ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8064
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HGVS dbSNP gnomAD frequency
NC_000011.9:g.111742146del rs10708475 1.00000
NM_024079.5(ALG8):c.478+35A>T rs518624 0.99999
NM_019109.5(ALG1):c.741-111T>C rs2110339 0.96843
NM_138459.5(NUS1):c.-16T>C rs9767451 0.94753
NM_019109.5(ALG1):c.391-24C>T rs4786590 0.94238
NM_019109.5(ALG1):c.630-55G>A rs7194217 0.94198
NM_019109.5(ALG1):c.540-111T>A rs11076869 0.94065
NM_024079.4(ALG8):c.*20A>G rs1263505 0.86211
NM_003863.4(DPM2):c.213T>C (p.Tyr71=) rs6781 0.80380
NM_003863.3(DPM2):c.-152A>G rs6478802 0.79362
NM_003863.3(DPM2):c.-628A>G rs3758327 0.79360
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser) rs7997 0.79357
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_024592.5(SRD5A3):c.*2589G>A rs819271 0.71550
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_024740.2(ALG9):c.*2473A>T rs2554994 0.69652
NM_004870.4(MPDU1):c.*308G>T rs4227 0.67099
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_052859.4(RFT1):c.*2887G>A rs2099162 0.65392
NM_024592.5(SRD5A3):c.*1069G>A rs501679 0.65365
NM_052859.4(RFT1):c.*450C>T rs2564922 0.63746
NM_024740.2(ALG9):c.1602+10449A>G rs610437 0.63674
NM_005216.5(DDOST):c.315C>T (p.Gly105=) rs4704 0.63408
NM_021645.6(UTP14C):c.254G>T (p.Gly85Val) rs3742289 0.63014
NM_024079.5(ALG8):c.898+139C>T rs624350 0.62975
NM_013339.4(ALG6):c.*761T>C rs3009572 0.60547
NM_013339.4(ALG6):c.494+74A>G rs6588028 0.59605
NM_021645.6(UTP14C):c.835C>T (p.Leu279=) rs3742291 0.56764
NM_019109.5(ALG1):c.1188-77G>T rs8056523 0.53440
NM_052859.4(RFT1):c.1103-24T>C rs2581829 0.50896
NM_019109.5(ALG1):c.863-70C>T rs1846689 0.50015
NM_019109.5(ALG1):c.863-84G>A rs1846690 0.50001
NM_019109.5(ALG1):c.1149C>T (p.Phe383=) rs1047732 0.48295
NM_052859.4(RFT1):c.*334A>G rs2564921 0.47829
NM_052859.4(RFT1):c.1623A>G (p.Thr541=) rs11242 0.47740
NM_052859.4(RFT1):c.*2646T>C rs891368 0.47736
NM_052859.4(RFT1):c.*2433C>T rs1078968 0.47710
NM_052859.4(RFT1):c.*2950C>T rs2082093 0.47683
NM_024740.2(ALG9):c.132-12dup rs1555157381 0.46207
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741 0.45813
NM_002633.3(PGM1):c.683-22A>T rs6588052 0.45082
NM_004341.5(CAD):c.4773A>G (p.Ala1591=) rs1141313 0.44315
NM_000303.3(PMM2):c.*252C>A rs2075828 0.41543
NM_021645.6(UTP14C):c.-22A>C rs3825528 0.40130
NM_152713.5(STT3A):c.996G>A (p.Ser332=) rs2241502 0.39463
NM_152713.5(STT3A):c.961+25C>T rs6590153 0.39437
NM_005216.5(DDOST):c.646-16C>T rs607254 0.38527
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val) rs643788 0.38193
NM_001382.4(DPAGT1):c.*184G>A rs8551 0.37865
NM_024079.5(ALG8):c.95+23G>T rs10793289 0.37596
NM_024105.4(ALG12):c.885A>G (p.Ala295=) rs8135963 0.36465
NM_002435.3(MPI):c.345+15G>A rs11638130 0.35866
NM_013339.4(ALG6):c.347-107A>G rs1012872 0.35371
NM_024592.5(SRD5A3):c.*321C>T rs13149568 0.35130
NM_001382.4(DPAGT1):c.*417T>C rs7759 0.29923
NM_002633.3(PGM1):c.1600-23G>T rs11208265 0.29721
NM_024740.2(ALG9):c.865G>A (p.Val289Ile) rs10502151 0.28588
NM_000303.3(PMM2):c.*997A>G rs1056898 0.28325
NM_024592.5(SRD5A3):c.*2005T>C rs819269 0.27879
NM_024592.5(SRD5A3):c.*70C>T rs2538 0.27858
NM_024592.5(SRD5A3):c.*546G>A rs573960 0.27847
NM_024592.5(SRD5A3):c.*2368G>A rs819270 0.27839
NM_024592.5(SRD5A3):c.*879C>T rs576732 0.27835
NM_152713.5(STT3A):c.1117+12C>T rs2241501 0.27654
NM_000303.3(PMM2):c.*175G>A rs2072688 0.26303
NM_001099922.3(ALG13):c.1435+5A>T rs5985638 0.26139
NM_002633.3(PGM1):c.1464+14G>T rs2269238 0.25474
NM_024105.4(ALG12):c.*51A>G rs1321 0.25423
NM_000303.3(PMM2):c.*136A>C rs2075827 0.24978
NM_024105.4(ALG12):c.664+9G>C rs9616368 0.23841
NM_024105.4(ALG12):c.664+12A>G rs9616204 0.23839
NM_005787.6(ALG3):c.*50T>G rs706584 0.23812
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_024105.4(ALG12):c.-141T>C rs9616378 0.22442
NM_052859.4(RFT1):c.*490T>A rs62255926 0.21145
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) rs11208257 0.21027
NM_013339.4(ALG6):c.-136C>G rs34542411 0.20075
NM_005216.5(DDOST):c.456+18C>T rs3738140 0.19425
NM_002633.3(PGM1):c.*198C>T rs10909 0.18377
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278 0.17617
NM_013339.4(ALG6):c.430-133T>C rs12755065 0.17545
NM_002633.3(PGM1):c.*93A>C rs4643 0.17191
NM_002633.3(PGM1):c.*22C>T rs8294 0.17190
NM_000303.3(PMM2):c.66+209C>T rs9939787 0.17150
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314 0.16859
NM_052859.4(RFT1):c.*2840T>A rs9875573 0.16647
NM_013339.4(ALG6):c.1058+111T>G rs4550089 0.16438
NM_052859.4(RFT1):c.*622C>G rs7645611 0.15942
NM_000303.3(PMM2):c.639+62C>T rs3743807 0.15368
NM_004870.4(MPDU1):c.685G>A (p.Ala229Thr) rs10852891 0.14975
NM_000303.3(PMM2):c.*96G>C rs11554040 0.14272
NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu) rs9745522 0.11789
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.11090
NM_001099922.3(ALG13):c.1293A>G (p.Pro431=) rs7063657 0.10892
NM_021645.6(UTP14C):c.301A>G (p.Thr101Ala) rs3742290 0.10387
NM_024105.4(ALG12):c.1177A>G (p.Ile393Val) rs3922872 0.09076
NM_024105.4(ALG12):c.163-19C>A rs11705497 0.07946
NM_002435.3(MPI):c.1053+31G>A rs12593975 0.07316
NM_019109.5(ALG1):c.723C>T (p.His241=) rs7195893 0.07135
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_002435.3(MPI):c.*58C>T rs2230479 0.06346
NM_052859.4(RFT1):c.267-20A>T rs73840213 0.05900
NM_033087.4(ALG2):c.31T>C (p.Ser11Pro) rs11545137 0.05446
NM_033087.4(ALG2):c.1100T>C (p.Val367Ala) rs35626507 0.05444
NM_178862.3(STT3B):c.778-17C>A rs11705765 0.05239
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290 0.04986
NM_052859.4(RFT1):c.553G>A (p.Ala185Thr) rs35221142 0.04860
NM_019109.5(ALG1):c.840G>C (p.Leu280=) rs12921879 0.04852
NM_024079.5(ALG8):c.862T>C (p.Leu288=) rs61995924 0.04685
NM_000303.3(PMM2):c.*1259C>G rs78698557 0.04619
NM_000303.3(PMM2):c.*560A>G rs2447928 0.04419
NM_024105.4(ALG12):c.99G>A (p.Val33=) rs76707654 0.04368
NM_001004127.3(ALG11):c.44+324T>C rs77505745 0.04331
NM_024740.2(ALG9):c.*2474A>T rs376483443 0.04275
NM_013339.4(ALG6):c.981T>C (p.Phe327=) rs75451833 0.04164
NM_005787.6(ALG3):c.591T>C (p.Gly197=) rs2233464 0.04116
NM_001004127.3(ALG11):c.44+154G>A rs111871296 0.04085
NM_002633.3(PGM1):c.1145-7C>G rs72922609 0.04055
NM_013339.4(ALG6):c.*1322A>G rs75309742 0.04045
NM_052859.4(RFT1):c.*146C>T rs72965388 0.03697
NM_052859.4(RFT1):c.*1803T>A rs114029473 0.03680
NM_052859.4(RFT1):c.*1804C>T rs114515847 0.03678
NM_024592.5(SRD5A3):c.*2063G>A rs73236134 0.03578
NM_024592.5(SRD5A3):c.*1706G>A rs147485112 0.03469
NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser) rs16956808 0.03297
NM_000303.3(PMM2):c.*1360C>T rs72766381 0.03294
NM_001004127.3(ALG11):c.933G>A (p.Pro311=) rs61958802 0.03255
NM_024105.4(ALG12):c.*240G>A rs76848348 0.03225
NM_024740.2(ALG9):c.*1848G>A rs45620134 0.03051
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_002633.3(PGM1):c.1280+7C>T rs72922610 0.02818
NM_024105.4(ALG12):c.1029G>A (p.Ala343=) rs62233155 0.02811
NM_052859.4(RFT1):c.*1975C>T rs75112182 0.02786
NM_002633.3(PGM1):c.*37G>A rs61765314 0.02669
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727 0.02624
NM_024740.2(ALG9):c.406-7C>T rs45574638 0.02566
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_013339.4(ALG6):c.*844T>C rs2884922 0.02393
NM_024592.5(SRD5A3):c.*275G>T rs145768388 0.02343
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367 0.02294
NM_005216.4(DDOST):c.22G>C (p.Gly8Arg) rs537816 0.02282
NM_005216.5(DDOST):c.831C>T (p.Ala277=) rs6692016 0.02273
NM_024105.4(ALG12):c.*280G>A rs116765369 0.02266
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668 0.02180
NM_024079.5(ALG8):c.1039-5T>C rs112211908 0.02114
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_002435.3(MPI):c.684C>T (p.Asn228=) rs139190144 0.01985
NM_014908.4(DOLK):c.-49A>G rs116439010 0.01852
NM_033087.4(ALG2):c.129C>G (p.Arg43=) rs35055733 0.01831
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_024740.2(ALG9):c.*1220C>T rs114406340 0.01795
NM_000303.3(PMM2):c.*534G>A rs2447929 0.01770
NM_002435.3(MPI):c.*358G>A rs117375132 0.01763
NM_052859.4(RFT1):c.*1009G>A rs73840205 0.01686
NM_005216.5(DDOST):c.66G>A (p.Ala22=) rs17837938 0.01665
NM_002633.3(PGM1):c.*130C>T rs2749098 0.01573
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) rs17480245 0.01560
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416 0.01523
NM_002633.3(PGM1):c.1599+9C>T rs115864084 0.01520
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652 0.01515
NM_024592.5(SRD5A3):c.*1859C>T rs1047343 0.01513
NM_024592.5(SRD5A3):c.*1601G>A rs111238066 0.01486
NM_013339.4(ALG6):c.678G>T (p.Lys226Asn) rs35604168 0.01480
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673 0.01465
NM_024592.5(SRD5A3):c.-40G>A rs111568566 0.01461
NM_052859.4(RFT1):c.64-14C>T rs78419624 0.01456
NM_001382.4(DPAGT1):c.*427T>G rs28990975 0.01379
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637 0.01375
NM_000303.3(PMM2):c.*994A>T rs113234190 0.01373
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys) rs112668461 0.01358
NM_024105.4(ALG12):c.469+13C>T rs78916708 0.01349
NM_002633.3(PGM1):c.*406T>C rs11557104 0.01321
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_178862.3(STT3B):c.777+7T>G rs76400963 0.01303
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val) rs41285372 0.01295
NM_024740.2(ALG9):c.*1671T>C rs116003998 0.01295
NM_178862.3(STT3B):c.2406C>A (p.Thr802=) rs17027884 0.01283
NM_003863.3(DPM2):c.-382C>T rs112813338 0.01257
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_002435.3(MPI):c.345+16C>T rs143242949 0.01224
NM_013339.4(ALG6):c.*268C>T rs114111123 0.01221
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_024592.5(SRD5A3):c.*2641G>A rs75311188 0.01148
NM_005787.6(ALG3):c.319A>G (p.Ile107Val) rs2233463 0.01115
NM_178862.3(STT3B):c.477A>G (p.Thr159=) rs139496568 0.01086
NM_002633.3(PGM1):c.247-5664G>A rs77043134 0.01056
NM_005216.5(DDOST):c.265+9T>A rs79243170 0.01029
NM_003863.4(DPM2):c.183G>A (p.Leu61=) rs11552794 0.01027
NM_024592.5(SRD5A3):c.*1329T>C rs115046277 0.01012
NM_013339.4(ALG6):c.-121T>G rs116034504 0.00994
NM_024740.2(ALG9):c.132-17T>G rs782169051 0.00984
NM_000303.3(PMM2):c.*166C>G rs115474235 0.00982
NM_024740.2(ALG9):c.132-13T>G rs72994380 0.00979
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326 0.00950
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_003863.4(DPM2):c.177C>T (p.Leu59=) rs35334863 0.00922
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348 0.00918
NM_000303.3(PMM2):c.*17G>A rs9936097 0.00905
NM_052859.4(RFT1):c.*799T>A rs148552528 0.00885
NM_024105.4(ALG12):c.939C>T (p.Ile313=) rs114335781 0.00874
NM_001382.4(DPAGT1):c.918-18G>A rs145206990 0.00859
NM_002435.3(MPI):c.762C>T (p.Ile254=) rs12440159 0.00855
NM_024592.5(SRD5A3):c.*2984A>G rs73816266 0.00855
NM_024592.5(SRD5A3):c.*2112G>A rs143649104 0.00838
NM_013339.4(ALG6):c.*1415T>G rs148327539 0.00827
NM_024105.4(ALG12):c.768+17G>A rs145358718 0.00827
NM_024740.2(ALG9):c.*1607C>T rs117488631 0.00826
NM_013339.4(ALG6):c.*1434T>C rs141443584 0.00822
NM_024740.2(ALG9):c.*3750A>C rs114397288 0.00792
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_178862.3(STT3B):c.1764C>T (p.Tyr588=) rs34176522 0.00770
NM_001099922.3(ALG13):c.2401+12C>A rs150294098 0.00767
NM_024079.5(ALG8):c.175-18C>A rs73501260 0.00743
NM_005216.5(DDOST):c.-12A>C rs61739382 0.00736
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_052859.4(RFT1):c.*1533G>A rs139197209 0.00724
NM_052859.4(RFT1):c.*2655T>C rs148022607 0.00723
NM_003859.3(DPM1):c.84G>C (p.Ser28=) rs16995639 0.00708
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863 0.00705
NM_024592.5(SRD5A3):c.*2915A>G rs62306203 0.00701
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342 0.00672
NM_024740.2(ALG9):c.1473-14T>C rs187507214 0.00657
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749 0.00652
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_000303.3(PMM2):c.640-46G>A rs113866602 0.00632
NM_005216.5(DDOST):c.663G>A (p.Gly221=) rs41307775 0.00625
NM_024079.5(ALG8):c.896T>C (p.Ile299Thr) rs61995922 0.00615
NM_000303.3(PMM2):c.*368C>G rs72766379 0.00580
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_024105.4(ALG12):c.645G>A (p.Pro215=) rs12167668 0.00577
NM_024740.2(ALG9):c.*1680G>T rs563719515 0.00575
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) rs144692793 0.00569
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_004341.5(CAD):c.5058C>T (p.Asp1686=) rs61757649 0.00528
NM_004870.4(MPDU1):c.*462C>T rs545206972 0.00524
NM_024105.4(ALG12):c.698G>A (p.Arg233Gln) rs114264124 0.00516
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_024740.2(ALG9):c.*1624A>C rs117091304 0.00485
NM_019109.5(ALG1):c.1080G>A (p.Ala360=) rs143939207 0.00467
NM_000303.3(PMM2):c.*915T>A rs114954775 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_013339.4(ALG6):c.*1136C>T rs143324400 0.00429
NM_021645.6(UTP14C):c.508A>G (p.Ile170Val) rs73184339 0.00421
NM_013339.4(ALG6):c.*961C>T rs144020923 0.00415
NM_021645.6(UTP14C):c.-42G>A rs140978619 0.00414
NM_004870.4(MPDU1):c.618+14C>T rs11078699 0.00407
NM_052859.4(RFT1):c.*2165T>C rs141744872 0.00407
NM_052859.4(RFT1):c.*2706C>T rs186393432 0.00407
NM_024105.4(ALG12):c.1163-19G>A rs200745798 0.00396
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531 0.00394
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623 0.00390
NM_024105.4(ALG12):c.48G>C (p.Leu16=) rs143508665 0.00377
NM_002633.3(PGM1):c.573G>A (p.Ser191=) rs112502842 0.00373
NM_052859.4(RFT1):c.*2820G>A rs143710210 0.00369
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile) rs150818619 0.00365
NM_000303.3(PMM2):c.*492C>G rs548732618 0.00352
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=) rs143967675 0.00348
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_001382.4(DPAGT1):c.*159G>A rs74992671 0.00320
NM_005216.5(DDOST):c.1176C>T (p.Ser392=) rs149576051 0.00320
NM_019109.5(ALG1):c.334A>C (p.Met112Leu) rs113219939 0.00315
NM_019109.5(ALG1):c.539+16G>A rs189715949 0.00311
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062 0.00299
NM_024592.5(SRD5A3):c.*991C>T rs148298848 0.00298
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_178862.3(STT3B):c.1172+15A>G rs60153256 0.00288
NM_024592.5(SRD5A3):c.*1624G>A rs181336685 0.00283
NM_024105.4(ALG12):c.1155C>T (p.Pro385=) rs113652023 0.00282
NM_024592.5(SRD5A3):c.*104T>A rs116416011 0.00280
NM_033087.4(ALG2):c.349-17A>G rs193069827 0.00275
NM_033087.4(ALG2):c.84C>G (p.Gly28=) rs61744789 0.00268
NM_019109.5(ALG1):c.867C>T (p.Asp289=) rs144029725 0.00265
NM_024740.2(ALG9):c.*2230A>C rs116530919 0.00264
NM_024740.2(ALG9):c.*3471A>G rs186742619 0.00264
NM_003863.4(DPM2):c.3+12A>G rs2274425 0.00262
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_024740.2(ALG9):c.132-16T>G rs781960988 0.00248
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_019109.4(ALG1):c.191C>A (p.Thr64Asn) rs145474820 0.00246
NM_178862.3(STT3B):c.372T>C (p.Asn124=) rs150886803 0.00245
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298 0.00238
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) rs77191760 0.00238
NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys) rs145762575 0.00235
NM_024592.5(SRD5A3):c.*2884C>T rs529368289 0.00230
NM_002435.3(MPI):c.414G>A (p.Met138Ile) rs150217523 0.00227
NM_004870.4(MPDU1):c.662C>G (p.Ser221Cys) rs147742866 0.00227
NM_024740.2(ALG9):c.*2743T>C rs139048490 0.00222
NM_019109.5(ALG1):c.1092C>G (p.Val364=) rs113602091 0.00221
NM_052859.4(RFT1):c.382C>T (p.Leu128Phe) rs140127085 0.00219
NM_019109.5(ALG1):c.1222C>T (p.Leu408=) rs149319732 0.00217
NM_024105.4(ALG12):c.501C>T (p.His167=) rs149845730 0.00212
NM_052859.4(RFT1):c.1118G>A (p.Arg373His) rs77976718 0.00211
NM_014908.4(DOLK):c.771C>T (p.Ile257=) rs147416890 0.00205
NM_024105.4(ALG12):c.*1G>C rs138804791 0.00205
NM_005216.5(DDOST):c.776C>T (p.Ala259Val) rs138061134 0.00201
NM_002633.3(PGM1):c.18A>G (p.Thr6=) rs111246749 0.00193
NM_024740.2(ALG9):c.*1722C>T rs186477879 0.00192
NM_052859.4(RFT1):c.5G>A (p.Gly2Asp) rs185366134 0.00187
NM_013339.4(ALG6):c.-207-12T>C rs183861757 0.00186
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177 0.00186
NM_201400.4(EEF2KMT):c.957G>C (p.Glu319Asp) rs142385356 0.00184
NM_005216.5(DDOST):c.353-11G>C rs202107268 0.00182
NM_004870.4(MPDU1):c.393C>T (p.Val131=) rs79286384 0.00178
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu) rs79144888 0.00178
NM_024740.2(ALG9):c.*3423T>C rs78243190 0.00176
NM_024592.5(SRD5A3):c.*2870A>G rs77437700 0.00173
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_024592.5(SRD5A3):c.-84G>C rs532409901 0.00170
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp) rs117175017 0.00169
NM_024105.4(ALG12):c.359G>A (p.Arg120Gln) rs117687848 0.00169
NM_013339.4(ALG6):c.1398A>T (p.Leu466=) rs140158304 0.00167
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile) rs145940009 0.00165
NM_024740.2(ALG9):c.1603-509A>G rs115136012 0.00163
NM_024079.5(ALG8):c.96-6G>C rs199911532 0.00160
NM_001004127.3(ALG11):c.44+20G>T rs200503510 0.00153
NM_024740.2(ALG9):c.790-11C>T rs188241987 0.00152
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_005216.5(DDOST):c.1209C>T (p.Arg403=) rs148883998 0.00148
NM_024740.2(ALG9):c.*3519C>A rs569799426 0.00145
NM_024105.4(ALG12):c.*363G>A rs568473076 0.00144
NM_003859.3(DPM1):c.296-12T>C rs200030885 0.00143
NM_178862.3(STT3B):c.2073+14T>C rs59520046 0.00143
NM_003859.3(DPM1):c.398+13T>C rs201703497 0.00140
NM_052859.4(RFT1):c.1400T>G (p.Leu467Arg) rs144042263 0.00140
NM_004341.5(CAD):c.83-3C>T rs151119882 0.00138
NM_024079.5(ALG8):c.675T>C (p.Asp225=) rs139106381 0.00138
NM_024592.5(SRD5A3):c.*242T>C rs559061546 0.00138
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn) rs150266274 0.00137
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_000303.3(PMM2):c.*1074T>C rs147284732 0.00129
NM_002633.3(PGM1):c.*236T>C rs534628770 0.00128
NM_012463.4(ATP6V0A2):c.1039-12T>C rs190537134 0.00128
NM_024740.2(ALG9):c.1792T>C (p.Tyr598His) rs201194863 0.00128
NM_001382.4(DPAGT1):c.918-5C>T rs191573465 0.00126
NM_052859.4(RFT1):c.*645C>T rs115646874 0.00126
NM_138459.5(NUS1):c.197G>C (p.Arg66Pro) rs539668656 0.00122
NM_024740.2(ALG9):c.*1420C>G rs143933458 0.00121
NM_033087.4(ALG2):c.288C>T (p.Phe96=) rs542863968 0.00121
NM_003863.4(DPM2):c.64A>G (p.Thr22Ala) rs7042788 0.00120
NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly) rs145245774 0.00119
NM_001382.4(DPAGT1):c.573C>T (p.Asn191=) rs62641715 0.00117
NM_001382.4(DPAGT1):c.1161+16G>A rs201301096 0.00116
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720 0.00116
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg) rs150646335 0.00116
NM_024105.4(ALG12):c.*393C>T rs550904403 0.00114
NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu) rs199975696 0.00114
NM_021645.6(UTP14C):c.739A>G (p.Lys247Glu) rs144970453 0.00113
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255 0.00111
NM_024592.5(SRD5A3):c.*2306C>A rs565143999 0.00111
NM_001382.4(DPAGT1):c.*241T>C rs74657539 0.00109
NM_178862.3(STT3B):c.2322A>G (p.Ala774=) rs140420950 0.00109
NM_052859.4(RFT1):c.303C>G (p.Gly101=) rs148576979 0.00108
NM_024592.5(SRD5A3):c.*590C>T rs149214750 0.00105
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_052859.4(RFT1):c.826+7T>C rs192264403 0.00103
NM_000303.3(PMM2):c.*410A>G rs77027373 0.00102
NM_001099922.3(ALG13):c.150C>T (p.Pro50=) rs147897682 0.00102
NM_005787.6(ALG3):c.845C>T (p.Ala282Val) rs2233466 0.00102
NM_014908.4(DOLK):c.700A>G (p.Met234Val) rs139787271 0.00102
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser) rs35496669 0.00101
NM_005216.5(DDOST):c.711C>T (p.Arg237=) rs34189097 0.00099
NM_005216.5(DDOST):c.893G>A (p.Arg298Gln) rs117925699 0.00098
NM_019109.5(ALG1):c.8C>A (p.Ala3Asp) rs559805054 0.00096
NM_024592.5(SRD5A3):c.*621C>T rs548604752 0.00096
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_021645.6(UTP14C):c.326T>A (p.Val109Asp) rs144752647 0.00095
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921 0.00094
NM_019109.5(ALG1):c.21C>T (p.Val7=) rs149388535 0.00093
NM_024740.2(ALG9):c.*3757T>C rs530143933 0.00093
NM_019109.5(ALG1):c.787C>T (p.Arg263Trp) rs145317306 0.00091
NM_024740.2(ALG9):c.*971C>T rs140187723 0.00090
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102 0.00089
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_024592.5(SRD5A3):c.*854G>T rs79421332 0.00088
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly) rs141467923 0.00087
NM_000303.3(PMM2):c.*833G>A rs144056509 0.00086
NM_002435.3(MPI):c.*312T>A rs545401402 0.00086
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00085
NM_024105.4(ALG12):c.1299C>T (p.Leu433=) rs150614794 0.00083
NM_024105.4(ALG12):c.768+16C>T rs558809803 0.00083
NM_005216.5(DDOST):c.36C>G (p.Leu12=) rs143329944 0.00081
NM_019109.5(ALG1):c.766G>A (p.Glu256Lys) rs147412842 0.00081
NM_024592.5(SRD5A3):c.364+19T>C rs201315974 0.00081
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu) rs146967928 0.00078
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_021645.6(UTP14C):c.-486-6T>C rs200751186 0.00078
NM_024592.5(SRD5A3):c.*812T>C rs758820353 0.00078
NM_024740.2(ALG9):c.*3175G>A rs146182772 0.00078
NM_003863.3(DPM2):c.-587C>T rs566910080 0.00077
NM_024740.2(ALG9):c.*314G>A rs781928817 0.00077
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880 0.00076
NM_000303.3(PMM2):c.639+19G>C rs145473288 0.00074
NM_014908.4(DOLK):c.671A>T (p.Asp224Val) rs17485436 0.00074
NM_000303.3(PMM2):c.640-13C>T rs372181885 0.00073
NM_001382.4(DPAGT1):c.918-4G>A rs201656540 0.00073
NM_014908.4(DOLK):c.873C>T (p.Leu291=) rs148646968 0.00073
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu) rs147971989 0.00072
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523 0.00071
NM_024740.2(ALG9):c.1762G>T (p.Val588Phe) rs150225347 0.00071
NM_024592.5(SRD5A3):c.672C>T (p.Leu224=) rs144834899 0.00070
NM_002633.3(PGM1):c.247-5696A>T rs200881174 0.00069
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267 0.00068
NM_001382.4(DPAGT1):c.643+11T>A rs185858377 0.00067
NM_005216.5(DDOST):c.148C>T (p.Leu50=) rs143421115 0.00066
NM_024105.4(ALG12):c.319G>A (p.Val107Met) rs147784926 0.00066
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_024592.5(SRD5A3):c.*1665G>A rs534350836 0.00065
NM_024592.5(SRD5A3):c.*2248G>A rs757166668 0.00065
NM_138459.5(NUS1):c.63G>T (p.Thr21=) rs550854234 0.00065
NM_003863.3(DPM2):c.-429G>T rs192275912 0.00064
NM_005216.5(DDOST):c.508G>A (p.Val170Ile) rs111334879 0.00063
NM_033087.4(ALG2):c.348+6G>A rs368075764 0.00063
NM_052859.4(RFT1):c.*2366T>A rs575340631 0.00063
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys) rs138840581 0.00062
NM_024740.2(ALG9):c.945T>C (p.Asn315=) rs185555263 0.00062
NM_001382.4(DPAGT1):c.-152C>T rs540454811 0.00061
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=) rs199994118 0.00061
NM_003863.3(DPM2):c.*627C>T rs544907409 0.00061
NM_024079.5(ALG8):c.682A>G (p.Ile228Val) rs150736564 0.00061
NM_024105.4(ALG12):c.652A>G (p.Ile218Val) rs146322225 0.00061
NM_024105.4(ALG12):c.665G>C (p.Gly222Ala) rs149209714 0.00061
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091 0.00060
NM_002633.3(PGM1):c.-39C>G rs370035290 0.00060
NM_019109.5(ALG1):c.902-20G>A rs74249172 0.00059
NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile) rs148434423 0.00058
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=) rs748742452 0.00058
NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val) rs369167525 0.00058
NM_014908.4(DOLK):c.1114T>A (p.Phe372Ile) rs146395561 0.00058
NM_024105.4(ALG12):c.469+5G>A rs375025860 0.00058
NM_024740.2(ALG9):c.*823A>G rs528387467 0.00058
NM_052859.4(RFT1):c.47C>G (p.Ser16Cys) rs148716754 0.00058
NM_005787.6(ALG3):c.222C>T (p.Tyr74=) rs200875721 0.00056
NM_019109.5(ALG1):c.888G>A (p.Leu296=) rs577972473 0.00056
NM_024105.4(ALG12):c.563G>A (p.Cys188Tyr) rs555600636 0.00055
NM_033087.4(ALG2):c.475A>G (p.Ile159Val) rs146770430 0.00055
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys) rs56393253 0.00054
NM_024740.2(ALG9):c.405+7G>A rs372345664 0.00053
NM_019109.5(ALG1):c.991C>T (p.Arg331Cys) rs148933850 0.00052
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_000303.3(PMM2):c.*896G>A rs78930414 0.00051
NM_005216.5(DDOST):c.596C>T (p.Thr199Met) rs142593688 0.00051
NM_005216.5(DDOST):c.142C>T (p.Arg48Trp) rs140409217 0.00050
NM_024079.5(ALG8):c.869A>G (p.Asn290Ser) rs61995923 0.00050
NM_005787.6(ALG3):c.971C>G (p.Ser324Cys) rs2233469 0.00049
NM_052859.4(RFT1):c.457-10_457-9del rs778675860 0.00049
NM_001099922.3(ALG13):c.1327-19A>G rs375412069 0.00048
NM_033087.4(ALG2):c.216G>T (p.Gly72=) rs531748488 0.00048
NM_052859.4(RFT1):c.520T>C (p.Leu174=) rs149266076 0.00048
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045 0.00047
NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val) rs147641581 0.00047
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val) rs368075878 0.00046
NM_002435.3(MPI):c.670+11T>C rs144118442 0.00046
NM_005216.5(DDOST):c.712G>A (p.Val238Ile) rs150551993 0.00046
NM_019109.5(ALG1):c.391-15C>G rs374836725 0.00046
NM_024740.2(ALG9):c.537C>T (p.Leu179=) rs199614437 0.00046
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys) rs143232904 0.00046
NM_001004127.2(ALG11):c.-23C>T rs201534348 0.00045
NM_001099922.3(ALG13):c.1006-14G>A rs760527824 0.00045
NM_002633.3(PGM1):c.1143C>T (p.Thr381=) rs140035988 0.00045
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) rs139509075 0.00045
NM_013339.4(ALG6):c.*404T>C rs138529811 0.00045
NM_014908.4(DOLK):c.525T>G (p.Val175=) rs200278288 0.00045
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_024105.4(ALG12):c.867C>T (p.His289=) rs147801200 0.00045
NM_001004127.3(ALG11):c.1160A>C (p.Glu387Ala) rs115524395 0.00044
NM_004870.4(MPDU1):c.560C>T (p.Ala187Val) rs139686892 0.00044
NM_013339.4(ALG6):c.1452C>T (p.Phe484=) rs150298974 0.00044
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977 0.00044
NM_019109.4(ALG1):c.60G>A (p.Leu20=) rs78694906 0.00043
NM_024740.2(ALG9):c.*1977A>G rs181231005 0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_005216.5(DDOST):c.917A>G (p.Asn306Ser) rs764755742 0.00042
NM_001382.4(DPAGT1):c.729-4A>C rs199873583 0.00041
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033 0.00041
NM_024105.4(ALG12):c.1362C>T (p.Val454=) rs12163163 0.00041
NM_024105.4(ALG12):c.242C>T (p.Ala81Val) rs142586266 0.00041
NM_178862.3(STT3B):c.2401-17G>T rs370120522 0.00041
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006 0.00040
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp) rs144040842 0.00039
NM_001099922.3(ALG13):c.1971G>A (p.Met657Ile) rs1290639452 0.00039
NM_001099922.3(ALG13):c.2248-15G>C rs139711892 0.00039
NM_005787.6(ALG3):c.16C>A (p.Arg6=) rs199587005 0.00039
NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly) rs145292760 0.00039
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901 0.00039
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu) rs146171115 0.00039
NM_002633.3(PGM1):c.1290C>T (p.Tyr430=) rs140357031 0.00038
NM_002633.3(PGM1):c.987C>T (p.Arg329=) rs79097301 0.00038
NM_003863.4(DPM2):c.*553G>A rs886063480 0.00038
NM_024105.4(ALG12):c.1345C>T (p.Arg449Trp) rs141814567 0.00038
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00037
NM_024105.4(ALG12):c.465T>C (p.Pro155=) rs201564211 0.00037
NM_001099922.3(ALG13):c.1729+14A>G rs763484848 0.00036
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00036
NM_019109.5(ALG1):c.1089T>G (p.Gly363=) rs146526768 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_024105.4(ALG12):c.1425G>C (p.Gln475His) rs147000290 0.00036
NM_024740.2(ALG9):c.1332C>T (p.His444=) rs139516254 0.00036
NM_052859.4(RFT1):c.436C>T (p.His146Tyr) rs201794647 0.00036
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser) rs149808406 0.00035
NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys) rs145518377 0.00035
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_024592.5(SRD5A3):c.*2430C>T rs537128790 0.00035
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=) rs138519099 0.00034
NM_003859.3(DPM1):c.19A>G (p.Ser7Gly) rs147804856 0.00034
NM_004870.4(MPDU1):c.338C>T (p.Thr113Met) rs141320993 0.00034
NM_005216.5(DDOST):c.384C>T (p.Cys128=) rs148134377 0.00034
NM_005787.6(ALG3):c.669C>T (p.Leu223=) rs146607327 0.00034
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) rs146156426 0.00034
NM_024740.2(ALG9):c.*2114C>T rs45452093 0.00034
NM_024740.2(ALG9):c.*2287A>G rs185264895 0.00034
NM_024740.2(ALG9):c.*2414T>G rs189536081 0.00034
NM_052859.4(RFT1):c.*3068A>C rs571109920 0.00034
NM_052859.4(RFT1):c.1356C>T (p.Arg452=) rs113829901 0.00034
NM_012463.4(ATP6V0A2):c.1327-16G>A rs149092701 0.00033
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024 0.00033
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu) rs201959100 0.00033
NM_024592.5(SRD5A3):c.51G>T (p.Ala17=) rs201123766 0.00032
NM_024740.2(ALG9):c.*1536T>C rs782678326 0.00032
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_153741.2(DPM3):c.55G>T (p.Val19Leu) rs141877691 0.00032
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) rs146432805 0.00031
NM_002435.3(MPI):c.214A>C (p.Ser72Arg) rs146699267 0.00031
NM_005216.5(DDOST):c.1293C>T (p.His431=) rs117634838 0.00031
NM_014908.4(DOLK):c.1394G>A (p.Arg465His) rs148930043 0.00031
NM_019109.5(ALG1):c.769C>T (p.Arg257Trp) rs759843220 0.00031
NM_024079.5(ALG8):c.1506C>T (p.Gly502=) rs148820351 0.00031
NM_024740.2(ALG9):c.1659C>T (p.Pro553=) rs2276263 0.00031
NM_003859.3(DPM1):c.*248T>A rs1020154329 0.00030
NM_012463.4(ATP6V0A2):c.1106G>A (p.Arg369Gln) rs141310219 0.00030
NM_015354.3(NUP188):c.8C>T (p.Ala3Val) rs746695959 0.00030
NM_024105.4(ALG12):c.*475G>A rs186563620 0.00030
NM_138459.5(NUS1):c.537T>A (p.Asp179Glu) rs28362519 0.00030
NM_000303.3(PMM2):c.*1434C>A rs546341789 0.00029
NM_000303.3(PMM2):c.*477G>A rs529074146 0.00029
NM_001382.4(DPAGT1):c.*265A>G rs28990974 0.00029
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) rs375679649 0.00029
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys) rs201392536 0.00029
NM_004870.4(MPDU1):c.537C>T (p.Asn179=) rs149675859 0.00029
NM_138459.5(NUS1):c.174G>T (p.Lys58Asn) rs761121795 0.00029
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) rs139332887 0.00028
