ClinVar Miner

List of variants studied for lymphoid system disorder by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17728
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_018344.6(SLC29A3):c.383+8A>G rs2243540 0.87959
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068 0.87306
NM_018344.6(SLC29A3):c.714T>C (p.Thr238=) rs2252997 0.87276
NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile) rs2252996 0.84751
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) rs1084004 0.84205
NM_006912.6(RIT1):c.430-7C>T rs1749409 0.80479
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_006270.5(RRAS):c.344+13G>A rs1368464 0.71978
NM_006270.5(RRAS):c.333C>T (p.Asn111=) rs1865077 0.71974
NM_032638.5(GATA2):c.1143+203A>G rs2713604 0.69604
NM_032638.5(GATA2):c.15C>G (p.Pro5=) rs1573858 0.68160
NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val) rs6791 0.67805
NM_001083116.3(PRF1):c.900C>T (p.His300=) rs885822 0.67032
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_006939.4(SOS2):c.2232C>T (p.Asn744=) rs2229869 0.60005
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=) rs7210574 0.49757
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly) rs2277257 0.47837
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741 0.45813
NM_006949.4(STXBP2):c.1356+18A>G rs889187 0.44557
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala) rs1050228 0.44445
NM_006949.4(STXBP2):c.1443T>C (p.Asp481=) rs10001 0.43223
NM_006949.4(STXBP2):c.38-7C>T rs8104339 0.42983
NM_000081.4(LYST):c.1251A>G (p.Gln417=) rs1063128 0.41864
NM_000081.4(LYST):c.1683A>G (p.Leu561=) rs3820553 0.41844
NM_000081.4(LYST):c.4956A>G (p.Leu1652=) rs6696123 0.41826
NM_000081.4(LYST):c.5373G>A (p.Lys1791=) rs2273584 0.41769
NM_002435.3(MPI):c.345+15G>A rs11638130 0.35866
NM_006939.4(SOS2):c.88-6T>C rs12888783 0.31349
NM_199242.3(UNC13D):c.117+59C>T rs3744010 0.31218
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_199242.3(UNC13D):c.154-19G>A rs3744009 0.24392
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_006270.5(RRAS):c.454-10C>G rs731861 0.23663
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239 0.19762
NM_199242.3(UNC13D):c.1992+5G>A rs17581728 0.19407
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_032638.5(GATA2):c.*482C>T rs3803 0.17918
NM_032638.5(GATA2):c.1018-19C>T rs11708606 0.17884
NM_032638.5(GATA2):c.490G>A (p.Ala164Thr) rs2335052 0.17829
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626 0.17070
NM_001083116.3(PRF1):c.822C>T (p.Ala274=) rs885821 0.16394
NM_000543.5(SMPD1):c.636T>C (p.Asp212=) rs7951904 0.15081
NM_006939.4(SOS2):c.3490-18A>C rs79858475 0.14981
NM_000081.4(LYST):c.153A>C (p.Gly51=) rs11464 0.13219
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NC_000018.10:g.23586581G>C rs8099071 0.11990
NM_000081.4(LYST):c.2355T>C (p.Leu785=) rs3768066 0.10928
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691 0.10133
NM_005045.4(RELN):c.1776A>G (p.Glu592=) rs2072403 0.09661
NM_000081.4(LYST):c.4392C>T (p.Asn1464=) rs11583387 0.09239
NM_006949.4(STXBP2):c.1696+20A>G rs2303113 0.08971
NM_199242.3(UNC13D):c.2943G>A (p.Glu981=) rs35628234 0.07237
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043 0.05938
NM_000081.4(LYST):c.2316C>T (p.Asp772=) rs16832868 0.05899
NM_000081.4(LYST):c.5847G>C (p.Gln1949His) rs6665568 0.05891
NM_000081.4(LYST):c.6630A>G (p.Glu2210=) rs34466404 0.05877
NM_003664.5(AP3B1):c.1969-10G>A rs77009095 0.05363
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146 0.04676
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_000081.4(LYST):c.574T>G (p.Leu192Val) rs7524261 0.04386
NM_005045.4(RELN):c.4588+14T>C rs362810 0.04203
NM_006949.4(STXBP2):c.1247-10C>T rs61407177 0.04087
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154 0.04078
NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp) rs35333195 0.04044
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_003764.4(STX11):c.829A>G (p.Thr277Ala) rs9496891 0.03773
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_000543.5(SMPD1):c.714A>G (p.Ala238=) rs2682091 0.03664
NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn) rs10465613 0.03661
NM_018344.6(SLC29A3):c.597G>A (p.Gln199=) rs16928737 0.03555
NM_005045.4(RELN):c.7530C>T (p.Pro2510=) rs2075038 0.03404
NM_005045.4(RELN):c.5351+3A>G rs6967725 0.03307
NM_000081.4(LYST):c.5923-19G>T rs141197189 0.03063
NM_000081.4(LYST):c.7857T>C (p.His2619=) rs34160788 0.02966
NM_000081.4(LYST):c.6900G>A (p.Leu2300=) rs10926586 0.02954
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_199242.3(UNC13D):c.1744C>T (p.Leu582=) rs75853379 0.02622
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_199242.3(UNC13D):c.1977C>T (p.Thr659=) rs2290770 0.02469
NM_000271.5(NPC1):c.1947+17T>G rs879174633 0.02464
NM_005045.4(RELN):c.5831T>G (p.Phe1944Cys) rs77664442 0.02460
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=) rs76433453 0.02452
NM_006949.4(STXBP2):c.*12G>A rs28464386 0.02393
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241 0.02388
NM_005045.4(RELN):c.6672-15G>A rs73418565 0.02349
NM_005045.4(RELN):c.1888A>C (p.Ser630Arg) rs115734214 0.02229
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088 0.02130
NM_005045.4(RELN):c.26A>C (p.Gln9Pro) rs115165703 0.02037
NM_002435.3(MPI):c.684C>T (p.Asn228=) rs139190144 0.01985
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746 0.01926
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_000543.5(SMPD1):c.106_107insCGC (p.Val36delinsAlaLeu) rs767539123 0.01904
NM_199242.3(UNC13D):c.262-17G>A rs142996967 0.01903
NM_005045.4(RELN):c.4589-8T>G rs362801 0.01890
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=) rs35098198 0.01843
NM_005045.4(RELN):c.6672-16C>T rs79610318 0.01836
NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro) rs79737301 0.01835
NM_018344.6(SLC29A3):c.831C>T (p.Pro277=) rs61737431 0.01828
NM_018344.6(SLC29A3):c.304T>C (p.Tyr102His) rs77339410 0.01738
NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys) rs35037984 0.01713
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_199242.3(UNC13D):c.951+13T>G rs140758914 0.01637
NM_003664.5(AP3B1):c.1364-18A>G rs112329411 0.01617
NM_005045.4(RELN):c.10182-11G>A rs57844600 0.01613
NM_000543.5(SMPD1):c.807C>T (p.Ala269=) rs35933246 0.01598
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) rs74053349 0.01580
NM_000271.5(NPC1):c.1947+14G>T rs3745024 0.01574
NM_005045.4(RELN):c.8950+16G>A rs76565991 0.01546
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_001083116.3(PRF1):c.462A>G (p.Ala154=) rs116554195 0.01461
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr) rs9904366 0.01403
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_005045.4(RELN):c.9903C>T (p.Tyr3301=) rs73714404 0.01371
NM_003664.5(AP3B1):c.1095+17C>T rs58284777 0.01316
NM_199242.3(UNC13D):c.3252T>C (p.His1084=) rs61753922 0.01313
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962 0.01305
NM_001083116.3(PRF1):c.726C>T (p.Cys242=) rs35329429 0.01263
NM_199242.3(UNC13D):c.1992+11T>C rs112501965 0.01262
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375 0.01251
NM_005045.4(RELN):c.6671+8T>C rs362758 0.01237
NM_002435.3(MPI):c.345+16C>T rs143242949 0.01224
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr) rs115640958 0.01215
NM_006949.4(STXBP2):c.613G>A (p.Val205Ile) rs144586070 0.01200
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_006949.4(STXBP2):c.795-4C>T rs151257815 0.01197
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu) rs55689103 0.01176
NM_000081.4(LYST):c.9C>T (p.Thr3=) rs33998267 0.01172
NM_001083116.3(PRF1):c.435G>A (p.Val145=) rs115281140 0.01164
NM_018344.6(SLC29A3):c.300+3A>G rs7083031 0.01144
NM_005045.4(RELN):c.9714C>T (p.His3238=) rs78218774 0.01139
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe) rs55661958 0.01066
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536 0.01065
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902 0.01040
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_003664.5(AP3B1):c.2810-4C>T rs115340604 0.01015
NM_006949.4(STXBP2):c.849G>A (p.Glu283=) rs34450592 0.00997
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_006949.4(STXBP2):c.169+12C>T rs115239774 0.00930
NM_006949.4(STXBP2):c.1590G>A (p.Ala530=) rs61736589 0.00904
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) rs61736586 0.00892
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_002435.3(MPI):c.762C>T (p.Ile254=) rs12440159 0.00855
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_001083116.3(PRF1):c.702G>A (p.Ser234=) rs138508223 0.00843
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_003764.4(STX11):c.146G>A (p.Arg49Gln) rs17073498 0.00767
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_199242.3(UNC13D):c.2298+15C>T rs112341334 0.00741
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660 0.00711
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) rs76836497 0.00700
NM_005045.4(RELN):c.6078C>T (p.Asn2026=) rs79610081 0.00676
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln) rs2634197 0.00668
NM_005045.4(RELN):c.9524A>C (p.His3175Pro) rs74513461 0.00648
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln) rs113467489 0.00629
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_000081.4(LYST):c.7059+7G>A rs111764031 0.00582
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly) rs112601869 0.00580
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=) rs144475533 0.00560
NM_005045.4(RELN):c.621C>T (p.Asp207=) rs114627891 0.00558
NM_003764.4(STX11):c.799G>A (p.Val267Met) rs45574234 0.00545
NM_005045.4(RELN):c.1075G>A (p.Val359Ile) rs114926265 0.00535
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) rs146503597 0.00517
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_005045.4(RELN):c.4937-15A>T rs2711839 0.00514
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_005045.4(RELN):c.1824C>T (p.Cys608=) rs79620906 0.00502
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771 0.00500
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_018344.6(SLC29A3):c.488G>T (p.Gly163Val) rs143557881 0.00485
NM_006432.5(NPC2):c.190+14G>A rs189666920 0.00476
NM_005045.4(RELN):c.3712A>C (p.Asn1238His) rs114003896 0.00468
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_005045.4(RELN):c.5775A>G (p.Arg1925=) rs2711866 0.00464
NM_000271.5(NPC1):c.3535A>G (p.Met1179Val) rs61731969 0.00459
NM_001083116.3(PRF1):c.96G>A (p.Lys32=) rs2228018 0.00448
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_002435.3(MPI):c.144+16T>A rs138182675 0.00434
NM_002435.3(MPI):c.144+18T>A rs186045258 0.00434
NM_002435.3(MPI):c.144+20T>A rs190812626 0.00434
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_000271.5(NPC1):c.882-40T>A rs144469784 0.00420
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp) rs142105943 0.00417
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_005045.4(RELN):c.4986C>G (p.Thr1662=) rs78221963 0.00412
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033 0.00400
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_018344.6(SLC29A3):c.618C>T (p.Ala206=) rs141413620 0.00398
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904 0.00394
NM_000081.4(LYST):c.4863-19T>C rs150288597 0.00393
NM_001083116.3(PRF1):c.444C>T (p.Ala148=) rs61737403 0.00389
NM_018344.6(SLC29A3):c.2-17C>T rs80223748 0.00381
NM_199242.3(UNC13D):c.569+19G>A rs61753875 0.00381
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560 0.00377
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669 0.00374
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00374
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile) rs142178073 0.00371
NM_003664.5(AP3B1):c.1838-19T>G rs140840619 0.00367
NM_006949.4(STXBP2):c.609C>T (p.His203=) rs113694233 0.00367
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys) rs114647348 0.00354
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235 0.00352
NM_000081.4(LYST):c.5291G>C (p.Gly1764Ala) rs35413645 0.00350
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_199242.3(UNC13D):c.2554-16C>T rs184354110 0.00346
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp) rs191501191 0.00327
NM_005045.4(RELN):c.565C>T (p.His189Tyr) rs115806540 0.00319
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr) rs146091043 0.00315
NM_032638.5(GATA2):c.748C>G (p.Pro250Ala) rs78245253 0.00309
NM_032638.5(GATA2):c.*183C>T rs45598538 0.00308
NM_012388.4(BLOC1S6):c.34G>A (p.Ala12Thr) rs145762743 0.00306
NM_000081.4(LYST):c.3359G>T (p.Ser1120Ile) rs143223086 0.00302
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971 0.00300
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343 0.00300
NM_005045.4(RELN):c.7086C>T (p.Thr2362=) rs362747 0.00300
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_001083116.3(PRF1):c.403G>A (p.Val135Met) rs12263572 0.00293
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
NM_005045.4(RELN):c.6228C>T (p.Ser2076=) rs115379833 0.00291
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240 0.00287
NM_005045.4(RELN):c.906C>T (p.Ala302=) rs114494558 0.00287
NM_018344.6(SLC29A3):c.1137C>T (p.Leu379=) rs115006556 0.00287
NM_005045.4(RELN):c.2466-6C>T rs1167948188 0.00286
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_005045.4(RELN):c.416C>G (p.Thr139Ser) rs79471015 0.00283
NM_000271.5(NPC1):c.1071G>A (p.Ser357=) rs61731964 0.00282
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp) rs150306354 0.00280
NM_000081.4(LYST):c.5223T>C (p.Leu1741=) rs7530527 0.00277
NM_000081.4(LYST):c.1384C>T (p.Pro462Ser) rs77848653 0.00276
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_003764.4(STX11):c.546G>A (p.Glu182=) rs146949718 0.00274
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_032638.5(GATA2):c.66C>G (p.Pro22=) rs113384352 0.00264
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser) rs144665176 0.00255
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_000271.5(NPC1):c.463+19A>G rs117512587 0.00252
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_018344.6(SLC29A3):c.1146C>T (p.Phe382=) rs148092033 0.00239
NM_000081.4(LYST):c.597C>G (p.Asp199Glu) rs112127610 0.00238
NM_003664.5(AP3B1):c.1040+9T>A rs201876461 0.00237
NM_183235.3(RAB27A):c.468-3C>T rs113895512 0.00237
NM_012388.4(BLOC1S6):c.82+10A>G rs370370639 0.00235
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile) rs143213152 0.00232
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371 0.00231
NM_006949.4(STXBP2):c.365G>A (p.Arg122His) rs144914451 0.00229
NM_018344.6(SLC29A3):c.128T>G (p.Leu43Arg) rs146764905 0.00229
NM_032638.5(GATA2):c.333C>T (p.His111=) rs148554346 0.00228
NM_002435.3(MPI):c.414G>A (p.Met138Ile) rs150217523 0.00227
NM_005045.4(RELN):c.8811G>A (p.Ala2937=) rs144728023 0.00226
NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys) rs12161733 0.00220
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_005045.4(RELN):c.9321C>T (p.Leu3107=) rs150387973 0.00218
NM_003764.4(STX11):c.839G>A (p.Cys280Tyr) rs34282765 0.00215
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_005045.4(RELN):c.1442-8T>C rs181761096 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_006949.4(STXBP2):c.1538+10C>T rs139200597 0.00210
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672 0.00204
NM_199242.3(UNC13D):c.2091+16G>T rs10401023 0.00202
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_199242.3(UNC13D):c.2831-20A>T rs149809768 0.00199
NM_005045.4(RELN):c.2303+16G>T rs188276472 0.00198
NM_199242.3(UNC13D):c.2955-14G>C rs138462345 0.00196
NM_006949.4(STXBP2):c.1459G>A (p.Val487Met) rs150174842 0.00195
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met) rs140806787 0.00192
NM_005045.4(RELN):c.8120-9T>C rs74952625 0.00190
NM_018344.6(SLC29A3):c.383+6C>T rs77626641 0.00190
NM_005045.4(RELN):c.1377G>A (p.Arg459=) rs73712207 0.00185
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_001083116.3(PRF1):c.1560C>T (p.Arg520=) rs147087107 0.00175
NM_005045.4(RELN):c.3008+11A>G rs186983114 0.00174
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) rs145553827 0.00171
NM_005045.4(RELN):c.246C>G (p.Thr82=) rs113242008 0.00171
NM_199242.3(UNC13D):c.1056-13C>T rs141030299 0.00169
NM_006949.4(STXBP2):c.495C>T (p.Arg165=) rs2303116 0.00164
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_199242.3(UNC13D):c.2828A>G (p.Asn943Ser) rs147748627 0.00158
NM_005045.4(RELN):c.8275-19T>C rs149567032 0.00156
NM_005045.4(RELN):c.77C>T (p.Ala26Val) rs144557847 0.00154
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met) rs78028658 0.00153
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_018344.6(SLC29A3):c.74G>A (p.Arg25Gln) rs138976786 0.00149
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_000543.5(SMPD1):c.1340+7C>T rs116480929 0.00144
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=) rs146425381 0.00142
NM_018344.6(SLC29A3):c.687C>T (p.Ser229=) rs113542201 0.00142
NM_000081.4(LYST):c.6632C>G (p.Pro2211Arg) rs138972355 0.00140
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479 0.00140
NM_001083116.3(PRF1):c.873C>T (p.Ser291=) rs149008090 0.00139
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_199242.3(UNC13D):c.567C>A (p.Ile189=) rs147903551 0.00134
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_006949.4(STXBP2):c.246+18C>T rs201657700 0.00133
NM_006270.5(RRAS):c.568G>C (p.Val190Leu) rs2230917 0.00128
NM_005045.4(RELN):c.7181-19A>G rs187689137 0.00127
NM_000081.4(LYST):c.8487C>T (p.Ile2829=) rs144597913 0.00126
NM_012388.4(BLOC1S6):c.224+17C>A rs142188315 0.00126
NM_005045.4(RELN):c.3123C>T (p.Gly1041=) rs41276148 0.00123
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg) rs138124318 0.00121
NM_199242.3(UNC13D):c.547G>A (p.Val183Ile) rs141692294 0.00115
NM_003664.5(AP3B1):c.375+11G>A rs190638302 0.00114
NM_005045.4(RELN):c.3424T>A (p.Ser1142Thr) rs145484343 0.00114
NM_001083116.3(PRF1):c.528C>T (p.Cys176=) rs138588977 0.00113
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_006270.5(RRAS):c.379C>T (p.Leu127=) rs145907892 0.00111
NM_000081.4(LYST):c.4548C>T (p.Ser1516=) rs116551057 0.00108
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu) rs151014532 0.00107
NM_000081.4(LYST):c.7506A>G (p.Gln2502=) rs140434436 0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_005045.4(RELN):c.474-7T>C rs55693709 0.00105
NM_005045.4(RELN):c.5880A>G (p.Thr1960=) rs362793 0.00105
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_000543.5(SMPD1):c.762G>A (p.Leu254=) rs143939609 0.00104
NM_199242.3(UNC13D):c.2625+19C>T rs188535511 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000543.5(SMPD1):c.1091+9C>T rs143612450 0.00103
NM_000081.4(LYST):c.11382C>T (p.Phe3794=) rs111770759 0.00102
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_006949.4(STXBP2):c.960+18T>A rs200402185 0.00101
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_005045.4(RELN):c.4748-11T>C rs201494847 0.00098
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) rs362800 0.00098
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241 0.00098
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_199242.3(UNC13D):c.24G>A (p.Pro8=) rs143320460 0.00095
NM_000081.4(LYST):c.6588A>G (p.Gly2196=) rs34423788 0.00093
NM_003664.5(AP3B1):c.942G>A (p.Ala314=) rs146871001 0.00093
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_005045.4(RELN):c.577+7G>T rs188372756 0.00091
NM_006949.4(STXBP2):c.822G>A (p.Ala274=) rs138099253 0.00090
NM_199242.3(UNC13D):c.99G>A (p.Pro33=) rs147886860 0.00090
NM_001083116.3(PRF1):c.615C>T (p.Asn205=) rs141130900 0.00088
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_000081.4(LYST):c.2769A>C (p.Ser923=) rs112739986 0.00086
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile) rs113209379 0.00086
NM_003764.4(STX11):c.616G>A (p.Glu206Lys) rs145347140 0.00086
NM_006270.5(RRAS):c.573-12G>A rs201690554 0.00086
NM_000081.4(LYST):c.3507C>T (p.Leu1169=) rs74861744 0.00083
NM_000271.5(NPC1):c.631+17C>T rs115397659 0.00083
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=) rs149776121 0.00083
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_003764.4(STX11):c.83C>T (p.Ser28Leu) rs143547259 0.00082
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
NM_005045.4(RELN):c.4182A>G (p.Ser1394=) rs147496823 0.00080
NM_006949.4(STXBP2):c.846C>T (p.Asp282=) rs143108973 0.00080
NM_000271.5(NPC1):c.1947+8G>C rs66620415 0.00078
NM_001083116.3(PRF1):c.1229G>A (p.Arg410Gln) rs150558419 0.00077
NM_003764.4(STX11):c.26T>G (p.Leu9Arg) rs34470310 0.00076
NM_005045.4(RELN):c.3913-9T>C rs372473867 0.00076
NM_018344.6(SLC29A3):c.946T>G (p.Phe316Val) rs139066012 0.00076
NM_000081.4(LYST):c.7229+3A>G rs529306869 0.00074
NM_000271.5(NPC1):c.2604+14_2604+16del rs747422358 0.00074
NM_000271.5(NPC1):c.57+11G>C rs548958639 0.00074
NM_001083116.3(PRF1):c.240A>T (p.Leu80=) rs140752768 0.00074
NM_000081.4(LYST):c.10235G>A (p.Arg3412His) rs148409403 0.00073
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912 0.00073
NM_003764.4(STX11):c.681C>T (p.Leu227=) rs145774130 0.00073
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu) rs144852879 0.00073
NM_000543.5(SMPD1):c.297C>G (p.Thr99=) rs146630228 0.00072
NM_005045.4(RELN):c.1035A>G (p.Leu345=) rs113998363 0.00072
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn) rs148509350 0.00071
NM_006270.5(RRAS):c.453+20C>T rs117957448 0.00071
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu) rs113660113 0.00071
NM_000081.4(LYST):c.6455G>A (p.Ser2152Asn) rs147761755 0.00070
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216 0.00070
NM_199242.3(UNC13D):c.1389+12G>A rs199536082 0.00070
NM_199242.3(UNC13D):c.2052C>G (p.Leu684=) rs150861045 0.00070
NM_000543.5(SMPD1):c.1340+12A>T rs140221837 0.00069
NM_199242.3(UNC13D):c.1232G>A (p.Arg411Gln) rs200109035 0.00067
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_005045.4(RELN):c.6962C>T (p.Thr2321Met) rs116065504 0.00064
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_005045.4(RELN):c.9605+19T>C rs202052256 0.00063
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551 0.00063
NM_199242.3(UNC13D):c.858+12A>C rs191712530 0.00063
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
NM_005045.4(RELN):c.5615-12T>C rs375680075 0.00062
NM_000081.4(LYST):c.8368A>C (p.Lys2790Gln) rs138506576 0.00061
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_001083116.3(PRF1):c.1428G>A (p.Gly476=) rs145695221 0.00061
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg) rs555945363 0.00061
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760 0.00061
NM_006949.4(STXBP2):c.165C>T (p.Ile55=) rs11538945 0.00060
NM_199242.3(UNC13D):c.1174-15C>G rs374069629 0.00059
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_199242.3(UNC13D):c.2893G>A (p.Ala965Thr) rs144744401 0.00058
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn) rs143948239 0.00057
NM_006270.5(RRAS):c.154-4C>G rs372925843 0.00057
NM_199242.3(UNC13D):c.2710-8C>G rs545824447 0.00057
NM_005045.4(RELN):c.3147-4A>G rs375230548 0.00056
NM_199242.3(UNC13D):c.1389+14G>A rs113956688 0.00056
NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=) rs372034111 0.00056
NM_005045.4(RELN):c.7644G>A (p.Ser2548=) rs150743664 0.00055
NM_006270.5(RRAS):c.174C>T (p.Tyr58=) rs145282813 0.00055
NM_000081.4(LYST):c.4637C>T (p.Ala1546Val) rs142983846 0.00054
NM_005045.4(RELN):c.6939T>C (p.Ile2313=) rs113498433 0.00054
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_003664.5(AP3B1):c.3131+5G>T rs191616060 0.00053
NM_006939.4(SOS2):c.700C>T (p.Leu234=) rs145848231 0.00053
NM_006949.4(STXBP2):c.816C>T (p.Ser272=) rs78010345 0.00053
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile) rs147221131 0.00052
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile) rs149939736 0.00051
NM_032638.5(GATA2):c.279G>A (p.Pro93=) rs142993548 0.00051
NM_199242.3(UNC13D):c.2553+5C>G rs201930023 0.00051
NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val) rs150952348 0.00051
NM_005045.4(RELN):c.1386C>T (p.Cys462=) rs139321058 0.00050
NM_005045.4(RELN):c.7580C>A (p.Ser2527Tyr) rs114620403 0.00050
NM_199242.3(UNC13D):c.2783G>A (p.Arg928His) rs113461073 0.00050
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys) rs150636017 0.00049
NM_005045.4(RELN):c.5145A>G (p.Ser1715=) rs113229231 0.00049
NM_000543.5(SMPD1):c.319-17C>A rs148370501 0.00048
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg) rs140934482 0.00047
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His) rs148035987 0.00047
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=) rs112652327 0.00047
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_012388.4(BLOC1S6):c.252A>T (p.Thr84=) rs114872740 0.00047
NM_018344.6(SLC29A3):c.630G>A (p.Thr210=) rs148484611 0.00047
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln) rs138936105 0.00046
NM_000081.4(LYST):c.143A>G (p.His48Arg) rs200132460 0.00046
NM_002435.3(MPI):c.670+11T>C rs144118442 0.00046
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589 0.00046
NM_005045.4(RELN):c.226+16C>T rs201261973 0.00046
NM_005045.4(RELN):c.5530-18A>G rs188302870 0.00046
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654 0.00046
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_006939.4(SOS2):c.346-10C>G rs146395803 0.00046
NM_018344.6(SLC29A3):c.610+16C>T rs202017138 0.00046
NM_000081.4(LYST):c.3217A>G (p.Ile1073Val) rs151130915 0.00045
NM_000271.5(NPC1):c.1766A>G (p.Asn589Ser) rs147021046 0.00045
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007 0.00045
NM_001083116.3(PRF1):c.1041C>T (p.His347=) rs150104693 0.00045
NM_001083116.3(PRF1):c.286C>A (p.Arg96=) rs144024245 0.00045
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193 0.00045
NM_199242.3(UNC13D):c.2368-5C>T rs180768962 0.00045
NM_001083116.3(PRF1):c.368G>A (p.Arg123His) rs139336186 0.00044
NM_199242.3(UNC13D):c.2278G>A (p.Val760Ile) rs143264522 0.00044
NM_000081.4(LYST):c.3208A>G (p.Ile1070Val) rs150321124 0.00043
NM_000081.4(LYST):c.692A>G (p.Gln231Arg) rs147433918 0.00043
NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys) rs141660796 0.00043
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_018344.6(SLC29A3):c.688G>A (p.Ala230Thr) rs147701543 0.00043
NM_000081.4(LYST):c.6682G>C (p.Asp2228His) rs150270086 0.00042
NM_006939.4(SOS2):c.2162-10C>T rs375702667 0.00042
NM_018344.6(SLC29A3):c.629C>T (p.Thr210Met) rs146654579 0.00042
NM_000271.5(NPC1):c.1553+18A>G rs373017634 0.00041
NM_001083116.3(PRF1):c.1377C>T (p.Pro459=) rs2228019 0.00041
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) rs34089426 0.00041
NM_005045.4(RELN):c.5344C>T (p.Arg1782Cys) rs138576725 0.00041
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_006939.4(SOS2):c.2959-20T>C rs375042033 0.00041
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010 0.00041
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994 0.00041
NM_006939.4(SOS2):c.969+20T>G rs559272877 0.00041
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_032638.5(GATA2):c.1173A>G (p.Glu391=) rs145076941 0.00041
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342 0.00040
NM_006949.4(STXBP2):c.185A>G (p.Asn62Ser) rs540968221 0.00040
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_000081.4(LYST):c.9198C>T (p.Ser3066=) rs543359133 0.00039
NM_001083116.3(PRF1):c.807C>T (p.His269=) rs147453010 0.00039
NM_003664.5(AP3B1):c.38G>C (p.Gly13Ala) rs139760966 0.00039
NM_005045.4(RELN):c.7180+12G>A rs142041722 0.00039
NM_018344.6(SLC29A3):c.300+10del rs770787764 0.00039
NM_000081.4(LYST):c.1655T>C (p.Val552Ala) rs199617821 0.00038
NM_005045.4(RELN):c.5136G>A (p.Thr1712=) rs147933593 0.00038
NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser) rs200409290 0.00038
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr) rs143166880 0.00038
NM_005045.4(RELN):c.6519C>T (p.Phe2173=) rs146913017 0.00036
NM_006949.4(STXBP2):c.1286C>T (p.Ala429Val) rs199924392 0.00036
NM_018344.6(SLC29A3):c.1134G>A (p.Ala378=) rs141392389 0.00036
NM_183235.3(RAB27A):c.399C>T (p.Asn133=) rs577958598 0.00036
NM_001083116.3(PRF1):c.1140G>A (p.Pro380=) rs144926997 0.00035
NM_003664.5(AP3B1):c.279+16A>G rs199804239 0.00035
NM_000081.4(LYST):c.2946T>C (p.Tyr982=) rs145892183 0.00034
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943 0.00034
NM_000271.5(NPC1):c.1937G>A (p.Arg646His) rs112387560 0.00034
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys) rs140202512 0.00034
NM_005045.4(RELN):c.1483A>G (p.Ile495Val) rs150850005 0.00034
NM_005045.4(RELN):c.2754A>G (p.Gln918=) rs114620008 0.00034
NM_005045.4(RELN):c.8946T>C (p.Asp2982=) rs146294622 0.00034
NM_005045.4(RELN):c.9606-15C>A rs369225933 0.00034
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871 0.00034
NM_199242.3(UNC13D):c.1215C>T (p.Tyr405=) rs143184345 0.00034
NM_199242.3(UNC13D):c.444G>A (p.Gly148=) rs373551579 0.00034
NM_000543.5(SMPD1):c.1091+10G>A rs148067213 0.00033
NM_003764.4(STX11):c.589G>A (p.Val197Met) rs141499372 0.00033
NM_005045.4(RELN):c.877G>A (p.Asp293Asn) rs200289289 0.00033
NM_005045.4(RELN):c.9825C>T (p.Ser3275=) rs149713137 0.00033
NM_018344.6(SLC29A3):c.325G>A (p.Val109Ile) rs138640615 0.00033
NM_000081.4(LYST):c.4863-4G>A rs201382097 0.00032
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg) rs147899661 0.00032
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178 0.00032
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys) rs147657490 0.00032
NM_006949.4(STXBP2):c.1772C>A (p.Ala591Asp) rs150701487 0.00032
NM_000081.4(LYST):c.2313G>A (p.Gln771=) rs147220685 0.00031
NM_000081.4(LYST):c.6782G>A (p.Arg2261His) rs147791378 0.00031
NM_002435.3(MPI):c.214A>C (p.Ser72Arg) rs146699267 0.00031
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) rs144653976 0.00031
NM_005045.4(RELN):c.2944A>C (p.Ile982Leu) rs143972828 0.00031
NM_005045.4(RELN):c.4275A>G (p.Gly1425=) rs141617635 0.00031
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln) rs199553777 0.00031
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val) rs147026512 0.00031
NM_005045.4(RELN):c.9340A>G (p.Ile3114Val) rs149613347 0.00031
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg) rs142075589 0.00031
NM_006432.5(NPC2):c.273T>C (p.Asp91=) rs151071820 0.00031
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136 0.00031
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met) rs181216956 0.00031
NM_012388.4(BLOC1S6):c.79C>T (p.Pro27Ser) rs138284359 0.00031
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407 0.00031
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=) rs144730861 0.00030
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_000081.4(LYST):c.3394-14T>C rs372892911 0.00029
NM_000081.4(LYST):c.8268C>T (p.His2756=) rs141534829 0.00029
NM_000271.5(NPC1):c.3246-8C>T rs145227129 0.00029
NM_000543.5(SMPD1):c.338G>A (p.Arg113His) rs149770879 0.00029
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser) rs145463632 0.00029
NM_001083116.3(PRF1):c.1106C>T (p.Thr369Met) rs201584464 0.00029
NM_001083116.3(PRF1):c.163C>T (p.Arg55Cys) rs201032696 0.00029
NM_005045.4(RELN):c.5643G>A (p.Leu1881=) rs141387255 0.00029
NM_005045.4(RELN):c.5796C>T (p.Asn1932=) rs200299096 0.00029
NM_005045.4(RELN):c.6672-10C>A rs372225140 0.00029
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_006270.5(RRAS):c.345-4G>A rs377672475 0.00029
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728 0.00029
NM_006949.4(STXBP2):c.1128C>T (p.Asp376=) rs201407516 0.00029
NM_006949.4(STXBP2):c.578+12A>C rs1245371852 0.00029
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met) rs147552838 0.00029
NM_199242.3(UNC13D):c.2830+7G>A rs201023196 0.00029
NM_199242.3(UNC13D):c.972C>T (p.Asp324=) rs368990813 0.00029
NM_005045.4(RELN):c.2827C>T (p.His943Tyr) rs190615928 0.00028
NM_199242.3(UNC13D):c.1725G>A (p.Glu575=) rs150521730 0.00028
NM_000081.4(LYST):c.368A>G (p.His123Arg) rs3768067 0.00027
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln) rs140787739 0.00027
NM_002435.3(MPI):c.819C>T (p.Asn273=) rs576592379 0.00027
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=) rs115747826 0.00027
NM_005045.4(RELN):c.9369+12T>C rs140080276 0.00027
NM_006270.5(RRAS):c.454-9T>C rs1490597941 0.00027
NM_006432.5(NPC2):c.450T>C (p.His150=) rs374489111 0.00027
NM_006939.4(SOS2):c.294A>G (p.Lys98=) rs149713664 0.00027
NM_006939.4(SOS2):c.315G>T (p.Leu105=) rs141575190 0.00027
NM_006949.4(STXBP2):c.1357-13G>A rs370994106 0.00027
NM_199242.3(UNC13D):c.1072A>G (p.Ser358Gly) rs570657599 0.00027
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr) rs201513511 0.00026
NM_000081.4(LYST):c.7368T>C (p.Asn2456=) rs199631995 0.00026
NM_001083116.3(PRF1):c.489C>T (p.His163=) rs143546173 0.00026
NM_001083116.3(PRF1):c.945G>A (p.Leu315=) rs138159445 0.00026
NM_002435.3(MPI):c.1050G>A (p.Thr350=) rs145431554 0.00026
NM_005045.4(RELN):c.2868C>T (p.His956=) rs362694 0.00026
NM_005045.4(RELN):c.3060C>T (p.Asp1020=) rs115886170 0.00026
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) rs115577014 0.00026
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp) rs373359206 0.00026
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys) rs117609949 0.00025
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_001083116.3(PRF1):c.161G>A (p.Arg54His) rs150357196 0.00025
NM_002435.3(MPI):c.671-4T>G rs199719453 0.00025
NM_003764.4(STX11):c.228G>C (p.Met76Ile) rs141487068 0.00025
NM_005045.4(RELN):c.1144-15T>C rs2301560 0.00025
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly) rs138598422 0.00025
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) rs114190729 0.00025
NM_006949.4(STXBP2):c.285G>A (p.Pro95=) rs150567570 0.00025
NM_002435.3(MPI):c.908T>C (p.Ile303Thr) rs139866632 0.00024
NM_003664.5(AP3B1):c.1168-9C>T rs367648410 0.00024
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=) rs142938290 0.00024
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg) rs143050366 0.00024
NM_005045.4(RELN):c.4872A>G (p.Gln1624=) rs149121159 0.00024
NM_005045.4(RELN):c.59C>T (p.Thr20Met) rs145135688 0.00024
NM_005045.4(RELN):c.6278A>C (p.His2093Pro) rs149152189 0.00024
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_006949.4(STXBP2):c.167C>T (p.Thr56Ile) rs138007892 0.00024
NM_000081.4(LYST):c.10053G>A (p.Ser3351=) rs146872810 0.00023
NM_000543.5(SMPD1):c.1626A>C (p.Arg542=) rs774163596 0.00023
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His) rs141832130 0.00023
NM_006270.5(RRAS):c.345-19C>G rs369700575 0.00023
NM_032638.5(GATA2):c.177C>T (p.Tyr59=) rs146150325 0.00023
NM_199242.3(UNC13D):c.2447+19C>T rs775204018 0.00023
NM_000081.4(LYST):c.2754G>A (p.Glu918=) rs373577384 0.00022
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp) rs140944484 0.00022
NM_000271.5(NPC1):c.181-15T>C rs375367730 0.00022
NM_000271.5(NPC1):c.471C>T (p.Tyr157=) rs145101354 0.00022
NM_002435.3(MPI):c.573C>T (p.Ala191=) rs200903491 0.00022
NM_005045.4(RELN):c.2303+14G>A rs377268631 0.00022
NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp) rs144387303 0.00022
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn) rs148607507 0.00022
NM_006939.4(SOS2):c.3075+19C>T rs200459376 0.00022
NM_018344.6(SLC29A3):c.1202G>A (p.Arg401His) rs199861210 0.00022
NM_032638.5(GATA2):c.1416G>A (p.Pro472=) rs376805544 0.00022
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_199242.3(UNC13D):c.1818G>A (p.Ala606=) rs200621516 0.00022
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_000081.4(LYST):c.4006+8G>A rs369153654 0.00021
NM_000081.4(LYST):c.9045-13T>C rs181450025 0.00021
NM_000081.4(LYST):c.997C>T (p.His333Tyr) rs140821981 0.00021
NM_000271.5(NPC1):c.1480G>A (p.Val494Met) rs199812609 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) rs144978163 0.00021
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) rs201422815 0.00021
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_006949.4(STXBP2):c.1396A>T (p.Met466Leu) rs146685108 0.00021
NM_006949.4(STXBP2):c.366T>C (p.Arg122=) rs1375830574 0.00021
NM_006949.4(STXBP2):c.387G>A (p.Thr129=) rs369507304 0.00021
NM_006949.4(STXBP2):c.988C>T (p.Leu330=) rs377258419 0.00021
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_199242.3(UNC13D):c.1759C>T (p.Arg587Cys) rs148574729 0.00021
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu) rs200511787 0.00020
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln) rs766259420 0.00020
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358 0.00020
NM_032638.5(GATA2):c.1143+20G>T rs374234165 0.00020
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser) rs139564938 0.00020
NM_000081.4(LYST):c.1674G>A (p.Leu558=) rs149520131 0.00019
NM_000081.4(LYST):c.5033T>C (p.Val1678Ala) rs151337641 0.00019
NM_000081.4(LYST):c.9552G>T (p.Leu3184Phe) rs556200563 0.00019
NM_000271.5(NPC1):c.1947+7_1947+11dup rs1555634670 0.00019
NM_000271.5(NPC1):c.2257G>A (p.Val753Met) rs146874573 0.00019
NM_000271.5(NPC1):c.3477+19T>C rs375942184 0.00019
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=) rs191776973 0.00019
NM_001083116.3(PRF1):c.563C>T (p.Pro188Leu) rs150156593 0.00019
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588 0.00019
NM_005045.4(RELN):c.10016T>C (p.Met3339Thr) rs150638029 0.00019
NM_005045.4(RELN):c.3663C>T (p.Ser1221=) rs199705497 0.00019
NM_005045.4(RELN):c.3891T>A (p.Pro1297=) rs145600583 0.00019
NM_005045.4(RELN):c.4145+19A>G rs200189547 0.00019
NM_005045.4(RELN):c.4260G>A (p.Gly1420=) rs150518726 0.00019
NM_005045.4(RELN):c.4704G>A (p.Ala1568=) rs780749647 0.00019
NM_005045.4(RELN):c.5893C>A (p.Pro1965Thr) rs370624724 0.00019
NM_005045.4(RELN):c.6302+20C>T rs775229404 0.00019
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile) rs201656873 0.00019
NM_006939.4(SOS2):c.2010A>G (p.Ala670=) rs147081547 0.00019
NM_018344.6(SLC29A3):c.484C>T (p.Arg162Cys) rs148381602 0.00019
NM_018344.6(SLC29A3):c.506T>C (p.Ile169Thr) rs139333654 0.00019
NM_018344.6(SLC29A3):c.640G>A (p.Val214Met) rs200339271 0.00019
NM_199242.3(UNC13D):c.1076G>A (p.Arg359His) rs146611729 0.00019
NM_199242.3(UNC13D):c.114G>A (p.Pro38=) rs755103812 0.00019
NM_199242.3(UNC13D):c.3145C>G (p.Pro1049Ala) rs750743318 0.00019
NM_199242.3(UNC13D):c.887C>T (p.Pro296Leu) rs541737648 0.00019
NM_000081.4(LYST):c.595G>A (p.Asp199Asn) rs552391792 0.00018
NM_000271.5(NPC1):c.1170G>A (p.Leu390=) rs369109734 0.00018
NM_000271.5(NPC1):c.288-18A>G rs772844838 0.00018
NM_003664.5(AP3B1):c.402C>T (p.Ser134=) rs144761256 0.00018
NM_003764.4(STX11):c.699G>C (p.Val233=) rs140973625 0.00018
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_005045.4(RELN):c.2125A>G (p.Met709Val) rs114577182 0.00018
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) rs114501042 0.00018
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser) rs142863840 0.00018
NM_006939.4(SOS2):c.3076-17A>T rs200184350 0.00018
NM_018344.6(SLC29A3):c.991G>A (p.Glu331Lys) rs200004327 0.00018
NM_199242.3(UNC13D):c.1131C>G (p.Ser377Arg) rs142335129 0.00018
NM_199242.3(UNC13D):c.3269C>T (p.Pro1090Leu) rs751649441 0.00018
NM_000081.4(LYST):c.2700A>G (p.Leu900=) rs111463684 0.00017
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000543.5(SMPD1):c.657G>A (p.Thr219=) rs202032347 0.00017
NM_001083116.3(PRF1):c.79G>A (p.Ala27Thr) rs147051158 0.00017
NM_003664.5(AP3B1):c.1995A>G (p.Lys665=) rs201097736 0.00017
NM_005045.4(RELN):c.10276G>A (p.Val3426Ile) rs188371196 0.00017
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849 0.00017
NM_005045.4(RELN):c.7107C>T (p.Asp2369=) rs114339919 0.00017
NM_006949.4(STXBP2):c.1246+8G>A rs371596126 0.00017
NM_012388.4(BLOC1S6):c.51C>G (p.Pro17=) rs150470765 0.00017
NM_199242.3(UNC13D):c.1212C>G (p.Thr404=) rs201727463 0.00017
NM_199242.3(UNC13D):c.262-7C>T rs368236546 0.00017
NM_000081.4(LYST):c.588T>C (p.Pro196=) rs147724454 0.00016
NM_000081.4(LYST):c.603C>T (p.Pro201=) rs146354628 0.00016
NM_000081.4(LYST):c.6291C>T (p.Ala2097=) rs199857997 0.00016
NM_000271.5(NPC1):c.2100C>T (p.Asp700=) rs372517881 0.00016
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) rs373274825 0.00016
NM_000271.5(NPC1):c.3591+11T>C rs545647631 0.00016
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=) rs1621962 0.00016
NM_001083116.3(PRF1):c.1202C>T (p.Ala401Val) rs144242324 0.00016
NM_001083116.3(PRF1):c.1357G>A (p.Val453Met) rs141864315 0.00016
NM_001083116.3(PRF1):c.704C>T (p.Ala235Val) rs142403457 0.00016
NM_002435.3(MPI):c.1125G>A (p.Gly375=) rs552854858 0.00016
NM_003764.4(STX11):c.659G>T (p.Arg220Leu) rs140982644 0.00016
NM_003764.4(STX11):c.745G>A (p.Val249Ile) rs555738896 0.00016
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_005045.4(RELN):c.2376T>C (p.Gly792=) rs398124191 0.00016
NM_005045.4(RELN):c.2532G>A (p.Pro844=) rs113842330 0.00016
NM_005045.4(RELN):c.4354G>A (p.Asp1452Asn) rs114446781 0.00016
NM_005045.4(RELN):c.5088T>C (p.Leu1696=) rs114551393 0.00016
NM_005045.4(RELN):c.5589G>T (p.Gln1863His) rs774354428 0.00016
NM_005045.4(RELN):c.7693G>A (p.Val2565Met) rs184128506 0.00016
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp) rs202166176 0.00016
NM_005045.4(RELN):c.8844-20T>C rs142002220 0.00016
NM_006270.5(RRAS):c.516G>C (p.Ser172=) rs199924228 0.00016
NM_006939.4(SOS2):c.2385-3T>C rs374402293 0.00016
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463 0.00016
NM_006949.4(STXBP2):c.1027-10C>T rs201961771 0.00016
NM_006949.4(STXBP2):c.1403C>T (p.Pro468Leu) rs572516987 0.00016
NM_006949.4(STXBP2):c.1530C>T (p.Ala510=) rs755717157 0.00016
NM_006949.4(STXBP2):c.1759C>G (p.Leu587Val) rs756684008 0.00016
NM_006949.4(STXBP2):c.953C>T (p.Thr318Met) rs201293382 0.00016
NM_012388.4(BLOC1S6):c.125T>C (p.Leu42Ser) rs201461886 0.00016
NM_018344.6(SLC29A3):c.117G>A (p.Pro39=) rs369344337 0.00016
NM_018344.6(SLC29A3):c.972C>T (p.Pro324=) rs149876239 0.00016
NM_018344.6(SLC29A3):c.987C>T (p.Asn329=) rs147814367 0.00016
NM_032638.5(GATA2):c.729C>T (p.His243=) rs369673069 0.00016
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp) rs144946000 0.00016
NM_199242.3(UNC13D):c.481G>A (p.Val161Met) rs148148746 0.00016
NM_000271.5(NPC1):c.1153A>G (p.Ser385Gly) rs1373857908 0.00015
NM_000271.5(NPC1):c.1948-11G>A rs371122321 0.00015
NM_000271.5(NPC1):c.2088T>C (p.Ala696=) rs377179697 0.00015
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 0.00015
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855 0.00015
NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln) rs140281371 0.00015
NM_001083116.3(PRF1):c.866C>T (p.Thr289Met) rs150628656 0.00015
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu) rs201886263 0.00015
NM_006270.5(RRAS):c.255G>A (p.Ala85=) rs142801791 0.00015
NM_006270.5(RRAS):c.600G>A (p.Pro200=) rs183538580 0.00015
NM_006912.6(RIT1):c.237+10C>A rs367785615 0.00015
NM_006939.4(SOS2):c.2057+19T>A rs544924513 0.00015
NM_006949.4(STXBP2):c.1431G>A (p.Pro477=) rs137978942 0.00015
NM_006949.4(STXBP2):c.561G>A (p.Pro187=) rs535372251 0.00015
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly) rs370890802 0.00015
NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn) rs148371004 0.00014
NM_000081.4(LYST):c.7806A>G (p.Gln2602=) rs372754364 0.00014
NM_000081.4(LYST):c.9473A>G (p.Asn3158Ser) rs143618409 0.00014
NM_000271.5(NPC1):c.1274C>T (p.Ser425Leu) rs140149624 0.00014
NM_000271.5(NPC1):c.1947+7_1947+9dup rs1555634685 0.00014
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 0.00014
NM_000271.5(NPC1):c.3477+14C>T rs56043719 0.00014
NM_000271.5(NPC1):c.544G>A (p.Asp182Asn) rs201021988 0.00014
NM_000271.5(NPC1):c.786C>T (p.Ile262=) rs138856517 0.00014
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg) rs144465428 0.00014
NM_000543.5(SMPD1):c.708G>A (p.Pro236=) rs374604948 0.00014
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser) rs202244080 0.00014
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_001083116.3(PRF1):c.356G>A (p.Arg119Gln) rs777662073 0.00014
NM_001083116.3(PRF1):c.630C>T (p.Pro210=) rs144004164 0.00014
NM_001083116.3(PRF1):c.999C>T (p.Pro333=) rs140260618 0.00014
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037 0.00014
NM_005045.4(RELN):c.1013T>G (p.Val338Gly) rs200513558 0.00014
NM_005045.4(RELN):c.227-6T>C rs769480867 0.00014
NM_005045.4(RELN):c.3009-10G>A rs140358876 0.00014
NM_005045.4(RELN):c.3411C>T (p.Gly1137=) rs137974322 0.00014
NM_005045.4(RELN):c.4893C>G (p.Asp1631Glu) rs201296719 0.00014
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494 0.00014
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr) rs139225791 0.00014
NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln) rs368572382 0.00014
NM_006270.5(RRAS):c.344+6_344+7del rs755223611 0.00014
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242 0.00014
NM_006939.4(SOS2):c.2385-12T>C rs372154027 0.00014
NM_006939.4(SOS2):c.2668-13T>C rs368749459 0.00014
NM_006939.4(SOS2):c.2786-6T>A rs552609367 0.00014
NM_006949.4(STXBP2):c.1204G>A (p.Asp402Asn) rs114628602 0.00014
NM_006949.4(STXBP2):c.38-17C>T rs201996502 0.00014
NM_006949.4(STXBP2):c.717C>T (p.Pro239=) rs367755105 0.00014
NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=) rs373404056 0.00014
NM_018344.6(SLC29A3):c.637G>A (p.Ala213Thr) rs142645681 0.00014
NM_018344.6(SLC29A3):c.895C>T (p.Arg299Cys) rs190003480 0.00014
NM_032638.5(GATA2):c.639C>T (p.Tyr213=) rs372455331 0.00014
NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys) rs145253993 0.00014
NM_199242.3(UNC13D):c.261+8C>T rs573508258 0.00014
NM_199242.3(UNC13D):c.2709+6G>T rs199529082 0.00014
NM_199242.3(UNC13D):c.670C>T (p.His224Tyr) rs145607492 0.00014
NM_000081.4(LYST):c.1494A>G (p.Arg498=) rs201412615 0.00013
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser) rs201255245 0.00013
NM_000081.4(LYST):c.2438G>A (p.Arg813Gln) rs558162561 0.00013
NM_000081.4(LYST):c.4065A>G (p.Ser1355=) rs371738691 0.00013
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=) rs141659629 0.00013
NM_000543.5(SMPD1):c.103C>G (p.Leu35Val) rs201367689 0.00013
NM_001083116.3(PRF1):c.1112G>A (p.Arg371Lys) rs199522390 0.00013
NM_001083116.3(PRF1):c.695G>A (p.Arg232His) rs747380397 0.00013
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572 0.00013
NM_003664.5(AP3B1):c.1741A>G (p.Ile581Val) rs751683762 0.00013
NM_005045.4(RELN):c.1708C>G (p.His570Asp) rs374546580 0.00013
NM_005045.4(RELN):c.5398C>G (p.Leu1800Val) rs150148125 0.00013
NM_005045.4(RELN):c.5969C>T (p.Pro1990Leu) rs149473868 0.00013
NM_005045.4(RELN):c.6854G>T (p.Arg2285Leu) rs116394157 0.00013
NM_005045.4(RELN):c.7860C>T (p.Pro2620=) rs116838125 0.00013
NM_005045.4(RELN):c.8634A>G (p.Ser2878=) rs377429197 0.00013
NM_005045.4(RELN):c.9172T>C (p.Leu3058=) rs2286261 0.00013
NM_006939.4(SOS2):c.195G>A (p.Arg65=) rs1803661 0.00013
NM_006939.4(SOS2):c.2328A>G (p.Thr776=) rs116162949 0.00013
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415 0.00013
NM_006949.4(STXBP2):c.1458C>T (p.Ala486=) rs140877133 0.00013
NM_018344.6(SLC29A3):c.269C>T (p.Thr90Ile) rs138389471 0.00013
NM_018344.6(SLC29A3):c.973G>A (p.Ala325Thr) rs144183340 0.00013
NM_032638.5(GATA2):c.1143+11C>T rs367569053 0.00013
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp) rs144492641 0.00013
NM_199242.3(UNC13D):c.1520G>A (p.Arg507His) rs866295247 0.00013
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln) rs747390615 0.00013
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp) rs140184929 0.00013
NM_000081.4(LYST):c.2517T>C (p.Ile839=) rs78172154 0.00012
NM_000081.4(LYST):c.716G>A (p.Ser239Asn) rs534142793 0.00012
NM_000081.4(LYST):c.8151T>C (p.Ile2717=) rs201045270 0.00012
NM_000271.5(NPC1):c.1695C>T (p.Phe565=) rs373094778 0.00012
NM_000271.5(NPC1):c.466A>G (p.Met156Val) rs149074243 0.00012
NM_000271.5(NPC1):c.467T>C (p.Met156Thr) rs147615070 0.00012
NM_005045.4(RELN):c.113T>A (p.Phe38Tyr) rs149715692 0.00012
NM_005045.4(RELN):c.5019C>A (p.Ser1673Arg) rs370258062 0.00012
NM_005045.4(RELN):c.5211-7T>C rs760447914 0.00012
NM_005045.4(RELN):c.6200C>T (p.Ser2067Phe) rs368566543 0.00012
NM_005045.4(RELN):c.7268G>A (p.Arg2423His) rs140660860 0.00012
NM_006912.6(RIT1):c.38G>A (p.Ser13Asn) rs145034964 0.00012
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_006949.4(STXBP2):c.1393C>T (p.Arg465Cys) rs542557411 0.00012
NM_006949.4(STXBP2):c.960+11del rs777484527 0.00012
NM_018344.6(SLC29A3):c.1011G>A (p.Ser337=) rs151273259 0.00012
NM_018344.6(SLC29A3):c.914C>T (p.Thr305Met) rs201088617 0.00012
NM_199242.3(UNC13D):c.2191G>A (p.Val731Met) rs377549461 0.00012
NM_199242.3(UNC13D):c.2510G>A (p.Arg837His) rs780296355 0.00012
NM_199242.3(UNC13D):c.3037G>A (p.Asp1013Asn) rs140837214 0.00012
NM_199242.3(UNC13D):c.3182G>A (p.Arg1061Gln) rs79891552 0.00012
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln) rs148299757 0.00011
NM_000081.4(LYST):c.4513A>G (p.Ile1505Val) rs756527927 0.00011
NM_000081.4(LYST):c.6432A>G (p.Ser2144=) rs145080654 0.00011
NM_000081.4(LYST):c.9628-15C>T rs751859873 0.00011
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000271.5(NPC1):c.2514+11dup rs773276283 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000271.5(NPC1):c.3159C>T (p.Asp1053=) rs201460899 0.00011
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=) rs777356809 0.00011
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met) rs767795351 0.00011
NM_000271.5(NPC1):c.398T>G (p.Val133Gly) rs375039992 0.00011
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667 0.00011
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr) rs199963560 0.00011
NM_000543.5(SMPD1):c.336T>C (p.Ala112=) rs543145636 0.00011
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564 0.00011
NM_000543.5(SMPD1):c.534C>T (p.Ile178=) rs142147633 0.00011
NM_000543.5(SMPD1):c.729C>T (p.Ala243=) rs149476159 0.00011
NM_000543.5(SMPD1):c.897C>T (p.Thr299=) rs536760557 0.00011
NM_000543.5(SMPD1):c.909A>G (p.Ala303=) rs201134693 0.00011
NM_001083116.3(PRF1):c.1144C>T (p.Pro382Ser) rs377367451 0.00011
NM_001083116.3(PRF1):c.376C>T (p.Arg126Cys) rs34279237 0.00011
NM_002435.3(MPI):c.378G>A (p.Pro126=) rs752948071 0.00011
NM_003664.5(AP3B1):c.1650+18dup rs766343354 0.00011
NM_003664.5(AP3B1):c.1650+20C>G rs374194943 0.00011
NM_003664.5(AP3B1):c.2762A>G (p.Glu921Gly) rs753810749 0.00011
NM_003764.4(STX11):c.632A>C (p.His211Pro) rs540065111 0.00011
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039 0.00011
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln) rs56146903 0.00011
NM_005045.4(RELN):c.3667A>G (p.Lys1223Glu) rs200269227 0.00011
NM_005045.4(RELN):c.3913-10C>T rs759409873 0.00011
NM_005045.4(RELN):c.4848G>T (p.Leu1616Phe) rs200733882 0.00011
NM_005045.4(RELN):c.6193G>A (p.Val2065Ile) rs201627577 0.00011
NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn) rs138978280 0.00011
NM_005045.4(RELN):c.807G>T (p.Gly269=) rs374420536 0.00011
NM_005045.4(RELN):c.9414C>T (p.Ser3138=) rs375427974 0.00011
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg) rs369588682 0.00011
NM_006270.5(RRAS):c.81C>T (p.Ser27=) rs375821724 0.00011
NM_006949.4(STXBP2):c.1268C>A (p.Ala423Asp) rs150072458 0.00011
NM_006949.4(STXBP2):c.1356+13C>T rs544312114 0.00011
NM_006949.4(STXBP2):c.312C>T (p.Ile104=) rs149590619 0.00011
NM_006949.4(STXBP2):c.661G>A (p.Glu221Lys) rs201649843 0.00011
NM_006949.4(STXBP2):c.902+20G>A rs779607080 0.00011
NM_018344.6(SLC29A3):c.68G>A (p.Ser23Asn) rs146423891 0.00011
NM_018344.6(SLC29A3):c.774-6C>T rs185479915 0.00011
NM_018344.6(SLC29A3):c.862T>A (p.Ser288Thr) rs368747183 0.00011
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys) rs367785289 0.00011
NM_032638.5(GATA2):c.42G>T (p.Pro14=) rs372722885 0.00011
NM_183235.3(RAB27A):c.518C>G (p.Ala173Gly) rs142217102 0.00011
NM_199242.3(UNC13D):c.1038C>T (p.Asp346=) rs143231110 0.00011
NM_199242.3(UNC13D):c.2242G>A (p.Ala748Thr) rs200980507 0.00011
NM_199242.3(UNC13D):c.2973G>A (p.Pro991=) rs564875531 0.00011
NM_199242.3(UNC13D):c.453C>T (p.Pro151=) rs138997390 0.00011
NM_199242.3(UNC13D):c.467G>A (p.Arg156Gln) rs370610759 0.00011
NM_000081.4(LYST):c.10221C>T (p.Tyr3407=) rs146457386 0.00010
NM_000081.4(LYST):c.196T>C (p.Leu66=) rs138393416 0.00010
NM_000081.4(LYST):c.2826A>G (p.Pro942=) rs149558986 0.00010
NM_000081.4(LYST):c.4336C>T (p.Arg1446Trp) rs200276917 0.00010
NM_000081.4(LYST):c.7797C>A (p.Pro2599=) rs141827492 0.00010
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe) rs554841002 0.00010
NM_000271.5(NPC1):c.180+8C>T rs778096289 0.00010
NM_000271.5(NPC1):c.1947+6C>G rs745432812 0.00010
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly) rs759292620 0.00010
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe) rs759628748 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000271.5(NPC1):c.962C>T (p.Ala321Val) rs138079168 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_001083116.3(PRF1):c.310C>T (p.Arg104Cys) rs547723649 0.00010
NM_001083116.3(PRF1):c.363G>A (p.Ala121=) rs146358730 0.00010
NM_002435.3(MPI):c.662C>G (p.Ser221Cys) rs760911969 0.00010
NM_003664.5(AP3B1):c.1748C>T (p.Pro583Leu) rs148023800 0.00010
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00010
NM_003764.4(STX11):c.729C>T (p.Asn243=) rs534184432 0.00010
NM_005045.4(RELN):c.1344C>G (p.Gly448=) rs144150588 0.00010
NM_005045.4(RELN):c.1655T>C (p.Val552Ala) rs144116037 0.00010
NM_005045.4(RELN):c.5274G>T (p.Ala1758=) rs139102992 0.00010
NM_005045.4(RELN):c.5351+16T>C rs375210307 0.00010
NM_005045.4(RELN):c.6384C>T (p.Ile2128=) rs762802659 0.00010
NM_005045.4(RELN):c.6553A>T (p.Met2185Leu) rs114686696 0.00010
NM_005045.4(RELN):c.6853C>T (p.Arg2285Cys) rs144565023 0.00010
NM_005045.4(RELN):c.7350-15T>C rs532399420 0.00010
NM_005045.4(RELN):c.9984-9G>A rs758320422 0.00010
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515 0.00010
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554 0.00010
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro) rs141214900 0.00010
NM_006949.4(STXBP2):c.903-18G>A rs202217724 0.00010
NM_018344.6(SLC29A3):c.248G>A (p.Arg83His) rs370566644 0.00010
NM_018344.6(SLC29A3):c.855G>A (p.Ser285=) rs566110994 0.00010
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val) rs137960099 0.00010
NM_199242.3(UNC13D):c.1626G>A (p.Thr542=) rs371924071 0.00010
NM_199242.3(UNC13D):c.2083G>A (p.Ala695Thr) rs145589230 0.00010
NM_199242.3(UNC13D):c.3259C>T (p.Arg1087Trp) rs533281672 0.00010
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_000081.4(LYST):c.6332C>A (p.Thr2111Asn) rs138179493 0.00009
NM_000081.4(LYST):c.9327T>A (p.Asp3109Glu) rs1413246726 0.00009
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225 0.00009
NM_000271.5(NPC1):c.3477+15A>G rs369049242 0.00009
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_000271.5(NPC1):c.3815G>A (p.Arg1272His) rs563385810 0.00009
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln) rs151305963 0.00009
NM_000271.5(NPC1):c.553A>G (p.Asn185Asp) rs139485263 0.00009
NM_000271.5(NPC1):c.57+17C>T rs1186978498 0.00009
NM_000271.5(NPC1):c.985G>A (p.Ala329Thr) rs572337787 0.00009
NM_000543.5(SMPD1):c.1383T>C (p.His461=) rs570284983 0.00009
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp) rs551046401 0.00009
NM_001083116.3(PRF1):c.1350G>A (p.Thr450=) rs200312496 0.00009
NM_001083116.3(PRF1):c.529C>T (p.Arg177Cys) rs201468340 0.00009
NM_001083116.3(PRF1):c.969G>A (p.Glu323=) rs774426204 0.00009
NM_002435.3(MPI):c.167G>A (p.Arg56Gln) rs200452019 0.00009
NM_003664.5(AP3B1):c.2900A>G (p.Lys967Arg) rs766616397 0.00009
NM_003664.5(AP3B1):c.537-9A>G rs372285421 0.00009
NM_003664.5(AP3B1):c.604-3T>C rs754016521 0.00009
NM_003664.5(AP3B1):c.942+17A>G rs377061172 0.00009
NM_003764.4(STX11):c.432C>G (p.His144Gln) rs149492643 0.00009
NM_003764.4(STX11):c.746T>A (p.Val249Glu) rs764649306 0.00009
NM_003764.4(STX11):c.9C>A (p.Asp3Glu) rs754278775 0.00009
NM_005045.4(RELN):c.10108A>G (p.Thr3370Ala) rs570807790 0.00009
NM_005045.4(RELN):c.10280+11A>G rs200062707 0.00009
NM_005045.4(RELN):c.3146+16A>G rs749284590 0.00009
NM_005045.4(RELN):c.3607G>A (p.Val1203Met) rs140868852 0.00009
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576 0.00009
NM_005045.4(RELN):c.4689C>T (p.Asp1563=) rs138694965 0.00009
NM_005045.4(RELN):c.4720G>A (p.Ala1574Thr) rs78480723 0.00009
NM_005045.4(RELN):c.4843G>C (p.Asp1615His) rs375040526 0.00009
NM_005045.4(RELN):c.576A>G (p.Leu192=) rs142874980 0.00009
NM_005045.4(RELN):c.6072+7G>T rs777197865 0.00009
NM_005045.4(RELN):c.6189C>T (p.Ser2063=) rs529198383 0.00009
NM_005045.4(RELN):c.7197C>T (p.Tyr2399=) rs368769147 0.00009
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673 0.00009
NM_006270.5(RRAS):c.540C>T (p.Asp180=) rs781054110 0.00009
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) rs563231684 0.00009
NM_006939.4(SOS2):c.1934+11T>C rs375487320 0.00009
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587 0.00009
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878 0.00009
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354 0.00009
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576 0.00009
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022 0.00009
NM_006939.4(SOS2):c.88-10T>C rs777771034 0.00009
NM_006949.4(STXBP2):c.1682G>C (p.Trp561Ser) rs537825002 0.00009
NM_006949.4(STXBP2):c.1723C>T (p.Arg575Cys) rs201481880 0.00009
NM_006949.4(STXBP2):c.36A>G (p.Glu12=) rs765466426 0.00009
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_006949.4(STXBP2):c.663+11G>A rs199892437 0.00009
NM_006949.4(STXBP2):c.820G>T (p.Ala274Ser) rs199971069 0.00009
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116 0.00009
NM_012388.4(BLOC1S6):c.318T>C (p.Ala106=) rs752899247 0.00009
NM_018344.6(SLC29A3):c.199C>T (p.Pro67Ser) rs142216905 0.00009
NM_018344.6(SLC29A3):c.22G>A (p.Asp8Asn) rs558547846 0.00009
NM_032638.5(GATA2):c.230-17T>C rs570049792 0.00009
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg) rs753645971 0.00009
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly) rs141800945 0.00009
NM_183235.3(RAB27A):c.172C>T (p.Pro58Ser) rs201284258 0.00009
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met) rs139025012 0.00009
NM_199242.3(UNC13D):c.1389+13C>T rs371416823 0.00009
NM_199242.3(UNC13D):c.154-8T>A rs369433391 0.00009
NM_199242.3(UNC13D):c.1760G>A (p.Arg587His) rs201600711 0.00009
NM_199242.3(UNC13D):c.1934G>A (p.Arg645Gln) rs371162326 0.00009
NM_199242.3(UNC13D):c.2553+12G>A rs560520169 0.00009
NM_199242.3(UNC13D):c.2764G>A (p.Ala922Thr) rs763375427 0.00009
NM_199242.3(UNC13D):c.999C>T (p.Thr333=) rs138268544 0.00009
NM_000081.4(LYST):c.6881+8T>C rs372075872 0.00008
NM_000081.4(LYST):c.7627+6A>T rs749282192 0.00008
NM_000081.4(LYST):c.949G>A (p.Glu317Lys) rs201337542 0.00008
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile) rs199672291 0.00008
NM_000271.5(NPC1):c.2493G>A (p.Lys831=) rs150000422 0.00008
NM_000271.5(NPC1):c.273A>G (p.Leu91=) rs370718676 0.00008
NM_000271.5(NPC1):c.2911+10C>T rs370382673 0.00008
NM_000271.5(NPC1):c.3492C>T (p.Ser1164=) rs371160947 0.00008
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=) rs150602021 0.00008
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr) rs752896980 0.00008
NM_000543.5(SMPD1):c.1253G>A (p.Arg418Gln) rs767722360 0.00008
NM_000543.5(SMPD1):c.1839G>A (p.Met613Ile) rs370828368 0.00008
NM_000543.5(SMPD1):c.900C>T (p.Thr300=) rs368353322 0.00008
NM_001083116.3(PRF1):c.867G>A (p.Thr289=) rs745670464 0.00008
NM_003664.5(AP3B1):c.1031G>A (p.Arg344His) rs765852823 0.00008
NM_003664.5(AP3B1):c.2424T>C (p.Asp808=) rs144240072 0.00008
NM_003664.5(AP3B1):c.2993-15C>A rs202232687 0.00008
NM_005045.4(RELN):c.2637C>T (p.Val879=) rs544717229 0.00008
NM_005045.4(RELN):c.5935G>A (p.Gly1979Ser) rs139892362 0.00008
NM_005045.4(RELN):c.697G>A (p.Ala233Thr) rs181961566 0.00008
NM_005045.4(RELN):c.8667+9_8667+13del rs755797350 0.00008
NM_005045.4(RELN):c.9708C>T (p.Ser3236=) rs200370282 0.00008
NM_006270.5(RRAS):c.344+17G>A rs761080520 0.00008
NM_006432.5(NPC2):c.38T>C (p.Leu13Pro) rs147602717 0.00008
NM_006939.4(SOS2):c.1935-13C>G rs764835554 0.00008
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly) rs369462490 0.00008
NM_006939.4(SOS2):c.2154T>C (p.Ser718=) rs568511771 0.00008
NM_006939.4(SOS2):c.3729C>T (p.His1243=) rs761917783 0.00008
NM_006939.4(SOS2):c.510+14G>T rs897218126 0.00008
NM_006949.4(STXBP2):c.1136G>A (p.Gly379Glu) rs778792433 0.00008
NM_006949.4(STXBP2):c.1354G>A (p.Gly452Arg) rs148777693 0.00008
NM_006949.4(STXBP2):c.1761G>A (p.Leu587=) rs532356732 0.00008
NM_006949.4(STXBP2):c.333C>T (p.Pro111=) rs144233139 0.00008
NM_006949.4(STXBP2):c.672G>A (p.Glu224=) rs371258399 0.00008
NM_006949.4(STXBP2):c.911C>T (p.Thr304Met) rs200135215 0.00008
NM_012388.4(BLOC1S6):c.82+6del rs779246428 0.00008
NM_018344.6(SLC29A3):c.120C>T (p.Pro40=) rs752818853 0.00008
NM_018344.6(SLC29A3):c.347T>G (p.Met116Arg) rs267607057 0.00008
NM_018344.6(SLC29A3):c.365A>G (p.Asn122Ser) rs772599816 0.00008
NM_018344.6(SLC29A3):c.674A>G (p.Asp225Gly) rs140852642 0.00008
NM_032638.5(GATA2):c.114G>A (p.Gln38=) rs775573177 0.00008
NM_032638.5(GATA2):c.229+15C>G rs767013148 0.00008
NM_032638.5(GATA2):c.375A>C (p.Pro125=) rs763281230 0.00008
NM_032638.5(GATA2):c.978T>C (p.Asn326=) rs769794900 0.00008
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu) rs757760608 0.00008
NM_199242.3(UNC13D):c.1152G>C (p.Gln384His) rs570422323 0.00008
NM_199242.3(UNC13D):c.2243C>T (p.Ala748Val) rs375724532 0.00008
NM_000081.4(LYST):c.3931A>G (p.Met1311Val) rs376718077 0.00007
NM_000081.4(LYST):c.476G>A (p.Arg159Lys) rs111806240 0.00007
NM_000271.5(NPC1):c.1506C>G (p.Asp502Glu) rs191537721 0.00007
NM_000271.5(NPC1):c.1655-11T>C rs574021301 0.00007
NM_000271.5(NPC1):c.1947+11G>T rs747957171 0.00007
NM_000271.5(NPC1):c.1947+13_1947+14insT rs1555634643 0.00007
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val) rs368658600 0.00007
NM_000271.5(NPC1):c.912C>T (p.Pro304=) rs140894981 0.00007
NM_000543.5(SMPD1):c.174G>A (p.Pro58=) rs368143181 0.00007
NM_000543.5(SMPD1):c.448C>T (p.Arg150Cys) rs143719170 0.00007
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_001083116.3(PRF1):c.540-13T>C rs1025361023 0.00007
NM_001083116.3(PRF1):c.545A>G (p.His182Arg) rs200383720 0.00007
NM_001083116.3(PRF1):c.557C>T (p.Thr186Ile) rs751796432 0.00007
NM_001083116.3(PRF1):c.808G>A (p.Gly270Ser) rs143043887 0.00007
NM_002435.3(MPI):c.849C>T (p.Cys283=) rs377419930 0.00007
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu) rs138751237 0.00007
NM_003664.5(AP3B1):c.2709A>G (p.Gln903=) rs774631707 0.00007
NM_003664.5(AP3B1):c.2779G>A (p.Gly927Ser) rs746205404 0.00007
NM_003764.4(STX11):c.157G>A (p.Asp53Asn) rs749246568 0.00007
NM_005045.4(RELN):c.10310T>C (p.Met3437Thr) rs377638585 0.00007
NM_005045.4(RELN):c.1143+13T>C rs200774629 0.00007
NM_005045.4(RELN):c.338-18C>T rs769855701 0.00007
NM_005045.4(RELN):c.6915C>T (p.Pro2305=) rs552247909 0.00007
NM_005045.4(RELN):c.7861G>A (p.Gly2621Arg) rs144453936 0.00007
NM_005045.4(RELN):c.8625G>A (p.Pro2875=) rs190273964 0.00007
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp) rs369392502 0.00007
NM_006939.4(SOS2):c.2707G>A (p.Val903Met) rs745788940 0.00007
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) rs755783805 0.00007
NM_006939.4(SOS2):c.3337+20C>T rs759267073 0.00007
NM_006939.4(SOS2):c.627A>G (p.Glu209=) rs771839900 0.00007
NM_006949.4(STXBP2):c.1681T>C (p.Trp561Arg) rs202167383 0.00007
NM_006949.4(STXBP2):c.170-12T>C rs764720379 0.00007
NM_018344.6(SLC29A3):c.385G>A (p.Val129Ile) rs768974539 0.00007
NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu) rs372912472 0.00007
NM_032638.5(GATA2):c.189C>T (p.Pro63=) rs763735447 0.00007
NM_032638.5(GATA2):c.888C>T (p.Val296=) rs574218913 0.00007
NM_199242.3(UNC13D):c.1216G>A (p.Gly406Ser) rs149099554 0.00007
NM_199242.3(UNC13D):c.1928C>T (p.Thr643Ile) rs184046644 0.00007
NM_199242.3(UNC13D):c.2241C>T (p.Ser747=) rs372453702 0.00007
NM_199242.3(UNC13D):c.273G>A (p.Val91=) rs149494974 0.00007
NM_199242.3(UNC13D):c.3152-4G>A rs367571835 0.00007
NM_199242.3(UNC13D):c.794C>G (p.Pro265Arg) rs200265541 0.00007
NM_000081.4(LYST):c.3030A>G (p.Gly1010=) rs751511204 0.00006
NM_000081.4(LYST):c.3834G>A (p.Leu1278=) rs148542548 0.00006
NM_000081.4(LYST):c.4983G>A (p.Leu1661=) rs1482156206 0.00006
NM_000081.4(LYST):c.5418C>T (p.His1806=) rs146990900 0.00006
NM_000081.4(LYST):c.5612T>C (p.Ile1871Thr) rs559869925 0.00006
NM_000081.4(LYST):c.5635-4A>G rs754201076 0.00006
NM_000081.4(LYST):c.5919G>A (p.Leu1973=) rs748908539 0.00006
NM_000081.4(LYST):c.6078C>T (p.Tyr2026=) rs80338660 0.00006
NM_000081.4(LYST):c.6149G>A (p.Arg2050Gln) rs376311093 0.00006
NM_000081.4(LYST):c.6258G>A (p.Glu2086=) rs771882274 0.00006
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr) rs368500877 0.00006
NM_000081.4(LYST):c.7911G>A (p.Thr2637=) rs140229368 0.00006
NM_000081.4(LYST):c.8205T>G (p.Ser2735=) rs147539199 0.00006
NM_000271.5(NPC1):c.1479C>T (p.Ser493=) rs148078801 0.00006
NM_000271.5(NPC1):c.1542G>A (p.Leu514=) rs371076898 0.00006
NM_000271.5(NPC1):c.181-3A>G rs371126954 0.00006
NM_000271.5(NPC1):c.1837C>T (p.Leu613=) rs147281003 0.00006
NM_000271.5(NPC1):c.2246-6C>T rs757950161 0.00006
NM_000271.5(NPC1):c.2359A>G (p.Ile787Val) rs202046984 0.00006
NM_000271.5(NPC1):c.2551G>A (p.Ala851Thr) rs139297968 0.00006
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669 0.00006
NM_000271.5(NPC1):c.2862G>A (p.Ser954=) rs373517774 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=) rs182413311 0.00006
NM_000271.5(NPC1):c.3811G>C (p.Glu1271Gln) rs140527006 0.00006
NM_000271.5(NPC1):c.481C>T (p.Arg161Trp) rs141243713 0.00006
NM_000271.5(NPC1):c.563A>G (p.Asn188Ser) rs549048534 0.00006
NM_000271.5(NPC1):c.631+19A>G rs371704068 0.00006
NM_000543.5(SMPD1):c.1125C>T (p.Pro375=) rs376871416 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000543.5(SMPD1):c.1335A>G (p.Val445=) rs769400504 0.00006
NM_000543.5(SMPD1):c.1497G>A (p.Val499=) rs749498245 0.00006
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=) rs201659696 0.00006
NM_000543.5(SMPD1):c.1772G>A (p.Arg591His) rs189116118 0.00006
NM_000543.5(SMPD1):c.253G>A (p.Gly85Arg) rs368200803 0.00006
NM_000543.5(SMPD1):c.373C>T (p.Leu125=) rs370048730 0.00006
NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu) rs760203204 0.00006
NM_001083116.3(PRF1):c.1036C>T (p.Leu346=) rs374261838 0.00006
NM_001083116.3(PRF1):c.1117C>T (p.Arg373Cys) rs374588624 0.00006
NM_001083116.3(PRF1):c.1207A>G (p.Thr403Ala) rs371232368 0.00006
NM_001083116.3(PRF1):c.15G>A (p.Leu5=) rs752644970 0.00006
NM_001083116.3(PRF1):c.1636C>G (p.Pro546Ala) rs550799905 0.00006
NM_001083116.3(PRF1):c.189A>C (p.Thr63=) rs759983785 0.00006
NM_001083116.3(PRF1):c.211G>A (p.Gly71Ser) rs142059134 0.00006
NM_001083116.3(PRF1):c.540-4G>A rs778340926 0.00006
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001083116.3(PRF1):c.961G>A (p.Gly321Arg) rs145234214 0.00006
NM_001083116.3(PRF1):c.990C>T (p.Asn330=) rs368769599 0.00006
NM_002435.3(MPI):c.1269G>A (p.Leu423=) rs371664469 0.00006
NM_002435.3(MPI):c.390C>T (p.Pro130=) rs140961968 0.00006
NM_002435.3(MPI):c.61A>G (p.Met21Val) rs376746368 0.00006
NM_002435.3(MPI):c.708G>A (p.Glu236=) rs530537706 0.00006
NM_003664.5(AP3B1):c.131A>G (p.Asn44Ser) rs774098325 0.00006
NM_003664.5(AP3B1):c.1462G>A (p.Asp488Asn) rs370362655 0.00006
NM_003664.5(AP3B1):c.1651-8T>C rs761881068 0.00006
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) rs201238945 0.00006
NM_003664.5(AP3B1):c.2025T>C (p.Phe675=) rs370684531 0.00006
NM_003664.5(AP3B1):c.2446G>A (p.Val816Ile) rs372847987 0.00006
NM_003664.5(AP3B1):c.2578-12C>T rs532846547 0.00006
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe) rs764100439 0.00006
NM_003664.5(AP3B1):c.823G>A (p.Glu275Lys) rs140209190 0.00006
NM_003664.5(AP3B1):c.835G>T (p.Asp279Tyr) rs751922416 0.00006
NM_003764.4(STX11):c.831C>A (p.Thr277=) rs763282100 0.00006
NM_005045.4(RELN):c.10355G>A (p.Arg3452Lys) rs149434986 0.00006
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter) rs139326865 0.00006
NM_005045.4(RELN):c.1566G>C (p.Leu522Phe) rs200373269 0.00006
NM_005045.4(RELN):c.1669T>G (p.Phe557Val) rs757726526 0.00006
NM_005045.4(RELN):c.1746G>T (p.Thr582=) rs138532222 0.00006
NM_005045.4(RELN):c.1935C>T (p.Thr645=) rs768883584 0.00006
NM_005045.4(RELN):c.2002+10T>C rs367840492 0.00006
NM_005045.4(RELN):c.223C>A (p.His75Asn) rs555377051 0.00006
NM_005045.4(RELN):c.226+17C>T rs766747842 0.00006
NM_005045.4(RELN):c.2352G>A (p.Thr784=) rs148510862 0.00006
NM_005045.4(RELN):c.264G>A (p.Leu88=) rs754207594 0.00006
NM_005045.4(RELN):c.3009-15A>G rs757301431 0.00006
NM_005045.4(RELN):c.3191C>G (p.Ala1064Gly) rs565236668 0.00006
NM_005045.4(RELN):c.3198G>A (p.Pro1066=) rs767180170 0.00006
NM_005045.4(RELN):c.3642C>T (p.Val1214=) rs151252449 0.00006
NM_005045.4(RELN):c.3712-5A>G rs370671369 0.00006
NM_005045.4(RELN):c.4511+12T>G rs758509796 0.00006
NM_005045.4(RELN):c.4701C>T (p.Asp1567=) rs755634872 0.00006
NM_005045.4(RELN):c.4937-18del rs757860282 0.00006
NM_005045.4(RELN):c.5025C>T (p.Pro1675=) rs748927848 0.00006
NM_005045.4(RELN):c.5194C>T (p.Leu1732Phe) rs755485060 0.00006
NM_005045.4(RELN):c.5210+17G>T rs775344975 0.00006
NM_005045.4(RELN):c.5246A>G (p.Asn1749Ser) rs755596079 0.00006
NM_005045.4(RELN):c.5345G>A (p.Arg1782His) rs747527621 0.00006
NM_005045.4(RELN):c.5480A>G (p.Asn1827Ser) rs374941914 0.00006
NM_005045.4(RELN):c.6031C>T (p.Arg2011Cys) rs374628146 0.00006
NM_005045.4(RELN):c.6170T>G (p.Leu2057Arg) rs138909076 0.00006
NM_005045.4(RELN):c.6874C>T (p.Arg2292Cys) rs762032224 0.00006
NM_005045.4(RELN):c.7036G>A (p.Val2346Met) rs201788015 0.00006
NM_005045.4(RELN):c.718G>A (p.Val240Ile) rs375141725 0.00006
NM_005045.4(RELN):c.753+14A>G rs368776001 0.00006
NM_005045.4(RELN):c.8141A>G (p.His2714Arg) rs746594396 0.00006
NM_005045.4(RELN):c.9446C>T (p.Ser3149Leu) rs773908055 0.00006
NM_005045.4(RELN):c.955G>A (p.Ala319Thr) rs752141793 0.00006
NM_005045.4(RELN):c.9747C>T (p.Cys3249=) rs749356183 0.00006
NM_005045.4(RELN):c.975A>G (p.Gln325=) rs147568145 0.00006
NM_006270.5(RRAS):c.163G>A (p.Val55Met) rs368625677 0.00006
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr) rs200611081 0.00006
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959 0.00006
NM_006432.5(NPC2):c.270T>C (p.Pro90=) rs758503440 0.00006
NM_006432.5(NPC2):c.330G>C (p.Leu110=) rs762424530 0.00006
NM_006912.6(RIT1):c.106+15C>T rs755316223 0.00006
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn) rs200368064 0.00006
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile) rs373143128 0.00006
NM_006939.4(SOS2):c.2700C>T (p.Asp900=) rs369410641 0.00006
NM_006939.4(SOS2):c.2959-16A>G rs147830734 0.00006
NM_006939.4(SOS2):c.36C>T (p.Ser12=) rs377290612 0.00006
NM_006939.4(SOS2):c.3868C>G (p.Pro1290Ala) rs761580972 0.00006
NM_006939.4(SOS2):c.504G>A (p.Ala168=) rs199898102 0.00006
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_006949.4(STXBP2):c.1186G>A (p.Ala396Thr) rs768077536 0.00006
NM_006949.4(STXBP2):c.1356+14G>A rs373620307 0.00006
NM_006949.4(STXBP2):c.1453-5G>A rs113332946 0.00006
NM_006949.4(STXBP2):c.1453-8G>A rs1452988617 0.00006
NM_006949.4(STXBP2):c.1531G>A (p.Ala511Thr) rs138581300 0.00006
NM_006949.4(STXBP2):c.1647C>T (p.Ala549=) rs763651051 0.00006
NM_006949.4(STXBP2):c.336G>T (p.Glu112Asp) rs751965889 0.00006
NM_006949.4(STXBP2):c.494G>A (p.Arg165His) rs747969201 0.00006
NM_006949.4(STXBP2):c.499C>T (p.Arg167Trp) rs768296460 0.00006
NM_006949.4(STXBP2):c.503A>G (p.Gln168Arg) rs369683019 0.00006
NM_006949.4(STXBP2):c.514C>G (p.Leu172Val) rs905210837 0.00006
NM_006949.4(STXBP2):c.641C>T (p.Ala214Val) rs746329841 0.00006
NM_006949.4(STXBP2):c.744G>A (p.Thr248=) rs150126189 0.00006
NM_018344.6(SLC29A3):c.1098C>T (p.Thr366=) rs747396162 0.00006
NM_018344.6(SLC29A3):c.1124A>G (p.Asn375Ser) rs150398575 0.00006
NM_018344.6(SLC29A3):c.1133C>T (p.Ala378Val) rs564770014 0.00006
NM_018344.6(SLC29A3):c.113G>A (p.Arg38His) rs201238600 0.00006
NM_018344.6(SLC29A3):c.1180G>A (p.Val394Met) rs770560831 0.00006
NM_018344.6(SLC29A3):c.1204G>A (p.Val402Ile) rs1009541174 0.00006
NM_018344.6(SLC29A3):c.1309G>A (p.Gly437Arg) rs121912584 0.00006
NM_018344.6(SLC29A3):c.1416G>A (p.Val472=) rs572730455 0.00006
NM_018344.6(SLC29A3):c.561C>T (p.Tyr187=) rs773321774 0.00006
NM_018344.6(SLC29A3):c.570C>T (p.Thr190=) rs376124954 0.00006
NM_018344.6(SLC29A3):c.770C>T (p.Ala257Val) rs148164425 0.00006
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu) rs146554939 0.00006
NM_032638.5(GATA2):c.1302T>G (p.Ala434=) rs971128233 0.00006
NM_032638.5(GATA2):c.657G>A (p.Glu219=) rs138688940 0.00006
NM_032638.5(GATA2):c.714C>G (p.Thr238=) rs915312505 0.00006
NM_183235.3(RAB27A):c.213G>T (p.Gln71His) rs776920896 0.00006
NM_183235.3(RAB27A):c.255G>T (p.Thr85=) rs147130708 0.00006
NM_183235.3(RAB27A):c.424G>C (p.Val142Leu) rs538323738 0.00006
NM_183235.3(RAB27A):c.468-4C>T rs371060436 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln) rs141362723 0.00006
NM_183235.3(RAB27A):c.636A>C (p.Glu212Asp) rs1210017547 0.00006
NM_199242.3(UNC13D):c.1014C>T (p.His338=) rs375097777 0.00006
NM_199242.3(UNC13D):c.1189G>A (p.Ala397Thr) rs769602840 0.00006
NM_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NM_199242.3(UNC13D):c.1532A>C (p.Lys511Thr) rs771633331 0.00006
NM_199242.3(UNC13D):c.1596+16G>A rs554753744 0.00006
NM_199242.3(UNC13D):c.1728-10C>A rs753356790 0.00006
NM_199242.3(UNC13D):c.1741G>T (p.Ala581Ser) rs763766894 0.00006
NM_199242.3(UNC13D):c.1773G>T (p.Pro591=) rs367988204 0.00006
NM_199242.3(UNC13D):c.2044C>T (p.Arg682Cys) rs755931780 0.00006
NM_199242.3(UNC13D):c.2219C>T (p.Thr740Met) rs761013333 0.00006
NM_199242.3(UNC13D):c.2358G>A (p.Leu786=) rs532486218 0.00006
NM_199242.3(UNC13D):c.2384T>C (p.Met795Thr) rs372220517 0.00006
NM_199242.3(UNC13D):c.2448-7G>A rs537787945 0.00006
NM_199242.3(UNC13D):c.2499C>T (p.Ala833=) rs200014965 0.00006
NM_199242.3(UNC13D):c.2517A>C (p.Ser839=) rs147532673 0.00006
NM_199242.3(UNC13D):c.2955-8C>T rs765196017 0.00006
NM_199242.3(UNC13D):c.3036C>T (p.Asp1012=) rs201238621 0.00006
NM_199242.3(UNC13D):c.3068G>A (p.Arg1023His) rs751157590 0.00006
NM_199242.3(UNC13D):c.3075G>C (p.Val1025=) rs750974136 0.00006
NM_199242.3(UNC13D):c.3152-17A>G rs756249085 0.00006
NM_199242.3(UNC13D):c.3238C>T (p.Gln1080Ter) rs545293601 0.00006
NM_199242.3(UNC13D):c.32G>C (p.Arg11Pro) rs574927621 0.00006
NM_199242.3(UNC13D):c.460C>T (p.Arg154Trp) rs749259935 0.00006
NM_199242.3(UNC13D):c.684-5C>T rs374984588 0.00006
NM_199242.3(UNC13D):c.71G>A (p.Arg24His) rs777619516 0.00006
NM_199242.3(UNC13D):c.859-4G>A rs373239557 0.00006
NM_199242.3(UNC13D):c.881C>T (p.Ser294Leu) rs370741117 0.00006
NM_000081.4(LYST):c.1089T>C (p.Ile363=) rs761334667 0.00005
NM_000271.5(NPC1):c.1123A>G (p.Thr375Ala) rs746372120 0.00005
NM_000271.5(NPC1):c.1348A>G (p.Ile450Val) rs141892620 0.00005
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met) rs761459069 0.00005
NM_000271.5(NPC1):c.1758-15T>C rs755600050 0.00005
NM_000271.5(NPC1):c.1902T>C (p.Tyr634=) rs141293476 0.00005
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253 0.00005
NM_000271.5(NPC1):c.3519A>G (p.Arg1173=) rs775542483 0.00005
NM_000271.5(NPC1):c.3750C>T (p.Tyr1250=) rs758814720 0.00005
NM_000271.5(NPC1):c.3812A>C (p.Glu1271Ala) rs773448915 0.00005
NM_000271.5(NPC1):c.956-10G>A rs755660832 0.00005
NM_000543.5(SMPD1):c.1091+13C>T rs371340833 0.00005
NM_000543.5(SMPD1):c.1165C>T (p.Arg389Cys) rs570674743 0.00005
NM_000543.5(SMPD1):c.1764G>A (p.Thr588=) rs774989668 0.00005
NM_000543.5(SMPD1):c.618C>T (p.Leu206=) rs776180872 0.00005
NM_000543.5(SMPD1):c.894G>C (p.Leu298=) rs371688255 0.00005
NM_001083116.3(PRF1):c.1111A>G (p.Arg371Gly) rs566891566 0.00005
NM_001083116.3(PRF1):c.164G>A (p.Arg55His) rs140385034 0.00005
NM_001083116.3(PRF1):c.591C>T (p.Leu197=) rs767273601 0.00005
NM_001083116.3(PRF1):c.749C>T (p.Thr250Met) rs775966864 0.00005
NM_001083116.3(PRF1):c.756C>T (p.Asn252=) rs150053969 0.00005
NM_001083116.3(PRF1):c.796A>G (p.Ile266Val) rs200824018 0.00005
NM_002435.3(MPI):c.132G>A (p.Lys44=) rs778577329 0.00005
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572 0.00005
NM_003664.5(AP3B1):c.532T>C (p.Tyr178His) rs777268122 0.00005
NM_003664.5(AP3B1):c.603+20G>A rs377222228 0.00005
NM_003764.4(STX11):c.106G>C (p.Glu36Gln) rs373333798 0.00005
NM_003764.4(STX11):c.686T>G (p.Leu229Trp) rs757611316 0.00005
NM_003764.4(STX11):c.863A>G (p.Ter288Trp) rs1175891876 0.00005
NM_005045.4(RELN):c.10358G>A (p.Arg3453Gln) rs200731411 0.00005
NM_005045.4(RELN):c.1795C>T (p.Arg599Cys) rs369272208 0.00005
NM_005045.4(RELN):c.2112C>T (p.Ser704=) rs760775607 0.00005
NM_005045.4(RELN):c.2464A>G (p.Arg822Gly) rs945117892 0.00005
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr) rs757915171 0.00005
NM_005045.4(RELN):c.3125C>T (p.Ser1042Leu) rs41276145 0.00005
NM_005045.4(RELN):c.3190G>A (p.Ala1064Thr) rs114389730 0.00005
NM_005045.4(RELN):c.338-9T>C rs759501468 0.00005
NM_005045.4(RELN):c.4227C>T (p.Ser1409=) rs149436053 0.00005
NM_005045.4(RELN):c.4497C>T (p.Asp1499=) rs374062563 0.00005
NM_005045.4(RELN):c.4512-5C>T rs776406996 0.00005
NM_005045.4(RELN):c.5002A>G (p.Met1668Val) rs762369288 0.00005
NM_005045.4(RELN):c.5070T>C (p.Asn1690=) rs781123359 0.00005
NM_005045.4(RELN):c.5220G>A (p.Arg1740=) rs774453752 0.00005
NM_005045.4(RELN):c.6190C>T (p.His2064Tyr) rs767258528 0.00005
NM_005045.4(RELN):c.6887C>T (p.Pro2296Leu) rs764561610 0.00005
NM_005045.4(RELN):c.698C>T (p.Ala233Val) rs371936391 0.00005
NM_005045.4(RELN):c.699G>A (p.Ala233=) rs780491620 0.00005
NM_005045.4(RELN):c.7423G>A (p.Val2475Ile) rs764015748 0.00005
NM_005045.4(RELN):c.7828A>G (p.Met2610Val) rs200076453 0.00005
NM_005045.4(RELN):c.8493G>A (p.Pro2831=) rs374053764 0.00005
NM_005045.4(RELN):c.9109G>C (p.Glu3037Gln) rs142059680 0.00005
NM_005045.4(RELN):c.9478C>G (p.Leu3160Val) rs185075003 0.00005
NM_005045.4(RELN):c.9633G>A (p.Lys3211=) rs114211457 0.00005
NM_006270.5(RRAS):c.495C>T (p.His165=) rs765681955 0.00005
NM_006270.5(RRAS):c.645C>T (p.Cys215=) rs149038492 0.00005
NM_006432.5(NPC2):c.264T>C (p.Pro88=) rs1011669605 0.00005
NM_006432.5(NPC2):c.30C>T (p.Leu10=) rs142190691 0.00005
NM_006432.5(NPC2):c.333T>G (p.Asn111Lys) rs757377148 0.00005
NM_006939.4(SOS2):c.121A>G (p.Asn41Asp) rs575983927 0.00005
NM_006939.4(SOS2):c.2058-16C>T rs577436233 0.00005
NM_006939.4(SOS2):c.244A>G (p.Ile82Val) rs545263131 0.00005
NM_006939.4(SOS2):c.2606T>C (p.Val869Ala) rs750095346 0.00005
NM_006939.4(SOS2):c.2955G>A (p.Met985Ile) rs367670036 0.00005
NM_006939.4(SOS2):c.3644C>G (p.Thr1215Ser) rs773877975 0.00005
NM_006939.4(SOS2):c.458G>A (p.Arg153Gln) rs779591050 0.00005
NM_006949.4(STXBP2):c.1002G>A (p.Pro334=) rs770925163 0.00005
NM_006949.4(STXBP2):c.1356+5G>A rs748635794 0.00005
NM_006949.4(STXBP2):c.1376G>A (p.Arg459Gln) rs201164454 0.00005
NM_006949.4(STXBP2):c.1506C>T (p.Pro502=) rs773575515 0.00005
NM_006949.4(STXBP2):c.1597C>T (p.Arg533Trp) rs747482928 0.00005
NM_006949.4(STXBP2):c.240G>A (p.Thr80=) rs372370815 0.00005
NM_006949.4(STXBP2):c.334G>A (p.Glu112Lys) rs368824770 0.00005
NM_006949.4(STXBP2):c.759G>A (p.Ala253=) rs145260482 0.00005
NM_006949.4(STXBP2):c.902+19C>T rs200887480 0.00005
NM_006949.4(STXBP2):c.960+9G>A rs371345040 0.00005
NM_018344.6(SLC29A3):c.112C>T (p.Arg38Cys) rs143154754 0.00005
NM_018344.6(SLC29A3):c.270C>T (p.Thr90=) rs745763781 0.00005
NM_018344.6(SLC29A3):c.798G>A (p.Ala266=) rs370631755 0.00005
NM_032638.5(GATA2):c.1431C>T (p.Thr477=) rs754297885 0.00005
NM_032638.5(GATA2):c.213C>T (p.Ser71=) rs759513417 0.00005
NM_032638.5(GATA2):c.49C>T (p.Leu17=) rs752025757 0.00005
NM_183235.3(RAB27A):c.276T>C (p.Ala92=) rs376589113 0.00005
NM_199242.3(UNC13D):c.1134C>T (p.Ile378=) rs751624266 0.00005
NM_199242.3(UNC13D):c.1156C>T (p.Arg386Trp) rs536336944 0.00005
NM_199242.3(UNC13D):c.117+9G>C rs1009838525 0.00005
NM_199242.3(UNC13D):c.1819C>G (p.Arg607Gly) rs374106771 0.00005
NM_199242.3(UNC13D):c.1848+2dup rs774635307 0.00005
NM_199242.3(UNC13D):c.2174A>G (p.Glu725Gly) rs757899809 0.00005
NM_199242.3(UNC13D):c.2654C>T (p.Ala885Val) rs539360933 0.00005
NM_199242.3(UNC13D):c.2813T>A (p.Leu938Gln) rs368779636 0.00005
NM_199242.3(UNC13D):c.3018C>T (p.Tyr1006=) rs775862197 0.00005
NM_199242.3(UNC13D):c.3030G>A (p.Gly1010=) rs767150175 0.00005
NM_199242.3(UNC13D):c.3052G>T (p.Ala1018Ser) rs553992292 0.00005
NM_199242.3(UNC13D):c.570-18G>A rs200526730 0.00005
NM_199242.3(UNC13D):c.67C>T (p.Arg23Cys) rs575632298 0.00005
NM_199242.3(UNC13D):c.857G>A (p.Arg286Gln) rs139155193 0.00005
NM_199242.3(UNC13D):c.898G>A (p.Val300Met) rs141499220 0.00005
NM_000081.4(LYST):c.110C>T (p.Thr37Met) rs375106444 0.00004
NM_000081.4(LYST):c.11354G>A (p.Arg3785His) rs370173269 0.00004
NM_000081.4(LYST):c.1290G>A (p.Met430Ile) rs779163460 0.00004
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys) rs374284011 0.00004
NM_000081.4(LYST):c.1541G>A (p.Arg514Gln) rs564745712 0.00004
NM_000081.4(LYST):c.2745T>G (p.Ser915=) rs200179826 0.00004
NM_000081.4(LYST):c.3107A>C (p.Glu1036Ala) rs559751044 0.00004
NM_000081.4(LYST):c.3465A>G (p.Gln1155=) rs142982293 0.00004
NM_000081.4(LYST):c.3876A>G (p.Val1292=) rs144664809 0.00004
NM_000081.4(LYST):c.3940-5T>C rs757967032 0.00004
NM_000081.4(LYST):c.4705A>C (p.Asn1569His) rs767687843 0.00004
NM_000081.4(LYST):c.5061T>C (p.Tyr1687=) rs80338658 0.00004
NM_000081.4(LYST):c.6185G>A (p.Gly2062Glu) rs756651685 0.00004
NM_000081.4(LYST):c.6737T>G (p.Leu2246Arg) rs200231136 0.00004
NM_000081.4(LYST):c.7690G>A (p.Ala2564Thr) rs759733310 0.00004
NM_000081.4(LYST):c.8607A>G (p.Gln2869=) rs369484787 0.00004
NM_000081.4(LYST):c.9616G>C (p.Asp3206His) rs746911004 0.00004
NM_000081.4(LYST):c.9804A>G (p.Pro3268=) rs368740409 0.00004
NM_000271.5(NPC1):c.1010G>A (p.Arg337Gln) rs373390781 0.00004
NM_000271.5(NPC1):c.1085C>A (p.Thr362Asn) rs761903316 0.00004
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln) rs150053420 0.00004
NM_000271.5(NPC1):c.1166G>A (p.Arg389His) rs373751051 0.00004
NM_000271.5(NPC1):c.123T>C (p.Asn41=) rs777848348 0.00004
NM_000271.5(NPC1):c.1275G>A (p.Ser425=) rs190032589 0.00004
NM_000271.5(NPC1):c.1327-9T>A rs375922122 0.00004
NM_000271.5(NPC1):c.1440C>T (p.Thr480=) rs1376199501 0.00004
NM_000271.5(NPC1):c.1581T>A (p.Ser527Arg) rs769935106 0.00004
NM_000271.5(NPC1):c.1608G>A (p.Thr536=) rs372770463 0.00004
NM_000271.5(NPC1):c.1629G>A (p.Pro543=) rs557129077 0.00004
NM_000271.5(NPC1):c.1671C>T (p.Asn557=) rs772427096 0.00004
NM_000271.5(NPC1):c.1712A>G (p.Tyr571Cys) rs750033860 0.00004
NM_000271.5(NPC1):c.181-4A>C rs374571310 0.00004
NM_000271.5(NPC1):c.1947+12G>T rs886053666 0.00004
NM_000271.5(NPC1):c.1947+19G>C rs781264557 0.00004
NM_000271.5(NPC1):c.2141G>A (p.Arg714His) rs375047023 0.00004
NM_000271.5(NPC1):c.2275A>G (p.Thr759Ala) rs776873102 0.00004
NM_000271.5(NPC1):c.2352G>C (p.Gly784=) rs140103678 0.00004
NM_000271.5(NPC1):c.2456G>A (p.Arg819His) rs751952669 0.00004
NM_000271.5(NPC1):c.2514+15G>A rs765825660 0.00004
NM_000271.5(NPC1):c.2556C>T (p.Val852=) rs767066917 0.00004
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) rs528841924 0.00004
NM_000271.5(NPC1):c.2911+4C>T rs186588103 0.00004
NM_000271.5(NPC1):c.2912-5G>A rs369985476 0.00004
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr) rs374719153 0.00004
NM_000271.5(NPC1):c.3129C>T (p.Thr1043=) rs750054620 0.00004
NM_000271.5(NPC1):c.3132G>A (p.Val1044=) rs138054593 0.00004
NM_000271.5(NPC1):c.3489C>T (p.Ile1163=) rs911696662 0.00004
NM_000271.5(NPC1):c.3506G>T (p.Ser1169Ile) rs139612110 0.00004
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys) rs145297180 0.00004
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321 0.00004
NM_000271.5(NPC1):c.546C>T (p.Asp182=) rs572499557 0.00004
NM_000271.5(NPC1):c.695A>G (p.Asp232Gly) rs201956601 0.00004
NM_000543.5(SMPD1):c.1082G>A (p.Arg361His) rs148892841 0.00004
NM_000543.5(SMPD1):c.1166G>A (p.Arg389His) rs750345585 0.00004
NM_000543.5(SMPD1):c.1197G>A (p.Thr399=) rs755182589 0.00004
NM_000543.5(SMPD1):c.1233G>A (p.Glu411=) rs34555120 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=) rs140770832 0.00004
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217 0.00004
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys) rs375570126 0.00004
NM_000543.5(SMPD1):c.319-10C>T rs749287829 0.00004
NM_000543.5(SMPD1):c.39C>T (p.Pro13=) rs775473869 0.00004
NM_000543.5(SMPD1):c.472G>A (p.Ala158Thr) rs369566518 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.552G>A (p.Pro184=) rs768265842 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.605G>A (p.Arg202His) rs757850587 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_001083116.3(PRF1):c.1203G>A (p.Ala401=) rs748445504 0.00004
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp) rs139322149 0.00004
NM_001083116.3(PRF1):c.1314T>A (p.Tyr438Ter) rs1431972351 0.00004
NM_001083116.3(PRF1):c.1558C>T (p.Arg520Cys) rs377162454 0.00004
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs) rs1564723449 0.00004
NM_001083116.3(PRF1):c.259C>T (p.Arg87Cys) rs781070813 0.00004
NM_001083116.3(PRF1):c.382G>A (p.Asp128Asn) rs776708052 0.00004
NM_001083116.3(PRF1):c.570C>A (p.His190Gln) rs764108625 0.00004
NM_001083116.3(PRF1):c.592G>A (p.Gly198Arg) rs759235360 0.00004
NM_001083116.3(PRF1):c.609C>A (p.His203Gln) rs772537976 0.00004
NM_001083116.3(PRF1):c.614A>G (p.Asn205Ser) rs770354747 0.00004
NM_001083116.3(PRF1):c.65C>T (p.Pro22Leu) rs528937278 0.00004
NM_001083116.3(PRF1):c.718C>T (p.Arg240Cys) rs754850577 0.00004
NM_001083116.3(PRF1):c.719G>A (p.Arg240His) rs751390468 0.00004
NM_001083116.3(PRF1):c.824A>C (p.Glu275Ala) rs763119215 0.00004
NM_001083116.3(PRF1):c.903G>A (p.Ser301=) rs763207236 0.00004
NM_001083116.3(PRF1):c.924C>T (p.His308=) rs771923778 0.00004
NM_001083116.3(PRF1):c.936C>T (p.Asn312=) rs749015711 0.00004
NM_001083116.3(PRF1):c.97C>T (p.Arg33Cys) rs777782785 0.00004
NM_002435.3(MPI):c.1053+15A>G rs564765063 0.00004
NM_002435.3(MPI):c.1175G>A (p.Arg392His) rs762164813 0.00004
NM_003664.5(AP3B1):c.1325G>A (p.Cys442Tyr) rs1032054339 0.00004
NM_003664.5(AP3B1):c.1821T>C (p.Leu607=) rs768721394 0.00004
NM_003664.5(AP3B1):c.1837+16A>G rs757331102 0.00004
NM_003664.5(AP3B1):c.1838-5A>G rs779897317 0.00004
NM_003664.5(AP3B1):c.1862C>G (p.Thr621Ser) rs796196281 0.00004
NM_003664.5(AP3B1):c.196A>G (p.Ile66Val) rs779404585 0.00004
NM_003664.5(AP3B1):c.2132A>T (p.Asp711Val) rs145162631 0.00004
NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln) rs151028592 0.00004
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg) rs764312417 0.00004
NM_003664.5(AP3B1):c.388C>T (p.Leu130=) rs138774723 0.00004
NM_003664.5(AP3B1):c.536+20del rs773391461 0.00004
NM_003664.5(AP3B1):c.648G>A (p.Pro216=) rs773924247 0.00004
NM_003664.5(AP3B1):c.854A>G (p.Asp285Gly) rs554863664 0.00004
NM_003764.4(STX11):c.277A>G (p.Ile93Val) rs979857096 0.00004
NM_003764.4(STX11):c.423C>T (p.Arg141=) rs768985732 0.00004
NM_003764.4(STX11):c.428T>C (p.Met143Thr) rs137981428 0.00004
NM_003764.4(STX11):c.651G>T (p.Leu217=) rs761372226 0.00004
NM_003764.4(STX11):c.738G>A (p.Glu246=) rs984613653 0.00004
NM_005045.4(RELN):c.10026G>A (p.Thr3342=) rs542352292 0.00004
NM_005045.4(RELN):c.10086A>G (p.Gln3362=) rs765769069 0.00004
NM_005045.4(RELN):c.1008T>C (p.Gly336=) rs754967827 0.00004
NM_005045.4(RELN):c.10097A>G (p.Asn3366Ser) rs148140675 0.00004
NM_005045.4(RELN):c.10101C>T (p.Asn3367=) rs757164573 0.00004
NM_005045.4(RELN):c.10102G>A (p.Gly3368Arg) rs753769576 0.00004
NM_005045.4(RELN):c.10122C>T (p.Ile3374=) rs767729538 0.00004
NM_005045.4(RELN):c.10182-9G>A rs1004382075 0.00004
NM_005045.4(RELN):c.10275C>T (p.Val3425=) rs750834800 0.00004
NM_005045.4(RELN):c.1101G>A (p.Val367=) rs938271576 0.00004
NM_005045.4(RELN):c.1197C>T (p.Ser399=) rs199686580 0.00004
NM_005045.4(RELN):c.1320A>G (p.Thr440=) rs376968265 0.00004
NM_005045.4(RELN):c.1381T>C (p.Leu461=) rs142746698 0.00004
NM_005045.4(RELN):c.1554+5A>G rs778678895 0.00004
NM_005045.4(RELN):c.1649G>T (p.Arg550Met) rs773589573 0.00004
NM_005045.4(RELN):c.1690C>A (p.Leu564Ile) rs748901010 0.00004
NM_005045.4(RELN):c.1817C>T (p.Thr606Ile) rs540111252 0.00004
NM_005045.4(RELN):c.185C>T (p.Ala62Val) rs756018749 0.00004
NM_005045.4(RELN):c.2006A>T (p.Tyr669Phe) rs139445071 0.00004
NM_005045.4(RELN):c.2016G>A (p.Pro672=) rs146749232 0.00004
NM_005045.4(RELN):c.2084T>A (p.Phe695Tyr) rs750188972 0.00004
NM_005045.4(RELN):c.2095G>A (p.Ala699Thr) rs543233426 0.00004
NM_005045.4(RELN):c.2185A>C (p.Ile729Leu) rs745693220 0.00004
NM_005045.4(RELN):c.2303+10G>T rs771875822 0.00004
NM_005045.4(RELN):c.2453A>G (p.Tyr818Cys) rs771201055 0.00004
NM_005045.4(RELN):c.245C>T (p.Thr82Ile) rs368049573 0.00004
NM_005045.4(RELN):c.2466A>C (p.Arg822Ser) rs779002595 0.00004
NM_005045.4(RELN):c.2779A>G (p.Met927Val) rs546154419 0.00004
NM_005045.4(RELN):c.3504A>G (p.Leu1168=) rs756850516 0.00004
NM_005045.4(RELN):c.3593G>A (p.Arg1198His) rs114655373 0.00004
NM_005045.4(RELN):c.37C>T (p.Leu13=) rs775635007 0.00004
NM_005045.4(RELN):c.3804C>T (p.Thr1268=) rs373549838 0.00004
NM_005045.4(RELN):c.4020G>A (p.Pro1340=) rs200206522 0.00004
NM_005045.4(RELN):c.4042G>A (p.Glu1348Lys) rs773149531 0.00004
NM_005045.4(RELN):c.4133C>G (p.Ser1378Cys) rs751271323 0.00004
NM_005045.4(RELN):c.4228G>A (p.Glu1410Lys) rs374927338 0.00004
NM_005045.4(RELN):c.4703C>T (p.Ala1568Val) rs767133532 0.00004
NM_005045.4(RELN):c.490C>T (p.Arg164Trp) rs776886354 0.00004
NM_005045.4(RELN):c.529T>A (p.Leu177Met) rs772643458 0.00004
NM_005045.4(RELN):c.5359C>T (p.Arg1787Trp) rs115549751 0.00004
NM_005045.4(RELN):c.5530-20G>A rs565309348 0.00004
NM_005045.4(RELN):c.5599A>C (p.Arg1867=) rs753376558 0.00004
NM_005045.4(RELN):c.6073-8T>A rs371292456 0.00004
NM_005045.4(RELN):c.6102A>T (p.Ser2034=) rs368034037 0.00004
NM_005045.4(RELN):c.6169C>G (p.Leu2057Val) rs764185528 0.00004
NM_005045.4(RELN):c.6214G>A (p.Glu2072Lys) rs147042966 0.00004
NM_005045.4(RELN):c.6274G>A (p.Val2092Met) rs752081680 0.00004
NM_005045.4(RELN):c.6401A>G (p.Glu2134Gly) rs1023433954 0.00004
NM_005045.4(RELN):c.65G>T (p.Arg22Met) rs139532757 0.00004
NM_005045.4(RELN):c.6632G>A (p.Arg2211His) rs374088118 0.00004
NM_005045.4(RELN):c.667A>G (p.Asn223Asp) rs555425719 0.00004
NM_005045.4(RELN):c.6698G>A (p.Gly2233Glu) rs139819388 0.00004
NM_005045.4(RELN):c.6759C>T (p.Asn2253=) rs548135273 0.00004
NM_005045.4(RELN):c.6875G>A (p.Arg2292His) rs565382144 0.00004
NM_005045.4(RELN):c.7035C>T (p.Pro2345=) rs906374670 0.00004
NM_005045.4(RELN):c.7339C>G (p.Pro2447Ala) rs371476408 0.00004
NM_005045.4(RELN):c.7590C>A (p.Asn2530Lys) rs766869538 0.00004
NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile) rs202172902 0.00004
NM_005045.4(RELN):c.7939G>A (p.Gly2647Ser) rs781392761 0.00004
NM_005045.4(RELN):c.8051G>A (p.Arg2684His) rs201157987 0.00004
NM_005045.4(RELN):c.8068G>A (p.Gly2690Ser) rs201264902 0.00004
NM_005045.4(RELN):c.8119+16C>T rs572656670 0.00004
NM_005045.4(RELN):c.8119+17G>A rs377519588 0.00004
NM_005045.4(RELN):c.8366T>C (p.Leu2789Pro) rs752208462 0.00004
NM_005045.4(RELN):c.8730A>G (p.Glu2910=) rs746880275 0.00004
NM_005045.4(RELN):c.8745C>T (p.Cys2915=) rs1035653741 0.00004
NM_005045.4(RELN):c.9605+6T>A rs376881823 0.00004
NM_005045.4(RELN):c.965A>G (p.Glu322Gly) rs778506754 0.00004
NM_005045.4(RELN):c.9725C>T (p.Thr3242Met) rs763717800 0.00004
NM_006270.5(RRAS):c.154-5G>A rs753238136 0.00004
NM_006270.5(RRAS):c.324C>T (p.Phe108=) rs578092373 0.00004
NM_006270.5(RRAS):c.38G>A (p.Arg13Gln) rs764597042 0.00004
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn) rs374650566 0.00004
NM_006270.5(RRAS):c.453+5G>A rs766707816 0.00004
NM_006270.5(RRAS):c.481G>A (p.Gly161Ser) rs758697481 0.00004
NM_006270.5(RRAS):c.543G>A (p.Glu181=) rs370876982 0.00004
NM_006270.5(RRAS):c.598C>T (p.Pro200Ser) rs548040971 0.00004
NM_006270.5(RRAS):c.646G>A (p.Val216Ile) rs748655822 0.00004
NM_006432.5(NPC2):c.168C>T (p.Ser56=) rs761208847 0.00004
NM_006432.5(NPC2):c.190+17C>G rs572299295 0.00004
NM_006432.5(NPC2):c.190+4C>T rs776980208 0.00004
NM_006432.5(NPC2):c.442-8A>C rs758764082 0.00004
NM_006432.5(NPC2):c.57C>T (p.Ala19=) rs752818745 0.00004
NM_006912.6(RIT1):c.231T>C (p.Ala77=) rs144170253 0.00004
NM_006912.6(RIT1):c.291C>A (p.Ile97=) rs377326705 0.00004
NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr) rs745807905 0.00004
NM_006912.6(RIT1):c.635G>A (p.Arg212Gln) rs764347644 0.00004
NM_006939.4(SOS2):c.1281C>T (p.Ile427=) rs8010578 0.00004
NM_006939.4(SOS2):c.147A>G (p.Glu49=) rs1030329651 0.00004
NM_006939.4(SOS2):c.1584T>C (p.Ser528=) rs374642561 0.00004
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser) rs1391029692 0.00004
NM_006939.4(SOS2):c.2162-16T>C rs764585497 0.00004
NM_006939.4(SOS2):c.2220A>C (p.Gln740His) rs576277421 0.00004
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn) rs181275468 0.00004
NM_006939.4(SOS2):c.2275A>G (p.Ile759Val) rs956839910 0.00004
NM_006939.4(SOS2):c.2388A>G (p.Lys796=) rs1884441136 0.00004
NM_006939.4(SOS2):c.257C>T (p.Ala86Val) rs146272145 0.00004
NM_006939.4(SOS2):c.2668-5T>C rs1045852656 0.00004
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly) rs761320331 0.00004
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser) rs201874067 0.00004
NM_006939.4(SOS2):c.3335G>A (p.Cys1112Tyr) rs756103351 0.00004
NM_006939.4(SOS2):c.338C>T (p.Ser113Leu) rs751240491 0.00004
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr) rs935249167 0.00004
NM_006939.4(SOS2):c.3553G>T (p.Val1185Leu) rs778368766 0.00004
NM_006939.4(SOS2):c.3673G>C (p.Glu1225Gln) rs769329817 0.00004
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg) rs569343105 0.00004
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg) rs759124324 0.00004
NM_006939.4(SOS2):c.3960C>T (p.Tyr1320=) rs766057658 0.00004
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu) rs770603835 0.00004
NM_006939.4(SOS2):c.644G>A (p.Arg215Gln) rs538341032 0.00004
NM_006939.4(SOS2):c.811A>G (p.Ser271Gly) rs775494170 0.00004
NM_006939.4(SOS2):c.837C>T (p.Ser279=) rs542617984 0.00004
NM_006939.4(SOS2):c.970-19A>G rs369274700 0.00004
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_006949.4(STXBP2):c.1065G>A (p.Lys355=) rs756291718 0.00004
NM_006949.4(STXBP2):c.1068C>T (p.His356=) rs376159991 0.00004
NM_006949.4(STXBP2):c.1184A>G (p.Asp395Gly) rs751931943 0.00004
NM_006949.4(STXBP2):c.1188G>A (p.Ala396=) rs371355447 0.00004
NM_006949.4(STXBP2):c.1356+4C>T rs369000333 0.00004
NM_006949.4(STXBP2):c.1386G>A (p.Pro462=) rs778481780 0.00004
NM_006949.4(STXBP2):c.1452+7G>T rs746604591 0.00004
NM_006949.4(STXBP2):c.1453-6C>T rs200538123 0.00004
NM_006949.4(STXBP2):c.1456G>A (p.Ala486Thr) rs199839827 0.00004
NM_006949.4(STXBP2):c.1548C>T (p.Phe516=) rs201641708 0.00004
NM_006949.4(STXBP2):c.1671C>T (p.Thr557=) rs750599225 0.00004
NM_006949.4(STXBP2):c.1672G>A (p.Glu558Lys) rs758554274 0.00004
NM_006949.4(STXBP2):c.169+10C>G rs187240521 0.00004
NM_006949.4(STXBP2):c.1719G>A (p.Pro573=) rs377263310 0.00004
NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln) rs141717050 0.00004
NM_006949.4(STXBP2):c.275A>T (p.Gln92Leu) rs779265777 0.00004
NM_006949.4(STXBP2):c.27G>C (p.Val9=) rs969393527 0.00004
NM_006949.4(STXBP2):c.358C>T (p.Arg120Cys) rs140745219 0.00004
NM_006949.4(STXBP2):c.507C>G (p.Leu169=) rs373301117 0.00004
NM_006949.4(STXBP2):c.541G>A (p.Ala181Thr) rs1338883281 0.00004
NM_006949.4(STXBP2):c.603G>T (p.Leu201Phe) rs188212047 0.00004
NM_006949.4(STXBP2):c.610G>A (p.Ala204Thr) rs373450263 0.00004
NM_006949.4(STXBP2):c.612C>T (p.Ala204=) rs113033216 0.00004
NM_006949.4(STXBP2):c.663+10C>T rs375337142 0.00004
NM_006949.4(STXBP2):c.747C>T (p.Phe249=) rs772393674 0.00004
NM_012388.4(BLOC1S6):c.131T>C (p.Ile44Thr) rs374731803 0.00004
NM_012388.4(BLOC1S6):c.47C>T (p.Pro16Leu) rs1042113102 0.00004
NM_012388.4(BLOC1S6):c.72G>A (p.Glu24=) rs768535324 0.00004
NM_018344.6(SLC29A3):c.1010C>T (p.Ser337Leu) rs200249218 0.00004
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) rs387907067 0.00004
NM_018344.6(SLC29A3):c.1201C>T (p.Arg401Cys) rs746998307 0.00004
NM_018344.6(SLC29A3):c.247C>T (p.Arg83Cys) rs773118427 0.00004
NM_018344.6(SLC29A3):c.337G>A (p.Val113Met) rs180984559 0.00004
NM_018344.6(SLC29A3):c.419C>T (p.Thr140Met) rs374153053 0.00004
NM_018344.6(SLC29A3):c.611-20G>A rs751652482 0.00004
NM_018344.6(SLC29A3):c.636C>T (p.Ser212=) rs769787723 0.00004
NM_018344.6(SLC29A3):c.708G>A (p.Thr236=) rs763763770 0.00004
NM_018344.6(SLC29A3):c.830C>T (p.Pro277Leu) rs146113694 0.00004
NM_032638.5(GATA2):c.1017+14C>T rs747442262 0.00004
NM_032638.5(GATA2):c.1017+485A>T rs745812924 0.00004
NM_032638.5(GATA2):c.1053T>C (p.Asn351=) rs544866789 0.00004
NM_032638.5(GATA2):c.1143+9G>A rs533617078 0.00004
NM_032638.5(GATA2):c.1242C>T (p.Phe414=) rs751577185 0.00004
NM_032638.5(GATA2):c.1331C>T (p.Pro444Leu) rs781161922 0.00004
NM_032638.5(GATA2):c.1391G>T (p.Ser464Ile) rs770949428 0.00004
NM_032638.5(GATA2):c.358C>T (p.Pro120Ser) rs144794596 0.00004
NM_032638.5(GATA2):c.363C>T (p.Phe121=) rs1352824690 0.00004
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro) rs746362966 0.00004
NM_032638.5(GATA2):c.612A>G (p.Arg204=) rs758507997 0.00004
NM_032638.5(GATA2):c.801C>T (p.Pro267=) rs376351188 0.00004
NM_183235.3(RAB27A):c.168T>C (p.Ser56=) rs376232909 0.00004
NM_183235.3(RAB27A):c.257C>T (p.Thr86Ile) rs369777755 0.00004
NM_183235.3(RAB27A):c.344G>A (p.Ser115Asn) rs183582444 0.00004
NM_183235.3(RAB27A):c.383T>C (p.Ile128Thr) rs143719577 0.00004
NM_183235.3(RAB27A):c.467G>C (p.Gly156Ala) rs200031368 0.00004
NM_183235.3(RAB27A):c.49G>A (p.Asp17Asn) rs777995262 0.00004
NM_183235.3(RAB27A):c.620C>T (p.Thr207Met) rs151048993 0.00004
NM_199242.3(UNC13D):c.1039T>C (p.Phe347Leu) rs777550761 0.00004
NM_199242.3(UNC13D):c.118-9G>C rs527842266 0.00004
NM_199242.3(UNC13D):c.1279C>T (p.Arg427Trp) rs779947557 0.00004
NM_199242.3(UNC13D):c.154-13C>A rs908049021 0.00004
NM_199242.3(UNC13D):c.1597G>A (p.Val533Met) rs201663917 0.00004
NM_199242.3(UNC13D):c.1849-7C>T rs753980375 0.00004
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys) rs376137910 0.00004
NM_199242.3(UNC13D):c.2003G>A (p.Arg668His) rs143939013 0.00004
NM_199242.3(UNC13D):c.2111A>G (p.Asp704Gly) rs762112010 0.00004
NM_199242.3(UNC13D):c.2137G>A (p.Gly713Ser) rs115353346 0.00004
NM_199242.3(UNC13D):c.2146C>T (p.Pro716Ser) rs774476484 0.00004
NM_199242.3(UNC13D):c.2149G>A (p.Ala717Thr) rs771145468 0.00004
NM_199242.3(UNC13D):c.2223G>A (p.Leu741=) rs768037542 0.00004
NM_199242.3(UNC13D):c.2250C>T (p.Ala750=) rs146737486 0.00004
NM_199242.3(UNC13D):c.2298+11C>T rs770114072 0.00004
NM_199242.3(UNC13D):c.2340C>T (p.Gly780=) rs556654678 0.00004
NM_199242.3(UNC13D):c.2496G>A (p.Ala832=) rs763343306 0.00004
NM_199242.3(UNC13D):c.2554-13A>G rs533490795 0.00004
NM_199242.3(UNC13D):c.2676C>A (p.Ile892=) rs2064865151 0.00004
NM_199242.3(UNC13D):c.2710-12T>C rs374302602 0.00004
NM_199242.3(UNC13D):c.2768C>G (p.Ser923Cys) rs200441303 0.00004
NM_199242.3(UNC13D):c.280G>A (p.Glu94Lys) rs537781874 0.00004
NM_199242.3(UNC13D):c.2897G>A (p.Arg966Gln) rs761351250 0.00004
NM_199242.3(UNC13D):c.2917A>G (p.Lys973Glu) rs373478612 0.00004
NM_199242.3(UNC13D):c.2954+17C>T rs538544253 0.00004
NM_199242.3(UNC13D):c.3062C>T (p.Pro1021Leu) rs375153464 0.00004
NM_199242.3(UNC13D):c.3067C>T (p.Arg1023Cys) rs140599939 0.00004
NM_199242.3(UNC13D):c.3081G>C (p.Gly1027=) rs761028266 0.00004
NM_199242.3(UNC13D):c.3248A>C (p.Gln1083Pro) rs766632931 0.00004
NM_199242.3(UNC13D):c.3263C>T (p.Pro1088Leu) rs564329348 0.00004
NM_199242.3(UNC13D):c.335G>C (p.Cys112Ser) rs141540493 0.00004
NM_199242.3(UNC13D):c.519G>A (p.Thr173=) rs370278536 0.00004
NM_199242.3(UNC13D):c.569+10C>T rs368069154 0.00004
NM_199242.3(UNC13D):c.5C>T (p.Ala2Val) rs752295384 0.00004
NM_199242.3(UNC13D):c.602A>G (p.His201Arg) rs200033170 0.00004
NM_199242.3(UNC13D):c.663G>A (p.Thr221=) rs771266801 0.00004
NM_199242.3(UNC13D):c.680G>A (p.Arg227His) rs751394792 0.00004
NM_199242.3(UNC13D):c.754-9G>A rs765308578 0.00004
NM_199242.3(UNC13D):c.859-3C>T rs563600513 0.00004
NM_199242.3(UNC13D):c.962C>A (p.Thr321Asn) rs372716881 0.00004
NM_199242.3(UNC13D):c.973G>A (p.Gly325Arg) rs199909864 0.00004
NM_000081.4(LYST):c.10758C>T (p.Cys3586=) rs145136281 0.00003
NM_000081.4(LYST):c.10870G>A (p.Val3624Ile) rs776033238 0.00003
NM_000081.4(LYST):c.10965G>C (p.Ala3655=) rs762254542 0.00003
NM_000081.4(LYST):c.1500G>A (p.Arg500=) rs758029213 0.00003
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly) rs140284566 0.00003
NM_000081.4(LYST):c.2679T>G (p.Val893=) rs765192422 0.00003
NM_000081.4(LYST):c.3177T>C (p.Ala1059=) rs371576746 0.00003
NM_000081.4(LYST):c.4566A>C (p.Ala1522=) rs142344106 0.00003
NM_000081.4(LYST):c.4632C>T (p.Ser1544=) rs373930104 0.00003
NM_000081.4(LYST):c.6264C>T (p.Ser2088=) rs748529967 0.00003
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr) rs186152859 0.00003
NM_000081.4(LYST):c.7997T>A (p.Ile2666Asn) rs369246831 0.00003
NM_000081.4(LYST):c.8259G>A (p.Ser2753=) rs116017878 0.00003
NM_000081.4(LYST):c.8497G>A (p.Ala2833Thr) rs200813210 0.00003
NM_000081.4(LYST):c.85G>A (p.Ala29Thr) rs755173231 0.00003
NM_000081.4(LYST):c.9992G>A (p.Arg3331His) rs771978663 0.00003
NM_000271.5(NPC1):c.110A>G (p.Asp37Gly) rs776181190 0.00003
NM_000271.5(NPC1):c.1140C>G (p.Leu380=) rs746501807 0.00003
NM_000271.5(NPC1):c.1221G>C (p.Gln407His) rs765539977 0.00003
NM_000271.5(NPC1):c.1504G>A (p.Asp502Asn) rs1416446081 0.00003
NM_000271.5(NPC1):c.1533G>A (p.Thr511=) rs778890495 0.00003
NM_000271.5(NPC1):c.1548C>T (p.Cys516=) rs763680535 0.00003
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417 0.00003
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser) rs201156397 0.00003
NM_000271.5(NPC1):c.1756G>A (p.Glu586Lys) rs369753548 0.00003
NM_000271.5(NPC1):c.181-16C>T rs574028536 0.00003
NM_000271.5(NPC1):c.1869C>T (p.Thr623=) rs1359876392 0.00003
NM_000271.5(NPC1):c.1938C>T (p.Arg646=) rs767794928 0.00003
NM_000271.5(NPC1):c.1947+7_1947+10dup rs1555634678 0.00003
NM_000271.5(NPC1):c.2001G>A (p.Ser667=) rs762100560 0.00003
NM_000271.5(NPC1):c.2130+10C>G rs776389852 0.00003
NM_000271.5(NPC1):c.2268C>T (p.Ala756=) rs536329623 0.00003
NM_000271.5(NPC1):c.232C>T (p.Arg78Trp) rs766822145 0.00003
NM_000271.5(NPC1):c.2397C>T (p.Cys799=) rs769196521 0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774 0.00003
NM_000271.5(NPC1):c.2614A>G (p.Met872Val) rs769612789 0.00003
NM_000271.5(NPC1):c.2727C>T (p.Cys909=) rs774773656 0.00003
NM_000271.5(NPC1):c.2796-4C>T rs374406578 0.00003
NM_000271.5(NPC1):c.2820G>A (p.Ser940=) rs754664476 0.00003
NM_000271.5(NPC1):c.2832C>T (p.Asp944=) rs780019300 0.00003
NM_000271.5(NPC1):c.2959A>C (p.Lys987Gln) rs969498640 0.00003
NM_000271.5(NPC1):c.3042-18C>T rs370846875 0.00003
NM_000271.5(NPC1):c.3324G>A (p.Ala1108=) rs373245725 0.00003
NM_000271.5(NPC1):c.3527C>T (p.Thr1176Met) rs558264503 0.00003
NM_000271.5(NPC1):c.3689T>C (p.Leu1230Ser) rs374150662 0.00003
NM_000271.5(NPC1):c.3818A>G (p.Glu1273Gly) rs374032318 0.00003
NM_000271.5(NPC1):c.813C>T (p.Ile271=) rs1243631694 0.00003
NM_000271.5(NPC1):c.89A>T (p.Glu30Val) rs776166330 0.00003
NM_000271.5(NPC1):c.936T>G (p.Ser312=) rs377568493 0.00003
NM_000271.5(NPC1):c.963G>A (p.Ala321=) rs763990769 0.00003
NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser) rs761144309 0.00003
NM_000543.5(SMPD1):c.1431G>A (p.Pro477=) rs138588535 0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.558G>A (p.Pro186=) rs1464825418 0.00003
NM_000543.5(SMPD1):c.58G>A (p.Gly20Arg) rs538153468 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_000543.5(SMPD1):c.843C>T (p.Ile281=) rs1457587365 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_000543.5(SMPD1):c.991C>T (p.Pro331Ser) rs142476839 0.00003
NM_001083116.3(PRF1):c.1038G>C (p.Leu346=) rs762946719 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001083116.3(PRF1):c.112G>A (p.Val38Met) rs201909472 0.00003
NM_001083116.3(PRF1):c.1136G>A (p.Arg379Gln) rs746431351 0.00003
NM_001083116.3(PRF1):c.1317G>A (p.Val439=) rs767189454 0.00003
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met) rs189650890 0.00003
NM_001083116.3(PRF1):c.180A>G (p.Pro60=) rs747004967 0.00003
NM_001083116.3(PRF1):c.367C>T (p.Arg123Cys) rs370935432 0.00003
NM_001083116.3(PRF1):c.407C>G (p.Thr136Ser) rs1031096686 0.00003
NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn) rs779399414 0.00003
NM_001083116.3(PRF1):c.624C>T (p.Thr208=) rs375086595 0.00003
NM_001083116.3(PRF1):c.98G>A (p.Arg33His) rs531407289 0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_002435.3(MPI):c.144+12G>T rs369867765 0.00003
NM_002435.3(MPI):c.162C>T (p.His54=) rs763885017 0.00003
NM_002435.3(MPI):c.69C>T (p.Ser23=) rs140124850 0.00003
NM_002435.3(MPI):c.780T>C (p.Leu260=) rs371012451 0.00003
NM_003664.5(AP3B1):c.1095+20G>A rs1003488988 0.00003
NM_003664.5(AP3B1):c.1168-3T>C rs751674819 0.00003
NM_003664.5(AP3B1):c.1322C>T (p.Thr441Met) rs556341477 0.00003
NM_003664.5(AP3B1):c.1473+11A>G rs373481590 0.00003
NM_003664.5(AP3B1):c.193C>T (p.Arg65Trp) rs758616866 0.00003
NM_003664.5(AP3B1):c.2172G>A (p.Gln724=) rs551799202 0.00003
NM_003664.5(AP3B1):c.2572A>G (p.Ile858Val) rs150765181 0.00003
NM_003664.5(AP3B1):c.279+6G>A rs1269853831 0.00003
NM_003664.5(AP3B1):c.2987A>G (p.Glu996Gly) rs746992047 0.00003
NM_003664.5(AP3B1):c.2992+10G>A rs375250754 0.00003
NM_003664.5(AP3B1):c.3054T>C (p.Thr1018=) rs746152289 0.00003
NM_003664.5(AP3B1):c.519A>G (p.Ala173=) rs747459337 0.00003
NM_003664.5(AP3B1):c.603+19C>T rs201278348 0.00003
NM_003664.5(AP3B1):c.679C>T (p.Arg227Cys) rs748972774 0.00003
NM_003664.5(AP3B1):c.785A>G (p.Glu262Gly) rs756321242 0.00003
NM_003664.5(AP3B1):c.877A>G (p.Met293Val) rs538390986 0.00003
NM_003764.4(STX11):c.237C>T (p.Leu79=) rs201775530 0.00003
NM_003764.4(STX11):c.281A>G (p.Lys94Arg) rs371402170 0.00003
NM_003764.4(STX11):c.403C>T (p.Leu135Phe) rs748690313 0.00003
NM_003764.4(STX11):c.573G>A (p.Glu191=) rs772078139 0.00003
NM_005045.4(RELN):c.10373G>A (p.Arg3458Gln) rs766401565 0.00003
NM_005045.4(RELN):c.1055A>G (p.Asn352Ser) rs768851752 0.00003
NM_005045.4(RELN):c.126C>T (p.His42=) rs1332446482 0.00003
NM_005045.4(RELN):c.1294G>T (p.Asp432Tyr) rs765630155 0.00003
NM_005045.4(RELN):c.1892+19A>G rs768149641 0.00003
NM_005045.4(RELN):c.1923C>T (p.Asn641=) rs753289916 0.00003
NM_005045.4(RELN):c.2176T>A (p.Phe726Ile) rs200007424 0.00003
NM_005045.4(RELN):c.2252A>C (p.Lys751Thr) rs116504075 0.00003
NM_005045.4(RELN):c.227-7A>G rs753968613 0.00003
NM_005045.4(RELN):c.23G>A (p.Arg8Gln) rs765261158 0.00003
NM_005045.4(RELN):c.2476G>A (p.Val826Ile) rs369844245 0.00003
NM_005045.4(RELN):c.2697C>T (p.Thr899=) rs368168602 0.00003
NM_005045.4(RELN):c.2730A>T (p.Ser910=) rs913959839 0.00003
NM_005045.4(RELN):c.2789T>C (p.Phe930Ser) rs747512816 0.00003
NM_005045.4(RELN):c.2938G>C (p.Ala980Pro) rs373969392 0.00003
NM_005045.4(RELN):c.3029G>A (p.Arg1010His) rs373089551 0.00003
NM_005045.4(RELN):c.3051A>G (p.Thr1017=) rs368869061 0.00003
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu) rs116225248 0.00003
NM_005045.4(RELN):c.3207T>C (p.Ile1069=) rs774113517 0.00003
NM_005045.4(RELN):c.3217T>G (p.Phe1073Val) rs1402561512 0.00003
NM_005045.4(RELN):c.334T>C (p.Phe112Leu) rs201754586 0.00003
NM_005045.4(RELN):c.3639A>G (p.Ala1213=) rs765398068 0.00003
NM_005045.4(RELN):c.40G>A (p.Ala14Thr) rs147551940 0.00003
NM_005045.4(RELN):c.4145+20T>G rs1258615041 0.00003
NM_005045.4(RELN):c.415A>G (p.Thr139Ala) rs1239164551 0.00003
NM_005045.4(RELN):c.4191C>T (p.Asn1397=) rs544646610 0.00003
NM_005045.4(RELN):c.4227C>A (p.Ser1409=) rs149436053 0.00003
NM_005045.4(RELN):c.4314A>T (p.Gly1438=) rs368010584 0.00003
NM_005045.4(RELN):c.4352T>C (p.Phe1451Ser) rs137965786 0.00003
