)
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_006459.4(ERLIN1):c.1026A>G (p.Gln342=)
NM_006459.4(ERLIN1):c.1036A>C (p.Ser346Arg)
NM_006459.4(ERLIN1):c.113+14G>T
NM_006459.4(ERLIN1):c.113+16A>G
NM_006459.4(ERLIN1):c.113+20A>G
NM_006459.4(ERLIN1):c.114-16A>G
NM_006459.4(ERLIN1):c.160A>G (p.Met54Val)
NM_006459.4(ERLIN1):c.162G>T (p.Met54Ile) rs1844798250
NM_006459.4(ERLIN1):c.179C>T (p.Thr60Met)
NM_006459.4(ERLIN1):c.196-4C>G
NM_006459.4(ERLIN1):c.198A>G (p.Thr66=)
NM_006459.4(ERLIN1):c.207A>G (p.Gln69=)
NM_006459.4(ERLIN1):c.225T>C (p.Asn75=)
NM_006459.4(ERLIN1):c.237A>T (p.Gly79=)
NM_006459.4(ERLIN1):c.242+20A>G rs1405477765
NM_006459.4(ERLIN1):c.242+3A>C
NM_006459.4(ERLIN1):c.243-5T>C
NM_006459.4(ERLIN1):c.269G>A (p.Arg90Gln)
NM_006459.4(ERLIN1):c.269G>T (p.Arg90Leu) rs779963349
NM_006459.4(ERLIN1):c.27G>C (p.Leu9=)
NM_006459.4(ERLIN1):c.284A>G (p.Asn95Ser) rs2134169468
NM_006459.4(ERLIN1):c.372T>C (p.His124=)
NM_006459.4(ERLIN1):c.430+15T>C
NM_006459.4(ERLIN1):c.430+20T>C
NM_006459.4(ERLIN1):c.431-13G>C
NM_006459.4(ERLIN1):c.471C>G (p.Asp157Glu) rs1844166742
NM_006459.4(ERLIN1):c.480C>A (p.Leu160=)
NM_006459.4(ERLIN1):c.504+8C>A
NM_006459.4(ERLIN1):c.563+1G>A
NM_006459.4(ERLIN1):c.564-20T>C
NM_006459.4(ERLIN1):c.564-20_564-18del rs2134127478
NM_006459.4(ERLIN1):c.609G>C (p.Lys203Asn)
NM_006459.4(ERLIN1):c.60G>C (p.Leu20=)
NM_006459.4(ERLIN1):c.610G>A (p.Val204Ile) rs1589525631
NM_006459.4(ERLIN1):c.653T>C (p.Ile218Thr) rs1363645775
NM_006459.4(ERLIN1):c.655+17G>A
NM_006459.4(ERLIN1):c.656-20_656-18del rs548789974
NM_006459.4(ERLIN1):c.668T>C (p.Ile223Thr)
NM_006459.4(ERLIN1):c.669T>C (p.Ile223=)
NM_006459.4(ERLIN1):c.713A>T (p.Lys238Ile)
NM_006459.4(ERLIN1):c.72C>T (p.Ser24=)
NM_006459.4(ERLIN1):c.741C>G (p.Ile247Met)
NM_006459.4(ERLIN1):c.745+18G>A
NM_006459.4(ERLIN1):c.746-9A>G
NM_006459.4(ERLIN1):c.760G>T (p.Ala254Ser)
NM_006459.4(ERLIN1):c.774G>A (p.Ala258=)
NM_006459.4(ERLIN1):c.799G>A (p.Ala267Thr) rs1244277642
NM_006459.4(ERLIN1):c.79A>G (p.Lys27Glu) rs1199328865
NM_006459.4(ERLIN1):c.810T>C (p.Tyr270=)
NM_006459.4(ERLIN1):c.816C>T (p.Thr272=)
NM_006459.4(ERLIN1):c.825+8G>A
NM_006459.4(ERLIN1):c.826-10T>C
NM_006459.4(ERLIN1):c.826-7del
NM_006459.4(ERLIN1):c.840G>A (p.Pro280=)
NM_006459.4(ERLIN1):c.855C>G (p.Leu285=)
NM_006459.4(ERLIN1):c.874G>T (p.Ala292Ser)
NM_006459.4(ERLIN1):c.907A>G (p.Ile303Val)
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.1078G>A (p.Ala360Thr)
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.1247C>T (p.Pro416Leu)
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.1308G>A (p.Gly436=)
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.1572-5C>T
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.1667-16C>A
NM_006612.6(KIF1C):c.1667-8C>G
NM_006612.6(KIF1C):c.1707T>C (p.Tyr569=)
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.1751-12T>C
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.180T>C (p.Thr60=)
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.184-20C>G
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.2187C>G (p.Pro729=)
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.2220C>G (p.Arg740=)
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.2271C>T (p.Tyr757=)
NM_006612.6(KIF1C):c.2272G>C (p.Glu758Gln)
NM_006612.6(KIF1C):c.2301G>A (p.Gly767=)
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.238del (p.Glu80fs)
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+15C>T
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.2799C>T (p.Ala933=)
NM_006612.6(KIF1C):c.2833G>A (p.Glu945Lys)
NM_006612.6(KIF1C):c.2847G>T (p.Leu949=)
NM_006612.6(KIF1C):c.2850G>A (p.Gln950=)
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.3063G>A (p.Pro1021=)
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.3123G>C (p.Arg1041=)
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.364-9C>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.549A>G (p.Lys183=)
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+10C>G
NM_006612.6(KIF1C):c.720+11C>T rs770907929
NM_006612.6(KIF1C):c.720+12C>G
NM_006612.6(KIF1C):c.720+13C>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.720+9G>A
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.865-13T>G
NM_006612.6(KIF1C):c.865-4C>T
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.966T>C (p.Ile322=)
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+10_1317+11delinsAC
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.1402A>G (p.Met468Val)
NM_012073.5(CCT5):c.1429G>C (p.Val477Leu)
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+18C>T
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.1545A>G (p.Gln515=)
NM_012073.5(CCT5):c.1552T>C (p.Ser518Pro)
NM_012073.5(CCT5):c.1562C>T (p.Thr521Ile)
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.207T>C (p.Thr69=) rs1579447878
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.332-20G>C
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.393C>G (p.Ile131Met)
NM_012073.5(CCT5):c.402C>T (p.Ala134=)
NM_012073.5(CCT5):c.40C>T (p.Arg14Cys)
NM_012073.5(CCT5):c.426T>A (p.Arg142=)
NM_012073.5(CCT5):c.426_427inv (p.Val143Ile)
NM_012073.5(CCT5):c.433A>G (p.Ile145Val)
NM_012073.5(CCT5):c.441C>G (p.His147Gln)
NM_012073.5(CCT5):c.469G>T (p.Val157Phe)
NM_012073.5(CCT5):c.472G>A (p.Asp158Asn)
NM_012073.5(CCT5):c.474C>T (p.Asp158=)
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.490C>T (p.Pro164Ser)
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.576C>A (p.Ala192=)
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.69C>T (p.Asp23=)
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.749T>G (p.Ile250Ser)
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.81T>C (p.Arg27=)
NM_012073.5(CCT5):c.823A>G (p.Lys275Glu)
NM_012073.5(CCT5):c.85A>C (p.Met29Leu) rs773861292
NM_012073.5(CCT5):c.873+11C>G
NM_012073.5(CCT5):c.873+12C>T
NM_012073.5(CCT5):c.873A>C (p.Gln291His)
NM_012073.5(CCT5):c.874-9T>C
NM_012073.5(CCT5):c.898G>A (p.Ala300Thr)
NM_012073.5(CCT5):c.924T>C (p.Asp308=)
NM_012073.5(CCT5):c.936_937del (p.Leu313fs)
NM_012073.5(CCT5):c.942T>A (p.Leu314=)
NM_012073.5(CCT5):c.963G>A (p.Ala321=)
NM_012073.5(CCT5):c.993+10T>A rs2126513359
NM_012073.5(CCT5):c.993+15G>A
NM_012073.5(CCT5):c.994-11A>G
NM_012073.5(CCT5):c.994-17C>G
NM_012073.5(CCT5):c.994-19C>T
NM_012073.5(CCT5):c.994-4T>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.1026G>A (p.Leu342=)
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+16A>C
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.1134G>A (p.Gln378=)
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.1608T>C (p.Gly536=)
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.1871C>T (p.Ala624Val)
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.2031C>A (p.Pro677=)
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.2374_2377del (p.Gly792fs)
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.2436C>G (p.Gly812=)
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.2589C>T (p.Leu863=)
NM_014844.5(TECPR2):c.2595G>A (p.Lys865=)
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.2658C>T (p.His886=)
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>A
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.2854G>C (p.Glu952Gln)
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.2880G>A (p.Glu960=)
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.2910G>A (p.Glu970=)
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.3640+9A>C
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.3690C>T (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.4029C>A (p.Asn1343Lys)
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.4206G>A (p.Glu1402=)
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+19A>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.948C>T (p.Asn316=)
NM_014844.5(TECPR2):c.949C>T (p.Gln317Ter)
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_014846.4(WASHC5):c.1005A>G (p.Glu335=)
NM_014846.4(WASHC5):c.1024C>T (p.Gln342Ter)
NM_014846.4(WASHC5):c.1037AAG[1] (p.Glu347del) rs764020658
NM_014846.4(WASHC5):c.1060A>G (p.Met354Val)
NM_014846.4(WASHC5):c.1074T>C (p.Asn358=)
NM_014846.4(WASHC5):c.1089G>A (p.Leu363=)
NM_014846.4(WASHC5):c.1121G>A (p.Arg374Gln)
NM_014846.4(WASHC5):c.113C>G (p.Ala38Gly)
NM_014846.4(WASHC5):c.1140A>G (p.Thr380=)
NM_014846.4(WASHC5):c.1151-16C>T
NM_014846.4(WASHC5):c.1151-17A>T
NM_014846.4(WASHC5):c.1151-2A>G rs1563627853
NM_014846.4(WASHC5):c.1163A>G (p.Asn388Ser)
NM_014846.4(WASHC5):c.1166A>G (p.Asn389Ser)
NM_014846.4(WASHC5):c.1172G>A (p.Arg391His)
NM_014846.4(WASHC5):c.117G>A (p.Val39=)
NM_014846.4(WASHC5):c.1188G>C (p.Lys396Asn)
NM_014846.4(WASHC5):c.1205A>G (p.Asp402Gly)
NM_014846.4(WASHC5):c.1278+13G>T
NM_014846.4(WASHC5):c.1278+9A>G
NM_014846.4(WASHC5):c.1340C>T (p.Ser447Leu) rs886062654
NM_014846.4(WASHC5):c.1341G>A (p.Ser447=)
NM_014846.4(WASHC5):c.1341G>T (p.Ser447=) rs763975296
NM_014846.4(WASHC5):c.1345C>A (p.Arg449=) rs886062653
NM_014846.4(WASHC5):c.1368del (p.Ser458fs)
NM_014846.4(WASHC5):c.136G>A (p.Ala46Thr)
NM_014846.4(WASHC5):c.1378G>T (p.Val460Leu)
NM_014846.4(WASHC5):c.1409-8A>C rs878854986
NM_014846.4(WASHC5):c.1413C>T (p.Asn471=)
NM_014846.4(WASHC5):c.1424G>A (p.Trp475Ter) rs1030054011
NM_014846.4(WASHC5):c.1450T>C (p.Leu484=)
NM_014846.4(WASHC5):c.1473T>C (p.Ser491=)
NM_014846.4(WASHC5):c.1481C>T (p.Ala494Val)
NM_014846.4(WASHC5):c.1504A>T (p.Ile502Leu)
NM_014846.4(WASHC5):c.1510G>A (p.Ala504Thr)
NM_014846.4(WASHC5):c.1522-20A>G
NM_014846.4(WASHC5):c.1540T>G (p.Leu514Val)
NM_014846.4(WASHC5):c.1543G>C (p.Glu515Gln)
NM_014846.4(WASHC5):c.1557A>G (p.Gln519=) rs1374104992
NM_014846.4(WASHC5):c.1578T>C (p.Asp526=) rs1340926359
NM_014846.4(WASHC5):c.1580C>T (p.Thr527Ile)
NM_014846.4(WASHC5):c.1583G>A (p.Arg528Gln)
NM_014846.4(WASHC5):c.1651G>A (p.Val551Ile)
NM_014846.4(WASHC5):c.1688+10del rs757113799
NM_014846.4(WASHC5):c.1688+5T>G
NM_014846.4(WASHC5):c.1689-19G>A
NM_014846.4(WASHC5):c.1705C>G (p.Gln569Glu) rs1816510758
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly) rs761801345
NM_014846.4(WASHC5):c.1749A>C (p.Arg583Ser)
NM_014846.4(WASHC5):c.1764+14A>G
NM_014846.4(WASHC5):c.1765-19T>A
NM_014846.4(WASHC5):c.1765-3dup
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe) rs1554593899
NM_014846.4(WASHC5):c.1788C>G (p.Pro596=)
NM_014846.4(WASHC5):c.1850G>T (p.Gly617Val)
NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe) rs80338866
NM_014846.4(WASHC5):c.186+14A>C
NM_014846.4(WASHC5):c.186+16A>C
NM_014846.4(WASHC5):c.186+1G>C
NM_014846.4(WASHC5):c.186+3A>G
NM_014846.4(WASHC5):c.187-18T>C
NM_014846.4(WASHC5):c.187-19_187-18del
NM_014846.4(WASHC5):c.187-5C>A
NM_014846.4(WASHC5):c.187-6dup rs745362878
NM_014846.4(WASHC5):c.1875+14C>T
NM_014846.4(WASHC5):c.1875+3A>C
NM_014846.4(WASHC5):c.1876-11T>C
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014846.4(WASHC5):c.187G>A (p.Gly63Ser)
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg) rs1816420898
NM_014846.4(WASHC5):c.1885A>T (p.Ile629Phe) rs1277499447
NM_014846.4(WASHC5):c.1892C>T (p.Pro631Leu) rs1586359734
NM_014846.4(WASHC5):c.1901T>A (p.Met634Lys) rs768146940
NM_014846.4(WASHC5):c.193G>A (p.Glu65Lys)
NM_014846.4(WASHC5):c.1941C>T (p.His647=)
NM_014846.4(WASHC5):c.1948A>G (p.Ile650Val) rs1188960621
NM_014846.4(WASHC5):c.1956G>T (p.Val652=)
NM_014846.4(WASHC5):c.1960A>G (p.Thr654Ala)
NM_014846.4(WASHC5):c.1963C>T (p.Arg655Cys)
NM_014846.4(WASHC5):c.1972A>G (p.Lys658Glu)
NM_014846.4(WASHC5):c.1991A>C (p.Tyr664Ser)
NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val) rs763639768
NM_014846.4(WASHC5):c.2014G>A (p.Glu672Lys)
NM_014846.4(WASHC5):c.2016+10C>G rs1260941212
NM_014846.4(WASHC5):c.2016+20T>C
NM_014846.4(WASHC5):c.2016+6G>C
NM_014846.4(WASHC5):c.2017-16T>A
NM_014846.4(WASHC5):c.2017-20C>A rs759179193
NM_014846.4(WASHC5):c.2034T>C (p.His678=)
NM_014846.4(WASHC5):c.2042C>A (p.Ser681Tyr)
NM_014846.4(WASHC5):c.204A>G (p.Glu68=)
NM_014846.4(WASHC5):c.2052T>G (p.Thr684=) rs886062652
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser) rs1060502725
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp) rs397515564
NM_014846.4(WASHC5):c.2090TCA[1] (p.Ile698del) rs1554593551
NM_014846.4(WASHC5):c.2097+3A>G
NM_014846.4(WASHC5):c.2097+6A>G
NM_014846.4(WASHC5):c.2098-5C>G
NM_014846.4(WASHC5):c.2098G>A (p.Val700Met) rs777613204
NM_014846.4(WASHC5):c.2119G>C (p.Glu707Gln)
NM_014846.4(WASHC5):c.2137G>A (p.Glu713Lys) rs878854987
NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val) rs1586352875
NM_014846.4(WASHC5):c.2190T>C (p.Pro730=) rs955321507
NM_014846.4(WASHC5):c.2199+15_2199+16delinsTG
NM_014846.4(WASHC5):c.2199+6C>T
NM_014846.4(WASHC5):c.2200-18G>A
NM_014846.4(WASHC5):c.2238G>T (p.Ala746=) rs376307168
NM_014846.4(WASHC5):c.2255A>G (p.His752Arg)
NM_014846.4(WASHC5):c.2258G>A (p.Arg753His)
NM_014846.4(WASHC5):c.2273T>C (p.Ile758Thr)
NM_014846.4(WASHC5):c.234G>A (p.Gln78=)
NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala) rs1419129064
NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met) rs780468544
NM_014846.4(WASHC5):c.2430G>A (p.Lys810=) rs140742485
NM_014846.4(WASHC5):c.2430G>C (p.Lys810Asn) rs140742485