NM_012463.4(ATP6V0A2):c.1936-7C>T rs370135665 0.00028
NM_052859.4(RFT1):c.*2457A>G rs560974236 0.00028
NM_153741.2(DPM3):c.112C>T (p.Leu38=) rs368529799 0.00028
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872 0.00027
NM_002435.3(MPI):c.819C>T (p.Asn273=) rs576592379 0.00027
NM_003863.3(DPM2):c.-211T>G rs187834148 0.00027
NM_004341.5(CAD):c.461A>G (p.Asn154Ser) rs147694325 0.00027
NM_001004127.3(ALG11):c.256T>G (p.Leu86Val) rs182350911 0.00026
NM_002435.3(MPI):c.1050G>A (p.Thr350=) rs145431554 0.00026
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) rs145972303 0.00026
NM_005216.5(DDOST):c.509T>C (p.Val170Ala) rs146767054 0.00026
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089 0.00026
NM_013339.4(ALG6):c.*47A>T rs372767276 0.00026
NM_014908.4(DOLK):c.1512T>C (p.Ala504=) rs183735415 0.00026
NM_019109.5(ALG1):c.694C>T (p.Arg232Trp) rs148301670 0.00026
NM_024740.2(ALG9):c.741G>T (p.Arg247Ser) rs200946042 0.00026
NM_052859.4(RFT1):c.*2790G>A rs866438979 0.00026
NM_178862.3(STT3B):c.136G>A (p.Gly46Ser) rs527396203 0.00026
NM_002435.3(MPI):c.671-4T>G rs199719453 0.00025
NM_002633.3(PGM1):c.734C>T (p.Ala245Val) rs929270819 0.00025
NM_005216.5(DDOST):c.352+9G>A rs367895981 0.00025
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr) rs143676440 0.00025
NM_024740.2(ALG9):c.1489A>G (p.Ile497Val) rs138584071 0.00025
NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp) rs199995104 0.00025
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779 0.00024
NM_002435.3(MPI):c.908T>C (p.Ile303Thr) rs139866632 0.00024
NM_003863.3(DPM2):c.-612G>C rs886063487 0.00024
NM_005787.6(ALG3):c.933-4C>T rs190571910 0.00024
NM_013339.4(ALG6):c.963T>A (p.Ser321=) rs141511876 0.00024
NM_014908.3(DOLK):c.-386C>A rs576979416 0.00024
NM_024105.4(ALG12):c.1068C>T (p.Ala356=) rs371321442 0.00024
NM_024105.4(ALG12):c.470-11C>T rs375328311 0.00024
NM_178862.3(STT3B):c.2366A>G (p.Asn789Ser) rs139208333 0.00024
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427 0.00023
NM_001099922.3(ALG13):c.886-16C>A rs780688383 0.00023
NM_002633.3(PGM1):c.735G>A (p.Ala245=) rs146028700 0.00023
NM_004870.4(MPDU1):c.*105G>A rs190574792 0.00023
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys) rs144949442 0.00023
NM_019109.5(ALG1):c.540-13T>C rs201477967 0.00023
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321 0.00023
NM_024740.2(ALG9):c.*2472T>A rs886047667 0.00023
NM_052859.4(RFT1):c.*127G>A rs570767824 0.00023
NM_138459.5(NUS1):c.578C>T (p.Pro193Leu) rs146009370 0.00023
NM_002435.3(MPI):c.573C>T (p.Ala191=) rs200903491 0.00022
NM_003859.3(DPM1):c.385C>A (p.Pro129Thr) rs752831768 0.00022
NM_005787.6(ALG3):c.*152C>T rs186599528 0.00022
NM_024740.2(ALG9):c.*2457G>T rs201995459 0.00022
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr) rs140382423 0.00022
NM_138459.5(NUS1):c.69C>G (p.Thr23=) rs568916715 0.00022
NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr) rs202195109 0.00021
NM_001099922.3(ALG13):c.2933-14A>G rs755886617 0.00021
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln) rs112355069 0.00021
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_002633.3(PGM1):c.420A>G (p.Pro140=) rs141007881 0.00021
NM_003859.3(DPM1):c.357T>C (p.Ala119=) rs371895653 0.00021
NM_005216.5(DDOST):c.1170+16dup rs566726706 0.00021
NM_005216.5(DDOST):c.894G>C (p.Arg298=) rs145327708 0.00021
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=) rs138172178 0.00021
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442 0.00021
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376 0.00021
NM_024079.5(ALG8):c.175-13A>G rs186117363 0.00021
NM_024105.4(ALG12):c.966C>T (p.Ile322=) rs573103699 0.00021
NM_024740.2(ALG9):c.*3213G>A rs939244636 0.00021
NM_052859.4(RFT1):c.*2789C>T rs371144725 0.00021
NM_052859.4(RFT1):c.831G>A (p.Val277=) rs150391936 0.00021
NM_000303.3(PMM2):c.*242C>T rs866278750 0.00020
NM_001099922.3(ALG13):c.2269A>G (p.Met757Val) rs1451116623 0.00020
NM_013339.4(ALG6):c.882T>C (p.Arg294=) rs145894044 0.00020
NM_014908.4(DOLK):c.159C>G (p.Ala53=) rs199857223 0.00020
NM_019109.5(ALG1):c.480C>T (p.Gly160=) rs140674382 0.00020
NM_052859.4(RFT1):c.266C>T (p.Thr89Ile) rs199788972 0.00020
NM_052859.4(RFT1):c.632C>T (p.Thr211Ile) rs148289202 0.00020
NM_138459.5(NUS1):c.224G>A (p.Gly75Glu) rs557867164 0.00020
NM_000303.3(PMM2):c.*52C>T rs565165106 0.00019
NM_000303.3(PMM2):c.*733C>T rs886052466 0.00019
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_001004127.3(ALG11):c.1452A>G (p.Leu484=) rs188332164 0.00019
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) rs150101415 0.00019
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe) rs150532554 0.00019
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588 0.00019
NM_003863.3(DPM2):c.-523C>A rs1010662067 0.00019
NM_012463.4(ATP6V0A2):c.1039-13G>T rs375793162 0.00019
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057 0.00019
NM_014908.4(DOLK):c.*124A>G rs758102948 0.00019
NM_014908.4(DOLK):c.1437T>C (p.Ser479=) rs574290806 0.00019
NM_024079.5(ALG8):c.154A>G (p.Ile52Val) rs138293432 0.00019
NM_024079.5(ALG8):c.980C>G (p.Thr327Arg) rs141068538 0.00019
NM_024105.4(ALG12):c.1152C>G (p.Pro384=) rs375721419 0.00019
NM_024105.4(ALG12):c.1239G>C (p.Arg413Ser) rs142027212 0.00019
NM_024592.5(SRD5A3):c.698-8C>T rs369712923 0.00019
NM_033087.4(ALG2):c.399C>G (p.Ile133Met) rs371772900 0.00019
NM_052859.4(RFT1):c.*3093C>G rs886058710 0.00019
NM_052859.4(RFT1):c.*880C>G rs557106378 0.00019
NM_052859.4(RFT1):c.1283G>A (p.Ser428Asn) rs201230044 0.00019
NM_178862.3(STT3B):c.141C>T (p.Gly47=) rs367626371 0.00019
NM_002633.3(PGM1):c.371A>G (p.Asn124Ser) rs367689770 0.00018
NM_052859.4(RFT1):c.1529G>A (p.Gly510Glu) rs142016662 0.00018
NM_000303.3(PMM2):c.*1195G>T rs186712555 0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_005216.4(DDOST):c.16T>G (p.Cys6Gly) rs149951380 0.00017
NM_005216.5(DDOST):c.999C>T (p.Gly333=) rs190780604 0.00017
NM_013339.4(ALG6):c.*1169G>A rs536772187 0.00017
NM_014908.4(DOLK):c.579G>A (p.Glu193=) rs28365522 0.00017
NM_024105.4(ALG12):c.1082C>T (p.Thr361Met) rs748537273 0.00017
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) rs376944136 0.00017
NM_024740.2(ALG9):c.*1832A>C rs772136205 0.00017
NM_002435.3(MPI):c.1125G>A (p.Gly375=) rs552854858 0.00016
NM_002633.3(PGM1):c.1137C>T (p.Phe379=) rs367648776 0.00016
NM_002633.3(PGM1):c.1515C>T (p.Ser505=) rs61760978 0.00016
NM_002633.3(PGM1):c.1600-3C>T rs375450688 0.00016
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501 0.00016
NM_003859.3(DPM1):c.779C>T (p.Thr260Ile) rs146262101 0.00016
NM_003863.3(DPM2):c.-141G>A rs886063485 0.00016
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met) rs138962748 0.00016
NM_019109.5(ALG1):c.361A>C (p.Arg121=) rs149695050 0.00016
NM_019109.5(ALG1):c.477T>C (p.Tyr159=) rs145487895 0.00016
NM_024105.4(ALG12):c.1057G>A (p.Val353Met) rs374327138 0.00016
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_052859.4(RFT1):c.*1124T>A rs554646046 0.00016
NM_052859.4(RFT1):c.149+16C>T rs201161797 0.00016
NM_153741.2(DPM3):c.249C>A (p.Ala83=) rs193215070 0.00016
NM_178862.3(STT3B):c.657C>T (p.Ser219=) rs145698887 0.00016
NM_000303.3(PMM2):c.*10G>A rs200930493 0.00015
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr) rs781459134 0.00015
NM_002435.3(MPI):c.1139G>A (p.Ser380Asn) rs141660799 0.00015
NM_003863.3(DPM2):c.*632T>C rs371958283 0.00015
NM_003863.4(DPM2):c.154G>A (p.Ala52Thr) rs147263320 0.00015
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr) rs143641133 0.00015
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr) rs138266806 0.00015
NM_024592.5(SRD5A3):c.108G>T (p.Pro36=) rs200253126 0.00015
NM_024740.2(ALG9):c.1356A>G (p.Glu452=) rs200460892 0.00015
NM_052859.4(RFT1):c.*3286C>T rs766245126 0.00015
NM_052859.4(RFT1):c.1101C>T (p.Ser367=) rs139445704 0.00015
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu) rs199754211 0.00014
NM_001099922.3(ALG13):c.2070T>C (p.Asp690=) rs371239344 0.00014
NM_001099922.3(ALG13):c.2802T>A (p.Pro934=) rs865879266 0.00014
NM_001382.4(DPAGT1):c.728+9G>A rs369353136 0.00014
NM_002435.3(MPI):c.977C>G (p.Pro326Arg) rs199956743 0.00014
NM_002633.3(PGM1):c.529T>G (p.Leu177Val) rs112293909 0.00014
NM_003859.3(DPM1):c.759A>G (p.Leu253=) rs769964944 0.00014
NM_005216.5(DDOST):c.1221G>A (p.Ser407=) rs142441124 0.00014
NM_005216.5(DDOST):c.752T>C (p.Phe251Ser) rs199782279 0.00014
NM_005787.6(ALG3):c.606-8C>T rs368253820 0.00014
NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val) rs763991801 0.00014
NM_014908.4(DOLK):c.1438A>G (p.Ile480Val) rs144209926 0.00014
NM_019109.5(ALG1):c.629+20C>T rs371416008 0.00014
NM_024592.5(SRD5A3):c.*1518C>T rs780042332 0.00014
NM_024592.5(SRD5A3):c.*2983T>C rs924086302 0.00014
NM_024592.5(SRD5A3):c.-27G>T rs778218591 0.00014
NM_033087.4(ALG2):c.217G>C (p.Asp73His) rs375634924 0.00014
NM_052859.4(RFT1):c.1049A>G (p.Tyr350Cys) rs148627975 0.00014
NM_052859.4(RFT1):c.136G>A (p.Val46Ile) rs141174358 0.00014
NM_178862.3(STT3B):c.895A>G (p.Ile299Val) rs141238380 0.00014
NM_001099922.3(ALG13):c.1313C>A (p.Thr438Lys) rs367783946 0.00013
NM_001099922.3(ALG13):c.1747A>G (p.Ile583Val) rs377397506 0.00013
NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp) rs372209528 0.00013
NM_002633.3(PGM1):c.1028G>A (p.Arg343Gln) rs370265239 0.00013
NM_003859.3(DPM1):c.564-20A>G rs201186989 0.00013
NM_003859.3(DPM1):c.679-8T>A rs764913742 0.00013
NM_004341.5(CAD):c.1118G>A (p.Arg373Gln) rs779009526 0.00013
NM_012463.4(ATP6V0A2):c.117+19A>T rs746099453 0.00013
NM_012463.4(ATP6V0A2):c.118-7_118-3del rs777322469 0.00013
NM_013339.4(ALG6):c.903-13A>G rs190744579 0.00013
NM_014908.4(DOLK):c.-194G>T rs886063516 0.00013
NM_014908.4(DOLK):c.633C>T (p.Arg211=) rs147647278 0.00013
NM_014908.4(DOLK):c.975C>T (p.Ser325=) rs149462670 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_019109.5(ALG1):c.1281T>C (p.Phe427=) rs538385814 0.00013
NM_024079.5(ALG8):c.459C>T (p.Phe153=) rs144501219 0.00013
NM_024079.5(ALG8):c.898+8A>G rs190448293 0.00013
NM_024105.4(ALG12):c.*33C>T rs531771418 0.00013
NM_024105.4(ALG12):c.240C>T (p.Pro80=) rs773878720 0.00013
NM_024592.5(SRD5A3):c.365-15C>T rs369112025 0.00013
NM_024740.2(ALG9):c.-30G>A rs886047685 0.00013
NM_024740.2(ALG9):c.1314A>G (p.Ala438=) rs201611208 0.00013
NM_052859.4(RFT1):c.*242T>C rs565490076 0.00013
NM_052859.4(RFT1):c.104T>C (p.Ile35Thr) rs146354877 0.00013
NM_138459.5(NUS1):c.805C>T (p.His269Tyr) rs1038995750 0.00013
NM_178862.3(STT3B):c.758G>C (p.Cys253Ser) rs1008042824 0.00013
NM_000303.3(PMM2):c.149A>T (p.Glu50Val) rs182336960 0.00012
NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser) rs201560109 0.00012
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val) rs138712375 0.00012
NM_001099922.3(ALG13):c.2685C>T (p.His895=) rs374572450 0.00012
NM_001099922.3(ALG13):c.417T>C (p.Ile139=) rs748326545 0.00012
NM_001382.4(DPAGT1):c.496+3A>G rs565154071 0.00012
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) rs754727464 0.00012
NM_013339.4(ALG6):c.1361C>T (p.Thr454Met) rs138890428 0.00012
NM_014908.4(DOLK):c.1446G>A (p.Ala482=) rs201027607 0.00012
NM_019109.5(ALG1):c.812C>T (p.Thr271Met) rs368722637 0.00012
NM_024105.4(ALG12):c.1428A>G (p.Thr476=) rs191342997 0.00012
NM_024740.2(ALG9):c.62C>T (p.Ala21Val) rs1298391733 0.00012
NM_052859.4(RFT1):c.1332G>A (p.Thr444=) rs139487607 0.00012
NM_138459.5(NUS1):c.844C>T (p.Arg282Cys) rs150953098 0.00012
NM_001099922.3(ALG13):c.2787A>G (p.Pro929=) rs772431643 0.00011
NM_002435.3(MPI):c.378G>A (p.Pro126=) rs752948071 0.00011
NM_002633.3(PGM1):c.1028+11C>A rs541069522 0.00011
NM_005216.5(DDOST):c.733G>A (p.Asp245Asn) rs780103981 0.00011
NM_012463.4(ATP6V0A2):c.1015C>T (p.Arg339Cys) rs200463200 0.00011
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=) rs201694504 0.00011
NM_013339.4(ALG6):c.1032T>C (p.His344=) rs146265933 0.00011
NM_013339.4(ALG6):c.370T>G (p.Tyr124Asp) rs562509297 0.00011
NM_019109.5(ALG1):c.1066C>G (p.Leu356Val) rs569498428 0.00011
NM_019109.5(ALG1):c.284C>T (p.Ala95Val) rs368284764 0.00011
NM_019109.5(ALG1):c.384T>C (p.Phe128=) rs140626461 0.00011
NM_019109.5(ALG1):c.802G>A (p.Gly268Arg) rs148611855 0.00011
NM_021645.6(UTP14C):c.-67A>T rs771744248 0.00011
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr) rs149692072 0.00011
NM_024105.4(ALG12):c.189C>T (p.Val63=) rs190345740 0.00011
NM_024105.4(ALG12):c.665-15A>G rs373506247 0.00011
NM_024592.5(SRD5A3):c.*261A>G rs576643627 0.00011
NM_024592.5(SRD5A3):c.*92G>A rs774927041 0.00011
NM_024592.5(SRD5A3):c.633C>G (p.Ile211Met) rs142711275 0.00011
NM_052859.4(RFT1):c.1102+15T>A rs779365531 0.00011
NM_052859.4(RFT1):c.1401A>G (p.Leu467=) rs138028490 0.00011
NM_052859.4(RFT1):c.579G>T (p.Leu193=) rs141793370 0.00011
NM_052859.4(RFT1):c.978T>C (p.Ala326=) rs372101755 0.00011
NM_138459.5(NUS1):c.318C>T (p.Thr106=) rs573584810 0.00011
NM_138459.5(NUS1):c.732C>T (p.Phe244=) rs142549647 0.00011
NM_000303.3(PMM2):c.*1136T>C rs574947575 0.00010
NM_000303.3(PMM2):c.*1348A>G rs188346349 0.00010
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448 0.00010
NM_000303.3(PMM2):c.66+5G>A rs375808631 0.00010
NM_001004127.3(ALG11):c.874T>C (p.Leu292=) rs533408732 0.00010
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg) rs766772102 0.00010
NM_001099922.3(ALG13):c.2309G>A (p.Gly770Glu) rs751478782 0.00010
NM_001099922.3(ALG13):c.255C>T (p.Ser85=) rs771286138 0.00010
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser) rs372841179 0.00010
NM_001099922.3(ALG13):c.79C>G (p.Gln27Glu) rs1404395085 0.00010
NM_001382.4(DPAGT1):c.-46C>T rs186992584 0.00010
NM_002435.3(MPI):c.662C>G (p.Ser221Cys) rs760911969 0.00010
NM_002435.3(MPI):c.748G>A (p.Gly250Ser) rs748090636 0.00010
NM_002633.3(PGM1):c.1101C>T (p.Asp367=) rs375432694 0.00010
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_002633.3(PGM1):c.294T>A (p.Ala98=) rs777459281 0.00010
NM_002633.3(PGM1):c.963G>A (p.Pro321=) rs373693932 0.00010
NM_005787.6(ALG3):c.1176C>T (p.Ile392=) rs377091766 0.00010
NM_012463.4(ATP6V0A2):c.1935+8A>G rs377650732 0.00010
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) rs752306671 0.00010
NM_013339.4(ALG6):c.1442A>G (p.Asn481Ser) rs139521934 0.00010
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339 0.00010
NM_014908.4(DOLK):c.379G>A (p.Val127Met) rs752310792 0.00010
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe) rs371529625 0.00010
NM_019109.4(ALG1):c.36T>C (p.Cys12=) rs369180139 0.00010
NM_019109.5(ALG1):c.540-12C>G rs200506548 0.00010
NM_019109.5(ALG1):c.863-15A>G rs371947976 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_024105.4(ALG12):c.1158G>C (p.Gln386His) rs372390738 0.00010
NM_024105.4(ALG12):c.132C>T (p.Asp44=) rs140846449 0.00010
NM_024105.4(ALG12):c.969G>A (p.Thr323=) rs751353681 0.00010
NM_024740.2(ALG9):c.*906C>A rs147670080 0.00010
NM_024740.2(ALG9):c.-58A>G rs782440068 0.00010
NM_024740.2(ALG9):c.789+11T>G rs371939356 0.00010
NM_033087.4(ALG2):c.232G>C (p.Gly78Arg) rs1054683823 0.00010
NM_033087.4(ALG2):c.813C>T (p.Asp271=) rs551873509 0.00010
NM_033087.4(ALG2):c.948G>A (p.Thr316=) rs375746453 0.00010
NM_052859.4(RFT1):c.*1901G>A rs752158709 0.00010
NM_052859.4(RFT1):c.110G>A (p.Arg37His) rs139153173 0.00010