NM_005045.4(RELN):c.4353C>T (p.Phe1451=) rs370743731 0.00003
NM_005045.4(RELN):c.4434C>G (p.Asn1478Lys) rs375118721 0.00003
NM_005045.4(RELN):c.4640G>A (p.Arg1547Gln) rs774277969 0.00003
NM_005045.4(RELN):c.4644G>A (p.Glu1548=) rs763043124 0.00003
NM_005045.4(RELN):c.4679T>C (p.Ile1560Thr) rs1435209493 0.00003
NM_005045.4(RELN):c.4946G>A (p.Arg1649His) rs748067380 0.00003
NM_005045.4(RELN):c.5023C>G (p.Pro1675Ala) rs770657475 0.00003
NM_005045.4(RELN):c.5157G>A (p.Ser1719=) rs144388452 0.00003
NM_005045.4(RELN):c.544+6C>T rs537314807 0.00003
NM_005045.4(RELN):c.5455G>C (p.Glu1819Gln) rs201017713 0.00003
NM_005045.4(RELN):c.5529+10A>T rs371510474 0.00003
NM_005045.4(RELN):c.6079G>A (p.Val2027Ile) rs753782715 0.00003
NM_005045.4(RELN):c.6123G>T (p.Leu2041=) rs772766583 0.00003
NM_005045.4(RELN):c.6240C>T (p.Tyr2080=) rs201505136 0.00003
NM_005045.4(RELN):c.6241G>A (p.Ala2081Thr) rs761368012 0.00003
NM_005045.4(RELN):c.6470C>T (p.Pro2157Leu) rs1412766990 0.00003
NM_005045.4(RELN):c.6735C>T (p.Pro2245=) rs1158442529 0.00003
NM_005045.4(RELN):c.6789G>A (p.Glu2263=) rs748936767 0.00003
NM_005045.4(RELN):c.6888G>A (p.Pro2296=) rs142792443 0.00003
NM_005045.4(RELN):c.7121A>G (p.Glu2374Gly) rs1227348163 0.00003
NM_005045.4(RELN):c.7147G>A (p.Ala2383Thr) rs978248682 0.00003
NM_005045.4(RELN):c.7253A>G (p.Asn2418Ser) rs145844782 0.00003
NM_005045.4(RELN):c.7310A>G (p.Lys2437Arg) rs762951578 0.00003
NM_005045.4(RELN):c.7431C>T (p.Ile2477=) rs775529885 0.00003
NM_005045.4(RELN):c.7568A>G (p.Asn2523Ser) rs561828305 0.00003
NM_005045.4(RELN):c.7635C>T (p.Ala2545=) rs114894883 0.00003
NM_005045.4(RELN):c.7953C>T (p.Asn2651=) rs148056599 0.00003
NM_005045.4(RELN):c.795A>G (p.Gln265=) rs749580328 0.00003
NM_005045.4(RELN):c.8174C>T (p.Ser2725Phe) rs138975709 0.00003
NM_005045.4(RELN):c.850G>A (p.Val284Met) rs149397714 0.00003
NM_005045.4(RELN):c.8552A>T (p.Tyr2851Phe) rs1319092399 0.00003
NM_005045.4(RELN):c.855A>G (p.Leu285=) rs749680856 0.00003
NM_005045.4(RELN):c.8624C>T (p.Pro2875Leu) rs761738403 0.00003
NM_005045.4(RELN):c.8692A>G (p.Ser2898Gly) rs773262289 0.00003
NM_005045.4(RELN):c.8703C>A (p.Ile2901=) rs367803009 0.00003
NM_005045.4(RELN):c.8839G>A (p.Ala2947Thr) rs141307064 0.00003
NM_005045.4(RELN):c.9091A>T (p.Ile3031Phe) rs773318461 0.00003
NM_005045.4(RELN):c.9110A>T (p.Glu3037Val) rs200611412 0.00003
NM_005045.4(RELN):c.914A>G (p.Asn305Ser) rs150372878 0.00003
NM_005045.4(RELN):c.9171A>G (p.Gln3057=) rs746201944 0.00003
NM_005045.4(RELN):c.9282T>C (p.Tyr3094=) rs1432133683 0.00003
NM_005045.4(RELN):c.9415G>A (p.Val3139Ile) rs751817326 0.00003
NM_005045.4(RELN):c.9463G>A (p.Val3155Ile) rs769668891 0.00003
NM_005045.4(RELN):c.957C>G (p.Ala319=) rs1028221579 0.00003
NM_005045.4(RELN):c.9594T>C (p.His3198=) rs145730672 0.00003
NM_005045.4(RELN):c.9643A>G (p.Thr3215Ala) rs142094612 0.00003
NM_005045.4(RELN):c.9750C>T (p.Asp3250=) rs539337691 0.00003
NM_005045.4(RELN):c.9753G>C (p.Glu3251Asp) rs756854888 0.00003
NM_005045.4(RELN):c.9984-4T>G rs750222270 0.00003
NM_006270.5(RRAS):c.175G>C (p.Asp59His) rs775437600 0.00003
NM_006270.5(RRAS):c.241+9G>A rs750643775 0.00003
NM_006270.5(RRAS):c.291C>T (p.Tyr97=) rs780638908 0.00003
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser) rs745911237 0.00003
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys) rs533583599 0.00003
NM_006270.5(RRAS):c.461G>A (p.Arg154Gln) rs1039650903 0.00003
NM_006270.5(RRAS):c.573-13C>T rs372538436 0.00003
NM_006270.5(RRAS):c.573-19C>G rs377060262 0.00003
NM_006270.5(RRAS):c.649C>G (p.Leu217Val) rs988964363 0.00003
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061 0.00003
NM_006432.5(NPC2):c.169G>A (p.Val57Ile) rs774036281 0.00003
NM_006432.5(NPC2):c.216C>T (p.Ala72=) rs773861377 0.00003
NM_006432.5(NPC2):c.305A>G (p.Gln102Arg) rs930750290 0.00003
NM_006432.5(NPC2):c.453C>G (p.Leu151=) rs766378122 0.00003
NM_006432.5(NPC2):c.83-4G>A rs758359849 0.00003
NM_006912.6(RIT1):c.45C>G (p.Pro15=) rs748838734 0.00003
NM_006912.6(RIT1):c.498A>C (p.Ala166=) rs375734733 0.00003
NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys) rs763208084 0.00003
NM_006939.4(SOS2):c.1005T>C (p.Tyr335=) rs753698896 0.00003
NM_006939.4(SOS2):c.1069-10T>C rs201686942 0.00003
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys) rs375244948 0.00003
NM_006939.4(SOS2):c.1282G>A (p.Asp428Asn) rs146283711 0.00003
NM_006939.4(SOS2):c.1356T>C (p.Gly452=) rs746956553 0.00003
NM_006939.4(SOS2):c.1417C>T (p.His473Tyr) rs756637706 0.00003
NM_006939.4(SOS2):c.1852+18C>G rs768521644 0.00003
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171 0.00003
NM_006939.4(SOS2):c.260T>C (p.Ile87Thr) rs747274422 0.00003
NM_006939.4(SOS2):c.2668-4T>C rs763298498 0.00003
NM_006939.4(SOS2):c.2978A>T (p.Asn993Ile) rs776000121 0.00003
NM_006939.4(SOS2):c.3380-15C>G rs748112343 0.00003
NM_006939.4(SOS2):c.3490-14C>T rs200796041 0.00003
NM_006939.4(SOS2):c.3490-3G>T rs1399710421 0.00003
NM_006939.4(SOS2):c.3497T>C (p.Met1166Thr) rs764483791 0.00003
NM_006939.4(SOS2):c.3606T>C (p.Ser1202=) rs539432390 0.00003
NM_006939.4(SOS2):c.3814C>T (p.Arg1272Cys) rs1005498417 0.00003
NM_006939.4(SOS2):c.3981T>C (p.Asn1327=) rs527576404 0.00003
NM_006939.4(SOS2):c.540C>T (p.Asp180=) rs189555369 0.00003
NM_006939.4(SOS2):c.63A>G (p.Gly21=) rs761849560 0.00003
NM_006939.4(SOS2):c.927C>T (p.Phe309=) rs1308740864 0.00003
NM_006949.4(STXBP2):c.1026+3G>A rs759183489 0.00003
NM_006949.4(STXBP2):c.1108-5C>T rs200577190 0.00003
NM_006949.4(STXBP2):c.116G>A (p.Arg39His) rs200306463 0.00003
NM_006949.4(STXBP2):c.1173G>A (p.Pro391=) rs201135827 0.00003
NM_006949.4(STXBP2):c.1185C>T (p.Asp395=) rs759967009 0.00003
NM_006949.4(STXBP2):c.1203C>T (p.Tyr401=) rs373267410 0.00003
NM_006949.4(STXBP2):c.1263C>T (p.Asn421=) rs772865803 0.00003
NM_006949.4(STXBP2):c.1353C>T (p.Pro451=) rs376551499 0.00003
NM_006949.4(STXBP2):c.1362G>A (p.Ser454=) rs980486322 0.00003
NM_006949.4(STXBP2):c.1374C>T (p.Ser458=) rs1265788012 0.00003
NM_006949.4(STXBP2):c.1420C>T (p.Arg474Cys) rs759586229 0.00003
NM_006949.4(STXBP2):c.1453-10C>T rs368488488 0.00003
NM_006949.4(STXBP2):c.1453-9G>A rs372742473 0.00003
NM_006949.4(STXBP2):c.1500C>T (p.Ser500=) rs368696592 0.00003
NM_006949.4(STXBP2):c.1620C>T (p.Gly540=) rs374131788 0.00003
NM_006949.4(STXBP2):c.234C>T (p.Ser78=) rs1481967878 0.00003
NM_006949.4(STXBP2):c.321C>T (p.Thr107=) rs886054703 0.00003
NM_006949.4(STXBP2):c.364C>T (p.Arg122Cys) rs371725400 0.00003
NM_006949.4(STXBP2):c.429+3_429+9dup rs747472367 0.00003
NM_006949.4(STXBP2):c.48C>T (p.Ser16=) rs138548712 0.00003
NM_006949.4(STXBP2):c.533C>T (p.Thr178Met) rs762234445 0.00003
NM_006949.4(STXBP2):c.579-4C>T rs575135858 0.00003
NM_006949.4(STXBP2):c.680G>A (p.Arg227His) rs200855062 0.00003
NM_006949.4(STXBP2):c.808G>T (p.Gly270Trp) rs187320742 0.00003
NM_006949.4(STXBP2):c.824G>A (p.Arg275Gln) rs149111957 0.00003
NM_006949.4(STXBP2):c.835G>A (p.Val279Ile) rs753242709 0.00003
NM_006949.4(STXBP2):c.847G>A (p.Glu283Lys) rs778489407 0.00003
NM_006949.4(STXBP2):c.869A>G (p.Glu290Gly) rs1353855735 0.00003
NM_006949.4(STXBP2):c.981C>A (p.Ser327=) rs755154858 0.00003
NM_012388.4(BLOC1S6):c.130A>G (p.Ile44Val) rs564232908 0.00003
NM_012388.4(BLOC1S6):c.224C>T (p.Thr75Ile) rs768978261 0.00003
NM_012388.4(BLOC1S6):c.315T>G (p.Phe105Leu) rs759539185 0.00003
NM_018344.6(SLC29A3):c.1099G>A (p.Ala367Thr) rs769137288 0.00003
NM_018344.6(SLC29A3):c.1168A>T (p.Ile390Phe) rs780141497 0.00003
NM_018344.6(SLC29A3):c.1173C>T (p.Pro391=) rs781693842 0.00003
NM_018344.6(SLC29A3):c.1203C>T (p.Arg401=) rs762952345 0.00003
NM_018344.6(SLC29A3):c.146G>C (p.Arg49Pro) rs201610819 0.00003
NM_018344.6(SLC29A3):c.271G>A (p.Gly91Arg) rs772093728 0.00003
NM_018344.6(SLC29A3):c.400C>T (p.Arg134Cys) rs1430557607 0.00003
NM_018344.6(SLC29A3):c.420G>A (p.Thr140=) rs374748823 0.00003
NM_018344.6(SLC29A3):c.625G>A (p.Gly209Arg) rs779712924 0.00003
NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu) rs758201217 0.00003
NM_032638.5(GATA2):c.1095C>T (p.Asn365=) rs146814201 0.00003
NM_032638.5(GATA2):c.1122C>T (p.Gly374=) rs910687146 0.00003
NM_032638.5(GATA2):c.1206C>T (p.Asn402=) rs376420351 0.00003
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_032638.5(GATA2):c.1320G>A (p.Val440=) rs775080624 0.00003
NM_032638.5(GATA2):c.1347C>A (p.Ser449=) rs150052821 0.00003
NM_032638.5(GATA2):c.156C>G (p.Leu52=) rs201821076 0.00003
NM_032638.5(GATA2):c.383C>T (p.Pro128Leu) rs1405092589 0.00003
NM_032638.5(GATA2):c.457G>A (p.Gly153Arg) rs369637181 0.00003
NM_032638.5(GATA2):c.480C>T (p.Thr160=) rs199640729 0.00003
NM_032638.5(GATA2):c.543G>A (p.Val181=) rs547329727 0.00003
NM_032638.5(GATA2):c.628G>A (p.Gly210Ser) rs765555593 0.00003
NM_032638.5(GATA2):c.654G>A (p.Thr218=) rs34632959 0.00003
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val) rs539575657 0.00003
NM_183235.3(RAB27A):c.252A>G (p.Leu84=) rs4340274 0.00003
NM_183235.3(RAB27A):c.344-10A>G rs199702031 0.00003
NM_183235.3(RAB27A):c.453C>T (p.Leu151=) rs753732362 0.00003
NM_183235.3(RAB27A):c.468-16T>C rs747032887 0.00003
NM_183235.3(RAB27A):c.474C>T (p.Pro158=) rs777485094 0.00003
NM_199242.3(UNC13D):c.1447-8C>G rs760322200 0.00003
NM_199242.3(UNC13D):c.1477G>A (p.Gly493Ser) rs759754878 0.00003
NM_199242.3(UNC13D):c.1500C>T (p.Gly500=) rs199672701 0.00003
NM_199242.3(UNC13D):c.1515C>T (p.Cys505=) rs139327831 0.00003
NM_199242.3(UNC13D):c.1730A>C (p.Asp577Ala) rs1011649256 0.00003
NM_199242.3(UNC13D):c.1830C>T (p.Arg610=) rs572194095 0.00003
NM_199242.3(UNC13D):c.197G>A (p.Arg66His) rs371943727 0.00003
NM_199242.3(UNC13D):c.2254C>A (p.Leu752Met) rs756749933 0.00003
NM_199242.3(UNC13D):c.2258_2259insA (p.His754fs) rs1163596220 0.00003
NM_199242.3(UNC13D):c.2282G>A (p.Arg761His) rs760020541 0.00003
NM_199242.3(UNC13D):c.2448-8C>T rs764073748 0.00003
NM_199242.3(UNC13D):c.2491G>A (p.Glu831Lys) rs774039644 0.00003
NM_199242.3(UNC13D):c.2495C>T (p.Ala832Val) rs201931051 0.00003
NM_199242.3(UNC13D):c.2710-17C>T rs368196410 0.00003
NM_199242.3(UNC13D):c.2761C>T (p.Arg921Cys) rs373079371 0.00003
NM_199242.3(UNC13D):c.2972C>T (p.Pro991Leu) rs145549734 0.00003
NM_199242.3(UNC13D):c.3007G>A (p.Val1003Met) rs200462004 0.00003
NM_199242.3(UNC13D):c.3051G>A (p.Glu1017=) rs368211297 0.00003
NM_199242.3(UNC13D):c.3134C>T (p.Thr1045Met) rs201146973 0.00003
NM_199242.3(UNC13D):c.3142G>A (p.Ala1048Thr) rs758781229 0.00003
NM_199242.3(UNC13D):c.3223C>T (p.Arg1075Trp) rs370710344 0.00003
NM_199242.3(UNC13D):c.3224G>A (p.Arg1075Gln) rs377594755 0.00003
NM_199242.3(UNC13D):c.3260G>A (p.Arg1087Gln) rs760766927 0.00003
NM_199242.3(UNC13D):c.3264G>A (p.Pro1088=) rs755126817 0.00003
NM_199242.3(UNC13D):c.3270G>A (p.Pro1090=) rs545430645 0.00003
NM_199242.3(UNC13D):c.514C>T (p.Arg172Cys) rs560126604 0.00003
NM_199242.3(UNC13D):c.579G>A (p.Glu193=) rs201806234 0.00003
NM_199242.3(UNC13D):c.641G>A (p.Arg214Gln) rs761043074 0.00003
NM_199242.3(UNC13D):c.70C>A (p.Arg24Ser) rs749234163 0.00003
NM_199242.3(UNC13D):c.713G>A (p.Gly238Asp) rs775232059 0.00003
NM_199242.3(UNC13D):c.753+1G>T rs201908137 0.00003
NM_199242.3(UNC13D):c.754-10C>T rs183508320 0.00003
NM_199242.3(UNC13D):c.859-10C>T rs774669801 0.00003
NM_000081.4(LYST):c.10281C>T (p.Leu3427=) rs1362783408 0.00002
NM_000081.4(LYST):c.10286T>G (p.Ile3429Ser) rs760815034 0.00002
NM_000081.4(LYST):c.10416C>T (p.Tyr3472=) rs757982705 0.00002
NM_000081.4(LYST):c.111G>A (p.Thr37=) rs144446737 0.00002
NM_000081.4(LYST):c.2757G>A (p.Ser919=) rs753541871 0.00002
NM_000081.4(LYST):c.2870T>C (p.Met957Thr) rs201554916 0.00002
NM_000081.4(LYST):c.3354A>G (p.Arg1118=) rs777471673 0.00002
NM_000081.4(LYST):c.3461C>G (p.Thr1154Arg) rs756226516 0.00002
NM_000081.4(LYST):c.4455T>C (p.His1485=) rs372271452 0.00002
NM_000081.4(LYST):c.5833G>A (p.Ala1945Thr) rs750338502 0.00002
NM_000081.4(LYST):c.7631T>C (p.Met2544Thr) rs1371610729 0.00002
NM_000081.4(LYST):c.9834T>C (p.Thr3278=) rs901343967 0.00002
NM_000081.4(LYST):c.9926-9C>G rs772804757 0.00002
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser) rs199693280 0.00002
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp) rs1346436537 0.00002
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu) rs372445155 0.00002
NM_000271.5(NPC1):c.1422G>A (p.Pro474=) rs367900403 0.00002
NM_000271.5(NPC1):c.1709A>G (p.Tyr570Cys) rs755718928 0.00002
NM_000271.5(NPC1):c.1819C>A (p.Arg607=) rs377130051 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.1936C>T (p.Arg646Cys) rs368129141 0.00002
NM_000271.5(NPC1):c.1947+7C>T rs56394541 0.00002
NM_000271.5(NPC1):c.1948-16C>T rs749272156 0.00002
NM_000271.5(NPC1):c.1948-5C>T rs778035488 0.00002
NM_000271.5(NPC1):c.2130+13A>G rs748156837 0.00002
NM_000271.5(NPC1):c.2240T>C (p.Phe747Ser) rs1490823282 0.00002
NM_000271.5(NPC1):c.2245+16A>G rs766131698 0.00002
NM_000271.5(NPC1):c.2245+19C>T rs374377081 0.00002
NM_000271.5(NPC1):c.2337C>T (p.Phe779=) rs367654655 0.00002
NM_000271.5(NPC1):c.2347T>C (p.Leu783=) rs200384578 0.00002
NM_000271.5(NPC1):c.2413G>A (p.Glu805Lys) rs775077140 0.00002
NM_000271.5(NPC1):c.2449T>C (p.Leu817=) rs376980859 0.00002
NM_000271.5(NPC1):c.2593T>G (p.Ser865Ala) rs977397569 0.00002
NM_000271.5(NPC1):c.2598G>T (p.Met866Ile) rs1019159514 0.00002
NM_000271.5(NPC1):c.2643G>A (p.Gln881=) rs1350455118 0.00002
NM_000271.5(NPC1):c.2677C>T (p.Leu893=) rs756756960 0.00002
NM_000271.5(NPC1):c.2777C>T (p.Ala926Val) rs730880963 0.00002
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val) rs753768576 0.00002
NM_000271.5(NPC1):c.2790C>T (p.Asp930=) rs762053127 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000271.5(NPC1):c.2912-6C>T rs768256586 0.00002
NM_000271.5(NPC1):c.2928C>T (p.Cys976=) rs370766410 0.00002
NM_000271.5(NPC1):c.2951C>T (p.Pro984Leu) rs755143457 0.00002
NM_000271.5(NPC1):c.2952G>A (p.Pro984=) rs749366756 0.00002
NM_000271.5(NPC1):c.3048T>C (p.His1016=) rs369362891 0.00002
NM_000271.5(NPC1):c.306T>C (p.Tyr102=) rs751249367 0.00002
NM_000271.5(NPC1):c.3288C>T (p.Asp1096=) rs371093388 0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) rs758829443 0.00002
NM_000271.5(NPC1):c.3447G>A (p.Leu1149=) rs147249773 0.00002
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) rs765729815 0.00002
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105 0.00002
NM_000271.5(NPC1):c.3547C>T (p.Arg1183Cys) rs755029556 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933 0.00002
NM_000271.5(NPC1):c.3794A>T (p.Glu1265Val) rs751251790 0.00002
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs) rs773941375 0.00002
NM_000271.5(NPC1):c.47G>A (p.Cys16Tyr) rs1407142143 0.00002
NM_000271.5(NPC1):c.564C>T (p.Asn188=) rs1368112701 0.00002
NM_000271.5(NPC1):c.58-5T>G rs377124729 0.00002
NM_000271.5(NPC1):c.58-6C>T rs756180012 0.00002
NM_000271.5(NPC1):c.631+3A>G rs759746113 0.00002
NM_000271.5(NPC1):c.799G>A (p.Ala267Thr) rs886053667 0.00002
NM_000271.5(NPC1):c.900C>T (p.Ser300=) rs377728310 0.00002
NM_000271.5(NPC1):c.916G>A (p.Asp306Asn) rs747243586 0.00002
NM_000543.5(SMPD1):c.102C>G (p.Gly34=) rs889113421 0.00002
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) rs201550531 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.1203C>T (p.Pro401=) rs376494095 0.00002
NM_000543.5(SMPD1):c.1212G>A (p.Gln404=) rs771755385 0.00002
NM_000543.5(SMPD1):c.1302G>A (p.Leu434=) rs754326223 0.00002
NM_000543.5(SMPD1):c.1340+8G>A rs373742012 0.00002
NM_000543.5(SMPD1):c.1386G>A (p.Val462=) rs763521056 0.00002
NM_000543.5(SMPD1):c.138G>T (p.Ala46=) rs200763765 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_000543.5(SMPD1):c.1521C>T (p.Ser507=) rs149423664 0.00002
NM_000543.5(SMPD1):c.1794G>A (p.Gln598=) rs761689892 0.00002
NM_000543.5(SMPD1):c.198C>T (p.Pro66=) rs770037147 0.00002
NM_000543.5(SMPD1):c.234C>T (p.Pro78=) rs575601110 0.00002
NM_000543.5(SMPD1):c.318+10G>C rs367666720 0.00002
NM_000543.5(SMPD1):c.627G>C (p.Leu209=) rs200443318 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000543.5(SMPD1):c.766C>T (p.Leu256=) rs1218708186 0.00002
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr) rs752148586 0.00002
NM_000543.5(SMPD1):c.966A>G (p.Glu322=) rs746711794 0.00002
NM_001083116.3(PRF1):c.1196G>T (p.Gly399Val) rs749729753 0.00002
NM_001083116.3(PRF1):c.1305G>A (p.Thr435=) rs200167080 0.00002
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) rs751161742 0.00002
NM_001083116.3(PRF1):c.1444G>T (p.Val482Phe) rs760962796 0.00002
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys) rs200430442 0.00002
NM_001083116.3(PRF1):c.273G>A (p.Ala91=) rs778821122 0.00002
NM_001083116.3(PRF1):c.3G>A (p.Met1Ile) rs758728749 0.00002
NM_001083116.3(PRF1):c.540-12C>G rs770452852 0.00002
NM_001083116.3(PRF1):c.542T>C (p.Phe181Ser) rs770131011 0.00002
NM_001083116.3(PRF1):c.622A>T (p.Thr208Ser) rs769116034 0.00002
NM_001083116.3(PRF1):c.631G>A (p.Ala211Thr) rs762026835 0.00002
NM_001083116.3(PRF1):c.66G>A (p.Pro22=) rs901882400 0.00002
NM_001083116.3(PRF1):c.69C>T (p.Cys23=) rs761379626 0.00002
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys) rs758110629 0.00002
NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr) rs104894182 0.00002
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His) rs148237800 0.00002
NM_001083116.3(PRF1):c.89A>C (p.Glu30Ala) rs779192397 0.00002
NM_001083116.3(PRF1):c.921del (p.His308fs) rs777345151 0.00002
NM_001083116.3(PRF1):c.927C>T (p.Thr309=) rs142643493 0.00002
NM_002435.3(MPI):c.1064C>T (p.Ser355Phe) rs763169640 0.00002
NM_002435.3(MPI):c.1233G>A (p.Pro411=) rs746867428 0.00002
NM_002435.3(MPI):c.1271A>G (p.Ter424=) rs896962413 0.00002
NM_002435.3(MPI):c.17-7C>T rs539654088 0.00002
NM_002435.3(MPI):c.264del (p.Asp88fs) rs868127074 0.00002
NM_002435.3(MPI):c.345+20G>A rs772479528 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_002435.3(MPI):c.639C>T (p.Leu213=) rs763155512 0.00002
NM_002435.3(MPI):c.90G>A (p.Leu30=) rs760006403 0.00002
NM_003664.5(AP3B1):c.1050G>A (p.Gln350=) rs760881363 0.00002
NM_003664.5(AP3B1):c.1167+15A>G rs368393559 0.00002
NM_003664.5(AP3B1):c.1186T>C (p.Leu396=) rs574476271 0.00002
NM_003664.5(AP3B1):c.1331A>G (p.Asn444Ser) rs758805835 0.00002
NM_003664.5(AP3B1):c.1412T>A (p.Met471Lys) rs771964089 0.00002
NM_003664.5(AP3B1):c.1651-5A>G rs1356238571 0.00002
NM_003664.5(AP3B1):c.1722A>C (p.Thr574=) rs754956851 0.00002
NM_003664.5(AP3B1):c.1927G>A (p.Ala643Thr) rs775296594 0.00002
NM_003664.5(AP3B1):c.194G>A (p.Arg65Gln) rs150651515 0.00002
NM_003664.5(AP3B1):c.2048A>T (p.Glu683Val) rs768736531 0.00002
NM_003664.5(AP3B1):c.2287A>G (p.Lys763Glu) rs151082743 0.00002
NM_003664.5(AP3B1):c.2577T>C (p.Ser859=) rs755754414 0.00002
NM_003664.5(AP3B1):c.2700C>T (p.Val900=) rs756834284 0.00002
NM_003664.5(AP3B1):c.2895-19T>A rs779085657 0.00002
NM_003664.5(AP3B1):c.375+18T>A rs775724254 0.00002
NM_003664.5(AP3B1):c.466A>G (p.Lys156Glu) rs1424373279 0.00002
NM_003664.5(AP3B1):c.942+6T>C rs759015208 0.00002
NM_003664.5(AP3B1):c.943-9A>T rs776758618 0.00002
NM_003764.4(STX11):c.114C>A (p.Asp38Glu) rs760218913 0.00002
NM_003764.4(STX11):c.179C>T (p.Ala60Val) rs779751917 0.00002
NM_003764.4(STX11):c.183C>T (p.Asp61=) rs374922198 0.00002
NM_003764.4(STX11):c.370G>A (p.Val124Met) rs763273407 0.00002
NM_003764.4(STX11):c.463G>A (p.Asp155Asn) rs763642990 0.00002
NM_003764.4(STX11):c.585C>A (p.Ala195=) rs147525157 0.00002
NM_003764.4(STX11):c.614A>G (p.Asn205Ser) rs771215498 0.00002
NM_003764.4(STX11):c.842T>G (p.Phe281Cys) rs560006390 0.00002
NM_005045.4(RELN):c.10019C>T (p.Ser3340Leu) rs1469215547 0.00002
NM_005045.4(RELN):c.10020G>A (p.Ser3340=) rs760919496 0.00002
NM_005045.4(RELN):c.10025C>T (p.Thr3342Met) rs201703640 0.00002
NM_005045.4(RELN):c.10078C>A (p.Leu3360Met) rs372441410 0.00002
NM_005045.4(RELN):c.10104G>C (p.Gly3368=) rs939866881 0.00002
NM_005045.4(RELN):c.10152A>G (p.Gln3384=) rs763193763 0.00002
NM_005045.4(RELN):c.1192G>C (p.Gly398Arg) rs1055488676 0.00002
NM_005045.4(RELN):c.1278C>T (p.Ser426=) rs755465811 0.00002
NM_005045.4(RELN):c.1331C>T (p.Thr444Met) rs558024670 0.00002
NM_005045.4(RELN):c.1405A>G (p.Thr469Ala) rs182533022 0.00002
NM_005045.4(RELN):c.1521A>G (p.Ile507Met) rs115637425 0.00002
NM_005045.4(RELN):c.1555-18G>C rs368494804 0.00002
NM_005045.4(RELN):c.1555G>T (p.Val519Phe) rs560704715 0.00002
NM_005045.4(RELN):c.1560G>A (p.Pro520=) rs41276157 0.00002
NM_005045.4(RELN):c.166C>T (p.Leu56Phe) rs777758550 0.00002
NM_005045.4(RELN):c.1687G>C (p.Val563Leu) rs368090783 0.00002
NM_005045.4(RELN):c.1770C>T (p.Ser590=) rs146938907 0.00002
NM_005045.4(RELN):c.1880A>G (p.Glu627Gly) rs779007436 0.00002
NM_005045.4(RELN):c.1892+8C>T rs778110423 0.00002
NM_005045.4(RELN):c.1915C>A (p.Leu639Ile) rs150988816 0.00002
NM_005045.4(RELN):c.1936C>T (p.Arg646Trp) rs115831287 0.00002
NM_005045.4(RELN):c.1937G>A (p.Arg646Gln) rs377185504 0.00002
NM_005045.4(RELN):c.1948A>T (p.Ile650Phe) rs371652596 0.00002
NM_005045.4(RELN):c.2002+14C>A rs1432043969 0.00002
NM_005045.4(RELN):c.2086T>C (p.Ser696Pro) rs765274194 0.00002
NM_005045.4(RELN):c.2160C>G (p.Leu720=) rs749707289 0.00002
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys) rs768119894 0.00002
NM_005045.4(RELN):c.2189G>A (p.Arg730His) rs370858334 0.00002
NM_005045.4(RELN):c.226+4G>A rs749125854 0.00002
NM_005045.4(RELN):c.226+8C>T rs369454305 0.00002
NM_005045.4(RELN):c.2260C>T (p.Arg754Trp) rs759711654 0.00002
NM_005045.4(RELN):c.2403T>C (p.Tyr801=) rs1039314161 0.00002
NM_005045.4(RELN):c.2440T>C (p.Ser814Pro) rs764681189 0.00002
NM_005045.4(RELN):c.2466-6dup rs749708758 0.00002
NM_005045.4(RELN):c.2566A>G (p.Ile856Val) rs371309082 0.00002
NM_005045.4(RELN):c.2673G>A (p.Gln891=) rs201156261 0.00002
NM_005045.4(RELN):c.2688C>T (p.His896=) rs368049278 0.00002
NM_005045.4(RELN):c.2689G>A (p.Asp897Asn) rs115167821 0.00002
NM_005045.4(RELN):c.286A>G (p.Thr96Ala) rs564088219 0.00002
NM_005045.4(RELN):c.2876C>T (p.Thr959Ile) rs1003803083 0.00002
NM_005045.4(RELN):c.3203C>A (p.Thr1068Lys) rs758968274 0.00002
NM_005045.4(RELN):c.3260T>C (p.Ile1087Thr) rs769746244 0.00002
NM_005045.4(RELN):c.3266G>C (p.Gly1089Ala) rs768836895 0.00002
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg) rs780325204 0.00002
NM_005045.4(RELN):c.330C>T (p.Phe110=) rs1057521487 0.00002
NM_005045.4(RELN):c.3540-14T>A rs754915287 0.00002
NM_005045.4(RELN):c.3592C>T (p.Arg1198Cys) rs770490289 0.00002
NM_005045.4(RELN):c.3693C>T (p.Ile1231=) rs768631367 0.00002
NM_005045.4(RELN):c.3712-10T>G rs1436822883 0.00002
NM_005045.4(RELN):c.378C>T (p.Cys126=) rs576903015 0.00002
NM_005045.4(RELN):c.3952C>G (p.Pro1318Ala) rs140090640 0.00002
NM_005045.4(RELN):c.4047A>C (p.Gly1349=) rs769654805 0.00002
NM_005045.4(RELN):c.4135C>T (p.Leu1379Phe) rs1295939107 0.00002
NM_005045.4(RELN):c.4145+11C>T rs761694952 0.00002
NM_005045.4(RELN):c.4296A>G (p.Gly1432=) rs757003273 0.00002
NM_005045.4(RELN):c.4397C>T (p.Thr1466Ile) rs188328812 0.00002
NM_005045.4(RELN):c.4480C>T (p.Arg1494Trp) rs140263617 0.00002
NM_005045.4(RELN):c.462T>C (p.Cys154=) rs763130989 0.00002
NM_005045.4(RELN):c.4649A>T (p.Asp1550Val) rs781465325 0.00002
NM_005045.4(RELN):c.4654A>G (p.Met1552Val) rs558308794 0.00002
NM_005045.4(RELN):c.4740G>A (p.Pro1580=) rs377118940 0.00002
NM_005045.4(RELN):c.4856A>G (p.Asn1619Ser) rs977907677 0.00002
NM_005045.4(RELN):c.4983T>A (p.Ser1661=) rs758797491 0.00002
NM_005045.4(RELN):c.4985C>T (p.Thr1662Ile) rs750833122 0.00002
NM_005045.4(RELN):c.5005A>C (p.Ser1669Arg) rs1481028795 0.00002
NM_005045.4(RELN):c.5013C>A (p.Gly1671=) rs758902738 0.00002
NM_005045.4(RELN):c.5016T>C (p.Cys1672=) rs983510937 0.00002
NM_005045.4(RELN):c.5042G>A (p.Ser1681Asn) rs140931550 0.00002
NM_005045.4(RELN):c.5211-19T>G rs781738694 0.00002
NM_005045.4(RELN):c.5249A>G (p.Tyr1750Cys) rs1449221629 0.00002
NM_005045.4(RELN):c.5273C>T (p.Ala1758Val) rs753433967 0.00002
NM_005045.4(RELN):c.5324G>A (p.Arg1775Gln) rs748363492 0.00002
NM_005045.4(RELN):c.5350G>A (p.Val1784Met) rs374736779 0.00002
NM_005045.4(RELN):c.5403C>G (p.Pro1801=) rs747618744 0.00002
NM_005045.4(RELN):c.5406G>A (p.Ser1802=) rs780846874 0.00002
NM_005045.4(RELN):c.5419G>A (p.Asp1807Asn) rs558284872 0.00002
NM_005045.4(RELN):c.5490T>A (p.Gly1830=) rs774954791 0.00002
NM_005045.4(RELN):c.5613A>G (p.Lys1871=) rs368944281 0.00002
NM_005045.4(RELN):c.5615-16G>A rs1554377679 0.00002
NM_005045.4(RELN):c.5832C>T (p.Phe1944=) rs767598814 0.00002
NM_005045.4(RELN):c.5949A>G (p.Pro1983=) rs755847158 0.00002
NM_005045.4(RELN):c.6072+3A>G rs762092040 0.00002
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr) rs371614773 0.00002
NM_005045.4(RELN):c.6147G>A (p.Ala2049=) rs116750302 0.00002
NM_005045.4(RELN):c.6213C>T (p.Thr2071=) rs554215103 0.00002
NM_005045.4(RELN):c.6302+10C>T rs763483901 0.00002
NM_005045.4(RELN):c.6311G>A (p.Arg2104His) rs750878959 0.00002
NM_005045.4(RELN):c.6382A>G (p.Ile2128Val) rs766193427 0.00002
NM_005045.4(RELN):c.6404T>C (p.Met2135Thr) rs769784565 0.00002
NM_005045.4(RELN):c.6736G>A (p.Val2246Met) rs201561165 0.00002
NM_005045.4(RELN):c.6890C>G (p.Ser2297Cys) rs770361860 0.00002
NM_005045.4(RELN):c.6984A>G (p.Thr2328=) rs760013736 0.00002
NM_005045.4(RELN):c.6986C>T (p.Thr2329Ile) rs201403495 0.00002
NM_005045.4(RELN):c.7180+15T>C rs1262711164 0.00002
NM_005045.4(RELN):c.7282C>T (p.Arg2428Trp) rs751431158 0.00002
NM_005045.4(RELN):c.7531G>A (p.Glu2511Lys) rs367906773 0.00002
NM_005045.4(RELN):c.7640C>T (p.Ala2547Val) rs770539689 0.00002
NM_005045.4(RELN):c.7754T>G (p.Ile2585Ser) rs536676938 0.00002
NM_005045.4(RELN):c.7885C>G (p.Pro2629Ala) rs140515422 0.00002
NM_005045.4(RELN):c.7916G>A (p.Arg2639His) rs369735904 0.00002
NM_005045.4(RELN):c.7943T>C (p.Leu2648Pro) rs566580675 0.00002
NM_005045.4(RELN):c.7945G>A (p.Asp2649Asn) rs551447146 0.00002
NM_005045.4(RELN):c.8003C>T (p.Thr2668Ile) rs144249461 0.00002
NM_005045.4(RELN):c.8004C>T (p.Thr2668=) rs368087558 0.00002
NM_005045.4(RELN):c.8029G>A (p.Ala2677Thr) rs747571208 0.00002
NM_005045.4(RELN):c.8085C>T (p.Ile2695=) rs138241126 0.00002
NM_005045.4(RELN):c.8119+15G>A rs1388109815 0.00002
NM_005045.4(RELN):c.8153C>T (p.Thr2718Ile) rs1299766612 0.00002
NM_005045.4(RELN):c.8181T>G (p.Asp2727Glu) rs778861276 0.00002
NM_005045.4(RELN):c.821G>A (p.Arg274His) rs143781910 0.00002
NM_005045.4(RELN):c.8239C>A (p.Leu2747Met) rs775082646 0.00002
NM_005045.4(RELN):c.8274+7T>C rs777738604 0.00002
NM_005045.4(RELN):c.8595T>C (p.Asp2865=) rs751152954 0.00002
NM_005045.4(RELN):c.8640A>G (p.Pro2880=) rs369307806 0.00002
NM_005045.4(RELN):c.8668-8A>C rs756973928 0.00002
NM_005045.4(RELN):c.8766C>T (p.Ala2922=) rs115560688 0.00002
NM_005045.4(RELN):c.9076G>A (p.Val3026Met) rs766037038 0.00002
NM_005045.4(RELN):c.9237T>C (p.Ala3079=) rs749707073 0.00002
NM_005045.4(RELN):c.9444-7T>C rs905003547 0.00002
NM_005045.4(RELN):c.9606-4T>G rs768402555 0.00002
NM_005045.4(RELN):c.9673G>A (p.Val3225Met) rs755369509 0.00002
NM_005045.4(RELN):c.9680T>C (p.Ile3227Thr) rs1186557649 0.00002
NM_005045.4(RELN):c.9729C>T (p.Thr3243=) rs145542111 0.00002
NM_005045.4(RELN):c.9756C>T (p.Ser3252=) rs1344740466 0.00002
NM_005045.4(RELN):c.980A>G (p.Gln327Arg) rs890609228 0.00002
NM_005045.4(RELN):c.9826G>A (p.Ala3276Thr) rs781713047 0.00002
NM_005045.4(RELN):c.9933C>T (p.Gly3311=) rs532153046 0.00002
NM_005045.4(RELN):c.9977G>A (p.Arg3326Gln) rs766223649 0.00002
NM_006270.5(RRAS):c.10G>T (p.Gly4Trp) rs2081015843 0.00002
NM_006270.5(RRAS):c.232C>T (p.Arg78Trp) rs755565332 0.00002
NM_006270.5(RRAS):c.242-8C>T rs370459010 0.00002
NM_006270.5(RRAS):c.454-19G>A rs776793181 0.00002
NM_006270.5(RRAS):c.487T>C (p.Ser163Pro) rs1446034967 0.00002
NM_006270.5(RRAS):c.533A>G (p.Asn178Ser) rs762794552 0.00002
NM_006270.5(RRAS):c.572+20T>G rs1017127642 0.00002
NM_006270.5(RRAS):c.573-16T>A rs756598983 0.00002
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn) rs771557284 0.00002
NM_006270.5(RRAS):c.94C>T (p.Leu32=) rs764926027 0.00002
NM_006432.5(NPC2):c.207C>T (p.Ser69=) rs970173671 0.00002
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe) rs143960270 0.00002
NM_006432.5(NPC2):c.45C>A (p.Thr15=) rs1025180543 0.00002
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys) rs1213963509 0.00002
NM_006912.6(RIT1):c.368G>A (p.Arg123His) rs977405637 0.00002
NM_006912.6(RIT1):c.646G>A (p.Asp216Asn) rs545031201 0.00002
NM_006939.4(SOS2):c.1156G>C (p.Asp386His) rs776909576 0.00002
NM_006939.4(SOS2):c.1208G>C (p.Cys403Ser) rs201821194 0.00002
NM_006939.4(SOS2):c.1256A>C (p.Lys419Thr) rs199998698 0.00002
NM_006939.4(SOS2):c.1392C>T (p.Gly464=) rs188355135 0.00002
NM_006939.4(SOS2):c.156T>A (p.Ile52=) rs1343609817 0.00002
NM_006939.4(SOS2):c.1669T>C (p.Leu557=) rs370600053 0.00002
NM_006939.4(SOS2):c.2049A>G (p.Val683=) rs748361433 0.00002
NM_006939.4(SOS2):c.2115C>T (p.Asp705=) rs761930547 0.00002
NM_006939.4(SOS2):c.2191A>G (p.Ile731Val) rs746664310 0.00002
NM_006939.4(SOS2):c.2315T>G (p.Phe772Cys) rs200715068 0.00002
NM_006939.4(SOS2):c.2347G>T (p.Ala783Ser) rs774498876 0.00002
NM_006939.4(SOS2):c.2350C>T (p.Arg784Cys) rs760520078 0.00002
NM_006939.4(SOS2):c.2384+5A>G rs376903120 0.00002
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu) rs773672997 0.00002
NM_006939.4(SOS2):c.2492T>G (p.Leu831Arg) rs553153992 0.00002
NM_006939.4(SOS2):c.2541G>A (p.Val847=) rs1884432722 0.00002
NM_006939.4(SOS2):c.2590A>T (p.Asn864Tyr) rs781119008 0.00002
NM_006939.4(SOS2):c.2786-5dup rs768715951 0.00002
NM_006939.4(SOS2):c.3338-4A>G rs777684425 0.00002
NM_006939.4(SOS2):c.3339C>T (p.Gly1113=) rs756164627 0.00002
NM_006939.4(SOS2):c.3380-16T>A rs1174938001 0.00002
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly) rs375478974 0.00002
NM_006939.4(SOS2):c.3495T>C (p.Asn1165=) rs756887073 0.00002
NM_006939.4(SOS2):c.3523A>G (p.Ile1175Val) rs774571340 0.00002
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser) rs139401491 0.00002
NM_006939.4(SOS2):c.3641A>T (p.Asp1214Val) rs772043913 0.00002
NM_006939.4(SOS2):c.364G>A (p.Val122Met) rs1208838203 0.00002
NM_006939.4(SOS2):c.3681T>G (p.Phe1227Leu) rs748607274 0.00002
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu) rs752525400 0.00002
NM_006939.4(SOS2):c.3758G>C (p.Ser1253Thr) rs762593451 0.00002
NM_006939.4(SOS2):c.430T>C (p.Leu144=) rs746938099 0.00002
NM_006939.4(SOS2):c.714T>G (p.Ser238=) rs750665891 0.00002
NM_006939.4(SOS2):c.929A>G (p.Asn310Ser) rs746412601 0.00002
NM_006949.4(STXBP2):c.1026+9G>A rs201365133 0.00002
NM_006949.4(STXBP2):c.1027-3C>T rs760320854 0.00002
NM_006949.4(STXBP2):c.1079C>T (p.Ser360Leu) rs779452337 0.00002
NM_006949.4(STXBP2):c.1107+16C>T rs769535445 0.00002
NM_006949.4(STXBP2):c.1108-4G>A rs1175745070 0.00002
NM_006949.4(STXBP2):c.1190C>T (p.Ala397Val) rs1309026455 0.00002
NM_006949.4(STXBP2):c.1213C>T (p.Arg405Trp) rs769717341 0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln) rs773360200 0.00002
NM_006949.4(STXBP2):c.1246+16A>G rs756857906 0.00002
NM_006949.4(STXBP2):c.1247-9G>A rs375777278 0.00002
NM_006949.4(STXBP2):c.1290T>C (p.Asn430=) rs372890572 0.00002
NM_006949.4(STXBP2):c.1419C>T (p.Ser473=) rs774480794 0.00002
NM_006949.4(STXBP2):c.1468C>T (p.Arg490Trp) rs754527648 0.00002
NM_006949.4(STXBP2):c.1598G>A (p.Arg533Gln) rs147455069 0.00002
NM_006949.4(STXBP2):c.1653C>T (p.Tyr551=) rs767500700 0.00002
NM_006949.4(STXBP2):c.1662C>T (p.Thr554=) rs1423929519 0.00002
NM_006949.4(STXBP2):c.169+13G>A rs758194101 0.00002
NM_006949.4(STXBP2):c.1692C>T (p.Leu564=) rs899199010 0.00002
NM_006949.4(STXBP2):c.1742A>G (p.Lys581Arg) rs955110475 0.00002
NM_006949.4(STXBP2):c.205C>G (p.Pro69Ala) rs532380776 0.00002
NM_006949.4(STXBP2):c.247-14T>A rs751543240 0.00002
NM_006949.4(STXBP2):c.303G>A (p.Ala101=) rs766198135 0.00002
NM_006949.4(STXBP2):c.325+9G>A rs555724573 0.00002
NM_006949.4(STXBP2):c.326-11C>T rs759396575 0.00002
NM_006949.4(STXBP2):c.417C>G (p.Pro139=) rs756584035 0.00002
NM_006949.4(STXBP2):c.429+4C>T rs756813344 0.00002
NM_006949.4(STXBP2):c.441C>T (p.Leu147=) rs749948057 0.00002
NM_006949.4(STXBP2):c.579-20G>A rs564536916 0.00002
NM_006949.4(STXBP2):c.579-5G>A rs770074311 0.00002
NM_006949.4(STXBP2):c.650C>G (p.Pro217Arg) rs1243481529 0.00002
NM_006949.4(STXBP2):c.902+12C>T rs1473496130 0.00002
NM_006949.4(STXBP2):c.902+5G>A rs768725365 0.00002
NM_006949.4(STXBP2):c.954G>A (p.Thr318=) rs367553126 0.00002
NM_006949.4(STXBP2):c.960+6G>T rs772589071 0.00002
NM_006949.4(STXBP2):c.97A>G (p.Met33Val) rs769918010 0.00002
NM_012388.4(BLOC1S6):c.142G>T (p.Ala48Ser) rs200204287 0.00002
NM_012388.4(BLOC1S6):c.210C>T (p.Ala70=) rs761132701 0.00002
NM_012388.4(BLOC1S6):c.391A>G (p.Lys131Glu) rs1339131805 0.00002
NM_018344.6(SLC29A3):c.104T>G (p.Leu35Arg) rs531482844 0.00002
NM_018344.6(SLC29A3):c.1074T>A (p.Ala358=) rs779240655 0.00002
NM_018344.6(SLC29A3):c.1219G>A (p.Val407Met) rs144517514 0.00002
NM_018344.6(SLC29A3):c.1279G>A (p.Gly427Ser) rs121912583 0.00002
NM_018344.6(SLC29A3):c.1285C>A (p.Leu429Ile) rs745445966 0.00002
NM_018344.6(SLC29A3):c.1308C>T (p.Tyr436=) rs768605042 0.00002
NM_018344.6(SLC29A3):c.18G>A (p.Glu6=) rs758248725 0.00002
NM_018344.6(SLC29A3):c.257C>T (p.Ser86Phe) rs770658371 0.00002
NM_018344.6(SLC29A3):c.300+7G>A rs768206919 0.00002
NM_018344.6(SLC29A3):c.334A>G (p.Thr112Ala) rs374212391 0.00002
NM_018344.6(SLC29A3):c.401G>A (p.Arg134His) rs761175955 0.00002
NM_018344.6(SLC29A3):c.611-1G>T rs139857136 0.00002
NM_018344.6(SLC29A3):c.639C>T (p.Ala213=) rs151009829 0.00002
NM_032638.5(GATA2):c.100A>T (p.Met34Leu) rs762794939 0.00002
NM_032638.5(GATA2):c.1017+8C>T rs200848213 0.00002
NM_032638.5(GATA2):c.1018-5C>T rs769196688 0.00002
NM_032638.5(GATA2):c.1143+12C>T rs572816560 0.00002
NM_032638.5(GATA2):c.1143+14G>A rs1425713311 0.00002
NM_032638.5(GATA2):c.1143+8C>T rs555534597 0.00002
NM_032638.5(GATA2):c.1243G>A (p.Glu415Lys) rs1345163538 0.00002
NM_032638.5(GATA2):c.1332G>A (p.Pro444=) rs770768777 0.00002
NM_032638.5(GATA2):c.1370C>T (p.Thr457Met) rs139415862 0.00002
NM_032638.5(GATA2):c.1401C>T (p.Phe467=) rs534807053 0.00002
NM_032638.5(GATA2):c.142T>A (p.Phe48Ile) rs878855170 0.00002
NM_032638.5(GATA2):c.153C>T (p.His51=) rs1416891061 0.00002
NM_032638.5(GATA2):c.176A>G (p.Tyr59Cys) rs140047487 0.00002
NM_032638.5(GATA2):c.229+7A>G rs747074892 0.00002
NM_032638.5(GATA2):c.326C>T (p.Ala109Val) rs1271751829 0.00002
NM_032638.5(GATA2):c.456C>A (p.Ser152Arg) rs750384699 0.00002
NM_032638.5(GATA2):c.501C>T (p.Gly167=) rs747719270 0.00002
NM_032638.5(GATA2):c.63C>T (p.His21=) rs535362527 0.00002
NM_032638.5(GATA2):c.649C>T (p.Leu217=) rs369356562 0.00002
NM_032638.5(GATA2):c.669G>A (p.Met223Ile) rs140382420 0.00002
NM_032638.5(GATA2):c.755A>G (p.Tyr252Cys) rs1060500090 0.00002
NM_032638.5(GATA2):c.927C>T (p.Asp309=) rs750077677 0.00002
NM_032638.5(GATA2):c.933C>A (p.Thr311=) rs774280897 0.00002
NM_032638.5(GATA2):c.945G>C (p.Leu315=) rs947420881 0.00002
NM_183235.3(RAB27A):c.153+20A>G rs1370109364 0.00002
NM_183235.3(RAB27A):c.227C>T (p.Ala76Val) rs766632505 0.00002
NM_183235.3(RAB27A):c.239+1G>T rs761810607 0.00002
NM_183235.3(RAB27A):c.239G>C (p.Arg80Thr) rs765369750 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_183235.3(RAB27A):c.340A>G (p.Ile114Val) rs1218762595 0.00002
NM_183235.3(RAB27A):c.37T>G (p.Leu13Val) rs905779372 0.00002
NM_183235.3(RAB27A):c.497A>G (p.Asn166Ser) rs576324438 0.00002
NM_183235.3(RAB27A):c.621G>A (p.Thr207=) rs764546558 0.00002
NM_183235.3(RAB27A):c.94G>C (p.Gly32Arg) rs778448317 0.00002
NM_199242.3(UNC13D):c.1000G>A (p.Val334Ile) rs373019036 0.00002
NM_199242.3(UNC13D):c.1027G>T (p.Asp343Tyr) rs150442758 0.00002
NM_199242.3(UNC13D):c.1032A>G (p.Leu344=) rs779488594 0.00002
NM_199242.3(UNC13D):c.1056-8C>T rs766550767 0.00002
NM_199242.3(UNC13D):c.1075C>T (p.Arg359Cys) rs760457545 0.00002
NM_199242.3(UNC13D):c.1083C>T (p.Tyr361=) rs745408274 0.00002
NM_199242.3(UNC13D):c.1218C>G (p.Gly406=) rs766381273 0.00002
NM_199242.3(UNC13D):c.1301T>C (p.Val434Ala) rs752360915 0.00002
NM_199242.3(UNC13D):c.1369C>A (p.Leu457Met) rs556930184 0.00002
NM_199242.3(UNC13D):c.1382C>T (p.Ala461Val) rs144078744 0.00002
NM_199242.3(UNC13D):c.1544+6C>G rs773025071 0.00002
NM_199242.3(UNC13D):c.1580G>A (p.Arg527Gln) rs775555882 0.00002
NM_199242.3(UNC13D):c.1616A>G (p.Asp539Gly) rs780794721 0.00002
NM_199242.3(UNC13D):c.1625C>T (p.Thr542Met) rs766409638 0.00002
NM_199242.3(UNC13D):c.1709G>A (p.Arg570His) rs774248632 0.00002
NM_199242.3(UNC13D):c.1777A>G (p.Ile593Val) rs776985159 0.00002
NM_199242.3(UNC13D):c.1782C>G (p.Pro594=) rs772047605 0.00002
NM_199242.3(UNC13D):c.1829G>A (p.Arg610His) rs749184121 0.00002
NM_199242.3(UNC13D):c.1890G>A (p.Ala630=) rs753021453 0.00002
NM_199242.3(UNC13D):c.1933C>T (p.Arg645Trp) rs768266670 0.00002
NM_199242.3(UNC13D):c.2068G>A (p.Asp690Asn) rs550419919 0.00002
NM_199242.3(UNC13D):c.2193G>C (p.Val731=) rs1001766122 0.00002
NM_199242.3(UNC13D):c.2298+3A>G rs773604668 0.00002
NM_199242.3(UNC13D):c.2299T>C (p.Leu767=) rs371685442 0.00002
NM_199242.3(UNC13D):c.2507A>T (p.Gln836Leu) rs747265361 0.00002
NM_199242.3(UNC13D):c.261+9G>A rs754902598 0.00002
NM_199242.3(UNC13D):c.2709+16C>T rs747021679 0.00002
NM_199242.3(UNC13D):c.271G>A (p.Val91Met) rs374308904 0.00002
NM_199242.3(UNC13D):c.2799C>T (p.Ser933=) rs752372722 0.00002
NM_199242.3(UNC13D):c.2817C>T (p.Pro939=) rs565976477 0.00002
NM_199242.3(UNC13D):c.2839G>A (p.Asp947Asn) rs778921171 0.00002
NM_199242.3(UNC13D):c.2954+13C>T rs772473891 0.00002
NM_199242.3(UNC13D):c.2954+14G>A rs1194495416 0.00002
NM_199242.3(UNC13D):c.2954+3G>T rs924698827 0.00002
NM_199242.3(UNC13D):c.3006C>T (p.Thr1002=) rs773217124 0.00002
NM_199242.3(UNC13D):c.3022A>C (p.Thr1008Pro) rs753816739 0.00002
NM_199242.3(UNC13D):c.3122G>A (p.Arg1041His) rs374478310 0.00002
NM_199242.3(UNC13D):c.3208T>C (p.Phe1070Leu) rs769221887 0.00002
NM_199242.3(UNC13D):c.322-2A>T rs752651197 0.00002
NM_199242.3(UNC13D):c.3229_3235del (p.Arg1077fs) rs766652119 0.00002
NM_199242.3(UNC13D):c.515G>A (p.Arg172His) rs769659694 0.00002
NM_199242.3(UNC13D):c.551G>A (p.Trp184Ter) rs754292065 0.00002
NM_199242.3(UNC13D):c.555C>T (p.Asp185=) rs756118878 0.00002
NM_199242.3(UNC13D):c.628G>C (p.Val210Leu) rs917497461 0.00002
NM_199242.3(UNC13D):c.701G>A (p.Arg234Gln) rs560990369 0.00002
NM_199242.3(UNC13D):c.721G>A (p.Asp241Asn) rs765792484 0.00002
NM_199242.3(UNC13D):c.735C>T (p.Asn245=) rs756659696 0.00002
NM_199242.3(UNC13D):c.754-8C>T rs201406035 0.00002
NM_199242.3(UNC13D):c.755A>T (p.Asp252Val) rs1131691264 0.00002
NM_199242.3(UNC13D):c.856C>T (p.Arg286Trp) rs142618705 0.00002
NM_199242.3(UNC13D):c.859-13G>C rs989852597 0.00002
NM_199242.3(UNC13D):c.903C>A (p.His301Gln) rs544643767 0.00002
NM_199242.3(UNC13D):c.933C>T (p.His311=) rs149650660 0.00002
NM_000081.4(LYST):c.10110T>C (p.Ala3370=) rs886038227 0.00001
NM_000081.4(LYST):c.10622A>G (p.Tyr3541Cys) rs1369698547 0.00001
NM_000081.4(LYST):c.10976G>T (p.Ser3659Ile) rs1659445104 0.00001
NM_000081.4(LYST):c.11085C>T (p.Leu3695=) rs767062870 0.00001
NM_000081.4(LYST):c.11116T>A (p.Cys3706Ser) rs1481260242 0.00001
NM_000081.4(LYST):c.1176A>G (p.Ser392=) rs764088101 0.00001
NM_000081.4(LYST):c.1507C>T (p.Arg503Ter) rs1558282769 0.00001
NM_000081.4(LYST):c.159A>G (p.Leu53=) rs373917160 0.00001
NM_000081.4(LYST):c.1637G>A (p.Arg546Gln) rs751609899 0.00001
NM_000081.4(LYST):c.1848C>T (p.Asn616=) rs376259384 0.00001
NM_000081.4(LYST):c.2181G>A (p.Gln727=) rs749804968 0.00001
NM_000081.4(LYST):c.2330A>G (p.Tyr777Cys) rs367688184 0.00001
NM_000081.4(LYST):c.2724C>T (p.Cys908=) rs201440611 0.00001
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu) rs539146732 0.00001
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr) rs376496670 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000081.4(LYST):c.3702C>A (p.Thr1234=) rs151187564 0.00001
NM_000081.4(LYST):c.3792G>A (p.Gly1264=) rs777580667 0.00001
NM_000081.4(LYST):c.387G>A (p.Leu129=) rs749353041 0.00001
NM_000081.4(LYST):c.4135A>G (p.Ile1379Val) rs1178179147 0.00001
NM_000081.4(LYST):c.4266C>A (p.Ala1422=) rs764207947 0.00001
NM_000081.4(LYST):c.440G>A (p.Arg147His) rs759868763 0.00001
NM_000081.4(LYST):c.4428C>T (p.Ser1476=) rs749585509 0.00001
NM_000081.4(LYST):c.463G>C (p.Val155Leu) rs769942827 0.00001
NM_000081.4(LYST):c.4998C>A (p.Asp1666Glu) rs377563551 0.00001
NM_000081.4(LYST):c.5001G>A (p.Leu1667=) rs748942618 0.00001
NM_000081.4(LYST):c.5037T>C (p.Gly1679=) rs753293453 0.00001
NM_000081.4(LYST):c.5578A>G (p.Met1860Val) rs368738466 0.00001
NM_000081.4(LYST):c.5620T>A (p.Phe1874Ile) rs757494655 0.00001
NM_000081.4(LYST):c.5784+2C>T rs763156837 0.00001
NM_000081.4(LYST):c.5997C>T (p.Val1999=) rs778100106 0.00001
NM_000081.4(LYST):c.6216A>G (p.Val2072=) rs371248013 0.00001
NM_000081.4(LYST):c.6225A>G (p.Pro2075=) rs761762580 0.00001
NM_000081.4(LYST):c.6736C>T (p.Leu2246Phe) rs758716853 0.00001
NM_000081.4(LYST):c.6882-7G>T rs771074733 0.00001
NM_000081.4(LYST):c.6931C>T (p.Leu2311=) rs764843145 0.00001
NM_000081.4(LYST):c.7340C>T (p.Ala2447Val) rs766272501 0.00001
NM_000081.4(LYST):c.7628-8G>A rs1369714185 0.00001
NM_000081.4(LYST):c.7761A>G (p.Gln2587=) rs139917441 0.00001
NM_000081.4(LYST):c.7780+2C>T rs760108842 0.00001
NM_000081.4(LYST):c.7938C>T (p.Leu2646=) rs184411941 0.00001
NM_000081.4(LYST):c.8143G>A (p.Val2715Ile) rs202010795 0.00001
NM_000081.4(LYST):c.8535+9A>G rs781747413 0.00001
NM_000081.4(LYST):c.8612+10T>G rs1363909678 0.00001
NM_000081.4(LYST):c.8922C>T (p.Leu2974=) rs1388855975 0.00001
NM_000081.4(LYST):c.9045-4A>G rs769310836 0.00001
NM_000081.4(LYST):c.9223G>A (p.Val3075Ile) rs764879928 0.00001
NM_000081.4(LYST):c.9231G>A (p.Lys3077=) rs1328019463 0.00001
NM_000081.4(LYST):c.925C>A (p.Arg309=) rs370022675 0.00001
NM_000081.4(LYST):c.9720C>T (p.Ser3240=) rs773882115 0.00001
NM_000081.4(LYST):c.9795T>C (p.Phe3265=) rs1433367318 0.00001
NM_000081.4(LYST):c.9926-12C>T rs762744969 0.00001
NM_000081.4(LYST):c.9958C>T (p.Arg3320Trp) rs761351181 0.00001
NM_000271.5(NPC1):c.1007G>A (p.Arg336Lys) rs2058955195 0.00001
NM_000271.5(NPC1):c.1028G>C (p.Gly343Ala) rs1444308532 0.00001
NM_000271.5(NPC1):c.1038C>T (p.Cys346=) rs142119577 0.00001
NM_000271.5(NPC1):c.1039G>A (p.Val347Ile) rs376741451 0.00001
NM_000271.5(NPC1):c.1068C>T (p.Phe356=) rs752521740 0.00001
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232 0.00001
NM_000271.5(NPC1):c.1077C>T (p.Val359=) rs759389979 0.00001
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val) rs774588125 0.00001
NM_000271.5(NPC1):c.1095G>A (p.Ser365=) rs150597260 0.00001
NM_000271.5(NPC1):c.1098A>G (p.Ser366=) rs1006770318 0.00001
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala) rs120074134 0.00001
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe) rs1435915496 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
NM_000271.5(NPC1):c.1214C>T (p.Thr405Met) rs764364312 0.00001
NM_000271.5(NPC1):c.1215G>A (p.Thr405=) rs763166048 0.00001
NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter) rs775629081 0.00001
NM_000271.5(NPC1):c.1233G>A (p.Arg411=) rs777041778 0.00001
NM_000271.5(NPC1):c.1257T>G (p.Ile419Met) rs1452719623 0.00001
NM_000271.5(NPC1):c.126C>T (p.Cys42=) rs149612530 0.00001
NM_000271.5(NPC1):c.1270C>T (p.Pro424Ser) rs143797098 0.00001
NM_000271.5(NPC1):c.1302G>A (p.Pro434=) rs756074494 0.00001
NM_000271.5(NPC1):c.1350C>T (p.Ile450=) rs368945671 0.00001
NM_000271.5(NPC1):c.1356C>T (p.Asn452=) rs758508630 0.00001
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=) rs779065920 0.00001
NM_000271.5(NPC1):c.1386G>A (p.Val462=) rs1233723809 0.00001
NM_000271.5(NPC1):c.1402T>G (p.Cys468Gly) rs1555636685 0.00001
NM_000271.5(NPC1):c.1412C>T (p.Pro471Leu) rs201226297 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.1452G>C (p.Val484=) rs1191599177 0.00001
NM_000271.5(NPC1):c.1499G>A (p.Gly500Glu) rs748246747 0.00001
NM_000271.5(NPC1):c.1547G>A (p.Cys516Tyr) rs751951695 0.00001
NM_000271.5(NPC1):c.1569G>A (p.Leu523=) rs1376770067 0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.1649A>G (p.Tyr550Cys) rs758823922 0.00001
NM_000271.5(NPC1):c.168T>C (p.Tyr56=) rs368182150 0.00001
NM_000271.5(NPC1):c.1723G>C (p.Glu575Gln) rs767236379 0.00001
NM_000271.5(NPC1):c.1729C>T (p.Leu577Phe) rs751586141 0.00001
NM_000271.5(NPC1):c.1758-10T>C rs750073255 0.00001
NM_000271.5(NPC1):c.1764T>C (p.Ile588=) rs1380492295 0.00001
NM_000271.5(NPC1):c.1793A>G (p.Asn598Ser) rs201236716 0.00001
NM_000271.5(NPC1):c.1801A>G (p.Ile601Val) rs1443429857 0.00001
NM_000271.5(NPC1):c.1870G>A (p.Val624Ile) rs76615690 0.00001
NM_000271.5(NPC1):c.1875A>G (p.Val625=) rs769227666 0.00001
NM_000271.5(NPC1):c.1923C>T (p.His641=) rs758222159 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.1947+9G>C rs56104765 0.00001
NM_000271.5(NPC1):c.1948-12C>T rs779932903 0.00001
NM_000271.5(NPC1):c.1956G>A (p.Ser652=) rs759777593 0.00001
NM_000271.5(NPC1):c.1962C>T (p.Val654=) rs1374257305 0.00001
NM_000271.5(NPC1):c.1974C>T (p.Ile658=) rs760323508 0.00001
NM_000271.5(NPC1):c.1976C>T (p.Ala659Val) rs140786703 0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990 0.00001
NM_000271.5(NPC1):c.1998C>T (p.Ser666=) rs373250439 0.00001
NM_000271.5(NPC1):c.204T>G (p.Phe68Leu) rs778177842 0.00001
NM_000271.5(NPC1):c.2055T>C (p.Ile685=) rs199856145 0.00001
NM_000271.5(NPC1):c.2083C>G (p.Leu695Val) rs370323921 0.00001
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser) rs200291759 0.00001
NM_000271.5(NPC1):c.210T>C (p.Asn70=) rs1157753581 0.00001
NM_000271.5(NPC1):c.2140C>T (p.Arg714Cys) rs770762664 0.00001
NM_000271.5(NPC1):c.2148A>G (p.Gln716=) rs774299911 0.00001
NM_000271.5(NPC1):c.2158C>T (p.Leu720=) rs1339959181 0.00001
NM_000271.5(NPC1):c.2172G>T (p.Leu724=) rs780387245 0.00001
NM_000271.5(NPC1):c.2178G>A (p.Arg726=) rs770324592 0.00001
NM_000271.5(NPC1):c.2193G>A (p.Val731=) rs1163772145 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000271.5(NPC1):c.222T>C (p.Cys74=) rs779329099 0.00001
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu) rs752386083 0.00001
NM_000271.5(NPC1):c.2246-4A>G rs1054383421 0.00001
NM_000271.5(NPC1):c.2246-8C>T rs1400018382 0.00001
NM_000271.5(NPC1):c.2251T>C (p.Leu751=) rs766114585 0.00001
NM_000271.5(NPC1):c.2269G>A (p.Val757Met) rs777156729 0.00001
NM_000271.5(NPC1):c.2286C>T (p.Leu762=) rs372431637 0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983 0.00001
NM_000271.5(NPC1):c.2304C>T (p.Val768=) rs183935795 0.00001
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) rs80358253 0.00001
NM_000271.5(NPC1):c.2331C>G (p.Thr777=) rs2058711076 0.00001
NM_000271.5(NPC1):c.2369A>G (p.Gln790Arg) rs761014306 0.00001
NM_000271.5(NPC1):c.2370A>G (p.Gln790=) rs1196248392 0.00001
NM_000271.5(NPC1):c.2373+14A>G rs771523995 0.00001
NM_000271.5(NPC1):c.2373+8G>A rs772364989 0.00001
NM_000271.5(NPC1):c.2374-13T>C rs773375065 0.00001
NM_000271.5(NPC1):c.2472C>G (p.Ser824=) rs1567951608 0.00001
NM_000271.5(NPC1):c.2490A>G (p.Leu830=) rs1356141580 0.00001
NM_000271.5(NPC1):c.2508A>G (p.Pro836=) rs1468600723 0.00001
NM_000271.5(NPC1):c.2510T>C (p.Ile837Thr) rs758474760 0.00001
NM_000271.5(NPC1):c.2511T>C (p.Ile837=) rs369793282 0.00001
NM_000271.5(NPC1):c.2514+7G>A rs764548800 0.00001
NM_000271.5(NPC1):c.2514+9T>C rs1466320929 0.00001
NM_000271.5(NPC1):c.2515-10G>T rs1410751528 0.00001
NM_000271.5(NPC1):c.2515-16T>G rs913507294 0.00001
NM_000271.5(NPC1):c.2521A>G (p.Ile841Val) rs757285562 0.00001
NM_000271.5(NPC1):c.2533G>T (p.Val845Phe) rs562253150 0.00001
NM_000271.5(NPC1):c.255C>G (p.Asp85Glu) rs2059212616 0.00001
NM_000271.5(NPC1):c.2595G>A (p.Ser865=) rs775373435 0.00001
NM_000271.5(NPC1):c.2596A>G (p.Met866Val) rs771088243 0.00001
NM_000271.5(NPC1):c.2604+8G>C rs1258459284 0.00001
NM_000271.5(NPC1):c.2619G>A (p.Val873=) rs2058689890 0.00001
NM_000271.5(NPC1):c.2634C>T (p.Ser878=) rs2058689667 0.00001
NM_000271.5(NPC1):c.2635A>G (p.Ile879Val) rs904277386 0.00001
NM_000271.5(NPC1):c.2664T>C (p.Pro888=) rs780680963 0.00001
NM_000271.5(NPC1):c.2700T>C (p.Thr900=) rs752492658 0.00001
NM_000271.5(NPC1):c.271C>T (p.Leu91=) rs773809600 0.00001
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208 0.00001
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr) rs564631426 0.00001
NM_000271.5(NPC1):c.2778G>A (p.Ala926=) rs754772486 0.00001
NM_000271.5(NPC1):c.2781G>A (p.Ala927=) rs766328496 0.00001
NM_000271.5(NPC1):c.2795+9C>A rs770100738 0.00001
NM_000271.5(NPC1):c.2796-8C>T rs2058681339 0.00001
NM_000271.5(NPC1):c.2796-9C>T rs1196732533 0.00001
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter) rs370721218 0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714 0.00001
NM_000271.5(NPC1):c.2802A>C (p.Arg934=) rs771234472 0.00001
NM_000271.5(NPC1):c.2811C>T (p.Phe937=) rs747545090 0.00001
NM_000271.5(NPC1):c.2817C>G (p.Pro939=) rs747681496 0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972 0.00001
NM_000271.5(NPC1):c.2829C>T (p.Ile943=) rs1200552626 0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096 0.00001
NM_000271.5(NPC1):c.2841C>T (p.Phe947=) rs755936884 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978 0.00001
NM_000271.5(NPC1):c.2850G>A (p.Val950=) rs548644873 0.00001
NM_000271.5(NPC1):c.2865T>C (p.Ser955=) rs904728250 0.00001
NM_000271.5(NPC1):c.288-7C>T rs1243567350 0.00001
NM_000271.5(NPC1):c.28C>T (p.Leu10Phe) rs1272422974 0.00001
NM_000271.5(NPC1):c.2912-12T>C rs774683240 0.00001
NM_000271.5(NPC1):c.2912-13A>G rs762407606 0.00001
NM_000271.5(NPC1):c.2922T>G (p.Pro974=) rs1312623801 0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108 0.00001
NM_000271.5(NPC1):c.2933G>A (p.Arg978His) rs752728865 0.00001
NM_000271.5(NPC1):c.2942C>T (p.Pro981Leu) rs1567948691 0.00001
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser) rs1364834942 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000271.5(NPC1):c.2972del (p.Gln991fs) rs1567948623 0.00001
NM_000271.5(NPC1):c.3027C>G (p.Pro1009=) rs759291033 0.00001
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys) rs548191894 0.00001
NM_000271.5(NPC1):c.3039A>G (p.Lys1013=) rs773268548 0.00001
NM_000271.5(NPC1):c.3041+10G>A rs965937353 0.00001
NM_000271.5(NPC1):c.3042-13A>T rs1337981339 0.00001
NM_000271.5(NPC1):c.3052G>A (p.Ala1018Thr) rs146666146 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000271.5(NPC1):c.3066A>C (p.Ala1022=) rs1459967257 0.00001
NM_000271.5(NPC1):c.3099C>T (p.Val1033=) rs753304482 0.00001
NM_000271.5(NPC1):c.30C>T (p.Leu10=) rs1432179735 0.00001
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3108G>A (p.Thr1036=) rs530175301 0.00001
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met) rs767343173 0.00001
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr) rs80358258 0.00001
NM_000271.5(NPC1):c.3162T>G (p.Ala1054=) rs1436741694 0.00001
NM_000271.5(NPC1):c.3163C>A (p.Leu1055Met) rs776593644 0.00001
NM_000271.5(NPC1):c.3178C>T (p.Leu1060Phe) rs1285316145 0.00001
NM_000271.5(NPC1):c.318C>T (p.Asn106=) rs763618439 0.00001
NM_000271.5(NPC1):c.3196A>G (p.Thr1066Ala) rs747903100 0.00001
NM_000271.5(NPC1):c.3197C>A (p.Thr1066Asn) rs772622214 0.00001
NM_000271.5(NPC1):c.3216C>T (p.Asn1072=) rs779463609 0.00001
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln) rs534280005 0.00001
NM_000271.5(NPC1):c.3245+10G>A rs375928251 0.00001
NM_000271.5(NPC1):c.324T>C (p.Phe108=) rs138795996 0.00001
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353 0.00001
NM_000271.5(NPC1):c.3264C>T (p.Tyr1088=) rs768992863 0.00001
NM_000271.5(NPC1):c.3273C>T (p.Tyr1091=) rs1598937493 0.00001
NM_000271.5(NPC1):c.3294T>C (p.Thr1098=) rs780795762 0.00001
NM_000271.5(NPC1):c.3309dup (p.Val1104fs) rs1057517194 0.00001
NM_000271.5(NPC1):c.3312G>A (p.Val1104=) rs746476066 0.00001
NM_000271.5(NPC1):c.3325A>G (p.Ile1109Val) rs368642053 0.00001
NM_000271.5(NPC1):c.3328T>C (p.Phe1110Leu) rs753725948 0.00001
NM_000271.5(NPC1):c.3391A>G (p.Ile1131Val) rs1462436957 0.00001
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr) rs1046046139 0.00001
NM_000271.5(NPC1):c.3422T>G (p.Val1141Gly) rs144725473 0.00001
NM_000271.5(NPC1):c.3432C>G (p.Leu1144=) rs191526202 0.00001
NM_000271.5(NPC1):c.3477+20_3477+21del rs754658312 0.00001
NM_000271.5(NPC1):c.3477+2T>C rs772898831 0.00001
NM_000271.5(NPC1):c.3477+7C>T rs1455802023 0.00001
NM_000271.5(NPC1):c.3478-7A>C rs767148121 0.00001
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167 0.00001
NM_000271.5(NPC1):c.3521C>T (p.Ala1174Val) rs780175800 0.00001
NM_000271.5(NPC1):c.3522G>A (p.Ala1174=) rs769887943 0.00001
NM_000271.5(NPC1):c.3549C>T (p.Arg1183=) rs766831960 0.00001
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly) rs369098773 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000271.5(NPC1):c.3576C>G (p.Ala1192=) rs1393270334 0.00001
NM_000271.5(NPC1):c.3577C>T (p.His1193Tyr) rs375309094 0.00001
NM_000271.5(NPC1):c.3591+1G>A rs786200877 0.00001
NM_000271.5(NPC1):c.3591+4del rs794727371 0.00001
NM_000271.5(NPC1):c.3592-15T>C rs746006854 0.00001
NM_000271.5(NPC1):c.3592-9_3592-8del rs1376430791 0.00001
NM_000271.5(NPC1):c.3594G>A (p.Val1198=) rs1440442725 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000271.5(NPC1):c.3620T>C (p.Phe1207Ser) rs764991360 0.00001
NM_000271.5(NPC1):c.3630T>G (p.Ile1210Met) rs1178040336 0.00001
NM_000271.5(NPC1):c.3639G>A (p.Leu1213=) rs120074131 0.00001
NM_000271.5(NPC1):c.3694A>G (p.Met1232Val) rs1161321094 0.00001
NM_000271.5(NPC1):c.372A>T (p.Thr124=) rs748125983 0.00001
NM_000271.5(NPC1):c.3735T>C (p.Pro1245=) rs1206106041 0.00001
NM_000271.5(NPC1):c.3744C>T (p.Leu1248=) rs1449318024 0.00001
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261 0.00001
NM_000271.5(NPC1):c.3760T>A (p.Ser1254Thr) rs986146604 0.00001
NM_000271.5(NPC1):c.3763G>A (p.Val1255Ile) rs755597503 0.00001
NM_000271.5(NPC1):c.3804A>G (p.Lys1268=) rs1280300361 0.00001
NM_000271.5(NPC1):c.3814C>T (p.Arg1272Cys) rs200264267 0.00001
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=) rs375797728 0.00001
NM_000271.5(NPC1):c.3820C>T (p.Arg1274Trp) rs544089597 0.00001
NM_000271.5(NPC1):c.3828A>G (p.Leu1276=) rs769465763 0.00001
NM_000271.5(NPC1):c.3830A>G (p.Asn1277Ser) rs745328444 0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000271.5(NPC1):c.411G>A (p.Thr137=) rs756405444 0.00001
NM_000271.5(NPC1):c.441C>T (p.Tyr147=) rs1388736731 0.00001
NM_000271.5(NPC1):c.444C>T (p.Val148=) rs899764342 0.00001
NM_000271.5(NPC1):c.463+15A>C rs1000226677 0.00001
NM_000271.5(NPC1):c.464-9C>T rs746194096 0.00001
NM_000271.5(NPC1):c.510C>G (p.Asp170Glu) rs887908568 0.00001
NM_000271.5(NPC1):c.513G>A (p.Lys171=) rs754849769 0.00001
NM_000271.5(NPC1):c.515C>T (p.Ala172Val) rs753654470 0.00001
NM_000271.5(NPC1):c.51A>T (p.Pro17=) rs1175682189 0.00001
NM_000271.5(NPC1):c.522A>G (p.Gly174=) rs201249935 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000271.5(NPC1):c.57+7G>A rs886042901 0.00001
NM_000271.5(NPC1):c.58-4G>A rs767683969 0.00001
NM_000271.5(NPC1):c.586A>G (p.Lys196Glu) rs754653682 0.00001
NM_000271.5(NPC1):c.591C>T (p.Asp197=) rs1435325792 0.00001
NM_000271.5(NPC1):c.631+7A>G rs886044570 0.00001
NM_000271.5(NPC1):c.632-7T>C rs781044030 0.00001
NM_000271.5(NPC1):c.663C>T (p.Asn221=) rs2059022151 0.00001
NM_000271.5(NPC1):c.684C>T (p.Asp228=) rs558452690 0.00001
NM_000271.5(NPC1):c.690T>G (p.Ser230=) rs768304872 0.00001
NM_000271.5(NPC1):c.699G>A (p.Glu233=) rs769468514 0.00001
NM_000271.5(NPC1):c.72C>T (p.Ser24=) rs764560779 0.00001
NM_000271.5(NPC1):c.743G>T (p.Gly248Val) rs1230538609 0.00001
NM_000271.5(NPC1):c.744C>T (p.Gly248=) rs766556966 0.00001
NM_000271.5(NPC1):c.749A>C (p.Lys250Thr) rs536360132 0.00001
NM_000271.5(NPC1):c.756G>A (p.Gln252=) rs768008295 0.00001
NM_000271.5(NPC1):c.763C>T (p.Pro255Ser) rs373815982 0.00001
NM_000271.5(NPC1):c.783G>A (p.Thr261=) rs770731602 0.00001
NM_000271.5(NPC1):c.798C>T (p.Asp266=) rs199887728 0.00001
NM_000271.5(NPC1):c.822C>T (p.Ile274=) rs1355151756 0.00001
NM_000271.5(NPC1):c.834G>A (p.Ala278=) rs146105340 0.00001
NM_000271.5(NPC1):c.83A>G (p.Tyr28Cys) rs1232191827 0.00001
NM_000271.5(NPC1):c.870G>A (p.Val290=) rs149559712 0.00001
NM_000271.5(NPC1):c.881+6C>T rs1180731498 0.00001
NM_000271.5(NPC1):c.882-7T>C rs1422381609 0.00001
NM_000271.5(NPC1):c.887G>A (p.Arg296Gln) rs774386583 0.00001
NM_000271.5(NPC1):c.888G>A (p.Arg296=) rs369775984 0.00001
NM_000271.5(NPC1):c.915C>T (p.Ile305=) rs1452021800 0.00001
NM_000271.5(NPC1):c.945A>G (p.Ala315=) rs2058965361 0.00001
NM_000271.5(NPC1):c.956-11C>T rs780491021 0.00001
NM_000271.5(NPC1):c.956-1G>A rs756853895 0.00001
NM_000271.5(NPC1):c.956-2A>G rs1473909084 0.00001
NM_000271.5(NPC1):c.97A>T (p.Ile33Phe) rs1244447626 0.00001
NM_000271.5(NPC1):c.990A>G (p.Ala330=) rs772406728 0.00001
NM_000543.5(SMPD1):c.1017C>T (p.Ser339=) rs1040248510 0.00001
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu) rs772473982 0.00001
NM_000543.5(SMPD1):c.1078C>T (p.Leu360=) rs772788648 0.00001
NM_000543.5(SMPD1):c.1128T>C (p.Gly376=) rs745317640 0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1194C>A (p.Ser398=) rs967970847 0.00001
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg) rs1206562843 0.00001
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) rs755160837 0.00001
NM_000543.5(SMPD1):c.1263+10A>G rs1237766501 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.126G>A (p.Ala42=) rs571806745 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg) rs779528546 0.00001
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp) rs398123475 0.00001
NM_000543.5(SMPD1):c.1341-1G>A rs1057516854 0.00001
NM_000543.5(SMPD1):c.1341-9T>C rs528939343 0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys) rs747143343 0.00001
NM_000543.5(SMPD1):c.1360G>A (p.Ala454Thr) rs144624998 0.00001
NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val) rs1402734026 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.1473C>T (p.Ile491=) rs554647710 0.00001
NM_000543.5(SMPD1):c.1476C>G (p.Gly492=) rs1262156065 0.00001
NM_000543.5(SMPD1):c.1494T>G (p.Arg498=) rs1382113966 0.00001
NM_000543.5(SMPD1):c.1527C>T (p.Ser509=) rs944330326 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1620G>A (p.Arg540=) rs778746534 0.00001
NM_000543.5(SMPD1):c.1637_1639dup (p.Gly546_Leu547insArg) rs776759986 0.00001
NM_000543.5(SMPD1):c.1653G>A (p.Leu551=) rs377371222 0.00001
NM_000543.5(SMPD1):c.1659C>T (p.Thr553=) rs746058509 0.00001
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr) rs758811926 0.00001
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs) rs759389193 0.00001
NM_000543.5(SMPD1):c.1681C>T (p.Arg561Cys) rs774190691 0.00001
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=) rs369787650 0.00001
NM_000543.5(SMPD1):c.1725C>T (p.Leu575=) rs780285591 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119 0.00001
NM_000543.5(SMPD1):c.1746C>T (p.Pro582=) rs781756741 0.00001
NM_000543.5(SMPD1):c.1747T>G (p.Ser583Ala) rs748635475 0.00001
NM_000543.5(SMPD1):c.1782T>C (p.Thr594=) rs200974033 0.00001
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr) rs750433951 0.00001
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys) rs763099671 0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) rs370129081 0.00001
NM_000543.5(SMPD1):c.1836G>T (p.Leu612=) rs1413475417 0.00001
NM_000543.5(SMPD1):c.1885C>T (p.Leu629=) rs776370511 0.00001
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr) rs375224040 0.00001
NM_000543.5(SMPD1):c.229G>A (p.Val77Met) rs560531338 0.00001
NM_000543.5(SMPD1):c.236G>A (p.Arg79Gln) rs201647015 0.00001
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser) rs373475928 0.00001
NM_000543.5(SMPD1):c.319-1G>A rs1352986086 0.00001
NM_000543.5(SMPD1):c.319-5T>C rs958654789 0.00001
NM_000543.5(SMPD1):c.319-7A>T rs757091200 0.00001
NM_000543.5(SMPD1):c.339C>T (p.Arg113=) rs923028036 0.00001
NM_000543.5(SMPD1):c.390T>G (p.Pro130=) rs371141815 0.00001
NM_000543.5(SMPD1):c.393C>T (p.Ala131=) rs778655099 0.00001
NM_000543.5(SMPD1):c.465A>G (p.Pro155=) rs1163540840 0.00001
NM_000543.5(SMPD1):c.480C>A (p.Gly160=) rs765073144 0.00001
NM_000543.5(SMPD1):c.491G>T (p.Gly164Val) rs1047531932 0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg) rs1847910654 0.00001
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter) rs1554934212 0.00001
NM_000543.5(SMPD1):c.561C>T (p.Pro187=) rs1020434151 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000543.5(SMPD1):c.591T>C (p.Gly197=) rs1328127205 0.00001
NM_000543.5(SMPD1):c.604C>T (p.Arg202Cys) rs749595299 0.00001
NM_000543.5(SMPD1):c.606C>T (p.Arg202=) rs779618003 0.00001
NM_000543.5(SMPD1):c.621T>C (p.Thr207=) rs1198832119 0.00001
NM_000543.5(SMPD1):c.675C>T (p.Asp225=) rs1030101180 0.00001
NM_000543.5(SMPD1):c.678A>G (p.Pro226=) rs1261935541 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.692G>A (p.Arg231Gln) rs746421946 0.00001
NM_000543.5(SMPD1):c.696T>C (p.Gly232=) rs780602613 0.00001
NM_000543.5(SMPD1):c.711C>T (p.Pro237=) rs1847926093 0.00001
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr) rs748936934 0.00001
NM_000543.5(SMPD1):c.720G>T (p.Arg240=) rs879868810 0.00001
NM_000543.5(SMPD1):c.735C>T (p.Tyr245=) rs760865854 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000543.5(SMPD1):c.753G>A (p.Lys251=) rs374458858 0.00001
NM_000543.5(SMPD1):c.759C>T (p.Asp253=) rs752000778 0.00001
NM_000543.5(SMPD1):c.75C>T (p.Ala25=) rs1312090680 0.00001
NM_000543.5(SMPD1):c.780G>A (p.Glu260=) rs770523185 0.00001
NM_000543.5(SMPD1):c.820A>G (p.Met274Val) rs763437061 0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962 0.00001
NM_000543.5(SMPD1):c.84C>T (p.Pro28=) rs577769499 0.00001
NM_000543.5(SMPD1):c.852T>C (p.His284=) rs1847936690 0.00001
NM_000543.5(SMPD1):c.873T>C (p.Arg291=) rs745502097 0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) rs120074128 0.00001
NM_000543.5(SMPD1):c.90C>A (p.Leu30=) rs748793138 0.00001
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala) rs761308217 0.00001
NM_000543.5(SMPD1):c.984C>T (p.Ser328=) rs781339776 0.00001
NM_000543.5(SMPD1):c.987C>T (p.Phe329=) rs572772760 0.00001
NM_000543.5(SMPD1):c.999C>T (p.Phe333=) rs774790917 0.00001
NM_001083116.3(PRF1):c.1018G>A (p.Asp340Asn) rs754079962 0.00001
NM_001083116.3(PRF1):c.1039C>A (p.His347Asn) rs556996220 0.00001
NM_001083116.3(PRF1):c.1047G>T (p.Leu349=) rs771218500 0.00001
NM_001083116.3(PRF1):c.1066C>T (p.Arg356Trp) rs746365230 0.00001
NM_001083116.3(PRF1):c.1069C>T (p.Arg357Trp) rs757636984 0.00001
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) rs752858869 0.00001
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs) rs771552960 0.00001
NM_001083116.3(PRF1):c.1097A>G (p.Gln366Arg) rs957245579 0.00001
NM_001083116.3(PRF1):c.1107G>A (p.Thr369=) rs145589960 0.00001
NM_001083116.3(PRF1):c.111C>T (p.Phe37=) rs547321451 0.00001
NM_001083116.3(PRF1):c.1135C>T (p.Arg379Trp) rs896384244 0.00001
NM_001083116.3(PRF1):c.1154G>A (p.Arg385Gln) rs781476866 0.00001
NM_001083116.3(PRF1):c.1199C>T (p.Ser400Leu) rs778335116 0.00001
NM_001083116.3(PRF1):c.1211C>T (p.Thr404Ile) rs779956870 0.00001
NM_001083116.3(PRF1):c.1219T>G (p.Cys407Gly) rs753751595 0.00001
NM_001083116.3(PRF1):c.1249C>T (p.Leu417=) rs765787505 0.00001
NM_001083116.3(PRF1):c.1267C>T (p.Gln423Ter) rs768953378 0.00001
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met) rs28933376 0.00001
NM_001083116.3(PRF1):c.1313A>G (p.Tyr438Cys) rs752523287 0.00001
NM_001083116.3(PRF1):c.1339G>C (p.Glu447Gln) rs145513232 0.00001
NM_001083116.3(PRF1):c.133G>A (p.Gly45Arg) rs578092914 0.00001
NM_001083116.3(PRF1):c.1356C>T (p.Thr452=) rs765858178 0.00001
NM_001083116.3(PRF1):c.1365C>A (p.Asp455Glu) rs777094015 0.00001
NM_001083116.3(PRF1):c.1424G>A (p.Gly475Glu) rs779584225 0.00001
NM_001083116.3(PRF1):c.142G>A (p.Val48Met) rs1283597219 0.00001
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro) rs764596094 0.00001
NM_001083116.3(PRF1):c.1471G>A (p.Asp491Asn) rs1324261340 0.00001
NM_001083116.3(PRF1):c.147C>T (p.Asp49=) rs761310644 0.00001
NM_001083116.3(PRF1):c.1501C>T (p.Pro501Ser) rs200589152 0.00001
NM_001083116.3(PRF1):c.1594G>A (p.Gly532Ser) rs1317922602 0.00001
NM_001083116.3(PRF1):c.1660G>A (p.Val554Met) rs768505698 0.00001
NM_001083116.3(PRF1):c.168G>A (p.Ser56=) rs376059674 0.00001
NM_001083116.3(PRF1):c.181G>A (p.Val61Met) rs1564725427 0.00001
NM_001083116.3(PRF1):c.221C>T (p.Thr74Ile) rs537165894 0.00001
NM_001083116.3(PRF1):c.227G>A (p.Cys76Tyr) rs776657932 0.00001
NM_001083116.3(PRF1):c.247G>A (p.Gly83Ser) rs773409738 0.00001
NM_001083116.3(PRF1):c.260G>A (p.Arg87His) rs557951406 0.00001
NM_001083116.3(PRF1):c.341C>T (p.Thr114Ile) rs748315806 0.00001
NM_001083116.3(PRF1):c.358G>A (p.Asp120Asn) rs1284583637 0.00001
NM_001083116.3(PRF1):c.431A>G (p.His144Arg) rs765636779 0.00001
NM_001083116.3(PRF1):c.507C>T (p.Phe169=) rs757728832 0.00001
NM_001083116.3(PRF1):c.512C>A (p.Thr171Asn) rs1455960914 0.00001
NM_001083116.3(PRF1):c.518C>T (p.Thr173Met) rs754180700 0.00001
NM_001083116.3(PRF1):c.539+13G>A rs776317619 0.00001
NM_001083116.3(PRF1):c.539+5G>A rs375408308 0.00001
NM_001083116.3(PRF1):c.559C>T (p.Pro187Ser) rs780042742 0.00001
NM_001083116.3(PRF1):c.55G>A (p.Val19Ile) rs772896823 0.00001
NM_001083116.3(PRF1):c.585G>A (p.Arg195=) rs1417377281 0.00001
NM_001083116.3(PRF1):c.604C>T (p.His202Tyr) rs200332545 0.00001
NM_001083116.3(PRF1):c.616G>A (p.Ala206Thr) rs781717112 0.00001
NM_001083116.3(PRF1):c.626A>C (p.Gln209Pro) rs146414576 0.00001
NM_001083116.3(PRF1):c.657C>T (p.Tyr219=) rs752608972 0.00001
NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser) rs776571416 0.00001
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp) rs202217604 0.00001
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) rs28933973 0.00001
NM_001083116.3(PRF1):c.687G>T (p.Leu229=) rs1477672027 0.00001
NM_001083116.3(PRF1):c.693C>T (p.Gly231=) rs777261222 0.00001
NM_001083116.3(PRF1):c.706C>T (p.Leu236Phe) rs1373180931 0.00001
NM_001083116.3(PRF1):c.742G>A (p.Gly248Arg) rs764722375 0.00001
NM_001083116.3(PRF1):c.74C>G (p.Thr25Arg) rs775934637 0.00001
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys) rs771076819 0.00001
NM_001083116.3(PRF1):c.791T>C (p.Val264Ala) rs764984064 0.00001
NM_001083116.3(PRF1):c.83G>A (p.Arg28His) rs1230053761 0.00001
NM_001083116.3(PRF1):c.853A>C (p.Lys285Gln) rs753226704 0.00001
NM_001083116.3(PRF1):c.86C>T (p.Ser29Leu) rs1342253892 0.00001
NM_001083116.3(PRF1):c.895C>T (p.Arg299Cys) rs902124045 0.00001
NM_001083116.3(PRF1):c.915C>T (p.Gly305=) rs769982593 0.00001
NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser) rs763002067 0.00001
NM_001083116.3(PRF1):c.966C>T (p.Pro322=) rs535958677 0.00001
NM_001083116.3(PRF1):c.992C>T (p.Ser331Leu) rs769364825 0.00001
NM_002435.3(MPI):c.1002C>T (p.Tyr334=) rs1244689117 0.00001
NM_002435.3(MPI):c.1038C>T (p.Thr346=) rs2064832183 0.00001
NM_002435.3(MPI):c.1174C>T (p.Arg392Cys) rs751962765 0.00001
NM_002435.3(MPI):c.123A>G (p.Ala41=) rs1280433010 0.00001
NM_002435.3(MPI):c.1242G>A (p.Leu414=) rs780975089 0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter) rs1452559752 0.00001
NM_002435.3(MPI):c.145-11T>C rs768029221 0.00001
NM_002435.3(MPI):c.145-1G>C rs1057516573 0.00001
NM_002435.3(MPI):c.16+16G>T rs751527702 0.00001
NM_002435.3(MPI):c.16+8A>G rs765308824 0.00001
NM_002435.3(MPI):c.16+9T>C rs763004015 0.00001
NM_002435.3(MPI):c.166C>T (p.Arg56Ter) rs757168691 0.00001
NM_002435.3(MPI):c.18A>G (p.Val6=) rs754249618 0.00001
NM_002435.3(MPI):c.1A>G (p.Met1Val) rs528828174 0.00001
NM_002435.3(MPI):c.216C>T (p.Ser72=) rs772501173 0.00001
NM_002435.3(MPI):c.244T>C (p.Leu82=) rs1360638113 0.00001
NM_002435.3(MPI):c.251C>G (p.Ser84Ter) rs978284448 0.00001
NM_002435.3(MPI):c.264C>T (p.Asp88=) rs529795568 0.00001
NM_002435.3(MPI):c.27T>G (p.Leu9=) rs193018589 0.00001
NM_002435.3(MPI):c.285C>T (p.Pro95=) rs1001297444 0.00001
NM_002435.3(MPI):c.488-1G>C rs759579169 0.00001
NM_002435.3(MPI):c.603G>C (p.Leu201=) rs369609955 0.00001
NM_002435.3(MPI):c.651G>A (p.Val217=) rs762051658 0.00001
NM_002435.3(MPI):c.652A>T (p.Lys218Ter) rs1057516424 0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter) rs776340315 0.00001
NM_002435.3(MPI):c.723G>A (p.Leu241=) rs965973212 0.00001
NM_002435.3(MPI):c.732G>A (p.Gln244=) rs755747644 0.00001
NM_002435.3(MPI):c.746T>C (p.Ile249Thr) rs201676072 0.00001
NM_002435.3(MPI):c.747C>T (p.Ile249=) rs778875616 0.00001
NM_002435.3(MPI):c.768C>T (p.Phe256=) rs1402063128 0.00001
NM_002435.3(MPI):c.7G>A (p.Ala3Thr) rs770421382 0.00001
NM_002435.3(MPI):c.855G>A (p.Glu285=) rs769504650 0.00001
NM_002435.3(MPI):c.963C>T (p.Asp321=) rs1256066211 0.00001
NM_002435.3(MPI):c.96C>T (p.Ala32=) rs919325069 0.00001
NM_002435.3(MPI):c.992A>C (p.Glu331Ala) rs1223295146 0.00001
NM_003664.5(AP3B1):c.1020G>A (p.Val340=) rs145787996 0.00001
NM_003664.5(AP3B1):c.1021C>T (p.Arg341Cys) rs964935640 0.00001
NM_003664.5(AP3B1):c.1034G>A (p.Ser345Asn) rs750036781 0.00001
NM_003664.5(AP3B1):c.1040+14T>A rs1355146687 0.00001
NM_003664.5(AP3B1):c.1040+20A>G rs369301345 0.00001
NM_003664.5(AP3B1):c.1041-9G>T rs1474245373 0.00001
NM_003664.5(AP3B1):c.104G>T (p.Gly35Val) rs1749668081 0.00001
NM_003664.5(AP3B1):c.1095+19C>T rs377078977 0.00001
NM_003664.5(AP3B1):c.1140T>G (p.Thr380=) rs752592265 0.00001
NM_003664.5(AP3B1):c.1159A>G (p.Thr387Ala) rs762030946 0.00001
NM_003664.5(AP3B1):c.1160C>T (p.Thr387Ile) rs1744114827 0.00001
NM_003664.5(AP3B1):c.1161A>T (p.Thr387=) rs746601394 0.00001
NM_003664.5(AP3B1):c.1176T>G (p.Ile392Met) rs758680279 0.00001
NM_003664.5(AP3B1):c.1220G>A (p.Arg407Gln) rs779980435 0.00001
NM_003664.5(AP3B1):c.1234T>C (p.Tyr412His) rs781034104 0.00001
NM_003664.5(AP3B1):c.1236T>C (p.Tyr412=) rs1468639815 0.00001
NM_003664.5(AP3B1):c.1241A>G (p.Lys414Arg) rs778910104 0.00001
NM_003664.5(AP3B1):c.1275T>C (p.Ile425=) rs1174063218 0.00001
NM_003664.5(AP3B1):c.1282A>G (p.Ile428Val) rs201185966 0.00001
NM_003664.5(AP3B1):c.1311A>T (p.Glu437Asp) rs1160297829 0.00001
NM_003664.5(AP3B1):c.1343G>A (p.Cys448Tyr) rs201877252 0.00001
NM_003664.5(AP3B1):c.1363G>A (p.Glu455Lys) rs1204234337 0.00001
NM_003664.5(AP3B1):c.1364-11A>G rs759174401 0.00001
NM_003664.5(AP3B1):c.136G>A (p.Asp46Asn) rs768641911 0.00001
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val) rs191850940 0.00001
NM_003664.5(AP3B1):c.1424A>G (p.Gln475Arg) rs1743147205 0.00001
NM_003664.5(AP3B1):c.1445A>G (p.His482Arg) rs370497154 0.00001
NM_003664.5(AP3B1):c.1467T>C (p.Ser489=) rs772984182 0.00001
NM_003664.5(AP3B1):c.1554G>C (p.Leu518Phe) rs1364578273 0.00001
NM_003664.5(AP3B1):c.1648C>G (p.Gln550Glu) rs1384754808 0.00001
NM_003664.5(AP3B1):c.1650+14G>A rs753974452 0.00001
NM_003664.5(AP3B1):c.1679A>G (p.Asn560Ser) rs776064198 0.00001
NM_003664.5(AP3B1):c.168T>A (p.Asp56Glu) rs1274489549 0.00001
NM_003664.5(AP3B1):c.1718G>A (p.Arg573His) rs1229904606 0.00001
NM_003664.5(AP3B1):c.176A>G (p.Lys59Arg) rs1300050218 0.00001
NM_003664.5(AP3B1):c.1837+10G>A rs1028071929 0.00001
NM_003664.5(AP3B1):c.1873A>T (p.Thr625Ser) rs199908785 0.00001
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=) rs774196917 0.00001
NM_003664.5(AP3B1):c.1903G>A (p.Glu635Lys) rs1381722917 0.00001
NM_003664.5(AP3B1):c.1932C>T (p.Pro644=) rs368771979 0.00001
NM_003664.5(AP3B1):c.1934A>C (p.Asp645Ala) rs1317710866 0.00001
NM_003664.5(AP3B1):c.1946G>A (p.Arg649Gln) rs748191084 0.00001
NM_003664.5(AP3B1):c.1968+9A>G rs750895201 0.00001
NM_003664.5(AP3B1):c.1972A>G (p.Lys658Glu) rs1357683810 0.00001
NM_003664.5(AP3B1):c.2007G>T (p.Glu669Asp) rs781781671 0.00001
NM_003664.5(AP3B1):c.2018A>G (p.Lys673Arg) rs763619135 0.00001
NM_003664.5(AP3B1):c.2022G>C (p.Lys674Asn) rs752440818 0.00001
NM_003664.5(AP3B1):c.205-10T>A rs1340696750 0.00001
NM_003664.5(AP3B1):c.2077+6T>C rs1432974932 0.00001
NM_003664.5(AP3B1):c.2120G>A (p.Gly707Glu) rs1244138366 0.00001
NM_003664.5(AP3B1):c.2189G>A (p.Arg730Gln) rs933653334 0.00001
NM_003664.5(AP3B1):c.2210A>G (p.Lys737Arg) rs780784576 0.00001
NM_003664.5(AP3B1):c.2250-13C>T rs774882416 0.00001
NM_003664.5(AP3B1):c.2311G>A (p.Glu771Lys) rs758351076 0.00001
NM_003664.5(AP3B1):c.2329G>A (p.Asp777Asn) rs751538828 0.00001
NM_003664.5(AP3B1):c.2384G>A (p.Arg795Lys) rs1017591456 0.00001
NM_003664.5(AP3B1):c.2482T>C (p.Ser828Pro) rs768483549 0.00001
NM_003664.5(AP3B1):c.2492T>A (p.Val831Asp) rs149948974 0.00001
NM_003664.5(AP3B1):c.2502C>G (p.Pro834=) rs747086403 0.00001
NM_003664.5(AP3B1):c.2527A>G (p.Met843Val) rs201609994 0.00001
NM_003664.5(AP3B1):c.2587C>G (p.Pro863Ala) rs1056281695 0.00001
NM_003664.5(AP3B1):c.2622T>G (p.Leu874=) rs1471301912 0.00001
NM_003664.5(AP3B1):c.2627G>A (p.Arg876Gln) rs772186737 0.00001
NM_003664.5(AP3B1):c.2651C>T (p.Ala884Val) rs1225801616 0.00001
NM_003664.5(AP3B1):c.2686G>C (p.Gly896Arg) rs1338111569 0.00001
NM_003664.5(AP3B1):c.2708A>C (p.Gln903Pro) rs1240100716 0.00001
NM_003664.5(AP3B1):c.2758G>T (p.Gly920Trp) rs759300647 0.00001
NM_003664.5(AP3B1):c.2776A>G (p.Ile926Val) rs558325834 0.00001
NM_003664.5(AP3B1):c.2799T>A (p.Phe933Leu) rs1747935041 0.00001
NM_003664.5(AP3B1):c.27T>G (p.Asn9Lys) rs1170215351 0.00001
NM_003664.5(AP3B1):c.2809+14C>A rs754832294 0.00001
NM_003664.5(AP3B1):c.2809+16C>T rs951058281 0.00001
NM_003664.5(AP3B1):c.2809+4A>G rs747843144 0.00001
NM_003664.5(AP3B1):c.2822C>A (p.Pro941His) rs1022482616 0.00001
NM_003664.5(AP3B1):c.2853T>C (p.Ile951=) rs1263221940 0.00001
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=) rs750377910 0.00001
NM_003664.5(AP3B1):c.2894+4A>G rs544214699 0.00001
NM_003664.5(AP3B1):c.2897C>T (p.Thr966Ile) rs369459422 0.00001
NM_003664.5(AP3B1):c.2922T>C (p.Asn974=) rs1256709729 0.00001
NM_003664.5(AP3B1):c.2928G>A (p.Gln976=) rs1199672973 0.00001
NM_003664.5(AP3B1):c.292G>A (p.Val98Ile) rs780459865 0.00001
NM_003664.5(AP3B1):c.2992+20T>C rs755171790 0.00001
NM_003664.5(AP3B1):c.2992+3G>A rs779017901 0.00001
NM_003664.5(AP3B1):c.3044A>G (p.Gln1015Arg) rs780143358 0.00001
NM_003664.5(AP3B1):c.306G>C (p.Leu102=) rs746322233 0.00001
NM_003664.5(AP3B1):c.3131+1G>A rs766116144 0.00001
NM_003664.5(AP3B1):c.3136G>A (p.Ala1046Thr) rs776628092 0.00001
NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile) rs535976982 0.00001
NM_003664.5(AP3B1):c.3190G>A (p.Glu1064Lys) rs767072786 0.00001
NM_003664.5(AP3B1):c.3194G>A (p.Gly1065Asp) rs761729448 0.00001
NM_003664.5(AP3B1):c.3214A>G (p.Ile1072Val) rs760735640 0.00001
NM_003664.5(AP3B1):c.3226A>G (p.Lys1076Glu) rs976542118 0.00001
NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile) rs773537846 0.00001
NM_003664.5(AP3B1):c.382A>G (p.Asn128Asp) rs758062316 0.00001
NM_003664.5(AP3B1):c.536+9A>G rs771528600 0.00001
NM_003664.5(AP3B1):c.537-7T>A rs773657171 0.00001
NM_003664.5(AP3B1):c.565A>G (p.Ile189Val) rs1393665689 0.00001
NM_003664.5(AP3B1):c.603+3A>G rs1357382699 0.00001
NM_003664.5(AP3B1):c.637G>C (p.Glu213Gln) rs1485047029 0.00001
NM_003664.5(AP3B1):c.739A>C (p.Met247Leu) rs1271543780 0.00001
NM_003664.5(AP3B1):c.813G>T (p.Lys271Asn) rs914618490 0.00001
NM_003664.5(AP3B1):c.821A>G (p.Tyr274Cys) rs989736183 0.00001
NM_003664.5(AP3B1):c.855C>T (p.Asp285=) rs79932334 0.00001
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu) rs759296897 0.00001
NM_003664.5(AP3B1):c.870G>A (p.Pro290=) rs566729844 0.00001
NM_003664.5(AP3B1):c.883C>A (p.Pro295Thr) rs570476100 0.00001
NM_003664.5(AP3B1):c.911C>T (p.Thr304Ile) rs201075567 0.00001
NM_003664.5(AP3B1):c.929G>C (p.Ser310Thr) rs778226822 0.00001
NM_003664.5(AP3B1):c.941C>T (p.Ala314Val) rs753218867 0.00001
NM_003664.5(AP3B1):c.954A>C (p.Ala318=) rs1744193916 0.00001
NM_003664.5(AP3B1):c.97G>T (p.Ala33Ser) rs773073407 0.00001
NM_003764.4(STX11):c.105C>T (p.Phe35=) rs770690889 0.00001
NM_003764.4(STX11):c.15A>G (p.Leu5=) rs202220813 0.00001
NM_003764.4(STX11):c.173T>C (p.Leu58Pro) rs431905512 0.00001
NM_003764.4(STX11):c.200A>G (p.Lys67Arg) rs759943002 0.00001
NM_003764.4(STX11):c.20A>C (p.Glu7Ala) rs201888313 0.00001
NM_003764.4(STX11):c.227T>C (p.Met76Thr) rs1317570206 0.00001
NM_003764.4(STX11):c.289G>A (p.Gly97Ser) rs1242174048 0.00001
NM_003764.4(STX11):c.319A>G (p.Met107Val) rs761875800 0.00001
NM_003764.4(STX11):c.379A>G (p.Ile127Val) rs765377730 0.00001
NM_003764.4(STX11):c.387G>A (p.Arg129=) rs1802063048 0.00001
NM_003764.4(STX11):c.399C>G (p.Asn133Lys) rs755682422 0.00001
NM_003764.4(STX11):c.408C>A (p.Thr136=) rs780418852 0.00001
NM_003764.4(STX11):c.414C>T (p.Thr138=) rs1305403021 0.00001
NM_003764.4(STX11):c.46G>A (p.Asp16Asn) rs773008640 0.00001
NM_003764.4(STX11):c.527A>G (p.Gln176Arg) rs781537476 0.00001
NM_003764.4(STX11):c.570C>T (p.Ser190=) rs148354227 0.00001
NM_003764.4(STX11):c.579G>C (p.Leu193Phe) rs760385256 0.00001
NM_003764.4(STX11):c.581T>G (p.Leu194Arg) rs371929203 0.00001
NM_003764.4(STX11):c.646C>A (p.Arg216Ser) rs151047913 0.00001
NM_003764.4(STX11):c.653A>G (p.Glu218Gly) rs764809447 0.00001
NM_003764.4(STX11):c.675C>T (p.His225=) rs756608402 0.00001
NM_003764.4(STX11):c.67G>A (p.Asp23Asn) rs766958562 0.00001
NM_003764.4(STX11):c.798C>T (p.Ala266=) rs1487649315 0.00001
NM_003764.4(STX11):c.97A>G (p.Ile33Val) rs1374801969 0.00001
NM_005045.4(RELN):c.10047G>A (p.Leu3349=) rs1182345742 0.00001
NM_005045.4(RELN):c.10060G>A (p.Ala3354Thr) rs776032694 0.00001
NM_005045.4(RELN):c.10092C>T (p.Ser3364=) rs771849243 0.00001
NM_005045.4(RELN):c.1009G>A (p.Glu337Lys) rs560655563 0.00001
NM_005045.4(RELN):c.10120A>G (p.Ile3374Val) rs752768228 0.00001
NM_005045.4(RELN):c.10123G>A (p.Ala3375Thr) rs759744782 0.00001
NM_005045.4(RELN):c.10131C>G (p.His3377Gln) rs767876947 0.00001
NM_005045.4(RELN):c.10157A>G (p.Gln3386Arg) rs1562841823 0.00001
NM_005045.4(RELN):c.10177C>T (p.Pro3393Ser) rs771869485 0.00001
NM_005045.4(RELN):c.10190G>A (p.Arg3397Gln) rs866584196 0.00001
NM_005045.4(RELN):c.10210C>T (p.Arg3404Cys) rs772932844 0.00001
NM_005045.4(RELN):c.10232A>G (p.Asn3411Ser) rs747044548 0.00001
NM_005045.4(RELN):c.10267G>A (p.Val3423Met) rs758485261 0.00001
NM_005045.4(RELN):c.10280+12T>C rs1237155367 0.00001
NM_005045.4(RELN):c.10288A>C (p.Thr3430Pro) rs1392502152 0.00001
NM_005045.4(RELN):c.10292G>A (p.Arg3431His) rs1442266027 0.00001
NM_005045.4(RELN):c.10368T>C (p.Leu3456=) rs1365324977 0.00001
NM_005045.4(RELN):c.10372C>T (p.Arg3458Ter) rs866898263 0.00001
NM_005045.4(RELN):c.1092C>T (p.Leu364=) rs142192165 0.00001
NM_005045.4(RELN):c.1182T>C (p.His394=) rs950359826 0.00001
NM_005045.4(RELN):c.1189G>A (p.Glu397Lys) rs1554402135 0.00001
NM_005045.4(RELN):c.1193G>A (p.Gly398Asp) rs766992224 0.00001
NM_005045.4(RELN):c.1252G>A (p.Glu418Lys) rs983845835 0.00001
NM_005045.4(RELN):c.1277G>A (p.Ser426Asn) rs568950079 0.00001
NM_005045.4(RELN):c.127C>A (p.His43Asn) rs369522512 0.00001
NM_005045.4(RELN):c.1290-7T>A rs369642019 0.00001
NM_005045.4(RELN):c.1290-8T>A rs780427501 0.00001
NM_005045.4(RELN):c.1290A>G (p.Gly430=) rs750986647 0.00001
NM_005045.4(RELN):c.1302G>C (p.Leu434Phe) rs1338264030 0.00001
NM_005045.4(RELN):c.1368T>C (p.Asp456=) rs769032002 0.00001
NM_005045.4(RELN):c.1374G>A (p.Glu458=) rs1378977181 0.00001
NM_005045.4(RELN):c.1389T>G (p.Thr463=) rs1448638087 0.00001
NM_005045.4(RELN):c.1408G>A (p.Gly470Ser) rs751267755 0.00001
NM_005045.4(RELN):c.1435G>T (p.Val479Leu) rs1220962945 0.00001
NM_005045.4(RELN):c.1480A>G (p.Ile494Val) rs372015884 0.00001
NM_005045.4(RELN):c.1482A>T (p.Ile494=) rs764121311 0.00001
NM_005045.4(RELN):c.1499T>C (p.Ile500Thr) rs759633233 0.00001
NM_005045.4(RELN):c.1506A>G (p.Gly502=) rs774716885 0.00001
NM_005045.4(RELN):c.1517A>T (p.His506Leu) rs375542264 0.00001
NM_005045.4(RELN):c.1532C>T (p.Thr511Ile) rs372928932 0.00001
NM_005045.4(RELN):c.1533C>T (p.Thr511=) rs746537027 0.00001
NM_005045.4(RELN):c.1588G>A (p.Glu530Lys) rs745368912 0.00001
NM_005045.4(RELN):c.1626A>G (p.Gln542=) rs1244905315 0.00001
NM_005045.4(RELN):c.163G>A (p.Val55Met) rs753619762 0.00001
NM_005045.4(RELN):c.1688T>G (p.Val563Gly) rs1832944514 0.00001
NM_005045.4(RELN):c.1692C>T (p.Leu564=) rs777459026 0.00001
NM_005045.4(RELN):c.1696T>A (p.Ser566Thr) rs200058688 0.00001
NM_005045.4(RELN):c.1759A>G (p.Asn587Asp) rs1051169273 0.00001
NM_005045.4(RELN):c.1763+3A>G rs371095209 0.00001
NM_005045.4(RELN):c.1769G>C (p.Ser590Thr) rs779939013 0.00001
NM_005045.4(RELN):c.176T>C (p.Leu59Pro) rs1466636409 0.00001
NM_005045.4(RELN):c.1796G>A (p.Arg599His) rs201371180 0.00001
NM_005045.4(RELN):c.1820A>G (p.Glu607Gly) rs1554397636 0.00001
NM_005045.4(RELN):c.1831G>A (p.Glu611Lys) rs776124922 0.00001
NM_005045.4(RELN):c.1846C>T (p.Pro616Ser) rs1460850066 0.00001
NM_005045.4(RELN):c.1848C>T (p.Pro616=) rs564122518 0.00001
NM_005045.4(RELN):c.1890T>C (p.Ser630=) rs1584377776 0.00001
NM_005045.4(RELN):c.1892G>A (p.Gly631Glu) rs398124190 0.00001
NM_005045.4(RELN):c.1893-14T>C rs1199405213 0.00001
NM_005045.4(RELN):c.1893-3C>T rs1214133012 0.00001
NM_005045.4(RELN):c.1906A>G (p.Thr636Ala) rs756344611 0.00001
NM_005045.4(RELN):c.1909A>G (p.Ile637Val) rs530120957 0.00001
NM_005045.4(RELN):c.1913C>T (p.Pro638Leu) rs114993407 0.00001
NM_005045.4(RELN):c.1924G>A (p.Ala642Thr) rs201735865 0.00001
NM_005045.4(RELN):c.1952G>A (p.Arg651His) rs144078760 0.00001
NM_005045.4(RELN):c.1970C>T (p.Pro657Leu) rs1325531129 0.00001
NM_005045.4(RELN):c.1975C>A (p.Leu659Ile) rs199851352 0.00001
NM_005045.4(RELN):c.2019A>G (p.Ser673=) rs746420791 0.00001
NM_005045.4(RELN):c.2053A>G (p.Thr685Ala) rs779358126 0.00001
NM_005045.4(RELN):c.2070-11A>G rs536798505 0.00001
NM_005045.4(RELN):c.2070-7C>G rs377082782 0.00001
NM_005045.4(RELN):c.214C>G (p.Gln72Glu) rs775097828 0.00001
NM_005045.4(RELN):c.2171A>G (p.His724Arg) rs746516208 0.00001
NM_005045.4(RELN):c.2211T>C (p.Gly737=) rs1201821080 0.00001
NM_005045.4(RELN):c.226+4G>C rs749125854 0.00001
NM_005045.4(RELN):c.226+7A>T rs895561494 0.00001
NM_005045.4(RELN):c.22C>G (p.Arg8Gly) rs1470522542 0.00001
NM_005045.4(RELN):c.2313G>T (p.Gln771His) rs777581847 0.00001
NM_005045.4(RELN):c.232A>G (p.Ile78Val) rs768499951 0.00001
NM_005045.4(RELN):c.2351C>T (p.Thr784Met) rs144235468 0.00001
NM_005045.4(RELN):c.2361C>T (p.Ala787=) rs1832560651 0.00001
NM_005045.4(RELN):c.2425C>T (p.Leu809Phe) rs1452060313 0.00001
NM_005045.4(RELN):c.2434C>G (p.His812Asp) rs3025968 0.00001
NM_005045.4(RELN):c.2442A>G (p.Ser814=) rs759128344 0.00001
NM_005045.4(RELN):c.2465+5G>T rs772717691 0.00001
NM_005045.4(RELN):c.2475C>T (p.Ser825=) rs757750180 0.00001
NM_005045.4(RELN):c.2537A>G (p.His846Arg) rs751135625 0.00001
NM_005045.4(RELN):c.255C>T (p.Asp85=) rs745932066 0.00001
NM_005045.4(RELN):c.2580C>T (p.Ile860=) rs149804405 0.00001
NM_005045.4(RELN):c.2586A>G (p.Thr862=) rs747000656 0.00001
NM_005045.4(RELN):c.2603G>A (p.Ser868Asn) rs926955647 0.00001
NM_005045.4(RELN):c.261G>T (p.Leu87Phe) rs779347175 0.00001
NM_005045.4(RELN):c.2666A>G (p.Asn889Ser) rs757941136 0.00001
NM_005045.4(RELN):c.2703-9C>G rs775212341 0.00001
NM_005045.4(RELN):c.2725G>T (p.Ala909Ser) rs1167526294 0.00001
NM_005045.4(RELN):c.2737C>T (p.Arg913Cys) rs771172788 0.00001
NM_005045.4(RELN):c.276A>G (p.Leu92=) rs753140684 0.00001
NM_005045.4(RELN):c.2860A>G (p.Thr954Ala) rs1471834146 0.00001
NM_005045.4(RELN):c.2895+8T>C rs1157322673 0.00001
NM_005045.4(RELN):c.2896-14del rs1456669907 0.00001
NM_005045.4(RELN):c.2934A>T (p.Thr978=) rs1831933950 0.00001
NM_005045.4(RELN):c.293T>C (p.Val98Ala) rs1471699014 0.00001
NM_005045.4(RELN):c.2949C>T (p.Tyr983=) rs776779660 0.00001
NM_005045.4(RELN):c.2976G>A (p.Arg992=) rs1250895278 0.00001
NM_005045.4(RELN):c.3005C>G (p.Thr1002Ser) rs1376812440 0.00001
NM_005045.4(RELN):c.3008+6A>G rs1229943471 0.00001
NM_005045.4(RELN):c.3008+9A>G rs370615329 0.00001
NM_005045.4(RELN):c.3009-11C>T rs775663896 0.00001
NM_005045.4(RELN):c.3022C>T (p.Arg1008Cys) rs774777246 0.00001
NM_005045.4(RELN):c.3028C>T (p.Arg1010Cys) rs375752077 0.00001
NM_005045.4(RELN):c.3107T>A (p.Met1036Lys) rs1831762757 0.00001
NM_005045.4(RELN):c.3109T>G (p.Cys1037Gly) rs1262470607 0.00001
NM_005045.4(RELN):c.3129C>T (p.Cys1043=) rs149062691 0.00001
NM_005045.4(RELN):c.3146+5G>A rs1468648706 0.00001
NM_005045.4(RELN):c.3146+9A>G rs770607243 0.00001
NM_005045.4(RELN):c.3147-15C>T rs773147896 0.00001
NM_005045.4(RELN):c.3147-19C>T rs749025430 0.00001
NM_005045.4(RELN):c.3164A>G (p.Gln1055Arg) rs1455749393 0.00001
NM_005045.4(RELN):c.3210G>A (p.Met1070Ile) rs1298824421 0.00001
NM_005045.4(RELN):c.3288A>G (p.Gln1096=) rs758505618 0.00001
NM_005045.4(RELN):c.3309T>C (p.Ser1103=) rs1831723080 0.00001
NM_005045.4(RELN):c.331G>A (p.Gly111Arg) rs760704088 0.00001
NM_005045.4(RELN):c.3334-18T>A rs756539659 0.00001
NM_005045.4(RELN):c.337+20C>T rs1462252546 0.00001
NM_005045.4(RELN):c.337+8A>G rs779117982 0.00001
NM_005045.4(RELN):c.3412G>A (p.Gly1138Arg) rs772114071 0.00001
NM_005045.4(RELN):c.34C>T (p.Leu12Phe) rs760894850 0.00001
NM_005045.4(RELN):c.3511A>G (p.Met1171Val) rs374443790 0.00001
NM_005045.4(RELN):c.3527T>G (p.Phe1176Cys) rs755937551 0.00001
NM_005045.4(RELN):c.3539+15G>A rs1562912702 0.00001
NM_005045.4(RELN):c.3540-20A>G rs1390416603 0.00001
NM_005045.4(RELN):c.356A>G (p.Gln119Arg) rs770981899 0.00001
NM_005045.4(RELN):c.3617G>A (p.Gly1206Glu) rs866737719 0.00001
NM_005045.4(RELN):c.3622G>A (p.Asp1208Asn) rs1230772547 0.00001
NM_005045.4(RELN):c.3638C>T (p.Ala1213Val) rs750474453 0.00001
NM_005045.4(RELN):c.3645T>C (p.Asp1215=) rs571231412 0.00001
NM_005045.4(RELN):c.3664G>A (p.Glu1222Lys) rs762404220 0.00001
NM_005045.4(RELN):c.3673A>G (p.Lys1225Glu) rs747877040 0.00001
NM_005045.4(RELN):c.3700A>G (p.Thr1234Ala) rs758305250 0.00001
NM_005045.4(RELN):c.3706C>T (p.Pro1236Ser) rs750302438 0.00001
NM_005045.4(RELN):c.3711+9_3711+10del rs1482562155 0.00001
NM_005045.4(RELN):c.3712-7C>A rs1240051573 0.00001
NM_005045.4(RELN):c.3789G>A (p.Met1263Ile) rs778006321 0.00001
NM_005045.4(RELN):c.3805T>C (p.Phe1269Leu) rs794727441 0.00001
NM_005045.4(RELN):c.3809G>T (p.Cys1270Phe) rs1831475457 0.00001
NM_005045.4(RELN):c.3849T>G (p.Asp1283Glu) rs964191577 0.00001
NM_005045.4(RELN):c.3872G>A (p.Arg1291Gln) rs774998117 0.00001
NM_005045.4(RELN):c.3912+14A>G rs777883012 0.00001
NM_005045.4(RELN):c.3912+2T>G rs1226957030 0.00001
NM_005045.4(RELN):c.3920T>C (p.Ile1307Thr) rs1372349812 0.00001
NM_005045.4(RELN):c.3939C>T (p.Phe1313=) rs781481738 0.00001
NM_005045.4(RELN):c.396C>T (p.His132=) rs747450340 0.00001
NM_005045.4(RELN):c.397G>A (p.Val133Met) rs200611900 0.00001
NM_005045.4(RELN):c.3980C>T (p.Ala1327Val) rs959509012 0.00001
NM_005045.4(RELN):c.4006G>C (p.Glu1336Gln) rs758828226 0.00001
NM_005045.4(RELN):c.4019C>T (p.Pro1340Leu) rs754927978 0.00001
NM_005045.4(RELN):c.4041C>T (p.Cys1347=) rs762723785 0.00001
NM_005045.4(RELN):c.4075A>G (p.Met1359Val) rs772573526 0.00001
NM_005045.4(RELN):c.408G>C (p.Leu136=) rs1554427416 0.00001
NM_005045.4(RELN):c.4176C>A (p.Ser1392Arg) rs765007573 0.00001
NM_005045.4(RELN):c.4195C>G (p.Pro1399Ala) rs759880105 0.00001
NM_005045.4(RELN):c.4369A>C (p.Lys1457Gln) rs890007891 0.00001
NM_005045.4(RELN):c.4395A>C (p.Ile1465=) rs777127263 0.00001
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu) rs896069835 0.00001
NM_005045.4(RELN):c.4457A>G (p.Asn1486Ser) rs202161592 0.00001
NM_005045.4(RELN):c.4481G>A (p.Arg1494Gln) rs540271067 0.00001
NM_005045.4(RELN):c.4482G>A (p.Arg1494=) rs377181911 0.00001
NM_005045.4(RELN):c.4484C>T (p.Thr1495Met) rs369404310 0.00001
NM_005045.4(RELN):c.449C>T (p.Ala150Val) rs752566456 0.00001
NM_005045.4(RELN):c.450G>A (p.Ala150=) rs767384684 0.00001
NM_005045.4(RELN):c.4512-17A>C rs1219932433 0.00001
NM_005045.4(RELN):c.4521A>G (p.Gln1507=) rs1172611728 0.00001
NM_005045.4(RELN):c.4542C>T (p.Ser1514=) rs1317877632 0.00001
NM_005045.4(RELN):c.4564A>T (p.Ile1522Phe) rs757322020 0.00001
NM_005045.4(RELN):c.4632T>C (p.His1544=) rs759271716 0.00001
NM_005045.4(RELN):c.4647G>C (p.Leu1549Phe) rs769890427 0.00001
NM_005045.4(RELN):c.4713T>C (p.Pro1571=) rs546656701 0.00001
NM_005045.4(RELN):c.4719G>A (p.Thr1573=) rs370566453 0.00001
NM_005045.4(RELN):c.4737A>G (p.Gln1579=) rs768948021 0.00001
NM_005045.4(RELN):c.4739C>T (p.Pro1580Leu) rs1488556290 0.00001
NM_005045.4(RELN):c.4747+13T>C rs1399403953 0.00001
NM_005045.4(RELN):c.4785T>A (p.Leu1595=) rs1216022913 0.00001
NM_005045.4(RELN):c.4840A>G (p.Ile1614Val) rs758157213 0.00001
NM_005045.4(RELN):c.4865G>A (p.Arg1622Gln) rs114306581 0.00001
NM_005045.4(RELN):c.4903A>G (p.Met1635Val) rs746451678 0.00001
NM_005045.4(RELN):c.4904T>G (p.Met1635Arg) rs779701633 0.00001
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly) rs587780439 0.00001
NM_005045.4(RELN):c.4918A>G (p.Ile1640Val) rs756988903 0.00001
NM_005045.4(RELN):c.491G>A (p.Arg164Gln) rs1193525098 0.00001
NM_005045.4(RELN):c.4934T>C (p.Ile1645Thr) rs537366000 0.00001
NM_005045.4(RELN):c.4936+11T>G rs767475321 0.00001
NM_005045.4(RELN):c.4936+7A>T rs1219192080 0.00001
NM_005045.4(RELN):c.4950T>C (p.Tyr1650=) rs145072594 0.00001
NM_005045.4(RELN):c.4951G>T (p.Ala1651Ser) rs755003399 0.00001
NM_005045.4(RELN):c.4977A>G (p.Ser1659=) rs766447756 0.00001
NM_005045.4(RELN):c.5048A>T (p.Gln1683Leu) rs573252865 0.00001
NM_005045.4(RELN):c.5067C>A (p.Asn1689Lys) rs1030981974 0.00001
NM_005045.4(RELN):c.5075A>G (p.Lys1692Arg) rs1001125058 0.00001
NM_005045.4(RELN):c.5117T>C (p.Ile1706Thr) rs1156996317 0.00001
NM_005045.4(RELN):c.5135C>T (p.Thr1712Met) rs1056128260 0.00001
NM_005045.4(RELN):c.5146A>G (p.Ile1716Val) rs776664031 0.00001
NM_005045.4(RELN):c.5166C>G (p.Phe1722Leu) rs886061856 0.00001
NM_005045.4(RELN):c.5179C>T (p.Arg1727Trp) rs757649565 0.00001
NM_005045.4(RELN):c.5180G>A (p.Arg1727Gln) rs754100999 0.00001
NM_005045.4(RELN):c.5210+8T>C rs1207146460 0.00001
NM_005045.4(RELN):c.5227T>C (p.Phe1743Leu) rs773427684 0.00001
NM_005045.4(RELN):c.525G>C (p.Gln175His) rs369997646 0.00001
NM_005045.4(RELN):c.5268C>T (p.Ser1756=) rs756732080 0.00001
NM_005045.4(RELN):c.5289A>G (p.Val1763=) rs1197000172 0.00001
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu) rs766384576 0.00001
NM_005045.4(RELN):c.5352-14C>A rs779693262 0.00001
NM_005045.4(RELN):c.5352-9C>G rs758405612 0.00001
NM_005045.4(RELN):c.5371G>A (p.Gly1791Arg) rs1422208791 0.00001
NM_005045.4(RELN):c.5377T>G (p.Tyr1793Asp) rs760957004 0.00001
NM_005045.4(RELN):c.5378A>G (p.Tyr1793Cys) rs775962499 0.00001
NM_005045.4(RELN):c.5379T>C (p.Tyr1793=) rs772320097 0.00001
NM_005045.4(RELN):c.5390T>C (p.Val1797Ala) rs1462688546 0.00001
NM_005045.4(RELN):c.5393T>C (p.Val1798Ala) rs774664608 0.00001
NM_005045.4(RELN):c.5418C>T (p.Asp1806=) rs746613525 0.00001
NM_005045.4(RELN):c.544+7G>A rs747634030 0.00001
NM_005045.4(RELN):c.545-13T>C rs374325507 0.00001
NM_005045.4(RELN):c.5462A>G (p.Tyr1821Cys) rs756424740 0.00001
NM_005045.4(RELN):c.5489G>A (p.Gly1830Asp) rs1255854701 0.00001
NM_005045.4(RELN):c.5498T>C (p.Ile1833Thr) rs766824018 0.00001
NM_005045.4(RELN):c.5547T>C (p.Leu1849=) rs766701326 0.00001
NM_005045.4(RELN):c.5564A>G (p.Asp1855Gly) rs773698234 0.00001
NM_005045.4(RELN):c.5605A>G (p.Ile1869Val) rs749251239 0.00001
NM_005045.4(RELN):c.5630C>A (p.Ser1877Tyr) rs1253194353 0.00001
NM_005045.4(RELN):c.568C>G (p.Pro190Ala) rs1200261994 0.00001
NM_005045.4(RELN):c.5700T>C (p.Phe1900=) rs766948394 0.00001
NM_005045.4(RELN):c.570A>T (p.Pro190=) rs768360835 0.00001
NM_005045.4(RELN):c.5717T>C (p.Ile1906Thr) rs772921952 0.00001
NM_005045.4(RELN):c.5730T>C (p.Asn1910=) rs761717557 0.00001
NM_005045.4(RELN):c.5742A>G (p.Pro1914=) rs973154658 0.00001
NM_005045.4(RELN):c.5744A>G (p.Tyr1915Cys) rs1373786748 0.00001
NM_005045.4(RELN):c.5747C>G (p.Thr1916Ser) rs1223552734 0.00001
NM_005045.4(RELN):c.5756C>A (p.Thr1919Asn) rs534336272 0.00001
NM_005045.4(RELN):c.577+9T>C rs750186579 0.00001
NM_005045.4(RELN):c.578-20A>G rs370595753 0.00001
NM_005045.4(RELN):c.5790T>C (p.Tyr1930=) rs797045916 0.00001
NM_005045.4(RELN):c.5797+7A>C rs1445845325 0.00001
NM_005045.4(RELN):c.589A>G (p.Ser197Gly) rs756193988 0.00001
NM_005045.4(RELN):c.5904C>A (p.Asp1968Glu) rs142987135 0.00001
NM_005045.4(RELN):c.5932A>G (p.Ile1978Val) rs778268821 0.00001
NM_005045.4(RELN):c.5934C>T (p.Ile1978=) rs141509094 0.00001
NM_005045.4(RELN):c.5936G>A (p.Gly1979Asp) rs1383865192 0.00001
NM_005045.4(RELN):c.5942A>G (p.Tyr1981Cys) rs979289169 0.00001
NM_005045.4(RELN):c.5965G>A (p.Ala1989Thr) rs1233107226 0.00001
NM_005045.4(RELN):c.5970-8T>G rs1397359357 0.00001
NM_005045.4(RELN):c.5973A>G (p.Glu1991=) rs888620136 0.00001
NM_005045.4(RELN):c.6032G>A (p.Arg2011His) rs762880714 0.00001
NM_005045.4(RELN):c.6036C>G (p.Asp2012Glu) rs114461466 0.00001
NM_005045.4(RELN):c.6072+4C>G rs369869975 0.00001
NM_005045.4(RELN):c.6089C>T (p.Ser2030Leu) rs779803541 0.00001
NM_005045.4(RELN):c.6105C>T (p.Ser2035=) rs375117582 0.00001
NM_005045.4(RELN):c.6107C>T (p.Ala2036Val) rs368438329 0.00001
NM_005045.4(RELN):c.6157C>T (p.Leu2053Phe) rs779142703 0.00001
NM_005045.4(RELN):c.6163C>T (p.Leu2055=) rs757357348 0.00001
NM_005045.4(RELN):c.6164T>C (p.Leu2055Pro) rs1190177632 0.00001
NM_005045.4(RELN):c.6192C>T (p.His2064=) rs764737797 0.00001
NM_005045.4(RELN):c.6256G>A (p.Gly2086Ser) rs752958202 0.00001
NM_005045.4(RELN):c.6273C>T (p.Val2091=) rs143293865 0.00001
NM_005045.4(RELN):c.6302+11G>A rs763643417 0.00001
NM_005045.4(RELN):c.6303-9C>T rs200658237 0.00001
NM_005045.4(RELN):c.6310C>T (p.Arg2104Cys) rs758883183 0.00001
NM_005045.4(RELN):c.6342C>T (p.Ala2114=) rs763529790 0.00001
NM_005045.4(RELN):c.6351G>A (p.Gln2117=) rs752431895 0.00001
NM_005045.4(RELN):c.6353C>T (p.Pro2118Leu) rs767320971 0.00001
NM_005045.4(RELN):c.6398A>C (p.Glu2133Ala) rs1349996046 0.00001
NM_005045.4(RELN):c.6431A>G (p.Asn2144Ser) rs776658515 0.00001
NM_005045.4(RELN):c.6440A>C (p.Lys2147Thr) rs1184255602 0.00001
NM_005045.4(RELN):c.6467G>T (p.Gly2156Val) rs1830260428 0.00001
NM_005045.4(RELN):c.6471A>G (p.Pro2157=) rs370086835 0.00001
NM_005045.4(RELN):c.6512A>G (p.Asp2171Gly) rs754745320 0.00001
NM_005045.4(RELN):c.656+9C>T rs760168751 0.00001
NM_005045.4(RELN):c.6579G>A (p.Lys2193=) rs764925228 0.00001
NM_005045.4(RELN):c.6597T>A (p.Ser2199Arg) rs1353952617 0.00001
NM_005045.4(RELN):c.6607C>A (p.Leu2203Ile) rs1296074586 0.00001
NM_005045.4(RELN):c.673T>G (p.Cys225Gly) rs371731772 0.00001
NM_005045.4(RELN):c.6770C>T (p.Ser2257Leu) rs773832988 0.00001
NM_005045.4(RELN):c.6771G>A (p.Ser2257=) rs367867782 0.00001
NM_005045.4(RELN):c.6827T>C (p.Ile2276Thr) rs748141276 0.00001
NM_005045.4(RELN):c.6869G>A (p.Arg2290His) rs1035646248 0.00001
NM_005045.4(RELN):c.6906C>T (p.Phe2302=) rs747931938 0.00001
NM_005045.4(RELN):c.6930+10T>G rs754217683 0.00001
NM_005045.4(RELN):c.6931-7A>G rs1206292892 0.00001
NM_005045.4(RELN):c.6938T>C (p.Ile2313Thr) rs141004002 0.00001
NM_005045.4(RELN):c.6950T>C (p.Ile2317Thr) rs1469133138 0.00001
NM_005045.4(RELN):c.7014C>G (p.His2338Gln) rs1562879189 0.00001
NM_005045.4(RELN):c.7055A>T (p.Asp2352Val) rs143688278 0.00001
NM_005045.4(RELN):c.7070T>C (p.Ile2357Thr) rs770986138 0.00001
NM_005045.4(RELN):c.707A>G (p.His236Arg) rs771005621 0.00001
NM_005045.4(RELN):c.7093G>A (p.Val2365Met) rs756299161 0.00001
NM_005045.4(RELN):c.7094T>G (p.Val2365Gly) rs1424394208 0.00001
NM_005045.4(RELN):c.7108G>A (p.Val2370Ile) rs752238353 0.00001
NM_005045.4(RELN):c.7128C>G (p.Ser2376=) rs116057819 0.00001
NM_005045.4(RELN):c.7160C>T (p.Ser2387Leu) rs539045917 0.00001
NM_005045.4(RELN):c.7173T>C (p.Ser2391=) rs770948566 0.00001
NM_005045.4(RELN):c.717C>T (p.Ala239=) rs368472328 0.00001
NM_005045.4(RELN):c.7180+8T>C rs1022021889 0.00001
NM_005045.4(RELN):c.7181C>T (p.Ala2394Val) rs762035577 0.00001
NM_005045.4(RELN):c.7182G>A (p.Ala2394=) rs879182818 0.00001
NM_005045.4(RELN):c.7254T>A (p.Asn2418Lys) rs1307372831 0.00001
NM_005045.4(RELN):c.7256T>G (p.Val2419Gly) rs777442978 0.00001
NM_005045.4(RELN):c.7267C>T (p.Arg2423Cys) rs1165686675 0.00001
NM_005045.4(RELN):c.7349+16C>G rs1830024527 0.00001
NM_005045.4(RELN):c.7349+2T>C rs982831716 0.00001
NM_005045.4(RELN):c.737A>G (p.Tyr246Cys) rs779269833 0.00001
NM_005045.4(RELN):c.7398G>A (p.Lys2466=) rs376360223 0.00001
NM_005045.4(RELN):c.7407A>G (p.Thr2469=) rs1287285958 0.00001
NM_005045.4(RELN):c.7451T>C (p.Met2484Thr) rs1402071263 0.00001
NM_005045.4(RELN):c.7488C>T (p.Cys2496=) rs749810768 0.00001
NM_005045.4(RELN):c.7489G>A (p.Val2497Ile) rs375694777 0.00001
NM_005045.4(RELN):c.7498G>C (p.Glu2500Gln) rs1554369707 0.00001
NM_005045.4(RELN):c.74C>T (p.Ala25Val) rs757957218 0.00001
NM_005045.4(RELN):c.7533G>A (p.Glu2511=) rs746541692 0.00001
NM_005045.4(RELN):c.7554C>T (p.Leu2518=) rs115728370 0.00001
NM_005045.4(RELN):c.7614A>G (p.Lys2538=) rs762366813 0.00001
NM_005045.4(RELN):c.7641G>A (p.Ala2547=) rs749089939 0.00001
NM_005045.4(RELN):c.7668+13C>T rs751859147 0.00001
NM_005045.4(RELN):c.7668+16C>T rs1286551839 0.00001
NM_005045.4(RELN):c.7668+3G>T rs748053614 0.00001
NM_005045.4(RELN):c.7669G>A (p.Gly2557Ser) rs560581732 0.00001
NM_005045.4(RELN):c.7713T>C (p.Asn2571=) rs1359170573 0.00001
NM_005045.4(RELN):c.7739T>C (p.Met2580Thr) rs758615073 0.00001
NM_005045.4(RELN):c.7760C>A (p.Pro2587Gln) rs1455056584 0.00001
NM_005045.4(RELN):c.7762A>C (p.Asn2588His) rs569919781 0.00001
NM_005045.4(RELN):c.7768C>T (p.Arg2590Cys) rs1313455580 0.00001
NM_005045.4(RELN):c.7769G>A (p.Arg2590His) rs541813551 0.00001
NM_005045.4(RELN):c.7862+10C>T rs778110918 0.00001
NM_005045.4(RELN):c.7862+19A>G rs1333674461 0.00001
NM_005045.4(RELN):c.7897G>A (p.Glu2633Lys) rs958494439 0.00001
NM_005045.4(RELN):c.7915C>T (p.Arg2639Cys) rs770944264 0.00001
NM_005045.4(RELN):c.7938C>T (p.Asp2646=) rs748558740 0.00001
NM_005045.4(RELN):c.7963A>G (p.Ile2655Val) rs1829536442 0.00001
NM_005045.4(RELN):c.7974C>T (p.Val2658=) rs1279589989 0.00001
NM_005045.4(RELN):c.8011C>G (p.Leu2671Val) rs761934008 0.00001
NM_005045.4(RELN):c.8013G>A (p.Leu2671=) rs1427557542 0.00001
NM_005045.4(RELN):c.8028C>T (p.Ser2676=) rs777057396 0.00001
NM_005045.4(RELN):c.8038C>T (p.Pro2680Ser) rs777417208 0.00001
NM_005045.4(RELN):c.8076C>T (p.Val2692=) rs772775437 0.00001
NM_005045.4(RELN):c.8095A>G (p.Met2699Val) rs747867154 0.00001
NM_005045.4(RELN):c.8119+12A>G rs779816123 0.00001
NM_005045.4(RELN):c.8119+14A>C rs1309521769 0.00001
NM_005045.4(RELN):c.8146G>A (p.Asp2716Asn) rs771804551 0.00001
NM_005045.4(RELN):c.8182G>A (p.Gly2728Ser) rs1463489255 0.00001
NM_005045.4(RELN):c.8199C>T (p.Gly2733=) rs1829388946 0.00001
NM_005045.4(RELN):c.8202T>C (p.Ser2734=) rs756304815 0.00001
NM_005045.4(RELN):c.8217G>C (p.Glu2739Asp) rs776006380 0.00001
NM_005045.4(RELN):c.8248A>C (p.Thr2750Pro) rs1168374024 0.00001
NM_005045.4(RELN):c.8261T>G (p.Ile2754Ser) rs771681966 0.00001
NM_005045.4(RELN):c.8269T>C (p.Phe2757Leu) rs560897786 0.00001
NM_005045.4(RELN):c.8347G>A (p.Gly2783Ser) rs794727997 0.00001
NM_005045.4(RELN):c.8363A>G (p.Tyr2788Cys) rs1259871212 0.00001
NM_005045.4(RELN):c.8378G>A (p.Cys2793Tyr) rs774015567 0.00001
NM_005045.4(RELN):c.8389G>A (p.Asp2797Asn) rs765919904 0.00001
NM_005045.4(RELN):c.8418G>A (p.Gln2806=) rs922987625 0.00001
NM_005045.4(RELN):c.841A>C (p.Ser281Arg) rs745910911 0.00001
NM_005045.4(RELN):c.8425G>A (p.Val2809Ile) rs377669512 0.00001
NM_005045.4(RELN):c.8446T>C (p.Trp2816Arg) rs758525714 0.00001
NM_005045.4(RELN):c.8490-3T>C rs373564931 0.00001
NM_005045.4(RELN):c.8490-4A>G rs759954678 0.00001
NM_005045.4(RELN):c.8528T>C (p.Met2843Thr) rs1391842678 0.00001
NM_005045.4(RELN):c.8541C>T (p.Ile2847=) rs746020620 0.00001
NM_005045.4(RELN):c.8542G>A (p.Asp2848Asn) rs147624295 0.00001
NM_005045.4(RELN):c.8559C>T (p.Gly2853=) rs749622361 0.00001
NM_005045.4(RELN):c.8637G>A (p.Gly2879=) rs775643854 0.00001
NM_005045.4(RELN):c.8667+17G>A rs749919235 0.00001
NM_005045.4(RELN):c.8667+6G>C rs770342200 0.00001
NM_005045.4(RELN):c.8667+7G>A rs374916288 0.00001
NM_005045.4(RELN):c.8668-17G>A rs1309138411 0.00001
NM_005045.4(RELN):c.8672T>C (p.Phe2891Ser) rs752516448 0.00001
NM_005045.4(RELN):c.8685C>T (p.Arg2895=) rs201097384 0.00001
NM_005045.4(RELN):c.8729A>G (p.Glu2910Gly) rs889984899 0.00001
NM_005045.4(RELN):c.875C>T (p.Ala292Val) rs138975479 0.00001
NM_005045.4(RELN):c.876G>A (p.Ala292=) rs757968034 0.00001
NM_005045.4(RELN):c.8797A>G (p.Thr2933Ala) rs1172953100 0.00001
NM_005045.4(RELN):c.8802G>A (p.Val2934=) rs1182011781 0.00001
NM_005045.4(RELN):c.8843+10T>A rs747781226 0.00001
NM_005045.4(RELN):c.8843+9A>G rs567245963 0.00001
NM_005045.4(RELN):c.8884A>G (p.Met2962Val) rs772961648 0.00001
NM_005045.4(RELN):c.8895C>T (p.Cys2965=) rs901430026 0.00001
NM_005045.4(RELN):c.88T>A (p.Tyr30Asn) rs764175823 0.00001
NM_005045.4(RELN):c.8900G>A (p.Arg2967His) rs753114314 0.00001
NM_005045.4(RELN):c.8911C>T (p.Arg2971Trp) rs767932869 0.00001
NM_005045.4(RELN):c.8923G>A (p.Val2975Met) rs369856463 0.00001
NM_005045.4(RELN):c.8970C>T (p.Leu2990=) rs931942559 0.00001
NM_005045.4(RELN):c.9009C>T (p.His3003=) rs750882329 0.00001
NM_005045.4(RELN):c.9016A>C (p.Ile3006Leu) rs755660948 0.00001
NM_005045.4(RELN):c.9019C>T (p.Leu3007Phe) rs752135641 0.00001
NM_005045.4(RELN):c.9086A>G (p.Asn3029Ser) rs886044056 0.00001
NM_005045.4(RELN):c.9105G>A (p.Gly3035=) rs1279644782 0.00001
NM_005045.4(RELN):c.9113G>A (p.Arg3038His) rs1828848847 0.00001
NM_005045.4(RELN):c.9194-10T>C rs1242391167 0.00001
NM_005045.4(RELN):c.9220A>T (p.Ser3074Cys) rs774630932 0.00001
NM_005045.4(RELN):c.9279C>T (p.Leu3093=) rs138856852 0.00001
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys) rs750252271 0.00001
NM_005045.4(RELN):c.9309T>A (p.Thr3103=) rs753680411 0.00001
NM_005045.4(RELN):c.9350G>C (p.Gly3117Ala) rs376611357 0.00001
NM_005045.4(RELN):c.9369+6G>C rs770317549 0.00001
NM_005045.4(RELN):c.9399T>C (p.Cys3133=) rs752787017 0.00001
NM_005045.4(RELN):c.940T>C (p.Tyr314His) rs763000457 0.00001
NM_005045.4(RELN):c.9447G>A (p.Ser3149=) rs770503009 0.00001
NM_005045.4(RELN):c.9589G>A (p.Asp3197Asn) rs147777191 0.00001
NM_005045.4(RELN):c.9605+14T>C rs748000925 0.00001
NM_005045.4(RELN):c.9605+9C>T rs1395438694 0.00001
NM_005045.4(RELN):c.9664A>G (p.Ile3222Val) rs142638365 0.00001
NM_005045.4(RELN):c.9669C>G (p.Asp3223Glu) rs1442238479 0.00001
NM_005045.4(RELN):c.9672C>T (p.His3224=) rs781754733 0.00001
NM_005045.4(RELN):c.9751G>A (p.Glu3251Lys) rs376520049 0.00001
NM_005045.4(RELN):c.9763+7A>C rs1236844032 0.00001
NM_005045.4(RELN):c.9790G>A (p.Asp3264Asn) rs770064368 0.00001
NM_005045.4(RELN):c.9813T>C (p.Asp3271=) rs780599729 0.00001
NM_005045.4(RELN):c.9832G>C (p.Val3278Leu) rs1381921892 0.00001
NM_005045.4(RELN):c.9838G>A (p.Glu3280Lys) rs1354755133 0.00001
NM_005045.4(RELN):c.9924C>T (p.Tyr3308=) rs772582250 0.00001
NM_005045.4(RELN):c.9948A>G (p.Gln3316=) rs141930548 0.00001
NM_006270.5(RRAS):c.102C>T (p.Val34=) rs754204165 0.00001
NM_006270.5(RRAS):c.11G>C (p.Gly4Ala) rs1201865280 0.00001
NM_006270.5(RRAS):c.153+3A>G rs200100211 0.00001
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe) rs908791453 0.00001
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977 0.00001
NM_006270.5(RRAS):c.200C>T (p.Thr67Met) rs778415296 0.00001
NM_006270.5(RRAS):c.201G>A (p.Thr67=) rs1421164782 0.00001
NM_006270.5(RRAS):c.233G>A (p.Arg78Gln) rs1162722748 0.00001
NM_006270.5(RRAS):c.241+13A>G rs765391621 0.00001
NM_006270.5(RRAS):c.296G>A (p.Arg99His) rs1287689249 0.00001
NM_006270.5(RRAS):c.325G>A (p.Ala109Thr) rs1358894507 0.00001
NM_006270.5(RRAS):c.351C>T (p.Asn117=) rs374077706 0.00001
NM_006270.5(RRAS):c.363G>A (p.Lys121=) rs557007484 0.00001
NM_006270.5(RRAS):c.372G>A (p.Thr124=) rs368978550 0.00001
NM_006270.5(RRAS):c.37C>A (p.Arg13=) rs1272875791 0.00001
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys) rs773258112 0.00001
NM_006270.5(RRAS):c.396C>T (p.Arg132=) rs748366671 0.00001
NM_006270.5(RRAS):c.421G>A (p.Gly141Arg) rs373485975 0.00001
NM_006270.5(RRAS):c.422G>C (p.Gly141Ala) rs369240501 0.00001
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter) rs896071517 0.00001
NM_006270.5(RRAS):c.448C>T (p.Arg150Cys) rs767209383 0.00001
NM_006270.5(RRAS):c.453+4C>T rs774803334 0.00001
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr) rs1423079476 0.00001
NM_006270.5(RRAS):c.496G>A (p.Val166Met) rs151171681 0.00001
NM_006270.5(RRAS):c.509A>G (p.Glu170Gly) rs1162824119 0.00001
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165 0.00001
NM_006270.5(RRAS):c.527G>A (p.Arg176His) rs556200895 0.00001
NM_006270.5(RRAS):c.534C>T (p.Asn178=) rs773121618 0.00001
NM_006270.5(RRAS):c.535G>A (p.Val179Met) rs769754956 0.00001
NM_006270.5(RRAS):c.53G>A (p.Gly18Glu) rs1447937831 0.00001
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp) rs538230538 0.00001
NM_006270.5(RRAS):c.614C>T (p.Ala205Val) rs1043558932 0.00001
NM_006270.5(RRAS):c.61C>T (p.Pro21Ser) rs1166281308 0.00001
NM_006270.5(RRAS):c.624G>A (p.Lys208=) rs775471738 0.00001
NM_006270.5(RRAS):c.652C>T (p.Leu218=) rs781768996 0.00001
NM_006270.5(RRAS):c.69C>T (p.Asp23=) rs1458889244 0.00001
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu) rs558985706 0.00001
NM_006432.5(NPC2):c.115G>A (p.Val39Met) rs80358261 0.00001
NM_006432.5(NPC2):c.129C>T (p.Pro43=) rs760668431 0.00001
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_006432.5(NPC2):c.150C>T (p.Ser50=) rs2086712392 0.00001
NM_006432.5(NPC2):c.160T>C (p.Ser54Pro) rs767080399 0.00001
NM_006432.5(NPC2):c.183C>T (p.Phe61=) rs768296377 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006432.5(NPC2):c.190+6dup rs770729278 0.00001
NM_006432.5(NPC2):c.191-10T>C rs907643924 0.00001
NM_006432.5(NPC2):c.191-8T>C rs1404077821 0.00001
NM_006432.5(NPC2):c.191A>T (p.Asn64Ile) rs1391222276 0.00001
NM_006432.5(NPC2):c.222G>A (p.Val74=) rs763523833 0.00001
NM_006432.5(NPC2):c.240C>T (p.Gly80=) rs773836291 0.00001
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg) rs80358264 0.00001
NM_006432.5(NPC2):c.312C>T (p.Asp104=) rs751455041 0.00001
NM_006432.5(NPC2):c.318C>G (p.Thr106=) rs763613633 0.00001
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser) rs104894458 0.00001
NM_006432.5(NPC2):c.364-11T>C rs751545027 0.00001
NM_006432.5(NPC2):c.364-13T>C rs897207821 0.00001
NM_006432.5(NPC2):c.364-3C>T rs927248655 0.00001
NM_006432.5(NPC2):c.370C>T (p.Leu124=) rs757968557 0.00001
NM_006432.5(NPC2):c.406C>G (p.Gln136Glu) rs2086648005 0.00001
NM_006432.5(NPC2):c.414C>A (p.Leu138=) rs1323196897 0.00001
NM_006432.5(NPC2):c.429C>A (p.Ile143=) rs528199992 0.00001
NM_006432.5(NPC2):c.441+9A>G rs372464598 0.00001
NM_006432.5(NPC2):c.455A>G (p.Ter152=) rs1162911732 0.00001
NM_006432.5(NPC2):c.63G>A (p.Pro21=) rs1299194959 0.00001
NM_006432.5(NPC2):c.69G>A (p.Gln23=) rs760160779 0.00001
NM_006432.5(NPC2):c.82+15C>G rs1261259335 0.00001
NM_006432.5(NPC2):c.82+7C>T rs771418765 0.00001
NM_006432.5(NPC2):c.82+9C>T rs553819330 0.00001
NM_006432.5(NPC2):c.86C>G (p.Ser29Cys) rs753010998 0.00001
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189 0.00001
NM_006912.6(RIT1):c.106+10A>G rs781557110 0.00001
NM_006912.6(RIT1):c.107-9C>G rs200597833 0.00001
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser) rs771768320 0.00001
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu) rs747376042 0.00001
NM_006912.6(RIT1):c.141A>G (p.Pro47=) rs1057524417 0.00001
NM_006912.6(RIT1):c.163+12C>A rs372092063 0.00001
NM_006912.6(RIT1):c.163+6C>A rs1157450415 0.00001
NM_006912.6(RIT1):c.164-11C>T rs960250196 0.00001
NM_006912.6(RIT1):c.208A>T (p.Asn70Tyr) rs1394425355 0.00001
NM_006912.6(RIT1):c.237+14G>C rs772575179 0.00001
NM_006912.6(RIT1):c.238-19G>A rs753538357 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_006912.6(RIT1):c.252C>T (p.Ala84=) rs758393035 0.00001
NM_006912.6(RIT1):c.257G>A (p.Arg86Gln) rs1185965337 0.00001
NM_006912.6(RIT1):c.326A>G (p.His109Arg) rs1407666045 0.00001
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784 0.00001
NM_006912.6(RIT1):c.35G>A (p.Cys12Tyr) rs1177306699 0.00001
NM_006912.6(RIT1):c.393T>C (p.Leu131=) rs34974790 0.00001
NM_006912.6(RIT1):c.423A>G (p.Leu141=) rs763445246 0.00001
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln) rs754596127 0.00001
NM_006912.6(RIT1):c.46G>A (p.Ala16Thr) rs1131692009 0.00001
NM_006912.6(RIT1):c.500A>G (p.Tyr167Cys) rs1372704169 0.00001