NM_014846.4(WASHC5):c.2438_2439del (p.Pro813fs)
NM_014846.4(WASHC5):c.2468G>A (p.Arg823Gln)
NM_014846.4(WASHC5):c.2491A>T (p.Ile831Phe)
NM_014846.4(WASHC5):c.2504+5G>A
NM_014846.4(WASHC5):c.2506A>G (p.Met836Val) rs2130023977
NM_014846.4(WASHC5):c.2521G>C (p.Asp841His) rs2130023882
NM_014846.4(WASHC5):c.2532C>T (p.Asn844=) rs760598224
NM_014846.4(WASHC5):c.2545A>G (p.Met849Val) rs1355658998
NM_014846.4(WASHC5):c.2562A>G (p.Glu854=)
NM_014846.4(WASHC5):c.2566A>G (p.Thr856Ala)
NM_014846.4(WASHC5):c.2572A>G (p.Ser858Gly)
NM_014846.4(WASHC5):c.2595_2599del (p.Gln865fs)
NM_014846.4(WASHC5):c.2635C>A (p.Leu879Ile)
NM_014846.4(WASHC5):c.2647A>G (p.Met883Val)
NM_014846.4(WASHC5):c.2654T>C (p.Val885Ala)
NM_014846.4(WASHC5):c.265A>G (p.Ile89Val)
NM_014846.4(WASHC5):c.2668-18G>A
NM_014846.4(WASHC5):c.2671T>G (p.Phe891Val)
NM_014846.4(WASHC5):c.26A>G (p.Asn9Ser)
NM_014846.4(WASHC5):c.2711C>T (p.Thr904Ile)
NM_014846.4(WASHC5):c.2733C>T (p.Thr911=)
NM_014846.4(WASHC5):c.2734C>T (p.Leu912Phe)
NM_014846.4(WASHC5):c.2770+6T>C rs2130019658
NM_014846.4(WASHC5):c.2771-17A>G
NM_014846.4(WASHC5):c.2789A>C (p.Tyr930Ser) rs1815970512
NM_014846.4(WASHC5):c.2794T>A (p.Ser932Thr)
NM_014846.4(WASHC5):c.2833C>G (p.Leu945Val)
NM_014846.4(WASHC5):c.2836G>A (p.Glu946Lys)
NM_014846.4(WASHC5):c.2842A>G (p.Ile948Val)
NM_014846.4(WASHC5):c.2851-18del
NM_014846.4(WASHC5):c.2860A>T (p.Met954Leu)
NM_014846.4(WASHC5):c.2904T>G (p.Ser968=)
NM_014846.4(WASHC5):c.2928G>C (p.Leu976=)
NM_014846.4(WASHC5):c.292G>T (p.Ala98Ser)
NM_014846.4(WASHC5):c.2938C>T (p.Leu980=)
NM_014846.4(WASHC5):c.2944A>G (p.Asn982Asp)
NM_014846.4(WASHC5):c.2949C>T (p.Leu983=)
NM_014846.4(WASHC5):c.2955-7C>T rs767591968
NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val) rs1554591077
NM_014846.4(WASHC5):c.2973T>G (p.Ile991Met)
NM_014846.4(WASHC5):c.3024_3025del (p.Leu1009fs) rs765926045
NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys) rs767608029
NM_014846.4(WASHC5):c.3065T>C (p.Ile1022Thr) rs150819213
NM_014846.4(WASHC5):c.3084+18A>G
NM_014846.4(WASHC5):c.3085-8C>T
NM_014846.4(WASHC5):c.3129C>G (p.Asn1043Lys)
NM_014846.4(WASHC5):c.3144C>T (p.Ile1048=)
NM_014846.4(WASHC5):c.3146C>T (p.Ala1049Val)
NM_014846.4(WASHC5):c.3160C>G (p.Leu1054Val)
NM_014846.4(WASHC5):c.3163C>T (p.Gln1055Ter)
NM_014846.4(WASHC5):c.3165A>G (p.Gln1055=) rs777978845
NM_014846.4(WASHC5):c.3182-16A>G
NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu) rs149383757
NM_014846.4(WASHC5):c.3202A>T (p.Thr1068Ser) rs2129964066
NM_014846.4(WASHC5):c.3205G>A (p.Asp1069Asn)
NM_014846.4(WASHC5):c.3207C>A (p.Asp1069Glu)
NM_014846.4(WASHC5):c.3209C>T (p.Pro1070Leu)
NM_014846.4(WASHC5):c.3210G>T (p.Pro1070=) rs200733182
NM_014846.4(WASHC5):c.3214G>A (p.Asp1072Asn)
NM_014846.4(WASHC5):c.3217T>C (p.Trp1073Arg)
NM_014846.4(WASHC5):c.332+11A>G rs755037747
NM_014846.4(WASHC5):c.332+4T>C
NM_014846.4(WASHC5):c.3328T>C (p.Cys1110Arg)
NM_014846.4(WASHC5):c.333-19A>G rs2384916
NM_014846.4(WASHC5):c.333-19A>T
NM_014846.4(WASHC5):c.333-20_333-19inv
NM_014846.4(WASHC5):c.3335+5A>C rs1815562338
NM_014846.4(WASHC5):c.3335+9G>T
NM_014846.4(WASHC5):c.3335G>A (p.Ser1112Asn) rs1324512839
NM_014846.4(WASHC5):c.3375C>T (p.Ala1125=) rs2129947881
NM_014846.4(WASHC5):c.3400C>T (p.Arg1134Trp)
NM_014846.4(WASHC5):c.3423+16T>A
NM_014846.4(WASHC5):c.3424-19_3424-15del
NM_014846.4(WASHC5):c.3450C>G (p.Phe1150Leu)
NM_014846.4(WASHC5):c.350A>G (p.Asn117Ser)
NM_014846.4(WASHC5):c.375C>G (p.Thr125=)
NM_014846.4(WASHC5):c.408A>G (p.Lys136=)
NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg) rs1563636568
NM_014846.4(WASHC5):c.417+9T>G
NM_014846.4(WASHC5):c.420T>G (p.Cys140Trp)
NM_014846.4(WASHC5):c.445A>G (p.Met149Val) rs1817270519
NM_014846.4(WASHC5):c.450A>G (p.Leu150=) rs778468473
NM_014846.4(WASHC5):c.498G>A (p.Leu166=) rs1586388281
NM_014846.4(WASHC5):c.50G>C (p.Arg17Thr)
NM_014846.4(WASHC5):c.518+13T>C
NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter) rs1362286755
NM_014846.4(WASHC5):c.541T>A (p.Ser181Thr) rs1817146560
NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln) rs1586384678
NM_014846.4(WASHC5):c.633T>G (p.Tyr211Ter)
NM_014846.4(WASHC5):c.656A>G (p.Glu219Gly)
NM_014846.4(WASHC5):c.666C>T (p.Ile222=) rs367837906
NM_014846.4(WASHC5):c.672G>T (p.Met224Ile)
NM_014846.4(WASHC5):c.683G>A (p.Arg228Gln)
NM_014846.4(WASHC5):c.689G>A (p.Arg230Lys) rs1817137048
NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter) rs1563633906
NM_014846.4(WASHC5):c.711+16A>G
NM_014846.4(WASHC5):c.712-13C>G
NM_014846.4(WASHC5):c.712-15G>A
NM_014846.4(WASHC5):c.712-16C>T
NM_014846.4(WASHC5):c.712-7A>G
NM_014846.4(WASHC5):c.720G>A (p.Ala240=) rs758215702
NM_014846.4(WASHC5):c.733G>C (p.Glu245Gln)
NM_014846.4(WASHC5):c.740G>A (p.Arg247His)
NM_014846.4(WASHC5):c.746C>G (p.Thr249Arg)
NM_014846.4(WASHC5):c.747A>T (p.Thr249=)
NM_014846.4(WASHC5):c.778G>A (p.Val260Met)
NM_014846.4(WASHC5):c.786C>T (p.Leu262=)
NM_014846.4(WASHC5):c.81T>C (p.Ala27=)
NM_014846.4(WASHC5):c.860A>G (p.Asn287Ser) rs1020805660
NM_014846.4(WASHC5):c.864+9T>G
NM_014846.4(WASHC5):c.880A>C (p.Met294Leu) rs755946575
NM_014846.4(WASHC5):c.880A>G (p.Met294Val)
NM_014846.4(WASHC5):c.884G>A (p.Gly295Glu)
NM_014846.4(WASHC5):c.88T>C (p.Leu30=)
NM_014846.4(WASHC5):c.913G>T (p.Glu305Ter) rs377540152
NM_014846.4(WASHC5):c.925G>A (p.Ala309Thr)
NM_014846.4(WASHC5):c.93A>G (p.Arg31=) rs2130220935
NM_014846.4(WASHC5):c.96C>G (p.Leu32=) rs1060504698
NM_014846.4(WASHC5):c.978+15G>A
NM_014846.4(WASHC5):c.978+20C>T
NM_014846.4(WASHC5):c.979-6G>A
NM_014846.4(WASHC5):c.990T>C (p.Tyr330=)
NM_014855.3(AP5Z1):c.1008C>T (p.Cys336=)
NM_014855.3(AP5Z1):c.1020G>A (p.Pro340=)
NM_014855.3(AP5Z1):c.1020G>T (p.Pro340=)
NM_014855.3(AP5Z1):c.1034G>A (p.Arg345Gln)
NM_014855.3(AP5Z1):c.1037G>C (p.Ser346Thr)
NM_014855.3(AP5Z1):c.1042_1043del (p.Ser348fs)
NM_014855.3(AP5Z1):c.1063G>A (p.Gly355Arg)
NM_014855.3(AP5Z1):c.1068G>A (p.Arg356=)
NM_014855.3(AP5Z1):c.1073_1099del (p.Arg358_Val366del) rs1339701497
NM_014855.3(AP5Z1):c.1087T>C (p.Ser363Pro)
NM_014855.3(AP5Z1):c.1088C>T (p.Ser363Phe)
NM_014855.3(AP5Z1):c.1096G>T (p.Val366Leu)
NM_014855.3(AP5Z1):c.1101G>A (p.Leu367=)
NM_014855.3(AP5Z1):c.1108C>G (p.Leu370Val)
NM_014855.3(AP5Z1):c.1117TTC[1] (p.Phe374del)
NM_014855.3(AP5Z1):c.1124T>C (p.Leu375Pro)
NM_014855.3(AP5Z1):c.1131C>G (p.His377Gln)
NM_014855.3(AP5Z1):c.1132+1_1132+3del rs2115114032
NM_014855.3(AP5Z1):c.1133-12C>G
NM_014855.3(AP5Z1):c.1133-12C>T
NM_014855.3(AP5Z1):c.1133-15dup
NM_014855.3(AP5Z1):c.1133-16G>A
NM_014855.3(AP5Z1):c.1137A>G (p.Glu379=)
NM_014855.3(AP5Z1):c.1144G>A (p.Ala382Thr) rs753529900
NM_014855.3(AP5Z1):c.1161C>T (p.Ala387=)
NM_014855.3(AP5Z1):c.1168C>G (p.Gln390Glu)
NM_014855.3(AP5Z1):c.1181C>T (p.Thr394Ile)
NM_014855.3(AP5Z1):c.1191G>A (p.Pro397=)
NM_014855.3(AP5Z1):c.1197_1198delinsAG (p.Gln400Glu) rs1583234434
NM_014855.3(AP5Z1):c.1201T>C (p.Phe401Leu)
NM_014855.3(AP5Z1):c.1208G>A (p.Ser403Asn)
NM_014855.3(AP5Z1):c.1251C>T (p.Asn417=)
NM_014855.3(AP5Z1):c.1260G>A (p.Leu420=)
NM_014855.3(AP5Z1):c.1260G>T (p.Leu420=)
NM_014855.3(AP5Z1):c.1266C>T (p.Ser422=)
NM_014855.3(AP5Z1):c.1281C>A (p.Thr427=)
NM_014855.3(AP5Z1):c.1290G>C (p.Leu430Phe)
NM_014855.3(AP5Z1):c.1301A>G (p.Asn434Ser)
NM_014855.3(AP5Z1):c.1311+11G>A
NM_014855.3(AP5Z1):c.1311+17C>G
NM_014855.3(AP5Z1):c.1311+7T>G
NM_014855.3(AP5Z1):c.1312-9T>G rs964732025
NM_014855.3(AP5Z1):c.1315C>G (p.Leu439Val) rs113014863
NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=) rs113014863
NM_014855.3(AP5Z1):c.1344C>T (p.Ser448=)
NM_014855.3(AP5Z1):c.1345G>A (p.Glu449Lys)
NM_014855.3(AP5Z1):c.1353G>T (p.Val451=)
NM_014855.3(AP5Z1):c.1374G>A (p.Val458=)
NM_014855.3(AP5Z1):c.1378G>A (p.Ala460Thr) rs371881628
NM_014855.3(AP5Z1):c.1378G>T (p.Ala460Ser)
NM_014855.3(AP5Z1):c.1385C>T (p.Thr462Ile)
NM_014855.3(AP5Z1):c.1391T>C (p.Leu464Pro)
NM_014855.3(AP5Z1):c.1403A>G (p.His468Arg)
NM_014855.3(AP5Z1):c.1404C>T (p.His468=)
NM_014855.3(AP5Z1):c.1424G>A (p.Cys475Tyr)
NM_014855.3(AP5Z1):c.1433C>T (p.Ala478Val)
NM_014855.3(AP5Z1):c.1454+5G>T rs1583236514
NM_014855.3(AP5Z1):c.1454+6C>T
NM_014855.3(AP5Z1):c.1455-14G>A
NM_014855.3(AP5Z1):c.1455-15C>T
NM_014855.3(AP5Z1):c.1455-18G>A
NM_014855.3(AP5Z1):c.1455-4G>A rs539344057
NM_014855.3(AP5Z1):c.1455-5C>T
NM_014855.3(AP5Z1):c.1455-7_1455-5dup
NM_014855.3(AP5Z1):c.1473C>T (p.Ser491=)
NM_014855.3(AP5Z1):c.1474G>C (p.Glu492Gln)
NM_014855.3(AP5Z1):c.1498C>T (p.Leu500Phe)
NM_014855.3(AP5Z1):c.1499_1500del (p.Leu500fs)
NM_014855.3(AP5Z1):c.1505C>T (p.Ala502Val)
NM_014855.3(AP5Z1):c.1506C>A (p.Ala502=)
NM_014855.3(AP5Z1):c.1509_1595+26del
NM_014855.3(AP5Z1):c.1521G>C (p.Glu507Asp) rs771555660
NM_014855.3(AP5Z1):c.1523C>G (p.Ala508Gly) rs370879999
NM_014855.3(AP5Z1):c.1524C>A (p.Ala508=)
NM_014855.3(AP5Z1):c.1530G>C (p.Arg510=) rs2115120162
NM_014855.3(AP5Z1):c.1534C>G (p.Pro512Ala)
NM_014855.3(AP5Z1):c.1535C>T (p.Pro512Leu)
NM_014855.3(AP5Z1):c.1536G>T (p.Pro512=) rs757364334
NM_014855.3(AP5Z1):c.1566G>A (p.Leu522=)
NM_014855.3(AP5Z1):c.1569C>T (p.Arg523=)
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800
NM_014855.3(AP5Z1):c.1585G>A (p.Ala529Thr) rs535174478
NM_014855.3(AP5Z1):c.1589C>G (p.Thr530Ser)
NM_014855.3(AP5Z1):c.158C>T (p.Ser53Leu)
NM_014855.3(AP5Z1):c.1595+10C>T
NM_014855.3(AP5Z1):c.1595+15G>A
NM_014855.3(AP5Z1):c.1595+17C>A
NM_014855.3(AP5Z1):c.1595+5G>A
NM_014855.3(AP5Z1):c.1595+8G>A
NM_014855.3(AP5Z1):c.1595+8del rs2115120465
NM_014855.3(AP5Z1):c.1596-12_1596-11del
NM_014855.3(AP5Z1):c.1596-19G>A
NM_014855.3(AP5Z1):c.1596-20C>A
NM_014855.3(AP5Z1):c.1596-20C>T
NM_014855.3(AP5Z1):c.1596-3C>T
NM_014855.3(AP5Z1):c.1596-5C>T
NM_014855.3(AP5Z1):c.1606C>T (p.Leu536Phe)
NM_014855.3(AP5Z1):c.1632C>T (p.Ala544=)
NM_014855.3(AP5Z1):c.1635C>G (p.Gly545=)
NM_014855.3(AP5Z1):c.1635C>T (p.Gly545=)
NM_014855.3(AP5Z1):c.1643G>A (p.Arg548His) rs200224845
NM_014855.3(AP5Z1):c.1643G>T (p.Arg548Leu)
NM_014855.3(AP5Z1):c.1650C>G (p.Ala550=)
NM_014855.3(AP5Z1):c.1661A>C (p.Gln554Pro)
NM_014855.3(AP5Z1):c.1665C>G (p.Ala555=) rs761290075
NM_014855.3(AP5Z1):c.1673C>T (p.Thr558Met)
NM_014855.3(AP5Z1):c.1674G>A (p.Thr558=)
NM_014855.3(AP5Z1):c.1674G>T (p.Thr558=) rs374928584
NM_014855.3(AP5Z1):c.1686A>G (p.Ala562=)
NM_014855.3(AP5Z1):c.1689C>A (p.Phe563Leu) rs757247884
NM_014855.3(AP5Z1):c.1707+11_1707+12delinsCC
NM_014855.3(AP5Z1):c.1707+16G>A
NM_014855.3(AP5Z1):c.1707+1G>A
NM_014855.3(AP5Z1):c.1707+25dup rs529746844
NM_014855.3(AP5Z1):c.1707+5G>A
NM_014855.3(AP5Z1):c.1708-18C>T
NM_014855.3(AP5Z1):c.1708-19T>G
NM_014855.3(AP5Z1):c.1708-3dup
NM_014855.3(AP5Z1):c.1708-6C>T
NM_014855.3(AP5Z1):c.1719del (p.Ser574fs) rs1562413480
NM_014855.3(AP5Z1):c.1728C>A (p.Ile576=) rs550686881
NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=) rs773950276
NM_014855.3(AP5Z1):c.1741C>T (p.Leu581=)
NM_014855.3(AP5Z1):c.1766C>G (p.Ser589Trp)
NM_014855.3(AP5Z1):c.1767G>A (p.Ser589=) rs369091114
NM_014855.3(AP5Z1):c.1767G>C (p.Ser589=) rs369091114
NM_014855.3(AP5Z1):c.1767G>T (p.Ser589=) rs369091114
NM_014855.3(AP5Z1):c.1768C>T (p.Leu590Phe)
NM_014855.3(AP5Z1):c.1776G>A (p.Pro592=)
NM_014855.3(AP5Z1):c.179+3G>A
NM_014855.3(AP5Z1):c.1794C>A (p.Ala598=)
NM_014855.3(AP5Z1):c.1794C>G (p.Ala598=) rs374673921
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=) rs374673921
NM_014855.3(AP5Z1):c.180-16G>A
NM_014855.3(AP5Z1):c.180-19C>T
NM_014855.3(AP5Z1):c.180-3C>T
NM_014855.3(AP5Z1):c.1803C>G (p.His601Gln) rs1562413667
NM_014855.3(AP5Z1):c.1805+11C>T
NM_014855.3(AP5Z1):c.1805+13T>C
NM_014855.3(AP5Z1):c.1805+16G>A
NM_014855.3(AP5Z1):c.1805+20C>G
NM_014855.3(AP5Z1):c.1805+7C>T
NM_014855.3(AP5Z1):c.1805+8C>G
NM_014855.3(AP5Z1):c.1806-12C>G
NM_014855.3(AP5Z1):c.1806-12C>T rs78959612
NM_014855.3(AP5Z1):c.1806-1G>C
NM_014855.3(AP5Z1):c.1806-6_1818del
NM_014855.3(AP5Z1):c.1839G>T (p.Thr613=)
NM_014855.3(AP5Z1):c.1850C>G (p.Ser617Cys) rs1583241907
NM_014855.3(AP5Z1):c.1850C>T (p.Ser617Phe) rs1583241907
NM_014855.3(AP5Z1):c.1854G>C (p.Leu618=) rs1000978059
NM_014855.3(AP5Z1):c.1866G>T (p.Leu622=)
NM_014855.3(AP5Z1):c.1872A>G (p.Arg624=)
NM_014855.3(AP5Z1):c.1873G>A (p.Asp625Asn) rs1781728649
NM_014855.3(AP5Z1):c.1879C>T (p.Leu627=)
NM_014855.3(AP5Z1):c.1890G>A (p.Leu630=)
NM_014855.3(AP5Z1):c.1893C>T (p.Gly631=)
NM_014855.3(AP5Z1):c.1896C>T (p.Ser632=)
NM_014855.3(AP5Z1):c.1897G>A (p.Val633Met)
NM_014855.3(AP5Z1):c.1906C>G (p.Leu636Val) rs867457810
NM_014855.3(AP5Z1):c.1920G>A (p.Ala640=) rs369767394
NM_014855.3(AP5Z1):c.1920G>C (p.Ala640=)
NM_014855.3(AP5Z1):c.1920G>T (p.Ala640=)
NM_014855.3(AP5Z1):c.1923C>G (p.Ser641Arg) rs773754717
NM_014855.3(AP5Z1):c.1923C>T (p.Ser641=) rs773754717
NM_014855.3(AP5Z1):c.1926C>T (p.Leu642=)
NM_014855.3(AP5Z1):c.1938+12G>A
NM_014855.3(AP5Z1):c.1938+18C>T
NM_014855.3(AP5Z1):c.1938+8G>A
NM_014855.3(AP5Z1):c.1938+9G>C
NM_014855.3(AP5Z1):c.1939-11C>A rs377395124
NM_014855.3(AP5Z1):c.1939-11C>T
NM_014855.3(AP5Z1):c.1939-16_1939-15del
NM_014855.3(AP5Z1):c.1939-5C>T
NM_014855.3(AP5Z1):c.1939-6del
NM_014855.3(AP5Z1):c.1950C>T (p.Ile650=)
NM_014855.3(AP5Z1):c.1954G>T (p.Glu652Ter)
NM_014855.3(AP5Z1):c.1955A>G (p.Glu652Gly)
NM_014855.3(AP5Z1):c.195C>G (p.Cys65Trp) rs376335137
NM_014855.3(AP5Z1):c.1965G>C (p.Ser655=) rs543467648