NM_052859.4(RFT1):c.827-14T>C rs571722733 0.00010
NM_052859.4(RFT1):c.884C>T (p.Pro295Leu) rs770676975 0.00010
NM_001099922.3(ALG13):c.1089T>C (p.Ala363=) rs760208274 0.00009
NM_001099922.3(ALG13):c.1277A>G (p.Asn426Ser) rs1208820400 0.00009
NM_001099922.3(ALG13):c.1741A>G (p.Met581Val) rs373053138 0.00009
NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser) rs200516126 0.00009
NM_001099922.3(ALG13):c.2437A>G (p.Thr813Ala) rs746099604 0.00009
NM_001099922.3(ALG13):c.544T>A (p.Cys182Ser) rs778876158 0.00009
NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg) rs1016844949 0.00009
NM_002435.3(MPI):c.167G>A (p.Arg56Gln) rs200452019 0.00009
NM_002435.3(MPI):c.818A>G (p.Asn273Ser) rs150525282 0.00009
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys) rs150286818 0.00009
NM_005216.5(DDOST):c.265+6G>C rs372328091 0.00009
NM_005216.5(DDOST):c.645+9T>C rs374229790 0.00009
NM_005787.6(ALG3):c.777C>T (p.Ser259=) rs142901178 0.00009
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu) rs201271558 0.00009
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) rs182439983 0.00009
NM_012463.4(ATP6V0A2):c.1665C>T (p.Ser555=) rs373155729 0.00009
NM_012463.4(ATP6V0A2):c.197-4A>G rs541441279 0.00009
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val) rs758214692 0.00009
NM_014908.4(DOLK):c.192A>G (p.Leu64=) rs563156233 0.00009
NM_019109.5(ALG1):c.815G>A (p.Arg272His) rs560302928 0.00009
NM_024079.5(ALG8):c.1178+7A>G rs766278533 0.00009
NM_024105.4(ALG12):c.1216C>G (p.Leu406Val) rs772459313 0.00009
NM_024105.4(ALG12):c.1360G>A (p.Val454Ile) rs777096831 0.00009
NM_024105.4(ALG12):c.243G>A (p.Ala81=) rs564172046 0.00009
NM_024105.4(ALG12):c.714G>A (p.Pro238=) rs760973218 0.00009
NM_024740.2(ALG9):c.*2233A>G rs886047674 0.00009
NM_024740.2(ALG9):c.*229A>G rs781789551 0.00009
NM_033087.4(ALG2):c.1038G>A (p.Ser346=) rs200138333 0.00009
NM_033087.4(ALG2):c.1226G>A (p.Arg409Gln) rs369231996 0.00009
NM_033087.4(ALG2):c.968G>T (p.Ser323Ile) rs373454393 0.00009
NM_052859.4(RFT1):c.*2161C>T rs180693200 0.00009
NM_052859.4(RFT1):c.*2453T>C rs755371328 0.00009
NM_052859.4(RFT1):c.*649G>A rs915542340 0.00009
NM_052859.4(RFT1):c.165C>T (p.Tyr55=) rs149529625 0.00009
NM_052859.4(RFT1):c.267-3T>C rs778876601 0.00009
NM_052859.4(RFT1):c.924G>A (p.Leu308=) rs140603849 0.00009
NM_138459.5(NUS1):c.629T>C (p.Leu210Ser) rs1052237 0.00009
NM_000303.3(PMM2):c.513G>A (p.Thr171=) rs371399381 0.00008
NM_001099922.3(ALG13):c.1841G>C (p.Arg614Thr) rs752779777 0.00008
NM_001099922.3(ALG13):c.2933-15G>T rs372767806 0.00008
NM_001099922.3(ALG13):c.384-5C>T rs763318921 0.00008
NM_001099922.3(ALG13):c.621A>T (p.Gly207=) rs371428241 0.00008
NM_001099922.3(ALG13):c.958C>G (p.Pro320Ala) rs750856311 0.00008
NM_001099922.3(ALG13):c.975T>G (p.Thr325=) rs767735916 0.00008
NM_001382.4(DPAGT1):c.*390A>G rs970354016 0.00008
NM_001382.4(DPAGT1):c.717C>T (p.Leu239=) rs377263230 0.00008
NM_002435.3(MPI):c.-5C>T rs145533697 0.00008
NM_003859.3(DPM1):c.*12T>C rs758875594 0.00008
NM_003859.3(DPM1):c.20G>A (p.Ser7Asn) rs776145598 0.00008
NM_003863.4(DPM2):c.-5G>A rs371551833 0.00008
NM_005787.5(ALG3):c.-26G>C rs747569137 0.00008
NM_005787.6(ALG3):c.477C>T (p.Cys159=) rs201087932 0.00008
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659 0.00008
NM_012463.4(ATP6V0A2):c.2308C>T (p.Leu770=) rs149439834 0.00008
NM_012463.4(ATP6V0A2):c.2367A>G (p.Leu789=) rs142041624 0.00008
NM_013339.4(ALG6):c.*1004C>A rs886046477 0.00008
NM_013339.4(ALG6):c.1300T>A (p.Phe434Ile) rs200661626 0.00008
NM_013339.4(ALG6):c.420T>C (p.Thr140=) rs150097046 0.00008
NM_013339.4(ALG6):c.915G>A (p.Thr305=) rs112769742 0.00008
NM_013339.4(ALG6):c.96G>A (p.Pro32=) rs149990175 0.00008
NM_019109.5(ALG1):c.1263+16A>G rs373065015 0.00008
NM_019109.5(ALG1):c.150G>A (p.Gln50=) rs144380244 0.00008
NM_019109.5(ALG1):c.391-11A>G rs767861344 0.00008
NM_019109.5(ALG1):c.457G>A (p.Val153Ile) rs750216032 0.00008
NM_024105.4(ALG12):c.768+10A>C rs779065174 0.00008
NM_024105.4(ALG12):c.777G>A (p.Pro259=) rs138060012 0.00008
NM_024740.2(ALG9):c.*2907A>T rs782731018 0.00008
NM_024740.2(ALG9):c.129C>T (p.Thr43=) rs1311317470 0.00008
NM_024740.2(ALG9):c.132-18T>G rs528601164 0.00008
NM_033087.4(ALG2):c.389G>A (p.Arg130Gln) rs143625172 0.00008
NM_052859.4(RFT1):c.1388C>T (p.Ala463Val) rs763302334 0.00008
NM_052859.4(RFT1):c.150-7T>C rs189282239 0.00008
NM_052859.4(RFT1):c.1599G>A (p.Val533=) rs372235619 0.00008
NM_052859.4(RFT1):c.533G>A (p.Gly178Glu) rs373067263 0.00008
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_001099922.3(ALG13):c.1813G>A (p.Gly605Ser) rs773666398 0.00007
NM_001099922.3(ALG13):c.288C>T (p.Leu96=) rs369867857 0.00007
NM_001099922.3(ALG13):c.756T>G (p.Phe252Leu) rs915629293 0.00007
NM_001382.4(DPAGT1):c.484C>A (p.His162Asn) rs542516384 0.00007
NM_002435.3(MPI):c.849C>T (p.Cys283=) rs377419930 0.00007
NM_003859.3(DPM1):c.*159A>G rs775290919 0.00007
NM_003859.3(DPM1):c.261T>A (p.Ile87=) rs774440510 0.00007
NM_003859.3(DPM1):c.684A>G (p.Pro228=) rs369538517 0.00007
NM_003859.3(DPM1):c.685A>G (p.Ile229Val) rs559946698 0.00007
NM_004870.4(MPDU1):c.450C>T (p.Pro150=) rs145983820 0.00007
NM_004870.4(MPDU1):c.636G>C (p.Leu212=) rs148586387 0.00007
NM_005787.6(ALG3):c.1215C>T (p.Ser405=) rs116621135 0.00007
NM_005787.6(ALG3):c.1243G>A (p.Val415Ile) rs375976807 0.00007
NM_005787.6(ALG3):c.248A>G (p.Asn83Ser) rs199565095 0.00007
NM_012463.4(ATP6V0A2):c.1111C>T (p.Arg371Cys) rs778381327 0.00007
NM_013339.4(ALG6):c.*670G>A rs367589530 0.00007
NM_013339.4(ALG6):c.1465T>G (p.Phe489Val) rs145152115 0.00007
NM_013339.4(ALG6):c.257+15C>A rs761827385 0.00007
NM_013339.4(ALG6):c.527G>T (p.Trp176Leu) rs773699560 0.00007
NM_014908.4(DOLK):c.509T>G (p.Val170Gly) rs745609223 0.00007
NM_019109.5(ALG1):c.1179C>G (p.Asn393Lys) rs537333921 0.00007
NM_019109.5(ALG1):c.37C>G (p.Leu13Val) rs758104063 0.00007
NM_019109.5(ALG1):c.965A>G (p.Lys322Arg) rs145851409 0.00007
NM_021645.6(UTP14C):c.470T>G (p.Val157Gly) rs763915286 0.00007
NM_024079.5(ALG8):c.1349+5T>C rs886048685 0.00007
NM_024105.4(ALG12):c.1192G>A (p.Ala398Thr) rs773892105 0.00007
NM_024105.4(ALG12):c.295+1G>A rs376314741 0.00007
NM_024105.4(ALG12):c.385A>G (p.Met129Val) rs200068410 0.00007
NM_024592.5(SRD5A3):c.*2111G>T rs886059477 0.00007
NM_024592.5(SRD5A3):c.448G>A (p.Val150Ile) rs151267741 0.00007
NM_033087.4(ALG2):c.1054_1055insTGA (p.Ser352delinsLeuThr) rs763662395 0.00007
NM_033087.4(ALG2):c.348+20G>C rs768131229 0.00007
NM_052859.4(RFT1):c.*2991C>T rs891624907 0.00007
NM_052859.4(RFT1):c.1017C>T (p.Ala339=) rs142123445 0.00007
NM_052859.4(RFT1):c.1209-6C>T rs543699868 0.00007
NM_052859.4(RFT1):c.964G>A (p.Val322Ile) rs143888206 0.00007
NM_138459.5(NUS1):c.271G>A (p.Gly91Ser) rs779673665 0.00007
NM_138459.5(NUS1):c.791+17G>A rs185389978 0.00007
NM_178862.3(STT3B):c.2175T>C (p.Phe725=) rs146718873 0.00007
NM_000303.3(PMM2):c.*1063C>T rs539046271 0.00006
NM_000303.3(PMM2):c.*1086G>A rs567957339 0.00006
NM_000303.3(PMM2):c.*246C>T rs756637944 0.00006
NM_000303.3(PMM2):c.*476C>T rs886052463 0.00006
NM_000303.3(PMM2):c.256-13T>G rs62031145 0.00006
NM_000303.3(PMM2):c.339G>A (p.Pro113=) rs149849259 0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000303.3(PMM2):c.426T>G (p.Ile142Met) rs781610241 0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
NM_000303.3(PMM2):c.435C>T (p.Tyr145=) rs550231531 0.00006
NM_000303.3(PMM2):c.436G>A (p.Glu146Lys) rs142420230 0.00006
NM_000303.3(PMM2):c.487A>C (p.Lys163Gln) rs138383066 0.00006
NM_000303.3(PMM2):c.640-12G>A rs375325546 0.00006
NM_001004127.3(ALG11):c.1037G>A (p.Arg346His) rs144883776 0.00006
NM_001004127.3(ALG11):c.44G>C (p.Arg15Thr) rs139798579 0.00006
NM_001099922.3(ALG13):c.2369-19T>C rs376719251 0.00006
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp) rs778396216 0.00006
NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu) rs200293248 0.00006
NM_001099922.3(ALG13):c.620G>A (p.Gly207Glu) rs775381422 0.00006
NM_001382.4(DPAGT1):c.351A>G (p.Val117=) rs146610900 0.00006
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe) rs751590922 0.00006
NM_002435.3(MPI):c.*289A>G rs1405523963 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_002633.3(PGM1):c.*72A>G rs761043925 0.00006
NM_002633.3(PGM1):c.1248T>C (p.His416=) rs754762400 0.00006
NM_002633.3(PGM1):c.442T>G (p.Phe148Val) rs755467080 0.00006
NM_002633.3(PGM1):c.975G>T (p.Gln325His) rs574355735 0.00006
NM_003859.3(DPM1):c.261+8A>G rs369077586 0.00006
NM_003859.3(DPM1):c.286T>C (p.Leu96=) rs780244460 0.00006
NM_003859.3(DPM1):c.61A>G (p.Ser21Gly) rs148674319 0.00006
NM_003863.4(DPM2):c.102C>T (p.Ile34=) rs777078287 0.00006
NM_003863.4(DPM2):c.3+14C>A rs375782774 0.00006
NM_004870.4(MPDU1):c.12G>A (p.Glu4=) rs146631664 0.00006
NM_005216.5(DDOST):c.1314C>T (p.Ser438=) rs764406890 0.00006
NM_005216.5(DDOST):c.236A>G (p.Asn79Ser) rs773982629 0.00006
NM_005216.5(DDOST):c.552-13C>T rs373356614 0.00006
NM_005216.5(DDOST):c.573C>A (p.Asn191Lys) rs1038330038 0.00006
NM_005216.5(DDOST):c.815A>G (p.Tyr272Cys) rs369105590 0.00006
NM_005787.6(ALG3):c.13C>G (p.Leu5Val) rs369888932 0.00006
NM_005787.6(ALG3):c.297-6T>C rs371534425 0.00006
NM_005787.6(ALG3):c.312C>T (p.Phe104=) rs767923381 0.00006
NM_005787.6(ALG3):c.578G>A (p.Arg193His) rs550144109 0.00006
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser) rs768141782 0.00006
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) rs199698721 0.00006
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His) rs758922111 0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) rs762614200 0.00006
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) rs181112338 0.00006
NM_013339.4(ALG6):c.-141A>G rs1054104046 0.00006
NM_013339.4(ALG6):c.1002A>G (p.Leu334=) rs377647534 0.00006
NM_013339.4(ALG6):c.1128-13T>A rs773823994 0.00006
NM_013339.4(ALG6):c.1314T>C (p.Ile438=) rs146939069 0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_013339.4(ALG6):c.36A>C (p.Leu12Phe) rs151277583 0.00006
NM_013339.4(ALG6):c.665G>A (p.Gly222Asp) rs532466353 0.00006
NM_013339.4(ALG6):c.816+10A>T rs529032571 0.00006
NM_013339.4(ALG6):c.950T>C (p.Ile317Thr) rs376087919 0.00006
NM_014908.4(DOLK):c.-255C>T rs886063517 0.00006
NM_014908.4(DOLK):c.-269G>T rs371065378 0.00006
NM_014908.4(DOLK):c.1139G>A (p.Arg380His) rs553112177 0.00006
NM_014908.4(DOLK):c.1197A>G (p.Arg399=) rs767133437 0.00006
NM_014908.4(DOLK):c.1557C>T (p.Tyr519=) rs367609050 0.00006
NM_014908.4(DOLK):c.165C>A (p.Tyr55Ter) rs1366267146 0.00006
NM_014908.4(DOLK):c.210C>G (p.Val70=) rs750368652 0.00006
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly) rs779008975 0.00006
NM_014908.4(DOLK):c.344C>T (p.Ala115Val) rs146804211 0.00006
NM_014908.4(DOLK):c.52G>A (p.Gly18Arg) rs777998210 0.00006
NM_014908.4(DOLK):c.914C>G (p.Ser305Cys) rs766759178 0.00006
NM_019109.5(ALG1):c.186G>T (p.Ser62=) rs767351398 0.00006
NM_019109.5(ALG1):c.19G>A (p.Val7Ile) rs199891552 0.00006
NM_019109.5(ALG1):c.20T>G (p.Val7Gly) rs780711908 0.00006
NM_019109.5(ALG1):c.286+13C>G rs767857889 0.00006
NM_019109.5(ALG1):c.286+15A>C rs376062732 0.00006
NM_019109.5(ALG1):c.335T>C (p.Met112Thr) rs150943251 0.00006
NM_019109.5(ALG1):c.485C>T (p.Ser162Phe) rs755804171 0.00006
NM_019109.5(ALG1):c.728C>T (p.Pro243Leu) rs570334955 0.00006
NM_019109.5(ALG1):c.770G>A (p.Arg257Gln) rs763925138 0.00006
NM_019109.5(ALG1):c.962-6G>T rs769389896 0.00006
NM_019109.5(ALG1):c.993C>T (p.Arg331=) rs561385337 0.00006
NM_021645.6(UTP14C):c.172C>T (p.Arg58Trp) rs184583544 0.00006
NM_024079.5(ALG8):c.-7C>T rs542407081 0.00006
NM_024079.5(ALG8):c.899-15A>G rs760264923 0.00006
NM_024079.5(ALG8):c.984C>A (p.Val328=) rs757467776 0.00006
NM_024105.4(ALG12):c.1238+20C>T rs767126536 0.00006
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly) rs201717237 0.00006
NM_024105.4(ALG12):c.1346G>A (p.Arg449Gln) rs148062469 0.00006
NM_024105.4(ALG12):c.1457G>A (p.Arg486Gln) rs938305311 0.00006
NM_024105.4(ALG12):c.241G>A (p.Ala81Thr) rs770434145 0.00006
NM_024105.4(ALG12):c.403G>A (p.Ala135Thr) rs761571791 0.00006
NM_024105.4(ALG12):c.469+14G>A rs76905919 0.00006
NM_024105.4(ALG12):c.58G>A (p.Val20Ile) rs140468943 0.00006
NM_024105.4(ALG12):c.639C>T (p.Ala213=) rs140835842 0.00006
NM_024105.4(ALG12):c.822C>T (p.Cys274=) rs757984807 0.00006
NM_024592.5(SRD5A3):c.*707G>T rs886059474 0.00006
NM_024592.5(SRD5A3):c.123G>A (p.Pro41=) rs760463357 0.00006
NM_024740.2(ALG9):c.*305C>T rs782183793 0.00006
NM_024740.2(ALG9):c.*523T>C rs536072357 0.00006
NM_024740.2(ALG9):c.1533A>G (p.Glu511=) rs377345625 0.00006
NM_024740.2(ALG9):c.765G>A (p.Ser255=) rs372338362 0.00006
NM_024740.2(ALG9):c.790-4T>C rs534732271 0.00006
NM_033087.4(ALG2):c.185A>G (p.Glu62Gly) rs752153404 0.00006
NM_033087.4(ALG2):c.255C>G (p.Gly85=) rs562977386 0.00006
NM_033087.4(ALG2):c.346C>G (p.Gln116Glu) rs754476664 0.00006
NM_033087.4(ALG2):c.390G>A (p.Arg130=) rs375986920 0.00006
NM_033087.4(ALG2):c.443A>G (p.Asp148Gly) rs369670496 0.00006
NM_033087.4(ALG2):c.60C>T (p.Leu20=) rs200338773 0.00006
NM_033087.4(ALG2):c.92G>C (p.Arg31Pro) rs1279623882 0.00006
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe) rs147346291 0.00006
NM_033087.4(ALG2):c.981T>C (p.Phe327=) rs34382969 0.00006
NM_052859.4(RFT1):c.*2052A>G rs762188099 0.00006
NM_052859.4(RFT1):c.1117C>T (p.Arg373Cys) rs375524916 0.00006
NM_052859.4(RFT1):c.1270C>T (p.Arg424Cys) rs138803905 0.00006
NM_052859.4(RFT1):c.1447G>T (p.Ala483Ser) rs549199208 0.00006
NM_052859.4(RFT1):c.1458+18A>T rs373019694 0.00006
NM_138459.5(NUS1):c.144C>T (p.Val48=) rs767517042 0.00006
NM_138459.5(NUS1):c.246C>G (p.His82Gln) rs1023259853 0.00006
NM_138459.5(NUS1):c.691+11T>A rs201025128 0.00006
NM_138459.5(NUS1):c.699T>C (p.Asn233=) rs746621138 0.00006
NM_138459.5(NUS1):c.792-15G>A rs199793068 0.00006
NM_153741.2(DPM3):c.248C>T (p.Ala83Val) rs777586354 0.00006
NM_000303.3(PMM2):c.*205C>T rs556232441 0.00005
NM_000303.3(PMM2):c.*26C>T rs138528126 0.00005
NM_000303.3(PMM2):c.524-5G>A rs373584132 0.00005
NM_000303.3(PMM2):c.586G>A (p.Val196Met) rs547216044 0.00005
NM_000303.3(PMM2):c.738C>G (p.Ser246=) rs373888957 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_001099922.3(ALG13):c.1087+18A>G rs374773161 0.00005
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471 0.00005
NM_001099922.3(ALG13):c.1377C>G (p.Ala459=) rs368020541 0.00005
NM_001099922.3(ALG13):c.139G>A (p.Val47Ile) rs766512298 0.00005
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) rs199505558 0.00005
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly) rs374174400 0.00005
NM_001099922.3(ALG13):c.2385A>G (p.Glu795=) rs759719376 0.00005
NM_001099922.3(ALG13):c.2392T>C (p.Tyr798His) rs1195010293 0.00005
NM_001099922.3(ALG13):c.2396G>A (p.Arg799His) rs1441099792 0.00005
NM_001099922.3(ALG13):c.2529+6C>G rs1569520797 0.00005
NM_001099922.3(ALG13):c.2800C>T (p.Pro934Ser) rs766833930 0.00005
NM_001099922.3(ALG13):c.2805T>A (p.Pro935=) rs754346057 0.00005
NM_001099922.3(ALG13):c.2842G>A (p.Asp948Asn) rs750257151 0.00005
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=) rs773452673 0.00005
NM_001099922.3(ALG13):c.857A>G (p.Lys286Arg) rs765500818 0.00005
NM_001099922.3(ALG13):c.880C>G (p.Pro294Ala) rs753556936 0.00005
NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly) rs775191661 0.00005
NM_001099922.3(ALG13):c.978T>C (p.Tyr326=) rs375739139 0.00005
NM_001382.4(DPAGT1):c.644-10G>A rs192269738 0.00005
NM_002435.3(MPI):c.132G>A (p.Lys44=) rs778577329 0.00005
NM_002633.3(PGM1):c.1257G>A (p.Lys419=) rs371451091 0.00005
NM_003859.3(DPM1):c.456A>G (p.Gly152=) rs370598866 0.00005
NM_003863.4(DPM2):c.197-5C>T rs886063482 0.00005
NM_003863.4(DPM2):c.74C>G (p.Thr25Ser) rs1026866240 0.00005
NM_004341.5(CAD):c.4208G>A (p.Arg1403Gln) rs368332006 0.00005
NM_004870.4(MPDU1):c.411C>T (p.Tyr137=) rs142551371 0.00005
NM_005216.5(DDOST):c.207C>T (p.Leu69=) rs753702642 0.00005
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) rs119103236 0.00005
NM_005787.6(ALG3):c.778C>T (p.Arg260Cys) rs749229743 0.00005
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr) rs199801221 0.00005
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=) rs373419502 0.00005
NM_013339.4(ALG6):c.*1313T>C rs372013109 0.00005
NM_013339.4(ALG6):c.1159C>T (p.Leu387=) rs754054503 0.00005
NM_013339.4(ALG6):c.246A>T (p.Leu82=) rs112029121 0.00005
NM_013339.4(ALG6):c.555C>T (p.Cys185=) rs144065966 0.00005
NM_013339.4(ALG6):c.708T>C (p.Cys236=) rs374672230 0.00005
NM_014908.4(DOLK):c.1011A>G (p.Arg337=) rs375939944 0.00005
NM_014908.4(DOLK):c.1067G>A (p.Arg356Gln) rs199535796 0.00005
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln) rs201984428 0.00005
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile) rs754150966 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_014908.4(DOLK):c.1597C>T (p.Leu533=) rs199672668 0.00005
NM_014908.4(DOLK):c.33G>A (p.Gly11=) rs375483505 0.00005
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala) rs377064301 0.00005
NM_014908.4(DOLK):c.435C>T (p.Gly145=) rs781307203 0.00005
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu) rs147342916 0.00005
NM_019109.5(ALG1):c.1188-4G>A rs530972149 0.00005
NM_019109.5(ALG1):c.522C>T (p.Leu174=) rs776753482 0.00005
NM_019109.5(ALG1):c.739C>T (p.Arg247Cys) rs749270254 0.00005
NM_019109.5(ALG1):c.758C>A (p.Pro253Gln) rs770327947 0.00005
NM_019109.5(ALG1):c.764C>T (p.Thr255Met) rs143906919 0.00005
NM_019109.5(ALG1):c.774G>C (p.Ser258=) rs757068692 0.00005
NM_024079.5(ALG8):c.228T>C (p.Tyr76=) rs371862915 0.00005
NM_024105.4(ALG12):c.-76T>C rs546115000 0.00005
NM_024105.4(ALG12):c.1331A>G (p.Tyr444Cys) rs374858734 0.00005
NM_024105.4(ALG12):c.358C>T (p.Arg120Trp) rs772004305 0.00005
NM_024105.4(ALG12):c.402G>A (p.Thr134=) rs370059291 0.00005
NM_024105.4(ALG12):c.436C>T (p.Arg146Trp) rs567368110 0.00005
NM_024105.4(ALG12):c.469+4C>T rs555319649 0.00005
NM_024105.4(ALG12):c.534C>T (p.Phe178=) rs139916198 0.00005
NM_024105.4(ALG12):c.617T>A (p.Val206Glu) rs150664343 0.00005
NM_024740.2(ALG9):c.896-3C>T rs782063335 0.00005
NM_033087.4(ALG2):c.1200T>C (p.Pro400=) rs764916897 0.00005
NM_033087.4(ALG2):c.368T>C (p.Val123Ala) rs762560638 0.00005
NM_052859.4(RFT1):c.*2280T>A rs190988002 0.00005
NM_052859.4(RFT1):c.1590G>C (p.Gln530His) rs1701001105 0.00005
NM_052859.4(RFT1):c.280G>A (p.Val94Met) rs151030461 0.00005
NM_052859.4(RFT1):c.559-15T>G rs371166734 0.00005
NM_052859.4(RFT1):c.657C>T (p.Ser219=) rs149157065 0.00005
NM_052859.4(RFT1):c.849T>C (p.Asn283=) rs369926092 0.00005
NM_138459.5(NUS1):c.166C>T (p.Leu56Phe) rs896791770 0.00005
NM_178862.3(STT3B):c.1398A>G (p.Pro466=) rs143950703 0.00005
NM_000303.3(PMM2):c.*365G>T rs886052460 0.00004
NM_000303.3(PMM2):c.*588G>A rs886052464 0.00004
NM_000303.3(PMM2):c.-34C>T rs751782324 0.00004
NM_000303.3(PMM2):c.120A>G (p.Lys40=) rs975864088 0.00004
NM_000303.3(PMM2):c.135C>T (p.Gly45=) rs748980961 0.00004
NM_000303.3(PMM2):c.192C>T (p.Tyr64=) rs372537052 0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.384C>T (p.Asn128=) rs147068457 0.00004
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168 0.00004
NM_000303.3(PMM2):c.447+4C>T rs537238935 0.00004
NM_000303.3(PMM2):c.581G>A (p.Arg194Gln) rs371629121 0.00004
NM_000303.3(PMM2):c.639+10G>A rs200593954 0.00004
NM_000303.3(PMM2):c.640-15479C>T rs1258107584 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_001004127.3(ALG11):c.1029A>G (p.Gly343=) rs147711581 0.00004
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=) rs369694921 0.00004
NM_001004127.3(ALG11):c.21C>G (p.Ser7Arg) rs746897177 0.00004
NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser) rs765666509 0.00004
NM_001004127.3(ALG11):c.44+19G>A rs748893269 0.00004
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser) rs747478031 0.00004
NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly) rs184599884 0.00004
NM_001099922.3(ALG13):c.1435+20A>G rs368555602 0.00004
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727 0.00004
NM_001099922.3(ALG13):c.2266A>G (p.Thr756Ala) rs748648454 0.00004
NM_001099922.3(ALG13):c.246T>G (p.Gly82=) rs1934561313 0.00004
NM_001099922.3(ALG13):c.2616A>G (p.Gln872=) rs764400701 0.00004
NM_001099922.3(ALG13):c.2808T>A (p.Pro936=) rs1402009098 0.00004
NM_001099922.3(ALG13):c.2811T>A (p.Pro937=) rs1464628002 0.00004
NM_001099922.3(ALG13):c.3085G>A (p.Val1029Ile) rs368393741 0.00004
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) rs1064796719 0.00004
NM_001099922.3(ALG13):c.3132G>A (p.Ala1044=) rs376626719 0.00004
NM_001099922.3(ALG13):c.350A>T (p.His117Leu) rs754497897 0.00004
NM_001099922.3(ALG13):c.511A>G (p.Lys171Glu) rs750037026 0.00004
NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile) rs776720609 0.00004
NM_001382.4(DPAGT1):c.162-6C>T rs761454590 0.00004
NM_001382.4(DPAGT1):c.291C>G (p.Ala97=) rs756818317 0.00004
NM_001382.4(DPAGT1):c.33G>A (p.Leu11=) rs773853061 0.00004
NM_001382.4(DPAGT1):c.728+6T>C rs373170483 0.00004
NM_002435.3(MPI):c.*93C>T rs1336372205 0.00004
NM_002435.3(MPI):c.1053+15A>G rs564765063 0.00004
NM_002435.3(MPI):c.1053+3G>T rs753145834 0.00004
NM_002435.3(MPI):c.1175G>A (p.Arg392His) rs762164813 0.00004
NM_002435.3(MPI):c.1232C>T (p.Pro411Leu) rs147817691 0.00004
NM_002633.3(PGM1):c.1023G>A (p.Leu341=) rs750218135 0.00004
NM_002633.3(PGM1):c.1048A>G (p.Ile350Val) rs751121095 0.00004
NM_002633.3(PGM1):c.1160G>A (p.Arg387His) rs548040301 0.00004
NM_002633.3(PGM1):c.1336G>A (p.Glu446Lys) rs199918985 0.00004
NM_002633.3(PGM1):c.1355G>A (p.Arg452His) rs147763516 0.00004
NM_002633.3(PGM1):c.178G>C (p.Gly60Arg) rs1287963513 0.00004
NM_002633.3(PGM1):c.57G>A (p.Thr19=) rs764100819 0.00004
NM_002633.3(PGM1):c.650G>A (p.Arg217Gln) rs188291855 0.00004
NM_002633.3(PGM1):c.708C>G (p.Ile236Met) rs200237046 0.00004
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr) rs587777404 0.00004
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg) rs777164338 0.00004
NM_002633.3(PGM1):c.99C>T (p.Ala33=) rs373394538 0.00004
NM_003859.3(DPM1):c.11T>G (p.Leu4Trp) rs146935617 0.00004
NM_003859.3(DPM1):c.161+18C>T rs112688266 0.00004
NM_003859.3(DPM1):c.413G>A (p.Gly138Asp) rs373944766 0.00004
NM_003859.3(DPM1):c.46G>C (p.Glu16Gln) rs754001081 0.00004
NM_003859.3(DPM1):c.570C>T (p.Tyr190=) rs754109868 0.00004
NM_003859.3(DPM1):c.59G>T (p.Arg20Leu) rs376257244 0.00004
NM_003859.3(DPM1):c.678+9C>T rs749718528 0.00004
NM_003863.4(DPM2):c.39C>G (p.Leu13=) rs757467123 0.00004
NM_003863.4(DPM2):c.94-19G>A rs760505582 0.00004
NM_003863.4(DPM2):c.94-9C>T rs373340697 0.00004
NM_004870.4(MPDU1):c.149T>C (p.Ile50Thr) rs200909635 0.00004
NM_004870.4(MPDU1):c.2T>C (p.Met1Thr) rs104894588 0.00004
NM_004870.4(MPDU1):c.713A>G (p.Lys238Arg) rs775877177 0.00004
NM_005216.5(DDOST):c.1206G>A (p.Glu402=) rs1262965370 0.00004
NM_005216.5(DDOST):c.1236C>T (p.Tyr412=) rs376894317 0.00004
NM_005216.5(DDOST):c.154+19G>C rs200373074 0.00004
NM_005216.5(DDOST):c.468C>T (p.Ile156=) rs376070047 0.00004
NM_005216.5(DDOST):c.627G>A (p.Pro209=) rs772970010 0.00004
NM_005216.5(DDOST):c.710G>A (p.Arg237His) rs774094300 0.00004
NM_005216.5(DDOST):c.955G>A (p.Val319Met) rs921210147 0.00004
NM_005787.6(ALG3):c.549C>T (p.Phe183=) rs780507509 0.00004
NM_005787.6(ALG3):c.642C>T (p.Phe214=) rs545724911 0.00004
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser) rs771839087 0.00004
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=) rs775345155 0.00004
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) rs371908109 0.00004
NM_012463.4(ATP6V0A2):c.2033G>A (p.Arg678His) rs761913726 0.00004
NM_012463.4(ATP6V0A2):c.2165C>T (p.Ala722Val) rs766224435 0.00004
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser) rs941238473 0.00004
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) rs200933894 0.00004
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) rs752689489 0.00004
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) rs563333869 0.00004
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) rs142935490 0.00004
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426 0.00004
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) rs201247720 0.00004
NM_013339.4(ALG6):c.-120C>T rs1016079273 0.00004
NM_013339.4(ALG6):c.-128C>T rs188685870 0.00004
NM_013339.4(ALG6):c.1120A>G (p.Thr374Ala) rs368086400 0.00004
NM_013339.4(ALG6):c.1362G>A (p.Thr454=) rs767257355 0.00004
NM_013339.4(ALG6):c.156G>A (p.Pro52=) rs751004049 0.00004
NM_013339.4(ALG6):c.167+7T>C rs374146302 0.00004
NM_013339.4(ALG6):c.1A>G (p.Met1Val) rs562934427 0.00004
NM_013339.4(ALG6):c.258-16A>G rs1289325321 0.00004
NM_013339.4(ALG6):c.357T>G (p.Ala119=) rs776226631 0.00004
NM_013339.4(ALG6):c.618C>T (p.His206=) rs374336458 0.00004
NM_013339.4(ALG6):c.916T>G (p.Phe306Val) rs769417698 0.00004
NM_013339.4(ALG6):c.988-20C>T rs377453006 0.00004
NM_013339.4(ALG6):c.999G>A (p.Ala333=) rs375487839 0.00004
NM_014908.4(DOLK):c.-94G>T rs567989779 0.00004
NM_014908.4(DOLK):c.1069C>T (p.Pro357Ser) rs1267588037 0.00004
NM_014908.4(DOLK):c.114A>G (p.Val38=) rs142000757 0.00004
NM_014908.4(DOLK):c.1165C>T (p.Arg389Trp) rs758129067 0.00004
NM_014908.4(DOLK):c.1270A>G (p.Arg424Gly) rs778808864 0.00004
NM_014908.4(DOLK):c.1283A>C (p.Gln428Pro) rs189623590 0.00004
NM_014908.4(DOLK):c.1371C>T (p.Phe457=) rs772013831 0.00004
NM_014908.4(DOLK):c.1422G>A (p.Glu474=) rs894096556 0.00004
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr) rs774524497 0.00004
NM_014908.4(DOLK):c.177G>A (p.Lys59=) rs747110969 0.00004
NM_014908.4(DOLK):c.807T>C (p.Gly269=) rs769294980 0.00004
NM_014908.4(DOLK):c.839G>A (p.Arg280His) rs779503646 0.00004
NM_019109.5(ALG1):c.1048G>A (p.Ala350Thr) rs138275657 0.00004
NM_019109.5(ALG1):c.1077G>A (p.Ser359=) rs564052127 0.00004
NM_019109.5(ALG1):c.121G>A (p.Gly41Ser) rs1393282696 0.00004
NM_019109.5(ALG1):c.1234G>A (p.Asp412Asn) rs200353530 0.00004
NM_019109.5(ALG1):c.1331C>T (p.Ser444Leu) rs397839861 0.00004
NM_019109.5(ALG1):c.1353G>A (p.Glu451=) rs772562254 0.00004
NM_019109.5(ALG1):c.212C>T (p.Ser71Phe) rs200605408 0.00004
NM_019109.5(ALG1):c.221A>T (p.His74Leu) rs201337379 0.00004
NM_019109.5(ALG1):c.304C>T (p.Gln102Ter) rs780107088 0.00004
NM_019109.5(ALG1):c.309C>T (p.Tyr103=) rs199553558 0.00004
NM_019109.5(ALG1):c.539+3G>C rs1040920105 0.00004
NM_019109.5(ALG1):c.545A>C (p.Glu182Ala) rs1011307139 0.00004
NM_019109.5(ALG1):c.639C>T (p.Thr213=) rs753164786 0.00004
NM_019109.5(ALG1):c.654C>T (p.Pro218=) rs375422039 0.00004
NM_019109.5(ALG1):c.682G>T (p.Asp228Tyr) rs145158686 0.00004
NM_019109.5(ALG1):c.715A>C (p.Ser239Arg) rs1373315673 0.00004
NM_019109.5(ALG1):c.741-13T>C rs368398266 0.00004
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys) rs774593969 0.00004
NM_019109.5(ALG1):c.919C>G (p.Leu307Val) rs368735974 0.00004
NM_021645.6(UTP14C):c.277G>A (p.Val93Ile) rs545278962 0.00004
NM_021645.6(UTP14C):c.540A>C (p.Arg180Ser) rs201103979 0.00004
NM_024079.5(ALG8):c.1091G>A (p.Arg364Gln) rs766238263 0.00004
NM_024079.5(ALG8):c.337A>G (p.Met113Val) rs140499974 0.00004
NM_024079.5(ALG8):c.546+7A>T rs771817128 0.00004
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser) rs758154434 0.00004
NM_024105.4(ALG12):c.*209C>T rs757403591 0.00004
NM_024105.4(ALG12):c.-74C>T rs182520339 0.00004
NM_024105.4(ALG12):c.1028C>T (p.Ala343Val) rs374812633 0.00004
NM_024105.4(ALG12):c.1211G>A (p.Arg404Gln) rs553349150 0.00004
NM_024105.4(ALG12):c.163-5C>T rs368302798 0.00004
NM_024105.4(ALG12):c.165C>T (p.Tyr55=) rs563259198 0.00004
NM_024105.4(ALG12):c.479C>T (p.Ala160Val) rs762826904 0.00004
NM_024105.4(ALG12):c.809G>A (p.Arg270His) rs781707642 0.00004
NM_024105.4(ALG12):c.811G>A (p.Gly271Ser) rs751915470 0.00004
NM_024105.4(ALG12):c.910C>T (p.Leu304Phe) rs375631589 0.00004
NM_024105.4(ALG12):c.993-19G>A rs185216992 0.00004
NM_024592.5(SRD5A3):c.*2120T>G rs959439608 0.00004
NM_024592.5(SRD5A3):c.*2950T>C rs1363381757 0.00004
NM_024592.5(SRD5A3):c.436G>A (p.Glu146Lys) rs772795484 0.00004
NM_024592.5(SRD5A3):c.464A>G (p.Asn155Ser) rs770085775 0.00004
NM_024740.2(ALG9):c.*4141G>C rs541035545 0.00004
NM_024740.2(ALG9):c.*763T>C rs886047680 0.00004
NM_024740.2(ALG9):c.1038G>A (p.Pro346=) rs372262029 0.00004
NM_024740.2(ALG9):c.128C>T (p.Thr43Ile) rs1377024435 0.00004
NM_024740.2(ALG9):c.246T>C (p.Asp82=) rs782243361 0.00004
NM_024740.2(ALG9):c.405+8C>A rs559793984 0.00004
NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys) rs121908023 0.00004
NM_033087.4(ALG2):c.1116A>G (p.Ala372=) rs573570972 0.00004
NM_033087.4(ALG2):c.1156A>G (p.Met386Val) rs772649099 0.00004
NM_033087.4(ALG2):c.1228T>C (p.Tyr410His) rs376959842 0.00004
NM_033087.4(ALG2):c.176G>A (p.Cys59Tyr) rs757068626 0.00004
NM_033087.4(ALG2):c.19C>T (p.Arg7Trp) rs761793563 0.00004
NM_033087.4(ALG2):c.299A>G (p.Tyr100Cys) rs1372670324 0.00004
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys) rs1156439417 0.00004
NM_033087.4(ALG2):c.388C>T (p.Arg130Trp) rs780287266 0.00004
NM_033087.4(ALG2):c.502G>A (p.Gly168Ser) rs925393788 0.00004
NM_033087.4(ALG2):c.657A>C (p.Leu219=) rs201667181 0.00004
NM_033087.4(ALG2):c.687C>T (p.Leu229=) rs762613857 0.00004
NM_052859.4(RFT1):c.*2995C>T rs886058713 0.00004
NM_052859.4(RFT1):c.1018G>A (p.Gly340Ser) rs568474177 0.00004
NM_052859.4(RFT1):c.1208+15A>G rs1448297165 0.00004
NM_052859.4(RFT1):c.1209-16C>T rs567150690 0.00004
NM_052859.4(RFT1):c.1214A>G (p.Asn405Ser) rs111924005 0.00004
NM_052859.4(RFT1):c.1344C>T (p.Cys448=) rs369135875 0.00004
NM_052859.4(RFT1):c.1598T>C (p.Val533Ala) rs747610673 0.00004
NM_052859.4(RFT1):c.199C>T (p.Arg67Cys) rs118203913 0.00004
NM_052859.4(RFT1):c.345T>C (p.Val115=) rs761692538 0.00004
NM_052859.4(RFT1):c.387G>A (p.Ser129=) rs914696330 0.00004
NM_052859.4(RFT1):c.412C>A (p.Pro138Thr) rs1045604063 0.00004
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly) rs781066087 0.00004
NM_138459.5(NUS1):c.288G>A (p.Lys96=) rs566608977 0.00004
NM_138459.5(NUS1):c.822T>C (p.Tyr274=) rs759399174 0.00004
NM_138459.5(NUS1):c.870T>G (p.Arg290=) rs529109392 0.00004
NM_153741.2(DPM3):c.127G>A (p.Ala43Thr) rs778766264 0.00004
NM_178862.3(STT3B):c.314+9C>T rs549989552 0.00004
NM_000303.3(PMM2):c.*1297C>T rs183853029 0.00003
NM_000303.3(PMM2):c.*383C>T rs886052461 0.00003
NM_000303.3(PMM2):c.*674G>A rs886052465 0.00003
NM_000303.3(PMM2):c.*695C>T rs767981809 0.00003
NM_000303.3(PMM2):c.*81C>T rs886052458 0.00003
NM_000303.3(PMM2):c.*888A>G rs886052467 0.00003
NM_000303.3(PMM2):c.*959C>G rs886052469 0.00003