NM_006912.6(RIT1):c.510T>C (p.Tyr170=) rs765624804 0.00001
NM_006912.6(RIT1):c.516T>C (p.Asp172=) rs148764677 0.00001
NM_006912.6(RIT1):c.539G>A (p.Arg180Gln) rs760845441 0.00001
NM_006912.6(RIT1):c.540G>A (p.Arg180=) rs369738767 0.00001
NM_006912.6(RIT1):c.548G>A (p.Arg183His) rs1673291082 0.00001
NM_006912.6(RIT1):c.564G>A (p.Glu188=) rs1157330685 0.00001
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961 0.00001
NM_006912.6(RIT1):c.594G>A (p.Lys198=) rs779457410 0.00001
NM_006912.6(RIT1):c.603C>T (p.Asn201=) rs367886540 0.00001
NM_006912.6(RIT1):c.99G>A (p.Gly33=) rs199914900 0.00001
NM_006939.4(SOS2):c.1000C>T (p.Arg334Cys) rs1364027643 0.00001
NM_006939.4(SOS2):c.1009C>A (p.Leu337Ile) rs1204583343 0.00001
NM_006939.4(SOS2):c.1059G>A (p.Glu353=) rs1231657921 0.00001
NM_006939.4(SOS2):c.1068+20T>C rs766636506 0.00001
NM_006939.4(SOS2):c.1072T>C (p.Leu358=) rs751147588 0.00001
NM_006939.4(SOS2):c.1121C>A (p.Ala374Asp) rs1447501425 0.00001
NM_006939.4(SOS2):c.1146A>G (p.Gln382=) rs1178247373 0.00001
NM_006939.4(SOS2):c.1196+16T>A rs1885007067 0.00001
NM_006939.4(SOS2):c.1197-3T>C rs1252986580 0.00001
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu) rs201265921 0.00001
NM_006939.4(SOS2):c.1273A>G (p.Lys425Glu) rs372203654 0.00001
NM_006939.4(SOS2):c.1312T>C (p.Cys438Arg) rs368795570 0.00001
NM_006939.4(SOS2):c.1326C>T (p.Phe442=) rs150365706 0.00001
NM_006939.4(SOS2):c.142A>G (p.Ile48Val) rs763552267 0.00001
NM_006939.4(SOS2):c.1430G>A (p.Arg477Gln) rs139953230 0.00001
NM_006939.4(SOS2):c.1443C>T (p.Tyr481=) rs755043578 0.00001
NM_006939.4(SOS2):c.1446T>C (p.Ser482=) rs1468565433 0.00001
NM_006939.4(SOS2):c.1458C>T (p.Tyr486=) rs199651967 0.00001
NM_006939.4(SOS2):c.1557G>C (p.Glu519Asp) rs1884935096 0.00001
NM_006939.4(SOS2):c.1615C>T (p.Leu539Phe) rs781687371 0.00001
NM_006939.4(SOS2):c.1633C>T (p.Arg545Cys) rs148019428 0.00001
NM_006939.4(SOS2):c.1714G>A (p.Val572Ile) rs762733592 0.00001
NM_006939.4(SOS2):c.1716A>G (p.Val572=) rs772880193 0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_006939.4(SOS2):c.1747A>G (p.Asn583Asp) rs1388854755 0.00001
NM_006939.4(SOS2):c.1839T>C (p.Tyr613=) rs780152724 0.00001
NM_006939.4(SOS2):c.1853-10G>A rs1033696008 0.00001
NM_006939.4(SOS2):c.1859A>G (p.Asn620Ser) rs772156276 0.00001
NM_006939.4(SOS2):c.1889G>A (p.Arg630His) rs754778456 0.00001
NM_006939.4(SOS2):c.1911A>T (p.Glu637Asp) rs751563078 0.00001
NM_006939.4(SOS2):c.1934+13T>C rs764631414 0.00001
NM_006939.4(SOS2):c.1935-16T>C rs750298172 0.00001
NM_006939.4(SOS2):c.1973A>G (p.Lys658Arg) rs1317956888 0.00001
NM_006939.4(SOS2):c.1975T>C (p.Leu659=) rs775886849 0.00001
NM_006939.4(SOS2):c.1989A>G (p.Lys663=) rs1488158197 0.00001
NM_006939.4(SOS2):c.2057+15T>A rs1374367606 0.00001
NM_006939.4(SOS2):c.2068G>A (p.Val690Ile) rs766745289 0.00001
NM_006939.4(SOS2):c.214-12G>A rs763259138 0.00001
NM_006939.4(SOS2):c.2161+10A>G rs201629454 0.00001
NM_006939.4(SOS2):c.2162-11T>C rs369526899 0.00001
NM_006939.4(SOS2):c.2184A>C (p.Val728=) rs776046903 0.00001
NM_006939.4(SOS2):c.2245A>G (p.Asn749Asp) rs764992819 0.00001
NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser) rs761689009 0.00001
NM_006939.4(SOS2):c.2253C>T (p.Thr751=) rs1050544302 0.00001
NM_006939.4(SOS2):c.2255T>A (p.Phe752Tyr) rs1392882497 0.00001
NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu) rs868005783 0.00001
NM_006939.4(SOS2):c.2269C>T (p.Pro757Ser) rs775139330 0.00001
NM_006939.4(SOS2):c.2271A>G (p.Pro757=) rs1457757510 0.00001
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly) rs779464455 0.00001
NM_006939.4(SOS2):c.2385-6C>T rs147948407 0.00001
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp) rs886041958 0.00001
NM_006939.4(SOS2):c.2471G>A (p.Arg824His) rs1433825913 0.00001
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser) rs751419448 0.00001
NM_006939.4(SOS2):c.2643A>G (p.Val881=) rs1329137002 0.00001
NM_006939.4(SOS2):c.2646C>T (p.Tyr882=) rs761205651 0.00001
NM_006939.4(SOS2):c.2657A>G (p.His886Arg) rs775815870 0.00001
NM_006939.4(SOS2):c.2668-10A>G rs376672810 0.00001
NM_006939.4(SOS2):c.2722G>A (p.Asp908Asn) rs957376198 0.00001
NM_006939.4(SOS2):c.2730T>A (p.Phe910Leu) rs756711721 0.00001
NM_006939.4(SOS2):c.273A>G (p.Gln91=) rs757139228 0.00001
NM_006939.4(SOS2):c.2849G>A (p.Gly950Glu) rs765330931 0.00001
NM_006939.4(SOS2):c.2916T>C (p.Tyr972=) rs979918396 0.00001
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106 0.00001
NM_006939.4(SOS2):c.2958+17C>T rs889359090 0.00001
NM_006939.4(SOS2):c.2985G>A (p.Met995Ile) rs746630297 0.00001
NM_006939.4(SOS2):c.3026A>G (p.Asn1009Ser) rs779413196 0.00001
NM_006939.4(SOS2):c.3042T>A (p.Ile1014=) rs1447097552 0.00001
NM_006939.4(SOS2):c.3056G>A (p.Cys1019Tyr) rs1883997609 0.00001
NM_006939.4(SOS2):c.3076-20A>T rs760423846 0.00001
NM_006939.4(SOS2):c.3076-3C>T rs1293540485 0.00001
NM_006939.4(SOS2):c.3079A>C (p.Arg1027=) rs1273822060 0.00001
NM_006939.4(SOS2):c.3097T>C (p.Leu1033=) rs1047180820 0.00001
NM_006939.4(SOS2):c.3138C>T (p.Gly1046=) rs755189158 0.00001
NM_006939.4(SOS2):c.3147A>G (p.Ser1049=) rs750291417 0.00001
NM_006939.4(SOS2):c.3149G>T (p.Gly1050Val) rs1012247714 0.00001
NM_006939.4(SOS2):c.3153T>A (p.Thr1051=) rs1156744729 0.00001
NM_006939.4(SOS2):c.3174A>G (p.Pro1058=) rs763708050 0.00001
NM_006939.4(SOS2):c.3215C>T (p.Ala1072Val) rs1798276045 0.00001
NM_006939.4(SOS2):c.3244G>A (p.Ala1082Thr) rs1470270507 0.00001
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln) rs1409054252 0.00001
NM_006939.4(SOS2):c.3267A>G (p.Pro1089=) rs748295112 0.00001
NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu) rs1442962879 0.00001
NM_006939.4(SOS2):c.3277C>T (p.Pro1093Ser) rs755233845 0.00001
NM_006939.4(SOS2):c.3279A>C (p.Pro1093=) rs780697283 0.00001
NM_006939.4(SOS2):c.3338-6C>G rs749149552 0.00001
NM_006939.4(SOS2):c.3356C>T (p.Ala1119Val) rs376113934 0.00001
NM_006939.4(SOS2):c.339G>A (p.Ser113=) rs543155109 0.00001
NM_006939.4(SOS2):c.3407T>C (p.Leu1136Ser) rs372874114 0.00001
NM_006939.4(SOS2):c.340T>C (p.Leu114=) rs1886467495 0.00001
NM_006939.4(SOS2):c.346-3C>T rs758131262 0.00001
NM_006939.4(SOS2):c.3502T>C (p.Ser1168Pro) rs756607027 0.00001
NM_006939.4(SOS2):c.3531G>A (p.Pro1177=) rs1248324702 0.00001
NM_006939.4(SOS2):c.3571G>C (p.Val1191Leu) rs934357386 0.00001
NM_006939.4(SOS2):c.3573T>G (p.Val1191=) rs756940411 0.00001
NM_006939.4(SOS2):c.357G>A (p.Gly119=) rs749639774 0.00001
NM_006939.4(SOS2):c.360C>T (p.Tyr120=) rs762044455 0.00001
NM_006939.4(SOS2):c.3615G>A (p.Pro1205=) rs750601074 0.00001
NM_006939.4(SOS2):c.3619C>T (p.Pro1207Ser) rs1883398374 0.00001
NM_006939.4(SOS2):c.362A>G (p.Lys121Arg) rs1456011298 0.00001
NM_006939.4(SOS2):c.3642T>C (p.Asp1214=) rs376033858 0.00001
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr) rs201756168 0.00001
NM_006939.4(SOS2):c.3738A>C (p.Ser1246=) rs767257405 0.00001
NM_006939.4(SOS2):c.374A>T (p.His125Leu) rs777300218 0.00001
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg) rs772587016 0.00001
NM_006939.4(SOS2):c.3774G>A (p.Ser1258=) rs747521589 0.00001
NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser) rs780772018 0.00001
NM_006939.4(SOS2):c.3793A>G (p.Thr1265Ala) rs1053118797 0.00001
NM_006939.4(SOS2):c.3815G>A (p.Arg1272His) rs200104745 0.00001
NM_006939.4(SOS2):c.3824A>G (p.Tyr1275Cys) rs371619971 0.00001
NM_006939.4(SOS2):c.3825T>C (p.Tyr1275=) rs1163199209 0.00001
NM_006939.4(SOS2):c.3845A>G (p.Asn1282Ser) rs376158218 0.00001
NM_006939.4(SOS2):c.384A>G (p.Leu128=) rs772264111 0.00001
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu) rs865922330 0.00001
NM_006939.4(SOS2):c.3945G>A (p.Ser1315=) rs143427064 0.00001
NM_006939.4(SOS2):c.3954A>G (p.Pro1318=) rs751408063 0.00001
NM_006939.4(SOS2):c.396T>C (p.Ala132=) rs774402309 0.00001
NM_006939.4(SOS2):c.3984A>G (p.Ala1328=) rs776266602 0.00001
NM_006939.4(SOS2):c.3987A>C (p.Glu1329Asp) rs146527239 0.00001
NM_006939.4(SOS2):c.533A>C (p.Gln178Pro) rs1273376869 0.00001
NM_006939.4(SOS2):c.575G>C (p.Ser192Thr) rs1886005182 0.00001
NM_006939.4(SOS2):c.592A>T (p.Asn198Tyr) rs753283972 0.00001
NM_006939.4(SOS2):c.600T>C (p.Tyr200=) rs766470992 0.00001
NM_006939.4(SOS2):c.643C>T (p.Arg215Trp) rs745812984 0.00001
NM_006939.4(SOS2):c.680C>G (p.Ala227Gly) rs756565236 0.00001
NM_006939.4(SOS2):c.753T>C (p.His251=) rs1283549797 0.00001
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe) rs1348457314 0.00001
NM_006939.4(SOS2):c.804T>C (p.Thr268=) rs750437794 0.00001
NM_006939.4(SOS2):c.813C>T (p.Ser271=) rs371598827 0.00001
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser) rs530007285 0.00001
NM_006939.4(SOS2):c.84G>A (p.Arg28=) rs766189187 0.00001
NM_006939.4(SOS2):c.858+7T>C rs560994504 0.00001
NM_006939.4(SOS2):c.859-10A>T rs761341096 0.00001
NM_006939.4(SOS2):c.87+19G>A rs1409712681 0.00001
NM_006939.4(SOS2):c.88-13C>A rs749789629 0.00001
NM_006939.4(SOS2):c.88-17A>G rs776823815 0.00001
NM_006939.4(SOS2):c.88-5T>A rs767732779 0.00001
NM_006939.4(SOS2):c.954T>A (p.Val318=) rs1376460738 0.00001
NM_006939.4(SOS2):c.958C>T (p.Leu320=) rs777858898 0.00001
NM_006939.4(SOS2):c.970-14T>A rs758285778 0.00001
NM_006949.4(STXBP2):c.1024A>G (p.Lys342Glu) rs773931525 0.00001
NM_006949.4(STXBP2):c.1026+16C>T rs1455244038 0.00001
NM_006949.4(STXBP2):c.1026+17A>G rs1171346483 0.00001
NM_006949.4(STXBP2):c.1026+8C>T rs775248878 0.00001
NM_006949.4(STXBP2):c.1027-19C>T rs749674004 0.00001
NM_006949.4(STXBP2):c.1037A>T (p.His346Leu) rs765133484 0.00001
NM_006949.4(STXBP2):c.1067A>G (p.His356Arg) rs764476944 0.00001
NM_006949.4(STXBP2):c.106C>T (p.Pro36Ser) rs773397741 0.00001
NM_006949.4(STXBP2):c.107C>G (p.Pro36Arg) rs763199081 0.00001
NM_006949.4(STXBP2):c.1080G>A (p.Ser360=) rs746338532 0.00001
NM_006949.4(STXBP2):c.1108-10A>G rs765625177 0.00001
NM_006949.4(STXBP2):c.1108-18C>A rs762061676 0.00001
NM_006949.4(STXBP2):c.1125C>T (p.Ser375=) rs147282248 0.00001
NM_006949.4(STXBP2):c.1135G>T (p.Gly379Trp) rs757979426 0.00001
NM_006949.4(STXBP2):c.1152C>T (p.Asp384=) rs1002500717 0.00001
NM_006949.4(STXBP2):c.1189G>A (p.Ala397Thr) rs1295937505 0.00001
NM_006949.4(STXBP2):c.1197C>T (p.Pro399=) rs756948868 0.00001
NM_006949.4(STXBP2):c.1198G>A (p.Ala400Thr) rs778507837 0.00001
NM_006949.4(STXBP2):c.1210A>G (p.Ile404Val) rs748212253 0.00001
NM_006949.4(STXBP2):c.1225C>T (p.Leu409Phe) rs763024326 0.00001
NM_006949.4(STXBP2):c.1230C>T (p.Tyr410=) rs771186417 0.00001
NM_006949.4(STXBP2):c.1240C>T (p.Arg414Trp) rs113305305 0.00001
NM_006949.4(STXBP2):c.1241G>A (p.Arg414Gln) rs202199284 0.00001
NM_006949.4(STXBP2):c.1246+18G>A rs1289146267 0.00001
NM_006949.4(STXBP2):c.1246+4G>A rs111543394 0.00001
NM_006949.4(STXBP2):c.1253G>A (p.Ser418Asn) rs991821954 0.00001
NM_006949.4(STXBP2):c.1264C>T (p.Leu422=) rs1022914979 0.00001
NM_006949.4(STXBP2):c.1266G>A (p.Leu422=) rs1357825251 0.00001
NM_006949.4(STXBP2):c.1273C>T (p.Leu425=) rs766203399 0.00001
NM_006949.4(STXBP2):c.1289A>G (p.Asn430Ser) rs759426286 0.00001
NM_006949.4(STXBP2):c.1299G>A (p.Ala433=) rs542699433 0.00001
NM_006949.4(STXBP2):c.1361C>T (p.Ser454Leu) rs755227395 0.00001
NM_006949.4(STXBP2):c.1370C>G (p.Ser457Cys) rs767692438 0.00001
NM_006949.4(STXBP2):c.1385C>T (p.Pro462Leu) rs573587268 0.00001
NM_006949.4(STXBP2):c.1394G>A (p.Arg465His) rs771732155 0.00001
NM_006949.4(STXBP2):c.1412A>G (p.Gln471Arg) rs1040196718 0.00001
NM_006949.4(STXBP2):c.1423T>C (p.Trp475Arg) rs752928582 0.00001
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) rs121918540 0.00001
NM_006949.4(STXBP2):c.1446A>C (p.Val482=) rs1267281446 0.00001
NM_006949.4(STXBP2):c.1452+17C>T rs866689666 0.00001
NM_006949.4(STXBP2):c.1452+8G>A rs1206831715 0.00001
NM_006949.4(STXBP2):c.1453G>A (p.Asp485Asn) rs1279177809 0.00001
NM_006949.4(STXBP2):c.1469G>A (p.Arg490Gln) rs189009033 0.00001
NM_006949.4(STXBP2):c.1481A>C (p.Asn494Thr) rs1197928359 0.00001
NM_006949.4(STXBP2):c.1484T>G (p.Leu495Arg) rs777364957 0.00001
NM_006949.4(STXBP2):c.1490C>A (p.Pro497His) rs749174262 0.00001
NM_006949.4(STXBP2):c.1494C>T (p.Phe498=) rs779034135 0.00001
NM_006949.4(STXBP2):c.1501G>A (p.Asp501Asn) rs776782833 0.00001
NM_006949.4(STXBP2):c.1515G>T (p.Thr505=) rs369399945 0.00001
NM_006949.4(STXBP2):c.1525C>G (p.Gln509Glu) rs760061071 0.00001
NM_006949.4(STXBP2):c.1535T>G (p.Val512Gly) rs1241981409 0.00001
NM_006949.4(STXBP2):c.1538+16C>T rs769882636 0.00001
NM_006949.4(STXBP2):c.1538+17G>A rs886038579 0.00001
NM_006949.4(STXBP2):c.1539-5C>A rs772438137 0.00001
NM_006949.4(STXBP2):c.1549G>A (p.Gly517Ser) rs200026300 0.00001
NM_006949.4(STXBP2):c.1585C>T (p.Arg529Trp) rs766121039 0.00001
NM_006949.4(STXBP2):c.1592G>C (p.Gly531Ala) rs746118454 0.00001
NM_006949.4(STXBP2):c.1605C>T (p.Ile535=) rs554112164 0.00001
NM_006949.4(STXBP2):c.1606G>A (p.Val536Met) rs374719886 0.00001
NM_006949.4(STXBP2):c.1648G>A (p.Ala550Thr) rs759514227 0.00001
NM_006949.4(STXBP2):c.169+11G>C rs756350869 0.00001
NM_006949.4(STXBP2):c.1694T>C (p.Ile565Thr) rs2032186554 0.00001
NM_006949.4(STXBP2):c.1697-9C>T rs777335531 0.00001
NM_006949.4(STXBP2):c.1701C>T (p.Ser567=) rs775267116 0.00001
NM_006949.4(STXBP2):c.1718C>T (p.Pro573Leu) rs768637937 0.00001
NM_006949.4(STXBP2):c.1732G>A (p.Asp578Asn) rs1187716105 0.00001
NM_006949.4(STXBP2):c.1762G>T (p.Glu588Ter) rs1268122676 0.00001
NM_006949.4(STXBP2):c.1769T>C (p.Ile590Thr) rs745455637 0.00001
NM_006949.4(STXBP2):c.178G>A (p.Asp60Asn) rs2031710370 0.00001
NM_006949.4(STXBP2):c.184A>G (p.Asn62Asp) rs368283130 0.00001
NM_006949.4(STXBP2):c.190C>T (p.Arg64Trp) rs764937841 0.00001
NM_006949.4(STXBP2):c.242A>G (p.Glu81Gly) rs779176001 0.00001
NM_006949.4(STXBP2):c.246+17G>A rs761135377 0.00001
NM_006949.4(STXBP2):c.246+5C>G rs369629603 0.00001
NM_006949.4(STXBP2):c.291C>A (p.Phe97Leu) rs1246771714 0.00001
NM_006949.4(STXBP2):c.294C>T (p.Thr98=) rs764792238 0.00001
NM_006949.4(STXBP2):c.326-5C>G rs752733296 0.00001
NM_006949.4(STXBP2):c.330C>T (p.Cys110=) rs1032960984 0.00001
NM_006949.4(STXBP2):c.359G>A (p.Arg120His) rs777213175 0.00001
NM_006949.4(STXBP2):c.379G>A (p.Val127Met) rs764141843 0.00001
NM_006949.4(STXBP2):c.38-18C>T rs547035697 0.00001
NM_006949.4(STXBP2):c.403C>T (p.Leu135Phe) rs766694710 0.00001
NM_006949.4(STXBP2):c.408C>T (p.Ala136=) rs751879629 0.00001
NM_006949.4(STXBP2):c.413T>A (p.Leu138His) rs1185698344 0.00001
NM_006949.4(STXBP2):c.420C>T (p.Tyr140=) rs373462454 0.00001
NM_006949.4(STXBP2):c.429+10G>A rs771645875 0.00001
NM_006949.4(STXBP2):c.430-12C>T rs1050331269 0.00001
NM_006949.4(STXBP2):c.430-6G>A rs984557811 0.00001
NM_006949.4(STXBP2):c.453C>T (p.His151=) rs1719856733 0.00001
NM_006949.4(STXBP2):c.455G>A (p.Ser152Asn) rs757901890 0.00001
NM_006949.4(STXBP2):c.470A>C (p.Tyr157Ser) rs779731433 0.00001
NM_006949.4(STXBP2):c.481C>T (p.Arg161Trp) rs1274431087 0.00001
NM_006949.4(STXBP2):c.482G>A (p.Arg161Gln) rs1365793463 0.00001
NM_006949.4(STXBP2):c.500G>C (p.Arg167Pro) rs949311854 0.00001
NM_006949.4(STXBP2):c.508G>A (p.Glu170Lys) rs760837844 0.00001
NM_006949.4(STXBP2):c.546C>G (p.Thr182=) rs1391595886 0.00001
NM_006949.4(STXBP2):c.575G>A (p.Arg192His) rs113860815 0.00001
NM_006949.4(STXBP2):c.577A>C (p.Lys193Gln) rs752534004 0.00001
NM_006949.4(STXBP2):c.578+8C>A rs1473440853 0.00001
NM_006949.4(STXBP2):c.578+9C>A rs755913665 0.00001
NM_006949.4(STXBP2):c.622A>C (p.Lys208Gln) rs1015967474 0.00001
NM_006949.4(STXBP2):c.630C>T (p.Asn210=) rs201691423 0.00001
NM_006949.4(STXBP2):c.631G>A (p.Ala211Thr) rs774890011 0.00001
NM_006949.4(STXBP2):c.647C>A (p.Thr216Asn) rs776842309 0.00001
NM_006949.4(STXBP2):c.649C>T (p.Pro217Ser) rs1249890410 0.00001
NM_006949.4(STXBP2):c.658G>A (p.Gly220Ser) rs1414767497 0.00001
NM_006949.4(STXBP2):c.664-19G>A rs374566216 0.00001
NM_006949.4(STXBP2):c.664-20T>C rs1257162911 0.00001
NM_006949.4(STXBP2):c.664-6C>A rs1342749941 0.00001
NM_006949.4(STXBP2):c.679C>T (p.Arg227Cys) rs372973081 0.00001
NM_006949.4(STXBP2):c.694A>T (p.Ile232Leu) rs760638875 0.00001
NM_006949.4(STXBP2):c.704G>A (p.Arg235Gln) rs757488006 0.00001
NM_006949.4(STXBP2):c.715C>T (p.Pro239Ser) rs1418225393 0.00001
NM_006949.4(STXBP2):c.72G>C (p.Lys24Asn) rs763288117 0.00001
NM_006949.4(STXBP2):c.743C>T (p.Thr248Met) rs747513823 0.00001
NM_006949.4(STXBP2):c.750G>A (p.Gln250=) rs146658708 0.00001
NM_006949.4(STXBP2):c.776T>C (p.Ile259Thr) rs764336756 0.00001
NM_006949.4(STXBP2):c.784G>A (p.Asp262Asn) rs749059785 0.00001
NM_006949.4(STXBP2):c.788C>T (p.Thr263Ile) rs970906050 0.00001
NM_006949.4(STXBP2):c.789A>G (p.Thr263=) rs371540379 0.00001
NM_006949.4(STXBP2):c.794+20G>A rs762046938 0.00001
NM_006949.4(STXBP2):c.795-16C>T rs1189996144 0.00001
NM_006949.4(STXBP2):c.795-19C>G rs777370766 0.00001
NM_006949.4(STXBP2):c.797A>G (p.Tyr266Cys) rs774131697 0.00001
NM_006949.4(STXBP2):c.799G>A (p.Glu267Lys) rs745716844 0.00001
NM_006949.4(STXBP2):c.79G>C (p.Glu27Gln) rs796488505 0.00001
NM_006949.4(STXBP2):c.817G>A (p.Glu273Lys) rs765370350 0.00001
NM_006949.4(STXBP2):c.842T>C (p.Leu281Pro) rs748802312 0.00001
NM_006949.4(STXBP2):c.87+3del rs771510137 0.00001
NM_006949.4(STXBP2):c.875G>A (p.Arg292His) rs746897867 0.00001
NM_006949.4(STXBP2):c.879C>T (p.His293=) rs1237529379 0.00001
NM_006949.4(STXBP2):c.88-11C>T rs1355022750 0.00001
NM_006949.4(STXBP2):c.888C>T (p.Ile296=) rs1350527680 0.00001
NM_006949.4(STXBP2):c.902+17A>G rs2031935447 0.00001
NM_006949.4(STXBP2):c.902+4C>T rs1349313045 0.00001
NM_006949.4(STXBP2):c.903-19C>T rs762417426 0.00001
NM_006949.4(STXBP2):c.912G>A (p.Thr304=) rs781242568 0.00001
NM_006949.4(STXBP2):c.938G>A (p.Ser313Asn) rs775739579 0.00001
NM_006949.4(STXBP2):c.939C>A (p.Ser313Arg) rs2031948474 0.00001
NM_006949.4(STXBP2):c.943A>G (p.Arg315Gly) rs747344322 0.00001
NM_006949.4(STXBP2):c.960+14C>G rs1322085165 0.00001
NM_006949.4(STXBP2):c.960+15A>C rs766105847 0.00001
NM_006949.4(STXBP2):c.962C>T (p.Ala321Val) rs753737127 0.00001
NM_012388.4(BLOC1S6):c.103G>A (p.Asp35Asn) rs149605903 0.00001
NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val) rs779791657 0.00001
NM_012388.4(BLOC1S6):c.144A>T (p.Ala48=) rs372182517 0.00001
NM_012388.4(BLOC1S6):c.182T>G (p.Leu61Trp) rs1048656816 0.00001
NM_012388.4(BLOC1S6):c.186A>G (p.Pro62=) rs1209687570 0.00001
NM_012388.4(BLOC1S6):c.224+11A>G rs777210501 0.00001
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482 0.00001
NM_012388.4(BLOC1S6):c.264G>A (p.Glu88=) rs761723925 0.00001
NM_012388.4(BLOC1S6):c.282A>G (p.Glu94=) rs774700428 0.00001
NM_012388.4(BLOC1S6):c.313-9C>T rs765107661 0.00001
NM_012388.4(BLOC1S6):c.319G>A (p.Glu107Lys) rs1427586266 0.00001
NM_012388.4(BLOC1S6):c.335dup (p.His112fs) rs762974622 0.00001
NM_012388.4(BLOC1S6):c.350A>G (p.Asn117Ser) rs1230644464 0.00001
NM_012388.4(BLOC1S6):c.421C>T (p.Gln141Ter) rs759015758 0.00001
NM_012388.4(BLOC1S6):c.500G>C (p.Arg167Thr) rs770901442 0.00001
NM_012388.4(BLOC1S6):c.508A>G (p.Lys170Glu) rs760751818 0.00001
NM_012388.4(BLOC1S6):c.69G>A (p.Gly23=) rs774804135 0.00001
NM_012388.4(BLOC1S6):c.75G>A (p.Pro25=) rs1342184206 0.00001
NM_012388.4(BLOC1S6):c.82+8C>G rs1386198190 0.00001
NM_018344.6(SLC29A3):c.1006G>A (p.Gly336Ser) rs769377761 0.00001
NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln) rs387907066 0.00001
NM_018344.6(SLC29A3):c.10G>A (p.Val4Ile) rs202128882 0.00001
NM_018344.6(SLC29A3):c.111C>T (p.Asp37=) rs773183035 0.00001
NM_018344.6(SLC29A3):c.1157G>A (p.Arg386Gln) rs397515429 0.00001
NM_018344.6(SLC29A3):c.116C>T (p.Pro39Leu) rs368939297 0.00001
NM_018344.6(SLC29A3):c.1206C>T (p.Val402=) rs766571695 0.00001
NM_018344.6(SLC29A3):c.1233C>T (p.Ser411=) rs756751578 0.00001
NM_018344.6(SLC29A3):c.1235A>G (p.Asp412Gly) rs771819865 0.00001
NM_018344.6(SLC29A3):c.1243C>G (p.Pro415Ala) rs776729312 0.00001
NM_018344.6(SLC29A3):c.1278C>T (p.Asn426=) rs764543735 0.00001
NM_018344.6(SLC29A3):c.1307A>G (p.Tyr436Cys) rs746754933 0.00001
NM_018344.6(SLC29A3):c.1346C>T (p.Thr449Met) rs267607058 0.00001
NM_018344.6(SLC29A3):c.138C>T (p.Pro46=) rs374417695 0.00001
NM_018344.6(SLC29A3):c.144C>T (p.Asp48=) rs1845883638 0.00001
NM_018344.6(SLC29A3):c.148T>C (p.Phe50Leu) rs769621228 0.00001
NM_018344.6(SLC29A3):c.165C>T (p.Ile55=) rs1845884793 0.00001
NM_018344.6(SLC29A3):c.193C>T (p.Leu65=) rs377119158 0.00001
NM_018344.6(SLC29A3):c.242A>G (p.Lys81Arg) rs1470448032 0.00001
NM_018344.6(SLC29A3):c.252C>G (p.Asn84Lys) rs749057267 0.00001
NM_018344.6(SLC29A3):c.300+1G>A rs587780463 0.00001
NM_018344.6(SLC29A3):c.324C>T (p.Ala108=) rs753440225 0.00001
NM_018344.6(SLC29A3):c.384-10C>T rs772475005 0.00001
NM_018344.6(SLC29A3):c.384-17T>A rs1846758379 0.00001
NM_018344.6(SLC29A3):c.395A>G (p.His132Arg) rs777204470 0.00001
NM_018344.6(SLC29A3):c.418A>G (p.Thr140Ala) rs1412934119 0.00001
NM_018344.6(SLC29A3):c.431C>G (p.Ala144Gly) rs751289697 0.00001
NM_018344.6(SLC29A3):c.454C>T (p.Leu152=) rs377174282 0.00001
NM_018344.6(SLC29A3):c.465G>A (p.Val155=) rs746005698 0.00001
NM_018344.6(SLC29A3):c.508G>C (p.Val170Leu) rs767315806 0.00001
NM_018344.6(SLC29A3):c.529G>A (p.Gly177Ser) rs751857525 0.00001
NM_018344.6(SLC29A3):c.530G>A (p.Gly177Asp) rs1013295413 0.00001
NM_018344.6(SLC29A3):c.571G>A (p.Gly191Ser) rs770328093 0.00001
NM_018344.6(SLC29A3):c.587G>A (p.Arg196Lys) rs142951844 0.00001
NM_018344.6(SLC29A3):c.590A>G (p.Asn197Ser) rs367979437 0.00001
NM_018344.6(SLC29A3):c.591C>T (p.Asn197=) rs1369949983 0.00001
NM_018344.6(SLC29A3):c.59C>G (p.Thr20Arg) rs754138983 0.00001
NM_018344.6(SLC29A3):c.607T>C (p.Ser203Pro) rs397514626 0.00001
NM_018344.6(SLC29A3):c.610+1G>A rs1166563034 0.00001
NM_018344.6(SLC29A3):c.610+20C>A rs756459745 0.00001
NM_018344.6(SLC29A3):c.611-13C>G rs1436636899 0.00001
NM_018344.6(SLC29A3):c.624C>T (p.Gly208=) rs757865136 0.00001
NM_018344.6(SLC29A3):c.699C>T (p.Phe233=) rs769743060 0.00001
NM_018344.6(SLC29A3):c.700T>C (p.Phe234Leu) rs147015207 0.00001
NM_018344.6(SLC29A3):c.717C>T (p.Val239=) rs765482832 0.00001
NM_018344.6(SLC29A3):c.723C>T (p.Leu241=) rs763353584 0.00001
NM_018344.6(SLC29A3):c.737G>A (p.Gly246Glu) rs1767630986 0.00001
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) rs746408350 0.00001
NM_018344.6(SLC29A3):c.774-13C>T rs763377973 0.00001
NM_018344.6(SLC29A3):c.782T>C (p.Met261Thr) rs963639698 0.00001
NM_018344.6(SLC29A3):c.797C>T (p.Ala266Val) rs142991278 0.00001
NM_018344.6(SLC29A3):c.7G>A (p.Val3Ile) rs774843880 0.00001
NM_018344.6(SLC29A3):c.804T>C (p.His268=) rs896755457 0.00001
NM_018344.6(SLC29A3):c.854C>T (p.Ser285Leu) rs773495153 0.00001
NM_018344.6(SLC29A3):c.872T>C (p.Ile291Thr) rs763608414 0.00001
NM_018344.6(SLC29A3):c.896G>A (p.Arg299His) rs371038814 0.00001
NM_018344.6(SLC29A3):c.89C>T (p.Ala30Val) rs564350775 0.00001
NM_018344.6(SLC29A3):c.902T>A (p.Ile301Asn) rs1307741029 0.00001
NM_018344.6(SLC29A3):c.920G>A (p.Ser307Asn) rs556688985 0.00001
NM_018344.6(SLC29A3):c.981C>T (p.Cys327=) rs144433073 0.00001
NM_032638.5(GATA2):c.1017+512C>T rs890419135 0.00001
NM_032638.5(GATA2):c.1017+513G>A rs948289045 0.00001
NM_032638.5(GATA2):c.1017+582G>C rs1296477757 0.00001
NM_032638.5(GATA2):c.1017+645C>T rs1262949280 0.00001
NM_032638.5(GATA2):c.1017+9G>A rs753634658 0.00001
NM_032638.5(GATA2):c.1018-10G>A rs1211623638 0.00001
NM_032638.5(GATA2):c.1019C>T (p.Ser340Leu) rs745439347 0.00001
NM_032638.5(GATA2):c.1020G>A (p.Ser340=) rs370166358 0.00001
NM_032638.5(GATA2):c.1023C>T (p.Ala341=) rs376360090 0.00001
NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr) rs751285156 0.00001
NM_032638.5(GATA2):c.1025C>T (p.Ala342Val) rs143554523 0.00001
NM_032638.5(GATA2):c.1027A>C (p.Arg343=) rs1313081073 0.00001
NM_032638.5(GATA2):c.1029A>G (p.Arg343=) rs1415762927 0.00001
NM_032638.5(GATA2):c.1038C>T (p.Gly346=) rs1175250743 0.00001
NM_032638.5(GATA2):c.1050A>C (p.Ala350=) rs2068634882 0.00001
NM_032638.5(GATA2):c.1062G>A (p.Thr354=) rs759487569 0.00001
NM_032638.5(GATA2):c.106C>G (p.Pro36Ala) rs1348109698 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_032638.5(GATA2):c.1090G>A (p.Ala364Thr) rs766504293 0.00001
NM_032638.5(GATA2):c.1096G>A (p.Gly366Arg) rs758912342 0.00001
NM_032638.5(GATA2):c.1113C>T (p.Asn371=) rs376003468 0.00001
NM_032638.5(GATA2):c.1119T>C (p.Cys373=) rs1158634802 0.00001
NM_032638.5(GATA2):c.1128C>T (p.Tyr376=) rs750890699 0.00001
NM_032638.5(GATA2):c.1143+13C>T rs112111696 0.00001
NM_032638.5(GATA2):c.1143+17C>T rs766239005 0.00001
NM_032638.5(GATA2):c.1144-10T>C rs1060503830 0.00001
NM_032638.5(GATA2):c.1144-14G>A rs545512377 0.00001
NM_032638.5(GATA2):c.1160C>A (p.Thr387Asn) rs1060500092 0.00001
NM_032638.5(GATA2):c.1170G>A (p.Lys390=) rs765884493 0.00001
NM_032638.5(GATA2):c.1179C>G (p.Ile393Met) rs1553770437 0.00001
NM_032638.5(GATA2):c.1185T>C (p.Thr395=) rs771739064 0.00001
NM_032638.5(GATA2):c.1217A>T (p.Lys406Met) rs756096688 0.00001
NM_032638.5(GATA2):c.1230G>T (p.Gly410=) rs1461907039 0.00001
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val) rs374457534 0.00001
NM_032638.5(GATA2):c.123T>C (p.Pro41=) rs1022734850 0.00001
NM_032638.5(GATA2):c.1312G>T (p.Ala438Ser) rs768399393 0.00001
NM_032638.5(GATA2):c.1318G>A (p.Val440Met) rs1126559 0.00001
NM_032638.5(GATA2):c.1323C>T (p.Gly441=) rs1280205763 0.00001
NM_032638.5(GATA2):c.1326C>T (p.His442=) rs886057929 0.00001
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg) rs370164300 0.00001
NM_032638.5(GATA2):c.1368G>A (p.Pro456=) rs569990126 0.00001
NM_032638.5(GATA2):c.136G>A (p.Asp46Asn) rs370750401 0.00001
NM_032638.5(GATA2):c.1376T>A (p.Ile459Asn) rs369407958 0.00001
NM_032638.5(GATA2):c.1380C>T (p.His460=) rs1033366779 0.00001
NM_032638.5(GATA2):c.1381C>T (p.Pro461Ser) rs1238679450 0.00001
NM_032638.5(GATA2):c.138C>T (p.Asp46=) rs1461011049 0.00001
NM_032638.5(GATA2):c.1402G>A (p.Gly468Ser) rs777726701 0.00001
NM_032638.5(GATA2):c.1407C>T (p.His469=) rs772050518 0.00001
NM_032638.5(GATA2):c.162G>T (p.Ser54=) rs758797691 0.00001
NM_032638.5(GATA2):c.174C>A (p.Pro58=) rs112460453 0.00001
NM_032638.5(GATA2):c.182C>T (p.Ala61Val) rs375349195 0.00001
NM_032638.5(GATA2):c.183C>T (p.Ala61=) rs1304934410 0.00001
NM_032638.5(GATA2):c.186C>G (p.Asn62Lys) rs751200779 0.00001
NM_032638.5(GATA2):c.188C>G (p.Pro63Arg) rs1576749724 0.00001
NM_032638.5(GATA2):c.190G>A (p.Ala64Thr) rs370831063 0.00001
NM_032638.5(GATA2):c.201G>A (p.Arg67=) rs775407905 0.00001
NM_032638.5(GATA2):c.204G>T (p.Ala68=) rs886057932 0.00001
NM_032638.5(GATA2):c.208G>T (p.Val70Phe) rs570531959 0.00001
NM_032638.5(GATA2):c.216C>T (p.Tyr72=) rs1254938356 0.00001
NM_032638.5(GATA2):c.224C>T (p.Ala75Val) rs1559987952 0.00001
NM_032638.5(GATA2):c.229+13C>T rs772223899 0.00001
NM_032638.5(GATA2):c.229+8C>T rs773314778 0.00001
NM_032638.5(GATA2):c.230-18C>T rs937505737 0.00001
NM_032638.5(GATA2):c.235C>G (p.Leu79Val) rs1476440293 0.00001
NM_032638.5(GATA2):c.248A>C (p.Gln83Pro) rs1426636606 0.00001
NM_032638.5(GATA2):c.267G>A (p.Leu89=) rs1215753828 0.00001
NM_032638.5(GATA2):c.297C>G (p.Asp99Glu) rs1411693599 0.00001
NM_032638.5(GATA2):c.298G>C (p.Gly100Arg) rs1417506136 0.00001
NM_032638.5(GATA2):c.303C>T (p.Gly101=) rs1399106413 0.00001
NM_032638.5(GATA2):c.311C>T (p.Ala104Val) rs760660470 0.00001
NM_032638.5(GATA2):c.31A>G (p.Met11Val) rs774005466 0.00001
NM_032638.5(GATA2):c.321C>T (p.Ala107=) rs767565810 0.00001
NM_032638.5(GATA2):c.327G>A (p.Ala109=) rs373506586 0.00001
NM_032638.5(GATA2):c.336C>G (p.His112Gln) rs2068697916 0.00001
NM_032638.5(GATA2):c.371C>A (p.Thr124Lys) rs569301892 0.00001
NM_032638.5(GATA2):c.371C>T (p.Thr124Met) rs569301892 0.00001
NM_032638.5(GATA2):c.372G>A (p.Thr124=) rs1462031219 0.00001
NM_032638.5(GATA2):c.379C>T (p.His127Tyr) rs1163426216 0.00001
NM_032638.5(GATA2):c.399C>T (p.Gly133=) rs1231963924 0.00001
NM_032638.5(GATA2):c.402T>C (p.Pro134=) rs1469437295 0.00001
NM_032638.5(GATA2):c.405A>G (p.Gly135=) rs1271153635 0.00001
NM_032638.5(GATA2):c.408C>T (p.Gly136=) rs2068696629 0.00001
NM_032638.5(GATA2):c.409C>T (p.Pro137Ser) rs113166293 0.00001
NM_032638.5(GATA2):c.40C>T (p.Pro14Ser) rs749214277 0.00001
NM_032638.5(GATA2):c.411A>G (p.Pro137=) rs1286155488 0.00001
NM_032638.5(GATA2):c.423C>T (p.Tyr141=) rs781744898 0.00001
NM_032638.5(GATA2):c.425C>T (p.Pro142Leu) rs1308814048 0.00001
NM_032638.5(GATA2):c.429G>A (p.Gly143=) rs1428333141 0.00001
NM_032638.5(GATA2):c.432T>G (p.Ala144=) rs1324429118 0.00001
NM_032638.5(GATA2):c.442A>G (p.Ser148Gly) rs1161655427 0.00001
NM_032638.5(GATA2):c.460A>G (p.Ser154Gly) rs1559987448 0.00001
NM_032638.5(GATA2):c.465A>G (p.Ser155=) rs1029991239 0.00001
NM_032638.5(GATA2):c.487G>A (p.Ala163Thr) rs897072411 0.00001
NM_032638.5(GATA2):c.492C>A (p.Ala164=) rs1363204381 0.00001
NM_032638.5(GATA2):c.497C>G (p.Ser166Cys) rs777283796 0.00001
NM_032638.5(GATA2):c.498T>C (p.Ser166=) rs771508025 0.00001
NM_032638.5(GATA2):c.502T>G (p.Ser168Ala) rs377261969 0.00001
NM_032638.5(GATA2):c.515G>C (p.Gly172Ala) rs768236530 0.00001
NM_032638.5(GATA2):c.516C>T (p.Gly172=) rs1421505635 0.00001
NM_032638.5(GATA2):c.532C>T (p.Pro178Ser) rs757177579 0.00001
NM_032638.5(GATA2):c.536A>G (p.Lys179Arg) rs751678435 0.00001
NM_032638.5(GATA2):c.537A>G (p.Lys179=) rs764211545 0.00001
NM_032638.5(GATA2):c.567G>T (p.Gly189=) rs1293644494 0.00001
NM_032638.5(GATA2):c.571G>A (p.Ala191Thr) rs1355811506 0.00001
NM_032638.5(GATA2):c.575C>T (p.Ser192Phe) rs773786765 0.00001
NM_032638.5(GATA2):c.582C>T (p.Ala194=) rs748710414 0.00001
NM_032638.5(GATA2):c.590C>A (p.Ser197Tyr) rs142693553 0.00001
NM_032638.5(GATA2):c.593C>T (p.Ala198Val) rs745726293 0.00001
NM_032638.5(GATA2):c.611G>A (p.Arg204Gln) rs1460001422 0.00001
NM_032638.5(GATA2):c.631G>C (p.Val211Leu) rs1060500088 0.00001
NM_032638.5(GATA2):c.633C>G (p.Val211=) rs375773132 0.00001
NM_032638.5(GATA2):c.64C>G (p.Pro22Ala) rs1172590651 0.00001
NM_032638.5(GATA2):c.674G>A (p.Ser225Asn) rs146116228 0.00001
NM_032638.5(GATA2):c.67G>A (p.Asp23Asn) rs760183425 0.00001
NM_032638.5(GATA2):c.680G>A (p.Ser227Asn) rs1455317777 0.00001
NM_032638.5(GATA2):c.682C>A (p.Pro228Thr) rs375298899 0.00001
NM_032638.5(GATA2):c.684C>T (p.Pro228=) rs913494641 0.00001
NM_032638.5(GATA2):c.698T>C (p.Leu233Pro) rs1377041124 0.00001
NM_032638.5(GATA2):c.707T>C (p.Met236Thr) rs61754578 0.00001
NM_032638.5(GATA2):c.723T>C (p.Ala241=) rs1158861191 0.00001
NM_032638.5(GATA2):c.724A>G (p.Thr242Ala) rs886057931 0.00001
NM_032638.5(GATA2):c.732C>G (p.His244Gln) rs954005309 0.00001
NM_032638.5(GATA2):c.753C>T (p.Ser251=) rs1450460950 0.00001
NM_032638.5(GATA2):c.756T>C (p.Tyr252=) rs750736371 0.00001
NM_032638.5(GATA2):c.762G>A (p.Pro254=) rs200504378 0.00001
NM_032638.5(GATA2):c.786C>T (p.Ser262=) rs1230448079 0.00001
NM_032638.5(GATA2):c.787G>A (p.Gly263Arg) rs587778378 0.00001
NM_032638.5(GATA2):c.815G>A (p.Gly272Glu) rs770511115 0.00001
NM_032638.5(GATA2):c.815G>C (p.Gly272Ala) rs770511115 0.00001
NM_032638.5(GATA2):c.817G>A (p.Gly273Arg) rs2068686401 0.00001
NM_032638.5(GATA2):c.832T>A (p.Phe278Ile) rs1449079964 0.00001
NM_032638.5(GATA2):c.847C>T (p.Arg283Cys) rs148024280 0.00001
NM_032638.5(GATA2):c.856G>A (p.Ala286Thr) rs1443864030 0.00001
NM_032638.5(GATA2):c.867T>C (p.Cys289=) rs756397780 0.00001
NM_032638.5(GATA2):c.872-8C>T rs758903954 0.00001
NM_032638.5(GATA2):c.88G>A (p.Ala30Thr) rs774249703 0.00001
NM_032638.5(GATA2):c.8T>C (p.Val3Ala) rs1220018679 0.00001
NM_032638.5(GATA2):c.90G>C (p.Ala30=) rs768357019 0.00001
NM_032638.5(GATA2):c.928G>A (p.Gly310Ser) rs1262581730 0.00001
NM_032638.5(GATA2):c.92A>T (p.His31Leu) rs1225259829 0.00001
NM_032638.5(GATA2):c.937C>T (p.His313Tyr) rs2068661887 0.00001
NM_032638.5(GATA2):c.960C>T (p.Gly320=) rs762957000 0.00001
NM_032638.5(GATA2):c.966C>T (p.Tyr322=) rs775516037 0.00001
NM_032638.5(GATA2):c.971A>G (p.Lys324Arg) rs1480450110 0.00001
NM_032638.5(GATA2):c.996C>T (p.Leu332=) rs745893125 0.00001
NM_032638.5(GATA2):c.999C>T (p.Ile333=) rs886072363 0.00001
NM_183235.3(RAB27A):c.126G>A (p.Val42=) rs1356387047 0.00001
NM_183235.3(RAB27A):c.130A>G (p.Ile44Val) rs763762181 0.00001
NM_183235.3(RAB27A):c.148A>C (p.Arg50=) rs767963780 0.00001
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673 0.00001
NM_183235.3(RAB27A):c.153+10A>G rs774986160 0.00001
NM_183235.3(RAB27A):c.153+12A>T rs770930489 0.00001
NM_183235.3(RAB27A):c.159C>T (p.Tyr53=) rs529088883 0.00001
NM_183235.3(RAB27A):c.165C>T (p.Ala55=) rs765203586 0.00001
NM_183235.3(RAB27A):c.175G>C (p.Asp59His) rs770949071 0.00001
NM_183235.3(RAB27A):c.209T>C (p.Leu70Pro) rs1371360853 0.00001
NM_183235.3(RAB27A):c.239+15G>C rs760864329 0.00001
NM_183235.3(RAB27A):c.240-5C>G rs750942183 0.00001
NM_183235.3(RAB27A):c.245G>A (p.Arg82His) rs140640177 0.00001
NM_183235.3(RAB27A):c.261G>A (p.Ala87=) rs779504249 0.00001
NM_183235.3(RAB27A):c.344-13C>G rs1171254261 0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs) rs755338751 0.00001
NM_183235.3(RAB27A):c.454G>A (p.Ala152Thr) rs104894499 0.00001
NM_183235.3(RAB27A):c.473C>G (p.Pro158Arg) rs746081723 0.00001
NM_183235.3(RAB27A):c.520A>G (p.Ile174Val) rs751121802 0.00001
NM_183235.3(RAB27A):c.596T>C (p.Val199Ala) rs778390086 0.00001
NM_183235.3(RAB27A):c.627G>C (p.Gln209His) rs776080472 0.00001
NM_183235.3(RAB27A):c.652G>A (p.Ala218Thr) rs373190916 0.00001
NM_199242.3(UNC13D):c.1018A>G (p.Thr340Ala) rs2064935031 0.00001
NM_199242.3(UNC13D):c.1019C>T (p.Thr340Ile) rs754889453 0.00001
NM_199242.3(UNC13D):c.1055+1G>A rs754205110 0.00001
NM_199242.3(UNC13D):c.1135G>A (p.Glu379Lys) rs151047555 0.00001
NM_199242.3(UNC13D):c.1183C>G (p.Leu395Val) rs1023140477 0.00001
NM_199242.3(UNC13D):c.1229_1230dup (p.Arg411fs) rs747180228 0.00001
NM_199242.3(UNC13D):c.1240C>T (p.Arg414Cys) rs750811263 0.00001
NM_199242.3(UNC13D):c.1282C>G (p.Leu428Val) rs2064910555 0.00001
NM_199242.3(UNC13D):c.1298+16C>T rs1003328910 0.00001
NM_199242.3(UNC13D):c.1390-6C>T rs376631424 0.00001
NM_199242.3(UNC13D):c.1395C>T (p.Gly465=) rs1382625659 0.00001
NM_199242.3(UNC13D):c.1413C>T (p.His471=) rs777622002 0.00001
NM_199242.3(UNC13D):c.1425G>A (p.Gln475=) rs780636406 0.00001
NM_199242.3(UNC13D):c.1519C>T (p.Arg507Cys) rs746549838 0.00001
NM_199242.3(UNC13D):c.154-12C>T rs201566360 0.00001
NM_199242.3(UNC13D):c.1544+19C>T rs752742945 0.00001
NM_199242.3(UNC13D):c.1556T>C (p.Ile519Thr) rs1402195363 0.00001
NM_199242.3(UNC13D):c.155G>A (p.Arg52Gln) rs750613531 0.00001
NM_199242.3(UNC13D):c.156G>T (p.Arg52=) rs111728477 0.00001
NM_199242.3(UNC13D):c.1587G>A (p.Leu529=) rs759125122 0.00001
NM_199242.3(UNC13D):c.1596+1G>C rs933702160 0.00001
NM_199242.3(UNC13D):c.1597-6T>A rs1456749981 0.00001
NM_199242.3(UNC13D):c.15C>T (p.Leu5=) rs751997671 0.00001
NM_199242.3(UNC13D):c.1606C>T (p.Arg536Trp) rs780530249 0.00001
NM_199242.3(UNC13D):c.1611G>A (p.Val537=) rs538427767 0.00001
NM_199242.3(UNC13D):c.1623G>C (p.Thr541=) rs977499810 0.00001
NM_199242.3(UNC13D):c.1659C>T (p.Gly553=) rs374031487 0.00001
NM_199242.3(UNC13D):c.1696C>G (p.Leu566Val) rs1302541348 0.00001
NM_199242.3(UNC13D):c.169G>A (p.Glu57Lys) rs767617631 0.00001
NM_199242.3(UNC13D):c.1708C>T (p.Arg570Cys) rs549768303 0.00001
NM_199242.3(UNC13D):c.1719C>T (p.Ser573=) rs749404402 0.00001
NM_199242.3(UNC13D):c.1721C>T (p.Ser574Leu) rs981574088 0.00001
NM_199242.3(UNC13D):c.1727+1G>A rs754882266 0.00001
NM_199242.3(UNC13D):c.1728-12G>A rs546379598 0.00001
NM_199242.3(UNC13D):c.1799C>T (p.Thr600Met) rs770859494 0.00001
NM_199242.3(UNC13D):c.1811C>T (p.Ala604Val) rs1358177458 0.00001
NM_199242.3(UNC13D):c.1841T>A (p.Met614Lys) rs139282207 0.00001
NM_199242.3(UNC13D):c.1848+8C>T rs1450744252 0.00001
NM_199242.3(UNC13D):c.1962G>C (p.Glu654Asp) rs368817708 0.00001
NM_199242.3(UNC13D):c.196C>T (p.Arg66Cys) rs996214730 0.00001
NM_199242.3(UNC13D):c.1992+19G>A rs1267327666 0.00001
NM_199242.3(UNC13D):c.2038C>T (p.Arg680Trp) rs200341276 0.00001
NM_199242.3(UNC13D):c.2091+2_2091+3dup rs778809705 0.00001
NM_199242.3(UNC13D):c.2092-9C>T rs1471072700 0.00001
NM_199242.3(UNC13D):c.2116G>C (p.Glu706Gln) rs140332182 0.00001
NM_199242.3(UNC13D):c.2148C>T (p.Pro716=) rs1431407116 0.00001
NM_199242.3(UNC13D):c.2179C>T (p.Arg727Trp) rs564709979 0.00001
NM_199242.3(UNC13D):c.2212C>T (p.Gln738Ter) rs764507196 0.00001
NM_199242.3(UNC13D):c.2220G>A (p.Thr740=) rs758676065 0.00001
NM_199242.3(UNC13D):c.2262T>C (p.His754=) rs753556309 0.00001
NM_199242.3(UNC13D):c.2293G>A (p.Glu765Lys) rs763117746 0.00001
NM_199242.3(UNC13D):c.2299-15G>T rs765565016 0.00001
NM_199242.3(UNC13D):c.231G>A (p.Glu77=) rs148672333 0.00001
NM_199242.3(UNC13D):c.2331A>G (p.Lys777=) rs1200766691 0.00001
NM_199242.3(UNC13D):c.2367+10C>T rs750548560 0.00001
NM_199242.3(UNC13D):c.2370C>T (p.Ala790=) rs747428323 0.00001
NM_199242.3(UNC13D):c.2377C>T (p.Pro793Ser) rs772555038 0.00001
NM_199242.3(UNC13D):c.2383A>T (p.Met795Leu) rs1385939686 0.00001
NM_199242.3(UNC13D):c.23C>T (p.Pro8Leu) rs766811197 0.00001
NM_199242.3(UNC13D):c.2411A>G (p.Tyr804Cys) rs1316684824 0.00001
NM_199242.3(UNC13D):c.2421C>T (p.Thr807=) rs1333852596 0.00001
NM_199242.3(UNC13D):c.2447+1G>A rs1165696705 0.00001
NM_199242.3(UNC13D):c.2448-14C>T rs757075933 0.00001
NM_199242.3(UNC13D):c.248G>A (p.Arg83Gln) rs143944122 0.00001
NM_199242.3(UNC13D):c.2500G>A (p.Ala834Thr) rs748256131 0.00001
NM_199242.3(UNC13D):c.2556C>T (p.Asn852=) rs564380873 0.00001
NM_199242.3(UNC13D):c.2557C>A (p.Leu853Met) rs1457768794 0.00001
NM_199242.3(UNC13D):c.2574C>T (p.His858=) rs17496835 0.00001
NM_199242.3(UNC13D):c.258G>A (p.Gln86=) rs757537508 0.00001
NM_199242.3(UNC13D):c.2618C>T (p.Thr873Ile) rs1322992956 0.00001
NM_199242.3(UNC13D):c.262-18C>T rs374868516 0.00001
NM_199242.3(UNC13D):c.262-20C>G rs368003349 0.00001
NM_199242.3(UNC13D):c.2625+8del rs1234318763 0.00001
NM_199242.3(UNC13D):c.2637G>A (p.Arg879=) rs1372708758 0.00001
NM_199242.3(UNC13D):c.2666G>A (p.Arg889Gln) rs371000216 0.00001
NM_199242.3(UNC13D):c.2672T>C (p.Leu891Pro) rs1359661881 0.00001
NM_199242.3(UNC13D):c.2677C>T (p.Arg893Trp) rs886412971 0.00001
NM_199242.3(UNC13D):c.2678G>A (p.Arg893Gln) rs759502435 0.00001
NM_199242.3(UNC13D):c.2679G>C (p.Arg893=) rs1011534388 0.00001
NM_199242.3(UNC13D):c.2695C>T (p.Arg899Ter) rs766657895 0.00001
NM_199242.3(UNC13D):c.2754C>G (p.Ala918=) rs1217118688 0.00001
NM_199242.3(UNC13D):c.2756C>T (p.Ser919Phe) rs748410297 0.00001
NM_199242.3(UNC13D):c.2795T>C (p.Leu932Pro) rs760552006 0.00001
NM_199242.3(UNC13D):c.2800G>A (p.Ala934Thr) rs534473771 0.00001
NM_199242.3(UNC13D):c.2830+14G>A rs750433063 0.00001
NM_199242.3(UNC13D):c.2830+2del rs1287388302 0.00001
NM_199242.3(UNC13D):c.2831-19C>A rs369860531 0.00001
NM_199242.3(UNC13D):c.2851C>T (p.Gln951Ter) rs2064860460 0.00001
NM_199242.3(UNC13D):c.2862G>A (p.Leu954=) rs777951171 0.00001
NM_199242.3(UNC13D):c.2953T>C (p.Phe985Leu) rs775943310 0.00001
NM_199242.3(UNC13D):c.2954+20C>T rs1339152500 0.00001
NM_199242.3(UNC13D):c.2955-18C>A rs758204874 0.00001
NM_199242.3(UNC13D):c.2955-4G>A rs760466426 0.00001
NM_199242.3(UNC13D):c.2955-5C>T rs201791093 0.00001
NM_199242.3(UNC13D):c.2958G>A (p.Leu986=) rs1276293925 0.00001
NM_199242.3(UNC13D):c.2968G>A (p.Glu990Lys) rs1157428482 0.00001
NM_199242.3(UNC13D):c.2977C>T (p.Arg993Cys) rs759922688 0.00001
NM_199242.3(UNC13D):c.3011T>C (p.Leu1004Pro) rs371940934 0.00001
NM_199242.3(UNC13D):c.3013G>C (p.Asp1005His) rs745623386 0.00001
NM_199242.3(UNC13D):c.3023C>T (p.Thr1008Met) rs777496354 0.00001
NM_199242.3(UNC13D):c.304C>T (p.Arg102Trp) rs749533827 0.00001
NM_199242.3(UNC13D):c.305G>A (p.Arg102Gln) rs778208597 0.00001
NM_199242.3(UNC13D):c.3077C>G (p.Pro1026Arg) rs765680080 0.00001
NM_199242.3(UNC13D):c.3079G>A (p.Gly1027Arg) rs776703437 0.00001
NM_199242.3(UNC13D):c.3084G>C (p.Leu1028=) rs368577676 0.00001
NM_199242.3(UNC13D):c.3127C>T (p.Pro1043Ser) rs780811495 0.00001
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=) rs866899109 0.00001
NM_199242.3(UNC13D):c.3150C>T (p.Asn1050=) rs764279026 0.00001
NM_199242.3(UNC13D):c.3152-5C>T rs564198879 0.00001
NM_199242.3(UNC13D):c.3158C>T (p.Pro1053Leu) rs2062136435 0.00001
NM_199242.3(UNC13D):c.3173T>C (p.Leu1058Pro) rs1278701043 0.00001
NM_199242.3(UNC13D):c.3181C>T (p.Arg1061Trp) rs1380958280 0.00001
NM_199242.3(UNC13D):c.3204_3206del (p.Gln1068_Val1069delinsHis) rs1219204037 0.00001
NM_199242.3(UNC13D):c.322-8C>T rs769142756 0.00001
NM_199242.3(UNC13D):c.3220C>T (p.Arg1074Trp) rs749580256 0.00001
NM_199242.3(UNC13D):c.328A>G (p.Ile110Val) rs547919091 0.00001
NM_199242.3(UNC13D):c.334T>C (p.Cys112Arg) rs771709162 0.00001
NM_199242.3(UNC13D):c.419T>C (p.Ile140Thr) rs1181554837 0.00001
NM_199242.3(UNC13D):c.455G>A (p.Gly152Glu) rs774159498 0.00001
NM_199242.3(UNC13D):c.461G>A (p.Arg154Gln) rs772954576 0.00001
NM_199242.3(UNC13D):c.47G>A (p.Arg16His) rs149195431 0.00001
NM_199242.3(UNC13D):c.498C>T (p.Pro166=) rs201410236 0.00001
NM_199242.3(UNC13D):c.518C>T (p.Thr173Met) rs775835680 0.00001
NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter) rs1157287613 0.00001
NM_199242.3(UNC13D):c.523G>T (p.Val175Phe) rs768225300 0.00001
NM_199242.3(UNC13D):c.560C>G (p.Thr187Ser) rs563841795 0.00001
NM_199242.3(UNC13D):c.569+11G>A rs746068656 0.00001
NM_199242.3(UNC13D):c.569+5G>A rs765034513 0.00001
NM_199242.3(UNC13D):c.569+9C>T rs761672422 0.00001
NM_199242.3(UNC13D):c.594G>A (p.Ala198=) rs755967157 0.00001
NM_199242.3(UNC13D):c.614+10C>T rs766943969 0.00001
NM_199242.3(UNC13D):c.614+1G>T rs866629962 0.00001
NM_199242.3(UNC13D):c.615-3C>T rs1319687389 0.00001
NM_199242.3(UNC13D):c.615-4C>T rs368252536 0.00001
NM_199242.3(UNC13D):c.627T>C (p.Thr209=) rs764862990 0.00001
NM_199242.3(UNC13D):c.634T>G (p.Ser212Ala) rs1415407939 0.00001
NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter) rs769243366 0.00001
NM_199242.3(UNC13D):c.652G>T (p.Gly218Trp) rs775666284 0.00001
NM_199242.3(UNC13D):c.681C>T (p.Arg227=) rs779543680 0.00001
NM_199242.3(UNC13D):c.683+7G>A rs200456374 0.00001
NM_199242.3(UNC13D):c.6G>A (p.Ala2=) rs767266346 0.00001
NM_199242.3(UNC13D):c.700C>T (p.Arg234Trp) rs1194073667 0.00001
NM_199242.3(UNC13D):c.754-17G>A rs780473660 0.00001
NM_199242.3(UNC13D):c.754-1G>C rs753990040 0.00001
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys) rs558726483 0.00001
NM_199242.3(UNC13D):c.796C>T (p.Arg266Cys) rs781047872 0.00001
NM_199242.3(UNC13D):c.801T>G (p.Thr267=) rs780425175 0.00001
NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter) rs201589664 0.00001
NM_199242.3(UNC13D):c.818G>A (p.Arg273Gln) rs764351769 0.00001
NM_199242.3(UNC13D):c.858+8G>A rs746620594 0.00001
NM_199242.3(UNC13D):c.859del (p.Arg287fs) rs2064937140 0.00001
NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu) rs202020396 0.00001
NM_199242.3(UNC13D):c.882G>A (p.Ser294=) rs760286447 0.00001
NM_199242.3(UNC13D):c.918G>A (p.Gln306=) rs768944993 0.00001
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter) rs747169857 0.00001
NM_199242.3(UNC13D):c.929C>T (p.Ser310Phe) rs757125102 0.00001
NM_199242.3(UNC13D):c.953C>T (p.Ala318Val) rs1387995062 0.00001
NM_199242.3(UNC13D):c.954G>A (p.Ala318=) rs751058445 0.00001
NM_199242.3(UNC13D):c.978G>A (p.Ser326=) rs533811160 0.00001
NM_199242.3(UNC13D):c.9A>T (p.Thr3=) rs376902386 0.00001
NC_000001.10:g.(?_155581953)_(155880552_?)del
NC_000001.10:g.(?_155870159)_(155880696_?)dup
NC_000001.10:g.(?_155870179)_(155874615_?)dup
NC_000001.10:g.(?_155870179)_(155880552_?)dup
NC_000001.10:g.(?_155874092)_(155880686_?)dup
NC_000001.10:g.(?_155877093)_(155880300_?)del
NC_000001.10:g.(?_155880221)_(156109650_?)del
NC_000001.10:g.(?_235275379)_(236899040_?)del
NC_000001.10:g.(?_235543365)_(235922919_?)del
NC_000001.10:g.(?_235613501)_(235827941_?)dup
NC_000001.10:g.(?_235826240)_(235945407_?)dup
NC_000001.10:g.(?_235826240)_(235976381_?)del
NC_000001.10:g.(?_235827745)_(235827941_?)del
NC_000001.10:g.(?_235840371)_(235860592_?)del
NC_000001.10:g.(?_235850229)_(235860592_?)del
NC_000001.10:g.(?_235850229)_(235872628_?)del
NC_000001.10:g.(?_235850329)_(235858090_?)del
NC_000001.10:g.(?_235937122)_(235944375_?)del
NC_000001.10:g.(?_235950490)_(235964407_?)dup
NC_000001.11:g.(?_235662920)_(235782107_?)del
NC_000003.11:g.(?_126707437)_(130720194_?)dup
NC_000003.11:g.(?_127771396)_(128205874_?)del
NC_000003.11:g.(?_128198104)_(128205221_?)dup
NC_000003.11:g.(?_128198104)_(128205874_?)dup
NC_000003.11:g.(?_128199862)_(128205874_?)dup
NC_000003.11:g.(?_128202693)_(128205884_?)dup
NC_000003.12:g.(?_128479422)_(128487076_?)del
NC_000003.12:g.(?_128480999)_(128912627_?)del
NC_000003.12:g.(?_128481009)_(128487041_?)dup
NC_000003.12:g.(?_128486793)_(128487041_?)del
NC_000003.12:g.128479261G>A
NC_000003.12:g.128481319del
NC_000005.10:g.(?_78020672)_(78089519_?)del
NC_000005.10:g.(?_78089373)_(78141339_?)del
NC_000005.9:g.(?_76115008)_(78281071_?)del
NC_000005.9:g.(?_77471430)_(77477506_?)del
NC_000005.9:g.(?_77536666)_(77590423_?)dup
NC_000005.9:g.(?_77590256)_(77590403_?)del
NC_000006.11:g.(?_143772160)_(144508648_?)del
NC_000006.12:g.(?_144186608)_(144187511_?)del
NC_000007.13:g.(?_102937907)_(103151472_?)dup
NC_000007.13:g.(?_102937907)_(103629803_?)del
NC_000007.13:g.(?_103196019)_(103206706_?)del
NC_000007.13:g.(?_103389853)_(103474139_?)del
NC_000007.13:g.(?_103629558)_(103629803_?)del
NC_000007.14:g.(?_103589576)_(103610827_?)dup
NC_000010.10:g.(?_72179670)_(72360658_?)dup
NC_000010.10:g.(?_72357643)_(72358951_?)del
NC_000010.10:g.(?_72357809)_(72360658_?)dup
NC_000010.10:g.(?_73079047)_(73079087_?)del
NC_000010.10:g.(?_73079047)_(73082831_?)dup
NC_000010.10:g.(?_73079067)_(73082831_?)dup
NC_000010.10:g.(?_73103946)_(73104068_?)del
NC_000010.10:g.(?_73111299)_(73122365_?)del
NC_000010.10:g.(?_73115818)_(73116020_?)del
NC_000010.10:g.(?_73121691)_(73122365_?)del
NC_000010.11:g.(?_70598033)_(70600922_?)del
NC_000011.10:g.6390221_6390884del
NC_000011.9:g.(?_6404342)_(6413015_?)del
NC_000011.9:g.(?_6411829)_(6415837_?)dup
NC_000014.8:g.(?_50585062)_(50585591_?)del
NC_000014.8:g.(?_50596659)_(50606797_?)dup
NC_000014.8:g.(?_50626129)_(50628347_?)del
NC_000014.8:g.(?_50641152)_(50778868_?)dup
NC_000014.8:g.(?_50649161)_(50655438_?)dup
NC_000014.8:g.(?_50655195)_(50655438_?)dup
NC_000014.8:g.(?_50697895)_(51288774_?)dup
NC_000014.8:g.(?_74946967)_(74947492_?)del
NC_000014.8:g.(?_74951108)_(74953149_?)del
NC_000014.8:g.(?_74959886)_(74959987_?)del
NC_000014.9:g.(?_50188487)_(50204419_?)dup
NC_000014.9:g.(?_74480254)_(74486456_?)del
NC_000014.9:g.(?_74480264)_(74493284_?)del
NC_000015.10:g.(?_55223869)_(55224032_?)del
NC_000015.10:g.(?_55223869)_(55234954_?)del
NC_000015.10:g.(?_55228589)_(55234954_?)del
NC_000015.10:g.(?_55234762)_(55234954_?)del
NC_000015.10:g.45592135del
NC_000015.10:g.55224013del
NC_000015.9:g.(?_45879642)_(45898712_?)dup
NC_000015.9:g.(?_45884313)_(45898712_?)del
NC_000015.9:g.(?_55497685)_(55527152_?)del
NC_000015.9:g.(?_55497685)_(55527152_?)dup
NC_000015.9:g.(?_55497705)_(55727276_?)dup
NC_000015.9:g.(?_55520787)_(55522704_?)del
NC_000015.9:g.(?_55522579)_(55522704_?)del
NC_000015.9:g.(?_55526960)_(55613608_?)del
NC_000015.9:g.(?_75188483)_(75190081_?)del
NC_000015.9:g.(?_75189332)_(75190071_?)del
NC_000017.10:g.(?_73824026)_(73826583_?)dup
NC_000017.10:g.(?_73824046)_(73830244_?)dup
NC_000017.10:g.(?_73839091)_(73841319_?)del
NC_000017.11:g.75834356_75834365delinsTCGGACAAGGTA rs1567818219
NC_000018.10:g.23543572_23543573insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCACCAGTGTTATTTGATTTATGGAATTTTGAAACCTCTTCGGGGCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACGTTCATCTCTCTT
NC_000018.10:g.23544943_23544944insACC
NC_000018.10:g.23544944_23544945insACC
NC_000018.9:g.(?_18963480)_(21534612_?)dup
NC_000018.9:g.(?_20516815)_(21534612_?)del
NC_000018.9:g.(?_21112146)_(21166327_?)dup
NC_000018.9:g.(?_21112166)_(21153558_?)dup
NC_000018.9:g.(?_21115552)_(21120958_?)del
NC_000018.9:g.(?_21119346)_(21126312_?)del
NC_000018.9:g.(?_21132700)_(21140464_?)del
NC_000018.9:g.(?_21132700)_(21141511_?)del
NC_000018.9:g.(?_21137061)_(21166307_?)dup
NC_000018.9:g.(?_21140185)_(21166317_?)del
NC_000018.9:g.(?_21140312)_(21141981_?)del
NC_000018.9:g.(?_21148767)_(21153558_?)del
NC_000018.9:g.(?_21148777)_(21153548_?)dup
NC_000018.9:g.(?_21166241)_(21166317_?)del
NC_000018.9:g.21124907_21124908insCACC
NC_000018.9:g.21124907_21124908insCACCC
NC_000018.9:g.21124907_21124908insCCACC rs55809701
NC_000018.9:g.21124907_21124908insCCCCG rs1555634622
NC_000018.9:g.21124907_21124908insCCCG rs1555634620
NC_000018.9:g.21124907_21124908insCCCGC rs1555634620
NC_000018.9:g.21124907_21124908insCCCGCC
NC_000018.9:g.21124907_21124908insCCCT rs1555634620
NC_000018.9:g.21124907_21124908insCCCTC rs1555634620
NC_000018.9:g.21124907_21124908insCCCTCC
NC_000018.9:g.21124907_21124908insCCGC rs55809701
NC_000018.9:g.21124907_21124908insCCGCC rs55809701
NC_000018.9:g.21124907_21124908insCCT
NC_000018.9:g.21124907_21124908insCCTC rs55809701
NC_000018.9:g.21124907_21124908insCCTCC rs55809701
NC_000018.9:g.21124907_21124908insCTCC rs1555634621
NC_000018.9:g.21124907_21124908insCTCCC
NC_000019.9:g.(?_7587617)_(8373194_?)dup
NC_000019.9:g.(?_7694720)_(7712696_?)del
NC_000019.9:g.(?_7694720)_(7712696_?)dup
NC_000019.9:g.(?_7702016)_(7712716_?)dup
NC_000019.9:g.(?_7703306)_(7707110_?)del
NC_000019.9:g.(?_7706571)_(7712696_?)del
NC_000019.9:g.(?_7709480)_(7712696_?)del
NM_000081.4(LYST):c.10002T>C (p.Pro3334=)
NM_000081.4(LYST):c.10003C>T (p.Arg3335Cys)
NM_000081.4(LYST):c.10005T>G (p.Arg3335=)
NM_000081.4(LYST):c.10014C>A (p.Ile3338=)
NM_000081.4(LYST):c.10025G>A (p.Arg3342Gln)
NM_000081.4(LYST):c.10026G>A (p.Arg3342=)
NM_000081.4(LYST):c.10027C>T (p.Gln3343Ter)
NM_000081.4(LYST):c.10029G>A (p.Gln3343=)
NM_000081.4(LYST):c.10032T>C (p.Ala3344=)
NM_000081.4(LYST):c.10033C>G (p.Leu3345Val)
NM_000081.4(LYST):c.10035A>G (p.Leu3345=)
NM_000081.4(LYST):c.10046A>G (p.Tyr3349Cys)
NM_000081.4(LYST):c.10047C>T (p.Tyr3349=)
NM_000081.4(LYST):c.10056G>A (p.Gln3352=)
NM_000081.4(LYST):c.1005G>C (p.Leu335=)
NM_000081.4(LYST):c.10060A>G (p.Ile3354Val)
NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)
NM_000081.4(LYST):c.10065T>C (p.Cys3355=)
NM_000081.4(LYST):c.10072A>G (p.Ile3358Val)
NM_000081.4(LYST):c.10078T>C (p.Leu3360=)
NM_000081.4(LYST):c.10083del (p.Phe3362fs)
NM_000081.4(LYST):c.10089G>T (p.Gly3363=)
NM_000081.4(LYST):c.10091A>G (p.Tyr3364Cys)
NM_000081.4(LYST):c.100GAG[2] (p.Glu36del)
NM_000081.4(LYST):c.10101G>A (p.Lys3367=)
NM_000081.4(LYST):c.10106A>G (p.Lys3369Arg)
NM_000081.4(LYST):c.10108G>C (p.Ala3370Pro)
NM_000081.4(LYST):c.10122G>A (p.Ala3374=)
NM_000081.4(LYST):c.10123A>G (p.Ile3375Val)
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.10131T>A (p.Val3377=)
NM_000081.4(LYST):c.1013A>G (p.Asp338Gly)
NM_000081.4(LYST):c.10143+14_10143+15del
NM_000081.4(LYST):c.10143+15dup
NM_000081.4(LYST):c.10143+20C>G
NM_000081.4(LYST):c.10143+20C>T
NM_000081.4(LYST):c.10143+6T>G
NM_000081.4(LYST):c.10143+7G>A
NM_000081.4(LYST):c.10144-22_10144-19del
NM_000081.4(LYST):c.10144-4G>A
NM_000081.4(LYST):c.10144-5T>C
NM_000081.4(LYST):c.10144-6C>T
NM_000081.4(LYST):c.10144A>G (p.Thr3382Ala)
NM_000081.4(LYST):c.10146A>C (p.Thr3382=)
NM_000081.4(LYST):c.10146A>G (p.Thr3382=)
NM_000081.4(LYST):c.10153G>T (p.Gly3385Ter)
NM_000081.4(LYST):c.10159G>A (p.Asp3387Asn)
NM_000081.4(LYST):c.10170A>G (p.Ala3390=)
NM_000081.4(LYST):c.10174G>A (p.Glu3392Lys)
NM_000081.4(LYST):c.10186C>G (p.Gln3396Glu)
NM_000081.4(LYST):c.10193G>A (p.Arg3398Gln)
NM_000081.4(LYST):c.10197G>A (p.Ala3399=)
NM_000081.4(LYST):c.10197G>T (p.Ala3399=)
NM_000081.4(LYST):c.10203A>G (p.Glu3401=)
NM_000081.4(LYST):c.10206del (p.Thr3402_Met3403insTer)
NM_000081.4(LYST):c.1020T>C (p.Ser340=)
NM_000081.4(LYST):c.10211T>C (p.Ile3404Thr)
NM_000081.4(LYST):c.10230T>A (p.Thr3410=)
NM_000081.4(LYST):c.10234C>T (p.Arg3412Cys)
NM_000081.4(LYST):c.1023T>C (p.Thr341=)
NM_000081.4(LYST):c.10246C>T (p.His3416Tyr)
NM_000081.4(LYST):c.10248C>G (p.His3416Gln)
NM_000081.4(LYST):c.1024G>A (p.Ala342Thr)
NM_000081.4(LYST):c.10253C>T (p.Ala3418Val)
NM_000081.4(LYST):c.10254C>G (p.Ala3418=)
NM_000081.4(LYST):c.10254C>T (p.Ala3418=)
NM_000081.4(LYST):c.10257T>C (p.His3419=)
NM_000081.4(LYST):c.10262G>A (p.Ser3421Asn)
NM_000081.4(LYST):c.10275C>G (p.Ala3425=)
NM_000081.4(LYST):c.10283A>G (p.Asn3428Ser)
NM_000081.4(LYST):c.10284T>C (p.Asn3428=)
NM_000081.4(LYST):c.10285A>G (p.Ile3429Val)
NM_000081.4(LYST):c.10286T>C (p.Ile3429Thr)
NM_000081.4(LYST):c.10308T>C (p.Ala3436=)
NM_000081.4(LYST):c.10317G>T (p.Leu3439Phe)
NM_000081.4(LYST):c.10321G>A (p.Val3441Met)
NM_000081.4(LYST):c.10338G>A (p.Arg3446=)
NM_000081.4(LYST):c.10341G>A (p.Glu3447=)
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) rs754616030
NM_000081.4(LYST):c.10346G>A (p.Arg3449Gln)
NM_000081.4(LYST):c.10347A>T (p.Arg3449=) rs1572031961
NM_000081.4(LYST):c.10352A>G (p.Gln3451Arg)
NM_000081.4(LYST):c.10356C>G (p.Val3452=)
NM_000081.4(LYST):c.10360G>T (p.Glu3454Ter)
NM_000081.4(LYST):c.10362A>G (p.Glu3454=)
NM_000081.4(LYST):c.10366A>G (p.Thr3456Ala)
NM_000081.4(LYST):c.10370A>G (p.Tyr3457Cys)
NM_000081.4(LYST):c.10372C>A (p.Pro3458Thr)
NM_000081.4(LYST):c.10373C>A (p.Pro3458Gln)
NM_000081.4(LYST):c.10373C>T (p.Pro3458Leu)
NM_000081.4(LYST):c.10374+20A>G
NM_000081.4(LYST):c.10374+9T>C
NM_000081.4(LYST):c.10374G>A (p.Pro3458=) rs1661644862
NM_000081.4(LYST):c.10375-10_10375-8del
NM_000081.4(LYST):c.10375-13T>G
NM_000081.4(LYST):c.10375-17_10375-9dup
NM_000081.4(LYST):c.10375-20T>C
NM_000081.4(LYST):c.10375-7A>C
NM_000081.4(LYST):c.10375-7A>G
NM_000081.4(LYST):c.10375-8C>T
NM_000081.4(LYST):c.10386A>C (p.Ser3462=)
NM_000081.4(LYST):c.10386A>G (p.Ser3462=)
NM_000081.4(LYST):c.10392A>G (p.Ile3464Met)
NM_000081.4(LYST):c.10397G>C (p.Gly3466Ala)
NM_000081.4(LYST):c.10397G>T (p.Gly3466Val)
NM_000081.4(LYST):c.10401G>A (p.Leu3467=)
NM_000081.4(LYST):c.10405del (p.Trp3469fs)
NM_000081.4(LYST):c.10406G>A (p.Trp3469Ter)
NM_000081.4(LYST):c.10413A>G (p.Glu3471=)
NM_000081.4(LYST):c.10415A>T (p.Tyr3472Phe)
NM_000081.4(LYST):c.10417G>A (p.Val3473Met)
NM_000081.4(LYST):c.10425C>T (p.Ser3475=)
NM_000081.4(LYST):c.10428C>T (p.Pro3476=)
NM_000081.4(LYST):c.10430G>T (p.Ser3477Ile)
NM_000081.4(LYST):c.10431T>C (p.Ser3477=)
NM_000081.4(LYST):c.10434T>A (p.Ala3478=)
NM_000081.4(LYST):c.10435C>G (p.Pro3479Ala)
NM_000081.4(LYST):c.10435C>T (p.Pro3479Ser)
NM_000081.4(LYST):c.10444G>A (p.Val3482Met)
NM_000081.4(LYST):c.10457G>C (p.Ser3486Thr)
NM_000081.4(LYST):c.10457G>T (p.Ser3486Ile)
NM_000081.4(LYST):c.10459C>G (p.Gln3487Glu)
NM_000081.4(LYST):c.10466A>G (p.His3489Arg)
NM_000081.4(LYST):c.10467C>T (p.His3489=)
NM_000081.4(LYST):c.10468G>A (p.Gly3490Arg)
NM_000081.4(LYST):c.10470A>G (p.Gly3490=)
NM_000081.4(LYST):c.10475G>T (p.Arg3492Ile)
NM_000081.4(LYST):c.10478T>A (p.Phe3493Tyr)
NM_000081.4(LYST):c.1047T>C (p.Leu349=)
NM_000081.4(LYST):c.10480G>T (p.Gly3494Cys)
NM_000081.4(LYST):c.10483T>A (p.Ser3495Thr)
NM_000081.4(LYST):c.10492G>C (p.Ala3498Pro) rs1222770569
NM_000081.4(LYST):c.10495C>T (p.Leu3499=)
NM_000081.4(LYST):c.10500C>T (p.Pro3500=)
NM_000081.4(LYST):c.10501A>G (p.Thr3501Ala)
NM_000081.4(LYST):c.10502C>T (p.Thr3501Ile)
NM_000081.4(LYST):c.10503C>T (p.Thr3501=)
NM_000081.4(LYST):c.10508C>T (p.Ala3503Val)
NM_000081.4(LYST):c.10509A>G (p.Ala3503=)
NM_000081.4(LYST):c.1050_1058dup (p.Lys351_Leu353dup)
NM_000081.4(LYST):c.10510A>G (p.Ile3504Val)
NM_000081.4(LYST):c.10512C>A (p.Ile3504=)
NM_000081.4(LYST):c.10525C>A (p.Arg3509=)
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
NM_000081.4(LYST):c.10526G>T (p.Arg3509Leu)
NM_000081.4(LYST):c.10535G>A (p.Cys3512Tyr)
NM_000081.4(LYST):c.1053A>G (p.Lys351=)
NM_000081.4(LYST):c.10542G>C (p.Leu3514=)
NM_000081.4(LYST):c.10548A>G (p.Thr3516=)
NM_000081.4(LYST):c.10551T>C (p.Tyr3517=)
NM_000081.4(LYST):c.10560A>G (p.Glu3520=)
NM_000081.4(LYST):c.10564+12T>C
NM_000081.4(LYST):c.10564+13G>T
NM_000081.4(LYST):c.10564+14dup
NM_000081.4(LYST):c.10564+17C>T
NM_000081.4(LYST):c.10564+18G>A
NM_000081.4(LYST):c.10564+1G>T
NM_000081.4(LYST):c.10565-10_10565-8del
NM_000081.4(LYST):c.10565-15C>G
NM_000081.4(LYST):c.10565-18T>C
NM_000081.4(LYST):c.10565-20T>A
NM_000081.4(LYST):c.10565-20T>C
NM_000081.4(LYST):c.10565-20del
NM_000081.4(LYST):c.10565-6C>T
NM_000081.4(LYST):c.10565-9C>T
NM_000081.4(LYST):c.10565G>A (p.Gly3522Asp)
NM_000081.4(LYST):c.10566T>C (p.Gly3522=)
NM_000081.4(LYST):c.10568_10569del (p.Val3523fs)
NM_000081.4(LYST):c.1056T>C (p.Asn352=)
NM_000081.4(LYST):c.10576A>G (p.Met3526Val)
NM_000081.4(LYST):c.1057T>C (p.Leu353=)
NM_000081.4(LYST):c.1057T>G (p.Leu353Val)
NM_000081.4(LYST):c.10581C>G (p.Asn3527Lys)
NM_000081.4(LYST):c.10586C>T (p.Thr3529Met)
NM_000081.4(LYST):c.10587G>A (p.Thr3529=)
NM_000081.4(LYST):c.10593T>C (p.Ile3531=)
NM_000081.4(LYST):c.105G>A (p.Glu35=)
NM_000081.4(LYST):c.10601C>A (p.Ser3534Ter)
NM_000081.4(LYST):c.10602A>G (p.Ser3534=)
NM_000081.4(LYST):c.10604C>T (p.Ala3535Val)
NM_000081.4(LYST):c.10610T>G (p.Leu3537Arg)
NM_000081.4(LYST):c.10620A>T (p.Gly3540=)
NM_000081.4(LYST):c.10629T>C (p.Asp3543=)
NM_000081.4(LYST):c.10630A>G (p.Asn3544Asp)
NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter)
NM_000081.4(LYST):c.10649G>C (p.Ser3550Thr)
NM_000081.4(LYST):c.10654del (p.Gln3552fs)
NM_000081.4(LYST):c.10656A>G (p.Gln3552=)
NM_000081.4(LYST):c.1065A>G (p.Glu355=)
NM_000081.4(LYST):c.10664C>T (p.Pro3555Leu)
NM_000081.4(LYST):c.10668A>G (p.Pro3556=)
NM_000081.4(LYST):c.10669G>A (p.Val3557Ile)
NM_000081.4(LYST):c.10669G>T (p.Val3557Leu)
NM_000081.4(LYST):c.10677T>C (p.Phe3559=)
NM_000081.4(LYST):c.10683A>G (p.Gln3561=)
NM_000081.4(LYST):c.10684A>C (p.Ser3562Arg)
NM_000081.4(LYST):c.10686T>C (p.Ser3562=)
NM_000081.4(LYST):c.10691A>G (p.Gln3564Arg)
NM_000081.4(LYST):c.10692A>G (p.Gln3564=)
NM_000081.4(LYST):c.106G>T (p.Glu36Ter)
NM_000081.4(LYST):c.10700A>G (p.Gln3567Arg)
NM_000081.4(LYST):c.10701+11T>G
NM_000081.4(LYST):c.10701+15T>G
NM_000081.4(LYST):c.10701+18T>G
NM_000081.4(LYST):c.10701+20T>C
NM_000081.4(LYST):c.10701+8C>T
NM_000081.4(LYST):c.10702-12C>T
NM_000081.4(LYST):c.10702-17T>C
NM_000081.4(LYST):c.10702-18_10702-15del
NM_000081.4(LYST):c.10702-19G>A
NM_000081.4(LYST):c.10702-19G>C
NM_000081.4(LYST):c.10702-19G>T
NM_000081.4(LYST):c.10702G>C (p.Val3568Leu)
NM_000081.4(LYST):c.10705A>G (p.Thr3569Ala)
NM_000081.4(LYST):c.10708A>G (p.Ser3570Gly)
NM_000081.4(LYST):c.1071T>C (p.Leu357=)
NM_000081.4(LYST):c.10723C>T (p.Pro3575Ser)
NM_000081.4(LYST):c.10726G>A (p.Asp3576Asn)
NM_000081.4(LYST):c.10734C>G (p.Cys3578Trp)
NM_000081.4(LYST):c.1073G>C (p.Arg358Thr)
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
NM_000081.4(LYST):c.10743T>C (p.Phe3581=)
NM_000081.4(LYST):c.10744A>G (p.Thr3582Ala)
NM_000081.4(LYST):c.10749A>G (p.Gly3583=)
NM_000081.4(LYST):c.10756T>G (p.Cys3586Gly)
NM_000081.4(LYST):c.10759G>A (p.Gly3587Ser)
NM_000081.4(LYST):c.10778C>G (p.Thr3593Arg)
NM_000081.4(LYST):c.10799C>T (p.Thr3600Met)
NM_000081.4(LYST):c.1079C>G (p.Ala360Gly)
NM_000081.4(LYST):c.1079C>T (p.Ala360Val)
NM_000081.4(LYST):c.10800+11G>A
NM_000081.4(LYST):c.10800+12G>A
NM_000081.4(LYST):c.10800+14T>A
NM_000081.4(LYST):c.10801-10A>T
NM_000081.4(LYST):c.10801-19C>A
NM_000081.4(LYST):c.10801-19_10801-16del
NM_000081.4(LYST):c.10801-20A>T
NM_000081.4(LYST):c.10801-7A>C
NM_000081.4(LYST):c.10816A>T (p.Met3606Leu)
NM_000081.4(LYST):c.10817T>C (p.Met3606Thr)
NM_000081.4(LYST):c.10821G>A (p.Glu3607=)
NM_000081.4(LYST):c.10822A>G (p.Thr3608Ala)
NM_000081.4(LYST):c.10823C>G (p.Thr3608Ser)
NM_000081.4(LYST):c.1082_1083insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTCTAGAGCAGCTTT (p.Leu361delinsPhePhePhePhePhePhePheXaaXaaXaaXaaValPheCysValAlaHisAlaGlySerCysArgProGluLeuPheLeuPheGlyHisLeuGlySerSerLeuTer)
NM_000081.4(LYST):c.10834C>G (p.Leu3612Val)
NM_000081.4(LYST):c.10838A>G (p.Tyr3613Cys)
NM_000081.4(LYST):c.10839T>C (p.Tyr3613=)
NM_000081.4(LYST):c.10847C>A (p.Thr3616Lys)
NM_000081.4(LYST):c.10848A>G (p.Thr3616=)
NM_000081.4(LYST):c.10863C>T (p.Ser3621=)
NM_000081.4(LYST):c.10869T>C (p.Phe3623=)
NM_000081.4(LYST):c.10881A>G (p.Pro3627=)
NM_000081.4(LYST):c.10891C>T (p.Leu3631=)
NM_000081.4(LYST):c.10893G>C (p.Leu3631=)
NM_000081.4(LYST):c.10900G>A (p.Val3634Met)
NM_000081.4(LYST):c.10911C>T (p.Asp3637=)
NM_000081.4(LYST):c.10916C>G (p.Thr3639Ser)
NM_000081.4(LYST):c.10921A>G (p.Ile3641Val)
NM_000081.4(LYST):c.10924A>C (p.Ile3642Leu)
NM_000081.4(LYST):c.10927T>C (p.Trp3643Arg)
NM_000081.4(LYST):c.10940+10_10940+12del rs1659473887
NM_000081.4(LYST):c.10940+20A>G
NM_000081.4(LYST):c.10940+6G>A
NM_000081.4(LYST):c.10941-14C>G
NM_000081.4(LYST):c.10941-15T>C
NM_000081.4(LYST):c.10941-18A>G
NM_000081.4(LYST):c.10941-18A>T
NM_000081.4(LYST):c.10941-19C>A
NM_000081.4(LYST):c.10941-4T>C
NM_000081.4(LYST):c.10941-8dup
NM_000081.4(LYST):c.10941G>C (p.Arg3647Ser)
NM_000081.4(LYST):c.10950T>C (p.Tyr3650=)
NM_000081.4(LYST):c.10953A>G (p.Val3651=)
NM_000081.4(LYST):c.10955A>G (p.Gln3652Arg)
NM_000081.4(LYST):c.10962G>A (p.Leu3654=)
NM_000081.4(LYST):c.10964C>T (p.Ala3655Val)
NM_000081.4(LYST):c.10965G>A (p.Ala3655=) rs762254542
NM_000081.4(LYST):c.10978C>T (p.Pro3660Ser)
NM_000081.4(LYST):c.10981G>A (p.Val3661Ile)
NM_000081.4(LYST):c.10986A>C (p.Thr3662=)
NM_000081.4(LYST):c.10989T>C (p.Ala3663=)
NM_000081.4(LYST):c.10994C>A (p.Ser3665Tyr)
NM_000081.4(LYST):c.109A>G (p.Thr37Ala)
NM_000081.4(LYST):c.10G>A (p.Asp4Asn)
NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)
NM_000081.4(LYST):c.1100T>G (p.Leu367Arg)
NM_000081.4(LYST):c.11013T>G (p.Gly3671=)
NM_000081.4(LYST):c.11017A>G (p.Ile3673Val)
NM_000081.4(LYST):c.1101A>G (p.Leu367=)
NM_000081.4(LYST):c.11022T>G (p.Ala3674=)
NM_000081.4(LYST):c.11028G>C (p.Val3676=)
NM_000081.4(LYST):c.11031_11032del (p.Cys3677_Asp3678delinsTer)
NM_000081.4(LYST):c.11038+10C>T
NM_000081.4(LYST):c.11038+11T>C
NM_000081.4(LYST):c.11038+13C>G
NM_000081.4(LYST):c.11038+13C>T
NM_000081.4(LYST):c.11038+17C>T
NM_000081.4(LYST):c.11038+18C>A
NM_000081.4(LYST):c.11039-11G>C
NM_000081.4(LYST):c.11039-12T>C
NM_000081.4(LYST):c.11039-14T>C
NM_000081.4(LYST):c.11039-15A>G
NM_000081.4(LYST):c.11039-16G>A
NM_000081.4(LYST):c.11039-19G>C
NM_000081.4(LYST):c.11039-20G>A
NM_000081.4(LYST):c.11043C>T (p.Gly3681=)
NM_000081.4(LYST):c.11044G>A (p.Gly3682Arg)
NM_000081.4(LYST):c.11070G>A (p.Thr3690=)
NM_000081.4(LYST):c.11076C>T (p.Asn3692=)
NM_000081.4(LYST):c.11077G>A (p.Gly3693Arg)
NM_000081.4(LYST):c.11079G>T (p.Gly3693=)
NM_000081.4(LYST):c.1107G>A (p.Lys369=)
NM_000081.4(LYST):c.11080G>T (p.Asp3694Tyr)
NM_000081.4(LYST):c.11087T>C (p.Val3696Ala)
NM_000081.4(LYST):c.11094T>C (p.His3698=)
NM_000081.4(LYST):c.1109A>G (p.Gln370Arg)
NM_000081.4(LYST):c.11101T>G (p.Cys3701Gly) rs1658277094
NM_000081.4(LYST):c.11102G>T (p.Cys3701Phe)
NM_000081.4(LYST):c.1110G>A (p.Gln370=)
NM_000081.4(LYST):c.11115C>G (p.Ile3705Met)
NM_000081.4(LYST):c.11117G>A (p.Cys3706Tyr)
NM_000081.4(LYST):c.1111C>G (p.Pro371Ala)
NM_000081.4(LYST):c.1111C>T (p.Pro371Ser)
NM_000081.4(LYST):c.11121C>T (p.Ser3707=)
NM_000081.4(LYST):c.11122G>A (p.Val3708Met)
NM_000081.4(LYST):c.11135A>G (p.Asn3712Ser)
NM_000081.4(LYST):c.11137C>G (p.Gln3713Glu)
NM_000081.4(LYST):c.11151A>G (p.Val3717=)
NM_000081.4(LYST):c.11155A>G (p.Ile3719Val)
NM_000081.4(LYST):c.11166C>T (p.Ile3722=)
NM_000081.4(LYST):c.11167G>A (p.Ala3723Thr)
NM_000081.4(LYST):c.11168C>T (p.Ala3723Val)
NM_000081.4(LYST):c.11187A>C (p.Gly3729=)
NM_000081.4(LYST):c.11189T>C (p.Ile3730Thr)
NM_000081.4(LYST):c.11190T>C (p.Ile3730=)
NM_000081.4(LYST):c.11195+10_11195+16del
NM_000081.4(LYST):c.11195+11T>C
NM_000081.4(LYST):c.11195+14G>T
NM_000081.4(LYST):c.11195+15G>T
NM_000081.4(LYST):c.11196-10T>C
NM_000081.4(LYST):c.11196-10del
NM_000081.4(LYST):c.11196-10dup
NM_000081.4(LYST):c.11196-17A>G
NM_000081.4(LYST):c.11196-17del
NM_000081.4(LYST):c.11196-18G>T
NM_000081.4(LYST):c.11196-20A>G
NM_000081.4(LYST):c.11196-9C>G
NM_000081.4(LYST):c.11203_11206dup (p.Thr3736fs)
NM_000081.4(LYST):c.11212G>A (p.Asp3738Asn)
NM_000081.4(LYST):c.11220G>A (p.Lys3740=)
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
NM_000081.4(LYST):c.1122T>C (p.Phe374=)
NM_000081.4(LYST):c.1122T>G (p.Phe374Leu)
NM_000081.4(LYST):c.1123G>A (p.Ala375Thr)
NM_000081.4(LYST):c.11244C>A (p.Pro3748=)
NM_000081.4(LYST):c.11244C>T (p.Pro3748=)
NM_000081.4(LYST):c.1124C>T (p.Ala375Val)
NM_000081.4(LYST):c.1125A>G (p.Ala375=)
NM_000081.4(LYST):c.11265C>T (p.Ile3755=)
NM_000081.4(LYST):c.11267+10T>C
NM_000081.4(LYST):c.11267+12T>G
NM_000081.4(LYST):c.11267+13C>T
NM_000081.4(LYST):c.11267+14C>T
NM_000081.4(LYST):c.11267+17C>A
NM_000081.4(LYST):c.11267+17C>G
NM_000081.4(LYST):c.11267+17C>T
NM_000081.4(LYST):c.11267+18del
NM_000081.4(LYST):c.11267+20T>G
NM_000081.4(LYST):c.11267+3A>G
NM_000081.4(LYST):c.11268-11T>A
NM_000081.4(LYST):c.11268-13T>C
NM_000081.4(LYST):c.11268-15T>C
NM_000081.4(LYST):c.11268-17T>A
NM_000081.4(LYST):c.11268-17T>C
NM_000081.4(LYST):c.11268-17dup rs36014994
NM_000081.4(LYST):c.11268-18A>T
NM_000081.4(LYST):c.11268-18del
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000081.4(LYST):c.11268-6_11268-5del rs36014994
NM_000081.4(LYST):c.11268-9T>C
NM_000081.4(LYST):c.11268C>G (p.Ser3756Arg)
NM_000081.4(LYST):c.1126C>A (p.Pro376Thr)
NM_000081.4(LYST):c.1126C>T (p.Pro376Ser)
NM_000081.4(LYST):c.11274A>T (p.Thr3758=)
NM_000081.4(LYST):c.11278T>C (p.Ser3760Pro)
NM_000081.4(LYST):c.11289C>G (p.Gly3763=)
NM_000081.4(LYST):c.11289C>T (p.Gly3763=)
NM_000081.4(LYST):c.1129A>C (p.Arg377=)
NM_000081.4(LYST):c.112C>T (p.His38Tyr)
NM_000081.4(LYST):c.11300A>T (p.Tyr3767Phe)
NM_000081.4(LYST):c.11301C>T (p.Tyr3767=)
NM_000081.4(LYST):c.11303C>T (p.Thr3768Ile)
NM_000081.4(LYST):c.11306C>T (p.Ala3769Val)
NM_000081.4(LYST):c.11308A>G (p.Asn3770Asp)
NM_000081.4(LYST):c.11310C>T (p.Asn3770=)
NM_000081.4(LYST):c.11312G>A (p.Ser3771Asn)
NM_000081.4(LYST):c.11315A>T (p.Asp3772Val)
NM_000081.4(LYST):c.11320A>T (p.Thr3774Ser)
NM_000081.4(LYST):c.11322C>T (p.Thr3774=)
NM_000081.4(LYST):c.11323G>A (p.Val3775Met)
NM_000081.4(LYST):c.11325G>A (p.Val3775=)
NM_000081.4(LYST):c.1132C>G (p.Gln378Glu)
NM_000081.4(LYST):c.11333G>T (p.Trp3778Leu)
NM_000081.4(LYST):c.11339G>A (p.Arg3780Gln)
NM_000081.4(LYST):c.11346C>A (p.Asp3782Glu)
NM_000081.4(LYST):c.11346C>T (p.Asp3782=)
NM_000081.4(LYST):c.11349G>A (p.Gln3783=)
NM_000081.4(LYST):c.1134A>G (p.Gln378=)
NM_000081.4(LYST):c.11355C>G (p.Arg3785=)
NM_000081.4(LYST):c.11358G>A (p.Leu3786=)
NM_000081.4(LYST):c.11368A>G (p.Met3790Val)
NM_000081.4(LYST):c.11375A>G (p.Tyr3792Cys)
NM_000081.4(LYST):c.11391C>T (p.Ser3797=)
NM_000081.4(LYST):c.11392T>C (p.Tyr3798His)
NM_000081.4(LYST):c.11393A>G (p.Tyr3798Cys)
NM_000081.4(LYST):c.11393A>T (p.Tyr3798Phe)
NM_000081.4(LYST):c.11394T>C (p.Tyr3798=)
NM_000081.4(LYST):c.11400C>T (p.Ala3800=)
NM_000081.4(LYST):c.11401G>C (p.Gly3801Arg)
NM_000081.4(LYST):c.11403G>A (p.Gly3801=)
NM_000081.4(LYST):c.1143A>T (p.Thr381=)
NM_000081.4(LYST):c.1146G>A (p.Leu382=)
NM_000081.4(LYST):c.1149G>A (p.Gln383=)
NM_000081.4(LYST):c.1151A>T (p.Glu384Val)
NM_000081.4(LYST):c.1153G>A (p.Val385Ile)
NM_000081.4(LYST):c.1167T>C (p.Phe389=)
NM_000081.4(LYST):c.116T>A (p.Met39Lys)
NM_000081.4(LYST):c.1175C>T (p.Ser392Leu)
NM_000081.4(LYST):c.1179G>A (p.Lys393=)
NM_000081.4(LYST):c.1179G>C (p.Lys393Asn)
NM_000081.4(LYST):c.1183C>T (p.Arg395Cys)
NM_000081.4(LYST):c.1184G>A (p.Arg395His)
NM_000081.4(LYST):c.1189A>G (p.Arg397Gly)
NM_000081.4(LYST):c.1189A>T (p.Arg397Ter)
NM_000081.4(LYST):c.1198C>A (p.Leu400Ile)
NM_000081.4(LYST):c.119C>T (p.Ala40Val)
NM_000081.4(LYST):c.1202T>G (p.Leu401Ter)
NM_000081.4(LYST):c.1206T>C (p.Pro402=)
NM_000081.4(LYST):c.1206T>G (p.Pro402=)
NM_000081.4(LYST):c.120A>G (p.Ala40=)
NM_000081.4(LYST):c.1217A>G (p.Glu406Gly)
NM_000081.4(LYST):c.1236G>A (p.Leu412=)
NM_000081.4(LYST):c.1240T>C (p.Cys414Arg)
NM_000081.4(LYST):c.1244G>A (p.Cys415Tyr)
NM_000081.4(LYST):c.124C>G (p.Leu42Val)
NM_000081.4(LYST):c.1259C>T (p.Ala420Val)
NM_000081.4(LYST):c.125T>C (p.Leu42Pro)
NM_000081.4(LYST):c.1263A>G (p.Ser421=)
NM_000081.4(LYST):c.126T>C (p.Leu42=)
NM_000081.4(LYST):c.1280G>A (p.Ser427Asn)
NM_000081.4(LYST):c.1288A>G (p.Met430Val)
NM_000081.4(LYST):c.1296G>A (p.Leu432=)
NM_000081.4(LYST):c.1303G>T (p.Glu435Ter)
NM_000081.4(LYST):c.1304A>T (p.Glu435Val)
NM_000081.4(LYST):c.130C>T (p.Gln44Ter)
NM_000081.4(LYST):c.1316A>G (p.His439Arg)
NM_000081.4(LYST):c.1319A>G (p.His440Arg)
NM_000081.4(LYST):c.131A>G (p.Gln44Arg)
NM_000081.4(LYST):c.1328A>G (p.Asn443Ser)
NM_000081.4(LYST):c.132G>A (p.Gln44=)
NM_000081.4(LYST):c.1332A>G (p.Leu444=)
NM_000081.4(LYST):c.1339_1341del (p.Thr447del)
NM_000081.4(LYST):c.133T>C (p.Tyr45His)
NM_000081.4(LYST):c.1342G>A (p.Ala448Thr)
NM_000081.4(LYST):c.1354A>G (p.Met452Val)
NM_000081.4(LYST):c.1360T>C (p.Trp454Arg)
NM_000081.4(LYST):c.1361G>A (p.Trp454Ter)
NM_000081.4(LYST):c.1364T>C (p.Leu455Pro)
NM_000081.4(LYST):c.136C>T (p.Leu46Phe)
NM_000081.4(LYST):c.1377T>C (p.Asp459=)
NM_000081.4(LYST):c.1386T>C (p.Pro462=)
NM_000081.4(LYST):c.1389C>A (p.Pro463=)
NM_000081.4(LYST):c.1389C>T (p.Pro463=)
NM_000081.4(LYST):c.1391del (p.Glu464fs)
NM_000081.4(LYST):c.1392G>A (p.Glu464=)
NM_000081.4(LYST):c.1400A>T (p.Glu467Val)
NM_000081.4(LYST):c.1406T>A (p.Leu469Ter)
NM_000081.4(LYST):c.1413C>T (p.Ala471=)
NM_000081.4(LYST):c.141C>T (p.Val47=)
NM_000081.4(LYST):c.1421A>G (p.Asn474Ser)
NM_000081.4(LYST):c.1422T>C (p.Asn474=)
NM_000081.4(LYST):c.1424G>A (p.Ser475Asn)
NM_000081.4(LYST):c.1425T>C (p.Ser475=)
NM_000081.4(LYST):c.1428G>A (p.Val476=)
NM_000081.4(LYST):c.1446T>C (p.Thr482=)
NM_000081.4(LYST):c.144T>C (p.His48=)
NM_000081.4(LYST):c.1454A>C (p.Lys485Thr)
NM_000081.4(LYST):c.1456G>T (p.Val486Leu)
NM_000081.4(LYST):c.1467G>A (p.Glu489=)
NM_000081.4(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.4(LYST):c.146G>A (p.Gly49Asp)
NM_000081.4(LYST):c.1470A>G (p.Gln490=)
NM_000081.4(LYST):c.1475A>G (p.His492Arg)
NM_000081.4(LYST):c.1478A>G (p.His493Arg)
NM_000081.4(LYST):c.147T>C (p.Gly49=)
NM_000081.4(LYST):c.1481C>T (p.Ser494Leu)
NM_000081.4(LYST):c.1482G>A (p.Ser494=)
NM_000081.4(LYST):c.1482G>T (p.Ser494=)
NM_000081.4(LYST):c.1484T>C (p.Met495Thr)
NM_000081.4(LYST):c.1487G>A (p.Cys496Tyr)
NM_000081.4(LYST):c.1488T>C (p.Cys496=)
NM_000081.4(LYST):c.148C>G (p.Arg50Gly)
NM_000081.4(LYST):c.1491A>C (p.Thr497=)
NM_000081.4(LYST):c.1492A>T (p.Arg498Ter)
NM_000081.4(LYST):c.149G>A (p.Arg50Gln)
NM_000081.4(LYST):c.1500_1501delinsAT (p.His501Tyr)
NM_000081.4(LYST):c.1508G>A (p.Arg503Gln)
NM_000081.4(LYST):c.150A>G (p.Arg50=)
NM_000081.4(LYST):c.1520C>T (p.Ser507Phe)
NM_000081.4(LYST):c.1530G>A (p.Met510Ile)
NM_000081.4(LYST):c.1532A>G (p.His511Arg)
NM_000081.4(LYST):c.1535A>G (p.His512Arg) rs759547330
NM_000081.4(LYST):c.1536T>A (p.His512Gln)
NM_000081.4(LYST):c.1538A>G (p.His513Arg)
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) rs80338645
NM_000081.4(LYST):c.154T>C (p.Phe52Leu)
NM_000081.4(LYST):c.1551A>G (p.Ser517=)
NM_000081.4(LYST):c.1559T>C (p.Leu520Pro)
NM_000081.4(LYST):c.1560G>A (p.Leu520=)
NM_000081.4(LYST):c.1563T>C (p.Val521=)
NM_000081.4(LYST):c.1565C>T (p.Ser522Leu)
NM_000081.4(LYST):c.1566G>A (p.Ser522=)
NM_000081.4(LYST):c.1575A>C (p.Lys525Asn)
NM_000081.4(LYST):c.157C>T (p.Leu53=)
NM_000081.4(LYST):c.1580A>G (p.Gln527Arg)
NM_000081.4(LYST):c.1588A>C (p.Lys530Gln)
NM_000081.4(LYST):c.1592dup (p.Asn531fs)
NM_000081.4(LYST):c.1596A>G (p.Pro532=)
NM_000081.4(LYST):c.1599dup (p.Glu534Ter)
NM_000081.4(LYST):c.1602A>G (p.Glu534=)
NM_000081.4(LYST):c.1604A>G (p.Glu535Gly)
NM_000081.4(LYST):c.1609G>T (p.Ala537Ser)
NM_000081.4(LYST):c.1610C>T (p.Ala537Val)
NM_000081.4(LYST):c.1614T>C (p.Asp538=)
NM_000081.4(LYST):c.1615G>A (p.Gly539Arg)
NM_000081.4(LYST):c.1625A>G (p.Tyr542Cys)
NM_000081.4(LYST):c.1636C>T (p.Arg546Trp)
NM_000081.4(LYST):c.1647C>T (p.Cys549=)
NM_000081.4(LYST):c.1648A>G (p.Ile550Val)
NM_000081.4(LYST):c.1652C>T (p.Ala551Val)
NM_000081.4(LYST):c.1654G>T (p.Val552Leu)
NM_000081.4(LYST):c.1657T>G (p.Cys553Gly)
NM_000081.4(LYST):c.1662C>A (p.Ala554=)
NM_000081.4(LYST):c.1662C>G (p.Ala554=)
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
NM_000081.4(LYST):c.1675C>T (p.Arg559Cys)
NM_000081.4(LYST):c.1676G>A (p.Arg559His)
NM_000081.4(LYST):c.167C>T (p.Thr56Ile)
NM_000081.4(LYST):c.1680A>G (p.Leu560=)
NM_000081.4(LYST):c.168C>A (p.Thr56=)
NM_000081.4(LYST):c.1691C>T (p.Ala564Val)
NM_000081.4(LYST):c.1697T>G (p.Leu566Trp)
NM_000081.4(LYST):c.1704C>T (p.Ser568=)
NM_000081.4(LYST):c.1716G>C (p.Gln572His)
NM_000081.4(LYST):c.1716G>T (p.Gln572His)
NM_000081.4(LYST):c.171G>A (p.Lys57=)
NM_000081.4(LYST):c.171G>T (p.Lys57Asn)
NM_000081.4(LYST):c.1722A>G (p.Leu574=)
NM_000081.4(LYST):c.1724C>T (p.Ser575Leu)
NM_000081.4(LYST):c.1725G>A (p.Ser575=)
NM_000081.4(LYST):c.1726G>A (p.Gly576Ser)
NM_000081.4(LYST):c.1727G>A (p.Gly576Asp)
NM_000081.4(LYST):c.1729G>A (p.Val577Ile)
NM_000081.4(LYST):c.1737C>T (p.Asn579=)
NM_000081.4(LYST):c.1739T>C (p.Ile580Thr)
NM_000081.4(LYST):c.1753T>C (p.Cys585Arg)
NM_000081.4(LYST):c.1753T>G (p.Cys585Gly)
NM_000081.4(LYST):c.1757T>A (p.Met586Lys)
NM_000081.4(LYST):c.1758_1761dup (p.Pro588fs)
NM_000081.4(LYST):c.1759G>A (p.Asp587Asn)
NM_000081.4(LYST):c.1760A>G (p.Asp587Gly)
NM_000081.4(LYST):c.1765A>G (p.Lys589Glu)
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg)
NM_000081.4(LYST):c.1767A>C (p.Lys589Asn)
NM_000081.4(LYST):c.1776C>T (p.Ile592=)
NM_000081.4(LYST):c.1779T>C (p.Ile593=)
NM_000081.4(LYST):c.1788C>G (p.Leu596=)
NM_000081.4(LYST):c.1797T>C (p.Phe599=)
NM_000081.4(LYST):c.1798A>G (p.Lys600Glu)
NM_000081.4(LYST):c.1800A>T (p.Lys600Asn)
NM_000081.4(LYST):c.1803G>A (p.Leu601=)
NM_000081.4(LYST):c.1806A>G (p.Pro602=)
NM_000081.4(LYST):c.1807G>T (p.Ala603Ser)
NM_000081.4(LYST):c.1809A>G (p.Ala603=)
NM_000081.4(LYST):c.181A>G (p.Ile61Val)
NM_000081.4(LYST):c.1829A>T (p.His610Leu)
NM_000081.4(LYST):c.1836G>A (p.Leu612=)
NM_000081.4(LYST):c.1842C>T (p.Ile614=)
NM_000081.4(LYST):c.1843C>T (p.Leu615Phe)
NM_000081.4(LYST):c.184A>G (p.Ile62Val)
NM_000081.4(LYST):c.1853T>A (p.Leu618His)
NM_000081.4(LYST):c.1857T>G (p.Ile619Met)
NM_000081.4(LYST):c.1862A>G (p.Asp621Gly)
NM_000081.4(LYST):c.1862A>T (p.Asp621Val)
NM_000081.4(LYST):c.1871GAG[1] (p.Gly625del)
NM_000081.4(LYST):c.1875A>G (p.Gly625=)
NM_000081.4(LYST):c.1882A>C (p.Ile628Leu)
NM_000081.4(LYST):c.1897A>G (p.Lys633Glu)
NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)
NM_000081.4(LYST):c.1901A>G (p.Lys634Arg)
NM_000081.4(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_000081.4(LYST):c.1903G>A (p.Ala635Thr)
NM_000081.4(LYST):c.1903G>T (p.Ala635Ser)
NM_000081.4(LYST):c.1905A>G (p.Ala635=)
NM_000081.4(LYST):c.1907C>T (p.Ala636Val)
NM_000081.4(LYST):c.1908T>C (p.Ala636=)
NM_000081.4(LYST):c.1912A>G (p.Asn638Asp)
NM_000081.4(LYST):c.1913A>G (p.Asn638Ser)
NM_000081.4(LYST):c.1915A>G (p.Ile639Val)
NM_000081.4(LYST):c.1918T>C (p.Cys640Arg)
NM_000081.4(LYST):c.1919G>T (p.Cys640Phe)
NM_000081.4(LYST):c.192+10T>G
NM_000081.4(LYST):c.192+11T>C
NM_000081.4(LYST):c.192+13T>C
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.192+2T>C
NM_000081.4(LYST):c.192+7T>C
NM_000081.4(LYST):c.192+8T>G
NM_000081.4(LYST):c.1924G>A (p.Val642Ile)
NM_000081.4(LYST):c.1924G>T (p.Val642Phe)
NM_000081.4(LYST):c.193-11T>A
NM_000081.4(LYST):c.193-18C>G
NM_000081.4(LYST):c.193-3T>C
NM_000081.4(LYST):c.193-4A>C
NM_000081.4(LYST):c.193-7G>A
NM_000081.4(LYST):c.1933G>A (p.Asp645Asn)
NM_000081.4(LYST):c.1939C>G (p.Leu647Val)
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
NM_000081.4(LYST):c.1948T>C (p.Leu650=)
NM_000081.4(LYST):c.1952A>G (p.Glu651Gly)
NM_000081.4(LYST):c.1957A>G (p.Thr653Ala)
NM_000081.4(LYST):c.1959A>G (p.Thr653=)
NM_000081.4(LYST):c.1963C>A (p.Gln655Lys)
NM_000081.4(LYST):c.1964A>G (p.Gln655Arg)
NM_000081.4(LYST):c.1965G>C (p.Gln655His)
NM_000081.4(LYST):c.1967G>T (p.Gly656Val)
NM_000081.4(LYST):c.1969A>T (p.Asn657Tyr)
NM_000081.4(LYST):c.1970A>G (p.Asn657Ser)
NM_000081.4(LYST):c.1971C>T (p.Asn657=) rs1346763642
NM_000081.4(LYST):c.1975T>C (p.Cys659Arg)
NM_000081.4(LYST):c.1986A>G (p.Glu662=)
NM_000081.4(LYST):c.1988T>C (p.Leu663Pro)
NM_000081.4(LYST):c.1990T>C (p.Ser664Pro)
NM_000081.4(LYST):c.1992C>T (p.Ser664=)
NM_000081.4(LYST):c.1995A>G (p.Ser665=)
NM_000081.4(LYST):c.2009CTT[1] (p.Ser671del)
NM_000081.4(LYST):c.200C>T (p.Thr67Ile)
NM_000081.4(LYST):c.2013T>C (p.Ser671=)
NM_000081.4(LYST):c.2015dup (p.Tyr672Ter)
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
NM_000081.4(LYST):c.2022T>A (p.Phe674Leu)
NM_000081.4(LYST):c.2025A>G (p.Gln675=)
NM_000081.4(LYST):c.2029A>G (p.Ile677Val)
NM_000081.4(LYST):c.2029A>T (p.Ile677Phe)
NM_000081.4(LYST):c.2030T>C (p.Ile677Thr)
NM_000081.4(LYST):c.2040C>T (p.Ser680=) rs1572335678
NM_000081.4(LYST):c.2045G>A (p.Gly682Glu)
NM_000081.4(LYST):c.2059T>C (p.Leu687=)
NM_000081.4(LYST):c.2065A>G (p.Lys689Glu)
NM_000081.4(LYST):c.2073T>C (p.Asp691=)
NM_000081.4(LYST):c.2075C>T (p.Ala692Val)
NM_000081.4(LYST):c.2078T>C (p.Leu693Ser)
NM_000081.4(LYST):c.2082G>A (p.Lys694=)
NM_000081.4(LYST):c.2089C>T (p.Gln697Ter)
NM_000081.4(LYST):c.2094C>T (p.Asn698=)
NM_000081.4(LYST):c.2097T>C (p.Phe699=)
NM_000081.4(LYST):c.2098G>C (p.Val700Leu)
NM_000081.4(LYST):c.2103T>C (p.Phe701=)
NM_000081.4(LYST):c.2106A>G (p.Glu702=)
NM_000081.4(LYST):c.2109A>G (p.Glu703=)
NM_000081.4(LYST):c.210A>G (p.Glu70=)
NM_000081.4(LYST):c.2118A>G (p.Leu706=)
NM_000081.4(LYST):c.2124T>C (p.Ser708=)
NM_000081.4(LYST):c.2125A>G (p.Ile709Val)
NM_000081.4(LYST):c.2129A>G (p.Gln710Arg)
NM_000081.4(LYST):c.2130G>A (p.Gln710=)
NM_000081.4(LYST):c.2138A>G (p.Asn713Ser)
NM_000081.4(LYST):c.2145T>C (p.Ile715=)
NM_000081.4(LYST):c.2147G>A (p.Cys716Tyr)
NM_000081.4(LYST):c.2148C>T (p.Cys716=)
NM_000081.4(LYST):c.2153T>C (p.Leu718Ser)
NM_000081.4(LYST):c.2157C>T (p.Ile719=)
NM_000081.4(LYST):c.2158C>T (p.Gln720Ter)
NM_000081.4(LYST):c.2168A>G (p.Asn723Ser)
NM_000081.4(LYST):c.2170A>G (p.Ile724Val)
NM_000081.4(LYST):c.2172A>G (p.Ile724Met)
NM_000081.4(LYST):c.2179C>G (p.Gln727Glu)
NM_000081.4(LYST):c.2180A>G (p.Gln727Arg)
NM_000081.4(LYST):c.2192A>G (p.Tyr731Cys)
NM_000081.4(LYST):c.2217C>T (p.Leu739=)
NM_000081.4(LYST):c.2235A>G (p.Leu745=)
NM_000081.4(LYST):c.2239C>T (p.His747Tyr)
NM_000081.4(LYST):c.2244T>C (p.His748=)
NM_000081.4(LYST):c.2250A>G (p.Gln750=)
NM_000081.4(LYST):c.2254C>T (p.Leu752=)
NM_000081.4(LYST):c.2255T>A (p.Leu752Gln)
NM_000081.4(LYST):c.2255T>G (p.Leu752Arg)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.2259C>T (p.Ser753=)
NM_000081.4(LYST):c.2260G>A (p.Val754Ile)
NM_000081.4(LYST):c.2274A>G (p.Gln758=)
NM_000081.4(LYST):c.2274A>T (p.Gln758His)
NM_000081.4(LYST):c.2281G>C (p.Val761Leu)
NM_000081.4(LYST):c.2288G>A (p.Ser763Asn)
NM_000081.4(LYST):c.2289C>T (p.Ser763=)
NM_000081.4(LYST):c.2291A>G (p.His764Arg)
NM_000081.4(LYST):c.2295T>C (p.His765=)
NM_000081.4(LYST):c.22C>G (p.Leu8Val)
NM_000081.4(LYST):c.2305T>C (p.Leu769=)
NM_000081.4(LYST):c.2307G>A (p.Leu769=)
NM_000081.4(LYST):c.2307G>T (p.Leu769Phe)
NM_000081.4(LYST):c.2309C>A (p.Pro770His)
NM_000081.4(LYST):c.2310T>C (p.Pro770=)
NM_000081.4(LYST):c.2311C>G (p.Gln771Glu)
NM_000081.4(LYST):c.2316C>G (p.Asp772Glu)
NM_000081.4(LYST):c.2317G>A (p.Val773Met)
NM_000081.4(LYST):c.2317G>T (p.Val773Leu)
NM_000081.4(LYST):c.2319G>C (p.Val773=)
NM_000081.4(LYST):c.2319_2320delinsAT (p.Leu774Phe) rs2102878203
NM_000081.4(LYST):c.231G>A (p.Leu77=)
NM_000081.4(LYST):c.2339C>T (p.Thr780Ile)
NM_000081.4(LYST):c.2343G>A (p.Leu781=)
NM_000081.4(LYST):c.2347A>G (p.Ile783Val)
NM_000081.4(LYST):c.235C>G (p.Leu79Val)
NM_000081.4(LYST):c.2363+11G>A
NM_000081.4(LYST):c.2363+12dup
NM_000081.4(LYST):c.2363+13G>A
NM_000081.4(LYST):c.2363+14T>C
NM_000081.4(LYST):c.2363+16G>T
NM_000081.4(LYST):c.2363+17G>A
NM_000081.4(LYST):c.2363+17G>C
NM_000081.4(LYST):c.2363+3T>C
NM_000081.4(LYST):c.2363+7A>G
NM_000081.4(LYST):c.2363+7A>T
NM_000081.4(LYST):c.2364-12T>C
NM_000081.4(LYST):c.2364-15T>G
NM_000081.4(LYST):c.2364-16dup
NM_000081.4(LYST):c.2364-17C>A
NM_000081.4(LYST):c.2364-17C>T
NM_000081.4(LYST):c.2364-20A>G
NM_000081.4(LYST):c.2364-5C>T
NM_000081.4(LYST):c.2364-6T>C
NM_000081.4(LYST):c.2365G>T (p.Val789Leu)
NM_000081.4(LYST):c.2368A>G (p.Ile790Val)
NM_000081.4(LYST):c.236_237del (p.Leu79fs)
NM_000081.4(LYST):c.2382T>C (p.Phe794=) rs1572329047
NM_000081.4(LYST):c.2383T>C (p.Leu795=)
NM_000081.4(LYST):c.2384T>C (p.Leu795Ser)
NM_000081.4(LYST):c.2391T>C (p.Cys797=)
NM_000081.4(LYST):c.2392A>G (p.Asn798Asp)
NM_000081.4(LYST):c.2395_2396delinsAT (p.Gly799Ile)
NM_000081.4(LYST):c.2399T>G (p.Val800Gly)
NM_000081.4(LYST):c.2404C>A (p.Gln802Lys)
NM_000081.4(LYST):c.2409A>C (p.Ile803=)
NM_000081.4(LYST):c.2412C>A (p.Ile804=)
NM_000081.4(LYST):c.2412C>T (p.Ile804=) rs1031547596
NM_000081.4(LYST):c.2413G>A (p.Glu805Lys)
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
NM_000081.4(LYST):c.2413del (p.Glu805fs) rs80338647
NM_000081.4(LYST):c.2416T>C (p.Leu806=)
NM_000081.4(LYST):c.2433T>G (p.Gly811=)
NM_000081.4(LYST):c.2434A>G (p.Ile812Val)
NM_000081.4(LYST):c.2437C>T (p.Arg813Ter)
NM_000081.4(LYST):c.2439A>C (p.Arg813=)
NM_000081.4(LYST):c.2440A>C (p.Ser814Arg)
NM_000081.4(LYST):c.2442T>A (p.Ser814Arg)
NM_000081.4(LYST):c.2442T>C (p.Ser814=)
NM_000081.4(LYST):c.2443C>T (p.His815Tyr)
NM_000081.4(LYST):c.2444A>G (p.His815Arg)
NM_000081.4(LYST):c.244C>T (p.Leu82=)
NM_000081.4(LYST):c.244dup (p.Leu82fs)
NM_000081.4(LYST):c.2455G>A (p.Ala819Thr)
NM_000081.4(LYST):c.2457A>C (p.Ala819=)
NM_000081.4(LYST):c.2460T>G (p.Phe820Leu)
NM_000081.4(LYST):c.2463A>G (p.Glu821=)
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.2466T>G (p.Thr822=)
NM_000081.4(LYST):c.2469G>A (p.Leu823=) rs1572328673
NM_000081.4(LYST):c.2478C>G (p.Ser826Arg)
NM_000081.4(LYST):c.2478C>T (p.Ser826=)
NM_000081.4(LYST):c.247G>A (p.Val83Ile)
NM_000081.4(LYST):c.2480T>A (p.Leu827Gln)
NM_000081.4(LYST):c.2484G>A (p.Gly828=)
NM_000081.4(LYST):c.2496A>G (p.Lys832=)
NM_000081.4(LYST):c.2496del (p.Asp833fs)
NM_000081.4(LYST):c.249A>G (p.Val83=)
NM_000081.4(LYST):c.24G>A (p.Leu8=)
NM_000081.4(LYST):c.2502C>T (p.Ala834=)
NM_000081.4(LYST):c.2505A>G (p.Ser835=)
NM_000081.4(LYST):c.2509C>G (p.Pro837Ala)
NM_000081.4(LYST):c.2514T>A (p.Asp838Glu)
NM_000081.4(LYST):c.2518G>A (p.Asp840Asn)
NM_000081.4(LYST):c.2521G>C (p.Gly841Arg)
NM_000081.4(LYST):c.2522G>A (p.Gly841Glu)
NM_000081.4(LYST):c.2523G>A (p.Gly841=)
NM_000081.4(LYST):c.2523G>C (p.Gly841=)
NM_000081.4(LYST):c.2529C>T (p.Asp843=)
NM_000081.4(LYST):c.2531T>G (p.Ile844Ser)
NM_000081.4(LYST):c.2538G>A (p.Gln846=)
NM_000081.4(LYST):c.2539_2541del (p.Lys847del)
NM_000081.4(LYST):c.253A>G (p.Lys85Glu)
NM_000081.4(LYST):c.2540del (p.Lys847fs)
NM_000081.4(LYST):c.2546T>C (p.Leu849Ser)
NM_000081.4(LYST):c.2554G>A (p.Val852Ile)
NM_000081.4(LYST):c.2556A>T (p.Val852=)
NM_000081.4(LYST):c.2559T>C (p.His853=)
NM_000081.4(LYST):c.2563G>A (p.Gly855Ser)
NM_000081.4(LYST):c.2565T>A (p.Gly855=)
NM_000081.4(LYST):c.2567C>T (p.Thr856Ile)
NM_000081.4(LYST):c.2568T>G (p.Thr856=)
NM_000081.4(LYST):c.2570C>G (p.Ser857Cys)
NM_000081.4(LYST):c.2583G>A (p.Gln861=)
NM_000081.4(LYST):c.259C>A (p.Pro87Thr)
NM_000081.4(LYST):c.2600C>G (p.Ser867Cys)
NM_000081.4(LYST):c.2604T>C (p.Pro868=)
NM_000081.4(LYST):c.2616C>A (p.Ser872Arg)
NM_000081.4(LYST):c.2624A>T (p.Tyr875Phe)
NM_000081.4(LYST):c.2627C>T (p.Ala876Val)
NM_000081.4(LYST):c.2630G>C (p.Gly877Ala)
NM_000081.4(LYST):c.2636A>G (p.Lys879Arg)
NM_000081.4(LYST):c.2637A>G (p.Lys879=)
NM_000081.4(LYST):c.2641G>C (p.Ala881Pro)
NM_000081.4(LYST):c.2646T>C (p.Tyr882=)
NM_000081.4(LYST):c.2647C>G (p.Pro883Ala)
NM_000081.4(LYST):c.2656C>T (p.Arg886Trp)
NM_000081.4(LYST):c.2657G>A (p.Arg886Gln)
NM_000081.4(LYST):c.2674G>C (p.Asp892His)
NM_000081.4(LYST):c.2677G>A (p.Val893Ile)
NM_000081.4(LYST):c.2696A>G (p.Asn899Ser)
NM_000081.4(LYST):c.2703C>T (p.Phe901=)
NM_000081.4(LYST):c.2708G>C (p.Cys903Ser)
NM_000081.4(LYST):c.2710G>T (p.Val904Leu)
NM_000081.4(LYST):c.2712G>T (p.Val904=)
NM_000081.4(LYST):c.2718T>C (p.Phe906=)
NM_000081.4(LYST):c.2724C>G (p.Cys908Trp)
NM_000081.4(LYST):c.2725G>A (p.Val909Ile)
NM_000081.4(LYST):c.2729G>A (p.Ser910Asn)
NM_000081.4(LYST):c.2730_2734del (p.Ser910fs)
NM_000081.4(LYST):c.2736A>G (p.Glu912=)
NM_000081.4(LYST):c.2739A>G (p.Ala913=)
NM_000081.4(LYST):c.2745T>C (p.Ser915=)
NM_000081.4(LYST):c.2746_2747insCCG (p.Ser915_Asp916insAla)
NM_000081.4(LYST):c.2749A>G (p.Arg917Gly)
NM_000081.4(LYST):c.2756C>T (p.Ser919Leu)
NM_000081.4(LYST):c.2758G>A (p.Ala920Thr)
NM_000081.4(LYST):c.2760C>T (p.Ala920=)
NM_000081.4(LYST):c.2762A>G (p.Asn921Ser)
NM_000081.4(LYST):c.2769A>T (p.Ser923=)
NM_000081.4(LYST):c.2777C>T (p.Thr926Ile)
NM_000081.4(LYST):c.2783G>A (p.Gly928Asp)
NM_000081.4(LYST):c.278C>G (p.Ala93Gly)
NM_000081.4(LYST):c.2790C>G (p.Asp930Glu)
NM_000081.4(LYST):c.2792G>C (p.Ser931Thr)
NM_000081.4(LYST):c.27A>G (p.Ala9=)
NM_000081.4(LYST):c.2801G>A (p.Ser934Asn)
NM_000081.4(LYST):c.2802C>T (p.Ser934=)
NM_000081.4(LYST):c.2803G>A (p.Glu935Lys)
NM_000081.4(LYST):c.2806C>A (p.Pro936Thr)
NM_000081.4(LYST):c.2806C>G (p.Pro936Ala)
NM_000081.4(LYST):c.2807C>A (p.Pro936His)
NM_000081.4(LYST):c.2807C>G (p.Pro936Arg)
NM_000081.4(LYST):c.2811A>G (p.Leu937=)
NM_000081.4(LYST):c.2812A>G (p.Ser938Gly)
NM_000081.4(LYST):c.2813G>T (p.Ser938Ile)
NM_000081.4(LYST):c.2816A>G (p.His939Arg)
NM_000081.4(LYST):c.2821C>T (p.Leu941=)
NM_000081.4(LYST):c.2827T>C (p.Cys943Arg)
NM_000081.4(LYST):c.2827T>G (p.Cys943Gly)
NM_000081.4(LYST):c.2828G>A (p.Cys943Tyr)
NM_000081.4(LYST):c.2829T>C (p.Cys943=)
NM_000081.4(LYST):c.283+11T>C
NM_000081.4(LYST):c.283+12C>T
NM_000081.4(LYST):c.283+14del
NM_000081.4(LYST):c.283+16T>A
NM_000081.4(LYST):c.283+16T>G
NM_000081.4(LYST):c.283+17T>C
NM_000081.4(LYST):c.283+18A>G
NM_000081.4(LYST):c.283+20C>T
NM_000081.4(LYST):c.283+4T>C
NM_000081.4(LYST):c.283+8T>C
NM_000081.4(LYST):c.2830A>G (p.Ile944Val)
NM_000081.4(LYST):c.2832_2833del (p.Leu946fs)
NM_000081.4(LYST):c.2832del (p.Ser945fs)
NM_000081.4(LYST):c.2834C>G (p.Ser945Cys)
NM_000081.4(LYST):c.2838C>T (p.Leu946=)
NM_000081.4(LYST):c.2839G>A (p.Glu947Lys)
NM_000081.4(LYST):c.284-10A>G
NM_000081.4(LYST):c.284-13T>A
NM_000081.4(LYST):c.284-13T>C
NM_000081.4(LYST):c.284-14T>C
NM_000081.4(LYST):c.284-5A>G
NM_000081.4(LYST):c.284-6C>A
NM_000081.4(LYST):c.284-9T>C
NM_000081.4(LYST):c.2841G>A (p.Glu947=)
NM_000081.4(LYST):c.2842A>G (p.Ser948Gly)
NM_000081.4(LYST):c.2844C>T (p.Ser948=)
NM_000081.4(LYST):c.2845C>T (p.Leu949Phe)
NM_000081.4(LYST):c.2848G>A (p.Val950Ile)
NM_000081.4(LYST):c.2848G>C (p.Val950Leu)
NM_000081.4(LYST):c.2850C>T (p.Val950=)
NM_000081.4(LYST):c.2851T>C (p.Leu951=) rs773810421
NM_000081.4(LYST):c.2856T>G (p.Pro952=)
NM_000081.4(LYST):c.285T>C (p.Asp95=)
NM_000081.4(LYST):c.285T>G (p.Asp95Glu) rs747965676
NM_000081.4(LYST):c.2860C>T (p.Pro954Ser)
NM_000081.4(LYST):c.2868T>C (p.His956=)
NM_000081.4(LYST):c.2876A>G (p.Gln959Arg)
NM_000081.4(LYST):c.2882C>T (p.Ala961Val)
NM_000081.4(LYST):c.2886C>T (p.Asp962=)
NM_000081.4(LYST):c.2895T>A (p.Ser965=)
NM_000081.4(LYST):c.2896_2897del (p.Met966fs)
NM_000081.4(LYST):c.28C>T (p.Arg10Cys)
NM_000081.4(LYST):c.2901T>C (p.Cys967=)
NM_000081.4(LYST):c.2902C>T (p.Arg968Cys)
NM_000081.4(LYST):c.2903G>A (p.Arg968His)
NM_000081.4(LYST):c.2904T>C (p.Arg968=)
NM_000081.4(LYST):c.2909T>C (p.Ile970Thr) rs141758032
NM_000081.4(LYST):c.2909T>G (p.Ile970Ser)
NM_000081.4(LYST):c.2916G>A (p.Met972Ile)
NM_000081.4(LYST):c.2919G>A (p.Leu973=)
NM_000081.4(LYST):c.2922T>G (p.Ser974Arg)
NM_000081.4(LYST):c.2926G>A (p.Val976Met)
NM_000081.4(LYST):c.292C>T (p.Leu98=)
NM_000081.4(LYST):c.2931C>A (p.Phe977Leu)
NM_000081.4(LYST):c.2933A>G (p.Gln978Arg)
NM_000081.4(LYST):c.2940G>A (p.Gln980=)
NM_000081.4(LYST):c.2945A>G (p.Tyr982Cys)
NM_000081.4(LYST):c.2948G>A (p.Arg983Lys)
NM_000081.4(LYST):c.2952T>C (p.Leu984=)
NM_000081.4(LYST):c.2959T>G (p.Phe987Val)
NM_000081.4(LYST):c.2962C>A (p.Arg988=)
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.2967A>T (p.Val989=)
NM_000081.4(LYST):c.2968T>C (p.Cys990Arg)
NM_000081.4(LYST):c.296C>T (p.Pro99Leu)
NM_000081.4(LYST):c.2970C>T (p.Cys990=)
NM_000081.4(LYST):c.2971C>T (p.His991Tyr)
NM_000081.4(LYST):c.2972A>G (p.His991Arg)
NM_000081.4(LYST):c.2976G>A (p.Lys992=)
NM_000081.4(LYST):c.297G>A (p.Pro99=)
NM_000081.4(LYST):c.297G>C (p.Pro99=)
NM_000081.4(LYST):c.298C>T (p.Leu100Phe)
NM_000081.4(LYST):c.2995C>G (p.Gln999Glu)
NM_000081.4(LYST):c.3001C>T (p.Leu1001=)
NM_000081.4(LYST):c.3003G>C (p.Leu1001=) rs1572326456
NM_000081.4(LYST):c.3014A>G (p.His1005Arg)
NM_000081.4(LYST):c.3024G>A (p.Glu1008=)
NM_000081.4(LYST):c.3029G>C (p.Gly1010Ala)
NM_000081.4(LYST):c.3031A>G (p.Lys1011Glu)
NM_000081.4(LYST):c.3041G>C (p.Gly1014Ala)
NM_000081.4(LYST):c.3044A>T (p.Asp1015Val)
NM_000081.4(LYST):c.3047C>T (p.Thr1016Ile)
NM_000081.4(LYST):c.3051T>C (p.Ser1017=)
NM_000081.4(LYST):c.3059A>G (p.Glu1020Gly)
NM_000081.4(LYST):c.3061A>C (p.Asn1021His)
NM_000081.4(LYST):c.3062A>G (p.Asn1021Ser)
NM_000081.4(LYST):c.3065A>G (p.Gln1022Arg)
NM_000081.4(LYST):c.3066G>A (p.Gln1022=)
NM_000081.4(LYST):c.3073A>C (p.Asn1025His)
NM_000081.4(LYST):c.3078A>C (p.Arg1026Ser)
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.3087A>G (p.Gln1029=)
NM_000081.4(LYST):c.3088C>T (p.Pro1030Ser)
NM_000081.4(LYST):c.3090T>C (p.Pro1030=)
NM_000081.4(LYST):c.3091A>G (p.Lys1031Glu)
NM_000081.4(LYST):c.3092A>G (p.Lys1031Arg)
NM_000081.4(LYST):c.3093G>A (p.Lys1031=)
NM_000081.4(LYST):c.3099T>G (p.Thr1033=)
NM_000081.4(LYST):c.3100A>G (p.Met1034Val)
NM_000081.4(LYST):c.3106G>C (p.Glu1036Gln)
NM_000081.4(LYST):c.3110A>G (p.Asp1037Gly)
NM_000081.4(LYST):c.3114A>T (p.Leu1038Phe)
NM_000081.4(LYST):c.3119C>G (p.Ser1040Cys)
NM_000081.4(LYST):c.3123G>A (p.Leu1041=)
NM_000081.4(LYST):c.3125C>T (p.Ala1042Val)
NM_000081.4(LYST):c.3127A>G (p.Ile1043Val)
NM_000081.4(LYST):c.3128T>C (p.Ile1043Thr)
NM_000081.4(LYST):c.312_314del (p.Ile105del)
NM_000081.4(LYST):c.3134G>A (p.Ser1045Asn)
NM_000081.4(LYST):c.3137A>G (p.Asp1046Gly)
NM_000081.4(LYST):c.3142A>T (p.Ile1048Leu)
NM_000081.4(LYST):c.3153A>G (p.Glu1051=)
NM_000081.4(LYST):c.3156A>G (p.Leu1052=)
NM_000081.4(LYST):c.3159T>G (p.Gly1053=)
NM_000081.4(LYST):c.3159del (p.Ser1054fs)
NM_000081.4(LYST):c.3163C>T (p.Leu1055=)
NM_000081.4(LYST):c.3165A>G (p.Leu1055=)
NM_000081.4(LYST):c.316C>T (p.Leu106=)
NM_000081.4(LYST):c.3171_3172delinsAG (p.Ser1058Gly)
NM_000081.4(LYST):c.3173G>T (p.Ser1058Ile)
NM_000081.4(LYST):c.3179A>G (p.Asp1060Gly)
NM_000081.4(LYST):c.3183T>A (p.Ser1061Arg)
NM_000081.4(LYST):c.318G>A (p.Leu106=)
NM_000081.4(LYST):c.318G>C (p.Leu106=)
NM_000081.4(LYST):c.3203A>G (p.Gln1068Arg)
NM_000081.4(LYST):c.3205C>T (p.His1069Tyr)
NM_000081.4(LYST):c.3206A>G (p.His1069Arg)
NM_000081.4(LYST):c.320C>A (p.Thr107Asn)
NM_000081.4(LYST):c.3222T>C (p.Asn1074=)
NM_000081.4(LYST):c.3223G>A (p.Val1075Met)
NM_000081.4(LYST):c.3234T>G (p.Val1078=)
NM_000081.4(LYST):c.3235T>G (p.Ser1079Ala)
NM_000081.4(LYST):c.3249C>T (p.Ala1083=)
NM_000081.4(LYST):c.324A>G (p.Lys108=)
NM_000081.4(LYST):c.3250G>T (p.Ala1084Ser)
NM_000081.4(LYST):c.3254C>T (p.Pro1085Leu)
NM_000081.4(LYST):c.3255C>T (p.Pro1085=)
NM_000081.4(LYST):c.3256G>A (p.Glu1086Lys)
NM_000081.4(LYST):c.3259G>A (p.Glu1087Lys)
NM_000081.4(LYST):c.3261A>G (p.Glu1087=)
NM_000081.4(LYST):c.3267G>A (p.Lys1089=)
NM_000081.4(LYST):c.326A>T (p.Glu109Val)
NM_000081.4(LYST):c.3273T>C (p.Phe1091=)
NM_000081.4(LYST):c.3282A>G (p.Gln1094=)
NM_000081.4(LYST):c.3286A>G (p.Ser1096Gly)
NM_000081.4(LYST):c.3287G>A (p.Ser1096Asn)
NM_000081.4(LYST):c.3293C>T (p.Thr1098Ile)
NM_000081.4(LYST):c.3294C>T (p.Thr1098=)
NM_000081.4(LYST):c.3299T>C (p.Leu1100Pro)
NM_000081.4(LYST):c.3301_3302insCAGGATTTAAACAGAATTTCTCAACCTAAGAGAACTATGAAGGAAGATTTATTATCTTTGGCTATAA (p.Gln1101delinsProGlyPheLysGlnAsnPheSerThrTer)
NM_000081.4(LYST):c.3303A>G (p.Gln1101=)
NM_000081.4(LYST):c.3306T>C (p.Ser1102=)
NM_000081.4(LYST):c.3315T>A (p.Leu1105=)
NM_000081.4(LYST):c.331A>G (p.Asn111Asp)
NM_000081.4(LYST):c.3324C>T (p.Ala1108=)
NM_000081.4(LYST):c.3325C>G (p.Leu1109Val)
NM_000081.4(LYST):c.3331G>A (p.Ala1111Thr)
NM_000081.4(LYST):c.3333C>T (p.Ala1111=)
NM_000081.4(LYST):c.333C>T (p.Asn111=)
NM_000081.4(LYST):c.3345T>A (p.His1115Gln)
NM_000081.4(LYST):c.3352A>C (p.Arg1118=)
NM_000081.4(LYST):c.3362A>G (p.Gln1121Arg)
NM_000081.4(LYST):c.3370A>G (p.Met1124Val)
NM_000081.4(LYST):c.3375_3380del (p.1125_1126EL[1])
NM_000081.4(LYST):c.3378G>A (p.Leu1126=)
NM_000081.4(LYST):c.3381G>A (p.Glu1127=)
NM_000081.4(LYST):c.3386C>A (p.Pro1129His)
NM_000081.4(LYST):c.3387T>G (p.Pro1129=)
NM_000081.4(LYST):c.3392A>G (p.Gln1131Arg)
NM_000081.4(LYST):c.3393+11G>C
NM_000081.4(LYST):c.3393+19T>C
NM_000081.4(LYST):c.3394-11T>C
NM_000081.4(LYST):c.3394-12A>G
NM_000081.4(LYST):c.3394-14_3394-13del
NM_000081.4(LYST):c.3394-17C>T
NM_000081.4(LYST):c.3394-19C>T
NM_000081.4(LYST):c.3394-4T>G
NM_000081.4(LYST):c.3394-5C>T
NM_000081.4(LYST):c.3394-6C>T
NM_000081.4(LYST):c.3394-8T>A
NM_000081.4(LYST):c.3394-8T>G
NM_000081.4(LYST):c.3397T>C (p.Leu1133=)
NM_000081.4(LYST):c.3401C>T (p.Ser1134Phe)
NM_000081.4(LYST):c.3403G>A (p.Val1135Met)
NM_000081.4(LYST):c.3408A>G (p.Glu1136=)
NM_000081.4(LYST):c.3413T>C (p.Ile1138Thr)
NM_000081.4(LYST):c.3418T>C (p.Phe1140Leu)
NM_000081.4(LYST):c.3429G>A (p.Arg1143=)
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3436C>T (p.Leu1146Phe)
NM_000081.4(LYST):c.343C>G (p.Gln115Glu)
NM_000081.4(LYST):c.3448A>G (p.Lys1150Glu)
NM_000081.4(LYST):c.3451G>C (p.Val1151Leu)
NM_000081.4(LYST):c.3453G>A (p.Val1151=)
NM_000081.4(LYST):c.3453G>T (p.Val1151=)
NM_000081.4(LYST):c.3455T>C (p.Ile1152Thr)
NM_000081.4(LYST):c.345A>G (p.Gln115=)
NM_000081.4(LYST):c.3467T>C (p.Leu1156Pro)
NM_000081.4(LYST):c.3474G>T (p.Lys1158Asn)
NM_000081.4(LYST):c.3480A>G (p.Leu1160=)
NM_000081.4(LYST):c.3483T>C (p.Phe1161=)
NM_000081.4(LYST):c.348A>G (p.Arg116=)
NM_000081.4(LYST):c.3497G>A (p.Arg1166Gln)
NM_000081.4(LYST):c.3498A>G (p.Arg1166=)
NM_000081.4(LYST):c.3499G>A (p.Val1167Ile)
NM_000081.4(LYST):c.3501T>G (p.Val1167=)
NM_000081.4(LYST):c.3505C>A (p.Leu1169Ile)
NM_000081.4(LYST):c.3505C>G (p.Leu1169Val)
NM_000081.4(LYST):c.3505C>T (p.Leu1169Phe)
NM_000081.4(LYST):c.3508G>A (p.Gly1170Arg)
NM_000081.4(LYST):c.3515A>T (p.Tyr1172Phe)
NM_000081.4(LYST):c.3516T>C (p.Tyr1172=)
NM_000081.4(LYST):c.3518C>T (p.Ser1173Leu)
NM_000081.4(LYST):c.3529_3531del (p.Glu1177del)
NM_000081.4(LYST):c.3536A>G (p.Asn1179Ser)
NM_000081.4(LYST):c.353C>T (p.Thr118Ile)
NM_000081.4(LYST):c.3544A>G (p.Met1182Val)
NM_000081.4(LYST):c.3549T>G (p.Thr1183=)
NM_000081.4(LYST):c.3553A>G (p.Lys1185Glu)
NM_000081.4(LYST):c.3555+10A>G
NM_000081.4(LYST):c.3555+12A>T
NM_000081.4(LYST):c.3555+17A>G
NM_000081.4(LYST):c.3555+18T>C
NM_000081.4(LYST):c.3555+19A>G
NM_000081.4(LYST):c.3556-13C>T
NM_000081.4(LYST):c.3556-18A>C
NM_000081.4(LYST):c.3556-4A>C
NM_000081.4(LYST):c.3556-4A>G
NM_000081.4(LYST):c.3556-6T>C
NM_000081.4(LYST):c.3564A>G (p.Gln1188=)
NM_000081.4(LYST):c.3571G>A (p.Glu1191Lys)
NM_000081.4(LYST):c.3573A>C (p.Glu1191Asp)
NM_000081.4(LYST):c.3574G>T (p.Glu1192Ter)
NM_000081.4(LYST):c.3577T>C (p.Leu1193=)
NM_000081.4(LYST):c.3579G>A (p.Leu1193=)
NM_000081.4(LYST):c.3588G>A (p.Gln1196=)
NM_000081.4(LYST):c.3591T>G (p.Pro1197=)
NM_000081.4(LYST):c.3596A>G (p.Asp1199Gly)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3605AAG[1] (p.Glu1203del)
NM_000081.4(LYST):c.360A>G (p.Glu120=)
NM_000081.4(LYST):c.3613G>A (p.Glu1205Lys)
NM_000081.4(LYST):c.3616G>C (p.Asp1206His)
NM_000081.4(LYST):c.3620C>T (p.Ser1207Phe)
NM_000081.4(LYST):c.3624G>A (p.Gln1208=)
NM_000081.4(LYST):c.3624G>C (p.Gln1208His)
NM_000081.4(LYST):c.3626G>A (p.Cys1209Tyr)
NM_000081.4(LYST):c.3630T>C (p.Cys1210=)
NM_000081.4(LYST):c.3631A>C (p.Ser1211Arg)
NM_000081.4(LYST):c.3643T>C (p.Leu1215=)
NM_000081.4(LYST):c.3643T>G (p.Leu1215Val)
NM_000081.4(LYST):c.3644T>C (p.Leu1215Ser)
NM_000081.4(LYST):c.3646G>A (p.Val1216Ile)
NM_000081.4(LYST):c.3647T>C (p.Val1216Ala)
NM_000081.4(LYST):c.3650AAG[2] (p.Glu1219del) rs770679237
NM_000081.4(LYST):c.3651A>G (p.Glu1217=)
NM_000081.4(LYST):c.3655G>A (p.Glu1219Lys)
NM_000081.4(LYST):c.3658G>A (p.Gly1220Ser)
NM_000081.4(LYST):c.3659G>T (p.Gly1220Val)
NM_000081.4(LYST):c.3663C>T (p.Tyr1221=)
NM_000081.4(LYST):c.3675T>C (p.Ser1225=)
NM_000081.4(LYST):c.367C>T (p.His123Tyr)
NM_000081.4(LYST):c.3692A>T (p.Asp1231Val)
NM_000081.4(LYST):c.3695G>A (p.Gly1232Asp)
NM_000081.4(LYST):c.3696C>T (p.Gly1232=)
NM_000081.4(LYST):c.3697G>A (p.Glu1233Lys)
NM_000081.4(LYST):c.3703C>A (p.Gln1235Lys)
NM_000081.4(LYST):c.3704A>C (p.Gln1235Pro)
NM_000081.4(LYST):c.3712+12T>C
NM_000081.4(LYST):c.3712+13T>C
NM_000081.4(LYST):c.3712+13T>G
NM_000081.4(LYST):c.3712+14G>A
NM_000081.4(LYST):c.3712+19G>A
NM_000081.4(LYST):c.3712+9T>C
NM_000081.4(LYST):c.3713-11T>C
NM_000081.4(LYST):c.3713-12T>C
NM_000081.4(LYST):c.3713-16G>A
NM_000081.4(LYST):c.3713-17C>T
NM_000081.4(LYST):c.3713-2A>C
NM_000081.4(LYST):c.3713-4T>G
NM_000081.4(LYST):c.3713-8C>G
NM_000081.4(LYST):c.3713G>A (p.Gly1238Glu)
NM_000081.4(LYST):c.3714G>A (p.Gly1238=)
NM_000081.4(LYST):c.3728C>A (p.Ser1243Tyr)
NM_000081.4(LYST):c.3729T>C (p.Ser1243=)
NM_000081.4(LYST):c.372A>G (p.Leu124=)
NM_000081.4(LYST):c.3730G>C (p.Glu1244Gln)
NM_000081.4(LYST):c.3736_3737del (p.Glu1246fs)
NM_000081.4(LYST):c.3739G>C (p.Gly1247Arg)
NM_000081.4(LYST):c.3746G>A (p.Ser1249Asn)
NM_000081.4(LYST):c.3754A>G (p.Ser1252Gly)
NM_000081.4(LYST):c.3757A>C (p.Ser1253Arg)
NM_000081.4(LYST):c.3762A>C (p.Pro1254=)
NM_000081.4(LYST):c.3762A>G (p.Pro1254=)
NM_000081.4(LYST):c.3765T>C (p.Asn1255=)
NM_000081.4(LYST):c.3770T>A (p.Leu1257Ter)
NM_000081.4(LYST):c.3774C>T (p.Leu1258=)
NM_000081.4(LYST):c.3775G>A (p.Glu1259Lys)
NM_000081.4(LYST):c.3780C>T (p.Asn1260=)
NM_000081.4(LYST):c.3783C>A (p.Leu1261=)
NM_000081.4(LYST):c.3789A>C (p.Gln1263His)
NM_000081.4(LYST):c.3795A>T (p.Glu1265Asp)
NM_000081.4(LYST):c.37C>T (p.Leu13=)
NM_000081.4(LYST):c.3801T>A (p.Ile1267=)
NM_000081.4(LYST):c.3813T>A (p.Ile1271=)
NM_000081.4(LYST):c.3813T>C (p.Ile1271=)
NM_000081.4(LYST):c.3817_3821dup (p.Glu1275fs)
NM_000081.4(LYST):c.3824A>G (p.Glu1275Gly)
NM_000081.4(LYST):c.3831T>C (p.Asn1277=)
NM_000081.4(LYST):c.3834G>C (p.Leu1278Phe)
NM_000081.4(LYST):c.3837T>C (p.Leu1279=)
NM_000081.4(LYST):c.383C>A (p.Ala128Asp)
NM_000081.4(LYST):c.3844A>G (p.Ser1282Gly)
NM_000081.4(LYST):c.3850G>C (p.Ala1284Pro)
NM_000081.4(LYST):c.3851C>T (p.Ala1284Val)
NM_000081.4(LYST):c.3852C>A (p.Ala1284=)
NM_000081.4(LYST):c.3862G>A (p.Val1288Met)
NM_000081.4(LYST):c.3885T>A (p.Ser1295Arg)
NM_000081.4(LYST):c.388T>A (p.Ser130Thr)
NM_000081.4(LYST):c.3906G>A (p.Gln1302=)
NM_000081.4(LYST):c.3909A>G (p.Lys1303=)
NM_000081.4(LYST):c.3910del (p.Glu1304fs)
NM_000081.4(LYST):c.3911A>G (p.Glu1304Gly)
NM_000081.4(LYST):c.3912A>G (p.Glu1304=)
NM_000081.4(LYST):c.3924T>C (p.Phe1308=)
NM_000081.4(LYST):c.3939+11C>A
NM_000081.4(LYST):c.3939+11C>T
NM_000081.4(LYST):c.3939+12A>G
NM_000081.4(LYST):c.3939+17G>A
NM_000081.4(LYST):c.3939+7A>C
NM_000081.4(LYST):c.3939+8A>T
NM_000081.4(LYST):c.3939+9T>A
NM_000081.4(LYST):c.3940-10T>A
NM_000081.4(LYST):c.3940-12T>G
NM_000081.4(LYST):c.3940-16T>A
NM_000081.4(LYST):c.3940-17dup
NM_000081.4(LYST):c.3940-18A>G
NM_000081.4(LYST):c.3940-9A>G
NM_000081.4(LYST):c.3943A>C (p.Thr1315Pro)
NM_000081.4(LYST):c.3945T>G (p.Thr1315=)
NM_000081.4(LYST):c.3958T>A (p.Leu1320Ile)
NM_000081.4(LYST):c.3958T>C (p.Leu1320=)
NM_000081.4(LYST):c.395A>G (p.Gln132Arg)
NM_000081.4(LYST):c.3960A>G (p.Leu1320=)
NM_000081.4(LYST):c.3965G>T (p.Gly1322Val)
NM_000081.4(LYST):c.3966G>C (p.Gly1322=)
NM_000081.4(LYST):c.3966G>T (p.Gly1322=)
NM_000081.4(LYST):c.3970T>C (p.Leu1324=)
NM_000081.4(LYST):c.3971T>C (p.Leu1324Ser)
NM_000081.4(LYST):c.3972G>T (p.Leu1324Phe)
NM_000081.4(LYST):c.3989A>G (p.Asp1330Gly)
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
NM_000081.4(LYST):c.3996T>G (p.Ser1332=)
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.3997G>C (p.Asp1333His)
NM_000081.4(LYST):c.39G>A (p.Leu13=)
NM_000081.4(LYST):c.4002T>C (p.Phe1334=)
NM_000081.4(LYST):c.4005A>T (p.Gln1335His)
NM_000081.4(LYST):c.4006+12C>G
NM_000081.4(LYST):c.4006+13T>C
NM_000081.4(LYST):c.4006+14G>A
NM_000081.4(LYST):c.4006+14_4006+15del
NM_000081.4(LYST):c.4006+15T>G
NM_000081.4(LYST):c.4006+16T>C
NM_000081.4(LYST):c.4006+17T>C
NM_000081.4(LYST):c.4006+9A>G
NM_000081.4(LYST):c.4007-12T>G
NM_000081.4(LYST):c.4007-12dup
NM_000081.4(LYST):c.4007-13_4007-12del
NM_000081.4(LYST):c.4007-17C>T
NM_000081.4(LYST):c.4007-20dup
NM_000081.4(LYST):c.4008A>G (p.Ala1336=)
NM_000081.4(LYST):c.4020A>G (p.Val1340=)
NM_000081.4(LYST):c.4032T>G (p.Leu1344=)
NM_000081.4(LYST):c.4033T>C (p.Leu1345=)
NM_000081.4(LYST):c.4044G>A (p.Leu1348=)
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
NM_000081.4(LYST):c.4054A>G (p.Arg1352Gly)
NM_000081.4(LYST):c.4056A>G (p.Arg1352=)
NM_000081.4(LYST):c.4058C>T (p.Thr1353Ile)
NM_000081.4(LYST):c.4059A>G (p.Thr1353=)
NM_000081.4(LYST):c.4069G>A (p.Glu1357Lys)
NM_000081.4(LYST):c.406A>G (p.Lys136Glu)
NM_000081.4(LYST):c.4071G>C (p.Glu1357Asp)
NM_000081.4(LYST):c.4072C>T (p.Leu1358=)
NM_000081.4(LYST):c.4075A>G (p.Thr1359Ala)
NM_000081.4(LYST):c.4077C>T (p.Thr1359=)
NM_000081.4(LYST):c.4081C>T (p.Leu1361Phe)
NM_000081.4(LYST):c.4084T>G (p.Leu1362Val)
NM_000081.4(LYST):c.4095T>C (p.Phe1365=)
NM_000081.4(LYST):c.4099G>A (p.Glu1367Lys)
NM_000081.4(LYST):c.4100A>G (p.Glu1367Gly)
NM_000081.4(LYST):c.4101G>A (p.Glu1367=)
NM_000081.4(LYST):c.4108C>G (p.Pro1370Ala)
NM_000081.4(LYST):c.4110T>G (p.Pro1370=)
NM_000081.4(LYST):c.4112G>A (p.Cys1371Tyr)
NM_000081.4(LYST):c.4116+12A>G
NM_000081.4(LYST):c.4116+15A>G
NM_000081.4(LYST):c.4116+17T>G
NM_000081.4(LYST):c.4117-12C>T
NM_000081.4(LYST):c.4117-17T>C
NM_000081.4(LYST):c.4117-18G>C
NM_000081.4(LYST):c.4117-18_4117-15del
NM_000081.4(LYST):c.4117-7T>C
NM_000081.4(LYST):c.4123C>A (p.Leu1375Ile)
NM_000081.4(LYST):c.4128T>C (p.Leu1376=)
NM_000081.4(LYST):c.4129C>T (p.Leu1377=)
NM_000081.4(LYST):c.4131G>T (p.Leu1377=)
NM_000081.4(LYST):c.4132G>A (p.Gly1378Ser)
NM_000081.4(LYST):c.4133G>T (p.Gly1378Val)
NM_000081.4(LYST):c.4161T>C (p.Thr1387=)
NM_000081.4(LYST):c.4162A>G (p.Thr1388Ala)
NM_000081.4(LYST):c.4165A>G (p.Met1389Val)
NM_000081.4(LYST):c.4170C>T (p.Ser1390=)
NM_000081.4(LYST):c.4185A>G (p.Leu1395=)
NM_000081.4(LYST):c.4187C>G (p.Thr1396Ser)
NM_000081.4(LYST):c.4188C>T (p.Thr1396=)
NM_000081.4(LYST):c.418T>C (p.Phe140Leu)
NM_000081.4(LYST):c.4200G>A (p.Leu1400=)
NM_000081.4(LYST):c.4201C>T (p.His1401Tyr)
NM_000081.4(LYST):c.4203C>T (p.His1401=)
NM_000081.4(LYST):c.4204G>A (p.Ala1402Thr)
NM_000081.4(LYST):c.420T>C (p.Phe140=)
NM_000081.4(LYST):c.421C>T (p.Arg141Ter)
NM_000081.4(LYST):c.4221C>T (p.Asn1407=)
NM_000081.4(LYST):c.4222G>A (p.Gly1408Ser)
NM_000081.4(LYST):c.4224T>C (p.Gly1408=)
NM_000081.4(LYST):c.4228T>A (p.Ser1410Thr)
NM_000081.4(LYST):c.422G>A (p.Arg141Gln)
NM_000081.4(LYST):c.4230A>C (p.Ser1410=)
NM_000081.4(LYST):c.4235A>G (p.Gln1412Arg)
NM_000081.4(LYST):c.4239G>A (p.Lys1413=)
NM_000081.4(LYST):c.4241A>G (p.Tyr1414Cys)
NM_000081.4(LYST):c.4245T>G (p.Pro1415=)
NM_000081.4(LYST):c.4247G>A (p.Gly1416Glu)
NM_000081.4(LYST):c.4264del (p.Ala1422fs)
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
NM_000081.4(LYST):c.4271G>A (p.Gly1424Asp)
NM_000081.4(LYST):c.4275A>G (p.Leu1425=)
NM_000081.4(LYST):c.427A>C (p.Ser143Arg)
NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter) rs1468055437
NM_000081.4(LYST):c.4289G>A (p.Arg1430Gln)
NM_000081.4(LYST):c.4293T>G (p.Val1431=)
NM_000081.4(LYST):c.4297C>A (p.Arg1433=)
NM_000081.4(LYST):c.4297C>T (p.Arg1433Trp)
NM_000081.4(LYST):c.4298G>A (p.Arg1433Gln)
NM_000081.4(LYST):c.42C>T (p.Thr14=)
NM_000081.4(LYST):c.4300A>C (p.Ser1434Arg)
NM_000081.4(LYST):c.4309G>A (p.Glu1437Lys)
NM_000081.4(LYST):c.4311G>A (p.Glu1437=)
NM_000081.4(LYST):c.4317T>C (p.Asp1439=)
NM_000081.4(LYST):c.431GAC[1] (p.Arg145del)
NM_000081.4(LYST):c.4322_4325del (p.Glu1441fs)
NM_000081.4(LYST):c.4325G>A (p.Ser1442Asn) rs1271144759
NM_000081.4(LYST):c.432A>G (p.Arg144=)
NM_000081.4(LYST):c.4330C>T (p.Pro1444Ser)
NM_000081.4(LYST):c.4338G>A (p.Arg1446=)
NM_000081.4(LYST):c.433C>T (p.Arg145Ter)
NM_000081.4(LYST):c.4347A>G (p.Ser1449=)
NM_000081.4(LYST):c.434G>A (p.Arg145Gln)
NM_000081.4(LYST):c.4357A>G (p.Ile1453Val)
NM_000081.4(LYST):c.4360G>T (p.Ala1454Ser)
NM_000081.4(LYST):c.4371C>T (p.His1457=)
NM_000081.4(LYST):c.4376C>T (p.Pro1459Leu)
NM_000081.4(LYST):c.4377G>A (p.Pro1459=)
NM_000081.4(LYST):c.4380G>T (p.Leu1460Phe) rs768247031
NM_000081.4(LYST):c.4381C>T (p.Leu1461=)
NM_000081.4(LYST):c.4386G>A (p.Gly1462=) rs1572270183
NM_000081.4(LYST):c.438G>A (p.Gln146=)
NM_000081.4(LYST):c.4395C>T (p.Cys1465=)
NM_000081.4(LYST):c.4397G>T (p.Trp1466Leu)
NM_000081.4(LYST):c.439C>T (p.Arg147Cys)
NM_000081.4(LYST):c.43G>A (p.Asp15Asn)
NM_000081.4(LYST):c.4403A>G (p.His1468Arg)
NM_000081.4(LYST):c.4404C>T (p.His1468=)
NM_000081.4(LYST):c.4416T>C (p.Gly1472=)
NM_000081.4(LYST):c.4421G>A (p.Ser1474Asn)
NM_000081.4(LYST):c.4421G>C (p.Ser1474Thr)
NM_000081.4(LYST):c.4428C>G (p.Ser1476=)
NM_000081.4(LYST):c.4429C>T (p.Leu1477=)
NM_000081.4(LYST):c.4433G>A (p.Trp1478Ter)
NM_000081.4(LYST):c.4434G>A (p.Trp1478Ter)
NM_000081.4(LYST):c.4440T>C (p.Asn1480=)
NM_000081.4(LYST):c.4446G>A (p.Glu1482=)
NM_000081.4(LYST):c.4448G>A (p.Cys1483Tyr)
NM_000081.4(LYST):c.4449T>C (p.Cys1483=)
NM_000081.4(LYST):c.4450A>G (p.Ile1484Val)
NM_000081.4(LYST):c.4469del (p.Thr1490fs)
NM_000081.4(LYST):c.446T>C (p.Ile149Thr)
NM_000081.4(LYST):c.4479del (p.Gly1494fs)
NM_000081.4(LYST):c.4484A>G (p.Lys1495Arg)
NM_000081.4(LYST):c.4485G>C (p.Lys1495Asn)
NM_000081.4(LYST):c.4487A>C (p.Lys1496Thr)
NM_000081.4(LYST):c.4488G>T (p.Lys1496Asn)
NM_000081.4(LYST):c.4498_4502del (p.Arg1500fs)
NM_000081.4(LYST):c.449C>T (p.Thr150Ile)
NM_000081.4(LYST):c.4501A>C (p.Asn1501His)
NM_000081.4(LYST):c.4503C>T (p.Asn1501=)
NM_000081.4(LYST):c.4508C>T (p.Ser1503Leu)
NM_000081.4(LYST):c.4529G>C (p.Ser1510Thr)
NM_000081.4(LYST):c.452A>G (p.His151Arg)
NM_000081.4(LYST):c.4538G>A (p.Gly1513Asp)
NM_000081.4(LYST):c.4543+10C>T
NM_000081.4(LYST):c.4543+13G>C
NM_000081.4(LYST):c.4543+14A>T
NM_000081.4(LYST):c.4543+17A>T
NM_000081.4(LYST):c.4544-10T>C
NM_000081.4(LYST):c.4544-11T>G
NM_000081.4(LYST):c.4544-15A>G
NM_000081.4(LYST):c.4544-18A>G
NM_000081.4(LYST):c.4544-18A>T
NM_000081.4(LYST):c.4544-19T>C
NM_000081.4(LYST):c.4544-5T>C
NM_000081.4(LYST):c.4545G>A (p.Glu1515=)
NM_000081.4(LYST):c.4545G>C (p.Glu1515Asp)
NM_000081.4(LYST):c.4548C>A (p.Ser1516Arg)
NM_000081.4(LYST):c.4549G>A (p.Asp1517Asn)
NM_000081.4(LYST):c.4551C>T (p.Asp1517=)
NM_000081.4(LYST):c.455G>A (p.Arg152His)
NM_000081.4(LYST):c.4577A>G (p.Asn1526Ser)
NM_000081.4(LYST):c.4578T>C (p.Asn1526=)
NM_000081.4(LYST):c.4588A>G (p.Arg1530Gly)
NM_000081.4(LYST):c.4589G>C (p.Arg1530Thr)
NM_000081.4(LYST):c.4590A>T (p.Arg1530Ser)
NM_000081.4(LYST):c.4593C>T (p.Leu1531=)
NM_000081.4(LYST):c.45T>C (p.Asp15=) rs1675833748
NM_000081.4(LYST):c.4615A>G (p.Ile1539Val)
NM_000081.4(LYST):c.4620T>C (p.Ile1540=)
NM_000081.4(LYST):c.4621T>A (p.Ser1541Thr)
NM_000081.4(LYST):c.4629A>C (p.Gly1543=)
NM_000081.4(LYST):c.4637C>G (p.Ala1546Gly)
NM_000081.4(LYST):c.4638G>A (p.Ala1546=)
NM_000081.4(LYST):c.4639T>C (p.Leu1547=)
NM_000081.4(LYST):c.4647C>T (p.Ile1549=)
NM_000081.4(LYST):c.4649A>G (p.Gln1550Arg)
NM_000081.4(LYST):c.4651G>A (p.Val1551Met)
NM_000081.4(LYST):c.465_466del (p.Asp157fs)
NM_000081.4(LYST):c.4661A>T (p.Asp1554Val)
NM_000081.4(LYST):c.4665C>T (p.Pro1555=)
NM_000081.4(LYST):c.4670A>G (p.Asn1557Ser)
NM_000081.4(LYST):c.4676C>T (p.Thr1559Ile)
NM_000081.4(LYST):c.4677T>C (p.Thr1559=)
NM_000081.4(LYST):c.4678C>T (p.Leu1560Phe)
NM_000081.4(LYST):c.4682T>C (p.Ile1561Thr)
NM_000081.4(LYST):c.4688+10A>G
NM_000081.4(LYST):c.4688+12C>T
NM_000081.4(LYST):c.4688+14T>C
NM_000081.4(LYST):c.4688+15C>G
NM_000081.4(LYST):c.4688+15C>T
NM_000081.4(LYST):c.4688+19C>A
NM_000081.4(LYST):c.4688+6G>A
NM_000081.4(LYST):c.4688G>A (p.Arg1563His) rs80338657
NM_000081.4(LYST):c.4689-12C>T
NM_000081.4(LYST):c.4689-13T>G
NM_000081.4(LYST):c.4689-17T>C
NM_000081.4(LYST):c.4689-18T>A
NM_000081.4(LYST):c.4689-20C>T
NM_000081.4(LYST):c.4689-4G>A
NM_000081.4(LYST):c.4689-7T>C rs1572256602