NM_014855.3(AP5Z1):c.196G>A (p.Val66Ile)
NM_014855.3(AP5Z1):c.1990G>A (p.Val664Met)
NM_014855.3(AP5Z1):c.200A>T (p.Asp67Val)
NM_014855.3(AP5Z1):c.2010C>T (p.Phe670=)
NM_014855.3(AP5Z1):c.2016A>G (p.Glu672=)
NM_014855.3(AP5Z1):c.2025G>A (p.Glu675=) rs758146937
NM_014855.3(AP5Z1):c.2033T>A (p.Leu678Gln)
NM_014855.3(AP5Z1):c.2037C>G (p.Phe679Leu)
NM_014855.3(AP5Z1):c.2043C>T (p.Val681=)
NM_014855.3(AP5Z1):c.2049G>A (p.Gln683=)
NM_014855.3(AP5Z1):c.2061T>C (p.Ser687=)
NM_014855.3(AP5Z1):c.2079_2091del (p.Cys693fs)
NM_014855.3(AP5Z1):c.2079_2100del (p.Cys693_Pro694insTer) rs2115129514
NM_014855.3(AP5Z1):c.2079del (p.Gln696fs)
NM_014855.3(AP5Z1):c.2079dup (p.Pro694fs)
NM_014855.3(AP5Z1):c.2085C>T (p.Pro695=) rs746736951
NM_014855.3(AP5Z1):c.2086dup (p.Gln696fs) rs771683676
NM_014855.3(AP5Z1):c.2088G>A (p.Gln696=)
NM_014855.3(AP5Z1):c.2097C>T (p.Thr699=)
NM_014855.3(AP5Z1):c.209A>T (p.Gln70Leu) rs2115103040
NM_014855.3(AP5Z1):c.2105T>C (p.Met702Thr)
NM_014855.3(AP5Z1):c.2105_2116dup (p.Met702_Leu705dup) rs746548308
NM_014855.3(AP5Z1):c.210_231del (p.Gln70fs) rs1562404571
NM_014855.3(AP5Z1):c.2111C>T (p.Thr704Met)
NM_014855.3(AP5Z1):c.2112G>A (p.Thr704=) rs765844025
NM_014855.3(AP5Z1):c.2117C>G (p.Thr706Arg) rs752688603
NM_014855.3(AP5Z1):c.2117C>T (p.Thr706Met)
NM_014855.3(AP5Z1):c.2130C>A (p.Ser710=)
NM_014855.3(AP5Z1):c.2130C>T (p.Ser710=)
NM_014855.3(AP5Z1):c.2131C>T (p.Arg711Trp) rs113184057
NM_014855.3(AP5Z1):c.2142T>G (p.Asp714Glu) rs1781744978
NM_014855.3(AP5Z1):c.2145G>A (p.Leu715=)
NM_014855.3(AP5Z1):c.2145G>T (p.Leu715=)
NM_014855.3(AP5Z1):c.2151C>T (p.Pro717=) rs1781745482
NM_014855.3(AP5Z1):c.2153+13G>A
NM_014855.3(AP5Z1):c.2153+8G>A rs189564026
NM_014855.3(AP5Z1):c.2153+8G>C rs189564026
NM_014855.3(AP5Z1):c.2154-15A>T
NM_014855.3(AP5Z1):c.2154-16G>A
NM_014855.3(AP5Z1):c.2154-16G>C rs1562415433
NM_014855.3(AP5Z1):c.2154-18G>A
NM_014855.3(AP5Z1):c.2154-5C>T
NM_014855.3(AP5Z1):c.2155G>A (p.Ala719Thr) rs780512257
NM_014855.3(AP5Z1):c.2184C>T (p.Thr728=)
NM_014855.3(AP5Z1):c.2185del (p.Leu729fs) rs1326802596
NM_014855.3(AP5Z1):c.2196T>C (p.Ser732=) rs1472223606
NM_014855.3(AP5Z1):c.2198C>T (p.Pro733Leu)
NM_014855.3(AP5Z1):c.2199A>T (p.Pro733=)
NM_014855.3(AP5Z1):c.2202C>A (p.Ala734=)
NM_014855.3(AP5Z1):c.2206A>G (p.Ser736Gly) rs1562415549
NM_014855.3(AP5Z1):c.2209_2220del (p.Ser737_Ser740del) rs139155501
NM_014855.3(AP5Z1):c.2213C>T (p.Thr738Met) rs1781757996
NM_014855.3(AP5Z1):c.2214G>A (p.Thr738=)
NM_014855.3(AP5Z1):c.2220C>T (p.Ser740=)
NM_014855.3(AP5Z1):c.2221G>C (p.Glu741Gln)
NM_014855.3(AP5Z1):c.2222AGG[1] (p.Glu742del)
NM_014855.3(AP5Z1):c.2239A>C (p.Ile747Leu)
NM_014855.3(AP5Z1):c.2241C>G (p.Ile747Met)
NM_014855.3(AP5Z1):c.2243G>A (p.Arg748His)
NM_014855.3(AP5Z1):c.2248C>T (p.Arg750Trp) rs376075136
NM_014855.3(AP5Z1):c.2253C>T (p.Ala751=)
NM_014855.3(AP5Z1):c.2268C>T (p.Thr756=)
NM_014855.3(AP5Z1):c.2281C>G (p.Pro761Ala) rs768616888
NM_014855.3(AP5Z1):c.2283T>G (p.Pro761=)
NM_014855.3(AP5Z1):c.22A>C (p.Ser8Arg) rs1583222163
NM_014855.3(AP5Z1):c.2301G>A (p.Val767=)
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala) rs188569082
NM_014855.3(AP5Z1):c.2312G>A (p.Ser771Asn)
NM_014855.3(AP5Z1):c.2328C>A (p.Ser776Arg) rs192794637
NM_014855.3(AP5Z1):c.2339A>C (p.His780Pro) rs763182775
NM_014855.3(AP5Z1):c.2355G>A (p.Thr785=)
NM_014855.3(AP5Z1):c.2361G>A (p.Leu787=) rs878854988
NM_014855.3(AP5Z1):c.2363_2374del (p.Pro788_Leu791del) rs759647835
NM_014855.3(AP5Z1):c.2368_2373del (p.Ala790_Leu791del)
NM_014855.3(AP5Z1):c.2374C>T (p.Arg792Cys)
NM_014855.3(AP5Z1):c.2379G>A (p.Thr793=)
NM_014855.3(AP5Z1):c.238G>A (p.Glu80Lys) rs199577559
NM_014855.3(AP5Z1):c.2391G>A (p.Leu797=)
NM_014855.3(AP5Z1):c.2394G>A (p.Val798=)
NM_014855.3(AP5Z1):c.2394G>T (p.Val798=)
NM_014855.3(AP5Z1):c.2396A>G (p.Glu799Gly)
NM_014855.3(AP5Z1):c.2406C>T (p.Ala802=)
NM_014855.3(AP5Z1):c.262G>A (p.Ala88Thr)
NM_014855.3(AP5Z1):c.282C>T (p.Ser94=)
NM_014855.3(AP5Z1):c.283C>T (p.Pro95Ser)
NM_014855.3(AP5Z1):c.302T>C (p.Leu101Pro) rs1781386835
NM_014855.3(AP5Z1):c.317C>T (p.Thr106Met)
NM_014855.3(AP5Z1):c.318G>C (p.Thr106=)
NM_014855.3(AP5Z1):c.324C>T (p.Asn108=) rs1307463422
NM_014855.3(AP5Z1):c.355_358dup (p.Leu120fs) rs1554257381
NM_014855.3(AP5Z1):c.357C>G (p.Leu119=)
NM_014855.3(AP5Z1):c.361G>A (p.Ala121Thr) rs1181668776
NM_014855.3(AP5Z1):c.362C>T (p.Ala121Val)
NM_014855.3(AP5Z1):c.366+19C>T
NM_014855.3(AP5Z1):c.378C>T (p.Asn126=) rs775332430
NM_014855.3(AP5Z1):c.379G>C (p.Glu127Gln) rs115454162
NM_014855.3(AP5Z1):c.383A>T (p.Glu128Val) rs1781435214
NM_014855.3(AP5Z1):c.41+15C>T
NM_014855.3(AP5Z1):c.41+18C>A
NM_014855.3(AP5Z1):c.41+19C>T
NM_014855.3(AP5Z1):c.41+5G>T
NM_014855.3(AP5Z1):c.41+812_970del
NM_014855.3(AP5Z1):c.41+8_41+9del
NM_014855.3(AP5Z1):c.41+9G>A
NM_014855.3(AP5Z1):c.416C>T (p.Ala139Val)
NM_014855.3(AP5Z1):c.420G>A (p.Leu140=)
NM_014855.3(AP5Z1):c.438G>A (p.Glu146=)
NM_014855.3(AP5Z1):c.465C>T (p.Pro155=) rs758859483
NM_014855.3(AP5Z1):c.466G>A (p.Val156Ile)
NM_014855.3(AP5Z1):c.480C>T (p.Val160=)
NM_014855.3(AP5Z1):c.487C>T (p.Leu163Phe)
NM_014855.3(AP5Z1):c.495G>A (p.Pro165=)
NM_014855.3(AP5Z1):c.500C>T (p.Thr167Ile)
NM_014855.3(AP5Z1):c.511+5G>A rs759729051
NM_014855.3(AP5Z1):c.511+8G>A
NM_014855.3(AP5Z1):c.511+9G>T
NM_014855.3(AP5Z1):c.512-13C>T
NM_014855.3(AP5Z1):c.526C>G (p.Leu176Val)
NM_014855.3(AP5Z1):c.546C>T (p.Asp182=)
NM_014855.3(AP5Z1):c.559G>A (p.Ala187Thr)
NM_014855.3(AP5Z1):c.596T>G (p.Phe199Cys)
NM_014855.3(AP5Z1):c.596TCT[1] (p.Phe200del) rs759357796
NM_014855.3(AP5Z1):c.612G>A (p.Arg204=)
NM_014855.3(AP5Z1):c.615C>T (p.Ala205=)
NM_014855.3(AP5Z1):c.621+11G>T
NM_014855.3(AP5Z1):c.621+18C>G
NM_014855.3(AP5Z1):c.622-7C>T rs1332740790
NM_014855.3(AP5Z1):c.628C>A (p.Pro210Thr) rs773542837
NM_014855.3(AP5Z1):c.62T>G (p.Leu21Arg)
NM_014855.3(AP5Z1):c.630C>T (p.Pro210=)
NM_014855.3(AP5Z1):c.636C>G (p.Thr212=)
NM_014855.3(AP5Z1):c.652G>T (p.Val218Leu)
NM_014855.3(AP5Z1):c.670dup (p.Thr224fs)
NM_014855.3(AP5Z1):c.67A>T (p.Lys23Ter)
NM_014855.3(AP5Z1):c.682A>G (p.Ser228Gly)
NM_014855.3(AP5Z1):c.685G>A (p.Gly229Ser)
NM_014855.3(AP5Z1):c.696C>A (p.Phe232Leu) rs1361563941
NM_014855.3(AP5Z1):c.699A>G (p.Thr233=) rs761636459
NM_014855.3(AP5Z1):c.701A>T (p.Asp234Val) rs767413099
NM_014855.3(AP5Z1):c.703G>A (p.Asp235Asn)
NM_014855.3(AP5Z1):c.704del (p.Asp235fs)
NM_014855.3(AP5Z1):c.706C>T (p.Gln236Ter) rs988434253
NM_014855.3(AP5Z1):c.717C>T (p.Asn239=)
NM_014855.3(AP5Z1):c.725C>T (p.Ala242Val) rs781388706
NM_014855.3(AP5Z1):c.731C>G (p.Ser244Cys)
NM_014855.3(AP5Z1):c.732T>C (p.Ser244=)
NM_014855.3(AP5Z1):c.739C>T (p.Arg247Trp) rs768288736
NM_014855.3(AP5Z1):c.740G>A (p.Arg247Gln) rs774068163
NM_014855.3(AP5Z1):c.760G>T (p.Gly254Cys) rs772318205
NM_014855.3(AP5Z1):c.766G>C (p.Glu256Gln)
NM_014855.3(AP5Z1):c.775G>A (p.Gly259Ser)
NM_014855.3(AP5Z1):c.790+10G>A rs2115109800
NM_014855.3(AP5Z1):c.791-3C>T rs1480152137
NM_014855.3(AP5Z1):c.791-5C>G
NM_014855.3(AP5Z1):c.791-6C>T
NM_014855.3(AP5Z1):c.80G>A (p.Arg27Gln) rs768361738
NM_014855.3(AP5Z1):c.815C>G (p.Ser272Cys) rs745607941
NM_014855.3(AP5Z1):c.816C>T (p.Ser272=)
NM_014855.3(AP5Z1):c.822G>C (p.Leu274=)
NM_014855.3(AP5Z1):c.825G>A (p.Ser275=)
NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro) rs554060393
NM_014855.3(AP5Z1):c.838A>G (p.Thr280Ala) rs554060393
NM_014855.3(AP5Z1):c.853C>T (p.Arg285Cys)
NM_014855.3(AP5Z1):c.863C>T (p.Pro288Leu)
NM_014855.3(AP5Z1):c.868del (p.Arg290fs) rs756556933
NM_014855.3(AP5Z1):c.873G>A (p.Glu291=)
NM_014855.3(AP5Z1):c.896_902dup (p.Cys301Ter)
NM_014855.3(AP5Z1):c.908G>A (p.Arg303His)
NM_014855.3(AP5Z1):c.913A>C (p.Ile305Leu)
NM_014855.3(AP5Z1):c.927C>T (p.Asn309=)
NM_014855.3(AP5Z1):c.929G>C (p.Arg310Pro)
NM_014855.3(AP5Z1):c.931+15del
NM_014855.3(AP5Z1):c.931+1G>A rs1583232513
NM_014855.3(AP5Z1):c.932-12C>T
NM_014855.3(AP5Z1):c.932-19C>G
NM_014855.3(AP5Z1):c.932-19C>T
NM_014855.3(AP5Z1):c.932-7C>A
NM_014855.3(AP5Z1):c.936C>G (p.Ala312=)
NM_014855.3(AP5Z1):c.950dup (p.Asp317fs)
NM_014855.3(AP5Z1):c.952T>G (p.Ser318Ala)
NM_014855.3(AP5Z1):c.954C>T (p.Ser318=)
NM_014855.3(AP5Z1):c.955G>A (p.Asp319Asn)
NM_014855.3(AP5Z1):c.960G>C (p.Leu320=)
NM_014855.3(AP5Z1):c.969+14G>A
NM_014855.3(AP5Z1):c.969+17C>T
NM_014855.3(AP5Z1):c.969+18A>G
NM_014855.3(AP5Z1):c.969+3_969+6dup rs748280348
NM_014855.3(AP5Z1):c.970-13C>G
NM_014855.3(AP5Z1):c.970-1G>A
NM_014855.3(AP5Z1):c.970-2A>G
NM_014855.3(AP5Z1):c.970-2_983del rs1562408256
NM_014855.3(AP5Z1):c.970T>C (p.Cys324Arg) rs938469146
NM_014855.3(AP5Z1):c.972C>G (p.Cys324Trp) rs1583233186
NM_014855.3(AP5Z1):c.984C>G (p.Ala328=) rs763042987
NM_014855.3(AP5Z1):c.988C>G (p.Leu330Val)
NM_014855.3(AP5Z1):c.988C>T (p.Leu330=) rs376680652
NM_014855.3(AP5Z1):c.98A>G (p.Gln33Arg)
NM_014946.3(SPAST):c.(?_1729)_(1851_?)del
NM_014946.3(SPAST):c.1494-?_1728+?del
NM_014946.4(SPAST):c.1003A>C (p.Asn335His)
NM_014946.4(SPAST):c.1004+16T>C
NM_014946.4(SPAST):c.1004+17A>G
NM_014946.4(SPAST):c.1004+1G>C rs1553315236
NM_014946.4(SPAST):c.1004+2T>G rs1553315240
NM_014946.4(SPAST):c.1004+3_1004+6del rs1553315234
NM_014946.4(SPAST):c.1004+5G>C
NM_014946.4(SPAST):c.1005-16A>C
NM_014946.4(SPAST):c.1005-1G>A rs1553315318
NM_014946.4(SPAST):c.1005-1G>T rs1553315318
NM_014946.4(SPAST):c.100C>A (p.Pro34Thr)
NM_014946.4(SPAST):c.1011_1012dup (p.Ala338fs) rs2148734474
NM_014946.4(SPAST):c.1016T>C (p.Val339Ala)
NM_014946.4(SPAST):c.1018_1022del (p.Val339_Lys340insTer) rs1553315321
NM_014946.4(SPAST):c.102C>T (p.Pro34=)
NM_014946.4(SPAST):c.102_122dup (p.Pro41_Pro42insAlaAlaGlyProAlaProPro)
NM_014946.4(SPAST):c.1032A>G (p.Ile344Met)
NM_014946.4(SPAST):c.1033G>C (p.Ala345Pro)
NM_014946.4(SPAST):c.1035T>G (p.Ala345=)
NM_014946.4(SPAST):c.1038T>C (p.Gly346=)
NM_014946.4(SPAST):c.1039C>T (p.Gln347Ter) rs1553315329
NM_014946.4(SPAST):c.1040A>C (p.Gln347Pro) rs1678825469
NM_014946.4(SPAST):c.1047G>T (p.Leu349Phe)
NM_014946.4(SPAST):c.1048G>A (p.Ala350Thr) rs1553315333
NM_014946.4(SPAST):c.1048G>T (p.Ala350Ser)
NM_014946.4(SPAST):c.1049C>T (p.Ala350Val) rs1060502231
NM_014946.4(SPAST):c.1063C>T (p.Gln355Ter) rs1678826642
NM_014946.4(SPAST):c.1066G>T (p.Glu356Ter)
NM_014946.4(SPAST):c.1067A>G (p.Glu356Gly) rs1553315345
NM_014946.4(SPAST):c.1069del (p.Ile357fs) rs2148734579
NM_014946.4(SPAST):c.1071del (p.Ile357fs) rs2148734583
NM_014946.4(SPAST):c.1081C>T (p.Pro361Ser) rs1553315350
NM_014946.4(SPAST):c.1082_1085del (p.Pro361fs)
NM_014946.4(SPAST):c.1083T>C (p.Pro361=)
NM_014946.4(SPAST):c.1092G>A (p.Arg364=)
NM_014946.4(SPAST):c.1096G>T (p.Glu366Ter)
NM_014946.4(SPAST):c.1098+1G>A rs1377020559
NM_014946.4(SPAST):c.1098+6A>C
NM_014946.4(SPAST):c.1098G>A (p.Glu366=)
NM_014946.4(SPAST):c.1099-12T>C rs1239734940
NM_014946.4(SPAST):c.1099-17A>C
NM_014946.4(SPAST):c.1099-1G>C
NM_014946.4(SPAST):c.1099-20C>A
NM_014946.4(SPAST):c.1099-20C>G
NM_014946.4(SPAST):c.1099-2A>C
NM_014946.4(SPAST):c.1099-2A>G
NM_014946.4(SPAST):c.1099-4T>G
NM_014946.4(SPAST):c.10C>T (p.Pro4Ser) rs937319046
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser) rs1553316799
NM_014946.4(SPAST):c.1107A>G (p.Thr369=) rs1573139443
NM_014946.4(SPAST):c.1108G>T (p.Gly370Trp) rs2148744904
NM_014946.4(SPAST):c.1112T>C (p.Leu371Pro)
NM_014946.4(SPAST):c.1115G>T (p.Arg372Ile) rs864622327
NM_014946.4(SPAST):c.1116A>C (p.Arg372Ser) rs1425976342
NM_014946.4(SPAST):c.1117G>C (p.Ala373Pro) rs1679214464
NM_014946.4(SPAST):c.1118del (p.Ala373fs) rs2148744935
NM_014946.4(SPAST):c.1119T>C (p.Ala373=)
NM_014946.4(SPAST):c.1129G>C (p.Gly377Arg) rs1679215171
NM_014946.4(SPAST):c.1132C>G (p.Leu378Val) rs2148744957
NM_014946.4(SPAST):c.1134_1136dup (p.Leu380_Phe381insLeu)
NM_014946.4(SPAST):c.1138C>T (p.Leu380Phe)
NM_014946.4(SPAST):c.1139T>C (p.Leu380Pro) rs1553316819
NM_014946.4(SPAST):c.1139_1160del (p.Leu380fs) rs2148744982
NM_014946.4(SPAST):c.113C>T (p.Pro38Leu) rs1041662261
NM_014946.4(SPAST):c.1141T>G (p.Phe381Val) rs1553316821
NM_014946.4(SPAST):c.1144G>T (p.Gly382Cys)
NM_014946.4(SPAST):c.1145G>C (p.Gly382Ala) rs2148744995
NM_014946.4(SPAST):c.1149A>G (p.Pro383=)
NM_014946.4(SPAST):c.1149A>T (p.Pro383=)
NM_014946.4(SPAST):c.1151C>G (p.Pro384Arg) rs1573139616
NM_014946.4(SPAST):c.1151C>T (p.Pro384Leu) rs1573139616
NM_014946.4(SPAST):c.1153G>A (p.Gly385Arg)
NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser) rs121908514
NM_014946.4(SPAST):c.1159G>A (p.Gly387Arg) rs1679217117
NM_014946.4(SPAST):c.1163A>G (p.Lys388Arg) rs1553316837
NM_014946.4(SPAST):c.1164G>C (p.Lys388Asn) rs1553316838
NM_014946.4(SPAST):c.1164G>T (p.Lys388Asn) rs1553316838
NM_014946.4(SPAST):c.1165A>G (p.Thr389Ala) rs786204132
NM_014946.4(SPAST):c.1166C>T (p.Thr389Ile)
NM_014946.4(SPAST):c.1168A>G (p.Met390Val) rs797044850
NM_014946.4(SPAST):c.1170G>A (p.Met390Ile) rs1131691971
NM_014946.4(SPAST):c.1173+185_1245del
NM_014946.4(SPAST):c.1173+1G>A rs1060502226
NM_014946.4(SPAST):c.1173+20T>C rs1196646723
NM_014946.4(SPAST):c.1173+2dup
NM_014946.4(SPAST):c.1173+7G>T
NM_014946.4(SPAST):c.1173G>A (p.Leu391=) rs1679218212
NM_014946.4(SPAST):c.1173_1173+1insT
NM_014946.4(SPAST):c.1174-15T>C
NM_014946.4(SPAST):c.1174-16C>T
NM_014946.4(SPAST):c.1174-19G>T
NM_014946.4(SPAST):c.1174-1G>A rs1553317024
NM_014946.4(SPAST):c.1174-1G>C rs1553317024