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971 0.00003
NM_000303.3(PMM2):c.24C>G (p.Leu8=) rs751757467 0.00003
NM_000303.3(PMM2):c.256-10C>T rs756647792 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000303.3(PMM2):c.573C>T (p.Tyr191=) rs201440361 0.00003
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367 0.00003
NM_000303.3(PMM2):c.640-9T>G rs370160676 0.00003
NM_000303.3(PMM2):c.699G>A (p.Ala233=) rs375881270 0.00003
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) rs142459706 0.00003
NM_001004127.3(ALG11):c.124A>G (p.Ile42Val) rs201067230 0.00003
NM_001099922.3(ALG13):c.1209C>T (p.Ser403=) rs773641755 0.00003
NM_001099922.3(ALG13):c.1737A>G (p.Ser579=) rs889996527 0.00003
NM_001099922.3(ALG13):c.1798A>G (p.Met600Val) rs189931917 0.00003
NM_001099922.3(ALG13):c.1812C>T (p.Tyr604=) rs768241839 0.00003
NM_001099922.3(ALG13):c.1958G>A (p.Arg653Gln) rs779911093 0.00003
NM_001099922.3(ALG13):c.2004C>T (p.His668=) rs1024835814 0.00003
NM_001099922.3(ALG13):c.2037A>G (p.Pro679=) rs764270660 0.00003
NM_001099922.3(ALG13):c.2401+9G>T rs1036320277 0.00003
NM_001099922.3(ALG13):c.2624G>C (p.Ser875Thr) rs757522953 0.00003
NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser) rs972892187 0.00003
NM_001099922.3(ALG13):c.2973+10A>G rs1027238133 0.00003
NM_001099922.3(ALG13):c.303C>T (p.Asn101=) rs763113044 0.00003
NM_001099922.3(ALG13):c.3174A>G (p.Ser1058=) rs369901028 0.00003
NM_001099922.3(ALG13):c.819A>G (p.Gln273=) rs774384951 0.00003
NM_001099922.3(ALG13):c.927T>A (p.Ile309=) rs1939944337 0.00003
NM_001382.4(DPAGT1):c.283-9C>T rs746355462 0.00003
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile) rs376039938 0.00003
NM_001382.4(DPAGT1):c.496+17C>T rs749725470 0.00003
NM_001382.4(DPAGT1):c.644-15T>A rs749199504 0.00003
NM_001382.4(DPAGT1):c.918-8C>T rs531346717 0.00003
NM_002435.3(MPI):c.*44T>G rs774547352 0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_002435.3(MPI):c.121G>A (p.Ala41Thr) rs779821212 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.305C>T (p.Ser102Leu) rs104894494 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_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906 0.00003
NM_002633.3(PGM1):c.1144+10A>G rs886046482 0.00003
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val) rs200065327 0.00003
NM_002633.3(PGM1):c.12C>A (p.Ile4=) rs775862619 0.00003
NM_002633.3(PGM1):c.138C>A (p.Thr46=) rs767357022 0.00003
NM_002633.3(PGM1):c.264C>T (p.Ile88=) rs200946909 0.00003
NM_002633.3(PGM1):c.318C>G (p.Ile106Met) rs781551165 0.00003
NM_002633.3(PGM1):c.64C>T (p.Leu22=) rs1395771160 0.00003
NM_003859.3(DPM1):c.*191A>G rs771510447 0.00003
NM_003859.3(DPM1):c.161+17C>T rs777976660 0.00003
NM_003859.3(DPM1):c.171C>T (p.Asn57=) rs755192460 0.00003
NM_003859.3(DPM1):c.1A>C (p.Met1Leu) rs139624629 0.00003
NM_003859.3(DPM1):c.275G>A (p.Arg92Gln) rs1324570980 0.00003
NM_003859.3(DPM1):c.57G>T (p.Val19=) rs1311416348 0.00003
NM_003859.3(DPM1):c.9C>G (p.Ser3=) rs150509150 0.00003
NM_003863.4(DPM2):c.146A>G (p.Tyr49Cys) rs779093563 0.00003
NM_004870.4(MPDU1):c.*255A>G rs878936939 0.00003
NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln) rs74526704 0.00003
NM_005216.5(DDOST):c.399C>T (p.Asp133=) rs199859745 0.00003
NM_005216.5(DDOST):c.777G>A (p.Ala259=) rs757033527 0.00003
NM_005787.5(ALG3):c.-31G>A rs758955754 0.00003
NM_005787.6(ALG3):c.*65C>T rs776636517 0.00003
NM_005787.6(ALG3):c.1272G>A (p.Pro424=) rs372724502 0.00003
NM_005787.6(ALG3):c.1280T>A (p.Phe427Tyr) rs770095687 0.00003
NM_005787.6(ALG3):c.296+7G>A rs375026036 0.00003
NM_005787.6(ALG3):c.444+1G>T rs748878963 0.00003
NM_005787.6(ALG3):c.51A>G (p.Ala17=) rs763727038 0.00003
NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=) rs917452697 0.00003
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) rs781305219 0.00003
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) rs147411055 0.00003
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) rs372416067 0.00003
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=) rs759980365 0.00003
NM_012463.4(ATP6V0A2):c.1515-12T>G rs201512900 0.00003
NM_012463.4(ATP6V0A2):c.1971A>G (p.Ala657=) rs149123235 0.00003
NM_012463.4(ATP6V0A2):c.2166G>A (p.Ala722=) rs753589480 0.00003
NM_012463.4(ATP6V0A2):c.234C>T (p.Pro78=) rs375372808 0.00003
NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn) rs774594773 0.00003
NM_012463.4(ATP6V0A2):c.2556C>T (p.Asp852=) rs762290613 0.00003
NM_012463.4(ATP6V0A2):c.263C>T (p.Ala88Val) rs199633614 0.00003
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) rs747354658 0.00003
NM_012463.4(ATP6V0A2):c.521+14C>T rs747194853 0.00003
NM_012463.4(ATP6V0A2):c.621G>A (p.Leu207=) rs374338507 0.00003
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys) rs759593402 0.00003
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg) rs774118423 0.00003
NM_012463.4(ATP6V0A2):c.868A>G (p.Lys290Glu) rs772170459 0.00003
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 0.00003
NM_013339.4(ALG6):c.*1137G>A rs886046478 0.00003
NM_013339.4(ALG6):c.1059-9C>T rs375216174 0.00003
NM_013339.4(ALG6):c.1249del (p.Gln417fs) rs771069984 0.00003
NM_013339.4(ALG6):c.1308C>T (p.Ser436=) rs1271255207 0.00003
NM_013339.4(ALG6):c.430-3C>T rs549094888 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_013339.4(ALG6):c.669C>T (p.Leu223=) rs377089305 0.00003
NM_013339.4(ALG6):c.881G>A (p.Arg294His) rs772248256 0.00003
NM_013339.4(ALG6):c.902+1G>A rs1036516188 0.00003
NM_013339.4(ALG6):c.942A>G (p.Ile314Met) rs774489558 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_014908.4(DOLK):c.*20G>A rs368635795 0.00003
NM_014908.4(DOLK):c.1000A>T (p.Thr334Ser) rs762835635 0.00003
NM_014908.4(DOLK):c.1005C>T (p.Ile335=) rs370084249 0.00003
NM_014908.4(DOLK):c.1086C>T (p.Ala362=) rs751762161 0.00003
NM_014908.4(DOLK):c.1130G>A (p.Arg377His) rs374317240 0.00003
NM_014908.4(DOLK):c.1221A>G (p.Thr407=) rs973710719 0.00003
NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro) rs145125254 0.00003
NM_014908.4(DOLK):c.1290T>G (p.Gly430=) rs755691113 0.00003
NM_014908.4(DOLK):c.1333C>A (p.Leu445Met) rs866088033 0.00003
NM_014908.4(DOLK):c.1527C>T (p.Ser509=) rs746460508 0.00003
NM_014908.4(DOLK):c.288G>C (p.Lys96Asn) rs771259120 0.00003
NM_014908.4(DOLK):c.380T>C (p.Val127Ala) rs201629680 0.00003
NM_014908.4(DOLK):c.412A>G (p.Thr138Ala) rs933514904 0.00003
NM_014908.4(DOLK):c.819C>T (p.Pro273=) rs745508730 0.00003
NM_014908.4(DOLK):c.924C>T (p.Ala308=) rs531714647 0.00003
NM_015354.3(NUP188):c.-6G>A rs201511915 0.00003
NM_019109.4(ALG1):c.208+12A>G rs777062447 0.00003
NM_019109.5(ALG1):c.1050C>T (p.Ala350=) rs777066439 0.00003
NM_019109.5(ALG1):c.1073-20C>T rs779627691 0.00003
NM_019109.5(ALG1):c.1263+18C>T rs570783073 0.00003
NM_019109.5(ALG1):c.1263+20C>T rs1338515291 0.00003
NM_019109.5(ALG1):c.1275A>C (p.Ser425=) rs746944961 0.00003
NM_019109.5(ALG1):c.286+10C>T rs371480769 0.00003
NM_019109.5(ALG1):c.29C>T (p.Ala10Val) rs767455250 0.00003
NM_019109.5(ALG1):c.539+15A>G rs777450873 0.00003
NM_019109.5(ALG1):c.560G>A (p.Arg187His) rs377600706 0.00003
NM_019109.5(ALG1):c.608T>C (p.Leu203Pro) rs777949225 0.00003
NM_019109.5(ALG1):c.629+11C>T rs776701190 0.00003
NM_019109.5(ALG1):c.648C>T (p.Asp216=) rs141455029 0.00003
NM_019109.5(ALG1):c.726T>C (p.Ser242=) rs780479533 0.00003
NM_019109.5(ALG1):c.821G>A (p.Arg274His) rs529013891 0.00003
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) rs151173406 0.00003
NM_019109.5(ALG1):c.863A>G (p.Glu288Gly) rs776908571 0.00003
NM_019109.5(ALG1):c.880A>C (p.Ile294Leu) rs767003110 0.00003
NM_019109.5(ALG1):c.933C>A (p.Asn311Lys) rs776299417 0.00003
NM_019109.5(ALG1):c.961+19G>A rs768688738 0.00003
NM_021645.6(UTP14C):c.192T>C (p.Ser64=) rs137988059 0.00003
NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro) rs558379335 0.00003
NM_024079.5(ALG8):c.369-15A>G rs374645837 0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_024079.5(ALG8):c.588A>C (p.Leu196=) rs562915665 0.00003
NM_024079.5(ALG8):c.673+4A>G rs1470636347 0.00003
NM_024105.4(ALG12):c.1144C>T (p.Leu382=) rs745820643 0.00003
NM_024105.4(ALG12):c.1163-20G>C rs371655793 0.00003
NM_024105.4(ALG12):c.1164C>T (p.Asp388=) rs557130467 0.00003
NM_024105.4(ALG12):c.1272A>G (p.Thr424=) rs368420135 0.00003
NM_024105.4(ALG12):c.1427C>G (p.Thr476Arg) rs142815771 0.00003
NM_024105.4(ALG12):c.1456C>T (p.Arg486Trp) rs745477655 0.00003
NM_024105.4(ALG12):c.1461G>A (p.Pro487=) rs541941913 0.00003
NM_024105.4(ALG12):c.183C>T (p.Pro61=) rs749156618 0.00003
NM_024105.4(ALG12):c.29G>A (p.Arg10Gln) rs778413165 0.00003
NM_024105.4(ALG12):c.401C>T (p.Thr134Met) rs201405631 0.00003
NM_024105.4(ALG12):c.469+17C>T rs752634210 0.00003
NM_024105.4(ALG12):c.470-15C>T rs367584975 0.00003
NM_024105.4(ALG12):c.496C>T (p.Arg166Trp) rs375139092 0.00003
NM_024105.4(ALG12):c.502G>A (p.Glu168Lys) rs754565538 0.00003
NM_024105.4(ALG12):c.605G>A (p.Arg202Gln) rs746493927 0.00003
NM_024105.4(ALG12):c.671C>T (p.Thr224Met) rs755892540 0.00003
NM_024105.4(ALG12):c.837C>T (p.Ile279=) rs200095556 0.00003
NM_024105.4(ALG12):c.842T>G (p.Leu281Arg) rs767435558 0.00003
NM_024105.4(ALG12):c.869C>T (p.Ala290Val) rs201508940 0.00003
NM_024105.4(ALG12):c.889G>A (p.Gly297Ser) rs199937362 0.00003
NM_024105.4(ALG12):c.912C>T (p.Leu304=) rs1226459157 0.00003
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) rs746215829 0.00003
NM_024592.5(SRD5A3):c.*2560A>G rs886059483 0.00003
NM_024592.5(SRD5A3):c.*2804C>T rs886059484 0.00003
NM_024592.5(SRD5A3):c.*594C>T rs1445697837 0.00003
NM_024592.5(SRD5A3):c.140A>G (p.Gln47Arg) rs764835755 0.00003
NM_024592.5(SRD5A3):c.262G>A (p.Gly88Ser) rs374807694 0.00003
NM_024592.5(SRD5A3):c.423A>G (p.Leu141=) rs143299030 0.00003
NM_024592.5(SRD5A3):c.802G>A (p.Val268Ile) rs549620113 0.00003
NM_024740.2(ALG9):c.*1687A>T rs367569393 0.00003
NM_024740.2(ALG9):c.*2339T>G rs886047673 0.00003
NM_024740.2(ALG9):c.*306G>A rs886047683 0.00003
NM_024740.2(ALG9):c.*773A>G rs886047679 0.00003
NM_024740.2(ALG9):c.1660C>T (p.Arg554Trp) rs782084496 0.00003
NM_024740.2(ALG9):c.477-15T>C rs782507133 0.00003
NM_024740.2(ALG9):c.504C>T (p.His168=) rs782753981 0.00003
NM_033087.4(ALG2):c.10G>A (p.Glu4Lys) rs1329170357 0.00003
NM_033087.4(ALG2):c.159C>T (p.His53=) rs527683080 0.00003
NM_033087.4(ALG2):c.1A>G (p.Met1Val) rs750172644 0.00003
NM_033087.4(ALG2):c.233G>A (p.Gly78Asp) rs934545988 0.00003
NM_033087.4(ALG2):c.239G>A (p.Gly80Asp) rs752081241 0.00003
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser) rs377047079 0.00003
NM_033087.4(ALG2):c.495C>T (p.Tyr165=) rs962112292 0.00003
NM_033087.4(ALG2):c.783G>A (p.Arg261=) rs765386769 0.00003
NM_052859.4(RFT1):c.*2214C>T rs886058719 0.00003
NM_052859.4(RFT1):c.*2215G>A rs886058718 0.00003
NM_052859.4(RFT1):c.*2996G>A rs1223140817 0.00003
NM_052859.4(RFT1):c.*84A>T rs553703050 0.00003
NM_052859.4(RFT1):c.-1T>C rs886058729 0.00003
NM_052859.4(RFT1):c.1071C>T (p.Ile357=) rs367909153 0.00003
NM_052859.4(RFT1):c.1075G>A (p.Gly359Arg) rs201876415 0.00003
NM_052859.4(RFT1):c.117G>A (p.Leu39=) rs368675325 0.00003
NM_052859.4(RFT1):c.121A>G (p.Lys41Glu) rs886058728 0.00003
NM_052859.4(RFT1):c.1285G>A (p.Val429Met) rs145175244 0.00003
NM_052859.4(RFT1):c.1324C>T (p.Arg442Trp) rs146610276 0.00003
NM_052859.4(RFT1):c.200G>A (p.Arg67His) rs753527390 0.00003
NM_052859.4(RFT1):c.23G>A (p.Gly8Asp) rs151322409 0.00003
NM_052859.4(RFT1):c.264A>G (p.Leu88=) rs751934184 0.00003
NM_052859.4(RFT1):c.267-9C>G rs1396877928 0.00003
NM_052859.4(RFT1):c.590A>G (p.Tyr197Cys) rs781527440 0.00003
NM_052859.4(RFT1):c.778G>A (p.Glu260Lys) rs766766673 0.00003
NM_052859.4(RFT1):c.781C>G (p.Arg261Gly) rs766042717 0.00003
NM_138459.5(NUS1):c.445A>G (p.Met149Val) rs1276753307 0.00003
NM_138459.5(NUS1):c.692-19G>A rs754104717 0.00003
NM_138459.5(NUS1):c.791+16_791+17insTTTGTTTAGATTCA rs1201766536 0.00003
NM_138459.5(NUS1):c.791+19_791+20insAT rs1239155154 0.00003
NM_178862.3(STT3B):c.1335A>G (p.Leu445=) rs775157879 0.00003
NM_178862.3(STT3B):c.777+11A>G rs537758327 0.00003
NM_000303.3(PMM2):c.*1103C>T rs886052470 0.00002
NM_000303.3(PMM2):c.*1138T>G rs999681403 0.00002
NM_000303.3(PMM2):c.*972C>T rs746081212 0.00002
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899 0.00002
NM_000303.3(PMM2):c.154G>C (p.Val52Leu) rs148608841 0.00002
NM_000303.3(PMM2):c.15C>A (p.Gly5=) rs1277297216 0.00002
NM_000303.3(PMM2):c.178+1G>A rs935962174 0.00002
NM_000303.3(PMM2):c.255+1G>A rs1060499598 0.00002
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter) rs191295403 0.00002
NM_000303.3(PMM2):c.447+5G>A rs367852554 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000303.3(PMM2):c.524-16C>T rs748427371 0.00002
NM_000303.3(PMM2):c.548T>C (p.Phe183Ser) rs780581250 0.00002
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225 0.00002
NM_000303.3(PMM2):c.680T>C (p.Met227Thr) rs772410793 0.00002
NM_000303.3(PMM2):c.69A>G (p.Lys23=) rs1189907173 0.00002
NM_000303.3(PMM2):c.711G>A (p.Thr237=) rs753794337 0.00002
NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu) rs748117240 0.00002
NM_001099922.3(ALG13):c.1005+15G>A rs751530957 0.00002
NM_001099922.3(ALG13):c.1005+4A>G rs758242204 0.00002
NM_001099922.3(ALG13):c.1210G>A (p.Glu404Lys) rs1272022379 0.00002
NM_001099922.3(ALG13):c.1377C>T (p.Ala459=) rs368020541 0.00002
NM_001099922.3(ALG13):c.1397G>A (p.Arg466His) rs371858098 0.00002
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His) rs760560180 0.00002
NM_001099922.3(ALG13):c.148C>T (p.Pro50Ser) rs1461394942 0.00002
NM_001099922.3(ALG13):c.1596G>A (p.Ala532=) rs891310320 0.00002
NM_001099922.3(ALG13):c.1664A>G (p.Asn555Ser) rs1198802633 0.00002
NM_001099922.3(ALG13):c.1670T>C (p.Met557Thr) rs1255485671 0.00002
NM_001099922.3(ALG13):c.1804A>G (p.Met602Val) rs370151362 0.00002
NM_001099922.3(ALG13):c.1822G>C (p.Asp608His) rs374870130 0.00002
NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr) rs1194966893 0.00002
NM_001099922.3(ALG13):c.1977-12C>T rs374618611 0.00002
NM_001099922.3(ALG13):c.2012C>T (p.Pro671Leu) rs770150113 0.00002
NM_001099922.3(ALG13):c.2078C>T (p.Ser693Phe) rs919912146 0.00002
NM_001099922.3(ALG13):c.207A>C (p.Glu69Asp) rs745826764 0.00002
NM_001099922.3(ALG13):c.2089C>T (p.Arg697Cys) rs1376010208 0.00002
NM_001099922.3(ALG13):c.2112C>T (p.Arg704=) rs775927215 0.00002
NM_001099922.3(ALG13):c.2194A>G (p.Ile732Val) rs1278669534 0.00002
NM_001099922.3(ALG13):c.2248-11C>T rs377064873 0.00002
NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser) rs773286994 0.00002
NM_001099922.3(ALG13):c.2324A>G (p.Lys775Arg) rs766946325 0.00002
NM_001099922.3(ALG13):c.2328G>C (p.Gln776His) rs750005344 0.00002
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu) rs745411126 0.00002
NM_001099922.3(ALG13):c.2529+3A>G rs1943111596 0.00002
NM_001099922.3(ALG13):c.2726C>A (p.Ser909Tyr) rs377097716 0.00002
NM_001099922.3(ALG13):c.2754A>G (p.Leu918=) rs1057523456 0.00002
NM_001099922.3(ALG13):c.2839C>T (p.Leu947Phe) rs758632567 0.00002
NM_001099922.3(ALG13):c.2863T>C (p.Leu955=) rs1200753439 0.00002
NM_001099922.3(ALG13):c.2973+20T>A rs368694871 0.00002
NM_001099922.3(ALG13):c.3017A>G (p.Gln1006Arg) rs753692221 0.00002
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala) rs3027818 0.00002