NM_000081.4(LYST):c.4690G>A (p.Val1564Met)
NM_000081.4(LYST):c.4692G>C (p.Val1564=)
NM_000081.4(LYST):c.4696A>T (p.Met1566Leu)
NM_000081.4(LYST):c.4705A>G (p.Asn1569Asp)
NM_000081.4(LYST):c.4710T>C (p.Asp1570=)
NM_000081.4(LYST):c.4713C>T (p.Asp1571=)
NM_000081.4(LYST):c.4716G>A (p.Met1572Ile)
NM_000081.4(LYST):c.4719A>G (p.Lys1573=)
NM_000081.4(LYST):c.471T>C (p.Asp157=)
NM_000081.4(LYST):c.4720G>A (p.Ala1574Thr)
NM_000081.4(LYST):c.4728A>G (p.Leu1576=)
NM_000081.4(LYST):c.4729C>T (p.Leu1577=)
NM_000081.4(LYST):c.4734A>G (p.Ala1578=)
NM_000081.4(LYST):c.474A>G (p.Ala158=)
NM_000081.4(LYST):c.4754A>G (p.Asn1585Ser)
NM_000081.4(LYST):c.4755T>C (p.Asn1585=)
NM_000081.4(LYST):c.4758T>A (p.Ile1586=)
NM_000081.4(LYST):c.4771A>G (p.Lys1591Glu)
NM_000081.4(LYST):c.4773A>G (p.Lys1591=)
NM_000081.4(LYST):c.4779A>G (p.Gln1593=)
NM_000081.4(LYST):c.477A>G (p.Arg159=)
NM_000081.4(LYST):c.4786G>A (p.Val1596Ile)
NM_000081.4(LYST):c.4791C>T (p.Leu1597=)
NM_000081.4(LYST):c.4793C>A (p.Thr1598Asn)
NM_000081.4(LYST):c.4793C>G (p.Thr1598Ser)
NM_000081.4(LYST):c.4793C>T (p.Thr1598Ile)
NM_000081.4(LYST):c.4801C>A (p.Gln1601Lys)
NM_000081.4(LYST):c.4803G>T (p.Gln1601His)
NM_000081.4(LYST):c.4805A>C (p.Gln1602Pro)
NM_000081.4(LYST):c.4808C>T (p.Pro1603Leu)
NM_000081.4(LYST):c.4812A>G (p.Gln1604=)
NM_000081.4(LYST):c.4815G>A (p.Gly1605=)
NM_000081.4(LYST):c.4833G>A (p.Gly1611=)
NM_000081.4(LYST):c.4836A>G (p.Lys1612=)
NM_000081.4(LYST):c.4839C>T (p.Ile1613=)
NM_000081.4(LYST):c.483A>G (p.Thr161=)
NM_000081.4(LYST):c.4845A>G (p.Ile1615Met)
NM_000081.4(LYST):c.4851C>G (p.Val1617=)
NM_000081.4(LYST):c.4851C>T (p.Val1617=)
NM_000081.4(LYST):c.4853C>G (p.Ser1618Cys)
NM_000081.4(LYST):c.4862+12T>C
NM_000081.4(LYST):c.4862+2T>A
NM_000081.4(LYST):c.4862+3A>G
NM_000081.4(LYST):c.4863-11T>G
NM_000081.4(LYST):c.4863-13G>C
NM_000081.4(LYST):c.4863-1G>C
NM_000081.4(LYST):c.4866G>T (p.Lys1622Asn)
NM_000081.4(LYST):c.4872T>C (p.Asp1624=)
NM_000081.4(LYST):c.4873G>A (p.Val1625Ile)
NM_000081.4(LYST):c.4876A>C (p.Thr1626Pro)
NM_000081.4(LYST):c.4876A>G (p.Thr1626Ala)
NM_000081.4(LYST):c.4886T>G (p.Phe1629Cys)
NM_000081.4(LYST):c.4893T>C (p.Leu1631=)
NM_000081.4(LYST):c.4896A>G (p.Pro1632=)
NM_000081.4(LYST):c.48C>T (p.Val16=)
NM_000081.4(LYST):c.4900A>T (p.Lys1634Ter)
NM_000081.4(LYST):c.4904C>G (p.Thr1635Arg)
NM_000081.4(LYST):c.4904C>T (p.Thr1635Ile)
NM_000081.4(LYST):c.4905A>G (p.Thr1635=)
NM_000081.4(LYST):c.4920T>G (p.Asp1640Glu)
NM_000081.4(LYST):c.4929A>G (p.Lys1643=) rs750662250
NM_000081.4(LYST):c.4932A>G (p.Thr1644=)
NM_000081.4(LYST):c.4938C>T (p.Cys1646=)
NM_000081.4(LYST):c.4952G>C (p.Cys1651Ser)
NM_000081.4(LYST):c.4953T>C (p.Cys1651=)
NM_000081.4(LYST):c.4972T>C (p.Phe1658Leu)
NM_000081.4(LYST):c.4972T>G (p.Phe1658Val)
NM_000081.4(LYST):c.4978C>T (p.Gln1660Ter)
NM_000081.4(LYST):c.4982T>C (p.Leu1661Ser)
NM_000081.4(LYST):c.4984G>A (p.Ala1662Thr)
NM_000081.4(LYST):c.4986T>C (p.Ala1662=)
NM_000081.4(LYST):c.4992A>G (p.Lys1664=)
NM_000081.4(LYST):c.4996G>A (p.Asp1666Asn)
NM_000081.4(LYST):c.4999C>T (p.Leu1667=)
NM_000081.4(LYST):c.5008T>C (p.Leu1670=)
NM_000081.4(LYST):c.5013T>C (p.Leu1671=)
NM_000081.4(LYST):c.5016C>T (p.Leu1672=)
NM_000081.4(LYST):c.5019C>A (p.Phe1673Leu)
NM_000081.4(LYST):c.5020A>G (p.Asn1674Asp)
NM_000081.4(LYST):c.5022C>T (p.Asn1674=)
NM_000081.4(LYST):c.5023+12A>G
NM_000081.4(LYST):c.5023+14G>A
NM_000081.4(LYST):c.5023+15A>G
NM_000081.4(LYST):c.5023+1G>A
NM_000081.4(LYST):c.5023+3G>A
NM_000081.4(LYST):c.5024-12del
NM_000081.4(LYST):c.5024-16T>C
NM_000081.4(LYST):c.5024-6A>G
NM_000081.4(LYST):c.5024-8C>T
NM_000081.4(LYST):c.5024-9G>A
NM_000081.4(LYST):c.5025A>G (p.Gly1675=)
NM_000081.4(LYST):c.5026G>A (p.Ala1676Thr)
NM_000081.4(LYST):c.5029A>G (p.Lys1677Glu)
NM_000081.4(LYST):c.5031G>A (p.Lys1677=)
NM_000081.4(LYST):c.5052T>C (p.Phe1684=)
NM_000081.4(LYST):c.5053T>C (p.Tyr1685His)
NM_000081.4(LYST):c.5058G>A (p.Leu1686=) rs780562886
NM_000081.4(LYST):c.5064T>C (p.Ala1688=)
NM_000081.4(LYST):c.5075A>G (p.Asn1692Ser)
NM_000081.4(LYST):c.5082A>T (p.Thr1694=)
NM_000081.4(LYST):c.5094A>G (p.Pro1698=)
NM_000081.4(LYST):c.50A>G (p.Asn17Ser)
NM_000081.4(LYST):c.5100G>A (p.Lys1700=)
NM_000081.4(LYST):c.5104G>A (p.Gly1702Ser)
NM_000081.4(LYST):c.5112A>G (p.Pro1704=)
NM_000081.4(LYST):c.5112A>T (p.Pro1704=)
NM_000081.4(LYST):c.5113_5115del (p.Val1705del)
NM_000081.4(LYST):c.5115C>G (p.Val1705=)
NM_000081.4(LYST):c.5115C>T (p.Val1705=)
NM_000081.4(LYST):c.5117A>G (p.Asn1706Ser)
NM_000081.4(LYST):c.5124C>T (p.Tyr1708=)
NM_000081.4(LYST):c.5129A>G (p.Lys1710Arg)
NM_000081.4(LYST):c.5133T>C (p.Tyr1711=)
NM_000081.4(LYST):c.5135T>C (p.Ile1712Thr)
NM_000081.4(LYST):c.5136T>C (p.Ile1712=)
NM_000081.4(LYST):c.5144A>C (p.Glu1715Ala)
NM_000081.4(LYST):c.5151G>A (p.Leu1717=)
NM_000081.4(LYST):c.5153G>A (p.Arg1718Gln)
NM_000081.4(LYST):c.5157T>C (p.Cys1719=)
NM_000081.4(LYST):c.517G>C (p.Asp173His)
NM_000081.4(LYST):c.5183C>T (p.Thr1728Ile)
NM_000081.4(LYST):c.5185A>G (p.Lys1729Glu)
NM_000081.4(LYST):c.5186A>T (p.Lys1729Met)
NM_000081.4(LYST):c.5190A>G (p.Lys1730=)
NM_000081.4(LYST):c.5191G>T (p.Asp1731Tyr)
NM_000081.4(LYST):c.5193T>C (p.Asp1731=)
NM_000081.4(LYST):c.5195T>C (p.Val1732Ala)
NM_000081.4(LYST):c.5199T>C (p.Asp1733=)
NM_000081.4(LYST):c.519T>C (p.Asp173=)
NM_000081.4(LYST):c.5200A>G (p.Ile1734Val)
NM_000081.4(LYST):c.5209T>C (p.Leu1737=)
NM_000081.4(LYST):c.5214+11A>G
NM_000081.4(LYST):c.5214+12T>C
NM_000081.4(LYST):c.5214+14T>G
NM_000081.4(LYST):c.5214+15T>G
NM_000081.4(LYST):c.5214+1G>C
NM_000081.4(LYST):c.5214+3A>G
NM_000081.4(LYST):c.5214+5G>C
NM_000081.4(LYST):c.5214+9T>C
NM_000081.4(LYST):c.5215-11T>C
NM_000081.4(LYST):c.5215-12T>C
NM_000081.4(LYST):c.5215-14T>C
NM_000081.4(LYST):c.5215-7A>G
NM_000081.4(LYST):c.5215-9G>C
NM_000081.4(LYST):c.5226A>G (p.Ser1742=)
NM_000081.4(LYST):c.5229T>C (p.Val1743=)
NM_000081.4(LYST):c.5235T>C (p.Tyr1745=)
NM_000081.4(LYST):c.5247T>C (p.Cys1749=)
NM_000081.4(LYST):c.5254C>G (p.Gln1752Glu)
NM_000081.4(LYST):c.5256G>A (p.Gln1752=)
NM_000081.4(LYST):c.5256G>C (p.Gln1752His)
NM_000081.4(LYST):c.5259T>C (p.Tyr1753=)
NM_000081.4(LYST):c.5263A>G (p.Ile1755Val)
NM_000081.4(LYST):c.5265C>T (p.Ile1755=)
NM_000081.4(LYST):c.5271A>G (p.Glu1757=)
NM_000081.4(LYST):c.5274A>G (p.Pro1758=)
NM_000081.4(LYST):c.5277G>A (p.Val1759=)
NM_000081.4(LYST):c.527G>A (p.Gly176Asp)
NM_000081.4(LYST):c.5280T>G (p.Ile1760Met)
NM_000081.4(LYST):c.5281A>C (p.Arg1761=)
NM_000081.4(LYST):c.5290G>A (p.Gly1764Ser)
NM_000081.4(LYST):c.5291G>A (p.Gly1764Asp) rs35413645
NM_000081.4(LYST):c.5291G>T (p.Gly1764Val)
NM_000081.4(LYST):c.5293C>G (p.Gln1765Glu)
NM_000081.4(LYST):c.5298G>A (p.Met1766Ile)
NM_000081.4(LYST):c.52C>T (p.Arg18Trp)
NM_000081.4(LYST):c.5307A>G (p.Gln1769=)
NM_000081.4(LYST):c.5315A>G (p.Gln1772Arg)
NM_000081.4(LYST):c.5322C>T (p.Pro1774=)
NM_000081.4(LYST):c.5323T>C (p.Phe1775Leu)
NM_000081.4(LYST):c.5325C>A (p.Phe1775Leu)
NM_000081.4(LYST):c.5333AAG[1] (p.Glu1779del)
NM_000081.4(LYST):c.5334A>G (p.Lys1778=)
NM_000081.4(LYST):c.5349C>T (p.Ile1783=)
NM_000081.4(LYST):c.534A>G (p.Ala178=)
NM_000081.4(LYST):c.5351_5352insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGAGCATCTT (p.Leu1784delinsPhePhePhePhePhePhePheXaaXaaXaaXaaSerTer)
NM_000081.4(LYST):c.5352A>G (p.Leu1784=)
NM_000081.4(LYST):c.5353T>C (p.Leu1785=)
NM_000081.4(LYST):c.5363A>G (p.His1788Arg)
NM_000081.4(LYST):c.5365C>A (p.His1789Asn)
NM_000081.4(LYST):c.5368C>T (p.Leu1790=)
NM_000081.4(LYST):c.5370A>G (p.Leu1790=)
NM_000081.4(LYST):c.5373_5374delinsAG (p.Asn1792Asp)
NM_000081.4(LYST):c.5375A>T (p.Asn1792Ile)
NM_000081.4(LYST):c.5382A>G (p.Gln1794=)
NM_000081.4(LYST):c.5384C>T (p.Pro1795Leu)
NM_000081.4(LYST):c.5392T>C (p.Tyr1798His)
NM_000081.4(LYST):c.53G>A (p.Arg18Gln)
NM_000081.4(LYST):c.5414T>A (p.Leu1805Gln)
NM_000081.4(LYST):c.5415G>A (p.Leu1805=)
NM_000081.4(LYST):c.5419G>A (p.Glu1807Lys)
NM_000081.4(LYST):c.5432C>A (p.Thr1811Asn)
NM_000081.4(LYST):c.5435G>A (p.Gly1812Asp)
NM_000081.4(LYST):c.5437A>C (p.Ile1813Leu)
NM_000081.4(LYST):c.5437A>G (p.Ile1813Val)
NM_000081.4(LYST):c.543G>C (p.Lys181Asn)
NM_000081.4(LYST):c.5448T>C (p.Phe1816=)
NM_000081.4(LYST):c.544C>G (p.His182Asp)
NM_000081.4(LYST):c.5451C>T (p.Leu1817=)
NM_000081.4(LYST):c.5455G>T (p.Ala1819Ser)
NM_000081.4(LYST):c.5456C>T (p.Ala1819Val)
NM_000081.4(LYST):c.5460+11C>T
NM_000081.4(LYST):c.5460+7A>G
NM_000081.4(LYST):c.5461-12T>C
NM_000081.4(LYST):c.5461-13T>A
NM_000081.4(LYST):c.5461-13_5461-12dup rs557545474
NM_000081.4(LYST):c.5461-14A>G
NM_000081.4(LYST):c.5461-14A>T
NM_000081.4(LYST):c.5461-15C>A
NM_000081.4(LYST):c.5461-15C>T
NM_000081.4(LYST):c.5461-16C>A
NM_000081.4(LYST):c.5461-3del rs557545474
NM_000081.4(LYST):c.5461-3dup rs557545474
NM_000081.4(LYST):c.5461-5T>C
NM_000081.4(LYST):c.5461-9T>A
NM_000081.4(LYST):c.5463T>G (p.Val1821=)
NM_000081.4(LYST):c.5466T>G (p.Val1822=)
NM_000081.4(LYST):c.5472C>G (p.Leu1824=)
NM_000081.4(LYST):c.5472C>T (p.Leu1824=)
NM_000081.4(LYST):c.5475T>C (p.Ser1825=)
NM_000081.4(LYST):c.5479T>C (p.Cys1827Arg)
NM_000081.4(LYST):c.5488A>T (p.Thr1830Ser)
NM_000081.4(LYST):c.5491C>G (p.Gln1831Glu)
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.5496A>G (p.Ala1832=)
NM_000081.4(LYST):c.54G>A (p.Arg18=)
NM_000081.4(LYST):c.5505G>A (p.Leu1835=)
NM_000081.4(LYST):c.5506C>A (p.Arg1836=)
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
NM_000081.4(LYST):c.5507G>A (p.Arg1836Gln)
NM_000081.4(LYST):c.5508A>G (p.Arg1836=)
NM_000081.4(LYST):c.5511T>C (p.Val1837=)
NM_000081.4(LYST):c.5513T>C (p.Ile1838Thr)
NM_000081.4(LYST):c.5519C>G (p.Ser1840Ter)
NM_000081.4(LYST):c.5520A>G (p.Ser1840=)
NM_000081.4(LYST):c.5533A>G (p.Asn1845Asp)
NM_000081.4(LYST):c.5544A>G (p.Arg1848=)
NM_000081.4(LYST):c.5549A>G (p.His1850Arg)
NM_000081.4(LYST):c.555C>T (p.Pro185=)
NM_000081.4(LYST):c.5562T>C (p.Asn1854=)
NM_000081.4(LYST):c.5574T>C (p.Leu1858=)
NM_000081.4(LYST):c.5577T>A (p.Ser1859=)
NM_000081.4(LYST):c.5578A>C (p.Met1860Leu)
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
NM_000081.4(LYST):c.5588A>G (p.Gln1863Arg)
NM_000081.4(LYST):c.5590G>T (p.Val1864Leu) rs139694536
NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)
NM_000081.4(LYST):c.5611A>C (p.Ile1871Leu)
NM_000081.4(LYST):c.5614G>A (p.Val1872Ile)
NM_000081.4(LYST):c.5619G>A (p.Gly1873=)
NM_000081.4(LYST):c.5619G>C (p.Gly1873=)
NM_000081.4(LYST):c.561G>A (p.Leu187=)
NM_000081.4(LYST):c.5625C>T (p.Tyr1875=)
NM_000081.4(LYST):c.5634+11A>G
NM_000081.4(LYST):c.5634+16A>G
NM_000081.4(LYST):c.5634+17T>G
NM_000081.4(LYST):c.5634+18T>G
NM_000081.4(LYST):c.5634+20A>G
NM_000081.4(LYST):c.5634+8T>A
NM_000081.4(LYST):c.5634+9T>C
NM_000081.4(LYST):c.5635-13T>C
NM_000081.4(LYST):c.5635-14C>T
NM_000081.4(LYST):c.5635-17A>T
NM_000081.4(LYST):c.5635-18A>G
NM_000081.4(LYST):c.5635-6C>G
NM_000081.4(LYST):c.5636C>A (p.Thr1879Asn)
NM_000081.4(LYST):c.5648G>T (p.Gly1883Val)
NM_000081.4(LYST):c.5661A>G (p.Glu1887=)
NM_000081.4(LYST):c.5664T>C (p.Asp1888=)
NM_000081.4(LYST):c.5668A>G (p.Ile1890Val)
NM_000081.4(LYST):c.5674A>G (p.Met1892Val)
NM_000081.4(LYST):c.5676G>A (p.Met1892Ile)
NM_000081.4(LYST):c.5685T>C (p.Asn1895=)
NM_000081.4(LYST):c.5687G>A (p.Gly1896Glu)
NM_000081.4(LYST):c.5689G>A (p.Glu1897Lys)
NM_000081.4(LYST):c.5696A>C (p.Lys1899Thr)
NM_000081.4(LYST):c.5701G>A (p.Asp1901Asn)
NM_000081.4(LYST):c.5704G>A (p.Val1902Ile)
NM_000081.4(LYST):c.5706A>C (p.Val1902=)
NM_000081.4(LYST):c.5707G>A (p.Asp1903Asn)
NM_000081.4(LYST):c.5709C>T (p.Asp1903=)
NM_000081.4(LYST):c.5712T>C (p.Ser1904=)
NM_000081.4(LYST):c.5715T>C (p.Asn1905=)
NM_000081.4(LYST):c.5718T>A (p.Ala1906=)
NM_000081.4(LYST):c.5719A>G (p.Ile1907Val)
NM_000081.4(LYST):c.5733T>C (p.Val1911=)
NM_000081.4(LYST):c.5736G>A (p.Lys1912=)
NM_000081.4(LYST):c.5748A>G (p.Glu1916=)
NM_000081.4(LYST):c.5749C>T (p.Leu1917=)
NM_000081.4(LYST):c.5751A>G (p.Leu1917=)
NM_000081.4(LYST):c.5751A>T (p.Leu1917=)
NM_000081.4(LYST):c.5752T>C (p.Leu1918=)
NM_000081.4(LYST):c.5754G>A (p.Leu1918=)
NM_000081.4(LYST):c.5755C>T (p.Leu1919Phe)
NM_000081.4(LYST):c.575del (p.Phe191_Leu192insTer)
NM_000081.4(LYST):c.575dup (p.Leu192fs)
NM_000081.4(LYST):c.5766G>A (p.Lys1922=)
NM_000081.4(LYST):c.5774G>A (p.Ser1925Asn)
NM_000081.4(LYST):c.5775T>C (p.Ser1925=)
NM_000081.4(LYST):c.5776A>G (p.Lys1926Glu)
NM_000081.4(LYST):c.5784+11T>C
NM_000081.4(LYST):c.5784+12G>A
NM_000081.4(LYST):c.5784+15C>T
NM_000081.4(LYST):c.5784+16T>C
NM_000081.4(LYST):c.5784+18T>C
NM_000081.4(LYST):c.5785-16G>A
NM_000081.4(LYST):c.5785-18G>A
NM_000081.4(LYST):c.5785-19T>C
NM_000081.4(LYST):c.5785-4T>C
NM_000081.4(LYST):c.5785-6C>T
NM_000081.4(LYST):c.5785C>T (p.Gln1929Ter)
NM_000081.4(LYST):c.5789G>A (p.Gly1930Asp)
NM_000081.4(LYST):c.5793T>C (p.Val1931=)
NM_000081.4(LYST):c.579A>G (p.Thr193=)
NM_000081.4(LYST):c.579A>T (p.Thr193=)
NM_000081.4(LYST):c.5800A>G (p.Thr1934Ala)
NM_000081.4(LYST):c.5802T>G (p.Thr1934=)
NM_000081.4(LYST):c.5808A>G (p.Leu1936=)
NM_000081.4(LYST):c.5810C>A (p.Ala1937Glu)
NM_000081.4(LYST):c.5817A>G (p.Leu1939=)
NM_000081.4(LYST):c.581C>T (p.Ser194Leu)
NM_000081.4(LYST):c.5820A>G (p.Glu1940=)
NM_000081.4(LYST):c.5823C>T (p.Val1941=)
NM_000081.4(LYST):c.5826C>T (p.Leu1942=)
NM_000081.4(LYST):c.5829C>T (p.Ile1943=)
NM_000081.4(LYST):c.582G>A (p.Ser194=)
NM_000081.4(LYST):c.582G>T (p.Ser194=)
NM_000081.4(LYST):c.5835A>G (p.Ala1945=)
NM_000081.4(LYST):c.5841C>T (p.His1947=)
NM_000081.4(LYST):c.5842C>T (p.His1948Tyr)
NM_000081.4(LYST):c.5847G>A (p.Gln1949=)
NM_000081.4(LYST):c.5864A>G (p.Lys1955Arg)
NM_000081.4(LYST):c.5866C>T (p.Gln1956Ter)
NM_000081.4(LYST):c.586C>G (p.Pro196Ala)
NM_000081.4(LYST):c.586C>T (p.Pro196Ser)
NM_000081.4(LYST):c.5881C>T (p.Gln1961Ter)
NM_000081.4(LYST):c.5883A>G (p.Gln1961=)
NM_000081.4(LYST):c.5890C>T (p.His1964Tyr)
NM_000081.4(LYST):c.5892T>C (p.His1964=) rs1412343430
NM_000081.4(LYST):c.5905A>C (p.Thr1969Pro)
NM_000081.4(LYST):c.5912A>G (p.Gln1971Arg)
NM_000081.4(LYST):c.5920C>G (p.Gln1974Glu)
NM_000081.4(LYST):c.5922+10A>C rs375422713
NM_000081.4(LYST):c.5922+10A>G rs375422713
NM_000081.4(LYST):c.5922+10A>T
NM_000081.4(LYST):c.5922+11T>C
NM_000081.4(LYST):c.5922+12G>A
NM_000081.4(LYST):c.5922+13T>C
NM_000081.4(LYST):c.5922+15del
NM_000081.4(LYST):c.5922+19T>C
NM_000081.4(LYST):c.5922+9C>T
NM_000081.4(LYST):c.5923-11T>A
NM_000081.4(LYST):c.5923-11del
NM_000081.4(LYST):c.5923-11dup
NM_000081.4(LYST):c.5923-12T>C
NM_000081.4(LYST):c.5923-17T>A
NM_000081.4(LYST):c.5923-18T>G
NM_000081.4(LYST):c.5923-19G>C
NM_000081.4(LYST):c.5923-1G>A
NM_000081.4(LYST):c.5923-20A>C
NM_000081.4(LYST):c.5923-2A>G
NM_000081.4(LYST):c.5923-4dup
NM_000081.4(LYST):c.5923-8T>A
NM_000081.4(LYST):c.5925A>G (p.Glu1975=)
NM_000081.4(LYST):c.5927A>G (p.Tyr1976Cys)
NM_000081.4(LYST):c.5935G>A (p.Gly1979Arg)
NM_000081.4(LYST):c.5937G>A (p.Gly1979=)
NM_000081.4(LYST):c.5940A>G (p.Gln1980=)
NM_000081.4(LYST):c.5954C>G (p.Pro1985Arg)
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.4(LYST):c.5957G>A (p.Arg1986Gln)
NM_000081.4(LYST):c.5961G>A (p.Glu1987=)
NM_000081.4(LYST):c.5967T>C (p.Cys1989=)
NM_000081.4(LYST):c.5971T>C (p.Ser1991Pro)
NM_000081.4(LYST):c.5973A>T (p.Ser1991=)
NM_000081.4(LYST):c.5979G>T (p.Val1993=)
NM_000081.4(LYST):c.5987T>C (p.Ile1996Thr)
NM_000081.4(LYST):c.5989G>A (p.Ala1997Thr)
NM_000081.4(LYST):c.5991A>G (p.Ala1997=)
NM_000081.4(LYST):c.6006T>A (p.Ser2002=)
NM_000081.4(LYST):c.6019G>A (p.Glu2007Lys)
NM_000081.4(LYST):c.6021A>G (p.Glu2007=)
NM_000081.4(LYST):c.6031A>G (p.Ile2011Val)
NM_000081.4(LYST):c.6045C>T (p.Phe2015=)
NM_000081.4(LYST):c.6053C>T (p.Ala2018Val)
NM_000081.4(LYST):c.6058C>T (p.His2020Tyr)
NM_000081.4(LYST):c.6063T>G (p.Pro2021=)
NM_000081.4(LYST):c.6065C>T (p.Pro2022Leu)
NM_000081.4(LYST):c.6066T>C (p.Pro2022=)
NM_000081.4(LYST):c.6072T>C (p.Asn2024=)
NM_000081.4(LYST):c.6077dup (p.Tyr2026Ter)
NM_000081.4(LYST):c.6078C>G (p.Tyr2026Ter)
NM_000081.4(LYST):c.6079G>A (p.Val2027Ile)
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
NM_000081.4(LYST):c.607G>C (p.Ala203Pro)
NM_000081.4(LYST):c.6087C>T (p.His2029=)
NM_000081.4(LYST):c.6089A>G (p.Asn2030Ser)
NM_000081.4(LYST):c.6096G>A (p.Thr2032=)
NM_000081.4(LYST):c.6097A>C (p.Asn2033His)
NM_000081.4(LYST):c.6098A>G (p.Asn2033Ser)
NM_000081.4(LYST):c.6108T>C (p.Phe2036=)
NM_000081.4(LYST):c.6113T>C (p.Leu2038Ser)
NM_000081.4(LYST):c.6118A>G (p.Ile2040Val)
NM_000081.4(LYST):c.6121+13A>G
NM_000081.4(LYST):c.6121+5G>A
NM_000081.4(LYST):c.6121+5del
NM_000081.4(LYST):c.6122-11T>A
NM_000081.4(LYST):c.6122-11T>G
NM_000081.4(LYST):c.6122-13A>T
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000081.4(LYST):c.6122-13dup
NM_000081.4(LYST):c.6122-14A>C
NM_000081.4(LYST):c.6122-19A>C
NM_000081.4(LYST):c.6122-4C>A
NM_000081.4(LYST):c.6122-8G>A
NM_000081.4(LYST):c.6128A>G (p.Lys2043Arg)
NM_000081.4(LYST):c.6132C>T (p.Ile2044=)
NM_000081.4(LYST):c.6135T>C (p.Phe2045=)
NM_000081.4(LYST):c.6141G>A (p.Glu2047=)
NM_000081.4(LYST):c.6144A>G (p.Lys2048=)
NM_000081.4(LYST):c.6148C>T (p.Arg2050Trp)
NM_000081.4(LYST):c.6153A>C (p.Ser2051=)
NM_000081.4(LYST):c.6154A>C (p.Ile2052Leu)
NM_000081.4(LYST):c.6154A>G (p.Ile2052Val)
NM_000081.4(LYST):c.615T>G (p.Leu205=)
NM_000081.4(LYST):c.6162C>T (p.Tyr2054=)
NM_000081.4(LYST):c.6163C>A (p.Leu2055Met)
NM_000081.4(LYST):c.6168G>A (p.Arg2056=)
NM_000081.4(LYST):c.6170A>G (p.His2057Arg)
NM_000081.4(LYST):c.6176G>A (p.Ser2059Asn)
NM_000081.4(LYST):c.6184G>A (p.Gly2062Arg)
NM_000081.4(LYST):c.6185G>C (p.Gly2062Ala)
NM_000081.4(LYST):c.6187A>C (p.Arg2063=)
NM_000081.4(LYST):c.6187del (p.Arg2063fs)
NM_000081.4(LYST):c.6188G>A (p.Arg2063Lys)
NM_000081.4(LYST):c.6189G>A (p.Arg2063=)
NM_000081.4(LYST):c.6189G>T (p.Arg2063Ser)
NM_000081.4(LYST):c.6192C>T (p.Ser2064=)
NM_000081.4(LYST):c.619C>T (p.Arg207Cys)
NM_000081.4(LYST):c.6201C>T (p.Ser2067=)
NM_000081.4(LYST):c.6203C>T (p.Pro2068Leu)
NM_000081.4(LYST):c.6204T>C (p.Pro2068=)
NM_000081.4(LYST):c.620G>A (p.Arg207His)
NM_000081.4(LYST):c.6213G>A (p.Met2071Ile)
NM_000081.4(LYST):c.6214G>C (p.Val2072Leu)
NM_000081.4(LYST):c.6217A>G (p.Ile2073Val)
NM_000081.4(LYST):c.6224C>T (p.Pro2075Leu)
NM_000081.4(LYST):c.6225A>T (p.Pro2075=)
NM_000081.4(LYST):c.6229G>A (p.Gly2077Ser)
NM_000081.4(LYST):c.6238G>A (p.Ala2080Thr)
NM_000081.4(LYST):c.6238G>C (p.Ala2080Pro)
NM_000081.4(LYST):c.6246A>G (p.Pro2082=)
NM_000081.4(LYST):c.624A>G (p.Leu208=)
NM_000081.4(LYST):c.6253+11C>T
NM_000081.4(LYST):c.6253+13A>G
NM_000081.4(LYST):c.6253+14T>A
NM_000081.4(LYST):c.6253+18G>A
NM_000081.4(LYST):c.6253+19G>C
NM_000081.4(LYST):c.6253+19G>T
NM_000081.4(LYST):c.6254-11A>G
NM_000081.4(LYST):c.6254-12T>C
NM_000081.4(LYST):c.6254-13C>G
NM_000081.4(LYST):c.6254-17G>A
NM_000081.4(LYST):c.6254-17G>T
NM_000081.4(LYST):c.6254-1G>C
NM_000081.4(LYST):c.6254-4C>A
NM_000081.4(LYST):c.6254-9T>C
NM_000081.4(LYST):c.6255A>G (p.Gly2085=)
NM_000081.4(LYST):c.6260A>G (p.Asn2087Ser)
NM_000081.4(LYST):c.6266C>A (p.Ser2089Tyr)
NM_000081.4(LYST):c.6266C>G (p.Ser2089Cys)
NM_000081.4(LYST):c.6279A>G (p.Pro2093=)
NM_000081.4(LYST):c.6283C>T (p.Gln2095Ter)
NM_000081.4(LYST):c.6288G>A (p.Met2096Ile)
NM_000081.4(LYST):c.6299T>C (p.Met2100Thr)
NM_000081.4(LYST):c.6305G>A (p.Arg2102His)
NM_000081.4(LYST):c.630C>G (p.Thr210=)
NM_000081.4(LYST):c.6316C>T (p.Leu2106=)
NM_000081.4(LYST):c.631A>G (p.Lys211Glu)
NM_000081.4(LYST):c.6324A>T (p.Ala2108=)
NM_000081.4(LYST):c.6331A>G (p.Thr2111Ala)
NM_000081.4(LYST):c.6331A>T (p.Thr2111Ser)
NM_000081.4(LYST):c.6333T>G (p.Thr2111=)
NM_000081.4(LYST):c.6342A>G (p.Leu2114=)
NM_000081.4(LYST):c.6345A>G (p.Leu2115=)
NM_000081.4(LYST):c.6347C>T (p.Thr2116Met)
NM_000081.4(LYST):c.6348G>A (p.Thr2116=)
NM_000081.4(LYST):c.6351A>G (p.Gln2117=)
NM_000081.4(LYST):c.6357A>G (p.Gln2119=)
NM_000081.4(LYST):c.6366T>A (p.Thr2122=)
NM_000081.4(LYST):c.6380G>A (p.Cys2127Tyr)
NM_000081.4(LYST):c.6390C>T (p.Asp2130=)
NM_000081.4(LYST):c.6396A>G (p.Leu2132=)
NM_000081.4(LYST):c.6397C>T (p.Gln2133Ter)
NM_000081.4(LYST):c.6413C>T (p.Thr2138Ile)
NM_000081.4(LYST):c.6417T>C (p.Tyr2139=)
NM_000081.4(LYST):c.6426C>T (p.Thr2142=)
NM_000081.4(LYST):c.6427C>T (p.Gln2143Ter)
NM_000081.4(LYST):c.6440A>G (p.Gln2147Arg)
NM_000081.4(LYST):c.6441A>G (p.Gln2147=)
NM_000081.4(LYST):c.6445T>A (p.Ser2149Thr)
NM_000081.4(LYST):c.6445T>G (p.Ser2149Ala)
NM_000081.4(LYST):c.6446C>A (p.Ser2149Tyr)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000081.4(LYST):c.6456T>C (p.Ser2152=)
NM_000081.4(LYST):c.6458C>A (p.Ser2153Tyr)
NM_000081.4(LYST):c.6459C>T (p.Ser2153=)
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
NM_000081.4(LYST):c.6462C>T (p.Asp2154=)
NM_000081.4(LYST):c.6465A>G (p.Thr2155=)
NM_000081.4(LYST):c.646C>T (p.Pro216Ser)
NM_000081.4(LYST):c.6476G>A (p.Gly2159Asp)
NM_000081.4(LYST):c.6479A>G (p.Lys2160Arg)
NM_000081.4(LYST):c.6480A>G (p.Lys2160=)
NM_000081.4(LYST):c.6486C>T (p.Asp2162=)
NM_000081.4(LYST):c.6489A>G (p.Ala2163=)
NM_000081.4(LYST):c.6493A>G (p.Ile2165Val)
NM_000081.4(LYST):c.6494T>C (p.Ile2165Thr)
NM_000081.4(LYST):c.6496A>G (p.Ser2166Gly)
NM_000081.4(LYST):c.6498T>C (p.Ser2166=)
NM_000081.4(LYST):c.6505G>A (p.Glu2169Lys)
NM_000081.4(LYST):c.650A>T (p.Asp217Val)
NM_000081.4(LYST):c.6519T>C (p.Thr2173=)
NM_000081.4(LYST):c.6519T>G (p.Thr2173=)
NM_000081.4(LYST):c.6528A>G (p.Glu2176=)
NM_000081.4(LYST):c.6545C>T (p.Ser2182Leu)
NM_000081.4(LYST):c.6549C>T (p.Ala2183=)
NM_000081.4(LYST):c.6552G>A (p.Gln2184=)
NM_000081.4(LYST):c.6556T>C (p.Ser2186Pro)
NM_000081.4(LYST):c.655A>G (p.Met219Val)
NM_000081.4(LYST):c.6562A>G (p.Ser2188Gly)
NM_000081.4(LYST):c.6565G>A (p.Asp2189Asn)
NM_000081.4(LYST):c.6567T>G (p.Asp2189Glu)
NM_000081.4(LYST):c.6569T>A (p.Val2190Asp)
NM_000081.4(LYST):c.6569T>G (p.Val2190Gly)
NM_000081.4(LYST):c.656T>C (p.Met219Thr)
NM_000081.4(LYST):c.6570C>T (p.Val2190=) rs1572170906
NM_000081.4(LYST):c.6572C>T (p.Pro2191Leu)
NM_000081.4(LYST):c.6577G>C (p.Gly2193Arg)
NM_000081.4(LYST):c.6580G>T (p.Val2194Leu)
NM_000081.4(LYST):c.6585G>A (p.Leu2195=)
NM_000081.4(LYST):c.6587G>C (p.Gly2196Ala)
NM_000081.4(LYST):c.6593C>A (p.Pro2198Gln)
NM_000081.4(LYST):c.6595G>C (p.Val2199Leu)
NM_000081.4(LYST):c.6595G>T (p.Val2199Leu)
NM_000081.4(LYST):c.6597G>C (p.Val2199=)
NM_000081.4(LYST):c.6600C>G (p.Val2200=)
NM_000081.4(LYST):c.6614A>C (p.Lys2205Thr)
NM_000081.4(LYST):c.6619T>C (p.Leu2207=)
NM_000081.4(LYST):c.6624A>T (p.Gly2208=)
NM_000081.4(LYST):c.6633C>T (p.Pro2211=)
NM_000081.4(LYST):c.6636G>C (p.Arg2212Ser)
NM_000081.4(LYST):c.6642A>G (p.Glu2214=)
NM_000081.4(LYST):c.6645T>C (p.Asp2215=)
NM_000081.4(LYST):c.6646G>C (p.Asp2216His)
NM_000081.4(LYST):c.6648C>T (p.Asp2216=)
NM_000081.4(LYST):c.6653C>G (p.Pro2218Arg)
NM_000081.4(LYST):c.6656G>A (p.Gly2219Glu)
NM_000081.4(LYST):c.6663G>A (p.Glu2221=)
NM_000081.4(LYST):c.6669C>T (p.Cys2223=)
NM_000081.4(LYST):c.6673C>A (p.Arg2225Ser)
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
NM_000081.4(LYST):c.6674G>A (p.Arg2225His)
NM_000081.4(LYST):c.6674G>T (p.Arg2225Leu)
NM_000081.4(LYST):c.6675C>T (p.Arg2225=)
NM_000081.4(LYST):c.6676C>T (p.Arg2226Ter)
NM_000081.4(LYST):c.6677G>A (p.Arg2226Gln)
NM_000081.4(LYST):c.6695G>A (p.Gly2232Glu)
NM_000081.4(LYST):c.6697T>A (p.Leu2233Met)
NM_000081.4(LYST):c.669T>C (p.Asn223=)
NM_000081.4(LYST):c.66A>C (p.Ala22=) rs757708194
NM_000081.4(LYST):c.66A>G (p.Ala22=)
NM_000081.4(LYST):c.6702C>T (p.Ala2234=)
NM_000081.4(LYST):c.6703T>G (p.Ser2235Ala)
NM_000081.4(LYST):c.6708C>G (p.Phe2236Leu)
NM_000081.4(LYST):c.6710A>G (p.Gln2237Arg)
NM_000081.4(LYST):c.6713G>A (p.Arg2238Gln)
NM_000081.4(LYST):c.6720C>T (p.His2240=)
NM_000081.4(LYST):c.6724A>C (p.Thr2242Pro)
NM_000081.4(LYST):c.6727A>G (p.Ile2243Val)
NM_000081.4(LYST):c.6732A>C (p.Ala2244=)
NM_000081.4(LYST):c.6735C>G (p.Ser2245Arg)
NM_000081.4(LYST):c.6737T>C (p.Leu2246Pro)
NM_000081.4(LYST):c.6744A>G (p.Leu2248=)
NM_000081.4(LYST):c.674G>A (p.Arg225Lys)
NM_000081.4(LYST):c.6750dup (p.Pro2251fs)
NM_000081.4(LYST):c.6756A>G (p.Ser2252=)
NM_000081.4(LYST):c.6762C>T (p.Asn2254=)
NM_000081.4(LYST):c.6764G>C (p.Gly2255Ala)
NM_000081.4(LYST):c.6769G>T (p.Ala2257Ser)
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
NM_000081.4(LYST):c.6775G>A (p.Val2259Ile)
NM_000081.4(LYST):c.6775G>T (p.Val2259Phe)
NM_000081.4(LYST):c.677A>G (p.Glu226Gly)
NM_000081.4(LYST):c.6781C>T (p.Arg2261Cys)
NM_000081.4(LYST):c.6782G>T (p.Arg2261Leu)
NM_000081.4(LYST):c.6786G>T (p.Trp2262Cys)
NM_000081.4(LYST):c.6790A>C (p.Ser2264Arg)
NM_000081.4(LYST):c.6793C>G (p.Leu2265Val)
NM_000081.4(LYST):c.6794TTG[1] (p.Val2266del)
NM_000081.4(LYST):c.6796G>C (p.Val2266Leu)
NM_000081.4(LYST):c.6801T>C (p.Asp2267=)
NM_000081.4(LYST):c.6812A>T (p.Asp2271Val)
NM_000081.4(LYST):c.681T>C (p.Ile227=)
NM_000081.4(LYST):c.6822A>G (p.Glu2274=)
NM_000081.4(LYST):c.6831C>G (p.Ala2277=)
NM_000081.4(LYST):c.6831C>T (p.Ala2277=)
NM_000081.4(LYST):c.6833A>G (p.Tyr2278Cys)
NM_000081.4(LYST):c.6834T>C (p.Tyr2278=)
NM_000081.4(LYST):c.6836C>T (p.Ser2279Phe)
NM_000081.4(LYST):c.6841G>C (p.Gly2281Arg)
NM_000081.4(LYST):c.6845A>G (p.Tyr2282Cys)
NM_000081.4(LYST):c.6845A>T (p.Tyr2282Phe)
NM_000081.4(LYST):c.6847G>A (p.Glu2283Lys)
NM_000081.4(LYST):c.6848A>G (p.Glu2283Gly)
NM_000081.4(LYST):c.6849G>A (p.Glu2283=)
NM_000081.4(LYST):c.6855T>C (p.Asn2285=)
NM_000081.4(LYST):c.6856T>G (p.Tyr2286Asp)
NM_000081.4(LYST):c.6857A>G (p.Tyr2286Cys)
NM_000081.4(LYST):c.685C>A (p.Pro229Thr)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.6863G>A (p.Arg2288Gln)
NM_000081.4(LYST):c.6864A>C (p.Arg2288=)
NM_000081.4(LYST):c.6866C>G (p.Thr2289Ser)
NM_000081.4(LYST):c.6866C>T (p.Thr2289Ile)
NM_000081.4(LYST):c.686C>T (p.Pro229Leu)
NM_000081.4(LYST):c.6871A>C (p.Ser2291Arg)
NM_000081.4(LYST):c.6878A>G (p.His2293Arg)
NM_000081.4(LYST):c.6881+11G>A
NM_000081.4(LYST):c.6881+18T>G
NM_000081.4(LYST):c.6881+19A>G
NM_000081.4(LYST):c.6881+20C>T
NM_000081.4(LYST):c.6881+8T>A
NM_000081.4(LYST):c.6881+9G>A
NM_000081.4(LYST):c.6882-15T>C
NM_000081.4(LYST):c.6882-18T>C
NM_000081.4(LYST):c.6882-19T>C
NM_000081.4(LYST):c.6882-1G>T
NM_000081.4(LYST):c.6882-20T>A
NM_000081.4(LYST):c.6882-4T>G
NM_000081.4(LYST):c.6882-6T>C
NM_000081.4(LYST):c.6894C>T (p.Asp2298=)
NM_000081.4(LYST):c.6898T>G (p.Leu2300Val)
NM_000081.4(LYST):c.6904C>T (p.Pro2302Ser)
NM_000081.4(LYST):c.6905C>T (p.Pro2302Leu)
NM_000081.4(LYST):c.6918A>G (p.Gly2306=)
NM_000081.4(LYST):c.6921A>G (p.Leu2307=)
NM_000081.4(LYST):c.6939G>T (p.Gly2313=)
NM_000081.4(LYST):c.6952C>G (p.Leu2318Val)
NM_000081.4(LYST):c.6952C>T (p.Leu2318=)
NM_000081.4(LYST):c.6953T>G (p.Leu2318Arg)
NM_000081.4(LYST):c.6954G>A (p.Leu2318=)
NM_000081.4(LYST):c.695G>A (p.Gly232Glu)
NM_000081.4(LYST):c.695G>C (p.Gly232Ala)
NM_000081.4(LYST):c.6960T>C (p.Asp2320=)
NM_000081.4(LYST):c.6966G>T (p.Leu2322Phe)
NM_000081.4(LYST):c.696G>A (p.Gly232=)
NM_000081.4(LYST):c.6978G>A (p.Val2326=)
NM_000081.4(LYST):c.6979A>G (p.Met2327Val)
NM_000081.4(LYST):c.6982G>A (p.Asp2328Asn)
NM_000081.4(LYST):c.6986A>G (p.Lys2329Arg)
NM_000081.4(LYST):c.69G>A (p.Val23=)
NM_000081.4(LYST):c.7002T>C (p.Asp2334=)
NM_000081.4(LYST):c.7003A>G (p.Thr2335Ala)
NM_000081.4(LYST):c.700A>G (p.Asn234Asp)
NM_000081.4(LYST):c.7011G>A (p.Leu2337=)
NM_000081.4(LYST):c.7017C>T (p.Leu2339=)
NM_000081.4(LYST):c.7018G>A (p.Val2340Ile)
NM_000081.4(LYST):c.7023C>T (p.Asn2341=)
NM_000081.4(LYST):c.702C>T (p.Asn234=)
NM_000081.4(LYST):c.7032A>G (p.Ser2344=)
NM_000081.4(LYST):c.7035A>G (p.Pro2345=)
NM_000081.4(LYST):c.7038T>A (p.Ala2346=)
NM_000081.4(LYST):c.7059+13A>G
NM_000081.4(LYST):c.7059+14C>T
NM_000081.4(LYST):c.7059+8C>A
NM_000081.4(LYST):c.705T>G (p.Thr235=)
NM_000081.4(LYST):c.7060-10T>C
NM_000081.4(LYST):c.7060-11T>C
NM_000081.4(LYST):c.7060-11T>G
NM_000081.4(LYST):c.7060-12T>A
NM_000081.4(LYST):c.7060-13A>G
NM_000081.4(LYST):c.7060-16T>G
NM_000081.4(LYST):c.7060-19A>G
NM_000081.4(LYST):c.7060-6G>A
NM_000081.4(LYST):c.7060-7T>G
NM_000081.4(LYST):c.7060-8_7060-7del
NM_000081.4(LYST):c.7062A>G (p.Leu2354=)
NM_000081.4(LYST):c.7066G>C (p.Asp2356His)
NM_000081.4(LYST):c.7067A>G (p.Asp2356Gly)
NM_000081.4(LYST):c.7070C>G (p.Ala2357Gly) rs199576020
NM_000081.4(LYST):c.7071A>G (p.Ala2357=)
NM_000081.4(LYST):c.7078G>A (p.Ala2360Thr)
NM_000081.4(LYST):c.7080T>A (p.Ala2360=)
NM_000081.4(LYST):c.7080T>C (p.Ala2360=)
NM_000081.4(LYST):c.7083A>G (p.Arg2361=)
NM_000081.4(LYST):c.708C>T (p.Asp236=)
NM_000081.4(LYST):c.708_719del (p.Asp236_Ser239del)
NM_000081.4(LYST):c.7092G>A (p.Lys2364=)
NM_000081.4(LYST):c.7095A>G (p.Glu2365=)
NM_000081.4(LYST):c.70G>T (p.Val24Phe)
NM_000081.4(LYST):c.7107A>G (p.Lys2369=)
NM_000081.4(LYST):c.7120C>T (p.Arg2374Cys)
NM_000081.4(LYST):c.7121G>A (p.Arg2374His)
NM_000081.4(LYST):c.7125A>G (p.Gly2375=)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.713_714insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGGCGCGGACGGGGAGCCGGGCCCGGAGCCGCCGTCACGGCCGCGACCGCCCCGCGGGGCCGGCCTGGGCCGCGCTCAAACACTGACATTTT (p.Ile237_Leu238insPhePhePhePhePhePhePheXaaXaaXaaXaaGlyArgGlyArgGlyAlaGlyProGlyAlaAlaValThrAlaAlaThrAlaProArgGlyArgProGlyProArgSerAsnThrAspIle)
NM_000081.4(LYST):c.7149G>A (p.Leu2383=)
NM_000081.4(LYST):c.714A>G (p.Leu238=)
NM_000081.4(LYST):c.7157A>G (p.His2386Arg)
NM_000081.4(LYST):c.7158T>C (p.His2386=)
NM_000081.4(LYST):c.7160G>A (p.Arg2387Gln)
NM_000081.4(LYST):c.7168C>T (p.Gln2390Ter)
NM_000081.4(LYST):c.716G>T (p.Ser239Ile)
NM_000081.4(LYST):c.7170A>G (p.Gln2390=)
NM_000081.4(LYST):c.7176G>A (p.Leu2392=)
NM_000081.4(LYST):c.717T>C (p.Ser239=)
NM_000081.4(LYST):c.7181A>G (p.Glu2394Gly)
NM_000081.4(LYST):c.7183T>A (p.Cys2395Ser)
NM_000081.4(LYST):c.7189A>G (p.Ile2397Val)
NM_000081.4(LYST):c.7192G>A (p.Glu2398Lys)
NM_000081.4(LYST):c.7194A>T (p.Glu2398Asp)
NM_000081.4(LYST):c.7197G>A (p.Met2399Ile)
NM_000081.4(LYST):c.7199T>C (p.Phe2400Ser)
NM_000081.4(LYST):c.71T>C (p.Val24Ala)
NM_000081.4(LYST):c.71T>G (p.Val24Gly)
NM_000081.4(LYST):c.7206T>C (p.Gly2402=)
NM_000081.4(LYST):c.7208G>A (p.Arg2403Gln)
NM_000081.4(LYST):c.7210C>T (p.His2404Tyr)
NM_000081.4(LYST):c.7214T>C (p.Ile2405Thr)
NM_000081.4(LYST):c.7217G>A (p.Gly2406Asp)
NM_000081.4(LYST):c.7218C>A (p.Gly2406=)
NM_000081.4(LYST):c.7218C>T (p.Gly2406=)
NM_000081.4(LYST):c.7223A>T (p.Asp2408Val)
NM_000081.4(LYST):c.7225G>A (p.Glu2409Lys)
NM_000081.4(LYST):c.7228G>A (p.Glu2410Lys)
NM_000081.4(LYST):c.7229+13T>C
NM_000081.4(LYST):c.7229+15C>T
NM_000081.4(LYST):c.7229+16C>T
NM_000081.4(LYST):c.7229+18T>G
NM_000081.4(LYST):c.7229+7G>A
NM_000081.4(LYST):c.7229+7G>C
NM_000081.4(LYST):c.7229+8T>C
NM_000081.4(LYST):c.7230-10T>C
NM_000081.4(LYST):c.7230-11A>G
NM_000081.4(LYST):c.7230-11A>T
NM_000081.4(LYST):c.7230-16G>A
NM_000081.4(LYST):c.7230-16_7230-15del
NM_000081.4(LYST):c.7230-3T>G
NM_000081.4(LYST):c.7234G>T (p.Asp2412Tyr)
NM_000081.4(LYST):c.7253A>G (p.Asn2418Ser)
NM_000081.4(LYST):c.7254C>T (p.Asn2418=)
NM_000081.4(LYST):c.7258G>A (p.Gly2420Arg)
NM_000081.4(LYST):c.727G>A (p.Ala243Thr)
NM_000081.4(LYST):c.7284T>A (p.Ile2428=)
NM_000081.4(LYST):c.7291C>T (p.Leu2431=)
NM_000081.4(LYST):c.7299A>C (p.Leu2433=)
NM_000081.4(LYST):c.729C>T (p.Ala243=)
NM_000081.4(LYST):c.72C>T (p.Val24=)
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
NM_000081.4(LYST):c.7311T>A (p.Ser2437=)
NM_000081.4(LYST):c.7311T>G (p.Ser2437=)
NM_000081.4(LYST):c.7314A>G (p.Leu2438=)
NM_000081.4(LYST):c.7314A>T (p.Leu2438=) rs756139684
NM_000081.4(LYST):c.7322A>C (p.Asn2441Thr)
NM_000081.4(LYST):c.7350TCT[1] (p.Leu2452del)
NM_000081.4(LYST):c.736G>C (p.Val246Leu)
NM_000081.4(LYST):c.7370C>A (p.Ser2457Tyr)
NM_000081.4(LYST):c.7385C>A (p.Ala2462Glu)
NM_000081.4(LYST):c.7389T>C (p.Asp2463=)
NM_000081.4(LYST):c.738T>C (p.Val246=)
NM_000081.4(LYST):c.7392G>C (p.Met2464Ile)
NM_000081.4(LYST):c.7392G>T (p.Met2464Ile)
NM_000081.4(LYST):c.7395G>A (p.Leu2465=)
NM_000081.4(LYST):c.7403A>C (p.Asn2468Thr)
NM_000081.4(LYST):c.740T>C (p.Ile247Thr)
NM_000081.4(LYST):c.740_742del (p.Ile247del)
NM_000081.4(LYST):c.7410A>G (p.Leu2470=)
NM_000081.4(LYST):c.7413C>T (p.Leu2471=)
NM_000081.4(LYST):c.7415A>G (p.Tyr2472Cys)
NM_000081.4(LYST):c.741C>T (p.Ile247=)
NM_000081.4(LYST):c.7430C>T (p.Thr2477Ile)
NM_000081.4(LYST):c.7439C>A (p.Ala2480Asp)
NM_000081.4(LYST):c.7443G>A (p.Leu2481=)
NM_000081.4(LYST):c.7447G>A (p.Gly2483Arg)
NM_000081.4(LYST):c.7449A>T (p.Gly2483=)
NM_000081.4(LYST):c.7453G>A (p.Glu2485Lys)
NM_000081.4(LYST):c.7454A>G (p.Glu2485Gly)
NM_000081.4(LYST):c.7457A>G (p.Lys2486Arg)
NM_000081.4(LYST):c.7460+11A>T
NM_000081.4(LYST):c.7460+18A>T
NM_000081.4(LYST):c.7460+19T>C
NM_000081.4(LYST):c.7460+2T>A
NM_000081.4(LYST):c.7460+3_7460+6del
NM_000081.4(LYST):c.7461-11_7461-9del rs777633676
NM_000081.4(LYST):c.7461-14G>C
NM_000081.4(LYST):c.7461-16T>A
NM_000081.4(LYST):c.7461-1G>A
NM_000081.4(LYST):c.7461-5T>C
NM_000081.4(LYST):c.7461-6C>A
NM_000081.4(LYST):c.7461-7T>C
NM_000081.4(LYST):c.7463T>C (p.Ile2488Thr)
NM_000081.4(LYST):c.7485G>A (p.Leu2495=)
NM_000081.4(LYST):c.7489G>A (p.Ala2497Thr)
NM_000081.4(LYST):c.748A>G (p.Met250Val)
NM_000081.4(LYST):c.7491T>C (p.Ala2497=)
NM_000081.4(LYST):c.7494T>G (p.Cys2498Trp)
NM_000081.4(LYST):c.7499del (p.Ile2500fs)
NM_000081.4(LYST):c.74A>G (p.Gln25Arg)
NM_000081.4(LYST):c.7504C>G (p.Gln2502Glu)
NM_000081.4(LYST):c.7515A>G (p.Ile2505Met)
NM_000081.4(LYST):c.7521T>C (p.Val2507=)
NM_000081.4(LYST):c.7525A>G (p.Ile2509Val)
NM_000081.4(LYST):c.7527T>A (p.Ile2509=)
NM_000081.4(LYST):c.7529A>G (p.His2510Arg)
NM_000081.4(LYST):c.7540T>A (p.Ser2514Thr)
NM_000081.4(LYST):c.7541C>T (p.Ser2514Phe)
NM_000081.4(LYST):c.754A>G (p.Asn252Asp)
NM_000081.4(LYST):c.7554A>G (p.Gln2518=)
NM_000081.4(LYST):c.7562G>C (p.Arg2521Thr)
NM_000081.4(LYST):c.7571A>G (p.Glu2524Gly)
NM_000081.4(LYST):c.7576C>T (p.Leu2526Phe)
NM_000081.4(LYST):c.7584A>G (p.Val2528=)
NM_000081.4(LYST):c.7593A>T (p.Gly2531=)
NM_000081.4(LYST):c.7620G>A (p.Arg2540=)
NM_000081.4(LYST):c.7625A>G (p.Gln2542Arg)
NM_000081.4(LYST):c.7627+11A>T
NM_000081.4(LYST):c.7627+14T>G
NM_000081.4(LYST):c.7627+6A>G
NM_000081.4(LYST):c.7627+8T>G
NM_000081.4(LYST):c.7628-20C>A
NM_000081.4(LYST):c.7628-9T>G
NM_000081.4(LYST):c.7629T>C (p.Asn2543=)
NM_000081.4(LYST):c.762A>G (p.Pro254=)
NM_000081.4(LYST):c.7636G>A (p.Val2546Ile)
NM_000081.4(LYST):c.7640C>T (p.Ala2547Val)
NM_000081.4(LYST):c.7641A>C (p.Ala2547=)
NM_000081.4(LYST):c.7641A>G (p.Ala2547=)
NM_000081.4(LYST):c.7644A>G (p.Leu2548=)
NM_000081.4(LYST):c.7659C>G (p.Leu2553=)
NM_000081.4(LYST):c.7659C>T (p.Leu2553=)
NM_000081.4(LYST):c.7661A>G (p.Gln2554Arg)
NM_000081.4(LYST):c.7668T>C (p.Ala2556=)
NM_000081.4(LYST):c.7674A>G (p.Glu2558=)
NM_000081.4(LYST):c.7678A>G (p.Ile2560Val)
NM_000081.4(LYST):c.7686C>T (p.Thr2562=)
NM_000081.4(LYST):c.7688C>T (p.Thr2563Ile)
NM_000081.4(LYST):c.7689C>A (p.Thr2563=)
NM_000081.4(LYST):c.7689C>T (p.Thr2563=)
NM_000081.4(LYST):c.7691C>T (p.Ala2564Val)
NM_000081.4(LYST):c.7697A>C (p.His2566Pro)
NM_000081.4(LYST):c.7697A>G (p.His2566Arg)
NM_000081.4(LYST):c.7698T>C (p.His2566=)
NM_000081.4(LYST):c.7701C>G (p.Asp2567Glu)
NM_000081.4(LYST):c.7707A>G (p.Glu2569=)
NM_000081.4(LYST):c.7714A>G (p.Thr2572Ala)
NM_000081.4(LYST):c.7722A>G (p.Ser2574=) rs1251999777
NM_000081.4(LYST):c.7725C>G (p.Leu2575=)
NM_000081.4(LYST):c.7728G>A (p.Gln2576=)
NM_000081.4(LYST):c.7737T>C (p.Ser2579=)
NM_000081.4(LYST):c.7739C>T (p.Ala2580Val)
NM_000081.4(LYST):c.7743C>T (p.Pro2581=)
NM_000081.4(LYST):c.7744C>T (p.His2582Tyr)
NM_000081.4(LYST):c.7749T>C (p.His2583=)
NM_000081.4(LYST):c.774T>C (p.Cys258=)
NM_000081.4(LYST):c.7751C>T (p.Ala2584Val)
NM_000081.4(LYST):c.7755A>G (p.Val2585=)
NM_000081.4(LYST):c.7756G>C (p.Val2586Leu)
NM_000081.4(LYST):c.7758T>G (p.Val2586=)
NM_000081.4(LYST):c.7766G>A (p.Arg2589Gln)
NM_000081.4(LYST):c.7771A>G (p.Ser2591Gly)
NM_000081.4(LYST):c.7772G>A (p.Ser2591Asn)
NM_000081.4(LYST):c.7773C>T (p.Ser2591=)
NM_000081.4(LYST):c.7774A>T (p.Ile2592Phe)
NM_000081.4(LYST):c.777T>C (p.His259=)
NM_000081.4(LYST):c.7780+11A>C
NM_000081.4(LYST):c.7780+13A>G
NM_000081.4(LYST):c.7780+17T>C
NM_000081.4(LYST):c.7780+3G>A
NM_000081.4(LYST):c.7781-10A>G
NM_000081.4(LYST):c.7781-12A>T
NM_000081.4(LYST):c.7781-16T>C
NM_000081.4(LYST):c.7781-19A>C
NM_000081.4(LYST):c.7781-5T>C
NM_000081.4(LYST):c.7781-6T>A
NM_000081.4(LYST):c.7781-6T>C
NM_000081.4(LYST):c.7781-9C>T
NM_000081.4(LYST):c.7784C>T (p.Pro2595Leu)
NM_000081.4(LYST):c.7786C>T (p.Arg2596Ter)
NM_000081.4(LYST):c.7787G>A (p.Arg2596Gln)
NM_000081.4(LYST):c.7791A>G (p.Lys2597=)
NM_000081.4(LYST):c.7792T>C (p.Phe2598Leu)
NM_000081.4(LYST):c.7798C>T (p.Leu2600Phe)
NM_000081.4(LYST):c.7800T>C (p.Leu2600=)
NM_000081.4(LYST):c.7805A>G (p.Gln2602Arg)
NM_000081.4(LYST):c.7812A>G (p.Glu2604=)
NM_000081.4(LYST):c.7814C>T (p.Ser2605Leu)
NM_000081.4(LYST):c.7815G>C (p.Ser2605=)
NM_000081.4(LYST):c.7830G>T (p.Met2610Ile)
NM_000081.4(LYST):c.7831C>T (p.Arg2611Cys)
NM_000081.4(LYST):c.7832G>A (p.Arg2611His)
NM_000081.4(LYST):c.7834T>C (p.Ser2612Pro)
NM_000081.4(LYST):c.7836A>G (p.Ser2612=)
NM_000081.4(LYST):c.7840G>A (p.Ala2614Thr)
NM_000081.4(LYST):c.7843A>G (p.Asn2615Asp)
NM_000081.4(LYST):c.7845T>C (p.Asn2615=)
NM_000081.4(LYST):c.7846G>T (p.Asp2616Tyr)
NM_000081.4(LYST):c.7856A>G (p.His2619Arg)
NM_000081.4(LYST):c.7859T>C (p.Val2620Ala)
NM_000081.4(LYST):c.7865T>C (p.Met2622Thr)
NM_000081.4(LYST):c.7869A>G (p.Gln2623=)
NM_000081.4(LYST):c.7870C>A (p.Arg2624=)
NM_000081.4(LYST):c.7871G>A (p.Arg2624Gln)
NM_000081.4(LYST):c.7882C>G (p.Gln2628Glu)
NM_000081.4(LYST):c.7890C>T (p.Asn2630=)
NM_000081.4(LYST):c.7893T>C (p.Pro2631=)
NM_000081.4(LYST):c.790T>G (p.Leu264Val)
NM_000081.4(LYST):c.7910C>A (p.Thr2637Lys)
NM_000081.4(LYST):c.7910C>T (p.Thr2637Met)
NM_000081.4(LYST):c.7914A>G (p.Glu2638=)
NM_000081.4(LYST):c.7916T>A (p.Leu2639His)
NM_000081.4(LYST):c.7919C>T (p.Ala2640Val)
NM_000081.4(LYST):c.7920G>A (p.Ala2640=)
NM_000081.4(LYST):c.7922A>G (p.Gln2641Arg)
NM_000081.4(LYST):c.7929A>C (p.Leu2643=)
NM_000081.4(LYST):c.792A>G (p.Leu264=)
NM_000081.4(LYST):c.7931A>G (p.Gln2644Arg)
NM_000081.4(LYST):c.7935G>A (p.Arg2645=)
NM_000081.4(LYST):c.7944T>C (p.Val2648=)
NM_000081.4(LYST):c.7946T>C (p.Leu2649Ser)
NM_000081.4(LYST):c.7957A>G (p.Arg2653Gly)
NM_000081.4(LYST):c.7972+10T>A
NM_000081.4(LYST):c.7972+11A>G
NM_000081.4(LYST):c.7972+12G>A
NM_000081.4(LYST):c.7972+13G>A
NM_000081.4(LYST):c.7972+17A>G
NM_000081.4(LYST):c.7972+7del
NM_000081.4(LYST):c.7972+9A>G
NM_000081.4(LYST):c.7973-11del
NM_000081.4(LYST):c.7973-15T>C
NM_000081.4(LYST):c.7973-16T>A
NM_000081.4(LYST):c.7973-18C>A
NM_000081.4(LYST):c.7973-19T>C
NM_000081.4(LYST):c.7973-5C>G
NM_000081.4(LYST):c.7973-7T>G
NM_000081.4(LYST):c.7974A>C (p.Glu2658Asp)
NM_000081.4(LYST):c.7975T>C (p.Phe2659Leu)
NM_000081.4(LYST):c.797A>G (p.Glu266Gly)
NM_000081.4(LYST):c.7983A>G (p.Ser2661=)
NM_000081.4(LYST):c.7989T>C (p.Ile2663=)
NM_000081.4(LYST):c.7991T>C (p.Ile2664Thr)
NM_000081.4(LYST):c.7994A>G (p.Asp2665Gly)
NM_000081.4(LYST):c.7995C>T (p.Asp2665=)
NM_000081.4(LYST):c.8003G>A (p.Arg2668Lys)
NM_000081.4(LYST):c.8014A>G (p.Asn2672Asp)
NM_000081.4(LYST):c.8016T>C (p.Asn2672=)
NM_000081.4(LYST):c.8025A>G (p.Gln2675=)
NM_000081.4(LYST):c.8032A>T (p.Thr2678Ser)
NM_000081.4(LYST):c.8034C>T (p.Thr2678=)
NM_000081.4(LYST):c.8036C>T (p.Ser2679Leu)
NM_000081.4(LYST):c.8037A>G (p.Ser2679=)
NM_000081.4(LYST):c.8042T>C (p.Phe2681Ser)
NM_000081.4(LYST):c.8047A>T (p.Thr2683Ser)
NM_000081.4(LYST):c.8049C>G (p.Thr2683=)
NM_000081.4(LYST):c.8049C>T (p.Thr2683=)
NM_000081.4(LYST):c.8050G>A (p.Glu2684Lys)
NM_000081.4(LYST):c.8059G>A (p.Glu2687Lys)
NM_000081.4(LYST):c.8061G>A (p.Glu2687=)
NM_000081.4(LYST):c.8065A>G (p.Asn2689Asp)
NM_000081.4(LYST):c.8069T>C (p.Ile2690Thr)
NM_000081.4(LYST):c.8072A>T (p.His2691Leu)
NM_000081.4(LYST):c.8077G>C (p.Glu2693Gln)
NM_000081.4(LYST):c.8079A>G (p.Glu2693=)
NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter)
NM_000081.4(LYST):c.8085T>G (p.Ser2695=)
NM_000081.4(LYST):c.8088T>A (p.Ser2696=)
NM_000081.4(LYST):c.8088T>G (p.Ser2696=)
NM_000081.4(LYST):c.8093T>G (p.Phe2698Cys)
NM_000081.4(LYST):c.8094C>T (p.Phe2698=)
NM_000081.4(LYST):c.8100A>G (p.Pro2700=)
NM_000081.4(LYST):c.8109A>G (p.Lys2703=)
NM_000081.4(LYST):c.810G>A (p.Lys270=)
NM_000081.4(LYST):c.8113A>G (p.Ile2705Val)
NM_000081.4(LYST):c.8121A>G (p.Thr2707=)
NM_000081.4(LYST):c.8121A>T (p.Thr2707=)
NM_000081.4(LYST):c.8122dup (p.Tyr2708fs)
NM_000081.4(LYST):c.8125C>G (p.Leu2709Val)
NM_000081.4(LYST):c.8125C>T (p.Leu2709=)
NM_000081.4(LYST):c.8141A>G (p.Lys2714Arg)
NM_000081.4(LYST):c.8146T>G (p.Ser2716Ala)
NM_000081.4(LYST):c.8151+10T>C
NM_000081.4(LYST):c.8151+15T>C
NM_000081.4(LYST):c.8151+9_8151+13del
NM_000081.4(LYST):c.8152-14T>C
NM_000081.4(LYST):c.8152-17A>G
NM_000081.4(LYST):c.8152-20C>T
NM_000081.4(LYST):c.8152-5T>G
NM_000081.4(LYST):c.8152-7A>C
NM_000081.4(LYST):c.8152-8G>A
NM_000081.4(LYST):c.8156C>G (p.Ser2719Ter)
NM_000081.4(LYST):c.8157A>T (p.Ser2719=)
NM_000081.4(LYST):c.8161A>G (p.Lys2721Glu) rs762099794
NM_000081.4(LYST):c.816C>T (p.Asp272=)
NM_000081.4(LYST):c.8175C>G (p.Ser2725=)
NM_000081.4(LYST):c.8181G>A (p.Gln2727=)
NM_000081.4(LYST):c.8184A>G (p.Gln2728=)
NM_000081.4(LYST):c.8190T>C (p.Thr2730=)
NM_000081.4(LYST):c.8196T>G (p.Ile2732Met)
NM_000081.4(LYST):c.8208T>C (p.Cys2736=)
NM_000081.4(LYST):c.8211G>A (p.Lys2737=)
NM_000081.4(LYST):c.8216C>T (p.Thr2739Ile)
NM_000081.4(LYST):c.8217C>A (p.Thr2739=)
NM_000081.4(LYST):c.8221C>T (p.Arg2741Ter)
NM_000081.4(LYST):c.8222G>A (p.Arg2741Gln)
NM_000081.4(LYST):c.8224A>C (p.Met2742Leu)
NM_000081.4(LYST):c.8228A>G (p.Gln2743Arg)
NM_000081.4(LYST):c.8229G>A (p.Gln2743=) rs1572118809
NM_000081.4(LYST):c.8239C>G (p.Leu2747Val)
NM_000081.4(LYST):c.8242C>G (p.Leu2748Val)
NM_000081.4(LYST):c.8244A>C (p.Leu2748=)
NM_000081.4(LYST):c.824T>G (p.Leu275Trp)
NM_000081.4(LYST):c.8251A>G (p.Ile2751Val)
NM_000081.4(LYST):c.8258C>T (p.Ser2753Leu)
NM_000081.4(LYST):c.8259G>T (p.Ser2753=)
NM_000081.4(LYST):c.826A>C (p.Asn276His)
NM_000081.4(LYST):c.8271T>A (p.Ala2757=)
NM_000081.4(LYST):c.8272G>A (p.Ala2758Thr)
NM_000081.4(LYST):c.8280G>A (p.Glu2760=)
NM_000081.4(LYST):c.8284_8285del (p.Lys2762fs)
NM_000081.4(LYST):c.8292T>A (p.Ile2764=)
NM_000081.4(LYST):c.829C>G (p.His277Asp)
NM_000081.4(LYST):c.8302G>T (p.Val2768Phe)
NM_000081.4(LYST):c.8305C>T (p.His2769Tyr)
NM_000081.4(LYST):c.8306A>G (p.His2769Arg)
NM_000081.4(LYST):c.8307T>C (p.His2769=)
NM_000081.4(LYST):c.8311C>A (p.Pro2771Thr)
NM_000081.4(LYST):c.8311C>T (p.Pro2771Ser)
NM_000081.4(LYST):c.8313A>T (p.Pro2771=)
NM_000081.4(LYST):c.8319T>C (p.His2773=)
NM_000081.4(LYST):c.8328A>G (p.Ile2776Met)
NM_000081.4(LYST):c.8329C>T (p.Leu2777=)
NM_000081.4(LYST):c.8331A>G (p.Leu2777=)
NM_000081.4(LYST):c.8336A>G (p.Asp2779Gly)
NM_000081.4(LYST):c.833A>G (p.Asn278Ser)
NM_000081.4(LYST):c.8340T>C (p.Cys2780=)
NM_000081.4(LYST):c.8349A>G (p.Pro2783=)
NM_000081.4(LYST):c.8351C>G (p.Ser2784Cys)
NM_000081.4(LYST):c.8352C>T (p.Ser2784=)
NM_000081.4(LYST):c.8355A>G (p.Leu2785=)
NM_000081.4(LYST):c.8357A>C (p.Gln2786Pro)
NM_000081.4(LYST):c.8358+11C>T
NM_000081.4(LYST):c.8358+15T>C
NM_000081.4(LYST):c.8358+17_8358+18del
NM_000081.4(LYST):c.8358+1G>C
NM_000081.4(LYST):c.8358+20T>C
NM_000081.4(LYST):c.8358+2T>C
NM_000081.4(LYST):c.8358+5G>C
NM_000081.4(LYST):c.8358+7A>G
NM_000081.4(LYST):c.8358+7A>T rs752173624
NM_000081.4(LYST):c.8359-11T>C
NM_000081.4(LYST):c.8359-13A>C
NM_000081.4(LYST):c.8359-13A>G
NM_000081.4(LYST):c.8359-14T>A
NM_000081.4(LYST):c.8359-15T>C
NM_000081.4(LYST):c.8359-18T>A
NM_000081.4(LYST):c.8359-19del
NM_000081.4(LYST):c.8359-21_8359-19del
NM_000081.4(LYST):c.8359-4A>G
NM_000081.4(LYST):c.8359-5dup
NM_000081.4(LYST):c.8359-9T>C
NM_000081.4(LYST):c.8361T>C (p.His2787=)
NM_000081.4(LYST):c.8367C>A (p.Ala2789=)
NM_000081.4(LYST):c.8373_8376del (p.Leu2791fs)
NM_000081.4(LYST):c.8385G>A (p.Leu2795=)
NM_000081.4(LYST):c.8388A>G (p.Ser2796=)
NM_000081.4(LYST):c.8390A>C (p.Glu2797Ala)
NM_000081.4(LYST):c.8390A>G (p.Glu2797Gly)
NM_000081.4(LYST):c.8392T>C (p.Leu2798=)
NM_000081.4(LYST):c.8395A>G (p.Ile2799Val)
NM_000081.4(LYST):c.83A>G (p.Glu28Gly)
NM_000081.4(LYST):c.8401A>T (p.Asn2801Tyr)
NM_000081.4(LYST):c.8412T>C (p.Gly2804=)
NM_000081.4(LYST):c.8416T>C (p.Leu2806=)
NM_000081.4(LYST):c.8418G>A (p.Leu2806=)
NM_000081.4(LYST):c.8421T>C (p.Thr2807=)
NM_000081.4(LYST):c.8424A>G (p.Glu2808=)
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.8426A>G (p.Glu2809Gly)
NM_000081.4(LYST):c.8427A>G (p.Glu2809=)
NM_000081.4(LYST):c.8435G>T (p.Gly2812Val)
NM_000081.4(LYST):c.8438C>A (p.Thr2813Lys)
NM_000081.4(LYST):c.8438C>T (p.Thr2813Ile)
NM_000081.4(LYST):c.8456A>C (p.Asn2819Thr)
NM_000081.4(LYST):c.8458G>A (p.Ala2820Thr)
NM_000081.4(LYST):c.8461T>C (p.Leu2821=)
NM_000081.4(LYST):c.8471G>A (p.Cys2824Tyr)
NM_000081.4(LYST):c.8472T>C (p.Cys2824=)
NM_000081.4(LYST):c.8478C>T (p.His2826=)
NM_000081.4(LYST):c.8480A>G (p.Lys2827Arg)
NM_000081.4(LYST):c.8488C>A (p.Pro2830Thr)
NM_000081.4(LYST):c.8496T>C (p.Ser2832=)
NM_000081.4(LYST):c.8499A>G (p.Ala2833=)
NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)
NM_000081.4(LYST):c.8514C>T (p.Asp2838=)
NM_000081.4(LYST):c.8526G>A (p.Met2842Ile)
NM_000081.4(LYST):c.852T>A (p.Ser284Arg)
NM_000081.4(LYST):c.8535+15C>T
NM_000081.4(LYST):c.8535+18T>G
NM_000081.4(LYST):c.8535+20G>A
NM_000081.4(LYST):c.8536-11A>G
NM_000081.4(LYST):c.8536-13C>G
NM_000081.4(LYST):c.8536-14_8536-11del
NM_000081.4(LYST):c.8536-16T>C
NM_000081.4(LYST):c.8536-1G>A
NM_000081.4(LYST):c.8536-5_8536-3del
NM_000081.4(LYST):c.8536-8T>A
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
NM_000081.4(LYST):c.8549A>G (p.Tyr2850Cys)
NM_000081.4(LYST):c.8556T>C (p.Thr2852=)
NM_000081.4(LYST):c.8560G>A (p.Glu2854Lys)
NM_000081.4(LYST):c.8560G>C (p.Glu2854Gln)
NM_000081.4(LYST):c.8567T>C (p.Val2856Ala)
NM_000081.4(LYST):c.8568G>A (p.Val2856=)
NM_000081.4(LYST):c.8571T>G (p.Asn2857Lys)
NM_000081.4(LYST):c.8572A>C (p.Lys2858Gln)
NM_000081.4(LYST):c.8578G>C (p.Ala2860Pro)
NM_000081.4(LYST):c.858G>A (p.Val286=)
NM_000081.4(LYST):c.858G>T (p.Val286=)
NM_000081.4(LYST):c.8593G>A (p.Val2865Ile)
NM_000081.4(LYST):c.8612+11A>G
NM_000081.4(LYST):c.8612+11A>T
NM_000081.4(LYST):c.8612+14T>G
NM_000081.4(LYST):c.8612+14del
NM_000081.4(LYST):c.8612+19C>G
NM_000081.4(LYST):c.8612+5G>T
NM_000081.4(LYST):c.8613-10_8613-8del
NM_000081.4(LYST):c.8613-12T>C
NM_000081.4(LYST):c.8613-15T>C
NM_000081.4(LYST):c.8613-19A>G
NM_000081.4(LYST):c.8613-20C>G
NM_000081.4(LYST):c.8613-5T>C
NM_000081.4(LYST):c.8613-6_8613-4del
NM_000081.4(LYST):c.8613-8T>A
NM_000081.4(LYST):c.8617T>C (p.Phe2873Leu)
NM_000081.4(LYST):c.8619T>A (p.Phe2873Leu)
NM_000081.4(LYST):c.8623C>T (p.Arg2875Cys)
NM_000081.4(LYST):c.8624G>A (p.Arg2875His)
NM_000081.4(LYST):c.8628G>A (p.Leu2876=)
NM_000081.4(LYST):c.8629G>A (p.Asp2877Asn)
NM_000081.4(LYST):c.8640A>G (p.Ser2880=)
NM_000081.4(LYST):c.8646T>C (p.Asp2882=)
NM_000081.4(LYST):c.8649A>T (p.Ile2883=)
NM_000081.4(LYST):c.8650T>A (p.Ser2884Thr)
NM_000081.4(LYST):c.8657T>C (p.Ile2886Thr)
NM_000081.4(LYST):c.865C>T (p.Leu289=)
NM_000081.4(LYST):c.8661T>C (p.Ala2887=)
NM_000081.4(LYST):c.8666A>G (p.Asp2889Gly)
NM_000081.4(LYST):c.8668_8669dup (p.Thr2891fs)
NM_000081.4(LYST):c.8680G>A (p.Val2894Met)
NM_000081.4(LYST):c.8682del (p.Ser2895fs)
NM_000081.4(LYST):c.8688C>T (p.Leu2896=)
NM_000081.4(LYST):c.8691C>T (p.Ser2897=)
NM_000081.4(LYST):c.8691_8692del (p.Gln2898fs)
NM_000081.4(LYST):c.8717T>C (p.Ile2906Thr)
NM_000081.4(LYST):c.8718C>T (p.Ile2906=)
NM_000081.4(LYST):c.8727T>C (p.Ile2909=)
NM_000081.4(LYST):c.8739T>C (p.Tyr2913=)
NM_000081.4(LYST):c.8742A>G (p.Lys2914=)
NM_000081.4(LYST):c.8745A>G (p.Val2915=)
NM_000081.4(LYST):c.8753G>A (p.Ser2918Asn)
NM_000081.4(LYST):c.8758A>T (p.Ser2920Cys)
NM_000081.4(LYST):c.8760C>T (p.Ser2920=)
NM_000081.4(LYST):c.8760del (p.Ser2920fs)
NM_000081.4(LYST):c.876C>T (p.Phe292=)
NM_000081.4(LYST):c.8784G>A (p.Gln2928=)
NM_000081.4(LYST):c.8801+10G>A
NM_000081.4(LYST):c.8801+10G>C
NM_000081.4(LYST):c.8801+11G>A
NM_000081.4(LYST):c.8801+14G>T
NM_000081.4(LYST):c.8801+15G>T
NM_000081.4(LYST):c.8801+8G>A
NM_000081.4(LYST):c.8801+9C>T
NM_000081.4(LYST):c.8801G>C (p.Arg2934Thr)
NM_000081.4(LYST):c.8802-14C>A
NM_000081.4(LYST):c.8802-14C>G
NM_000081.4(LYST):c.8802-15T>A
NM_000081.4(LYST):c.8802-2A>G
NM_000081.4(LYST):c.8802-5T>C
NM_000081.4(LYST):c.8802-6T>C
NM_000081.4(LYST):c.8802-9T>C
NM_000081.4(LYST):c.8802A>G (p.Arg2934=)
NM_000081.4(LYST):c.8803G>A (p.Ala2935Thr)
NM_000081.4(LYST):c.8804C>A (p.Ala2935Glu)
NM_000081.4(LYST):c.8808A>G (p.Val2936=)
NM_000081.4(LYST):c.8814T>C (p.Tyr2938=)
NM_000081.4(LYST):c.8818C>A (p.Pro2940Thr)
NM_000081.4(LYST):c.8818C>T (p.Pro2940Ser) rs375839384
NM_000081.4(LYST):c.8823C>T (p.Ile2941=)
NM_000081.4(LYST):c.8827T>C (p.Tyr2943His)
NM_000081.4(LYST):c.8830C>T (p.Pro2944Ser)
NM_000081.4(LYST):c.8833A>G (p.Thr2945Ala)
NM_000081.4(LYST):c.885C>T (p.Gly295=)
NM_000081.4(LYST):c.8864C>T (p.Pro2955Leu)
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
NM_000081.4(LYST):c.8872G>C (p.Glu2958Gln)
NM_000081.4(LYST):c.8877G>C (p.Arg2959Ser)
NM_000081.4(LYST):c.8877_8878delinsAG (p.Arg2960Gly)
NM_000081.4(LYST):c.8882G>A (p.Arg2961His)
NM_000081.4(LYST):c.8886A>G (p.Leu2962=)
NM_000081.4(LYST):c.8887C>A (p.Gln2963Lys)
NM_000081.4(LYST):c.889G>A (p.Gly297Arg)
NM_000081.4(LYST):c.8905A>G (p.Ile2969Val)
NM_000081.4(LYST):c.890G>A (p.Gly297Glu)
NM_000081.4(LYST):c.8912A>G (p.Asn2971Ser)
NM_000081.4(LYST):c.8916G>A (p.Lys2972=)
NM_000081.4(LYST):c.8931T>C (p.Asp2977=)
NM_000081.4(LYST):c.8933G>C (p.Arg2978Thr)
NM_000081.4(LYST):c.8940A>C (p.Lys2980Asn)
NM_000081.4(LYST):c.8943A>G (p.Ser2981=)
NM_000081.4(LYST):c.8947+5T>G
NM_000081.4(LYST):c.8947+6A>C
NM_000081.4(LYST):c.8948-12del
NM_000081.4(LYST):c.8948-14T>C
NM_000081.4(LYST):c.8948-17dup
NM_000081.4(LYST):c.8948-19T>A
NM_000081.4(LYST):c.8949TGT[1] (p.Val2985del)
NM_000081.4(LYST):c.8951T>C (p.Val2984Ala)
NM_000081.4(LYST):c.8955C>T (p.Val2985=)
NM_000081.4(LYST):c.8958A>G (p.Lys2986=)
NM_000081.4(LYST):c.8964A>G (p.Pro2988=)
NM_000081.4(LYST):c.8967C>T (p.Leu2989=)
NM_000081.4(LYST):c.8973C>G (p.Tyr2991Ter)
NM_000081.4(LYST):c.8976G>A (p.Leu2992=)
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
NM_000081.4(LYST):c.8992C>T (p.His2998Tyr)
NM_000081.4(LYST):c.8997T>G (p.Ser2999=)
NM_000081.4(LYST):c.8C>A (p.Thr3Asn)
NM_000081.4(LYST):c.900C>T (p.Cys300=)
NM_000081.4(LYST):c.9011C>G (p.Thr3004Ser)
NM_000081.4(LYST):c.9012T>G (p.Thr3004=)
NM_000081.4(LYST):c.9015C>T (p.Val3005=)
NM_000081.4(LYST):c.901A>G (p.Ser301Gly)
NM_000081.4(LYST):c.9023A>G (p.Lys3008Arg)
NM_000081.4(LYST):c.9024A>G (p.Lys3008=)
NM_000081.4(LYST):c.9040A>G (p.Ile3014Val)
NM_000081.4(LYST):c.9042A>G (p.Ile3014Met)
NM_000081.4(LYST):c.9043A>G (p.Arg3015Gly)
NM_000081.4(LYST):c.9044+15A>G
NM_000081.4(LYST):c.9044+15A>T
NM_000081.4(LYST):c.9044+15del
NM_000081.4(LYST):c.9044+16T>C
NM_000081.4(LYST):c.9044+1G>A
NM_000081.4(LYST):c.9044+6T>C
NM_000081.4(LYST):c.9045-11T>C
NM_000081.4(LYST):c.9045-15A>T
NM_000081.4(LYST):c.9045-20T>C
NM_000081.4(LYST):c.9045-7T>C
NM_000081.4(LYST):c.9045-9T>C
NM_000081.4(LYST):c.9048G>T (p.Val3016=)
NM_000081.4(LYST):c.904_905delinsAA (p.Leu302Lys)
NM_000081.4(LYST):c.9053G>A (p.Arg3018Gln)
NM_000081.4(LYST):c.9060C>T (p.Cys3020=)
NM_000081.4(LYST):c.9068T>G (p.Val3023Gly)
NM_000081.4(LYST):c.9081A>G (p.Arg3027=)
NM_000081.4(LYST):c.9084G>T (p.Glu3028Asp)
NM_000081.4(LYST):c.9097T>C (p.Leu3033=)
NM_000081.4(LYST):c.909C>T (p.Ser303=)
NM_000081.4(LYST):c.9106+10dup
NM_000081.4(LYST):c.9106+1G>T
NM_000081.4(LYST):c.9106+9A>G
NM_000081.4(LYST):c.9107-10C>T
NM_000081.4(LYST):c.9107-14A>T
NM_000081.4(LYST):c.9107-19A>T
NM_000081.4(LYST):c.9107-4G>T
NM_000081.4(LYST):c.9109A>G (p.Lys3037Glu)
NM_000081.4(LYST):c.910G>A (p.Asp304Asn)
NM_000081.4(LYST):c.9118A>G (p.Met3040Val)
NM_000081.4(LYST):c.9135T>C (p.Asp3045=)
NM_000081.4(LYST):c.9138T>G (p.Asn3046Lys)
NM_000081.4(LYST):c.9141T>C (p.Ala3047=)
NM_000081.4(LYST):c.9143del (p.Ser3048fs)
NM_000081.4(LYST):c.9159T>C (p.Ser3053=)
NM_000081.4(LYST):c.9162+11G>A
NM_000081.4(LYST):c.9162+11G>T
NM_000081.4(LYST):c.9162+15A>G
NM_000081.4(LYST):c.9162+20T>A
NM_000081.4(LYST):c.9162+3_9162+14del
NM_000081.4(LYST):c.9162+9del
NM_000081.4(LYST):c.9163-10T>C
NM_000081.4(LYST):c.9163-15A>C
NM_000081.4(LYST):c.9163-15A>G
NM_000081.4(LYST):c.9163-17C>G
NM_000081.4(LYST):c.9163-18C>T
NM_000081.4(LYST):c.9163-3_9163-1dup
NM_000081.4(LYST):c.9163-6del
NM_000081.4(LYST):c.9163A>T (p.Ser3055Cys)
NM_000081.4(LYST):c.9169C>A (p.Gln3057Lys)
NM_000081.4(LYST):c.916T>G (p.Leu306Val)
NM_000081.4(LYST):c.9171G>A (p.Gln3057=)
NM_000081.4(LYST):c.9180G>A (p.Leu3060=)
NM_000081.4(LYST):c.9185C>A (p.Pro3062Gln)
NM_000081.4(LYST):c.9194T>G (p.Phe3065Cys)
NM_000081.4(LYST):c.9204A>G (p.Thr3068=)
NM_000081.4(LYST):c.9208GAA[1] (p.Glu3071del)
NM_000081.4(LYST):c.9213A>G (p.Glu3071=)
NM_000081.4(LYST):c.9216T>C (p.Ile3072=)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9228C>T (p.His3076=)
NM_000081.4(LYST):c.9232C>T (p.Arg3078Cys)
NM_000081.4(LYST):c.9239G>A (p.Trp3080Ter)
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.9252T>G (p.Asp3084Glu)
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_000081.4(LYST):c.9261A>G (p.Val3087=)
NM_000081.4(LYST):c.9267C>A (p.Ile3089=)
NM_000081.4(LYST):c.926G>A (p.Arg309Gln)
NM_000081.4(LYST):c.9273A>G (p.Leu3091=)
NM_000081.4(LYST):c.927A>G (p.Arg309=)
NM_000081.4(LYST):c.9288A>G (p.Thr3096=)
NM_000081.4(LYST):c.9292C>T (p.Leu3098=)
NM_000081.4(LYST):c.9300A>G (p.Ala3100=)
NM_000081.4(LYST):c.9315+10C>T
NM_000081.4(LYST):c.9315+11C>A
NM_000081.4(LYST):c.9315+12C>T
NM_000081.4(LYST):c.9315+20T>C
NM_000081.4(LYST):c.9315+3A>G
NM_000081.4(LYST):c.9315+8C>G
NM_000081.4(LYST):c.9315+8C>T
NM_000081.4(LYST):c.9315+9A>T
NM_000081.4(LYST):c.9316-18C>A
NM_000081.4(LYST):c.9316-19del
NM_000081.4(LYST):c.9316-5T>C
NM_000081.4(LYST):c.9316-9C>T
NM_000081.4(LYST):c.9318T>G (p.Val3106=)
NM_000081.4(LYST):c.9319C>A (p.Arg3107Ser)
NM_000081.4(LYST):c.9319C>T (p.Arg3107Cys)
NM_000081.4(LYST):c.9320G>A (p.Arg3107His)
NM_000081.4(LYST):c.9320G>T (p.Arg3107Leu)
NM_000081.4(LYST):c.9328G>A (p.Val3110Ile)
NM_000081.4(LYST):c.9330A>G (p.Val3110=)
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
NM_000081.4(LYST):c.9338A>G (p.Asn3113Ser)
NM_000081.4(LYST):c.9339T>C (p.Asn3113=)
NM_000081.4(LYST):c.9347C>A (p.Thr3116Lys)
NM_000081.4(LYST):c.9347C>T (p.Thr3116Ile)
NM_000081.4(LYST):c.934del (p.Ser312fs)
NM_000081.4(LYST):c.9350A>G (p.Asn3117Ser)
NM_000081.4(LYST):c.9354C>A (p.Asn3118Lys)
NM_000081.4(LYST):c.9357C>G (p.Leu3119=)
NM_000081.4(LYST):c.9361A>G (p.Asn3121Asp)
NM_000081.4(LYST):c.9369G>A (p.Leu3123=)
NM_000081.4(LYST):c.9377G>A (p.Gly3126Asp)
NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)
NM_000081.4(LYST):c.937G>A (p.Ala313Thr)
NM_000081.4(LYST):c.9381C>T (p.Asn3127=)
NM_000081.4(LYST):c.9387C>G (p.Thr3129=)
NM_000081.4(LYST):c.9387C>T (p.Thr3129=)
NM_000081.4(LYST):c.9400T>A (p.Leu3134Ile)
NM_000081.4(LYST):c.9410C>A (p.Thr3137Asn)
NM_000081.4(LYST):c.9413G>A (p.Gly3138Glu)
NM_000081.4(LYST):c.9414G>A (p.Gly3138=)
NM_000081.4(LYST):c.9414G>T (p.Gly3138=)
NM_000081.4(LYST):c.9415C>A (p.Gln3139Lys)
NM_000081.4(LYST):c.9434_9435dup (p.Leu3146fs)
NM_000081.4(LYST):c.9449del (p.Asn3150fs)
NM_000081.4(LYST):c.9450C>T (p.Asn3150=)
NM_000081.4(LYST):c.9454C>T (p.His3152Tyr)
NM_000081.4(LYST):c.9462C>G (p.Gly3154=)
NM_000081.4(LYST):c.9463C>T (p.Arg3155Ter)
NM_000081.4(LYST):c.9465A>G (p.Arg3155=)
NM_000081.4(LYST):c.9468C>T (p.Ser3156=) rs1663290633
NM_000081.4(LYST):c.9479T>C (p.Leu3160Pro)
NM_000081.4(LYST):c.9488A>G (p.Tyr3163Cys)
NM_000081.4(LYST):c.948C>A (p.Thr316=)
NM_000081.4(LYST):c.948C>G (p.Thr316=)
NM_000081.4(LYST):c.948C>T (p.Thr316=)
NM_000081.4(LYST):c.9492T>G (p.Pro3164=)
NM_000081.4(LYST):c.9495G>C (p.Val3165=)
NM_000081.4(LYST):c.9498C>G (p.Phe3166Leu)
NM_000081.4(LYST):c.9501A>G (p.Pro3167=)
NM_000081.4(LYST):c.9510T>A (p.Leu3170=)
NM_000081.4(LYST):c.9517T>C (p.Tyr3173His)
NM_000081.4(LYST):c.9519C>T (p.Tyr3173=)
NM_000081.4(LYST):c.9529A>C (p.Thr3177Pro)
NM_000081.4(LYST):c.9547C>A (p.Leu3183Met)
NM_000081.4(LYST):c.9549G>A (p.Leu3183=)
NM_000081.4(LYST):c.9556T>C (p.Tyr3186His)
NM_000081.4(LYST):c.955C>G (p.Pro319Ala)
NM_000081.4(LYST):c.9560+12G>C
NM_000081.4(LYST):c.9560+14A>G
NM_000081.4(LYST):c.9560+19C>T
NM_000081.4(LYST):c.9560+3A>G
NM_000081.4(LYST):c.9561-12C>G
NM_000081.4(LYST):c.9561-15G>T
NM_000081.4(LYST):c.9561-17T>G
NM_000081.4(LYST):c.9561-8T>G
NM_000081.4(LYST):c.9561-9T>C
NM_000081.4(LYST):c.956C>T (p.Pro319Leu)
NM_000081.4(LYST):c.957G>A (p.Pro319=)
NM_000081.4(LYST):c.957G>C (p.Pro319=)
NM_000081.4(LYST):c.957G>T (p.Pro319=)
NM_000081.4(LYST):c.9590A>G (p.Tyr3197Cys)
NM_000081.4(LYST):c.9600AGA[1] (p.Glu3201del)
NM_000081.4(LYST):c.9600del (p.Glu3201fs)
NM_000081.4(LYST):c.9612T>G (p.Tyr3204Ter)
NM_000081.4(LYST):c.9614T>G (p.Val3205Gly)
NM_000081.4(LYST):c.9617A>G (p.Asp3206Gly)
NM_000081.4(LYST):c.961G>T (p.Ala321Ser)
NM_000081.4(LYST):c.9621A>G (p.Thr3207=)
NM_000081.4(LYST):c.9624C>T (p.Tyr3208=)
NM_000081.4(LYST):c.9627+10G>A
NM_000081.4(LYST):c.9627+11T>C
NM_000081.4(LYST):c.9627+13T>G
NM_000081.4(LYST):c.9627+17dup
NM_000081.4(LYST):c.9627+19C>T
NM_000081.4(LYST):c.9627+1G>A
NM_000081.4(LYST):c.9627+20G>A
NM_000081.4(LYST):c.9627+7T>C
NM_000081.4(LYST):c.9628-11G>A
NM_000081.4(LYST):c.9628-11G>T
NM_000081.4(LYST):c.9628-12C>G
NM_000081.4(LYST):c.9628-13C>T
NM_000081.4(LYST):c.9628-18A>G
NM_000081.4(LYST):c.9628-19G>T
NM_000081.4(LYST):c.9628-28_9628-20del
NM_000081.4(LYST):c.9628-3del
NM_000081.4(LYST):c.9628-7C>A
NM_000081.4(LYST):c.9628-8T>C
NM_000081.4(LYST):c.9635A>C (p.Glu3212Ala)
NM_000081.4(LYST):c.9636G>A (p.Glu3212=)
NM_000081.4(LYST):c.9639A>G (p.Glu3213=)
NM_000081.4(LYST):c.9646C>T (p.Arg3216Cys)
NM_000081.4(LYST):c.9647G>A (p.Arg3216His)
NM_000081.4(LYST):c.9650A>G (p.Lys3217Arg)
NM_000081.4(LYST):c.9653_9654delinsTT (p.Gly3218Val)
NM_000081.4(LYST):c.9658A>G (p.Arg3220Gly)
NM_000081.4(LYST):c.9667G>A (p.Asp3223Asn)
NM_000081.4(LYST):c.9669C>G (p.Asp3223Glu)
NM_000081.4(LYST):c.9670C>G (p.Pro3224Ala)
NM_000081.4(LYST):c.9681C>A (p.Pro3227=)
NM_000081.4(LYST):c.9681C>G (p.Pro3227=)
NM_000081.4(LYST):c.9681C>T (p.Pro3227=)
NM_000081.4(LYST):c.9682G>A (p.Val3228Met)
NM_000081.4(LYST):c.9690C>T (p.Pro3230=)
NM_000081.4(LYST):c.9694C>T (p.His3232Tyr)
NM_000081.4(LYST):c.9714C>T (p.Ser3238=)
NM_000081.4(LYST):c.971A>G (p.Gln324Arg)
NM_000081.4(LYST):c.9721G>A (p.Gly3241Ser)
NM_000081.4(LYST):c.9723C>T (p.Gly3241=)
NM_000081.4(LYST):c.9731_9733del (p.Leu3244del)
NM_000081.4(LYST):c.9738C>T (p.Phe3246=)
NM_000081.4(LYST):c.973dup (p.Arg325fs)
NM_000081.4(LYST):c.9741G>C (p.Leu3247=)
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
NM_000081.4(LYST):c.9747G>A (p.Arg3249=)
NM_000081.4(LYST):c.9749T>C (p.Met3250Thr)
NM_000081.4(LYST):c.976A>G (p.Met326Val)
NM_000081.4(LYST):c.9776C>T (p.Ala3259Val)
NM_000081.4(LYST):c.9777C>A (p.Ala3259=)
NM_000081.4(LYST):c.9777C>T (p.Ala3259=)
NM_000081.4(LYST):c.9784+10T>G
NM_000081.4(LYST):c.9784+11A>G
NM_000081.4(LYST):c.9784+15A>G
NM_000081.4(LYST):c.9784+16C>G
NM_000081.4(LYST):c.9784+17T>G
NM_000081.4(LYST):c.9784+1G>T
NM_000081.4(LYST):c.9784+5G>A
NM_000081.4(LYST):c.9785-11dup
NM_000081.4(LYST):c.9785-19T>A
NM_000081.4(LYST):c.9785-20T>G
NM_000081.4(LYST):c.9785-21_9785-17del rs547173744
NM_000081.4(LYST):c.9785-4A>G rs866556712
NM_000081.4(LYST):c.9785-5T>A
NM_000081.4(LYST):c.9785-5T>C
NM_000081.4(LYST):c.9801T>C (p.Ile3267=)
NM_000081.4(LYST):c.9802C>G (p.Pro3268Ala)
NM_000081.4(LYST):c.9806A>C (p.Asp3269Ala)
NM_000081.4(LYST):c.9811A>T (p.Thr3271Ser)
NM_000081.4(LYST):c.9812C>T (p.Thr3271Ile)
NM_000081.4(LYST):c.981C>A (p.Leu327=)
NM_000081.4(LYST):c.9821C>G (p.Ser3274Cys)
NM_000081.4(LYST):c.9822T>C (p.Ser3274=)
NM_000081.4(LYST):c.9823A>G (p.Thr3275Ala)
NM_000081.4(LYST):c.9825A>C (p.Thr3275=)
NM_000081.4(LYST):c.9825A>G (p.Thr3275=)
NM_000081.4(LYST):c.9826A>G (p.Asn3276Asp)
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_000081.4(LYST):c.9835T>G (p.Trp3279Gly)
NM_000081.4(LYST):c.9838C>A (p.Arg3280=)
NM_000081.4(LYST):c.9838C>T (p.Arg3280Ter)
NM_000081.4(LYST):c.9839G>A (p.Arg3280Gln)
NM_000081.4(LYST):c.9843C>T (p.Leu3281=)
NM_000081.4(LYST):c.9846A>C (p.Ser3282=)
NM_000081.4(LYST):c.9853G>A (p.Glu3285Lys)
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_000081.4(LYST):c.9868G>A (p.Val3290Met)
NM_000081.4(LYST):c.986G>A (p.Arg329Gln)
NM_000081.4(LYST):c.9873A>G (p.Lys3291=)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
NM_000081.4(LYST):c.987A>G (p.Arg329=)
NM_000081.4(LYST):c.9891T>C (p.Phe3297=)
NM_000081.4(LYST):c.9893del (p.Phe3298fs) rs80338668
NM_000081.4(LYST):c.9894C>T (p.Phe3298=)
NM_000081.4(LYST):c.9896A>G (p.Tyr3299Cys)
NM_000081.4(LYST):c.989C>G (p.Thr330Arg)
NM_000081.4(LYST):c.98A>G (p.Glu33Gly)
NM_000081.4(LYST):c.9900T>C (p.Leu3300=)
NM_000081.4(LYST):c.9906G>A (p.Glu3302=)
NM_000081.4(LYST):c.990A>G (p.Thr330=)
NM_000081.4(LYST):c.9914T>C (p.Val3305Ala)
NM_000081.4(LYST):c.9919C>T (p.Arg3307Cys)
NM_000081.4(LYST):c.9920G>A (p.Arg3307His)
NM_000081.4(LYST):c.9920G>T (p.Arg3307Leu)
NM_000081.4(LYST):c.9925+10T>G
NM_000081.4(LYST):c.9925+14T>G
NM_000081.4(LYST):c.9925+15T>C
NM_000081.4(LYST):c.9925+1G>T
NM_000081.4(LYST):c.9925+2T>C
NM_000081.4(LYST):c.9925+3A>G
NM_000081.4(LYST):c.9925+6G>A
NM_000081.4(LYST):c.9925+9A>G
NM_000081.4(LYST):c.9926-10T>G
NM_000081.4(LYST):c.9926-11T>A
NM_000081.4(LYST):c.9926-16T>C
NM_000081.4(LYST):c.9926-17T>C
NM_000081.4(LYST):c.9926-18_9926-17insTAAAT
NM_000081.4(LYST):c.9926-8T>G
NM_000081.4(LYST):c.9930T>C (p.Phe3310=)
NM_000081.4(LYST):c.993G>A (p.Val331=)
NM_000081.4(LYST):c.9942G>C (p.Val3314=)
NM_000081.4(LYST):c.9943C>T (p.Arg3315Cys)
NM_000081.4(LYST):c.994T>C (p.Leu332=)
NM_000081.4(LYST):c.9960G>C (p.Arg3320=)
NM_000081.4(LYST):c.9961dup (p.Val3321fs)
NM_000081.4(LYST):c.9969C>T (p.His3323=)
NM_000081.4(LYST):c.9970G>A (p.Val3324Ile)
NM_000081.4(LYST):c.9972C>T (p.Val3324=)
NM_000081.4(LYST):c.9974A>G (p.Asn3325Ser)
NM_000081.4(LYST):c.9976C>A (p.Leu3326Ile)
NM_000081.4(LYST):c.997C>A (p.His333Asn)
NM_000081.4(LYST):c.9984T>G (p.Pro3328=)
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
NM_000081.4(LYST):c.9990G>C (p.Ala3330=)
NM_000081.4(LYST):c.9991C>T (p.Arg3331Cys)
NM_000271.4(NPC1):c.1947+16_1947+17insCGG rs55809701
NM_000271.5(NPC1):c.1009C>T (p.Arg337Trp)
NM_000271.5(NPC1):c.1014G>C (p.Leu338=)
NM_000271.5(NPC1):c.1019C>G (p.Thr340Arg)
NM_000271.5(NPC1):c.1020_1021del (p.Arg341fs) rs1555637255
NM_000271.5(NPC1):c.1021C>T (p.Arg341Cys)
NM_000271.5(NPC1):c.1022G>C (p.Arg341Pro) rs370181667
NM_000271.5(NPC1):c.1023C>A (p.Arg341=) rs2145458093
NM_000271.5(NPC1):c.1024T>C (p.Trp342Arg) rs2145458077
NM_000271.5(NPC1):c.1026G>A (p.Trp342Ter)
NM_000271.5(NPC1):c.1028G>A (p.Gly343Glu) rs1444308532
NM_000271.5(NPC1):c.1029G>A (p.Gly343=) rs2145458023
NM_000271.5(NPC1):c.1029del (p.Ser344fs)
NM_000271.5(NPC1):c.102A>C (p.Ala34=)
NM_000271.5(NPC1):c.102A>G (p.Ala34=)
NM_000271.5(NPC1):c.1032T>A (p.Ser344=) rs2145457977
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs) rs1057516950
NM_000271.5(NPC1):c.1034T>C (p.Phe345Ser) rs1303376855
NM_000271.5(NPC1):c.1034del (p.Phe345fs) rs1057516950
NM_000271.5(NPC1):c.1041C>T (p.Val347=) rs2058954302
NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter) rs1474434210
NM_000271.5(NPC1):c.1043G>A (p.Arg348Gln)
NM_000271.5(NPC1):c.104A>T (p.Tyr35Phe)
NM_000271.5(NPC1):c.1053C>G (p.Gly351=)
NM_000271.5(NPC1):c.1059C>T (p.Val353=)
NM_000271.5(NPC1):c.1069T>G (p.Ser357Ala)
NM_000271.5(NPC1):c.106G>A (p.Gly36Arg) rs2059232891
NM_000271.5(NPC1):c.1074G>C (p.Leu358=) rs2145457569
NM_000271.5(NPC1):c.1089G>A (p.Ala363=) rs901122746
NM_000271.5(NPC1):c.1089G>T (p.Ala363=) rs901122746
NM_000271.5(NPC1):c.108G>A (p.Gly36=) rs2145552145
NM_000271.5(NPC1):c.1092T>C (p.Cys364=) rs2058953311
NM_000271.5(NPC1):c.1094C>T (p.Ser365Leu)
NM_000271.5(NPC1):c.1098A>C (p.Ser366=) rs1006770318
NM_000271.5(NPC1):c.1101C>G (p.Gly367=)
NM_000271.5(NPC1):c.1102C>T (p.Leu368=) rs2145457233
NM_000271.5(NPC1):c.1102dup (p.Leu368fs)
NM_000271.5(NPC1):c.1103_1151del (p.Leu368fs)
NM_000271.5(NPC1):c.1104G>C (p.Leu368=)
NM_000271.5(NPC1):c.1107G>A (p.Val369=) rs2058952906
NM_000271.5(NPC1):c.1110T>C (p.Phe370=)
NM_000271.5(NPC1):c.1116G>A (p.Arg372=) rs947484362
NM_000271.5(NPC1):c.1116G>C (p.Arg372=)
NM_000271.5(NPC1):c.111C>T (p.Asp37=)
NM_000271.5(NPC1):c.1122A>G (p.Thr374=)
NM_000271.5(NPC1):c.1126A>G (p.Asn376Asp)
NM_000271.5(NPC1):c.1129C>T (p.Pro377Ser)
NM_000271.5(NPC1):c.1131A>C (p.Pro377=)
NM_000271.5(NPC1):c.1131A>G (p.Pro377=) rs1164106395
NM_000271.5(NPC1):c.1131A>T (p.Pro377=) rs1164106395
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs) rs1555637164
NM_000271.5(NPC1):c.1140_1141del (p.Trp381fs) rs1567965488
NM_000271.5(NPC1):c.1149C>T (p.Ala383=)
NM_000271.5(NPC1):c.1152C>G (p.Pro384=) rs2145456691
NM_000271.5(NPC1):c.1152dup (p.Ser385fs) rs2145456711
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.5(NPC1):c.1166G>T (p.Arg389Leu) rs373751051
NM_000271.5(NPC1):c.1168C>T (p.Leu390=)
NM_000271.5(NPC1):c.1172A>C (p.Glu391Ala)
NM_000271.5(NPC1):c.1173A>G (p.Glu391=)
NM_000271.5(NPC1):c.1176dup (p.Glu393fs)
NM_000271.5(NPC1):c.1179G>A (p.Glu393=) rs748026338
NM_000271.5(NPC1):c.1182C>G (p.Tyr394Ter)
NM_000271.5(NPC1):c.1190A>G (p.Gln397Arg)
NM_000271.5(NPC1):c.1191G>A (p.Gln397=) rs374959321
NM_000271.5(NPC1):c.1201C>A (p.Pro401Thr)
NM_000271.5(NPC1):c.1203T>A (p.Pro401=) rs2145456286
NM_000271.5(NPC1):c.1205_1208del (p.Phe402fs)
NM_000271.5(NPC1):c.1208T>C (p.Phe403Ser)
NM_000271.5(NPC1):c.120C>T (p.Tyr40=)
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro) rs1567965313
NM_000271.5(NPC1):c.1224C>G (p.Leu408=) rs759901793
NM_000271.5(NPC1):c.1224C>T (p.Leu408=) rs759901793
NM_000271.5(NPC1):c.1231C>T (p.Arg411Trp)
NM_000271.5(NPC1):c.1247A>G (p.Asp416Gly)
NM_000271.5(NPC1):c.1248C>G (p.Asp416Glu) rs2145455839
NM_000271.5(NPC1):c.1250_1253del (p.Lys417fs) rs2058949697
NM_000271.5(NPC1):c.1253_1260dup (p.Gln421fs)
NM_000271.5(NPC1):c.1254C>T (p.His418=)
NM_000271.5(NPC1):c.1261C>G (p.Gln421Glu) rs2058949363
NM_000271.5(NPC1):c.1261C>T (p.Gln421Ter) rs2058949363
NM_000271.5(NPC1):c.1266A>G (p.Pro422=)
NM_000271.5(NPC1):c.1268A>G (p.Tyr423Cys)
NM_000271.5(NPC1):c.1269C>A (p.Tyr423Ter)
NM_000271.5(NPC1):c.1280C>G (p.Ala427Gly)
NM_000271.5(NPC1):c.1281T>G (p.Ala427=)
NM_000271.5(NPC1):c.1284T>C (p.Asp428=) rs942924284
NM_000271.5(NPC1):c.1287A>C (p.Val429=) rs2058948954
NM_000271.5(NPC1):c.1290C>T (p.Pro430=)
NM_000271.5(NPC1):c.1290del (p.Phe431fs)
NM_000271.5(NPC1):c.1293T>C (p.Phe431=) rs1291913090
NM_000271.5(NPC1):c.1296A>T (p.Gly432=) rs2145455403
NM_000271.5(NPC1):c.12C>T (p.Arg4=)
NM_000271.5(NPC1):c.1304T>C (p.Leu435Pro)
NM_000271.5(NPC1):c.1306G>A (p.Asp436Asn) rs1294804263
NM_000271.5(NPC1):c.1309A>G (p.Ile437Val) rs2145455256
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter) rs750292546
NM_000271.5(NPC1):c.1318C>T (p.Leu440=) rs1390796169
NM_000271.5(NPC1):c.1321C>T (p.His441Tyr) rs764171713
NM_000271.5(NPC1):c.1323C>T (p.His441=) rs2145455070
NM_000271.5(NPC1):c.1326+14T>G
NM_000271.5(NPC1):c.1326+15G>A
NM_000271.5(NPC1):c.1327-10C>A
NM_000271.5(NPC1):c.1327-12dup
NM_000271.5(NPC1):c.1327-15A>G
NM_000271.5(NPC1):c.1327-16dup
NM_000271.5(NPC1):c.1327-2dup rs1555636712
NM_000271.5(NPC1):c.1327-4T>C
NM_000271.5(NPC1):c.1327-7C>G rs2145448562
NM_000271.5(NPC1):c.132T>C (p.Tyr44=) rs778757273
NM_000271.5(NPC1):c.1333G>T (p.Asp445Tyr) rs2145448490
NM_000271.5(NPC1):c.1335C>T (p.Asp445=)
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter) rs1057517077
NM_000271.5(NPC1):c.1346C>T (p.Ala449Val)
NM_000271.5(NPC1):c.1350C>A (p.Ile450=) rs368945671
NM_000271.5(NPC1):c.1359T>C (p.Ile453=)
NM_000271.5(NPC1):c.1361C>T (p.Thr454Ile)
NM_000271.5(NPC1):c.1361del (p.Thr454fs)
NM_000271.5(NPC1):c.1365C>T (p.Ala455=)
NM_000271.5(NPC1):c.1367C>T (p.Ser456Phe) rs374159264
NM_000271.5(NPC1):c.1368_1369del (p.Ser456_Tyr457insTer) rs2058928573
NM_000271.5(NPC1):c.1369dup (p.Tyr457fs)
NM_000271.5(NPC1):c.1377T>C (p.Asn459=)
NM_000271.5(NPC1):c.137G>A (p.Gly46Asp) rs1425737401
NM_000271.5(NPC1):c.1392T>G (p.Leu464=) rs2145448105
NM_000271.5(NPC1):c.1395A>G (p.Gln465=)
NM_000271.5(NPC1):c.1398C>T (p.Asp466=)
NM_000271.5(NPC1):c.1401C>T (p.Ile467=) rs2058928240
NM_000271.5(NPC1):c.1405T>C (p.Leu469=) rs530310492
NM_000271.5(NPC1):c.1405_1409del (p.Leu469fs)
NM_000271.5(NPC1):c.1407G>A (p.Leu469=)
NM_000271.5(NPC1):c.1410C>A (p.Ala470=)
NM_000271.5(NPC1):c.1410C>T (p.Ala470=)
NM_000271.5(NPC1):c.1411C>T (p.Pro471Ser) rs2058927956
NM_000271.5(NPC1):c.1413T>C (p.Pro471=)
NM_000271.5(NPC1):c.1415T>C (p.Leu472Pro) rs2145447843
NM_000271.5(NPC1):c.1417dup (p.Ser473fs) rs2145447827
NM_000271.5(NPC1):c.1419A>G (p.Ser473=)
NM_000271.5(NPC1):c.1420C>G (p.Pro474Ala)
NM_000271.5(NPC1):c.1424A>G (p.Tyr475Cys)
NM_000271.5(NPC1):c.1435_1438dup (p.Thr480fs) rs2145447627
NM_000271.5(NPC1):c.1436G>C (p.Cys479Ser)
NM_000271.5(NPC1):c.1437C>T (p.Cys479=)
NM_000271.5(NPC1):c.1443T>C (p.Ile481=)
NM_000271.5(NPC1):c.1444T>C (p.Leu482=) rs1009526664
NM_000271.5(NPC1):c.144A>G (p.Pro48=) rs1420450833
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter) rs1555642296
NM_000271.5(NPC1):c.1470C>T (p.Asn490=) rs2145447446
NM_000271.5(NPC1):c.1473C>T (p.Ser491=)
NM_000271.5(NPC1):c.1475A>G (p.His492Arg)
NM_000271.5(NPC1):c.1482G>C (p.Val494=)
NM_000271.5(NPC1):c.1482G>T (p.Val494=)
NM_000271.5(NPC1):c.1483C>G (p.Leu495Val) rs1598973224
NM_000271.5(NPC1):c.1485G>A (p.Leu495=)
NM_000271.5(NPC1):c.1488C>T (p.Asp496=)
NM_000271.5(NPC1):c.1490A>G (p.His497Arg) rs2145447292
NM_000271.5(NPC1):c.1491C>T (p.His497=)
NM_000271.5(NPC1):c.1495A>G (p.Lys499Glu) rs2145447268
NM_000271.5(NPC1):c.1497dup (p.Gly500fs) rs2058926540
NM_000271.5(NPC1):c.149C>T (p.Pro50Leu)
NM_000271.5(NPC1):c.1500G>C (p.Gly500=)
NM_000271.5(NPC1):c.1501G>T (p.Asp501Tyr)
NM_000271.5(NPC1):c.1506CTT[1] (p.Phe504del) rs1555636605
NM_000271.5(NPC1):c.1518T>C (p.Tyr506=) rs2145447075
NM_000271.5(NPC1):c.1521C>T (p.Ala507=) rs780100866
NM_000271.5(NPC1):c.1524T>C (p.Asp508=)
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser) rs1190383931
NM_000271.5(NPC1):c.1531_1532del (p.Thr511fs) rs2145446953
NM_000271.5(NPC1):c.1533G>C (p.Thr511=) rs778890495
NM_000271.5(NPC1):c.1533G>T (p.Thr511=) rs778890495
NM_000271.5(NPC1):c.1534C>T (p.His512Tyr)
NM_000271.5(NPC1):c.1535A>G (p.His512Arg) rs1567963883
NM_000271.5(NPC1):c.1548C>G (p.Cys516Trp) rs763680535
NM_000271.5(NPC1):c.1549G>A (p.Val517Ile) rs201791992
NM_000271.5(NPC1):c.1550T>A (p.Val517Glu) rs2145446753
NM_000271.5(NPC1):c.1553+14G>C
NM_000271.5(NPC1):c.1553+17A>G
NM_000271.5(NPC1):c.1553+18A>T
NM_000271.5(NPC1):c.1553+7G>A rs2145446691
NM_000271.5(NPC1):c.1553+9C>G rs2145446678
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1554-1009G>T
NM_000271.5(NPC1):c.1554-14A>G
NM_000271.5(NPC1):c.1554-15del
NM_000271.5(NPC1):c.1554-17T>C
NM_000271.5(NPC1):c.1554-18T>C
NM_000271.5(NPC1):c.1554-19T>C
NM_000271.5(NPC1):c.1554-4G>A
NM_000271.5(NPC1):c.1554-7T>C
NM_000271.5(NPC1):c.1554-7T>G rs559970885
NM_000271.5(NPC1):c.1554-9T>C
NM_000271.5(NPC1):c.1554-9T>G rs2145433762
NM_000271.5(NPC1):c.1557T>C (p.Ala519=) rs546384677
NM_000271.5(NPC1):c.1558C>T (p.Pro520Ser)
NM_000271.5(NPC1):c.1561G>A (p.Ala521Thr) rs138184115
NM_000271.5(NPC1):c.1569G>T (p.Leu523=) rs1376770067
NM_000271.5(NPC1):c.1575T>C (p.Asp525=)
NM_000271.5(NPC1):c.1580G>A (p.Ser527Asn)
NM_000271.5(NPC1):c.1590T>C (p.His530=)
NM_000271.5(NPC1):c.1596T>C (p.Pro532=) rs1567961433
NM_000271.5(NPC1):c.1596T>G (p.Pro532=) rs1567961433
NM_000271.5(NPC1):c.1599T>C (p.Cys533=)
NM_000271.5(NPC1):c.15C>T (p.Gly5=)
NM_000271.5(NPC1):c.1607C>T (p.Thr536Met)
NM_000271.5(NPC1):c.1612G>C (p.Gly538Arg) rs2145433298
NM_000271.5(NPC1):c.1617A>C (p.Gly539=)
NM_000271.5(NPC1):c.1618_1619insGTAC (p.Pro540fs)
NM_000271.5(NPC1):c.1620A>C (p.Pro540=)
NM_000271.5(NPC1):c.1620A>G (p.Pro540=)
NM_000271.5(NPC1):c.1621G>A (p.Val541Met) rs2058874338
NM_000271.5(NPC1):c.1626C>T (p.Phe542=) rs2145433201
NM_000271.5(NPC1):c.1627C>T (p.Pro543Ser) rs2145433190
NM_000271.5(NPC1):c.1628del (p.Pro543fs) rs1555635957
NM_000271.5(NPC1):c.1631G>A (p.Trp544Ter)
NM_000271.5(NPC1):c.1638G>A (p.Val546=) rs2145433093
NM_000271.5(NPC1):c.1653T>C (p.Asp551=)
NM_000271.5(NPC1):c.1654+15C>G rs753138623
NM_000271.5(NPC1):c.1654+15C>T
NM_000271.5(NPC1):c.1654+1G>A rs2145433024
NM_000271.5(NPC1):c.1654+20A>G
NM_000271.5(NPC1):c.1654+9G>C
NM_000271.5(NPC1):c.1654G>T (p.Asp552Tyr) rs2145433031
NM_000271.5(NPC1):c.1655-10T>C rs771040873
NM_000271.5(NPC1):c.1655-16C>T
NM_000271.5(NPC1):c.1655-4C>T
NM_000271.5(NPC1):c.1655-7T>C
NM_000271.5(NPC1):c.165A>C (p.Gly55=)
NM_000271.5(NPC1):c.1662C>T (p.Asn554=) rs778002425
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr) rs201156397
NM_000271.5(NPC1):c.1674C>A (p.Ala558=)
NM_000271.5(NPC1):c.167A>G (p.Tyr56Cys)
NM_000271.5(NPC1):c.1683T>G (p.Leu561=)
NM_000271.5(NPC1):c.1684G>A (p.Val562Met) rs1476758898
NM_000271.5(NPC1):c.1686G>C (p.Val562=)
NM_000271.5(NPC1):c.169G>A (p.Asp57Asn)
NM_000271.5(NPC1):c.16C>T (p.Leu6=)
NM_000271.5(NPC1):c.1710C>T (p.Tyr570=)
NM_000271.5(NPC1):c.1714A>G (p.Asn572Asp) rs2058813808
NM_000271.5(NPC1):c.1722A>G (p.Thr574=)
NM_000271.5(NPC1):c.1728G>A (p.Lys576=) rs1218395394
NM_000271.5(NPC1):c.1731C>G (p.Leu577=)
NM_000271.5(NPC1):c.1734G>A (p.Gln578=) rs2145417067
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
NM_000271.5(NPC1):c.1741dup (p.Gln581fs)
NM_000271.5(NPC1):c.1745C>A (p.Ala582Asp)
NM_000271.5(NPC1):c.1746C>G (p.Ala582=)
NM_000271.5(NPC1):c.1746C>T (p.Ala582=) rs2145417026
NM_000271.5(NPC1):c.1752A>G (p.Glu584=) rs2145416997
NM_000271.5(NPC1):c.1754_1755del (p.Lys585fs)
NM_000271.5(NPC1):c.1757+10T>C rs1799289518
NM_000271.5(NPC1):c.1757+12A>G
NM_000271.5(NPC1):c.1757+13T>A
NM_000271.5(NPC1):c.1757+14G>A
NM_000271.5(NPC1):c.1757+19T>C
NM_000271.5(NPC1):c.1757+19dup
NM_000271.5(NPC1):c.1757+1G>A
NM_000271.5(NPC1):c.1757+3G>T
NM_000271.5(NPC1):c.1757+7dup rs1393257139
NM_000271.5(NPC1):c.1757+8A>G
NM_000271.5(NPC1):c.1757+8A>T
NM_000271.5(NPC1):c.1757+9C>T rs2145416919
NM_000271.5(NPC1):c.1757_1757+1del
NM_000271.5(NPC1):c.1758-14_1758-13dup
NM_000271.5(NPC1):c.1758-17T>G
NM_000271.5(NPC1):c.1758-3_1761del
NM_000271.5(NPC1):c.1758-8C>T
NM_000271.5(NPC1):c.175G>A (p.Val59Met)
NM_000271.5(NPC1):c.1764dup (p.Asn589Ter)
NM_000271.5(NPC1):c.1770del (p.Phe590fs)
NM_000271.5(NPC1):c.1782C>T (p.Tyr594=) rs2145406178
NM_000271.5(NPC1):c.1783A>G (p.Lys595Glu) rs2145406160
NM_000271.5(NPC1):c.1784A>C (p.Lys595Thr)
NM_000271.5(NPC1):c.1788T>C (p.Asn596=) rs2145406115
NM_000271.5(NPC1):c.178C>T (p.Gln60Ter)
NM_000271.5(NPC1):c.1794T>C (p.Asn598=)
NM_000271.5(NPC1):c.180+11T>C
NM_000271.5(NPC1):c.180+13T>A
NM_000271.5(NPC1):c.180+13T>C rs556162692
NM_000271.5(NPC1):c.180+17A>G
NM_000271.5(NPC1):c.180+19G>A
NM_000271.5(NPC1):c.180+19G>T
NM_000271.5(NPC1):c.180+1G>C rs2059231880
NM_000271.5(NPC1):c.180+1G>T
NM_000271.5(NPC1):c.180+20C>T
NM_000271.5(NPC1):c.180+7T>C
NM_000271.5(NPC1):c.180+8C>A rs778096289
NM_000271.5(NPC1):c.180+9A>G rs201021412
NM_000271.5(NPC1):c.1800C>T (p.Thr600=)
NM_000271.5(NPC1):c.1804T>C (p.Ser602Pro)
NM_000271.5(NPC1):c.1809C>T (p.Phe603=)
NM_000271.5(NPC1):c.181-10C>A
NM_000271.5(NPC1):c.181-10C>T rs2145545058
NM_000271.5(NPC1):c.181-17G>C
NM_000271.5(NPC1):c.181-19G>A
NM_000271.5(NPC1):c.181-4A>G
NM_000271.5(NPC1):c.181-7C>T rs2145545045
NM_000271.5(NPC1):c.1812T>G (p.Thr604=)
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter) rs2059213874
NM_000271.5(NPC1):c.1820G>A (p.Arg607Gln)
NM_000271.5(NPC1):c.1825A>T (p.Ile609Phe)
NM_000271.5(NPC1):c.1828G>A (p.Glu610Lys)
NM_000271.5(NPC1):c.1830A>G (p.Glu610=)
NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp) rs1555634739
NM_000271.5(NPC1):c.1839A>G (p.Leu613=)
NM_000271.5(NPC1):c.1842T>C (p.Asn614=) rs1373458567
NM_000271.5(NPC1):c.1843C>A (p.Arg615Ser) rs745777805
NM_000271.5(NPC1):c.1843C>G (p.Arg615Gly)
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.1844G>A (p.Arg615His) rs773351341
NM_000271.5(NPC1):c.1844del (p.Arg615fs) rs1257362365
NM_000271.5(NPC1):c.1849dup (p.Ser617fs) rs2058769608
NM_000271.5(NPC1):c.1856G>A (p.Ser619Asn) rs992289027
NM_000271.5(NPC1):c.1863C>T (p.Val621=)
NM_000271.5(NPC1):c.1866C>T (p.Phe622=)
NM_000271.5(NPC1):c.1869C>G (p.Thr623=)
NM_000271.5(NPC1):c.1870G>C (p.Val624Leu)
NM_000271.5(NPC1):c.1872T>C (p.Val624=) rs2145405450
NM_000271.5(NPC1):c.1878T>C (p.Ile626=)
NM_000271.5(NPC1):c.187T>C (p.Cys63Arg)
NM_000271.5(NPC1):c.1887C>T (p.Ala629=)
NM_000271.5(NPC1):c.188G>A (p.Cys63Tyr) rs2145544950
NM_000271.5(NPC1):c.188G>C (p.Cys63Ser)
NM_000271.5(NPC1):c.1899A>G (p.Leu633=) rs1195898144
NM_000271.5(NPC1):c.189T>C (p.Cys63=)
NM_000271.5(NPC1):c.1901A>T (p.Tyr634Phe) rs202140203
NM_000271.5(NPC1):c.1903_1906dup (p.Ser636fs) rs2058768417
NM_000271.5(NPC1):c.1908C>T (p.Ser636=) rs2058768340
NM_000271.5(NPC1):c.1914C>A (p.Ala638=) rs2145405175
NM_000271.5(NPC1):c.1915T>C (p.Leu639=) rs2145405166
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg) rs2058768195
NM_000271.5(NPC1):c.1920G>A (p.Gly640=)
NM_000271.5(NPC1):c.1920del (p.His641fs) rs886042270
NM_000271.5(NPC1):c.1925T>C (p.Met642Thr) rs1342552552
NM_000271.5(NPC1):c.1926G>T (p.Met642Ile)
NM_000271.5(NPC1):c.192A>G (p.Pro64=) rs2145544921
NM_000271.5(NPC1):c.1941G>A (p.Arg647=) rs1333052052
NM_000271.5(NPC1):c.1941G>C (p.Arg647Ser)
NM_000271.5(NPC1):c.1943T>C (p.Leu648Pro)
NM_000271.5(NPC1):c.1945C>T (p.Leu649=)
NM_000271.5(NPC1):c.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+10G>T rs71534236
NM_000271.5(NPC1):c.1947+10_1947+11insC
NM_000271.5(NPC1):c.1947+10_1947+11insGGA
NM_000271.5(NPC1):c.1947+10_1947+11insGGC rs1555634676
NM_000271.5(NPC1):c.1947+10_1947+11insGGGAG
NM_000271.5(NPC1):c.1947+10_1947+11insGGGCG rs778092499
NM_000271.5(NPC1):c.1947+10_1947+11insGGGCGG
NM_000271.5(NPC1):c.1947+10_1947+11insGGGT rs778092499
NM_000271.5(NPC1):c.1947+10_1947+11insGGGTG rs778092499
NM_000271.5(NPC1):c.1947+10_1947+11insGGT rs1555634676
NM_000271.5(NPC1):c.1947+10_1947+11insGGTT
NM_000271.5(NPC1):c.1947+10_1947+11insT rs1555634677
NM_000271.5(NPC1):c.1947+11G>A
NM_000271.5(NPC1):c.1947+11G>C rs747957171
NM_000271.5(NPC1):c.1947+11_1947+12insA
NM_000271.5(NPC1):c.1947+11_1947+12insC rs2058765443
NM_000271.5(NPC1):c.1947+11_1947+12insGC
NM_000271.5(NPC1):c.1947+11_1947+12insGGA rs547107514
NM_000271.5(NPC1):c.1947+11_1947+12insGGC rs547107514
NM_000271.5(NPC1):c.1947+11_1947+12insGGGA rs1555634668
NM_000271.5(NPC1):c.1947+11_1947+12insGGGC rs1555634668
NM_000271.5(NPC1):c.1947+11_1947+12insGGGGA rs1555634669
NM_000271.5(NPC1):c.1947+11_1947+12insGGGGAG
NM_000271.5(NPC1):c.1947+11_1947+12insGGGGCG
NM_000271.5(NPC1):c.1947+11_1947+12insGGGGT rs1555634669
NM_000271.5(NPC1):c.1947+11_1947+12insGGGGTG
NM_000271.5(NPC1):c.1947+11_1947+12insGGGT rs1555634668
NM_000271.5(NPC1):c.1947+11_1947+12insGGT rs547107514
NM_000271.5(NPC1):c.1947+11_1947+12insGT
NM_000271.5(NPC1):c.1947+11_1947+12insT
NM_000271.5(NPC1):c.1947+11_1947+16dup rs3837910
NM_000271.5(NPC1):c.1947+12G>A
NM_000271.5(NPC1):c.1947+12G>C rs886053666
NM_000271.5(NPC1):c.1947+12_1947+13insA
NM_000271.5(NPC1):c.1947+12_1947+13insC rs1555634657
NM_000271.5(NPC1):c.1947+12_1947+13insGA
NM_000271.5(NPC1):c.1947+12_1947+13insGC rs1555634659
NM_000271.5(NPC1):c.1947+12_1947+13insGGA rs1555634658
NM_000271.5(NPC1):c.1947+12_1947+13insGGC rs1555634658
NM_000271.5(NPC1):c.1947+12_1947+13insGGGA rs1555634656
NM_000271.5(NPC1):c.1947+12_1947+13insGGGC rs1555634656
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGA rs199713263
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC rs199713263
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGT rs199713263
NM_000271.5(NPC1):c.1947+12_1947+13insGGGT rs1555634656
NM_000271.5(NPC1):c.1947+12_1947+13insGGT rs1555634658
NM_000271.5(NPC1):c.1947+12_1947+13insGT rs1555634659
NM_000271.5(NPC1):c.1947+12_1947+13insT
NM_000271.5(NPC1):c.1947+13G>A rs568769965
NM_000271.5(NPC1):c.1947+13G>C rs568769965
NM_000271.5(NPC1):c.1947+13G>T rs568769965
NM_000271.5(NPC1):c.1947+13_1947+14insA rs1555634643
NM_000271.5(NPC1):c.1947+13_1947+14insC rs1555634643
NM_000271.5(NPC1):c.1947+13_1947+14insGGA
NM_000271.5(NPC1):c.1947+13_1947+14insGGC rs771098370
NM_000271.5(NPC1):c.1947+13_1947+14insGGGA rs1555634644
NM_000271.5(NPC1):c.1947+13_1947+14insGGGC rs1555634644
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGA rs1555634642
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGC rs1555634642
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGGA rs1555634645
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGGC rs1555634645
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGGT rs1555634645
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGT rs1555634642
NM_000271.5(NPC1):c.1947+13_1947+14insGGGT
NM_000271.5(NPC1):c.1947+13_1947+14insGGT rs771098370
NM_000271.5(NPC1):c.1947+14G>A
NM_000271.5(NPC1):c.1947+14G>C
NM_000271.5(NPC1):c.1947+14_1947+15insA
NM_000271.5(NPC1):c.1947+14_1947+15insGA rs1555634633
NM_000271.5(NPC1):c.1947+14_1947+15insGGA
NM_000271.5(NPC1):c.1947+14_1947+15insGGC
NM_000271.5(NPC1):c.1947+14_1947+15insGGGA
NM_000271.5(NPC1):c.1947+14_1947+15insGGGC rs1555634634
NM_000271.5(NPC1):c.1947+14_1947+15insGGGGA
NM_000271.5(NPC1):c.1947+14_1947+15insGGGGC rs1555634632
NM_000271.5(NPC1):c.1947+14_1947+15insGGGGGT
NM_000271.5(NPC1):c.1947+14_1947+15insGGGGT rs1555634632
NM_000271.5(NPC1):c.1947+14_1947+15insGGGT rs1555634634
NM_000271.5(NPC1):c.1947+14_1947+15insGGT
NM_000271.5(NPC1):c.1947+14_1947+15insGT rs1555634633
NM_000271.5(NPC1):c.1947+14_1947+15insT
NM_000271.5(NPC1):c.1947+15G>C rs1238986430
NM_000271.5(NPC1):c.1947+15G>T
NM_000271.5(NPC1):c.1947+15_1947+16insGA
NM_000271.5(NPC1):c.1947+15_1947+16insGC rs72283949
NM_000271.5(NPC1):c.1947+15_1947+16insGGA rs1555634624
NM_000271.5(NPC1):c.1947+15_1947+16insGGC rs1555634624
NM_000271.5(NPC1):c.1947+15_1947+16insGGGA
NM_000271.5(NPC1):c.1947+15_1947+16insGGGC rs1555634625
NM_000271.5(NPC1):c.1947+15_1947+16insGGGGC rs1555634623
NM_000271.5(NPC1):c.1947+15_1947+16insGGGGGC
NM_000271.5(NPC1):c.1947+15_1947+16insGGGGGT
NM_000271.5(NPC1):c.1947+15_1947+16insGGGGT
NM_000271.5(NPC1):c.1947+15_1947+16insGGGT rs1555634625
NM_000271.5(NPC1):c.1947+15_1947+16insGGT rs1555634624
NM_000271.5(NPC1):c.1947+15_1947+16insGT rs72283949
NM_000271.5(NPC1):c.1947+15_1947+16insGTT rs72283949
NM_000271.5(NPC1):c.1947+15_1947+19dup rs1555634596
NM_000271.5(NPC1):c.1947+16_1947+17insGGA rs1555634621
NM_000271.5(NPC1):c.1947+16_1947+17insGGC
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGA
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGC
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGGA
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGGC rs55809701
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGGT
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGT rs1555634620
NM_000271.5(NPC1):c.1947+16_1947+17insGGGT rs55809701
NM_000271.5(NPC1):c.1947+16_1947+19dup rs1555634597
NM_000271.5(NPC1):c.1947+16del rs3837910
NM_000271.5(NPC1):c.1947+17T>C
NM_000271.5(NPC1):c.1947+17_1947+18dup
NM_000271.5(NPC1):c.1947+17del
NM_000271.5(NPC1):c.1947+18_1947+19dup
NM_000271.5(NPC1):c.1947+19_1947+20insGGG
NM_000271.5(NPC1):c.1947+19_1947+20insGGGG rs770879191
NM_000271.5(NPC1):c.1947+19_1947+20insGGGGG
NM_000271.5(NPC1):c.1947+19dup
NM_000271.5(NPC1):c.1947+6dup rs1555634619
NM_000271.5(NPC1):c.1947+7C>G rs56394541
NM_000271.5(NPC1):c.1947+7_1947+12dup rs1555634660
NM_000271.5(NPC1):c.1947+7_1947+13dup
NM_000271.5(NPC1):c.1947+7_1947+8insA rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insAGGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCAGG
NM_000271.5(NPC1):c.1947+7_1947+8insCG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGCGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGAG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGCG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGCGG
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGGGG
NM_000271.5(NPC1):c.1947+7_1947+8insT rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insTGGG
NM_000271.5(NPC1):c.1947+8G>A rs66620415
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+12dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9insC rs768629263
NM_000271.5(NPC1):c.1947+8_1947+9insGAGGG rs1555634688
NM_000271.5(NPC1):c.1947+8_1947+9insGCG rs1555634688
NM_000271.5(NPC1):c.1947+8_1947+9insGCGG rs1555634688
NM_000271.5(NPC1):c.1947+8_1947+9insGCGGG rs1555634688
NM_000271.5(NPC1):c.1947+8_1947+9insGTGG
NM_000271.5(NPC1):c.1947+8_1947+9insGTGGG rs1555634688
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.1947+9_1947+10insA rs1555634683
NM_000271.5(NPC1):c.1947+9_1947+10insC rs1555634683
NM_000271.5(NPC1):c.1947+9_1947+10insGC rs1555634684
NM_000271.5(NPC1):c.1947+9_1947+10insGGA rs772150994
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG rs772150994
NM_000271.5(NPC1):c.1947+9_1947+10insGGAGG rs772150994
NM_000271.5(NPC1):c.1947+9_1947+10insGGAGGG rs772150994
NM_000271.5(NPC1):c.1947+9_1947+10insGGCG rs772150994
NM_000271.5(NPC1):c.1947+9_1947+10insGGCGG rs772150994
NM_000271.5(NPC1):c.1947+9_1947+10insGGCGGG
NM_000271.5(NPC1):c.1947+9_1947+10insGGT
NM_000271.5(NPC1):c.1947+9_1947+10insGGTG
NM_000271.5(NPC1):c.1947+9_1947+10insGGTGG
NM_000271.5(NPC1):c.1947+9_1947+10insGGTGGG
NM_000271.5(NPC1):c.1947+9_1947+10insT rs1555634683
NM_000271.5(NPC1):c.1948-11G>C
NM_000271.5(NPC1):c.1948-20G>C
NM_000271.5(NPC1):c.1948-20G>T
NM_000271.5(NPC1):c.1948-4T>A rs2145400860
NM_000271.5(NPC1):c.1948-8T>C
NM_000271.5(NPC1):c.1955C>G (p.Ser652Trp)
NM_000271.5(NPC1):c.1955C>T (p.Ser652Leu)
NM_000271.5(NPC1):c.1956G>T (p.Ser652=) rs759777593
NM_000271.5(NPC1):c.1965A>G (p.Ser655=) rs754438938
NM_000271.5(NPC1):c.1965A>T (p.Ser655=) rs754438938
NM_000271.5(NPC1):c.1971C>G (p.Gly657=)
NM_000271.5(NPC1):c.1971C>T (p.Gly657=)
NM_000271.5(NPC1):c.1972A>G (p.Ile658Val)
NM_000271.5(NPC1):c.1975G>A (p.Ala659Thr)
NM_000271.5(NPC1):c.1977G>A (p.Ala659=) rs773827934
NM_000271.5(NPC1):c.1978G>A (p.Gly660Ser) rs1555634490
NM_000271.5(NPC1):c.1980C>T (p.Gly660=)
NM_000271.5(NPC1):c.1984T>A (p.Leu662Met)
NM_000271.5(NPC1):c.1989C>T (p.Ile663=) rs550696790
NM_000271.5(NPC1):c.198C>A (p.Phe66Leu)
NM_000271.5(NPC1):c.198C>T (p.Phe66=) rs1464483708
NM_000271.5(NPC1):c.1990G>C (p.Val664Leu) rs376213990
NM_000271.5(NPC1):c.1997G>A (p.Ser666Asn)
NM_000271.5(NPC1):c.2000C>T (p.Ser667Leu) rs2058756032
NM_000271.5(NPC1):c.2001G>T (p.Ser667=) rs762100560
NM_000271.5(NPC1):c.2004G>T (p.Val668=)
NM_000271.5(NPC1):c.2010C>T (p.Cys670=) rs2058755824
NM_000271.5(NPC1):c.2013C>T (p.Ser671=) rs1017732790
NM_000271.5(NPC1):c.201C>T (p.Phe67=)
NM_000271.5(NPC1):c.2027G>C (p.Ser676Thr) rs2145400163
NM_000271.5(NPC1):c.2037G>C (p.Gly679=) rs923334902
NM_000271.5(NPC1):c.2039dup (p.Leu680fs) rs2145400078
NM_000271.5(NPC1):c.2043C>G (p.Pro681=) rs754244869
NM_000271.5(NPC1):c.2044T>A (p.Leu682Met)
NM_000271.5(NPC1):c.2046G>A (p.Leu682=) rs1598954616
NM_000271.5(NPC1):c.2052C>T (p.Leu684=) rs2145399941
NM_000271.5(NPC1):c.2053A>C (p.Ile685Leu)
NM_000271.5(NPC1):c.2059A>G (p.Ile687Val) rs2058754612
NM_000271.5(NPC1):c.2061T>C (p.Ile687=)
NM_000271.5(NPC1):c.2064A>G (p.Glu688=)
NM_000271.5(NPC1):c.2071C>G (p.Pro691Ala) rs2058754429
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln) rs1555634422
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu) rs1555634422
NM_000271.5(NPC1):c.2076C>T (p.Phe692=)
NM_000271.5(NPC1):c.2079G>A (p.Leu693=) rs2058754303
NM_000271.5(NPC1):c.2083C>T (p.Leu695=)
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
NM_000271.5(NPC1):c.208A>T (p.Asn70Tyr) rs2145544807
NM_000271.5(NPC1):c.2094A>G (p.Gly698=) rs1598954463
NM_000271.5(NPC1):c.2096_2097dup (p.Asp700fs)
NM_000271.5(NPC1):c.2096del (p.Val699fs) rs1598954455
NM_000271.5(NPC1):c.2102_2103inv (p.Asn701Ser)
NM_000271.5(NPC1):c.2108T>C (p.Phe703Ser) rs2058753693
NM_000271.5(NPC1):c.2115G>A (p.Leu705=)
NM_000271.5(NPC1):c.2117T>C (p.Val706Ala)
NM_000271.5(NPC1):c.2124C>T (p.Ala708=)
NM_000271.5(NPC1):c.2126A>C (p.Tyr709Ser)
NM_000271.5(NPC1):c.2126A>T (p.Tyr709Phe)
NM_000271.5(NPC1):c.2127C>T (p.Tyr709=)
NM_000271.5(NPC1):c.2129del (p.Gln710fs) rs2058753352
NM_000271.5(NPC1):c.2130+10C>A rs776389852
NM_000271.5(NPC1):c.2130+11A>G
NM_000271.5(NPC1):c.2130+12T>C
NM_000271.5(NPC1):c.2130+16C>G
NM_000271.5(NPC1):c.2130+18C>T
NM_000271.5(NPC1):c.2130+20C>A
NM_000271.5(NPC1):c.2130+5A>G
NM_000271.5(NPC1):c.2131-16T>G rs2145395529
NM_000271.5(NPC1):c.2131-20T>A rs915506749
NM_000271.5(NPC1):c.2131-20T>G
NM_000271.5(NPC1):c.2131-23_2131-19del
NM_000271.5(NPC1):c.2131-23_2131-20del
NM_000271.5(NPC1):c.2133A>G (p.Arg711=)
NM_000271.5(NPC1):c.2134G>A (p.Asp712Asn)
NM_000271.5(NPC1):c.2134G>T (p.Asp712Tyr)
NM_000271.5(NPC1):c.2150G>A (p.Gly717Glu)
NM_000271.5(NPC1):c.2158C>G (p.Leu720Val)
NM_000271.5(NPC1):c.2161G>A (p.Asp721Asn)
NM_000271.5(NPC1):c.2166G>A (p.Gln722=)
NM_000271.5(NPC1):c.2169G>A (p.Gln723=) rs2145395069
NM_000271.5(NPC1):c.2170C>T (p.Leu724=)
NM_000271.5(NPC1):c.2170del (p.Leu724fs)
NM_000271.5(NPC1):c.2171T>C (p.Leu724Pro)
NM_000271.5(NPC1):c.2175C>A (p.Gly725=) rs2058741488
NM_000271.5(NPC1):c.2175C>G (p.Gly725=) rs2058741488
NM_000271.5(NPC1):c.2175dup (p.Arg726fs)
NM_000271.5(NPC1):c.2179del (p.Val727fs) rs2145394955
NM_000271.5(NPC1):c.217C>T (p.Leu73Phe)
NM_000271.5(NPC1):c.2181C>G (p.Val727=)
NM_000271.5(NPC1):c.2182C>T (p.Leu728=)
NM_000271.5(NPC1):c.2184A>C (p.Leu728=) rs1396587033
NM_000271.5(NPC1):c.2197C>A (p.Pro733Thr)
NM_000271.5(NPC1):c.2198C>T (p.Pro733Leu)
NM_000271.5(NPC1):c.21C>T (p.Ala7=) rs2059418475
NM_000271.5(NPC1):c.2200A>G (p.Ser734Gly) rs2145394815
NM_000271.5(NPC1):c.2200A>T (p.Ser734Cys)
NM_000271.5(NPC1):c.2201G>C (p.Ser734Thr)
NM_000271.5(NPC1):c.2211G>C (p.Leu737=)
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter) rs777286835
NM_000271.5(NPC1):c.2217C>T (p.Ser739=)
NM_000271.5(NPC1):c.2222C>T (p.Ser741Phe)
NM_000271.5(NPC1):c.2224G>A (p.Glu742Lys) rs1555634202
NM_000271.5(NPC1):c.2228C>T (p.Thr743Ile)
NM_000271.5(NPC1):c.2229T>G (p.Thr743=) rs1029406487
NM_000271.5(NPC1):c.2235A>G (p.Ala745=)
NM_000271.5(NPC1):c.2238T>C (p.Phe746=) rs2145394616
NM_000271.5(NPC1):c.2241C>G (p.Phe747Leu)
NM_000271.5(NPC1):c.2245+12T>C
NM_000271.5(NPC1):c.2245+14C>T
NM_000271.5(NPC1):c.2245+1G>A
NM_000271.5(NPC1):c.2245+20T>C
NM_000271.5(NPC1):c.2245+9G>C rs2058740364
NM_000271.5(NPC1):c.2246-10T>C
NM_000271.5(NPC1):c.2246-11C>G
NM_000271.5(NPC1):c.2246-11C>T
NM_000271.5(NPC1):c.2246-13C>A
NM_000271.5(NPC1):c.2246-13C>T
NM_000271.5(NPC1):c.2246-14T>C rs747500685
NM_000271.5(NPC1):c.2246-16C>T
NM_000271.5(NPC1):c.2246-17_2246-16del
NM_000271.5(NPC1):c.2246-2A>G rs2058712401
NM_000271.5(NPC1):c.2246-5G>A rs77289650
NM_000271.5(NPC1):c.2246-5G>C rs77289650
NM_000271.5(NPC1):c.2246-5del rs2145383531
NM_000271.5(NPC1):c.2246-9C>G rs372137658
NM_000271.5(NPC1):c.2246-9C>T
NM_000271.5(NPC1):c.2256C>A (p.Ser752=) rs199641393
NM_000271.5(NPC1):c.2256C>G (p.Ser752=) rs199641393
NM_000271.5(NPC1):c.2256C>T (p.Ser752=) rs199641393
NM_000271.5(NPC1):c.2274C>T (p.His758=)
NM_000271.5(NPC1):c.2281T>A (p.Ser761Thr)
NM_000271.5(NPC1):c.2286_2287del (p.Phe763fs) rs1057518613
NM_000271.5(NPC1):c.2286_2289del (p.Phe763fs)
NM_000271.5(NPC1):c.2289T>C (p.Phe763=) rs2058711785
NM_000271.5(NPC1):c.228T>C (p.Asp76=)
NM_000271.5(NPC1):c.2290G>T (p.Ala764Ser)
NM_000271.5(NPC1):c.2291C>T (p.Ala764Val) rs773765255
NM_000271.5(NPC1):c.2296T>C (p.Leu766=) rs1598948918
NM_000271.5(NPC1):c.2301A>T (p.Ala767=)
NM_000271.5(NPC1):c.2309T>C (p.Ile770Thr) rs2145382914
NM_000271.5(NPC1):c.2316T>C (p.Phe772=)
NM_000271.5(NPC1):c.2319T>C (p.Leu773=) rs2145382820
NM_000271.5(NPC1):c.2319T>G (p.Leu773=) rs2145382820
NM_000271.5(NPC1):c.2322G>C (p.Leu774=) rs1173331930
NM_000271.5(NPC1):c.2323C>T (p.Gln775Ter)
NM_000271.5(NPC1):c.2325G>A (p.Gln775=) rs2145382741
NM_000271.5(NPC1):c.2328T>C (p.Ile776=)
NM_000271.5(NPC1):c.2330C>T (p.Thr777Ile) rs750232059
NM_000271.5(NPC1):c.2336del (p.Phe779fs)
NM_000271.5(NPC1):c.2338G>A (p.Val780Met)
NM_000271.5(NPC1):c.2351G>C (p.Gly784Ala)
NM_000271.5(NPC1):c.2352G>A (p.Gly784=)
NM_000271.5(NPC1):c.2358C>T (p.Asp786=)
NM_000271.5(NPC1):c.2360T>C (p.Ile787Thr)
NM_000271.5(NPC1):c.2361T>C (p.Ile787=)
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly) rs1555633697
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.5(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000271.5(NPC1):c.2373+13C>T
NM_000271.5(NPC1):c.2373+4A>G
NM_000271.5(NPC1):c.2380C>T (p.Arg794Trp)
NM_000271.5(NPC1):c.2384T>C (p.Leu795Pro) rs1414231528
NM_000271.5(NPC1):c.2391C>T (p.Ile797=)
NM_000271.5(NPC1):c.2394T>C (p.Phe798=)
NM_000271.5(NPC1):c.239_258del (p.Leu80fs)
NM_000271.5(NPC1):c.23T>G (p.Leu8Arg) rs1012718245
NM_000271.5(NPC1):c.2400T>C (p.Cys800=)
NM_000271.5(NPC1):c.2403C>G (p.Val801=)
NM_000271.5(NPC1):c.2417A>G (p.Asp806Gly) rs1825611761
NM_000271.5(NPC1):c.2426G>C (p.Ser809Thr) rs769133876
NM_000271.5(NPC1):c.2427C>T (p.Ser809=)
NM_000271.5(NPC1):c.2428G>A (p.Val810Ile) rs145362908
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2430C>T (p.Val810=)
NM_000271.5(NPC1):c.2431C>G (p.Gln811Glu) rs2058707982
NM_000271.5(NPC1):c.2431C>T (p.Gln811Ter)
NM_000271.5(NPC1):c.2432A>G (p.Gln811Arg) rs2145381038
NM_000271.5(NPC1):c.2436C>G (p.Ala812=)
NM_000271.5(NPC1):c.2436C>T (p.Ala812=)
NM_000271.5(NPC1):c.2440G>A (p.Glu814Lys)
NM_000271.5(NPC1):c.2442G>A (p.Glu814=)
NM_000271.5(NPC1):c.2445C>A (p.Ser815Arg) rs767708998
NM_000271.5(NPC1):c.2445C>T (p.Ser815=) rs767708998
NM_000271.5(NPC1):c.2455C>A (p.Arg819Ser) rs762226042
NM_000271.5(NPC1):c.2455C>T (p.Arg819Cys)
NM_000271.5(NPC1):c.2460C>T (p.Phe820=) rs764304407
NM_000271.5(NPC1):c.2463C>T (p.Phe821=) rs2145380752
NM_000271.5(NPC1):c.2464_2465insT (p.Lys822fs)
NM_000271.5(NPC1):c.2469C>T (p.Asn823=) rs1433563737
NM_000271.5(NPC1):c.2476T>C (p.Ser826Pro) rs2145380651
NM_000271.5(NPC1):c.2478T>A (p.Ser826=)
NM_000271.5(NPC1):c.247C>T (p.Leu83=)
NM_000271.5(NPC1):c.2485del (p.Leu829fs)
NM_000271.5(NPC1):c.2489T>C (p.Leu830Pro)
NM_000271.5(NPC1):c.248_249del (p.Leu83fs) rs2145544570
NM_000271.5(NPC1):c.2496C>T (p.Asp832=) rs748149280
NM_000271.5(NPC1):c.2498G>A (p.Trp833Ter)
NM_000271.5(NPC1):c.249A>G (p.Leu83=)
NM_000271.5(NPC1):c.24T>G (p.Leu8=)
NM_000271.5(NPC1):c.24dup (p.Gly9fs) rs2145603843
NM_000271.5(NPC1):c.2509A>G (p.Ile837Val) rs756239485
NM_000271.5(NPC1):c.2509A>T (p.Ile837Phe) rs756239485
NM_000271.5(NPC1):c.2511T>G (p.Ile837Met) rs369793282
NM_000271.5(NPC1):c.2514+10T>C rs763191940
NM_000271.5(NPC1):c.2514+10_2514+14dup
NM_000271.5(NPC1):c.2514+14T>G
NM_000271.5(NPC1):c.2514+1G>A
NM_000271.5(NPC1):c.2514+4T>G
NM_000271.5(NPC1):c.2514+9T>G rs1466320929
NM_000271.5(NPC1):c.2515-14_2515-12del
NM_000271.5(NPC1):c.2515-15C>A
NM_000271.5(NPC1):c.2515-20T>C
NM_000271.5(NPC1):c.2515-7_2515-5del rs2145378278
NM_000271.5(NPC1):c.2515-8T>C
NM_000271.5(NPC1):c.2517A>G (p.Ile839Met)
NM_000271.5(NPC1):c.2522T>A (p.Ile841Lys)
NM_000271.5(NPC1):c.2525T>C (p.Phe842Ser)
NM_000271.5(NPC1):c.2526T>A (p.Phe842Leu)
NM_000271.5(NPC1):c.2526T>C (p.Phe842=)
NM_000271.5(NPC1):c.2527G>T (p.Val843Leu)
NM_000271.5(NPC1):c.2529G>A (p.Val843=)
NM_000271.5(NPC1):c.2531del (p.Gly844fs)
NM_000271.5(NPC1):c.2532T>C (p.Gly844=) rs752998576
NM_000271.5(NPC1):c.2535T>G (p.Val845=) rs2058699211
NM_000271.5(NPC1):c.2536_2537del (p.Leu846fs)
NM_000271.5(NPC1):c.2550C>T (p.Ile850=) rs542171272
NM_000271.5(NPC1):c.2553A>G (p.Ala851=)
NM_000271.5(NPC1):c.2556C>G (p.Val852=)
NM_000271.5(NPC1):c.2567T>C (p.Val856Ala)
NM_000271.5(NPC1):c.2571_2572delinsCG (p.Ile858Val)
NM_000271.5(NPC1):c.2578T>C (p.Leu860=) rs1392853327
NM_000271.5(NPC1):c.2591_2594del (p.Leu864fs)
NM_000271.5(NPC1):c.2593T>A (p.Ser865Thr)
NM_000271.5(NPC1):c.2593T>C (p.Ser865Pro)
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu) rs1160114136
NM_000271.5(NPC1):c.2603A>T (p.Asp868Val)
NM_000271.5(NPC1):c.2604+11T>C
NM_000271.5(NPC1):c.2604+14C>T rs1332752050
NM_000271.5(NPC1):c.2604+14_2604+15del
NM_000271.5(NPC1):c.2604+14_2604+17del rs775803617
NM_000271.5(NPC1):c.2604+15T>C
NM_000271.5(NPC1):c.2604+19T>C
NM_000271.5(NPC1):c.2604+1G>A rs1555633454
NM_000271.5(NPC1):c.2604+3A>G
NM_000271.5(NPC1):c.2604+5G>A rs2058697907
NM_000271.5(NPC1):c.2604+7T>C
NM_000271.5(NPC1):c.2604+7_2604+9dup rs762002508
NM_000271.5(NPC1):c.2604+8G>T rs1258459284
NM_000271.5(NPC1):c.2604+8_2604+71del rs2058696209
NM_000271.5(NPC1):c.2604+9A>C
NM_000271.5(NPC1):c.2604+9A>G
NM_000271.5(NPC1):c.2605-13A>G
NM_000271.5(NPC1):c.2605-14del
NM_000271.5(NPC1):c.2605-15T>C
NM_000271.5(NPC1):c.2605-17T>C
NM_000271.5(NPC1):c.2605-18_2605-14del rs2058690524
NM_000271.5(NPC1):c.2605-6_2605-3del rs750411155
NM_000271.5(NPC1):c.2605-7C>T
NM_000271.5(NPC1):c.2610C>T (p.Ser870=)
NM_000271.5(NPC1):c.2613C>T (p.Tyr871=)
NM_000271.5(NPC1):c.2614A>T (p.Met872Leu)
NM_000271.5(NPC1):c.261G>A (p.Leu87=) rs2059212498
NM_000271.5(NPC1):c.2630A>C (p.Lys877Thr) rs773177148
NM_000271.5(NPC1):c.2638A>C (p.Ser880Arg) rs2145374045
NM_000271.5(NPC1):c.2641C>T (p.Gln881Ter)
NM_000271.5(NPC1):c.2645A>G (p.Tyr882Cys)
NM_000271.5(NPC1):c.2646C>T (p.Tyr882=) rs2145373926
NM_000271.5(NPC1):c.2649G>A (p.Leu883=)
NM_000271.5(NPC1):c.264G>A (p.Gln88=) rs1599008867
NM_000271.5(NPC1):c.2652T>C (p.His884=) rs779248798
NM_000271.5(NPC1):c.2654C>T (p.Ala885Val) rs769193340
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) rs1169032037
NM_000271.5(NPC1):c.2662C>T (p.Pro888Ser)
NM_000271.5(NPC1):c.2664dup (p.Val889fs) rs2058688995
NM_000271.5(NPC1):c.2667G>A (p.Val889=)
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2670C>T (p.Tyr890=) rs780592540
NM_000271.5(NPC1):c.2673T>C (p.Phe891=) rs2145373623
NM_000271.5(NPC1):c.2674G>A (p.Val892Ile)
NM_000271.5(NPC1):c.267G>A (p.Leu89=) rs761452493
NM_000271.5(NPC1):c.267G>C (p.Leu89=)
NM_000271.5(NPC1):c.2682G>A (p.Glu894=)
NM_000271.5(NPC1):c.2683G>T (p.Glu895Ter) rs2145373524
NM_000271.5(NPC1):c.2683dup (p.Glu895fs) rs1555633326
NM_000271.5(NPC1):c.2685A>G (p.Glu895=) rs2145373502
NM_000271.5(NPC1):c.2691C>T (p.His897=) rs751259112
NM_000271.5(NPC1):c.2694C>T (p.Asp898=)
NM_000271.5(NPC1):c.2699C>G (p.Thr900Ser)
NM_000271.5(NPC1):c.2703T>C (p.Ser901=) rs2145373359
NM_000271.5(NPC1):c.2706C>T (p.Ser902=) rs2058688184
NM_000271.5(NPC1):c.2712G>T (p.Gly904=) rs560122245
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.5(NPC1):c.2715G>A (p.Gln905=)
NM_000271.5(NPC1):c.271C>G (p.Leu91Val) rs773809600
NM_000271.5(NPC1):c.2727_2728insT (p.Gly910fs)
NM_000271.5(NPC1):c.2730C>A (p.Gly910=)
NM_000271.5(NPC1):c.2730C>T (p.Gly910=) rs749457981
NM_000271.5(NPC1):c.2734A>C (p.Met912Leu)
NM_000271.5(NPC1):c.2739C>A (p.Gly913=) rs2058687467
NM_000271.5(NPC1):c.2748T>C (p.Asn916=)
NM_000271.5(NPC1):c.274C>T (p.Gln92Ter)
NM_000271.5(NPC1):c.2756T>A (p.Leu919Gln)
NM_000271.5(NPC1):c.2757G>T (p.Leu919=)
NM_000271.5(NPC1):c.275A>G (p.Gln92Arg)
NM_000271.5(NPC1):c.2760G>A (p.Val920=) rs2145372899
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2767A>G (p.Ile923Val) rs2058687030
NM_000271.5(NPC1):c.2775del (p.Asn925fs) rs1057516603
NM_000271.5(NPC1):c.2779G>A (p.Ala927Thr)
NM_000271.5(NPC1):c.2780C>G (p.Ala927Gly)
NM_000271.5(NPC1):c.2787G>A (p.Leu929=)
NM_000271.5(NPC1):c.2795+14T>C
NM_000271.5(NPC1):c.2796-15G>A
NM_000271.5(NPC1):c.2796-15G>C
NM_000271.5(NPC1):c.2796-16TGTC[3]
NM_000271.5(NPC1):c.2796-17C>G
NM_000271.5(NPC1):c.2796-17C>T
NM_000271.5(NPC1):c.2796-18C>G
NM_000271.5(NPC1):c.2796-19C>A rs2145371033
NM_000271.5(NPC1):c.2796-2A>T
NM_000271.5(NPC1):c.2796-4C>G rs374406578
NM_000271.5(NPC1):c.2796-5T>C
NM_000271.5(NPC1):c.2796-7T>G rs2145370948
NM_000271.5(NPC1):c.2798C>T (p.Thr933Ile) rs752107020
NM_000271.5(NPC1):c.2799C>A (p.Thr933=) rs759606859
NM_000271.5(NPC1):c.2799C>G (p.Thr933=)
NM_000271.5(NPC1):c.2808C>T (p.Gly936=) rs1567949544
NM_000271.5(NPC1):c.2812G>A (p.Ala938Thr)
NM_000271.5(NPC1):c.2818T>C (p.Ser940Pro)
NM_000271.5(NPC1):c.2823del (p.Trp942fs) rs2145370732
NM_000271.5(NPC1):c.282G>A (p.Leu94=)
NM_000271.5(NPC1):c.2835T>C (p.Asp945=)
NM_000271.5(NPC1):c.2836T>A (p.Tyr946Asn)
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)
NM_000271.5(NPC1):c.2857_2858del (p.Gln953fs) rs2145370503
NM_000271.5(NPC1):c.2858A>G (p.Gln953Arg)
NM_000271.5(NPC1):c.287+10G>C rs2145544277
NM_000271.5(NPC1):c.287+15G>A
NM_000271.5(NPC1):c.287+16G>A
NM_000271.5(NPC1):c.287+19A>G
NM_000271.5(NPC1):c.287+5G>C rs2145544311
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.5(NPC1):c.2874A>T (p.Arg958=) rs2145370342
NM_000271.5(NPC1):c.2878dup (p.Asp960fs)
NM_000271.5(NPC1):c.288-12del
NM_000271.5(NPC1):c.288-14T>A
NM_000271.5(NPC1):c.288-14T>C
NM_000271.5(NPC1):c.288-17A>T
NM_000271.5(NPC1):c.288-8T>C
NM_000271.5(NPC1):c.2892C>T (p.Asp964=) rs2145370277
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.5(NPC1):c.2897T>A (p.Phe966Tyr) rs2145370245
NM_000271.5(NPC1):c.2898C>T (p.Phe966=) rs2145370238
NM_000271.5(NPC1):c.2908dup (p.Ser970fs)
NM_000271.5(NPC1):c.2910A>G (p.Ser970=)
NM_000271.5(NPC1):c.2911+11C>T
NM_000271.5(NPC1):c.2911+14T>C
NM_000271.5(NPC1):c.2911+15_2911+25del
NM_000271.5(NPC1):c.2911+17C>T
NM_000271.5(NPC1):c.2911+20A>G
NM_000271.5(NPC1):c.2911+20del
NM_000271.5(NPC1):c.2911+2del rs2058678962
NM_000271.5(NPC1):c.2911+6T>A
NM_000271.5(NPC1):c.2911G>A (p.Val971Met) rs928977082
NM_000271.5(NPC1):c.2912-15G>A
NM_000271.5(NPC1):c.2912-17C>A
NM_000271.5(NPC1):c.2912-18C>T
NM_000271.5(NPC1):c.2912-19C>T
NM_000271.5(NPC1):c.2912-2A>C rs1555632994
NM_000271.5(NPC1):c.2912-3C>G rs483352892
NM_000271.5(NPC1):c.2912-5G>T rs369985476
NM_000271.5(NPC1):c.2912-7C>T
NM_000271.5(NPC1):c.2912-9C>G
NM_000271.5(NPC1):c.2913G>A (p.Val971=)
NM_000271.5(NPC1):c.2926T>C (p.Cys976Arg)
NM_000271.5(NPC1):c.2928C>A (p.Cys976Ter) rs370766410
NM_000271.5(NPC1):c.2929G>A (p.Val977Ile)
NM_000271.5(NPC1):c.2932C>A (p.Arg978Ser) rs28942108
NM_000271.5(NPC1):c.2937C>T (p.Cys979=) rs199900435
NM_000271.5(NPC1):c.2943T>A (p.Pro981=) rs2145366971
NM_000271.5(NPC1):c.2943T>C (p.Pro981=) rs2145366971
NM_000271.5(NPC1):c.294A>G (p.Pro98=) rs2145527506
NM_000271.5(NPC1):c.2950C>G (p.Pro984Ala)
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs) rs2145366898
NM_000271.5(NPC1):c.2958C>T (p.Gly986=)
NM_000271.5(NPC1):c.2960_2963del (p.Lys987fs) rs2145366821
NM_000271.5(NPC1):c.2961A>G (p.Lys987=) rs2145366840
NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs) rs1555632977
NM_000271.5(NPC1):c.2967G>A (p.Arg989=) rs2145366791
NM_000271.5(NPC1):c.2973G>A (p.Gln991=) rs201118975
NM_000271.5(NPC1):c.2973G>C (p.Gln991His) rs201118975
NM_000271.5(NPC1):c.2973G>T (p.Gln991His)
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp) rs1555632971
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
NM_000271.5(NPC1):c.2977_2978dup (p.Asp994fs)
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.2982C>T (p.Asp994=)
NM_000271.5(NPC1):c.2991A>T (p.Arg997Ser) rs2145366523
NM_000271.5(NPC1):c.2995C>T (p.Leu999=) rs2145366501
NM_000271.5(NPC1):c.2997G>T (p.Leu999=)
NM_000271.5(NPC1):c.3000C>T (p.Pro1000=)
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val) rs2058666849
NM_000271.5(NPC1):c.3003G>A (p.Met1001Ile) rs2145366464
NM_000271.5(NPC1):c.3006C>T (p.Phe1002=) rs1459424416
NM_000271.5(NPC1):c.3012G>C (p.Ser1004=) rs182413311
NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu) rs764789542
NM_000271.5(NPC1):c.3024C>T (p.Asn1008=) rs2145366358
NM_000271.5(NPC1):c.3025_3026insTAAC (p.Pro1009fs) rs1352485089
NM_000271.5(NPC1):c.3035G>A (p.Gly1012Asp)
NM_000271.5(NPC1):c.303T>C (p.Phe101=) rs2145527436
NM_000271.5(NPC1):c.3041+11C>T
NM_000271.5(NPC1):c.3041+16A>T
NM_000271.5(NPC1):c.3041+17T>C
NM_000271.5(NPC1):c.3041+20C>A
NM_000271.5(NPC1):c.3041+2del rs2058665849
NM_000271.5(NPC1):c.3041+8C>G
NM_000271.5(NPC1):c.3041+8C>T rs756149557
NM_000271.5(NPC1):c.3041+8del
NM_000271.5(NPC1):c.3042-17del
NM_000271.5(NPC1):c.3042-1G>A rs771806960
NM_000271.5(NPC1):c.3042-2_3042-1del
NM_000271.5(NPC1):c.3042-4T>G rs772897780
NM_000271.5(NPC1):c.3042-9T>C rs1598939834
NM_000271.5(NPC1):c.3044G>T (p.Gly1015Val) rs761773567
NM_000271.5(NPC1):c.3051T>C (p.Ala1017=) rs2145358114
NM_000271.5(NPC1):c.3053C>T (p.Ala1018Val) rs2145358077
NM_000271.5(NPC1):c.3057T>C (p.Tyr1019=)
NM_000271.5(NPC1):c.3068T>G (p.Val1023Gly) rs2145357984
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter) rs751249367
NM_000271.5(NPC1):c.3081T>C (p.Leu1027=) rs2145357954
NM_000271.5(NPC1):c.3081_3082dup (p.Gly1028fs)
NM_000271.5(NPC1):c.3083_3084del (p.Gly1028fs) rs1274484561
NM_000271.5(NPC1):c.3086A>G (p.His1029Arg) rs747201863
NM_000271.5(NPC1):c.3086dup (p.His1029fs)
NM_000271.5(NPC1):c.3087T>C (p.His1029=)
NM_000271.5(NPC1):c.3094A>C (p.Arg1032=)
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg) rs2058637844
NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)
NM_000271.5(NPC1):c.3105C>T (p.Ala1035=)
NM_000271.5(NPC1):c.3106A>G (p.Thr1036Ala)
NM_000271.5(NPC1):c.3106A>T (p.Thr1036Ser)
NM_000271.5(NPC1):c.3108_3111del (p.Tyr1037fs) rs2145357685
NM_000271.5(NPC1):c.310C>A (p.Leu104Ile) rs2145527400
NM_000271.5(NPC1):c.3114C>T (p.Phe1038=)
NM_000271.5(NPC1):c.3120C>T (p.Thr1040=)
NM_000271.5(NPC1):c.3122dup (p.Tyr1041Ter) rs2145357627
NM_000271.5(NPC1):c.3126C>T (p.His1042=) rs2145357603
NM_000271.5(NPC1):c.312A>G (p.Leu104=) rs2059164993
NM_000271.5(NPC1):c.3133C>T (p.Leu1045=)
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3135dup (p.Gln1046fs)
NM_000271.5(NPC1):c.3138G>T (p.Gln1046His) rs1385614579
NM_000271.5(NPC1):c.3141C>G (p.Thr1047=) rs2145357418
NM_000271.5(NPC1):c.3147T>C (p.Ala1049=)
NM_000271.5(NPC1):c.3152T>C (p.Phe1051Ser)
NM_000271.5(NPC1):c.3152_3153del (p.Phe1051fs) rs2145357371
NM_000271.5(NPC1):c.3153T>C (p.Phe1051=)
NM_000271.5(NPC1):c.316A>G (p.Asn106Asp) rs2145527323
NM_000271.5(NPC1):c.3172G>A (p.Ala1058Thr)
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.5(NPC1):c.3176G>A (p.Arg1059Gln)
NM_000271.5(NPC1):c.3177A>G (p.Arg1059=)
NM_000271.5(NPC1):c.3183A>G (p.Ile1061Met) rs967206412
NM_000271.5(NPC1):c.3185C>T (p.Ala1062Val)
NM_000271.5(NPC1):c.3195C>T (p.Val1065=)
NM_000271.5(NPC1):c.3199G>A (p.Glu1067Lys)
NM_000271.5(NPC1):c.31C>G (p.Leu11Val)
NM_000271.5(NPC1):c.3203C>G (p.Thr1068Ser) rs754323286
NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile) rs754323286
NM_000271.5(NPC1):c.3205A>G (p.Met1069Val) rs1567946736
NM_000271.5(NPC1):c.3210C>T (p.Gly1070=)
NM_000271.5(NPC1):c.3215A>G (p.Asn1072Ser)
NM_000271.5(NPC1):c.321G>A (p.Leu107=) rs2145527281
NM_000271.5(NPC1):c.3222T>C (p.Ser1074=)
NM_000271.5(NPC1):c.3225C>T (p.Ala1075=) rs2058635723
NM_000271.5(NPC1):c.3229C>G (p.Arg1077Gly) rs750095738
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter) rs750095738
NM_000271.5(NPC1):c.3234_3237dup (p.Pro1080fs) rs863224902
NM_000271.5(NPC1):c.3240T>G (p.Pro1080=) rs2058635486
NM_000271.5(NPC1):c.3243C>T (p.Tyr1081=)
NM_000271.5(NPC1):c.3245+12C>T
NM_000271.5(NPC1):c.3245+13dup
NM_000271.5(NPC1):c.3245+7C>T
NM_000271.5(NPC1):c.3245+9T>C
NM_000271.5(NPC1):c.3246-12del
NM_000271.5(NPC1):c.3246-13C>G
NM_000271.5(NPC1):c.3246-13C>T
NM_000271.5(NPC1):c.3246-14C>T
NM_000271.5(NPC1):c.3246-15C>T
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.3246-5_3246-4delinsCT rs2145352088
NM_000271.5(NPC1):c.3246-6C>T
NM_000271.5(NPC1):c.3246-6dup
NM_000271.5(NPC1):c.3246-9C>T rs920214522
NM_000271.5(NPC1):c.3249G>T (p.Val1083=)
NM_000271.5(NPC1):c.3252T>C (p.Phe1084=) rs2145351993
NM_000271.5(NPC1):c.3254_3255del (p.Tyr1085fs) rs2145351971
NM_000271.5(NPC1):c.3255T>C (p.Tyr1085=) rs774602107
NM_000271.5(NPC1):c.3261C>T (p.Phe1087=) rs2145351900
NM_000271.5(NPC1):c.3263A>G (p.Tyr1088Cys) rs28942106