NM_014946.4(SPAST):c.1174-5T>C rs1271850172
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro) rs1558331867
NM_014946.4(SPAST):c.117C>G (p.Ala39=)
NM_014946.4(SPAST):c.1180del (p.Ala394fs) rs1679263902
NM_014946.4(SPAST):c.1186G>C (p.Ala396Pro)
NM_014946.4(SPAST):c.118C>T (p.Pro40Ser)
NM_014946.4(SPAST):c.1196C>G (p.Ser399Trp) rs1553317025
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1199del (p.Asn400fs)
NM_014946.4(SPAST):c.119C>T (p.Pro40Leu)
NM_014946.4(SPAST):c.11C>G (p.Pro4Arg)
NM_014946.4(SPAST):c.1206C>T (p.Thr402=)
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del) rs1553317028
NM_014946.4(SPAST):c.1209_1212del (p.Phe403fs) rs1553317029
NM_014946.4(SPAST):c.1209del (p.Phe404fs) rs1057520127
NM_014946.4(SPAST):c.120_121delinsAA (p.Pro41Thr)
NM_014946.4(SPAST):c.1210_1212del (p.Phe404del) rs1679265391
NM_014946.4(SPAST):c.1211T>C (p.Phe404Ser) rs1679265515
NM_014946.4(SPAST):c.1215_1219del (p.Asn405fs) rs1553317032
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.4(SPAST):c.1217T>C (p.Ile406Thr) rs1553317038
NM_014946.4(SPAST):c.1220G>A (p.Ser407Asn) rs1573142616
NM_014946.4(SPAST):c.1223C>T (p.Ala408Val) rs1553317043
NM_014946.4(SPAST):c.1224T>G (p.Ala408=)
NM_014946.4(SPAST):c.1225G>A (p.Ala409Thr) rs1064793273
NM_014946.4(SPAST):c.1226C>A (p.Ala409Glu) rs2148746390
NM_014946.4(SPAST):c.1228A>C (p.Ser410Arg) rs1679266894
NM_014946.4(SPAST):c.1229G>T (p.Ser410Ile)
NM_014946.4(SPAST):c.1232T>G (p.Leu411Ter)
NM_014946.4(SPAST):c.1237T>A (p.Ser413Thr) rs1679267183
NM_014946.4(SPAST):c.1238C>A (p.Ser413Ter) rs1553317045
NM_014946.4(SPAST):c.1238C>T (p.Ser413Leu) rs1553317045
NM_014946.4(SPAST):c.123G>T (p.Pro41=)
NM_014946.4(SPAST):c.1240A>C (p.Lys414Gln)
NM_014946.4(SPAST):c.1245+10_1245+11del rs755187805
NM_014946.4(SPAST):c.1245+19A>G
NM_014946.4(SPAST):c.1245+1G>C
NM_014946.4(SPAST):c.1245+1G>T
NM_014946.4(SPAST):c.1245+2_1245+4dup
NM_014946.4(SPAST):c.1245+4A>G rs587777755
NM_014946.4(SPAST):c.1245+5G>A rs1553317049
NM_014946.4(SPAST):c.1245+6T>G rs1553317050
NM_014946.4(SPAST):c.1245del (p.Lys414_Tyr415insTer) rs863224513
NM_014946.4(SPAST):c.1246-21_1246-14del
NM_014946.4(SPAST):c.1246G>A (p.Val416Met)
NM_014946.4(SPAST):c.1247T>C (p.Val416Ala) rs1558336489
NM_014946.4(SPAST):c.124C>G (p.Pro42Ala)
NM_014946.4(SPAST):c.1250G>A (p.Gly417Glu) rs1553318161
NM_014946.4(SPAST):c.1250G>T (p.Gly417Val) rs1553318161
NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys) rs1553318164
NM_014946.4(SPAST):c.1252G>T (p.Glu418Ter) rs1553318164
NM_014946.4(SPAST):c.1253_1255del (p.Glu418del) rs1558336544
NM_014946.4(SPAST):c.1255G>A (p.Gly419Arg)
NM_014946.4(SPAST):c.1256G>T (p.Gly419Val)
NM_014946.4(SPAST):c.1258G>C (p.Glu420Gln) rs1558336551
NM_014946.4(SPAST):c.1260G>T (p.Glu420Asp) rs1679543195
NM_014946.4(SPAST):c.1261A>G (p.Lys421Glu) rs1558336556
NM_014946.4(SPAST):c.1266G>T (p.Leu422Phe) rs1679543653
NM_014946.4(SPAST):c.126C>G (p.Pro42=) rs755151658
NM_014946.4(SPAST):c.1273G>C (p.Ala425Pro)
NM_014946.4(SPAST):c.1276C>G (p.Leu426Val) rs1060502227
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.4(SPAST):c.127G>C (p.Glu43Gln)
NM_014946.4(SPAST):c.127G>T (p.Glu43Ter) rs573642949
NM_014946.4(SPAST):c.1281T>G (p.Phe427Leu)
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.4(SPAST):c.1291del (p.Arg431fs)
NM_014946.4(SPAST):c.129G>A (p.Glu43=)
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp) rs542793579
NM_014946.4(SPAST):c.12G>T (p.Pro4=)
NM_014946.4(SPAST):c.1300C>T (p.Gln434Ter)
NM_014946.4(SPAST):c.1304C>T (p.Pro435Leu) rs1553318182
NM_014946.4(SPAST):c.1306_1308del (p.Ser436del) rs2148753695
NM_014946.4(SPAST):c.1307C>T (p.Ser436Phe) rs1553318184
NM_014946.4(SPAST):c.131C>A (p.Ser44Ter)
NM_014946.4(SPAST):c.1321+13T>C
NM_014946.4(SPAST):c.1321+19A>C
NM_014946.4(SPAST):c.1321+20C>T
NM_014946.4(SPAST):c.1321+2_1321+3insTT
NM_014946.4(SPAST):c.1321+3A>G
NM_014946.4(SPAST):c.1322-11A>G
NM_014946.4(SPAST):c.1322-13G>A
NM_014946.4(SPAST):c.1322-16C>G
NM_014946.4(SPAST):c.1322-19A>C rs748912757
NM_014946.4(SPAST):c.1322-1G>T rs1365753930
NM_014946.4(SPAST):c.1322-30_1322-2del rs1553318205
NM_014946.4(SPAST):c.1322-4C>T
NM_014946.4(SPAST):c.1322-7C>T
NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly) rs121908512
NM_014946.4(SPAST):c.1322A>T (p.Asp441Val) rs121908512
NM_014946.4(SPAST):c.1324G>A (p.Glu442Lys) rs1553318214
NM_014946.4(SPAST):c.1325A>T (p.Glu442Val) rs1553318215
NM_014946.4(SPAST):c.1329T>G (p.Val443=)
NM_014946.4(SPAST):c.132G>T (p.Ser44=)
NM_014946.4(SPAST):c.1331A>G (p.Asp444Gly) rs886041597
NM_014946.4(SPAST):c.1331dup (p.Asp444fs)
NM_014946.4(SPAST):c.1332T>C (p.Asp444=)
NM_014946.4(SPAST):c.1334G>A (p.Ser445Asn) rs1131691838
NM_014946.4(SPAST):c.1339_1340del (p.Leu447fs) rs1679553611
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser) rs2148753950
NM_014946.4(SPAST):c.1340dup (p.Leu447fs)
NM_014946.4(SPAST):c.1343G>A (p.Cys448Tyr) rs121908510
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly) rs1553318223
NM_014946.4(SPAST):c.1348_1351del (p.Arg450fs)
NM_014946.4(SPAST):c.1349G>A (p.Arg450Lys) rs1679553997
NM_014946.4(SPAST):c.1350_1351del (p.Glu452fs) rs2148753972
NM_014946.4(SPAST):c.1359_1360dup (p.Glu454fs) rs1384312757
NM_014946.4(SPAST):c.135G>A (p.Pro45=) rs757100197
NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys) rs1553318230
NM_014946.4(SPAST):c.1361dup (p.His455fs) rs1573156283
NM_014946.4(SPAST):c.1363C>G (p.His455Asp) rs863224769
NM_014946.4(SPAST):c.1363C>T (p.His455Tyr)
NM_014946.4(SPAST):c.1366G>A (p.Asp456Asn) rs1330471269
NM_014946.4(SPAST):c.1368dup (p.Ala457fs) rs1573156341
NM_014946.4(SPAST):c.1372A>C (p.Ser458Arg)
NM_014946.4(SPAST):c.1374T>G (p.Ser458Arg) rs1036039694
NM_014946.4(SPAST):c.1375A>C (p.Arg459=)
NM_014946.4(SPAST):c.1375del (p.Arg459fs) rs2148754018
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1379G>A (p.Arg460His) rs1553318241
NM_014946.4(SPAST):c.1379G>T (p.Arg460Leu)
NM_014946.4(SPAST):c.138T>G (p.His46Gln)
NM_014946.4(SPAST):c.1390G>A (p.Glu464Lys) rs1679556566
NM_014946.4(SPAST):c.1390G>T (p.Glu464Ter) rs1679556566
NM_014946.4(SPAST):c.1391A>C (p.Glu464Ala)
NM_014946.4(SPAST):c.1392del (p.Glu464fs) rs1558336906
NM_014946.4(SPAST):c.1396C>G (p.Leu466Val) rs1553318252
NM_014946.4(SPAST):c.1398_1413+1dup rs1558336927
NM_014946.4(SPAST):c.1408G>C (p.Asp470His) rs1553318261
NM_014946.4(SPAST):c.1411G>T (p.Gly471Cys) rs1679558360
NM_014946.4(SPAST):c.1412G>A (p.Gly471Asp) rs1553318274
NM_014946.4(SPAST):c.1413+10G>A rs2148754141
NM_014946.4(SPAST):c.1413+10_1413+13del
NM_014946.4(SPAST):c.1413+19A>G
NM_014946.4(SPAST):c.1413+1G>A rs1553318276
NM_014946.4(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.4(SPAST):c.1413+5G>C rs1553318282
NM_014946.4(SPAST):c.1413+6T>G rs1553318284
NM_014946.4(SPAST):c.1414-15A>G
NM_014946.4(SPAST):c.1414-1G>C rs786204163
NM_014946.4(SPAST):c.1414-2A>T rs1553318304
NM_014946.4(SPAST):c.1414-6T>C
NM_014946.4(SPAST):c.1415T>G (p.Val472Gly)
NM_014946.4(SPAST):c.1417C>T (p.Gln473Ter) rs757130394
NM_014946.4(SPAST):c.1419G>A (p.Gln473=)
NM_014946.4(SPAST):c.142C>T (p.Arg48Trp)
NM_014946.4(SPAST):c.1432G>A (p.Asp478Asn) rs1191508807
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs) rs864622268
NM_014946.4(SPAST):c.1442_1443insA (p.Val482fs) rs1553318313
NM_014946.4(SPAST):c.1445T>C (p.Val482Ala) rs1417318347
NM_014946.4(SPAST):c.1448T>C (p.Met483Thr) rs1679565382
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg) rs1553318317
NM_014946.4(SPAST):c.1451G>A (p.Gly484Asp) rs1558337098
NM_014946.4(SPAST):c.1453G>C (p.Ala485Pro)
NM_014946.4(SPAST):c.1456A>C (p.Thr486Pro)
NM_014946.4(SPAST):c.1456A>G (p.Thr486Ala) rs1553318320
NM_014946.4(SPAST):c.1457C>T (p.Thr486Ile) rs1558337122
NM_014946.4(SPAST):c.1458_1459dup (p.Asn487fs) rs1558337136
NM_014946.4(SPAST):c.1459A>G (p.Asn487Asp) rs1553318323
NM_014946.4(SPAST):c.1461T>C (p.Asn487=)
NM_014946.4(SPAST):c.1461T>G (p.Asn487Lys)
NM_014946.4(SPAST):c.1462A>T (p.Arg488Trp) rs1553318329
NM_014946.4(SPAST):c.1466C>T (p.Pro489Leu) rs1553318331
NM_014946.4(SPAST):c.1468C>T (p.Gln490Ter) rs1553318336
NM_014946.4(SPAST):c.1475T>G (p.Leu492Arg)
NM_014946.4(SPAST):c.1477G>C (p.Asp493His) rs1060499939
NM_014946.4(SPAST):c.1480G>T (p.Glu494Ter)
NM_014946.4(SPAST):c.1483G>A (p.Ala495Thr) rs1060502228
NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser) rs1060502228
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val) rs1553318347
NM_014946.4(SPAST):c.1486G>C (p.Val496Leu) rs779662872
NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly) rs1553318350
NM_014946.4(SPAST):c.1493+1G>A rs1553318351
NM_014946.4(SPAST):c.1493+1G>T rs1553318351
NM_014946.4(SPAST):c.1493+2_1493+5del rs1558337180
NM_014946.4(SPAST):c.1493+8G>A
NM_014946.4(SPAST):c.1493+9A>C
NM_014946.4(SPAST):c.1493G>A (p.Arg498Lys)
NM_014946.4(SPAST):c.1494-15G>A
NM_014946.4(SPAST):c.1494-16G>A
NM_014946.4(SPAST):c.1494-1G>C rs1315245986
NM_014946.4(SPAST):c.1494-2A>C rs1218081251
NM_014946.4(SPAST):c.1494-2A>G rs1218081251
NM_014946.4(SPAST):c.1494-2A>T rs1218081251
NM_014946.4(SPAST):c.1494-3T>G
NM_014946.4(SPAST):c.1494-3del
NM_014946.4(SPAST):c.1494-3dup rs760322678
NM_014946.4(SPAST):c.1494-5T>G rs1553319072
NM_014946.4(SPAST):c.1494-9T>C
NM_014946.4(SPAST):c.1494G>C (p.Arg498Ser) rs1553319075
NM_014946.4(SPAST):c.1495C>A (p.Arg499Ser) rs121908511
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1499T>G (p.Phe500Cys) rs1679732057
NM_014946.4(SPAST):c.149T>C (p.Leu50Pro)
NM_014946.4(SPAST):c.1500C>G (p.Phe500Leu)
NM_014946.4(SPAST):c.1504A>G (p.Lys502Glu)
NM_014946.4(SPAST):c.1504A>T (p.Lys502Ter)
NM_014946.4(SPAST):c.1505A>C (p.Lys502Thr) rs1558339891
NM_014946.4(SPAST):c.1506del (p.Lys502fs) rs2148758252
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_014946.4(SPAST):c.1512A>G (p.Val504=)
NM_014946.4(SPAST):c.1514_1515del (p.Tyr505fs) rs1679732948
NM_014946.4(SPAST):c.1515T>C (p.Tyr505=)
NM_014946.4(SPAST):c.1525C>A (p.Pro509Thr) rs1553319092
NM_014946.4(SPAST):c.1525C>G (p.Pro509Ala) rs1553319092
NM_014946.4(SPAST):c.1525C>T (p.Pro509Ser)
NM_014946.4(SPAST):c.1526C>T (p.Pro509Leu) rs1443578852
NM_014946.4(SPAST):c.152A>G (p.Tyr51Cys) rs1356486929
NM_014946.4(SPAST):c.1535_1536+1del rs1558339948
NM_014946.4(SPAST):c.1536+17G>C rs201026422
NM_014946.4(SPAST):c.1536+1G>A
NM_014946.4(SPAST):c.1536+27del
NM_014946.4(SPAST):c.1536+27dup
NM_014946.4(SPAST):c.1536+2T>C
NM_014946.4(SPAST):c.1536+2dup rs1573165113
NM_014946.4(SPAST):c.1536+5G>A rs1679734284
NM_014946.4(SPAST):c.1536G>A (p.Glu512=) rs1553319093
NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp) rs1553319093
NM_014946.4(SPAST):c.1537-10T>G
NM_014946.4(SPAST):c.1537-11A>G rs549538513
NM_014946.4(SPAST):c.1537-1G>A rs1553319280
NM_014946.4(SPAST):c.1537-2A>C
NM_014946.4(SPAST):c.1537-2A>T
NM_014946.4(SPAST):c.1537-3C>G rs2148759356
NM_014946.4(SPAST):c.1537A>T (p.Thr513Ser) rs1553319281
NM_014946.4(SPAST):c.1538C>A (p.Thr513Lys)
NM_014946.4(SPAST):c.1538C>T (p.Thr513Ile) rs2148759367
NM_014946.4(SPAST):c.1539_1540del (p.Arg514fs) rs2148759370
NM_014946.4(SPAST):c.153C>G (p.Tyr51Ter) rs1462628095
NM_014946.4(SPAST):c.153C>T (p.Tyr51=)
NM_014946.4(SPAST):c.1540A>G (p.Arg514Gly) rs1553319286
NM_014946.4(SPAST):c.1550T>C (p.Leu517Ser) rs2148759388
NM_014946.4(SPAST):c.1550del (p.Leu517fs)
NM_014946.4(SPAST):c.1562T>A (p.Leu521Gln)
NM_014946.4(SPAST):c.1563del (p.Leu522fs)
NM_014946.4(SPAST):c.1565T>C (p.Leu522Ser)
NM_014946.4(SPAST):c.156T>G (p.Tyr52Ter) rs1553394497
NM_014946.4(SPAST):c.1573C>A (p.Gln525Lys)
NM_014946.4(SPAST):c.1573C>T (p.Gln525Ter) rs1553319296
NM_014946.4(SPAST):c.1574A>G (p.Gln525Arg) rs2148759426
NM_014946.4(SPAST):c.1577_1580del (p.Gly526fs) rs1553319298
NM_014946.4(SPAST):c.1583del (p.Pro528fs) rs1573167562
NM_014946.4(SPAST):c.1591C>T (p.Gln531Ter) rs2148759447
NM_014946.4(SPAST):c.1600C>A (p.Leu534Ile)
NM_014946.4(SPAST):c.1601T>C (p.Leu534Pro) rs1553319317
NM_014946.4(SPAST):c.1601del (p.Leu534fs) rs1553319318
NM_014946.4(SPAST):c.1614T>G (p.Ala538=)
NM_014946.4(SPAST):c.1614dup (p.Arg539Ter)
NM_014946.4(SPAST):c.1616+19G>C
NM_014946.4(SPAST):c.1616+1G>A rs1553319327
NM_014946.4(SPAST):c.1616+1G>C rs1553319327
NM_014946.4(SPAST):c.1617-15C>T
NM_014946.4(SPAST):c.1617-1G>A rs1553319526
NM_014946.4(SPAST):c.1617-1G>T
NM_014946.4(SPAST):c.1617-2A>G rs1553319524
NM_014946.4(SPAST):c.161C>G (p.Ser54Cys)
NM_014946.4(SPAST):c.1624G>C (p.Asp542His)
NM_014946.4(SPAST):c.1632C>A (p.Tyr544Ter)
NM_014946.4(SPAST):c.1632C>T (p.Tyr544=)
NM_014946.4(SPAST):c.1634C>T (p.Ser545Leu)
NM_014946.4(SPAST):c.1636G>C (p.Gly546Arg) rs2148760843
NM_014946.4(SPAST):c.1637G>A (p.Gly546Glu) rs786204057
NM_014946.4(SPAST):c.1637G>T (p.Gly546Val) rs786204057
NM_014946.4(SPAST):c.163T>C (p.Tyr55His)
NM_014946.4(SPAST):c.1641T>C (p.Ser547=)
NM_014946.4(SPAST):c.1643A>T (p.Asp548Val)
NM_014946.4(SPAST):c.1646T>A (p.Leu549Gln)
NM_014946.4(SPAST):c.1646T>C (p.Leu549Pro) rs1553319534
NM_014946.4(SPAST):c.1649C>T (p.Thr550Ile) rs1553319537
NM_014946.4(SPAST):c.164A>C (p.Tyr55Ser)
NM_014946.4(SPAST):c.1650_1672del (p.Ala551fs)
NM_014946.4(SPAST):c.1651G>C (p.Ala551Pro)