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His) rs1264248744 0.00002
NM_001099922.3(ALG13):c.3404A>G (p.Gln1135Arg) rs771207661 0.00002
NM_001099922.3(ALG13):c.360T>C (p.Gly120=) rs747837898 0.00002
NM_001099922.3(ALG13):c.378C>T (p.Thr126=) rs777042118 0.00002
NM_001099922.3(ALG13):c.419C>T (p.Ala140Val) rs373025706 0.00002
NM_001099922.3(ALG13):c.441A>G (p.Gln147=) rs1391605283 0.00002
NM_001099922.3(ALG13):c.532A>G (p.Thr178Ala) rs754377859 0.00002
NM_001099922.3(ALG13):c.541A>G (p.Thr181Ala) rs774646647 0.00002
NM_001099922.3(ALG13):c.54G>A (p.Ala18=) rs1406539581 0.00002
NM_001099922.3(ALG13):c.588T>G (p.Pro196=) rs747214832 0.00002
NM_001099922.3(ALG13):c.680G>A (p.Gly227Asp) rs760283484 0.00002
NM_001099922.3(ALG13):c.696T>C (p.Phe232=) rs766736046 0.00002
NM_001099922.3(ALG13):c.6G>A (p.Lys2=) rs1380956380 0.00002
NM_001099922.3(ALG13):c.804T>C (p.Tyr268=) rs1375106247 0.00002
NM_001099922.3(ALG13):c.834+3A>G rs370066652 0.00002
NM_001099922.3(ALG13):c.885+14T>C rs746055178 0.00002
NM_001099922.3(ALG13):c.886-19A>G rs773121084 0.00002
NM_001099922.3(ALG13):c.889A>G (p.Ser297Gly) rs372176416 0.00002
NM_001099922.3(ALG13):c.933-4A>G rs1389043493 0.00002
NM_001099922.3(ALG13):c.995A>G (p.Tyr332Cys) rs370098098 0.00002
NM_001382.4(DPAGT1):c.-39C>T rs749047996 0.00002
NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln) rs747825322 0.00002
NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu) rs764519878 0.00002
NM_001382.4(DPAGT1):c.257A>T (p.Gln86Leu) rs751806317 0.00002
NM_001382.4(DPAGT1):c.270C>T (p.Phe90=) rs780625734 0.00002
NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro) rs772211450 0.00002
NM_001382.4(DPAGT1):c.497-5C>T rs556782038 0.00002
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) rs28934876 0.00002
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met) rs745872044 0.00002
NM_001382.4(DPAGT1):c.917+6C>T rs539220035 0.00002
NM_001382.4(DPAGT1):c.989G>A (p.Gly330Asp) rs780497256 0.00002
NM_002435.3(MPI):c.*109T>C rs905180827 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.345+26G>A rs144839533 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.739G>A (p.Gly247Ser) rs557366025 0.00002
NM_002435.3(MPI):c.90G>A (p.Leu30=) rs760006403 0.00002
NM_002633.3(PGM1):c.1027C>T (p.Arg343Trp) rs577589562 0.00002
NM_002633.3(PGM1):c.1104G>A (p.Ala368=) rs776558188 0.00002
NM_002633.3(PGM1):c.1170T>C (p.Asp390=) rs779705334 0.00002
NM_002633.3(PGM1):c.1311C>T (p.Gly437=) rs774957793 0.00002
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp) rs775651976 0.00002
NM_002633.3(PGM1):c.254G>A (p.Arg85His) rs200225686 0.00002
NM_002633.3(PGM1):c.602G>A (p.Ser201Asn) rs139241922 0.00002
NM_003859.3(DPM1):c.109C>A (p.Arg37Ser) rs369939483 0.00002
NM_003859.3(DPM1):c.296-10T>C rs765027931 0.00002
NM_003859.3(DPM1):c.455G>T (p.Gly152Val) rs587777116 0.00002
NM_003859.3(DPM1):c.494+2T>C rs1478040715 0.00002
NM_003859.3(DPM1):c.494+8C>T rs367586095 0.00002
NM_003859.3(DPM1):c.622G>A (p.Val208Ile) rs938379512 0.00002
NM_003859.3(DPM1):c.726A>G (p.Gly242=) rs772092645 0.00002
NM_003863.4(DPM2):c.3+6A>G rs776375979 0.00002
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter) rs62130681 0.00002
NM_004341.5(CAD):c.5488A>G (p.Met1830Val) rs747817554 0.00002
NM_004870.4(MPDU1):c.121C>G (p.Leu41Val) rs199498675 0.00002
NM_004870.4(MPDU1):c.619-2A>G rs368123972 0.00002
NM_004870.4(MPDU1):c.652G>T (p.Val218Leu) rs142953652 0.00002
NM_004870.4(MPDU1):c.672C>T (p.Asn224=) rs535356783 0.00002
NM_005216.5(DDOST):c.109C>T (p.Leu37Phe) rs150936849 0.00002
NM_005216.5(DDOST):c.1305G>A (p.Lys435=) rs370226725 0.00002
NM_005216.5(DDOST):c.619T>G (p.Phe207Val) rs145758022 0.00002
NM_005787.6(ALG3):c.1061G>A (p.Arg354His) rs546890576 0.00002
NM_005787.6(ALG3):c.1107C>T (p.Pro369=) rs753913644 0.00002
NM_005787.6(ALG3):c.606-10C>T rs372141050 0.00002
NM_012463.4(ATP6V0A2):c.1129G>A (p.Glu377Lys) rs370299179 0.00002
NM_012463.4(ATP6V0A2):c.2028T>G (p.Asn676Lys) rs763022700 0.00002
NM_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=) rs202084330 0.00002
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) rs144946016 0.00002
NM_012463.4(ATP6V0A2):c.2244C>A (p.Ser748=) rs759226841 0.00002
NM_012463.4(ATP6V0A2):c.2250C>T (p.Thr750=) rs759193879 0.00002
NM_012463.4(ATP6V0A2):c.2274G>A (p.Ala758=) rs1308437998 0.00002
NM_012463.4(ATP6V0A2):c.2294A>G (p.Gln765Arg) rs754014350 0.00002
NM_012463.4(ATP6V0A2):c.2320C>T (p.Leu774=) rs1337898685 0.00002
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857 0.00002
NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=) rs571286312 0.00002
NM_012463.4(ATP6V0A2):c.435T>G (p.Phe145Leu) rs772179448 0.00002
NM_012463.4(ATP6V0A2):c.521+17G>A rs192339944 0.00002
NM_012463.4(ATP6V0A2):c.877G>A (p.Glu293Lys) rs368924297 0.00002
NM_013339.4(ALG6):c.1056A>G (p.Ser352=) rs371100177 0.00002
NM_013339.4(ALG6):c.1200T>C (p.Ala400=) rs780988843 0.00002
NM_013339.4(ALG6):c.1315A>G (p.Ile439Val) rs1259683238 0.00002
NM_013339.4(ALG6):c.1326+20A>G rs1382330745 0.00002
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915 0.00002
NM_013339.4(ALG6):c.168-17C>G rs536808870 0.00002
NM_013339.4(ALG6):c.257+11C>G rs774093513 0.00002
NM_013339.4(ALG6):c.257+2dup rs745426479 0.00002
NM_013339.4(ALG6):c.337C>T (p.Arg113Cys) rs754672490 0.00002
NM_013339.4(ALG6):c.347-13C>G rs981893296 0.00002
NM_013339.4(ALG6):c.495-16C>A rs371088118 0.00002
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln) rs1287725303 0.00002
NM_013339.4(ALG6):c.54A>G (p.Arg18=) rs373800951 0.00002
NM_013339.4(ALG6):c.681-5T>C rs778405436 0.00002
NM_013339.4(ALG6):c.727G>A (p.Val243Ile) rs367674567 0.00002
NM_013339.4(ALG6):c.82+19T>C rs376116153 0.00002
NM_013339.4(ALG6):c.839G>A (p.Cys280Tyr) rs756608021 0.00002
NM_013339.4(ALG6):c.902+19G>A rs1057522483 0.00002
NM_013339.4(ALG6):c.921G>A (p.Leu307=) rs572008178 0.00002
NM_013339.4(ALG6):c.95C>T (p.Pro32Leu) rs770413804 0.00002
NM_014908.4(DOLK):c.-22G>A rs754288997 0.00002
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr) rs769241947 0.00002
NM_014908.4(DOLK):c.1087G>A (p.Ala363Thr) rs1588262062 0.00002
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs) rs919111760 0.00002
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile) rs372057636 0.00002
NM_014908.4(DOLK):c.1326C>T (p.Ala442=) rs762899278 0.00002
NM_014908.4(DOLK):c.1491G>A (p.Val497=) rs749118990 0.00002
NM_014908.4(DOLK):c.164A>G (p.Tyr55Cys) rs41305507 0.00002
NM_014908.4(DOLK):c.385G>T (p.Ala129Ser) rs761013512 0.00002
NM_014908.4(DOLK):c.429C>G (p.Ile143Met) rs1261719011 0.00002
NM_014908.4(DOLK):c.572C>A (p.Pro191His) rs767965852 0.00002
NM_014908.4(DOLK):c.589G>A (p.Val197Ile) rs373587710 0.00002
NM_014908.4(DOLK):c.885C>T (p.Asp295=) rs762558659 0.00002
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln) rs373115419 0.00002
NM_019109.4(ALG1):c.196C>T (p.Leu66=) rs753405851 0.00002
NM_019109.5(ALG1):c.1001A>G (p.His334Arg) rs756058300 0.00002
NM_019109.5(ALG1):c.1055A>T (p.Asp352Val) rs765238558 0.00002
NM_019109.5(ALG1):c.1187+1G>A rs374928784 0.00002
NM_019109.5(ALG1):c.1188-2A>G rs794727073 0.00002
NM_019109.5(ALG1):c.1250_1251insTG (p.Ala418fs) rs746019074 0.00002
NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp) rs764363207 0.00002
NM_019109.5(ALG1):c.135C>T (p.Arg45=) rs779092735 0.00002
NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr) rs765599429 0.00002
NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln) rs3204229 0.00002
NM_019109.5(ALG1):c.208+14_208+17dup rs746780708 0.00002
NM_019109.5(ALG1):c.401G>C (p.Gly134Ala) rs763309062 0.00002
NM_019109.5(ALG1):c.430G>A (p.Val144Met) rs770392954 0.00002
NM_019109.5(ALG1):c.579G>A (p.Leu193=) rs750145784 0.00002
NM_019109.5(ALG1):c.683A>G (p.Asp228Gly) rs759264819 0.00002
NM_019109.5(ALG1):c.820C>T (p.Arg274Cys) rs201867255 0.00002
NM_019109.5(ALG1):c.841G>T (p.Val281Phe) rs553396382 0.00002
NM_019109.5(ALG1):c.932A>G (p.Asn311Ser) rs549071467 0.00002
NM_019109.5(ALG1):c.934C>T (p.Leu312Phe) rs761452986 0.00002
NM_019109.5(ALG1):c.941C>T (p.Ser314Phe) rs569218235 0.00002
NM_019109.5(ALG1):c.945C>T (p.Leu315=) rs766773704 0.00002
NM_024079.5(ALG8):c.-5C>T rs886048689 0.00002
NM_024079.5(ALG8):c.1276+9C>T rs747836496 0.00002
NM_024079.5(ALG8):c.616G>A (p.Ala206Thr) rs769894472 0.00002
NM_024079.5(ALG8):c.897C>T (p.Ile299=) rs886048686 0.00002
NM_024079.5(ALG8):c.95+16G>A rs376357429 0.00002
NM_024105.4(ALG12):c.*276T>G rs760147302 0.00002
NM_024105.4(ALG12):c.1020G>A (p.Leu340=) rs774752704 0.00002
NM_024105.4(ALG12):c.1119C>T (p.Gly373=) rs765700872 0.00002
NM_024105.4(ALG12):c.1122C>T (p.Val374=) rs373583849 0.00002
NM_024105.4(ALG12):c.1133G>A (p.Arg378Lys) rs148798409 0.00002
NM_024105.4(ALG12):c.1183G>A (p.Val395Met) rs759024738 0.00002
NM_024105.4(ALG12):c.1231G>A (p.Ala411Thr) rs755033821 0.00002
NM_024105.4(ALG12):c.1239-16A>G rs915149632 0.00002
NM_024105.4(ALG12):c.1242C>T (p.Tyr414=) rs121907935 0.00002
NM_024105.4(ALG12):c.1363G>A (p.Val455Met) rs367671008 0.00002
NM_024105.4(ALG12):c.1413C>T (p.Asn471=) rs767232423 0.00002
NM_024105.4(ALG12):c.163-4G>A rs776043296 0.00002
NM_024105.4(ALG12):c.166G>A (p.Asp56Asn) rs201033281 0.00002
NM_024105.4(ALG12):c.184G>A (p.Gly62Arg) rs777719396 0.00002
NM_024105.4(ALG12):c.207C>T (p.Leu69=) rs765297992 0.00002
NM_024105.4(ALG12):c.434C>T (p.Thr145Met) rs748460466 0.00002
NM_024105.4(ALG12):c.435G>A (p.Thr145=) rs781076714 0.00002
NM_024105.4(ALG12):c.470-10T>C rs925389913 0.00002
NM_024105.4(ALG12):c.470-3C>T rs751546611 0.00002
NM_024105.4(ALG12):c.535G>A (p.Ala179Thr) rs952664215 0.00002
NM_024105.4(ALG12):c.57C>T (p.Ala19=) rs763942380 0.00002
NM_024105.4(ALG12):c.776C>T (p.Pro259Leu) rs149109851 0.00002
NM_024592.5(SRD5A3):c.*1567T>C rs886059475 0.00002
NM_024592.5(SRD5A3):c.124G>A (p.Gly42Ser) rs145649665 0.00002
NM_024592.5(SRD5A3):c.2T>C (p.Met1Thr) rs548088851 0.00002
NM_024592.5(SRD5A3):c.365-19G>C rs376721684 0.00002
NM_024592.5(SRD5A3):c.444C>T (p.Leu148=) rs201424796 0.00002
NM_024592.5(SRD5A3):c.673G>A (p.Gly225Ser) rs748408459 0.00002
NM_024740.2(ALG9):c.*1311A>G rs912924184 0.00002
NM_024740.2(ALG9):c.188A>G (p.Lys63Arg) rs781991188 0.00002
NM_024740.2(ALG9):c.388A>G (p.Ile130Val) rs782298472 0.00002
NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr) rs138258236 0.00002
NM_033087.4(ALG2):c.1218G>C (p.Gln406His) rs763754023 0.00002
NM_033087.4(ALG2):c.1230T>C (p.Tyr410=) rs372356780 0.00002
NM_033087.4(ALG2):c.180C>G (p.Phe60Leu) rs777441526 0.00002
NM_033087.4(ALG2):c.20G>A (p.Arg7Gln) rs776974668 0.00002
NM_033087.4(ALG2):c.248G>A (p.Gly83Asp) rs376627887 0.00002
NM_033087.4(ALG2):c.361A>G (p.Ile121Val) rs774204697 0.00002
NM_033087.4(ALG2):c.426G>C (p.Leu142=) rs778882264 0.00002
NM_033087.4(ALG2):c.462A>G (p.Leu154=) rs746100517 0.00002
NM_033087.4(ALG2):c.484A>G (p.Ile162Val) rs529195050 0.00002
NM_033087.4(ALG2):c.6G>A (p.Ala2=) rs766287162 0.00002
NM_033087.4(ALG2):c.752G>A (p.Arg251His) rs201729325 0.00002
NM_033087.4(ALG2):c.784G>T (p.Val262Phe) rs1229029511 0.00002
NM_033087.4(ALG2):c.93G>C (p.Arg31=) rs1012959999 0.00002
NM_052859.4(RFT1):c.*972A>G rs1442056912 0.00002
NM_052859.4(RFT1):c.1102+5G>A rs947230997 0.00002
NM_052859.4(RFT1):c.1187T>C (p.Met396Thr) rs759448727 0.00002
NM_052859.4(RFT1):c.1286T>C (p.Val429Ala) rs748400773 0.00002
NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln) rs749968109 0.00002
NM_052859.4(RFT1):c.1354C>T (p.Arg452Cys) rs754157422 0.00002
NM_052859.4(RFT1):c.1606C>T (p.Arg536Cys) rs376867132 0.00002
NM_052859.4(RFT1):c.1607G>A (p.Arg536His) rs781398694 0.00002
NM_052859.4(RFT1):c.182T>C (p.Leu61Pro) rs758269687 0.00002
NM_052859.4(RFT1):c.22G>T (p.Gly8Cys) rs993455093 0.00002
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu) rs763862849 0.00002
NM_052859.4(RFT1):c.511G>A (p.Val171Met) rs561602179 0.00002
NM_052859.4(RFT1):c.558+10A>T rs780500145 0.00002
NM_052859.4(RFT1):c.64-16T>C rs773512206 0.00002
NM_052859.4(RFT1):c.801G>T (p.Leu267Phe) rs745687063 0.00002
NM_052859.4(RFT1):c.958-17C>T rs375365942 0.00002
NM_138459.5(NUS1):c.153G>T (p.Pro51=) rs868271796 0.00002
NM_138459.5(NUS1):c.199C>A (p.Arg67Ser) rs1433668009 0.00002
NM_138459.5(NUS1):c.324G>A (p.Val108=) rs769619847 0.00002
NM_138459.5(NUS1):c.638A>G (p.Gln213Arg) rs771454891 0.00002
NM_138459.5(NUS1):c.674C>T (p.Thr225Met) rs760187558 0.00002
NM_138459.5(NUS1):c.75G>C (p.Trp25Cys) rs774553541 0.00002
NM_152713.5(STT3A):c.1310G>A (p.Arg437His) rs776079118 0.00002
NM_153741.2(DPM3):c.179G>T (p.Arg60Leu) rs773427971 0.00002
NM_000303.3(PMM2):c.*1260C>T rs886052471 0.00001
NM_000303.3(PMM2):c.*1345T>C rs144652247 0.00001
NM_000303.3(PMM2):c.*658C>T rs549756162 0.00001
NM_000303.3(PMM2):c.*891C>T rs886052468 0.00001
NM_000303.3(PMM2):c.111G>A (p.Gln37=) rs762773046 0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.126A>G (p.Gly42=) rs766984518 0.00001
NM_000303.3(PMM2):c.127G>C (p.Val43Leu) rs376754460 0.00001
NM_000303.3(PMM2):c.129G>C (p.Val43=) rs777608895 0.00001
NM_000303.3(PMM2):c.141G>A (p.Ser47=) rs533650526 0.00001
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp) rs773813007 0.00001
NM_000303.3(PMM2):c.159G>A (p.Gln53=) rs1481859853 0.00001
NM_000303.3(PMM2):c.178+12G>A rs2060618999 0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000303.3(PMM2):c.179-4G>T rs776262869 0.00001
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr) rs104894527 0.00001
NM_000303.3(PMM2):c.213T>C (p.Asn71=) rs1209724849 0.00001
NM_000303.3(PMM2):c.240A>G (p.Lys80=) rs748552663 0.00001
NM_000303.3(PMM2):c.252A>T (p.Arg84Ser) rs375826588 0.00001
NM_000303.3(PMM2):c.255+5G>T rs370480677 0.00001
NM_000303.3(PMM2):c.255G>A (p.Gln85=) rs115344041 0.00001
NM_000303.3(PMM2):c.256-1G>C rs757394782 0.00001
NM_000303.3(PMM2):c.27C>T (p.Cys9=) rs1057516943 0.00001
NM_000303.3(PMM2):c.284del (p.Leu95fs) rs757865122 0.00001
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe) rs1215262242 0.00001
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys) rs1187245939 0.00001
NM_000303.3(PMM2):c.306C>T (p.Tyr102=) rs184769421 0.00001
NM_000303.3(PMM2):c.310C>G (p.Leu104Val) rs770458492 0.00001
NM_000303.3(PMM2):c.312G>A (p.Leu104=) rs773943361 0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NM_000303.3(PMM2):c.334C>G (p.Leu112Val) rs757323701 0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000303.3(PMM2):c.390C>T (p.Ser130=) rs763944822 0.00001
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) rs80338702 0.00001
NM_000303.3(PMM2):c.401G>A (p.Arg134Lys) rs1159211374 0.00001
NM_000303.3(PMM2):c.408C>T (p.Cys136=) rs371694616 0.00001
NM_000303.3(PMM2):c.414A>G (p.Gln138=) rs1465175487 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656 0.00001
NM_000303.3(PMM2):c.523+3A>G rs774107741 0.00001
NM_000303.3(PMM2):c.523+8A>G rs374840518 0.00001
NM_000303.3(PMM2):c.524-15G>A rs770574770 0.00001
NM_000303.3(PMM2):c.524-6C>T rs772184641 0.00001
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro) rs757040733 0.00001
NM_000303.3(PMM2):c.531G>C (p.Gln177His) rs771162235 0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000303.3(PMM2):c.545T>A (p.Val182Asp) rs774532663 0.00001