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys) rs374526072
NM_000271.5(NPC1):c.3266A>G (p.Glu1089Gly)
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3281del (p.Ile1094fs)
NM_000271.5(NPC1):c.3283A>G (p.Ile1095Val) rs2145351761
NM_000271.5(NPC1):c.3284T>C (p.Ile1095Thr)
NM_000271.5(NPC1):c.328G>C (p.Glu110Gln) rs2145527241
NM_000271.5(NPC1):c.3291C>G (p.Asp1097Glu)
NM_000271.5(NPC1):c.3291C>T (p.Asp1097=) rs2145351679
NM_000271.5(NPC1):c.3293C>A (p.Thr1098Asn) rs746285672
NM_000271.5(NPC1):c.3294dup (p.Ile1099fs) rs2145351616
NM_000271.5(NPC1):c.3295A>G (p.Ile1099Val)
NM_000271.5(NPC1):c.3297C>A (p.Ile1099=) rs531000417
NM_000271.5(NPC1):c.3299_3300dup (p.Asn1101fs) rs2145351545
NM_000271.5(NPC1):c.3300C>T (p.Phe1100=) rs1567945743
NM_000271.5(NPC1):c.3302A>G (p.Asn1101Ser)
NM_000271.5(NPC1):c.3306C>T (p.Leu1102=) rs756938143
NM_000271.5(NPC1):c.3309T>A (p.Gly1103=) rs1598937342
NM_000271.5(NPC1):c.3315C>T (p.Ser1105=) rs2145351336
NM_000271.5(NPC1):c.3318G>A (p.Leu1106=)
NM_000271.5(NPC1):c.3320dup (p.Ala1108fs) rs2145351287
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=) rs376210355
NM_000271.5(NPC1):c.3321C>T (p.Gly1107=)
NM_000271.5(NPC1):c.3322G>A (p.Ala1108Thr)
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs) rs2145351244
NM_000271.5(NPC1):c.3323C>T (p.Ala1108Val)
NM_000271.5(NPC1):c.3325del (p.Ile1109fs) rs1057517149
NM_000271.5(NPC1):c.3336G>A (p.Val1112=) rs2145351090
NM_000271.5(NPC1):c.3339C>T (p.Thr1113=)
NM_000271.5(NPC1):c.333G>A (p.Leu111=)
NM_000271.5(NPC1):c.333G>C (p.Leu111=)
NM_000271.5(NPC1):c.3350T>A (p.Leu1117Gln)
NM_000271.5(NPC1):c.3354C>T (p.Gly1118=)
NM_000271.5(NPC1):c.3356G>A (p.Cys1119Tyr) rs2058617380
NM_000271.5(NPC1):c.335C>T (p.Thr112Ile)
NM_000271.5(NPC1):c.3363C>G (p.Leu1121=)
NM_000271.5(NPC1):c.336A>G (p.Thr112=)
NM_000271.5(NPC1):c.3373G>T (p.Val1125Phe)
NM_000271.5(NPC1):c.3376A>C (p.Ile1126Leu)
NM_000271.5(NPC1):c.3378C>T (p.Ile1126=) rs777004814
NM_000271.5(NPC1):c.3379_3380del (p.Met1127fs) rs2058616798
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000271.5(NPC1):c.3380T>C (p.Met1127Thr)
NM_000271.5(NPC1):c.3381G>A (p.Met1127Ile) rs2145350601
NM_000271.5(NPC1):c.3387C>T (p.Ala1129=) rs746670383
NM_000271.5(NPC1):c.3396C>T (p.Ala1132=)
NM_000271.5(NPC1):c.339T>C (p.Cys113=)
NM_000271.5(NPC1):c.3406G>A (p.Val1136Ile)
NM_000271.5(NPC1):c.3408C>T (p.Val1136=) rs2145350422
NM_000271.5(NPC1):c.3410A>G (p.Asn1137Ser)
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3413T>C (p.Met1138Thr)
NM_000271.5(NPC1):c.3417T>C (p.Phe1139=) rs2145350366
NM_000271.5(NPC1):c.3419G>T (p.Gly1140Val) rs2058616184
NM_000271.5(NPC1):c.3420A>G (p.Gly1140=) rs2145350342
NM_000271.5(NPC1):c.3423T>G (p.Val1141=) rs2145350308
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3426G>A (p.Met1142Ile)
NM_000271.5(NPC1):c.3432C>T (p.Leu1144=) rs191526202
NM_000271.5(NPC1):c.3433T>C (p.Trp1145Arg) rs2145350224
NM_000271.5(NPC1):c.3435G>C (p.Trp1145Cys)
NM_000271.5(NPC1):c.3436G>A (p.Gly1146Ser)
NM_000271.5(NPC1):c.3445C>T (p.Leu1149=)
NM_000271.5(NPC1):c.3451G>T (p.Ala1151Ser)
NM_000271.5(NPC1):c.3453T>A (p.Ala1151=)
NM_000271.5(NPC1):c.3454G>A (p.Val1152Ile)
NM_000271.5(NPC1):c.3456A>G (p.Val1152=)
NM_000271.5(NPC1):c.3457_3458dup (p.Leu1154fs) rs1263493813
NM_000271.5(NPC1):c.3460_3471del (p.Leu1154_Leu1157del) rs2058614971
NM_000271.5(NPC1):c.3467A>C (p.Asn1156Thr)
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile) rs28942105
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter) rs144973225
NM_000271.5(NPC1):c.3471G>C (p.Leu1157=) rs761086903
NM_000271.5(NPC1):c.3476T>C (p.Met1159Thr)
NM_000271.5(NPC1):c.3477+10C>G
NM_000271.5(NPC1):c.3477+10C>T rs2058614679
NM_000271.5(NPC1):c.3477+12T>C
NM_000271.5(NPC1):c.3477+12T>G
NM_000271.5(NPC1):c.3477+13A>T rs747652954
NM_000271.5(NPC1):c.3477+14_3477+15del
NM_000271.5(NPC1):c.3477+16G>C
NM_000271.5(NPC1):c.3477+17T>C
NM_000271.5(NPC1):c.3477+1G>A rs1405889589
NM_000271.5(NPC1):c.3477+20C>A rs2145349664
NM_000271.5(NPC1):c.3477+20C>T
NM_000271.5(NPC1):c.3477+20_3477+25del
NM_000271.5(NPC1):c.3477+8C>T rs2145349810
NM_000271.5(NPC1):c.3478-11C>A
NM_000271.5(NPC1):c.3478-12G>A
NM_000271.5(NPC1):c.3478-14G>A
NM_000271.5(NPC1):c.3478-15A>C
NM_000271.5(NPC1):c.3478-15A>G
NM_000271.5(NPC1):c.3478-16A>T rs2145344187
NM_000271.5(NPC1):c.3478-17_3478-14del
NM_000271.5(NPC1):c.3478-18G>C
NM_000271.5(NPC1):c.3478-1G>C
NM_000271.5(NPC1):c.3478-3C>T rs2145344067
NM_000271.5(NPC1):c.3478-4T>C
NM_000271.5(NPC1):c.3478-6T>A rs1376131980
NM_000271.5(NPC1):c.3478-8T>C
NM_000271.5(NPC1):c.347G>A (p.Arg116Gln)
NM_000271.5(NPC1):c.3483T>C (p.Cys1161=) rs1598935240
NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu) rs748862167
NM_000271.5(NPC1):c.3495G>A (p.Val1165=)
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
NM_000271.5(NPC1):c.349C>T (p.Gln117Ter) rs2145527075
NM_000271.5(NPC1):c.34C>T (p.Leu12=)
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3502T>G (p.Cys1168Gly)
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.3504C>T (p.Cys1168=) rs2145343803
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg) rs1567977251
NM_000271.5(NPC1):c.350dup (p.Ser118fs) rs2145527060
NM_000271.5(NPC1):c.3511A>G (p.Ile1171Val)
NM_000271.5(NPC1):c.3517dup (p.Arg1173fs) rs1555631982
NM_000271.5(NPC1):c.3525C>A (p.Phe1175Leu) rs2058596241
NM_000271.5(NPC1):c.352_353del (p.Gln119fs) rs759075595
NM_000271.5(NPC1):c.3531G>A (p.Val1177=) rs758582034
NM_000271.5(NPC1):c.3536T>C (p.Met1179Thr)
NM_000271.5(NPC1):c.3540del (p.Gly1181fs)
NM_000271.5(NPC1):c.3543C>A (p.Gly1181=)
NM_000271.5(NPC1):c.3557G>T (p.Arg1186Leu)
NM_000271.5(NPC1):c.3558C>G (p.Arg1186=) rs141659629
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly) rs113371321
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3562G>A (p.Glu1188Lys)
NM_000271.5(NPC1):c.3562G>C (p.Glu1188Gln)
NM_000271.5(NPC1):c.3562G>T (p.Glu1188Ter) rs776701050
NM_000271.5(NPC1):c.3570A>G (p.Ala1190=) rs1410662516
NM_000271.5(NPC1):c.3571C>G (p.Leu1191Val)
NM_000271.5(NPC1):c.3572T>C (p.Leu1191Pro)
NM_000271.5(NPC1):c.3576C>T (p.Ala1192=)
NM_000271.5(NPC1):c.3580A>C (p.Met1194Leu) rs780120393
NM_000271.5(NPC1):c.3580A>G (p.Met1194Val)
NM_000271.5(NPC1):c.3588C>T (p.Ser1196=) rs1417460843
NM_000271.5(NPC1):c.3591+121C>A
NM_000271.5(NPC1):c.3591+121C>T
NM_000271.5(NPC1):c.3591+12G>A
NM_000271.5(NPC1):c.3591+14G>A
NM_000271.5(NPC1):c.3591+14_3591+15dup
NM_000271.5(NPC1):c.3591+16A>G rs781750226
NM_000271.5(NPC1):c.3591+17G>A
NM_000271.5(NPC1):c.3591+17G>C
NM_000271.5(NPC1):c.3591+18G>T
NM_000271.5(NPC1):c.3591+19G>A
NM_000271.5(NPC1):c.3591+20C>T
NM_000271.5(NPC1):c.3591+2T>A rs1555631888
NM_000271.5(NPC1):c.3591+2T>G
NM_000271.5(NPC1):c.3591+2dup rs2145342749
NM_000271.5(NPC1):c.3591+3G>C
NM_000271.5(NPC1):c.3591+9C>G
NM_000271.5(NPC1):c.3592-10C>A
NM_000271.5(NPC1):c.3592-12C>T
NM_000271.5(NPC1):c.3592-14A>C rs781517101
NM_000271.5(NPC1):c.3592-14A>T rs781517101
NM_000271.5(NPC1):c.3592-20C>T
NM_000271.5(NPC1):c.3592-3T>C rs2145336490
NM_000271.5(NPC1):c.3592-4T>C rs2145336521
NM_000271.5(NPC1):c.3592-6T>C
NM_000271.5(NPC1):c.3592-7_3592-5del rs764142835
NM_000271.5(NPC1):c.3592-9T>C
NM_000271.5(NPC1):c.3597C>T (p.Phe1199=)
NM_000271.5(NPC1):c.3597del (p.Phe1199fs) rs2058574038
NM_000271.5(NPC1):c.3605T>C (p.Ile1202Thr)
NM_000271.5(NPC1):c.360T>C (p.Phe120=)
NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs) rs786200879
NM_000271.5(NPC1):c.3612dup (p.Thr1205fs) rs2145336359
NM_000271.5(NPC1):c.3613dup (p.Thr1205fs) rs886041356
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
NM_000271.5(NPC1):c.3634G>A (p.Val1212Met)
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
NM_000271.5(NPC1):c.3645del (p.Phe1215fs)
NM_000271.5(NPC1):c.3647C>T (p.Ala1216Val)
NM_000271.5(NPC1):c.3648C>T (p.Ala1216=)
NM_000271.5(NPC1):c.3651A>G (p.Lys1217=) rs2058572770
NM_000271.5(NPC1):c.3654T>C (p.Ser1218=)
NM_000271.5(NPC1):c.3657A>G (p.Gln1219=)
NM_000271.5(NPC1):c.3658dup (p.Ile1220fs)
NM_000271.5(NPC1):c.3662T>A (p.Phe1221Tyr) rs1266315135
NM_000271.5(NPC1):c.3662del (p.Phe1221fs) rs786200878
NM_000271.5(NPC1):c.3666G>A (p.Gln1222=) rs2058572490
NM_000271.5(NPC1):c.3669A>T (p.Ile1223=)
NM_000271.5(NPC1):c.3670T>C (p.Phe1224Leu)
NM_000271.5(NPC1):c.3678del (p.Phe1226fs) rs2058572084
NM_000271.5(NPC1):c.3679A>C (p.Arg1227=) rs772924731
NM_000271.5(NPC1):c.3679A>G (p.Arg1227Gly) rs772924731
NM_000271.5(NPC1):c.3680G>T (p.Arg1227Met) rs867139443
NM_000271.5(NPC1):c.3681G>A (p.Arg1227=) rs1363776523
NM_000271.5(NPC1):c.3686A>G (p.Tyr1229Cys)
NM_000271.5(NPC1):c.3689del (p.Leu1230fs)
NM_000271.5(NPC1):c.3690G>A (p.Leu1230=) rs2145335755
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=) rs1374064168
NM_000271.5(NPC1):c.36G>A (p.Leu12=) rs1599033687
NM_000271.5(NPC1):c.36GCT[1] (p.Leu15del)
NM_000271.5(NPC1):c.3703C>T (p.Leu1235=) rs2145335698
NM_000271.5(NPC1):c.3705G>T (p.Leu1235=) rs2145335683
NM_000271.5(NPC1):c.3724A>G (p.Ile1242Val)
NM_000271.5(NPC1):c.372A>G (p.Thr124=) rs748125983
NM_000271.5(NPC1):c.3731T>C (p.Leu1244Pro)
NM_000271.5(NPC1):c.3732C>G (p.Leu1244=) rs1621962
NM_000271.5(NPC1):c.3734C>G (p.Pro1245Arg)
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000271.5(NPC1):c.3740dup (p.Leu1247fs)
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.3754+10C>T rs2145335243
NM_000271.5(NPC1):c.3754+11T>C
NM_000271.5(NPC1):c.3754+12C>T
NM_000271.5(NPC1):c.3754+13A>G
NM_000271.5(NPC1):c.3754+13A>T
NM_000271.5(NPC1):c.3754+14T>C
NM_000271.5(NPC1):c.3754+18A>G
NM_000271.5(NPC1):c.3754+19A>C
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.3754+4A>G rs2145335270
NM_000271.5(NPC1):c.3755-12T>C
NM_000271.5(NPC1):c.3755-13C>G
NM_000271.5(NPC1):c.3755-16TC[4] rs760529810
NM_000271.5(NPC1):c.3755-16TC[5] rs760529810
NM_000271.5(NPC1):c.3755-16TC[7] rs760529810
NM_000271.5(NPC1):c.3755-18del
NM_000271.5(NPC1):c.3755-19_3755-18del rs932568903
NM_000271.5(NPC1):c.3755-22_3755-17del rs1309874755
NM_000271.5(NPC1):c.3755-3T>C rs748965235
NM_000271.5(NPC1):c.3755-5C>T
NM_000271.5(NPC1):c.3755-7C>G rs2145326430
NM_000271.5(NPC1):c.3756G>A (p.Gly1252=)
NM_000271.5(NPC1):c.3759A>G (p.Pro1253=)
NM_000271.5(NPC1):c.3762A>G (p.Ser1254=)
NM_000271.5(NPC1):c.3768T>C (p.Asn1256=)
NM_000271.5(NPC1):c.3773C>A (p.Ala1258Asp) rs767400384
NM_000271.5(NPC1):c.3787A>C (p.Thr1263Pro)
NM_000271.5(NPC1):c.3789T>C (p.Thr1263=)
NM_000271.5(NPC1):c.3792A>G (p.Glu1264=)
NM_000271.5(NPC1):c.3797G>T (p.Arg1266Leu)
NM_000271.5(NPC1):c.3797_3798delinsAC (p.Arg1266His) rs2058535881
NM_000271.5(NPC1):c.3798A>C (p.Arg1266=)
NM_000271.5(NPC1):c.379G>C (p.Glu127Gln)
NM_000271.5(NPC1):c.3801C>T (p.Tyr1267=) rs2145325599
NM_000271.5(NPC1):c.3802A>G (p.Lys1268Glu) rs988215442
NM_000271.5(NPC1):c.3813G>A (p.Glu1271=)
NM_000271.5(NPC1):c.3817G>A (p.Glu1273Lys)
NM_000271.5(NPC1):c.3819A>G (p.Glu1273=)
NM_000271.5(NPC1):c.381A>G (p.Glu127=)
NM_000271.5(NPC1):c.3821G>T (p.Arg1274Leu)
NM_000271.5(NPC1):c.3822G>C (p.Arg1274=)
NM_000271.5(NPC1):c.3830A>C (p.Asn1277Thr)
NM_000271.5(NPC1):c.3833T>A (p.Phe1278Tyr)
NM_000271.5(NPC1):c.383A>G (p.Asp128Gly)
NM_000271.5(NPC1):c.387_388inv (p.Val130Ile)
NM_000271.5(NPC1):c.395del (p.Pro132fs) rs1057516462
NM_000271.5(NPC1):c.397G>C (p.Val133Leu) rs2145526753
NM_000271.5(NPC1):c.399T>C (p.Val133=) rs2059163520
NM_000271.5(NPC1):c.39G>A (p.Leu13=)
NM_000271.5(NPC1):c.3G>A (p.Met1Ile) rs1555645630
NM_000271.5(NPC1):c.403A>C (p.Asn135His)
NM_000271.5(NPC1):c.407del (p.Gln136fs)
NM_000271.5(NPC1):c.408G>A (p.Gln136=)
NM_000271.5(NPC1):c.415del (p.Thr139fs)
NM_000271.5(NPC1):c.416C>T (p.Thr139Ile)
NM_000271.5(NPC1):c.420T>C (p.Asn140=) rs369039319
NM_000271.5(NPC1):c.423G>A (p.Val141=)
NM_000271.5(NPC1):c.42_44del (p.Leu15del) rs895660071
NM_000271.5(NPC1):c.430T>G (p.Leu144Val)
NM_000271.5(NPC1):c.432A>G (p.Leu144=)
NM_000271.5(NPC1):c.433C>T (p.Gln145Ter) rs1057516749
NM_000271.5(NPC1):c.435A>G (p.Gln145=) rs746389947
NM_000271.5(NPC1):c.444C>G (p.Val148=) rs899764342
NM_000271.5(NPC1):c.447A>G (p.Gly149=)
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_000271.5(NPC1):c.463+11T>C
NM_000271.5(NPC1):c.463+13T>C
NM_000271.5(NPC1):c.463+13_463+14del rs777614426
NM_000271.5(NPC1):c.463+1G>A
NM_000271.5(NPC1):c.463+2T>G rs2145526252
NM_000271.5(NPC1):c.463+3A>G rs2059162323
NM_000271.5(NPC1):c.463+4_463+5dup rs2145526225
NM_000271.5(NPC1):c.463+7A>G rs2145526194
NM_000271.5(NPC1):c.463+7A>T rs2145526194
NM_000271.5(NPC1):c.463G>T (p.Ala155Ser)
NM_000271.5(NPC1):c.464-10C>G
NM_000271.5(NPC1):c.464-11T>G
NM_000271.5(NPC1):c.464-12T>C
NM_000271.5(NPC1):c.464-12T>G
NM_000271.5(NPC1):c.464-15G>A
NM_000271.5(NPC1):c.464-16G>A
NM_000271.5(NPC1):c.464-17T>C
NM_000271.5(NPC1):c.464-17T>G
NM_000271.5(NPC1):c.464-19T>G
NM_000271.5(NPC1):c.464-2A>C rs2145485704
NM_000271.5(NPC1):c.464-7C>T
NM_000271.5(NPC1):c.464-9C>G rs746194096
NM_000271.5(NPC1):c.467T>G (p.Met156Arg)
NM_000271.5(NPC1):c.473del (p.Asn158fs)
NM_000271.5(NPC1):c.476C>T (p.Ala159Val) rs2059038990
NM_000271.5(NPC1):c.477C>T (p.Ala159=) rs2145485629
NM_000271.5(NPC1):c.480C>T (p.Cys160=)
NM_000271.5(NPC1):c.483G>A (p.Arg161=)
NM_000271.5(NPC1):c.494C>A (p.Ala165Asp) rs1555638953
NM_000271.5(NPC1):c.498C>T (p.Pro166=)
NM_000271.5(NPC1):c.49C>T (p.Pro17Ser)
NM_000271.5(NPC1):c.500C>T (p.Ser167Leu)
NM_000271.5(NPC1):c.501A>T (p.Ser167=) rs202148667
NM_000271.5(NPC1):c.503G>A (p.Ser168Asn) rs2145485415
NM_000271.5(NPC1):c.510C>T (p.Asp170=) rs887908568
NM_000271.5(NPC1):c.525C>A (p.Leu175=)
NM_000271.5(NPC1):c.525C>T (p.Leu175=)
NM_000271.5(NPC1):c.528G>A (p.Leu176=)
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.547G>T (p.Ala183Ser) rs111256741
NM_000271.5(NPC1):c.548C>T (p.Ala183Val)
NM_000271.5(NPC1):c.549C>T (p.Ala183=)
NM_000271.5(NPC1):c.54G>A (p.Ala18=) rs2145603628
NM_000271.5(NPC1):c.54G>T (p.Ala18=)
NM_000271.5(NPC1):c.558C>T (p.Ala186=)
NM_000271.5(NPC1):c.569T>C (p.Ile190Thr) rs1555638862
NM_000271.5(NPC1):c.57+12C>G
NM_000271.5(NPC1):c.57+16C>T
NM_000271.5(NPC1):c.57+19C>A
NM_000271.5(NPC1):c.57+20C>T rs1555645565
NM_000271.5(NPC1):c.57+5G>A rs1425231411
NM_000271.5(NPC1):c.57+7G>T
NM_000271.5(NPC1):c.57+8G>A rs2145603587
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
NM_000271.5(NPC1):c.577A>G (p.Met193Val)
NM_000271.5(NPC1):c.58-14T>C
NM_000271.5(NPC1):c.58-15G>A
NM_000271.5(NPC1):c.58-15G>T
NM_000271.5(NPC1):c.58-16T>C
NM_000271.5(NPC1):c.58-7del rs2145552580
NM_000271.5(NPC1):c.584A>T (p.Asn195Ile)
NM_000271.5(NPC1):c.585T>C (p.Asn195=)
NM_000271.5(NPC1):c.588G>A (p.Lys196=) rs2145484736
NM_000271.5(NPC1):c.594T>C (p.Asn198=) rs2145484696
NM_000271.5(NPC1):c.597A>G (p.Gly199=)
NM_000271.5(NPC1):c.606T>C (p.Pro202=) rs1598986724
NM_000271.5(NPC1):c.60G>A (p.Val20=)
NM_000271.5(NPC1):c.610A>G (p.Thr204Ala)
NM_000271.5(NPC1):c.616_619del (p.Thr206fs)
NM_000271.5(NPC1):c.619C>T (p.Pro207Ser)
NM_000271.5(NPC1):c.620C>T (p.Pro207Leu)
NM_000271.5(NPC1):c.622G>T (p.Val208Leu)
NM_000271.5(NPC1):c.631+10A>G rs2145484423
NM_000271.5(NPC1):c.631+13A>G
NM_000271.5(NPC1):c.631+16C>G
NM_000271.5(NPC1):c.631+16C>T
NM_000271.5(NPC1):c.631+18A>G
NM_000271.5(NPC1):c.631+1G>T
NM_000271.5(NPC1):c.631+20G>C rs761048830
NM_000271.5(NPC1):c.631G>A (p.Asp211Asn)
NM_000271.5(NPC1):c.631G>T (p.Asp211Tyr)
NM_000271.5(NPC1):c.632-10C>T rs952084518
NM_000271.5(NPC1):c.632-11C>G
NM_000271.5(NPC1):c.632-16C>T
NM_000271.5(NPC1):c.632-4G>A rs757177354
NM_000271.5(NPC1):c.632-5T>A
NM_000271.5(NPC1):c.632-5T>C rs2145481075
NM_000271.5(NPC1):c.632-6C>T
NM_000271.5(NPC1):c.63T>G (p.Phe21Leu) rs2145552491
NM_000271.5(NPC1):c.642C>T (p.Val214=)
NM_000271.5(NPC1):c.644del (p.His215fs) rs2145481013
NM_000271.5(NPC1):c.645T>C (p.His215=)
NM_000271.5(NPC1):c.646G>A (p.Gly216Arg)
NM_000271.5(NPC1):c.652G>C (p.Glu218Gln) rs972514142
NM_000271.5(NPC1):c.652del (p.Glu218fs)
NM_000271.5(NPC1):c.657C>T (p.Pro219=) rs760983826
NM_000271.5(NPC1):c.65C>G (p.Ser22Ter)
NM_000271.5(NPC1):c.668C>G (p.Ala223Gly) rs2145480831
NM_000271.5(NPC1):c.669C>A (p.Ala223=)
NM_000271.5(NPC1):c.672C>T (p.Thr224=)
NM_000271.5(NPC1):c.678C>T (p.Gly226=)
NM_000271.5(NPC1):c.681T>C (p.Cys227=) rs2059021939
NM_000271.5(NPC1):c.687G>A (p.Glu229=) rs1229968387
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000271.5(NPC1):c.6C>G (p.Thr2=)
NM_000271.5(NPC1):c.702C>T (p.Val234=)
NM_000271.5(NPC1):c.705A>G (p.Thr235=)
NM_000271.5(NPC1):c.711A>G (p.Pro237=)
NM_000271.5(NPC1):c.720C>T (p.Cys240=)
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000271.5(NPC1):c.723A>G (p.Gln241=) rs1445528921
NM_000271.5(NPC1):c.728G>C (p.Cys243Ser)
NM_000271.5(NPC1):c.734T>C (p.Ile245Thr)
NM_000271.5(NPC1):c.735T>C (p.Ile245=) rs2145480361
NM_000271.5(NPC1):c.736G>A (p.Val246Ile)
NM_000271.5(NPC1):c.738C>T (p.Val246=)
NM_000271.5(NPC1):c.741T>C (p.Cys247=) rs2145480310
NM_000271.5(NPC1):c.741_742del (p.Cys247fs)
NM_000271.5(NPC1):c.743G>A (p.Gly248Asp)
NM_000271.5(NPC1):c.746C>G (p.Pro249Arg)
NM_000271.5(NPC1):c.749A>G (p.Lys250Arg)
NM_000271.5(NPC1):c.750_763dup (p.Pro255fs)
NM_000271.5(NPC1):c.752C>G (p.Pro251Arg)
NM_000271.5(NPC1):c.753C>A (p.Pro251=)
NM_000271.5(NPC1):c.753C>G (p.Pro251=)
NM_000271.5(NPC1):c.756G>C (p.Gln252His) rs768008295
NM_000271.5(NPC1):c.758C>T (p.Pro253Leu) rs2145480194
NM_000271.5(NPC1):c.760C>G (p.Pro254Ala) rs2059020379
NM_000271.5(NPC1):c.761C>A (p.Pro254Gln) rs752145311
NM_000271.5(NPC1):c.764C>G (p.Pro255Arg)
NM_000271.5(NPC1):c.765T>A (p.Pro255=)
NM_000271.5(NPC1):c.771T>G (p.Pro257=) rs769403499
NM_000271.5(NPC1):c.782C>T (p.Thr261Met)
NM_000271.5(NPC1):c.783G>C (p.Thr261=) rs770731602
NM_000271.5(NPC1):c.789T>C (p.Leu263=)
NM_000271.5(NPC1):c.792C>G (p.Gly264=)
NM_000271.5(NPC1):c.792C>T (p.Gly264=)
NM_000271.5(NPC1):c.793T>C (p.Leu265=)
NM_000271.5(NPC1):c.801C>T (p.Ala267=)
NM_000271.5(NPC1):c.806A>G (p.Tyr269Cys)
NM_000271.5(NPC1):c.808G>A (p.Val270Ile)
NM_000271.5(NPC1):c.80G>A (p.Trp27Ter)
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.811A>G (p.Ile271Val)
NM_000271.5(NPC1):c.815T>C (p.Met272Thr)
NM_000271.5(NPC1):c.81G>A (p.Trp27Ter) rs2059233403
NM_000271.5(NPC1):c.825C>T (p.Thr275=) rs1291859932
NM_000271.5(NPC1):c.828C>T (p.Tyr276=) rs2145479742
NM_000271.5(NPC1):c.829A>G (p.Met277Val)
NM_000271.5(NPC1):c.833C>T (p.Ala278Val)
NM_000271.5(NPC1):c.846G>A (p.Val282=)
NM_000271.5(NPC1):c.846G>T (p.Val282=)
NM_000271.5(NPC1):c.846_847del (p.Phe284fs)
NM_000271.5(NPC1):c.84T>C (p.Tyr28=) rs2145552359
NM_000271.5(NPC1):c.852T>C (p.Phe284=) rs2145479572
NM_000271.5(NPC1):c.852del (p.Phe284fs) rs762124334
NM_000271.5(NPC1):c.852dup (p.Gly285fs) rs762124334
NM_000271.5(NPC1):c.85G>T (p.Gly29Ter) rs2145552346
NM_000271.5(NPC1):c.861T>C (p.Phe287=)
NM_000271.5(NPC1):c.864del (p.Phe288fs)
NM_000271.5(NPC1):c.866C>G (p.Ala289Gly)
NM_000271.5(NPC1):c.881+15T>C
NM_000271.5(NPC1):c.881+15_881+18del
NM_000271.5(NPC1):c.881+1G>A
NM_000271.5(NPC1):c.882-18_882-16del
NM_000271.5(NPC1):c.882-19C>T
NM_000271.5(NPC1):c.882-20T>G
NM_000271.5(NPC1):c.882-9G>T rs1598978686
NM_000271.5(NPC1):c.882-9del
NM_000271.5(NPC1):c.887G>T (p.Arg296Leu)
NM_000271.5(NPC1):c.890A>G (p.Tyr297Cys) rs776844130
NM_000271.5(NPC1):c.895G>C (p.Val299Leu) rs1032415844
NM_000271.5(NPC1):c.899C>G (p.Ser300Cys) rs2058966735
NM_000271.5(NPC1):c.8C>T (p.Ala3Val)
NM_000271.5(NPC1):c.907A>T (p.Thr303Ser)
NM_000271.5(NPC1):c.909T>C (p.Thr303=)
NM_000271.5(NPC1):c.90G>A (p.Glu30=) rs1273070261
NM_000271.5(NPC1):c.922A>C (p.Asn308His)
NM_000271.5(NPC1):c.924T>C (p.Asn308=)
NM_000271.5(NPC1):c.925A>G (p.Ile309Val)
NM_000271.5(NPC1):c.934T>C (p.Ser312Pro)
NM_000271.5(NPC1):c.942T>C (p.Asn314=) rs2058965486
NM_000271.5(NPC1):c.947G>A (p.Ser316Asn) rs1018014075
NM_000271.5(NPC1):c.94_97dup (p.Ile33fs) rs2145552247
NM_000271.5(NPC1):c.951C>T (p.Asp317=) rs779526299
NM_000271.5(NPC1):c.955+17A>G
NM_000271.5(NPC1):c.955+18T>C
NM_000271.5(NPC1):c.955+19G>A rs2145461537
NM_000271.5(NPC1):c.955+4G>A
NM_000271.5(NPC1):c.955+7A>G
NM_000271.5(NPC1):c.955+8T>C
NM_000271.5(NPC1):c.956-12C>T
NM_000271.5(NPC1):c.956-14_956-13del
NM_000271.5(NPC1):c.956-16T>C
NM_000271.5(NPC1):c.956-17C>T
NM_000271.5(NPC1):c.956-1G>T
NM_000271.5(NPC1):c.956-4C>A rs2145458780
NM_000271.5(NPC1):c.956-4C>G rs2145458780
NM_000271.5(NPC1):c.956-7C>T rs537484682
NM_000271.5(NPC1):c.958G>A (p.Glu320Lys)
NM_000271.5(NPC1):c.960G>A (p.Glu320=)
NM_000271.5(NPC1):c.963G>T (p.Ala321=)
NM_000271.5(NPC1):c.966C>G (p.Ser322=) rs61731965
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_000271.5(NPC1):c.972T>C (p.Cys324=)
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580
NM_000271.5(NPC1):c.975C>T (p.Asp325=)
NM_000271.5(NPC1):c.978T>C (p.Pro326=) rs2145458556
NM_000271.5(NPC1):c.978del (p.Val327fs)
NM_000271.5(NPC1):c.981C>T (p.Val327=)
NM_000271.5(NPC1):c.984C>T (p.Ser328=) rs760861487
NM_000271.5(NPC1):c.998G>A (p.Gly333Asp) rs2058955343
NM_000271.5(NPC1):c.999C>T (p.Gly333=)
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del) rs3838786
NM_000543.5(SMPD1):c.100G>A (p.Gly34Ser)
NM_000543.5(SMPD1):c.1011_1012del (p.Asn337fs)
NM_000543.5(SMPD1):c.1020C>T (p.Ser340=) rs1590740483
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His) rs200242334
NM_000543.5(SMPD1):c.1022G>C (p.Arg341Pro)
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter) rs1470998208
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys) rs281860668
NM_000543.5(SMPD1):c.1032T>G (p.Tyr344Ter) rs2134013121
NM_000543.5(SMPD1):c.1038G>A (p.Ala346=) rs781107025
NM_000543.5(SMPD1):c.1038G>T (p.Ala346=) rs781107025
NM_000543.5(SMPD1):c.103_107del (p.Leu35fs)
NM_000543.5(SMPD1):c.1044C>T (p.Ala348=) rs555187617
NM_000543.5(SMPD1):c.1055A>C (p.Glu352Ala) rs771028947
NM_000543.5(SMPD1):c.1059C>A (p.Pro353=) rs1444697663
NM_000543.5(SMPD1):c.105G>C (p.Leu35=) rs2134005231
NM_000543.5(SMPD1):c.106G>T (p.Val36Leu)
NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu) rs1554933800
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu) rs1554933800
NM_000543.5(SMPD1):c.106dup (p.Val36fs) rs1590735238
NM_000543.5(SMPD1):c.1071C>G (p.Ala357=)
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp) rs797044800
NM_000543.5(SMPD1):c.1076C>T (p.Ala359Val) rs797044800
NM_000543.5(SMPD1):c.1077C>T (p.Ala359=)
NM_000543.5(SMPD1):c.107CGCTGG[3] (p.Leu35_Val36insAlaLeuAlaLeuAlaLeu)
NM_000543.5(SMPD1):c.107_108delinsCT (p.Val36Ala) rs2134005319
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del) rs775860642
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del) rs550365194
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) rs794726889
NM_000543.5(SMPD1):c.107_130del (p.Val36_Leu43del) rs550067660
NM_000543.5(SMPD1):c.107_136dup (p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu)
NM_000543.5(SMPD1):c.1083C>A (p.Arg361=)
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg) rs2134013368
NM_000543.5(SMPD1):c.108G>T (p.Val36=)
NM_000543.5(SMPD1):c.108GCTGGC[2] (p.38AL[2])
NM_000543.5(SMPD1):c.108GCTGGC[4] (p.38AL[4]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.108_109insGCG (p.Val36_Leu37insAla) rs775568984
NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.1091+12C>A
NM_000543.5(SMPD1):c.1091+13C>G
NM_000543.5(SMPD1):c.1091+14G>A
NM_000543.5(SMPD1):c.1091+1G>A rs1847955457
NM_000543.5(SMPD1):c.1091+20A>T
NM_000543.5(SMPD1):c.1091+8T>G rs1564924727
NM_000543.5(SMPD1):c.1091+8del rs1475406727
NM_000543.5(SMPD1):c.1091+9C>G rs143612450
NM_000543.5(SMPD1):c.1092-10_1092-3dup
NM_000543.5(SMPD1):c.1092-14T>A
NM_000543.5(SMPD1):c.1092-18_1092-17del
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1092-7G>A rs1848012858
NM_000543.5(SMPD1):c.1092-9T>C
NM_000543.5(SMPD1):c.1098G>A (p.Gly366=)
NM_000543.5(SMPD1):c.1098G>C (p.Gly366=)
NM_000543.5(SMPD1):c.1101G>A (p.Gly367=)
NM_000543.5(SMPD1):c.1101G>C (p.Gly367=) rs1302267359
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
NM_000543.5(SMPD1):c.1107_1110dup (p.Leu371fs)
NM_000543.5(SMPD1):c.1108dup (p.Ala370fs) rs1590743683
NM_000543.5(SMPD1):c.110_116del (p.Leu37fs) rs1847863441
NM_000543.5(SMPD1):c.1110T>C (p.Ala370=) rs2134017024
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs) rs786204514
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser) rs1342372980
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter) rs1848015403
NM_000543.5(SMPD1):c.1122C>T (p.Tyr374=) rs1848015403
NM_000543.5(SMPD1):c.1125C>G (p.Pro375=)
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
NM_000543.5(SMPD1):c.1132C>T (p.Arg378Cys) rs369088417
NM_000543.5(SMPD1):c.1137C>T (p.Leu379=) rs1848016999
NM_000543.5(SMPD1):c.113C>A (p.Ala38Glu) rs71467507
NM_000543.5(SMPD1):c.113C>T (p.Ala38Val) rs71467507
NM_000543.5(SMPD1):c.1141T>C (p.Ser381Pro)
NM_000543.5(SMPD1):c.1144C>G (p.Leu382Val)
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe) rs281860666
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.1149T>C (p.Asn383=)
NM_000543.5(SMPD1):c.114G>T (p.Ala38=) rs1195507316
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) rs120074123
NM_000543.5(SMPD1):c.1154A>T (p.Asn385Ile)
NM_000543.5(SMPD1):c.115C>T (p.Leu39=) rs1847864154
NM_000543.5(SMPD1):c.1167T>C (p.Arg389=) rs1162794351
NM_000543.5(SMPD1):c.1168G>C (p.Glu390Gln)
NM_000543.5(SMPD1):c.1168G>T (p.Glu390Ter)
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) rs120074125
NM_000543.5(SMPD1):c.1179G>A (p.Trp393Ter)
NM_000543.5(SMPD1):c.1182C>A (p.Leu394=) rs2134017489
NM_000543.5(SMPD1):c.1191C>T (p.Asn397=) rs766418804
NM_000543.5(SMPD1):c.1194C>T (p.Ser398=) rs967970847
NM_000543.5(SMPD1):c.1201C>G (p.Pro401Ala)
NM_000543.5(SMPD1):c.1203C>G (p.Pro401=)
NM_000543.5(SMPD1):c.1204G>A (p.Ala402Thr)
NM_000543.5(SMPD1):c.1206A>G (p.Ala402=) rs2134017637
NM_000543.5(SMPD1):c.120G>T (p.Ala40=)
NM_000543.5(SMPD1):c.1216C>T (p.Gln406Ter) rs2134017711
NM_000543.5(SMPD1):c.1221G>A (p.Trp407Ter)
NM_000543.5(SMPD1):c.1222_1225dup (p.Val409fs)
NM_000543.5(SMPD1):c.1224G>A (p.Leu408=) rs1448718304
NM_000543.5(SMPD1):c.1227G>A (p.Val409=) rs768283171
NM_000543.5(SMPD1):c.1227G>C (p.Val409=) rs768283171
NM_000543.5(SMPD1):c.1227G>T (p.Val409=) rs768283171
NM_000543.5(SMPD1):c.1242T>A (p.Ala414=)
NM_000543.5(SMPD1):c.1251T>C (p.Asp417=) rs2134017998
NM_000543.5(SMPD1):c.1254A>G (p.Arg418=) rs2134018038
NM_000543.5(SMPD1):c.1257A>C (p.Gly419=) rs2134018068
NM_000543.5(SMPD1):c.1263+1G>A rs2134018090
NM_000543.5(SMPD1):c.1263+9C>T
NM_000543.5(SMPD1):c.1264-10T>C rs2134019281
NM_000543.5(SMPD1):c.1264-14del
NM_000543.5(SMPD1):c.1264-19C>G
NM_000543.5(SMPD1):c.1264-1G>A rs1057516454
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1264-2A>G rs774309925
NM_000543.5(SMPD1):c.1264-4C>T
NM_000543.5(SMPD1):c.1264-5A>G rs538875655
NM_000543.5(SMPD1):c.1264-7del rs2134019299
NM_000543.5(SMPD1):c.1264-9C>T
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)
NM_000543.5(SMPD1):c.126G>T (p.Ala42=)
NM_000543.5(SMPD1):c.1271_1272del (p.Ile424fs)
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) rs1554935136
NM_000543.5(SMPD1):c.1279C>A (p.His427Asn) rs760930408
NM_000543.5(SMPD1):c.1279C>T (p.His427Tyr)
NM_000543.5(SMPD1):c.1280A>T (p.His427Leu) rs794727629
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu) rs281860669
NM_000543.5(SMPD1):c.1288C>G (p.Pro430Ala)
NM_000543.5(SMPD1):c.1288C>T (p.Pro430Ser) rs140688153
NM_000543.5(SMPD1):c.1289C>T (p.Pro430Leu)
NM_000543.5(SMPD1):c.1290A>G (p.Pro430=)
NM_000543.5(SMPD1):c.1304dup (p.Ser436fs)
NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter) rs1848043657
NM_000543.5(SMPD1):c.1312dup (p.Ser438fs)
NM_000543.5(SMPD1):c.1316G>A (p.Trp439Ter)
NM_000543.5(SMPD1):c.1320TTA[1] (p.Tyr442del)
NM_000543.5(SMPD1):c.1323T>C (p.Tyr441=) rs2134019686
NM_000543.5(SMPD1):c.1327C>A (p.Arg443=)
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.1328G>C (p.Arg443Pro) rs377609894
NM_000543.5(SMPD1):c.1328G>T (p.Arg443Leu) rs377609894
NM_000543.5(SMPD1):c.1331T>A (p.Ile444Asn)
NM_000543.5(SMPD1):c.1333G>A (p.Val445Ile)
NM_000543.5(SMPD1):c.1340+11G>T
NM_000543.5(SMPD1):c.1340+17G>C
NM_000543.5(SMPD1):c.1340+18G>A
NM_000543.5(SMPD1):c.1340+20G>A
NM_000543.5(SMPD1):c.1340+2T>C
NM_000543.5(SMPD1):c.1340+2T>G rs1301641750
NM_000543.5(SMPD1):c.1340+2_1340+9del
NM_000543.5(SMPD1):c.1340+9G>C rs2134019834
NM_000543.5(SMPD1):c.1341-12C>T
NM_000543.5(SMPD1):c.1341-13A>G
NM_000543.5(SMPD1):c.1341-15del
NM_000543.5(SMPD1):c.1341-19T>C
NM_000543.5(SMPD1):c.1341-20A>G
NM_000543.5(SMPD1):c.1341-21_1341-18del
NM_000543.5(SMPD1):c.1341-22G>C
NM_000543.5(SMPD1):c.1341-6G>T rs2134020897
NM_000543.5(SMPD1):c.1341-7T>C
NM_000543.5(SMPD1):c.1345_1348dup (p.Asn450fs)
NM_000543.5(SMPD1):c.1354C>G (p.Leu452Val) rs2134021009
NM_000543.5(SMPD1):c.1354dup (p.Leu452fs)
NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp)
NM_000543.5(SMPD1):c.135G>A (p.Leu45=)
NM_000543.5(SMPD1):c.135G>T (p.Leu45=) rs150867628
NM_000543.5(SMPD1):c.1363C>T (p.Gln455Ter) rs2134021058
NM_000543.5(SMPD1):c.1371T>C (p.Phe457=) rs765658453
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro) rs794727705
NM_000543.5(SMPD1):c.1380del (p.His461fs) rs1848061158
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) rs748411156
NM_000543.5(SMPD1):c.1386G>C (p.Val462=) rs763521056
NM_000543.5(SMPD1):c.138G>A (p.Ala46=) rs200763765
NM_000543.5(SMPD1):c.138G>C (p.Ala46=) rs200763765
NM_000543.5(SMPD1):c.1393T>C (p.Phe465Leu) rs1258231226
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser) rs1319643225
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu) rs1848061944
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser) rs267607074
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys) rs267607074
NM_000543.5(SMPD1):c.1407T>C (p.Tyr469=) rs2134021313
NM_000543.5(SMPD1):c.1410T>A (p.Asp470Glu)
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs) rs398123476
NM_000543.5(SMPD1):c.1422G>A (p.Leu474=)
NM_000543.5(SMPD1):c.1426C>A (p.Arg476=) rs182812968
NM_000543.5(SMPD1):c.1430C>A (p.Pro477Gln) rs753508874
NM_000543.5(SMPD1):c.1440A>C (p.Val480=)
NM_000543.5(SMPD1):c.1443C>T (p.Ala481=)
NM_000543.5(SMPD1):c.1447C>T (p.Leu483=)
NM_000543.5(SMPD1):c.1449G>A (p.Leu483=)
NM_000543.5(SMPD1):c.144T>G (p.Ala48=)
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1451C>T (p.Ala484Val)
NM_000543.5(SMPD1):c.1457G>A (p.Ser486Asn) rs2134021618
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
NM_000543.5(SMPD1):c.1464T>A (p.Thr488=) rs2134021666
NM_000543.5(SMPD1):c.1467C>G (p.Thr489=)
NM_000543.5(SMPD1):c.1467C>T (p.Thr489=) rs1848065214
NM_000543.5(SMPD1):c.1470C>T (p.Tyr490=) rs1848065468
NM_000543.5(SMPD1):c.1473C>A (p.Ile491=)
NM_000543.5(SMPD1):c.1474G>C (p.Gly492Arg)
NM_000543.5(SMPD1):c.147G>A (p.Leu49=)
NM_000543.5(SMPD1):c.1486+10G>A rs2134021948
NM_000543.5(SMPD1):c.1486+11dup
NM_000543.5(SMPD1):c.1486+13G>T
NM_000543.5(SMPD1):c.1486+17G>T
NM_000543.5(SMPD1):c.1486+18G>C
NM_000543.5(SMPD1):c.1486+19A>G
NM_000543.5(SMPD1):c.1486+1G>T
NM_000543.5(SMPD1):c.1486+5G>C
NM_000543.5(SMPD1):c.1486+7G>A rs748435634
NM_000543.5(SMPD1):c.1486+9G>A
NM_000543.5(SMPD1):c.1487-11C>T
NM_000543.5(SMPD1):c.1487-13C>T
NM_000543.5(SMPD1):c.1487-14C>G
NM_000543.5(SMPD1):c.1487-15C>T
NM_000543.5(SMPD1):c.1487-19C>A
NM_000543.5(SMPD1):c.1487-19C>T
NM_000543.5(SMPD1):c.1487-4_1499del
NM_000543.5(SMPD1):c.1487-5T>C
NM_000543.5(SMPD1):c.1488T>C (p.Gly496=)
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.1492C>A (p.Arg498Ser)
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1493G>C (p.Arg498Pro) rs120074117
NM_000543.5(SMPD1):c.1497_1498inv (p.Tyr500His)
NM_000543.5(SMPD1):c.1507G>A (p.Asp503Asn)
NM_000543.5(SMPD1):c.1509T>C (p.Asp503=)
NM_000543.5(SMPD1):c.150T>C (p.Ser50=) rs1847868322
NM_000543.5(SMPD1):c.1515C>T (p.Asn505=)
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.1518C>T (p.Tyr506=)
NM_000543.5(SMPD1):c.1519_1520del (p.Ser507fs)
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_000543.5(SMPD1):c.1521C>G (p.Ser507=) rs149423664
NM_000543.5(SMPD1):c.1524G>A (p.Gly508=) rs1312013224
NM_000543.5(SMPD1):c.1533C>T (p.His511=) rs540422105
NM_000543.5(SMPD1):c.1539C>T (p.Val513=) rs368806984
NM_000543.5(SMPD1):c.153C>T (p.Asp51=)
NM_000543.5(SMPD1):c.1542G>C (p.Leu514=)
NM_000543.5(SMPD1):c.1545C>T (p.Asp515=) rs2134023030
NM_000543.5(SMPD1):c.1546C>T (p.His516Tyr)
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg) rs754979734
NM_000543.5(SMPD1):c.1547A>T (p.His516Leu)
NM_000543.5(SMPD1):c.1548T>C (p.His516=) rs1590747902
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln) rs1590747902
NM_000543.5(SMPD1):c.1554C>T (p.Thr518=)
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.5(SMPD1):c.1557C>A (p.Tyr519Ter)
NM_000543.5(SMPD1):c.1557C>T (p.Tyr519=) rs756192072
NM_000543.5(SMPD1):c.1563G>A (p.Leu521=) rs749496647
NM_000543.5(SMPD1):c.1567C>T (p.Leu523=)
NM_000543.5(SMPD1):c.1569G>C (p.Leu523=) rs1848085572
NM_000543.5(SMPD1):c.156T>C (p.Ser52=)
NM_000543.5(SMPD1):c.156dup (p.Arg53fs)
NM_000543.5(SMPD1):c.1572C>G (p.Thr524=) rs376815723
NM_000543.5(SMPD1):c.1572C>T (p.Thr524=)
NM_000543.5(SMPD1):c.1576del (p.Ala526fs) rs2134023240
NM_000543.5(SMPD1):c.1581C>T (p.Asn527=)
NM_000543.5(SMPD1):c.1583_1584del (p.Ile528fs) rs1848086376
NM_000543.5(SMPD1):c.1589del (p.Gly530fs)
NM_000543.5(SMPD1):c.1592C>G (p.Ala531Gly) rs2134023371
NM_000543.5(SMPD1):c.1595T>C (p.Ile532Thr)
NM_000543.5(SMPD1):c.1608G>A (p.Gln536=) rs886048447
NM_000543.5(SMPD1):c.1616A>G (p.Tyr539Cys)
NM_000543.5(SMPD1):c.1617C>T (p.Tyr539=) rs1181161932
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.162T>C (p.Val54=)
NM_000543.5(SMPD1):c.1630del (p.Thr544fs) rs770962157
NM_000543.5(SMPD1):c.1635T>C (p.Tyr545=) rs1403217094
NM_000543.5(SMPD1):c.1638G>A (p.Gly546=)
NM_000543.5(SMPD1):c.1641G>A (p.Leu547=)
NM_000543.5(SMPD1):c.1643_1644insA (p.Asn549fs) rs2134023663
NM_000543.5(SMPD1):c.1644C>A (p.Pro548=) rs2134023668
NM_000543.5(SMPD1):c.1644C>T (p.Pro548=) rs2134023668
NM_000543.5(SMPD1):c.1647C>T (p.Asn549=) rs1380885433
NM_000543.5(SMPD1):c.164T>A (p.Leu55His)
NM_000543.5(SMPD1):c.1662C>T (p.Ala554=) rs2134023747
NM_000543.5(SMPD1):c.1666C>T (p.His556Tyr)
NM_000543.5(SMPD1):c.1672C>T (p.Leu558=) rs772613617
NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro) rs875989836
NM_000543.5(SMPD1):c.1674G>A (p.Leu558=)
NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter) rs2134006149
NM_000543.5(SMPD1):c.1683C>T (p.Arg561=)
NM_000543.5(SMPD1):c.1688G>A (p.Arg563Gln)
NM_000543.5(SMPD1):c.1693G>A (p.Asp565Asn)
NM_000543.5(SMPD1):c.1710G>A (p.Gln570=) rs767055403
NM_000543.5(SMPD1):c.1713C>T (p.Thr571=) rs1590748569
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.171T>C (p.Ala57=)
NM_000543.5(SMPD1):c.1720T>G (p.Phe574Val)
NM_000543.5(SMPD1):c.1728C>T (p.Tyr576=)
NM_000543.5(SMPD1):c.1729C>T (p.His577Tyr)
NM_000543.5(SMPD1):c.1730A>T (p.His577Leu)
NM_000543.5(SMPD1):c.1734G>A (p.Lys578=)
NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)
NM_000543.5(SMPD1):c.1736G>T (p.Gly579Val)
NM_000543.5(SMPD1):c.1740C>T (p.His580=)
NM_000543.5(SMPD1):c.174G>C (p.Pro58=)
NM_000543.5(SMPD1):c.175del (p.Ala59fs) rs2134006179
NM_000543.5(SMPD1):c.1761C>T (p.Gly587=)
NM_000543.5(SMPD1):c.1763C>A (p.Thr588Lys)
NM_000543.5(SMPD1):c.1770C>T (p.Cys590=) rs1590748718
NM_000543.5(SMPD1):c.1773T>A (p.Arg591=)
NM_000543.5(SMPD1):c.1776G>A (p.Leu592=)
NM_000543.5(SMPD1):c.1776G>T (p.Leu592=) rs1848098515
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs) rs1437508852
NM_000543.5(SMPD1):c.1785T>G (p.Leu595=) rs2134024361
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs) rs1057516403
NM_000543.5(SMPD1):c.1791C>T (p.Ala597=) rs2134024385
NM_000543.5(SMPD1):c.1792C>T (p.Gln598Ter)
NM_000543.5(SMPD1):c.1804del (p.Arg602fs) rs1848099900
NM_000543.5(SMPD1):c.1806T>C (p.Arg602=) rs1320920094
NM_000543.5(SMPD1):c.1809T>A (p.Ala603=)
NM_000543.5(SMPD1):c.1815C>T (p.Ser605=) rs2134024538
NM_000543.5(SMPD1):c.1821T>A (p.Ala607=) rs1564928040
NM_000543.5(SMPD1):c.1822_1825dup (p.Cys609fs)
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)
NM_000543.5(SMPD1):c.1829G>A (p.Arg610His)
NM_000543.5(SMPD1):c.1830C>A (p.Arg610=)
NM_000543.5(SMPD1):c.1854C>T (p.Leu618=)
NM_000543.5(SMPD1):c.186C>T (p.His62=) rs1235402970
NM_000543.5(SMPD1):c.1881G>A (p.Arg627=)
NM_000543.5(SMPD1):c.1881G>T (p.Arg627Ser)
NM_000543.5(SMPD1):c.1887G>A (p.Leu629=)
NM_000543.5(SMPD1):c.1890T>C (p.Phe630=) rs1848105786
NM_000543.5(SMPD1):c.193del (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.193dup (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.208_227del (p.Pro70fs) rs2134006350
NM_000543.5(SMPD1):c.210T>C (p.Pro70=)
NM_000543.5(SMPD1):c.213C>T (p.Ala71=)
NM_000543.5(SMPD1):c.215G>T (p.Arg72Met)
NM_000543.5(SMPD1):c.225C>G (p.Arg75=)
NM_000543.5(SMPD1):c.234C>G (p.Pro78=)
NM_000543.5(SMPD1):c.248del (p.Val83fs)
NM_000543.5(SMPD1):c.24C>A (p.Leu8=)
NM_000543.5(SMPD1):c.255G>A (p.Gly85=) rs1554933929
NM_000543.5(SMPD1):c.255G>C (p.Gly85=) rs1554933929
NM_000543.5(SMPD1):c.262_311del (p.Asn88fs)
NM_000543.5(SMPD1):c.272G>A (p.Cys91Tyr)
NM_000543.5(SMPD1):c.273C>T (p.Cys91=) rs1847877445
NM_000543.5(SMPD1):c.276A>G (p.Pro92=) rs2134006684
NM_000543.5(SMPD1):c.277A>G (p.Ile93Val) rs913533196
NM_000543.5(SMPD1):c.285A>G (p.Lys95=)
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
NM_000543.5(SMPD1):c.297C>T (p.Thr99=) rs146630228
NM_000543.5(SMPD1):c.299C>A (p.Ala100Asp) rs2134006790
NM_000543.5(SMPD1):c.299C>T (p.Ala100Val)
NM_000543.5(SMPD1):c.301del (p.Ile101fs)
NM_000543.5(SMPD1):c.309C>G (p.Leu103=) rs1847879646
NM_000543.5(SMPD1):c.309C>T (p.Leu103=)
NM_000543.5(SMPD1):c.30G>A (p.Gln10=) rs1847855057
NM_000543.5(SMPD1):c.312G>A (p.Gly104=) rs757958025
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.315G>A (p.Leu105=) rs2134006862
NM_000543.5(SMPD1):c.315G>C (p.Leu105=) rs2134006862
NM_000543.5(SMPD1):c.318+13G>C
NM_000543.5(SMPD1):c.318+20C>T
NM_000543.5(SMPD1):c.318+2T>C rs1225462507
NM_000543.5(SMPD1):c.318+7A>C rs747913628
NM_000543.5(SMPD1):c.318+7A>G rs747913628
NM_000543.5(SMPD1):c.318+7A>T rs747913628
NM_000543.5(SMPD1):c.319-12C>T
NM_000543.5(SMPD1):c.319-13C>G
NM_000543.5(SMPD1):c.319-16G>A
NM_000543.5(SMPD1):c.319-16dup
NM_000543.5(SMPD1):c.319-17C>G
NM_000543.5(SMPD1):c.319-17C>T
NM_000543.5(SMPD1):c.319-20A>G
NM_000543.5(SMPD1):c.319-2A>G
NM_000543.5(SMPD1):c.319-7A>G rs757091200
NM_000543.5(SMPD1):c.319-9C>T
NM_000543.5(SMPD1):c.333G>A (p.Val111=) rs2134008523
NM_000543.5(SMPD1):c.339C>A (p.Arg113=)
NM_000543.5(SMPD1):c.339C>G (p.Arg113=)
NM_000543.5(SMPD1):c.33C>T (p.Ser11=)
NM_000543.5(SMPD1):c.348C>A (p.Ser116=)
NM_000543.5(SMPD1):c.348C>G (p.Ser116=) rs767122852
NM_000543.5(SMPD1):c.348C>T (p.Ser116=) rs767122852
NM_000543.5(SMPD1):c.354C>T (p.Ala118=) rs2134008712
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000543.5(SMPD1):c.358_370dup (p.Leu124fs)
NM_000543.5(SMPD1):c.363G>C (p.Leu121=) rs2134008743
NM_000543.5(SMPD1):c.363G>T (p.Leu121=)
NM_000543.5(SMPD1):c.36C>T (p.Cys12=) rs767287886
NM_000543.5(SMPD1):c.375G>A (p.Leu125=)
NM_000543.5(SMPD1):c.378G>A (p.Lys126=)
NM_000543.5(SMPD1):c.380T>C (p.Ile127Thr) rs1847903513
NM_000543.5(SMPD1):c.39del (p.Arg14fs) rs2134004594
NM_000543.5(SMPD1):c.402A>G (p.Gln134=)
NM_000543.5(SMPD1):c.405C>T (p.Ser135=) rs2134009009
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000543.5(SMPD1):c.420T>C (p.Phe140=)
NM_000543.5(SMPD1):c.429C>T (p.Asp143=) rs2134009167
NM_000543.5(SMPD1):c.435G>A (p.Val145=) rs1847906589
NM_000543.5(SMPD1):c.435G>T (p.Val145=)
NM_000543.5(SMPD1):c.437_439del (p.Glu146del)
NM_000543.5(SMPD1):c.439G>A (p.Val147Met) rs936971458
NM_000543.5(SMPD1):c.43del (p.Ser15fs) rs2134004628
NM_000543.5(SMPD1):c.441G>T (p.Val147=)
NM_000543.5(SMPD1):c.456G>A (p.Val152=) rs2134009327
NM_000543.5(SMPD1):c.45C>T (p.Ser15=)
NM_000543.5(SMPD1):c.476G>A (p.Cys159Tyr)
NM_000543.5(SMPD1):c.477_483dup (p.Leu162fs) rs2134009391
NM_000543.5(SMPD1):c.481C>T (p.Leu161=) rs1283765997
NM_000543.5(SMPD1):c.486C>A (p.Leu162=)
NM_000543.5(SMPD1):c.486C>G (p.Leu162=) rs758313663
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.49C>A (p.Arg17=)
NM_000543.5(SMPD1):c.504G>T (p.Gly168=)
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) rs1554934193
NM_000543.5(SMPD1):c.50G>A (p.Arg17Gln)
NM_000543.5(SMPD1):c.516T>C (p.Ile172=)
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.519C>T (p.Phe173=)
NM_000543.5(SMPD1):c.522A>C (p.Ser174=) rs2134009687
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter) rs1428487333
NM_000543.5(SMPD1):c.531C>T (p.Asn177=)
NM_000543.5(SMPD1):c.534C>A (p.Ile178=) rs142147633
NM_000543.5(SMPD1):c.536C>T (p.Ser179Phe) rs1215635747
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.544A>G (p.Thr182Ala)
NM_000543.5(SMPD1):c.564C>G (p.Pro188=)
NM_000543.5(SMPD1):c.564C>T (p.Pro188=) rs764993348
NM_000543.5(SMPD1):c.564del (p.Lys189fs) rs756366019
NM_000543.5(SMPD1):c.564dup (p.Lys189fs) rs756366019
NM_000543.5(SMPD1):c.567A>G (p.Lys189=) rs750187574
NM_000543.5(SMPD1):c.569C>T (p.Pro190Leu)
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.572del (p.Pro191fs) rs1590738506
NM_000543.5(SMPD1):c.573T>C (p.Pro191=) rs751653824
NM_000543.5(SMPD1):c.576C>T (p.Ser192=) rs1448298550
NM_000543.5(SMPD1):c.579C>T (p.Pro193=)
NM_000543.5(SMPD1):c.580C>T (p.Pro194Ser)
NM_000543.5(SMPD1):c.580_587dup (p.Gly197fs) rs2134010245
NM_000543.5(SMPD1):c.581del (p.Pro194fs) rs748165078
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000543.5(SMPD1):c.585C>T (p.Ala195=) rs2134010416
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.593C>A (p.Ala198Asp)
NM_000543.5(SMPD1):c.594C>G (p.Ala198=)
NM_000543.5(SMPD1):c.597del (p.Val200fs)
NM_000543.5(SMPD1):c.603C>T (p.Ser201=) rs2134010544
NM_000543.5(SMPD1):c.609C>T (p.Ile203=) rs746370637
NM_000543.5(SMPD1):c.60A>G (p.Gly20=)
NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile)
NM_000543.5(SMPD1):c.611T>A (p.Leu204His) rs2134010621
NM_000543.5(SMPD1):c.612C>G (p.Leu204=)
NM_000543.5(SMPD1):c.612C>T (p.Leu204=)
NM_000543.5(SMPD1):c.615C>T (p.Phe205=) rs2134010647
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter) rs1554933751
NM_000543.5(SMPD1):c.625C>T (p.Leu209=)
NM_000543.5(SMPD1):c.625del (p.Leu209fs) rs1847921591
NM_000543.5(SMPD1):c.627G>A (p.Leu209=) rs200443318
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)
NM_000543.5(SMPD1):c.642C>T (p.Asp214=)
NM_000543.5(SMPD1):c.654C>T (p.Gly218=)
NM_000543.5(SMPD1):c.660C>T (p.Asp220=)
NM_000543.5(SMPD1):c.661C>A (p.Pro221Thr) rs2134010893
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly) rs1847923379
NM_000543.5(SMPD1):c.669T>C (p.Cys223=)
NM_000543.5(SMPD1):c.669_670del (p.Ala224fs)
NM_000543.5(SMPD1):c.66C>T (p.Asp22=) rs886048444
NM_000543.5(SMPD1):c.681G>C (p.Leu227=) rs1208751863
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612
NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser)
NM_000543.5(SMPD1):c.690C>T (p.Arg230=) rs1590739083
NM_000543.5(SMPD1):c.691C>T (p.Arg231Trp)
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe) rs1847925080
NM_000543.5(SMPD1):c.699T>G (p.Ser233=)
NM_000543.5(SMPD1):c.699_717dup (p.Arg240fs) rs1847925196
NM_000543.5(SMPD1):c.69del (p.Thr24fs)
NM_000543.5(SMPD1):c.6C>T (p.Pro2=)
NM_000543.5(SMPD1):c.702C>A (p.Gly234=)
NM_000543.5(SMPD1):c.708G>T (p.Pro236=)
NM_000543.5(SMPD1):c.723A>G (p.Pro241=) rs1378142751
NM_000543.5(SMPD1):c.726T>C (p.Gly242=)
NM_000543.5(SMPD1):c.72C>A (p.Thr24=) rs886043870
NM_000543.5(SMPD1):c.72C>T (p.Thr24=) rs886043870
NM_000543.5(SMPD1):c.731G>A (p.Gly244Glu)
NM_000543.5(SMPD1):c.731G>C (p.Gly244Ala) rs2134011288
NM_000543.5(SMPD1):c.740del (p.Gly247fs)
NM_000543.5(SMPD1):c.742G>C (p.Glu248Gln) rs200763423
NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter) rs200763423
NM_000543.5(SMPD1):c.747C>T (p.Tyr249=) rs765716943
NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn)
NM_000543.5(SMPD1):c.765C>G (p.Pro255=)
NM_000543.5(SMPD1):c.765C>T (p.Pro255=)
NM_000543.5(SMPD1):c.766_767del (p.Leu256fs)
NM_000543.5(SMPD1):c.766dup (p.Leu256fs) rs1018556947
NM_000543.5(SMPD1):c.767T>C (p.Leu256Pro)
NM_000543.5(SMPD1):c.774C>T (p.Thr258=) rs2134011569
NM_000543.5(SMPD1):c.777G>A (p.Leu259=) rs2134011575
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.786G>T (p.Leu262=)
NM_000543.5(SMPD1):c.787T>C (p.Leu263=)
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter) rs120074120
NM_000543.5(SMPD1):c.796C>G (p.Leu266Val)
NM_000543.5(SMPD1):c.798G>A (p.Leu266=) rs2134011674
NM_000543.5(SMPD1):c.7del (p.Arg3fs) rs281860663
NM_000543.5(SMPD1):c.807del (p.Gly270fs)
NM_000543.5(SMPD1):c.820del (p.Met274fs) rs2134011809
NM_000543.5(SMPD1):c.825G>A (p.Val275=) rs1847934481
NM_000543.5(SMPD1):c.828C>T (p.Tyr276=) rs2134011863
NM_000543.5(SMPD1):c.830G>A (p.Trp277Ter)
NM_000543.5(SMPD1):c.833C>T (p.Thr278Ile)
NM_000543.5(SMPD1):c.834A>G (p.Thr278=)
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala) rs1847935299
NM_000543.5(SMPD1):c.840C>G (p.Asp280Glu) rs2134011919
NM_000543.5(SMPD1):c.840C>T (p.Asp280=)
NM_000543.5(SMPD1):c.842_849dup (p.His284fs) rs281860677
NM_000543.5(SMPD1):c.846C>T (p.Pro282=) rs990064419
NM_000543.5(SMPD1):c.849A>G (p.Ala283=)
NM_000543.5(SMPD1):c.84C>G (p.Pro28=) rs577769499
NM_000543.5(SMPD1):c.84del (p.Gly29fs) rs750157176
NM_000543.5(SMPD1):c.858C>T (p.Val286=)
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.890C>T (p.Ala297Val)
NM_000543.5(SMPD1):c.891C>G (p.Ala297=) rs2134012225
NM_000543.5(SMPD1):c.891C>T (p.Ala297=) rs2134012225
NM_000543.5(SMPD1):c.90C>T (p.Leu30=) rs748793138
NM_000543.5(SMPD1):c.910C>G (p.Leu304Val) rs2134012389
NM_000543.5(SMPD1):c.910C>T (p.Leu304Phe) rs2134012389
NM_000543.5(SMPD1):c.915G>A (p.Val305=)
NM_000543.5(SMPD1):c.918G>A (p.Arg306=)
NM_000543.5(SMPD1):c.919A>T (p.Lys307Ter)
NM_000543.5(SMPD1):c.921del (p.Lys307fs)
NM_000543.5(SMPD1):c.925C>T (p.Leu309=)
NM_000543.5(SMPD1):c.939A>G (p.Pro313=) rs1847944418
NM_000543.5(SMPD1):c.93T>C (p.Leu31=) rs2134005000
NM_000543.5(SMPD1):c.941T>C (p.Val314Ala)
NM_000543.5(SMPD1):c.948T>C (p.Pro316=) rs764694813
NM_000543.5(SMPD1):c.948T>G (p.Pro316=) rs764694813
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.957T>A (p.Gly319=) rs2134012714
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter) rs1554933780
NM_000543.5(SMPD1):c.960C>T (p.Asn320=) rs2134012736
NM_000543.5(SMPD1):c.961C>T (p.His321Tyr) rs2134012749
NM_000543.5(SMPD1):c.963T>C (p.His321=) rs2134012764
NM_000543.5(SMPD1):c.969C>T (p.Ser323=) rs2134012783
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.973C>T (p.Pro325Ser)
NM_000543.5(SMPD1):c.973_974insTGT (p.Pro325delinsLeuSer) rs398123480
NM_000543.5(SMPD1):c.993C>G (p.Pro331=) rs2134012879
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
NM_000543.5(SMPD1):c.994C>T (p.Pro332Ser)
NM_000543.5(SMPD1):c.995C>A (p.Pro332His)
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954
NM_000543.5(SMPD1):c.996C>A (p.Pro332=)
NM_000543.5(SMPD1):c.996C>G (p.Pro332=) rs1425916722
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000543.5(SMPD1):c.9C>G (p.Arg3=)
NM_000543.5(SMPD1):c.9C>T (p.Arg3=) rs2134004441
NM_001083116.3(PRF1):c.1002C>G (p.Gly334=)
NM_001083116.3(PRF1):c.1005C>A (p.Ser335Arg)
NM_001083116.3(PRF1):c.1011C>T (p.Gly337=)
NM_001083116.3(PRF1):c.1023C>T (p.Tyr341=) rs1362072680
NM_001083116.3(PRF1):c.1025C>T (p.Thr342Ile)
NM_001083116.3(PRF1):c.1027C>T (p.Leu343=) rs2132475900
NM_001083116.3(PRF1):c.1029G>A (p.Leu343=)
NM_001083116.3(PRF1):c.1033C>A (p.Pro345Thr) rs200641752
NM_001083116.3(PRF1):c.1034C>G (p.Pro345Arg)
NM_001083116.3(PRF1):c.1042G>A (p.Val348Met) rs776338709
NM_001083116.3(PRF1):c.1042G>C (p.Val348Leu)
NM_001083116.3(PRF1):c.1049T>C (p.Leu350Pro) rs1848169210
NM_001083116.3(PRF1):c.1053C>T (p.Asp351=)
NM_001083116.3(PRF1):c.1059G>A (p.Gln353=)
NM_001083116.3(PRF1):c.1064C>G (p.Pro355Arg) rs779488735
NM_001083116.3(PRF1):c.1065G>A (p.Pro355=)
NM_001083116.3(PRF1):c.1078C>T (p.Leu360=)
NM_001083116.3(PRF1):c.1078_1079del (p.Leu360fs)
NM_001083116.3(PRF1):c.1083G>A (p.Arg361=)
NM_001083116.3(PRF1):c.108G>A (p.Lys36=)
NM_001083116.3(PRF1):c.1092G>A (p.Leu364=)
NM_001083116.3(PRF1):c.1096C>T (p.Gln366Ter)
NM_001083116.3(PRF1):c.1098G>A (p.Gln366=)
NM_001083116.3(PRF1):c.1101C>T (p.Tyr367=)
NM_001083116.3(PRF1):c.1103_1110dup (p.Arg371Ter) rs2132475735
NM_001083116.3(PRF1):c.1113G>A (p.Arg371=) rs2132475717
NM_001083116.3(PRF1):c.1117C>G (p.Arg373Gly) rs374588624
NM_001083116.3(PRF1):c.1126del (p.Asp376fs)
NM_001083116.3(PRF1):c.1128C>T (p.Asp376=)
NM_001083116.3(PRF1):c.112G>C (p.Val38Leu) rs201909472
NM_001083116.3(PRF1):c.1130G>A (p.Cys377Tyr)
NM_001083116.3(PRF1):c.1132A>T (p.Ser378Cys)
NM_001083116.3(PRF1):c.1134C>A (p.Ser378Arg)
NM_001083116.3(PRF1):c.1134C>T (p.Ser378=)
NM_001083116.3(PRF1):c.1140G>T (p.Pro380=)
NM_001083116.3(PRF1):c.1142G>A (p.Cys381Tyr)
NM_001083116.3(PRF1):c.1146A>C (p.Pro382=)
NM_001083116.3(PRF1):c.1155G>A (p.Arg385=) rs751523638
NM_001083116.3(PRF1):c.1156C>T (p.Gln386Ter)
NM_001083116.3(PRF1):c.1158G>A (p.Gln386=)
NM_001083116.3(PRF1):c.1161G>A (p.Lys387=) rs2132475597
NM_001083116.3(PRF1):c.1164C>A (p.Ser388Arg) rs761607073
NM_001083116.3(PRF1):c.1164C>T (p.Ser388=)
NM_001083116.3(PRF1):c.1168C>T (p.Arg390Ter) rs760379846
NM_001083116.3(PRF1):c.1169G>A (p.Arg390Gln)
NM_001083116.3(PRF1):c.116C>A (p.Pro39His)
NM_001083116.3(PRF1):c.1188G>A (p.Val396=)
NM_001083116.3(PRF1):c.1189_1190del (p.Cys397fs)
NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs) rs1361687182
NM_001083116.3(PRF1):c.1194T>C (p.His398=)
NM_001083116.3(PRF1):c.1206C>T (p.Val402=)
NM_001083116.3(PRF1):c.120T>C (p.Gly40=)
NM_001083116.3(PRF1):c.120T>G (p.Gly40=)
NM_001083116.3(PRF1):c.1210A>G (p.Thr404Ala)
NM_001083116.3(PRF1):c.1212C>T (p.Thr404=)
NM_001083116.3(PRF1):c.1213C>T (p.Gln405Ter)
NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)
NM_001083116.3(PRF1):c.1230G>A (p.Arg410=)
NM_001083116.3(PRF1):c.1231C>T (p.Gln411Ter)
NM_001083116.3(PRF1):c.1238G>T (p.Gly413Val) rs1382419327
NM_001083116.3(PRF1):c.1239C>T (p.Gly413=) rs1290273606
NM_001083116.3(PRF1):c.123A>C (p.Ala41=)
NM_001083116.3(PRF1):c.123A>G (p.Ala41=)
NM_001083116.3(PRF1):c.1244C>G (p.Ala415Gly)
NM_001083116.3(PRF1):c.1260C>T (p.Thr420=)
NM_001083116.3(PRF1):c.1265T>C (p.Ile422Thr) rs2132475412
NM_001083116.3(PRF1):c.1266C>T (p.Ile422=)
NM_001083116.3(PRF1):c.1268A>C (p.Gln423Pro)
NM_001083116.3(PRF1):c.1273dup (p.Trp425fs)
NM_001083116.3(PRF1):c.1274G>A (p.Trp425Ter)
NM_001083116.3(PRF1):c.1277G>C (p.Gly426Ala) rs1564723771
NM_001083116.3(PRF1):c.1280T>G (p.Leu427Arg)
NM_001083116.3(PRF1):c.1283G>A (p.Trp428Ter)
NM_001083116.3(PRF1):c.1283G>T (p.Trp428Leu) rs747646127
NM_001083116.3(PRF1):c.1287G>A (p.Gly429=)
NM_001083116.3(PRF1):c.1290C>T (p.Asp430=)
NM_001083116.3(PRF1):c.12T>C (p.Arg4=)
NM_001083116.3(PRF1):c.1322T>C (p.Leu441Pro) rs1848159155
NM_001083116.3(PRF1):c.1323C>T (p.Leu441=)
NM_001083116.3(PRF1):c.1324T>C (p.Phe442Leu)
NM_001083116.3(PRF1):c.1329T>C (p.Phe443=)
NM_001083116.3(PRF1):c.132C>A (p.Ala44=) rs181323749
NM_001083116.3(PRF1):c.132C>T (p.Ala44=)
NM_001083116.3(PRF1):c.1332T>G (p.Gly444=)
NM_001083116.3(PRF1):c.1334G>A (p.Gly445Asp) rs754711256
NM_001083116.3(PRF1):c.1335C>T (p.Gly445=)
NM_001083116.3(PRF1):c.1347G>A (p.Arg449=) rs2132475246
NM_001083116.3(PRF1):c.134G>A (p.Gly45Glu)
NM_001083116.3(PRF1):c.1353C>T (p.Ser451=)
NM_001083116.3(PRF1):c.1356C>A (p.Thr452=)
NM_001083116.3(PRF1):c.1378A>G (p.Ile460Val)
NM_001083116.3(PRF1):c.1389G>A (p.Val463=)
NM_001083116.3(PRF1):c.1390C>A (p.Arg464=)
NM_001083116.3(PRF1):c.1390C>T (p.Arg464Trp) rs754602851
NM_001083116.3(PRF1):c.1391G>A (p.Arg464Gln)
NM_001083116.3(PRF1):c.1392G>A (p.Arg464=)
NM_001083116.3(PRF1):c.1398T>C (p.Asp466=)
NM_001083116.3(PRF1):c.1406_1428del (p.Asp469fs)
NM_001083116.3(PRF1):c.140G>A (p.Gly47Asp)
NM_001083116.3(PRF1):c.1410G>C (p.Val470=)
NM_001083116.3(PRF1):c.1411C>T (p.Leu471Phe)
NM_001083116.3(PRF1):c.1413C>G (p.Leu471=)
NM_001083116.3(PRF1):c.1422_1423del (p.Gly476fs)
NM_001083116.3(PRF1):c.1422del (p.Pro477_Leu478insTer)
NM_001083116.3(PRF1):c.1427G>A (p.Gly476Glu) rs377665096
NM_001083116.3(PRF1):c.1428G>T (p.Gly476=)
NM_001083116.3(PRF1):c.1428del (p.Pro477_Leu478insTer)
NM_001083116.3(PRF1):c.1428dup (p.Pro477fs)
NM_001083116.3(PRF1):c.1429C>A (p.Pro477Thr) rs1023934247
NM_001083116.3(PRF1):c.1429C>G (p.Pro477Ala) rs1023934247
NM_001083116.3(PRF1):c.1430C>T (p.Pro477Leu)
NM_001083116.3(PRF1):c.1434G>A (p.Leu478=) rs2132475070
NM_001083116.3(PRF1):c.1440G>A (p.Leu480=)
NM_001083116.3(PRF1):c.1443G>A (p.Gln481=)
NM_001083116.3(PRF1):c.1446C>G (p.Val482=)
NM_001083116.3(PRF1):c.1448G>A (p.Trp483Ter)
NM_001083116.3(PRF1):c.1450G>A (p.Asp484Asn)
NM_001083116.3(PRF1):c.1451del (p.Asp484fs)
NM_001083116.3(PRF1):c.1454A>G (p.Gln485Arg)
NM_001083116.3(PRF1):c.1470C>T (p.Asp490=)
NM_001083116.3(PRF1):c.1473T>C (p.Asp491=)
NM_001083116.3(PRF1):c.1477C>T (p.Leu493Phe) rs1848155946
NM_001083116.3(PRF1):c.147C>A (p.Asp49Glu) rs761310644
NM_001083116.3(PRF1):c.1488C>A (p.Thr496=)
NM_001083116.3(PRF1):c.148G>A (p.Val50Met) rs776299562
NM_001083116.3(PRF1):c.148G>C (p.Val50Leu)
NM_001083116.3(PRF1):c.1490G>C (p.Cys497Ser)
NM_001083116.3(PRF1):c.1497G>C (p.Gln499His)
NM_001083116.3(PRF1):c.150G>A (p.Val50=)
NM_001083116.3(PRF1):c.150del (p.Thr51fs)
NM_001083116.3(PRF1):c.1512T>C (p.Gly504=)
NM_001083116.3(PRF1):c.1540C>G (p.His514Asp)
NM_001083116.3(PRF1):c.1542T>A (p.His514Gln) rs1202935059
NM_001083116.3(PRF1):c.1560C>G (p.Arg520=)
NM_001083116.3(PRF1):c.1563T>C (p.Tyr521=)
NM_001083116.3(PRF1):c.1566T>C (p.His522=)
NM_001083116.3(PRF1):c.1567G>A (p.Ala523Thr)
NM_001083116.3(PRF1):c.1581C>A (p.Pro527=)
NM_001083116.3(PRF1):c.1589G>A (p.Gly530Glu) rs1350760396
NM_001083116.3(PRF1):c.1590A>C (p.Gly530=)
NM_001083116.3(PRF1):c.15G>C (p.Leu5=)
NM_001083116.3(PRF1):c.1602C>T (p.Cys534=)
NM_001083116.3(PRF1):c.1605G>C (p.Leu535=)
NM_001083116.3(PRF1):c.1610_1611del (p.Tyr537fs)
NM_001083116.3(PRF1):c.1611T>C (p.Tyr537=)
NM_001083116.3(PRF1):c.1614C>A (p.Val538=)
NM_001083116.3(PRF1):c.1626T>C (p.Leu542=) rs2132474821
NM_001083116.3(PRF1):c.1629G>A (p.Leu543=) rs767848717
NM_001083116.3(PRF1):c.1629G>C (p.Leu543=) rs767848717
NM_001083116.3(PRF1):c.1629G>T (p.Leu543=)
NM_001083116.3(PRF1):c.162C>A (p.Arg54=)
NM_001083116.3(PRF1):c.1650G>C (p.Arg550=) rs1483832689
NM_001083116.3(PRF1):c.1650G>T (p.Arg550=)
NM_001083116.3(PRF1):c.1659C>T (p.Ala553=)
NM_001083116.3(PRF1):c.165C>T (p.Arg55=)
NM_001083116.3(PRF1):c.1662G>A (p.Val554=)
NM_001083116.3(PRF1):c.167C>G (p.Ser56Trp) rs1473399571
NM_001083116.3(PRF1):c.170G>T (p.Gly57Val) rs2132478554
NM_001083116.3(PRF1):c.171C>T (p.Gly57=)
NM_001083116.3(PRF1):c.185_195del (p.Asp62fs) rs774071705
NM_001083116.3(PRF1):c.195G>A (p.Arg65=)
NM_001083116.3(PRF1):c.19C>T (p.Leu7Phe) rs767449445
NM_001083116.3(PRF1):c.202C>A (p.Arg68=)
NM_001083116.3(PRF1):c.203G>A (p.Arg68Gln)
NM_001083116.3(PRF1):c.204G>A (p.Arg68=)
NM_001083116.3(PRF1):c.205C>T (p.Pro69Ser) rs1848215226
NM_001083116.3(PRF1):c.207C>T (p.Pro69=)
NM_001083116.3(PRF1):c.208G>A (p.Asp70Asn) rs555317258
NM_001083116.3(PRF1):c.208G>T (p.Asp70Tyr)
NM_001083116.3(PRF1):c.210C>T (p.Asp70=) rs202134601
NM_001083116.3(PRF1):c.216C>A (p.Thr72=)
NM_001083116.3(PRF1):c.216C>T (p.Thr72=)
NM_001083116.3(PRF1):c.217T>C (p.Cys73Arg) rs1848214400
NM_001083116.3(PRF1):c.218G>A (p.Cys73Tyr)
NM_001083116.3(PRF1):c.218_224del (p.Cys73fs)
NM_001083116.3(PRF1):c.219C>T (p.Cys73=)
NM_001083116.3(PRF1):c.225C>T (p.Leu75=) rs2132478434
NM_001083116.3(PRF1):c.241C>T (p.Gln81Ter)
NM_001083116.3(PRF1):c.24G>T (p.Leu8=) rs1417778581
NM_001083116.3(PRF1):c.254T>C (p.Leu85Pro)
NM_001083116.3(PRF1):c.262C>A (p.Leu88Met)
NM_001083116.3(PRF1):c.26G>T (p.Gly9Val) rs1848221752
NM_001083116.3(PRF1):c.270G>C (p.Leu90=) rs2132478374
NM_001083116.3(PRF1):c.273G>T (p.Ala91=)
NM_001083116.3(PRF1):c.274C>T (p.Leu92Phe)
NM_001083116.3(PRF1):c.277A>G (p.Thr93Ala)
NM_001083116.3(PRF1):c.278C>A (p.Thr93Asn) rs1054187706
NM_001083116.3(PRF1):c.27C>T (p.Gly9=)
NM_001083116.3(PRF1):c.285G>A (p.Trp95Ter)
NM_001083116.3(PRF1):c.286C>T (p.Arg96Trp) rs144024245
NM_001083116.3(PRF1):c.287G>A (p.Arg96Gln)
NM_001083116.3(PRF1):c.297C>T (p.Gly99=)
NM_001083116.3(PRF1):c.2T>C (p.Met1Thr) rs2132478901
NM_001083116.3(PRF1):c.311G>A (p.Arg104His) rs139225004
NM_001083116.3(PRF1):c.312C>T (p.Arg104=)
NM_001083116.3(PRF1):c.315T>C (p.His105=)
NM_001083116.3(PRF1):c.319A>C (p.Thr107Pro)
NM_001083116.3(PRF1):c.321C>T (p.Thr107=)
NM_001083116.3(PRF1):c.326C>T (p.Ala109Val) rs1589233312
NM_001083116.3(PRF1):c.327del (p.Val111fs)
NM_001083116.3(PRF1):c.329_330del (p.Lys110fs)
NM_001083116.3(PRF1):c.339C>T (p.Ser113=) rs2132478269
NM_001083116.3(PRF1):c.33T>C (p.Leu11=)
NM_001083116.3(PRF1):c.342T>C (p.Thr114=) rs776801201
NM_001083116.3(PRF1):c.342T>G (p.Thr114=)
NM_001083116.3(PRF1):c.343G>A (p.Glu115Lys) rs1399537466
NM_001083116.3(PRF1):c.348T>C (p.Ala116=)
NM_001083116.3(PRF1):c.34C>G (p.Leu12Val)
NM_001083116.3(PRF1):c.355C>T (p.Arg119Trp) rs749110507
NM_001083116.3(PRF1):c.35_46del (p.Leu12_Leu15del) rs1848221319
NM_001083116.3(PRF1):c.362C>T (p.Ala121Val)
NM_001083116.3(PRF1):c.366T>A (p.Ala122=)
NM_001083116.3(PRF1):c.366T>C (p.Ala122=)
NM_001083116.3(PRF1):c.369T>C (p.Arg123=) rs1848208866
NM_001083116.3(PRF1):c.36C>G (p.Leu12=)
NM_001083116.3(PRF1):c.36C>T (p.Leu12=)
NM_001083116.3(PRF1):c.378C>T (p.Arg126=)
NM_001083116.3(PRF1):c.380A>G (p.Asn127Ser) rs202091142
NM_001083116.3(PRF1):c.381C>T (p.Asn127=)
NM_001083116.3(PRF1):c.391G>T (p.Val131Phe) rs761941942
NM_001083116.3(PRF1):c.393C>A (p.Val131=) rs374948681
NM_001083116.3(PRF1):c.393C>T (p.Val131=) rs374948681
NM_001083116.3(PRF1):c.394G>A (p.Gly132Arg)
NM_001083116.3(PRF1):c.394G>T (p.Gly132Trp) rs201382038
NM_001083116.3(PRF1):c.402C>A (p.Asp134Glu)
NM_001083116.3(PRF1):c.402C>T (p.Asp134=) rs564234285
NM_001083116.3(PRF1):c.403G>T (p.Val135Leu) rs12263572
NM_001083116.3(PRF1):c.408T>G (p.Thr136=)
NM_001083116.3(PRF1):c.409C>T (p.Pro137Ser)
NM_001083116.3(PRF1):c.420C>A (p.Thr140=)
NM_001083116.3(PRF1):c.426T>C (p.Asn142=)
NM_001083116.3(PRF1):c.429G>A (p.Val143=)
NM_001083116.3(PRF1):c.429G>C (p.Val143=)
NM_001083116.3(PRF1):c.431_434del (p.His144fs)
NM_001083116.3(PRF1):c.434T>C (p.Val145Ala) rs535296791
NM_001083116.3(PRF1):c.442G>A (p.Ala148Thr) rs1208723557
NM_001083116.3(PRF1):c.447C>T (p.Gly149=)
NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)
NM_001083116.3(PRF1):c.449C>T (p.Ser150Leu) rs773267292
NM_001083116.3(PRF1):c.453C>T (p.His151=)
NM_001083116.3(PRF1):c.45G>A (p.Leu15=)
NM_001083116.3(PRF1):c.465C>A (p.Ala155=)
NM_001083116.3(PRF1):c.465C>T (p.Ala155=)
NM_001083116.3(PRF1):c.46C>A (p.Pro16Thr) rs1031606439
NM_001083116.3(PRF1):c.46C>T (p.Pro16Ser) rs1031606439
NM_001083116.3(PRF1):c.477C>G (p.Ala159=)
NM_001083116.3(PRF1):c.479A>C (p.Gln160Pro) rs1848204757
NM_001083116.3(PRF1):c.47C>T (p.Pro16Leu) rs751379475
NM_001083116.3(PRF1):c.481A>G (p.Lys161Glu) rs1589233127
NM_001083116.3(PRF1):c.487del (p.His163fs) rs1848204643
NM_001083116.3(PRF1):c.48C>T (p.Pro16=) rs2132478807
NM_001083116.3(PRF1):c.490C>T (p.Gln164Ter)
NM_001083116.3(PRF1):c.495C>G (p.Asp165Glu)
NM_001083116.3(PRF1):c.501C>G (p.Tyr167Ter) rs2132477913
NM_001083116.3(PRF1):c.513T>C (p.Thr171=)
NM_001083116.3(PRF1):c.518C>A (p.Thr173Lys)
NM_001083116.3(PRF1):c.519G>A (p.Thr173=) rs112883709
NM_001083116.3(PRF1):c.519G>C (p.Thr173=) rs112883709
NM_001083116.3(PRF1):c.530G>A (p.Arg177His)
NM_001083116.3(PRF1):c.531C>T (p.Arg177=)
NM_001083116.3(PRF1):c.537C>T (p.Tyr179=)
NM_001083116.3(PRF1):c.539+11G>C
NM_001083116.3(PRF1):c.539+14C>T
NM_001083116.3(PRF1):c.539+17G>A rs2132477847
NM_001083116.3(PRF1):c.539+2T>A
NM_001083116.3(PRF1):c.539+8C>T rs1457993061
NM_001083116.3(PRF1):c.53C>A (p.Pro18His) rs1357790767
NM_001083116.3(PRF1):c.540-10C>T
NM_001083116.3(PRF1):c.540-11T>C
NM_001083116.3(PRF1):c.540-14C>T
NM_001083116.3(PRF1):c.540-18G>T
NM_001083116.3(PRF1):c.540-20A>G
NM_001083116.3(PRF1):c.540-5C>T
NM_001083116.3(PRF1):c.546T>C (p.His182=)
NM_001083116.3(PRF1):c.549G>A (p.Val183=)
NM_001083116.3(PRF1):c.54C>T (p.Pro18=)
NM_001083116.3(PRF1):c.550G>A (p.Val184Ile) rs1554868125
NM_001083116.3(PRF1):c.552A>G (p.Val184=)
NM_001083116.3(PRF1):c.552A>T (p.Val184=) rs755282048
NM_001083116.3(PRF1):c.560C>T (p.Pro187Leu)
NM_001083116.3(PRF1):c.563dup (p.Leu189fs) rs1454231642
NM_001083116.3(PRF1):c.564G>A (p.Pro188=)
NM_001083116.3(PRF1):c.564G>T (p.Pro188=)
NM_001083116.3(PRF1):c.565C>T (p.Leu189=)
NM_001083116.3(PRF1):c.568C>T (p.His190Tyr)
NM_001083116.3(PRF1):c.571C>G (p.Pro191Ala)
NM_001083116.3(PRF1):c.576C>T (p.Asp192=)
NM_001083116.3(PRF1):c.577T>C (p.Phe193Leu)
NM_001083116.3(PRF1):c.582G>A (p.Lys194=)
NM_001083116.3(PRF1):c.587C>T (p.Ala196Val)
NM_001083116.3(PRF1):c.594G>A (p.Gly198=)
NM_001083116.3(PRF1):c.597C>T (p.Asp199=)
NM_001083116.3(PRF1):c.600G>A (p.Leu200=)
NM_001083116.3(PRF1):c.605A>T (p.His202Leu) rs1848182798
NM_001083116.3(PRF1):c.60T>C (p.Pro20=)
NM_001083116.3(PRF1):c.60T>G (p.Pro20=)
NM_001083116.3(PRF1):c.620C>T (p.Ser207Phe)
NM_001083116.3(PRF1):c.625C>T (p.Gln209Ter)
NM_001083116.3(PRF1):c.640A>G (p.Arg214Gly)
NM_001083116.3(PRF1):c.642G>A (p.Arg214=)
NM_001083116.3(PRF1):c.64C>T (p.Pro22Ser) rs1389748708
NM_001083116.3(PRF1):c.657C>A (p.Tyr219Ter)
NM_001083116.3(PRF1):c.658G>C (p.Gly220Arg) rs776571416
NM_001083116.3(PRF1):c.65del (p.Pro22fs)
NM_001083116.3(PRF1):c.65dup (p.Cys23fs)
NM_001083116.3(PRF1):c.671T>C (p.Ile224Thr) rs1419243128
NM_001083116.3(PRF1):c.677C>A (p.Ala226Asp)
NM_001083116.3(PRF1):c.684G>A (p.Glu228=)
NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)
NM_001083116.3(PRF1):c.696C>T (p.Arg232=)
NM_001083116.3(PRF1):c.6A>G (p.Ala2=)
NM_001083116.3(PRF1):c.701C>T (p.Ser234Leu)
NM_001083116.3(PRF1):c.711T>C (p.Thr237=) rs748151937
NM_001083116.3(PRF1):c.717G>T (p.Leu239=)
NM_001083116.3(PRF1):c.720C>T (p.Arg240=)
NM_001083116.3(PRF1):c.722C>A (p.Thr241Asn)
NM_001083116.3(PRF1):c.723C>T (p.Thr241=)
NM_001083116.3(PRF1):c.724T>G (p.Cys242Gly)
NM_001083116.3(PRF1):c.72C>A (p.His24Gln) rs1848220444
NM_001083116.3(PRF1):c.732G>T (p.Leu244=)
NM_001083116.3(PRF1):c.738G>A (p.Leu246=)
NM_001083116.3(PRF1):c.747C>T (p.Leu249=)
NM_001083116.3(PRF1):c.750G>A (p.Thr250=)
NM_001083116.3(PRF1):c.75A>G (p.Thr25=)
NM_001083116.3(PRF1):c.762G>A (p.Val254=) rs2132476492
NM_001083116.3(PRF1):c.763G>A (p.Glu255Lys) rs1324577129
NM_001083116.3(PRF1):c.769_770insAGG (p.Cys257Ter)
NM_001083116.3(PRF1):c.772C>T (p.Leu258=)
NM_001083116.3(PRF1):c.774G>A (p.Leu258=)
NM_001083116.3(PRF1):c.789G>A (p.Gln263=)
NM_001083116.3(PRF1):c.78C>G (p.Ala26=)
NM_001083116.3(PRF1):c.797T>C (p.Ile266Thr) rs763667216
NM_001083116.3(PRF1):c.801C>T (p.Gly267=)
NM_001083116.3(PRF1):c.804C>T (p.Ile268=)
NM_001083116.3(PRF1):c.806A>C (p.His269Pro) rs761293997
NM_001083116.3(PRF1):c.808_812del (p.Gly270fs) rs2132476381
NM_001083116.3(PRF1):c.810C>T (p.Gly270=)
NM_001083116.3(PRF1):c.821_822delinsTT (p.Ala274Val)
NM_001083116.3(PRF1):c.827C>T (p.Ala276Val)
NM_001083116.3(PRF1):c.82C>G (p.Arg28Gly) rs141660796
NM_001083116.3(PRF1):c.836G>T (p.Cys279Phe) rs104894182
NM_001083116.3(PRF1):c.843G>A (p.Glu281=)
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del) rs745902829
NM_001083116.3(PRF1):c.858del (p.His286fs)
NM_001083116.3(PRF1):c.859A>C (p.Lys287Gln) rs2132476286
NM_001083116.3(PRF1):c.870C>G (p.Ala290=)
NM_001083116.3(PRF1):c.870C>T (p.Ala290=)
NM_001083116.3(PRF1):c.876C>T (p.Phe292=)
NM_001083116.3(PRF1):c.879C>T (p.His293=) rs1554867945
NM_001083116.3(PRF1):c.884C>A (p.Thr295Asn)
NM_001083116.3(PRF1):c.885C>T (p.Thr295=) rs757011029
NM_001083116.3(PRF1):c.888C>G (p.Tyr296Ter)
NM_001083116.3(PRF1):c.889C>T (p.Arg297Trp)
NM_001083116.3(PRF1):c.890G>A (p.Arg297Gln)
NM_001083116.3(PRF1):c.894G>A (p.Glu298=) rs760042830
NM_001083116.3(PRF1):c.894_895delinsTT (p.Glu298_Arg299delinsAspCys)
NM_001083116.3(PRF1):c.897C>G (p.Arg299=)
NM_001083116.3(PRF1):c.902C>A (p.Ser301Ter) rs1259291325
NM_001083116.3(PRF1):c.902C>T (p.Ser301Leu)
NM_001083116.3(PRF1):c.904G>T (p.Glu302Ter)
NM_001083116.3(PRF1):c.911T>C (p.Val304Ala) rs1163295281
NM_001083116.3(PRF1):c.937G>A (p.Asp313Asn)
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)
NM_001083116.3(PRF1):c.939C>T (p.Asp313=)
NM_001083116.3(PRF1):c.941T>C (p.Leu314Pro) rs886047109
NM_001083116.3(PRF1):c.948C>A (p.Phe316Leu) rs201235771
NM_001083116.3(PRF1):c.948C>T (p.Phe316=) rs201235771
NM_001083116.3(PRF1):c.949G>A (p.Gly317Arg)
NM_001083116.3(PRF1):c.954C>T (p.Ile318=)
NM_001083116.3(PRF1):c.957G>A (p.Gln319=)
NM_001083116.3(PRF1):c.960C>T (p.Ala320=)
NM_001083116.3(PRF1):c.963del (p.Glu323fs) rs2132476029
NM_001083116.3(PRF1):c.966C>G (p.Pro322=)
NM_001083116.3(PRF1):c.974A>G (p.Tyr325Cys) rs1468823939
NM_001083116.3(PRF1):c.980C>T (p.Ala327Val) rs371021342
NM_001083116.3(PRF1):c.984G>A (p.Trp328Ter)
NM_001083116.3(PRF1):c.993G>A (p.Ser331=) rs747803356
NM_001083116.3(PRF1):c.999C>G (p.Pro333=)
NM_002435.3(MPI):c.1001_1002dup (p.Leu335fs)
NM_002435.3(MPI):c.1001_1004del (p.Tyr334fs) rs2141208628
NM_002435.3(MPI):c.1006_1007del (p.Ser336fs)
NM_002435.3(MPI):c.1008A>C (p.Ser336=)
NM_002435.3(MPI):c.1008A>T (p.Ser336=) rs2141208646
NM_002435.3(MPI):c.1017C>T (p.Asp339=)
NM_002435.3(MPI):c.1020C>T (p.Pro340=) rs2141208695
NM_002435.3(MPI):c.1022del (p.Pro341fs)
NM_002435.3(MPI):c.1022dup (p.Val342fs) rs765310894
NM_002435.3(MPI):c.1034dup (p.Thr346fs) rs2141208718
NM_002435.3(MPI):c.1053+14T>C
NM_002435.3(MPI):c.1053+16T>C
NM_002435.3(MPI):c.1053+20G>C
NM_002435.3(MPI):c.1053+2T>C rs2141208760
NM_002435.3(MPI):c.1054-11T>C
NM_002435.3(MPI):c.1054-17_1054-15del
NM_002435.3(MPI):c.1054-6G>A
NM_002435.3(MPI):c.1054-7T>C rs2141209464
NM_002435.3(MPI):c.1054-8C>G rs2141209458
NM_002435.3(MPI):c.1054-9C>T
NM_002435.3(MPI):c.1058del (p.Pro353fs)
NM_002435.3(MPI):c.1062C>T (p.Gly354=)
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs) rs2064839839
NM_002435.3(MPI):c.1074A>G (p.Glu358=) rs2141209541
NM_002435.3(MPI):c.1083C>T (p.Val361=)
NM_002435.3(MPI):c.1086G>A (p.Leu362=) rs905233208
NM_002435.3(MPI):c.1087del (p.Ala363fs) rs2141209567
NM_002435.3(MPI):c.1095C>T (p.Asp365=) rs2064840337
NM_002435.3(MPI):c.1096T>C (p.Ser366Pro) rs1555479551
NM_002435.3(MPI):c.1098T>G (p.Ser366=)
NM_002435.3(MPI):c.1111C>T (p.Leu371=) rs1403486851
NM_002435.3(MPI):c.1113G>A (p.Leu371=) rs2141209616
NM_002435.3(MPI):c.1113G>T (p.Leu371=)
NM_002435.3(MPI):c.1120C>T (p.Gln374Ter)
NM_002435.3(MPI):c.1122G>A (p.Gln374=)
NM_002435.3(MPI):c.1137C>T (p.Ala379=) rs2141209695
NM_002435.3(MPI):c.1137_1140del (p.Ser380fs)
NM_002435.3(MPI):c.1140C>T (p.Ser380=) rs2141209705
NM_002435.3(MPI):c.1143A>C (p.Thr381=) rs1595824783
NM_002435.3(MPI):c.1152C>G (p.Thr384=)
NM_002435.3(MPI):c.1152C>T (p.Thr384=) rs2064841631
NM_002435.3(MPI):c.1157C>T (p.Thr386Ile) rs2141209748
NM_002435.3(MPI):c.1166del (p.Pro389fs)
NM_002435.3(MPI):c.1170G>A (p.Leu390=)
NM_002435.3(MPI):c.1170G>C (p.Leu390=)
NM_002435.3(MPI):c.1170G>T (p.Leu390=)
NM_002435.3(MPI):c.1173A>G (p.Gln391=)
NM_002435.3(MPI):c.1179T>C (p.Gly393=)
NM_002435.3(MPI):c.1188C>G (p.Leu396=)
NM_002435.3(MPI):c.1188C>T (p.Leu396=)
NM_002435.3(MPI):c.1197G>A (p.Gly399=) rs2064842732
NM_002435.3(MPI):c.1207A>T (p.Ser403Cys)
NM_002435.3(MPI):c.1212C>T (p.Val404=) rs2064843052
NM_002435.3(MPI):c.1216C>T (p.Leu406=) rs1268364682
NM_002435.3(MPI):c.1224T>A (p.Leu408=)
NM_002435.3(MPI):c.1227T>C (p.Thr409=)
NM_002435.3(MPI):c.122del (p.Ala41fs)
NM_002435.3(MPI):c.1233G>T (p.Pro411=) rs746867428
NM_002435.3(MPI):c.1236G>A (p.Lys412=) rs2141209962
NM_002435.3(MPI):c.124G>C (p.Glu42Gln)
NM_002435.3(MPI):c.1263T>C (p.Cys421=)
NM_002435.3(MPI):c.1264C>T (p.Leu422=)
NM_002435.3(MPI):c.1266G>C (p.Leu422=) rs779158025
NM_002435.3(MPI):c.1267C>T (p.Leu423=) rs2141210022
NM_002435.3(MPI):c.1269G>C (p.Leu423=) rs371664469
NM_002435.3(MPI):c.126G>A (p.Glu42=)
NM_002435.3(MPI):c.129C>T (p.Asp43=) rs2141196159
NM_002435.3(MPI):c.138T>C (p.Tyr46=) rs2141196187
NM_002435.3(MPI):c.140C>G (p.Ala47Gly)
NM_002435.3(MPI):c.141A>G (p.Ala47=)
NM_002435.3(MPI):c.144+10G>A rs2064712214
NM_002435.3(MPI):c.144+13C>T
NM_002435.3(MPI):c.144+15G>A
NM_002435.3(MPI):c.144+19T>G
NM_002435.3(MPI):c.144+1G>A
NM_002435.3(MPI):c.144+20T>C
NM_002435.3(MPI):c.144+2T>C
NM_002435.3(MPI):c.144+7C>T
NM_002435.3(MPI):c.145-10G>A
NM_002435.3(MPI):c.145-13C>T
NM_002435.3(MPI):c.145-5T>C
NM_002435.3(MPI):c.145-9T>C rs2141197441
NM_002435.3(MPI):c.150G>A (p.Trp50Ter) rs1406722622
NM_002435.3(MPI):c.156G>A (p.Gly52=) rs2141197487
NM_002435.3(MPI):c.159T>C (p.Thr53=)
NM_002435.3(MPI):c.15_16+5del rs2141194911
NM_002435.3(MPI):c.16+11G>A
NM_002435.3(MPI):c.16+13C>T
NM_002435.3(MPI):c.16+15G>A
NM_002435.3(MPI):c.16+15G>C
NM_002435.3(MPI):c.16+15G>T
NM_002435.3(MPI):c.16+17G>A
NM_002435.3(MPI):c.16+17G>C
NM_002435.3(MPI):c.16+18G>T
NM_002435.3(MPI):c.16+18dup
NM_002435.3(MPI):c.16+19T>C
NM_002435.3(MPI):c.16+1G>A
NM_002435.3(MPI):c.16+7C>T
NM_002435.3(MPI):c.16+8A>T
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.17-12C>G
NM_002435.3(MPI):c.17-13T>C
NM_002435.3(MPI):c.17-4C>G
NM_002435.3(MPI):c.170G>T (p.Gly57Val)
NM_002435.3(MPI):c.171G>A (p.Gly57=)
NM_002435.3(MPI):c.177C>A (p.Ala59=)
NM_002435.3(MPI):c.177C>T (p.Ala59=) rs2064724687
NM_002435.3(MPI):c.180G>A (p.Lys60=)
NM_002435.3(MPI):c.183_184delinsAA (p.Leu62Ile)
NM_002435.3(MPI):c.194G>A (p.Arg65His)
NM_002435.3(MPI):c.204G>A (p.Gln68=)
NM_002435.3(MPI):c.206del (p.Lys69fs)
NM_002435.3(MPI):c.207G>A (p.Lys69=)
NM_002435.3(MPI):c.222G>A (p.Trp74Ter)
NM_002435.3(MPI):c.225T>C (p.Ile75=)
NM_002435.3(MPI):c.231G>A (p.Glu77=)
NM_002435.3(MPI):c.238G>A (p.Asp80Asn) rs1444877183
NM_002435.3(MPI):c.246G>A (p.Leu82=)
NM_002435.3(MPI):c.249C>A (p.Gly83=) rs146863816
NM_002435.3(MPI):c.249C>T (p.Gly83=)
NM_002435.3(MPI):c.258C>T (p.Val86=) rs2141197661
NM_002435.3(MPI):c.282G>C (p.Leu94=) rs2141197716
NM_002435.3(MPI):c.288C>T (p.Phe96=) rs2064726439
NM_002435.3(MPI):c.303C>G (p.Leu101=)
NM_002435.3(MPI):c.306A>G (p.Ser102=) rs2141197776
NM_002435.3(MPI):c.315A>C (p.Thr105=) rs755946117
NM_002435.3(MPI):c.315A>T (p.Thr105=)
NM_002435.3(MPI):c.319C>T (p.Leu107=) rs2064727157
NM_002435.3(MPI):c.324C>T (p.Ser108=) rs2141197827
NM_002435.3(MPI):c.335_338del (p.His112fs) rs2141197839
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter) rs1661886822
NM_002435.3(MPI):c.33T>G (p.Cys11Trp) rs2064708840
NM_002435.3(MPI):c.342C>T (p.Asn114=)
NM_002435.3(MPI):c.345+15_345+16delinsAT rs1064794476
NM_002435.3(MPI):c.345+17G>A
NM_002435.3(MPI):c.345+19T>C
NM_002435.3(MPI):c.345+9C>G
NM_002435.3(MPI):c.346-10C>G
NM_002435.3(MPI):c.346-12G>A
NM_002435.3(MPI):c.346-14T>G
NM_002435.3(MPI):c.346-15C>T
NM_002435.3(MPI):c.346-15del
NM_002435.3(MPI):c.346-16C>T
NM_002435.3(MPI):c.346-18C>A
NM_002435.3(MPI):c.346-5C>T
NM_002435.3(MPI):c.346-8C>T rs906781914
NM_002435.3(MPI):c.351G>A (p.Leu117=)
NM_002435.3(MPI):c.360G>A (p.Lys120=)
NM_002435.3(MPI):c.362T>C (p.Leu121Pro)
NM_002435.3(MPI):c.363G>A (p.Leu121=) rs879379479
NM_002435.3(MPI):c.366C>T (p.His122=)
NM_002435.3(MPI):c.369C>T (p.Leu123=)
NM_002435.3(MPI):c.36G>C (p.Ala12=)
NM_002435.3(MPI):c.370dup (p.Gln124fs)
NM_002435.3(MPI):c.381G>A (p.Gln127=)
NM_002435.3(MPI):c.396C>T (p.Ala132=) rs2141199526
NM_002435.3(MPI):c.402C>T (p.His134=) rs2141199543
NM_002435.3(MPI):c.417C>T (p.Ala139=)
NM_002435.3(MPI):c.426C>G (p.Leu142=)
NM_002435.3(MPI):c.432C>G (p.Pro144=) rs145767808
NM_002435.3(MPI):c.432C>T (p.Pro144=) rs145767808
NM_002435.3(MPI):c.43C>T (p.Gln15Ter)
NM_002435.3(MPI):c.43_44insCTGGGGGA (p.Gln15fs)
NM_002435.3(MPI):c.444G>A (p.Leu148=)
NM_002435.3(MPI):c.44del (p.Gln15fs)
NM_002435.3(MPI):c.455G>C (p.Arg152Pro) rs766458792
NM_002435.3(MPI):c.459A>G (p.Pro153=)
NM_002435.3(MPI):c.45G>C (p.Gln15His) rs371649838
NM_002435.3(MPI):c.465G>A (p.Glu155=)
NM_002435.3(MPI):c.471T>A (p.Ile157=)
NM_002435.3(MPI):c.471T>C (p.Ile157=)
NM_002435.3(MPI):c.477C>T (p.Thr159=)
NM_002435.3(MPI):c.487+10G>A rs2141199719
NM_002435.3(MPI):c.487+12A>G
NM_002435.3(MPI):c.487+14A>C
NM_002435.3(MPI):c.487+17G>A
NM_002435.3(MPI):c.487+7T>C
NM_002435.3(MPI):c.488-12G>A rs969925962
NM_002435.3(MPI):c.488-12G>C
NM_002435.3(MPI):c.488-17G>A
NM_002435.3(MPI):c.488-5T>C rs2141200247
NM_002435.3(MPI):c.488-6C>T
NM_002435.3(MPI):c.490del (p.Val164fs)
NM_002435.3(MPI):c.492G>A (p.Val164=) rs2141200277
NM_002435.3(MPI):c.507C>T (p.Phe169=)
NM_002435.3(MPI):c.527C>T (p.Ala176Val) rs1256364766
NM_002435.3(MPI):c.530C>T (p.Thr177Ile)
NM_002435.3(MPI):c.531A>G (p.Thr177=)
NM_002435.3(MPI):c.533A>C (p.His178Pro) rs2141200350
NM_002435.3(MPI):c.534C>T (p.His178=) rs775688839
NM_002435.3(MPI):c.546C>T (p.Thr182=) rs2064752091
NM_002435.3(MPI):c.567T>C (p.Ala189=)
NM_002435.3(MPI):c.576C>G (p.Ser192=)
NM_002435.3(MPI):c.576C>T (p.Ser192=) rs794727716
NM_002435.3(MPI):c.587G>A (p.Ser196Asn)
NM_002435.3(MPI):c.591T>C (p.Cys197=) rs2141200469
NM_002435.3(MPI):c.593dup (p.Ser199fs)
NM_002435.3(MPI):c.594C>T (p.Phe198=) rs1399029075
NM_002435.3(MPI):c.602T>C (p.Leu201Pro) rs2064752971
NM_002435.3(MPI):c.60G>A (p.Lys20=) rs779832985
NM_002435.3(MPI):c.612_615del (p.Ser204fs)
NM_002435.3(MPI):c.613G>T (p.Glu205Ter)
NM_002435.3(MPI):c.618G>A (p.Lys206=) rs777538825
NM_002435.3(MPI):c.627G>A (p.Val209=)
NM_002435.3(MPI):c.627G>T (p.Val209=)
NM_002435.3(MPI):c.630G>A (p.Val210=)
NM_002435.3(MPI):c.631del (p.Glu211fs) rs1374119101
NM_002435.3(MPI):c.633A>G (p.Glu211=) rs2141200588
NM_002435.3(MPI):c.643C>T (p.Leu215=) rs1595818707
NM_002435.3(MPI):c.647_650del (p.Leu215_Leu216insTer) rs2141200617
NM_002435.3(MPI):c.657G>A (p.Arg219=) rs1318782866
NM_002435.3(MPI):c.657G>C (p.Arg219=) rs1318782866
NM_002435.3(MPI):c.657del (p.Ile220fs)
NM_002435.3(MPI):c.65del (p.Gly22fs)
NM_002435.3(MPI):c.661T>A (p.Ser221Thr)
NM_002435.3(MPI):c.670+10G>A rs2141200747
NM_002435.3(MPI):c.670+13A>G
NM_002435.3(MPI):c.670+14T>C
NM_002435.3(MPI):c.670+15A>C
NM_002435.3(MPI):c.670+3G>A
NM_002435.3(MPI):c.670+7A>G
NM_002435.3(MPI):c.670+8_670+9del
NM_002435.3(MPI):c.670+8_670+9inv
NM_002435.3(MPI):c.670+9A>C rs7495739
NM_002435.3(MPI):c.670+9A>G rs7495739
NM_002435.3(MPI):c.670+9A>T rs7495739
NM_002435.3(MPI):c.670+9del
NM_002435.3(MPI):c.670+9dup rs1595818806
NM_002435.3(MPI):c.671-13_671-12del
NM_002435.3(MPI):c.671-15C>G
NM_002435.3(MPI):c.671-15C>T
NM_002435.3(MPI):c.671-7C>T rs2141206472
NM_002435.3(MPI):c.671-8A>T
NM_002435.3(MPI):c.671-9G>C rs561678676
NM_002435.3(MPI):c.675T>C (p.Ala225=)
NM_002435.3(MPI):c.678C>A (p.Ala226=) rs199972529
NM_002435.3(MPI):c.678C>T (p.Ala226=)
NM_002435.3(MPI):c.679G>A (p.Gly227Arg)
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.681A>G (p.Gly227=) rs1595822320
NM_002435.3(MPI):c.693G>A (p.Glu231=) rs2141206565
NM_002435.3(MPI):c.695A>G (p.Asp232Gly) rs765912695
NM_002435.3(MPI):c.699C>T (p.Ile233=)
NM_002435.3(MPI):c.6C>A (p.Ala2=) rs149477499
NM_002435.3(MPI):c.6C>G (p.Ala2=)
NM_002435.3(MPI):c.6C>T (p.Ala2=) rs149477499
NM_002435.3(MPI):c.706dup (p.Glu236fs)
NM_002435.3(MPI):c.712T>C (p.Leu238=)
NM_002435.3(MPI):c.713del (p.Leu238fs) rs745432667
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.744T>C (p.Asp248=) rs2141206666
NM_002435.3(MPI):c.745dup (p.Ile249fs) rs2141206676
NM_002435.3(MPI):c.747C>A (p.Ile249=) rs778875616
NM_002435.3(MPI):c.751del (p.Cys251fs)
NM_002435.3(MPI):c.753del (p.Phe252fs) rs2141206722
NM_002435.3(MPI):c.764_776del (p.Tyr255fs)
NM_002435.3(MPI):c.765C>T (p.Tyr255=)
NM_002435.3(MPI):c.769C>T (p.Leu257=) rs1595822532
NM_002435.3(MPI):c.771G>A (p.Leu257=) rs2141206771
NM_002435.3(MPI):c.774C>T (p.Asn258=)
NM_002435.3(MPI):c.775C>T (p.Leu259=) rs2141206776
NM_002435.3(MPI):c.777G>A (p.Leu259=)
NM_002435.3(MPI):c.783C>A (p.Thr261=) rs2141206797
NM_002435.3(MPI):c.783C>T (p.Thr261=) rs2141206797
NM_002435.3(MPI):c.786G>A (p.Leu262=) rs1301498236
NM_002435.3(MPI):c.78A>G (p.Glu26=) rs1596440826
NM_002435.3(MPI):c.792T>C (p.Pro264=)
NM_002435.3(MPI):c.792dup (p.Gly265fs)
NM_002435.3(MPI):c.810G>A (p.Leu270=)
NM_002435.3(MPI):c.810G>C (p.Leu270=) rs2141206859
NM_002435.3(MPI):c.811del (p.Glu271fs)
NM_002435.3(MPI):c.815C>T (p.Ala272Val)
NM_002435.3(MPI):c.816C>G (p.Ala272=) rs2064817492
NM_002435.3(MPI):c.820dup (p.Val274fs) rs1567268668
NM_002435.3(MPI):c.830_831del (p.Ala277fs)
NM_002435.3(MPI):c.834C>T (p.Tyr278=)
NM_002435.3(MPI):c.841G>T (p.Gly281Ter)
NM_002435.3(MPI):c.843_844+1del
NM_002435.3(MPI):c.844+10A>G
NM_002435.3(MPI):c.844+14C>G
NM_002435.3(MPI):c.844+1G>A rs1394866894
NM_002435.3(MPI):c.844+2T>G rs2141206921
NM_002435.3(MPI):c.844+9C>G rs2141206935
NM_002435.3(MPI):c.845-10G>C rs748693066
NM_002435.3(MPI):c.845-14G>A
NM_002435.3(MPI):c.845-14_845-12del
NM_002435.3(MPI):c.845-15C>T
NM_002435.3(MPI):c.845-17G>T
NM_002435.3(MPI):c.845-18dup
NM_002435.3(MPI):c.845-1G>C
NM_002435.3(MPI):c.845-20C>T
NM_002435.3(MPI):c.845-2A>G rs2064828055
NM_002435.3(MPI):c.845-2del rs1555479341
NM_002435.3(MPI):c.845-4C>A
NM_002435.3(MPI):c.845-9T>C
NM_002435.3(MPI):c.84_88del (p.Arg29fs) rs753839890
NM_002435.3(MPI):c.864G>A (p.Ala288=) rs1017060960
NM_002435.3(MPI):c.880dup (p.Val294fs) rs1555479351
NM_002435.3(MPI):c.882T>G (p.Val294=) rs2141208380
NM_002435.3(MPI):c.894G>A (p.Leu298=)
NM_002435.3(MPI):c.914T>A (p.Val305Glu)
NM_002435.3(MPI):c.91T>C (p.Leu31=) rs765537697
NM_002435.3(MPI):c.920C>G (p.Thr307Ser)
NM_002435.3(MPI):c.936C>T (p.Leu312=) rs1362422803
NM_002435.3(MPI):c.939C>T (p.Ser313=)
NM_002435.3(MPI):c.945C>T (p.Thr315=)
NM_002435.3(MPI):c.948T>A (p.Pro316=) rs778221310
NM_002435.3(MPI):c.969C>G (p.Leu323=)
NM_002435.3(MPI):c.969_970del (p.Phe324fs)
NM_002435.3(MPI):c.984G>C (p.Arg328=)
NM_002435.3(MPI):c.984G>T (p.Arg328=)
NM_002435.3(MPI):c.987T>C (p.Ser329=)
NM_002435.3(MPI):c.989_1005dup (p.Ser336fs)
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
NM_002435.3(MPI):c.993A>G (p.Glu331=) rs2141208617
NM_002435.3(MPI):c.996C>T (p.Asp332=) rs1042715923
NM_002435.3(MPI):c.9_10del (p.Pro4fs)
NM_003664.4(AP3B1):c.1839_1842delTAGA
NM_003664.5(AP3B1):c.1025T>C (p.Leu342Ser)
NM_003664.5(AP3B1):c.1026A>G (p.Leu342=)
NM_003664.5(AP3B1):c.1030C>A (p.Arg344Ser) rs753341973
NM_003664.5(AP3B1):c.1035C>A (p.Ser345Arg) rs1744189442
NM_003664.5(AP3B1):c.1039A>G (p.Arg347Gly) rs774128940
NM_003664.5(AP3B1):c.1040+15T>G
NM_003664.5(AP3B1):c.1040+16A>T
NM_003664.5(AP3B1):c.1040+17T>G
NM_003664.5(AP3B1):c.1040+19T>C
NM_003664.5(AP3B1):c.1041-15T>A rs2112402058
NM_003664.5(AP3B1):c.1041-19A>G
NM_003664.5(AP3B1):c.1041-2A>G
NM_003664.5(AP3B1):c.1045G>T (p.Val349Leu)
NM_003664.5(AP3B1):c.1047G>A (p.Val349=)
NM_003664.5(AP3B1):c.1051T>G (p.Tyr351Asp)
NM_003664.5(AP3B1):c.105C>T (p.Gly35=)
NM_003664.5(AP3B1):c.1061T>A (p.Leu354Gln)
NM_003664.5(AP3B1):c.107T>C (p.Leu36Pro)
NM_003664.5(AP3B1):c.1080G>A (p.Met360Ile)
NM_003664.5(AP3B1):c.1088A>G (p.Gln363Arg)
NM_003664.5(AP3B1):c.1091_1092delinsAT (p.Arg364Asn)
NM_003664.5(AP3B1):c.1095+17C>G
NM_003664.5(AP3B1):c.1095+20G>T
NM_003664.5(AP3B1):c.1095+7A>G
NM_003664.5(AP3B1):c.1095+9G>A
NM_003664.5(AP3B1):c.1096-16T>C
NM_003664.5(AP3B1):c.1096-7A>T rs2112401625
NM_003664.5(AP3B1):c.1096-9G>A
NM_003664.5(AP3B1):c.1098G>C (p.Gly366=)
NM_003664.5(AP3B1):c.1101dup (p.Phe368fs) rs1744118616
NM_003664.5(AP3B1):c.110T>A (p.Phe37Tyr)
NM_003664.5(AP3B1):c.1111T>C (p.Tyr371His)
NM_003664.5(AP3B1):c.1125C>G (p.Phe375Leu) rs2112401517
NM_003664.5(AP3B1):c.1125C>T (p.Phe375=)
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile) rs757985695
NM_003664.5(AP3B1):c.1143T>C (p.Asp381=)
NM_003664.5(AP3B1):c.1167+11T>C rs2112401362
NM_003664.5(AP3B1):c.1167+1_1167+2dup rs2112401395
NM_003664.5(AP3B1):c.1167+8T>C
NM_003664.5(AP3B1):c.1168-12_1168-8del
NM_003664.5(AP3B1):c.1168-4A>G
NM_003664.5(AP3B1):c.1168-7A>G rs780180977
NM_003664.5(AP3B1):c.1180A>G (p.Thr394Ala)
NM_003664.5(AP3B1):c.1193A>G (p.Asn398Ser) rs759936403
NM_003664.5(AP3B1):c.1219C>A (p.Arg407=) rs768390608
NM_003664.5(AP3B1):c.1230+10C>T rs1580431334
NM_003664.5(AP3B1):c.1230+12G>A
NM_003664.5(AP3B1):c.1230+13T>C
NM_003664.5(AP3B1):c.1230+6T>C
NM_003664.5(AP3B1):c.1230G>C (p.Gln410His) rs2112377230
NM_003664.5(AP3B1):c.1231-11A>G rs1743450274
NM_003664.5(AP3B1):c.1231-9A>G
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
NM_003664.5(AP3B1):c.1241A>C (p.Lys414Thr) rs778910104
NM_003664.5(AP3B1):c.1245C>T (p.Ser415=)
NM_003664.5(AP3B1):c.1255C>T (p.Gln419Ter)
NM_003664.5(AP3B1):c.1260T>C (p.Phe420=)
NM_003664.5(AP3B1):c.1264G>A (p.Ala422Thr)
NM_003664.5(AP3B1):c.128+20T>C
NM_003664.5(AP3B1):c.128+4A>G
NM_003664.5(AP3B1):c.128+8G>A
NM_003664.5(AP3B1):c.1286del (p.Gly429fs)
NM_003664.5(AP3B1):c.129-14C>T rs904956491
NM_003664.5(AP3B1):c.129-14_129-10del rs982597895
NM_003664.5(AP3B1):c.129-14_129-12del
NM_003664.5(AP3B1):c.129-18del
NM_003664.5(AP3B1):c.129-18dup rs201281724
NM_003664.5(AP3B1):c.129-19T>C
NM_003664.5(AP3B1):c.129-1G>A
NM_003664.5(AP3B1):c.129-9_129-8del rs2112562563
NM_003664.5(AP3B1):c.1292G>A (p.Cys431Tyr) rs751127592
NM_003664.5(AP3B1):c.1297A>G (p.Thr433Ala)
NM_003664.5(AP3B1):c.1301A>C (p.Asn434Thr) rs1289085829
NM_003664.5(AP3B1):c.1301A>G (p.Asn434Ser)
NM_003664.5(AP3B1):c.1302C>T (p.Asn434=)
NM_003664.5(AP3B1):c.1323G>A (p.Thr441=)
NM_003664.5(AP3B1):c.1342T>C (p.Cys448Arg)
NM_003664.5(AP3B1):c.1347G>A (p.Leu449=)
NM_003664.5(AP3B1):c.1347G>C (p.Leu449=)
NM_003664.5(AP3B1):c.1350G>C (p.Leu450=)
NM_003664.5(AP3B1):c.1356C>T (p.Asn452=)
NM_003664.5(AP3B1):c.1363+10C>T rs2112370696
NM_003664.5(AP3B1):c.1364-15T>G
NM_003664.5(AP3B1):c.1364-2A>G rs2112357253
NM_003664.5(AP3B1):c.1364-4del rs1188997693
NM_003664.5(AP3B1):c.1367T>A (p.Ile456Lys)
NM_003664.5(AP3B1):c.1379A>T (p.Glu460Val)
NM_003664.5(AP3B1):c.1387GTT[1] (p.Val464del)
NM_003664.5(AP3B1):c.1390G>C (p.Val464Leu)
NM_003664.5(AP3B1):c.1395A>G (p.Ile465Met)
NM_003664.5(AP3B1):c.1408del (p.Gln470fs)
NM_003664.5(AP3B1):c.1411A>C (p.Met471Leu) rs556638927
NM_003664.5(AP3B1):c.1427A>T (p.His476Leu)
NM_003664.5(AP3B1):c.1435A>C (p.Ile479Leu) rs2112357067
NM_003664.5(AP3B1):c.1436T>C (p.Ile479Thr) rs757746058
NM_003664.5(AP3B1):c.1438A>G (p.Ile480Val)
NM_003664.5(AP3B1):c.1452C>T (p.Ala484=)
NM_003664.5(AP3B1):c.1473+15A>C
NM_003664.5(AP3B1):c.1473+16G>A
NM_003664.5(AP3B1):c.1474-18A>T
NM_003664.5(AP3B1):c.1491A>G (p.Ala497=) rs2112327078
NM_003664.5(AP3B1):c.1495A>G (p.Ile499Val)
NM_003664.5(AP3B1):c.1509T>A (p.Ile503=) rs1480759584
NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.5(AP3B1):c.1526G>A (p.Arg509Gln) rs193920974
NM_003664.5(AP3B1):c.1531C>T (p.Pro511Ser)
NM_003664.5(AP3B1):c.1544C>G (p.Pro515Arg) rs1753134356
NM_003664.5(AP3B1):c.1550T>C (p.Val517Ala) rs2112326945
NM_003664.5(AP3B1):c.1562T>C (p.Met521Thr)
NM_003664.5(AP3B1):c.1580G>A (p.Ser527Asn) rs779511911
NM_003664.5(AP3B1):c.1584A>G (p.Glu528=)
NM_003664.5(AP3B1):c.1589A>G (p.Asp530Gly)
NM_003664.5(AP3B1):c.1596A>G (p.Val532=)
NM_003664.5(AP3B1):c.15T>C (p.Ser5=)
NM_003664.5(AP3B1):c.1605G>A (p.Gln535=) rs200769344
NM_003664.5(AP3B1):c.1608A>G (p.Ile536Met)
NM_003664.5(AP3B1):c.1614T>C (p.Asn538=)
NM_003664.5(AP3B1):c.1619dup (p.Ala541fs) rs1753129765
NM_003664.5(AP3B1):c.1627T>C (p.Leu543=)
NM_003664.5(AP3B1):c.1635A>C (p.Leu545Phe)
NM_003664.5(AP3B1):c.1650+12del rs563512609
NM_003664.5(AP3B1):c.1650+15T>A
NM_003664.5(AP3B1):c.1651-11T>C
NM_003664.5(AP3B1):c.1651-14dup rs1333771177
NM_003664.5(AP3B1):c.1651-1G>A
NM_003664.5(AP3B1):c.1651-9T>C rs2112301377
NM_003664.5(AP3B1):c.1675T>A (p.Leu559Ile) rs770281960
NM_003664.5(AP3B1):c.1675T>C (p.Leu559=)
NM_003664.5(AP3B1):c.1702T>C (p.Tyr568His) rs1752591935
NM_003664.5(AP3B1):c.1707C>T (p.Asp569=)
NM_003664.5(AP3B1):c.1717C>T (p.Arg573Cys)
NM_003664.5(AP3B1):c.1721C>T (p.Thr574Ile)
NM_003664.5(AP3B1):c.1734G>A (p.Arg578=)
NM_003664.5(AP3B1):c.1747C>G (p.Pro583Ala) rs1580385068
NM_003664.5(AP3B1):c.1754T>C (p.Val585Ala) rs6453373
NM_003664.5(AP3B1):c.1756A>G (p.Lys586Glu)
NM_003664.5(AP3B1):c.1762G>A (p.Gly588Arg)
NM_003664.5(AP3B1):c.1764A>G (p.Gly588=)
NM_003664.5(AP3B1):c.1798G>C (p.Ala600Pro)
NM_003664.5(AP3B1):c.1798G>T (p.Ala600Ser) rs149263390
NM_003664.5(AP3B1):c.1811C>T (p.Ala604Val) rs2112300913
NM_003664.5(AP3B1):c.1812A>G (p.Ala604=)
NM_003664.5(AP3B1):c.1816C>T (p.Leu606=)
NM_003664.5(AP3B1):c.1837+2T>C rs2112300864
NM_003664.5(AP3B1):c.1837+7T>C
NM_003664.5(AP3B1):c.1838-13C>G
NM_003664.5(AP3B1):c.1838-16T>C
NM_003664.5(AP3B1):c.1838-2_1838-1insAAA rs1290648194
NM_003664.5(AP3B1):c.1840A>G (p.Arg614Gly) rs769757592
NM_003664.5(AP3B1):c.1853A>G (p.Gln618Arg) rs2112298805
NM_003664.5(AP3B1):c.1868C>T (p.Ser623Phe) rs755372821
NM_003664.5(AP3B1):c.1873A>G (p.Thr625Ala) rs199908785
NM_003664.5(AP3B1):c.1874C>G (p.Thr625Ser)
NM_003664.5(AP3B1):c.1874C>T (p.Thr625Ile)
NM_003664.5(AP3B1):c.1878C>A (p.Leu626=)
NM_003664.5(AP3B1):c.1878C>T (p.Leu626=)
NM_003664.5(AP3B1):c.1882A>G (p.Ile628Val)
NM_003664.5(AP3B1):c.1892C>T (p.Thr631Ile) rs1752538898
NM_003664.5(AP3B1):c.1907T>G (p.Leu636Ter)
NM_003664.5(AP3B1):c.1914T>C (p.Asn638=)
NM_003664.5(AP3B1):c.1929G>T (p.Ala643=)
NM_003664.5(AP3B1):c.1930_1937del (p.Pro644fs)
NM_003664.5(AP3B1):c.1932C>A (p.Pro644=)
NM_003664.5(AP3B1):c.1935C>T (p.Asp645=)
NM_003664.5(AP3B1):c.1937C>T (p.Pro646Leu)
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.1947A>T (p.Arg649=)
NM_003664.5(AP3B1):c.1951G>C (p.Val651Leu) rs755219130
NM_003664.5(AP3B1):c.1968+8del rs2112298486
NM_003664.5(AP3B1):c.1969-15T>C
NM_003664.5(AP3B1):c.1969-17T>C
NM_003664.5(AP3B1):c.1969-20T>A rs1394988514
NM_003664.5(AP3B1):c.1969-20T>C rs1394988514
NM_003664.5(AP3B1):c.1973_1983dup (p.Pro662fs)
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.5(AP3B1):c.1988C>T (p.Ala663Val) rs2112265534
NM_003664.5(AP3B1):c.2001G>A (p.Lys667=)
NM_003664.5(AP3B1):c.2009A>C (p.Asn670Thr) rs757825991
NM_003664.5(AP3B1):c.2009A>G (p.Asn670Ser)
NM_003664.5(AP3B1):c.2010T>C (p.Asn670=)
NM_003664.5(AP3B1):c.2015C>G (p.Ala672Gly) rs2112265444
NM_003664.5(AP3B1):c.201T>A (p.Val67=)
NM_003664.5(AP3B1):c.2027A>G (p.Tyr676Cys) rs759438615
NM_003664.5(AP3B1):c.2034A>G (p.Glu678=) rs766320781
NM_003664.5(AP3B1):c.204+13C>T
NM_003664.5(AP3B1):c.204+14T>A
NM_003664.5(AP3B1):c.205-10del
NM_003664.5(AP3B1):c.205-12T>C
NM_003664.5(AP3B1):c.205-20C>T
NM_003664.5(AP3B1):c.2066G>T (p.Ser689Ile)
NM_003664.5(AP3B1):c.2077+18T>C
NM_003664.5(AP3B1):c.2078-11C>T
NM_003664.5(AP3B1):c.2078-14G>A
NM_003664.5(AP3B1):c.2087C>G (p.Ser696Cys)
NM_003664.5(AP3B1):c.2088T>C (p.Ser696=) rs200618231
NM_003664.5(AP3B1):c.2095G>A (p.Glu699Lys)
NM_003664.5(AP3B1):c.2100T>C (p.Ser700=)
NM_003664.5(AP3B1):c.2112C>T (p.Gly704=) rs35976098
NM_003664.5(AP3B1):c.211G>A (p.Ala71Thr)
NM_003664.5(AP3B1):c.2122_2123delinsTT (p.Glu708Leu) rs2112260341
NM_003664.5(AP3B1):c.2129G>A (p.Gly710Glu) rs777032367
NM_003664.5(AP3B1):c.2129G>C (p.Gly710Ala) rs777032367
NM_003664.5(AP3B1):c.2129G>T (p.Gly710Val) rs777032367
NM_003664.5(AP3B1):c.2131G>A (p.Asp711Asn)
NM_003664.5(AP3B1):c.2138A>G (p.Asn713Ser)
NM_003664.5(AP3B1):c.213A>G (p.Ala71=)
NM_003664.5(AP3B1):c.2146A>C (p.Ser716Arg) rs1365271615
NM_003664.5(AP3B1):c.2148C>T (p.Ser716=)
NM_003664.5(AP3B1):c.2160C>T (p.Ser720=)
NM_003664.5(AP3B1):c.2162C>G (p.Ser721Cys) rs2112260253
NM_003664.5(AP3B1):c.2166T>C (p.Ser722=)
NM_003664.5(AP3B1):c.2190G>A (p.Arg730=) rs2112260185
NM_003664.5(AP3B1):c.2198G>T (p.Gly733Val)
NM_003664.5(AP3B1):c.2202A>C (p.Leu734=)
NM_003664.5(AP3B1):c.2218G>A (p.Ala740Thr)
NM_003664.5(AP3B1):c.2220C>T (p.Ala740=)
NM_003664.5(AP3B1):c.2250-6G>A
NM_003664.5(AP3B1):c.2257G>A (p.Glu753Lys)
NM_003664.5(AP3B1):c.2270A>G (p.Lys757Arg) rs745461947
NM_003664.5(AP3B1):c.2279A>G (p.Glu760Gly) rs2112252523
NM_003664.5(AP3B1):c.2322A>G (p.Ser774=)
NM_003664.5(AP3B1):c.2324T>C (p.Ile775Thr) rs62001050
NM_003664.5(AP3B1):c.2326G>A (p.Glu776Lys)
NM_003664.5(AP3B1):c.2331C>T (p.Asp777=)
NM_003664.5(AP3B1):c.2332A>C (p.Ser778Arg) rs1334114879
NM_003664.5(AP3B1):c.2333G>A (p.Ser778Asn)
NM_003664.5(AP3B1):c.2336C>T (p.Ser779Phe)
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn) rs532221135
NM_003664.5(AP3B1):c.2353G>C (p.Glu785Gln)
NM_003664.5(AP3B1):c.236T>C (p.Leu79Pro) rs1747105618
NM_003664.5(AP3B1):c.237_238del (p.Phe80fs) rs2112518616
NM_003664.5(AP3B1):c.2382C>T (p.Ser794=) rs920648897
NM_003664.5(AP3B1):c.2389G>A (p.Val797Ile) rs770603726
NM_003664.5(AP3B1):c.2397+7del
NM_003664.5(AP3B1):c.2398-12G>A
NM_003664.5(AP3B1):c.2398-12del
NM_003664.5(AP3B1):c.2398-16A>G
NM_003664.5(AP3B1):c.2398-18A>G
NM_003664.5(AP3B1):c.2401A>G (p.Lys801Glu)
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.2411A>C (p.Lys804Thr) rs1028498771
NM_003664.5(AP3B1):c.2427A>G (p.Arg809=)
NM_003664.5(AP3B1):c.2433T>C (p.Pro811=) rs2112233233
NM_003664.5(AP3B1):c.2438C>G (p.Thr813Ser)
NM_003664.5(AP3B1):c.2452C>G (p.Leu818Val) rs1751097725
NM_003664.5(AP3B1):c.2454T>G (p.Leu818=)
NM_003664.5(AP3B1):c.2455C>T (p.Leu819=)
NM_003664.5(AP3B1):c.2470+9dup
NM_003664.5(AP3B1):c.2471-16G>A rs760243722
NM_003664.5(AP3B1):c.2471-16G>C
NM_003664.5(AP3B1):c.2471-20A>G
NM_003664.5(AP3B1):c.2474A>G (p.Asn825Ser) rs1580331287
NM_003664.5(AP3B1):c.2478A>G (p.Pro826=)
NM_003664.5(AP3B1):c.2490A>G (p.Pro830=)
NM_003664.5(AP3B1):c.2492T>G (p.Val831Gly)
NM_003664.5(AP3B1):c.2513T>G (p.Leu838Arg)
NM_003664.5(AP3B1):c.2521A>G (p.Ser841Gly)
NM_003664.5(AP3B1):c.2531C>T (p.Ala844Val)
NM_003664.5(AP3B1):c.2542G>A (p.Gly848Ser)
NM_003664.5(AP3B1):c.2548C>A (p.His850Asn) rs201936976
NM_003664.5(AP3B1):c.2567C>T (p.Ser856Leu)
NM_003664.5(AP3B1):c.2568A>G (p.Ser856=)
NM_003664.5(AP3B1):c.2573T>A (p.Ile858Asn)
NM_003664.5(AP3B1):c.2577+9T>C
NM_003664.5(AP3B1):c.2578-7G>A
NM_003664.5(AP3B1):c.2585C>A (p.Thr862Asn)
NM_003664.5(AP3B1):c.2601A>G (p.Pro867=)
NM_003664.5(AP3B1):c.2602A>G (p.Thr868Ala)
NM_003664.5(AP3B1):c.2603C>T (p.Thr868Met) rs1398038084
NM_003664.5(AP3B1):c.2604G>A (p.Thr868=)
NM_003664.5(AP3B1):c.2607A>G (p.Lys869=)
NM_003664.5(AP3B1):c.2629A>G (p.Met877Val)
NM_003664.5(AP3B1):c.262G>C (p.Ala88Pro)
NM_003664.5(AP3B1):c.2632A>G (p.Ser878Gly) rs2112100501
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003664.5(AP3B1):c.2641G>C (p.Gly881Arg) rs2112100469
NM_003664.5(AP3B1):c.2656T>C (p.Tyr886His) rs2112100439
NM_003664.5(AP3B1):c.265A>G (p.Ser89Gly) rs748322548
NM_003664.5(AP3B1):c.2673G>A (p.Gln891=) rs770455413
NM_003664.5(AP3B1):c.2673G>C (p.Gln891His) rs770455413
NM_003664.5(AP3B1):c.2674C>A (p.Pro892Thr) rs2112100401
NM_003664.5(AP3B1):c.2675_2679del (p.Pro892fs)
NM_003664.5(AP3B1):c.2683T>A (p.Phe895Ile) rs1747942141
NM_003664.5(AP3B1):c.2694_2712del (p.Met899fs) rs2112100310
NM_003664.5(AP3B1):c.2695_2696insATC (p.Met899delinsAsnLeu)
NM_003664.5(AP3B1):c.26A>G (p.Asn9Ser) rs868369063
NM_003664.5(AP3B1):c.2715A>G (p.Thr905=)
NM_003664.5(AP3B1):c.2725A>G (p.Thr909Ala)
NM_003664.5(AP3B1):c.2726C>T (p.Thr909Ile) rs1747940185
NM_003664.5(AP3B1):c.2730T>G (p.Thr910=)
NM_003664.5(AP3B1):c.2734C>A (p.Arg912=)
NM_003664.5(AP3B1):c.2734C>T (p.Arg912Ter)
NM_003664.5(AP3B1):c.2738del (p.Lys913fs) rs2112100217
NM_003664.5(AP3B1):c.2741T>C (p.Ile914Thr)
NM_003664.5(AP3B1):c.2757del (p.Ile919fs) rs2112100189
NM_003664.5(AP3B1):c.2759G>A (p.Gly920Glu)
NM_003664.5(AP3B1):c.2765A>G (p.Lys922Arg) rs1554059568
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.5(AP3B1):c.2769A>G (p.Lys923=) rs201179527
NM_003664.5(AP3B1):c.2772T>A (p.Leu924=)
NM_003664.5(AP3B1):c.2780G>A (p.Gly927Asp) rs866308304
NM_003664.5(AP3B1):c.2783T>C (p.Met928Thr)
NM_003664.5(AP3B1):c.279+18A>G
NM_003664.5(AP3B1):c.279+19A>G rs756610617
NM_003664.5(AP3B1):c.279+9T>A
NM_003664.5(AP3B1):c.2793T>C (p.His931=) rs2112100041
NM_003664.5(AP3B1):c.2796T>C (p.Val932=)
NM_003664.5(AP3B1):c.280-14_280-13dup rs5868908
NM_003664.5(AP3B1):c.280-16G>T
NM_003664.5(AP3B1):c.280-4_280-3insG
NM_003664.5(AP3B1):c.280-5A>T
NM_003664.5(AP3B1):c.280-6T>A
NM_003664.5(AP3B1):c.280-6del rs5868908
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_003664.5(AP3B1):c.2801del (p.Asn934fs) rs2112100020
NM_003664.5(AP3B1):c.2806A>G (p.Ile936Val)
NM_003664.5(AP3B1):c.2809+15T>C
NM_003664.5(AP3B1):c.2809+20T>G rs2112099938
NM_003664.5(AP3B1):c.2809+8T>C
NM_003664.5(AP3B1):c.2810-10T>C
NM_003664.5(AP3B1):c.2810-7T>A rs1747713195
NM_003664.5(AP3B1):c.2810-9A>G
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro) rs1002296977
NM_003664.5(AP3B1):c.2823T>C (p.Pro941=)
NM_003664.5(AP3B1):c.2832C>T (p.Ser944=)
NM_003664.5(AP3B1):c.2844A>T (p.Ser948=)
NM_003664.5(AP3B1):c.2856C>T (p.Asp952=) rs912620993
NM_003664.5(AP3B1):c.2891T>C (p.Leu964Ser)
NM_003664.5(AP3B1):c.2893T>C (p.Cys965Arg) rs2112091461
NM_003664.5(AP3B1):c.2894+10A>G
NM_003664.5(AP3B1):c.2894+6T>C
NM_003664.5(AP3B1):c.2895-12G>T
NM_003664.5(AP3B1):c.2895-16G>A
NM_003664.5(AP3B1):c.2899A>G (p.Lys967Glu)
NM_003664.5(AP3B1):c.28G>A (p.Glu10Lys) rs1749672035
NM_003664.5(AP3B1):c.2907T>C (p.Asp969=)
NM_003664.5(AP3B1):c.2932C>T (p.Pro978Ser) rs1580247322
NM_003664.5(AP3B1):c.2947C>A (p.Leu983Ile) rs745653147
NM_003664.5(AP3B1):c.2963T>C (p.Met988Thr)
NM_003664.5(AP3B1):c.2973A>G (p.Lys991=)
NM_003664.5(AP3B1):c.2983A>G (p.Lys995Glu)
NM_003664.5(AP3B1):c.2993-10_2993-7del
NM_003664.5(AP3B1):c.2993-12T>C
NM_003664.5(AP3B1):c.2993-14T>G
NM_003664.5(AP3B1):c.2993-3C>T rs1746824105
NM_003664.5(AP3B1):c.2993-5T>C
NM_003664.5(AP3B1):c.2994A>T (p.Gly998=)
NM_003664.5(AP3B1):c.3000A>G (p.Leu1000=)
NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323
NM_003664.5(AP3B1):c.3038C>T (p.Ala1013Val)
NM_003664.5(AP3B1):c.3060T>C (p.Ser1020=)
NM_003664.5(AP3B1):c.3062T>C (p.Val1021Ala) rs781365567
NM_003664.5(AP3B1):c.3064A>G (p.Ile1022Val)
NM_003664.5(AP3B1):c.3075G>A (p.Lys1025=)
NM_003664.5(AP3B1):c.3092A>G (p.Asn1031Ser)
NM_003664.5(AP3B1):c.310C>G (p.Arg104Gly) rs1746480237
NM_003664.5(AP3B1):c.3117G>C (p.Gln1039His)
NM_003664.5(AP3B1):c.3118G>C (p.Asp1040His) rs764848036
NM_003664.5(AP3B1):c.311G>T (p.Arg104Leu)
NM_003664.5(AP3B1):c.3123T>C (p.Asn1041=) rs1561354415
NM_003664.5(AP3B1):c.3128A>G (p.His1043Arg) rs2112054033
NM_003664.5(AP3B1):c.3131+18C>T
NM_003664.5(AP3B1):c.3131+19G>C rs769957838
NM_003664.5(AP3B1):c.3132-16C>T
NM_003664.5(AP3B1):c.3132-5T>C rs2112028477
NM_003664.5(AP3B1):c.3159G>A (p.Gly1053=)
NM_003664.5(AP3B1):c.3163T>C (p.Leu1055=) rs748447113
NM_003664.5(AP3B1):c.3171A>G (p.Leu1057=)
NM_003664.5(AP3B1):c.3188A>G (p.Lys1063Arg)
NM_003664.5(AP3B1):c.3195C>G (p.Gly1065=) rs751258161
NM_003664.5(AP3B1):c.3201A>T (p.Thr1067=)
NM_003664.5(AP3B1):c.3204C>G (p.Ala1068=)
NM_003664.5(AP3B1):c.3237T>A (p.Ile1079=) rs1192574805
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys) rs1397315776
NM_003664.5(AP3B1):c.3264G>A (p.Lys1088=)
NM_003664.5(AP3B1):c.3265C>G (p.Pro1089Ala) rs137901104
NM_003664.5(AP3B1):c.3282G>A (p.Gly1094=)
NM_003664.5(AP3B1):c.328C>G (p.Gln110Glu)
NM_003664.5(AP3B1):c.338C>T (p.Ala113Val)
NM_003664.5(AP3B1):c.349A>G (p.Ile117Val)
NM_003664.5(AP3B1):c.34T>C (p.Ser12Pro) rs2112607296
NM_003664.5(AP3B1):c.353G>A (p.Ser118Asn) rs1746477844
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
NM_003664.5(AP3B1):c.375+11G>T
NM_003664.5(AP3B1):c.376-11A>C
NM_003664.5(AP3B1):c.376-13G>A rs1185982935
NM_003664.5(AP3B1):c.387A>T (p.Gln129His) rs1229682546
NM_003664.5(AP3B1):c.39A>G (p.Gly13=) rs1488407842
NM_003664.5(AP3B1):c.403G>A (p.Ala135Thr) rs1270734050
NM_003664.5(AP3B1):c.415C>T (p.Leu139=)
NM_003664.5(AP3B1):c.425_427dup (p.Ile142dup) rs759424724
NM_003664.5(AP3B1):c.439A>G (p.Ile147Val) rs2112494710
NM_003664.5(AP3B1):c.454A>C (p.Met152Leu) rs2112494693
NM_003664.5(AP3B1):c.482A>G (p.Asp161Gly)
NM_003664.5(AP3B1):c.513C>G (p.Ala171=) rs2112494604
NM_003664.5(AP3B1):c.529T>C (p.Leu177=)
NM_003664.5(AP3B1):c.536+8C>A
NM_003664.5(AP3B1):c.544C>T (p.Pro182Ser)
NM_003664.5(AP3B1):c.547G>C (p.Glu183Gln)
NM_003664.5(AP3B1):c.566T>C (p.Ile189Thr)
NM_003664.5(AP3B1):c.570A>G (p.Glu190=) rs2112491939
NM_003664.5(AP3B1):c.603+16T>G rs2112491852
NM_003664.5(AP3B1):c.604-12T>A
NM_003664.5(AP3B1):c.604-17A>G
NM_003664.5(AP3B1):c.624dup (p.Met209fs)
NM_003664.5(AP3B1):c.63T>C (p.Gly21=) rs776252237
NM_003664.5(AP3B1):c.647C>T (p.Pro216Leu) rs762212366
NM_003664.5(AP3B1):c.649G>A (p.Asp217Asn)
NM_003664.5(AP3B1):c.65A>T (p.Gln22Leu) rs1302695682
NM_003664.5(AP3B1):c.661C>T (p.Leu221=)
NM_003664.5(AP3B1):c.681C>G (p.Arg227=)
NM_003664.5(AP3B1):c.702G>T (p.Val234=) rs1745952689
NM_003664.5(AP3B1):c.705T>C (p.Asp235=) rs779084730
NM_003664.5(AP3B1):c.716G>T (p.Trp239Leu) rs869312837
NM_003664.5(AP3B1):c.723G>A (p.Gln241=)
NM_003664.5(AP3B1):c.725T>C (p.Val242Ala) rs1580498432
NM_003664.5(AP3B1):c.730A>G (p.Ile244Val)
NM_003664.5(AP3B1):c.734T>C (p.Ile245Thr) rs753890496
NM_003664.5(AP3B1):c.738C>T (p.His246=) rs912124016
NM_003664.5(AP3B1):c.74C>T (p.Thr25Ile) rs2112607227
NM_003664.5(AP3B1):c.750A>G (p.Arg250=)
NM_003664.5(AP3B1):c.753T>G (p.Tyr251Ter)
NM_003664.5(AP3B1):c.754G>A (p.Ala252Thr)
NM_003664.5(AP3B1):c.757C>T (p.Arg253Trp)
NM_003664.5(AP3B1):c.759G>A (p.Arg253=)
NM_003664.5(AP3B1):c.764A>T (p.Gln255Leu) rs1260956613
NM_003664.5(AP3B1):c.778del (p.Trp260fs)
NM_003664.5(AP3B1):c.779G>A (p.Trp260Ter) rs1745947620
NM_003664.5(AP3B1):c.786+15G>A
NM_003664.5(AP3B1):c.786+1G>A
NM_003664.5(AP3B1):c.787G>A (p.Gly263Ser) rs1044368703
NM_003664.5(AP3B1):c.788G>A (p.Gly263Asp) rs1744376789
NM_003664.5(AP3B1):c.798A>G (p.Leu266=)
NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly) rs147761913
NM_003664.5(AP3B1):c.835G>A (p.Asp279Asn) rs751922416
NM_003664.5(AP3B1):c.836A>T (p.Asp279Val) rs1744372518
NM_003664.5(AP3B1):c.841A>G (p.Lys281Glu) rs1437339620
NM_003664.5(AP3B1):c.84T>A (p.Ile28=)
NM_003664.5(AP3B1):c.86C>T (p.Ser29Phe)
NM_003664.5(AP3B1):c.878T>C (p.Met293Thr)
NM_003664.5(AP3B1):c.890A>G (p.His297Arg)
NM_003664.5(AP3B1):c.890A>T (p.His297Leu) rs1744369394
NM_003664.5(AP3B1):c.894A>G (p.Arg298=) rs1580453466
NM_003664.5(AP3B1):c.8G>C (p.Ser3Thr)
NM_003664.5(AP3B1):c.908A>C (p.Asn303Thr) rs2112414100
NM_003664.5(AP3B1):c.915G>A (p.Lys305=) rs751927249
NM_003664.5(AP3B1):c.916C>T (p.Pro306Ser) rs1456578906
NM_003664.5(AP3B1):c.938C>A (p.Ala313Asp)
NM_003664.5(AP3B1):c.942+17A>T
NM_003664.5(AP3B1):c.942+8A>G
NM_003664.5(AP3B1):c.943-9A>G rs776758618
NM_003664.5(AP3B1):c.943G>A (p.Val315Met)
NM_003664.5(AP3B1):c.946G>A (p.Val316Ile) rs1744194052
NM_003664.5(AP3B1):c.957T>G (p.Val319=) rs2112405584
NM_003664.5(AP3B1):c.966G>A (p.Leu322=)
NM_003664.5(AP3B1):c.973C>T (p.His325Tyr)
NM_003664.5(AP3B1):c.975C>T (p.His325=) rs2112405548
NM_003664.5(AP3B1):c.985A>G (p.Lys329Glu) rs2112405535
NM_003664.5(AP3B1):c.994G>T (p.Ala332Ser) rs2112405528
NM_003664.5(AP3B1):c.999C>T (p.Gly333=)
NM_003764.4(STX11):c.100G>A (p.Val34Met)
NM_003764.4(STX11):c.111G>C (p.Thr37=)
NM_003764.4(STX11):c.115C>T (p.His39Tyr) rs1018799133
NM_003764.4(STX11):c.11G>A (p.Arg4Gln) rs375610231
NM_003764.4(STX11):c.11G>T (p.Arg4Leu) rs375610231
NM_003764.4(STX11):c.120C>T (p.Ile40=)
NM_003764.4(STX11):c.121C>T (p.Leu41=)
NM_003764.4(STX11):c.122T>C (p.Leu41Pro)
NM_003764.4(STX11):c.127_133del (p.Ser43fs)
NM_003764.4(STX11):c.130C>T (p.Leu44=)
NM_003764.4(STX11):c.136C>G (p.Arg46Gly) rs1394376432
NM_003764.4(STX11):c.13C>T (p.Leu5=) rs1802043754
NM_003764.4(STX11):c.141C>T (p.Asp47=) rs752790166
NM_003764.4(STX11):c.148G>A (p.Asp50Asn)
NM_003764.4(STX11):c.156G>A (p.Gln52=)
NM_003764.4(STX11):c.158A>G (p.Asp53Gly)
NM_003764.4(STX11):c.164A>G (p.Asn55Ser) rs374584215
NM_003764.4(STX11):c.172C>T (p.Leu58=)
NM_003764.4(STX11):c.174G>A (p.Leu58=)
NM_003764.4(STX11):c.174G>C (p.Leu58=)
NM_003764.4(STX11):c.17C>T (p.Ala6Val) rs1802044231
NM_003764.4(STX11):c.180C>A (p.Ala60=)
NM_003764.4(STX11):c.180C>T (p.Ala60=) rs1222437687
NM_003764.4(STX11):c.181G>C (p.Asp61His) rs1267402375
NM_003764.4(STX11):c.184G>A (p.Val62Met) rs776227989
NM_003764.4(STX11):c.189G>A (p.Lys63=)
NM_003764.4(STX11):c.191G>A (p.Arg64Gln)
NM_003764.4(STX11):c.192G>T (p.Arg64=)
NM_003764.4(STX11):c.193C>T (p.Leu65=) rs780525714
NM_003764.4(STX11):c.204G>A (p.Gln68=)
NM_003764.4(STX11):c.207C>G (p.Asn69Lys)
NM_003764.4(STX11):c.221C>T (p.Thr74Met) rs540150447
NM_003764.4(STX11):c.222G>A (p.Thr74=)
NM_003764.4(STX11):c.229C>A (p.Arg77=) rs778807808
NM_003764.4(STX11):c.243C>T (p.Ser81=)
NM_003764.4(STX11):c.246C>T (p.Ile82=)
NM_003764.4(STX11):c.247A>G (p.Lys83Glu)
NM_003764.4(STX11):c.24_26del (p.Leu9del) rs760492745
NM_003764.4(STX11):c.255C>T (p.Asp85=) rs2128756929
NM_003764.4(STX11):c.258C>T (p.Thr86=) rs2128756931
NM_003764.4(STX11):c.260A>C (p.Asn87Thr) rs771634798
NM_003764.4(STX11):c.264C>T (p.Ser88=) rs774895225
NM_003764.4(STX11):c.267C>T (p.Ile89=)
NM_003764.4(STX11):c.268_276del (p.Ala90_Ala92del) rs2128756943
NM_003764.4(STX11):c.26T>C (p.Leu9Pro) rs34470310
NM_003764.4(STX11):c.286C>T (p.Arg96Trp)
NM_003764.4(STX11):c.289G>C (p.Gly97Arg) rs1242174048
NM_003764.4(STX11):c.291C>T (p.Gly97=)
NM_003764.4(STX11):c.292G>A (p.Glu98Lys) rs1449481982
NM_003764.4(STX11):c.303C>T (p.His101=)
NM_003764.4(STX11):c.324G>A (p.Lys108=)
NM_003764.4(STX11):c.325G>A (p.Glu109Lys)
NM_003764.4(STX11):c.327G>A (p.Glu109=)
NM_003764.4(STX11):c.334G>C (p.Glu112Gln)
NM_003764.4(STX11):c.334G>T (p.Glu112Ter)
NM_003764.4(STX11):c.336G>A (p.Glu112=)
NM_003764.4(STX11):c.33G>A (p.Leu11=)
NM_003764.4(STX11):c.342T>A (p.Ala114=)
NM_003764.4(STX11):c.343G>A (p.Glu115Lys)
NM_003764.4(STX11):c.34T>G (p.Ser12Ala) rs1802044955
NM_003764.4(STX11):c.354C>T (p.His118=)
NM_003764.4(STX11):c.355G>T (p.Gly119Cys) rs866658690
NM_003764.4(STX11):c.357C>T (p.Gly119=)
NM_003764.4(STX11):c.359C>G (p.Pro120Arg)
NM_003764.4(STX11):c.360G>A (p.Pro120=)
NM_003764.4(STX11):c.363C>T (p.His121=)
NM_003764.4(STX11):c.366G>C (p.Ser122=)
NM_003764.4(STX11):c.369A>G (p.Ala123=) rs763493074
NM_003764.4(STX11):c.36C>T (p.Ser12=)
NM_003764.4(STX11):c.373G>A (p.Ala125Thr) rs2128757071
NM_003764.4(STX11):c.384G>C (p.Ser128=)
NM_003764.4(STX11):c.385C>T (p.Arg129Trp)
NM_003764.4(STX11):c.386G>C (p.Arg129Pro)
NM_003764.4(STX11):c.391C>T (p.Gln131Ter) rs794729649
NM_003764.4(STX11):c.392A>G (p.Gln131Arg) rs367778856
NM_003764.4(STX11):c.392A>T (p.Gln131Leu) rs367778856
NM_003764.4(STX11):c.397A>G (p.Asn133Asp)
NM_003764.4(STX11):c.39G>A (p.Lys13=)
NM_003764.4(STX11):c.402G>A (p.Ala134=)
NM_003764.4(STX11):c.404T>C (p.Leu135Pro) rs759002869
NM_003764.4(STX11):c.405C>A (p.Leu135=)
NM_003764.4(STX11):c.405C>T (p.Leu135=)
NM_003764.4(STX11):c.423C>A (p.Arg141=) rs768985732
NM_003764.4(STX11):c.423C>G (p.Arg141=) rs768985732
NM_003764.4(STX11):c.426C>A (p.Ala142=)
NM_003764.4(STX11):c.432C>T (p.His144=)
NM_003764.4(STX11):c.433G>C (p.Asp145His) rs527278192
NM_003764.4(STX11):c.435C>T (p.Asp145=) rs1802066250
NM_003764.4(STX11):c.438C>T (p.Tyr146=)
NM_003764.4(STX11):c.440A>C (p.Asn147Thr)
NM_003764.4(STX11):c.444G>T (p.Gln148His) rs1281896626
NM_003764.4(STX11):c.447C>T (p.Ala149=)
NM_003764.4(STX11):c.458_459delinsCC (p.Gln153Pro)
NM_003764.4(STX11):c.459G>A (p.Gln153=)
NM_003764.4(STX11):c.461G>A (p.Arg154His) rs1802067725
NM_003764.4(STX11):c.483C>A (p.Ile161=)
NM_003764.4(STX11):c.484C>T (p.Gln162Ter)
NM_003764.4(STX11):c.489C>T (p.Arg163=)
NM_003764.4(STX11):c.490C>T (p.Gln164Ter)
NM_003764.4(STX11):c.492G>A (p.Gln164=)
NM_003764.4(STX11):c.499A>G (p.Ile167Val)
NM_003764.4(STX11):c.513A>G (p.Glu171=)
NM_003764.4(STX11):c.516C>T (p.Val172=) rs2128757246
NM_003764.4(STX11):c.518C>T (p.Ser173Leu)
NM_003764.4(STX11):c.519G>A (p.Ser173=)
NM_003764.4(STX11):c.51G>A (p.Gln17=)
NM_003764.4(STX11):c.522C>A (p.Gly174=)
NM_003764.4(STX11):c.534G>A (p.Glu178=)
NM_003764.4(STX11):c.536A>G (p.Asp179Gly) rs1802072127
NM_003764.4(STX11):c.53A>G (p.Gln18Arg) rs892078817
NM_003764.4(STX11):c.543C>T (p.Phe181=)
NM_003764.4(STX11):c.554dup (p.Trp186fs) rs1317576992
NM_003764.4(STX11):c.558G>T (p.Trp186Cys) rs201639250
NM_003764.4(STX11):c.561C>T (p.Asp187=)
NM_003764.4(STX11):c.562G>A (p.Val188Met) rs2128757269
NM_003764.4(STX11):c.570C>G (p.Ser190=)
NM_003764.4(STX11):c.576C>T (p.Asn192=)
NM_003764.4(STX11):c.57C>T (p.Phe19=)
NM_003764.4(STX11):c.580C>T (p.Leu194=) rs2128757281
NM_003764.4(STX11):c.581_584del (p.Leu194fs) rs1584062332
NM_003764.4(STX11):c.585C>G (p.Ala195=)
NM_003764.4(STX11):c.586G>T (p.Asp196Tyr)
NM_003764.4(STX11):c.587A>T (p.Asp196Val)
NM_003764.4(STX11):c.588C>T (p.Asp196=)
NM_003764.4(STX11):c.589G>T (p.Val197Leu)
NM_003764.4(STX11):c.594G>A (p.Lys198=)
NM_003764.4(STX11):c.599_602del (p.Ala200fs) rs758032054
NM_003764.4(STX11):c.602G>A (p.Arg201Gln)
NM_003764.4(STX11):c.602G>T (p.Arg201Leu) rs1159549216
NM_003764.4(STX11):c.606C>A (p.Ala202=)
NM_003764.4(STX11):c.606C>G (p.Ala202=) rs781652788
NM_003764.4(STX11):c.610C>A (p.Leu204Ile)
NM_003764.4(STX11):c.612C>A (p.Leu204=)
NM_003764.4(STX11):c.618G>A (p.Glu206=)
NM_003764.4(STX11):c.621C>T (p.Ile207=)
NM_003764.4(STX11):c.624G>A (p.Glu208=)
NM_003764.4(STX11):c.628C>A (p.Arg210Ser)
NM_003764.4(STX11):c.630C>T (p.Arg210=)
NM_003764.4(STX11):c.632A>G (p.His211Arg)
NM_003764.4(STX11):c.633C>T (p.His211=)
NM_003764.4(STX11):c.634C>A (p.Arg212Ser) rs1279778517
NM_003764.4(STX11):c.637G>C (p.Glu213Gln) rs1802079651
NM_003764.4(STX11):c.63C>T (p.Asp21=) rs149176821
NM_003764.4(STX11):c.645G>C (p.Leu215=)
NM_003764.4(STX11):c.645dup (p.Arg216fs)
NM_003764.4(STX11):c.649C>T (p.Leu217=)
NM_003764.4(STX11):c.64G>C (p.Gly22Arg) rs375091661
NM_003764.4(STX11):c.657C>T (p.Ser219=)
NM_003764.4(STX11):c.658C>T (p.Arg220Cys) rs1347888298
NM_003764.4(STX11):c.668A>C (p.Asp223Ala) rs1554294411
NM_003764.4(STX11):c.674A>G (p.His225Arg)
NM_003764.4(STX11):c.677A>C (p.Glu226Ala) rs1802082989
NM_003764.4(STX11):c.678G>A (p.Glu226=)
NM_003764.4(STX11):c.691A>T (p.Met231Leu) rs1197769226
NM_003764.4(STX11):c.692T>C (p.Met231Thr) rs1802083833
NM_003764.4(STX11):c.695C>T (p.Ala232Val) rs1159227535
NM_003764.4(STX11):c.700C>T (p.Leu234=)
NM_003764.4(STX11):c.705G>A (p.Val235=)
NM_003764.4(STX11):c.708G>A (p.Glu236=)
NM_003764.4(STX11):c.717C>T (p.Ala239=)
NM_003764.4(STX11):c.720C>T (p.Asp240=)
NM_003764.4(STX11):c.732C>T (p.Val244=)
NM_003764.4(STX11):c.739C>T (p.Leu247Phe)
NM_003764.4(STX11):c.741C>A (p.Leu247=)
NM_003764.4(STX11):c.741C>T (p.Leu247=)
NM_003764.4(STX11):c.743A>G (p.Asn248Ser) rs765907508
NM_003764.4(STX11):c.747A>G (p.Val249=)
NM_003764.4(STX11):c.750A>G (p.Gln250=) rs1165149442
NM_003764.4(STX11):c.756G>A (p.Thr252=)
NM_003764.4(STX11):c.756G>C (p.Thr252=) rs1419598166
NM_003764.4(STX11):c.756G>T (p.Thr252=)
NM_003764.4(STX11):c.759C>A (p.Val253=)
NM_003764.4(STX11):c.761A>C (p.Asp254Ala)
NM_003764.4(STX11):c.764A>C (p.Tyr255Ser) rs758653019
NM_003764.4(STX11):c.767C>G (p.Thr256Ser) rs1562671483
NM_003764.4(STX11):c.768C>T (p.Thr256=)
NM_003764.4(STX11):c.76T>A (p.Phe26Ile)
NM_003764.4(STX11):c.770G>A (p.Gly257Asp) rs574011092
NM_003764.4(STX11):c.780G>A (p.Lys260=)
NM_003764.4(STX11):c.801G>A (p.Val267=)
NM_003764.4(STX11):c.808GAG[1] (p.Glu271del) rs751291364
NM_003764.4(STX11):c.813GAA[1] (p.Lys272del) rs1409098325
NM_003764.4(STX11):c.822C>T (p.Pro274=)
NM_003764.4(STX11):c.825C>T (p.Cys275=)
NM_003764.4(STX11):c.827G>C (p.Arg276Pro)
NM_003764.4(STX11):c.83C>A (p.Ser28Ter) rs143547259
NM_003764.4(STX11):c.841T>C (p.Phe281Leu)
NM_003764.4(STX11):c.846C>T (p.Cys282=)
NM_003764.4(STX11):c.850C>G (p.Pro284Ala)
NM_003764.4(STX11):c.854G>C (p.Cys285Ser) rs1321958193
NM_003764.4(STX11):c.855C>T (p.Cys285=)
NM_003764.4(STX11):c.858C>A (p.Leu286=)
NM_003764.4(STX11):c.861G>A (p.Lys287=)
NM_003764.4(STX11):c.87C>T (p.Pro29=)
NM_003764.4(STX11):c.90C>A (p.His30Gln)
NM_003764.4(STX11):c.90C>T (p.His30=) rs751806887
NM_003764.4(STX11):c.91G>A (p.Glu31Lys)
NM_003764.4(STX11):c.93G>A (p.Glu31=)
NM_003764.4(STX11):c.96C>T (p.Asp32=) rs2128756763
NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly) rs55656324
NM_005045.4(RELN):c.-5_1dup (p.Met(?_1)_Met1(?))