NM_014946.4(SPAST):c.1656G>A (p.Leu552=)
NM_014946.4(SPAST):c.165C>A (p.Tyr55Ter) rs368951498
NM_014946.4(SPAST):c.1664A>G (p.Asp555Gly)
NM_014946.4(SPAST):c.1664A>T (p.Asp555Val)
NM_014946.4(SPAST):c.1666G>C (p.Ala556Pro) rs1558341948
NM_014946.4(SPAST):c.166_175del (p.Tyr55_Pro56insTer) rs1553394509
NM_014946.4(SPAST):c.1672C>G (p.Leu558Val)
NM_014946.4(SPAST):c.1673T>C (p.Leu558Pro)
NM_014946.4(SPAST):c.1675G>C (p.Gly559Arg) rs878854992
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.4(SPAST):c.167C>G (p.Pro56Arg)
NM_014946.4(SPAST):c.167C>T (p.Pro56Leu) rs1676399509
NM_014946.4(SPAST):c.167dup (p.Leu57fs)
NM_014946.4(SPAST):c.1684C>G (p.Arg562Gly) rs121908518
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_014946.4(SPAST):c.1687+10C>A
NM_014946.4(SPAST):c.1687+2T>A
NM_014946.4(SPAST):c.1688-1G>A rs1573174147
NM_014946.4(SPAST):c.1688-2A>G rs587777752
NM_014946.4(SPAST):c.1688-3C>G
NM_014946.4(SPAST):c.168G>A (p.Pro56=)
NM_014946.4(SPAST):c.16G>T (p.Gly6Ter)
NM_014946.4(SPAST):c.1701dup (p.Gln568fs) rs2148762787
NM_014946.4(SPAST):c.1715T>C (p.Met572Thr) rs138146982
NM_014946.4(SPAST):c.1723del (p.Ser575fs)
NM_014946.4(SPAST):c.1724_1725insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNNNAAAAAAAAAAAAAAAAAAGAATATGTCTGCCAG (p.Ser575fs) rs2148762802
NM_014946.4(SPAST):c.1728+12T>C
NM_014946.4(SPAST):c.1728+14_1728+15insTC
NM_014946.4(SPAST):c.1728+16A>C
NM_014946.4(SPAST):c.1728+18_1728+19insGCAG
NM_014946.4(SPAST):c.1728+1G>A rs587777754
NM_014946.4(SPAST):c.1728+1G>T rs587777754
NM_014946.4(SPAST):c.1728+2T>C
NM_014946.4(SPAST):c.1728+2T>G rs1553319874
NM_014946.4(SPAST):c.1728G>A (p.Glu576=) rs1060502225
NM_014946.4(SPAST):c.1728G>T (p.Glu576Asp) rs1060502225
NM_014946.4(SPAST):c.1729-1G>A rs1064793976
NM_014946.4(SPAST):c.1729-20T>C
NM_014946.4(SPAST):c.1729-2A>G rs1553321194
NM_014946.4(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
NM_014946.4(SPAST):c.1740_1741delinsGT (p.Ile580_Arg581delinsMetTer)
NM_014946.4(SPAST):c.1740del (p.Arg581fs) rs1680184249
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter) rs778023258
NM_014946.4(SPAST):c.1742G>C (p.Arg581Pro) rs749484350
NM_014946.4(SPAST):c.1744T>C (p.Leu582=) rs886055962
NM_014946.4(SPAST):c.1752C>T (p.Asp584=)
NM_014946.4(SPAST):c.1755C>A (p.Phe585Leu) rs778602122
NM_014946.4(SPAST):c.1755C>T (p.Phe585=)
NM_014946.4(SPAST):c.1762_1785del (p.Ser588_Ser595del)
NM_014946.4(SPAST):c.1768A>G (p.Lys590Glu)
NM_014946.4(SPAST):c.1774del (p.Lys591_Ile592insTer) rs1680185365
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.4(SPAST):c.1775T>G (p.Ile592Arg)
NM_014946.4(SPAST):c.1776A>G (p.Ile592Met)
NM_014946.4(SPAST):c.1780C>T (p.Arg594Cys) rs1680185992
NM_014946.4(SPAST):c.1784G>A (p.Ser595Asn) rs2148769328
NM_014946.4(SPAST):c.1785C>G (p.Ser595Arg) rs145206063
NM_014946.4(SPAST):c.1796A>C (p.Gln599Pro)
NM_014946.4(SPAST):c.1797A>G (p.Gln599=)
NM_014946.4(SPAST):c.179G>A (p.Gly60Asp) rs1558605758
NM_014946.4(SPAST):c.17G>A (p.Gly6Glu)
NM_014946.4(SPAST):c.1815_1816insGA (p.Arg606fs)
NM_014946.4(SPAST):c.1816C>T (p.Arg606Cys)
NM_014946.4(SPAST):c.1839T>C (p.Asp613=)
NM_014946.4(SPAST):c.1840dup (p.Thr614fs)
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile) rs1573186691
NM_014946.4(SPAST):c.1844C>T (p.Thr615Ile)
NM_014946.4(SPAST):c.1849T>C (p.Ter617Gln)
NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu) rs1553321270
NM_014946.4(SPAST):c.188TGC[3] (p.Leu64_Arg65insLeu)
NM_014946.4(SPAST):c.189G>C (p.Leu63=)
NM_014946.4(SPAST):c.198G>C (p.Leu66Phe) rs2148685510
NM_014946.4(SPAST):c.199_202delinsATCC (p.Val67_Ala68delinsIlePro) rs1558605777
NM_014946.4(SPAST):c.19C>A (p.Arg7=) rs779449573
NM_014946.4(SPAST):c.19C>T (p.Arg7Ter)
NM_014946.4(SPAST):c.207C>T (p.Phe69=)
NM_014946.4(SPAST):c.207_222dup (p.Phe75fs)
NM_014946.4(SPAST):c.208C>A (p.His70Asn)
NM_014946.4(SPAST):c.209A>T (p.His70Leu)
NM_014946.4(SPAST):c.20G>T (p.Arg7Leu) rs750900931
NM_014946.4(SPAST):c.211C>T (p.Leu71=) rs2148685540
NM_014946.4(SPAST):c.212del (p.Leu71fs) rs2148685545
NM_014946.4(SPAST):c.217del (p.Leu73fs)
NM_014946.4(SPAST):c.219C>T (p.Leu73=)
NM_014946.4(SPAST):c.225C>A (p.Phe75Leu)
NM_014946.4(SPAST):c.232C>G (p.Leu78Val) rs1558605868
NM_014946.4(SPAST):c.232C>T (p.Leu78Phe)
NM_014946.4(SPAST):c.234C>A (p.Leu78=)
NM_014946.4(SPAST):c.237C>A (p.Cys79Ter)
NM_014946.4(SPAST):c.238C>T (p.Gln80Ter) rs1676403099
NM_014946.4(SPAST):c.23G>A (p.Gly8Glu)
NM_014946.4(SPAST):c.243C>A (p.Arg81=)
NM_014946.4(SPAST):c.24G>A (p.Gly8=)
NM_014946.4(SPAST):c.255C>T (p.Ala85=)
NM_014946.4(SPAST):c.259_260del (p.Met87fs) rs2148685612
NM_014946.4(SPAST):c.263C>A (p.Ala88Glu)
NM_014946.4(SPAST):c.269A>G (p.Lys90Arg)
NM_014946.4(SPAST):c.26A>G (p.Lys9Arg)
NM_014946.4(SPAST):c.277T>C (p.Ser93Pro) rs1156801351
NM_014946.4(SPAST):c.277T>G (p.Ser93Ala)
NM_014946.4(SPAST):c.27G>A (p.Lys9=)
NM_014946.4(SPAST):c.280G>A (p.Gly94Arg) rs750218565
NM_014946.4(SPAST):c.284C>T (p.Ala95Val) rs780016543
NM_014946.4(SPAST):c.285C>G (p.Ala95=) rs754540160
NM_014946.4(SPAST):c.285C>T (p.Ala95=) rs754540160
NM_014946.4(SPAST):c.286del (p.Ala96fs) rs1573028017
NM_014946.4(SPAST):c.293C>T (p.Ala98Val)
NM_014946.4(SPAST):c.295C>T (p.Pro99Ser)
NM_014946.4(SPAST):c.296C>T (p.Pro99Leu)
NM_014946.4(SPAST):c.296_415+198del rs2148685676
NM_014946.4(SPAST):c.301TCGGCC[3] (p.Ala104_Pro105insSerAla)
NM_014946.4(SPAST):c.302C>A (p.Ser101Ter) rs746263735
NM_014946.4(SPAST):c.303G>A (p.Ser101=)
NM_014946.4(SPAST):c.306C>T (p.Ala102=)
NM_014946.4(SPAST):c.30G>C (p.Lys10Asn)
NM_014946.4(SPAST):c.311C>T (p.Ala104Val)
NM_014946.4(SPAST):c.312C>A (p.Ala104=)
NM_014946.4(SPAST):c.312C>T (p.Ala104=) rs1198003195
NM_014946.4(SPAST):c.312_317del (p.104AP[1])
NM_014946.4(SPAST):c.312_317dup (p.104AP[3]) rs747993450
NM_014946.4(SPAST):c.317C>T (p.Ala106Val) rs1385218846
NM_014946.4(SPAST):c.320C>T (p.Pro107Leu) rs776858496
NM_014946.4(SPAST):c.326C>G (p.Pro109Arg)
NM_014946.4(SPAST):c.326C>T (p.Pro109Leu)
NM_014946.4(SPAST):c.327G>A (p.Pro109=)
NM_014946.4(SPAST):c.328_340del (p.Gly110fs) rs1410418105
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.4(SPAST):c.339C>T (p.Ala113=)
NM_014946.4(SPAST):c.340G>T (p.Glu114Ter) rs1553394608
NM_014946.4(SPAST):c.344_353dup (p.Phe119fs) rs1558606204
NM_014946.4(SPAST):c.360C>T (p.His120=)
NM_014946.4(SPAST):c.361A>T (p.Lys121Ter) rs1553394620
NM_014946.4(SPAST):c.369C>T (p.Ala123=) rs959239665
NM_014946.4(SPAST):c.369dup (p.Phe124fs)
NM_014946.4(SPAST):c.371T>A (p.Phe124Tyr)
NM_014946.4(SPAST):c.372C>G (p.Phe124Leu) rs754912349
NM_014946.4(SPAST):c.375G>A (p.Glu125=)
NM_014946.4(SPAST):c.377A>G (p.Tyr126Cys)
NM_014946.4(SPAST):c.377A>T (p.Tyr126Phe) rs781065348
NM_014946.4(SPAST):c.379A>G (p.Ile127Val) rs1395313104
NM_014946.4(SPAST):c.37T>A (p.Ser13Thr) rs781222498
NM_014946.4(SPAST):c.381C>T (p.Ile127=)
NM_014946.4(SPAST):c.390C>G (p.Ala130=)
NM_014946.4(SPAST):c.390_391delinsGGT (p.Leu131fs) rs1060502230
NM_014946.4(SPAST):c.391C>T (p.Leu131=) rs1440932106
NM_014946.4(SPAST):c.39C>T (p.Ser13=)
NM_014946.4(SPAST):c.3G>C (p.Met1Ile)
NM_014946.4(SPAST):c.402T>C (p.Asp134=)
NM_014946.4(SPAST):c.40G>A (p.Gly14Ser)
NM_014946.4(SPAST):c.410del (p.Glu137fs) rs1060502229
NM_014946.4(SPAST):c.411_412dup (p.Lys138fs)
NM_014946.4(SPAST):c.415+12G>C rs539075273
NM_014946.4(SPAST):c.415+17G>C
NM_014946.4(SPAST):c.415+1G>A rs1057521135
NM_014946.4(SPAST):c.415+1G>C
NM_014946.4(SPAST):c.415+1G>T rs1057521135
NM_014946.4(SPAST):c.416-11T>C
NM_014946.4(SPAST):c.416-16A>T
NM_014946.4(SPAST):c.416-17_416-15del
NM_014946.4(SPAST):c.419G>T (p.Gly140Val)
NM_014946.4(SPAST):c.421C>G (p.Gln141Glu)
NM_014946.4(SPAST):c.422_425del (p.Gln141fs) rs1553399472
NM_014946.4(SPAST):c.426G>C (p.Lys142Asn)
NM_014946.4(SPAST):c.430C>T (p.Gln144Ter) rs1553399476
NM_014946.4(SPAST):c.443G>A (p.Trp148Ter) rs1573068995
NM_014946.4(SPAST):c.444G>A (p.Trp148Ter) rs1553399493
NM_014946.4(SPAST):c.453A>G (p.Lys151=)
NM_014946.4(SPAST):c.465del (p.Glu155fs) rs863224514
NM_014946.4(SPAST):c.469G>T (p.Glu157Ter)
NM_014946.4(SPAST):c.474dup (p.Gly159fs) rs1677533628
NM_014946.4(SPAST):c.476G>C (p.Gly159Ala)
NM_014946.4(SPAST):c.487dup (p.Ile163fs)
NM_014946.4(SPAST):c.493A>G (p.Thr165Ala) rs770141489
NM_014946.4(SPAST):c.494C>T (p.Thr165Ile)
NM_014946.4(SPAST):c.494del (p.Thr165fs) rs2148708949
NM_014946.4(SPAST):c.502+10T>C
NM_014946.4(SPAST):c.502+8T>C
NM_014946.4(SPAST):c.502+9G>A rs1677536089
NM_014946.4(SPAST):c.502+9del
NM_014946.4(SPAST):c.503-19A>G
NM_014946.4(SPAST):c.503-8dup
NM_014946.4(SPAST):c.508C>T (p.Gln170Ter) rs886039695
NM_014946.4(SPAST):c.511T>C (p.Cys171Arg) rs746073001
NM_014946.4(SPAST):c.514G>T (p.Glu172Ter) rs2148710558
NM_014946.4(SPAST):c.519A>G (p.Arg173=) rs1677627735
NM_014946.4(SPAST):c.521del (p.Ala174fs) rs1677627829
NM_014946.4(SPAST):c.523A>G (p.Arg175Gly)
NM_014946.4(SPAST):c.526C>A (p.Arg176Ser) rs775364035
NM_014946.4(SPAST):c.526C>T (p.Arg176Cys)
NM_014946.4(SPAST):c.528C>G (p.Arg176=)
NM_014946.4(SPAST):c.562del (p.Ala188fs) rs1553400002
NM_014946.4(SPAST):c.577C>T (p.Gln193Ter) rs1553400013
NM_014946.4(SPAST):c.57G>C (p.Pro19=)
NM_014946.4(SPAST):c.580del (p.Leu194fs) rs2148710617
NM_014946.4(SPAST):c.586+14T>C
NM_014946.4(SPAST):c.586+3A>G rs1677631075
NM_014946.4(SPAST):c.586+7A>G
NM_014946.4(SPAST):c.586+9_586+12del rs554544808
NM_014946.4(SPAST):c.587-14T>G
NM_014946.4(SPAST):c.587-17C>T
NM_014946.4(SPAST):c.587-4A>G rs1400181900
NM_014946.4(SPAST):c.589A>G (p.Lys197Glu)
NM_014946.4(SPAST):c.601G>A (p.Val201Ile)
NM_014946.4(SPAST):c.606G>A (p.Leu202=)
NM_014946.4(SPAST):c.609A>G (p.Pro203=)
NM_014946.4(SPAST):c.60G>T (p.Val20=) rs752272987
NM_014946.4(SPAST):c.638A>G (p.Asn213Ser)
NM_014946.4(SPAST):c.642C>A (p.Asp214Glu) rs1678016729
NM_014946.4(SPAST):c.644G>A (p.Ser215Asn) rs774722817
NM_014946.4(SPAST):c.651C>A (p.Asn217Lys)
NM_014946.4(SPAST):c.659G>A (p.Cys220Tyr)
NM_014946.4(SPAST):c.65C>A (p.Pro22His)
NM_014946.4(SPAST):c.660C>G (p.Cys220Trp)
NM_014946.4(SPAST):c.662G>A (p.Arg221His)
NM_014946.4(SPAST):c.662G>T (p.Arg221Leu)
NM_014946.4(SPAST):c.664A>G (p.Asn222Asp) rs1354823029
NM_014946.4(SPAST):c.664A>T (p.Asn222Tyr)
NM_014946.4(SPAST):c.665A>G (p.Asn222Ser)
NM_014946.4(SPAST):c.67A>G (p.Arg23Gly)
NM_014946.4(SPAST):c.682+20C>T
NM_014946.4(SPAST):c.683-12T>C
NM_014946.4(SPAST):c.683-13T>C
NM_014946.4(SPAST):c.683-16A>G
NM_014946.4(SPAST):c.683-3C>G
NM_014946.4(SPAST):c.685A>G (p.Ser229Gly)
NM_014946.4(SPAST):c.68G>A (p.Arg23Lys) rs558882317
NM_014946.4(SPAST):c.695_717dup (p.Thr240delinsPheGlnLysGluLysThrProTer) rs1678753568
NM_014946.4(SPAST):c.698del (p.Pro233fs) rs1573118105
NM_014946.4(SPAST):c.6_7del (p.Pro4fs) rs1553394366
NM_014946.4(SPAST):c.70C>T (p.Pro24Ser)
NM_014946.4(SPAST):c.722A>G (p.His241Arg)
NM_014946.4(SPAST):c.724_725del (p.His241_Thr242insTer) rs1558323426
NM_014946.4(SPAST):c.734C>G (p.Ser245Ter) rs1553314896
NM_014946.4(SPAST):c.73C>G (p.Pro25Ala)
NM_014946.4(SPAST):c.740C>G (p.Pro247Arg) rs1316217696
NM_014946.4(SPAST):c.746C>G (p.Ser249Ter) rs1553314902
NM_014946.4(SPAST):c.746dup (p.Thr251fs) rs2148732927
NM_014946.4(SPAST):c.751dup (p.Thr251fs)
NM_014946.4(SPAST):c.757dup (p.Met253fs) rs2148732951
NM_014946.4(SPAST):c.759G>A (p.Met253Ile)
NM_014946.4(SPAST):c.75G>A (p.Pro25=)
NM_014946.4(SPAST):c.760A>C (p.Lys254Gln)
NM_014946.4(SPAST):c.763dup (p.Thr255fs)
NM_014946.4(SPAST):c.768A>G (p.Gly256=) rs2148732966
NM_014946.4(SPAST):c.768A>T (p.Gly256=)
NM_014946.4(SPAST):c.782C>A (p.Ser261Ter) rs768241184
NM_014946.4(SPAST):c.782C>G (p.Ser261Ter)
NM_014946.4(SPAST):c.786C>T (p.Gly262=)
NM_014946.4(SPAST):c.78C>A (p.Pro26=)
NM_014946.4(SPAST):c.78C>T (p.Pro26=)
NM_014946.4(SPAST):c.796G>A (p.Ala266Thr)
NM_014946.4(SPAST):c.79C>A (p.Pro27Thr)
NM_014946.4(SPAST):c.800del (p.Pro267fs)
NM_014946.4(SPAST):c.803_806dup (p.Tyr269Ter)
NM_014946.4(SPAST):c.807C>G (p.Tyr269Ter) rs771388402
NM_014946.4(SPAST):c.808A>C (p.Ser270Arg)
NM_014946.4(SPAST):c.808A>G (p.Ser270Gly)
NM_014946.4(SPAST):c.80C>G (p.Pro27Arg)
NM_014946.4(SPAST):c.80_98dup (p.Pro34fs)
NM_014946.4(SPAST):c.811_817del (p.Gly271fs)
NM_014946.4(SPAST):c.816A>C (p.Leu272Phe)
NM_014946.4(SPAST):c.818C>A (p.Ser273Tyr)
NM_014946.4(SPAST):c.820A>G (p.Met274Val)
NM_014946.4(SPAST):c.830G>T (p.Gly277Val) rs1678761963
NM_014946.4(SPAST):c.830del (p.Gly277fs)
NM_014946.4(SPAST):c.832G>C (p.Val278Leu) rs369908571
NM_014946.4(SPAST):c.838C>T (p.Gln280Ter) rs1553314948
NM_014946.4(SPAST):c.839A>C (p.Gln280Pro)
NM_014946.4(SPAST):c.839_840del (p.Gln280fs) rs1678762730
NM_014946.4(SPAST):c.83G>C (p.Cys28Ser) rs1676390484
NM_014946.4(SPAST):c.845C>G (p.Ser282Cys)
NM_014946.4(SPAST):c.853G>A (p.Ala285Thr)
NM_014946.4(SPAST):c.857del (p.Pro286fs)
NM_014946.4(SPAST):c.863C>G (p.Thr288Ser)
NM_014946.4(SPAST):c.863C>T (p.Thr288Ile) rs148680726
NM_014946.4(SPAST):c.867_868del (p.His289fs) rs1558323659
NM_014946.4(SPAST):c.870+1G>A rs1553314978
NM_014946.4(SPAST):c.870+1G>T rs1553314978
NM_014946.4(SPAST):c.870+2T>C
NM_014946.4(SPAST):c.870G>A (p.Lys290=) rs1421791559
NM_014946.4(SPAST):c.870G>C (p.Lys290Asn)
NM_014946.4(SPAST):c.871-12G>A rs764275621
NM_014946.4(SPAST):c.871-17del
NM_014946.4(SPAST):c.871-1G>C rs1057524526
NM_014946.4(SPAST):c.871-29_871-9del
NM_014946.4(SPAST):c.871G>T (p.Gly291Cys)
NM_014946.4(SPAST):c.872G>T (p.Gly291Val)
NM_014946.4(SPAST):c.87G>A (p.Leu29=)
NM_014946.4(SPAST):c.883dup (p.Thr295fs) rs1553315181
NM_014946.4(SPAST):c.899_900insTT (p.Lys300fs) rs1678803263
NM_014946.4(SPAST):c.902_903dup (p.Ser302fs) rs2148734025
NM_014946.4(SPAST):c.909C>T (p.Thr303=)
NM_014946.4(SPAST):c.90C>G (p.Ala30=)
NM_014946.4(SPAST):c.910C>G (p.Pro304Ala)
NM_014946.4(SPAST):c.911C>G (p.Pro304Arg)
NM_014946.4(SPAST):c.913A>G (p.Thr305Ala)
NM_014946.4(SPAST):c.915A>G (p.Thr305=)
NM_014946.4(SPAST):c.916A>G (p.Thr306Ala)
NM_014946.4(SPAST):c.922A>C (p.Thr308Pro)
NM_014946.4(SPAST):c.923_927del (p.Thr308fs) rs1678805683
NM_014946.4(SPAST):c.924dup (p.Arg309fs) rs1678805865
NM_014946.4(SPAST):c.925del (p.Arg309fs) rs863224515
NM_014946.4(SPAST):c.928A>T (p.Lys310Ter) rs1678806430
NM_014946.4(SPAST):c.936dup (p.Asp313fs) rs2148734097
NM_014946.4(SPAST):c.939_943del (p.Asp313fs)
NM_014946.4(SPAST):c.93dup (p.Ala32fs) rs1676391139
NM_014946.4(SPAST):c.942dup (p.Lys315fs)
NM_014946.4(SPAST):c.945del (p.Asn316fs)
NM_014946.4(SPAST):c.949_950insA (p.Phe317fs)
NM_014946.4(SPAST):c.950T>G (p.Phe317Cys) rs759832933
NM_014946.4(SPAST):c.956dup (p.Asn319fs)
NM_014946.4(SPAST):c.966C>A (p.Ser322Arg)
NM_014946.4(SPAST):c.966del (p.Ser322fs)
NM_014946.4(SPAST):c.968A>G (p.Asn323Ser)
NM_014946.4(SPAST):c.970del (p.Ala325fs) rs1678809494
NM_014946.4(SPAST):c.975dup (p.Asn326Ter) rs1678809927
NM_014946.4(SPAST):c.977dup (p.Asn326fs) rs1678810039
NM_014946.4(SPAST):c.97C>T (p.Pro33Ser)
NM_014946.4(SPAST):c.97_105del (p.Pro33_Ala35del)
NM_014946.4(SPAST):c.985A>G (p.Met329Val) rs1314415557
NM_014946.4(SPAST):c.987G>A (p.Met329Ile) rs1553315231
NM_014946.4(SPAST):c.99T>A (p.Pro33=) rs1573027124
NM_015087.5(SPART):c.1227A>G (p.Pro409=) rs1555261871
NM_015161.3(ARL6IP1):c.113G>A (p.Arg38Gln)
NM_015161.3(ARL6IP1):c.168T>C (p.Phe56=)
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.1362C>G (p.Ala454=)
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.1455T>C (p.Ile485=)
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.1671T>C (p.Phe557=)
NM_015214.3(DDHD2):c.1673A>G (p.Glu558Gly)
NM_015214.3(DDHD2):c.1689A>G (p.Pro563=)
NM_015214.3(DDHD2):c.1720+18A>C
NM_015214.3(DDHD2):c.1721-11A>G
NM_015214.3(DDHD2):c.1721-9A>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.344G>A (p.Trp115Ter)
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.475G>A (p.Glu159Lys)
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.588A>G (p.Arg196=)
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_015915.5(ATL1):c.1002G>A (p.Lys334=)
NM_015915.5(ATL1):c.1008T>G (p.Tyr336Ter)
NM_015915.5(ATL1):c.1013G>A (p.Gly338Asp)
NM_015915.5(ATL1):c.1021_1023del (p.Leu341del)
NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala) rs1555365509
NM_015915.5(ATL1):c.1030C>A (p.Pro344Thr) rs2039470124
NM_015915.5(ATL1):c.1030_1040del (p.Pro344fs)
NM_015915.5(ATL1):c.1035A>G (p.Lys345=)
NM_015915.5(ATL1):c.1037C>T (p.Ser346Phe)
NM_015915.5(ATL1):c.1040T>C (p.Met347Thr) rs1595620366
NM_015915.5(ATL1):c.1041G>A (p.Met347Ile) rs1555365512
NM_015915.5(ATL1):c.1047+10A>G rs2140233560
NM_015915.5(ATL1):c.1047+20C>T rs754774903
NM_015915.5(ATL1):c.1047+4T>C
NM_015915.5(ATL1):c.1048-20A>G
NM_015915.5(ATL1):c.1048-7T>C
NM_015915.5(ATL1):c.1048G>A (p.Ala350Thr) rs1595621292
NM_015915.5(ATL1):c.1048G>T (p.Ala350Ser) rs1595621292
NM_015915.5(ATL1):c.1051A>G (p.Thr351Ala) rs2140234793
NM_015915.5(ATL1):c.1057G>A (p.Glu353Lys) rs1555365595
NM_015915.5(ATL1):c.1064A>C (p.Asn355Thr)
NM_015915.5(ATL1):c.1068T>A (p.Asn356Lys) rs1595621335
NM_015915.5(ATL1):c.1070T>C (p.Leu357Ser)
NM_015915.5(ATL1):c.1074A>C (p.Ala358=) rs1363756767
NM_015915.5(ATL1):c.1077C>T (p.Ala359=)
NM_015915.5(ATL1):c.1079T>G (p.Val360Gly)
NM_015915.5(ATL1):c.1097C>T (p.Thr366Ile)
NM_015915.5(ATL1):c.109G>C (p.Val37Leu)
NM_015915.5(ATL1):c.1101C>A (p.Tyr367Ter)
NM_015915.5(ATL1):c.1119+19A>G
NM_015915.5(ATL1):c.1119+7G>A rs1487034076
NM_015915.5(ATL1):c.1119G>A (p.Glu373=) rs2039485066
NM_015915.5(ATL1):c.111C>A (p.Val37=)
NM_015915.5(ATL1):c.1120-10T>C
NM_015915.5(ATL1):c.1120-11_1120-8del
NM_015915.5(ATL1):c.1129G>A (p.Gly377Ser)
NM_015915.5(ATL1):c.1134C>G (p.Asp378Glu)
NM_015915.5(ATL1):c.1137A>G (p.Lys379=) rs2140238970
NM_015915.5(ATL1):c.1138C>A (p.Pro380Thr)
NM_015915.5(ATL1):c.1142T>A (p.Phe381Tyr) rs2039538375
NM_015915.5(ATL1):c.1144C>G (p.Leu382Val)
NM_015915.5(ATL1):c.114C>T (p.Leu38=)
NM_015915.5(ATL1):c.1157A>G (p.Asp386Gly) rs2039538543
NM_015915.5(ATL1):c.1158C>T (p.Asp386=) rs2140238986
NM_015915.5(ATL1):c.1160T>C (p.Leu387Ser) rs1595625010
NM_015915.5(ATL1):c.1173C>A (p.His391Gln)
NM_015915.5(ATL1):c.1173C>G (p.His391Gln) rs149340140
NM_015915.5(ATL1):c.1189G>C (p.Glu397Gln) rs148203226
NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr) rs864622083
NM_015915.5(ATL1):c.1197G>C (p.Val399=)
NM_015915.5(ATL1):c.11A>G (p.Asn4Ser)
NM_015915.5(ATL1):c.1201C>T (p.Leu401=)
NM_015915.5(ATL1):c.1203A>T (p.Leu401=)
NM_015915.5(ATL1):c.1204T>C (p.Phe402Leu) rs1555365850
NM_015915.5(ATL1):c.1208G>A (p.Arg403Gln)
NM_015915.5(ATL1):c.1214T>G (p.Val405Gly)
NM_015915.5(ATL1):c.1216A>C (p.Lys406Gln) rs1595625104
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del) rs1595625099
NM_015915.5(ATL1):c.1220A>T (p.Lys407Met) rs2039539459
NM_015915.5(ATL1):c.1221G>C (p.Lys407Asn)
NM_015915.5(ATL1):c.1222A>G (p.Met408Val) rs28939094
NM_015915.5(ATL1):c.1223T>C (p.Met408Thr) rs1595625113
NM_015915.5(ATL1):c.1225G>T (p.Gly409Cys) rs1064795212
NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp) rs2039539644
NM_015915.5(ATL1):c.1228G>A (p.Gly410Arg) rs1555365854
NM_015915.5(ATL1):c.1237T>C (p.Phe413Leu)
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln) rs397514712
NM_015915.5(ATL1):c.1256A>T (p.Gln419Leu) rs752641587
NM_015915.5(ATL1):c.1259A>C (p.Gln420Pro)
NM_015915.5(ATL1):c.1259A>G (p.Gln420Arg) rs143038913
NM_015915.5(ATL1):c.125A>T (p.Asp42Val) rs2140201784
NM_015915.5(ATL1):c.1263G>C (p.Leu421Phe) rs2140239106
NM_015915.5(ATL1):c.1266G>A (p.Glu422=) rs1595625167
NM_015915.5(ATL1):c.1267A>G (p.Ser423Gly)
NM_015915.5(ATL1):c.126T>C (p.Asp42=)
NM_015915.5(ATL1):c.1288A>C (p.Ile430Leu) rs1344787853
NM_015915.5(ATL1):c.1296T>C (p.Tyr432=) rs2140239149
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp) rs2140239163
NM_015915.5(ATL1):c.1306_1308del (p.Asn436del) rs1595625206
NM_015915.5(ATL1):c.1309G>A (p.Asp437Asn)
NM_015915.5(ATL1):c.1311T>C (p.Asp437=)
NM_015915.5(ATL1):c.1314C>G (p.Ser438Arg) rs541087955
NM_015915.5(ATL1):c.1322T>G (p.Ile441Ser) rs2039541164
NM_015915.5(ATL1):c.1323C>G (p.Ile441Met) rs781364352
NM_015915.5(ATL1):c.1330G>T (p.Ala444Ser) rs2039541394
NM_015915.5(ATL1):c.1332A>G (p.Ala444=) rs778318620
NM_015915.5(ATL1):c.1334C>T (p.Ala445Val) rs1595625262
NM_015915.5(ATL1):c.1336C>T (p.Arg446Cys)
NM_015915.5(ATL1):c.1337G>A (p.Arg446His)
NM_015915.5(ATL1):c.133T>G (p.Ser45Ala) rs2140201804
NM_015915.5(ATL1):c.1341C>G (p.Thr447=)
NM_015915.5(ATL1):c.1341C>T (p.Thr447=) rs2140239227
NM_015915.5(ATL1):c.1347C>T (p.Ala449=)
NM_015915.5(ATL1):c.135C>T (p.Ser45=) rs2039118124
NM_015915.5(ATL1):c.1369A>G (p.Ile457Val)
NM_015915.5(ATL1):c.1374A>G (p.Thr458=)
NM_015915.5(ATL1):c.1376A>G (p.Tyr459Cys)
NM_015915.5(ATL1):c.1379T>A (p.Val460Glu) rs1555365871
NM_015915.5(ATL1):c.1392G>A (p.Val464=)
NM_015915.5(ATL1):c.1392G>C (p.Val464=)
NM_015915.5(ATL1):c.1415T>G (p.Ile472Ser)
NM_015915.5(ATL1):c.1423A>G (p.Ser475Gly)
NM_015915.5(ATL1):c.1426C>T (p.Leu476=)
NM_015915.5(ATL1):c.1430G>C (p.Cys477Ser)
NM_015915.5(ATL1):c.1434T>C (p.Asn478=) rs1555365873
NM_015915.5(ATL1):c.1435A>T (p.Met479Leu)
NM_015915.5(ATL1):c.1449G>C (p.Leu483=)
NM_015915.5(ATL1):c.1460C>T (p.Thr487Ile) rs778172917
NM_015915.5(ATL1):c.1484G>A (p.Arg495Gln)
NM_015915.5(ATL1):c.1485G>C (p.Arg495=)
NM_015915.5(ATL1):c.1488C>A (p.Tyr496Ter) rs779304953
NM_015915.5(ATL1):c.1502G>C (p.Arg501Pro) rs374795927
NM_015915.5(ATL1):c.1505_1506del (p.Glu502fs) rs2140239392
NM_015915.5(ATL1):c.1511G>A (p.Gly504Glu) rs1242753115
NM_015915.5(ATL1):c.1512A>G (p.Gly504=)
NM_015915.5(ATL1):c.1514C>G (p.Ala505Gly) rs2039543855
NM_015915.5(ATL1):c.1516del (p.Ala505_Val506insTer) rs2140239426
NM_015915.5(ATL1):c.1518A>C (p.Val506=)
NM_015915.5(ATL1):c.1519A>G (p.Ile507Val) rs2140239435
NM_015915.5(ATL1):c.1523A>C (p.Asp508Ala)
NM_015915.5(ATL1):c.1546G>A (p.Asp516Asn) rs776441162
NM_015915.5(ATL1):c.1551+10C>T
NM_015915.5(ATL1):c.1552G>A (p.Gly518Arg)
NM_015915.5(ATL1):c.1566+10A>T
NM_015915.5(ATL1):c.1566+10dup
NM_015915.5(ATL1):c.1566+2dup rs2039564321
NM_015915.5(ATL1):c.1567-12del
NM_015915.5(ATL1):c.1567-13G>A
NM_015915.5(ATL1):c.1567-18T>C rs763509651
NM_015915.5(ATL1):c.1572G>C (p.Leu524Phe)
NM_015915.5(ATL1):c.1573T>C (p.Tyr525His) rs766795888
NM_015915.5(ATL1):c.1602C>A (p.His534Gln)
NM_015915.5(ATL1):c.1605A>C (p.Arg535Ser)
NM_015915.5(ATL1):c.1611G>C (p.Leu537=)
NM_015915.5(ATL1):c.1612T>A (p.Tyr538Asn)
NM_015915.5(ATL1):c.1631C>T (p.Thr544Ile) rs2140243100
NM_015915.5(ATL1):c.1637A>G (p.Lys546Arg)
NM_015915.5(ATL1):c.1638G>C (p.Lys546Asn) rs141471168
NM_015915.5(ATL1):c.1639T>G (p.Ser547Ala)
NM_015915.5(ATL1):c.1650T>A (p.Thr550=) rs1486848170
NM_015915.5(ATL1):c.1663A>G (p.Lys555Glu) rs2039590846
NM_015915.5(ATL1):c.1665G>T (p.Lys555Asn)
NM_015915.5(ATL1):c.1673T>A (p.Met558Lys) rs1351389277
NM_015915.5(ATL1):c.1673T>C (p.Met558Thr) rs1351389277
NM_015915.5(ATL1):c.1673T>G (p.Met558Arg)
NM_015915.5(ATL1):c.1674G>A (p.Met558Ile)
NM_015915.5(ATL1):c.1676A>G (p.Ter559=) rs1442353711
NM_015915.5(ATL1):c.177G>A (p.Ser59=)
NM_015915.5(ATL1):c.177G>C (p.Ser59=) rs201580688
NM_015915.5(ATL1):c.178G>C (p.Glu60Gln) rs2140201888
NM_015915.5(ATL1):c.179A>C (p.Glu60Ala)
NM_015915.5(ATL1):c.182C>T (p.Ala61Val)
NM_015915.5(ATL1):c.192C>T (p.Asp64=)
NM_015915.5(ATL1):c.196G>A (p.Glu66Lys) rs200314808
NM_015915.5(ATL1):c.196G>C (p.Glu66Gln) rs200314808
NM_015915.5(ATL1):c.206C>T (p.Ala69Val) rs2140201934
NM_015915.5(ATL1):c.210A>G (p.Val70=)
NM_015915.5(ATL1):c.22A>C (p.Arg8=)
NM_015915.5(ATL1):c.249G>A (p.Leu83=)
NM_015915.5(ATL1):c.254A>G (p.Asp85Gly) rs2140201974
NM_015915.5(ATL1):c.261G>A (p.Met87Ile)
NM_015915.5(ATL1):c.268T>C (p.Tyr90His)
NM_015915.5(ATL1):c.26A>G (p.Asn9Ser)
NM_015915.5(ATL1):c.271A>C (p.Met91Leu)
NM_015915.5(ATL1):c.271A>G (p.Met91Val)
NM_015915.5(ATL1):c.282+15C>G rs764492146
NM_015915.5(ATL1):c.282+15C>T
NM_015915.5(ATL1):c.282+18T>G
NM_015915.5(ATL1):c.282G>A (p.Gln94=)
NM_015915.5(ATL1):c.282G>C (p.Gln94His) rs2140202008
NM_015915.5(ATL1):c.283-16C>G
NM_015915.5(ATL1):c.283-20T>C
NM_015915.5(ATL1):c.283-20del
NM_015915.5(ATL1):c.283-8T>C
NM_015915.5(ATL1):c.293A>G (p.Asp98Gly) rs2039150193
NM_015915.5(ATL1):c.298G>T (p.Val100Phe) rs2039150272
NM_015915.5(ATL1):c.308A>G (p.Tyr103Cys)
NM_015915.5(ATL1):c.317C>G (p.Pro106Arg)
NM_015915.5(ATL1):c.318A>T (p.Pro106=) rs2140204833
NM_015915.5(ATL1):c.336G>A (p.Trp112Ter)
NM_015915.5(ATL1):c.34+10A>G rs2140173150
NM_015915.5(ATL1):c.34+16G>A rs368925590
NM_015915.5(ATL1):c.34+16G>C
NM_015915.5(ATL1):c.34+16G>T
NM_015915.5(ATL1):c.34+3G>C
NM_015915.5(ATL1):c.34+6T>G
NM_015915.5(ATL1):c.341G>T (p.Gly114Val) rs2140204855
NM_015915.5(ATL1):c.348T>C (p.Ser116=)
NM_015915.5(ATL1):c.349G>C (p.Glu117Gln)
NM_015915.5(ATL1):c.35-10T>C rs2140201641
NM_015915.5(ATL1):c.35-11C>A rs2039116866
NM_015915.5(ATL1):c.35-15T>C
NM_015915.5(ATL1):c.35-16C>T
NM_015915.5(ATL1):c.35-1G>A
NM_015915.5(ATL1):c.35-3C>T rs1595597911
NM_015915.5(ATL1):c.35-8T>C
NM_015915.5(ATL1):c.353G>A (p.Arg118Gln) rs606231265
NM_015915.5(ATL1):c.354A>G (p.Arg118=)
NM_015915.5(ATL1):c.35G>A (p.Gly12Asp)
NM_015915.5(ATL1):c.373A>G (p.Ile125Val) rs1566723956
NM_015915.5(ATL1):c.375A>G (p.Ile125Met)
NM_015915.5(ATL1):c.38G>C (p.Gly13Ala) rs2140201659
NM_015915.5(ATL1):c.391C>T (p.Leu131Phe) rs1056287593
NM_015915.5(ATL1):c.409G>T (p.Gly137Cys) rs772400647
NM_015915.5(ATL1):c.412A>G (p.Lys138Glu)
NM_015915.5(ATL1):c.417+23_417+27del
NM_015915.5(ATL1):c.417G>T (p.Lys139Asn)
NM_015915.5(ATL1):c.418-14C>G
NM_015915.5(ATL1):c.418-19G>A
NM_015915.5(ATL1):c.418-19G>T rs2934684
NM_015915.5(ATL1):c.421G>T (p.Ala141Ser)
NM_015915.5(ATL1):c.426G>A (p.Val142=) rs2140205389
NM_015915.5(ATL1):c.444G>A (p.Gln148=)
NM_015915.5(ATL1):c.450C>A (p.Thr150=)
NM_015915.5(ATL1):c.461A>G (p.Gln154Arg) rs1060502971
NM_015915.5(ATL1):c.463T>C (p.Ser155Pro)
NM_015915.5(ATL1):c.467C>T (p.Thr156Ile) rs137852657
NM_015915.5(ATL1):c.471G>T (p.Leu157Phe) rs2140205438
NM_015915.5(ATL1):c.473G>T (p.Arg158Ile) rs2039158855
NM_015915.5(ATL1):c.478T>C (p.Ser160Pro) rs886041897
NM_015915.5(ATL1):c.481G>T (p.Ala161Ser) rs1555363969
NM_015915.5(ATL1):c.482C>T (p.Ala161Val) rs2140205448
NM_015915.5(ATL1):c.48A>C (p.Glu16Asp)
NM_015915.5(ATL1):c.521del (p.Gln174fs)
NM_015915.5(ATL1):c.522+10A>G rs1238847891
NM_015915.5(ATL1):c.522+15C>T rs2140205538
NM_015915.5(ATL1):c.522+19T>C rs748226901
NM_015915.5(ATL1):c.522+19T>G rs748226901
NM_015915.5(ATL1):c.522+25_522+27del
NM_015915.5(ATL1):c.522+5G>A
NM_015915.5(ATL1):c.531C>T (p.Asn177=)