NM_005045.4(RELN):c.1000C>T (p.Arg334Cys)
NM_005045.4(RELN):c.10015A>C (p.Met3339Leu)
NM_005045.4(RELN):c.10015A>G (p.Met3339Val)
NM_005045.4(RELN):c.1001G>T (p.Arg334Leu) rs146922726
NM_005045.4(RELN):c.10022A>G (p.Gln3341Arg) rs752958651
NM_005045.4(RELN):c.10037A>G (p.Asn3346Ser) rs1192573356
NM_005045.4(RELN):c.10038C>A (p.Asn3346Lys)
NM_005045.4(RELN):c.10039A>C (p.Ser3347Arg) rs1450247215
NM_005045.4(RELN):c.10040G>A (p.Ser3347Asn) rs1828326766
NM_005045.4(RELN):c.10049G>A (p.Ser3350Asn)
NM_005045.4(RELN):c.10050T>C (p.Ser3350=)
NM_005045.4(RELN):c.10052G>T (p.Gly3351Val) rs2116978384
NM_005045.4(RELN):c.10054C>A (p.Pro3352Thr) rs1202492754
NM_005045.4(RELN):c.10059C>T (p.His3353=)
NM_005045.4(RELN):c.10065G>A (p.Val3355=)
NM_005045.4(RELN):c.10080G>C (p.Leu3360=)
NM_005045.4(RELN):c.10100A>G (p.Asn3367Ser)
NM_005045.4(RELN):c.10106T>C (p.Ile3369Thr)
NM_005045.4(RELN):c.10135C>T (p.Pro3379Ser) rs1288993333
NM_005045.4(RELN):c.10154C>G (p.Ala3385Gly)
NM_005045.4(RELN):c.10159A>C (p.Arg3387=)
NM_005045.4(RELN):c.1015T>C (p.Tyr339His) rs2115780671
NM_005045.4(RELN):c.10164G>A (p.Val3388=)
NM_005045.4(RELN):c.10176C>T (p.Val3392=) rs775078043
NM_005045.4(RELN):c.10181+15T>C
NM_005045.4(RELN):c.10181+20A>T
NM_005045.4(RELN):c.10181+7G>A rs1554360619
NM_005045.4(RELN):c.10182-18C>T
NM_005045.4(RELN):c.10189C>T (p.Arg3397Trp)
NM_005045.4(RELN):c.10191G>A (p.Arg3397=) rs1350446371
NM_005045.4(RELN):c.10207C>G (p.Leu3403Val) rs2116975944
NM_005045.4(RELN):c.10211G>A (p.Arg3404His) rs1473736832
NM_005045.4(RELN):c.10225C>T (p.Arg3409Cys)
NM_005045.4(RELN):c.10226G>A (p.Arg3409His)
NM_005045.4(RELN):c.1022C>G (p.Ala341Gly)
NM_005045.4(RELN):c.1022C>T (p.Ala341Val) rs1467885013
NM_005045.4(RELN):c.10231A>G (p.Asn3411Asp)
NM_005045.4(RELN):c.10233T>C (p.Asn3411=) rs2116975846
NM_005045.4(RELN):c.10248T>A (p.Asp3416Glu) rs1828293057
NM_005045.4(RELN):c.10251A>C (p.Gln3417His)
NM_005045.4(RELN):c.10252T>C (p.Trp3418Arg)
NM_005045.4(RELN):c.10255G>T (p.Ala3419Ser) rs2116975803
NM_005045.4(RELN):c.10266T>C (p.His3422=)
NM_005045.4(RELN):c.10273G>A (p.Val3425Ile) rs2116975749
NM_005045.4(RELN):c.10273GTC[1] (p.Val3426del) rs1159588480
NM_005045.4(RELN):c.10280+19G>A
NM_005045.4(RELN):c.10280+7A>G rs764488118
NM_005045.4(RELN):c.10281-10T>C rs2116962173
NM_005045.4(RELN):c.10281-15T>C rs2116962209
NM_005045.4(RELN):c.10282G>T (p.Val3428Leu)
NM_005045.4(RELN):c.10286+10_10286+12del rs2116962096
NM_005045.4(RELN):c.10286+8C>A
NM_005045.4(RELN):c.10286+8C>T
NM_005045.4(RELN):c.10287-11_10287-6del
NM_005045.4(RELN):c.10287-6T>C
NM_005045.4(RELN):c.102_103delinsTT (p.Pro35Ser) rs2116860248
NM_005045.4(RELN):c.10303T>C (p.Tyr3435His) rs1827903281
NM_005045.4(RELN):c.10306A>G (p.Met3436Val) rs1257276738
NM_005045.4(RELN):c.10307TGA[1] (p.Met3437del) rs1406481652
NM_005045.4(RELN):c.10312A>T (p.Asn3438Tyr)
NM_005045.4(RELN):c.10322_10324del (p.Arg3441del) rs770480930
NM_005045.4(RELN):c.1032C>G (p.Ala344=) rs765460597
NM_005045.4(RELN):c.1032C>T (p.Ala344=)
NM_005045.4(RELN):c.10330G>A (p.Gly3444Arg)
NM_005045.4(RELN):c.10332G>A (p.Gly3444=)
NM_005045.4(RELN):c.10340A>G (p.His3447Arg)
NM_005045.4(RELN):c.10352G>T (p.Arg3451Ile) rs2116945728
NM_005045.4(RELN):c.1037A>G (p.Asp346Gly)
NM_005045.4(RELN):c.10381T>C (p.Ter3461Arg)
NM_005045.4(RELN):c.1038T>C (p.Asp346=)
NM_005045.4(RELN):c.1045T>C (p.Leu349=) rs777083831
NM_005045.4(RELN):c.1051A>G (p.Ile351Val)
NM_005045.4(RELN):c.105CTT[1] (p.Phe38del) rs1563127968
NM_005045.4(RELN):c.1063C>T (p.His355Tyr)
NM_005045.4(RELN):c.1068A>G (p.Arg356=) rs761077554
NM_005045.4(RELN):c.1072G>C (p.Val358Leu)
NM_005045.4(RELN):c.1093G>A (p.Asp365Asn)
NM_005045.4(RELN):c.109T>C (p.Phe37Leu)
NM_005045.4(RELN):c.1111A>T (p.Asn371Tyr)
NM_005045.4(RELN):c.1117C>A (p.Leu373Ile) rs1421351225
NM_005045.4(RELN):c.1117C>T (p.Leu373Phe)
NM_005045.4(RELN):c.1119T>G (p.Leu373=)
NM_005045.4(RELN):c.1126C>T (p.Pro376Ser)
NM_005045.4(RELN):c.1129G>A (p.Gly377Arg) rs2115780068
NM_005045.4(RELN):c.1136C>T (p.Thr379Ile)
NM_005045.4(RELN):c.1143+15dup rs758452731
NM_005045.4(RELN):c.1143+18T>C
NM_005045.4(RELN):c.1143+4A>G rs1834010100
NM_005045.4(RELN):c.1144-18C>G rs1280272450
NM_005045.4(RELN):c.1144-4A>G
NM_005045.4(RELN):c.1144-5T>A rs1395638450
NM_005045.4(RELN):c.1144-5T>C rs1395638450
NM_005045.4(RELN):c.1144-7C>A
NM_005045.4(RELN):c.1144-8A>G rs2115696480
NM_005045.4(RELN):c.1144C>T (p.His382Tyr)
NM_005045.4(RELN):c.1145A>G (p.His382Arg) rs756299850
NM_005045.4(RELN):c.1146T>C (p.His382=)
NM_005045.4(RELN):c.114C>T (p.Phe38=) rs2116860210
NM_005045.4(RELN):c.1151G>A (p.Cys384Tyr)
NM_005045.4(RELN):c.1153C>G (p.Gln385Glu) rs1833669763
NM_005045.4(RELN):c.115C>T (p.Leu39=)
NM_005045.4(RELN):c.1166A>G (p.Asn389Ser) rs2115696295
NM_005045.4(RELN):c.1173T>G (p.Ile391Met) rs2115696262
NM_005045.4(RELN):c.1179C>T (p.Phe393=)
NM_005045.4(RELN):c.1180C>T (p.His394Tyr)
NM_005045.4(RELN):c.1181A>G (p.His394Arg)
NM_005045.4(RELN):c.1184G>A (p.Gly395Glu)
NM_005045.4(RELN):c.1185A>G (p.Gly395=) rs2115696164
NM_005045.4(RELN):c.1192G>A (p.Gly398Ser)
NM_005045.4(RELN):c.1193G>C (p.Gly398Ala) rs766992224
NM_005045.4(RELN):c.1194C>T (p.Gly398=) rs761288381
NM_005045.4(RELN):c.1198G>A (p.Glu400Lys)
NM_005045.4(RELN):c.1205A>G (p.Asn402Ser)
NM_005045.4(RELN):c.1206T>C (p.Asn402=)
NM_005045.4(RELN):c.1214C>T (p.Thr405Ile)
NM_005045.4(RELN):c.1215C>A (p.Thr405=) rs2115695904
NM_005045.4(RELN):c.1225G>A (p.Val409Ile) rs1833667563
NM_005045.4(RELN):c.1227A>G (p.Val409=)
NM_005045.4(RELN):c.1231C>T (p.Leu411Phe) rs144978163
NM_005045.4(RELN):c.124C>T (p.His42Tyr)
NM_005045.4(RELN):c.1250A>G (p.Gln417Arg) rs1554402126
NM_005045.4(RELN):c.1257A>G (p.Gln419=) rs2115695469
NM_005045.4(RELN):c.1265A>G (p.Glu422Gly)
NM_005045.4(RELN):c.1278C>G (p.Ser426Arg) rs755465811
NM_005045.4(RELN):c.1286C>T (p.Thr429Ile) rs1833665870
NM_005045.4(RELN):c.1289+10T>C
NM_005045.4(RELN):c.1289+13T>C
NM_005045.4(RELN):c.1289+4A>G
NM_005045.4(RELN):c.1289+4dup rs1833665764
NM_005045.4(RELN):c.1289+7A>G
NM_005045.4(RELN):c.1290-10T>G
NM_005045.4(RELN):c.1290-11T>C
NM_005045.4(RELN):c.1290-11_1290-9dup rs146986040
NM_005045.4(RELN):c.1290-12dup
NM_005045.4(RELN):c.1290-15C>T
NM_005045.4(RELN):c.1290-16C>T
NM_005045.4(RELN):c.1290-3del rs146986040
NM_005045.4(RELN):c.1290-3dup rs146986040
NM_005045.4(RELN):c.1290-5T>C
NM_005045.4(RELN):c.1296T>A (p.Asp432Glu)
NM_005045.4(RELN):c.1299C>T (p.Val433=)
NM_005045.4(RELN):c.1313T>C (p.Ile438Thr) rs1463687606
NM_005045.4(RELN):c.1327G>A (p.Gly443Arg)
NM_005045.4(RELN):c.1330A>G (p.Thr444Ala)
NM_005045.4(RELN):c.1331C>A (p.Thr444Lys)
NM_005045.4(RELN):c.1332G>A (p.Thr444=)
NM_005045.4(RELN):c.1338A>T (p.Glu446Asp) rs766146040
NM_005045.4(RELN):c.1344C>T (p.Gly448=) rs144150588
NM_005045.4(RELN):c.1351A>G (p.Met451Val)
NM_005045.4(RELN):c.1352T>C (p.Met451Thr) rs1833139566
NM_005045.4(RELN):c.1359C>T (p.Phe453=) rs1288349555
NM_005045.4(RELN):c.135G>A (p.Glu45=)
NM_005045.4(RELN):c.1361T>C (p.Leu454Pro) rs1833139042
NM_005045.4(RELN):c.1367A>T (p.Asp456Val)
NM_005045.4(RELN):c.1372G>C (p.Glu458Gln)
NM_005045.4(RELN):c.1379A>C (p.Lys460Thr) rs779530655
NM_005045.4(RELN):c.1392A>C (p.Pro464=) rs1347651350
NM_005045.4(RELN):c.1394C>T (p.Ser465Phe) rs111409626
NM_005045.4(RELN):c.13G>A (p.Gly5Ser)
NM_005045.4(RELN):c.1401C>T (p.Asp467=)
NM_005045.4(RELN):c.1402A>T (p.Thr468Ser) rs1833136675
NM_005045.4(RELN):c.1415G>A (p.Gly472Glu) rs2117412664
NM_005045.4(RELN):c.1416G>A (p.Gly472=) rs1156543517
NM_005045.4(RELN):c.1416G>T (p.Gly472=) rs1156543517
NM_005045.4(RELN):c.1420C>T (p.Leu474=) rs1438871577
NM_005045.4(RELN):c.1431C>T (p.Tyr477=)
NM_005045.4(RELN):c.1437G>A (p.Val479=) rs2117412568
NM_005045.4(RELN):c.1441+11T>C
NM_005045.4(RELN):c.1441+13T>A
NM_005045.4(RELN):c.1441+15A>G
NM_005045.4(RELN):c.1441+16C>A
NM_005045.4(RELN):c.1441+5G>A rs1402939542
NM_005045.4(RELN):c.1442-13T>C
NM_005045.4(RELN):c.1442-17A>G
NM_005045.4(RELN):c.1442-18A>C
NM_005045.4(RELN):c.1442-4G>A
NM_005045.4(RELN):c.1442-6G>A
NM_005045.4(RELN):c.1442-7T>G rs1584380083
NM_005045.4(RELN):c.1445G>A (p.Gly482Glu)
NM_005045.4(RELN):c.1447A>G (p.Ile483Val)
NM_005045.4(RELN):c.1456C>T (p.Pro486Ser)
NM_005045.4(RELN):c.1464T>G (p.Asn488Lys) rs1832980117
NM_005045.4(RELN):c.1469A>G (p.His490Arg)
NM_005045.4(RELN):c.1470T>C (p.His490=)
NM_005045.4(RELN):c.1475del (p.Asn492fs)
NM_005045.4(RELN):c.1484T>C (p.Ile495Thr)
NM_005045.4(RELN):c.1490A>G (p.Tyr497Cys)
NM_005045.4(RELN):c.1505G>C (p.Gly502Ala) rs1382483563
NM_005045.4(RELN):c.1515G>A (p.Glu505=)
NM_005045.4(RELN):c.1516C>T (p.His506Tyr)
NM_005045.4(RELN):c.1519A>G (p.Ile507Val)
NM_005045.4(RELN):c.1525C>G (p.Leu509Val)
NM_005045.4(RELN):c.1528G>A (p.Asp510Asn)
NM_005045.4(RELN):c.1533C>A (p.Thr511=)
NM_005045.4(RELN):c.1550A>G (p.Tyr517Cys)
NM_005045.4(RELN):c.1550A>T (p.Tyr517Phe) rs750093812
NM_005045.4(RELN):c.1552A>G (p.Lys518Glu) rs1832977510
NM_005045.4(RELN):c.1554+7A>G rs764139642
NM_005045.4(RELN):c.1554+7A>T rs764139642
NM_005045.4(RELN):c.1554+9G>A
NM_005045.4(RELN):c.1555-12T>C rs2117391847
NM_005045.4(RELN):c.1555-20del
NM_005045.4(RELN):c.1555-4A>G
NM_005045.4(RELN):c.1555G>A (p.Val519Ile) rs560704715
NM_005045.4(RELN):c.1555G>C (p.Val519Leu) rs560704715
NM_005045.4(RELN):c.1556T>C (p.Val519Ala) rs1832948997
NM_005045.4(RELN):c.1559C>T (p.Pro520Leu)
NM_005045.4(RELN):c.1563T>C (p.Ser521=)
NM_005045.4(RELN):c.1581C>T (p.Ile527=)
NM_005045.4(RELN):c.1583A>G (p.Asn528Ser) rs1217281315
NM_005045.4(RELN):c.1586C>T (p.Pro529Leu)
NM_005045.4(RELN):c.1591C>A (p.Leu531Ile)
NM_005045.4(RELN):c.15C>A (p.Gly5=) rs1455461778
NM_005045.4(RELN):c.1620C>T (p.Leu540=)
NM_005045.4(RELN):c.1621A>G (p.Arg541Gly) rs1562941047
NM_005045.4(RELN):c.1623G>A (p.Arg541=)
NM_005045.4(RELN):c.1633C>T (p.His545Tyr)
NM_005045.4(RELN):c.1638A>C (p.Gln546His) rs1832946111
NM_005045.4(RELN):c.1640G>A (p.Gly547Glu)
NM_005045.4(RELN):c.1647T>A (p.Asn549Lys) rs1832945895
NM_005045.4(RELN):c.1649G>A (p.Arg550Lys) rs773589573
NM_005045.4(RELN):c.1650G>C (p.Arg550Ser) rs2117391616
NM_005045.4(RELN):c.1671T>C (p.Phe557=)
NM_005045.4(RELN):c.1674C>T (p.Phe558=)
NM_005045.4(RELN):c.1676A>G (p.His559Arg)
NM_005045.4(RELN):c.1680C>G (p.Val560=) rs773927672
NM_005045.4(RELN):c.1683G>T (p.Leu561Phe)
NM_005045.4(RELN):c.1684C>T (p.Pro562Ser) rs2117391501
NM_005045.4(RELN):c.1699A>G (p.Thr567Ala)
NM_005045.4(RELN):c.1702A>G (p.Met568Val)
NM_005045.4(RELN):c.1706C>G (p.Ser569Cys) rs2117391403
NM_005045.4(RELN):c.1710C>T (p.His570=)
NM_005045.4(RELN):c.1711A>C (p.Met571Leu)
NM_005045.4(RELN):c.1711A>G (p.Met571Val) rs2117391388
NM_005045.4(RELN):c.1713G>T (p.Met571Ile)
NM_005045.4(RELN):c.1715T>C (p.Ile572Thr)
NM_005045.4(RELN):c.171T>C (p.Ile57=)
NM_005045.4(RELN):c.1726A>C (p.Ile576Leu)
NM_005045.4(RELN):c.1726A>G (p.Ile576Val)
NM_005045.4(RELN):c.1734G>A (p.Leu578=) rs727504126
NM_005045.4(RELN):c.1735G>A (p.Gly579Arg) rs1584378671
NM_005045.4(RELN):c.173C>T (p.Ser58Phe) rs1797168998
NM_005045.4(RELN):c.1745C>A (p.Thr582Lys)
NM_005045.4(RELN):c.1745C>T (p.Thr582Met) rs1038574999
NM_005045.4(RELN):c.1746G>A (p.Thr582=) rs138532222
NM_005045.4(RELN):c.1748A>T (p.His583Leu)
NM_005045.4(RELN):c.174C>T (p.Ser58=) rs1797168938
NM_005045.4(RELN):c.1753C>G (p.Pro585Ala)
NM_005045.4(RELN):c.1756G>A (p.Gly586Ser)
NM_005045.4(RELN):c.1763+11C>G
NM_005045.4(RELN):c.1763+13A>G
NM_005045.4(RELN):c.1763+19T>C rs988534310
NM_005045.4(RELN):c.1763+19T>G rs988534310
NM_005045.4(RELN):c.1763+5_1763+6delinsTT rs2117391274
NM_005045.4(RELN):c.1763+6A>T rs1832942524
NM_005045.4(RELN):c.1763+9_1763+22del
NM_005045.4(RELN):c.1764-10G>T
NM_005045.4(RELN):c.1764-16G>A
NM_005045.4(RELN):c.1764-18T>C
NM_005045.4(RELN):c.1764-6T>C
NM_005045.4(RELN):c.1765G>A (p.Val589Ile) rs1199009421
NM_005045.4(RELN):c.1784C>T (p.Thr595Ile) rs2117389352
NM_005045.4(RELN):c.1789C>T (p.His597Tyr) rs779014769
NM_005045.4(RELN):c.1791T>G (p.His597Gln)
NM_005045.4(RELN):c.1797C>T (p.Arg599=)
NM_005045.4(RELN):c.179A>G (p.His60Arg) rs1584425634
NM_005045.4(RELN):c.1806C>T (p.Ser602=)
NM_005045.4(RELN):c.1808T>G (p.Leu603Arg) rs2117389224
NM_005045.4(RELN):c.1813C>T (p.His605Tyr)
NM_005045.4(RELN):c.1830T>A (p.Pro610=) rs2117389164
NM_005045.4(RELN):c.1841C>A (p.Ala614Asp) rs1832918061
NM_005045.4(RELN):c.1856C>G (p.Pro619Arg)
NM_005045.4(RELN):c.1860C>A (p.His620Gln)
NM_005045.4(RELN):c.1864A>G (p.Thr622Ala) rs2117389074
NM_005045.4(RELN):c.1872CTC[3] (p.Ser626_Glu627insSer)
NM_005045.4(RELN):c.187G>T (p.Gly63Cys)
NM_005045.4(RELN):c.1883A>T (p.Asn628Ile)
NM_005045.4(RELN):c.1891G>T (p.Gly631Trp)
NM_005045.4(RELN):c.1892+9A>G rs201307509
NM_005045.4(RELN):c.1893-13A>G
NM_005045.4(RELN):c.189C>A (p.Gly63=) rs370805443
NM_005045.4(RELN):c.1901G>A (p.Arg634Gln) rs779205093
NM_005045.4(RELN):c.1902A>C (p.Arg634=) rs2117386132
NM_005045.4(RELN):c.1903A>G (p.Ile635Val)
NM_005045.4(RELN):c.1903A>T (p.Ile635Leu) rs1411192424
NM_005045.4(RELN):c.1907C>T (p.Thr636Ile)
NM_005045.4(RELN):c.1911T>G (p.Ile637Met) rs2117386083
NM_005045.4(RELN):c.1914C>T (p.Pro638=) rs2117386074
NM_005045.4(RELN):c.191A>G (p.Asn64Ser)
NM_005045.4(RELN):c.1923C>G (p.Asn641Lys)
NM_005045.4(RELN):c.1931T>C (p.Leu644Pro)
NM_005045.4(RELN):c.1936C>G (p.Arg646Gly) rs115831287
NM_005045.4(RELN):c.193C>T (p.Pro65Ser) rs1797168163
NM_005045.4(RELN):c.1941C>T (p.Asn647=)
NM_005045.4(RELN):c.1945A>G (p.Arg649Gly)
NM_005045.4(RELN):c.1951C>T (p.Arg651Cys) rs749565108
NM_005045.4(RELN):c.1953C>T (p.Arg651=)
NM_005045.4(RELN):c.195C>T (p.Pro65=) rs2116859980
NM_005045.4(RELN):c.1969C>G (p.Pro657Ala)
NM_005045.4(RELN):c.196A>G (p.Thr66Ala) rs751673305
NM_005045.4(RELN):c.1984_1985del (p.Met662fs)
NM_005045.4(RELN):c.1985T>C (p.Met662Thr)
NM_005045.4(RELN):c.1995T>C (p.Ile665=)
NM_005045.4(RELN):c.1A>G (p.Met1Val) rs1218893617
NM_005045.4(RELN):c.2001T>A (p.Asn667Lys)
NM_005045.4(RELN):c.2002+1G>A
NM_005045.4(RELN):c.2002+20A>G
NM_005045.4(RELN):c.2002+4A>G
NM_005045.4(RELN):c.2002+7G>A
NM_005045.4(RELN):c.2003-12dup rs768288120
NM_005045.4(RELN):c.2003-13T>C
NM_005045.4(RELN):c.2003-16T>C
NM_005045.4(RELN):c.2003-17C>A
NM_005045.4(RELN):c.2003-17_2003-16del
NM_005045.4(RELN):c.2003-19C>A
NM_005045.4(RELN):c.2003-19C>G
NM_005045.4(RELN):c.2003-9C>A rs538376608
NM_005045.4(RELN):c.2003-9C>T rs538376608
NM_005045.4(RELN):c.2009T>C (p.Ile670Thr) rs1832676819
NM_005045.4(RELN):c.2013C>G (p.Gly671=)
NM_005045.4(RELN):c.2015C>G (p.Pro672Arg)
NM_005045.4(RELN):c.2039G>T (p.Gly680Val) rs1562935595
NM_005045.4(RELN):c.2042G>A (p.Arg681Lys)
NM_005045.4(RELN):c.205G>A (p.Val69Ile)
NM_005045.4(RELN):c.2060A>C (p.His687Pro) rs755685024
NM_005045.4(RELN):c.2069+16T>C
NM_005045.4(RELN):c.2069+19C>T
NM_005045.4(RELN):c.2069+7A>G rs754518201
NM_005045.4(RELN):c.2070-13A>G
NM_005045.4(RELN):c.2070-14C>T
NM_005045.4(RELN):c.2070-3C>A
NM_005045.4(RELN):c.2070-8T>G
NM_005045.4(RELN):c.2071T>G (p.Cys691Gly) rs1562933794
NM_005045.4(RELN):c.2075del (p.Asp692fs)
NM_005045.4(RELN):c.2078C>G (p.Pro693Arg) rs1832583360
NM_005045.4(RELN):c.2082A>C (p.Gly694=) rs996259654
NM_005045.4(RELN):c.2086dup (p.Ser696fs) rs1832583187
NM_005045.4(RELN):c.208C>A (p.Pro70Thr) rs773680003
NM_005045.4(RELN):c.2096C>T (p.Ala699Val)
NM_005045.4(RELN):c.2101G>A (p.Glu701Lys) rs2117351742
NM_005045.4(RELN):c.2102A>T (p.Glu701Val)
NM_005045.4(RELN):c.210G>A (p.Pro70=)
NM_005045.4(RELN):c.210G>T (p.Pro70=) rs770473518
NM_005045.4(RELN):c.2118A>G (p.Thr706=)
NM_005045.4(RELN):c.211G>C (p.Gly71Arg)
NM_005045.4(RELN):c.2124A>C (p.Pro708=)
NM_005045.4(RELN):c.2125A>T (p.Met709Leu) rs114577182
NM_005045.4(RELN):c.2127G>A (p.Met709Ile) rs2117351623
NM_005045.4(RELN):c.2130T>C (p.Phe710=)
NM_005045.4(RELN):c.2132T>C (p.Ile711Thr)
NM_005045.4(RELN):c.2137G>C (p.Glu713Gln)
NM_005045.4(RELN):c.2149A>G (p.Ser717Gly) rs2117351584
NM_005045.4(RELN):c.2156G>C (p.Arg719Thr)
NM_005045.4(RELN):c.2158C>G (p.Leu720Val) rs1554395337
NM_005045.4(RELN):c.2163C>A (p.Ser721=)
NM_005045.4(RELN):c.2169C>T (p.Tyr723=) rs1334061774
NM_005045.4(RELN):c.2175C>T (p.Asn725=)
NM_005045.4(RELN):c.2187C>A (p.Ile729=)
NM_005045.4(RELN):c.2193T>A (p.Gly731=)
NM_005045.4(RELN):c.2196T>G (p.Ala732=)
NM_005045.4(RELN):c.21C>G (p.Ala7=)
NM_005045.4(RELN):c.2207T>G (p.Phe736Cys)
NM_005045.4(RELN):c.2222T>C (p.Leu741Ser)
NM_005045.4(RELN):c.2231G>A (p.Gly744Asp) rs1268141513
NM_005045.4(RELN):c.2234A>G (p.Lys745Arg)
NM_005045.4(RELN):c.224A>G (p.His75Arg) rs770570216
NM_005045.4(RELN):c.224A>T (p.His75Leu) rs770570216
NM_005045.4(RELN):c.2254G>T (p.Asp752Tyr)
NM_005045.4(RELN):c.226+14del
NM_005045.4(RELN):c.226+19C>G
NM_005045.4(RELN):c.226+20C>A
NM_005045.4(RELN):c.226+5G>A
NM_005045.4(RELN):c.226+6T>C
NM_005045.4(RELN):c.226+9C>T
NM_005045.4(RELN):c.226+9del rs753152149
NM_005045.4(RELN):c.2261G>A (p.Arg754Gln) rs1294568040
NM_005045.4(RELN):c.2263C>T (p.Arg755Cys) rs1832577812
NM_005045.4(RELN):c.2268G>A (p.Gln756=)
NM_005045.4(RELN):c.2268G>C (p.Gln756His)
NM_005045.4(RELN):c.227-13_227-10del rs1584364699
NM_005045.4(RELN):c.227-16C>G
NM_005045.4(RELN):c.227-17del rs561211301
NM_005045.4(RELN):c.227-26dup rs561211301
NM_005045.4(RELN):c.227-3C>T
NM_005045.4(RELN):c.227-8C>T
NM_005045.4(RELN):c.2272A>G (p.Ile758Val)
NM_005045.4(RELN):c.2280T>A (p.Ser760=) rs1182042456
NM_005045.4(RELN):c.2281T>C (p.Phe761Leu)
NM_005045.4(RELN):c.2297A>G (p.Gln766Arg) rs2117351011
NM_005045.4(RELN):c.22C>T (p.Arg8Trp)
NM_005045.4(RELN):c.2303+13A>T rs749050816
NM_005045.4(RELN):c.2303+1G>A rs2117350995
NM_005045.4(RELN):c.2303+2T>G
NM_005045.4(RELN):c.2303+6T>G
NM_005045.4(RELN):c.2304-13A>C rs774202843
NM_005045.4(RELN):c.2304-13A>T rs774202843
NM_005045.4(RELN):c.2304-14C>T
NM_005045.4(RELN):c.2304-17A>G
NM_005045.4(RELN):c.2304-6G>T rs377074345
NM_005045.4(RELN):c.2322G>T (p.Leu774=)
NM_005045.4(RELN):c.2325A>C (p.Arg775Ser) rs2117349022
NM_005045.4(RELN):c.2328G>A (p.Leu776=)
NM_005045.4(RELN):c.233T>C (p.Ile78Thr)
NM_005045.4(RELN):c.2344C>T (p.Leu782=) rs909588341
NM_005045.4(RELN):c.2349C>A (p.Ser783Arg)
NM_005045.4(RELN):c.2359G>A (p.Ala787Thr) rs1254113534
NM_005045.4(RELN):c.2359G>T (p.Ala787Ser) rs1254113534
NM_005045.4(RELN):c.2360C>T (p.Ala787Val)
NM_005045.4(RELN):c.2362C>T (p.Pro788Ser)
NM_005045.4(RELN):c.2364del (p.Asp789fs) rs2117348851
NM_005045.4(RELN):c.2370G>A (p.Gln790=)
NM_005045.4(RELN):c.2374G>C (p.Gly792Arg)
NM_005045.4(RELN):c.2388G>T (p.Leu796Phe)
NM_005045.4(RELN):c.2396A>G (p.Tyr799Cys) rs2117348731
NM_005045.4(RELN):c.2408A>G (p.Asn803Ser)
NM_005045.4(RELN):c.2415A>T (p.Ile805=) rs2117348683
NM_005045.4(RELN):c.2418T>G (p.Thr806=)
NM_005045.4(RELN):c.2420G>A (p.Trp807Ter)
NM_005045.4(RELN):c.2422A>G (p.Lys808Glu)
NM_005045.4(RELN):c.2431G>C (p.Glu811Gln)
NM_005045.4(RELN):c.2439T>C (p.Tyr813=) rs2117348607
NM_005045.4(RELN):c.2448C>T (p.Leu816=)
NM_005045.4(RELN):c.2450G>A (p.Ser817Asn)
NM_005045.4(RELN):c.2452T>C (p.Tyr818His)
NM_005045.4(RELN):c.2456A>C (p.His819Pro)
NM_005045.4(RELN):c.2456A>G (p.His819Arg)
NM_005045.4(RELN):c.245C>A (p.Thr82Asn) rs368049573
NM_005045.4(RELN):c.2460G>A (p.Glu820=) rs1832558211
NM_005045.4(RELN):c.2461C>G (p.Pro821Ala) rs988934092
NM_005045.4(RELN):c.2461C>T (p.Pro821Ser) rs988934092
NM_005045.4(RELN):c.2465+10A>G
NM_005045.4(RELN):c.2465+14_2465+15insCCCAAATGTTACAAAC
NM_005045.4(RELN):c.2465+15A>G
NM_005045.4(RELN):c.2465+15A>T
NM_005045.4(RELN):c.2465+2T>G
NM_005045.4(RELN):c.2466-4C>G
NM_005045.4(RELN):c.2466-7del rs571882672
NM_005045.4(RELN):c.2466-7dup rs571882672
NM_005045.4(RELN):c.2466-8T>C
NM_005045.4(RELN):c.2466-8_2466-7del
NM_005045.4(RELN):c.2466-9T>C rs750702751
NM_005045.4(RELN):c.2476G>T (p.Val826Leu)
NM_005045.4(RELN):c.2477T>C (p.Val826Ala) rs1554394300
NM_005045.4(RELN):c.2482C>G (p.Leu828Val) rs1832419963
NM_005045.4(RELN):c.2499G>A (p.Lys833=)
NM_005045.4(RELN):c.249T>C (p.Phe83=)
NM_005045.4(RELN):c.2531C>T (p.Pro844Leu) rs797045000
NM_005045.4(RELN):c.2532G>C (p.Pro844=) rs113842330
NM_005045.4(RELN):c.2550AGA[1] (p.Glu851del)
NM_005045.4(RELN):c.2557G>A (p.Val853Ile) rs1832418242
NM_005045.4(RELN):c.2563G>A (p.Ala855Thr) rs1269098020
NM_005045.4(RELN):c.2567T>C (p.Ile856Thr)
NM_005045.4(RELN):c.2581A>G (p.Met861Val)
NM_005045.4(RELN):c.2584A>G (p.Thr862Ala) rs1832417485
NM_005045.4(RELN):c.2590G>A (p.Val864Met)
NM_005045.4(RELN):c.25C>G (p.Gln9Glu) rs1797174077
NM_005045.4(RELN):c.2604C>G (p.Ser868Arg) rs1426251919
NM_005045.4(RELN):c.2608A>G (p.Ser870Gly) rs2117333045
NM_005045.4(RELN):c.2619T>C (p.Phe873=)
NM_005045.4(RELN):c.2620A>G (p.Thr874Ala)
NM_005045.4(RELN):c.2626C>G (p.Leu876Val)
NM_005045.4(RELN):c.2634G>A (p.Glu878=)
NM_005045.4(RELN):c.2643G>A (p.Gln881=)
NM_005045.4(RELN):c.265G>C (p.Val89Leu) rs778154915
NM_005045.4(RELN):c.2686C>A (p.His896Asn)
NM_005045.4(RELN):c.2686C>G (p.His896Asp)
NM_005045.4(RELN):c.2686C>T (p.His896Tyr)
NM_005045.4(RELN):c.2691C>G (p.Asp897Glu)
NM_005045.4(RELN):c.26A>G (p.Gln9Arg) rs115165703
NM_005045.4(RELN):c.2700T>G (p.Leu900=) rs1832414830
NM_005045.4(RELN):c.2702+12A>G
NM_005045.4(RELN):c.2702+5G>C rs1832414756
NM_005045.4(RELN):c.2703-12T>C rs2117292028
NM_005045.4(RELN):c.2703-13_2703-12del rs1451447613
NM_005045.4(RELN):c.2703-16T>C
NM_005045.4(RELN):c.2703-17A>G
NM_005045.4(RELN):c.2703-3C>T
NM_005045.4(RELN):c.2705T>G (p.Phe902Cys)
NM_005045.4(RELN):c.2708C>T (p.Thr903Ile)
NM_005045.4(RELN):c.2709A>G (p.Thr903=) rs2117291992
NM_005045.4(RELN):c.2717C>G (p.Ser906Cys) rs1174257090
NM_005045.4(RELN):c.2721A>T (p.Lys907Asn) rs1831966221
NM_005045.4(RELN):c.2722C>A (p.Leu908Ile) rs767519770
NM_005045.4(RELN):c.2724T>C (p.Leu908=)
NM_005045.4(RELN):c.2724T>G (p.Leu908=)
NM_005045.4(RELN):c.2725G>A (p.Ala909Thr) rs1167526294
NM_005045.4(RELN):c.2734A>G (p.Met912Val)
NM_005045.4(RELN):c.2759T>C (p.Met920Thr)
NM_005045.4(RELN):c.2765T>C (p.Ile922Thr)
NM_005045.4(RELN):c.2770G>A (p.Ala924Thr)
NM_005045.4(RELN):c.2786A>G (p.Gln929Arg)
NM_005045.4(RELN):c.2787G>A (p.Gln929=) rs2117291748
NM_005045.4(RELN):c.278A>G (p.Tyr93Cys)
NM_005045.4(RELN):c.2794T>C (p.Leu932=)
NM_005045.4(RELN):c.2797G>T (p.Val933Leu) rs2117291698
NM_005045.4(RELN):c.279C>T (p.Tyr93=) rs2116670576
NM_005045.4(RELN):c.2805A>T (p.Gly935=)
NM_005045.4(RELN):c.2810G>C (p.Gly937Ala) rs756821721
NM_005045.4(RELN):c.2820C>T (p.Tyr940=) rs944317418
NM_005045.4(RELN):c.2822_2836del (p.Thr941_Asp945del) rs1831961846
NM_005045.4(RELN):c.282A>G (p.Thr94=) rs1795500689
NM_005045.4(RELN):c.2837A>G (p.Asn946Ser)
NM_005045.4(RELN):c.2846A>C (p.Lys949Thr) rs1237046940
NM_005045.4(RELN):c.2848C>G (p.Leu950Val)
NM_005045.4(RELN):c.2850G>A (p.Leu950=)
NM_005045.4(RELN):c.2856C>T (p.Tyr952=) rs1562921907
NM_005045.4(RELN):c.2861C>G (p.Thr954Ser) rs2117291489
NM_005045.4(RELN):c.2862C>G (p.Thr954=)
NM_005045.4(RELN):c.2862C>T (p.Thr954=) rs1831960601
NM_005045.4(RELN):c.2872C>G (p.Leu958Val)
NM_005045.4(RELN):c.2877C>T (p.Thr959=)
NM_005045.4(RELN):c.2886C>T (p.Leu962=)
NM_005045.4(RELN):c.2887G>A (p.Val963Ile)
NM_005045.4(RELN):c.288A>G (p.Thr96=)
NM_005045.4(RELN):c.2892A>G (p.Gln964=)
NM_005045.4(RELN):c.2895+12T>C
NM_005045.4(RELN):c.2895+12T>G rs368245637
NM_005045.4(RELN):c.2895+12_2895+13dup
NM_005045.4(RELN):c.2895+18A>C
NM_005045.4(RELN):c.2895+3_2895+6del
NM_005045.4(RELN):c.2895+6T>A
NM_005045.4(RELN):c.2896-11del rs2117289186
NM_005045.4(RELN):c.2896-13_2896-10del
NM_005045.4(RELN):c.2896G>T (p.Glu966Ter)
NM_005045.4(RELN):c.289A>G (p.Ser97Gly)
NM_005045.4(RELN):c.28A>G (p.Thr10Ala)
NM_005045.4(RELN):c.28A>T (p.Thr10Ser) rs1584425962
NM_005045.4(RELN):c.2901C>G (p.Cys967Trp)
NM_005045.4(RELN):c.2905C>G (p.Pro969Ala) rs747794244
NM_005045.4(RELN):c.2907A>G (p.Pro969=) rs780891394
NM_005045.4(RELN):c.2911A>G (p.Met971Val)
NM_005045.4(RELN):c.2913G>A (p.Met971Ile)
NM_005045.4(RELN):c.2917A>G (p.Ser973Gly)
NM_005045.4(RELN):c.292G>A (p.Val98Ile)
NM_005045.4(RELN):c.2934A>C (p.Thr978=) rs1831933950
NM_005045.4(RELN):c.2937A>G (p.Ser979=) rs1831933873
NM_005045.4(RELN):c.2941A>G (p.Ser981Gly)
NM_005045.4(RELN):c.2941A>T (p.Ser981Cys)
NM_005045.4(RELN):c.2975G>A (p.Arg992Lys) rs1831932455
NM_005045.4(RELN):c.2981T>G (p.Val994Gly)
NM_005045.4(RELN):c.2983A>G (p.Ile995Val)
NM_005045.4(RELN):c.2989C>T (p.Leu997Phe) rs362691
NM_005045.4(RELN):c.2992C>G (p.Leu998Val) rs201003473
NM_005045.4(RELN):c.2995C>T (p.Pro999Ser)
NM_005045.4(RELN):c.2999A>G (p.Gln1000Arg) rs772586514
NM_005045.4(RELN):c.3002A>C (p.Lys1001Thr)
NM_005045.4(RELN):c.3005C>T (p.Thr1002Ile) rs1376812440
NM_005045.4(RELN):c.3008+13C>A rs974369522
NM_005045.4(RELN):c.3008+16T>C
NM_005045.4(RELN):c.3008+17A>G
NM_005045.4(RELN):c.3009-13A>T
NM_005045.4(RELN):c.3009-16T>C
NM_005045.4(RELN):c.3009-20A>G
NM_005045.4(RELN):c.3012C>A (p.Ser1004=)
NM_005045.4(RELN):c.3018T>C (p.Ala1006=)
NM_005045.4(RELN):c.3020C>G (p.Thr1007Ser) rs1831766309
NM_005045.4(RELN):c.3023G>A (p.Arg1008His)
NM_005045.4(RELN):c.3030C>T (p.Arg1010=) rs375739415
NM_005045.4(RELN):c.3036C>G (p.Ser1012Arg) rs777222017
NM_005045.4(RELN):c.3036C>T (p.Ser1012=)
NM_005045.4(RELN):c.303A>G (p.Ser101=)
NM_005045.4(RELN):c.3040A>C (p.Ser1014Arg)
NM_005045.4(RELN):c.3041G>A (p.Ser1014Asn)
NM_005045.4(RELN):c.3044A>G (p.Tyr1015Cys)
NM_005045.4(RELN):c.3050C>T (p.Thr1017Ile)
NM_005045.4(RELN):c.3057A>G (p.Gln1019=)
NM_005045.4(RELN):c.3061G>A (p.Glu1021Lys)
NM_005045.4(RELN):c.306G>A (p.Gln102=)
NM_005045.4(RELN):c.307A>G (p.Ser103Gly) rs749901976
NM_005045.4(RELN):c.3095A>C (p.Gln1032Pro)
NM_005045.4(RELN):c.3096G>A (p.Gln1032=) rs767711257
NM_005045.4(RELN):c.3099C>T (p.Cys1033=)
NM_005045.4(RELN):c.309C>T (p.Ser103=)
NM_005045.4(RELN):c.3106A>G (p.Met1036Val)
NM_005045.4(RELN):c.3119A>G (p.His1040Arg)
NM_005045.4(RELN):c.311T>C (p.Ile104Thr) rs764845581
NM_005045.4(RELN):c.3124T>A (p.Ser1042Thr) rs1831762160
NM_005045.4(RELN):c.3126A>C (p.Ser1042=)
NM_005045.4(RELN):c.3128G>A (p.Cys1043Tyr)
NM_005045.4(RELN):c.3130G>A (p.Asp1044Asn)
NM_005045.4(RELN):c.3131A>T (p.Asp1044Val) rs2117274001
NM_005045.4(RELN):c.3133C>T (p.His1045Tyr) rs1554389286
NM_005045.4(RELN):c.3137G>A (p.Gly1046Asp)
NM_005045.4(RELN):c.3139A>C (p.Ile1047Leu) rs778716913
NM_005045.4(RELN):c.3146+4T>C
NM_005045.4(RELN):c.3152A>G (p.Asp1051Gly)
NM_005045.4(RELN):c.3158G>A (p.Gly1053Glu) rs1831728723
NM_005045.4(RELN):c.3165A>G (p.Gln1055=)
NM_005045.4(RELN):c.3167G>A (p.Gly1056Asp) rs1831728302
NM_005045.4(RELN):c.3170C>T (p.Thr1057Ile)
NM_005045.4(RELN):c.3171T>C (p.Thr1057=) rs2117271796
NM_005045.4(RELN):c.3176G>A (p.Cys1059Tyr) rs1831727885
NM_005045.4(RELN):c.3177C>T (p.Cys1059=)
NM_005045.4(RELN):c.3178C>T (p.His1060Tyr)
NM_005045.4(RELN):c.3180C>G (p.His1060Gln)
NM_005045.4(RELN):c.3184G>A (p.Glu1062Lys) rs1287038020
NM_005045.4(RELN):c.3199T>A (p.Ser1067Thr) rs2117271684
NM_005045.4(RELN):c.3204A>G (p.Thr1068=)
NM_005045.4(RELN):c.3205A>G (p.Ile1069Val) rs963460771
NM_005045.4(RELN):c.3209T>C (p.Met1070Thr) rs1554389059
NM_005045.4(RELN):c.3215del (p.Asp1072fs) rs1831725857
NM_005045.4(RELN):c.3234C>T (p.Gly1078=)
NM_005045.4(RELN):c.3246C>A (p.Asp1082Glu) rs1562917138
NM_005045.4(RELN):c.3259A>G (p.Ile1087Val) rs1243933034
NM_005045.4(RELN):c.3263G>C (p.Gly1088Ala)
NM_005045.4(RELN):c.3271A>C (p.Ile1091Leu)
NM_005045.4(RELN):c.3274G>A (p.Val1092Ile) rs2117271353
NM_005045.4(RELN):c.3277A>C (p.Lys1093Gln)
NM_005045.4(RELN):c.3282A>G (p.Pro1094=) rs1281926093
NM_005045.4(RELN):c.3292T>C (p.Cys1098Arg)
NM_005045.4(RELN):c.32T>G (p.Phe11Cys) rs764120718
NM_005045.4(RELN):c.3300C>T (p.Val1100=)
NM_005045.4(RELN):c.3303C>T (p.Ile1101=) rs1285840374
NM_005045.4(RELN):c.3315A>G (p.Ser1105=) rs886042201
NM_005045.4(RELN):c.3316T>C (p.Ser1106Pro)
NM_005045.4(RELN):c.3328A>C (p.Ser1110Arg) rs757668683
NM_005045.4(RELN):c.3329G>A (p.Ser1110Asn)
NM_005045.4(RELN):c.3331A>G (p.Lys1111Glu)
NM_005045.4(RELN):c.3333+8C>A
NM_005045.4(RELN):c.3333+8C>T rs1482310315
NM_005045.4(RELN):c.3334-12C>T
NM_005045.4(RELN):c.3334-19T>A
NM_005045.4(RELN):c.3338G>A (p.Gly1113Glu)
NM_005045.4(RELN):c.3339G>T (p.Gly1113=) rs1831543602
NM_005045.4(RELN):c.3340A>G (p.Lys1114Glu)
NM_005045.4(RELN):c.3346C>T (p.Gln1116Ter)
NM_005045.4(RELN):c.3351G>C (p.Leu1117=) rs1584329052
NM_005045.4(RELN):c.3353T>C (p.Val1118Ala)
NM_005045.4(RELN):c.3362A>G (p.Asp1121Gly)
NM_005045.4(RELN):c.337+10T>G rs2116670302
NM_005045.4(RELN):c.337+11C>G
NM_005045.4(RELN):c.337+19C>G
NM_005045.4(RELN):c.337+4A>T rs1326392159
NM_005045.4(RELN):c.3378G>A (p.Trp1126Ter) rs2117255208
NM_005045.4(RELN):c.3379G>A (p.Val1127Met) rs1160249328
NM_005045.4(RELN):c.338-16C>G
NM_005045.4(RELN):c.338-16C>T
NM_005045.4(RELN):c.338-18C>G rs769855701
NM_005045.4(RELN):c.338-7C>G rs1423275203
NM_005045.4(RELN):c.338G>A (p.Gly113Glu)
NM_005045.4(RELN):c.33C>A (p.Phe11Leu)
NM_005045.4(RELN):c.33C>T (p.Phe11=)
NM_005045.4(RELN):c.3402C>A (p.Ile1134=)
NM_005045.4(RELN):c.3403C>G (p.Gln1135Glu) rs1831542452
NM_005045.4(RELN):c.3405_3406delinsTT (p.Gln1135_Ile1136delinsHisLeu) rs2117255146
NM_005045.4(RELN):c.3415G>C (p.Glu1139Gln)
NM_005045.4(RELN):c.3417G>C (p.Glu1139Asp)
NM_005045.4(RELN):c.3429C>T (p.Cys1143=)
NM_005045.4(RELN):c.3437C>A (p.Pro1146His)
NM_005045.4(RELN):c.343A>C (p.Met115Leu) rs1793329222
NM_005045.4(RELN):c.3447A>G (p.Arg1149=) rs2117255059
NM_005045.4(RELN):c.344T>C (p.Met115Thr)
NM_005045.4(RELN):c.3450G>A (p.Glu1150=)
NM_005045.4(RELN):c.3451G>C (p.Glu1151Gln)
NM_005045.4(RELN):c.3455G>A (p.Gly1152Asp) rs1831541293
NM_005045.4(RELN):c.3457G>A (p.Val1153Ile)
NM_005045.4(RELN):c.3468G>C (p.Gln1156His)
NM_005045.4(RELN):c.346T>A (p.Ser116Thr) rs1793329078
NM_005045.4(RELN):c.346T>C (p.Ser116Pro) rs1793329078
NM_005045.4(RELN):c.3479A>G (p.Asn1160Ser)
NM_005045.4(RELN):c.3483G>A (p.Gly1161=) rs1254504314
NM_005045.4(RELN):c.3485dup (p.Ile1163fs) rs1831540545
NM_005045.4(RELN):c.3496C>T (p.His1166Tyr) rs1166173010
NM_005045.4(RELN):c.3515A>G (p.Tyr1172Cys)
NM_005045.4(RELN):c.352C>T (p.His118Tyr) rs1793328921
NM_005045.4(RELN):c.3539+12C>A
NM_005045.4(RELN):c.3539+15G>C
NM_005045.4(RELN):c.3539+7A>G
NM_005045.4(RELN):c.3540-16A>T
NM_005045.4(RELN):c.3541T>G (p.Phe1181Val) rs773320636
NM_005045.4(RELN):c.3548A>G (p.Tyr1183Cys)
NM_005045.4(RELN):c.3552_3553delinsTA (p.Glu1185Lys) rs1831492761
NM_005045.4(RELN):c.3562G>A (p.Ala1188Thr) rs2117250423
NM_005045.4(RELN):c.3576C>T (p.Thr1192=) rs768983701
NM_005045.4(RELN):c.3598T>G (p.Trp1200Gly) rs1831491786
NM_005045.4(RELN):c.35T>G (p.Leu12Arg)
NM_005045.4(RELN):c.3606C>A (p.Pro1202=)
NM_005045.4(RELN):c.3606C>T (p.Pro1202=) rs747919198
NM_005045.4(RELN):c.3614C>T (p.Ser1205Leu)
NM_005045.4(RELN):c.3615A>G (p.Ser1205=)
NM_005045.4(RELN):c.3615_3616del (p.Glu1207fs)
NM_005045.4(RELN):c.3618G>A (p.Gly1206=)
NM_005045.4(RELN):c.3619_3620inv (p.Glu1207Ser)
NM_005045.4(RELN):c.3620A>G (p.Glu1207Gly)
NM_005045.4(RELN):c.3630C>T (p.Asp1210=)
NM_005045.4(RELN):c.3641T>C (p.Val1214Ala)
NM_005045.4(RELN):c.3643G>A (p.Asp1215Asn) rs1252404801
NM_005045.4(RELN):c.3648C>T (p.Asp1216=) rs2117250164
NM_005045.4(RELN):c.3655A>G (p.Ile1219Val) rs1057524179
NM_005045.4(RELN):c.3660G>A (p.Leu1220=)
NM_005045.4(RELN):c.3665A>T (p.Glu1222Val) rs2117250095
NM_005045.4(RELN):c.3670C>G (p.Gln1224Glu) rs549360134
NM_005045.4(RELN):c.3680T>C (p.Ile1227Thr) rs1584326923
NM_005045.4(RELN):c.3691A>G (p.Ile1231Val)
NM_005045.4(RELN):c.3707C>G (p.Pro1236Arg)
NM_005045.4(RELN):c.3708T>G (p.Pro1236=)
NM_005045.4(RELN):c.3711+10T>C rs992902436
NM_005045.4(RELN):c.3711+11A>G
NM_005045.4(RELN):c.3712-16G>A
NM_005045.4(RELN):c.3726G>A (p.Lys1242=)
NM_005045.4(RELN):c.3745A>G (p.Met1249Val) rs148751867
NM_005045.4(RELN):c.374T>C (p.Met125Thr) rs1793328118
NM_005045.4(RELN):c.3755T>C (p.Met1252Thr)
NM_005045.4(RELN):c.3760G>A (p.Val1254Met)
NM_005045.4(RELN):c.3772T>G (p.Leu1258Val)
NM_005045.4(RELN):c.3785G>A (p.Gly1262Glu)
NM_005045.4(RELN):c.3786A>G (p.Gly1262=) rs577453361
NM_005045.4(RELN):c.379A>G (p.Ser127Gly)
NM_005045.4(RELN):c.3803C>A (p.Thr1268Asn) rs2117248784
NM_005045.4(RELN):c.3803C>T (p.Thr1268Ile)
NM_005045.4(RELN):c.3806_3808del (p.Phe1269del) rs1232618042
NM_005045.4(RELN):c.3808T>C (p.Cys1270Arg) rs2117248747
NM_005045.4(RELN):c.3815C>T (p.Ala1272Val) rs375784624
NM_005045.4(RELN):c.3816C>A (p.Ala1272=) rs1355782479
NM_005045.4(RELN):c.3817A>G (p.Thr1273Ala) rs1831475227
NM_005045.4(RELN):c.3828A>G (p.Ala1276=)
NM_005045.4(RELN):c.3829A>G (p.Met1277Val) rs555946635
NM_005045.4(RELN):c.3833T>C (p.Ile1278Thr)
NM_005045.4(RELN):c.3845C>T (p.Ser1282Leu)
NM_005045.4(RELN):c.3848A>T (p.Asp1283Val) rs2117248656
NM_005045.4(RELN):c.384G>A (p.Val128=) rs1793327868
NM_005045.4(RELN):c.3856C>T (p.Arg1286Ter)
NM_005045.4(RELN):c.3862G>A (p.Ala1288Thr)
NM_005045.4(RELN):c.3865G>A (p.Val1289Ile) rs1190582008
NM_005045.4(RELN):c.3868A>G (p.Thr1290Ala)
NM_005045.4(RELN):c.3871C>T (p.Arg1291Ter) rs2117248586
NM_005045.4(RELN):c.3874G>A (p.Asp1292Asn)
NM_005045.4(RELN):c.3888A>T (p.Lys1296Asn) rs745587949
NM_005045.4(RELN):c.3895T>C (p.Tyr1299His)
NM_005045.4(RELN):c.3896A>G (p.Tyr1299Cys)
NM_005045.4(RELN):c.3898G>A (p.Val1300Met)
NM_005045.4(RELN):c.3900G>A (p.Val1300=)
NM_005045.4(RELN):c.3905A>T (p.Gln1302Leu)
NM_005045.4(RELN):c.3906G>C (p.Gln1302His) rs1554386837
NM_005045.4(RELN):c.3912+15G>C
NM_005045.4(RELN):c.3912+19C>A
NM_005045.4(RELN):c.3912+8T>C
NM_005045.4(RELN):c.3913-6T>C rs2117240030
NM_005045.4(RELN):c.3913-6dup rs781655960
NM_005045.4(RELN):c.3919A>G (p.Ile1307Val)
NM_005045.4(RELN):c.3924T>A (p.Gly1308=) rs1584322870
NM_005045.4(RELN):c.3930C>G (p.Ala1310=)
NM_005045.4(RELN):c.3936A>G (p.Gln1312=)
NM_005045.4(RELN):c.3946A>C (p.Thr1316Pro)
NM_005045.4(RELN):c.3947C>T (p.Thr1316Ile) rs1402063651
NM_005045.4(RELN):c.3955_3957dup (p.Val1319dup) rs1831367827
NM_005045.4(RELN):c.3971C>G (p.Ser1324Cys)
NM_005045.4(RELN):c.3973C>T (p.His1325Tyr)
NM_005045.4(RELN):c.3976G>A (p.Asp1326Asn)
NM_005045.4(RELN):c.3987G>A (p.Met1329Ile)
NM_005045.4(RELN):c.39A>G (p.Leu13=)
NM_005045.4(RELN):c.4002G>A (p.Val1334=) rs2117239802
NM_005045.4(RELN):c.4003A>G (p.Lys1335Glu)
NM_005045.4(RELN):c.4005A>G (p.Lys1335=) rs1242460681
NM_005045.4(RELN):c.4008A>C (p.Glu1336Asp) rs2117239786
NM_005045.4(RELN):c.4010G>C (p.Gly1337Ala) rs1289449043
NM_005045.4(RELN):c.4011C>T (p.Gly1337=)
NM_005045.4(RELN):c.4013G>A (p.Cys1338Tyr)
NM_005045.4(RELN):c.4030G>A (p.Gly1344Ser)
NM_005045.4(RELN):c.4031G>A (p.Gly1344Asp) rs1831365750
NM_005045.4(RELN):c.4032C>G (p.Gly1344=) rs751196307
NM_005045.4(RELN):c.4032C>T (p.Gly1344=)
NM_005045.4(RELN):c.4053C>G (p.Ser1351=)
NM_005045.4(RELN):c.4063A>G (p.Ser1355Gly) rs1831364343
NM_005045.4(RELN):c.4063A>T (p.Ser1355Cys) rs1831364343
NM_005045.4(RELN):c.4088G>A (p.Gly1363Glu)
NM_005045.4(RELN):c.4092C>T (p.Asp1364=)
NM_005045.4(RELN):c.4097A>G (p.Glu1366Gly)
NM_005045.4(RELN):c.40G>T (p.Ala14Ser) rs147551940
NM_005045.4(RELN):c.4100A>C (p.Glu1367Ala)
NM_005045.4(RELN):c.4105A>G (p.Thr1369Ala)
NM_005045.4(RELN):c.410C>T (p.Pro137Leu)
NM_005045.4(RELN):c.4110A>C (p.Arg1370Ser) rs1584322632
NM_005045.4(RELN):c.4110A>G (p.Arg1370=) rs1584322632
NM_005045.4(RELN):c.4112T>G (p.Ile1371Ser)
NM_005045.4(RELN):c.4118T>A (p.Ile1373Asn) rs529801155
NM_005045.4(RELN):c.4140A>C (p.Ala1380=) rs368469945
NM_005045.4(RELN):c.4145+11C>G rs761694952
NM_005045.4(RELN):c.4145+5A>G
NM_005045.4(RELN):c.4146-13T>C
NM_005045.4(RELN):c.4146-14_4146-12del
NM_005045.4(RELN):c.4146-19G>A
NM_005045.4(RELN):c.4146-4A>G rs2117208520
NM_005045.4(RELN):c.4146-7C>T
NM_005045.4(RELN):c.4146C>G (p.Ser1382Arg)
NM_005045.4(RELN):c.4148A>G (p.Lys1383Arg)
NM_005045.4(RELN):c.4150A>T (p.Thr1384Ser)
NM_005045.4(RELN):c.4160G>A (p.Arg1387Gln) rs1259371944
NM_005045.4(RELN):c.4166T>C (p.Ile1389Thr) rs758093276
NM_005045.4(RELN):c.4169A>G (p.Gln1390Arg)
NM_005045.4(RELN):c.416C>T (p.Thr139Ile)
NM_005045.4(RELN):c.4174AGC[3] (p.Ser1394dup) rs1478314996
NM_005045.4(RELN):c.4176C>G (p.Ser1392Arg) rs765007573
NM_005045.4(RELN):c.4190del (p.Asn1397fs) rs2117208388
NM_005045.4(RELN):c.4192G>A (p.Val1398Met)
NM_005045.4(RELN):c.4192G>T (p.Val1398Leu)
NM_005045.4(RELN):c.4195C>T (p.Pro1399Ser)
NM_005045.4(RELN):c.4196C>T (p.Pro1399Leu)
NM_005045.4(RELN):c.41C>G (p.Ala14Gly)
NM_005045.4(RELN):c.4211A>G (p.Asp1404Gly)
NM_005045.4(RELN):c.4214G>T (p.Gly1405Val) rs1562900485
NM_005045.4(RELN):c.4218G>A (p.Val1406=) rs2117208313
NM_005045.4(RELN):c.4222A>C (p.Ile1408Leu) rs1381220339
NM_005045.4(RELN):c.4222A>G (p.Ile1408Val)
NM_005045.4(RELN):c.4226C>G (p.Ser1409Cys)
NM_005045.4(RELN):c.4230G>A (p.Glu1410=) rs184601053
NM_005045.4(RELN):c.4232C>T (p.Pro1411Leu)
NM_005045.4(RELN):c.4248C>T (p.Cys1416=) rs1584310055
NM_005045.4(RELN):c.424A>C (p.Ser142Arg)
NM_005045.4(RELN):c.4255C>T (p.His1419Tyr) rs2117208208
NM_005045.4(RELN):c.4257T>A (p.His1419Gln) rs138924805
NM_005045.4(RELN):c.4257T>C (p.His1419=) rs138924805
NM_005045.4(RELN):c.425G>T (p.Ser142Ile)
NM_005045.4(RELN):c.4263C>A (p.Asp1421Glu) rs1235295586
NM_005045.4(RELN):c.4266C>T (p.Cys1422=)
NM_005045.4(RELN):c.4267A>G (p.Ile1423Val)
NM_005045.4(RELN):c.4269T>G (p.Ile1423Met) rs1830979263
NM_005045.4(RELN):c.4298A>G (p.Tyr1433Cys)
NM_005045.4(RELN):c.429C>G (p.Phe143Leu)
NM_005045.4(RELN):c.4303+20T>A
NM_005045.4(RELN):c.4303+3A>G
NM_005045.4(RELN):c.4303+5G>A rs1374880951
NM_005045.4(RELN):c.4304-12C>A rs2117205650
NM_005045.4(RELN):c.4304-16A>C
NM_005045.4(RELN):c.4304-16A>G
NM_005045.4(RELN):c.4304-20C>T
NM_005045.4(RELN):c.4304-20_4304-17del
NM_005045.4(RELN):c.4304-9T>C rs1830949017
NM_005045.4(RELN):c.4304-9_4304-7del
NM_005045.4(RELN):c.4311A>T (p.Gln1437His) rs770565114
NM_005045.4(RELN):c.4317C>T (p.Thr1439=) rs1584308792
NM_005045.4(RELN):c.4320T>C (p.Cys1440=) rs1584308763
NM_005045.4(RELN):c.4321G>A (p.Val1441Met) rs752744198
NM_005045.4(RELN):c.4327A>C (p.Asn1443His)
NM_005045.4(RELN):c.4336A>T (p.Asn1446Tyr) rs1319983959
NM_005045.4(RELN):c.4339C>G (p.His1447Asp)
NM_005045.4(RELN):c.4346A>C (p.Glu1449Ala) rs2117205481
NM_005045.4(RELN):c.4347G>A (p.Glu1449=)
NM_005045.4(RELN):c.4348A>G (p.Met1450Val)
NM_005045.4(RELN):c.4349T>C (p.Met1450Thr)
NM_005045.4(RELN):c.4353C>G (p.Phe1451Leu) rs370743731
NM_005045.4(RELN):c.4356T>C (p.Asp1452=)
NM_005045.4(RELN):c.4366G>A (p.Gly1456Arg) rs1830946543
NM_005045.4(RELN):c.4368G>A (p.Gly1456=)
NM_005045.4(RELN):c.4372C>T (p.Leu1458Phe)
NM_005045.4(RELN):c.4374C>T (p.Leu1458=) rs1584308677
NM_005045.4(RELN):c.4379C>A (p.Pro1460His)
NM_005045.4(RELN):c.4383G>A (p.Leu1461=)
NM_005045.4(RELN):c.4388A>C (p.Tyr1463Ser) rs1468303240
NM_005045.4(RELN):c.4390A>C (p.Lys1464Gln)
NM_005045.4(RELN):c.4402G>A (p.Ala1468Thr) rs1451901900
NM_005045.4(RELN):c.4403C>G (p.Ala1468Gly) rs1442056564
NM_005045.4(RELN):c.4415C>G (p.Thr1472Ser) rs1830944848
NM_005045.4(RELN):c.4418G>A (p.Gly1473Asp)
NM_005045.4(RELN):c.4427C>T (p.Thr1476Ile)
NM_005045.4(RELN):c.4428A>C (p.Thr1476=) rs376838638
NM_005045.4(RELN):c.4428A>T (p.Thr1476=)
NM_005045.4(RELN):c.4434C>T (p.Asn1478=) rs375118721
NM_005045.4(RELN):c.4435G>A (p.Asp1479Asn) rs781311212
NM_005045.4(RELN):c.4437T>A (p.Asp1479Glu) rs200920818
NM_005045.4(RELN):c.4440C>T (p.Gly1480=) rs758393207
NM_005045.4(RELN):c.4449_4450del (p.Tyr1484fs) rs2117205170
NM_005045.4(RELN):c.445C>T (p.Pro149Ser) rs374263472
NM_005045.4(RELN):c.446C>G (p.Pro149Arg)
NM_005045.4(RELN):c.4472G>A (p.Arg1491Lys) rs764417211
NM_005045.4(RELN):c.4477G>A (p.Ala1493Thr) rs1307056370
NM_005045.4(RELN):c.4478C>T (p.Ala1493Val) rs1248208606
NM_005045.4(RELN):c.4485G>A (p.Thr1495=) rs542018962
NM_005045.4(RELN):c.4485G>T (p.Thr1495=) rs542018962
NM_005045.4(RELN):c.4489C>T (p.Pro1497Ser) rs2117205011
NM_005045.4(RELN):c.4492C>T (p.Leu1498=)
NM_005045.4(RELN):c.4496A>G (p.Asp1499Gly)
NM_005045.4(RELN):c.4507A>G (p.Ile1503Val) rs779797168
NM_005045.4(RELN):c.4507A>T (p.Ile1503Phe) rs779797168
NM_005045.4(RELN):c.4510A>T (p.Arg1504Ter) rs2117204949
NM_005045.4(RELN):c.4511+5C>T
NM_005045.4(RELN):c.4512-18A>G rs2117201107
NM_005045.4(RELN):c.4517T>A (p.Val1506Asp) rs1554381609
NM_005045.4(RELN):c.4520A>T (p.Gln1507Leu)
NM_005045.4(RELN):c.4528A>G (p.Ile1510Val)
NM_005045.4(RELN):c.4529T>C (p.Ile1510Thr)
NM_005045.4(RELN):c.4534A>G (p.Ile1512Val)
NM_005045.4(RELN):c.4541G>A (p.Ser1514Asn)
NM_005045.4(RELN):c.4543A>G (p.Lys1515Glu) rs946390770
NM_005045.4(RELN):c.4547C>G (p.Thr1516Ser)
NM_005045.4(RELN):c.454A>G (p.Thr152Ala)
NM_005045.4(RELN):c.4556T>C (p.Ile1519Thr)
NM_005045.4(RELN):c.4560C>G (p.Thr1520=)
NM_005045.4(RELN):c.4568A>T (p.Lys1523Ile) rs749573055
NM_005045.4(RELN):c.4570C>G (p.Pro1524Ala)
NM_005045.4(RELN):c.4576A>G (p.Thr1526Ala) rs1393256777
NM_005045.4(RELN):c.4577C>G (p.Thr1526Ser) rs2117200905
NM_005045.4(RELN):c.4582A>G (p.Asn1528Asp)
NM_005045.4(RELN):c.4589-15T>C
NM_005045.4(RELN):c.4589-4T>A
NM_005045.4(RELN):c.4589-4T>G
NM_005045.4(RELN):c.4589-8del
NM_005045.4(RELN):c.4589-8dup rs751121994
NM_005045.4(RELN):c.459C>T (p.Gly153=) rs766219103
NM_005045.4(RELN):c.4601A>G (p.Gln1534Arg)
NM_005045.4(RELN):c.4602G>A (p.Gln1534=) rs2117189494
NM_005045.4(RELN):c.4609A>T (p.Asn1537Tyr) rs753346658
NM_005045.4(RELN):c.4612G>A (p.Asp1538Asn) rs1210883875
NM_005045.4(RELN):c.4613A>G (p.Asp1538Gly)
NM_005045.4(RELN):c.4621A>G (p.Ile1541Val)
NM_005045.4(RELN):c.4622T>C (p.Ile1541Thr)
NM_005045.4(RELN):c.4623A>G (p.Ile1541Met) rs1215450262
NM_005045.4(RELN):c.4630C>G (p.His1544Asp)
NM_005045.4(RELN):c.4630C>T (p.His1544Tyr) rs373010833
NM_005045.4(RELN):c.4639C>T (p.Arg1547Ter) rs2117189408
NM_005045.4(RELN):c.4645T>G (p.Leu1549Val)
NM_005045.4(RELN):c.4674G>A (p.Gln1558=) rs1030831529
NM_005045.4(RELN):c.4678A>C (p.Ile1560Leu)
NM_005045.4(RELN):c.4702G>A (p.Ala1568Thr)
NM_005045.4(RELN):c.4704G>T (p.Ala1568=) rs780749647
NM_005045.4(RELN):c.4718C>T (p.Thr1573Met) rs762922371
NM_005045.4(RELN):c.4726C>T (p.Arg1576Ter)
NM_005045.4(RELN):c.4727G>A (p.Arg1576Gln)
NM_005045.4(RELN):c.473+13del
NM_005045.4(RELN):c.473+1G>A
NM_005045.4(RELN):c.473+6T>C rs770023998
NM_005045.4(RELN):c.473+8C>T rs2116408520
NM_005045.4(RELN):c.4737A>T (p.Gln1579His) rs768948021
NM_005045.4(RELN):c.4739C>G (p.Pro1580Arg) rs1488556290
NM_005045.4(RELN):c.474-12A>G
NM_005045.4(RELN):c.474-17T>C
NM_005045.4(RELN):c.474-3C>T rs2116212304
NM_005045.4(RELN):c.4743A>G (p.Gln1581=)
NM_005045.4(RELN):c.4745A>G (p.His1582Arg) rs932665576
NM_005045.4(RELN):c.4746T>G (p.His1582Gln)
NM_005045.4(RELN):c.4747+12C>G
NM_005045.4(RELN):c.4747+18C>G
NM_005045.4(RELN):c.4747+18C>T
NM_005045.4(RELN):c.4747+5G>T
NM_005045.4(RELN):c.4748-10C>A
NM_005045.4(RELN):c.4748-12A>T rs1830753146
NM_005045.4(RELN):c.4748-14T>G
NM_005045.4(RELN):c.4748-6T>C rs1025031303
NM_005045.4(RELN):c.4751A>G (p.Lys1584Arg)
NM_005045.4(RELN):c.4760C>T (p.Ala1587Val) rs2117188595
NM_005045.4(RELN):c.4764G>C (p.Gln1588His)
NM_005045.4(RELN):c.4775A>G (p.Asp1592Gly) rs961895163
NM_005045.4(RELN):c.4777G>A (p.Asp1593Asn)
NM_005045.4(RELN):c.4793T>A (p.Met1598Lys)
NM_005045.4(RELN):c.479C>T (p.Thr160Ile) rs2116212281
NM_005045.4(RELN):c.4808A>C (p.Gln1603Pro) rs552290322
NM_005045.4(RELN):c.480A>G (p.Thr160=) rs2116212274
NM_005045.4(RELN):c.4823A>G (p.Asp1608Gly)
NM_005045.4(RELN):c.4826A>C (p.Lys1609Thr)
NM_005045.4(RELN):c.482C>A (p.Ala161Glu) rs2116212265
NM_005045.4(RELN):c.4831G>C (p.Asp1611His)
NM_005045.4(RELN):c.4832A>G (p.Asp1611Gly)
NM_005045.4(RELN):c.4833T>C (p.Asp1611=)
NM_005045.4(RELN):c.4838C>G (p.Ser1613Cys)
NM_005045.4(RELN):c.4838C>T (p.Ser1613Phe) rs201945386
NM_005045.4(RELN):c.4842A>G (p.Ile1614Met)
NM_005045.4(RELN):c.4846T>C (p.Leu1616=)
NM_005045.4(RELN):c.4848G>A (p.Leu1616=) rs200733882
NM_005045.4(RELN):c.4854C>T (p.Ala1618=)
NM_005045.4(RELN):c.4855A>G (p.Asn1619Asp) rs1830750187
NM_005045.4(RELN):c.4864C>G (p.Arg1622Gly)
NM_005045.4(RELN):c.4868T>C (p.Ile1623Thr)
NM_005045.4(RELN):c.4871A>G (p.Gln1624Arg)
NM_005045.4(RELN):c.4880A>G (p.Gln1627Arg) rs1273427587
NM_005045.4(RELN):c.4881A>C (p.Gln1627His)
NM_005045.4(RELN):c.4882G>C (p.Val1628Leu) rs1436133395
NM_005045.4(RELN):c.4883T>C (p.Val1628Ala)
NM_005045.4(RELN):c.4888A>G (p.Ile1630Val)
NM_005045.4(RELN):c.488A>G (p.His163Arg) rs2116212240
NM_005045.4(RELN):c.4891G>A (p.Asp1631Asn)
NM_005045.4(RELN):c.4904T>C (p.Met1635Thr)
NM_005045.4(RELN):c.4904_4905insA (p.Met1635fs) rs2117188195
NM_005045.4(RELN):c.4905G>A (p.Met1635Ile) rs1423049871
NM_005045.4(RELN):c.4912G>T (p.Ala1638Ser)
NM_005045.4(RELN):c.4913C>A (p.Ala1638Asp) rs1217207298
NM_005045.4(RELN):c.4914T>C (p.Ala1638=) rs2117188166
NM_005045.4(RELN):c.4926T>A (p.Thr1642=)
NM_005045.4(RELN):c.4931A>C (p.Asn1644Thr)
NM_005045.4(RELN):c.4933A>T (p.Ile1645Leu)
NM_005045.4(RELN):c.4934T>A (p.Ile1645Lys) rs537366000
NM_005045.4(RELN):c.4936+1G>T
NM_005045.4(RELN):c.4936+5A>G rs1554380236
NM_005045.4(RELN):c.4937-11T>A
NM_005045.4(RELN):c.4937-12T>C
NM_005045.4(RELN):c.4937-14_4937-12dup rs35268159
NM_005045.4(RELN):c.4937-18C>A rs771475932
NM_005045.4(RELN):c.4937-18C>T
NM_005045.4(RELN):c.4937-19A>G rs2117186745
NM_005045.4(RELN):c.4937-4del rs35268159
NM_005045.4(RELN):c.4937-4dup rs35268159
NM_005045.4(RELN):c.4937-5_4937-4dup rs35268159
NM_005045.4(RELN):c.4937-9_4937-8insG rs1584300778
NM_005045.4(RELN):c.4941A>G (p.Lys1647=) rs2117186661
NM_005045.4(RELN):c.4943C>T (p.Pro1648Leu) rs749050390
NM_005045.4(RELN):c.4945C>T (p.Arg1649Cys)
NM_005045.4(RELN):c.4949A>C (p.Tyr1650Ser)
NM_005045.4(RELN):c.4955A>C (p.Glu1652Ala)
NM_005045.4(RELN):c.4959C>T (p.Thr1653=)
NM_005045.4(RELN):c.4969C>T (p.His1657Tyr)
NM_005045.4(RELN):c.4972G>A (p.Val1658Met)
NM_005045.4(RELN):c.4979C>T (p.Ala1660Val)
NM_005045.4(RELN):c.497A>G (p.Gln166Arg) rs2116212190
NM_005045.4(RELN):c.498G>A (p.Gln166=)
NM_005045.4(RELN):c.4990T>C (p.Leu1664=) rs1830730714
NM_005045.4(RELN):c.4996T>C (p.Phe1666Leu)
NM_005045.4(RELN):c.5006G>A (p.Ser1669Asn)
NM_005045.4(RELN):c.5006G>C (p.Ser1669Thr)
NM_005045.4(RELN):c.5007C>G (p.Ser1669Arg)
NM_005045.4(RELN):c.5009_5020del (p.Met1670_Ser1673del)
NM_005045.4(RELN):c.500T>A (p.Val167Asp)
NM_005045.4(RELN):c.5011G>C (p.Gly1671Arg) rs939943472
NM_005045.4(RELN):c.5030G>A (p.Ser1677Asn) rs1830729426
NM_005045.4(RELN):c.5033A>G (p.Asn1678Ser)
NM_005045.4(RELN):c.5034C>T (p.Asn1678=)
NM_005045.4(RELN):c.5043T>C (p.Ser1681=) rs1830728823
NM_005045.4(RELN):c.5044G>A (p.Val1682Ile) rs727504125
NM_005045.4(RELN):c.5069A>G (p.Asn1690Ser)
NM_005045.4(RELN):c.5069A>T (p.Asn1690Ile) rs1830728121
NM_005045.4(RELN):c.5077G>A (p.Asp1693Asn) rs1487716758
NM_005045.4(RELN):c.5094C>T (p.Thr1698=)
NM_005045.4(RELN):c.5102G>A (p.Cys1701Tyr) rs746597375
NM_005045.4(RELN):c.5115C>G (p.Thr1705=) rs139945641
NM_005045.4(RELN):c.5115C>T (p.Thr1705=)
NM_005045.4(RELN):c.5115del (p.Ile1706fs)
NM_005045.4(RELN):c.5128C>A (p.His1710Asn) rs1830725754
NM_005045.4(RELN):c.5151C>T (p.Tyr1717=)
NM_005045.4(RELN):c.5168A>T (p.Gln1723Leu)
NM_005045.4(RELN):c.5197C>T (p.Pro1733Ser)
NM_005045.4(RELN):c.5198C>T (p.Pro1733Leu)
NM_005045.4(RELN):c.5199A>G (p.Pro1733=)
NM_005045.4(RELN):c.5204C>T (p.Ser1735Phe)
NM_005045.4(RELN):c.5207C>T (p.Thr1736Ile)
NM_005045.4(RELN):c.5210+16T>C
NM_005045.4(RELN):c.5210+6A>T rs2117185798
NM_005045.4(RELN):c.5210+9T>C
NM_005045.4(RELN):c.5210T>A (p.Ile1737Asn)
NM_005045.4(RELN):c.5210T>C (p.Ile1737Thr) rs202116849
NM_005045.4(RELN):c.5211-10_5211-7del rs34125550
NM_005045.4(RELN):c.5211-18T>G
NM_005045.4(RELN):c.5211-19_5211-18insG
NM_005045.4(RELN):c.5211-20_5211-19insG rs2117178973
NM_005045.4(RELN):c.5211-5G>C
NM_005045.4(RELN):c.5211-8T>A rs763806459
NM_005045.4(RELN):c.5211-8T>G
NM_005045.4(RELN):c.521C>A (p.Ala174Asp) rs1791748632
NM_005045.4(RELN):c.5224C>A (p.Arg1742=) rs771039313
NM_005045.4(RELN):c.5224C>T (p.Arg1742Trp)
NM_005045.4(RELN):c.523C>G (p.Gln175Glu)
NM_005045.4(RELN):c.5247C>A (p.Asn1749Lys)
NM_005045.4(RELN):c.5248_5249delinsCT (p.Tyr1750Leu) rs2117178648
NM_005045.4(RELN):c.524A>G (p.Gln175Arg)
NM_005045.4(RELN):c.5255T>C (p.Val1752Ala) rs1165004470
NM_005045.4(RELN):c.5258G>A (p.Gly1753Glu) rs1554379129
NM_005045.4(RELN):c.5260G>A (p.Ala1754Thr) rs1830650545
NM_005045.4(RELN):c.5274G>A (p.Ala1758=) rs139102992
NM_005045.4(RELN):c.527A>C (p.Gln176Pro)
NM_005045.4(RELN):c.5287G>T (p.Val1763Leu)
NM_005045.4(RELN):c.528G>A (p.Gln176=)
NM_005045.4(RELN):c.528G>T (p.Gln176His)
NM_005045.4(RELN):c.5295C>T (p.Ala1765=)
NM_005045.4(RELN):c.52_63dup (p.Gly18_Leu21dup) rs758519950
NM_005045.4(RELN):c.5303G>A (p.Cys1768Tyr)
NM_005045.4(RELN):c.5305C>T (p.Pro1769Ser)
NM_005045.4(RELN):c.531G>C (p.Leu177Phe) rs746290551
NM_005045.4(RELN):c.5323C>T (p.Arg1775Ter)
NM_005045.4(RELN):c.5329A>G (p.Ile1777Val)
NM_005045.4(RELN):c.5337T>C (p.Asp1779=)
NM_005045.4(RELN):c.5352-11C>T
NM_005045.4(RELN):c.5352-13C>T
NM_005045.4(RELN):c.5352-13CT[2]
NM_005045.4(RELN):c.5352-14C>T
NM_005045.4(RELN):c.5352-17C>A
NM_005045.4(RELN):c.5352-5C>G
NM_005045.4(RELN):c.5352G>A (p.Val1784=)
NM_005045.4(RELN):c.5360G>A (p.Arg1787Gln) rs372887562
NM_005045.4(RELN):c.5360G>C (p.Arg1787Pro) rs372887562
NM_005045.4(RELN):c.5363G>T (p.Gly1788Val)
NM_005045.4(RELN):c.5380T>C (p.Cys1794Arg)
NM_005045.4(RELN):c.5389G>T (p.Val1797Phe)
NM_005045.4(RELN):c.539A>G (p.Gln180Arg)
NM_005045.4(RELN):c.53G>T (p.Gly18Val)
NM_005045.4(RELN):c.5408T>C (p.Ile1803Thr) rs1584296775
NM_005045.4(RELN):c.5418_5420del (p.Asp1807del) rs1830643936
NM_005045.4(RELN):c.5426A>G (p.Asn1809Ser)
NM_005045.4(RELN):c.544+16G>A
NM_005045.4(RELN):c.544+5G>A
NM_005045.4(RELN):c.545-14C>T
NM_005045.4(RELN):c.545-16T>C rs2116085030
NM_005045.4(RELN):c.5455del (p.Glu1819fs)
NM_005045.4(RELN):c.5460G>T (p.Val1820=)
NM_005045.4(RELN):c.5464G>A (p.Gly1822Ser)
NM_005045.4(RELN):c.5465G>A (p.Gly1822Asp) rs141734678
NM_005045.4(RELN):c.5465G>C (p.Gly1822Ala) rs141734678
NM_005045.4(RELN):c.5466T>G (p.Gly1822=)
NM_005045.4(RELN):c.5468C>A (p.Ala1823Glu) rs1244373166
NM_005045.4(RELN):c.5474G>C (p.Arg1825Thr) rs368478306
NM_005045.4(RELN):c.5475G>A (p.Arg1825=)
NM_005045.4(RELN):c.5476G>A (p.Gly1826Arg) rs1830642360
NM_005045.4(RELN):c.5477G>A (p.Gly1826Glu)
NM_005045.4(RELN):c.5487T>C (p.Asn1829=)
NM_005045.4(RELN):c.5489del (p.Gly1830fs)
NM_005045.4(RELN):c.5499C>G (p.Ile1833Met)
NM_005045.4(RELN):c.54G>A (p.Gly18=) rs1272611137
NM_005045.4(RELN):c.5502A>G (p.Lys1834=) rs1830641622
NM_005045.4(RELN):c.5505T>C (p.Ser1835=)
NM_005045.4(RELN):c.5511A>G (p.Thr1837=)
NM_005045.4(RELN):c.5513C>G (p.Ser1838Cys)
NM_005045.4(RELN):c.5526A>G (p.Lys1842=)
NM_005045.4(RELN):c.5528G>A (p.Gly1843Glu) rs114313194
NM_005045.4(RELN):c.5528G>T (p.Gly1843Val)
NM_005045.4(RELN):c.5529+10A>C
NM_005045.4(RELN):c.5529+18T>C
NM_005045.4(RELN):c.5529+6del
NM_005045.4(RELN):c.5529+9C>T
NM_005045.4(RELN):c.5530-12T>G
NM_005045.4(RELN):c.5530-15T>C
NM_005045.4(RELN):c.5530-16A>T
NM_005045.4(RELN):c.553G>T (p.Asp185Tyr) rs1480297004
NM_005045.4(RELN):c.5540G>A (p.Arg1847Lys)
NM_005045.4(RELN):c.5541G>T (p.Arg1847Ser)
NM_005045.4(RELN):c.5545C>T (p.Leu1849Phe)
NM_005045.4(RELN):c.5546T>A (p.Leu1849His)
NM_005045.4(RELN):c.5549T>C (p.Ile1850Thr) rs1830563554
NM_005045.4(RELN):c.5553A>C (p.Ser1851=)
NM_005045.4(RELN):c.5558A>T (p.Asp1853Val)
NM_005045.4(RELN):c.5576C>T (p.Thr1859Ile)
NM_005045.4(RELN):c.5578A>T (p.Met1860Leu) rs771668501
NM_005045.4(RELN):c.5579T>C (p.Met1860Thr)
NM_005045.4(RELN):c.5580G>A (p.Met1860Ile)
NM_005045.4(RELN):c.5584G>A (p.Val1862Ile)
NM_005045.4(RELN):c.5594C>T (p.Ser1865Leu)
NM_005045.4(RELN):c.5598T>G (p.Leu1866=)
NM_005045.4(RELN):c.55G>T (p.Ala19Ser)
NM_005045.4(RELN):c.5600G>C (p.Arg1867Thr) rs1830562342
NM_005045.4(RELN):c.5606T>G (p.Ile1869Arg)
NM_005045.4(RELN):c.5613A>C (p.Lys1871Asn)
NM_005045.4(RELN):c.5614+12T>A rs1043701055
NM_005045.4(RELN):c.5614+16T>C rs1830561348
NM_005045.4(RELN):c.5614+18A>T
NM_005045.4(RELN):c.5614+7A>G rs781311910
NM_005045.4(RELN):c.5614+8T>C
NM_005045.4(RELN):c.5615-2A>G rs2117168257
NM_005045.4(RELN):c.5615-5C>T rs1185133754
NM_005045.4(RELN):c.5629T>A (p.Ser1877Thr)
NM_005045.4(RELN):c.5633A>G (p.His1878Arg)
NM_005045.4(RELN):c.5636C>T (p.Ser1879Phe)
NM_005045.4(RELN):c.563T>C (p.Val188Ala)
NM_005045.4(RELN):c.564G>A (p.Val188=)
NM_005045.4(RELN):c.5652C>A (p.Phe1884Leu)
NM_005045.4(RELN):c.5655C>T (p.Ser1885=) rs558373106
NM_005045.4(RELN):c.5660G>T (p.Ser1887Ile)
NM_005045.4(RELN):c.566A>G (p.His189Arg) rs2116084828
NM_005045.4(RELN):c.5672C>G (p.Thr1891Ser) rs750831468
NM_005045.4(RELN):c.5677C>T (p.His1893Tyr) rs1468373493
NM_005045.4(RELN):c.5679C>G (p.His1893Gln)
NM_005045.4(RELN):c.5682G>A (p.Leu1894=) rs2117168013
NM_005045.4(RELN):c.5684T>C (p.Met1895Thr) rs1584292884
NM_005045.4(RELN):c.56C>T (p.Ala19Val)
NM_005045.4(RELN):c.5711C>A (p.Thr1904Lys) rs114190729
NM_005045.4(RELN):c.5712G>A (p.Thr1904=) rs1293070633
NM_005045.4(RELN):c.5718A>G (p.Ile1906Met) rs1830539198
NM_005045.4(RELN):c.5723T>C (p.Phe1908Ser)
NM_005045.4(RELN):c.5729A>G (p.Asn1910Ser)
NM_005045.4(RELN):c.572A>T (p.His191Leu) rs918350971
NM_005045.4(RELN):c.5731G>A (p.Val1911Ile) rs1830538855
NM_005045.4(RELN):c.5742A>C (p.Pro1914=) rs973154658
NM_005045.4(RELN):c.5746A>C (p.Thr1916Pro) rs768731886
NM_005045.4(RELN):c.5746A>G (p.Thr1916Ala) rs768731886
NM_005045.4(RELN):c.5753A>G (p.Gln1918Arg) rs1830538254
NM_005045.4(RELN):c.577+13G>C
NM_005045.4(RELN):c.577+15C>T
NM_005045.4(RELN):c.577+16T>C
NM_005045.4(RELN):c.5774G>C (p.Arg1925Thr) rs779201520
NM_005045.4(RELN):c.578-12_578-11insC
NM_005045.4(RELN):c.578-17C>T
NM_005045.4(RELN):c.578-3T>G
NM_005045.4(RELN):c.578-3del rs1047136329
NM_005045.4(RELN):c.5782C>A (p.Gln1928Lys)
NM_005045.4(RELN):c.5784A>T (p.Gln1928His)
NM_005045.4(RELN):c.5786C>G (p.Pro1929Arg)
NM_005045.4(RELN):c.5788T>C (p.Tyr1930His) rs956716779
NM_005045.4(RELN):c.5797+10C>T
NM_005045.4(RELN):c.5797+11A>G rs765957925
NM_005045.4(RELN):c.5797+11A>T rs765957925
NM_005045.4(RELN):c.5797+13G>A
NM_005045.4(RELN):c.5797+18C>T
NM_005045.4(RELN):c.5797+19T>C rs202190286
NM_005045.4(RELN):c.5798-10A>G
NM_005045.4(RELN):c.5798-7G>T
NM_005045.4(RELN):c.5798G>T (p.Gly1933Val) rs1830467765
NM_005045.4(RELN):c.5802G>C (p.Lys1934Asn)
NM_005045.4(RELN):c.5804A>C (p.Lys1935Thr) rs1830467705
NM_005045.4(RELN):c.5826T>C (p.Asp1942=) rs2117160092
NM_005045.4(RELN):c.5827G>C (p.Asp1943His)
NM_005045.4(RELN):c.582A>G (p.Glu194=)
NM_005045.4(RELN):c.5838C>G (p.Ile1946Met)
NM_005045.4(RELN):c.5839G>T (p.Asp1947Tyr)
NM_005045.4(RELN):c.5856C>T (p.Asn1952=) rs375228702
NM_005045.4(RELN):c.5866A>T (p.Met1956Leu) rs1410345577
NM_005045.4(RELN):c.5876A>G (p.Asp1959Gly) rs1830465679
NM_005045.4(RELN):c.5879C>A (p.Thr1960Lys)
NM_005045.4(RELN):c.587A>G (p.His196Arg)
NM_005045.4(RELN):c.5885A>G (p.Asp1962Gly)
NM_005045.4(RELN):c.5886T>A (p.Asp1962Glu) rs2117159839
NM_005045.4(RELN):c.5889T>C (p.Phe1963=)
NM_005045.4(RELN):c.5901A>G (p.Glu1967=) rs943982931
NM_005045.4(RELN):c.5903A>T (p.Asp1968Val) rs1284690672
NM_005045.4(RELN):c.5907T>C (p.Asn1969=)
NM_005045.4(RELN):c.5909G>T (p.Trp1970Leu)
NM_005045.4(RELN):c.5918A>C (p.Tyr1973Ser)
NM_005045.4(RELN):c.5920C>G (p.Pro1974Ala)
NM_005045.4(RELN):c.5924G>A (p.Gly1975Asp)
NM_005045.4(RELN):c.5926G>A (p.Gly1976Ser)
NM_005045.4(RELN):c.592G>C (p.Asp198His)
NM_005045.4(RELN):c.5937T>A (p.Gly1979=)
NM_005045.4(RELN):c.5947C>G (p.Pro1983Ala) rs2117159651
NM_005045.4(RELN):c.5953T>G (p.Ser1985Ala) rs2117159627
NM_005045.4(RELN):c.5965G>T (p.Ala1989Ser) rs1233107226
NM_005045.4(RELN):c.5969+18A>G
NM_005045.4(RELN):c.5969+3A>G rs1290900424
NM_005045.4(RELN):c.596G>A (p.Ser199Asn)
NM_005045.4(RELN):c.5970-11C>A
NM_005045.4(RELN):c.5970-14T>C
NM_005045.4(RELN):c.5970-15T>G
NM_005045.4(RELN):c.5970-17G>A
NM_005045.4(RELN):c.5970-17_5970-15del
NM_005045.4(RELN):c.5970-7G>A rs755935071
NM_005045.4(RELN):c.5982A>G (p.Ser1994=) rs1387852441
NM_005045.4(RELN):c.5987T>C (p.Met1996Thr)
NM_005045.4(RELN):c.5989G>T (p.Val1997Leu)
NM_005045.4(RELN):c.5A>G (p.Glu2Gly)
NM_005045.4(RELN):c.6015G>A (p.Glu2005=) rs1287656164
NM_005045.4(RELN):c.6017A>T (p.His2006Leu)
NM_005045.4(RELN):c.601A>G (p.Ile201Val)
NM_005045.4(RELN):c.6020C>A (p.Ser2007Tyr) rs1830456753
NM_005045.4(RELN):c.602T>C (p.Ile201Thr)
NM_005045.4(RELN):c.6042T>C (p.Asn2014=)
NM_005045.4(RELN):c.6048T>G (p.Asn2016Lys)
NM_005045.4(RELN):c.6068_6072+20del
NM_005045.4(RELN):c.6072+9C>G
NM_005045.4(RELN):c.6073-12T>C
NM_005045.4(RELN):c.6073-14del
NM_005045.4(RELN):c.6073-19T>G
NM_005045.4(RELN):c.6077A>G (p.Asn2026Ser) rs1830405923
NM_005045.4(RELN):c.6081T>C (p.Val2027=) rs2117153642
NM_005045.4(RELN):c.6083G>A (p.Gly2028Asp) rs1584287058
NM_005045.4(RELN):c.6090G>A (p.Ser2030=)
NM_005045.4(RELN):c.60G>C (p.Thr20=)
NM_005045.4(RELN):c.6108G>A (p.Ala2036=)
NM_005045.4(RELN):c.6109G>T (p.Asp2037Tyr)
NM_005045.4(RELN):c.6110A>G (p.Asp2037Gly)
NM_005045.4(RELN):c.6115G>C (p.Val2039Leu)
NM_005045.4(RELN):c.6117G>A (p.Val2039=) rs987328360
NM_005045.4(RELN):c.6120A>G (p.Arg2040=)
NM_005045.4(RELN):c.6121C>G (p.Leu2041Val) rs1425847673
NM_005045.4(RELN):c.6121C>T (p.Leu2041=) rs1425847673
NM_005045.4(RELN):c.6127T>C (p.Phe2043Leu) rs2117153454
NM_005045.4(RELN):c.6134G>C (p.Arg2045Thr)
NM_005045.4(RELN):c.6142G>A (p.Gly2048Arg) rs1359142697
NM_005045.4(RELN):c.6146C>A (p.Ala2049Glu) rs374232523
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val) rs374232523
NM_005045.4(RELN):c.6148A>G (p.Thr2050Ala) rs2117153371
NM_005045.4(RELN):c.6156C>T (p.His2052=) rs2117153360
NM_005045.4(RELN):c.6166C>A (p.Pro2056Thr)
NM_005045.4(RELN):c.6169C>T (p.Leu2057Phe)
NM_005045.4(RELN):c.6173G>A (p.Cys2058Tyr)
NM_005045.4(RELN):c.6175T>G (p.Tyr2059Asp)
NM_005045.4(RELN):c.6179A>G (p.His2060Arg) rs1830402483
NM_005045.4(RELN):c.6180C>T (p.His2060=) rs753051747
NM_005045.4(RELN):c.6185G>A (p.Ser2062Asn)
NM_005045.4(RELN):c.6190C>G (p.His2064Asp) rs767258528
NM_005045.4(RELN):c.61C>T (p.Leu21=) rs1797172669
NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs) rs1830401647
NM_005045.4(RELN):c.6216G>A (p.Glu2072=)
NM_005045.4(RELN):c.6225C>T (p.Pro2075=)
NM_005045.4(RELN):c.6233C>T (p.Thr2078Ile)
NM_005045.4(RELN):c.6244G>A (p.Gly2082Arg)
NM_005045.4(RELN):c.6245G>T (p.Gly2082Val) rs2117153080
NM_005045.4(RELN):c.6254A>C (p.Gln2085Pro)
NM_005045.4(RELN):c.6254A>G (p.Gln2085Arg)
NM_005045.4(RELN):c.6267G>A (p.Arg2089=)
NM_005045.4(RELN):c.6270G>A (p.Glu2090=)
NM_005045.4(RELN):c.6271G>T (p.Val2091Phe)
NM_005045.4(RELN):c.6274G>C (p.Val2092Leu) rs752081680
NM_005045.4(RELN):c.6276G>A (p.Val2092=) rs2117152985
NM_005045.4(RELN):c.6279C>A (p.His2093Gln) rs1830399411
NM_005045.4(RELN):c.6279C>T (p.His2093=) rs1830399411
NM_005045.4(RELN):c.627C>T (p.Tyr209=) rs2116064464
NM_005045.4(RELN):c.6285G>A (p.Gly2095=)
NM_005045.4(RELN):c.6296T>C (p.Leu2099Pro)
NM_005045.4(RELN):c.62T>C (p.Leu21Pro)
NM_005045.4(RELN):c.6301G>A (p.Gly2101Arg)
NM_005045.4(RELN):c.6302+11G>C rs763643417
NM_005045.4(RELN):c.6302+11G>T
NM_005045.4(RELN):c.6302+8C>T
NM_005045.4(RELN):c.6303-19G>A
NM_005045.4(RELN):c.6303-7T>C rs2117140163
NM_005045.4(RELN):c.6307G>A (p.Val2103Ile)
NM_005045.4(RELN):c.6327G>A (p.Gln2109=)
NM_005045.4(RELN):c.6338_6342dup (p.Gly2115fs)
NM_005045.4(RELN):c.6346T>C (p.Ser2116Pro)
NM_005045.4(RELN):c.6352C>G (p.Pro2118Ala) rs2117140020
NM_005045.4(RELN):c.6356T>C (p.Val2119Ala)
NM_005045.4(RELN):c.6366C>T (p.Ala2122=) rs2117139992
NM_005045.4(RELN):c.6367A>G (p.Ile2123Val)
NM_005045.4(RELN):c.6368T>C (p.Ile2123Thr) rs2117139982
NM_005045.4(RELN):c.6375T>C (p.Asn2125=)
NM_005045.4(RELN):c.6385G>A (p.Gly2129Ser) rs1228682428
NM_005045.4(RELN):c.6386G>A (p.Gly2129Asp)
NM_005045.4(RELN):c.6393G>A (p.Gln2131=)
NM_005045.4(RELN):c.6397GAG[1] (p.Glu2134del) rs1420723549
NM_005045.4(RELN):c.6404T>A (p.Met2135Lys)
NM_005045.4(RELN):c.6405G>A (p.Met2135Ile)
NM_005045.4(RELN):c.6414A>T (p.Gly2138=)
NM_005045.4(RELN):c.641T>C (p.Leu214Ser) rs2116064367
NM_005045.4(RELN):c.6420G>A (p.Gly2140=) rs1830265807
NM_005045.4(RELN):c.6425G>A (p.Cys2142Tyr)
NM_005045.4(RELN):c.6429C>T (p.Ile2143=) rs1554374836
NM_005045.4(RELN):c.642A>C (p.Leu214Phe)
NM_005045.4(RELN):c.6431A>T (p.Asn2144Ile) rs776658515
NM_005045.4(RELN):c.6445A>G (p.Ile2149Val) rs2117139774
NM_005045.4(RELN):c.6447A>T (p.Ile2149=) rs2117139766
NM_005045.4(RELN):c.6450T>C (p.Cys2150=)
NM_005045.4(RELN):c.6454C>T (p.Pro2152Ser) rs1830265054
NM_005045.4(RELN):c.6459C>T (p.Gly2153=) rs1221972784
NM_005045.4(RELN):c.6463T>C (p.Ser2155Pro)
NM_005045.4(RELN):c.6464C>A (p.Ser2155Ter)
NM_005045.4(RELN):c.6474del (p.Cys2159fs) rs2117139699
NM_005045.4(RELN):c.6506T>C (p.Leu2169Pro) rs1830259342
NM_005045.4(RELN):c.6523+11C>G rs556879542
NM_005045.4(RELN):c.6524-11A>T
NM_005045.4(RELN):c.6526C>T (p.Gln2176Ter)
NM_005045.4(RELN):c.6528G>T (p.Gln2176His) rs1830203883
NM_005045.4(RELN):c.652A>G (p.Ile218Val)
NM_005045.4(RELN):c.653T>C (p.Ile218Thr)
NM_005045.4(RELN):c.6541A>C (p.Arg2181=)
NM_005045.4(RELN):c.654A>G (p.Ile218Met)
NM_005045.4(RELN):c.6552A>C (p.Leu2184Phe)
NM_005045.4(RELN):c.6554T>A (p.Met2185Lys) rs2117134647
NM_005045.4(RELN):c.6558T>G (p.Ser2186Arg) rs2117134632
NM_005045.4(RELN):c.656+10A>G
NM_005045.4(RELN):c.656+11G>A
NM_005045.4(RELN):c.656+15C>T
NM_005045.4(RELN):c.656+7dup rs768445353
NM_005045.4(RELN):c.6561T>C (p.Gly2187=)
NM_005045.4(RELN):c.6563G>C (p.Gly2188Ala)
NM_005045.4(RELN):c.6564G>C (p.Gly2188=) rs2117134600
NM_005045.4(RELN):c.657-13T>C rs2115935052
NM_005045.4(RELN):c.657-14C>A
NM_005045.4(RELN):c.657-3C>T
NM_005045.4(RELN):c.6574C>T (p.Arg2192Ter)
NM_005045.4(RELN):c.6575G>A (p.Arg2192Gln)
NM_005045.4(RELN):c.6575G>C (p.Arg2192Pro) rs1309424440
NM_005045.4(RELN):c.6576A>T (p.Arg2192=) rs1228407959
NM_005045.4(RELN):c.6580T>C (p.Cys2194Arg)
NM_005045.4(RELN):c.65G>A (p.Arg22Lys) rs139532757
NM_005045.4(RELN):c.6603C>A (p.Asn2201Lys) rs1830202355
NM_005045.4(RELN):c.6606C>T (p.Asn2202=)
NM_005045.4(RELN):c.6607C>T (p.Leu2203Phe) rs1296074586
NM_005045.4(RELN):c.6609C>T (p.Leu2203=)
NM_005045.4(RELN):c.6616A>G (p.Asn2206Asp) rs1200171328
NM_005045.4(RELN):c.6617A>G (p.Asn2206Ser) rs1830201721
NM_005045.4(RELN):c.6624T>C (p.Asp2208=) rs775403428
NM_005045.4(RELN):c.6629T>C (p.Leu2210Ser)
NM_005045.4(RELN):c.6630G>A (p.Leu2210=) rs2117134402
NM_005045.4(RELN):c.6631C>T (p.Arg2211Cys)
NM_005045.4(RELN):c.663A>T (p.Glu221Asp) rs1355761301
NM_005045.4(RELN):c.6644C>T (p.Thr2215Ile) rs2117134357
NM_005045.4(RELN):c.6651C>T (p.Asp2217=)
NM_005045.4(RELN):c.665G>A (p.Cys222Tyr)
NM_005045.4(RELN):c.6671+18C>A rs2117134234
NM_005045.4(RELN):c.6671+20_6671+21del rs2117134222
NM_005045.4(RELN):c.6671+4A>T rs1830200491
NM_005045.4(RELN):c.6671+5T>C
NM_005045.4(RELN):c.6672-12T>C
NM_005045.4(RELN):c.6672-14T>C rs2117129927
NM_005045.4(RELN):c.6672-16C>A rs79610318
NM_005045.4(RELN):c.668A>G (p.Asn223Ser)
NM_005045.4(RELN):c.669C>G (p.Asn223Lys) rs773006128
NM_005045.4(RELN):c.6712G>A (p.Val2238Ile)
NM_005045.4(RELN):c.6721C>T (p.Pro2241Ser) rs1830152580
NM_005045.4(RELN):c.6722C>T (p.Pro2241Leu) rs1830152521
NM_005045.4(RELN):c.6723C>T (p.Pro2241=) rs2117129751
NM_005045.4(RELN):c.6727A>G (p.Ser2243Gly)
NM_005045.4(RELN):c.6731A>G (p.Gln2244Arg)
NM_005045.4(RELN):c.6735C>G (p.Pro2245=) rs1158442529
NM_005045.4(RELN):c.6736G>T (p.Val2246Leu)
NM_005045.4(RELN):c.6747G>A (p.Gln2249=)
NM_005045.4(RELN):c.6747G>T (p.Gln2249His) rs1197417084
NM_005045.4(RELN):c.6752C>G (p.Ser2251Cys) rs2117129658
NM_005045.4(RELN):c.6753T>C (p.Ser2251=)
NM_005045.4(RELN):c.6756C>A (p.Leu2252=)
NM_005045.4(RELN):c.6756C>T (p.Leu2252=) rs773766190
NM_005045.4(RELN):c.6759C>A (p.Asn2253Lys) rs548135273
NM_005045.4(RELN):c.675T>G (p.Cys225Trp)
NM_005045.4(RELN):c.675_676del (p.Cys225_Glu226delinsTer)
NM_005045.4(RELN):c.6760G>A (p.Gly2254Ser)
NM_005045.4(RELN):c.6760G>T (p.Gly2254Cys)
NM_005045.4(RELN):c.6766C>T (p.Leu2256Phe)
NM_005045.4(RELN):c.6767T>C (p.Leu2256Pro)
NM_005045.4(RELN):c.6769T>C (p.Ser2257Pro)
NM_005045.4(RELN):c.6775A>G (p.Ser2259Gly)
NM_005045.4(RELN):c.6787G>T (p.Glu2263Ter)
NM_005045.4(RELN):c.678G>A (p.Glu226=) rs1790261623
NM_005045.4(RELN):c.67G>A (p.Ala23Thr)
NM_005045.4(RELN):c.6814G>A (p.Val2272Met) rs2117129475
NM_005045.4(RELN):c.6814G>C (p.Val2272Leu)
NM_005045.4(RELN):c.6818G>A (p.Gly2273Asp) rs1830149876
NM_005045.4(RELN):c.6819C>A (p.Gly2273=)
NM_005045.4(RELN):c.6826A>G (p.Ile2276Val)
NM_005045.4(RELN):c.6839T>A (p.Ile2280Lys) rs1584276518
NM_005045.4(RELN):c.6842C>T (p.Pro2281Leu)
NM_005045.4(RELN):c.6843C>T (p.Pro2281=)
NM_005045.4(RELN):c.6844T>C (p.Leu2282=) rs2117129395
NM_005045.4(RELN):c.684A>G (p.Gly228=)
NM_005045.4(RELN):c.6850G>A (p.Ala2284Thr)
NM_005045.4(RELN):c.6854G>A (p.Arg2285His) rs116394157
NM_005045.4(RELN):c.6855T>C (p.Arg2285=) rs2117129357
NM_005045.4(RELN):c.6871C>T (p.Leu2291Phe) rs1830148402
NM_005045.4(RELN):c.6875G>T (p.Arg2292Leu)
NM_005045.4(RELN):c.6880T>A (p.Trp2294Arg)
NM_005045.4(RELN):c.6888G>T (p.Pro2296=) rs142792443
NM_005045.4(RELN):c.68C>T (p.Ala23Val)
NM_005045.4(RELN):c.6908A>G (p.Tyr2303Cys)
NM_005045.4(RELN):c.690G>C (p.Gln230His) rs1302068842
NM_005045.4(RELN):c.6912C>T (p.Ser2304=) rs2117129177
NM_005045.4(RELN):c.6927T>G (p.Asp2309Glu) rs779047538
NM_005045.4(RELN):c.6929A>G (p.Gln2310Arg) rs2117129132
NM_005045.4(RELN):c.6930+7C>T rs1341176883
NM_005045.4(RELN):c.6931-15A>T
NM_005045.4(RELN):c.6931-16T>A rs1229118503
NM_005045.4(RELN):c.6931-16dup
NM_005045.4(RELN):c.6931-8C>G
NM_005045.4(RELN):c.6931-8C>T rs2117127131
NM_005045.4(RELN):c.6933T>C (p.Ile2311=)
NM_005045.4(RELN):c.6962C>A (p.Thr2321Lys)
NM_005045.4(RELN):c.6963G>A (p.Thr2321=) rs577520481
NM_005045.4(RELN):c.6963G>T (p.Thr2321=)
NM_005045.4(RELN):c.696C>T (p.Gly232=)
NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn) rs768054802
NM_005045.4(RELN):c.6977A>G (p.Asp2326Gly) rs1830124301
NM_005045.4(RELN):c.6989T>C (p.Leu2330Pro) rs2117126990
NM_005045.4(RELN):c.6999G>A (p.Arg2333=)
NM_005045.4(RELN):c.7012C>T (p.His2338Tyr) rs2117126938
NM_005045.4(RELN):c.7013A>T (p.His2338Leu)
NM_005045.4(RELN):c.7015C>T (p.Pro2339Ser)
NM_005045.4(RELN):c.7016C>A (p.Pro2339Gln)
NM_005045.4(RELN):c.7020A>T (p.Gly2340=) rs776285507
NM_005045.4(RELN):c.7022G>A (p.Gly2341Asp) rs1830123310
NM_005045.4(RELN):c.7043G>A (p.Gly2348Asp) rs1226611405
NM_005045.4(RELN):c.7054G>A (p.Asp2352Asn)
NM_005045.4(RELN):c.7054G>T (p.Asp2352Tyr) rs375751630
NM_005045.4(RELN):c.7059C>T (p.Ala2353=)
NM_005045.4(RELN):c.7063G>T (p.Val2355Phe) rs1442114983
NM_005045.4(RELN):c.7085C>T (p.Thr2362Ile) rs749494726
NM_005045.4(RELN):c.7088G>A (p.Arg2363His)
NM_005045.4(RELN):c.708T>C (p.His236=) rs1790260665
NM_005045.4(RELN):c.7092C>T (p.Tyr2364=) rs1161199450
NM_005045.4(RELN):c.7093G>C (p.Val2365Leu)
NM_005045.4(RELN):c.7097T>A (p.Val2366Asp) rs1830121221
NM_005045.4(RELN):c.7102A>G (p.Thr2368Ala)
NM_005045.4(RELN):c.7109T>C (p.Val2370Ala)
NM_005045.4(RELN):c.7110_7111inv (p.Ala2371Thr)
NM_005045.4(RELN):c.7113C>T (p.Ala2371=) rs756738550
NM_005045.4(RELN):c.7117A>C (p.Asn2373His)
NM_005045.4(RELN):c.7119T>G (p.Asn2373Lys) rs1830120492
NM_005045.4(RELN):c.714T>C (p.Asn238=)
NM_005045.4(RELN):c.7163T>C (p.Val2388Ala)
NM_005045.4(RELN):c.7164C>G (p.Val2388=)
NM_005045.4(RELN):c.7164C>T (p.Val2388=)
NM_005045.4(RELN):c.7172C>G (p.Ser2391Cys) rs2117126476
NM_005045.4(RELN):c.7180+11C>A
NM_005045.4(RELN):c.7180+11C>T
NM_005045.4(RELN):c.7180+12G>C
NM_005045.4(RELN):c.7180+1G>T rs2117126444
NM_005045.4(RELN):c.7180+7A>G rs1830119075
NM_005045.4(RELN):c.7180G>A (p.Ala2394Thr)
NM_005045.4(RELN):c.7181-13T>C
NM_005045.4(RELN):c.7181-17_7181-15del
NM_005045.4(RELN):c.7188A>G (p.Glu2396=) rs776781331
NM_005045.4(RELN):c.7189T>C (p.Leu2397=)
NM_005045.4(RELN):c.7201G>A (p.Val2401Ile)
NM_005045.4(RELN):c.7224C>T (p.His2408=)
NM_005045.4(RELN):c.7231G>A (p.Val2411Ile) rs375160285
NM_005045.4(RELN):c.7243C>G (p.Leu2415Val)
NM_005045.4(RELN):c.7256T>C (p.Val2419Ala) rs777442978
NM_005045.4(RELN):c.7266T>A (p.Ser2422Arg)
NM_005045.4(RELN):c.7267C>A (p.Arg2423Ser)
NM_005045.4(RELN):c.7270T>C (p.Tyr2424His)
NM_005045.4(RELN):c.7276C>T (p.Leu2426=)
NM_005045.4(RELN):c.7281A>G (p.Gln2427=) rs1830026530
NM_005045.4(RELN):c.7283G>A (p.Arg2428Gln) rs948422815
NM_005045.4(RELN):c.7287C>A (p.Ile2429=) rs915583909
NM_005045.4(RELN):c.728G>C (p.Cys243Ser)
NM_005045.4(RELN):c.7290G>A (p.Leu2430=)
NM_005045.4(RELN):c.7305C>G (p.Phe2435Leu)
NM_005045.4(RELN):c.7305CAA[1] (p.Asn2436del) rs1830026038
NM_005045.4(RELN):c.7316C>T (p.Thr2439Ile)
NM_005045.4(RELN):c.732A>G (p.Glu244=) rs2115934532
NM_005045.4(RELN):c.7344T>C (p.Tyr2448=) rs2117118185
NM_005045.4(RELN):c.7349+10C>T rs1830024784
NM_005045.4(RELN):c.7349+13C>G
NM_005045.4(RELN):c.7349+13C>T
NM_005045.4(RELN):c.7349+9G>A
NM_005045.4(RELN):c.7350-10T>A rs751104633
NM_005045.4(RELN):c.7350-13A>G
NM_005045.4(RELN):c.7350-14C>T rs113913170
NM_005045.4(RELN):c.7350-16C>A
NM_005045.4(RELN):c.7350-16C>G
NM_005045.4(RELN):c.7350-16C>T
NM_005045.4(RELN):c.7350-6dup rs1325259154
NM_005045.4(RELN):c.7350-8C>T rs2117095032
NM_005045.4(RELN):c.7365T>C (p.Arg2455=)
NM_005045.4(RELN):c.7366T>C (p.Phe2456Leu)
NM_005045.4(RELN):c.7368C>T (p.Phe2456=)
NM_005045.4(RELN):c.7369C>T (p.Arg2457Cys)
NM_005045.4(RELN):c.7370G>A (p.Arg2457His) rs371157614
NM_005045.4(RELN):c.7376A>G (p.His2459Arg)
NM_005045.4(RELN):c.7383A>G (p.Pro2461=)
NM_005045.4(RELN):c.7384G>C (p.Ala2462Pro)
NM_005045.4(RELN):c.7386_7387delinsAA (p.Pro2463Thr)
NM_005045.4(RELN):c.7414A>G (p.Ile2472Val)
NM_005045.4(RELN):c.7419T>A (p.Asp2473Glu)
NM_005045.4(RELN):c.7427A>T (p.Tyr2476Phe)
NM_005045.4(RELN):c.7431C>A (p.Ile2477=) rs775529885
NM_005045.4(RELN):c.7432G>A (p.Gly2478Arg)
NM_005045.4(RELN):c.7436A>G (p.Asp2479Gly)
NM_005045.4(RELN):c.7445T>C (p.Ile2482Thr) rs1193227613
NM_005045.4(RELN):c.7460G>C (p.Gly2487Ala)
NM_005045.4(RELN):c.7475T>C (p.Ile2492Thr)
NM_005045.4(RELN):c.7480G>A (p.Gly2494Arg)
NM_005045.4(RELN):c.7484A>T (p.Asn2495Ile)
NM_005045.4(RELN):c.748G>A (p.Glu250Lys) rs199961531
NM_005045.4(RELN):c.7490+13T>C
NM_005045.4(RELN):c.7490+16dup rs761790873
NM_005045.4(RELN):c.7490+8G>A
NM_005045.4(RELN):c.7490+8G>T
NM_005045.4(RELN):c.7490+9G>T
NM_005045.4(RELN):c.7491-12C>A rs371778831
NM_005045.4(RELN):c.7491-12C>G rs371778831
NM_005045.4(RELN):c.7491-12C>T
NM_005045.4(RELN):c.7491-15T>A
NM_005045.4(RELN):c.7491-5C>T
NM_005045.4(RELN):c.7491-6A>G
NM_005045.4(RELN):c.7491-8G>A
NM_005045.4(RELN):c.7498G>A (p.Glu2500Lys) rs1554369707
NM_005045.4(RELN):c.7511G>A (p.Gly2504Asp)
NM_005045.4(RELN):c.753+20G>A
NM_005045.4(RELN):c.754-13C>A
NM_005045.4(RELN):c.754-20A>G
NM_005045.4(RELN):c.7540C>T (p.Leu2514Phe) rs1829722994
NM_005045.4(RELN):c.7577C>T (p.Pro2526Leu) rs1829721999
NM_005045.4(RELN):c.7587G>A (p.Gln2529=)
NM_005045.4(RELN):c.7590C>T (p.Asn2530=)
NM_005045.4(RELN):c.7599T>G (p.Thr2533=)
NM_005045.4(RELN):c.7601T>C (p.Val2534Ala)
NM_005045.4(RELN):c.7602G>A (p.Val2534=) rs2117092146
NM_005045.4(RELN):c.7605C>A (p.Asn2535Lys) rs750764421
NM_005045.4(RELN):c.7605C>T (p.Asn2535=) rs750764421
NM_005045.4(RELN):c.7615T>C (p.Leu2539=)
NM_005045.4(RELN):c.7617G>C (p.Leu2539Phe)
NM_005045.4(RELN):c.7624G>C (p.Val2542Leu) rs1829720851
NM_005045.4(RELN):c.7625T>C (p.Val2542Ala)
NM_005045.4(RELN):c.7626G>A (p.Val2542=) rs2117092082
NM_005045.4(RELN):c.7632A>G (p.Gly2544=)
NM_005045.4(RELN):c.7636G>A (p.Val2546Met)
NM_005045.4(RELN):c.7643C>T (p.Ser2548Leu)
NM_005045.4(RELN):c.7644G>C (p.Ser2548=)
NM_005045.4(RELN):c.7648A>G (p.Met2550Val) rs1829719853
NM_005045.4(RELN):c.765C>T (p.Gly255=)
NM_005045.4(RELN):c.7660T>C (p.Phe2554Leu) rs2117091992
NM_005045.4(RELN):c.7668+15G>A
NM_005045.4(RELN):c.7668+8_7668+9delinsAG rs1584261648
NM_005045.4(RELN):c.7668+9T>C
NM_005045.4(RELN):c.7668G>A (p.Gly2556=)
NM_005045.4(RELN):c.7668G>C (p.Gly2556=) rs1554369642
NM_005045.4(RELN):c.7669-11C>A rs1379560978
NM_005045.4(RELN):c.7669-31_7669-20del
NM_005045.4(RELN):c.7669-5C>T
NM_005045.4(RELN):c.7678C>A (p.Arg2560=) rs1829651533
NM_005045.4(RELN):c.7678C>T (p.Arg2560Ter)
NM_005045.4(RELN):c.7696G>A (p.Asp2566Asn)
NM_005045.4(RELN):c.7700T>G (p.Leu2567Arg) rs2117085948
NM_005045.4(RELN):c.7703A>G (p.Asn2568Ser) rs1227007493
NM_005045.4(RELN):c.7722C>A (p.Phe2574Leu) rs2117085900
NM_005045.4(RELN):c.7725C>T (p.Ile2575=) rs2117085893
NM_005045.4(RELN):c.7739T>A (p.Met2580Lys)
NM_005045.4(RELN):c.773C>T (p.Thr258Ile) rs1790120421
NM_005045.4(RELN):c.7742A>G (p.Tyr2581Cys)
NM_005045.4(RELN):c.7752G>A (p.Leu2584=) rs2117085861
NM_005045.4(RELN):c.7759C>T (p.Pro2587Ser)
NM_005045.4(RELN):c.7799T>C (p.Val2600Ala)
NM_005045.4(RELN):c.7803T>C (p.Asn2601=)
NM_005045.4(RELN):c.780A>C (p.Thr260=) rs1420888480
NM_005045.4(RELN):c.7815C>T (p.Thr2605=)
NM_005045.4(RELN):c.7821C>A (p.Asn2607Lys)
NM_005045.4(RELN):c.7821C>G (p.Asn2607Lys)
NM_005045.4(RELN):c.7821C>T (p.Asn2607=)
NM_005045.4(RELN):c.7828A>C (p.Met2610Leu) rs200076453
NM_005045.4(RELN):c.782C>T (p.Ala261Val)
NM_005045.4(RELN):c.7834A>C (p.Ile2612Leu)
NM_005045.4(RELN):c.7834A>G (p.Ile2612Val) rs768772335
NM_005045.4(RELN):c.7839C>G (p.Phe2613Leu)
NM_005045.4(RELN):c.7843G>A (p.Asp2615Asn) rs772130779
NM_005045.4(RELN):c.7851C>T (p.Tyr2617=)
NM_005045.4(RELN):c.7852A>G (p.Ser2618Gly)
NM_005045.4(RELN):c.7858C>A (p.Pro2620Thr)
NM_005045.4(RELN):c.7862+11G>A rs753148540
NM_005045.4(RELN):c.7862+11G>C
NM_005045.4(RELN):c.7862+12A>G
NM_005045.4(RELN):c.7862+7A>G rs922719168
NM_005045.4(RELN):c.7863-13C>A
NM_005045.4(RELN):c.7863-13C>T
NM_005045.4(RELN):c.7863-18C>A
NM_005045.4(RELN):c.7863-18C>T rs750003552
NM_005045.4(RELN):c.7863-19C>T
NM_005045.4(RELN):c.7863-21_7863-17del rs764158104
NM_005045.4(RELN):c.7863-4A>G
NM_005045.4(RELN):c.7863-6C>T rs778281268
NM_005045.4(RELN):c.7882C>A (p.Pro2628Thr)
NM_005045.4(RELN):c.7886C>G (p.Pro2629Arg)
NM_005045.4(RELN):c.7886C>T (p.Pro2629Leu)
NM_005045.4(RELN):c.7887_7888inv (p.Asp2630Asn)
NM_005045.4(RELN):c.7899G>A (p.Glu2633=)
NM_005045.4(RELN):c.789C>T (p.Val263=)
NM_005045.4(RELN):c.78G>C (p.Ala26=) rs1196068638
NM_005045.4(RELN):c.7903G>T (p.Ala2635Ser) rs143751470
NM_005045.4(RELN):c.7909C>A (p.Arg2637Ser)
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys) rs587780438
NM_005045.4(RELN):c.7911C>T (p.Arg2637=) rs2117076458
NM_005045.4(RELN):c.7917C>T (p.Arg2639=) rs1318247052
NM_005045.4(RELN):c.7934A>C (p.His2645Pro)
NM_005045.4(RELN):c.7949A>G (p.Gln2650Arg)
NM_005045.4(RELN):c.794A>G (p.Gln265Arg) rs2115907767
NM_005045.4(RELN):c.7959G>C (p.Trp2653Cys)
NM_005045.4(RELN):c.7960G>A (p.Ala2654Thr) rs200915887
NM_005045.4(RELN):c.7966G>A (p.Asp2656Asn)
NM_005045.4(RELN):c.7968C>T (p.Asp2656=) rs2117076324
NM_005045.4(RELN):c.7970A>G (p.Asn2657Ser)
NM_005045.4(RELN):c.7983A>G (p.Ser2661=) rs2117076292
NM_005045.4(RELN):c.7993G>A (p.Asp2665Asn)
NM_005045.4(RELN):c.79G>A (p.Ala27Thr) rs2116860341
NM_005045.4(RELN):c.8002A>G (p.Thr2668Ala) rs1829535471
NM_005045.4(RELN):c.8009T>C (p.Met2670Thr) rs550287694
NM_005045.4(RELN):c.8011C>T (p.Leu2671=)
NM_005045.4(RELN):c.8025C>T (p.Ser2675=)
NM_005045.4(RELN):c.8027G>A (p.Ser2676Asn)
NM_005045.4(RELN):c.8027G>C (p.Ser2676Thr) rs1829534533
NM_005045.4(RELN):c.8031C>G (p.Ala2677=) rs775819927
NM_005045.4(RELN):c.8031C>T (p.Ala2677=)
NM_005045.4(RELN):c.8035G>C (p.Val2679Leu)
NM_005045.4(RELN):c.803T>C (p.Ile268Thr)
NM_005045.4(RELN):c.8041C>T (p.Gln2681Ter)
NM_005045.4(RELN):c.8046_8047inv (p.Glu2683Lys)
NM_005045.4(RELN):c.8047G>T (p.Glu2683Ter) rs1829533362
NM_005045.4(RELN):c.805+13dup
NM_005045.4(RELN):c.805+18G>A
NM_005045.4(RELN):c.805+18G>T
NM_005045.4(RELN):c.805+1G>T
NM_005045.4(RELN):c.805+8T>A
NM_005045.4(RELN):c.805+8T>C
NM_005045.4(RELN):c.8050C>T (p.Arg2684Cys)
NM_005045.4(RELN):c.8053T>C (p.Ser2685Pro) rs766349515
NM_005045.4(RELN):c.806-19T>C
NM_005045.4(RELN):c.806-4A>G
NM_005045.4(RELN):c.806-8A>C rs1314193916
NM_005045.4(RELN):c.8061A>G (p.Ala2687=)
NM_005045.4(RELN):c.8066C>T (p.Ala2689Val) rs762107181
NM_005045.4(RELN):c.8067C>T (p.Ala2689=)
NM_005045.4(RELN):c.8068G>C (p.Gly2690Arg)
NM_005045.4(RELN):c.8073T>C (p.Pro2691=) rs775986044
NM_005045.4(RELN):c.8074G>T (p.Val2692Phe)
NM_005045.4(RELN):c.8077G>A (p.Gly2693Arg)
NM_005045.4(RELN):c.8082G>C (p.Arg2694Ser) rs746311326
NM_005045.4(RELN):c.8083A>C (p.Ile2695Leu) rs1829531529
NM_005045.4(RELN):c.8094C>T (p.Asp2698=)
NM_005045.4(RELN):c.8097G>A (p.Met2699Ile) rs1829531012
NM_005045.4(RELN):c.8114C>T (p.Thr2705Ile) rs1554368281
NM_005045.4(RELN):c.8118A>G (p.Ser2706=)
NM_005045.4(RELN):c.8119+11C>T
NM_005045.4(RELN):c.8119+16C>A
NM_005045.4(RELN):c.8119+19T>C
NM_005045.4(RELN):c.8119+6T>G rs767551473
NM_005045.4(RELN):c.8119+7T>A
NM_005045.4(RELN):c.8119+8A>G
NM_005045.4(RELN):c.8119+8A>T
NM_005045.4(RELN):c.8119+9T>C
NM_005045.4(RELN):c.8120-11T>G
NM_005045.4(RELN):c.8120-13T>C
NM_005045.4(RELN):c.8120-15T>G rs1829393118
NM_005045.4(RELN):c.8120-16_8120-13del rs1248948471
NM_005045.4(RELN):c.8120-9del rs774679180
NM_005045.4(RELN):c.8120-9dup
NM_005045.4(RELN):c.8121G>A (p.Val2707=) rs1345247825
NM_005045.4(RELN):c.8121G>C (p.Val2707=)
NM_005045.4(RELN):c.8123A>C (p.Asn2708Thr) rs1829391748
NM_005045.4(RELN):c.8128C>T (p.His2710Tyr)
NM_005045.4(RELN):c.8130C>A (p.His2710Gln)
NM_005045.4(RELN):c.8154A>T (p.Thr2718=) rs1554367205
NM_005045.4(RELN):c.8155G>A (p.Val2719Ile)
NM_005045.4(RELN):c.8159A>G (p.Glu2720Gly) rs1829390259
NM_005045.4(RELN):c.8171A>T (p.Asp2724Val)
NM_005045.4(RELN):c.8181T>A (p.Asp2727Glu)
NM_005045.4(RELN):c.8181T>C (p.Asp2727=)
NM_005045.4(RELN):c.8183G>A (p.Gly2728Asp)
NM_005045.4(RELN):c.8195G>T (p.Cys2732Phe) rs777843062
NM_005045.4(RELN):c.8198G>A (p.Gly2733Asp) rs1296648504
NM_005045.4(RELN):c.8203C>T (p.His2735Tyr) rs1219212571
NM_005045.4(RELN):c.8205T>C (p.His2735=)
NM_005045.4(RELN):c.820C>T (p.Arg274Cys)
NM_005045.4(RELN):c.8210G>A (p.Gly2737Glu)
NM_005045.4(RELN):c.8213G>A (p.Arg2738Gln) rs141115137
NM_005045.4(RELN):c.8213G>C (p.Arg2738Pro)
NM_005045.4(RELN):c.8213G>T (p.Arg2738Leu)
NM_005045.4(RELN):c.8215G>C (p.Glu2739Gln)
NM_005045.4(RELN):c.8218G>A (p.Val2740Met)
NM_005045.4(RELN):c.8225C>T (p.Ala2742Val)
NM_005045.4(RELN):c.8238C>T (p.Asp2746=)
NM_005045.4(RELN):c.8241G>A (p.Leu2747=) rs1829385355
NM_005045.4(RELN):c.8247C>A (p.Pro2749=)
NM_005045.4(RELN):c.8249C>T (p.Thr2750Ile)
NM_005045.4(RELN):c.8254G>A (p.Gly2752Ser) rs968146584
NM_005045.4(RELN):c.8259G>C (p.Trp2753Cys)
NM_005045.4(RELN):c.8263A>G (p.Met2755Val)
NM_005045.4(RELN):c.8268A>G (p.Gln2756=) rs143469522
NM_005045.4(RELN):c.8271C>T (p.Phe2757=)
NM_005045.4(RELN):c.8274+12T>C
NM_005045.4(RELN):c.8274+16C>T
NM_005045.4(RELN):c.8274+8G>T
NM_005045.4(RELN):c.8275-16T>C rs1028987409
NM_005045.4(RELN):c.8275-16T>G
NM_005045.4(RELN):c.8275-9_8275-6del rs748736976
NM_005045.4(RELN):c.827G>C (p.Ser276Thr)
NM_005045.4(RELN):c.8281G>T (p.Val2761Phe) rs1829094065
NM_005045.4(RELN):c.8288G>A (p.Cys2763Tyr)
NM_005045.4(RELN):c.8306T>C (p.Ile2769Thr) rs997515801
NM_005045.4(RELN):c.8314A>C (p.Asn2772His)
NM_005045.4(RELN):c.8315A>T (p.Asn2772Ile)
NM_005045.4(RELN):c.831T>C (p.Tyr277=) rs398124192
NM_005045.4(RELN):c.8325T>C (p.His2775=)
NM_005045.4(RELN):c.8327T>G (p.Val2776Gly)
NM_005045.4(RELN):c.832T>C (p.Ser278Pro) rs2115796319
NM_005045.4(RELN):c.8330A>T (p.Gln2777Leu)
NM_005045.4(RELN):c.8335T>A (p.Ser2779Thr) rs1829091955
NM_005045.4(RELN):c.8339C>T (p.Thr2780Ile)
NM_005045.4(RELN):c.8346C>T (p.Phe2782=)
NM_005045.4(RELN):c.8371C>T (p.Pro2791Ser) rs2117039679
NM_005045.4(RELN):c.837C>A (p.Asp279Glu) rs1295965524
NM_005045.4(RELN):c.8386G>A (p.Ala2796Thr)
NM_005045.4(RELN):c.838C>G (p.Pro280Ala) rs2115796279
NM_005045.4(RELN):c.8390A>G (p.Asp2797Gly) rs1829089680
NM_005045.4(RELN):c.8391C>G (p.Asp2797Glu) rs1829089585
NM_005045.4(RELN):c.8392C>T (p.Pro2798Ser)
NM_005045.4(RELN):c.8398T>C (p.Cys2800Arg)
NM_005045.4(RELN):c.8404G>C (p.Gly2802Arg)
NM_005045.4(RELN):c.8408G>A (p.Ser2803Asn)
NM_005045.4(RELN):c.8411T>C (p.Val2804Ala) rs192835206
NM_005045.4(RELN):c.8414C>T (p.Ser2805Phe)
NM_005045.4(RELN):c.8421A>G (p.Pro2807=)
NM_005045.4(RELN):c.8424T>A (p.Ser2808=) rs776860509
NM_005045.4(RELN):c.8424T>C (p.Ser2808=)
NM_005045.4(RELN):c.8430C>A (p.Phe2810Leu)
NM_005045.4(RELN):c.8433del (p.Pro2812fs)
NM_005045.4(RELN):c.8438C>A (p.Thr2813Asn)
NM_005045.4(RELN):c.8439T>A (p.Thr2813=)
NM_005045.4(RELN):c.843C>A (p.Ser281Arg)
NM_005045.4(RELN):c.843C>T (p.Ser281=) rs1277811940
NM_005045.4(RELN):c.8440A>G (p.Lys2814Glu) rs2117039456
NM_005045.4(RELN):c.8445G>A (p.Gly2815=) rs1156230944
NM_005045.4(RELN):c.8445G>T (p.Gly2815=)
NM_005045.4(RELN):c.844A>G (p.Ile282Val) rs753624426
NM_005045.4(RELN):c.8452A>G (p.Arg2818Gly)
NM_005045.4(RELN):c.8453G>T (p.Arg2818Met)
NM_005045.4(RELN):c.8470C>T (p.Pro2824Ser) rs1224908089
NM_005045.4(RELN):c.8486G>A (p.Gly2829Glu)
NM_005045.4(RELN):c.8489+15A>G
NM_005045.4(RELN):c.8489+8G>A rs967424047
NM_005045.4(RELN):c.8490-11A>G
NM_005045.4(RELN):c.8490-24_8490-20dup
NM_005045.4(RELN):c.8490-8G>A
NM_005045.4(RELN):c.8492C>T (p.Pro2831Leu)
NM_005045.4(RELN):c.8494G>C (p.Val2832Leu)
NM_005045.4(RELN):c.8495T>C (p.Val2832Ala) rs1257978206
NM_005045.4(RELN):c.8500T>C (p.Phe2834Leu)
NM_005045.4(RELN):c.8516A>G (p.Lys2839Arg)
NM_005045.4(RELN):c.8534G>T (p.Trp2845Leu)
NM_005045.4(RELN):c.8537C>T (p.Ala2846Val)
NM_005045.4(RELN):c.8539A>G (p.Ile2847Val)
NM_005045.4(RELN):c.8544T>C (p.Asp2848=) rs1829003681
NM_005045.4(RELN):c.854T>C (p.Leu285Ser)
NM_005045.4(RELN):c.8551T>C (p.Tyr2851His)
NM_005045.4(RELN):c.8575A>G (p.Asn2859Asp) rs1829002656
NM_005045.4(RELN):c.8577C>T (p.Asn2859=) rs1162398803
NM_005045.4(RELN):c.8578T>G (p.Cys2860Gly) rs1829002405
NM_005045.4(RELN):c.857A>G (p.Tyr286Cys)
NM_005045.4(RELN):c.8583G>A (p.Arg2861=)
NM_005045.4(RELN):c.8590G>A (p.Gly2864Arg) rs1456617471
NM_005045.4(RELN):c.859G>A (p.Ala287Thr)
NM_005045.4(RELN):c.859G>T (p.Ala287Ser)
NM_005045.4(RELN):c.8602A>G (p.Arg2868Gly)
NM_005045.4(RELN):c.8604G>C (p.Arg2868Ser)
NM_005045.4(RELN):c.8605G>C (p.Glu2869Gln)
NM_005045.4(RELN):c.8614A>G (p.Ile2872Val) rs765151646
NM_005045.4(RELN):c.8616C>T (p.Ile2872=)
NM_005045.4(RELN):c.8624C>G (p.Pro2875Arg) rs761738403
NM_005045.4(RELN):c.862A>G (p.Lys288Glu) rs1834077767
NM_005045.4(RELN):c.8632_8642del (p.Ser2878fs)
NM_005045.4(RELN):c.8640A>C (p.Pro2880=) rs369307806
NM_005045.4(RELN):c.8651T>C (p.Leu2884Ser) rs1829000128
NM_005045.4(RELN):c.8653A>T (p.Thr2885Ser)
NM_005045.4(RELN):c.8656C>T (p.His2886Tyr) rs749712401
NM_005045.4(RELN):c.8657A>G (p.His2886Arg) rs778109079
NM_005045.4(RELN):c.865A>G (p.Asn289Asp) rs1562962642
NM_005045.4(RELN):c.8663T>C (p.Leu2888Pro)
NM_005045.4(RELN):c.8664G>C (p.Leu2888=)
NM_005045.4(RELN):c.8667+17G>C rs749919235
NM_005045.4(RELN):c.8667+6G>A
NM_005045.4(RELN):c.8668-13A>C
NM_005045.4(RELN):c.8668-16C>T
NM_005045.4(RELN):c.8668-9_8668-5del rs756964380
NM_005045.4(RELN):c.8668A>G (p.Thr2890Ala)
NM_005045.4(RELN):c.8672T>A (p.Phe2891Tyr) rs752516448
NM_005045.4(RELN):c.8673C>A (p.Phe2891Leu) rs200157006
NM_005045.4(RELN):c.8673C>T (p.Phe2891=) rs200157006
NM_005045.4(RELN):c.8683C>A (p.Arg2895Ser)
NM_005045.4(RELN):c.8683C>T (p.Arg2895Cys)
NM_005045.4(RELN):c.8684G>A (p.Arg2895His)
NM_005045.4(RELN):c.8691C>T (p.Asp2897=) rs763188823
NM_005045.4(RELN):c.8698G>T (p.Glu2900Ter)
NM_005045.4(RELN):c.8710G>T (p.Asp2904Tyr) rs1828900147
NM_005045.4(RELN):c.8716T>C (p.Trp2906Arg)
NM_005045.4(RELN):c.8723C>T (p.Ser2908Phe)
NM_005045.4(RELN):c.8732G>A (p.Gly2911Asp)
NM_005045.4(RELN):c.8732G>T (p.Gly2911Val)
NM_005045.4(RELN):c.8737A>G (p.Ser2913Gly) rs2117025482
NM_005045.4(RELN):c.874G>C (p.Ala292Pro) rs1478514178
NM_005045.4(RELN):c.875C>G (p.Ala292Gly) rs138975479
NM_005045.4(RELN):c.8775T>C (p.Thr2925=)
NM_005045.4(RELN):c.8779C>G (p.Leu2927Val)
NM_005045.4(RELN):c.8792G>A (p.Gly2931Glu) rs1465519249
NM_005045.4(RELN):c.8799T>C (p.Thr2933=)
NM_005045.4(RELN):c.8809G>A (p.Ala2937Thr) rs750491016
NM_005045.4(RELN):c.8810C>T (p.Ala2937Val) rs765433534
NM_005045.4(RELN):c.8812G>A (p.Val2938Ile)
NM_005045.4(RELN):c.8825T>G (p.Leu2942Trp)
NM_005045.4(RELN):c.8827G>C (p.Asp2943His) rs1828895929
NM_005045.4(RELN):c.883A>G (p.Ile295Val) rs1834076706
NM_005045.4(RELN):c.8843+16del rs2117025123
NM_005045.4(RELN):c.8843+2T>C
NM_005045.4(RELN):c.8844-11C>T rs1015958070
NM_005045.4(RELN):c.8844-11del
NM_005045.4(RELN):c.8861G>A (p.Gly2954Glu)
NM_005045.4(RELN):c.8864G>A (p.Arg2955His)
NM_005045.4(RELN):c.8879ACA[1] (p.Asn2961del)
NM_005045.4(RELN):c.8882A>C (p.Asn2961Thr)
NM_005045.4(RELN):c.8888C>T (p.Thr2963Ile)
NM_005045.4(RELN):c.88T>C (p.Tyr30His)
NM_005045.4(RELN):c.8912G>A (p.Arg2971Gln) rs1562852978
NM_005045.4(RELN):c.8920G>A (p.Gly2974Ser)
NM_005045.4(RELN):c.8922C>T (p.Gly2974=) rs544687307
NM_005045.4(RELN):c.892G>A (p.Glu298Lys) rs563525929
NM_005045.4(RELN):c.8930T>C (p.Leu2977Ser)
NM_005045.4(RELN):c.8934C>T (p.Asp2978=)
NM_005045.4(RELN):c.893A>C (p.Glu298Ala)
NM_005045.4(RELN):c.8943C>A (p.Thr2981=) rs199505446
NM_005045.4(RELN):c.8943C>T (p.Thr2981=)
NM_005045.4(RELN):c.8949A>G (p.Gly2983=)
NM_005045.4(RELN):c.8950+11G>A
NM_005045.4(RELN):c.8950+11G>C
NM_005045.4(RELN):c.8950+12G>A
NM_005045.4(RELN):c.8950+18A>T
NM_005045.4(RELN):c.8950+4T>A
NM_005045.4(RELN):c.8950+4T>C
NM_005045.4(RELN):c.8950+9C>T rs1378125232
NM_005045.4(RELN):c.8951-11_8951-8dup rs1554364085
NM_005045.4(RELN):c.8951-15T>C
NM_005045.4(RELN):c.8951-15del
NM_005045.4(RELN):c.8951-17T>C rs2117021559
NM_005045.4(RELN):c.8951-4A>G
NM_005045.4(RELN):c.8953A>G (p.Ile2985Val)
NM_005045.4(RELN):c.8957C>T (p.Thr2986Ile)
NM_005045.4(RELN):c.8962A>T (p.Thr2988Ser)
NM_005045.4(RELN):c.8963C>T (p.Thr2988Ile)
NM_005045.4(RELN):c.8966T>C (p.Leu2989Ser) rs2117021480
NM_005045.4(RELN):c.8967G>T (p.Leu2989Phe) rs1828853834
NM_005045.4(RELN):c.8973T>C (p.His2991=)
NM_005045.4(RELN):c.8995A>C (p.Ile2999Leu)
NM_005045.4(RELN):c.89A>G (p.Tyr30Cys)
NM_005045.4(RELN):c.8G>T (p.Arg3Leu) rs2116860662
NM_005045.4(RELN):c.9005G>C (p.Arg3002Thr) rs758922383
NM_005045.4(RELN):c.9009C>G (p.His3003Gln) rs750882329
NM_005045.4(RELN):c.9018A>G (p.Ile3006Met)
NM_005045.4(RELN):c.902+20A>G
NM_005045.4(RELN):c.902+7T>A
NM_005045.4(RELN):c.902+7del
NM_005045.4(RELN):c.9022C>T (p.Leu3008Phe) rs2117021193
NM_005045.4(RELN):c.9027T>G (p.Pro3009=)
NM_005045.4(RELN):c.9030_9032del (p.Glu3010del) rs1828851549
NM_005045.4(RELN):c.9032A>G (p.Asp3011Gly)
NM_005045.4(RELN):c.9042C>A (p.Thr3014=)
NM_005045.4(RELN):c.9052C>T (p.Arg3018Ter) rs2117021067
NM_005045.4(RELN):c.9053G>A (p.Arg3018Gln) rs1828850685
NM_005045.4(RELN):c.9053G>T (p.Arg3018Leu) rs1828850685
NM_005045.4(RELN):c.9081C>T (p.Ile3027=)
NM_005045.4(RELN):c.9095T>A (p.Val3032Glu)
NM_005045.4(RELN):c.9095T>C (p.Val3032Ala) rs1828849563
NM_005045.4(RELN):c.90C>T (p.Tyr30=)
NM_005045.4(RELN):c.9108G>A (p.Val3036=)
NM_005045.4(RELN):c.911C>G (p.Ser304Cys)
NM_005045.4(RELN):c.911C>T (p.Ser304Phe)
NM_005045.4(RELN):c.9127C>A (p.Leu3043Met)
NM_005045.4(RELN):c.913A>G (p.Asn305Asp)
NM_005045.4(RELN):c.915T>A (p.Asn305Lys)
NM_005045.4(RELN):c.9172T>A (p.Leu3058Met) rs2286261
NM_005045.4(RELN):c.9177G>A (p.Val3059=)
NM_005045.4(RELN):c.917T>C (p.Val306Ala)
NM_005045.4(RELN):c.9193+10A>G
NM_005045.4(RELN):c.9193+14C>T
NM_005045.4(RELN):c.9193+15_9193+17del
NM_005045.4(RELN):c.9193+16T>C rs186738390
NM_005045.4(RELN):c.9194-10T>A rs1242391167
NM_005045.4(RELN):c.9194-17C>G
NM_005045.4(RELN):c.9194-18T>C
NM_005045.4(RELN):c.9194-20C>T
NM_005045.4(RELN):c.9194-43_9194-7del rs767897798
NM_005045.4(RELN):c.9194-80CAAGAGAATAATATGCCATATTGCTTCCAATTTTCCT[3] rs767897798
NM_005045.4(RELN):c.9205C>A (p.His3069Asn) rs1828826425
NM_005045.4(RELN):c.9206A>C (p.His3069Pro)
NM_005045.4(RELN):c.921C>T (p.Ser307=)
NM_005045.4(RELN):c.9222T>C (p.Ser3074=) rs771439100
NM_005045.4(RELN):c.9230C>T (p.Pro3077Leu) rs2117018752
NM_005045.4(RELN):c.9233A>G (p.Asn3078Ser)
NM_005045.4(RELN):c.9235G>T (p.Ala3079Ser)
NM_005045.4(RELN):c.9237_9248del (p.Val3080_Ala3083del) rs2117018688
NM_005045.4(RELN):c.9248C>A (p.Ala3083Glu)
NM_005045.4(RELN):c.9248C>G (p.Ala3083Gly) rs1828825003
NM_005045.4(RELN):c.9263A>G (p.Asn3088Ser)
NM_005045.4(RELN):c.9274C>T (p.His3092Tyr)
NM_005045.4(RELN):c.9276C>T (p.His3092=) rs794727768
NM_005045.4(RELN):c.9289A>G (p.Asn3097Asp) rs2117018592
NM_005045.4(RELN):c.9291T>C (p.Asn3097=)
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005045.4(RELN):c.929T>A (p.Ile310Asn) rs1351187654
NM_005045.4(RELN):c.92C>T (p.Pro31Leu) rs759623259
NM_005045.4(RELN):c.930C>G (p.Ile310Met)
NM_005045.4(RELN):c.930C>T (p.Ile310=)
NM_005045.4(RELN):c.9318T>C (p.Ala3106=)
NM_005045.4(RELN):c.9319C>G (p.Leu3107Val) rs764063544
NM_005045.4(RELN):c.9327C>G (p.Ser3109=) rs1193632741
NM_005045.4(RELN):c.9327C>T (p.Ser3109=) rs1193632741
NM_005045.4(RELN):c.9328C>G (p.Arg3110Gly)
NM_005045.4(RELN):c.932A>G (p.His311Arg) rs766323203
NM_005045.4(RELN):c.9343C>T (p.Gln3115Ter)
NM_005045.4(RELN):c.9347C>T (p.Pro3116Leu) rs1166597421
NM_005045.4(RELN):c.9357G>A (p.Met3119Ile)
NM_005045.4(RELN):c.9360G>A (p.Met3120Ile)
NM_005045.4(RELN):c.9363G>A (p.Gln3121=)
NM_005045.4(RELN):c.9369+11G>A
NM_005045.4(RELN):c.9369+16T>C
NM_005045.4(RELN):c.9369+18_9369+19insG
NM_005045.4(RELN):c.9369+6G>A
NM_005045.4(RELN):c.9370-13_9370-12del rs1828690313
NM_005045.4(RELN):c.9370-13_9370-8del rs141397961
NM_005045.4(RELN):c.9370-17_9370-14del rs769041611
NM_005045.4(RELN):c.9370-18T>A rs755641286
NM_005045.4(RELN):c.9370-20A>T
NM_005045.4(RELN):c.9370-6T>C rs199771713
NM_005045.4(RELN):c.9370-7G>C rs1584226513
NM_005045.4(RELN):c.9379G>T (p.Gly3127Cys)
NM_005045.4(RELN):c.9384T>C (p.Cys3128=) rs2117007355
NM_005045.4(RELN):c.9394T>G (p.Ser3132Ala) rs2117007337
NM_005045.4(RELN):c.9398GTG[1] (p.Gly3134del)
NM_005045.4(RELN):c.9406C>G (p.Leu3136Val) rs767535167
NM_005045.4(RELN):c.9419T>G (p.Met3140Arg)
NM_005045.4(RELN):c.941A>G (p.Tyr314Cys) rs770001337
NM_005045.4(RELN):c.9423G>T (p.Leu3141=) rs1022912314
NM_005045.4(RELN):c.9438T>C (p.Asp3146=)
NM_005045.4(RELN):c.9439G>A (p.Ala3147Thr) rs150485168
NM_005045.4(RELN):c.9439G>T (p.Ala3147Ser) rs150485168
NM_005045.4(RELN):c.9442A>C (p.Arg3148=)
NM_005045.4(RELN):c.9443+13A>C
NM_005045.4(RELN):c.9443+3T>G
NM_005045.4(RELN):c.9443+4T>C rs1828687122
NM_005045.4(RELN):c.9444-10G>T rs575743816
NM_005045.4(RELN):c.9444-11G>A
NM_005045.4(RELN):c.9444-11G>T
NM_005045.4(RELN):c.9444-12dup
NM_005045.4(RELN):c.9444-17C>G
NM_005045.4(RELN):c.9444-9T>C
NM_005045.4(RELN):c.9444A>G (p.Arg3148=) rs1277733317
NM_005045.4(RELN):c.9447G>C (p.Ser3149=) rs770503009
NM_005045.4(RELN):c.9447G>T (p.Ser3149=)
NM_005045.4(RELN):c.9448G>T (p.Asp3150Tyr)
NM_005045.4(RELN):c.9459G>C (p.Gln3153His) rs1554362509
NM_005045.4(RELN):c.9460C>T (p.Leu3154Phe)
NM_005045.4(RELN):c.9466C>G (p.Gln3156Glu)
NM_005045.4(RELN):c.9468G>A (p.Gln3156=) rs1340943020
NM_005045.4(RELN):c.946C>T (p.Pro316Ser)
NM_005045.4(RELN):c.9474dup (p.Cys3159fs)
NM_005045.4(RELN):c.9480T>C (p.Leu3160=) rs2117002286
NM_005045.4(RELN):c.9480T>G (p.Leu3160=)
NM_005045.4(RELN):c.9486C>T (p.Ser3162=) rs775810751
NM_005045.4(RELN):c.9492T>A (p.Ser3164=)
NM_005045.4(RELN):c.9497G>A (p.Ser3166Asn) rs1828622359
NM_005045.4(RELN):c.9499A>T (p.Ile3167Phe) rs2117002216
NM_005045.4(RELN):c.9505T>G (p.Cys3169Gly) rs1394617861
NM_005045.4(RELN):c.9507C>T (p.Cys3169=)
NM_005045.4(RELN):c.9510C>T (p.Ser3170=)
NM_005045.4(RELN):c.951G>A (p.Glu317=) rs1834015310
NM_005045.4(RELN):c.9520T>C (p.Phe3174Leu)
NM_005045.4(RELN):c.9525T>C (p.His3175=) rs1241219063
NM_005045.4(RELN):c.9528A>G (p.Glu3176=)
NM_005045.4(RELN):c.9531C>T (p.Ala3177=) rs750621529
NM_005045.4(RELN):c.954C>G (p.Asp318Glu) rs776804213
NM_005045.4(RELN):c.954C>T (p.Asp318=) rs776804213
NM_005045.4(RELN):c.9605+16A>T
NM_005045.4(RELN):c.9605+4G>C rs1338699707
NM_005045.4(RELN):c.9605+6T>C rs376881823
NM_005045.4(RELN):c.9605+9C>G
NM_005045.4(RELN):c.9606-10G>A
NM_005045.4(RELN):c.9606-10G>T rs776436361
NM_005045.4(RELN):c.9606-13G>A
NM_005045.4(RELN):c.9606-14T>C
NM_005045.4(RELN):c.9606-15C>T
NM_005045.4(RELN):c.9606-17C>G
NM_005045.4(RELN):c.9606-3C>T rs376550183
NM_005045.4(RELN):c.9606-6_9606-3dup
NM_005045.4(RELN):c.9611C>T (p.Thr3204Ile)
NM_005045.4(RELN):c.9615G>T (p.Gln3205His) rs2116999262
NM_005045.4(RELN):c.9620G>A (p.Arg3207His) rs992226248
NM_005045.4(RELN):c.9627C>A (p.Ile3209=)
NM_005045.4(RELN):c.9628C>G (p.Gln3210Glu)
NM_005045.4(RELN):c.9629A>G (p.Gln3210Arg)
NM_005045.4(RELN):c.9635G>A (p.Gly3212Glu)
NM_005045.4(RELN):c.9651G>T (p.Lys3217Asn)
NM_005045.4(RELN):c.9654A>C (p.Gln3218His)
NM_005045.4(RELN):c.9657C>G (p.Ser3219Arg) rs1828587974
NM_005045.4(RELN):c.9659G>T (p.Trp3220Leu)
NM_005045.4(RELN):c.9665T>C (p.Ile3222Thr) rs1828587696
NM_005045.4(RELN):c.966G>A (p.Glu322=)
NM_005045.4(RELN):c.9670C>T (p.His3224Tyr)
NM_005045.4(RELN):c.9678C>T (p.Tyr3226=)
NM_005045.4(RELN):c.9688G>A (p.Ala3230Thr)
NM_005045.4(RELN):c.9689C>T (p.Ala3230Val) rs1828586673
NM_005045.4(RELN):c.96C>G (p.Arg32=) rs2116860269
NM_005045.4(RELN):c.9709G>A (p.Gly3237Arg) rs1584222460
NM_005045.4(RELN):c.9715G>A (p.Gly3239Arg) rs1220775268
NM_005045.4(RELN):c.9718T>C (p.Tyr3240His)
NM_005045.4(RELN):c.9726G>A (p.Thr3242=) rs370000503
NM_005045.4(RELN):c.9726G>C (p.Thr3242=) rs370000503
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005045.4(RELN):c.9730G>C (p.Gly3244Arg) rs73714410
NM_005045.4(RELN):c.9744C>A (p.Ile3248=) rs2116998809
NM_005045.4(RELN):c.9763+20A>G
NM_005045.4(RELN):c.9763+3C>G rs398124195
NM_005045.4(RELN):c.9764-10T>C
NM_005045.4(RELN):c.9764-10del rs777831069
NM_005045.4(RELN):c.9764-20G>A
NM_005045.4(RELN):c.9764-5T>G
NM_005045.4(RELN):c.976T>C (p.Phe326Leu) rs1009178108
NM_005045.4(RELN):c.9783C>T (p.Phe3261=)
NM_005045.4(RELN):c.978T>C (p.Phe326=)
NM_005045.4(RELN):c.9793C>A (p.Leu3265Ile)
NM_005045.4(RELN):c.9794T>C (p.Leu3265Pro)
NM_005045.4(RELN):c.9796C>T (p.Pro3266Ser) rs544906913
NM_005045.4(RELN):c.9802T>C (p.Tyr3268His)
NM_005045.4(RELN):c.9804T>C (p.Tyr3268=)
NM_005045.4(RELN):c.9809A>T (p.Lys3270Ile)
NM_005045.4(RELN):c.9816T>C (p.Asn3272=)
NM_005045.4(RELN):c.9818T>C (p.Phe3273Ser) rs1828440525
NM_005045.4(RELN):c.9826G>T (p.Ala3276Ser)
NM_005045.4(RELN):c.982T>C (p.Trp328Arg) rs2115780980
NM_005045.4(RELN):c.9837C>G (p.Thr3279=) rs202224350
NM_005045.4(RELN):c.9837C>T (p.Thr3279=) rs202224350
NM_005045.4(RELN):c.9840G>T (p.Glu3280Asp)
NM_005045.4(RELN):c.9855C>T (p.Thr3285=)
NM_005045.4(RELN):c.9857T>A (p.Ile3286Asn) rs1828439294
NM_005045.4(RELN):c.9861A>G (p.Gln3287=)
NM_005045.4(RELN):c.986A>T (p.Lys329Met) rs1834014175
NM_005045.4(RELN):c.9879T>C (p.Ser3293=)
NM_005045.4(RELN):c.9880G>A (p.Gly3294Ser)
NM_005045.4(RELN):c.9884G>A (p.Cys3295Tyr)
NM_005045.4(RELN):c.9887G>A (p.Gly3296Glu)
NM_005045.4(RELN):c.9888G>A (p.Gly3296=)
NM_005045.4(RELN):c.9897C>A (p.Ala3299=) rs773445172
NM_005045.4(RELN):c.9904G>A (p.Ala3302Thr)
NM_005045.4(RELN):c.9909T>C (p.His3303=)
NM_005045.4(RELN):c.9912A>G (p.Gly3304=)
NM_005045.4(RELN):c.9930T>C (p.Asn3310=) rs1586472746
NM_005045.4(RELN):c.9938A>G (p.Gln3313Arg)
NM_005045.4(RELN):c.9944G>A (p.Arg3315Lys)
NM_005045.4(RELN):c.994A>G (p.Asn332Asp)
NM_005045.4(RELN):c.9951A>G (p.Ala3317=) rs1586472713
NM_005045.4(RELN):c.9958A>C (p.Lys3320Gln)
NM_005045.4(RELN):c.9962C>G (p.Pro3321Arg) rs1828434848
NM_005045.4(RELN):c.9973A>G (p.Thr3325Ala)
NM_005045.4(RELN):c.9975T>G (p.Thr3325=) rs1586472688
NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter) rs751409835
NM_005045.4(RELN):c.9979G>A (p.Ala3327Thr)
NM_005045.4(RELN):c.997C>G (p.Leu333Val) rs1219491053
NM_005045.4(RELN):c.9983+15A>C
NM_005045.4(RELN):c.9983+15A>G
NM_005045.4(RELN):c.9983+16T>C
NM_005045.4(RELN):c.9983+5C>A rs1210513203
NM_005045.4(RELN):c.9983+5C>T
NM_005045.4(RELN):c.9984-15C>G
NM_005045.4(RELN):c.9990C>T (p.Ile3330=)
NM_005045.4(RELN):c.9991A>G (p.Met3331Val) rs1554360669
NM_006270.5(RRAS):c.115G>T (p.Gly39Cys) rs1349125359
NM_006270.5(RRAS):c.124A>G (p.Lys42Glu)
NM_006270.5(RRAS):c.12_13delinsAA (p.Ala5Thr)
NM_006270.5(RRAS):c.147C>A (p.Phe49Leu) rs2081014653
NM_006270.5(RRAS):c.153+10C>A
NM_006270.5(RRAS):c.153+17C>A rs376005750
NM_006270.5(RRAS):c.153+18G>A
NM_006270.5(RRAS):c.154-10A>T
NM_006270.5(RRAS):c.154-6C>T
NM_006270.5(RRAS):c.162C>T (p.Phe54=)
NM_006270.5(RRAS):c.182C>A (p.Thr61Asn)
NM_006270.5(RRAS):c.198C>T (p.Tyr66=)
NM_006270.5(RRAS):c.1A>C (p.Met1Leu)
NM_006270.5(RRAS):c.1A>G (p.Met1Val)
NM_006270.5(RRAS):c.1A>T (p.Met1Leu)
NM_006270.5(RRAS):c.209G>A (p.Cys70Tyr)
NM_006270.5(RRAS):c.227C>T (p.Pro76Leu) rs756447228
NM_006270.5(RRAS):c.231C>A (p.Ala77=) rs557964716
NM_006270.5(RRAS):c.241+17T>C
NM_006270.5(RRAS):c.241+20A>G
NM_006270.5(RRAS):c.241+5G>A rs2081000124
NM_006270.5(RRAS):c.241+6G>A rs925991568
NM_006270.5(RRAS):c.241+6G>C rs925991568
NM_006270.5(RRAS):c.242-12_242-11del
NM_006270.5(RRAS):c.242-17del
NM_006270.5(RRAS):c.242-4G>A
NM_006270.5(RRAS):c.242-8C>G
NM_006270.5(RRAS):c.252C>T (p.Thr84=)
NM_006270.5(RRAS):c.253G>A (p.Ala85Thr)
NM_006270.5(RRAS):c.254C>T (p.Ala85Val)
NM_006270.5(RRAS):c.262del (p.Glu88fs)
NM_006270.5(RRAS):c.270C>T (p.Phe90=)
NM_006270.5(RRAS):c.274G>A (p.Ala92Thr)
NM_006270.5(RRAS):c.286C>T (p.Gln96Ter)
NM_006270.5(RRAS):c.288G>A (p.Gln96=)
NM_006270.5(RRAS):c.289T>C (p.Tyr97His)
NM_006270.5(RRAS):c.28G>A (p.Gly10Arg)
NM_006270.5(RRAS):c.292A>G (p.Met98Val)
NM_006270.5(RRAS):c.295C>A (p.Arg99Ser)
NM_006270.5(RRAS):c.295C>T (p.Arg99Cys)
NM_006270.5(RRAS):c.29G>C (p.Gly10Ala) rs2081015676
NM_006270.5(RRAS):c.2T>A (p.Met1Lys) rs928367564
NM_006270.5(RRAS):c.2T>G (p.Met1Arg)
NM_006270.5(RRAS):c.306C>T (p.His102=)
NM_006270.5(RRAS):c.30G>C (p.Gly10=) rs901769495
NM_006270.5(RRAS):c.319G>A (p.Val107Met)
NM_006270.5(RRAS):c.337C>T (p.Arg113Trp)
NM_006270.5(RRAS):c.344+19G>C
NM_006270.5(RRAS):c.345-14G>A
NM_006270.5(RRAS):c.345-15C>T
NM_006270.5(RRAS):c.345-19_345-18del rs2122419483
NM_006270.5(RRAS):c.345-5C>T
NM_006270.5(RRAS):c.353A>G (p.Glu118Gly)
NM_006270.5(RRAS):c.354G>T (p.Glu118Asp)
NM_006270.5(RRAS):c.356T>G (p.Val119Gly) rs2122419368
NM_006270.5(RRAS):c.360C>T (p.Gly120=)
NM_006270.5(RRAS):c.367T>A (p.Phe123Ile)
NM_006270.5(RRAS):c.371C>G (p.Thr124Arg) rs369508242
NM_006270.5(RRAS):c.382C>T (p.Arg128Trp) rs1379523599
NM_006270.5(RRAS):c.393C>T (p.Asp131=)
NM_006270.5(RRAS):c.395G>A (p.Arg132His)
NM_006270.5(RRAS):c.403T>C (p.Phe135Leu)
NM_006270.5(RRAS):c.408C>G (p.Pro136=) rs114187560
NM_006270.5(RRAS):c.412G>T (p.Val138Leu) rs2122419131
NM_006270.5(RRAS):c.420C>T (p.Val140=)
NM_006270.5(RRAS):c.42C>T (p.Pro14=) rs1354856207
NM_006270.5(RRAS):c.436C>A (p.Leu146Met)
NM_006270.5(RRAS):c.438G>T (p.Leu146=) rs1599813671
NM_006270.5(RRAS):c.43C>A (p.Arg15=) rs544651800
NM_006270.5(RRAS):c.43C>G (p.Arg15Gly)
NM_006270.5(RRAS):c.449G>C (p.Arg150Pro) rs1017555483
NM_006270.5(RRAS):c.44G>A (p.Arg15Gln)
NM_006270.5(RRAS):c.44G>C (p.Arg15Pro)
NM_006270.5(RRAS):c.453+16_453+17del
NM_006270.5(RRAS):c.453+17T>C
NM_006270.5(RRAS):c.453+18T>C rs2122418915
NM_006270.5(RRAS):c.453+7G>A rs2122418958
NM_006270.5(RRAS):c.454-10dup
NM_006270.5(RRAS):c.454-11C>G
NM_006270.5(RRAS):c.454-11_454-10delinsTG
NM_006270.5(RRAS):c.454-12C>T
NM_006270.5(RRAS):c.454-13C>T
NM_006270.5(RRAS):c.454-20C>T
NM_006270.5(RRAS):c.454-4C>T
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.454-7C>T rs2122417189
NM_006270.5(RRAS):c.454-9T>A rs1490597941
NM_006270.5(RRAS):c.454G>A (p.Val152Ile)
NM_006270.5(RRAS):c.454G>C (p.Val152Leu)
NM_006270.5(RRAS):c.465A>C (p.Ser155=)
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) rs760978291
NM_006270.5(RRAS):c.473C>T (p.Ser158Phe)
NM_006270.5(RRAS):c.475G>C (p.Ala159Pro)
NM_006270.5(RRAS):c.480C>T (p.Phe160=)
NM_006270.5(RRAS):c.484G>A (p.Ala162Thr)
NM_006270.5(RRAS):c.492C>T (p.His164=) rs2122416934
NM_006270.5(RRAS):c.493C>G (p.His165Asp)
NM_006270.5(RRAS):c.498G>A (p.Val166=)
NM_006270.5(RRAS):c.50G>T (p.Gly17Val)
NM_006270.5(RRAS):c.516G>A (p.Ser172=) rs199924228
NM_006270.5(RRAS):c.516G>T (p.Ser172=)
NM_006270.5(RRAS):c.51G>T (p.Gly17=)
NM_006270.5(RRAS):c.526C>T (p.Arg176Cys) rs775719606
NM_006270.5(RRAS):c.533A>C (p.Asn178Thr)
NM_006270.5(RRAS):c.53G>C (p.Gly18Ala)
NM_006270.5(RRAS):c.541G>A (p.Glu181Lys)
NM_006270.5(RRAS):c.541G>C (p.Glu181Gln) rs1428526675
NM_006270.5(RRAS):c.54A>T (p.Gly18=) rs571103858
NM_006270.5(RRAS):c.553C>A (p.Gln185Lys) rs2122416729
NM_006270.5(RRAS):c.560T>C (p.Val187Ala) rs1599813084
NM_006270.5(RRAS):c.562C>G (p.Arg188Gly)
NM_006270.5(RRAS):c.563G>A (p.Arg188Gln) rs374621936
NM_006270.5(RRAS):c.567T>C (p.Ala189=)
NM_006270.5(RRAS):c.571C>G (p.Arg191Gly)
NM_006270.5(RRAS):c.571C>T (p.Arg191Trp)
NM_006270.5(RRAS):c.572+10G>A
NM_006270.5(RRAS):c.572+13C>A
NM_006270.5(RRAS):c.572+3G>A
NM_006270.5(RRAS):c.572+5G>A
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln) rs759803129
NM_006270.5(RRAS):c.572G>T (p.Arg191Leu) rs759803129
NM_006270.5(RRAS):c.573-15G>A
NM_006270.5(RRAS):c.573-15G>C
NM_006270.5(RRAS):c.573-16del
NM_006270.5(RRAS):c.576A>G (p.Lys192=)
NM_006270.5(RRAS):c.595C>A (p.Pro199Thr)
NM_006270.5(RRAS):c.599C>T (p.Pro200Leu)
NM_006270.5(RRAS):c.609C>T (p.Pro203=)
NM_006270.5(RRAS):c.610A>G (p.Ser204Gly)
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.630C>T (p.Gly210=)
NM_006270.5(RRAS):c.642C>T (p.Pro214=)
NM_006270.5(RRAS):c.643T>C (p.Cys215Arg)
NM_006270.5(RRAS):c.64G>A (p.Gly22Arg)
NM_006270.5(RRAS):c.66G>A (p.Gly22=) rs1249345635
NM_006270.5(RRAS):c.67G>A (p.Asp23Asn) rs2081015208
NM_006270.5(RRAS):c.70C>T (p.Pro24Ser) rs2122429906
NM_006270.5(RRAS):c.74dup (p.Pro26fs) rs755237250
NM_006270.5(RRAS):c.75G>C (p.Pro25=) rs2122429854
NM_006270.5(RRAS):c.77C>T (p.Pro26Leu)
NM_006270.5(RRAS):c.84G>C (p.Glu28Asp)
NM_006270.5(RRAS):c.90_91del (p.His30fs)
NM_006270.5(RRAS):c.92A>G (p.Lys31Arg)
NM_006270.5(RRAS):c.98T>C (p.Val33Ala) rs2122429748
NM_006270.5(RRAS):c.99G>A (p.Val33=)
NM_006432.5(NPC2):c.100A>G (p.Ile34Val)
NM_006432.5(NPC2):c.106G>T (p.Glu36Ter) rs2139670174
NM_006432.5(NPC2):c.108A>G (p.Glu36=)
NM_006432.5(NPC2):c.10C>T (p.Leu4=)
NM_006432.5(NPC2):c.117G>T (p.Val39=)
NM_006432.5(NPC2):c.120C>T (p.Ser40=)
NM_006432.5(NPC2):c.123A>G (p.Pro41=)
NM_006432.5(NPC2):c.129C>A (p.Pro43=)
NM_006432.5(NPC2):c.129del (p.Thr44fs)
NM_006432.5(NPC2):c.12G>A (p.Leu4=) rs2139676633
NM_006432.5(NPC2):c.12_18del (p.Ala5fs)
NM_006432.5(NPC2):c.130_131del (p.Thr44fs)
NM_006432.5(NPC2):c.132C>A (p.Thr44=)