NM_015915.5(ATL1):c.536C>A (p.Ser179Tyr) rs1555364149
NM_015915.5(ATL1):c.540A>C (p.Gln180His) rs1595602064
NM_015915.5(ATL1):c.54A>G (p.Thr18=)
NM_015915.5(ATL1):c.552G>A (p.Glu184=)
NM_015915.5(ATL1):c.55T>A (p.Tyr19Asn)
NM_015915.5(ATL1):c.565C>G (p.His189Asp) rs2140208127
NM_015915.5(ATL1):c.568C>T (p.Leu190Phe) rs2140208137
NM_015915.5(ATL1):c.56_57del (p.Thr18_Tyr19insTer)
NM_015915.5(ATL1):c.570C>A (p.Leu190=) rs202173614
NM_015915.5(ATL1):c.572A>G (p.Gln191Arg) rs1566725003
NM_015915.5(ATL1):c.573+14T>C
NM_015915.5(ATL1):c.573+24dup
NM_015915.5(ATL1):c.574-14A>G
NM_015915.5(ATL1):c.574-19T>C
NM_015915.5(ATL1):c.574-20G>A
NM_015915.5(ATL1):c.574-5del
NM_015915.5(ATL1):c.574-6T>C
NM_015915.5(ATL1):c.574C>A (p.Leu192Ile)
NM_015915.5(ATL1):c.574C>G (p.Leu192Val)
NM_015915.5(ATL1):c.576T>G (p.Leu192=)
NM_015915.5(ATL1):c.582T>G (p.Thr194=)
NM_015915.5(ATL1):c.583G>A (p.Glu195Lys)
NM_015915.5(ATL1):c.584A>C (p.Glu195Ala)
NM_015915.5(ATL1):c.587A>G (p.Tyr196Cys) rs1555364246
NM_015915.5(ATL1):c.594A>C (p.Arg198Ser) rs1555364247
NM_015915.5(ATL1):c.60A>G (p.Glu20=) rs2039117245
NM_015915.5(ATL1):c.61T>C (p.Trp21Arg) rs1566722905
NM_015915.5(ATL1):c.630+15A>T
NM_015915.5(ATL1):c.630+9G>A
NM_015915.5(ATL1):c.631-20C>G
NM_015915.5(ATL1):c.631-7T>G rs186528086
NM_015915.5(ATL1):c.631-9_631-7del
NM_015915.5(ATL1):c.633T>C (p.Ser211=)
NM_015915.5(ATL1):c.634C>T (p.Leu212=)
NM_015915.5(ATL1):c.650G>A (p.Arg217Gln) rs119476049
NM_015915.5(ATL1):c.70G>C (p.Glu24Gln)
NM_015915.5(ATL1):c.710A>G (p.Glu237Gly)
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015915.5(ATL1):c.716G>A (p.Arg239His) rs1241621325
NM_015915.5(ATL1):c.716G>T (p.Arg239Leu) rs1241621325
NM_015915.5(ATL1):c.723+10A>C rs759370589
NM_015915.5(ATL1):c.723+3_723+19del rs1461170744
NM_015915.5(ATL1):c.724-9T>G
NM_015915.5(ATL1):c.731G>T (p.Gly244Val) rs2039394970
NM_015915.5(ATL1):c.735C>T (p.Asn245=) rs2140226881
NM_015915.5(ATL1):c.740A>G (p.His247Arg) rs2140226883
NM_015915.5(ATL1):c.741T>G (p.His247Gln)
NM_015915.5(ATL1):c.751C>A (p.Gln251Lys) rs1595615134
NM_015915.5(ATL1):c.754A>C (p.Asn252His) rs2140226902
NM_015915.5(ATL1):c.756C>A (p.Asn252Lys) rs771031586
NM_015915.5(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_015915.5(ATL1):c.757G>C (p.Val253Leu)
NM_015915.5(ATL1):c.757G>T (p.Val253Phe)
NM_015915.5(ATL1):c.763A>G (p.Lys255Glu)
NM_015915.5(ATL1):c.766C>G (p.His256Asp) rs2140226921
NM_015915.5(ATL1):c.773A>C (p.His258Pro)
NM_015915.5(ATL1):c.773A>G (p.His258Arg) rs119476048
NM_015915.5(ATL1):c.773A>T (p.His258Leu) rs119476048
NM_015915.5(ATL1):c.776C>A (p.Ser259Tyr) rs119476047
NM_015915.5(ATL1):c.776C>T (p.Ser259Phe) rs119476047
NM_015915.5(ATL1):c.781_782insA (p.Phe261fs) rs1181733510
NM_015915.5(ATL1):c.788A>G (p.Asn263Ser)
NM_015915.5(ATL1):c.860A>G (p.Lys287Arg) rs1324131690
NM_015915.5(ATL1):c.862+15A>G
NM_015915.5(ATL1):c.862+3T>G
NM_015915.5(ATL1):c.862+4T>G
NM_015915.5(ATL1):c.863-12T>C
NM_015915.5(ATL1):c.863-3T>C
NM_015915.5(ATL1):c.864A>C (p.Glu288Asp)
NM_015915.5(ATL1):c.86T>C (p.Val29Ala) rs2140201745
NM_015915.5(ATL1):c.874G>A (p.Glu292Lys) rs1360619786
NM_015915.5(ATL1):c.875A>G (p.Glu292Gly)
NM_015915.5(ATL1):c.884A>G (p.Lys295Arg)
NM_015915.5(ATL1):c.898C>A (p.Leu300Met)
NM_015915.5(ATL1):c.916A>G (p.Ser306Gly)
NM_015915.5(ATL1):c.918T>G (p.Ser306Arg) rs2039458848
NM_015915.5(ATL1):c.924G>C (p.Glu308Asp)
NM_015915.5(ATL1):c.935T>C (p.Ile312Thr)
NM_015915.5(ATL1):c.947A>G (p.Asn316Ser)
NM_015915.5(ATL1):c.971G>A (p.Gly324Asp) rs368143849
NM_015915.5(ATL1):c.990+14T>C
NM_015915.5(ATL1):c.990+19G>C
NM_015915.5(ATL1):c.990+20A>G
NM_015915.5(ATL1):c.990+9C>G
NM_015915.5(ATL1):c.991-12_991-11del
NM_015915.5(ATL1):c.991-13dup rs760671844
NM_015915.5(ATL1):c.991-16T>C
NM_015915.5(ATL1):c.991-19T>A
NM_015915.5(ATL1):c.991-3del rs753642042
NM_015915.5(ATL1):c.991-3dup rs753642042
NM_015915.5(ATL1):c.995A>C (p.Tyr332Ser)
NM_015915.5(ATL1):c.996T>C (p.Tyr332=)
NM_016630.7(SPG21):c.126C>T (p.Ile42=) rs943751413
NM_016630.7(SPG21):c.137_138del (p.Leu46fs)
NM_016630.7(SPG21):c.145C>T (p.Leu49=)
NM_016630.7(SPG21):c.177T>C (p.Phe59=) rs2085872082
NM_016630.7(SPG21):c.222C>T (p.Ile74=)
NM_016630.7(SPG21):c.226-8T>G
NM_016630.7(SPG21):c.307-7T>C
NM_016630.7(SPG21):c.321C>T (p.Gly107=) rs566278586
NM_016630.7(SPG21):c.357T>C (p.Ala119=)
NM_016630.7(SPG21):c.467C>G (p.Pro156Arg) rs2085634952
NM_016630.7(SPG21):c.479T>C (p.Leu160Pro)
NM_016630.7(SPG21):c.509C>T (p.Ser170Phe)
NM_016630.7(SPG21):c.525T>C (p.Pro175=) rs1595869510
NM_016630.7(SPG21):c.54C>T (p.Pro18=)
NM_016630.7(SPG21):c.625G>A (p.Val209Met) rs1339771718
NM_016630.7(SPG21):c.63+3A>T rs1202820000
NM_016630.7(SPG21):c.64-19_64-15del
NM_016630.7(SPG21):c.702T>C (p.Ala234=)
NM_016630.7(SPG21):c.740G>C (p.Arg247Thr) rs1595866120
NM_016630.7(SPG21):c.810+12C>T rs2140405781
NM_016630.7(SPG21):c.810+4A>C
NM_016630.7(SPG21):c.811-4A>T rs772074615
NM_016630.7(SPG21):c.844G>A (p.Ala282Thr)
NM_016630.7(SPG21):c.99G>T (p.Ser33=)
NM_022089.4(ATP13A2):c.10+13T>C
NM_022089.4(ATP13A2):c.10+14C>T
NM_022089.4(ATP13A2):c.1023T>C (p.Asn341=)
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.1074G>A (p.Pro358=)
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.11-2A>G
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>A (p.Gly405=)
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.1307-8C>T
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.1353+18G>A
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.1354-7del
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.1382del (p.Ala461fs)
NM_022089.4(ATP13A2):c.1386C>T (p.Leu462=)
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.1428C>T (p.Ala476=)
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+11A>T
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.1543-17C>A
NM_022089.4(ATP13A2):c.1543-17C>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.1668C>T (p.Ala556=)
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.1713C>T (p.Asp571=)
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.1750-8C>T
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.1970del (p.Pro657fs)
NM_022089.4(ATP13A2):c.1971G>A (p.Pro657=)
NM_022089.4(ATP13A2):c.1989C>G (p.Leu663=)
NM_022089.4(ATP13A2):c.1999G>A (p.Glu667Lys)
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.2006-4G>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.2064G>C (p.Val688=)
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.2112C>T (p.Ala704=)
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+19C>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+11A>C
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.2252-7C>A
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.2366_2367del (p.Leu789fs)
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.2400G>T (p.Val800=)
NM_022089.4(ATP13A2):c.2412+12C>G
NM_022089.4(ATP13A2):c.2413-1G>C
NM_022089.4(ATP13A2):c.2413-2A>G
NM_022089.4(ATP13A2):c.2417C>T (p.Pro806Leu) rs2100727013
NM_022089.4(ATP13A2):c.2424G>A (p.Gln808=)
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.2475C>G (p.Leu825=)
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+13C>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.2539C>T (p.Gln847Ter)
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+11G>A
NM_022089.4(ATP13A2):c.2609+19G>T
NM_022089.4(ATP13A2):c.2610-8C>T
NM_022089.4(ATP13A2):c.2621G>C (p.Gly874Ala)
NM_022089.4(ATP13A2):c.2652G>A (p.Gly884=)
NM_022089.4(ATP13A2):c.2652G>T (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>A
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.2805G>A (p.Lys935=)
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.2906T>C (p.Val969Ala)
NM_022089.4(ATP13A2):c.2907C>G (p.Val969=)
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+16_3235+21del
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.3361C>T (p.Leu1121=)
NM_022089.4(ATP13A2):c.3399G>A (p.Met1133Ile)
NM_022089.4(ATP13A2):c.339C>T (p.Gly113=)
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.379del (p.Asp127fs)
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+15A>C
NM_022089.4(ATP13A2):c.477+18C>A
NM_022089.4(ATP13A2):c.478-13C>T
NM_022089.4(ATP13A2):c.478-15C>T
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.636-12C>T
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.660G>A (p.Val220=)
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>A
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.744C>T (p.Ile248=)
NM_022089.4(ATP13A2):c.747G>A (p.Ala249=)
NM_022089.4(ATP13A2):c.765C>T (p.His255=)
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
NM_022089.4(ATP13A2):c.792C>T (p.Phe264=)
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.825G>C (p.Leu275=)
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_022089.4(ATP13A2):c.997C>T (p.Leu333=) rs1570854476
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.1170C>T (p.Asp390=)
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.1251C>T (p.His417=)
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.1372C>T (p.Gln458Ter)
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.13del (p.Glu5fs)
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+16A>G
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.1574G>C (p.Arg525Thr)
NM_025137.4(SPG11):c.1578C>T (p.Cys526=)
NM_025137.4(SPG11):c.1580C>G (p.Ser527Ter)
NM_025137.4(SPG11):c.1581A>T (p.Ser527=)
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+7G>A
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>A
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.1764T>C (p.Asp588=)
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+15T>C
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.18G>T (p.Gly6=)
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.1960A>G (p.Met654Val)
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.2022C>T (p.Val674=)
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.2044A>G (p.Ile682Val)
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.2058C>G (p.Leu686=)
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+11A>G
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.2068-3T>C
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.213_241del (p.Ser72fs)
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.2170A>G (p.Ile724Val)
NM_025137.4(SPG11):c.2172A>T (p.Ile724=)
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.220_221del (p.Gly74fs)
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>C
NM_025137.4(SPG11):c.2245-13A>T
NM_025137.4(SPG11):c.2245-13_2245-12del
NM_025137.4(SPG11):c.2245-16del
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.2316+7A>G
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.2317-9T>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.234C>T (p.Cys78=)
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.2445-8G>C rs777673463
NM_025137.4(SPG11):c.244G>A (p.Gly82Ser) rs774004835
NM_025137.4(SPG11):c.2460A>G (p.Glu820=)
NM_025137.4(SPG11):c.2463A>G (p.Gln821=)
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.2491G>A (p.Asp831Asn)
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+18G>T
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.2604C>T (p.Pro868=)
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.2676T>C (p.Asp892=)
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.2835-12A>G
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.2950G>T (p.Glu984Ter)
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.3013_3016del (p.Leu1005fs)
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.3039-1G>T
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.3039-8A>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.3094C>T (p.Pro1032Ser)
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+16A>G
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.3164del (p.Gln1055fs)
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.3261T>G (p.Thr1087=)
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+14T>C
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.3292-6A>C
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.3320_3321del (p.Cys1107fs) rs1366914385
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.336A>G (p.Glu112=)
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.3406C>T (p.Pro1136Ser)
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.3447T>C (p.Leu1149=)
NM_025137.4(SPG11):c.3453+10T>C rs2083377248
NM_025137.4(SPG11):c.3453+10T>G
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.3462A>G (p.Ser1154=)
NM_025137.4(SPG11):c.3465C>T (p.Pro1155=)
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.348T>C (p.Tyr116=)
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+1G>A
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.3521-7C>T
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.3651C>T (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+14A>T
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.3774A>G (p.Leu1258=)
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.384C>G (p.Thr128=)
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.3882A>G (p.Arg1294=)
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.3893-17_3893-15del