NM_006432.5(NPC2):c.132C>T (p.Thr44=)
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.13G>A (p.Ala5Thr)
NM_006432.5(NPC2):c.140G>T (p.Cys47Phe) rs1555345993
NM_006432.5(NPC2):c.145C>T (p.Leu49=)
NM_006432.5(NPC2):c.146T>C (p.Leu49Pro)
NM_006432.5(NPC2):c.15A>G (p.Ala5=)
NM_006432.5(NPC2):c.161C>G (p.Ser54Cys)
NM_006432.5(NPC2):c.165C>G (p.Tyr55Ter) rs2086712268
NM_006432.5(NPC2):c.165C>T (p.Tyr55=) rs2086712268
NM_006432.5(NPC2):c.186C>T (p.Thr62=)
NM_006432.5(NPC2):c.190+14G>T
NM_006432.5(NPC2):c.190+16T>C
NM_006432.5(NPC2):c.190+17C>T
NM_006432.5(NPC2):c.190+1G>C
NM_006432.5(NPC2):c.191-14T>C
NM_006432.5(NPC2):c.191-14dup rs748909227
NM_006432.5(NPC2):c.191-18T>C
NM_006432.5(NPC2):c.191-18del
NM_006432.5(NPC2):c.191-1G>A
NM_006432.5(NPC2):c.191-1_193del rs1555345873
NM_006432.5(NPC2):c.191-4T>A
NM_006432.5(NPC2):c.191-7C>G rs2086689980
NM_006432.5(NPC2):c.202A>G (p.Lys68Glu) rs750426509
NM_006432.5(NPC2):c.202_203inv (p.Lys68Leu)
NM_006432.5(NPC2):c.210_213dup (p.Ala72fs) rs2086689501
NM_006432.5(NPC2):c.216C>A (p.Ala72=) rs773861377
NM_006432.5(NPC2):c.216C>G (p.Ala72=)
NM_006432.5(NPC2):c.217G>A (p.Val73Met)
NM_006432.5(NPC2):c.21A>G (p.Thr7=) rs150211005
NM_006432.5(NPC2):c.222G>C (p.Val74=) rs763523833
NM_006432.5(NPC2):c.232C>G (p.Leu78Val)
NM_006432.5(NPC2):c.234G>A (p.Leu78=)
NM_006432.5(NPC2):c.241G>A (p.Val81Ile)
NM_006432.5(NPC2):c.246A>T (p.Pro82=)
NM_006432.5(NPC2):c.258C>T (p.Pro86=)
NM_006432.5(NPC2):c.259A>T (p.Ile87Phe)
NM_006432.5(NPC2):c.25C>T (p.Leu9=) rs1033995785
NM_006432.5(NPC2):c.262C>T (p.Pro88Ser) rs2139668049
NM_006432.5(NPC2):c.267G>A (p.Glu89=)
NM_006432.5(NPC2):c.270T>A (p.Pro90=)
NM_006432.5(NPC2):c.276T>C (p.Gly92=)
NM_006432.5(NPC2):c.279T>C (p.Cys93=)
NM_006432.5(NPC2):c.279dup (p.Lys94Ter) rs1376058648
NM_006432.5(NPC2):c.27G>A (p.Leu9=) rs1362951124
NM_006432.5(NPC2):c.27G>C (p.Leu9=) rs1362951124
NM_006432.5(NPC2):c.281dup (p.Ser95fs) rs2139668010
NM_006432.5(NPC2):c.294C>T (p.Asn98=)
NM_006432.5(NPC2):c.296G>T (p.Cys99Phe)
NM_006432.5(NPC2):c.298C>A (p.Pro100Thr)
NM_006432.5(NPC2):c.2T>A (p.Met1Lys)
NM_006432.5(NPC2):c.2T>G (p.Met1Arg)
NM_006432.5(NPC2):c.300T>C (p.Pro100=)
NM_006432.5(NPC2):c.303C>G (p.Ile101Met)
NM_006432.5(NPC2):c.315G>A (p.Lys105=)
NM_006432.5(NPC2):c.318C>T (p.Thr106=) rs763613633
NM_006432.5(NPC2):c.321T>C (p.Tyr107=)
NM_006432.5(NPC2):c.327C>T (p.Tyr109=) rs2139667951
NM_006432.5(NPC2):c.342A>G (p.Pro114=)
NM_006432.5(NPC2):c.349A>C (p.Ser117Arg)
NM_006432.5(NPC2):c.351C>T (p.Ser117=) rs1183033999
NM_006432.5(NPC2):c.352G>A (p.Glu118Lys) rs80358266
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.358C>A (p.Pro120Thr)
NM_006432.5(NPC2):c.360C>T (p.Pro120=)
NM_006432.5(NPC2):c.363+13A>G
NM_006432.5(NPC2):c.363+16_363+18del rs747880187
NM_006432.5(NPC2):c.363+17T>C
NM_006432.5(NPC2):c.363+18T>A
NM_006432.5(NPC2):c.363+20A>G
NM_006432.5(NPC2):c.363+9T>C
NM_006432.5(NPC2):c.364-10C>T rs2086648557
NM_006432.5(NPC2):c.364-20T>C
NM_006432.5(NPC2):c.364-20T>G
NM_006432.5(NPC2):c.364-2A>G rs777654308
NM_006432.5(NPC2):c.364-8T>G rs1352203929
NM_006432.5(NPC2):c.36G>A (p.Ala12=)
NM_006432.5(NPC2):c.372G>C (p.Leu124=) rs2139664545
NM_006432.5(NPC2):c.373G>T (p.Val125Leu)
NM_006432.5(NPC2):c.375G>A (p.Val125=) rs2139664539
NM_006432.5(NPC2):c.381G>C (p.Glu127Asp) rs1412520435
NM_006432.5(NPC2):c.388C>T (p.Leu130Phe)
NM_006432.5(NPC2):c.393G>A (p.Gln131=)
NM_006432.5(NPC2):c.39C>G (p.Leu13=)
NM_006432.5(NPC2):c.3G>A (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.3G>C (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.3G>T (p.Met1Ile)
NM_006432.5(NPC2):c.400A>C (p.Lys134Gln)
NM_006432.5(NPC2):c.414C>T (p.Leu138=)
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del) rs781255433
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter) rs1555345616
NM_006432.5(NPC2):c.437A>G (p.Gln146Arg) rs2139664443
NM_006432.5(NPC2):c.441+10T>C
NM_006432.5(NPC2):c.441+12T>C
NM_006432.5(NPC2):c.441+13G>A
NM_006432.5(NPC2):c.441+13G>T
NM_006432.5(NPC2):c.441+14G>C
NM_006432.5(NPC2):c.441+16G>T
NM_006432.5(NPC2):c.441+17G>C
NM_006432.5(NPC2):c.441+8T>C
NM_006432.5(NPC2):c.441+9A>T rs372464598
NM_006432.5(NPC2):c.442-10A>G
NM_006432.5(NPC2):c.442-13A>G
NM_006432.5(NPC2):c.442-17G>A
NM_006432.5(NPC2):c.442-17G>C
NM_006432.5(NPC2):c.442-4A>G rs114950106
NM_006432.5(NPC2):c.442-8A>G
NM_006432.5(NPC2):c.442-9C>T
NM_006432.5(NPC2):c.453C>T (p.Leu151=) rs766378122
NM_006432.5(NPC2):c.51C>A (p.Ala17=) rs1260452199
NM_006432.5(NPC2):c.54G>A (p.Gln18=)
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys) rs80358260
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006432.5(NPC2):c.62C>A (p.Pro21Gln)
NM_006432.5(NPC2):c.72C>T (p.Phe24=)
NM_006432.5(NPC2):c.79dup (p.Cys27fs) rs767899043
NM_006432.5(NPC2):c.82+10A>C
NM_006432.5(NPC2):c.82+12G>A
NM_006432.5(NPC2):c.82+13C>A
NM_006432.5(NPC2):c.82+15C>A
NM_006432.5(NPC2):c.82+15C>T
NM_006432.5(NPC2):c.82+16G>A
NM_006432.5(NPC2):c.82+17C>T
NM_006432.5(NPC2):c.82+6C>T rs1450006465
NM_006432.5(NPC2):c.82+6dup rs2139676497
NM_006432.5(NPC2):c.82+8C>G
NM_006432.5(NPC2):c.83-11T>C
NM_006432.5(NPC2):c.83-15A>G rs1405062063
NM_006432.5(NPC2):c.83-19A>G rs2139670208
NM_006432.5(NPC2):c.83-20A>G
NM_006432.5(NPC2):c.83-5T>C
NM_006432.5(NPC2):c.83-8T>G
NM_006432.5(NPC2):c.94G>A (p.Gly32Arg)
NM_006432.5(NPC2):c.9C>T (p.Phe3=) rs1300524708
NM_006912.6(RIT1):c.107-12C>T
NM_006912.6(RIT1):c.107-13_107-10del
NM_006912.6(RIT1):c.107-6T>G
NM_006912.6(RIT1):c.107-9C>A
NM_006912.6(RIT1):c.108C>T (p.Ala36=)
NM_006912.6(RIT1):c.109A>G (p.Met37Val)
NM_006912.6(RIT1):c.10G>C (p.Gly4Arg) rs2102591257
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)
NM_006912.6(RIT1):c.113C>G (p.Thr38Ser) rs2102590960
NM_006912.6(RIT1):c.116T>A (p.Met39Lys) rs2102590945
NM_006912.6(RIT1):c.11G>A (p.Gly4Glu) rs2102591253
NM_006912.6(RIT1):c.120G>A (p.Gln40=)
NM_006912.6(RIT1):c.125T>C (p.Ile42Thr)
NM_006912.6(RIT1):c.128G>C (p.Ser43Thr)
NM_006912.6(RIT1):c.133C>G (p.Arg45Gly)
NM_006912.6(RIT1):c.134G>A (p.Arg45Gln)
NM_006912.6(RIT1):c.134G>T (p.Arg45Leu) rs1673569021
NM_006912.6(RIT1):c.139C>A (p.Pro47Thr)
NM_006912.6(RIT1):c.142G>A (p.Glu48Lys)
NM_006912.6(RIT1):c.145G>C (p.Asp49His) rs2102590904
NM_006912.6(RIT1):c.146A>T (p.Asp49Val)
NM_006912.6(RIT1):c.14C>T (p.Thr5Ile)
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.153T>A (p.Asp51Glu)
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu) rs1571999275
NM_006912.6(RIT1):c.156C>A (p.Pro52=)
NM_006912.6(RIT1):c.159C>T (p.Thr53=)
NM_006912.6(RIT1):c.162T>A (p.Ile54=)
NM_006912.6(RIT1):c.163+10A>G
NM_006912.6(RIT1):c.163+12C>T
NM_006912.6(RIT1):c.163+16A>C
NM_006912.6(RIT1):c.163+16_163+18dup
NM_006912.6(RIT1):c.163+17C>G
NM_006912.6(RIT1):c.163+17C>T
NM_006912.6(RIT1):c.163+5G>T rs1673568021
NM_006912.6(RIT1):c.164-10C>T
NM_006912.6(RIT1):c.164-18C>G
NM_006912.6(RIT1):c.164-21_164-16del
NM_006912.6(RIT1):c.164-27_164-17dup
NM_006912.6(RIT1):c.164-5T>A
NM_006912.6(RIT1):c.164-5T>C
NM_006912.6(RIT1):c.164-6C>T
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.17G>C (p.Arg6Pro)
NM_006912.6(RIT1):c.18C>T (p.Arg6=)
NM_006912.6(RIT1):c.201G>A (p.Glu67=) rs1254003235
NM_006912.6(RIT1):c.206C>A (p.Ala69Asp)
NM_006912.6(RIT1):c.211C>G (p.Leu71Val)
NM_006912.6(RIT1):c.212_213del (p.Leu71fs)
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser) rs869025191
NM_006912.6(RIT1):c.229_234dup (p.Ala77_Gly78dup) rs1673399028
NM_006912.6(RIT1):c.22G>T (p.Val8Phe)
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly) rs1673399238
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
NM_006912.6(RIT1):c.237+11C>A
NM_006912.6(RIT1):c.237+12del rs763868802
NM_006912.6(RIT1):c.237+15_237+50del
NM_006912.6(RIT1):c.237+18G>A
NM_006912.6(RIT1):c.237+19T>A
NM_006912.6(RIT1):c.237+9T>C
NM_006912.6(RIT1):c.238-12G>C
NM_006912.6(RIT1):c.238-16C>T rs763494925
NM_006912.6(RIT1):c.238-2dup rs1298539810
NM_006912.6(RIT1):c.238-9T>A
NM_006912.6(RIT1):c.23T>C (p.Val8Ala)
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.246T>C (p.Phe82=)
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.253A>G (p.Met85Val)
NM_006912.6(RIT1):c.256C>T (p.Arg86Trp)
NM_006912.6(RIT1):c.258G>A (p.Arg86=)
NM_006912.6(RIT1):c.259G>C (p.Asp87His) rs886041414
NM_006912.6(RIT1):c.260A>C (p.Asp87Ala)
NM_006912.6(RIT1):c.261C>T (p.Asp87=)
NM_006912.6(RIT1):c.264G>A (p.Gln88=)
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.273G>A (p.Arg91=)
NM_006912.6(RIT1):c.274G>T (p.Ala92Ser)
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.285G>A (p.Gly95=)
NM_006912.6(RIT1):c.29G>C (p.Ser10Thr)
NM_006912.6(RIT1):c.304A>G (p.Ile102Val) rs886041962
NM_006912.6(RIT1):c.308C>T (p.Thr103Met)
NM_006912.6(RIT1):c.309G>A (p.Thr103=) rs370396152
NM_006912.6(RIT1):c.309G>C (p.Thr103=) rs370396152
NM_006912.6(RIT1):c.310G>A (p.Asp104Asn)
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
NM_006912.6(RIT1):c.316C>A (p.Arg106=)
NM_006912.6(RIT1):c.321T>C (p.Ser107=) rs2102584781
NM_006912.6(RIT1):c.326A>T (p.His109Leu) rs1407666045
NM_006912.6(RIT1):c.335G>A (p.Arg112His)
NM_006912.6(RIT1):c.338A>C (p.Glu113Ala)
NM_006912.6(RIT1):c.338A>T (p.Glu113Val)
NM_006912.6(RIT1):c.33C>T (p.Cys11=)
NM_006912.6(RIT1):c.340T>C (p.Phe114Leu)
NM_006912.6(RIT1):c.351T>C (p.Leu117=)
NM_006912.6(RIT1):c.359G>A (p.Arg120Gln)
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu) rs777520196
NM_006912.6(RIT1):c.366A>G (p.Arg122=)
NM_006912.6(RIT1):c.374A>G (p.Asp125Gly)
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)
NM_006912.6(RIT1):c.379A>G (p.Thr127Ala)
NM_006912.6(RIT1):c.381A>C (p.Thr127=) rs1206873288
NM_006912.6(RIT1):c.381A>G (p.Thr127=)
NM_006912.6(RIT1):c.384T>C (p.Pro128=)
NM_006912.6(RIT1):c.387G>A (p.Val129=)
NM_006912.6(RIT1):c.401A>G (p.Asn134Ser)
NM_006912.6(RIT1):c.401A>T (p.Asn134Ile)
NM_006912.6(RIT1):c.408A>G (p.Ser136=)
NM_006912.6(RIT1):c.413T>C (p.Leu138Pro)
NM_006912.6(RIT1):c.413T>G (p.Leu138Arg)
NM_006912.6(RIT1):c.417A>T (p.Lys139Asn)
NM_006912.6(RIT1):c.421C>T (p.Leu141=)
NM_006912.6(RIT1):c.429+15G>A
NM_006912.6(RIT1):c.429+20T>C rs2102584651
NM_006912.6(RIT1):c.429+9A>G
NM_006912.6(RIT1):c.430-11dup
NM_006912.6(RIT1):c.430-16C>T
NM_006912.6(RIT1):c.430-18C>A
NM_006912.6(RIT1):c.430-18C>T
NM_006912.6(RIT1):c.430-5T>C rs1571991209
NM_006912.6(RIT1):c.433A>G (p.Thr145Ala)
NM_006912.6(RIT1):c.441A>G (p.Glu147=)
NM_006912.6(RIT1):c.446G>C (p.Gly149Ala)
NM_006912.6(RIT1):c.45C>T (p.Pro15=)
NM_006912.6(RIT1):c.465A>G (p.Glu155=)
NM_006912.6(RIT1):c.470G>A (p.Ser157Asn)
NM_006912.6(RIT1):c.486G>A (p.Glu162=)
NM_006912.6(RIT1):c.488C>T (p.Thr163Ile) rs2102581107
NM_006912.6(RIT1):c.489A>G (p.Thr163=)
NM_006912.6(RIT1):c.48T>C (p.Ala16=)
NM_006912.6(RIT1):c.491C>G (p.Ser164Cys)
NM_006912.6(RIT1):c.492T>C (p.Ser164=) rs2102581097
NM_006912.6(RIT1):c.498A>G (p.Ala166=)
NM_006912.6(RIT1):c.49G>T (p.Gly17Trp)
NM_006912.6(RIT1):c.4G>A (p.Asp2Asn) rs924364497
NM_006912.6(RIT1):c.503G>A (p.Arg168His)
NM_006912.6(RIT1):c.505T>A (p.Tyr169Asn)
NM_006912.6(RIT1):c.507C>T (p.Tyr169=)
NM_006912.6(RIT1):c.509A>G (p.Tyr170Cys)
NM_006912.6(RIT1):c.50G>A (p.Gly17Glu)
NM_006912.6(RIT1):c.519T>C (p.Asp173=)
NM_006912.6(RIT1):c.531C>A (p.Ala177=)
NM_006912.6(RIT1):c.532C>G (p.Leu178Val) rs730881013
NM_006912.6(RIT1):c.535G>A (p.Val179Ile)
NM_006912.6(RIT1):c.538C>T (p.Arg180Trp)
NM_006912.6(RIT1):c.53T>G (p.Leu18Arg)
NM_006912.6(RIT1):c.546A>G (p.Ile182Met) rs1673291260
NM_006912.6(RIT1):c.547C>T (p.Arg183Cys)
NM_006912.6(RIT1):c.550A>G (p.Arg184Gly)
NM_006912.6(RIT1):c.551G>T (p.Arg184Met) rs1401658925
NM_006912.6(RIT1):c.552G>A (p.Arg184=) rs1673290776
NM_006912.6(RIT1):c.559A>C (p.Lys187Gln)
NM_006912.6(RIT1):c.561G>C (p.Lys187Asn)
NM_006912.6(RIT1):c.565G>A (p.Ala189Thr)
NM_006912.6(RIT1):c.566C>T (p.Ala189Val)
NM_006912.6(RIT1):c.570A>G (p.Val190=)
NM_006912.6(RIT1):c.572T>A (p.Leu191Gln)
NM_006912.6(RIT1):c.577A>T (p.Met193Leu)
NM_006912.6(RIT1):c.578T>C (p.Met193Thr)
NM_006912.6(RIT1):c.578T>G (p.Met193Arg)
NM_006912.6(RIT1):c.583A>G (p.Lys195Glu)
NM_006912.6(RIT1):c.587A>C (p.Lys196Thr)
NM_006912.6(RIT1):c.587A>T (p.Lys196Ile)
NM_006912.6(RIT1):c.588A>C (p.Lys196Asn)
NM_006912.6(RIT1):c.588A>G (p.Lys196=)
NM_006912.6(RIT1):c.589T>C (p.Ser197Pro) rs1673289658
NM_006912.6(RIT1):c.598A>C (p.Lys200Gln)
NM_006912.6(RIT1):c.59G>A (p.Arg20Gln)
NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)
NM_006912.6(RIT1):c.604_605del (p.Ser202fs)
NM_006912.6(RIT1):c.607G>A (p.Val203Ile)
NM_006912.6(RIT1):c.609A>G (p.Val203=)
NM_006912.6(RIT1):c.617G>A (p.Arg206Lys)
NM_006912.6(RIT1):c.617G>C (p.Arg206Thr)
NM_006912.6(RIT1):c.618G>C (p.Arg206Ser)
NM_006912.6(RIT1):c.634del (p.Arg212fs)
NM_006912.6(RIT1):c.638A>G (p.Lys213Arg)
NM_006912.6(RIT1):c.638del (p.Lys213fs)
NM_006912.6(RIT1):c.639G>A (p.Lys213=) rs1673288442
NM_006912.6(RIT1):c.644A>C (p.Lys215Thr)
NM_006912.6(RIT1):c.644_647del (p.Lys215fs) rs766063111
NM_006912.6(RIT1):c.645del (p.Asp216fs) rs1673288090
NM_006912.6(RIT1):c.649del (p.Ser217fs) rs1673287696
NM_006912.6(RIT1):c.650C>G (p.Ser217Ter)
NM_006912.6(RIT1):c.651A>G (p.Ser217=)
NM_006912.6(RIT1):c.657T>C (p.Thr219=)
NM_006912.6(RIT1):c.659G>A (p.Ter220=)
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006912.6(RIT1):c.72A>G (p.Leu24=) rs770237120
NM_006912.6(RIT1):c.7T>G (p.Ser3Ala) rs2102591265
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg) rs1571999498
NM_006912.6(RIT1):c.93T>C (p.Gly31=)
NM_006939.4(SOS2):c.1001G>A (p.Arg334His)
NM_006939.4(SOS2):c.1009C>T (p.Leu337Phe) rs1204583343
NM_006939.4(SOS2):c.1015C>T (p.Arg339Cys)
NM_006939.4(SOS2):c.1016G>A (p.Arg339His)
NM_006939.4(SOS2):c.1017T>A (p.Arg339=)
NM_006939.4(SOS2):c.1017T>C (p.Arg339=)
NM_006939.4(SOS2):c.1022T>C (p.Met341Thr)
NM_006939.4(SOS2):c.1024C>T (p.Leu342=) rs1033098930
NM_006939.4(SOS2):c.1029G>A (p.Val343=)
NM_006939.4(SOS2):c.1032A>G (p.Pro344=)
NM_006939.4(SOS2):c.1036T>C (p.Tyr346His)
NM_006939.4(SOS2):c.1042T>G (p.Cys348Gly) rs1885462935
NM_006939.4(SOS2):c.1042dup (p.Cys348fs)
NM_006939.4(SOS2):c.1043G>C (p.Cys348Ser)
NM_006939.4(SOS2):c.1049A>G (p.His350Arg)
NM_006939.4(SOS2):c.1060T>G (p.Leu354Val)
NM_006939.4(SOS2):c.1065A>G (p.Leu355=)
NM_006939.4(SOS2):c.1068+11A>G
NM_006939.4(SOS2):c.1068+15C>A
NM_006939.4(SOS2):c.1068+17_1068+18del
NM_006939.4(SOS2):c.1069-14_1069-13del
NM_006939.4(SOS2):c.1069-16_1069-13del
NM_006939.4(SOS2):c.1069-4T>C
NM_006939.4(SOS2):c.1069-5del
NM_006939.4(SOS2):c.1069-6dup rs756206186
NM_006939.4(SOS2):c.106C>G (p.Pro36Ala)
NM_006939.4(SOS2):c.1080A>T (p.Ala360=)
NM_006939.4(SOS2):c.1081T>A (p.Cys361Ser)
NM_006939.4(SOS2):c.1084A>G (p.Ser362Gly)
NM_006939.4(SOS2):c.1085G>A (p.Ser362Asn)
NM_006939.4(SOS2):c.1107A>G (p.Glu369=)
NM_006939.4(SOS2):c.110C>T (p.Thr37Ile)
NM_006939.4(SOS2):c.1119A>G (p.Gln373=)
NM_006939.4(SOS2):c.1125T>C (p.Ile375=) rs1885009611
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.1127C>T (p.Thr376Ile)
NM_006939.4(SOS2):c.1132C>T (p.Leu378Phe)
NM_006939.4(SOS2):c.1137G>C (p.Met379Ile)
NM_006939.4(SOS2):c.1150A>G (p.Ser384Gly)
NM_006939.4(SOS2):c.1153A>G (p.Met385Val)
NM_006939.4(SOS2):c.1158C>T (p.Asp386=) rs942106224
NM_006939.4(SOS2):c.1159C>A (p.Arg387=)
NM_006939.4(SOS2):c.1159C>T (p.Arg387Ter)
NM_006939.4(SOS2):c.115T>A (p.Ser39Thr) rs2139796314
NM_006939.4(SOS2):c.1170G>A (p.Lys390=)
NM_006939.4(SOS2):c.1173G>A (p.Gln391=)
NM_006939.4(SOS2):c.1173G>T (p.Gln391His)
NM_006939.4(SOS2):c.1175A>G (p.Tyr392Cys) rs1085307558
NM_006939.4(SOS2):c.1176T>C (p.Tyr392=) rs1555370242
NM_006939.4(SOS2):c.1181C>G (p.Pro394Arg)
NM_006939.4(SOS2):c.1181C>T (p.Pro394Leu) rs144332746
NM_006939.4(SOS2):c.1183A>T (p.Arg395Ter)
NM_006939.4(SOS2):c.1185A>C (p.Arg395Ser)
NM_006939.4(SOS2):c.1187G>A (p.Arg396His)
NM_006939.4(SOS2):c.1189C>G (p.Arg397Gly) rs777771444
NM_006939.4(SOS2):c.1195G>C (p.Gly399Arg)
NM_006939.4(SOS2):c.1196+5T>C
NM_006939.4(SOS2):c.1196+7C>T
NM_006939.4(SOS2):c.1197-11_1197-8del
NM_006939.4(SOS2):c.1197-20A>G
NM_006939.4(SOS2):c.1197-5del
NM_006939.4(SOS2):c.1197-5dup
NM_006939.4(SOS2):c.1197-8T>G rs2139630303
NM_006939.4(SOS2):c.1205T>C (p.Val402Ala)
NM_006939.4(SOS2):c.1210C>G (p.Pro404Ala)
NM_006939.4(SOS2):c.1217A>G (p.Tyr406Cys)
NM_006939.4(SOS2):c.1221T>C (p.Ser407=)
NM_006939.4(SOS2):c.1227A>G (p.Gln409=)
NM_006939.4(SOS2):c.122A>G (p.Asn41Ser)
NM_006939.4(SOS2):c.1230A>G (p.Leu410=)
NM_006939.4(SOS2):c.1230AAG[1] (p.Arg411del)
NM_006939.4(SOS2):c.1235G>T (p.Ser412Ile)
NM_006939.4(SOS2):c.1242C>A (p.His414Gln)
NM_006939.4(SOS2):c.1242C>G (p.His414Gln)
NM_006939.4(SOS2):c.1242C>T (p.His414=)
NM_006939.4(SOS2):c.1243C>T (p.Leu415=)
NM_006939.4(SOS2):c.1244T>G (p.Leu415Arg)
NM_006939.4(SOS2):c.1245_1248del (p.Ala416fs) rs2139630042
NM_006939.4(SOS2):c.1249A>T (p.Ile417Phe)
NM_006939.4(SOS2):c.1251C>G (p.Ile417Met)
NM_006939.4(SOS2):c.1256A>G (p.Lys419Arg)
NM_006939.4(SOS2):c.1259T>C (p.Met420Thr)
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.1265A>G (p.Glu422Gly)
NM_006939.4(SOS2):c.1266A>C (p.Glu422Asp) rs755550719
NM_006939.4(SOS2):c.1285G>A (p.Gly429Arg)
NM_006939.4(SOS2):c.1291G>A (p.Glu431Lys)
NM_006939.4(SOS2):c.129G>A (p.Glu43=)
NM_006939.4(SOS2):c.1300G>C (p.Asp434His) rs2139629861
NM_006939.4(SOS2):c.1303A>G (p.Ile435Val)
NM_006939.4(SOS2):c.1311G>C (p.Gln437His)
NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys) rs1884941722
NM_006939.4(SOS2):c.1323A>G (p.Glu441=)
NM_006939.4(SOS2):c.1325T>G (p.Phe442Cys)
NM_006939.4(SOS2):c.1326C>A (p.Phe442Leu)
NM_006939.4(SOS2):c.1327A>C (p.Ile443Leu)
NM_006939.4(SOS2):c.1331T>C (p.Met444Thr) rs1884941577
NM_006939.4(SOS2):c.1337G>T (p.Gly446Val)
NM_006939.4(SOS2):c.1338A>C (p.Gly446=)
NM_006939.4(SOS2):c.1338A>T (p.Gly446=)
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
NM_006939.4(SOS2):c.133C>T (p.Leu45Phe)
NM_006939.4(SOS2):c.133_136del (p.Leu45fs) rs764257310
NM_006939.4(SOS2):c.1341A>G (p.Pro447=) rs761540894
NM_006939.4(SOS2):c.1345A>G (p.Thr449Ala)
NM_006939.4(SOS2):c.1350A>G (p.Arg450=)
NM_006939.4(SOS2):c.1353C>T (p.Ile451=)
NM_006939.4(SOS2):c.1362A>G (p.Lys454=)
NM_006939.4(SOS2):c.1366G>A (p.Glu456Lys)
NM_006939.4(SOS2):c.1369C>T (p.Arg457Trp)
NM_006939.4(SOS2):c.1370G>A (p.Arg457Gln)
NM_006939.4(SOS2):c.1371G>T (p.Arg457=)
NM_006939.4(SOS2):c.1375A>G (p.Ile459Val) rs886268693
NM_006939.4(SOS2):c.137A>C (p.Tyr46Ser) rs1162838729
NM_006939.4(SOS2):c.137A>G (p.Tyr46Cys)
NM_006939.4(SOS2):c.1393T>G (p.Leu465Val)
NM_006939.4(SOS2):c.13C>G (p.Pro5Ala)
NM_006939.4(SOS2):c.1403G>T (p.Ser468Ile)
NM_006939.4(SOS2):c.1411C>T (p.Pro471Ser) rs1353990634
NM_006939.4(SOS2):c.1412C>G (p.Pro471Arg)
NM_006939.4(SOS2):c.141T>C (p.Tyr47=)
NM_006939.4(SOS2):c.1422C>G (p.Gly474=)
NM_006939.4(SOS2):c.1422C>T (p.Gly474=)
NM_006939.4(SOS2):c.1427C>T (p.Thr476Ile) rs2139629330
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp) rs1555370121
NM_006939.4(SOS2):c.1445G>A (p.Ser482Asn)
NM_006939.4(SOS2):c.1445G>T (p.Ser482Ile) rs1195086721
NM_006939.4(SOS2):c.1455A>G (p.Glu485=)
NM_006939.4(SOS2):c.1458_1473del (p.Arg487fs)
NM_006939.4(SOS2):c.1463T>G (p.Leu488Ter)
NM_006939.4(SOS2):c.1464A>G (p.Leu488=)
NM_006939.4(SOS2):c.1472A>G (p.Lys491Arg)
NM_006939.4(SOS2):c.1474T>C (p.Phe492Leu)
NM_006939.4(SOS2):c.1475T>C (p.Phe492Ser)
NM_006939.4(SOS2):c.1480A>T (p.Met494Leu) rs1884937684
NM_006939.4(SOS2):c.1488A>G (p.Lys496=)
NM_006939.4(SOS2):c.1491A>T (p.Ile497=) rs2139629111
NM_006939.4(SOS2):c.1492C>G (p.Gln498Glu)
NM_006939.4(SOS2):c.1499G>C (p.Cys500Ser)
NM_006939.4(SOS2):c.1508A>T (p.Glu503Val)
NM_006939.4(SOS2):c.1511A>G (p.Asp504Gly) rs1884937142
NM_006939.4(SOS2):c.1514C>G (p.Thr505Ser)
NM_006939.4(SOS2):c.1515T>C (p.Thr505=) rs1345455743
NM_006939.4(SOS2):c.1516T>C (p.Cys506Arg)
NM_006939.4(SOS2):c.1517G>C (p.Cys506Ser)
NM_006939.4(SOS2):c.1523A>G (p.His508Arg)
NM_006939.4(SOS2):c.1532C>G (p.Ala511Gly)
NM_006939.4(SOS2):c.1533A>G (p.Ala511=)
NM_006939.4(SOS2):c.1537G>C (p.Glu513Gln)
NM_006939.4(SOS2):c.1540T>C (p.Leu514=)
NM_006939.4(SOS2):c.1544T>C (p.Val515Ala) rs2139628968
NM_006939.4(SOS2):c.1550A>C (p.Lys517Thr) rs367970301
NM_006939.4(SOS2):c.1560C>G (p.Asn520Lys)
NM_006939.4(SOS2):c.1564A>G (p.Ile522Val)
NM_006939.4(SOS2):c.1564ATA[1] (p.Ile523del)
NM_006939.4(SOS2):c.1567A>G (p.Ile523Val) rs1884934797
NM_006939.4(SOS2):c.1585G>C (p.Ala529Pro) rs2139628740
NM_006939.4(SOS2):c.1586C>T (p.Ala529Val)
NM_006939.4(SOS2):c.1592A>G (p.Glu531Gly) rs778331065
NM_006939.4(SOS2):c.1593A>G (p.Glu531=) rs1414010933
NM_006939.4(SOS2):c.1598dup (p.Asn533fs)
NM_006939.4(SOS2):c.1599C>A (p.Asn533Lys) rs1484591662
NM_006939.4(SOS2):c.15G>A (p.Pro5=)
NM_006939.4(SOS2):c.1606A>G (p.Met536Val)
NM_006939.4(SOS2):c.1609G>A (p.Ala537Thr)
NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser) rs748632850
NM_006939.4(SOS2):c.1610C>T (p.Ala537Val)
NM_006939.4(SOS2):c.1612G>A (p.Ala538Thr)
NM_006939.4(SOS2):c.1614C>A (p.Ala538=)
NM_006939.4(SOS2):c.1614C>T (p.Ala538=)
NM_006939.4(SOS2):c.1617T>A (p.Leu539=)
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
NM_006939.4(SOS2):c.1642C>A (p.Leu548Ile)
NM_006939.4(SOS2):c.1642C>T (p.Leu548=)
NM_006939.4(SOS2):c.1648C>A (p.Arg550=) rs1344304906
NM_006939.4(SOS2):c.1649G>A (p.Arg550Gln)
NM_006939.4(SOS2):c.1661C>T (p.Ser554Leu) rs763829729
NM_006939.4(SOS2):c.1662A>G (p.Ser554=)
NM_006939.4(SOS2):c.166C>T (p.Leu56Phe)
NM_006939.4(SOS2):c.1682A>C (p.Asn561Thr)
NM_006939.4(SOS2):c.1682A>T (p.Asn561Ile)
NM_006939.4(SOS2):c.1698A>T (p.Arg566Ser)
NM_006939.4(SOS2):c.169A>G (p.Asn57Asp)
NM_006939.4(SOS2):c.1705A>G (p.Ser569Gly)
NM_006939.4(SOS2):c.1708C>T (p.Pro570Ser)
NM_006939.4(SOS2):c.1711G>A (p.Glu571Lys)
NM_006939.4(SOS2):c.1721G>A (p.Arg574His)
NM_006939.4(SOS2):c.1726G>A (p.Val576Ile)
NM_006939.4(SOS2):c.1727T>G (p.Val576Gly)
NM_006939.4(SOS2):c.172A>G (p.Lys58Glu) rs2139796115
NM_006939.4(SOS2):c.1734del (p.Asp579fs) rs2139628200
NM_006939.4(SOS2):c.1740_1741del (p.Glu581fs)
NM_006939.4(SOS2):c.1766A>G (p.Asn589Ser)
NM_006939.4(SOS2):c.1767C>T (p.Asn589=) rs1427742827
NM_006939.4(SOS2):c.1775G>C (p.Ser592Thr)
NM_006939.4(SOS2):c.1776T>C (p.Ser592=)
NM_006939.4(SOS2):c.177A>G (p.Leu59=)
NM_006939.4(SOS2):c.1781G>T (p.Ser594Ile)
NM_006939.4(SOS2):c.1786A>G (p.Ile596Val)
NM_006939.4(SOS2):c.1788C>G (p.Ile596Met) rs2139627990
NM_006939.4(SOS2):c.1810G>T (p.Val604Leu) rs769210427
NM_006939.4(SOS2):c.1811T>C (p.Val604Ala)
NM_006939.4(SOS2):c.1815G>T (p.Val605=) rs966907268
NM_006939.4(SOS2):c.181A>G (p.Met61Val) rs774761716
NM_006939.4(SOS2):c.1824T>G (p.Ile608Met)
NM_006939.4(SOS2):c.1832T>C (p.Leu611Ser)
NM_006939.4(SOS2):c.1833A>G (p.Leu611=)
NM_006939.4(SOS2):c.1838A>G (p.Tyr613Cys)
NM_006939.4(SOS2):c.1852+11C>T
NM_006939.4(SOS2):c.1852+14A>G
NM_006939.4(SOS2):c.1852+15T>C
NM_006939.4(SOS2):c.1852+19A>G
NM_006939.4(SOS2):c.1852+2T>C
NM_006939.4(SOS2):c.1852+3A>G rs758436817
NM_006939.4(SOS2):c.1852+4T>C
NM_006939.4(SOS2):c.1852+6T>C
NM_006939.4(SOS2):c.185C>T (p.Ala62Val) rs1886594687
NM_006939.4(SOS2):c.1861T>A (p.Phe621Ile)
NM_006939.4(SOS2):c.1867C>T (p.Arg623Cys)
NM_006939.4(SOS2):c.1881C>T (p.Thr627=)
NM_006939.4(SOS2):c.1883C>T (p.Thr628Ile)
NM_006939.4(SOS2):c.1884A>C (p.Thr628=) rs781172817
NM_006939.4(SOS2):c.1884A>G (p.Thr628=)
NM_006939.4(SOS2):c.1888C>T (p.Arg630Cys)
NM_006939.4(SOS2):c.1891T>C (p.Ser631Pro)
NM_006939.4(SOS2):c.1900A>G (p.Lys634Glu) rs1884893175
NM_006939.4(SOS2):c.1915C>A (p.Leu639Met)
NM_006939.4(SOS2):c.1932A>G (p.Glu644=)
NM_006939.4(SOS2):c.1933C>T (p.Arg645Trp)
NM_006939.4(SOS2):c.1934+11T>G rs375487320
NM_006939.4(SOS2):c.1934+12A>G rs1054073809
NM_006939.4(SOS2):c.1934+19del
NM_006939.4(SOS2):c.1934+1G>A
NM_006939.4(SOS2):c.1934+6A>C
NM_006939.4(SOS2):c.1934G>T (p.Arg645Leu)
NM_006939.4(SOS2):c.1935-19C>A
NM_006939.4(SOS2):c.1935-20C>G rs376985307
NM_006939.4(SOS2):c.1935-3T>A
NM_006939.4(SOS2):c.1935-6T>C
NM_006939.4(SOS2):c.1939G>A (p.Glu647Lys)
NM_006939.4(SOS2):c.1952C>G (p.Pro651Arg)
NM_006939.4(SOS2):c.1957C>T (p.Pro653Ser)
NM_006939.4(SOS2):c.1961C>T (p.Thr654Ile)
NM_006939.4(SOS2):c.1965C>T (p.Asp655=)
NM_006939.4(SOS2):c.1966G>T (p.Ala656Ser)
NM_006939.4(SOS2):c.1981A>G (p.Ile661Val) rs1460978115
NM_006939.4(SOS2):c.1982T>C (p.Ile661Thr)
NM_006939.4(SOS2):c.1983A>T (p.Ile661=)
NM_006939.4(SOS2):c.1988A>G (p.Lys663Arg)
NM_006939.4(SOS2):c.1990G>C (p.Gly664Arg)
NM_006939.4(SOS2):c.1992C>G (p.Gly664=)
NM_006939.4(SOS2):c.1998G>A (p.Gln666=)
NM_006939.4(SOS2):c.19C>A (p.Pro7Thr)
NM_006939.4(SOS2):c.19C>T (p.Pro7Ser)
NM_006939.4(SOS2):c.1_20dup (p.Tyr8fs)
NM_006939.4(SOS2):c.2000C>T (p.Pro667Leu)
NM_006939.4(SOS2):c.2001A>G (p.Pro667=)
NM_006939.4(SOS2):c.2005A>G (p.Ser669Gly)
NM_006939.4(SOS2):c.2007T>A (p.Ser669Arg)
NM_006939.4(SOS2):c.2007T>C (p.Ser669=) rs577622341
NM_006939.4(SOS2):c.2018A>G (p.Lys673Arg)
NM_006939.4(SOS2):c.2021G>A (p.Arg674Lys) rs371205081
NM_006939.4(SOS2):c.2022A>G (p.Arg674=)
NM_006939.4(SOS2):c.2026C>T (p.Arg676Cys)
NM_006939.4(SOS2):c.2027G>T (p.Arg676Leu)
NM_006939.4(SOS2):c.202C>G (p.Gln68Glu)
NM_006939.4(SOS2):c.2030A>G (p.Lys677Arg)
NM_006939.4(SOS2):c.2034A>G (p.Glu678=)
NM_006939.4(SOS2):c.2037T>C (p.Tyr679=)
NM_006939.4(SOS2):c.2039T>C (p.Val680Ala)
NM_006939.4(SOS2):c.2045C>T (p.Pro682Leu)
NM_006939.4(SOS2):c.2046A>G (p.Pro682=) rs2139618438
NM_006939.4(SOS2):c.2047G>A (p.Val683Ile) rs1884843220
NM_006939.4(SOS2):c.204A>G (p.Gln68=)
NM_006939.4(SOS2):c.2057+12A>C
NM_006939.4(SOS2):c.2057+12A>G
NM_006939.4(SOS2):c.2057+19_2057+20insA
NM_006939.4(SOS2):c.2057+20T>G
NM_006939.4(SOS2):c.2057+20_2057+22del
NM_006939.4(SOS2):c.2057+20del rs111970905
NM_006939.4(SOS2):c.2058-10A>G rs1303671107
NM_006939.4(SOS2):c.2058-13T>C
NM_006939.4(SOS2):c.2058-1G>A
NM_006939.4(SOS2):c.2058-29_2058-10dup
NM_006939.4(SOS2):c.2058-4T>A
NM_006939.4(SOS2):c.205G>A (p.Asp69Asn)
NM_006939.4(SOS2):c.2066A>G (p.Asn689Ser)
NM_006939.4(SOS2):c.2076G>A (p.Arg692=)
NM_006939.4(SOS2):c.2089C>T (p.His697Tyr)
NM_006939.4(SOS2):c.208G>C (p.Val70Leu)
NM_006939.4(SOS2):c.2094T>C (p.His698=)
NM_006939.4(SOS2):c.20C>G (p.Pro7Arg)
NM_006939.4(SOS2):c.2104T>C (p.Phe702Leu) rs2139604459
NM_006939.4(SOS2):c.2106T>C (p.Phe702=)
NM_006939.4(SOS2):c.2109A>G (p.Glu703=)
NM_006939.4(SOS2):c.2113G>T (p.Asp705Tyr) rs1057518079
NM_006939.4(SOS2):c.2118G>A (p.Leu706=) rs2139604401
NM_006939.4(SOS2):c.211G>C (p.Glu71Gln)
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln) rs768829374
NM_006939.4(SOS2):c.2129A>G (p.Glu710Gly)
NM_006939.4(SOS2):c.213+10A>G rs1785709173
NM_006939.4(SOS2):c.213+13T>C
NM_006939.4(SOS2):c.213+16T>C
NM_006939.4(SOS2):c.213+18A>C rs143888968
NM_006939.4(SOS2):c.213+20T>G
NM_006939.4(SOS2):c.213+7A>G
NM_006939.4(SOS2):c.2136A>G (p.Leu712=)
NM_006939.4(SOS2):c.2137G>C (p.Glu713Gln) rs534384816
NM_006939.4(SOS2):c.214-20G>A
NM_006939.4(SOS2):c.214-20G>T
NM_006939.4(SOS2):c.214-7T>G
NM_006939.4(SOS2):c.214-9A>G
NM_006939.4(SOS2):c.214-9A>T
NM_006939.4(SOS2):c.2146A>G (p.Ile716Val)
NM_006939.4(SOS2):c.2148T>G (p.Ile716Met)
NM_006939.4(SOS2):c.214G>A (p.Glu72Lys)
NM_006939.4(SOS2):c.2155G>A (p.Val719Ile)
NM_006939.4(SOS2):c.2156T>G (p.Val719Gly)
NM_006939.4(SOS2):c.2161+15G>T
NM_006939.4(SOS2):c.2161+16G>T
NM_006939.4(SOS2):c.2161+16del rs780462582
NM_006939.4(SOS2):c.2161+19del rs1555369697
NM_006939.4(SOS2):c.2161+5A>G
NM_006939.4(SOS2):c.2161+7_2161+11del
NM_006939.4(SOS2):c.2162-10C>A
NM_006939.4(SOS2):c.2162-10C>G
NM_006939.4(SOS2):c.2162-12T>C
NM_006939.4(SOS2):c.2162-15G>A
NM_006939.4(SOS2):c.2162-18T>C
NM_006939.4(SOS2):c.2162-6T>A
NM_006939.4(SOS2):c.2164A>C (p.Lys722Gln)
NM_006939.4(SOS2):c.2166A>T (p.Lys722Asn) rs769787486
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) rs1566827698
NM_006939.4(SOS2):c.2170A>G (p.Met724Val)
NM_006939.4(SOS2):c.217C>A (p.Arg73=)
NM_006939.4(SOS2):c.2180G>T (p.Trp727Leu)
NM_006939.4(SOS2):c.2182G>A (p.Val728Ile) rs2139595594
NM_006939.4(SOS2):c.2190A>C (p.Ser730=)
NM_006939.4(SOS2):c.2193T>G (p.Ile731Met)
NM_006939.4(SOS2):c.2203A>G (p.Ile735Val)
NM_006939.4(SOS2):c.220G>A (p.Val74Ile) rs1886470934
NM_006939.4(SOS2):c.2214G>A (p.Lys738=)
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2217G>T (p.Lys739Asn) rs186110427
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr) rs1594973893
NM_006939.4(SOS2):c.2231_2232inv (p.Asn744Ser)
NM_006939.4(SOS2):c.2232_2233delinsTA (p.Gly745Arg)
NM_006939.4(SOS2):c.2232_2233delinsTC (p.Gly745Arg)
NM_006939.4(SOS2):c.2236G>A (p.Val746Ile)
NM_006939.4(SOS2):c.223C>G (p.Gln75Glu)
NM_006939.4(SOS2):c.2240G>A (p.Ser747Asn)
NM_006939.4(SOS2):c.2241C>T (p.Ser747=)
NM_006939.4(SOS2):c.2243A>G (p.His748Arg)
NM_006939.4(SOS2):c.2249T>C (p.Ile750Thr)
NM_006939.4(SOS2):c.2249T>G (p.Ile750Ser)
NM_006939.4(SOS2):c.224A>G (p.Gln75Arg) rs2139783861
NM_006939.4(SOS2):c.2262T>C (p.Ser754=)
NM_006939.4(SOS2):c.2268T>G (p.Pro756=) rs1555369534
NM_006939.4(SOS2):c.2272C>G (p.Pro758Ala)
NM_006939.4(SOS2):c.2276T>C (p.Ile759Thr)
NM_006939.4(SOS2):c.2284C>A (p.His762Asn)
NM_006939.4(SOS2):c.2290A>C (p.Ser764Arg)
NM_006939.4(SOS2):c.2303A>C (p.Gln768Pro)
NM_006939.4(SOS2):c.2304G>T (p.Gln768His) rs778281839
NM_006939.4(SOS2):c.2307T>A (p.Phe769Leu)
NM_006939.4(SOS2):c.230C>G (p.Thr77Ser) rs565261873
NM_006939.4(SOS2):c.2313A>G (p.Thr771=)
NM_006939.4(SOS2):c.2316T>G (p.Phe772Leu) rs2139594970
NM_006939.4(SOS2):c.2318A>C (p.Asp773Ala) rs1884612400
NM_006939.4(SOS2):c.2320C>G (p.Leu774Val)
NM_006939.4(SOS2):c.2322C>G (p.Leu774=) rs781235783
NM_006939.4(SOS2):c.2328A>T (p.Thr776=) rs116162949
NM_006939.4(SOS2):c.2329C>T (p.Leu777Phe) rs151074097
NM_006939.4(SOS2):c.2337A>G (p.Pro779=)
NM_006939.4(SOS2):c.2345T>C (p.Ile782Thr)
NM_006939.4(SOS2):c.2347G>C (p.Ala783Pro)
NM_006939.4(SOS2):c.2348C>T (p.Ala783Val)
NM_006939.4(SOS2):c.2351G>A (p.Arg784His)
NM_006939.4(SOS2):c.2354A>G (p.Gln785Arg)
NM_006939.4(SOS2):c.2356C>T (p.Leu786=) rs1884611451
NM_006939.4(SOS2):c.2359A>C (p.Thr787Pro)
NM_006939.4(SOS2):c.2361A>G (p.Thr787=)
NM_006939.4(SOS2):c.2362C>G (p.Leu788Val) rs771681478
NM_006939.4(SOS2):c.2363T>A (p.Leu788His)
NM_006939.4(SOS2):c.2369A>G (p.Glu790Gly)
NM_006939.4(SOS2):c.237T>A (p.Pro79=)
NM_006939.4(SOS2):c.2384+10_2384+13del
NM_006939.4(SOS2):c.2384+16_2384+21del rs750693332
NM_006939.4(SOS2):c.2384+18A>G
NM_006939.4(SOS2):c.2384+20G>T
NM_006939.4(SOS2):c.2385-19C>T
NM_006939.4(SOS2):c.2385-4A>G
NM_006939.4(SOS2):c.2394A>G (p.Gln798=)
NM_006939.4(SOS2):c.2397G>A (p.Pro799=) rs770022419
NM_006939.4(SOS2):c.2406T>C (p.Leu802=)
NM_006939.4(SOS2):c.2413A>G (p.Ser805Gly)
NM_006939.4(SOS2):c.2414G>A (p.Ser805Asn)
NM_006939.4(SOS2):c.2430A>T (p.Glu810Asp)
NM_006939.4(SOS2):c.2435A>G (p.Lys812Arg)
NM_006939.4(SOS2):c.2441T>G (p.Ile814Arg)
NM_006939.4(SOS2):c.2442A>C (p.Ile814=)
NM_006939.4(SOS2):c.2452A>C (p.Asn818His)
NM_006939.4(SOS2):c.2453A>G (p.Asn818Ser)
NM_006939.4(SOS2):c.2460A>G (p.Leu820=)
NM_006939.4(SOS2):c.2466G>A (p.Met822Ile)
NM_006939.4(SOS2):c.2472C>A (p.Arg824=)
NM_006939.4(SOS2):c.2485C>T (p.Leu829Phe)
NM_006939.4(SOS2):c.2490C>T (p.Thr830=)
NM_006939.4(SOS2):c.2493C>A (p.Leu831=)
NM_006939.4(SOS2):c.2493C>T (p.Leu831=)
NM_006939.4(SOS2):c.2504+15A>T
NM_006939.4(SOS2):c.2505-11G>A
NM_006939.4(SOS2):c.2505-8G>A
NM_006939.4(SOS2):c.2505-8G>T
NM_006939.4(SOS2):c.2505A>G (p.Lys835=)
NM_006939.4(SOS2):c.2509A>G (p.Ile837Val) rs1469543967
NM_006939.4(SOS2):c.2510T>C (p.Ile837Thr)
NM_006939.4(SOS2):c.2520A>C (p.Ala840=)
NM_006939.4(SOS2):c.2522A>G (p.Glu841Gly)
NM_006939.4(SOS2):c.252A>G (p.Lys84=)
NM_006939.4(SOS2):c.2531A>C (p.Glu844Ala)
NM_006939.4(SOS2):c.2539G>T (p.Val847Leu)
NM_006939.4(SOS2):c.2551A>C (p.Ser851Arg)
NM_006939.4(SOS2):c.2554A>C (p.Arg852=)
NM_006939.4(SOS2):c.2561T>C (p.Ile854Thr)
NM_006939.4(SOS2):c.2562A>G (p.Ile854Met)
NM_006939.4(SOS2):c.2569C>G (p.Leu857Val)
NM_006939.4(SOS2):c.2571G>A (p.Leu857=)
NM_006939.4(SOS2):c.2572C>A (p.Gln858Lys)
NM_006939.4(SOS2):c.2574A>G (p.Gln858=)
NM_006939.4(SOS2):c.2585A>G (p.Asp862Gly)
NM_006939.4(SOS2):c.2586T>C (p.Asp862=) rs1594969928
NM_006939.4(SOS2):c.263C>T (p.Ala88Val)
NM_006939.4(SOS2):c.2654A>G (p.Asp885Gly)
NM_006939.4(SOS2):c.2661C>G (p.Thr887=)
NM_006939.4(SOS2):c.2667+13C>T
NM_006939.4(SOS2):c.2667+14T>C
NM_006939.4(SOS2):c.2667+16A>G
NM_006939.4(SOS2):c.2667+20T>G
NM_006939.4(SOS2):c.2667G>T (p.Glu889Asp)
NM_006939.4(SOS2):c.2668-11_2668-9dup
NM_006939.4(SOS2):c.2668-18A>G
NM_006939.4(SOS2):c.2668-19A>G
NM_006939.4(SOS2):c.2668-19A>T
NM_006939.4(SOS2):c.2668-20C>G
NM_006939.4(SOS2):c.2668-20C>T
NM_006939.4(SOS2):c.2668-4del rs2139556831
NM_006939.4(SOS2):c.2668G>A (p.Ala890Thr)
NM_006939.4(SOS2):c.2671C>T (p.Leu891=) rs2139556792
NM_006939.4(SOS2):c.2672T>A (p.Leu891Gln)
NM_006939.4(SOS2):c.2701G>A (p.Glu901Lys) rs556373963
NM_006939.4(SOS2):c.2707G>C (p.Val903Leu)
NM_006939.4(SOS2):c.2711A>G (p.Glu904Gly)
NM_006939.4(SOS2):c.2723A>G (p.Asp908Gly)
NM_006939.4(SOS2):c.272A>C (p.Gln91Pro)
NM_006939.4(SOS2):c.2735A>G (p.Lys912Arg)
NM_006939.4(SOS2):c.2740C>T (p.Leu914=) rs1363925093
NM_006939.4(SOS2):c.2741T>A (p.Leu914Gln)
NM_006939.4(SOS2):c.2742A>G (p.Leu914=)
NM_006939.4(SOS2):c.2754_2758del (p.Lys918fs)
NM_006939.4(SOS2):c.2756C>T (p.Ser919Leu)
NM_006939.4(SOS2):c.2762A>G (p.Asn921Ser)
NM_006939.4(SOS2):c.2766A>T (p.Pro922=)
NM_006939.4(SOS2):c.2767C>T (p.Pro923Ser)
NM_006939.4(SOS2):c.2774T>C (p.Val925Ala)
NM_006939.4(SOS2):c.2784T>A (p.Phe928Leu)
NM_006939.4(SOS2):c.2785+12A>T
NM_006939.4(SOS2):c.2785+13A>T
NM_006939.4(SOS2):c.2785+14T>C
NM_006939.4(SOS2):c.2785+16T>C
NM_006939.4(SOS2):c.2785+16T>G
NM_006939.4(SOS2):c.2785+18_2785+19delinsTT
NM_006939.4(SOS2):c.2785+9C>G rs2139556419
NM_006939.4(SOS2):c.2786-13T>C
NM_006939.4(SOS2):c.2786-16_2786-15insG
NM_006939.4(SOS2):c.2786-18T>C
NM_006939.4(SOS2):c.2786-18_2786-17dup rs201957103
NM_006939.4(SOS2):c.2786-18dup rs201957103
NM_006939.4(SOS2):c.2786-1G>A
NM_006939.4(SOS2):c.2786-6del rs201957103
NM_006939.4(SOS2):c.2790A>G (p.Ile930Met)
NM_006939.4(SOS2):c.280A>G (p.Ile94Val)
NM_006939.4(SOS2):c.2814C>T (p.Thr938=)
NM_006939.4(SOS2):c.2815G>A (p.Glu939Lys)
NM_006939.4(SOS2):c.2832T>C (p.Asp944=)
NM_006939.4(SOS2):c.2833T>A (p.Phe945Ile)
NM_006939.4(SOS2):c.2838A>T (p.Leu946Phe)
NM_006939.4(SOS2):c.2853A>G (p.Lys951=)
NM_006939.4(SOS2):c.2854G>T (p.Asp952Tyr)
NM_006939.4(SOS2):c.2857T>A (p.Leu953Ile)
NM_006939.4(SOS2):c.2864A>G (p.Asn955Ser)
NM_006939.4(SOS2):c.2880G>A (p.Arg960=)
NM_006939.4(SOS2):c.288A>G (p.Lys96=)
NM_006939.4(SOS2):c.2895T>C (p.Ile965=)
NM_006939.4(SOS2):c.2898T>G (p.Thr966=)
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln) rs777574895
NM_006939.4(SOS2):c.2910G>A (p.Gln970=)
NM_006939.4(SOS2):c.2919G>C (p.Gln973His) rs1884164664
NM_006939.4(SOS2):c.2939G>A (p.Arg980Gln) rs2139550610
NM_006939.4(SOS2):c.2953A>G (p.Met985Val)
NM_006939.4(SOS2):c.2954T>C (p.Met985Thr) rs2139550560
NM_006939.4(SOS2):c.2958+12C>T
NM_006939.4(SOS2):c.2958+9T>C
NM_006939.4(SOS2):c.2959-12_2959-9del rs780266222
NM_006939.4(SOS2):c.2959-15T>C
NM_006939.4(SOS2):c.2959-19G>T
NM_006939.4(SOS2):c.2959-20T>G rs375042033
NM_006939.4(SOS2):c.2959-4C>A
NM_006939.4(SOS2):c.295C>T (p.Arg99Ter)
NM_006939.4(SOS2):c.2962T>A (p.Phe988Ile)
NM_006939.4(SOS2):c.2967del (p.Phe989fs)
NM_006939.4(SOS2):c.296G>A (p.Arg99Gln) rs369592322
NM_006939.4(SOS2):c.2971A>G (p.Asn991Asp)
NM_006939.4(SOS2):c.2973C>G (p.Asn991Lys) rs1883999905
NM_006939.4(SOS2):c.2974C>T (p.Leu992Phe)
NM_006939.4(SOS2):c.2979C>G (p.Asn993Lys) rs768403750
NM_006939.4(SOS2):c.297A>C (p.Arg99=)
NM_006939.4(SOS2):c.2980C>G (p.Pro994Ala) rs1883999639
NM_006939.4(SOS2):c.2981C>G (p.Pro994Arg) rs1883999558
NM_006939.4(SOS2):c.2982C>T (p.Pro994=) rs1432970491
NM_006939.4(SOS2):c.2983A>G (p.Met995Val) rs933544183
NM_006939.4(SOS2):c.2986G>A (p.Gly996Arg) rs780598157
NM_006939.4(SOS2):c.2989A>G (p.Ser997Gly)
NM_006939.4(SOS2):c.2990G>T (p.Ser997Ile)
NM_006939.4(SOS2):c.2992G>A (p.Ala998Thr)
NM_006939.4(SOS2):c.2994A>T (p.Ala998=)
NM_006939.4(SOS2):c.2996C>A (p.Ser999Tyr)
NM_006939.4(SOS2):c.2997T>C (p.Ser999=)
NM_006939.4(SOS2):c.299G>A (p.Arg100Lys)
NM_006939.4(SOS2):c.2T>C (p.Met1Thr)
NM_006939.4(SOS2):c.3002A>G (p.Lys1001Arg)
NM_006939.4(SOS2):c.3003A>G (p.Lys1001=) rs546284255
NM_006939.4(SOS2):c.3006G>A (p.Glu1002=)
NM_006939.4(SOS2):c.3016T>C (p.Tyr1006His)
NM_006939.4(SOS2):c.3023del (p.Phe1008fs) rs2139528773
NM_006939.4(SOS2):c.3027C>G (p.Asn1009Lys)
NM_006939.4(SOS2):c.3028A>G (p.Lys1010Glu) rs181284424
NM_006939.4(SOS2):c.3042T>G (p.Ile1014Met) rs1447097552
NM_006939.4(SOS2):c.3047C>G (p.Pro1016Arg)
NM_006939.4(SOS2):c.304C>T (p.Pro102Ser) rs2139783538
NM_006939.4(SOS2):c.3055T>C (p.Cys1019Arg)
NM_006939.4(SOS2):c.3064C>A (p.Pro1022Thr) rs2139528591
NM_006939.4(SOS2):c.3067C>T (p.Pro1023Ser) rs1287471667
NM_006939.4(SOS2):c.3075+10T>C
NM_006939.4(SOS2):c.3075+11dup
NM_006939.4(SOS2):c.3075+13T>C rs2139528519
NM_006939.4(SOS2):c.3075+14A>G
NM_006939.4(SOS2):c.3075+20G>A
NM_006939.4(SOS2):c.3076-10C>G
NM_006939.4(SOS2):c.3076-12T>C rs2139513366
NM_006939.4(SOS2):c.3076-19T>C
NM_006939.4(SOS2):c.3076-5C>T
NM_006939.4(SOS2):c.3076-8T>C
NM_006939.4(SOS2):c.3077C>T (p.Pro1026Leu) rs2139513281
NM_006939.4(SOS2):c.3080G>A (p.Arg1027Lys)
NM_006939.4(SOS2):c.3081G>A (p.Arg1027=)
NM_006939.4(SOS2):c.3089C>G (p.Thr1030Ser)
NM_006939.4(SOS2):c.3102dup (p.Ser1035fs)
NM_006939.4(SOS2):c.3107C>G (p.Pro1036Arg)
NM_006939.4(SOS2):c.3114A>G (p.Ile1038Met) rs1883841371
NM_006939.4(SOS2):c.3116G>A (p.Arg1039Lys)
NM_006939.4(SOS2):c.3124A>C (p.Thr1042Pro)
NM_006939.4(SOS2):c.3134A>G (p.His1045Arg)
NM_006939.4(SOS2):c.3142A>T (p.Thr1048Ser)
NM_006939.4(SOS2):c.3145T>C (p.Ser1049Pro) rs2139513028
NM_006939.4(SOS2):c.3151A>G (p.Thr1051Ala)
NM_006939.4(SOS2):c.3152C>T (p.Thr1051Ile)
NM_006939.4(SOS2):c.3153T>C (p.Thr1051=)
NM_006939.4(SOS2):c.3165C>A (p.His1055Gln)
NM_006939.4(SOS2):c.3171A>G (p.Thr1057=)
NM_006939.4(SOS2):c.3172C>T (p.Pro1058Ser) rs753668226
NM_006939.4(SOS2):c.3173C>G (p.Pro1058Arg)
NM_006939.4(SOS2):c.3173C>T (p.Pro1058Leu)
NM_006939.4(SOS2):c.3184G>C (p.Glu1062Gln)
NM_006939.4(SOS2):c.3190T>A (p.Cys1064Ser)
NM_006939.4(SOS2):c.3190T>C (p.Cys1064Arg) rs1224696199
NM_006939.4(SOS2):c.3191G>A (p.Cys1064Tyr)
NM_006939.4(SOS2):c.3194A>C (p.Lys1065Thr) rs1286858047
NM_006939.4(SOS2):c.3195A>C (p.Lys1065Asn) rs2139512774
NM_006939.4(SOS2):c.3208C>T (p.Arg1070Trp)
NM_006939.4(SOS2):c.3209G>A (p.Arg1070Gln)
NM_006939.4(SOS2):c.3211A>G (p.Ile1071Val)
NM_006939.4(SOS2):c.3216T>C (p.Ala1072=)
NM_006939.4(SOS2):c.3237A>G (p.Thr1079=)
NM_006939.4(SOS2):c.3247C>T (p.Pro1083Ser)
NM_006939.4(SOS2):c.324C>A (p.Asp108Glu)
NM_006939.4(SOS2):c.3250A>C (p.Thr1084Pro)
NM_006939.4(SOS2):c.3251C>T (p.Thr1084Ile)
NM_006939.4(SOS2):c.3256C>T (p.Pro1086Ser)
NM_006939.4(SOS2):c.3257C>T (p.Pro1086Leu)
NM_006939.4(SOS2):c.3260A>G (p.Asn1087Ser)
NM_006939.4(SOS2):c.3263C>T (p.Thr1088Ile)
NM_006939.4(SOS2):c.3266del (p.Pro1089fs)
NM_006939.4(SOS2):c.3271A>T (p.Thr1091Ser) rs1210330980
NM_006939.4(SOS2):c.3277C>G (p.Pro1093Ala)
NM_006939.4(SOS2):c.3284C>G (p.Ser1095Cys)
NM_006939.4(SOS2):c.3286G>A (p.Ala1096Thr)
NM_006939.4(SOS2):c.3295G>C (p.Asp1099His)
NM_006939.4(SOS2):c.3301A>C (p.Ser1101Arg)
NM_006939.4(SOS2):c.3302G>A (p.Ser1101Asn) rs1419463844
NM_006939.4(SOS2):c.3304G>A (p.Val1102Ile)
NM_006939.4(SOS2):c.3308T>C (p.Phe1103Ser)
NM_006939.4(SOS2):c.330C>A (p.Ile110=)
NM_006939.4(SOS2):c.3312A>G (p.Leu1104=)
NM_006939.4(SOS2):c.3313G>A (p.Asp1105Asn)
NM_006939.4(SOS2):c.3327C>A (p.Asn1109Lys)
NM_006939.4(SOS2):c.3327C>T (p.Asn1109=)
NM_006939.4(SOS2):c.3330C>G (p.Ser1110Arg)
NM_006939.4(SOS2):c.3332C>T (p.Ser1111Phe)
NM_006939.4(SOS2):c.3337+10T>C
NM_006939.4(SOS2):c.3337+17_3337+18dup
NM_006939.4(SOS2):c.3337+4A>G rs924531063
NM_006939.4(SOS2):c.3338-14del rs1362501070
NM_006939.4(SOS2):c.3338-8del rs2139510301
NM_006939.4(SOS2):c.333T>C (p.His111=)
NM_006939.4(SOS2):c.3341G>A (p.Ser1114Asn)
NM_006939.4(SOS2):c.3344A>G (p.Asn1115Ser)
NM_006939.4(SOS2):c.3347G>A (p.Ser1116Asn)
NM_006939.4(SOS2):c.3348C>T (p.Ser1116=)
NM_006939.4(SOS2):c.3358C>T (p.Pro1120Ser)
NM_006939.4(SOS2):c.3360A>C (p.Pro1120=) rs147513220
NM_006939.4(SOS2):c.3379+11T>C
NM_006939.4(SOS2):c.3379+17T>C
NM_006939.4(SOS2):c.3379+4_3379+7del rs2139510043
NM_006939.4(SOS2):c.3379+6T>C rs2139510050
NM_006939.4(SOS2):c.3379+7A>G
NM_006939.4(SOS2):c.3380-10T>C
NM_006939.4(SOS2):c.3380-10del rs749810829
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys) rs1566815476
NM_006939.4(SOS2):c.3384T>G (p.Ser1128=)
NM_006939.4(SOS2):c.3390T>C (p.Phe1130=)
NM_006939.4(SOS2):c.3392G>A (p.Ser1131Asn)
NM_006939.4(SOS2):c.3393T>C (p.Ser1131=)
NM_006939.4(SOS2):c.3395C>T (p.Ser1132Leu) rs2139472231
NM_006939.4(SOS2):c.3396A>C (p.Ser1132=)
NM_006939.4(SOS2):c.339G>C (p.Ser113=)
NM_006939.4(SOS2):c.33del (p.Phe11fs)
NM_006939.4(SOS2):c.3408A>T (p.Leu1136Phe)
NM_006939.4(SOS2):c.3410A>G (p.His1137Arg)
NM_006939.4(SOS2):c.3416T>G (p.Leu1139Arg)
NM_006939.4(SOS2):c.3420T>G (p.Ser1140Arg)
NM_006939.4(SOS2):c.3430C>G (p.Leu1144Val)
NM_006939.4(SOS2):c.3440C>T (p.Pro1147Leu)
NM_006939.4(SOS2):c.3443C>G (p.Pro1148Arg) rs1375287247
NM_006939.4(SOS2):c.3443_3454del (p.Pro1148_Pro1151del) rs777487865
NM_006939.4(SOS2):c.3447T>G (p.Leu1149=)
NM_006939.4(SOS2):c.344A>G (p.Lys115Arg)
NM_006939.4(SOS2):c.345+11A>G
NM_006939.4(SOS2):c.345+3A>G
NM_006939.4(SOS2):c.345+5C>T
NM_006939.4(SOS2):c.345+5_345+7del
NM_006939.4(SOS2):c.345+6A>G rs2139783376
NM_006939.4(SOS2):c.345+7A>G
NM_006939.4(SOS2):c.3452C>G (p.Pro1151Arg)
NM_006939.4(SOS2):c.3455G>A (p.Arg1152Gln)
NM_006939.4(SOS2):c.346-10_346-8del
NM_006939.4(SOS2):c.346-11T>C
NM_006939.4(SOS2):c.346-21_346-17del
NM_006939.4(SOS2):c.346-5C>T
NM_006939.4(SOS2):c.346-6T>A
NM_006939.4(SOS2):c.3463T>A (p.Phe1155Ile)
NM_006939.4(SOS2):c.3468T>A (p.Asp1156Glu)
NM_006939.4(SOS2):c.3470A>G (p.His1157Arg)
NM_006939.4(SOS2):c.347A>G (p.Glu116Gly)
NM_006939.4(SOS2):c.3481A>C (p.Asn1161His)
NM_006939.4(SOS2):c.3481A>G (p.Asn1161Asp)
NM_006939.4(SOS2):c.3486C>T (p.Ser1162=)
NM_006939.4(SOS2):c.3489+14C>G
NM_006939.4(SOS2):c.3489+15T>G
NM_006939.4(SOS2):c.3489+17T>C
NM_006939.4(SOS2):c.3489+18A>G
NM_006939.4(SOS2):c.3489+4dup
NM_006939.4(SOS2):c.3489+8del
NM_006939.4(SOS2):c.3489+9C>T
NM_006939.4(SOS2):c.348A>G (p.Glu116=)
NM_006939.4(SOS2):c.3490-10_3490-9insC
NM_006939.4(SOS2):c.3490-13_3490-11dup rs10658395
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-13dup rs10658395
NM_006939.4(SOS2):c.3490-14dup
NM_006939.4(SOS2):c.3490-18A>G
NM_006939.4(SOS2):c.3490-18del rs1302818165
NM_006939.4(SOS2):c.3490-2dup rs2139465845
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.3501A>G (p.Lys1167=)
NM_006939.4(SOS2):c.3506A>T (p.Asp1169Val)
NM_006939.4(SOS2):c.3508G>T (p.Asp1170Tyr)
NM_006939.4(SOS2):c.3510T>C (p.Asp1170=)
NM_006939.4(SOS2):c.3513T>C (p.Asp1171=)
NM_006939.4(SOS2):c.3521C>T (p.Ala1174Val)
NM_006939.4(SOS2):c.3526C>A (p.Pro1176Thr)
NM_006939.4(SOS2):c.3528A>G (p.Pro1176=)
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) rs1566814839
NM_006939.4(SOS2):c.3534A>G (p.Arg1178=)
NM_006939.4(SOS2):c.3539C>T (p.Pro1180Leu)
NM_006939.4(SOS2):c.3540T>G (p.Pro1180=) rs1052780824
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3543T>C (p.Pro1181=)
NM_006939.4(SOS2):c.3544C>A (p.Pro1182Thr)
NM_006939.4(SOS2):c.3544C>T (p.Pro1182Ser)
NM_006939.4(SOS2):c.3559C>T (p.Pro1187Ser)
NM_006939.4(SOS2):c.355G>A (p.Gly119Arg)
NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu) rs1594951526
NM_006939.4(SOS2):c.3561del (p.Arg1188fs)
NM_006939.4(SOS2):c.3571G>A (p.Val1191Ile)
NM_006939.4(SOS2):c.3571G>T (p.Val1191Phe) rs934357386
NM_006939.4(SOS2):c.3574C>T (p.Pro1192Ser)
NM_006939.4(SOS2):c.3578C>T (p.Thr1193Ile)
NM_006939.4(SOS2):c.3583G>A (p.Ala1195Thr)
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val) rs753151750
NM_006939.4(SOS2):c.3588T>C (p.Phe1196=) rs768208805
NM_006939.4(SOS2):c.3591T>C (p.Asp1197=)
NM_006939.4(SOS2):c.3593G>C (p.Gly1198Ala) rs2139465314
NM_006939.4(SOS2):c.3594G>A (p.Gly1198=)
NM_006939.4(SOS2):c.3598C>T (p.Leu1200=)
NM_006939.4(SOS2):c.3601_3605del (p.His1201fs)
NM_006939.4(SOS2):c.3605G>A (p.Ser1202Asn)
NM_006939.4(SOS2):c.3609A>T (p.Pro1203=)
NM_006939.4(SOS2):c.3613C>A (p.Pro1205Thr)
NM_006939.4(SOS2):c.3619_3620delinsGT (p.Pro1207Val)
NM_006939.4(SOS2):c.3621_3632del (p.Pro1208_Pro1211del)
NM_006939.4(SOS2):c.3624A>G (p.Pro1208=)
NM_006939.4(SOS2):c.3631C>G (p.Pro1211Ala)
NM_006939.4(SOS2):c.3632C>T (p.Pro1211Leu)
NM_006939.4(SOS2):c.3637_3693dup (p.Pro1231_Phe1232insProAspThrProProProValProLeuArgProProGluHisPheIleAsnCysPro)
NM_006939.4(SOS2):c.3638C>G (p.Pro1213Arg)
NM_006939.4(SOS2):c.3645C>G (p.Thr1215=)
NM_006939.4(SOS2):c.3655G>A (p.Val1219Ile)
NM_006939.4(SOS2):c.3663T>G (p.Leu1221=)
NM_006939.4(SOS2):c.3664C>T (p.Arg1222Trp)
NM_006939.4(SOS2):c.3665G>A (p.Arg1222Gln)
NM_006939.4(SOS2):c.3665G>C (p.Arg1222Pro)
NM_006939.4(SOS2):c.3665G>T (p.Arg1222Leu)
NM_006939.4(SOS2):c.3671C>T (p.Pro1224Leu) rs1883396353
NM_006939.4(SOS2):c.3672A>C (p.Pro1224=)
NM_006939.4(SOS2):c.3677A>G (p.His1226Arg)
NM_006939.4(SOS2):c.3677A>T (p.His1226Leu)
NM_006939.4(SOS2):c.3681T>A (p.Phe1227Leu)
NM_006939.4(SOS2):c.3681T>C (p.Phe1227=)
NM_006939.4(SOS2):c.3682A>G (p.Ile1228Val)
NM_006939.4(SOS2):c.3684A>T (p.Ile1228=)
NM_006939.4(SOS2):c.3700C>G (p.Leu1234Val)
NM_006939.4(SOS2):c.3707C>T (p.Pro1236Leu) rs1403796339
NM_006939.4(SOS2):c.3708A>G (p.Pro1236=)
NM_006939.4(SOS2):c.3714A>T (p.Pro1238=)
NM_006939.4(SOS2):c.3719G>A (p.Gly1240Glu)
NM_006939.4(SOS2):c.3719G>C (p.Gly1240Ala)
NM_006939.4(SOS2):c.3721C>T (p.His1241Tyr)
NM_006939.4(SOS2):c.3722A>G (p.His1241Arg)
NM_006939.4(SOS2):c.3730A>G (p.Arg1244Gly)
NM_006939.4(SOS2):c.3741C>G (p.Asp1247Glu) rs1883393016
NM_006939.4(SOS2):c.3747C>T (p.Leu1249=)
NM_006939.4(SOS2):c.374A>G (p.His125Arg)
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del) rs775506222
NM_006939.4(SOS2):c.3756T>G (p.Ile1252Met)
NM_006939.4(SOS2):c.3758G>A (p.Ser1253Asn)
NM_006939.4(SOS2):c.375T>C (p.His125=)
NM_006939.4(SOS2):c.3761C>T (p.Thr1254Met)
NM_006939.4(SOS2):c.3762G>A (p.Thr1254=) rs769536087
NM_006939.4(SOS2):c.3767C>A (p.Pro1256Gln)
NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala) rs1344396759
NM_006939.4(SOS2):c.3773C>T (p.Ser1258Leu)
NM_006939.4(SOS2):c.3779G>A (p.Ser1260Asn)
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro) rs1555367637
NM_006939.4(SOS2):c.3785C>T (p.Pro1262Leu) rs2139464111
NM_006939.4(SOS2):c.3794C>T (p.Thr1265Ile) rs2139464050
NM_006939.4(SOS2):c.3797C>T (p.Pro1266Leu) rs2139464021
NM_006939.4(SOS2):c.3798C>G (p.Pro1266=) rs1271341173
NM_006939.4(SOS2):c.37GAG[1] (p.Glu14del)
NM_006939.4(SOS2):c.3800C>T (p.Ser1267Phe)
NM_006939.4(SOS2):c.3802C>A (p.Pro1268Thr)
NM_006939.4(SOS2):c.3808G>A (p.Val1270Ile)
NM_006939.4(SOS2):c.3810A>G (p.Val1270=)
NM_006939.4(SOS2):c.3812C>T (p.Pro1271Leu)
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.3813G>C (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.3813G>T (p.Pro1271=)
NM_006939.4(SOS2):c.3814C>A (p.Arg1272Ser) rs1005498417
NM_006939.4(SOS2):c.3817C>G (p.Arg1273Gly)
NM_006939.4(SOS2):c.3817C>T (p.Arg1273Ter)
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln) rs58365465
NM_006939.4(SOS2):c.381C>T (p.Ser127=)
NM_006939.4(SOS2):c.3832A>G (p.Ser1278Gly)
NM_006939.4(SOS2):c.3837T>C (p.Ser1279=)
NM_006939.4(SOS2):c.3842A>G (p.Gln1281Arg)
NM_006939.4(SOS2):c.3849T>C (p.Asn1283=)
NM_006939.4(SOS2):c.3850C>G (p.Leu1284Val)
NM_006939.4(SOS2):c.3862C>T (p.Pro1288Ser)
NM_006939.4(SOS2):c.3869C>A (p.Pro1290His) rs1244881868
NM_006939.4(SOS2):c.3872_3873del (p.Pro1291fs)
NM_006939.4(SOS2):c.3898C>T (p.Pro1300Ser)
NM_006939.4(SOS2):c.3901C>T (p.His1301Tyr)
NM_006939.4(SOS2):c.3906G>A (p.Leu1302=)
NM_006939.4(SOS2):c.390T>G (p.Ile130Met) rs1886426829
NM_006939.4(SOS2):c.3920del (p.Pro1307fs)
NM_006939.4(SOS2):c.3930C>G (p.Tyr1310Ter) rs1214781595
NM_006939.4(SOS2):c.3934C>A (p.Arg1312=) rs775973831
NM_006939.4(SOS2):c.3934C>T (p.Arg1312Trp)
NM_006939.4(SOS2):c.3935G>A (p.Arg1312Gln)
NM_006939.4(SOS2):c.3951C>G (p.Pro1317=)
NM_006939.4(SOS2):c.3951C>T (p.Pro1317=)
NM_006939.4(SOS2):c.3952C>A (p.Pro1318Thr)
NM_006939.4(SOS2):c.3952C>G (p.Pro1318Ala)
NM_006939.4(SOS2):c.3953C>A (p.Pro1318Gln)
NM_006939.4(SOS2):c.3957G>T (p.Leu1319Phe) rs2139462748
NM_006939.4(SOS2):c.3958T>C (p.Tyr1320His) rs950322034
NM_006939.4(SOS2):c.395C>T (p.Ala132Val)
NM_006939.4(SOS2):c.3968C>T (p.Pro1323Leu) rs886041929
NM_006939.4(SOS2):c.3975A>G (p.Leu1325=)
NM_006939.4(SOS2):c.3980del (p.Asn1327fs)
NM_006939.4(SOS2):c.3993C>T (p.Pro1331=)
NM_006939.4(SOS2):c.3996A>G (p.Gln1332=)
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.399A>C (p.Val133=) rs144584870
NM_006939.4(SOS2):c.399A>G (p.Val133=) rs144584870
NM_006939.4(SOS2):c.399A>T (p.Val133=)
NM_006939.4(SOS2):c.405G>A (p.Glu135=) rs754980356
NM_006939.4(SOS2):c.414A>G (p.Ser138=)
NM_006939.4(SOS2):c.42G>T (p.Glu14Asp)
NM_006939.4(SOS2):c.431T>A (p.Leu144Ter)
NM_006939.4(SOS2):c.432G>A (p.Leu144=) rs1051166055
NM_006939.4(SOS2):c.439A>G (p.Asn147Asp)
NM_006939.4(SOS2):c.449T>C (p.Phe150Ser) rs1886424881
NM_006939.4(SOS2):c.453T>C (p.Asn151=) rs2139778987
NM_006939.4(SOS2):c.454A>T (p.Ile152Phe)
NM_006939.4(SOS2):c.459G>A (p.Arg153=)
NM_006939.4(SOS2):c.460C>A (p.His154Asn)
NM_006939.4(SOS2):c.462T>G (p.His154Gln)
NM_006939.4(SOS2):c.465T>C (p.Tyr155=)
NM_006939.4(SOS2):c.468A>C (p.Glu156Asp)
NM_006939.4(SOS2):c.472T>C (p.Ser158Pro)
NM_006939.4(SOS2):c.476A>G (p.Gln159Arg)
NM_006939.4(SOS2):c.483C>T (p.Asp161=)
NM_006939.4(SOS2):c.487A>G (p.Lys163Glu)
NM_006939.4(SOS2):c.489A>G (p.Lys163=)
NM_006939.4(SOS2):c.490G>A (p.Val164Met)
NM_006939.4(SOS2):c.49C>T (p.Pro17Ser) rs750929787
NM_006939.4(SOS2):c.502G>A (p.Ala168Thr) rs2139778845
NM_006939.4(SOS2):c.503C>T (p.Ala168Val)
NM_006939.4(SOS2):c.507T>A (p.Asp169Glu)
NM_006939.4(SOS2):c.510+11C>A rs113890555
NM_006939.4(SOS2):c.510+15G>A rs1359205719
NM_006939.4(SOS2):c.510+15G>T
NM_006939.4(SOS2):c.510+16del
NM_006939.4(SOS2):c.510+3A>G
NM_006939.4(SOS2):c.510+3_510+6del
NM_006939.4(SOS2):c.511-11C>T rs2139734747
NM_006939.4(SOS2):c.511-16G>A
NM_006939.4(SOS2):c.511-17T>A
NM_006939.4(SOS2):c.511-20T>C
NM_006939.4(SOS2):c.511-24_511-18del
NM_006939.4(SOS2):c.511-8T>C
NM_006939.4(SOS2):c.511G>A (p.Val171Ile)
NM_006939.4(SOS2):c.516G>C (p.Leu172Phe) rs561507728
NM_006939.4(SOS2):c.521A>G (p.Asp174Gly) rs2139734704
NM_006939.4(SOS2):c.523A>C (p.Met175Leu) rs1336823806
NM_006939.4(SOS2):c.523A>G (p.Met175Val)
NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)
NM_006939.4(SOS2):c.534G>T (p.Gln178His) rs2139734609
NM_006939.4(SOS2):c.541A>C (p.Ile181Leu)
NM_006939.4(SOS2):c.541A>G (p.Ile181Val)
NM_006939.4(SOS2):c.541A>T (p.Ile181Leu)
NM_006939.4(SOS2):c.542T>C (p.Ile181Thr) rs1886006429
NM_006939.4(SOS2):c.545G>T (p.Gly182Val) rs149487643
NM_006939.4(SOS2):c.546T>A (p.Gly182=)
NM_006939.4(SOS2):c.549G>T (p.Leu183Phe) rs137961578
NM_006939.4(SOS2):c.550G>C (p.Val184Leu)
NM_006939.4(SOS2):c.551T>C (p.Val184Ala)
NM_006939.4(SOS2):c.556C>G (p.Leu186Val) rs2139734457
NM_006939.4(SOS2):c.561T>G (p.Cys187Trp)
NM_006939.4(SOS2):c.563A>G (p.Glu188Gly)
NM_006939.4(SOS2):c.564A>G (p.Glu188=)
NM_006939.4(SOS2):c.567T>C (p.Asp189=)
NM_006939.4(SOS2):c.572C>A (p.Pro191His) rs72681869
NM_006939.4(SOS2):c.574A>C (p.Ser192Arg) rs1886005265
NM_006939.4(SOS2):c.577TCT[1] (p.Ser194del) rs769352438
NM_006939.4(SOS2):c.583G>A (p.Gly195Ser)
NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
NM_006939.4(SOS2):c.586G>C (p.Glu196Gln)
NM_006939.4(SOS2):c.609C>T (p.Val203=)
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.642A>C (p.Leu214=) rs2139734016
NM_006939.4(SOS2):c.655A>G (p.Met219Val)
NM_006939.4(SOS2):c.662T>C (p.Ile221Thr) rs2139733977
NM_006939.4(SOS2):c.66G>A (p.Leu22=)
NM_006939.4(SOS2):c.674G>T (p.Arg225Leu)
NM_006939.4(SOS2):c.679G>A (p.Ala227Thr)
NM_006939.4(SOS2):c.67T>C (p.Leu23=)
NM_006939.4(SOS2):c.693T>C (p.Asp231=) rs2139733831
NM_006939.4(SOS2):c.698A>G (p.Lys233Arg)
NM_006939.4(SOS2):c.69G>C (p.Leu23Phe)
NM_006939.4(SOS2):c.705T>G (p.Phe235Leu)
NM_006939.4(SOS2):c.708A>G (p.Lys236=)
NM_006939.4(SOS2):c.710del (p.Pro237fs) rs2139733738
NM_006939.4(SOS2):c.714+12T>C
NM_006939.4(SOS2):c.714+14T>A
NM_006939.4(SOS2):c.714+14del rs2139733668
NM_006939.4(SOS2):c.714+19T>G
NM_006939.4(SOS2):c.714+1G>A
NM_006939.4(SOS2):c.714+9C>T
NM_006939.4(SOS2):c.715-12_715-8del
NM_006939.4(SOS2):c.715-15C>T rs2139710269
NM_006939.4(SOS2):c.715-15_715-12del
NM_006939.4(SOS2):c.715-18_715-17inv
NM_006939.4(SOS2):c.715-20C>G
NM_006939.4(SOS2):c.715-3C>T
NM_006939.4(SOS2):c.715-4T>A
NM_006939.4(SOS2):c.715G>A (p.Asp239Asn)
NM_006939.4(SOS2):c.718A>G (p.Ile240Val) rs1885779266
NM_006939.4(SOS2):c.724A>G (p.Lys242Glu)
NM_006939.4(SOS2):c.726G>T (p.Lys242Asn)
NM_006939.4(SOS2):c.72C>A (p.Val24=)
NM_006939.4(SOS2):c.744A>G (p.Ser248=) rs2139710078
NM_006939.4(SOS2):c.757T>C (p.Leu253=)
NM_006939.4(SOS2):c.762T>A (p.Thr254=)
NM_006939.4(SOS2):c.764_765del (p.Val255fs)
NM_006939.4(SOS2):c.772T>G (p.Leu258Val)
NM_006939.4(SOS2):c.775G>A (p.Gly259Ser)
NM_006939.4(SOS2):c.776G>A (p.Gly259Asp)
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_006939.4(SOS2):c.800T>C (p.Met267Thr) rs797045167
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_006939.4(SOS2):c.803C>T (p.Thr268Ile)
NM_006939.4(SOS2):c.806A>G (p.Asp269Gly)
NM_006939.4(SOS2):c.817C>G (p.Pro273Ala)
NM_006939.4(SOS2):c.825C>G (p.Pro275=)
NM_006939.4(SOS2):c.835A>C (p.Ser279Arg)
NM_006939.4(SOS2):c.838T>C (p.Cys280Arg) rs2139709714
NM_006939.4(SOS2):c.83G>A (p.Arg28Gln)
NM_006939.4(SOS2):c.842T>C (p.Phe281Ser) rs1555371627
NM_006939.4(SOS2):c.843T>C (p.Phe281=) rs2139709667
NM_006939.4(SOS2):c.846A>G (p.Glu282=) rs776312082
NM_006939.4(SOS2):c.849T>C (p.Asp283=)
NM_006939.4(SOS2):c.851del (p.Leu284fs)
NM_006939.4(SOS2):c.852G>A (p.Leu284=)
NM_006939.4(SOS2):c.858+12A>C
NM_006939.4(SOS2):c.858+12A>G rs1318750223
NM_006939.4(SOS2):c.858+17A>G
NM_006939.4(SOS2):c.858+19T>A rs780544622
NM_006939.4(SOS2):c.858+20T>C
NM_006939.4(SOS2):c.858+5G>C
NM_006939.4(SOS2):c.859-16_859-15del
NM_006939.4(SOS2):c.859-19T>A
NM_006939.4(SOS2):c.859-19T>C rs1435577590
NM_006939.4(SOS2):c.859-19del
NM_006939.4(SOS2):c.859-3T>C
NM_006939.4(SOS2):c.859-4del rs776327707
NM_006939.4(SOS2):c.864A>G (p.Gln288=)
NM_006939.4(SOS2):c.87+10A>C
NM_006939.4(SOS2):c.87+10del
NM_006939.4(SOS2):c.87+11G>A
NM_006939.4(SOS2):c.87+11G>C
NM_006939.4(SOS2):c.87+11_87+12insCT
NM_006939.4(SOS2):c.87+18G>A
NM_006939.4(SOS2):c.88-12T>C
NM_006939.4(SOS2):c.88-14dup rs779198092
NM_006939.4(SOS2):c.88-16T>C
NM_006939.4(SOS2):c.88-19T>C
NM_006939.4(SOS2):c.88-19T>G
NM_006939.4(SOS2):c.88-6T>G
NM_006939.4(SOS2):c.88-6_88-5insC
NM_006939.4(SOS2):c.88-8T>C
NM_006939.4(SOS2):c.88-9T>G
NM_006939.4(SOS2):c.892C>T (p.Gln298Ter)
NM_006939.4(SOS2):c.894G>A (p.Gln298=) rs1477278734
NM_006939.4(SOS2):c.898A>G (p.Ile300Val) rs1248787575
NM_006939.4(SOS2):c.907C>T (p.Pro303Ser)
NM_006939.4(SOS2):c.908C>T (p.Pro303Leu)
NM_006939.4(SOS2):c.910G>C (p.Glu304Gln)
NM_006939.4(SOS2):c.917A>G (p.His306Arg)
NM_006939.4(SOS2):c.932A>C (p.Lys311Thr)
NM_006939.4(SOS2):c.934T>C (p.Leu312=)
NM_006939.4(SOS2):c.940G>A (p.Ala314Thr) rs1885702958
NM_006939.4(SOS2):c.942C>G (p.Ala314=)
NM_006939.4(SOS2):c.944G>A (p.Arg315Lys) rs2139702139
NM_006939.4(SOS2):c.949G>A (p.Ala317Thr) rs2139702095
NM_006939.4(SOS2):c.955G>A (p.Ala319Thr)
NM_006939.4(SOS2):c.956C>T (p.Ala319Val) rs1329480973
NM_006939.4(SOS2):c.957T>C (p.Ala319=)
NM_006939.4(SOS2):c.958C>G (p.Leu320Val)
NM_006939.4(SOS2):c.960A>G (p.Leu320=)
NM_006939.4(SOS2):c.961C>T (p.His321Tyr)
NM_006939.4(SOS2):c.969+13T>C
NM_006939.4(SOS2):c.969+18G>T
NM_006939.4(SOS2):c.969+18dup
NM_006939.4(SOS2):c.969+19T>G
NM_006939.4(SOS2):c.969+20T>C
NM_006939.4(SOS2):c.969+5A>G
NM_006939.4(SOS2):c.969+6C>T rs1194667646
NM_006939.4(SOS2):c.970-15C>A
NM_006939.4(SOS2):c.970-15C>G
NM_006939.4(SOS2):c.970-16T>C
NM_006939.4(SOS2):c.975T>G (p.Ile325Met) rs2139679163
NM_006939.4(SOS2):c.980A>T (p.Asp327Val)
NM_006939.4(SOS2):c.986_987del (p.Gly328_Phe329insTer)
NM_006939.4(SOS2):c.988A>T (p.Lys330Ter)
NM_006939.4(SOS2):c.995C>G (p.Ala332Gly)
NM_006939.4(SOS2):c.99A>G (p.Gln33=)
NM_006949.4(STXBP2):c.1003C>T (p.Gln335Ter)
NM_006949.4(STXBP2):c.1004A>G (p.Gln335Arg)
NM_006949.4(STXBP2):c.1008C>G (p.Tyr336Ter)
NM_006949.4(STXBP2):c.1009C>T (p.Gln337Ter)
NM_006949.4(STXBP2):c.1017G>A (p.Glu339=)
NM_006949.4(STXBP2):c.1020G>A (p.Leu340=)
NM_006949.4(STXBP2):c.1026+11G>A
NM_006949.4(STXBP2):c.1026+11G>T
NM_006949.4(STXBP2):c.1026+15G>T
NM_006949.4(STXBP2):c.1026+17A>C rs1171346483
NM_006949.4(STXBP2):c.1026+18G>A
NM_006949.4(STXBP2):c.1026+1G>T
NM_006949.4(STXBP2):c.1026+2T>A
NM_006949.4(STXBP2):c.1026+8C>G
NM_006949.4(STXBP2):c.1027-11G>T
NM_006949.4(STXBP2):c.1027-12T>C rs2146220992
NM_006949.4(STXBP2):c.1027-14C>T
NM_006949.4(STXBP2):c.1027-15C>T
NM_006949.4(STXBP2):c.1027-17C>A
NM_006949.4(STXBP2):c.1027-17C>T
NM_006949.4(STXBP2):c.1027-17CACCCTG[3] rs776600326
NM_006949.4(STXBP2):c.1027-4G>T
NM_006949.4(STXBP2):c.1027-7C>T
NM_006949.4(STXBP2):c.1027-8C>T
NM_006949.4(STXBP2):c.1033A>T (p.Thr345Ser)
NM_006949.4(STXBP2):c.1035G>A (p.Thr345=)
NM_006949.4(STXBP2):c.1035G>T (p.Thr345=)
NM_006949.4(STXBP2):c.1047A>C (p.Leu349=)
NM_006949.4(STXBP2):c.1049C>T (p.Ala350Val)
NM_006949.4(STXBP2):c.1050A>G (p.Ala350=)
NM_006949.4(STXBP2):c.1053T>C (p.Asp351=)
NM_006949.4(STXBP2):c.1059T>G (p.Cys353Trp) rs1234333766
NM_006949.4(STXBP2):c.1062G>A (p.Met354Ile) rs752730714
NM_006949.4(STXBP2):c.1064A>T (p.Lys355Met) rs2031967645
NM_006949.4(STXBP2):c.1072A>G (p.Lys358Glu) rs2031968427
NM_006949.4(STXBP2):c.1073A>G (p.Lys358Arg)
NM_006949.4(STXBP2):c.1076del (p.Gly359fs)
NM_006949.4(STXBP2):c.1080G>C (p.Ser360=)
NM_006949.4(STXBP2):c.1089G>C (p.Lys363Asn) rs2031969287
NM_006949.4(STXBP2):c.1092G>A (p.Leu364=)
NM_006949.4(STXBP2):c.1092G>C (p.Leu364=)
NM_006949.4(STXBP2):c.1101G>A (p.Val367=)
NM_006949.4(STXBP2):c.1104G>A (p.Glu368=)
NM_006949.4(STXBP2):c.1107+12_1107+27del rs759584147
NM_006949.4(STXBP2):c.1107+15G>A rs747904049
NM_006949.4(STXBP2):c.1107+16dup
NM_006949.4(STXBP2):c.1107+17G>A rs374453678
NM_006949.4(STXBP2):c.1107+17G>C
NM_006949.4(STXBP2):c.1107+17G>T
NM_006949.4(STXBP2):c.1107+18G>A
NM_006949.4(STXBP2):c.1107+1G>C
NM_006949.4(STXBP2):c.1107+22del
NM_006949.4(STXBP2):c.1107+2T>G
NM_006949.4(STXBP2):c.1107+3G>A
NM_006949.4(STXBP2):c.1107+6G>C
NM_006949.4(STXBP2):c.1107+9G>C rs370755022
NM_006949.4(STXBP2):c.1108-11C>T
NM_006949.4(STXBP2):c.1108-12C>T
NM_006949.4(STXBP2):c.1108-13C>G
NM_006949.4(STXBP2):c.1108-14C>A rs1314091539
NM_006949.4(STXBP2):c.1108-14C>T
NM_006949.4(STXBP2):c.1108-16G>A
NM_006949.4(STXBP2):c.1108-19G>A
NM_006949.4(STXBP2):c.1108-19G>T
NM_006949.4(STXBP2):c.1108-1G>A
NM_006949.4(STXBP2):c.1108-20G>A
NM_006949.4(STXBP2):c.1108-3C>T rs1475882314
NM_006949.4(STXBP2):c.1108-4G>T
NM_006949.4(STXBP2):c.1108-8G>A rs1363310511
NM_006949.4(STXBP2):c.1108-9T>C rs2146226188
NM_006949.4(STXBP2):c.1111C>T (p.Leu371=)
NM_006949.4(STXBP2):c.1114G>C (p.Ala372Pro)
NM_006949.4(STXBP2):c.1116dup (p.Met373fs)
NM_006949.4(STXBP2):c.1117A>G (p.Met373Val)
NM_006949.4(STXBP2):c.1121G>A (p.Gly374Asp)
NM_006949.4(STXBP2):c.1122C>T (p.Gly374=) rs2146226286
NM_006949.4(STXBP2):c.1129G>A (p.Ala377Thr)
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=) rs755758613
NM_006949.4(STXBP2):c.1134G>C (p.Glu378Asp) rs755758613
NM_006949.4(STXBP2):c.1135G>A (p.Gly379Arg)
NM_006949.4(STXBP2):c.1135G>C (p.Gly379Arg)
NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)
NM_006949.4(STXBP2):c.1140G>A (p.Glu380=) rs2146226397
NM_006949.4(STXBP2):c.1143G>A (p.Lys381=)
NM_006949.4(STXBP2):c.1146C>A (p.Ile382=)
NM_006949.4(STXBP2):c.1149G>A (p.Lys383=)
NM_006949.4(STXBP2):c.1156A>C (p.Met386Leu) rs535236814
NM_006949.4(STXBP2):c.1156A>G (p.Met386Val) rs535236814
NM_006949.4(STXBP2):c.1158G>T (p.Met386Ile) rs2146226431
NM_006949.4(STXBP2):c.115C>T (p.Arg39Cys) rs199579207
NM_006949.4(STXBP2):c.1167C>A (p.Ile389=) rs139160342
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=) rs139160342
NM_006949.4(STXBP2):c.1168G>A (p.Val390Ile)
NM_006949.4(STXBP2):c.1169T>C (p.Val390Ala) rs1599403453
NM_006949.4(STXBP2):c.1170T>C (p.Val390=)
NM_006949.4(STXBP2):c.1171C>G (p.Pro391Ala)
NM_006949.4(STXBP2):c.1172C>A (p.Pro391Gln) rs539611010
NM_006949.4(STXBP2):c.1177C>T (p.Leu393=)
NM_006949.4(STXBP2):c.1179G>C (p.Leu393=)
NM_006949.4(STXBP2):c.1188G>C (p.Ala396=)
NM_006949.4(STXBP2):c.1191G>C (p.Ala397=)
NM_006949.4(STXBP2):c.1197C>G (p.Pro399=)
NM_006949.4(STXBP2):c.1200C>T (p.Ala400=)
NM_006949.4(STXBP2):c.1206C>T (p.Asp402=) rs2146226616
NM_006949.4(STXBP2):c.1207_1208del (p.Lys403fs)
NM_006949.4(STXBP2):c.1212C>T (p.Ile404=)
NM_006949.4(STXBP2):c.1214G>C (p.Arg405Pro)
NM_006949.4(STXBP2):c.1215G>T (p.Arg405=)
NM_006949.4(STXBP2):c.1218C>T (p.Val406=)
NM_006949.4(STXBP2):c.1224G>C (p.Leu408=)
NM_006949.4(STXBP2):c.1242G>C (p.Arg414=)
NM_006949.4(STXBP2):c.1245T>C (p.Asn415=)
NM_006949.4(STXBP2):c.1246+11G>C
NM_006949.4(STXBP2):c.1246+11del
NM_006949.4(STXBP2):c.1246+14G>T
NM_006949.4(STXBP2):c.1246+20A>T
NM_006949.4(STXBP2):c.1246+7G>T
NM_006949.4(STXBP2):c.1246+8G>C
NM_006949.4(STXBP2):c.1247-11C>T
NM_006949.4(STXBP2):c.1247-11_1247-9del
NM_006949.4(STXBP2):c.1247-18C>T
NM_006949.4(STXBP2):c.1247-19G>A
NM_006949.4(STXBP2):c.1247-4C>T
NM_006949.4(STXBP2):c.1247-7C>A
NM_006949.4(STXBP2):c.1247-9G>C
NM_006949.4(STXBP2):c.1254_1257del (p.Ser418fs)
NM_006949.4(STXBP2):c.1259A>G (p.Glu420Gly)
NM_006949.4(STXBP2):c.1260G>A (p.Glu420=)
NM_006949.4(STXBP2):c.1269C>G (p.Ala423=)
NM_006949.4(STXBP2):c.1269C>T (p.Ala423=)
NM_006949.4(STXBP2):c.1273C>G (p.Leu425Val) rs766203399
NM_006949.4(STXBP2):c.1274T>C (p.Leu425Pro)
NM_006949.4(STXBP2):c.1278C>T (p.Ile426=) rs2032085173
NM_006949.4(STXBP2):c.1280A>C (p.Gln427Pro) rs2146228250
NM_006949.4(STXBP2):c.1281G>A (p.Gln427=)
NM_006949.4(STXBP2):c.1294C>T (p.Gln432Ter)
NM_006949.4(STXBP2):c.129C>G (p.Ser43=)
NM_006949.4(STXBP2):c.12G>C (p.Ser4=) rs1479557498
NM_006949.4(STXBP2):c.1316G>A (p.Arg439His) rs1415837581
NM_006949.4(STXBP2):c.1323G>A (p.Leu441=)
NM_006949.4(STXBP2):c.132C>A (p.Cys44Ter)
NM_006949.4(STXBP2):c.1330C>T (p.Leu444=) rs1283496609
NM_006949.4(STXBP2):c.1334G>T (p.Gly445Val) rs2032087931
NM_006949.4(STXBP2):c.1335A>T (p.Gly445=) rs2146228454
NM_006949.4(STXBP2):c.1339_1340insAAA (p.Gly446_Thr447insLys) rs2032088247
NM_006949.4(STXBP2):c.133T>C (p.Cys45Arg) rs2146206769
NM_006949.4(STXBP2):c.1341T>C (p.Thr447=)
NM_006949.4(STXBP2):c.1342_1346dup (p.Asn450fs)
NM_006949.4(STXBP2):c.1344C>T (p.Val448=)
NM_006949.4(STXBP2):c.134del (p.Cys45fs) rs1568463402
NM_006949.4(STXBP2):c.1353C>G (p.Pro451=)
NM_006949.4(STXBP2):c.1354G>C (p.Gly452Arg) rs148777693
NM_006949.4(STXBP2):c.1356+10G>A
NM_006949.4(STXBP2):c.1356+13C>A
NM_006949.4(STXBP2):c.1356+18A>C
NM_006949.4(STXBP2):c.1356+19T>C
NM_006949.4(STXBP2):c.1356+1G>T
NM_006949.4(STXBP2):c.1356+20G>A
NM_006949.4(STXBP2):c.1356+20G>C
NM_006949.4(STXBP2):c.1356+20G>T
NM_006949.4(STXBP2):c.1356+25del
NM_006949.4(STXBP2):c.1356+4C>A rs369000333
NM_006949.4(STXBP2):c.1357-12C>T rs761759282
NM_006949.4(STXBP2):c.1357-13G>T
NM_006949.4(STXBP2):c.1357-20C>T rs763985652
NM_006949.4(STXBP2):c.1357-4G>A
NM_006949.4(STXBP2):c.1357-4G>C rs1027722042
NM_006949.4(STXBP2):c.1357-6C>T
NM_006949.4(STXBP2):c.1357-7C>A
NM_006949.4(STXBP2):c.1363G>C (p.Gly455Arg)
NM_006949.4(STXBP2):c.1364_1377del (p.Gly455fs)
NM_006949.4(STXBP2):c.1373G>C (p.Ser458Thr)
NM_006949.4(STXBP2):c.137A>G (p.Lys46Arg) rs1358641526
NM_006949.4(STXBP2):c.1382del (p.Glu461fs)
NM_006949.4(STXBP2):c.1384C>G (p.Pro462Ala)
NM_006949.4(STXBP2):c.1386G>C (p.Pro462=)
NM_006949.4(STXBP2):c.1397T>C (p.Met466Thr)
NM_006949.4(STXBP2):c.139A>G (p.Met47Val)
NM_006949.4(STXBP2):c.1400A>G (p.Glu467Gly)
NM_006949.4(STXBP2):c.1404C>T (p.Pro468=)
NM_006949.4(STXBP2):c.1416G>C (p.Leu472=)
NM_006949.4(STXBP2):c.1427C>T (p.Thr476Ile) rs2032136227
NM_006949.4(STXBP2):c.1428C>G (p.Thr476=) rs756428439
NM_006949.4(STXBP2):c.1428C>T (p.Thr476=)
NM_006949.4(STXBP2):c.1437C>T (p.Ile479=) rs1417576091
NM_006949.4(STXBP2):c.1441G>A (p.Asp481Asn) rs995965057
NM_006949.4(STXBP2):c.1443T>A (p.Asp481Glu)
NM_006949.4(STXBP2):c.1443_1444inv (p.Val482Ile)
NM_006949.4(STXBP2):c.1444G>A (p.Val482Ile)
NM_006949.4(STXBP2):c.1450G>A (p.Glu484Lys)
NM_006949.4(STXBP2):c.1452+12C>T rs768298110
NM_006949.4(STXBP2):c.1452+13A>G
NM_006949.4(STXBP2):c.1452+18A>T
NM_006949.4(STXBP2):c.1452+19G>C
NM_006949.4(STXBP2):c.1452+1G>A
NM_006949.4(STXBP2):c.1453-10C>G
NM_006949.4(STXBP2):c.1453-12C>T
NM_006949.4(STXBP2):c.1453-14C>T
NM_006949.4(STXBP2):c.1453-15C>T
NM_006949.4(STXBP2):c.1453-19C>A
NM_006949.4(STXBP2):c.1453-19C>T
NM_006949.4(STXBP2):c.1453-7C>T
NM_006949.4(STXBP2):c.1453-8G>C rs1452988617
NM_006949.4(STXBP2):c.1453-9G>C
NM_006949.4(STXBP2):c.1453G>T (p.Asp485Tyr)
NM_006949.4(STXBP2):c.1455C>A (p.Asp485Glu) rs146425381
NM_006949.4(STXBP2):c.1458C>G (p.Ala486=)
NM_006949.4(STXBP2):c.1459G>T (p.Val487Leu) rs150174842
NM_006949.4(STXBP2):c.1464G>A (p.Glu488=)
NM_006949.4(STXBP2):c.1476C>T (p.Asp492=)
NM_006949.4(STXBP2):c.1491C>T (p.Pro497=) rs574613622
NM_006949.4(STXBP2):c.1495G>A (p.Val499Ile) rs377248327
NM_006949.4(STXBP2):c.1503C>A (p.Asp501Glu)
NM_006949.4(STXBP2):c.1507G>A (p.Ala503Thr) rs374882127
NM_006949.4(STXBP2):c.1507G>T (p.Ala503Ser) rs374882127
NM_006949.4(STXBP2):c.1508C>T (p.Ala503Val)
NM_006949.4(STXBP2):c.1512C>G (p.Pro504=)
NM_006949.4(STXBP2):c.1512C>T (p.Pro504=)
NM_006949.4(STXBP2):c.1514C>A (p.Thr505Lys)
NM_006949.4(STXBP2):c.1514C>G (p.Thr505Arg) rs375024471
NM_006949.4(STXBP2):c.1514C>T (p.Thr505Met) rs375024471
NM_006949.4(STXBP2):c.1515G>A (p.Thr505=) rs369399945
NM_006949.4(STXBP2):c.1520G>A (p.Ser507Asn)
NM_006949.4(STXBP2):c.1524C>T (p.Ser508=)
NM_006949.4(STXBP2):c.1525C>T (p.Gln509Ter) rs760061071
NM_006949.4(STXBP2):c.1526A>G (p.Gln509Arg)
NM_006949.4(STXBP2):c.1527G>A (p.Gln509=)
NM_006949.4(STXBP2):c.1530C>G (p.Ala510=) rs755717157
NM_006949.4(STXBP2):c.1531G>C (p.Ala511Pro) rs138581300
NM_006949.4(STXBP2):c.1534G>A (p.Val512Ile)
NM_006949.4(STXBP2):c.1538+10C>A
NM_006949.4(STXBP2):c.1538+10C>G rs139200597
NM_006949.4(STXBP2):c.1538+11G>A rs560026431
NM_006949.4(STXBP2):c.1538+11G>C rs560026431
NM_006949.4(STXBP2):c.1538+12G>C
NM_006949.4(STXBP2):c.1538+12G>T
NM_006949.4(STXBP2):c.1538+14G>A
NM_006949.4(STXBP2):c.1538+14del rs1430700652
NM_006949.4(STXBP2):c.1538+18C>G
NM_006949.4(STXBP2):c.1538+19C>T
NM_006949.4(STXBP2):c.1538+21_1538+26del
NM_006949.4(STXBP2):c.1538+22del
NM_006949.4(STXBP2):c.1538+6G>A
NM_006949.4(STXBP2):c.1538+7C>G
NM_006949.4(STXBP2):c.1538+7C>T
NM_006949.4(STXBP2):c.1538+9C>T
NM_006949.4(STXBP2):c.1539-11G>T
NM_006949.4(STXBP2):c.1539-14C>G rs2032178636
NM_006949.4(STXBP2):c.1539-15C>T
NM_006949.4(STXBP2):c.1539-16C>T
NM_006949.4(STXBP2):c.1539-18T>C rs2146233772
NM_006949.4(STXBP2):c.1539-20T>C rs779245767
NM_006949.4(STXBP2):c.1539-2A>G
NM_006949.4(STXBP2):c.1539-5C>T
NM_006949.4(STXBP2):c.1541C>T (p.Ala514Val)
NM_006949.4(STXBP2):c.1546T>C (p.Phe516Leu)
NM_006949.4(STXBP2):c.1549G>T (p.Gly517Cys) rs200026300
NM_006949.4(STXBP2):c.1551T>A (p.Gly517=)
NM_006949.4(STXBP2):c.1554C>T (p.His518=)
NM_006949.4(STXBP2):c.1556G>A (p.Trp519Ter)
NM_006949.4(STXBP2):c.1570G>A (p.Ala524Thr) rs2146233888
NM_006949.4(STXBP2):c.1575_1576inv (p.Ile526Val)
NM_006949.4(STXBP2):c.1576A>T (p.Ile526Leu) rs6791
NM_006949.4(STXBP2):c.1580A>G (p.Glu527Gly)
NM_006949.4(STXBP2):c.1582G>T (p.Ala528Ser) rs1171695512
NM_006949.4(STXBP2):c.1584C>T (p.Ala528=) rs530168896
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln) rs35490401
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_006949.4(STXBP2):c.1589C>T (p.Ala530Val)
NM_006949.4(STXBP2):c.1593C>T (p.Gly531=)
NM_006949.4(STXBP2):c.1596C>T (p.Pro532=)
NM_006949.4(STXBP2):c.1599G>T (p.Arg533=)
NM_006949.4(STXBP2):c.1600C>A (p.Leu534Ile)
NM_006949.4(STXBP2):c.1602C>G (p.Leu534=)
NM_006949.4(STXBP2):c.1608G>A (p.Val536=)
NM_006949.4(STXBP2):c.1610A>G (p.Tyr537Cys) rs1205069718
NM_006949.4(STXBP2):c.1611T>C (p.Tyr537=)
NM_006949.4(STXBP2):c.1612G>A (p.Val538Ile) rs2032182835
NM_006949.4(STXBP2):c.1615A>G (p.Met539Val)
NM_006949.4(STXBP2):c.1616T>C (p.Met539Thr) rs886054705
NM_006949.4(STXBP2):c.1620C>A (p.Gly540=) rs374131788
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006949.4(STXBP2):c.1621G>T (p.Gly541Cys) rs61736587
NM_006949.4(STXBP2):c.1623T>C (p.Gly541=)
NM_006949.4(STXBP2):c.1630A>G (p.Met544Val) rs1263938690
NM_006949.4(STXBP2):c.1637A>G (p.Glu546Gly)
NM_006949.4(STXBP2):c.1653C>G (p.Tyr551Ter)
NM_006949.4(STXBP2):c.1654G>C (p.Glu552Gln) rs757368965
NM_006949.4(STXBP2):c.1659G>T (p.Val553=)
NM_006949.4(STXBP2):c.1661C>T (p.Thr554Ile)
NM_006949.4(STXBP2):c.1662C>G (p.Thr554=) rs1423929519
NM_006949.4(STXBP2):c.1672G>C (p.Glu558Gln) rs758554274
NM_006949.4(STXBP2):c.1674G>A (p.Glu558=)
NM_006949.4(STXBP2):c.1674G>T (p.Glu558Asp) rs780461960
NM_006949.4(STXBP2):c.1687G>A (p.Val563Met) rs1310801774
NM_006949.4(STXBP2):c.169+10C>T rs187240521
NM_006949.4(STXBP2):c.169+11G>A
NM_006949.4(STXBP2):c.169+13_169+17dup rs1568463437
NM_006949.4(STXBP2):c.169+15C>A
NM_006949.4(STXBP2):c.169+15C>G
NM_006949.4(STXBP2):c.169+16C>T
NM_006949.4(STXBP2):c.169+18del
NM_006949.4(STXBP2):c.169+19_169+44del
NM_006949.4(STXBP2):c.169+20G>C
NM_006949.4(STXBP2):c.169+2T>G rs1555768979
NM_006949.4(STXBP2):c.1693A>G (p.Ile565Val)
NM_006949.4(STXBP2):c.1696+13G>C
NM_006949.4(STXBP2):c.1696+14A>G
NM_006949.4(STXBP2):c.1696+15C>T
NM_006949.4(STXBP2):c.1696+16T>C
NM_006949.4(STXBP2):c.1696+1G>A
NM_006949.4(STXBP2):c.1696+9C>T
NM_006949.4(STXBP2):c.1697-12G>A
NM_006949.4(STXBP2):c.1697-16C>G
NM_006949.4(STXBP2):c.1697-17C>T
NM_006949.4(STXBP2):c.1697-3C>G rs2146234615
NM_006949.4(STXBP2):c.1697-4A>T
NM_006949.4(STXBP2):c.1698C>A (p.Gly566=)
NM_006949.4(STXBP2):c.1698C>T (p.Gly566=)
NM_006949.4(STXBP2):c.16C>T (p.Leu6=)
NM_006949.4(STXBP2):c.170-11G>A
NM_006949.4(STXBP2):c.170-11G>C
NM_006949.4(STXBP2):c.170-13C>A
NM_006949.4(STXBP2):c.170-13_170-12del
NM_006949.4(STXBP2):c.170-15C>T
NM_006949.4(STXBP2):c.170-15del
NM_006949.4(STXBP2):c.170-16C>T
NM_006949.4(STXBP2):c.170-18T>C
NM_006949.4(STXBP2):c.170-4C>T rs2146207903
NM_006949.4(STXBP2):c.1700C>T (p.Ser567Phe)
NM_006949.4(STXBP2):c.1701C>G (p.Ser567=)
NM_006949.4(STXBP2):c.1710C>T (p.Ile570=)
NM_006949.4(STXBP2):c.1718C>G (p.Pro573Arg)
NM_006949.4(STXBP2):c.1719G>C (p.Pro573=)
NM_006949.4(STXBP2):c.1722C>A (p.Thr574=)
NM_006949.4(STXBP2):c.1723C>G (p.Arg575Gly) rs201481880
NM_006949.4(STXBP2):c.1724G>T (p.Arg575Leu) rs751679761
NM_006949.4(STXBP2):c.1735_1752dup (p.Asp584_Lys585insAspLeuLysAlaLeuAsp)
NM_006949.4(STXBP2):c.1745C>T (p.Ala582Val)
NM_006949.4(STXBP2):c.1746A>G (p.Ala582=)
NM_006949.4(STXBP2):c.1750G>A (p.Asp584Asn)
NM_006949.4(STXBP2):c.177A>G (p.Glu59=)
NM_006949.4(STXBP2):c.180C>T (p.Asp60=)
NM_006949.4(STXBP2):c.187_190del (p.Lys63fs) rs1217060412
NM_006949.4(STXBP2):c.202A>G (p.Ile68Val)
NM_006949.4(STXBP2):c.208A>G (p.Ser70Gly)
NM_006949.4(STXBP2):c.212_213del (p.Leu71fs) rs1555769166
NM_006949.4(STXBP2):c.219C>G (p.Ala73=)
NM_006949.4(STXBP2):c.21G>A (p.Lys7=) rs2146202594
NM_006949.4(STXBP2):c.226T>G (p.Leu76Val)
NM_006949.4(STXBP2):c.229C>T (p.Leu77=)
NM_006949.4(STXBP2):c.22G>A (p.Ala8Thr) rs1013949732
NM_006949.4(STXBP2):c.233G>T (p.Ser78Ile) rs1050758306
NM_006949.4(STXBP2):c.235C>T (p.Pro79Ser)
NM_006949.4(STXBP2):c.237C>T (p.Pro79=)
NM_006949.4(STXBP2):c.238A>T (p.Thr80Ser)
NM_006949.4(STXBP2):c.244_246del (p.Lys82del)
NM_006949.4(STXBP2):c.246+15G>A
NM_006949.4(STXBP2):c.246+16_246+19del
NM_006949.4(STXBP2):c.246+16_246+21del rs759078080
NM_006949.4(STXBP2):c.246+19G>A
NM_006949.4(STXBP2):c.246+19G>C
NM_006949.4(STXBP2):c.246+19GT[3] rs771901697
NM_006949.4(STXBP2):c.246+1G>T
NM_006949.4(STXBP2):c.246+5C>T rs369629603
NM_006949.4(STXBP2):c.246+9A>G
NM_006949.4(STXBP2):c.247-10C>T
NM_006949.4(STXBP2):c.247-18G>A
NM_006949.4(STXBP2):c.247-1G>T
NM_006949.4(STXBP2):c.247-2A>C rs921624651
NM_006949.4(STXBP2):c.247-2A>G
NM_006949.4(STXBP2):c.247-2_284del
NM_006949.4(STXBP2):c.247-4C>G
NM_006949.4(STXBP2):c.248C>T (p.Ser83Leu) rs768490233
NM_006949.4(STXBP2):c.249G>A (p.Ser83=) rs1374023769
NM_006949.4(STXBP2):c.249G>C (p.Ser83=) rs1374023769
NM_006949.4(STXBP2):c.24G>C (p.Ala8=) rs1023607092
NM_006949.4(STXBP2):c.24G>T (p.Ala8=)
NM_006949.4(STXBP2):c.255G>A (p.Gln85=)
NM_006949.4(STXBP2):c.258C>T (p.Ala86=)
NM_006949.4(STXBP2):c.261G>A (p.Leu87=)
NM_006949.4(STXBP2):c.274C>T (p.Gln92Ter)
NM_006949.4(STXBP2):c.277G>A (p.Gly93Arg) rs1428524496
NM_006949.4(STXBP2):c.279G>A (p.Gly93=)
NM_006949.4(STXBP2):c.279G>T (p.Gly93=) rs776110816
NM_006949.4(STXBP2):c.27G>A (p.Val9=) rs969393527
NM_006949.4(STXBP2):c.284del (p.Pro95fs) rs1158166238
NM_006949.4(STXBP2):c.287C>A (p.Thr96Asn) rs139280621
NM_006949.4(STXBP2):c.287C>T (p.Thr96Ile) rs139280621
NM_006949.4(STXBP2):c.291C>T (p.Phe97=)
NM_006949.4(STXBP2):c.295T>C (p.Tyr99His)
NM_006949.4(STXBP2):c.297C>G (p.Tyr99Ter)
NM_006949.4(STXBP2):c.29T>C (p.Val10Ala) rs2098942359
NM_006949.4(STXBP2):c.300A>G (p.Lys100=)
NM_006949.4(STXBP2):c.302C>T (p.Ala101Val)
NM_006949.4(STXBP2):c.30G>A (p.Val10=) rs1599386198
NM_006949.4(STXBP2):c.30G>C (p.Val10=)
NM_006949.4(STXBP2):c.30G>T (p.Val10=)
NM_006949.4(STXBP2):c.315C>T (p.Phe105=)
NM_006949.4(STXBP2):c.322G>C (p.Asp108His)
NM_006949.4(STXBP2):c.325+15C>T
NM_006949.4(STXBP2):c.325+17T>C
NM_006949.4(STXBP2):c.325+18_325+19delinsCA
NM_006949.4(STXBP2):c.325+20G>A
NM_006949.4(STXBP2):c.325+6T>C
NM_006949.4(STXBP2):c.325+7G>A
NM_006949.4(STXBP2):c.326-12G>A
NM_006949.4(STXBP2):c.326-15C>G rs1470980370
NM_006949.4(STXBP2):c.326-18A>G
NM_006949.4(STXBP2):c.326-1G>C rs2031844309
NM_006949.4(STXBP2):c.326-29C>T
NM_006949.4(STXBP2):c.326-30_326-23del
NM_006949.4(STXBP2):c.326-31G>T
NM_006949.4(STXBP2):c.336G>C (p.Glu112Asp)
NM_006949.4(STXBP2):c.340C>T (p.Leu114=)
NM_006949.4(STXBP2):c.342G>A (p.Leu114=)
NM_006949.4(STXBP2):c.342G>C (p.Leu114=)
NM_006949.4(STXBP2):c.34dup (p.Glu12fs)
NM_006949.4(STXBP2):c.355G>C (p.Gly119Arg) rs1250649701
NM_006949.4(STXBP2):c.360C>G (p.Arg120=)
NM_006949.4(STXBP2):c.360C>T (p.Arg120=) rs748808124
NM_006949.4(STXBP2):c.363T>G (p.Ser121=)
NM_006949.4(STXBP2):c.37+14C>T
NM_006949.4(STXBP2):c.37+15G>A
NM_006949.4(STXBP2):c.37+15G>C
NM_006949.4(STXBP2):c.37+17G>A
NM_006949.4(STXBP2):c.37+18G>C
NM_006949.4(STXBP2):c.37+19C>T
NM_006949.4(STXBP2):c.37+20C>A
NM_006949.4(STXBP2):c.37+20C>T
NM_006949.4(STXBP2):c.37+596_82delinsCAGCTCTGAGGCATGCCTAGCTGAGGCTATCCCACTGACCTCCGGTCTCAGTTTCCTCATCTGTAAAATGGAATCACTTTTTTCTAATCTCCCCCAATTAAAGGGGTTTGAGCTACAGACCGCCCTGCCTAGAGGAGAGAGTGGAGAGAAGTAACGGGGTGGCCCCGCCCAGCCACGTCCACTGTGTCATGTCCACTGTTATCAAGACGGCCAG
NM_006949.4(STXBP2):c.37+7G>T rs1229883838
NM_006949.4(STXBP2):c.37+9C>T
NM_006949.4(STXBP2):c.372A>G (p.Ala124=)
NM_006949.4(STXBP2):c.375G>A (p.Lys125=)
NM_006949.4(STXBP2):c.377T>C (p.Val126Ala) rs2146213993
NM_006949.4(STXBP2):c.38-20C>T rs2031666338
NM_006949.4(STXBP2):c.384G>A (p.Lys128=)
NM_006949.4(STXBP2):c.386C>T (p.Thr129Met)
NM_006949.4(STXBP2):c.388T>C (p.Leu130=)
NM_006949.4(STXBP2):c.405T>C (p.Leu135=)
NM_006949.4(STXBP2):c.408C>G (p.Ala136=)
NM_006949.4(STXBP2):c.414C>T (p.Leu138=)
NM_006949.4(STXBP2):c.416C>G (p.Pro139Arg)
NM_006949.4(STXBP2):c.419A>G (p.Tyr140Cys) rs1202493559
NM_006949.4(STXBP2):c.420C>A (p.Tyr140Ter)
NM_006949.4(STXBP2):c.426C>T (p.Ala142=) rs948303875
NM_006949.4(STXBP2):c.429+11G>A
NM_006949.4(STXBP2):c.429+11G>T
NM_006949.4(STXBP2):c.429+13C>G
NM_006949.4(STXBP2):c.429+15C>T
NM_006949.4(STXBP2):c.429+16A>G
NM_006949.4(STXBP2):c.429+1G>C
NM_006949.4(STXBP2):c.429+5G>A rs778509701
NM_006949.4(STXBP2):c.429+5G>C
NM_006949.4(STXBP2):c.429+9C>G
NM_006949.4(STXBP2):c.429+9C>T
NM_006949.4(STXBP2):c.429+9_429+16del
NM_006949.4(STXBP2):c.429+9del
NM_006949.4(STXBP2):c.430-10C>T
NM_006949.4(STXBP2):c.430-13C>G
NM_006949.4(STXBP2):c.430-14C>G
NM_006949.4(STXBP2):c.430-15C>G
NM_006949.4(STXBP2):c.430-17G>A
NM_006949.4(STXBP2):c.430-19C>T
NM_006949.4(STXBP2):c.430-7C>T
NM_006949.4(STXBP2):c.430-9C>T
NM_006949.4(STXBP2):c.435C>T (p.Phe145=)
NM_006949.4(STXBP2):c.441C>G (p.Leu147=)
NM_006949.4(STXBP2):c.442G>A (p.Asp148Asn) rs748998296
NM_006949.4(STXBP2):c.445G>A (p.Ala149Thr)
NM_006949.4(STXBP2):c.456C>T (p.Ser152=)
NM_006949.4(STXBP2):c.459C>G (p.Thr153=)
NM_006949.4(STXBP2):c.461A>G (p.Tyr154Cys) rs1360171674
NM_006949.4(STXBP2):c.462C>A (p.Tyr154Ter)
NM_006949.4(STXBP2):c.462C>T (p.Tyr154=) rs2146215800
NM_006949.4(STXBP2):c.466C>T (p.Leu156Phe) rs1269776643
NM_006949.4(STXBP2):c.468C>T (p.Leu156=)
NM_006949.4(STXBP2):c.471C>T (p.Tyr157=)
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) rs1599397070
NM_006949.4(STXBP2):c.477C>G (p.Pro159=)
NM_006949.4(STXBP2):c.47G>A (p.Ser16Asn) rs2146206110
NM_006949.4(STXBP2):c.485C>T (p.Ala162Val)
NM_006949.4(STXBP2):c.493C>T (p.Arg165Cys) rs1364548535
NM_006949.4(STXBP2):c.498G>A (p.Thr166=) rs566354422
NM_006949.4(STXBP2):c.498G>T (p.Thr166=)
NM_006949.4(STXBP2):c.500G>A (p.Arg167Gln) rs949311854
NM_006949.4(STXBP2):c.507C>A (p.Leu169=)
NM_006949.4(STXBP2):c.507C>T (p.Leu169=)
NM_006949.4(STXBP2):c.515T>C (p.Leu172Pro) rs2146216023
NM_006949.4(STXBP2):c.519C>T (p.Ala173=)
NM_006949.4(STXBP2):c.524A>G (p.Gln175Arg)
NM_006949.4(STXBP2):c.526A>G (p.Ile176Val)
NM_006949.4(STXBP2):c.534G>A (p.Thr178=)
NM_006949.4(STXBP2):c.534G>T (p.Thr178=)
NM_006949.4(STXBP2):c.537G>A (p.Leu179=)
NM_006949.4(STXBP2):c.539_540delinsAA (p.Cys180Ter) rs2146216115
NM_006949.4(STXBP2):c.540C>T (p.Cys180=)
NM_006949.4(STXBP2):c.541G>T (p.Ala181Ser) rs1338883281
NM_006949.4(STXBP2):c.542C>T (p.Ala181Val)
NM_006949.4(STXBP2):c.549G>A (p.Leu183=)
NM_006949.4(STXBP2):c.551A>G (p.Gln184Arg)
NM_006949.4(STXBP2):c.555G>A (p.Glu185=)
NM_006949.4(STXBP2):c.558C>G (p.Tyr186Ter)
NM_006949.4(STXBP2):c.560C>T (p.Pro187Leu)
NM_006949.4(STXBP2):c.567C>A (p.Ile189=)
NM_006949.4(STXBP2):c.569G>A (p.Arg190His) rs1200494574
NM_006949.4(STXBP2):c.570C>A (p.Arg190=)
NM_006949.4(STXBP2):c.573C>T (p.Tyr191=)
NM_006949.4(STXBP2):c.574C>T (p.Arg192Cys) rs571713524
NM_006949.4(STXBP2):c.578+11_578+16dup
NM_006949.4(STXBP2):c.578+16A>C
NM_006949.4(STXBP2):c.578+17G>A
NM_006949.4(STXBP2):c.578+18C>T
NM_006949.4(STXBP2):c.578+8C>T rs1473440853
NM_006949.4(STXBP2):c.578+9C>G
NM_006949.4(STXBP2):c.578A>G (p.Lys193Arg)
NM_006949.4(STXBP2):c.579-11C>T
NM_006949.4(STXBP2):c.579-12C>T
NM_006949.4(STXBP2):c.579-16C>T
NM_006949.4(STXBP2):c.579-19_579-5del rs2146216896
NM_006949.4(STXBP2):c.579-6C>T rs375979474
NM_006949.4(STXBP2):c.579-7C>T
NM_006949.4(STXBP2):c.579-8C>T
NM_006949.4(STXBP2):c.579G>T (p.Lys193Asn) rs370172171
NM_006949.4(STXBP2):c.581G>T (p.Gly194Val)
NM_006949.4(STXBP2):c.595G>A (p.Ala199Thr) rs2146217053
NM_006949.4(STXBP2):c.5C>T (p.Ala2Val) rs1599386139
NM_006949.4(STXBP2):c.612C>A (p.Ala204=) rs113033216
NM_006949.4(STXBP2):c.615C>T (p.Val205=)
NM_006949.4(STXBP2):c.618G>A (p.Leu206=)
NM_006949.4(STXBP2):c.633C>T (p.Ala211=)
NM_006949.4(STXBP2):c.635T>C (p.Phe212Ser) rs2031909131
NM_006949.4(STXBP2):c.638A>C (p.Lys213Thr) rs2146217232
NM_006949.4(STXBP2):c.646A>G (p.Thr216Ala)
NM_006949.4(STXBP2):c.651C>T (p.Pro217=) rs2146217274
NM_006949.4(STXBP2):c.657G>C (p.Leu219=)
NM_006949.4(STXBP2):c.660C>T (p.Gly220=)
NM_006949.4(STXBP2):c.661G>T (p.Glu221Ter)
NM_006949.4(STXBP2):c.663+10C>A
NM_006949.4(STXBP2):c.663+11_663+30del rs760537284
NM_006949.4(STXBP2):c.663+12T>A
NM_006949.4(STXBP2):c.663+19G>A
NM_006949.4(STXBP2):c.663+19del rs111268794
NM_006949.4(STXBP2):c.663+6G>T
NM_006949.4(STXBP2):c.663+7G>T
NM_006949.4(STXBP2):c.663+8G>A
NM_006949.4(STXBP2):c.663+8G>T
NM_006949.4(STXBP2):c.663+9G>T
NM_006949.4(STXBP2):c.664-11C>A
NM_006949.4(STXBP2):c.664-13A>C
NM_006949.4(STXBP2):c.664-13A>T rs2146217548
NM_006949.4(STXBP2):c.664-7A>G
NM_006949.4(STXBP2):c.664-8C>T
NM_006949.4(STXBP2):c.664-9C>T
NM_006949.4(STXBP2):c.66C>G (p.Val22=)
NM_006949.4(STXBP2):c.670G>A (p.Glu224Lys) rs2146217637
NM_006949.4(STXBP2):c.671A>G (p.Glu224Gly)
NM_006949.4(STXBP2):c.678C>G (p.Thr226=)
NM_006949.4(STXBP2):c.678C>T (p.Thr226=)
NM_006949.4(STXBP2):c.679C>A (p.Arg227Ser)
NM_006949.4(STXBP2):c.680G>T (p.Arg227Leu)
NM_006949.4(STXBP2):c.688C>T (p.Leu230=)
NM_006949.4(STXBP2):c.68A>G (p.Lys23Arg) rs1401766158
NM_006949.4(STXBP2):c.693G>A (p.Leu231=) rs2146217766
NM_006949.4(STXBP2):c.698T>C (p.Met233Thr) rs373830051
NM_006949.4(STXBP2):c.6G>A (p.Ala2=)
NM_006949.4(STXBP2):c.6G>T (p.Ala2=)
NM_006949.4(STXBP2):c.702C>G (p.Asp234Glu) rs2031917623
NM_006949.4(STXBP2):c.703C>G (p.Arg235Gly) rs753879238
NM_006949.4(STXBP2):c.708A>G (p.Ala236=)
NM_006949.4(STXBP2):c.708_794delinsCTGGAACGTGAGCTCATGCA (p.Ala237fs)
NM_006949.4(STXBP2):c.714C>T (p.Asp238=)
NM_006949.4(STXBP2):c.71_72del (p.Lys24fs)
NM_006949.4(STXBP2):c.723C>T (p.Ser241=)
NM_006949.4(STXBP2):c.726A>G (p.Pro242=)
NM_006949.4(STXBP2):c.730C>T (p.Leu244=)
NM_006949.4(STXBP2):c.735T>C (p.His245=)
NM_006949.4(STXBP2):c.741C>G (p.Leu247=)
NM_006949.4(STXBP2):c.741C>T (p.Leu247=)
NM_006949.4(STXBP2):c.746T>C (p.Phe249Ser)
NM_006949.4(STXBP2):c.751G>A (p.Ala251Thr) rs747657429
NM_006949.4(STXBP2):c.751G>C (p.Ala251Pro)
NM_006949.4(STXBP2):c.753C>T (p.Ala251=)
NM_006949.4(STXBP2):c.757G>T (p.Ala253Ser) rs2031920386
NM_006949.4(STXBP2):c.758C>A (p.Ala253Glu) rs140252723
NM_006949.4(STXBP2):c.761A>G (p.Tyr254Cys)
NM_006949.4(STXBP2):c.765T>G (p.Asp255Glu) rs2146217996
NM_006949.4(STXBP2):c.766CTG[1] (p.Leu257del) rs2031920971
NM_006949.4(STXBP2):c.775A>G (p.Ile259Val)
NM_006949.4(STXBP2):c.778G>A (p.Glu260Lys) rs1279733096
NM_006949.4(STXBP2):c.794+10C>T
NM_006949.4(STXBP2):c.794+17C>G
NM_006949.4(STXBP2):c.794+17C>T
NM_006949.4(STXBP2):c.794+19C>T
NM_006949.4(STXBP2):c.794+20G>C
NM_006949.4(STXBP2):c.794+3C>G rs2146218160
NM_006949.4(STXBP2):c.794+8G>A
NM_006949.4(STXBP2):c.794+9A>G
NM_006949.4(STXBP2):c.795-10T>A rs1370953207
NM_006949.4(STXBP2):c.795-10T>C
NM_006949.4(STXBP2):c.795-15C>T
NM_006949.4(STXBP2):c.795-20G>C
NM_006949.4(STXBP2):c.795-3C>T rs2031927304
NM_006949.4(STXBP2):c.795-7T>C rs1163565684
NM_006949.4(STXBP2):c.795-8C>T
NM_006949.4(STXBP2):c.7C>T (p.Pro3Ser)
NM_006949.4(STXBP2):c.803C>A (p.Thr268Asn)
NM_006949.4(STXBP2):c.804C>T (p.Thr268=)
NM_006949.4(STXBP2):c.807C>T (p.Thr269=)
NM_006949.4(STXBP2):c.808G>A (p.Gly270Arg) rs187320742
NM_006949.4(STXBP2):c.80del (p.Glu27fs)
NM_006949.4(STXBP2):c.810G>A (p.Gly270=) rs775622193
NM_006949.4(STXBP2):c.811C>T (p.Leu271=)
NM_006949.4(STXBP2):c.813G>A (p.Leu271=)
NM_006949.4(STXBP2):c.817G>C (p.Glu273Gln)
NM_006949.4(STXBP2):c.821C>T (p.Ala274Val) rs763174109
NM_006949.4(STXBP2):c.825G>A (p.Arg275=)
NM_006949.4(STXBP2):c.834C>T (p.Ala278=)
NM_006949.4(STXBP2):c.852C>T (p.Asp284=)
NM_006949.4(STXBP2):c.854A>T (p.Asp285Val)
NM_006949.4(STXBP2):c.855T>C (p.Asp285=)
NM_006949.4(STXBP2):c.858C>G (p.Asp286Glu)
NM_006949.4(STXBP2):c.859_883del (p.Leu287fs)
NM_006949.4(STXBP2):c.864G>A (p.Trp288Ter)
NM_006949.4(STXBP2):c.87+12G>A
NM_006949.4(STXBP2):c.87+15G>A
NM_006949.4(STXBP2):c.87+16A>G
NM_006949.4(STXBP2):c.87+19G>A
NM_006949.4(STXBP2):c.87+1G>A
NM_006949.4(STXBP2):c.87+20del
NM_006949.4(STXBP2):c.87+2T>C
NM_006949.4(STXBP2):c.87+3A>T rs2146206238
NM_006949.4(STXBP2):c.87+7dup
NM_006949.4(STXBP2):c.870G>A (p.Glu290=)
NM_006949.4(STXBP2):c.874C>T (p.Arg292Cys)
NM_006949.4(STXBP2):c.87G>A (p.Lys29=) rs2146206226
NM_006949.4(STXBP2):c.88-10A>G
NM_006949.4(STXBP2):c.88-12C>T rs748253705
NM_006949.4(STXBP2):c.88-17_88-6del rs781762309
NM_006949.4(STXBP2):c.88-3C>T rs2146206672
NM_006949.4(STXBP2):c.88-8C>G rs2031682268
NM_006949.4(STXBP2):c.892G>A (p.Asp298Asn)
NM_006949.4(STXBP2):c.897G>T (p.Val299=)
NM_006949.4(STXBP2):c.8C>T (p.Pro3Leu)
NM_006949.4(STXBP2):c.901_902delinsCC (p.Lys301Pro)
NM_006949.4(STXBP2):c.902+11A>C rs1033477720
NM_006949.4(STXBP2):c.902+11A>G
NM_006949.4(STXBP2):c.902+11A>T
NM_006949.4(STXBP2):c.902+13G>A
NM_006949.4(STXBP2):c.902+15G>A
NM_006949.4(STXBP2):c.902+19_902+20insATC
NM_006949.4(STXBP2):c.902+1G>A
NM_006949.4(STXBP2):c.902+7G>A
NM_006949.4(STXBP2):c.902+8C>T rs763005796
NM_006949.4(STXBP2):c.903-10T>G rs2146219745
NM_006949.4(STXBP2):c.903-11C>G
NM_006949.4(STXBP2):c.903-11C>T
NM_006949.4(STXBP2):c.903-13C>A
NM_006949.4(STXBP2):c.903-15C>T
NM_006949.4(STXBP2):c.903-16_903-15insT
NM_006949.4(STXBP2):c.903-18G>T
NM_006949.4(STXBP2):c.903-20C>G rs2146219704
NM_006949.4(STXBP2):c.903-5G>A
NM_006949.4(STXBP2):c.903-8A>G
NM_006949.4(STXBP2):c.910A>T (p.Thr304Ser)
NM_006949.4(STXBP2):c.912G>C (p.Thr304=)
NM_006949.4(STXBP2):c.921G>C (p.Leu307=)
NM_006949.4(STXBP2):c.927C>T (p.Thr309=)
NM_006949.4(STXBP2):c.934G>A (p.Glu312Lys) rs746027500
NM_006949.4(STXBP2):c.948G>A (p.Leu316=)
NM_006949.4(STXBP2):c.948G>C (p.Leu316=)
NM_006949.4(STXBP2):c.954G>C (p.Thr318=)
NM_006949.4(STXBP2):c.960+11A>C
NM_006949.4(STXBP2):c.960+13C>G
NM_006949.4(STXBP2):c.960+14C>A
NM_006949.4(STXBP2):c.960+14C>T
NM_006949.4(STXBP2):c.960+16G>A
NM_006949.4(STXBP2):c.960+1G>T
NM_006949.4(STXBP2):c.960+4G>C
NM_006949.4(STXBP2):c.960+8C>G
NM_006949.4(STXBP2):c.960+8C>T
NM_006949.4(STXBP2):c.961-13C>G
NM_006949.4(STXBP2):c.961-14C>T rs755986606
NM_006949.4(STXBP2):c.961-15C>T
NM_006949.4(STXBP2):c.961-16C>T
NM_006949.4(STXBP2):c.961-18T>C
NM_006949.4(STXBP2):c.961-4C>T
NM_006949.4(STXBP2):c.961-6C>A
NM_006949.4(STXBP2):c.961-6C>T
NM_006949.4(STXBP2):c.963G>A (p.Ala321=) rs757211999
NM_006949.4(STXBP2):c.981C>T (p.Ser327=)
NM_006949.4(STXBP2):c.982C>T (p.Gln328Ter) rs2146220482
NM_006949.4(STXBP2):c.984G>A (p.Gln328=)
NM_006949.4(STXBP2):c.987C>T (p.Ile329=) rs1599400075
NM_006949.4(STXBP2):c.996G>A (p.Lys332=)
NM_006949.4(STXBP2):c.997A>C (p.Met333Leu)
NM_012388.4(BLOC1S6):c.101C>G (p.Pro34Arg)
NM_012388.4(BLOC1S6):c.109G>C (p.Gly37Arg)
NM_012388.4(BLOC1S6):c.110G>A (p.Gly37Glu) rs1893910592
NM_012388.4(BLOC1S6):c.120G>A (p.Glu40=)
NM_012388.4(BLOC1S6):c.123C>T (p.Asp41=) rs2140904529
NM_012388.4(BLOC1S6):c.141A>G (p.Lys47=) rs2140904555
NM_012388.4(BLOC1S6):c.147G>A (p.Val49=)
NM_012388.4(BLOC1S6):c.14G>A (p.Gly5Glu) rs756977799
NM_012388.4(BLOC1S6):c.14G>T (p.Gly5Val) rs756977799
NM_012388.4(BLOC1S6):c.152A>G (p.Gln51Arg) rs1893913150
NM_012388.4(BLOC1S6):c.157G>A (p.Ala53Thr)
NM_012388.4(BLOC1S6):c.157del (p.Ala53fs)
NM_012388.4(BLOC1S6):c.171T>C (p.Leu57=)
NM_012388.4(BLOC1S6):c.174T>A (p.Ser58=) rs2140904620
NM_012388.4(BLOC1S6):c.187G>A (p.Asp63Asn) rs746059095
NM_012388.4(BLOC1S6):c.196A>G (p.Arg66Gly) rs1595552977
NM_012388.4(BLOC1S6):c.198A>G (p.Arg66=) rs1329457663
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.201A>C (p.Ser67=)
NM_012388.4(BLOC1S6):c.203_207del (p.Lys68fs)
NM_012388.4(BLOC1S6):c.205C>G (p.Gln69Glu) rs775671194
NM_012388.4(BLOC1S6):c.213C>T (p.Leu71=)
NM_012388.4(BLOC1S6):c.21G>A (p.Ser7=)
NM_012388.4(BLOC1S6):c.224+10T>C
NM_012388.4(BLOC1S6):c.224+15A>C
NM_012388.4(BLOC1S6):c.224+16dup
NM_012388.4(BLOC1S6):c.224+17C>T
NM_012388.4(BLOC1S6):c.224+18C>A rs2140904710
NM_012388.4(BLOC1S6):c.224+18C>G
NM_012388.4(BLOC1S6):c.224+20G>C
NM_012388.4(BLOC1S6):c.225-13G>A rs1010778337
NM_012388.4(BLOC1S6):c.225-14_225-13insA rs1894325968
NM_012388.4(BLOC1S6):c.225-16T>C
NM_012388.4(BLOC1S6):c.225-17G>A
NM_012388.4(BLOC1S6):c.225-19C>T
NM_012388.4(BLOC1S6):c.225-4dup
NM_012388.4(BLOC1S6):c.240A>G (p.Val80=)
NM_012388.4(BLOC1S6):c.245T>A (p.Leu82Ter)
NM_012388.4(BLOC1S6):c.249C>T (p.Asp83=)
NM_012388.4(BLOC1S6):c.253C>T (p.Leu85=)
NM_012388.4(BLOC1S6):c.255G>A (p.Leu85=)
NM_012388.4(BLOC1S6):c.257A>G (p.Glu86Gly) rs2140916217
NM_012388.4(BLOC1S6):c.25C>T (p.Pro9Ser) rs1442888203
NM_012388.4(BLOC1S6):c.261dup (p.Glu88fs)
NM_012388.4(BLOC1S6):c.269C>T (p.Ser90Leu) rs1894328541
NM_012388.4(BLOC1S6):c.286C>T (p.His96Tyr) rs1595559213
NM_012388.4(BLOC1S6):c.289T>C (p.Ser97Pro) rs1274935670
NM_012388.4(BLOC1S6):c.296T>A (p.Leu99Ter)
NM_012388.4(BLOC1S6):c.309T>C (p.Ala103=)
NM_012388.4(BLOC1S6):c.312+17T>A
NM_012388.4(BLOC1S6):c.312+1G>T
NM_012388.4(BLOC1S6):c.312+7A>G
NM_012388.4(BLOC1S6):c.313-11dup
NM_012388.4(BLOC1S6):c.313-17T>G
NM_012388.4(BLOC1S6):c.313-1G>A
NM_012388.4(BLOC1S6):c.313-3A>T rs1366252583
NM_012388.4(BLOC1S6):c.313-7T>C
NM_012388.4(BLOC1S6):c.327A>G (p.Lys109=) rs2140918976
NM_012388.4(BLOC1S6):c.330C>G (p.His110Gln) rs370118149
NM_012388.4(BLOC1S6):c.332A>G (p.Tyr111Cys)
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_012388.4(BLOC1S6):c.33G>A (p.Gly11=)
NM_012388.4(BLOC1S6):c.33_34del (p.Ala12fs)
NM_012388.4(BLOC1S6):c.343T>C (p.Leu115=) rs2140919014
NM_012388.4(BLOC1S6):c.350A>T (p.Asn117Ile) rs1230644464
NM_012388.4(BLOC1S6):c.358A>C (p.Lys120Gln) rs2140919031
NM_012388.4(BLOC1S6):c.359_360del (p.Lys120fs)
NM_012388.4(BLOC1S6):c.367C>T (p.Leu123=)
NM_012388.4(BLOC1S6):c.36C>T (p.Ala12=) rs1426071548
NM_012388.4(BLOC1S6):c.382A>C (p.Lys128Gln)
NM_012388.4(BLOC1S6):c.384A>G (p.Lys128=)
NM_012388.4(BLOC1S6):c.387A>G (p.Thr129=) rs1188577933
NM_012388.4(BLOC1S6):c.390A>G (p.Ser130=)
NM_012388.4(BLOC1S6):c.399+10A>G
NM_012388.4(BLOC1S6):c.399+13T>A
NM_012388.4(BLOC1S6):c.399+14T>G rs2140919137
NM_012388.4(BLOC1S6):c.399+18dup
NM_012388.4(BLOC1S6):c.39G>A (p.Leu13=)
NM_012388.4(BLOC1S6):c.3G>A (p.Met1Ile) rs1242644356
NM_012388.4(BLOC1S6):c.400-13T>C
NM_012388.4(BLOC1S6):c.400-16T>A
NM_012388.4(BLOC1S6):c.400-17T>A
NM_012388.4(BLOC1S6):c.400-5C>T
NM_012388.4(BLOC1S6):c.400-6A>C
NM_012388.4(BLOC1S6):c.400-6dup rs1255019451
NM_012388.4(BLOC1S6):c.400-7A>G
NM_012388.4(BLOC1S6):c.400-8del
NM_012388.4(BLOC1S6):c.400-8dup rs373061008
NM_012388.4(BLOC1S6):c.408A>G (p.Ala136=)
NM_012388.4(BLOC1S6):c.408A>T (p.Ala136=) rs765691244
NM_012388.4(BLOC1S6):c.417G>A (p.Leu139=)
NM_012388.4(BLOC1S6):c.433A>G (p.Lys145Glu) rs1894463062
NM_012388.4(BLOC1S6):c.434A>G (p.Lys145Arg) rs1894463182
NM_012388.4(BLOC1S6):c.43C>A (p.Arg15=)
NM_012388.4(BLOC1S6):c.43C>T (p.Arg15Trp) rs141581736
NM_012388.4(BLOC1S6):c.452A>T (p.Glu151Val)
NM_012388.4(BLOC1S6):c.45G>A (p.Arg15=)
NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln) rs145937442
NM_012388.4(BLOC1S6):c.468G>A (p.Lys156=)
NM_012388.4(BLOC1S6):c.469G>A (p.Glu157Lys) rs1253763397
NM_012388.4(BLOC1S6):c.491dup (p.Leu164fs) rs1350528661
NM_012388.4(BLOC1S6):c.501A>T (p.Arg167Ser) rs775510569
NM_012388.4(BLOC1S6):c.503C>T (p.Pro168Leu)
NM_012388.4(BLOC1S6):c.507C>T (p.Ala169=)
NM_012388.4(BLOC1S6):c.51C>T (p.Pro17=)
NM_012388.4(BLOC1S6):c.63G>A (p.Glu21=)
NM_012388.4(BLOC1S6):c.66C>T (p.Ala22=)
NM_012388.4(BLOC1S6):c.68G>A (p.Gly23Glu)
NM_012388.4(BLOC1S6):c.69G>C (p.Gly23=)
NM_012388.4(BLOC1S6):c.7_22dup (p.Ser8fs)
NM_012388.4(BLOC1S6):c.82+11T>C
NM_012388.4(BLOC1S6):c.82+12C>G
NM_012388.4(BLOC1S6):c.82+14G>T
NM_012388.4(BLOC1S6):c.82+17G>A
NM_012388.4(BLOC1S6):c.82+1G>A
NM_012388.4(BLOC1S6):c.82+1G>T
NM_012388.4(BLOC1S6):c.82+1_82+8del
NM_012388.4(BLOC1S6):c.82+4C>G
NM_012388.4(BLOC1S6):c.82+9_82+12del
NM_012388.4(BLOC1S6):c.82G>C (p.Gly28Arg)
NM_012388.4(BLOC1S6):c.88A>C (p.Ser30Arg)
NM_012388.4(BLOC1S6):c.88del (p.Ser30fs)
NM_012388.4(BLOC1S6):c.89del (p.Ser30fs)
NM_018344.6(SLC29A3):c.1+13C>T
NM_018344.6(SLC29A3):c.1+14G>C
NM_018344.6(SLC29A3):c.1+1G>C
NM_018344.6(SLC29A3):c.1+2T>G
NM_018344.6(SLC29A3):c.1+8C>T
NM_018344.6(SLC29A3):c.1004A>G (p.Lys335Arg)
NM_018344.6(SLC29A3):c.1005G>A (p.Lys335=)
NM_018344.6(SLC29A3):c.1017A>G (p.Ser339=) rs1847078623
NM_018344.6(SLC29A3):c.101_104dup (p.Leu36fs) rs2131796660
NM_018344.6(SLC29A3):c.1028C>G (p.Thr343Ser) rs1427868949
NM_018344.6(SLC29A3):c.1028C>T (p.Thr343Ile)
NM_018344.6(SLC29A3):c.1041C>T (p.Ile347=)
NM_018344.6(SLC29A3):c.1043C>T (p.Pro348Leu)
NM_018344.6(SLC29A3):c.1045del (p.Leu349fs) rs869025176
NM_018344.6(SLC29A3):c.1061T>C (p.Leu354Pro) rs1564543328
NM_018344.6(SLC29A3):c.1068C>T (p.Asn356=) rs2131851729
NM_018344.6(SLC29A3):c.1077_1084del (p.Asp359fs)
NM_018344.6(SLC29A3):c.1078C>T (p.Leu360=) rs2131851749
NM_018344.6(SLC29A3):c.1118G>A (p.Gly373Glu)
NM_018344.6(SLC29A3):c.111C>A (p.Asp37Glu) rs773183035
NM_018344.6(SLC29A3):c.1121C>T (p.Pro374Leu) rs1847082074
NM_018344.6(SLC29A3):c.1122C>T (p.Pro374=) rs1391816956
NM_018344.6(SLC29A3):c.1125T>C (p.Asn375=)
NM_018344.6(SLC29A3):c.1132G>A (p.Ala378Thr)
NM_018344.6(SLC29A3):c.1135C>G (p.Leu379Val) rs762572378
NM_018344.6(SLC29A3):c.1135C>T (p.Leu379Phe) rs762572378
NM_018344.6(SLC29A3):c.1142G>A (p.Gly381Glu)
NM_018344.6(SLC29A3):c.1142G>C (p.Gly381Ala) rs1835368591
NM_018344.6(SLC29A3):c.1147G>A (p.Val383Met) rs200001297
NM_018344.6(SLC29A3):c.1147G>C (p.Val383Leu) rs200001297
NM_018344.6(SLC29A3):c.1172C>A (p.Pro391His)
NM_018344.6(SLC29A3):c.1173C>G (p.Pro391=)
NM_018344.6(SLC29A3):c.1174C>G (p.Leu392Val) rs748622163
NM_018344.6(SLC29A3):c.1175T>C (p.Leu392Pro)
NM_018344.6(SLC29A3):c.1179C>T (p.Phe393=)
NM_018344.6(SLC29A3):c.117G>T (p.Pro39=)
NM_018344.6(SLC29A3):c.1182G>C (p.Val394=)
NM_018344.6(SLC29A3):c.1185C>G (p.Leu395=)
NM_018344.6(SLC29A3):c.1194C>T (p.Tyr398=)
NM_018344.6(SLC29A3):c.1209C>T (p.His403=)
NM_018344.6(SLC29A3):c.122del (p.Pro41fs) rs749946303
NM_018344.6(SLC29A3):c.1230G>A (p.Gln410=)
NM_018344.6(SLC29A3):c.1234G>A (p.Asp412Asn)
NM_018344.6(SLC29A3):c.1237G>A (p.Val413Met)
NM_018344.6(SLC29A3):c.1242C>T (p.Tyr414=)
NM_018344.6(SLC29A3):c.1245C>T (p.Pro415=)
NM_018344.6(SLC29A3):c.1246G>A (p.Ala416Thr)
NM_018344.6(SLC29A3):c.1246G>T (p.Ala416Ser)
NM_018344.6(SLC29A3):c.1269G>A (p.Gly423=) rs2131852171
NM_018344.6(SLC29A3):c.1283A>G (p.Tyr428Cys)
NM_018344.6(SLC29A3):c.1287C>T (p.Leu429=)
NM_018344.6(SLC29A3):c.128T>C (p.Leu43Pro)
NM_018344.6(SLC29A3):c.1292C>T (p.Thr431Ile) rs758061099
NM_018344.6(SLC29A3):c.1294del (p.Leu432fs)
NM_018344.6(SLC29A3):c.1295del (p.Leu432fs)
NM_018344.6(SLC29A3):c.1323G>A (p.Val441=)
NM_018344.6(SLC29A3):c.1326C>T (p.Pro442=) rs759673817
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) rs267607056
NM_018344.6(SLC29A3):c.1330_1331delinsAT (p.Glu444Met)
NM_018344.6(SLC29A3):c.1342G>A (p.Ala448Thr)
NM_018344.6(SLC29A3):c.1344C>G (p.Ala448=)
NM_018344.6(SLC29A3):c.1350_1354del (p.Val451fs)
NM_018344.6(SLC29A3):c.1359G>A (p.Met453Ile)
NM_018344.6(SLC29A3):c.135G>T (p.Arg45Ser)
NM_018344.6(SLC29A3):c.1368T>G (p.Tyr456Ter) rs2131852395
NM_018344.6(SLC29A3):c.1369G>A (p.Val457Met)
NM_018344.6(SLC29A3):c.1375T>C (p.Leu459=)
NM_018344.6(SLC29A3):c.1380C>T (p.Gly460=) rs1589244911
NM_018344.6(SLC29A3):c.1383A>G (p.Leu461=)
NM_018344.6(SLC29A3):c.1389G>A (p.Leu463=)
NM_018344.6(SLC29A3):c.138C>G (p.Pro46=)
NM_018344.6(SLC29A3):c.1392C>T (p.Gly464=)
NM_018344.6(SLC29A3):c.1397C>G (p.Ala466Gly)
NM_018344.6(SLC29A3):c.139G>T (p.Glu47Ter) rs377762611
NM_018344.6(SLC29A3):c.1406C>G (p.Thr469Ser)
NM_018344.6(SLC29A3):c.1406C>T (p.Thr469Ile) rs748043094
NM_018344.6(SLC29A3):c.1413G>A (p.Leu471=)
NM_018344.6(SLC29A3):c.1419C>T (p.His473=) rs372551556
NM_018344.6(SLC29A3):c.1424T>C (p.Ile475Thr) rs1564543743
NM_018344.6(SLC29A3):c.1427A>G (p.Ter476Trp) rs2131852506
NM_018344.6(SLC29A3):c.145C>T (p.Arg49Cys) rs199619817
NM_018344.6(SLC29A3):c.146G>A (p.Arg49His)
NM_018344.6(SLC29A3):c.159A>G (p.Thr53=) rs150354424
NM_018344.6(SLC29A3):c.159A>T (p.Thr53=) rs150354424
NM_018344.6(SLC29A3):c.163A>C (p.Ile55Leu) rs774173242
NM_018344.6(SLC29A3):c.163A>G (p.Ile55Val)
NM_018344.6(SLC29A3):c.177C>T (p.Ser59=) rs760763432
NM_018344.6(SLC29A3):c.182G>A (p.Gly61Asp) rs2131796885
NM_018344.6(SLC29A3):c.185T>C (p.Ile62Thr)
NM_018344.6(SLC29A3):c.192T>C (p.Ser64=)
NM_018344.6(SLC29A3):c.198G>T (p.Leu66=)
NM_018344.6(SLC29A3):c.2-12T>C rs2131796408
NM_018344.6(SLC29A3):c.2-6C>T rs1845876677
NM_018344.6(SLC29A3):c.2-9C>G
NM_018344.6(SLC29A3):c.201A>G (p.Pro67=)
NM_018344.6(SLC29A3):c.207CTT[1] (p.Phe71del) rs766108072
NM_018344.6(SLC29A3):c.21C>A (p.Asp7Glu) rs746298917
NM_018344.6(SLC29A3):c.21C>T (p.Asp7=) rs746298917
NM_018344.6(SLC29A3):c.225G>A (p.Lys75=) rs543016261
NM_018344.6(SLC29A3):c.225G>C (p.Lys75Asn)
NM_018344.6(SLC29A3):c.230A>G (p.Tyr77Cys)
NM_018344.6(SLC29A3):c.231C>T (p.Tyr77=)
NM_018344.6(SLC29A3):c.260G>A (p.Ser87Asn)
NM_018344.6(SLC29A3):c.269_275del (p.Thr90fs) rs1223982382
NM_018344.6(SLC29A3):c.273G>C (p.Gly91=)
NM_018344.6(SLC29A3):c.273_277dup (p.Asp93fs)
NM_018344.6(SLC29A3):c.290C>T (p.Ser97Leu) rs1055285740
NM_018344.6(SLC29A3):c.292G>A (p.Asp98Asn) rs2131797127
NM_018344.6(SLC29A3):c.297C>G (p.Ile99Met)
NM_018344.6(SLC29A3):c.300+11G>A
NM_018344.6(SLC29A3):c.300+14T>A
NM_018344.6(SLC29A3):c.300+2T>C rs2131797156
NM_018344.6(SLC29A3):c.300+5G>A rs1845890496
NM_018344.6(SLC29A3):c.300G>C (p.Leu100=)
NM_018344.6(SLC29A3):c.301-10G>A
NM_018344.6(SLC29A3):c.301-11T>G rs2131827560
NM_018344.6(SLC29A3):c.301-15C>T
NM_018344.6(SLC29A3):c.301-16A>C
NM_018344.6(SLC29A3):c.301-2A>G
NM_018344.6(SLC29A3):c.301-6T>C rs571102657
NM_018344.6(SLC29A3):c.303_320dup (p.Tyr102_Leu107dup) rs1846497179
NM_018344.6(SLC29A3):c.311A>C (p.Glu104Ala)
NM_018344.6(SLC29A3):c.313A>C (p.Ser105Arg) rs2131827630
NM_018344.6(SLC29A3):c.319C>T (p.Leu107Phe) rs1046929974
NM_018344.6(SLC29A3):c.31C>G (p.His11Asp) rs2131796486
NM_018344.6(SLC29A3):c.31C>T (p.His11Tyr)
NM_018344.6(SLC29A3):c.330C>G (p.Ala110=)
NM_018344.6(SLC29A3):c.330C>T (p.Ala110=)
NM_018344.6(SLC29A3):c.336C>T (p.Thr112=)
NM_018344.6(SLC29A3):c.339G>A (p.Val113=) rs1476419275
NM_018344.6(SLC29A3):c.342C>T (p.Pro114=)
NM_018344.6(SLC29A3):c.344C>G (p.Ser115Cys)
NM_018344.6(SLC29A3):c.346A>G (p.Met116Val) rs749453197
NM_018344.6(SLC29A3):c.358G>T (p.Val120Leu)
NM_018344.6(SLC29A3):c.362C>T (p.Ala121Val)
NM_018344.6(SLC29A3):c.366C>A (p.Asn122Lys) rs1327430777
NM_018344.6(SLC29A3):c.369C>T (p.Phe123=)
NM_018344.6(SLC29A3):c.372G>A (p.Leu124=)
NM_018344.6(SLC29A3):c.372G>T (p.Leu124=)
NM_018344.6(SLC29A3):c.374T>A (p.Leu125His) rs1846502655
NM_018344.6(SLC29A3):c.379A>G (p.Asn127Asp) rs761243929
NM_018344.6(SLC29A3):c.381C>T (p.Asn127=)
NM_018344.6(SLC29A3):c.382_383del (p.Arg128fs)
NM_018344.6(SLC29A3):c.383+11C>G
NM_018344.6(SLC29A3):c.383+5G>A rs1846503811
NM_018344.6(SLC29A3):c.383+7_383+8delinsAG rs1589232669
NM_018344.6(SLC29A3):c.384-15G>T
NM_018344.6(SLC29A3):c.384-18C>G rs2131838837
NM_018344.6(SLC29A3):c.384-7G>A
NM_018344.6(SLC29A3):c.384-8C>T
NM_018344.6(SLC29A3):c.396C>T (p.His132=)
NM_018344.6(SLC29A3):c.397A>G (p.Ile133Val) rs2131838911
NM_018344.6(SLC29A3):c.403G>C (p.Val135Leu)
NM_018344.6(SLC29A3):c.40A>G (p.Asn14Asp) rs541461094
NM_018344.6(SLC29A3):c.414A>G (p.Ser138=) rs769835923
NM_018344.6(SLC29A3):c.422T>G (p.Val141Gly)
NM_018344.6(SLC29A3):c.424A>G (p.Ile142Val) rs1589237723
NM_018344.6(SLC29A3):c.432C>T (p.Ala144=)
NM_018344.6(SLC29A3):c.443T>G (p.Val148Gly)
NM_018344.6(SLC29A3):c.443del (p.Val148fs) rs2131839011
NM_018344.6(SLC29A3):c.453A>G (p.Ala151=)
NM_018344.6(SLC29A3):c.474C>G (p.Ser158=)
NM_018344.6(SLC29A3):c.474C>T (p.Ser158=) rs769083926
NM_018344.6(SLC29A3):c.477C>T (p.Ser159=)
NM_018344.6(SLC29A3):c.479G>A (p.Trp160Ter) rs776960135
NM_018344.6(SLC29A3):c.485G>A (p.Arg162His)
NM_018344.6(SLC29A3):c.498G>A (p.Ala166=)
NM_018344.6(SLC29A3):c.498G>C (p.Ala166=) rs150879861
NM_018344.6(SLC29A3):c.510C>G (p.Val170=)
NM_018344.6(SLC29A3):c.510C>T (p.Val170=)
NM_018344.6(SLC29A3):c.516G>A (p.Met172Ile) rs1554817114
NM_018344.6(SLC29A3):c.517G>A (p.Val173Met) rs752487563
NM_018344.6(SLC29A3):c.517G>T (p.Val173Leu)
NM_018344.6(SLC29A3):c.517_519del (p.Val173del)
NM_018344.6(SLC29A3):c.51_52inv (p.Arg18Gly)
NM_018344.6(SLC29A3):c.525C>T (p.Leu175=)
NM_018344.6(SLC29A3):c.526A>C (p.Ser176Arg)
NM_018344.6(SLC29A3):c.528C>T (p.Ser176=)
NM_018344.6(SLC29A3):c.531T>C (p.Gly177=)
NM_018344.6(SLC29A3):c.549C>T (p.Ser183=) rs2131839283
NM_018344.6(SLC29A3):c.550_551delinsCC (p.Ser184Pro) rs2131839287
NM_018344.6(SLC29A3):c.552C>T (p.Ser184=)
NM_018344.6(SLC29A3):c.564C>T (p.Gly188=) rs2131839320
NM_018344.6(SLC29A3):c.57C>G (p.Thr19=)
NM_018344.6(SLC29A3):c.583A>G (p.Met195Val) rs748749123
NM_018344.6(SLC29A3):c.583A>T (p.Met195Leu)
NM_018344.6(SLC29A3):c.586A>C (p.Arg196=)
NM_018344.6(SLC29A3):c.586A>G (p.Arg196Gly) rs771684605
NM_018344.6(SLC29A3):c.59_60dup (p.Ser21fs)
NM_018344.6(SLC29A3):c.5C>T (p.Ala2Val) rs1845876868
NM_018344.6(SLC29A3):c.604A>G (p.Ile202Val)
NM_018344.6(SLC29A3):c.605T>C (p.Ile202Thr) rs1846771482
NM_018344.6(SLC29A3):c.610+10A>G
NM_018344.6(SLC29A3):c.610+12G>A
NM_018344.6(SLC29A3):c.610+13G>A
NM_018344.6(SLC29A3):c.610+17G>A
NM_018344.6(SLC29A3):c.610+17G>C
NM_018344.6(SLC29A3):c.610+18G>C
NM_018344.6(SLC29A3):c.610+6A>G rs1404531907
NM_018344.6(SLC29A3):c.611-11G>A
NM_018344.6(SLC29A3):c.611-14T>C
NM_018344.6(SLC29A3):c.611-19T>G
NM_018344.6(SLC29A3):c.611-8C>G rs758975664
NM_018344.6(SLC29A3):c.617C>T (p.Ala206Val) rs779297305
NM_018344.6(SLC29A3):c.619A>G (p.Met207Val)
NM_018344.6(SLC29A3):c.621G>C (p.Met207Ile) rs2131844237
NM_018344.6(SLC29A3):c.626G>A (p.Gly209Glu)
NM_018344.6(SLC29A3):c.650T>C (p.Leu217Ser) rs1846900381
NM_018344.6(SLC29A3):c.659T>G (p.Leu220Trp)
NM_018344.6(SLC29A3):c.676G>T (p.Val226Leu) rs750920341
NM_018344.6(SLC29A3):c.678G>A (p.Val226=)
NM_018344.6(SLC29A3):c.679A>G (p.Arg227Gly)
NM_018344.6(SLC29A3):c.67_70del (p.Leu24fs)
NM_018344.6(SLC29A3):c.684C>G (p.Asn228Lys)
NM_018344.6(SLC29A3):c.696C>G (p.Ala232=) rs2131844391
NM_018344.6(SLC29A3):c.6C>T (p.Ala2=)
NM_018344.6(SLC29A3):c.711C>T (p.Ala237=)
NM_018344.6(SLC29A3):c.713_715del (p.Thr238_Val239delinsIle) rs1846903353
NM_018344.6(SLC29A3):c.714T>G (p.Thr238=)
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
NM_018344.6(SLC29A3):c.719T>G (p.Phe240Cys) rs1589240617
NM_018344.6(SLC29A3):c.724G>A (p.Val242Met)
NM_018344.6(SLC29A3):c.728T>C (p.Leu243Pro)
NM_018344.6(SLC29A3):c.739C>T (p.Leu247Phe)
NM_018344.6(SLC29A3):c.743A>G (p.Tyr248Cys) rs1183935684
NM_018344.6(SLC29A3):c.749T>C (p.Leu250Pro)
NM_018344.6(SLC29A3):c.751C>T (p.Leu251=) rs1249645317
NM_018344.6(SLC29A3):c.753G>C (p.Leu251=)
NM_018344.6(SLC29A3):c.770C>G (p.Ala257Gly) rs148164425
NM_018344.6(SLC29A3):c.773+13C>T
NM_018344.6(SLC29A3):c.773+18del
NM_018344.6(SLC29A3):c.774-10C>G rs1312997063