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>C
NM_025137.4(SPG11):c.4162-11A>G
NM_025137.4(SPG11):c.4162-13A>G
NM_025137.4(SPG11):c.4162-19C>T
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.4224G>C (p.Glu1408Asp)
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.4293T>G (p.Leu1431=)
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.4302_4308dup (p.Glu1437fs)
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.4329A>G (p.Glu1443=)
NM_025137.4(SPG11):c.4335G>A (p.Leu1445=)
NM_025137.4(SPG11):c.4338C>G (p.Leu1446=)
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.4395A>G (p.Gln1465=)
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.4417C>T (p.Leu1473=)
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.4492_4493del (p.Val1498fs)
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.4505C>T (p.Ala1502Val)
NM_025137.4(SPG11):c.4507A>G (p.Met1503Val)
NM_025137.4(SPG11):c.4511G>A (p.Gly1504Glu)
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.4558C>A (p.Leu1520Ile)
NM_025137.4(SPG11):c.4562C>G (p.Ser1521Ter) rs1337761270
NM_025137.4(SPG11):c.4566C>T (p.Val1522=)
NM_025137.4(SPG11):c.4577C>T (p.Thr1526Ile)
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.4687del (p.Arg1563fs)
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.4725T>G (p.Phe1575Leu)
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.4776C>T (p.Val1592=)
NM_025137.4(SPG11):c.4777del (p.Ile1593fs) rs1064797055
NM_025137.4(SPG11):c.4780C>G (p.Pro1594Ala) rs771186100
NM_025137.4(SPG11):c.4794G>A (p.Leu1598=)
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.486C>T (p.Asn162=)
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+10T>C
NM_025137.4(SPG11):c.4906+11C>G
NM_025137.4(SPG11):c.4906+16C>T
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.492A>G (p.Ser164=)
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.4978A>G (p.Ile1660Val)
NM_025137.4(SPG11):c.4982T>C (p.Ile1661Thr)
NM_025137.4(SPG11):c.4985C>A (p.Thr1662Asn)
NM_025137.4(SPG11):c.498G>A (p.Leu166=)
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>G (p.Val1692=)
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+19T>G
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.5122-11A>C
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.519C>A (p.Ile173=)
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.5289A>C (p.Pro1763=)
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.5330_5333del (p.Thr1777fs)
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.5448G>A (p.Glu1816=)
NM_025137.4(SPG11):c.5450A>G (p.Glu1817Gly) rs2082711302
NM_025137.4(SPG11):c.5452del (p.Thr1818fs)
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.5550C>G (p.Asn1850Lys)
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.5670T>C (p.Cys1890=)
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.5767A>T (p.Ser1923Cys) rs1555448836
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.57C>T (p.Thr19=)
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+7G>A
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.5867-17C>T
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.6007-13G>C rs914339608
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.6039T>C (p.Ala2013=)
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.6120C>T (p.Ser2040=)
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.6174dup (p.Arg2059fs)
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.6206-13_6206-12insGTG
NM_025137.4(SPG11):c.6206-15C>T
NM_025137.4(SPG11):c.6206-20C>A
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.6226_6230del (p.Pro2076fs)
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.6256C>T (p.Leu2086=)
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.6271C>T (p.Gln2091Ter)
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.6285G>A (p.Leu2095=)
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>G (p.Asp2102Gly)
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.6328G>A (p.Gly2110Arg)
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+17T>C
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.6460GAG[1] (p.Glu2155del)
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+6T>G
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.6495C>T (p.Gly2165=)
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.6632G>T (p.Arg2211Leu)
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>A
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+14C>G
NM_025137.4(SPG11):c.6754+17C>A
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.6755-12T>C
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.6755-1G>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.6855G>A (p.Val2285=)
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.6936G>C (p.Met2312Ile)
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>G (p.Leu2326Val)
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+17A>T
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>C
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.7000-1G>A
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.7000-8del
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.7056C>T (p.Tyr2352=)
NM_025137.4(SPG11):c.7063_7073dup (p.Lys2358_Gly2359insTer) rs2082272406
NM_025137.4(SPG11):c.7065G>C (p.Val2355=)
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.7083del (p.Phe2361fs)
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.7148A>C (p.Lys2383Thr)
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.7209A>G (p.Thr2403=)
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.7284G>A (p.Leu2428=)
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.7323A>G (p.Leu2441=)
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.834C>T (p.Asn278=)
NM_025137.4(SPG11):c.846T>A (p.Ala282=)
NM_025137.4(SPG11):c.846T>C (p.Ala282=)
NM_025137.4(SPG11):c.852C>T (p.Asn284=)
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.863A>T (p.Tyr288Phe)
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.885C>T (p.His295=)
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.105_106del (p.Ala37fs)
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.161-1G>T
NM_031448.6(C19orf12):c.161-2A>T
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>C (p.Gly55=)
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.174G>T (p.Gly58=)
NM_031448.6(C19orf12):c.177G>T (p.Gly59=)
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.250G>T (p.Glu84Ter)
NM_031448.6(C19orf12):c.260G>A (p.Arg87Lys)
NM_031448.6(C19orf12):c.268A>G (p.Asn90Asp) rs1972180871
NM_031448.6(C19orf12):c.270C>G (p.Asn90Lys)
NM_031448.6(C19orf12):c.270C>T (p.Asn90=)
NM_031448.6(C19orf12):c.270del (p.Asn90fs) rs1555714836
NM_031448.6(C19orf12):c.271G>A (p.Glu91Lys)
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.283A>G (p.Ile95Val)
NM_031448.6(C19orf12):c.286A>G (p.Ile96Val)
NM_031448.6(C19orf12):c.286A>T (p.Ile96Phe)
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.310G>A (p.Ala104Thr)
NM_031448.6(C19orf12):c.325G>A (p.Ala109Thr)
NM_031448.6(C19orf12):c.325dup (p.Ala109fs)
NM_031448.6(C19orf12):c.334A>G (p.Met112Val)
NM_031448.6(C19orf12):c.33G>C (p.Leu11=)
NM_031448.6(C19orf12):c.342C>T (p.Ser114=)
NM_031448.6(C19orf12):c.347C>A (p.Ala116Asp)
NM_031448.6(C19orf12):c.349del (p.Leu117fs)
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_144599.5(NIPA1):c.106G>T (p.Val36Phe) rs772941328
NM_144599.5(NIPA1):c.121G>A (p.Val41Met) rs2140841479
NM_144599.5(NIPA1):c.126C>T (p.Asn42=)
NM_144599.5(NIPA1):c.12_17del (p.Ala15_Ala16del) rs1192699698
NM_144599.5(NIPA1):c.130T>G (p.Ser44Ala) rs1595626779
NM_144599.5(NIPA1):c.134C>G (p.Thr45Arg) rs104894496
NM_144599.5(NIPA1):c.139G>A (p.Val47Met)
NM_144599.5(NIPA1):c.14C>T (p.Ala5Val)
NM_144599.5(NIPA1):c.15_23del (p.Ala14_Ala16del) rs1204568027
NM_144599.5(NIPA1):c.160G>A (p.Val54Met)
NM_144599.5(NIPA1):c.166G>A (p.Ala56Thr)
NM_144599.5(NIPA1):c.179-11A>C
NM_144599.5(NIPA1):c.179-4A>G
NM_144599.5(NIPA1):c.179-9T>C
NM_144599.5(NIPA1):c.17C>G (p.Ala6Gly) rs944860201
NM_144599.5(NIPA1):c.17C>T (p.Ala6Val)
NM_144599.5(NIPA1):c.18_20dup (p.Ala16_Gly17insAla)
NM_144599.5(NIPA1):c.19G>A (p.Ala7Thr) rs1894707917
NM_144599.5(NIPA1):c.204G>A (p.Val68=)
NM_144599.5(NIPA1):c.20C>T (p.Ala7Val) rs1416457811
NM_144599.5(NIPA1):c.216C>G (p.Gly72=)
NM_144599.5(NIPA1):c.217A>C (p.Thr73Pro)
NM_144599.5(NIPA1):c.21_23del (p.Ala16del) rs769916931
NM_144599.5(NIPA1):c.21_26del (p.Ala15_Ala16del) rs1555371600
NM_144599.5(NIPA1):c.21_26dup (p.Ala15_Ala16dup) rs1555371600
NM_144599.5(NIPA1):c.21_29del (p.Ala14_Ala16del) rs1555371599
NM_144599.5(NIPA1):c.21_35del (p.Ala12_Ala16del)
NM_144599.5(NIPA1):c.21_38del (p.Ala11_Ala16del)
NM_144599.5(NIPA1):c.21_47del (p.Ala8_Ala16del)
NM_144599.5(NIPA1):c.222C>T (p.Ile74=) rs778472114
NM_144599.5(NIPA1):c.226+19G>A
NM_144599.5(NIPA1):c.226A>G (p.Met76Val)
NM_144599.5(NIPA1):c.227-5G>C
NM_144599.5(NIPA1):c.227T>C (p.Met76Thr)
NM_144599.5(NIPA1):c.228G>A (p.Met76Ile)
NM_144599.5(NIPA1):c.24G>T (p.Ala8=)
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24GGC[11] (p.Ala14_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24GGC[12] (p.Ala13_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24GGC[1] (p.Ala10_Ala16del)
NM_144599.5(NIPA1):c.24GGC[2] (p.Ala11_Ala16del)
NM_144599.5(NIPA1):c.24GGC[3] (p.Ala12_Ala16del) rs531550505
NM_144599.5(NIPA1):c.24GGC[4] (p.Ala13_Ala16del) rs531550505
NM_144599.5(NIPA1):c.24GGC[5] (p.Ala14_Ala16del) rs531550505
NM_144599.5(NIPA1):c.24GGC[6] (p.Ala15_Ala16del) rs531550505
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) rs531550505
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup) rs531550505
NM_144599.5(NIPA1):c.264G>A (p.Thr88=)
NM_144599.5(NIPA1):c.28G>A (p.Ala10Thr)
NM_144599.5(NIPA1):c.291C>A (p.Pro97=) rs199818530
NM_144599.5(NIPA1):c.291C>T (p.Pro97=) rs199818530
NM_144599.5(NIPA1):c.292C>A (p.Leu98Met) rs1235395631
NM_144599.5(NIPA1):c.299C>T (p.Ala100Val) rs1356799862
NM_144599.5(NIPA1):c.29_30insAGCGGC (p.Ala16_Gly17insAlaAla)
NM_144599.5(NIPA1):c.311C>T (p.Pro104Leu)
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) rs104894490
NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg) rs104894490
NM_144599.5(NIPA1):c.317+13A>G rs372614917
NM_144599.5(NIPA1):c.318-12T>G
NM_144599.5(NIPA1):c.318-6A>G
NM_144599.5(NIPA1):c.32C>G (p.Ala11Gly)
NM_144599.5(NIPA1):c.32C>T (p.Ala11Val)
NM_144599.5(NIPA1):c.403G>A (p.Val135Met) rs763295984
NM_144599.5(NIPA1):c.40G>A (p.Ala14Thr) rs1346667835
NM_144599.5(NIPA1):c.411T>C (p.Ile137=) rs1202986314
NM_144599.5(NIPA1):c.417C>T (p.His139=) rs2140874968
NM_144599.5(NIPA1):c.432G>A (p.Glu144=)
NM_144599.5(NIPA1):c.45G>A (p.Ala15=) rs1555371616
NM_144599.5(NIPA1):c.471C>G (p.Thr157=)
NM_144599.5(NIPA1):c.477A>G (p.Pro159=) rs2140875018
NM_144599.5(NIPA1):c.479-11C>T rs2140877624
NM_144599.5(NIPA1):c.479-7G>A rs758551462
NM_144599.5(NIPA1):c.480G>A (p.Val160=)
NM_144599.5(NIPA1):c.501C>T (p.Ile167=)
NM_144599.5(NIPA1):c.502G>A (p.Val168Met)
NM_144599.5(NIPA1):c.511A>T (p.Met171Leu) rs762651676
NM_144599.5(NIPA1):c.51G>C (p.Gly17=) rs1252900673
NM_144599.5(NIPA1):c.549T>C (p.His183=)
NM_144599.5(NIPA1):c.562A>G (p.Ile188Val)
NM_144599.5(NIPA1):c.573C>T (p.Tyr191=)
NM_144599.5(NIPA1):c.606C>T (p.Thr202=)
NM_144599.5(NIPA1):c.642A>C (p.Gln214His) rs1240373706
NM_144599.5(NIPA1):c.646A>G (p.Ile216Val)
NM_144599.5(NIPA1):c.67C>T (p.Pro23Ser)
NM_144599.5(NIPA1):c.6G>C (p.Gly2=)
NM_144599.5(NIPA1):c.701T>C (p.Leu234Pro)
NM_144599.5(NIPA1):c.702G>A (p.Leu234=)
NM_144599.5(NIPA1):c.706G>A (p.Val236Met)
NM_144599.5(NIPA1):c.731A>G (p.Gln244Arg) rs1895598333
NM_144599.5(NIPA1):c.748A>C (p.Lys250Gln) rs1489382661
NM_144599.5(NIPA1):c.765C>T (p.Phe255=) rs369533629
NM_144599.5(NIPA1):c.768C>T (p.Asp256=)
NM_144599.5(NIPA1):c.774G>T (p.Ser258=) rs371993191
NM_144599.5(NIPA1):c.795C>T (p.Tyr265=)
NM_144599.5(NIPA1):c.796G>A (p.Val266Ile)
NM_144599.5(NIPA1):c.797T>A (p.Val266Asp)
NM_144599.5(NIPA1):c.801G>A (p.Val267=)
NM_144599.5(NIPA1):c.806C>T (p.Thr269Ile) rs2140877924
NM_144599.5(NIPA1):c.837C>T (p.Leu279=) rs376319442
NM_144599.5(NIPA1):c.853A>G (p.Asn285Asp)
NM_144599.5(NIPA1):c.894C>T (p.Phe298=) rs1555374032
NM_144599.5(NIPA1):c.896C>T (p.Thr299Met) rs756976675
NM_144599.5(NIPA1):c.897G>T (p.Thr299=) rs368507906
NM_144599.5(NIPA1):c.907G>C (p.Val303Leu)
NM_144599.5(NIPA1):c.99C>T (p.Gly33=) rs1370367415
NM_152415.3(VPS37A):c.1053C>G (p.Asp351Glu) rs2285269
NM_152415.3(VPS37A):c.1081G>A (p.Asp361Asn)
NM_152415.3(VPS37A):c.1113+13C>T
NM_152415.3(VPS37A):c.1114-18C>T
NM_152415.3(VPS37A):c.1114-5T>C
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>G (p.Met389Val)
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.131C>A (p.Ala44Asp)
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.315+4T>G
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.350A>G (p.Gln117Arg)
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.417-8C>T
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.533C>G (p.Thr178Ser)
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.702C>T (p.Leu234=)
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)
Single allele

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