NM_018344.6(SLC29A3):c.774-20G>T
NM_018344.6(SLC29A3):c.774G>C (p.Arg258Ser)
NM_018344.6(SLC29A3):c.777C>A (p.Tyr259Ter)
NM_018344.6(SLC29A3):c.799G>A (p.Ala267Thr) rs1847066506
NM_018344.6(SLC29A3):c.800C>A (p.Ala267Asp) rs757102651
NM_018344.6(SLC29A3):c.802C>T (p.His268Tyr)
NM_018344.6(SLC29A3):c.80A>T (p.Asp27Val) rs1002400369
NM_018344.6(SLC29A3):c.815G>A (p.Gly272Asp)
NM_018344.6(SLC29A3):c.821A>G (p.Glu274Gly) rs1847067185
NM_018344.6(SLC29A3):c.823G>A (p.Glu275Lys)
NM_018344.6(SLC29A3):c.837C>T (p.Asp279=)
NM_018344.6(SLC29A3):c.839C>G (p.Ser280Cys)
NM_018344.6(SLC29A3):c.859G>A (p.Ala287Thr)
NM_018344.6(SLC29A3):c.874G>C (p.Asp292His) rs1847070217
NM_018344.6(SLC29A3):c.889C>T (p.Pro297Ser) rs150719927
NM_018344.6(SLC29A3):c.890C>T (p.Pro297Leu) rs779969612
NM_018344.6(SLC29A3):c.894C>G (p.Leu298=) rs748117635
NM_018344.6(SLC29A3):c.894C>T (p.Leu298=)
NM_018344.6(SLC29A3):c.897C>T (p.Arg299=)
NM_018344.6(SLC29A3):c.898C>T (p.Pro300Ser)
NM_018344.6(SLC29A3):c.903C>T (p.Ile301=) rs2131851352
NM_018344.6(SLC29A3):c.908AGA[1] (p.Lys304del)
NM_018344.6(SLC29A3):c.914_915delinsTC (p.Thr305Ile) rs1589244189
NM_018344.6(SLC29A3):c.915G>A (p.Thr305=)
NM_018344.6(SLC29A3):c.919dup (p.Ser307fs)
NM_018344.6(SLC29A3):c.921C>T (p.Ser307=)
NM_018344.6(SLC29A3):c.925G>C (p.Gly309Arg)
NM_018344.6(SLC29A3):c.926G>T (p.Gly309Val) rs2131851398
NM_018344.6(SLC29A3):c.927C>T (p.Gly309=)
NM_018344.6(SLC29A3):c.939C>G (p.Thr313=) rs367679598
NM_018344.6(SLC29A3):c.939C>T (p.Thr313=)
NM_018344.6(SLC29A3):c.942C>T (p.Tyr314=)
NM_018344.6(SLC29A3):c.946TTC[1] (p.Phe317del)
NM_018344.6(SLC29A3):c.963del (p.Ile322fs) rs2131851477
NM_018344.6(SLC29A3):c.964A>T (p.Ile322Phe) rs1260766977
NM_018344.6(SLC29A3):c.967T>C (p.Tyr323His)
NM_018344.6(SLC29A3):c.970C>T (p.Pro324Ser) rs2131851495
NM_018344.6(SLC29A3):c.972C>A (p.Pro324=)
NM_018344.6(SLC29A3):c.984del (p.Asn329fs) rs1415833135
NM_018344.6(SLC29A3):c.986A>G (p.Asn329Ser) rs1554818046
NM_018344.6(SLC29A3):c.988A>G (p.Ile330Val)
NM_018344.6(SLC29A3):c.990C>A (p.Ile330=)
NM_018344.6(SLC29A3):c.990C>T (p.Ile330=)
NM_032638.5(GATA2):c.1003C>T (p.Pro335Ser)
NM_032638.5(GATA2):c.1006A>G (p.Lys336Glu) rs2068661125
NM_032638.5(GATA2):c.1007A>T (p.Lys336Met)
NM_032638.5(GATA2):c.1008G>A (p.Lys336=) rs2107670314
NM_032638.5(GATA2):c.1009C>A (p.Arg337=)
NM_032638.5(GATA2):c.1009C>G (p.Arg337Gly) rs387906632
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_032638.5(GATA2):c.100A>G (p.Met34Val) rs762794939
NM_032638.5(GATA2):c.1010G>A (p.Arg337Gln) rs2068661017
NM_032638.5(GATA2):c.1015C>T (p.Leu339=) rs2107670306
NM_032638.5(GATA2):c.1016T>C (p.Leu339Pro)
NM_032638.5(GATA2):c.1017+11G>A
NM_032638.5(GATA2):c.1017+20G>T rs758953146
NM_032638.5(GATA2):c.1017+477G>C
NM_032638.5(GATA2):c.1017+480A>G
NM_032638.5(GATA2):c.1017+484T>A
NM_032638.5(GATA2):c.1017+484T>C
NM_032638.5(GATA2):c.1017+486A>T
NM_032638.5(GATA2):c.1017+491del rs564944614
NM_032638.5(GATA2):c.1017+491dup
NM_032638.5(GATA2):c.1017+500C>T
NM_032638.5(GATA2):c.1017+506T>A
NM_032638.5(GATA2):c.1017+508C>T
NM_032638.5(GATA2):c.1017+512C>A rs890419135
NM_032638.5(GATA2):c.1017+512C>G rs890419135
NM_032638.5(GATA2):c.1017+513G>T rs948289045
NM_032638.5(GATA2):c.1017+516G>T
NM_032638.5(GATA2):c.1017+517T>G
NM_032638.5(GATA2):c.1017+518T>G rs1576746428
NM_032638.5(GATA2):c.1017+520C>T
NM_032638.5(GATA2):c.1017+523A>G
NM_032638.5(GATA2):c.1017+525C>A rs916833024
NM_032638.5(GATA2):c.1017+525C>T rs916833024
NM_032638.5(GATA2):c.1017+526C>A rs1051590739
NM_032638.5(GATA2):c.1017+526C>T rs1051590739
NM_032638.5(GATA2):c.1017+527G>A rs1559985804
NM_032638.5(GATA2):c.1017+532T>A rs2107669881
NM_032638.5(GATA2):c.1017+533C>T rs2107669877
NM_032638.5(GATA2):c.1017+534T>G
NM_032638.5(GATA2):c.1017+535G>T
NM_032638.5(GATA2):c.1017+536C>G rs2068654194
NM_032638.5(GATA2):c.1017+536C>T rs2068654194
NM_032638.5(GATA2):c.1017+537A>G rs2107669873
NM_032638.5(GATA2):c.1017+538G>T rs2107669871
NM_032638.5(GATA2):c.1017+540C>G rs2107669867
NM_032638.5(GATA2):c.1017+544A>G
NM_032638.5(GATA2):c.1017+556T>G
NM_032638.5(GATA2):c.1017+557T>C
NM_032638.5(GATA2):c.1017+558C>T
NM_032638.5(GATA2):c.1017+559G>A
NM_032638.5(GATA2):c.1017+560T>G
NM_032638.5(GATA2):c.1017+564T>C
NM_032638.5(GATA2):c.1017+565_1017+566del
NM_032638.5(GATA2):c.1017+571C>T
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032638.5(GATA2):c.1017+573G>C
NM_032638.5(GATA2):c.1017+579T>G
NM_032638.5(GATA2):c.1017+581C>T
NM_032638.5(GATA2):c.1017+582G>A
NM_032638.5(GATA2):c.1017+582G>T rs1296477757
NM_032638.5(GATA2):c.1017+584G>T
NM_032638.5(GATA2):c.1017+590dup
NM_032638.5(GATA2):c.1017+592A>G rs2107669840
NM_032638.5(GATA2):c.1017+593G>A
NM_032638.5(GATA2):c.1017+596T>C
NM_032638.5(GATA2):c.1017+598_1017+600del
NM_032638.5(GATA2):c.1017+612G>A
NM_032638.5(GATA2):c.1017+615T>G
NM_032638.5(GATA2):c.1017+616C>A
NM_032638.5(GATA2):c.1017+616C>G
NM_032638.5(GATA2):c.1017+616C>T
NM_032638.5(GATA2):c.1017+618C>T
NM_032638.5(GATA2):c.1017+620C>A
NM_032638.5(GATA2):c.1017+621T>C
NM_032638.5(GATA2):c.1017+622G>A
NM_032638.5(GATA2):c.1017+626T>C
NM_032638.5(GATA2):c.1017+641A>C
NM_032638.5(GATA2):c.1017+644A>G
NM_032638.5(GATA2):c.1017+646C>T
NM_032638.5(GATA2):c.1017+657C>T
NM_032638.5(GATA2):c.1017+662A>G
NM_032638.5(GATA2):c.1017+663A>T
NM_032638.5(GATA2):c.1017+666C>A
NM_032638.5(GATA2):c.1017+666C>T
NM_032638.5(GATA2):c.1017+667_1017+675del
NM_032638.5(GATA2):c.1017+669A>C
NM_032638.5(GATA2):c.1017+679G>T
NM_032638.5(GATA2):c.1017+688A>G
NM_032638.5(GATA2):c.1017+691T>C
NM_032638.5(GATA2):c.1017+693dup rs1255750954
NM_032638.5(GATA2):c.1017+704C>A rs980111298
NM_032638.5(GATA2):c.1017+704C>T rs980111298
NM_032638.5(GATA2):c.1017+705G>A
NM_032638.5(GATA2):c.1017+8C>G
NM_032638.5(GATA2):c.1017+9G>C rs753634658
NM_032638.5(GATA2):c.1018-11T>C
NM_032638.5(GATA2):c.1018-12T>C
NM_032638.5(GATA2):c.1018-18G>A
NM_032638.5(GATA2):c.1018-18G>T rs779303676
NM_032638.5(GATA2):c.1018-19C>A rs11708606
NM_032638.5(GATA2):c.1018-1G>T rs869320668
NM_032638.5(GATA2):c.1018-2A>G rs1576745322
NM_032638.5(GATA2):c.1018-5C>A rs769196688
NM_032638.5(GATA2):c.1018-6_1018-3dup rs1576745326
NM_032638.5(GATA2):c.1018-7C>T
NM_032638.5(GATA2):c.1019C>A (p.Ser340Ter) rs745439347
NM_032638.5(GATA2):c.1019C>G (p.Ser340Trp)
NM_032638.5(GATA2):c.1019_1023delinsGCCTT (p.Ser340_Ala341delinsCysLeu) rs1553770524
NM_032638.5(GATA2):c.101T>C (p.Met34Thr) rs1576749857
NM_032638.5(GATA2):c.1020G>T (p.Ser340=) rs370166358
NM_032638.5(GATA2):c.1021G>T (p.Ala341Ser) rs2068635788
NM_032638.5(GATA2):c.1021GCC[3] (p.Ala342dup) rs2068635493
NM_032638.5(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_032638.5(GATA2):c.1022_1027dup (p.Ala342_Arg343insThrAla)
NM_032638.5(GATA2):c.1023C>A (p.Ala341=) rs376360090
NM_032638.5(GATA2):c.1023C>G (p.Ala341=)
NM_032638.5(GATA2):c.1023_1038dup (p.Thr347fs) rs1576745270
NM_032638.5(GATA2):c.1024G>T (p.Ala342Ser) rs751285156
NM_032638.5(GATA2):c.1024_1092dup (p.Ala364_Asn365insAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAla)
NM_032638.5(GATA2):c.1024dup (p.Ala342fs) rs2068635607
NM_032638.5(GATA2):c.1026C>T (p.Ala342=)
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
NM_032638.5(GATA2):c.1027_1041del (p.Arg343_Thr347del)
NM_032638.5(GATA2):c.1030A>G (p.Arg344Gly)
NM_032638.5(GATA2):c.1031_1087dup (p.Arg362_Asn363insArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArg)
NM_032638.5(GATA2):c.1032A>G (p.Arg344=) rs2068635192
NM_032638.5(GATA2):c.1034C>A (p.Ala345Asp) rs2107668791
NM_032638.5(GATA2):c.1035C>G (p.Ala345=) rs371599112
NM_032638.5(GATA2):c.1035C>T (p.Ala345=) rs371599112
NM_032638.5(GATA2):c.1036G>A (p.Gly346Ser) rs1559985135
NM_032638.5(GATA2):c.1036G>C (p.Gly346Arg)
NM_032638.5(GATA2):c.1037G>C (p.Gly346Ala)
NM_032638.5(GATA2):c.1038dup (p.Thr347fs)
NM_032638.5(GATA2):c.1040C>T (p.Thr347Ile) rs2107668761
NM_032638.5(GATA2):c.1040_1041delinsAT (p.Thr347Asn) rs2068635002
NM_032638.5(GATA2):c.1041C>A (p.Thr347=) rs1410526674
NM_032638.5(GATA2):c.1041C>G (p.Thr347=)
NM_032638.5(GATA2):c.1041C>T (p.Thr347=) rs1410526674
NM_032638.5(GATA2):c.1042_1092dup (p.Cys348_Ala364dup) rs2068633920
NM_032638.5(GATA2):c.1050A>G (p.Ala350=) rs2068634882
NM_032638.5(GATA2):c.105A>G (p.Glu35=)
NM_032638.5(GATA2):c.105A>T (p.Glu35Asp) rs2107673579
NM_032638.5(GATA2):c.1060A>G (p.Thr354Ala)
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.5(GATA2):c.1062G>C (p.Thr354=) rs759487569
NM_032638.5(GATA2):c.1062G>T (p.Thr354=) rs759487569
NM_032638.5(GATA2):c.1064C>A (p.Thr355Lys) rs1060500085
NM_032638.5(GATA2):c.1066A>G (p.Thr356Ala) rs2107668715
NM_032638.5(GATA2):c.1067C>T (p.Thr356Ile) rs1468788950
NM_032638.5(GATA2):c.1069A>G (p.Thr357Ala) rs2107668704
NM_032638.5(GATA2):c.1070C>T (p.Thr357Ile) rs2107668699
NM_032638.5(GATA2):c.1071C>A (p.Thr357=) rs1262693306
NM_032638.5(GATA2):c.1071C>G (p.Thr357=) rs1262693306
NM_032638.5(GATA2):c.1074C>T (p.Thr358=) rs2068634357
NM_032638.5(GATA2):c.1075T>G (p.Leu359Val) rs1060500091
NM_032638.5(GATA2):c.1077A>G (p.Leu359=)
NM_032638.5(GATA2):c.1077A>T (p.Leu359Phe) rs1174464035
NM_032638.5(GATA2):c.1078T>A (p.Trp360Arg) rs2107668680
NM_032638.5(GATA2):c.1078T>C (p.Trp360Arg)
NM_032638.5(GATA2):c.107C>G (p.Pro36Arg)
NM_032638.5(GATA2):c.1082_1083dup (p.Arg362fs)
NM_032638.5(GATA2):c.1083C>T (p.Arg361=)
NM_032638.5(GATA2):c.1083_1085dup (p.Arg362dup) rs2068634140
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln) rs867160952
NM_032638.5(GATA2):c.1086A>T (p.Arg362=)
NM_032638.5(GATA2):c.1089C>G (p.Asn363Lys)
NM_032638.5(GATA2):c.1089C>T (p.Asn363=) rs753914237
NM_032638.5(GATA2):c.108C>A (p.Pro36=)
NM_032638.5(GATA2):c.108C>G (p.Pro36=) rs1553771148
NM_032638.5(GATA2):c.108C>T (p.Pro36=) rs1553771148
NM_032638.5(GATA2):c.1090G>C (p.Ala364Pro)
NM_032638.5(GATA2):c.1094A>G (p.Asn365Ser) rs773430309
NM_032638.5(GATA2):c.1095C>G (p.Asn365Lys)
NM_032638.5(GATA2):c.109G>A (p.Ala37Thr) rs1576749841
NM_032638.5(GATA2):c.1101C>T (p.Asp367=) rs762228005
NM_032638.5(GATA2):c.1102C>G (p.Pro368Ala) rs2068633510
NM_032638.5(GATA2):c.1102C>T (p.Pro368Ser) rs2068633510
NM_032638.5(GATA2):c.1107C>T (p.Val369=) rs2107668640
NM_032638.5(GATA2):c.1109G>A (p.Cys370Tyr)
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1113C>G (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1114G>A (p.Ala372Thr) rs936826425
NM_032638.5(GATA2):c.1116C>T (p.Ala372=) rs2107668624
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_032638.5(GATA2):c.111G>T (p.Ala37=) rs1314011259
NM_032638.5(GATA2):c.1121G>A (p.Gly374Asp) rs1559985057
NM_032638.5(GATA2):c.1125C>G (p.Leu375=)
NM_032638.5(GATA2):c.1126_1143+54del
NM_032638.5(GATA2):c.1134G>A (p.Lys378=) rs1397473749
NM_032638.5(GATA2):c.1137G>A (p.Leu379=) rs780382117
NM_032638.5(GATA2):c.1140C>T (p.His380=) rs2107668570
NM_032638.5(GATA2):c.1141A>G (p.Asn381Asp)
NM_032638.5(GATA2):c.1143+14G>C
NM_032638.5(GATA2):c.1143+15C>G rs2068632552
NM_032638.5(GATA2):c.1143+16C>T
NM_032638.5(GATA2):c.1143+18C>A rs373994017
NM_032638.5(GATA2):c.1143+18C>T rs373994017
NM_032638.5(GATA2):c.1143+19G>A rs200465884
NM_032638.5(GATA2):c.1143+19G>C rs200465884
NM_032638.5(GATA2):c.1143+20G>A rs374234165
NM_032638.5(GATA2):c.1143+20del rs748100223
NM_032638.5(GATA2):c.1143+2dup
NM_032638.5(GATA2):c.1143+3G>A
NM_032638.5(GATA2):c.1143+7del
NM_032638.5(GATA2):c.1143T>C (p.Asn381=) rs1576745111
NM_032638.5(GATA2):c.1144-12G>T
NM_032638.5(GATA2):c.1144-16T>C
NM_032638.5(GATA2):c.1144-16T>G
NM_032638.5(GATA2):c.1144-17C>G rs2107668148
NM_032638.5(GATA2):c.1144-5T>G rs2068625908
NM_032638.5(GATA2):c.1144-6C>T rs878855167
NM_032638.5(GATA2):c.1144G>T (p.Val382Phe) rs1559984811
NM_032638.5(GATA2):c.1145T>C (p.Val382Ala)
NM_032638.5(GATA2):c.1146T>A (p.Val382=)
NM_032638.5(GATA2):c.1148A>G (p.Asn383Ser) rs2068625752
NM_032638.5(GATA2):c.1148dup (p.Asn383fs)
NM_032638.5(GATA2):c.1154C>T (p.Pro385Leu) rs2107668121
NM_032638.5(GATA2):c.1155A>G (p.Pro385=) rs2107668119
NM_032638.5(GATA2):c.1158G>C (p.Leu386=) rs2107668116
NM_032638.5(GATA2):c.1158G>T (p.Leu386=) rs2107668116
NM_032638.5(GATA2):c.1159A>G (p.Thr387Ala)
NM_032638.5(GATA2):c.1160_1168del (p.Thr387_Lys389del) rs1553770444
NM_032638.5(GATA2):c.1161C>A (p.Thr387=) rs775990572
NM_032638.5(GATA2):c.1161C>T (p.Thr387=)
NM_032638.5(GATA2):c.1161_1172del (p.Met388_Glu391del) rs2107668082
NM_032638.5(GATA2):c.1162A>G (p.Met388Val) rs2107668104
NM_032638.5(GATA2):c.1165AAG[1] (p.Lys390del) rs1576744556
NM_032638.5(GATA2):c.1166_1181delinsCATG (p.Lys389_Gln394delinsThrTrp) rs2068625186
NM_032638.5(GATA2):c.1171_1182del (p.Glu391_Gln394del) rs2107668060
NM_032638.5(GATA2):c.1177A>C (p.Ile393Leu)
NM_032638.5(GATA2):c.1178T>C (p.Ile393Thr) rs2068625277
NM_032638.5(GATA2):c.1180C>T (p.Gln394Ter)
NM_032638.5(GATA2):c.1185T>G (p.Thr395=)
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) rs1576744529
NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln) rs1553770434
NM_032638.5(GATA2):c.1188G>A (p.Arg396=)
NM_032638.5(GATA2):c.1192C>G (p.Arg398Gly)
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032638.5(GATA2):c.1193G>A (p.Arg398Gln) rs1420609104
NM_032638.5(GATA2):c.1194G>C (p.Arg398=) rs1576744514
NM_032638.5(GATA2):c.1196_1197insAG (p.Met400fs)
NM_032638.5(GATA2):c.1198A>T (p.Met400Leu) rs2068624795
NM_032638.5(GATA2):c.1199T>C (p.Met400Thr) rs2107668039
NM_032638.5(GATA2):c.11C>A (p.Ala4Glu) rs1576750043
NM_032638.5(GATA2):c.1200G>A (p.Met400Ile) rs1060500086
NM_032638.5(GATA2):c.1205A>G (p.Asn402Ser) rs375927513
NM_032638.5(GATA2):c.120G>A (p.Leu40=)
NM_032638.5(GATA2):c.1210T>C (p.Ser404Pro) rs2107668026
NM_032638.5(GATA2):c.1212C>T (p.Ser404=) rs2107668021
NM_032638.5(GATA2):c.1214A>G (p.Lys405Arg)
NM_032638.5(GATA2):c.1215G>C (p.Lys405Asn)
NM_032638.5(GATA2):c.1215G>T (p.Lys405Asn) rs779797858
NM_032638.5(GATA2):c.1216A>C (p.Lys406Gln)
NM_032638.5(GATA2):c.1217A>G (p.Lys406Arg) rs756096688
NM_032638.5(GATA2):c.1217del (p.Lys406fs)
NM_032638.5(GATA2):c.121C>A (p.Pro41Thr)
NM_032638.5(GATA2):c.121C>T (p.Pro41Ser) rs143590990
NM_032638.5(GATA2):c.1221C>A (p.Ser407Arg) rs2068624284
NM_032638.5(GATA2):c.1222A>G (p.Lys408Glu) rs1576744467
NM_032638.5(GATA2):c.1223A>G (p.Lys408Arg) rs2107667997
NM_032638.5(GATA2):c.1230G>A (p.Gly410=) rs1461907039
NM_032638.5(GATA2):c.1231G>C (p.Ala411Pro)
NM_032638.5(GATA2):c.1232C>A (p.Ala411Glu) rs374457534
NM_032638.5(GATA2):c.1236G>A (p.Glu412=) rs1559984721
NM_032638.5(GATA2):c.1236G>T (p.Glu412Asp) rs1559984721
NM_032638.5(GATA2):c.1238G>A (p.Cys413Tyr) rs1283468852
NM_032638.5(GATA2):c.123T>G (p.Pro41=) rs1022734850
NM_032638.5(GATA2):c.1241T>C (p.Phe414Ser)
NM_032638.5(GATA2):c.1242C>G (p.Phe414Leu) rs751577185
NM_032638.5(GATA2):c.1246G>A (p.Glu416Lys) rs2107667967
NM_032638.5(GATA2):c.1246_1247delinsTT (p.Glu416Leu)
NM_032638.5(GATA2):c.1248G>A (p.Glu416=)
NM_032638.5(GATA2):c.1248G>C (p.Glu416Asp) rs1553770425
NM_032638.5(GATA2):c.1250T>C (p.Leu417Pro) rs2107667961
NM_032638.5(GATA2):c.1252T>A (p.Ser418Thr)
NM_032638.5(GATA2):c.1254A>G (p.Ser418=) rs2107667956
NM_032638.5(GATA2):c.1258T>G (p.Cys420Gly)
NM_032638.5(GATA2):c.1261A>T (p.Met421Leu) rs764442526
NM_032638.5(GATA2):c.1263G>A (p.Met421Ile) rs1553770422
NM_032638.5(GATA2):c.1266G>A (p.Gln422=) rs984462931
NM_032638.5(GATA2):c.1267G>A (p.Glu423Lys) rs758517602
NM_032638.5(GATA2):c.1267del (p.Glu423fs)
NM_032638.5(GATA2):c.1269G>C (p.Glu423Asp)
NM_032638.5(GATA2):c.126A>T (p.Pro42=)
NM_032638.5(GATA2):c.1272G>A (p.Lys424=) rs2107667935
NM_032638.5(GATA2):c.1273T>C (p.Ser425Pro) rs753159607
NM_032638.5(GATA2):c.1276T>C (p.Ser426Pro)
NM_032638.5(GATA2):c.1277C>A (p.Ser426Tyr)
NM_032638.5(GATA2):c.1279C>G (p.Pro427Ala) rs2107667917
NM_032638.5(GATA2):c.1280C>G (p.Pro427Arg) rs2068623217
NM_032638.5(GATA2):c.1280C>T (p.Pro427Leu)
NM_032638.5(GATA2):c.1281C>G (p.Pro427=) rs2107667911
NM_032638.5(GATA2):c.1281C>T (p.Pro427=)
NM_032638.5(GATA2):c.1282T>A (p.Phe428Ile) rs909675639
NM_032638.5(GATA2):c.1283T>A (p.Phe428Tyr)
NM_032638.5(GATA2):c.1286G>A (p.Ser429Asn) rs201155045
NM_032638.5(GATA2):c.1287T>A (p.Ser429Arg)
NM_032638.5(GATA2):c.1287T>C (p.Ser429=)
NM_032638.5(GATA2):c.1289C>T (p.Ala430Val) rs2068623044
NM_032638.5(GATA2):c.1292C>T (p.Ala431Val) rs2107667891
NM_032638.5(GATA2):c.1294G>A (p.Ala432Thr)
NM_032638.5(GATA2):c.1295C>G (p.Ala432Gly) rs2107667887
NM_032638.5(GATA2):c.1296C>T (p.Ala432=) rs2068622930
NM_032638.5(GATA2):c.1297C>G (p.Leu433Val)
NM_032638.5(GATA2):c.129C>G (p.Asp43Glu) rs2107673546
NM_032638.5(GATA2):c.129C>T (p.Asp43=) rs2107673546
NM_032638.5(GATA2):c.1300G>A (p.Ala434Thr)
NM_032638.5(GATA2):c.1300G>C (p.Ala434Pro) rs1576744335
NM_032638.5(GATA2):c.1301C>T (p.Ala434Val) rs2107667873
NM_032638.5(GATA2):c.1303G>C (p.Gly435Arg)
NM_032638.5(GATA2):c.1306C>T (p.His436Tyr)
NM_032638.5(GATA2):c.1306_1307insTCCA (p.His436fs)
NM_032638.5(GATA2):c.1307A>T (p.His436Leu) rs2107667864
NM_032638.5(GATA2):c.130G>T (p.Glu44Ter) rs2107673544
NM_032638.5(GATA2):c.1315C>T (p.Pro439Ser) rs1576744314
NM_032638.5(GATA2):c.1316C>A (p.Pro439His)
NM_032638.5(GATA2):c.1316C>T (p.Pro439Leu)
NM_032638.5(GATA2):c.1325A>C (p.His442Pro)
NM_032638.5(GATA2):c.1325A>G (p.His442Arg)
NM_032638.5(GATA2):c.1329C>A (p.Leu443=) rs769577309
NM_032638.5(GATA2):c.1329C>G (p.Leu443=) rs769577309
NM_032638.5(GATA2):c.132G>T (p.Glu44Asp) rs2068708917
NM_032638.5(GATA2):c.1331C>G (p.Pro444Arg)
NM_032638.5(GATA2):c.1334C>T (p.Pro445Leu)
NM_032638.5(GATA2):c.1337T>A (p.Phe446Tyr) rs2068622027
NM_032638.5(GATA2):c.1338C>A (p.Phe446Leu)
NM_032638.5(GATA2):c.1339A>G (p.Ser447Gly)
NM_032638.5(GATA2):c.1339_1366dup (p.Pro456fs)
NM_032638.5(GATA2):c.1341C>T (p.Ser447=)
NM_032638.5(GATA2):c.1347C>G (p.Ser449=)
NM_032638.5(GATA2):c.1347C>T (p.Ser449=) rs150052821
NM_032638.5(GATA2):c.134T>C (p.Val45Ala) rs2107673537
NM_032638.5(GATA2):c.1350A>G (p.Gly450=)
NM_032638.5(GATA2):c.1350A>T (p.Gly450=) rs2068621767
NM_032638.5(GATA2):c.1352A>C (p.His451Pro)
NM_032638.5(GATA2):c.1355T>C (p.Ile452Thr) rs2107667768
NM_032638.5(GATA2):c.1356C>G (p.Ile452Met)
NM_032638.5(GATA2):c.1356C>T (p.Ile452=) rs1576744250
NM_032638.5(GATA2):c.1357C>T (p.Leu453=) rs2107667762
NM_032638.5(GATA2):c.1359G>A (p.Leu453=) rs878855168
NM_032638.5(GATA2):c.1359G>T (p.Leu453=)
NM_032638.5(GATA2):c.1360C>A (p.Pro454Thr) rs774297463
NM_032638.5(GATA2):c.1360C>T (p.Pro454Ser) rs774297463
NM_032638.5(GATA2):c.1361C>A (p.Pro454His) rs2068621583
NM_032638.5(GATA2):c.1363A>C (p.Thr455Pro) rs755408952
NM_032638.5(GATA2):c.1363A>G (p.Thr455Ala) rs755408952
NM_032638.5(GATA2):c.1366C>T (p.Pro456Ser)
NM_032638.5(GATA2):c.1368G>C (p.Pro456=)
NM_032638.5(GATA2):c.1368G>T (p.Pro456=)
NM_032638.5(GATA2):c.1369A>T (p.Thr457Ser)
NM_032638.5(GATA2):c.1370C>A (p.Thr457Lys)
NM_032638.5(GATA2):c.1371G>A (p.Thr457=) rs763539605
NM_032638.5(GATA2):c.1371G>C (p.Thr457=) rs763539605
NM_032638.5(GATA2):c.1372C>T (p.Pro458Ser) rs1169516070
NM_032638.5(GATA2):c.1373C>T (p.Pro458Leu) rs2107667728
NM_032638.5(GATA2):c.1374C>T (p.Pro458=) rs2107667727
NM_032638.5(GATA2):c.1376T>C (p.Ile459Thr) rs369407958
NM_032638.5(GATA2):c.1383C>T (p.Pro461=) rs1200504281
NM_032638.5(GATA2):c.1385C>A (p.Ser462Tyr) rs1559984575
NM_032638.5(GATA2):c.1386C>T (p.Ser462=) rs1060503833
NM_032638.5(GATA2):c.1393C>T (p.Leu465Phe)
NM_032638.5(GATA2):c.1394T>C (p.Leu465Pro)
NM_032638.5(GATA2):c.1396_1397del (p.Ser466fs) rs2107667691
NM_032638.5(GATA2):c.1398C>T (p.Ser466=)
NM_032638.5(GATA2):c.1399_1401del (p.Phe467del) rs2068620357
NM_032638.5(GATA2):c.139G>A (p.Val47Ile) rs1553771139
NM_032638.5(GATA2):c.1403G>A (p.Gly468Asp) rs2107667668
NM_032638.5(GATA2):c.1404C>T (p.Gly468=) rs2107667663
NM_032638.5(GATA2):c.1407C>A (p.His469Gln) rs772050518
NM_032638.5(GATA2):c.1409C>G (p.Pro470Arg) rs1449742251
NM_032638.5(GATA2):c.1409C>T (p.Pro470Leu)
NM_032638.5(GATA2):c.140T>G (p.Val47Gly) rs2068708769
NM_032638.5(GATA2):c.1410C>T (p.Pro470=) rs878855169
NM_032638.5(GATA2):c.1410_1411delinsAA (p.His471Asn)
NM_032638.5(GATA2):c.1411C>T (p.His471Tyr) rs2068619997
NM_032638.5(GATA2):c.1413C>T (p.His471=) rs1328529481
NM_032638.5(GATA2):c.1415C>A (p.Pro472Gln) rs779338723
NM_032638.5(GATA2):c.1415C>T (p.Pro472Leu) rs779338723
NM_032638.5(GATA2):c.1416G>T (p.Pro472=)
NM_032638.5(GATA2):c.1417T>C (p.Ser473Pro)
NM_032638.5(GATA2):c.141C>T (p.Val47=) rs1368584928
NM_032638.5(GATA2):c.1421G>C (p.Ser474Thr)
NM_032638.5(GATA2):c.1423A>G (p.Met475Val) rs1429596189
NM_032638.5(GATA2):c.1423A>T (p.Met475Leu) rs1429596189
NM_032638.5(GATA2):c.1426G>A (p.Val476Met)
NM_032638.5(GATA2):c.1427T>C (p.Val476Ala) rs2068619532
NM_032638.5(GATA2):c.1428G>A (p.Val476=) rs1553770387
NM_032638.5(GATA2):c.142T>C (p.Phe48Leu) rs878855170
NM_032638.5(GATA2):c.1430C>T (p.Thr477Ile) rs2068619463
NM_032638.5(GATA2):c.1433C>T (p.Ala478Val) rs2068619351
NM_032638.5(GATA2):c.1434C>T (p.Ala478=) rs1180428559
NM_032638.5(GATA2):c.1436T>C (p.Met479Thr) rs2068619272
NM_032638.5(GATA2):c.1442A>G (p.Ter481Trp)
NM_032638.5(GATA2):c.144C>T (p.Phe48=) rs1576749792
NM_032638.5(GATA2):c.147C>A (p.Phe49Leu) rs1474218678
NM_032638.5(GATA2):c.147C>T (p.Phe49=) rs1474218678
NM_032638.5(GATA2):c.149A>G (p.Asn50Ser) rs1576749789
NM_032638.5(GATA2):c.14_15delinsTG (p.Pro5Leu)
NM_032638.5(GATA2):c.14_15inv (p.Pro5Arg)
NM_032638.5(GATA2):c.156C>T (p.Leu52=) rs201821076
NM_032638.5(GATA2):c.159C>G (p.Asp53Glu)
NM_032638.5(GATA2):c.15C>A (p.Pro5=)
NM_032638.5(GATA2):c.15C>T (p.Pro5=)
NM_032638.5(GATA2):c.15_16delinsGC (p.Glu6Gln) rs1576750018
NM_032638.5(GATA2):c.160T>G (p.Ser54Ala) rs1576749771
NM_032638.5(GATA2):c.162G>A (p.Ser54=) rs758797691
NM_032638.5(GATA2):c.162G>C (p.Ser54=)
NM_032638.5(GATA2):c.164A>C (p.Gln55Pro) rs2107673491
NM_032638.5(GATA2):c.165G>A (p.Gln55=) rs1012472046
NM_032638.5(GATA2):c.168C>G (p.Gly56=) rs1187891127
NM_032638.5(GATA2):c.168C>T (p.Gly56=) rs1187891127
NM_032638.5(GATA2):c.16G>A (p.Glu6Lys) rs760132552
NM_032638.5(GATA2):c.170A>C (p.Asn57Thr) rs2068708141
NM_032638.5(GATA2):c.171C>G (p.Asn57Lys) rs2068708105
NM_032638.5(GATA2):c.171C>T (p.Asn57=)
NM_032638.5(GATA2):c.172C>T (p.Pro58Ser) rs2068708070
NM_032638.5(GATA2):c.173C>A (p.Pro58His) rs2107673477
NM_032638.5(GATA2):c.173C>T (p.Pro58Leu)
NM_032638.5(GATA2):c.174C>G (p.Pro58=) rs112460453
NM_032638.5(GATA2):c.179A>G (p.Tyr60Cys) rs750003894
NM_032638.5(GATA2):c.186C>T (p.Asn62=) rs751200779
NM_032638.5(GATA2):c.187C>G (p.Pro63Ala) rs1240150433
NM_032638.5(GATA2):c.188C>T (p.Pro63Leu) rs1576749724
NM_032638.5(GATA2):c.189C>A (p.Pro63=) rs763735447
NM_032638.5(GATA2):c.189C>G (p.Pro63=)
NM_032638.5(GATA2):c.190G>T (p.Ala64Ser) rs370831063
NM_032638.5(GATA2):c.192T>A (p.Ala64=)
NM_032638.5(GATA2):c.193C>T (p.His65Tyr) rs2107673433
NM_032638.5(GATA2):c.196G>T (p.Ala66Ser) rs2068707355
NM_032638.5(GATA2):c.197C>T (p.Ala66Val) rs2068707325
NM_032638.5(GATA2):c.198G>A (p.Ala66=)
NM_032638.5(GATA2):c.198G>C (p.Ala66=) rs2068707298
NM_032638.5(GATA2):c.201_204del (p.Arg69fs)
NM_032638.5(GATA2):c.202G>T (p.Ala68Ser)
NM_032638.5(GATA2):c.202del (p.Ala68fs)
NM_032638.5(GATA2):c.203C>T (p.Ala68Val)
NM_032638.5(GATA2):c.204G>A (p.Ala68=) rs886057932
NM_032638.5(GATA2):c.205C>T (p.Arg69Cys)
NM_032638.5(GATA2):c.206G>A (p.Arg69His) rs1457679310
NM_032638.5(GATA2):c.206_207delinsTT (p.Arg69Leu) rs2068706969
NM_032638.5(GATA2):c.207C>A (p.Arg69=)
NM_032638.5(GATA2):c.207C>G (p.Arg69=) rs2107673399
NM_032638.5(GATA2):c.20A>G (p.Gln7Arg)
NM_032638.5(GATA2):c.210C>T (p.Val70=) rs2107673388
NM_032638.5(GATA2):c.211T>G (p.Ser71Ala)
NM_032638.5(GATA2):c.215A>G (p.Tyr72Cys)
NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter) rs1254938356
NM_032638.5(GATA2):c.217A>G (p.Ser73Gly)
NM_032638.5(GATA2):c.219C>G (p.Ser73Arg)
NM_032638.5(GATA2):c.21G>A (p.Gln7=)
NM_032638.5(GATA2):c.221C>T (p.Pro74Leu) rs776819522
NM_032638.5(GATA2):c.222C>A (p.Pro74=) rs1190822571
NM_032638.5(GATA2):c.222C>G (p.Pro74=)
NM_032638.5(GATA2):c.222C>T (p.Pro74=) rs1190822571
NM_032638.5(GATA2):c.223G>A (p.Ala75Thr) rs1179893883
NM_032638.5(GATA2):c.223G>T (p.Ala75Ser) rs1179893883
NM_032638.5(GATA2):c.224C>G (p.Ala75Gly) rs1559987952
NM_032638.5(GATA2):c.226C>G (p.His76Asp)
NM_032638.5(GATA2):c.227A>G (p.His76Arg) rs1576749657
NM_032638.5(GATA2):c.228C>G (p.His76Gln)
NM_032638.5(GATA2):c.228C>T (p.His76=) rs770940723
NM_032638.5(GATA2):c.229+10G>A
NM_032638.5(GATA2):c.229+11G>A rs2107673354
NM_032638.5(GATA2):c.229+12G>A
NM_032638.5(GATA2):c.229+12dup
NM_032638.5(GATA2):c.229+14C>A
NM_032638.5(GATA2):c.229+14C>T
NM_032638.5(GATA2):c.229+15C>A rs767013148
NM_032638.5(GATA2):c.229+16G>A
NM_032638.5(GATA2):c.229+19G>A
NM_032638.5(GATA2):c.229+19G>C rs1259849242
NM_032638.5(GATA2):c.229+7A>C
NM_032638.5(GATA2):c.229+8C>G
NM_032638.5(GATA2):c.230-10_230-9del
NM_032638.5(GATA2):c.230-11T>C
NM_032638.5(GATA2):c.230-12C>T rs2107673037
NM_032638.5(GATA2):c.230-12_230-9del rs760230147
NM_032638.5(GATA2):c.230-14C>T rs1041005511
NM_032638.5(GATA2):c.230-16C>G rs2107673040
NM_032638.5(GATA2):c.230-20C>T
NM_032638.5(GATA2):c.230-20CT[3] rs1256875071
NM_032638.5(GATA2):c.230-5C>T
NM_032638.5(GATA2):c.230-6C>G
NM_032638.5(GATA2):c.230-6C>T rs2107673017
NM_032638.5(GATA2):c.230-8G>T rs780435066
NM_032638.5(GATA2):c.231C>T (p.Ala77=) rs2107673008
NM_032638.5(GATA2):c.232C>A (p.Arg78Ser)
NM_032638.5(GATA2):c.233G>T (p.Arg78Leu)
NM_032638.5(GATA2):c.236T>C (p.Leu79Pro)
NM_032638.5(GATA2):c.238A>G (p.Thr80Ala)
NM_032638.5(GATA2):c.239C>A (p.Thr80Asn) rs1371798524
NM_032638.5(GATA2):c.23C>A (p.Pro8Gln) rs771557922
NM_032638.5(GATA2):c.23C>G (p.Pro8Arg) rs771557922
NM_032638.5(GATA2):c.23C>T (p.Pro8Leu) rs771557922
NM_032638.5(GATA2):c.240C>T (p.Thr80=) rs570641046
NM_032638.5(GATA2):c.241G>A (p.Gly81Arg)
NM_032638.5(GATA2):c.241G>C (p.Gly81Arg)
NM_032638.5(GATA2):c.242G>C (p.Gly81Ala) rs1060500083
NM_032638.5(GATA2):c.244G>A (p.Gly82Ser)
NM_032638.5(GATA2):c.245G>T (p.Gly82Val)
NM_032638.5(GATA2):c.246C>T (p.Gly82=)
NM_032638.5(GATA2):c.248A>G (p.Gln83Arg) rs1426636606
NM_032638.5(GATA2):c.24G>C (p.Pro8=) rs2107673761
NM_032638.5(GATA2):c.253T>C (p.Cys85Arg)
NM_032638.5(GATA2):c.254G>A (p.Cys85Tyr)
NM_032638.5(GATA2):c.255C>T (p.Cys85=) rs1553771065
NM_032638.5(GATA2):c.257G>A (p.Arg86His) rs2068699579
NM_032638.5(GATA2):c.258C>T (p.Arg86=) rs2068699547
NM_032638.5(GATA2):c.259C>T (p.Pro87Ser)
NM_032638.5(GATA2):c.25C>T (p.Arg9Cys) rs1436974541
NM_032638.5(GATA2):c.262C>T (p.His88Tyr) rs1208261775
NM_032638.5(GATA2):c.265T>C (p.Leu89=)
NM_032638.5(GATA2):c.268T>C (p.Leu90=) rs2068699336
NM_032638.5(GATA2):c.268T>G (p.Leu90Val)
NM_032638.5(GATA2):c.26G>A (p.Arg9His)
NM_032638.5(GATA2):c.273C>T (p.His91=)
NM_032638.5(GATA2):c.275G>A (p.Ser92Asn)
NM_032638.5(GATA2):c.277C>T (p.Pro93Ser)
NM_032638.5(GATA2):c.278C>A (p.Pro93Gln) rs1269493584
NM_032638.5(GATA2):c.279G>C (p.Pro93=) rs142993548
NM_032638.5(GATA2):c.279G>T (p.Pro93=) rs142993548
NM_032638.5(GATA2):c.27_28inv (p.Trp10Gly)
NM_032638.5(GATA2):c.281G>T (p.Gly94Val) rs2068699101
NM_032638.5(GATA2):c.283T>G (p.Leu95Val)
NM_032638.5(GATA2):c.286C>T (p.Pro96Ser) rs868076604
NM_032638.5(GATA2):c.288C>T (p.Pro96=) rs1310919793
NM_032638.5(GATA2):c.288_289del (p.Trp97fs)
NM_032638.5(GATA2):c.28T>C (p.Trp10Arg) rs1576749993
NM_032638.5(GATA2):c.296A>G (p.Asp99Gly)
NM_032638.5(GATA2):c.297C>A (p.Asp99Glu)
NM_032638.5(GATA2):c.297C>T (p.Asp99=) rs1411693599
NM_032638.5(GATA2):c.298G>A (p.Gly100Arg)
NM_032638.5(GATA2):c.299G>A (p.Gly100Glu) rs1170563192
NM_032638.5(GATA2):c.299_300delinsTT (p.Gly100Val) rs1060500084
NM_032638.5(GATA2):c.29G>T (p.Trp10Leu)
NM_032638.5(GATA2):c.2T>G (p.Met1Arg)
NM_032638.5(GATA2):c.300G>A (p.Gly100=) rs1475853382
NM_032638.5(GATA2):c.301G>T (p.Gly101Cys) rs1420466869
NM_032638.5(GATA2):c.302G>A (p.Gly101Asp) rs1553771053
NM_032638.5(GATA2):c.302G>C (p.Gly101Ala) rs1553771053
NM_032638.5(GATA2):c.304A>G (p.Lys102Glu) rs2107672871
NM_032638.5(GATA2):c.305_309del (p.Lys102fs)
NM_032638.5(GATA2):c.307G>A (p.Ala103Thr) rs1186170515
NM_032638.5(GATA2):c.307G>C (p.Ala103Pro)
NM_032638.5(GATA2):c.308C>T (p.Ala103Val) rs2068698528
NM_032638.5(GATA2):c.309A>T (p.Ala103=) rs2107672866
NM_032638.5(GATA2):c.310G>T (p.Ala104Ser) rs1060500089
NM_032638.5(GATA2):c.313C>G (p.Leu105Val)
NM_032638.5(GATA2):c.313C>T (p.Leu105Phe) rs2107672852
NM_032638.5(GATA2):c.315C>G (p.Leu105=) rs750545562
NM_032638.5(GATA2):c.319G>A (p.Ala107Thr) rs2107672841
NM_032638.5(GATA2):c.319_320delinsAA (p.Ala107Asn) rs2107672839
NM_032638.5(GATA2):c.322G>C (p.Ala108Pro) rs1435547673
NM_032638.5(GATA2):c.322G>T (p.Ala108Ser)
NM_032638.5(GATA2):c.323C>T (p.Ala108Val)
NM_032638.5(GATA2):c.326C>A (p.Ala109Glu)
NM_032638.5(GATA2):c.329C>T (p.Ala110Val)
NM_032638.5(GATA2):c.330C>G (p.Ala110=) rs1336779925
NM_032638.5(GATA2):c.330C>T (p.Ala110=)
NM_032638.5(GATA2):c.331CAC[2] (p.His113del) rs777017660
NM_032638.5(GATA2):c.331CAC[4] (p.His113dup) rs777017660
NM_032638.5(GATA2):c.332A>T (p.His111Leu)
NM_032638.5(GATA2):c.334C>G (p.His112Asp)
NM_032638.5(GATA2):c.335A>G (p.His112Arg) rs2107672812
NM_032638.5(GATA2):c.338A>G (p.His113Arg) rs1576749120
NM_032638.5(GATA2):c.339C>T (p.His113=) rs1232401609
NM_032638.5(GATA2):c.340A>G (p.Asn114Asp)
NM_032638.5(GATA2):c.341A>G (p.Asn114Ser) rs2068697781
NM_032638.5(GATA2):c.342C>A (p.Asn114Lys)
NM_032638.5(GATA2):c.342C>T (p.Asn114=) rs2068697745
NM_032638.5(GATA2):c.34G>A (p.Ala12Thr) rs2107673742
NM_032638.5(GATA2):c.353T>C (p.Val118Ala) rs2068697596
NM_032638.5(GATA2):c.355A>G (p.Ser119Gly)
NM_032638.5(GATA2):c.360C>A (p.Pro120=) rs2107672772
NM_032638.5(GATA2):c.365C>G (p.Ser122Cys) rs2068697462
NM_032638.5(GATA2):c.368A>G (p.Lys123Arg) rs2107672765
NM_032638.5(GATA2):c.369G>A (p.Lys123=)
NM_032638.5(GATA2):c.372G>C (p.Thr124=)
NM_032638.5(GATA2):c.377T>A (p.Leu126Gln)
NM_032638.5(GATA2):c.377T>G (p.Leu126Arg) rs2107672753
NM_032638.5(GATA2):c.379C>A (p.His127Asn) rs1163426216
NM_032638.5(GATA2):c.380A>G (p.His127Arg) rs1576749074
NM_032638.5(GATA2):c.381C>T (p.His127=) rs1576749068
NM_032638.5(GATA2):c.384C>G (p.Pro128=) rs1409241581
NM_032638.5(GATA2):c.384dup (p.Ser129fs)
NM_032638.5(GATA2):c.391G>A (p.Ala131Thr)
NM_032638.5(GATA2):c.393TGGAGGCCC[1] (p.132GGP[1]) rs2068696512
NM_032638.5(GATA2):c.397G>A (p.Gly133Ser) rs1468344279
NM_032638.5(GATA2):c.397G>C (p.Gly133Arg)
NM_032638.5(GATA2):c.39C>A (p.His13Gln) rs2068711214
NM_032638.5(GATA2):c.400C>A (p.Pro134Thr) rs2068696903
NM_032638.5(GATA2):c.401C>T (p.Pro134Leu)
NM_032638.5(GATA2):c.405A>C (p.Gly135=)
NM_032638.5(GATA2):c.40C>A (p.Pro14Thr)
NM_032638.5(GATA2):c.414C>T (p.Leu138=) rs1194339909
NM_032638.5(GATA2):c.415T>C (p.Ser139Pro)
NM_032638.5(GATA2):c.417T>C (p.Ser139=) rs1576749006
NM_032638.5(GATA2):c.418G>A (p.Val140Met)
NM_032638.5(GATA2):c.419T>C (p.Val140Ala) rs1576749003
NM_032638.5(GATA2):c.41C>A (p.Pro14Gln)
NM_032638.5(GATA2):c.41C>G (p.Pro14Arg) rs780089207
NM_032638.5(GATA2):c.420G>A (p.Val140=)
NM_032638.5(GATA2):c.421T>C (p.Tyr141His)
NM_032638.5(GATA2):c.423C>G (p.Tyr141Ter)
NM_032638.5(GATA2):c.424C>G (p.Pro142Ala) rs2068696200
NM_032638.5(GATA2):c.424C>T (p.Pro142Ser) rs2068696200
NM_032638.5(GATA2):c.42G>A (p.Pro14=) rs372722885
NM_032638.5(GATA2):c.430G>A (p.Ala144Thr)
NM_032638.5(GATA2):c.431C>G (p.Ala144Gly) rs747596994
NM_032638.5(GATA2):c.433G>A (p.Gly145Arg) rs2107672664
NM_032638.5(GATA2):c.433G>C (p.Gly145Arg)
NM_032638.5(GATA2):c.436G>A (p.Gly146Ser)
NM_032638.5(GATA2):c.437G>T (p.Gly146Val) rs754645961
NM_032638.5(GATA2):c.437dup (p.Gly147fs) rs2107672654
NM_032638.5(GATA2):c.439G>A (p.Gly147Arg) rs2107672652
NM_032638.5(GATA2):c.43G>A (p.Ala15Thr)
NM_032638.5(GATA2):c.43G>C (p.Ala15Pro)
NM_032638.5(GATA2):c.443G>A (p.Ser148Asn)
NM_032638.5(GATA2):c.444C>T (p.Ser148=) rs1399340424
NM_032638.5(GATA2):c.446G>A (p.Gly149Glu)
NM_032638.5(GATA2):c.446G>C (p.Gly149Ala) rs1184430909
NM_032638.5(GATA2):c.447G>C (p.Gly149=) rs2107672635
NM_032638.5(GATA2):c.448G>A (p.Gly150Arg) rs2068695615
NM_032638.5(GATA2):c.449G>A (p.Gly150Glu)
NM_032638.5(GATA2):c.44C>A (p.Ala15Asp) rs2068710977
NM_032638.5(GATA2):c.455G>A (p.Ser152Asn) rs1576748936
NM_032638.5(GATA2):c.456C>G (p.Ser152Arg) rs750384699
NM_032638.5(GATA2):c.458G>A (p.Gly153Glu) rs2107672609
NM_032638.5(GATA2):c.459G>A (p.Gly153=) rs2107672607
NM_032638.5(GATA2):c.45C>A (p.Ala15=) rs1278414376
NM_032638.5(GATA2):c.45C>G (p.Ala15=) rs1278414376
NM_032638.5(GATA2):c.45C>T (p.Ala15=)
NM_032638.5(GATA2):c.462C>T (p.Ser154=) rs2107672600
NM_032638.5(GATA2):c.463T>C (p.Ser155Pro)
NM_032638.5(GATA2):c.466G>C (p.Val156Leu) rs2068695139
NM_032638.5(GATA2):c.467T>A (p.Val156Glu) rs2107672592
NM_032638.5(GATA2):c.468G>A (p.Val156=) rs1576748915
NM_032638.5(GATA2):c.468G>T (p.Val156=)
NM_032638.5(GATA2):c.469G>T (p.Ala157Ser) rs1559987441
NM_032638.5(GATA2):c.46G>A (p.Val16Met) rs781485787
NM_032638.5(GATA2):c.470C>G (p.Ala157Gly)
NM_032638.5(GATA2):c.471C>T (p.Ala157=) rs2107672586
NM_032638.5(GATA2):c.473C>G (p.Ser158Cys)
NM_032638.5(GATA2):c.474C>T (p.Ser158=) rs2107672579
NM_032638.5(GATA2):c.476_479dup (p.Pro161fs) rs2107672568
NM_032638.5(GATA2):c.477C>G (p.Leu159=) rs761892289
NM_032638.5(GATA2):c.477C>T (p.Leu159=) rs761892289
NM_032638.5(GATA2):c.478A>C (p.Thr160Pro)
NM_032638.5(GATA2):c.478A>T (p.Thr160Ser)
NM_032638.5(GATA2):c.479C>A (p.Thr160Asn) rs751621459
NM_032638.5(GATA2):c.479C>G (p.Thr160Ser) rs751621459
NM_032638.5(GATA2):c.47T>G (p.Val16Gly)
NM_032638.5(GATA2):c.480C>A (p.Thr160=) rs199640729
NM_032638.5(GATA2):c.481C>T (p.Pro161Ser) rs34799090
NM_032638.5(GATA2):c.484A>C (p.Thr162Pro)
NM_032638.5(GATA2):c.484A>G (p.Thr162Ala) rs770215567
NM_032638.5(GATA2):c.485C>T (p.Thr162Ile)
NM_032638.5(GATA2):c.489A>G (p.Ala163=)
NM_032638.5(GATA2):c.48G>A (p.Val16=)
NM_032638.5(GATA2):c.48G>T (p.Val16=) rs757404617
NM_032638.5(GATA2):c.491C>T (p.Ala164Val) rs17844950
NM_032638.5(GATA2):c.492C>G (p.Ala164=) rs1363204381
NM_032638.5(GATA2):c.493C>T (p.His165Tyr)
NM_032638.5(GATA2):c.494A>G (p.His165Arg) rs1559987389
NM_032638.5(GATA2):c.494A>T (p.His165Leu) rs1559987389
NM_032638.5(GATA2):c.495C>A (p.His165Gln) rs887833751
NM_032638.5(GATA2):c.495C>G (p.His165Gln)
NM_032638.5(GATA2):c.495C>T (p.His165=) rs887833751
NM_032638.5(GATA2):c.499G>A (p.Gly167Ser) rs2107672519
NM_032638.5(GATA2):c.49C>A (p.Leu17Met) rs752025757
NM_032638.5(GATA2):c.4G>C (p.Glu2Gln) rs2107673807
NM_032638.5(GATA2):c.504C>A (p.Ser168=) rs1436261988
NM_032638.5(GATA2):c.504C>T (p.Ser168=) rs1436261988
NM_032638.5(GATA2):c.507C>T (p.His169=) rs1392717588
NM_032638.5(GATA2):c.508C>A (p.Leu170Ile) rs2068693988
NM_032638.5(GATA2):c.509T>C (p.Leu170Pro)
NM_032638.5(GATA2):c.50T>A (p.Leu17Gln) rs777965976
NM_032638.5(GATA2):c.510T>G (p.Leu170=) rs2107672498
NM_032638.5(GATA2):c.512T>A (p.Phe171Tyr)
NM_032638.5(GATA2):c.513C>T (p.Phe171=) rs1174665216
NM_032638.5(GATA2):c.517T>C (p.Phe173Leu) rs2107672486
NM_032638.5(GATA2):c.519C>T (p.Phe173=) rs748950881
NM_032638.5(GATA2):c.522del (p.Thr176fs)
NM_032638.5(GATA2):c.523C>T (p.Pro175Ser) rs779526840
NM_032638.5(GATA2):c.524C>A (p.Pro175His) rs755939655
NM_032638.5(GATA2):c.524C>T (p.Pro175Leu) rs755939655
NM_032638.5(GATA2):c.527C>A (p.Thr176Lys) rs750157738
NM_032638.5(GATA2):c.527C>T (p.Thr176Met) rs750157738
NM_032638.5(GATA2):c.528G>A (p.Thr176=)
NM_032638.5(GATA2):c.533C>A (p.Pro178His) rs2068693389
NM_032638.5(GATA2):c.533C>G (p.Pro178Arg)
NM_032638.5(GATA2):c.534C>G (p.Pro178=)
NM_032638.5(GATA2):c.535A>G (p.Lys179Glu)
NM_032638.5(GATA2):c.536A>C (p.Lys179Thr) rs751678435
NM_032638.5(GATA2):c.536A>T (p.Lys179Ile)
NM_032638.5(GATA2):c.539A>C (p.Glu180Ala) rs1028518743
NM_032638.5(GATA2):c.539A>G (p.Glu180Gly) rs1028518743
NM_032638.5(GATA2):c.540A>C (p.Glu180Asp)
NM_032638.5(GATA2):c.541G>A (p.Val181Met) rs1060500093
NM_032638.5(GATA2):c.541G>C (p.Val181Leu) rs1060500093
NM_032638.5(GATA2):c.542T>A (p.Val181Glu) rs1213379943
NM_032638.5(GATA2):c.542T>G (p.Val181Gly)
NM_032638.5(GATA2):c.544T>A (p.Ser182Thr)
NM_032638.5(GATA2):c.544T>C (p.Ser182Pro) rs1294359651
NM_032638.5(GATA2):c.545C>T (p.Ser182Phe) rs2068692930
NM_032638.5(GATA2):c.550G>C (p.Asp184His)
NM_032638.5(GATA2):c.552C>T (p.Asp184=)
NM_032638.5(GATA2):c.553C>A (p.Pro185Thr) rs1373180685
NM_032638.5(GATA2):c.554C>G (p.Pro185Arg)
NM_032638.5(GATA2):c.557G>A (p.Ser186Asn) rs2107672374
NM_032638.5(GATA2):c.558C>T (p.Ser186=)
NM_032638.5(GATA2):c.560C>G (p.Thr187Ser) rs1553770972
NM_032638.5(GATA2):c.560C>T (p.Thr187Ile)
NM_032638.5(GATA2):c.562A>G (p.Thr188Ala)
NM_032638.5(GATA2):c.563C>T (p.Thr188Met) rs2068692665
NM_032638.5(GATA2):c.564G>A (p.Thr188=) rs34870876
NM_032638.5(GATA2):c.566G>A (p.Gly189Glu) rs2107672357
NM_032638.5(GATA2):c.567G>A (p.Gly189=) rs1293644494
NM_032638.5(GATA2):c.568G>A (p.Ala190Thr) rs202162468
NM_032638.5(GATA2):c.568G>T (p.Ala190Ser) rs202162468
NM_032638.5(GATA2):c.569C>G (p.Ala190Gly)
NM_032638.5(GATA2):c.573G>A (p.Ala191=) rs1060503832
NM_032638.5(GATA2):c.573G>T (p.Ala191=) rs1060503832
NM_032638.5(GATA2):c.574T>C (p.Ser192Pro) rs761237564
NM_032638.5(GATA2):c.577C>G (p.Pro193Ala)
NM_032638.5(GATA2):c.577C>T (p.Pro193Ser)
NM_032638.5(GATA2):c.578C>T (p.Pro193Leu)
NM_032638.5(GATA2):c.57G>T (p.Ala19=) rs2107673691
NM_032638.5(GATA2):c.580G>T (p.Ala194Ser)
NM_032638.5(GATA2):c.587C>T (p.Ser196Phe) rs1200135021
NM_032638.5(GATA2):c.591C>T (p.Ser197=)
NM_032638.5(GATA2):c.592G>A (p.Ala198Thr) rs1576748685
NM_032638.5(GATA2):c.592G>C (p.Ala198Pro) rs1576748685
NM_032638.5(GATA2):c.592G>T (p.Ala198Ser) rs1576748685
NM_032638.5(GATA2):c.596G>C (p.Gly199Ala)
NM_032638.5(GATA2):c.596G>T (p.Gly199Val) rs780930549
NM_032638.5(GATA2):c.597G>T (p.Gly199=)
NM_032638.5(GATA2):c.598G>C (p.Gly200Arg)
NM_032638.5(GATA2):c.599G>A (p.Gly200Asp) rs373477245
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala) rs373477245
NM_032638.5(GATA2):c.599G>T (p.Gly200Val) rs373477245
NM_032638.5(GATA2):c.599del (p.Gly200fs) rs768767517
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_032638.5(GATA2):c.59A>C (p.Gln20Pro) rs1303947441
NM_032638.5(GATA2):c.600T>C (p.Gly200=)
NM_032638.5(GATA2):c.600T>G (p.Gly200=)
NM_032638.5(GATA2):c.603T>C (p.Ser201=)
NM_032638.5(GATA2):c.607G>C (p.Ala203Pro) rs1353988929
NM_032638.5(GATA2):c.607G>T (p.Ala203Ser) rs1353988929
NM_032638.5(GATA2):c.610C>G (p.Arg204Gly)
NM_032638.5(GATA2):c.614G>A (p.Gly205Glu)
NM_032638.5(GATA2):c.615_629dup (p.Gly210_Val211insGluAspLysAspGly)
NM_032638.5(GATA2):c.616G>C (p.Glu206Gln) rs1060500087
NM_032638.5(GATA2):c.619G>A (p.Asp207Asn) rs2068691024
NM_032638.5(GATA2):c.61C>T (p.His21Tyr)
NM_032638.5(GATA2):c.620A>G (p.Asp207Gly) rs2107672269
NM_032638.5(GATA2):c.625G>A (p.Asp209Asn) rs998737902
NM_032638.5(GATA2):c.627C>T (p.Asp209=) rs370923405
NM_032638.5(GATA2):c.629_631dup (p.Gly210dup) rs1553770955
NM_032638.5(GATA2):c.62A>T (p.His21Leu) rs1576749923
NM_032638.5(GATA2):c.630C>T (p.Gly210=)
NM_032638.5(GATA2):c.631G>A (p.Val211Ile)
NM_032638.5(GATA2):c.631G>T (p.Val211Phe)
NM_032638.5(GATA2):c.632T>C (p.Val211Ala) rs2107672235
NM_032638.5(GATA2):c.636G>T (p.Lys212Asn) rs1576748594
NM_032638.5(GATA2):c.637T>C (p.Tyr213His)
NM_032638.5(GATA2):c.63C>A (p.His21Gln) rs535362527
NM_032638.5(GATA2):c.643G>A (p.Val215Met)
NM_032638.5(GATA2):c.645G>A (p.Val215=)
NM_032638.5(GATA2):c.647C>T (p.Ser216Leu)
NM_032638.5(GATA2):c.649_653dup (p.Thr218_Glu219insTer) rs1553770949
NM_032638.5(GATA2):c.64C>A (p.Pro22Thr) rs1172590651
NM_032638.5(GATA2):c.64C>T (p.Pro22Ser) rs1172590651
NM_032638.5(GATA2):c.653C>A (p.Thr218Lys)
NM_032638.5(GATA2):c.653C>T (p.Thr218Met) rs2068690379
NM_032638.5(GATA2):c.656_675del (p.Glu219fs)
NM_032638.5(GATA2):c.657G>T (p.Glu219Asp) rs138688940
NM_032638.5(GATA2):c.65C>A (p.Pro22His) rs1430054108
NM_032638.5(GATA2):c.65C>G (p.Pro22Arg) rs1430054108
NM_032638.5(GATA2):c.65C>T (p.Pro22Leu) rs1430054108
NM_032638.5(GATA2):c.660C>T (p.Ser220=) rs2068689877
NM_032638.5(GATA2):c.661A>C (p.Met221Leu) rs1252930387
NM_032638.5(GATA2):c.663G>A (p.Met221Ile) rs2107672193
NM_032638.5(GATA2):c.663G>T (p.Met221Ile)
NM_032638.5(GATA2):c.666G>T (p.Lys222Asn)
NM_032638.5(GATA2):c.66C>T (p.Pro22=) rs113384352
NM_032638.5(GATA2):c.673A>G (p.Ser225Gly)
NM_032638.5(GATA2):c.674G>T (p.Ser225Ile) rs146116228
NM_032638.5(GATA2):c.675T>C (p.Ser225=)
NM_032638.5(GATA2):c.676G>A (p.Gly226Ser) rs2107672179
NM_032638.5(GATA2):c.677G>A (p.Gly226Asp) rs2107672176
NM_032638.5(GATA2):c.678C>G (p.Gly226=) rs2107672172
NM_032638.5(GATA2):c.678C>T (p.Gly226=) rs2107672172
NM_032638.5(GATA2):c.67G>T (p.Asp23Tyr) rs760183425
NM_032638.5(GATA2):c.682C>T (p.Pro228Ser) rs375298899
NM_032638.5(GATA2):c.683C>T (p.Pro228Leu)
NM_032638.5(GATA2):c.684C>A (p.Pro228=) rs913494641
NM_032638.5(GATA2):c.687G>A (p.Leu229=)
NM_032638.5(GATA2):c.688C>A (p.Arg230Ser) rs769473824
NM_032638.5(GATA2):c.688C>G (p.Arg230Gly) rs769473824
NM_032638.5(GATA2):c.688C>T (p.Arg230Cys) rs769473824
NM_032638.5(GATA2):c.689G>A (p.Arg230His) rs1265283318
NM_032638.5(GATA2):c.689G>T (p.Arg230Leu) rs1265283318
NM_032638.5(GATA2):c.695G>C (p.Gly232Ala) rs2068689323
NM_032638.5(GATA2):c.697C>G (p.Leu233Val) rs745497331
NM_032638.5(GATA2):c.697C>T (p.Leu233=)
NM_032638.5(GATA2):c.699A>G (p.Leu233=)
NM_032638.5(GATA2):c.69C>T (p.Asp23=)
NM_032638.5(GATA2):c.700G>A (p.Ala234Thr) rs776216814
NM_032638.5(GATA2):c.701C>G (p.Ala234Gly)
NM_032638.5(GATA2):c.702T>A (p.Ala234=)
NM_032638.5(GATA2):c.702T>C (p.Ala234=)
NM_032638.5(GATA2):c.703A>G (p.Thr235Ala)
NM_032638.5(GATA2):c.706A>C (p.Met236Leu) rs746737860
NM_032638.5(GATA2):c.706A>G (p.Met236Val) rs746737860
NM_032638.5(GATA2):c.706A>T (p.Met236Leu) rs746737860
NM_032638.5(GATA2):c.709G>A (p.Gly237Ser) rs2107672104
NM_032638.5(GATA2):c.70_71insTGT (p.Asp23_Ser24insLeu) rs1559988114
NM_032638.5(GATA2):c.711C>T (p.Gly237=)
NM_032638.5(GATA2):c.713C>A (p.Thr238Asn)
NM_032638.5(GATA2):c.715C>T (p.Gln239Ter)
NM_032638.5(GATA2):c.719C>T (p.Pro240Leu) rs2068688798
NM_032638.5(GATA2):c.71C>T (p.Ser24Leu) rs2068710194
NM_032638.5(GATA2):c.722C>T (p.Ala241Val) rs2068688771
NM_032638.5(GATA2):c.723T>G (p.Ala241=) rs1158861191
NM_032638.5(GATA2):c.727C>T (p.His243Tyr) rs1576748504
NM_032638.5(GATA2):c.729C>G (p.His243Gln) rs369673069
NM_032638.5(GATA2):c.72A>G (p.Ser24=) rs2107673658
NM_032638.5(GATA2):c.730C>A (p.His244Asn)
NM_032638.5(GATA2):c.732C>A (p.His244Gln) rs954005309
NM_032638.5(GATA2):c.732C>T (p.His244=) rs954005309
NM_032638.5(GATA2):c.733C>A (p.Pro245Thr)
NM_032638.5(GATA2):c.733C>T (p.Pro245Ser) rs2068688443
NM_032638.5(GATA2):c.734C>G (p.Pro245Arg) rs2107672060
NM_032638.5(GATA2):c.735C>T (p.Pro245=) rs2107672052
NM_032638.5(GATA2):c.739C>T (p.Pro247Ser) rs2107672045
NM_032638.5(GATA2):c.740C>G (p.Pro247Arg)
NM_032638.5(GATA2):c.740C>T (p.Pro247Leu) rs2068688361
NM_032638.5(GATA2):c.741C>T (p.Pro247=)
NM_032638.5(GATA2):c.742A>T (p.Thr248Ser) rs2068688330
NM_032638.5(GATA2):c.743C>T (p.Thr248Ile) rs1428619448
NM_032638.5(GATA2):c.744C>G (p.Thr248=)
NM_032638.5(GATA2):c.744C>T (p.Thr248=) rs2107672033
NM_032638.5(GATA2):c.748C>T (p.Pro250Ser) rs78245253
NM_032638.5(GATA2):c.750C>G (p.Pro250=)
NM_032638.5(GATA2):c.750C>T (p.Pro250=) rs2068688113
NM_032638.5(GATA2):c.751_752dup (p.Tyr252fs) rs2107672019
NM_032638.5(GATA2):c.753C>G (p.Ser251=)
NM_032638.5(GATA2):c.759G>C (p.Val253=)
NM_032638.5(GATA2):c.75C>G (p.His25Gln) rs1190021538
NM_032638.5(GATA2):c.75C>T (p.His25=) rs1190021538
NM_032638.5(GATA2):c.761C>G (p.Pro254Arg) rs387906630
NM_032638.5(GATA2):c.761del (p.Pro254fs)
NM_032638.5(GATA2):c.762G>T (p.Pro254=) rs200504378
NM_032638.5(GATA2):c.763_764delinsTT (p.Ala255Leu) rs2107671992
NM_032638.5(GATA2):c.764C>G (p.Ala255Gly) rs2068687757
NM_032638.5(GATA2):c.764C>T (p.Ala255Val) rs2068687757
NM_032638.5(GATA2):c.765G>A (p.Ala255=)
NM_032638.5(GATA2):c.76C>A (p.His26Asn) rs1576749889
NM_032638.5(GATA2):c.76C>T (p.His26Tyr)
NM_032638.5(GATA2):c.774C>A (p.His258Gln) rs1353328065
NM_032638.5(GATA2):c.774C>G (p.His258Gln) rs1353328065
NM_032638.5(GATA2):c.775G>A (p.Asp259Asn) rs768133841
NM_032638.5(GATA2):c.775G>C (p.Asp259His)
NM_032638.5(GATA2):c.776A>G (p.Asp259Gly) rs1239047306
NM_032638.5(GATA2):c.778T>C (p.Tyr260His) rs2107671963
NM_032638.5(GATA2):c.778_780del (p.Tyr260del) rs747128645
NM_032638.5(GATA2):c.779A>G (p.Tyr260Cys) rs1576748453
NM_032638.5(GATA2):c.77A>C (p.His26Pro)
NM_032638.5(GATA2):c.782G>A (p.Ser261Asn)
NM_032638.5(GATA2):c.782_783delinsCT (p.Ser261Thr) rs2107671953
NM_032638.5(GATA2):c.783_787dup (p.Gly263fs)
NM_032638.5(GATA2):c.784A>G (p.Ser262Gly)
NM_032638.5(GATA2):c.786C>G (p.Ser262Arg)
NM_032638.5(GATA2):c.788G>C (p.Gly263Ala) rs1330387746
NM_032638.5(GATA2):c.789A>C (p.Gly263=)
NM_032638.5(GATA2):c.78C>G (p.His26Gln) rs767260206
NM_032638.5(GATA2):c.78C>T (p.His26=) rs767260206
NM_032638.5(GATA2):c.790C>T (p.Leu264Phe) rs1559986980
NM_032638.5(GATA2):c.792C>T (p.Leu264=) rs1060503831
NM_032638.5(GATA2):c.795C>T (p.Phe265=)
NM_032638.5(GATA2):c.796C>T (p.His266Tyr)
NM_032638.5(GATA2):c.798C>A (p.His266Gln) rs866323045
NM_032638.5(GATA2):c.798C>T (p.His266=)
NM_032638.5(GATA2):c.7G>A (p.Val3Met) rs2107673805
NM_032638.5(GATA2):c.800C>A (p.Pro267His)
NM_032638.5(GATA2):c.800C>G (p.Pro267Arg) rs886057930
NM_032638.5(GATA2):c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC (p.Gly268fs)
NM_032638.5(GATA2):c.802G>A (p.Gly268Arg)
NM_032638.5(GATA2):c.802G>C (p.Gly268Arg) rs764747992
NM_032638.5(GATA2):c.802G>T (p.Gly268Ter) rs764747992
NM_032638.5(GATA2):c.803G>A (p.Gly268Glu) rs1576748419
NM_032638.5(GATA2):c.803G>T (p.Gly268Val) rs1576748419
NM_032638.5(GATA2):c.803_804insGGGCCACCCCGG (p.His266_Gly269dup) rs2068686773
NM_032638.5(GATA2):c.809T>G (p.Phe270Cys) rs776267955
NM_032638.5(GATA2):c.80C>G (p.Pro27Arg)
NM_032638.5(GATA2):c.80C>T (p.Pro27Leu)
NM_032638.5(GATA2):c.810C>G (p.Phe270Leu) rs2068686630
NM_032638.5(GATA2):c.811C>T (p.Leu271=) rs2068686585
NM_032638.5(GATA2):c.812dup (p.Pro274fs) rs2107671906
NM_032638.5(GATA2):c.813G>T (p.Leu271=)
NM_032638.5(GATA2):c.814G>A (p.Gly272Arg)
NM_032638.5(GATA2):c.814G>C (p.Gly272Arg) rs367955980
NM_032638.5(GATA2):c.814G>T (p.Gly272Trp)
NM_032638.5(GATA2):c.816G>C (p.Gly272=) rs2107671893
NM_032638.5(GATA2):c.818G>A (p.Gly273Glu) rs1559986940
NM_032638.5(GATA2):c.818G>T (p.Gly273Val) rs1559986940
NM_032638.5(GATA2):c.818dup (p.Pro274fs) rs1559986946
NM_032638.5(GATA2):c.819A>G (p.Gly273=) rs2107671880
NM_032638.5(GATA2):c.81G>A (p.Pro27=) rs1256606199
NM_032638.5(GATA2):c.822G>A (p.Pro274=) rs772881173
NM_032638.5(GATA2):c.822G>C (p.Pro274=)
NM_032638.5(GATA2):c.822G>T (p.Pro274=)
NM_032638.5(GATA2):c.82G>A (p.Gly28Ser)
NM_032638.5(GATA2):c.830G>A (p.Ser277Asn) rs1194571051
NM_032638.5(GATA2):c.832T>C (p.Phe278Leu)
NM_032638.5(GATA2):c.835A>T (p.Thr279Ser)
NM_032638.5(GATA2):c.836C>A (p.Thr279Asn)
NM_032638.5(GATA2):c.837C>A (p.Thr279=)
NM_032638.5(GATA2):c.839C>T (p.Pro280Leu)
NM_032638.5(GATA2):c.839dup (p.Pro280_Lys281insTer) rs1576748366
NM_032638.5(GATA2):c.83G>A (p.Gly28Asp)
NM_032638.5(GATA2):c.842A>G (p.Lys281Arg) rs2107671846
NM_032638.5(GATA2):c.843G>T (p.Lys281Asn) rs2068685897
NM_032638.5(GATA2):c.848G>A (p.Arg283His) rs1576748346
NM_032638.5(GATA2):c.849C>A (p.Arg283=)
NM_032638.5(GATA2):c.84C>T (p.Gly28=) rs761369956
NM_032638.5(GATA2):c.852C>T (p.Ser284=) rs1282036381
NM_032638.5(GATA2):c.855G>A (p.Lys285=) rs2107671832
NM_032638.5(GATA2):c.856G>C (p.Ala286Pro) rs1443864030
NM_032638.5(GATA2):c.856G>T (p.Ala286Ser) rs1443864030
NM_032638.5(GATA2):c.857C>G (p.Ala286Gly) rs797045592
NM_032638.5(GATA2):c.859C>T (p.Arg287Cys) rs2107671824
NM_032638.5(GATA2):c.85C>G (p.Leu29Val)
NM_032638.5(GATA2):c.85C>T (p.Leu29=)
NM_032638.5(GATA2):c.860G>A (p.Arg287His) rs1004873472
NM_032638.5(GATA2):c.866G>A (p.Cys289Tyr)
NM_032638.5(GATA2):c.866G>C (p.Cys289Ser)
NM_032638.5(GATA2):c.866G>T (p.Cys289Phe)
NM_032638.5(GATA2):c.871+10G>C rs2107671791
NM_032638.5(GATA2):c.871+12T>A rs1576748317
NM_032638.5(GATA2):c.871+17G>C rs2107671788
NM_032638.5(GATA2):c.871+18G>T
NM_032638.5(GATA2):c.871+19G>A
NM_032638.5(GATA2):c.871+1G>A
NM_032638.5(GATA2):c.871+4A>G rs2068685346
NM_032638.5(GATA2):c.871+5A>G
NM_032638.5(GATA2):c.871+8C>T rs2068685256
NM_032638.5(GATA2):c.872-11T>C rs2107670517
NM_032638.5(GATA2):c.872-13T>C
NM_032638.5(GATA2):c.872-14dup
NM_032638.5(GATA2):c.872-18C>G
NM_032638.5(GATA2):c.872-18C>T rs2107670522
NM_032638.5(GATA2):c.872-1G>C rs2068663163
NM_032638.5(GATA2):c.872-23_872-16dup
NM_032638.5(GATA2):c.872-24_872-20dup rs772332162
NM_032638.5(GATA2):c.872-5T>G rs886038417
NM_032638.5(GATA2):c.872-7C>T rs2068663253
NM_032638.5(GATA2):c.872-9C>A rs1462260680
NM_032638.5(GATA2):c.872-9C>G
NM_032638.5(GATA2):c.874G>A (p.Gly292Ser)
NM_032638.5(GATA2):c.877C>T (p.Arg293Trp)
NM_032638.5(GATA2):c.878G>A (p.Arg293Gln) rs2068663016
NM_032638.5(GATA2):c.879G>A (p.Arg293=)
NM_032638.5(GATA2):c.87G>A (p.Leu29=)
NM_032638.5(GATA2):c.886G>A (p.Val296Ile)
NM_032638.5(GATA2):c.890A>G (p.Asn297Ser)
NM_032638.5(GATA2):c.890_903dup (p.Ala302fs) rs1559986109
NM_032638.5(GATA2):c.891C>T (p.Asn297=) rs2107670485
NM_032638.5(GATA2):c.897G>T (p.Gly299=)
NM_032638.5(GATA2):c.898G>A (p.Ala300Thr)
NM_032638.5(GATA2):c.902C>G (p.Thr301Arg) rs1559986113
NM_032638.5(GATA2):c.903A>G (p.Thr301=) rs1420799186
NM_032638.5(GATA2):c.905C>T (p.Ala302Val) rs1237462942
NM_032638.5(GATA2):c.906C>T (p.Ala302=)
NM_032638.5(GATA2):c.909C>G (p.Thr303=) rs755602075
NM_032638.5(GATA2):c.909C>T (p.Thr303=)
NM_032638.5(GATA2):c.910C>A (p.Pro304Thr)
NM_032638.5(GATA2):c.911C>A (p.Pro304His)
NM_032638.5(GATA2):c.913C>G (p.Leu305Val)
NM_032638.5(GATA2):c.914T>C (p.Leu305Pro)
NM_032638.5(GATA2):c.915C>G (p.Leu305=) rs2107670469
NM_032638.5(GATA2):c.91C>T (p.His31Tyr) rs2107673607
NM_032638.5(GATA2):c.920G>A (p.Arg307Gln) rs1559986102
NM_032638.5(GATA2):c.921G>A (p.Arg307=) rs2107670458
NM_032638.5(GATA2):c.930C>T (p.Gly310=)
NM_032638.5(GATA2):c.931A>T (p.Thr311Ser)
NM_032638.5(GATA2):c.933C>T (p.Thr311=) rs774280897
NM_032638.5(GATA2):c.93C>G (p.His31Gln) rs1010470274
NM_032638.5(GATA2):c.93C>T (p.His31=) rs1010470274
NM_032638.5(GATA2):c.940T>C (p.Tyr314His)
NM_032638.5(GATA2):c.942C>T (p.Tyr314=) rs2107670420
NM_032638.5(GATA2):c.943C>T (p.Leu315=) rs2068661853
NM_032638.5(GATA2):c.949A>G (p.Asn317Asp)
NM_032638.5(GATA2):c.950A>G (p.Asn317Ser) rs2068661734
NM_032638.5(GATA2):c.953C>T (p.Ala318Val)
NM_032638.5(GATA2):c.95A>G (p.Asn32Ser)
NM_032638.5(GATA2):c.961C>T (p.Leu321Phe)
NM_032638.5(GATA2):c.963C>G (p.Leu321=) rs2107670374
NM_032638.5(GATA2):c.963C>T (p.Leu321=) rs2107670374
NM_032638.5(GATA2):c.965A>G (p.Tyr322Cys)
NM_032638.5(GATA2):c.967C>T (p.His323Tyr)
NM_032638.5(GATA2):c.967_969del (p.His323del)
NM_032638.5(GATA2):c.968A>G (p.His323Arg) rs1442352352
NM_032638.5(GATA2):c.971del (p.Lys324fs) rs1576746862
NM_032638.5(GATA2):c.972G>A (p.Lys324=)
NM_032638.5(GATA2):c.975G>A (p.Met325Ile) rs2107670355
NM_032638.5(GATA2):c.981G>A (p.Gly327=) rs2068661291
NM_032638.5(GATA2):c.988C>T (p.Arg330Ter) rs1576746847
NM_032638.5(GATA2):c.989G>A (p.Arg330Gln)
NM_032638.5(GATA2):c.98A>G (p.Tyr33Cys)
NM_032638.5(GATA2):c.993A>G (p.Pro331=)
NM_032638.5(GATA2):c.995T>C (p.Leu332Pro)
NM_032638.5(GATA2):c.996C>A (p.Leu332=)
NM_032638.5(GATA2):c.997A>G (p.Ile333Val) rs2107670322
NM_032638.5(GATA2):c.999C>A (p.Ile333=)
NM_032638.5(GATA2):c.99C>A (p.Tyr33Ter)
NM_032638.5(GATA2):c.99C>T (p.Tyr33=)
NM_183235.3(RAB27A):c.112T>C (p.Phe38Leu)
NM_183235.3(RAB27A):c.117C>A (p.Ile39=)
NM_183235.3(RAB27A):c.121A>C (p.Thr41Pro) rs1896186645
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645
NM_183235.3(RAB27A):c.147A>G (p.Lys49=)
NM_183235.3(RAB27A):c.147_148del (p.Arg50fs)
NM_183235.3(RAB27A):c.153+14C>A
NM_183235.3(RAB27A):c.153+20A>C
NM_183235.3(RAB27A):c.153G>A (p.Val51=) rs1331587655
NM_183235.3(RAB27A):c.154-6T>A rs1895989137
NM_183235.3(RAB27A):c.154-7G>A
NM_183235.3(RAB27A):c.154-7G>C
NM_183235.3(RAB27A):c.15T>C (p.Asp5=) rs952920589
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.174G>A (p.Pro58=) rs910190895
NM_183235.3(RAB27A):c.181G>C (p.Ala61Pro)
NM_183235.3(RAB27A):c.187G>T (p.Gly63Cys) rs1895985830
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.192A>G (p.Arg64=)
NM_183235.3(RAB27A):c.195C>G (p.Gly65=) rs897453247
NM_183235.3(RAB27A):c.220G>C (p.Asp74His)
NM_183235.3(RAB27A):c.229G>A (p.Gly77Arg)
NM_183235.3(RAB27A):c.239+19T>C rs1481724263
NM_183235.3(RAB27A):c.239+19T>G
NM_183235.3(RAB27A):c.239+3A>G rs1595695268
NM_183235.3(RAB27A):c.239+4T>G
NM_183235.3(RAB27A):c.239+5G>C rs1269990628
NM_183235.3(RAB27A):c.239+9T>A
NM_183235.3(RAB27A):c.239+9T>C
NM_183235.3(RAB27A):c.240-14T>A
NM_183235.3(RAB27A):c.240-15C>A
NM_183235.3(RAB27A):c.240-16G>A
NM_183235.3(RAB27A):c.240-17T>G
NM_183235.3(RAB27A):c.240-19T>A
NM_183235.3(RAB27A):c.240-2A>C
NM_183235.3(RAB27A):c.240-47_240delinsTATTTCATACGAAATTTATA
NM_183235.3(RAB27A):c.240-5C>T rs750942183
NM_183235.3(RAB27A):c.240-6T>G rs1895913515
NM_183235.3(RAB27A):c.240-8G>A rs928130000
NM_183235.3(RAB27A):c.240-9T>C rs758629648
NM_183235.3(RAB27A):c.251dup (p.Leu84fs) rs1895911610
NM_183235.3(RAB27A):c.254C>T (p.Thr85Met)
NM_183235.3(RAB27A):c.255G>A (p.Thr85=) rs147130708
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.259G>T (p.Ala87Ser)
NM_183235.3(RAB27A):c.260C>T (p.Ala87Val) rs201697259
NM_183235.3(RAB27A):c.273T>G (p.Asp91Glu)
NM_183235.3(RAB27A):c.288T>C (p.Leu96=)
NM_183235.3(RAB27A):c.289C>T (p.Leu97=) rs1354193730
NM_183235.3(RAB27A):c.295T>C (p.Phe99Leu) rs1371541124
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_183235.3(RAB27A):c.307A>C (p.Asn103His) rs144492641
NM_183235.3(RAB27A):c.309T>C (p.Asn103=)
NM_183235.3(RAB27A):c.327T>C (p.Asn109=)
NM_183235.3(RAB27A):c.331A>G (p.Arg111Gly) rs2140972816
NM_183235.3(RAB27A):c.335del (p.Asn112fs) rs756644243
NM_183235.3(RAB27A):c.337T>C (p.Trp113Arg)
NM_183235.3(RAB27A):c.33G>A (p.Lys11=)
NM_183235.3(RAB27A):c.342A>T (p.Ile114=) rs1895903776
NM_183235.3(RAB27A):c.343+10A>G
NM_183235.3(RAB27A):c.343+11T>C
NM_183235.3(RAB27A):c.343+17C>T
NM_183235.3(RAB27A):c.343+3A>G rs1895903423
NM_183235.3(RAB27A):c.343+3_343+6del rs886051317
NM_183235.3(RAB27A):c.343+6del rs1277146219
NM_183235.3(RAB27A):c.344-18A>G
NM_183235.3(RAB27A):c.344-7T>C
NM_183235.3(RAB27A):c.345C>T (p.Ser115=)
NM_183235.3(RAB27A):c.351A>G (p.Leu117=)
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
NM_183235.3(RAB27A):c.355A>G (p.Met119Val)
NM_183235.3(RAB27A):c.35T>C (p.Phe12Ser)
NM_183235.3(RAB27A):c.365A>T (p.Tyr122Phe) rs1259290779
NM_183235.3(RAB27A):c.368G>A (p.Cys123Tyr)
NM_183235.3(RAB27A):c.377del (p.Pro126fs) rs1895696380
NM_183235.3(RAB27A):c.379G>A (p.Asp127Asn) rs2140958807
NM_183235.3(RAB27A):c.390G>A (p.Leu130=)
NM_183235.3(RAB27A):c.396A>G (p.Gly132=)
NM_183235.3(RAB27A):c.400A>G (p.Lys134Glu) rs2140958637
NM_183235.3(RAB27A):c.404G>A (p.Ser135Asn)
NM_183235.3(RAB27A):c.41C>A (p.Ala14Asp)
NM_183235.3(RAB27A):c.423_424del (p.Arg141fs) rs766575263
NM_183235.3(RAB27A):c.425T>C (p.Val142Ala) rs569221128
NM_183235.3(RAB27A):c.427G>A (p.Val143Met)
NM_183235.3(RAB27A):c.428T>C (p.Val143Ala)
NM_183235.3(RAB27A):c.431A>G (p.Lys144Arg)
NM_183235.3(RAB27A):c.435GGA[1] (p.Glu147del) rs758624653
NM_183235.3(RAB27A):c.438G>A (p.Glu146=)
NM_183235.3(RAB27A):c.439G>T (p.Glu147Ter) rs75258234
NM_183235.3(RAB27A):c.445A>G (p.Ile149Val) rs1197622697
NM_183235.3(RAB27A):c.460A>T (p.Lys154Ter) rs2140958324
NM_183235.3(RAB27A):c.465T>A (p.Tyr155Ter)
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_183235.3(RAB27A):c.467+1G>T
NM_183235.3(RAB27A):c.467+4A>T
NM_183235.3(RAB27A):c.468-14T>C
NM_183235.3(RAB27A):c.468-25_468-14del
NM_183235.3(RAB27A):c.468-7C>A
NM_183235.3(RAB27A):c.476A>G (p.Tyr159Cys)
NM_183235.3(RAB27A):c.489T>C (p.Ser163=) rs2140891719
NM_183235.3(RAB27A):c.498T>G (p.Asn166Lys) rs1894613403
NM_183235.3(RAB27A):c.514C>T (p.Gln172Ter)
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_183235.3(RAB27A):c.519A>G (p.Ala173=) rs1566893120
NM_183235.3(RAB27A):c.529C>T (p.Leu177Phe) rs2140891385
NM_183235.3(RAB27A):c.532C>T (p.Leu178=)
NM_183235.3(RAB27A):c.53_54del (p.Ser18fs) rs1595700039
NM_183235.3(RAB27A):c.542T>A (p.Ile181Lys)
NM_183235.3(RAB27A):c.561G>A (p.Arg187=)
NM_183235.3(RAB27A):c.568G>A (p.Asp190Asn)
NM_183235.3(RAB27A):c.57T>C (p.Gly19=)
NM_183235.3(RAB27A):c.592G>T (p.Val198Leu)
NM_183235.3(RAB27A):c.593T>C (p.Val198Ala) rs554967424
NM_183235.3(RAB27A):c.597G>A (p.Val199=) rs1894604106
NM_183235.3(RAB27A):c.612T>C (p.His204=)
NM_183235.3(RAB27A):c.613G>T (p.Ala205Ser) rs928880499
NM_183235.3(RAB27A):c.619dup (p.Thr207fs)
NM_183235.3(RAB27A):c.638_642del (p.Glu213fs)
NM_183235.3(RAB27A):c.662G>A (p.Cys221Tyr)
NM_183235.3(RAB27A):c.87T>C (p.Tyr29=)
NM_183235.3(RAB27A):c.91G>A (p.Asp31Asn)
NM_183235.3(RAB27A):c.93T>C (p.Asp31=)
NM_183235.3(RAB27A):c.96T>C (p.Gly32=)
NM_199242.3(UNC13D):c.1002C>T (p.Val334=)
NM_199242.3(UNC13D):c.1008T>A (p.Phe336Leu)
NM_199242.3(UNC13D):c.1008T>C (p.Phe336=) rs746042735
NM_199242.3(UNC13D):c.1012C>T (p.His338Tyr)
NM_199242.3(UNC13D):c.1017C>G (p.Ala339=)
NM_199242.3(UNC13D):c.1024A>G (p.Lys342Glu)
NM_199242.3(UNC13D):c.1026G>C (p.Lys342Asn)
NM_199242.3(UNC13D):c.102C>A (p.Pro34=)
NM_199242.3(UNC13D):c.102C>T (p.Pro34=)
NM_199242.3(UNC13D):c.1030C>T (p.Leu344=)
NM_199242.3(UNC13D):c.1035C>G (p.Ser345=)
NM_199242.3(UNC13D):c.1035C>T (p.Ser345=)
NM_199242.3(UNC13D):c.1044C>T (p.His348=) rs2143891267
NM_199242.3(UNC13D):c.1045C>T (p.Gln349Ter)
NM_199242.3(UNC13D):c.1048T>C (p.Ser350Pro) rs1364911644
NM_199242.3(UNC13D):c.1049C>T (p.Ser350Phe) rs2064934780
NM_199242.3(UNC13D):c.1051A>G (p.Met351Val)
NM_199242.3(UNC13D):c.1052T>C (p.Met351Thr)
NM_199242.3(UNC13D):c.1055+13C>G
NM_199242.3(UNC13D):c.1055+15C>T
NM_199242.3(UNC13D):c.1055+16T>C
NM_199242.3(UNC13D):c.1055+17G>T rs1156884456
NM_199242.3(UNC13D):c.1055+3G>A
NM_199242.3(UNC13D):c.1055C>A (p.Ala352Glu) rs532376208
NM_199242.3(UNC13D):c.1056-13C>A
NM_199242.3(UNC13D):c.1056-14C>T
NM_199242.3(UNC13D):c.1056-4G>T
NM_199242.3(UNC13D):c.1056-9C>A
NM_199242.3(UNC13D):c.1056-9C>T
NM_199242.3(UNC13D):c.105A>G (p.Gln35=)
NM_199242.3(UNC13D):c.1065G>T (p.Leu355=)
NM_199242.3(UNC13D):c.1071C>T (p.Tyr357=)
NM_199242.3(UNC13D):c.1072dup (p.Ser358fs) rs2143883327
NM_199242.3(UNC13D):c.1076G>T (p.Arg359Leu) rs146611729
NM_199242.3(UNC13D):c.1077C>T (p.Arg359=)
NM_199242.3(UNC13D):c.1092G>A (p.Leu364=)
NM_199242.3(UNC13D):c.1106G>A (p.Ser369Asn) rs1192412855
NM_199242.3(UNC13D):c.1110C>T (p.Cys370=)
NM_199242.3(UNC13D):c.1116G>A (p.Leu372=)
NM_199242.3(UNC13D):c.111C>T (p.Ala37=)
NM_199242.3(UNC13D):c.1137G>A (p.Glu379=)
NM_199242.3(UNC13D):c.113C>G (p.Pro38Arg) rs202020609
NM_199242.3(UNC13D):c.113C>T (p.Pro38Leu) rs202020609
NM_199242.3(UNC13D):c.1167A>C (p.Ala389=) rs2143883000
NM_199242.3(UNC13D):c.1167A>G (p.Ala389=)
NM_199242.3(UNC13D):c.117+17T>C
NM_199242.3(UNC13D):c.117+18G>A
NM_199242.3(UNC13D):c.117+19G>A
NM_199242.3(UNC13D):c.117+1G>A
NM_199242.3(UNC13D):c.117+4_117+7dup rs1332124785
NM_199242.3(UNC13D):c.1173+10C>G rs376856418
NM_199242.3(UNC13D):c.1173+11A>G
NM_199242.3(UNC13D):c.1173+14G>A
NM_199242.3(UNC13D):c.1173+16C>T
NM_199242.3(UNC13D):c.1173+17A>G
NM_199242.3(UNC13D):c.1173+1G>A
NM_199242.3(UNC13D):c.1173+9G>A
NM_199242.3(UNC13D):c.1174-12C>T
NM_199242.3(UNC13D):c.1174-15del
NM_199242.3(UNC13D):c.1174-3C>G
NM_199242.3(UNC13D):c.1174-6C>G
NM_199242.3(UNC13D):c.1174-9G>A
NM_199242.3(UNC13D):c.1179G>A (p.Glu393=)
NM_199242.3(UNC13D):c.117G>A (p.Glu39=)
NM_199242.3(UNC13D):c.118-14A>G
NM_199242.3(UNC13D):c.118-15C>T
NM_199242.3(UNC13D):c.118-19T>G
NM_199242.3(UNC13D):c.118-307G>A rs1019391145
NM_199242.3(UNC13D):c.118-4G>T
NM_199242.3(UNC13D):c.118-6C>T
NM_199242.3(UNC13D):c.1182G>A (p.Glu394=)
NM_199242.3(UNC13D):c.1188C>T (p.Ala396=)
NM_199242.3(UNC13D):c.1191C>T (p.Ala397=)
NM_199242.3(UNC13D):c.1193C>T (p.Ser398Leu) rs747756030
NM_199242.3(UNC13D):c.1194A>C (p.Ser398=)
NM_199242.3(UNC13D):c.1194A>G (p.Ser398=)
NM_199242.3(UNC13D):c.1199G>A (p.Ser400Asn)
NM_199242.3(UNC13D):c.1201_1202delinsAA (p.Ser401Asn) rs2064911558
NM_199242.3(UNC13D):c.1203C>A (p.Ser401=)
NM_199242.3(UNC13D):c.1204C>T (p.Leu402=) rs568125844
NM_199242.3(UNC13D):c.1229T>C (p.Ile410Thr) rs2143882443
NM_199242.3(UNC13D):c.1236G>A (p.Arg412=)
NM_199242.3(UNC13D):c.1236G>C (p.Arg412Ser) rs764771345
NM_199242.3(UNC13D):c.1239C>T (p.Phe413=)
NM_199242.3(UNC13D):c.1241G>A (p.Arg414His) rs768171054
NM_199242.3(UNC13D):c.1241G>T (p.Arg414Leu)
NM_199242.3(UNC13D):c.1242C>A (p.Arg414=)
NM_199242.3(UNC13D):c.1242C>T (p.Arg414=)
NM_199242.3(UNC13D):c.1246_1258dup (p.Ser420fs)
NM_199242.3(UNC13D):c.1251C>T (p.Phe417=)
NM_199242.3(UNC13D):c.1254C>G (p.Pro418=)
NM_199242.3(UNC13D):c.1254C>T (p.Pro418=)
NM_199242.3(UNC13D):c.1255C>A (p.Leu419Ile)
NM_199242.3(UNC13D):c.1255C>G (p.Leu419Val)
NM_199242.3(UNC13D):c.1255C>T (p.Leu419Phe) rs746314361
NM_199242.3(UNC13D):c.1260T>C (p.Ser420=)
NM_199242.3(UNC13D):c.1265C>T (p.Ser422Leu)
NM_199242.3(UNC13D):c.1266G>A (p.Ser422=) rs749317896
NM_199242.3(UNC13D):c.1266_1271del (p.Asp423_Ser424del) rs2064910679
NM_199242.3(UNC13D):c.1275A>C (p.Pro425=)
NM_199242.3(UNC13D):c.1280G>A (p.Arg427Gln)
NM_199242.3(UNC13D):c.1283T>G (p.Leu428Arg)
NM_199242.3(UNC13D):c.1284G>A (p.Leu428=)
NM_199242.3(UNC13D):c.1296C>T (p.Leu432=)
NM_199242.3(UNC13D):c.1298+13C>G
NM_199242.3(UNC13D):c.1298+13C>T
NM_199242.3(UNC13D):c.1298+19C>T
NM_199242.3(UNC13D):c.1298+2T>C
NM_199242.3(UNC13D):c.1298G>A (p.Arg433Lys)
NM_199242.3(UNC13D):c.1299-15C>G
NM_199242.3(UNC13D):c.1299-15_1299-14del
NM_199242.3(UNC13D):c.1299-17C>G
NM_199242.3(UNC13D):c.1299-4G>T
NM_199242.3(UNC13D):c.1299-7C>T
NM_199242.3(UNC13D):c.1299-8T>C
NM_199242.3(UNC13D):c.1299-9A>G
NM_199242.3(UNC13D):c.1299G>C (p.Arg433Ser) rs372314255
NM_199242.3(UNC13D):c.1311G>T (p.Gln437His)
NM_199242.3(UNC13D):c.1327G>T (p.Ala443Ser) rs759944295
NM_199242.3(UNC13D):c.1332T>C (p.Phe444=)
NM_199242.3(UNC13D):c.1333G>A (p.Gly445Arg)
NM_199242.3(UNC13D):c.1336G>A (p.Glu446Lys)
NM_199242.3(UNC13D):c.1338A>G (p.Glu446=)
NM_199242.3(UNC13D):c.1344C>T (p.Cys448=)
NM_199242.3(UNC13D):c.1346C>G (p.Pro449Arg) rs1051792709
NM_199242.3(UNC13D):c.1353C>T (p.Thr451=)
NM_199242.3(UNC13D):c.1354G>A (p.Ala452Thr)
NM_199242.3(UNC13D):c.1358del (p.Pro453fs)
NM_199242.3(UNC13D):c.1363C>T (p.Pro455Ser) rs2143881541
NM_199242.3(UNC13D):c.1364C>A (p.Pro455His)
NM_199242.3(UNC13D):c.1380G>A (p.Glu460=)
NM_199242.3(UNC13D):c.1383C>T (p.Ala461=)
NM_199242.3(UNC13D):c.1387C>T (p.Gln463Ter)
NM_199242.3(UNC13D):c.1388A>C (p.Gln463Pro)
NM_199242.3(UNC13D):c.1389+10T>C
NM_199242.3(UNC13D):c.1389+11C>T
NM_199242.3(UNC13D):c.1389+16T>A
NM_199242.3(UNC13D):c.1389+16T>C
NM_199242.3(UNC13D):c.1389+18G>A rs2143881408
NM_199242.3(UNC13D):c.1389+6G>A rs2143881463
NM_199242.3(UNC13D):c.1390-11T>G
NM_199242.3(UNC13D):c.1390-14C>T
NM_199242.3(UNC13D):c.1390-19A>G
NM_199242.3(UNC13D):c.1390-20C>T
NM_199242.3(UNC13D):c.1390-5G>A
NM_199242.3(UNC13D):c.1390-6C>G
NM_199242.3(UNC13D):c.1391C>T (p.Thr464Ile)
NM_199242.3(UNC13D):c.1393G>A (p.Gly465Ser)
NM_199242.3(UNC13D):c.1398C>T (p.Thr466=)
NM_199242.3(UNC13D):c.1408T>C (p.Phe470Leu) rs886053423
NM_199242.3(UNC13D):c.1414C>T (p.Leu472=) rs151134723
NM_199242.3(UNC13D):c.141C>T (p.Phe47=)
NM_199242.3(UNC13D):c.1428C>T (p.His476=)
NM_199242.3(UNC13D):c.1437C>A (p.Pro479=)
NM_199242.3(UNC13D):c.1443G>A (p.Val481=)
NM_199242.3(UNC13D):c.1446+11G>T
NM_199242.3(UNC13D):c.1446+14C>T
NM_199242.3(UNC13D):c.1446+18G>A
NM_199242.3(UNC13D):c.1446+20G>A
NM_199242.3(UNC13D):c.1447-10G>A
NM_199242.3(UNC13D):c.1447-17C>A
NM_199242.3(UNC13D):c.1447-17C>T rs375860793
NM_199242.3(UNC13D):c.1447-4G>A
NM_199242.3(UNC13D):c.1447-4G>T
NM_199242.3(UNC13D):c.1447-6C>T
NM_199242.3(UNC13D):c.1448G>A (p.Gly483Asp)
NM_199242.3(UNC13D):c.1449C>A (p.Gly483=)
NM_199242.3(UNC13D):c.1452C>A (p.Ile484=)
NM_199242.3(UNC13D):c.1454C>T (p.Pro485Leu) rs550974990
NM_199242.3(UNC13D):c.1455G>A (p.Pro485=)
NM_199242.3(UNC13D):c.1458G>A (p.Glu486=)
NM_199242.3(UNC13D):c.1472T>A (p.Leu491Ter) rs1555601754
NM_199242.3(UNC13D):c.1474C>T (p.Leu492=) rs1459099488
NM_199242.3(UNC13D):c.147C>G (p.Pro49=) rs749672259
NM_199242.3(UNC13D):c.147C>T (p.Pro49=) rs749672259
NM_199242.3(UNC13D):c.1482G>C (p.Leu494=)
NM_199242.3(UNC13D):c.1486C>T (p.Gln496Ter)
NM_199242.3(UNC13D):c.1487A>G (p.Gln496Arg) rs2143880587
NM_199242.3(UNC13D):c.148G>A (p.Glu50Lys)
NM_199242.3(UNC13D):c.148G>T (p.Glu50Ter)
NM_199242.3(UNC13D):c.1501G>A (p.Asp501Asn)
NM_199242.3(UNC13D):c.150G>A (p.Glu50=)
NM_199242.3(UNC13D):c.151C>T (p.Gln51Ter)
NM_199242.3(UNC13D):c.1521C>T (p.Arg507=)
NM_199242.3(UNC13D):c.1524A>G (p.Thr508=) rs998868036
NM_199242.3(UNC13D):c.153+10dup
NM_199242.3(UNC13D):c.153+14_153+28del rs2064964147
NM_199242.3(UNC13D):c.153+17T>C
NM_199242.3(UNC13D):c.153+1G>A
NM_199242.3(UNC13D):c.153+20G>C
NM_199242.3(UNC13D):c.153+8_153+11del
NM_199242.3(UNC13D):c.1533G>T (p.Lys511Asn) rs2064906221
NM_199242.3(UNC13D):c.1539C>T (p.Phe513=)
NM_199242.3(UNC13D):c.154-10T>C
NM_199242.3(UNC13D):c.154-11G>A
NM_199242.3(UNC13D):c.154-11G>C
NM_199242.3(UNC13D):c.154-17G>T
NM_199242.3(UNC13D):c.154-1G>T
NM_199242.3(UNC13D):c.154-9G>A rs2064962405
NM_199242.3(UNC13D):c.1542C>T (p.His514=)
NM_199242.3(UNC13D):c.1544+10T>C
NM_199242.3(UNC13D):c.1544+20G>A
NM_199242.3(UNC13D):c.1544+20G>C
NM_199242.3(UNC13D):c.1545-10T>C
NM_199242.3(UNC13D):c.1545-12C>G
NM_199242.3(UNC13D):c.1545-13G>C
NM_199242.3(UNC13D):c.1545-15C>T
NM_199242.3(UNC13D):c.1545-16G>C
NM_199242.3(UNC13D):c.1545-19C>A
NM_199242.3(UNC13D):c.1545-19C>G
NM_199242.3(UNC13D):c.1545-2A>G rs766615729
NM_199242.3(UNC13D):c.1545-4C>A rs2143880120
NM_199242.3(UNC13D):c.1545-4C>T
NM_199242.3(UNC13D):c.1545-8T>C
NM_199242.3(UNC13D):c.1548C>G (p.Thr516=)
NM_199242.3(UNC13D):c.1548C>T (p.Thr516=)
NM_199242.3(UNC13D):c.154C>T (p.Arg52Trp)
NM_199242.3(UNC13D):c.1562T>C (p.Leu521Pro)
NM_199242.3(UNC13D):c.1563C>T (p.Leu521=)
NM_199242.3(UNC13D):c.1566C>T (p.Phe522=)
NM_199242.3(UNC13D):c.1574C>T (p.Ala525Val) rs2064905120
NM_199242.3(UNC13D):c.1575T>C (p.Ala525=)
NM_199242.3(UNC13D):c.1590G>A (p.Gln530=)
NM_199242.3(UNC13D):c.1596+11C>A rs543412754
NM_199242.3(UNC13D):c.1596+11C>G
NM_199242.3(UNC13D):c.1596+12C>T
NM_199242.3(UNC13D):c.1596+13C>T
NM_199242.3(UNC13D):c.1596+13_1596+15del
NM_199242.3(UNC13D):c.1596+15C>G rs574478720
NM_199242.3(UNC13D):c.1596+15C>T
NM_199242.3(UNC13D):c.1596+15dup
NM_199242.3(UNC13D):c.1596+18C>T
NM_199242.3(UNC13D):c.1596+1del
NM_199242.3(UNC13D):c.1596+9del
NM_199242.3(UNC13D):c.1597-10T>A
NM_199242.3(UNC13D):c.1597-13C>T
NM_199242.3(UNC13D):c.1597-17A>G
NM_199242.3(UNC13D):c.1599G>A (p.Val533=)
NM_199242.3(UNC13D):c.1606C>A (p.Arg536=)
NM_199242.3(UNC13D):c.1606C>G (p.Arg536Gly) rs780530249
NM_199242.3(UNC13D):c.1607G>A (p.Arg536Gln) rs143305366
NM_199242.3(UNC13D):c.1607G>T (p.Arg536Leu) rs143305366
NM_199242.3(UNC13D):c.1609G>A (p.Val537Met)
NM_199242.3(UNC13D):c.160del (p.Leu54fs)
NM_199242.3(UNC13D):c.1621_1622del (p.Thr541fs)
NM_199242.3(UNC13D):c.1629T>C (p.Val543=) rs2143879473
NM_199242.3(UNC13D):c.1637A>G (p.Asp546Gly)
NM_199242.3(UNC13D):c.1643T>C (p.Val548Ala)
NM_199242.3(UNC13D):c.1644G>A (p.Val548=)
NM_199242.3(UNC13D):c.1650del (p.Glu551fs) rs1442964152
NM_199242.3(UNC13D):c.1655T>C (p.Met552Thr)
NM_199242.3(UNC13D):c.1661A>G (p.Glu554Gly)
NM_199242.3(UNC13D):c.1663_1664del (p.Leu556fs)
NM_199242.3(UNC13D):c.1668G>A (p.Leu556=)
NM_199242.3(UNC13D):c.1681A>G (p.Ile561Val)
NM_199242.3(UNC13D):c.168C>T (p.Tyr56=)
NM_199242.3(UNC13D):c.169_172del (p.Glu57fs)
NM_199242.3(UNC13D):c.1701C>T (p.Cys567=)
NM_199242.3(UNC13D):c.170del (p.Glu57fs)
NM_199242.3(UNC13D):c.1712T>G (p.Met571Arg) rs2143879204
NM_199242.3(UNC13D):c.1715G>C (p.Ser572Thr) rs894427230
NM_199242.3(UNC13D):c.1721C>G (p.Ser574Ter)
NM_199242.3(UNC13D):c.1722A>G (p.Ser574=)
NM_199242.3(UNC13D):c.1727+15A>G
NM_199242.3(UNC13D):c.1727+16A>G
NM_199242.3(UNC13D):c.1727+17T>C
NM_199242.3(UNC13D):c.1727+18T>C
NM_199242.3(UNC13D):c.1727+20T>C
NM_199242.3(UNC13D):c.1728-12G>C
NM_199242.3(UNC13D):c.1728-13C>G
NM_199242.3(UNC13D):c.1728-13C>T rs745855631
NM_199242.3(UNC13D):c.1728-15C>A
NM_199242.3(UNC13D):c.1728-2A>C
NM_199242.3(UNC13D):c.1728-4C>T
NM_199242.3(UNC13D):c.1728-5C>T
NM_199242.3(UNC13D):c.1744C>G (p.Leu582Val)
NM_199242.3(UNC13D):c.174C>T (p.Asp58=)
NM_199242.3(UNC13D):c.1758C>T (p.His586=) rs759891490
NM_199242.3(UNC13D):c.1760G>T (p.Arg587Leu) rs201600711
NM_199242.3(UNC13D):c.1763G>A (p.Trp588Ter)
NM_199242.3(UNC13D):c.1768C>T (p.Gln590Ter) rs1567818774
NM_199242.3(UNC13D):c.1773G>A (p.Pro591=) rs367988204
NM_199242.3(UNC13D):c.1779C>T (p.Ile593=)
NM_199242.3(UNC13D):c.177A>G (p.Ala59=)
NM_199242.3(UNC13D):c.177_178del (p.Tyr61fs) rs1234936765
NM_199242.3(UNC13D):c.1781C>T (p.Pro594Leu) rs1397601840
NM_199242.3(UNC13D):c.1782C>A (p.Pro594=)
NM_199242.3(UNC13D):c.178C>T (p.Leu60Phe)
NM_199242.3(UNC13D):c.1791G>A (p.Leu597=)
NM_199242.3(UNC13D):c.1792C>T (p.Gln598Ter) rs1422897832
NM_199242.3(UNC13D):c.1799C>A (p.Thr600Lys)
NM_199242.3(UNC13D):c.17C>T (p.Ser6Phe) rs2143904920
NM_199242.3(UNC13D):c.1800G>A (p.Thr600=)
NM_199242.3(UNC13D):c.1806C>T (p.Asn602=)
NM_199242.3(UNC13D):c.1807G>A (p.Glu603Lys)
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter) rs755348845
NM_199242.3(UNC13D):c.180C>G (p.Leu60=)
NM_199242.3(UNC13D):c.1818G>T (p.Ala606=)
NM_199242.3(UNC13D):c.1819C>T (p.Arg607Trp) rs374106771
NM_199242.3(UNC13D):c.181T>C (p.Tyr61His) rs2143901173
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.1821G>C (p.Arg607=)
NM_199242.3(UNC13D):c.1825C>T (p.Gln609Ter)
NM_199242.3(UNC13D):c.1828C>T (p.Arg610Cys)
NM_199242.3(UNC13D):c.1828_1839del (p.Arg610_Gln613del) rs796065024
NM_199242.3(UNC13D):c.1830C>A (p.Arg610=)
NM_199242.3(UNC13D):c.1831G>A (p.Ala611Thr)
NM_199242.3(UNC13D):c.1833T>A (p.Ala611=)
NM_199242.3(UNC13D):c.183C>T (p.Tyr61=)
NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly) rs754621494
NM_199242.3(UNC13D):c.1848+12G>A
NM_199242.3(UNC13D):c.1848+12G>T rs1007029165
NM_199242.3(UNC13D):c.1848+13C>G
NM_199242.3(UNC13D):c.1848+14C>T
NM_199242.3(UNC13D):c.1848+14_1848+19del
NM_199242.3(UNC13D):c.1848+17G>C
NM_199242.3(UNC13D):c.1848+18G>A
NM_199242.3(UNC13D):c.1848+1G>A
NM_199242.3(UNC13D):c.1848+1G>C
NM_199242.3(UNC13D):c.1848+2_1848+4del
NM_199242.3(UNC13D):c.1848+9G>A
NM_199242.3(UNC13D):c.1848+9G>T
NM_199242.3(UNC13D):c.1849-14C>T
NM_199242.3(UNC13D):c.1849-14del
NM_199242.3(UNC13D):c.1849-15C>T
NM_199242.3(UNC13D):c.1849-17C>G
NM_199242.3(UNC13D):c.1849-3C>T rs971483041
NM_199242.3(UNC13D):c.1849-5C>A
NM_199242.3(UNC13D):c.1857C>T (p.Pro619=) rs2143877155
NM_199242.3(UNC13D):c.1858C>T (p.Leu620=) rs2143877150
NM_199242.3(UNC13D):c.1860G>A (p.Leu620=) rs1202634265
NM_199242.3(UNC13D):c.1860G>T (p.Leu620=)
NM_199242.3(UNC13D):c.1867C>A (p.Leu623Met) rs1461192239
NM_199242.3(UNC13D):c.1872C>G (p.Thr624=)
NM_199242.3(UNC13D):c.1872C>T (p.Thr624=)
NM_199242.3(UNC13D):c.1875G>A (p.Lys625=)
NM_199242.3(UNC13D):c.1878C>T (p.His626=)
NM_199242.3(UNC13D):c.1884A>G (p.Thr628=)
NM_199242.3(UNC13D):c.1889C>T (p.Ala630Val)
NM_199242.3(UNC13D):c.1890G>C (p.Ala630=) rs753021453
NM_199242.3(UNC13D):c.1894G>A (p.Asp632Asn) rs762778765
NM_199242.3(UNC13D):c.1902C>T (p.Ser634=)
NM_199242.3(UNC13D):c.1904C>T (p.Thr635Ile) rs2064897469
NM_199242.3(UNC13D):c.1930G>A (p.Ala644Thr) rs2143876974
NM_199242.3(UNC13D):c.1953_1959del (p.Asp651fs)
NM_199242.3(UNC13D):c.1955C>T (p.Pro652Leu) rs746256202
NM_199242.3(UNC13D):c.1959G>A (p.Glu653=)
NM_199242.3(UNC13D):c.1981A>C (p.Lys661Gln)
NM_199242.3(UNC13D):c.1985T>C (p.Phe662Ser) rs2064896757
NM_199242.3(UNC13D):c.1986T>C (p.Phe662=)
NM_199242.3(UNC13D):c.1992+13C>T
NM_199242.3(UNC13D):c.1992+16C>T
NM_199242.3(UNC13D):c.1992+17G>A
NM_199242.3(UNC13D):c.1992+4C>T rs764950480
NM_199242.3(UNC13D):c.1992+5G>T rs17581728
NM_199242.3(UNC13D):c.1992+8A>G
NM_199242.3(UNC13D):c.1992G>C (p.Glu664Asp)
NM_199242.3(UNC13D):c.1993-11C>T
NM_199242.3(UNC13D):c.1993-14C>T
NM_199242.3(UNC13D):c.1993-15C>G
NM_199242.3(UNC13D):c.1993-4C>T
NM_199242.3(UNC13D):c.1993-6C>T
NM_199242.3(UNC13D):c.1993-8C>T rs2143876230
NM_199242.3(UNC13D):c.1995C>T (p.Asp665=)
NM_199242.3(UNC13D):c.1998C>A (p.Thr666=)
NM_199242.3(UNC13D):c.199C>T (p.Leu67=)
NM_199242.3(UNC13D):c.2013G>C (p.Leu671=)
NM_199242.3(UNC13D):c.2022C>T (p.Cys674=)
NM_199242.3(UNC13D):c.202G>A (p.Gly68Ser)
NM_199242.3(UNC13D):c.2030T>C (p.Ile677Thr)
NM_199242.3(UNC13D):c.2035G>T (p.Ala679Ser) rs1321621237
NM_199242.3(UNC13D):c.2037_2038insG (p.Arg680fs) rs2143876026
NM_199242.3(UNC13D):c.2039G>A (p.Arg680Gln) rs201324352
NM_199242.3(UNC13D):c.203del (p.Gly68fs)
NM_199242.3(UNC13D):c.2042C>A (p.Ala681Asp) rs202113667
NM_199242.3(UNC13D):c.2044C>A (p.Arg682Ser) rs755931780
NM_199242.3(UNC13D):c.2045G>A (p.Arg682His) rs145366134
NM_199242.3(UNC13D):c.2046C>A (p.Arg682=)
NM_199242.3(UNC13D):c.2046C>T (p.Arg682=) rs139837456
NM_199242.3(UNC13D):c.2047G>A (p.Glu683Lys) rs766154876
NM_199242.3(UNC13D):c.2047G>C (p.Glu683Gln) rs766154876
NM_199242.3(UNC13D):c.2049G>A (p.Glu683=)
NM_199242.3(UNC13D):c.2060G>A (p.Gly687Asp) rs1054138754
NM_199242.3(UNC13D):c.2063A>C (p.Gln688Pro)
NM_199242.3(UNC13D):c.2063A>G (p.Gln688Arg) rs777159773
NM_199242.3(UNC13D):c.2074G>A (p.Gly692Ser) rs2143875873
NM_199242.3(UNC13D):c.2085C>T (p.Ala695=)
NM_199242.3(UNC13D):c.2089A>G (p.Met697Val) rs977219681
NM_199242.3(UNC13D):c.2091+12G>T rs2143875813
NM_199242.3(UNC13D):c.2091+7C>G
NM_199242.3(UNC13D):c.2091+8C>T
NM_199242.3(UNC13D):c.2092-7G>A rs2143875673
NM_199242.3(UNC13D):c.2092-7G>C rs2143875673
NM_199242.3(UNC13D):c.2094G>C (p.Leu698=) rs1180742786
NM_199242.3(UNC13D):c.2095T>C (p.Cys699Arg)
NM_199242.3(UNC13D):c.2096G>A (p.Cys699Tyr) rs2064893465
NM_199242.3(UNC13D):c.2098G>T (p.Val700Leu) rs1599407040
NM_199242.3(UNC13D):c.2101G>C (p.Val701Leu)
NM_199242.3(UNC13D):c.2106G>A (p.Val702=)
NM_199242.3(UNC13D):c.2108A>G (p.Asn703Ser)
NM_199242.3(UNC13D):c.2118G>A (p.Glu706=)
NM_199242.3(UNC13D):c.2119C>T (p.Gln707Ter)
NM_199242.3(UNC13D):c.2125C>A (p.Arg709=)
NM_199242.3(UNC13D):c.2125C>T (p.Arg709Trp) rs548101215
NM_199242.3(UNC13D):c.2128C>T (p.Leu710=) rs2143875531
NM_199242.3(UNC13D):c.2133G>A (p.Val711=)
NM_199242.3(UNC13D):c.2136C>G (p.Ile712Met) rs112245411
NM_199242.3(UNC13D):c.2136C>T (p.Ile712=) rs112245411
NM_199242.3(UNC13D):c.2151C>G (p.Ala717=)
NM_199242.3(UNC13D):c.2160A>T (p.Ala720=)
NM_199242.3(UNC13D):c.2161T>C (p.Trp721Arg)
NM_199242.3(UNC13D):c.2166G>A (p.Glu722=)
NM_199242.3(UNC13D):c.2171T>A (p.Leu724Gln)
NM_199242.3(UNC13D):c.2184A>G (p.Val728=)
NM_199242.3(UNC13D):c.2188del (p.Ala730fs)
NM_199242.3(UNC13D):c.2190C>T (p.Ala730=)
NM_199242.3(UNC13D):c.2205del (p.Gln736fs)
NM_199242.3(UNC13D):c.2207del (p.Gln736fs)
NM_199242.3(UNC13D):c.2214G>A (p.Gln738=)
NM_199242.3(UNC13D):c.2226T>C (p.His742=)
NM_199242.3(UNC13D):c.2229C>T (p.Ala743=) rs1599406871
NM_199242.3(UNC13D):c.222T>C (p.His74=)
NM_199242.3(UNC13D):c.2239A>G (p.Ser747Gly)
NM_199242.3(UNC13D):c.2240G>A (p.Ser747Asn)
NM_199242.3(UNC13D):c.2241C>A (p.Ser747Arg) rs372453702
NM_199242.3(UNC13D):c.2244G>A (p.Ala748=)
NM_199242.3(UNC13D):c.2250C>G (p.Ala750=) rs146737486
NM_199242.3(UNC13D):c.2253G>A (p.Gly751=) rs1240535601
NM_199242.3(UNC13D):c.2253G>T (p.Gly751=)
NM_199242.3(UNC13D):c.2256G>A (p.Leu752=)
NM_199242.3(UNC13D):c.2256G>T (p.Leu752=) rs2143874976
NM_199242.3(UNC13D):c.2259C>A (p.Gly753=) rs1354115593
NM_199242.3(UNC13D):c.2259C>T (p.Gly753=)
NM_199242.3(UNC13D):c.2264_2265insCC (p.Glu755fs)
NM_199242.3(UNC13D):c.2267del (p.Ile756fs)
NM_199242.3(UNC13D):c.2269C>T (p.Arg757Cys) rs1207229316
NM_199242.3(UNC13D):c.2270G>A (p.Arg757His)
NM_199242.3(UNC13D):c.2271C>T (p.Arg757=)
NM_199242.3(UNC13D):c.2277C>T (p.Gly759=)
NM_199242.3(UNC13D):c.228G>A (p.Thr76=) rs747513643
NM_199242.3(UNC13D):c.228G>C (p.Thr76=)
NM_199242.3(UNC13D):c.2292C>T (p.Ala764=)
NM_199242.3(UNC13D):c.2293G>T (p.Glu765Ter) rs763117746
NM_199242.3(UNC13D):c.2295G>A (p.Glu765=)
NM_199242.3(UNC13D):c.2296C>T (p.Gln766Ter)
NM_199242.3(UNC13D):c.2298+12G>A
NM_199242.3(UNC13D):c.2298+14C>T
NM_199242.3(UNC13D):c.2298+16G>A
NM_199242.3(UNC13D):c.2298+16G>C
NM_199242.3(UNC13D):c.2298+18A>C
NM_199242.3(UNC13D):c.2298+18A>G
NM_199242.3(UNC13D):c.2298+19C>T
NM_199242.3(UNC13D):c.2298+19_2298+20del rs2143874512
NM_199242.3(UNC13D):c.2298+20A>G
NM_199242.3(UNC13D):c.2298+9T>C
NM_199242.3(UNC13D):c.2299-15G>A rs765565016
NM_199242.3(UNC13D):c.2299-16C>T
NM_199242.3(UNC13D):c.2299-19_2299-17del
NM_199242.3(UNC13D):c.2299-8_2299-7del
NM_199242.3(UNC13D):c.2308G>A (p.Gly770Ser)
NM_199242.3(UNC13D):c.2309del (p.Gly770fs)
NM_199242.3(UNC13D):c.2313C>T (p.Ile771=)
NM_199242.3(UNC13D):c.2334G>A (p.Leu778=)
NM_199242.3(UNC13D):c.2337G>A (p.Val779=) rs2143873738
NM_199242.3(UNC13D):c.2338G>A (p.Gly780Ser)
NM_199242.3(UNC13D):c.2346G>C (p.Arg782Ser)
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs) rs764196809
NM_199242.3(UNC13D):c.2349G>C (p.Glu783Asp)
NM_199242.3(UNC13D):c.2352_2355del (p.Val785fs)
NM_199242.3(UNC13D):c.2356C>T (p.Leu786=)
NM_199242.3(UNC13D):c.2358G>T (p.Leu786=)
NM_199242.3(UNC13D):c.2367+16G>T rs1049703211
NM_199242.3(UNC13D):c.2367+17C>T
NM_199242.3(UNC13D):c.2367+8G>T
NM_199242.3(UNC13D):c.2368-15C>T
NM_199242.3(UNC13D):c.2368-18C>G
NM_199242.3(UNC13D):c.2368-19_2368-18delinsCT
NM_199242.3(UNC13D):c.2368-6C>G
NM_199242.3(UNC13D):c.2368-6C>T rs776391631
NM_199242.3(UNC13D):c.2368G>C (p.Ala790Pro) rs865794224
NM_199242.3(UNC13D):c.237T>C (p.Ser79=)
NM_199242.3(UNC13D):c.2380C>A (p.Leu794Met) rs1166719662
NM_199242.3(UNC13D):c.2380C>T (p.Leu794=) rs1166719662
NM_199242.3(UNC13D):c.2381del (p.Leu794fs) rs2064882892
NM_199242.3(UNC13D):c.2392C>T (p.Leu798=)
NM_199242.3(UNC13D):c.2398G>A (p.Val800Met)
NM_199242.3(UNC13D):c.2403G>A (p.Glu801=)
NM_199242.3(UNC13D):c.2404C>G (p.Leu802Val)
NM_199242.3(UNC13D):c.240G>A (p.Glu80=)
NM_199242.3(UNC13D):c.2413A>G (p.Met805Val)
NM_199242.3(UNC13D):c.2425T>C (p.Leu809=)
NM_199242.3(UNC13D):c.2427G>A (p.Leu809=)
NM_199242.3(UNC13D):c.2430G>A (p.Val810=)
NM_199242.3(UNC13D):c.2430G>T (p.Val810=)
NM_199242.3(UNC13D):c.2434G>T (p.Glu812Ter)
NM_199242.3(UNC13D):c.2438A>T (p.Asn813Ile)
NM_199242.3(UNC13D):c.2447+11G>A
NM_199242.3(UNC13D):c.2447+14C>A
NM_199242.3(UNC13D):c.2447+14C>T
NM_199242.3(UNC13D):c.2447+19C>A
NM_199242.3(UNC13D):c.2447+2T>C
NM_199242.3(UNC13D):c.2447+5G>A
NM_199242.3(UNC13D):c.2448-12del
NM_199242.3(UNC13D):c.2448-13G>A rs753762300
NM_199242.3(UNC13D):c.2448-13G>C
NM_199242.3(UNC13D):c.2448-17C>G
NM_199242.3(UNC13D):c.2448-18C>T
NM_199242.3(UNC13D):c.2448-18_2448-14dup
NM_199242.3(UNC13D):c.2448-5C>A
NM_199242.3(UNC13D):c.2448-6C>T
NM_199242.3(UNC13D):c.2448-7G>C rs537787945
NM_199242.3(UNC13D):c.2448-7_2448-6insA rs771513070
NM_199242.3(UNC13D):c.2448-8_2448-7insT
NM_199242.3(UNC13D):c.2448-8dup rs3217698
NM_199242.3(UNC13D):c.2451C>T (p.Leu817=)
NM_199242.3(UNC13D):c.2452C>A (p.Leu818Met) rs2143867670
NM_199242.3(UNC13D):c.2456C>T (p.Thr819Ile)
NM_199242.3(UNC13D):c.2457C>G (p.Thr819=)
NM_199242.3(UNC13D):c.2457C>T (p.Thr819=)
NM_199242.3(UNC13D):c.2466G>T (p.Trp822Cys) rs2143867645
NM_199242.3(UNC13D):c.2466del (p.Leu821_Trp822insTer)
NM_199242.3(UNC13D):c.2471A>G (p.His824Arg) rs759207238
NM_199242.3(UNC13D):c.2472C>T (p.His824=)
NM_199242.3(UNC13D):c.2473A>C (p.Thr825Pro) rs1330364586
NM_199242.3(UNC13D):c.2475_2476dup (p.Leu826fs)
NM_199242.3(UNC13D):c.2477_2480del (p.Leu826fs) rs1446025324
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter) rs1274685768
NM_199242.3(UNC13D):c.2480C>A (p.Thr827Lys) rs1163818709
NM_199242.3(UNC13D):c.2496G>T (p.Ala832=)
NM_199242.3(UNC13D):c.2502C>T (p.Ala834=)
NM_199242.3(UNC13D):c.2509C>T (p.Arg837Cys)
NM_199242.3(UNC13D):c.2517A>T (p.Ser839=)
NM_199242.3(UNC13D):c.2522T>C (p.Leu841Pro)
NM_199242.3(UNC13D):c.2524G>T (p.Ala842Ser) rs2143867469
NM_199242.3(UNC13D):c.2525C>T (p.Ala842Val) rs749065266
NM_199242.3(UNC13D):c.252C>A (p.Tyr84Ter)
NM_199242.3(UNC13D):c.2538G>A (p.Leu846=)
NM_199242.3(UNC13D):c.2541G>T (p.Lys847Asn) rs2143867438
NM_199242.3(UNC13D):c.2553+11C>A
NM_199242.3(UNC13D):c.2553+11C>G rs774613615
NM_199242.3(UNC13D):c.2553+11C>T rs774613615
NM_199242.3(UNC13D):c.2553+13G>A
NM_199242.3(UNC13D):c.2553+14T>G
NM_199242.3(UNC13D):c.2553+15C>T
NM_199242.3(UNC13D):c.2553+6A>T
NM_199242.3(UNC13D):c.2553+7G>C
NM_199242.3(UNC13D):c.2553+8A>G
NM_199242.3(UNC13D):c.2554-10T>C
NM_199242.3(UNC13D):c.2554-16C>A rs184354110
NM_199242.3(UNC13D):c.2554-18C>T
NM_199242.3(UNC13D):c.2554-5C>T
NM_199242.3(UNC13D):c.2554-7C>T rs1567817114
NM_199242.3(UNC13D):c.2557C>T (p.Leu853=)
NM_199242.3(UNC13D):c.2565C>G (p.Ile855Met) rs1411846980
NM_199242.3(UNC13D):c.2577T>C (p.Ala859=)
NM_199242.3(UNC13D):c.2582G>C (p.Gly861Ala)
NM_199242.3(UNC13D):c.2585G>A (p.Cys862Tyr) rs2064869565
NM_199242.3(UNC13D):c.2589C>G (p.Gly863=) rs181621682
NM_199242.3(UNC13D):c.258_261+16del
NM_199242.3(UNC13D):c.2590C>G (p.Leu864Val) rs765645010
NM_199242.3(UNC13D):c.2590C>T (p.Leu864=)
NM_199242.3(UNC13D):c.2598_2599inv (p.Lys867Glu)
NM_199242.3(UNC13D):c.261+11C>T
NM_199242.3(UNC13D):c.261+17C>A rs2143900774
NM_199242.3(UNC13D):c.261+17C>T
NM_199242.3(UNC13D):c.261+18C>T
NM_199242.3(UNC13D):c.261+19C>T
NM_199242.3(UNC13D):c.261+8C>A
NM_199242.3(UNC13D):c.261+8C>G
NM_199242.3(UNC13D):c.2619C>G (p.Thr873=)
NM_199242.3(UNC13D):c.262-18C>G
NM_199242.3(UNC13D):c.262-1G>A
NM_199242.3(UNC13D):c.262-9C>T
NM_199242.3(UNC13D):c.2625+13_2625+14insAA
NM_199242.3(UNC13D):c.2625+18G>A
NM_199242.3(UNC13D):c.2625+18G>C
NM_199242.3(UNC13D):c.2625+1G>A
NM_199242.3(UNC13D):c.2626-12A>C
NM_199242.3(UNC13D):c.2626-7T>G
NM_199242.3(UNC13D):c.2638G>C (p.Asp880His)
NM_199242.3(UNC13D):c.2645A>G (p.Glu882Gly) rs2143865857
NM_199242.3(UNC13D):c.2649G>A (p.Leu883=)
NM_199242.3(UNC13D):c.2649G>C (p.Leu883=)
NM_199242.3(UNC13D):c.2655G>A (p.Ala885=)
NM_199242.3(UNC13D):c.2655G>T (p.Ala885=)
NM_199242.3(UNC13D):c.2658C>T (p.Ala886=)
NM_199242.3(UNC13D):c.2660C>T (p.Ser887Phe) rs1037729939
NM_199242.3(UNC13D):c.2663G>A (p.Ser888Asn) rs764514797
NM_199242.3(UNC13D):c.2665C>T (p.Arg889Trp) rs756588179
NM_199242.3(UNC13D):c.2666G>C (p.Arg889Pro) rs371000216
NM_199242.3(UNC13D):c.2688C>T (p.Phe896=)
NM_199242.3(UNC13D):c.2700C>A (p.Ile900=)
NM_199242.3(UNC13D):c.2703G>A (p.Gln901=)
NM_199242.3(UNC13D):c.2704C>T (p.Gln902Ter)
NM_199242.3(UNC13D):c.2709+11T>C
NM_199242.3(UNC13D):c.2709+12C>A
NM_199242.3(UNC13D):c.2709+16C>G rs747021679
NM_199242.3(UNC13D):c.2709+17G>A
NM_199242.3(UNC13D):c.2709+17G>T
NM_199242.3(UNC13D):c.2709+19A>C
NM_199242.3(UNC13D):c.2709+1G>A rs1555600214
NM_199242.3(UNC13D):c.2709+1G>T
NM_199242.3(UNC13D):c.2709+20C>T
NM_199242.3(UNC13D):c.2709+2T>A rs2143865621
NM_199242.3(UNC13D):c.2709+7C>A
NM_199242.3(UNC13D):c.270C>T (p.His90=)
NM_199242.3(UNC13D):c.2710-10C>T
NM_199242.3(UNC13D):c.2710-14G>A
NM_199242.3(UNC13D):c.2710-18C>A rs1555600186
NM_199242.3(UNC13D):c.2710-19C>A
NM_199242.3(UNC13D):c.2710-19C>G
NM_199242.3(UNC13D):c.2710-2A>G rs910650073
NM_199242.3(UNC13D):c.2710-36TGACCCTGC[3]
NM_199242.3(UNC13D):c.2710-4C>T
NM_199242.3(UNC13D):c.2710-5C>G
NM_199242.3(UNC13D):c.2710-9C>A
NM_199242.3(UNC13D):c.2715A>G (p.Glu905=)
NM_199242.3(UNC13D):c.2716dup (p.Thr906fs)
NM_199242.3(UNC13D):c.2718C>T (p.Thr906=)
NM_199242.3(UNC13D):c.2719_2722dup (p.Ser908fs)
NM_199242.3(UNC13D):c.2724dup (p.Glu909Ter)
NM_199242.3(UNC13D):c.2730G>A (p.Glu910=)
NM_199242.3(UNC13D):c.2732T>C (p.Leu911Pro) rs576759232
NM_199242.3(UNC13D):c.2733G>A (p.Leu911=)
NM_199242.3(UNC13D):c.2742G>A (p.Val914=) rs777262533
NM_199242.3(UNC13D):c.2742G>T (p.Val914=)
NM_199242.3(UNC13D):c.2748C>T (p.Val916=) rs2143865000
NM_199242.3(UNC13D):c.2761C>G (p.Arg921Gly)
NM_199242.3(UNC13D):c.2763C>T (p.Arg921=)
NM_199242.3(UNC13D):c.2769T>C (p.Ser923=)
NM_199242.3(UNC13D):c.2779C>T (p.Leu927=)
NM_199242.3(UNC13D):c.277C>A (p.Pro93Thr)
NM_199242.3(UNC13D):c.2780T>G (p.Leu927Arg)
NM_199242.3(UNC13D):c.2787G>A (p.Val929=)
NM_199242.3(UNC13D):c.2791C>G (p.Leu931Val) rs2064862566
NM_199242.3(UNC13D):c.2799del (p.Ser933fs)
NM_199242.3(UNC13D):c.279C>G (p.Pro93=) rs3744007
NM_199242.3(UNC13D):c.279C>T (p.Pro93=) rs3744007
NM_199242.3(UNC13D):c.2800G>C (p.Ala934Pro) rs534473771
NM_199242.3(UNC13D):c.2802C>T (p.Ala934=)
NM_199242.3(UNC13D):c.280GAG[3] (p.Glu95dup) rs772459675
NM_199242.3(UNC13D):c.2811G>A (p.Leu937=)
NM_199242.3(UNC13D):c.2811G>C (p.Leu937=)
NM_199242.3(UNC13D):c.2814G>T (p.Leu938=)
NM_199242.3(UNC13D):c.2815C>T (p.Pro939Ser)
NM_199242.3(UNC13D):c.2818C>T (p.Leu940=)
NM_199242.3(UNC13D):c.2825C>G (p.Ser942Cys)
NM_199242.3(UNC13D):c.2830+11G>A
NM_199242.3(UNC13D):c.2830+11G>C
NM_199242.3(UNC13D):c.2830+18T>C rs1372251630
NM_199242.3(UNC13D):c.2830+18T>G
NM_199242.3(UNC13D):c.2830+6T>C rs1347480374
NM_199242.3(UNC13D):c.2831-11C>T
NM_199242.3(UNC13D):c.2831-13G>A rs1005334519
NM_199242.3(UNC13D):c.2831-14C>T
NM_199242.3(UNC13D):c.2831-15C>T rs2143864252
NM_199242.3(UNC13D):c.2831-17C>T
NM_199242.3(UNC13D):c.2831-19C>T rs369860531
NM_199242.3(UNC13D):c.2831-4C>T
NM_199242.3(UNC13D):c.2832C>T (p.Gly944=)
NM_199242.3(UNC13D):c.2838C>T (p.Ser946=)
NM_199242.3(UNC13D):c.2841C>A (p.Asp947Glu) rs1256102965
NM_199242.3(UNC13D):c.2842C>T (p.Pro948Ser)
NM_199242.3(UNC13D):c.2844C>G (p.Pro948=)
NM_199242.3(UNC13D):c.2847T>C (p.Phe949=)
NM_199242.3(UNC13D):c.2847del (p.Phe949fs)
NM_199242.3(UNC13D):c.2854C>T (p.Leu952=)
NM_199242.3(UNC13D):c.2859C>T (p.Thr953=)
NM_199242.3(UNC13D):c.285G>A (p.Glu95=)
NM_199242.3(UNC13D):c.2868del (p.Arg957fs)
NM_199242.3(UNC13D):c.2869A>C (p.Arg957=)
NM_199242.3(UNC13D):c.286C>T (p.His96Tyr)
NM_199242.3(UNC13D):c.2871G>A (p.Arg957=)
NM_199242.3(UNC13D):c.288C>G (p.His96Gln)
NM_199242.3(UNC13D):c.2892C>T (p.Ala964=)
NM_199242.3(UNC13D):c.2896C>G (p.Arg966Gly)
NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp) rs118049905
NM_199242.3(UNC13D):c.2908A>G (p.Lys970Glu) rs2064859001
NM_199242.3(UNC13D):c.2910G>A (p.Lys970=)
NM_199242.3(UNC13D):c.291G>A (p.Gln97=)
NM_199242.3(UNC13D):c.2922C>T (p.Asp974=) rs2143863995
NM_199242.3(UNC13D):c.2931A>G (p.Pro977=)
NM_199242.3(UNC13D):c.2932T>C (p.Leu978=)
NM_199242.3(UNC13D):c.2945C>A (p.Thr982Asn) rs2064858717
NM_199242.3(UNC13D):c.2954+7G>T rs1182241695
NM_199242.3(UNC13D):c.2954+8G>C rs1483854859
NM_199242.3(UNC13D):c.2955-11T>A
NM_199242.3(UNC13D):c.2955-12C>G
NM_199242.3(UNC13D):c.2955-16del
NM_199242.3(UNC13D):c.2955-18C>G
NM_199242.3(UNC13D):c.2955-19G>A rs1229155468
NM_199242.3(UNC13D):c.2955-19G>C
NM_199242.3(UNC13D):c.2955-1G>A rs1041960684
NM_199242.3(UNC13D):c.2955-6C>T rs753334662
NM_199242.3(UNC13D):c.2955-7C>G
NM_199242.3(UNC13D):c.2955-9T>G
NM_199242.3(UNC13D):c.2955-9_2955-8del
NM_199242.3(UNC13D):c.2955C>G (p.Phe985Leu) rs2143861441
NM_199242.3(UNC13D):c.2960T>C (p.Val987Ala)
NM_199242.3(UNC13D):c.2965G>A (p.Ala989Thr) rs1177653533
NM_199242.3(UNC13D):c.296C>T (p.Thr99Ile)
NM_199242.3(UNC13D):c.2977C>A (p.Arg993Ser) rs759922688
NM_199242.3(UNC13D):c.2978G>A (p.Arg993His)
NM_199242.3(UNC13D):c.2978G>T (p.Arg993Leu) rs140452589
NM_199242.3(UNC13D):c.2979C>T (p.Arg993=)
NM_199242.3(UNC13D):c.2982G>A (p.Lys994=)
NM_199242.3(UNC13D):c.2988G>A (p.Gly996=)
NM_199242.3(UNC13D):c.2997C>T (p.Leu999=)
NM_199242.3(UNC13D):c.3000G>T (p.Leu1000=)
NM_199242.3(UNC13D):c.3001C>T (p.Leu1001Phe) rs1797449728
NM_199242.3(UNC13D):c.3003C>A (p.Leu1001=) rs1282273933
NM_199242.3(UNC13D):c.3007G>C (p.Val1003Leu)
NM_199242.3(UNC13D):c.3009G>A (p.Val1003=)
NM_199242.3(UNC13D):c.3010C>T (p.Leu1004=)
NM_199242.3(UNC13D):c.3011_3014dup (p.Tyr1006fs) rs1567816070
NM_199242.3(UNC13D):c.3012G>A (p.Leu1004=)
NM_199242.3(UNC13D):c.3013G>A (p.Asp1005Asn)
NM_199242.3(UNC13D):c.3018C>G (p.Tyr1006Ter) rs775862197
NM_199242.3(UNC13D):c.3019G>A (p.Asp1007Asn)
NM_199242.3(UNC13D):c.3024G>A (p.Thr1008=) rs562357679
NM_199242.3(UNC13D):c.3024G>C (p.Thr1008=)
NM_199242.3(UNC13D):c.302A>G (p.Gln101Arg) rs1280197502
NM_199242.3(UNC13D):c.3032C>A (p.Ala1011Asp)
NM_199242.3(UNC13D):c.3033C>A (p.Ala1011=)
NM_199242.3(UNC13D):c.3039C>T (p.Asp1013=) rs769897808
NM_199242.3(UNC13D):c.3043del (p.Glu1015fs)
NM_199242.3(UNC13D):c.3044A>G (p.Glu1015Gly) rs2062141978
NM_199242.3(UNC13D):c.3048C>T (p.Gly1016=) rs111279039
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)
NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)
NM_199242.3(UNC13D):c.3056_3059del (p.Phe1019fs)
NM_199242.3(UNC13D):c.305G>C (p.Arg102Pro)
NM_199242.3(UNC13D):c.3061_3067del (p.Pro1021fs)
NM_199242.3(UNC13D):c.3063G>A (p.Pro1021=)
NM_199242.3(UNC13D):c.3063G>T (p.Pro1021=) rs755709094
NM_199242.3(UNC13D):c.3075G>T (p.Val1025=) rs750974136
NM_199242.3(UNC13D):c.3077C>T (p.Pro1026Leu) rs765680080
NM_199242.3(UNC13D):c.3078C>G (p.Pro1026=) rs372034111
NM_199242.3(UNC13D):c.3082C>G (p.Leu1028Val) rs2062141511
NM_199242.3(UNC13D):c.309C>T (p.Val103=)
NM_199242.3(UNC13D):c.30G>A (p.Gln10=)
NM_199242.3(UNC13D):c.30G>T (p.Gln10His) rs1316667053
NM_199242.3(UNC13D):c.3118A>G (p.Thr1040Ala) rs773314418
NM_199242.3(UNC13D):c.3135G>A (p.Thr1045=)
NM_199242.3(UNC13D):c.3141C>T (p.Pro1047=)
NM_199242.3(UNC13D):c.3147C>A (p.Pro1049=)
NM_199242.3(UNC13D):c.3147del (p.Asn1050fs) rs1048876742
NM_199242.3(UNC13D):c.3149A>G (p.Asn1050Ser)
NM_199242.3(UNC13D):c.3151+13C>G
NM_199242.3(UNC13D):c.3151+15A>C
NM_199242.3(UNC13D):c.3151+17G>C
NM_199242.3(UNC13D):c.3151+17G>T
NM_199242.3(UNC13D):c.3151+18G>A
NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg) rs1232542382
NM_199242.3(UNC13D):c.3152-10C>G
NM_199242.3(UNC13D):c.3152-11TC[2] rs1308040427
NM_199242.3(UNC13D):c.3152-12C>T
NM_199242.3(UNC13D):c.3152-14C>T
NM_199242.3(UNC13D):c.3152-15C>T
NM_199242.3(UNC13D):c.3152-19del
NM_199242.3(UNC13D):c.3152-8C>T
NM_199242.3(UNC13D):c.3153G>A (p.Gly1051=)
NM_199242.3(UNC13D):c.3153G>T (p.Gly1051=)
NM_199242.3(UNC13D):c.3159A>G (p.Pro1053=)
NM_199242.3(UNC13D):c.315G>A (p.Glu105=)
NM_199242.3(UNC13D):c.3165G>T (p.Leu1055=)
NM_199242.3(UNC13D):c.3170T>C (p.Leu1057Pro)
NM_199242.3(UNC13D):c.3183G>C (p.Arg1061=) rs2143858841
NM_199242.3(UNC13D):c.3183del (p.Lys1062fs)
NM_199242.3(UNC13D):c.3192C>A (p.Asp1064Glu)
NM_199242.3(UNC13D):c.3193C>G (p.Arg1065Gly) rs774921373
NM_199242.3(UNC13D):c.3193C>T (p.Arg1065Ter)
NM_199242.3(UNC13D):c.3194G>A (p.Arg1065Gln)
NM_199242.3(UNC13D):c.3194del (p.Arg1065fs)
NM_199242.3(UNC13D):c.3195A>G (p.Arg1065=)
NM_199242.3(UNC13D):c.31C>T (p.Arg11Cys)
NM_199242.3(UNC13D):c.3201C>G (p.Ala1067=)
NM_199242.3(UNC13D):c.3201C>T (p.Ala1067=)
NM_199242.3(UNC13D):c.3204G>C (p.Gln1068His)
NM_199242.3(UNC13D):c.321+17G>A
NM_199242.3(UNC13D):c.321+18T>C rs2143900206
NM_199242.3(UNC13D):c.321+19C>T
NM_199242.3(UNC13D):c.321+1_321+2del rs2064960126
NM_199242.3(UNC13D):c.321+2T>G
NM_199242.3(UNC13D):c.321+3A>T rs2143900299
NM_199242.3(UNC13D):c.321+7T>A
NM_199242.3(UNC13D):c.321+7T>C
NM_199242.3(UNC13D):c.321+7T>G
NM_199242.3(UNC13D):c.321+9G>A rs779684660
NM_199242.3(UNC13D):c.3210T>C (p.Phe1070=)
NM_199242.3(UNC13D):c.3215G>C (p.Arg1072Thr)
NM_199242.3(UNC13D):c.322-11dup
NM_199242.3(UNC13D):c.322-12C>T
NM_199242.3(UNC13D):c.322-13C>A rs2064959329
NM_199242.3(UNC13D):c.322-15C>T
NM_199242.3(UNC13D):c.322-17C>T
NM_199242.3(UNC13D):c.322-4C>T
NM_199242.3(UNC13D):c.322-6del
NM_199242.3(UNC13D):c.3224G>T (p.Arg1075Leu) rs377594755
NM_199242.3(UNC13D):c.3230G>A (p.Arg1077Gln) rs560279707
NM_199242.3(UNC13D):c.3236del (p.Lys1079fs) rs763287992
NM_199242.3(UNC13D):c.323A>G (p.Lys108Arg) rs2064959179
NM_199242.3(UNC13D):c.3249G>A (p.Gln1083=)
NM_199242.3(UNC13D):c.3254C>A (p.Ala1085Asp)
NM_199242.3(UNC13D):c.3254C>G (p.Ala1085Gly)
NM_199242.3(UNC13D):c.3254C>T (p.Ala1085Val) rs778060284
NM_199242.3(UNC13D):c.3268C>T (p.Pro1090Ser) rs1332768685
NM_199242.3(UNC13D):c.3270G>T (p.Pro1090=)
NM_199242.3(UNC13D):c.32G>A (p.Arg11His) rs574927621
NM_199242.3(UNC13D):c.336T>C (p.Cys112=)
NM_199242.3(UNC13D):c.337C>T (p.Leu113=) rs1599415178
NM_199242.3(UNC13D):c.348A>G (p.Thr116=)
NM_199242.3(UNC13D):c.366C>T (p.Gly122=)
NM_199242.3(UNC13D):c.388+12G>A
NM_199242.3(UNC13D):c.388+12G>T
NM_199242.3(UNC13D):c.388+14G>A
NM_199242.3(UNC13D):c.388+15G>C
NM_199242.3(UNC13D):c.388+15G>T
NM_199242.3(UNC13D):c.388+16G>A
NM_199242.3(UNC13D):c.388+17G>T
NM_199242.3(UNC13D):c.388+3G>A
NM_199242.3(UNC13D):c.388+8T>A
NM_199242.3(UNC13D):c.388+8T>C
NM_199242.3(UNC13D):c.388+8T>G
NM_199242.3(UNC13D):c.389-13C>T rs1376263454
NM_199242.3(UNC13D):c.389-13del
NM_199242.3(UNC13D):c.389-16C>T
NM_199242.3(UNC13D):c.389-3C>G rs2064957212
NM_199242.3(UNC13D):c.389-6C>T
NM_199242.3(UNC13D):c.389-9C>A rs946234751
NM_199242.3(UNC13D):c.389-9C>T
NM_199242.3(UNC13D):c.389G>A (p.Gly130Glu)
NM_199242.3(UNC13D):c.396C>T (p.Ser132=)
NM_199242.3(UNC13D):c.397G>A (p.Asp133Asn)
NM_199242.3(UNC13D):c.408C>T (p.Cys136=)
NM_199242.3(UNC13D):c.408_414del (p.Cys136fs) rs2064957038
NM_199242.3(UNC13D):c.411G>A (p.Leu137=)
NM_199242.3(UNC13D):c.414G>A (p.Leu138=)
NM_199242.3(UNC13D):c.417C>T (p.Gly139=)
NM_199242.3(UNC13D):c.42C>T (p.Phe14=)
NM_199242.3(UNC13D):c.430G>T (p.Val144Leu) rs987855651
NM_199242.3(UNC13D):c.432A>G (p.Val144=)
NM_199242.3(UNC13D):c.435T>C (p.Gly145=)
NM_199242.3(UNC13D):c.441del (p.Gly149fs)
NM_199242.3(UNC13D):c.443G>C (p.Gly148Ala) rs551855408
NM_199242.3(UNC13D):c.455G>T (p.Gly152Val) rs774159498
NM_199242.3(UNC13D):c.456G>C (p.Gly152=) rs1599414821
NM_199242.3(UNC13D):c.462G>A (p.Arg154=)
NM_199242.3(UNC13D):c.468G>C (p.Arg156=)
NM_199242.3(UNC13D):c.46C>G (p.Arg16Gly) rs370709761
NM_199242.3(UNC13D):c.48C>T (p.Arg16=)
NM_199242.3(UNC13D):c.491C>T (p.Thr164Ile)
NM_199242.3(UNC13D):c.492C>G (p.Thr164=)
NM_199242.3(UNC13D):c.495C>A (p.Ile165=)
NM_199242.3(UNC13D):c.498C>A (p.Pro166=)
NM_199242.3(UNC13D):c.49C>T (p.Gln17Ter) rs2064970978
NM_199242.3(UNC13D):c.501G>A (p.Glu167=)
NM_199242.3(UNC13D):c.504G>A (p.Glu168=)
NM_199242.3(UNC13D):c.510C>A (p.Thr170=)
NM_199242.3(UNC13D):c.513C>T (p.His171=)
NM_199242.3(UNC13D):c.514C>A (p.Arg172Ser) rs560126604
NM_199242.3(UNC13D):c.515G>C (p.Arg172Pro) rs769659694
NM_199242.3(UNC13D):c.519G>T (p.Thr173=)
NM_199242.3(UNC13D):c.532del (p.Gln178fs)
NM_199242.3(UNC13D):c.537A>G (p.Thr179=) rs1333039141
NM_199242.3(UNC13D):c.540C>G (p.Leu180=)
NM_199242.3(UNC13D):c.544C>T (p.Pro182Ser) rs1567822165
NM_199242.3(UNC13D):c.546C>T (p.Pro182=)
NM_199242.3(UNC13D):c.54C>T (p.Ala18=)
NM_199242.3(UNC13D):c.553G>A (p.Asp185Asn)
NM_199242.3(UNC13D):c.560C>A (p.Thr187Asn)
NM_199242.3(UNC13D):c.561C>T (p.Thr187=)
NM_199242.3(UNC13D):c.567C>T (p.Ile189=)
NM_199242.3(UNC13D):c.568del (p.Leu190fs)
NM_199242.3(UNC13D):c.569+11G>C
NM_199242.3(UNC13D):c.569T>G (p.Leu190Arg)
NM_199242.3(UNC13D):c.570-10C>A rs2064944765
NM_199242.3(UNC13D):c.570-13T>G
NM_199242.3(UNC13D):c.570-16C>G
NM_199242.3(UNC13D):c.570-17C>T
NM_199242.3(UNC13D):c.570-19C>A
NM_199242.3(UNC13D):c.570-19C>T
NM_199242.3(UNC13D):c.570-2A>G
NM_199242.3(UNC13D):c.570-2A>T rs770325118
NM_199242.3(UNC13D):c.570-4A>G
NM_199242.3(UNC13D):c.570-6A>T
NM_199242.3(UNC13D):c.577G>A (p.Glu193Lys)
NM_199242.3(UNC13D):c.578A>G (p.Glu193Gly) rs532317198
NM_199242.3(UNC13D):c.580G>A (p.Asp194Asn)
NM_199242.3(UNC13D):c.583A>G (p.Ile195Val)
NM_199242.3(UNC13D):c.588C>T (p.Thr196=)
NM_199242.3(UNC13D):c.594G>C (p.Ala198=) rs755967157
NM_199242.3(UNC13D):c.606G>A (p.Leu202=)
NM_199242.3(UNC13D):c.614+11T>C
NM_199242.3(UNC13D):c.614+12G>A
NM_199242.3(UNC13D):c.614+13G>A
NM_199242.3(UNC13D):c.614+14C>T
NM_199242.3(UNC13D):c.614+20C>T
NM_199242.3(UNC13D):c.614+9C>A
NM_199242.3(UNC13D):c.615-10G>A
NM_199242.3(UNC13D):c.615-10G>C rs200803997
NM_199242.3(UNC13D):c.615-12C>G
NM_199242.3(UNC13D):c.615-5G>A
NM_199242.3(UNC13D):c.615-6T>G
NM_199242.3(UNC13D):c.615-7C>T
NM_199242.3(UNC13D):c.615G>C (p.Trp205Cys)
NM_199242.3(UNC13D):c.621G>T (p.Leu207=) rs1199198868
NM_199242.3(UNC13D):c.622G>T (p.Asp208Tyr) rs2143894092
NM_199242.3(UNC13D):c.627del (p.Val210fs)
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly) rs553365957
NM_199242.3(UNC13D):c.631G>A (p.Glu211Lys)
NM_199242.3(UNC13D):c.634_657del (p.Ser212_Glu219del) rs752263804
NM_199242.3(UNC13D):c.648G>A (p.Lys216=)
NM_199242.3(UNC13D):c.654G>A (p.Gly218=)
NM_199242.3(UNC13D):c.662C>T (p.Thr221Met)
NM_199242.3(UNC13D):c.663G>C (p.Thr221=)
NM_199242.3(UNC13D):c.666T>C (p.Asp222=)
NM_199242.3(UNC13D):c.672T>C (p.His224=)
NM_199242.3(UNC13D):c.681C>A (p.Arg227=)
NM_199242.3(UNC13D):c.683+17T>C
NM_199242.3(UNC13D):c.683+1G>A
NM_199242.3(UNC13D):c.683+4C>G
NM_199242.3(UNC13D):c.683+4C>T rs374832914
NM_199242.3(UNC13D):c.683+5G>A
NM_199242.3(UNC13D):c.683+5G>T rs554536271
NM_199242.3(UNC13D):c.683+8_683+9insGTGTG rs751253097
NM_199242.3(UNC13D):c.683+9T>C
NM_199242.3(UNC13D):c.684-13C>T
NM_199242.3(UNC13D):c.684-14C>A
NM_199242.3(UNC13D):c.684-14C>G
NM_199242.3(UNC13D):c.684-16A>G
NM_199242.3(UNC13D):c.684-19G>A rs1472770205
NM_199242.3(UNC13D):c.684-3C>T
NM_199242.3(UNC13D):c.684-4G>A
NM_199242.3(UNC13D):c.684-6A>T
NM_199242.3(UNC13D):c.684-9C>G
NM_199242.3(UNC13D):c.68G>A (p.Arg23His)
NM_199242.3(UNC13D):c.68G>T (p.Arg23Leu)
NM_199242.3(UNC13D):c.694G>C (p.Glu232Gln) rs2064940709
NM_199242.3(UNC13D):c.699C>T (p.Ala233=)
NM_199242.3(UNC13D):c.69C>A (p.Arg23=)
NM_199242.3(UNC13D):c.702G>A (p.Arg234=)
NM_199242.3(UNC13D):c.704A>G (p.Lys235Arg) rs548198637
NM_199242.3(UNC13D):c.705G>A (p.Lys235=)
NM_199242.3(UNC13D):c.708del (p.Asp236fs)
NM_199242.3(UNC13D):c.70C>G (p.Arg24Gly) rs749234163
NM_199242.3(UNC13D):c.720C>T (p.Asp240=)
NM_199242.3(UNC13D):c.726T>C (p.Phe242=)
NM_199242.3(UNC13D):c.732G>A (p.Gly244=)
NM_199242.3(UNC13D):c.732G>C (p.Gly244=)
NM_199242.3(UNC13D):c.736G>A (p.Val246Met)
NM_199242.3(UNC13D):c.744G>A (p.Leu248=)
NM_199242.3(UNC13D):c.745A>G (p.Arg249Gly)
NM_199242.3(UNC13D):c.746G>A (p.Arg249Lys)
NM_199242.3(UNC13D):c.74G>C (p.Arg25Thr) rs1013790378
NM_199242.3(UNC13D):c.751C>T (p.Gln251Ter) rs2143893153
NM_199242.3(UNC13D):c.753+12G>A rs2064940233
NM_199242.3(UNC13D):c.753+17A>G
NM_199242.3(UNC13D):c.753+1G>A
NM_199242.3(UNC13D):c.753+20G>A
NM_199242.3(UNC13D):c.753+7A>C
NM_199242.3(UNC13D):c.754-15A>T rs2143892706
NM_199242.3(UNC13D):c.754-5G>A
NM_199242.3(UNC13D):c.754-9G>T
NM_199242.3(UNC13D):c.755_756dup (p.Leu253fs)
NM_199242.3(UNC13D):c.756C>T (p.Asp252=)
NM_199242.3(UNC13D):c.75A>G (p.Arg25=)
NM_199242.3(UNC13D):c.761G>A (p.Arg254His)
NM_199242.3(UNC13D):c.761G>T (p.Arg254Leu) rs774176637
NM_199242.3(UNC13D):c.762C>T (p.Arg254=)
NM_199242.3(UNC13D):c.762del (p.Cys255fs) rs1381855537
NM_199242.3(UNC13D):c.766C>G (p.Arg256Gly) rs121434352
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352
NM_199242.3(UNC13D):c.775C>G (p.Gln259Glu) rs2064938758
NM_199242.3(UNC13D):c.777G>A (p.Gln259=)
NM_199242.3(UNC13D):c.779G>A (p.Trp260Ter) rs943094444
NM_199242.3(UNC13D):c.780G>A (p.Trp260Ter)
NM_199242.3(UNC13D):c.780G>C (p.Trp260Cys) rs769371398
NM_199242.3(UNC13D):c.786C>T (p.Pro262=)
NM_199242.3(UNC13D):c.787del (p.Leu263fs)
NM_199242.3(UNC13D):c.789G>A (p.Leu263=)
NM_199242.3(UNC13D):c.797G>A (p.Arg266His) rs538734085
NM_199242.3(UNC13D):c.79dup (p.Arg27fs) rs1244919509
NM_199242.3(UNC13D):c.810C>T (p.Tyr270=)
NM_199242.3(UNC13D):c.814G>A (p.Asp272Asn)
NM_199242.3(UNC13D):c.82_83insCTCT (p.Asp28fs) rs2143904721
NM_199242.3(UNC13D):c.831C>T (p.His277=)
NM_199242.3(UNC13D):c.858+10G>A rs775728355
NM_199242.3(UNC13D):c.858+13C>G
NM_199242.3(UNC13D):c.858+14T>C
NM_199242.3(UNC13D):c.858+18C>G
NM_199242.3(UNC13D):c.858+18C>T
NM_199242.3(UNC13D):c.858+19C>T
NM_199242.3(UNC13D):c.858+7C>T
NM_199242.3(UNC13D):c.859-1G>C rs1388957809
NM_199242.3(UNC13D):c.859-3C>A rs563600513
NM_199242.3(UNC13D):c.859-7A>G
NM_199242.3(UNC13D):c.859-7A>T rs1599412377
NM_199242.3(UNC13D):c.861A>G (p.Arg287=)
NM_199242.3(UNC13D):c.865_877dup (p.Arg293fs) rs2064936948
NM_199242.3(UNC13D):c.870G>A (p.Ser290=)
NM_199242.3(UNC13D):c.873C>T (p.Ala291=) rs2064936969
NM_199242.3(UNC13D):c.877C>T (p.Arg293Cys)
NM_199242.3(UNC13D):c.883C>T (p.Gln295Ter) rs2143892028
NM_199242.3(UNC13D):c.888G>A (p.Pro296=) rs7223416
NM_199242.3(UNC13D):c.888G>C (p.Pro296=) rs7223416
NM_199242.3(UNC13D):c.888G>T (p.Pro296=)
NM_199242.3(UNC13D):c.895A>C (p.Thr299Pro) rs2143891988
NM_199242.3(UNC13D):c.897C>A (p.Thr299=)
NM_199242.3(UNC13D):c.897C>G (p.Thr299=)
NM_199242.3(UNC13D):c.897C>T (p.Thr299=) rs771228394
NM_199242.3(UNC13D):c.900G>A (p.Val300=)
NM_199242.3(UNC13D):c.902A>G (p.His301Arg) rs2143891961
NM_199242.3(UNC13D):c.903C>T (p.His301=) rs544643767
NM_199242.3(UNC13D):c.906C>G (p.Leu302=)
NM_199242.3(UNC13D):c.907C>T (p.His303Tyr) rs2064936586
NM_199242.3(UNC13D):c.909C>T (p.His303=)
NM_199242.3(UNC13D):c.912C>T (p.Leu304=)
NM_199242.3(UNC13D):c.91G>A (p.Asp31Asn)
NM_199242.3(UNC13D):c.924del (p.Val309fs)
NM_199242.3(UNC13D):c.934G>A (p.Glu312Lys)
NM_199242.3(UNC13D):c.942C>G (p.Thr314=)
NM_199242.3(UNC13D):c.943C>T (p.Gln315Ter)
NM_199242.3(UNC13D):c.948C>T (p.His316=)
NM_199242.3(UNC13D):c.949G>A (p.Glu317Lys) rs777818719
NM_199242.3(UNC13D):c.951+18C>G
NM_199242.3(UNC13D):c.951+9C>T
NM_199242.3(UNC13D):c.952-10C>T
NM_199242.3(UNC13D):c.952-14C>T
NM_199242.3(UNC13D):c.952-15A>G
NM_199242.3(UNC13D):c.952-16C>T
NM_199242.3(UNC13D):c.952-18T>G
NM_199242.3(UNC13D):c.952-19C>T
NM_199242.3(UNC13D):c.952-2A>G
NM_199242.3(UNC13D):c.952-4T>C rs2143891583
NM_199242.3(UNC13D):c.952-5C>A
NM_199242.3(UNC13D):c.952-9T>A
NM_199242.3(UNC13D):c.955G>A (p.Gly319Arg) rs2064935570
NM_199242.3(UNC13D):c.963C>T (p.Thr321=)
NM_199242.3(UNC13D):c.965_968delinsTTCATGCATACACCACATGAAACATCCTATCATCTGTAGGCTCATTCATTTCTCTAACAGCAGTAATA (p.Ser322_Trp323delinsPheHisAlaTyrThrThrTer)
NM_199242.3(UNC13D):c.970del (p.Asp324fs)
NM_199242.3(UNC13D):c.972C>G (p.Asp324Glu) rs368990813
NM_199242.3(UNC13D):c.975G>A (p.Gly325=)
NM_199242.3(UNC13D):c.981G>C (p.Leu327=)
NM_199242.3(UNC13D):c.984T>A (p.Ser328Arg) rs1352553189
NM_199242.3(UNC13D):c.98C>A (p.Pro33Gln)
NM_199242.3(UNC13D):c.98C>T (p.Pro33Leu) rs140437526
NM_199242.3(UNC13D):c.99G>T (p.Pro33=)
NM_199242.3(UNC13D):c.9A>G (p.Thr3=) rs376902386

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