NM_000303.3(PMM2):c.549T>C (p.Phe183=) rs1426754260 0.00001
NM_000303.3(PMM2):c.559T>C (p.Trp187Arg) rs781346472 0.00001
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter) rs1057516886 0.00001
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704 0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895 0.00001
NM_000303.3(PMM2):c.593A>C (p.Asn198Thr) rs773420873 0.00001
NM_000303.3(PMM2):c.595G>C (p.Asp199His) rs1281138749 0.00001
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929 0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309 0.00001
NM_000303.3(PMM2):c.639+7A>G rs2060687125 0.00001
NM_000303.3(PMM2):c.640-7T>C rs1255464127 0.00001
NM_000303.3(PMM2):c.645C>T (p.Gly215=) rs765599626 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000303.3(PMM2):c.648T>C (p.Asn216=) rs139236770 0.00001
NM_000303.3(PMM2):c.652C>A (p.His218Asn) rs398123310 0.00001
NM_000303.3(PMM2):c.66+1G>T rs937726878 0.00001
NM_000303.3(PMM2):c.66+7G>A rs1272368081 0.00001
NM_000303.3(PMM2):c.690C>T (p.Ser230=) rs769332588 0.00001
NM_000303.3(PMM2):c.720C>A (p.Ile240=) rs923499720 0.00001
NM_000303.3(PMM2):c.95T>G (p.Leu32Arg) rs104894533 0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter) rs149530060 0.00001
NM_001004127.3(ALG11):c.1034G>T (p.Cys345Phe) rs886050313 0.00001
NM_001004127.3(ALG11):c.1214T>C (p.Val405Ala) rs200978613 0.00001
NM_001004127.3(ALG11):c.497A>G (p.Gln166Arg) rs756365610 0.00001
NM_001004127.3(ALG11):c.946C>G (p.Pro316Ala) rs765431074 0.00001
NM_001004127.3(ALG11):c.987G>A (p.Lys329=) rs921029114 0.00001
NM_001099922.3(ALG13):c.1010T>A (p.Leu337Gln) rs1189252877 0.00001
NM_001099922.3(ALG13):c.1029T>C (p.Ser343=) rs772765360 0.00001
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg) rs372521943 0.00001
NM_001099922.3(ALG13):c.10G>A (p.Val4Met) rs1245567722 0.00001
NM_001099922.3(ALG13):c.1134A>G (p.Glu378=) rs778696912 0.00001
NM_001099922.3(ALG13):c.114C>T (p.Ile38=) rs1206750653 0.00001
NM_001099922.3(ALG13):c.1164T>C (p.Phe388=) rs1463398527 0.00001
NM_001099922.3(ALG13):c.1182G>A (p.Lys394=) rs1602694246 0.00001
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541 0.00001
NM_001099922.3(ALG13):c.1305T>G (p.Asn435Lys) rs1160640023 0.00001
NM_001099922.3(ALG13):c.1308A>G (p.Lys436=) rs1423402192 0.00001
NM_001099922.3(ALG13):c.1435+12T>C rs1051547008 0.00001
NM_001099922.3(ALG13):c.1603C>T (p.His535Tyr) rs1941811361 0.00001
NM_001099922.3(ALG13):c.1619C>T (p.Ala540Val) rs1234385710 0.00001
NM_001099922.3(ALG13):c.1630C>T (p.Pro544Ser) rs1941811792 0.00001
NM_001099922.3(ALG13):c.1641A>G (p.Gln547=) rs768589790 0.00001
NM_001099922.3(ALG13):c.1643T>C (p.Val548Ala) rs1238751751 0.00001
NM_001099922.3(ALG13):c.1661G>T (p.Trp554Leu) rs1364102879 0.00001
NM_001099922.3(ALG13):c.1694A>G (p.Tyr565Cys) rs1159974001 0.00001
NM_001099922.3(ALG13):c.1729+8T>C rs762562568 0.00001
NM_001099922.3(ALG13):c.172C>T (p.Leu58=) rs765437651 0.00001
NM_001099922.3(ALG13):c.1730-20C>T rs1942098220 0.00001
NM_001099922.3(ALG13):c.1730-3A>T rs1318967967 0.00001
NM_001099922.3(ALG13):c.1730-7C>T rs750726885 0.00001
NM_001099922.3(ALG13):c.1733T>C (p.Ile578Thr) rs780580927 0.00001
NM_001099922.3(ALG13):c.1772A>G (p.Lys591Arg) rs369838463 0.00001
NM_001099922.3(ALG13):c.1851C>T (p.His617=) rs1454391584 0.00001
NM_001099922.3(ALG13):c.1869C>T (p.His623=) rs747208594 0.00001
NM_001099922.3(ALG13):c.1896A>T (p.Thr632=) rs1258429433 0.00001
NM_001099922.3(ALG13):c.1910T>C (p.Met637Thr) rs774331771 0.00001
NM_001099922.3(ALG13):c.1921C>G (p.His641Asp) rs760283589 0.00001
NM_001099922.3(ALG13):c.1934A>C (p.Gln645Pro) rs765734812 0.00001
NM_001099922.3(ALG13):c.1947G>A (p.Pro649=) rs758659441 0.00001
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys) rs1164687660 0.00001
NM_001099922.3(ALG13):c.2033_2038del (p.Tyr678_Gly680delinsCys) rs764031698 0.00001
NM_001099922.3(ALG13):c.2055C>T (p.Cys685=) rs1942191104 0.00001
NM_001099922.3(ALG13):c.2066A>G (p.Tyr689Cys) rs1470650822 0.00001
NM_001099922.3(ALG13):c.2082T>C (p.Tyr694=) rs778640194 0.00001
NM_001099922.3(ALG13):c.2110C>T (p.Arg704Cys) rs767153325 0.00001
NM_001099922.3(ALG13):c.2260C>T (p.Pro754Ser) rs775045681 0.00001
NM_001099922.3(ALG13):c.2312A>G (p.His771Arg) rs756114101 0.00001
NM_001099922.3(ALG13):c.2320G>C (p.Gly774Arg) rs1208800822 0.00001
NM_001099922.3(ALG13):c.2351A>G (p.Asn784Ser) rs1478132547 0.00001
NM_001099922.3(ALG13):c.2368+10T>G rs1556509952 0.00001
NM_001099922.3(ALG13):c.2372G>A (p.Arg791Gln) rs374290658 0.00001
NM_001099922.3(ALG13):c.2376T>C (p.Tyr792=) rs776863825 0.00001
NM_001099922.3(ALG13):c.2395C>T (p.Arg799Cys) rs763877039 0.00001
NM_001099922.3(ALG13):c.2434A>G (p.Thr812Ala) rs781178409 0.00001
NM_001099922.3(ALG13):c.245-12T>G rs773672059 0.00001
NM_001099922.3(ALG13):c.245-20A>C rs747784575 0.00001
NM_001099922.3(ALG13):c.2475G>A (p.Lys825=) rs1298792527 0.00001
NM_001099922.3(ALG13):c.2495A>C (p.Gln832Pro) rs781652731 0.00001
NM_001099922.3(ALG13):c.2523C>T (p.Pro841=) rs1229717685 0.00001
NM_001099922.3(ALG13):c.2529+11T>C rs773084617 0.00001
NM_001099922.3(ALG13):c.2529+5T>C rs749420976 0.00001
NM_001099922.3(ALG13):c.2529+7C>T rs1307752089 0.00001
NM_001099922.3(ALG13):c.2529+9C>T rs771372378 0.00001
NM_001099922.3(ALG13):c.2543T>C (p.Ile848Thr) rs201541531 0.00001
NM_001099922.3(ALG13):c.2564G>A (p.Cys855Tyr) rs1279923204 0.00001
NM_001099922.3(ALG13):c.2593T>C (p.Ser865Pro) rs199990990 0.00001
NM_001099922.3(ALG13):c.2605G>A (p.Ala869Thr) rs1202237862 0.00001
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727 0.00001
NM_001099922.3(ALG13):c.2695+15G>C rs1057522064 0.00001
NM_001099922.3(ALG13):c.2703C>T (p.Ala901=) rs1190999050 0.00001
NM_001099922.3(ALG13):c.273A>G (p.Glu91=) rs1057522348 0.00001
NM_001099922.3(ALG13):c.2758C>A (p.Pro920Thr) rs748792396 0.00001
NM_001099922.3(ALG13):c.2853G>T (p.Glu951Asp) rs755910935 0.00001
NM_001099922.3(ALG13):c.2884C>T (p.Pro962Ser) rs1172385892 0.00001
NM_001099922.3(ALG13):c.2913C>T (p.Ser971=) rs1944100964 0.00001
NM_001099922.3(ALG13):c.2932+17A>G rs760993782 0.00001
NM_001099922.3(ALG13):c.2944T>C (p.Leu982=) rs759545615 0.00001
NM_001099922.3(ALG13):c.3084C>T (p.Thr1028=) rs758300150 0.00001
NM_001099922.3(ALG13):c.3145A>G (p.Asn1049Asp) rs759347694 0.00001
NM_001099922.3(ALG13):c.3159G>A (p.Pro1053=) rs1556539037 0.00001
NM_001099922.3(ALG13):c.3190G>A (p.Ala1064Thr) rs756710193 0.00001
NM_001099922.3(ALG13):c.3197A>G (p.Tyr1066Cys) rs1219035683 0.00001
NM_001099922.3(ALG13):c.3225G>A (p.Gly1075=) rs771997156 0.00001
NM_001099922.3(ALG13):c.3239C>T (p.Pro1080Leu) rs375062698 0.00001
NM_001099922.3(ALG13):c.3241G>A (p.Gly1081Ser) rs760819207 0.00001
NM_001099922.3(ALG13):c.3261G>A (p.Pro1087=) rs775320246 0.00001
NM_001099922.3(ALG13):c.3264T>C (p.Val1088=) rs762647183 0.00001
NM_001099922.3(ALG13):c.3270A>G (p.Pro1090=) rs1399015543 0.00001
NM_001099922.3(ALG13):c.3278C>T (p.Ser1093Phe) rs1465704791 0.00001
NM_001099922.3(ALG13):c.3301G>C (p.Val1101Leu) rs1370248370 0.00001
NM_001099922.3(ALG13):c.3337G>A (p.Gly1113Ser) rs755772374 0.00001
NM_001099922.3(ALG13):c.3382C>T (p.Pro1128Ser) rs772141937 0.00001
NM_001099922.3(ALG13):c.358G>A (p.Gly120Ser) rs778521226 0.00001
NM_001099922.3(ALG13):c.384-8T>C rs1276902484 0.00001
NM_001099922.3(ALG13):c.388C>G (p.Leu130Val) rs1381653955 0.00001
NM_001099922.3(ALG13):c.389T>C (p.Leu130Pro) rs1220905347 0.00001
NM_001099922.3(ALG13):c.426T>C (p.Ala142=) rs759472632 0.00001
NM_001099922.3(ALG13):c.429T>C (p.Pro143=) rs1173829709 0.00001
NM_001099922.3(ALG13):c.43G>A (p.Asp15Asn) rs776133794 0.00001
NM_001099922.3(ALG13):c.456G>A (p.Leu152=) rs762934062 0.00001
NM_001099922.3(ALG13):c.486T>C (p.Phe162=) rs751015058 0.00001
NM_001099922.3(ALG13):c.571G>A (p.Ala191Thr) rs778099828 0.00001
NM_001099922.3(ALG13):c.602T>C (p.Leu201Pro) rs1042682745 0.00001
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp) rs886042566 0.00001
NM_001099922.3(ALG13):c.744G>A (p.Ser248=) rs755327837 0.00001
NM_001099922.3(ALG13):c.886-12A>G rs770400535 0.00001
NM_001099922.3(ALG13):c.886-17A>G rs1057523046 0.00001
NM_001367916.1(MAGT1):c.-3A>G rs781882781 0.00001
NM_001382.4(DPAGT1):c.*386G>A rs982028493 0.00001
NM_001382.4(DPAGT1):c.1006-8C>G rs1357255095 0.00001
NM_001382.4(DPAGT1):c.1018C>T (p.Leu340Phe) rs376996734 0.00001
NM_001382.4(DPAGT1):c.1024C>G (p.Leu342Val) rs555841797 0.00001
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg) rs1301940016 0.00001
NM_001382.4(DPAGT1):c.1134C>T (p.Asn378=) rs761911331 0.00001
NM_001382.4(DPAGT1):c.1141T>C (p.Leu381=) rs768805817 0.00001
NM_001382.4(DPAGT1):c.1161+10G>A rs761082821 0.00001
NM_001382.4(DPAGT1):c.1188C>T (p.Ser396=) rs747073447 0.00001
NM_001382.4(DPAGT1):c.1192C>T (p.Arg398Ter) rs187919120 0.00001
NM_001382.4(DPAGT1):c.1203C>T (p.Leu401=) rs746759603 0.00001
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile) rs779911586 0.00001
NM_001382.4(DPAGT1):c.1210C>T (p.Leu404Phe) rs1272156856 0.00001
NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=) rs772133269 0.00001
NM_001382.4(DPAGT1):c.1224C>T (p.Val408=) rs200588529 0.00001
NM_001382.4(DPAGT1):c.161+5G>A rs397515322 0.00001
NM_001382.4(DPAGT1):c.161+6C>T rs762402071 0.00001
NM_001382.4(DPAGT1):c.162-20C>T rs749879111 0.00001
NM_001382.4(DPAGT1):c.175G>A (p.Gly59Arg) rs1041735569 0.00001
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu) rs1057521151 0.00001
NM_001382.4(DPAGT1):c.216C>T (p.Cys72=) rs1438468092 0.00001
NM_001382.4(DPAGT1):c.26dup (p.Met9fs) rs768656482 0.00001
NM_001382.4(DPAGT1):c.277C>G (p.His93Asp) rs1234809605 0.00001
NM_001382.4(DPAGT1):c.332T>G (p.Leu111Arg) rs759595271 0.00001
NM_001382.4(DPAGT1):c.34C>T (p.Leu12=) rs200991527 0.00001
NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln) rs368415403 0.00001
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=) rs1555207826 0.00001
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys) rs746187785 0.00001
NM_001382.4(DPAGT1):c.412A>G (p.Met138Val) rs532412952 0.00001
NM_001382.4(DPAGT1):c.460C>T (p.Pro154Ser) rs1229553796 0.00001
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys) rs762796464 0.00001
NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu) rs1328286236 0.00001
NM_001382.4(DPAGT1):c.471G>A (p.Pro157=) rs376528767 0.00001
NM_001382.4(DPAGT1):c.485A>G (p.His162Arg) rs775716973 0.00001
NM_001382.4(DPAGT1):c.495G>A (p.Leu165=) rs373632825 0.00001
NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly) rs863225088 0.00001
NM_001382.4(DPAGT1):c.621C>T (p.Val207=) rs778726543 0.00001
NM_001382.4(DPAGT1):c.633A>G (p.Val211=) rs767551785 0.00001
NM_001382.4(DPAGT1):c.643+14G>C rs536452844 0.00001
NM_001382.4(DPAGT1):c.643+2T>C rs774754436 0.00001
NM_001382.4(DPAGT1):c.652C>T (p.Arg218Trp) rs1053302601 0.00001
NM_001382.4(DPAGT1):c.699dup (p.Thr234fs) rs397515321 0.00001
NM_001382.4(DPAGT1):c.714G>A (p.Leu238=) rs1371529040 0.00001
NM_001382.4(DPAGT1):c.729-10C>A rs1413156382 0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) rs772988029 0.00001
NM_001382.4(DPAGT1):c.828A>G (p.Leu276=) rs780516960 0.00001
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val) rs376322200 0.00001
NM_001382.4(DPAGT1):c.901C>T (p.Arg301Cys) rs776632995 0.00001
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His) rs768416381 0.00001
NM_001382.4(DPAGT1):c.933A>G (p.Thr311=) rs1432186196 0.00001
NM_001382.4(DPAGT1):c.96C>T (p.Phe32=) rs779048359 0.00001
NM_002435.3(MPI):c.*441G>C rs1042476793 0.00001
NM_002435.3(MPI):c.*483G>C rs886051486 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.1122G>C (p.Gln374His) rs753458883 0.00001
NM_002435.3(MPI):c.1156A>T (p.Thr386Ser) rs769768397 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.1253G>A (p.Arg418His) rs863225087 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.472G>A (p.Val158Ile) rs886051482 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.628G>A (p.Val210Met) rs781158335 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.902A>G (p.Lys301Arg) rs534508637 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_002633.3(PGM1):c.*348G>A rs58522038 0.00001
NM_002633.3(PGM1):c.*357A>G rs886046484 0.00001
NM_002633.3(PGM1):c.1102G>A (p.Ala368Thr) rs748252747 0.00001
NM_002633.3(PGM1):c.1144+16G>A rs755514698 0.00001
NM_002633.3(PGM1):c.1367G>T (p.Gly456Val) rs777570538 0.00001
NM_002633.3(PGM1):c.1476C>T (p.Leu492=) rs1649899491 0.00001
NM_002633.3(PGM1):c.1485A>G (p.Thr495=) rs1172911815 0.00001
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter) rs745993071 0.00001
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) rs397515423 0.00001
NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln) rs1453920894 0.00001
NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro) rs587777401 0.00001
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly) rs757573887 0.00001
NM_002633.3(PGM1):c.159G>A (p.Gln53=) rs370087543 0.00001
NM_002633.3(PGM1):c.160G>A (p.Glu54Lys) rs772628932 0.00001
NM_002633.3(PGM1):c.1614C>T (p.Pro538=) rs775453982 0.00001
NM_002633.3(PGM1):c.187G>T (p.Gly63Cys) rs759782258 0.00001
NM_002633.3(PGM1):c.265G>A (p.Gly89Arg) rs377500536 0.00001
NM_002633.3(PGM1):c.327T>C (p.Ile109=) rs770271653 0.00001
NM_002633.3(PGM1):c.343A>G (p.Thr115Ala) rs121918371 0.00001
NM_002633.3(PGM1):c.356A>G (p.Asn119Ser) rs1213089649 0.00001
NM_002633.3(PGM1):c.425C>T (p.Ala142Val) rs1276461747 0.00001
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171 0.00001
NM_002633.3(PGM1):c.76G>A (p.Val26Met) rs1300863085 0.00001
NM_002633.3(PGM1):c.783C>T (p.His261=) rs886046481 0.00001
NM_002633.3(PGM1):c.873+6T>C rs368068987 0.00001
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln) rs1466885233 0.00001
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) rs778199808 0.00001
NM_002633.3(PGM1):c.986G>A (p.Arg329His) rs747394265 0.00001
NM_003859.3(DPM1):c.162-17A>G rs376823531 0.00001
NM_003859.3(DPM1):c.168C>G (p.Ile56Met) rs562769511 0.00001
NM_003859.3(DPM1):c.202C>G (p.Pro68Ala) rs1986767219 0.00001
NM_003859.3(DPM1):c.212C>T (p.Thr71Ile) rs750927313 0.00001
NM_003859.3(DPM1):c.219T>C (p.Asp73=) rs753295960 0.00001
NM_003859.3(DPM1):c.295+7C>T rs775797102 0.00001
NM_003859.3(DPM1):c.295+8G>A rs758553918 0.00001
NM_003859.3(DPM1):c.339C>T (p.Tyr113=) rs749555898 0.00001
NM_003859.3(DPM1):c.35G>T (p.Arg12Met) rs559291357 0.00001
NM_003859.3(DPM1):c.373-11T>C rs750138754 0.00001
NM_003859.3(DPM1):c.49C>G (p.Leu17Val) rs761143591 0.00001
NM_003859.3(DPM1):c.506A>G (p.Asn169Ser) rs727503905 0.00001
NM_003859.3(DPM1):c.52G>C (p.Glu18Gln) rs11553474 0.00001
NM_003859.3(DPM1):c.563+15T>C rs1285003493 0.00001
NM_003859.3(DPM1):c.571C>T (p.Arg191Ter) rs1324743951 0.00001
NM_003859.3(DPM1):c.63T>A (p.Ser21Arg) rs747972169 0.00001
NM_003859.3(DPM1):c.647G>A (p.Arg216Gln) rs769390268 0.00001
NM_003859.3(DPM1):c.675C>T (p.Gly225=) rs1414447653 0.00001
NM_003859.3(DPM1):c.678+4T>G rs948892336 0.00001
NM_003859.3(DPM1):c.678+8A>G rs771147863 0.00001
NM_003859.3(DPM1):c.679-12T>A rs1985048219 0.00001
NM_003859.3(DPM1):c.701G>A (p.Arg234His) rs760322056 0.00001
NM_003859.3(DPM1):c.754G>A (p.Gly252Arg) rs1205339617 0.00001
NM_003859.3(DPM1):c.757T>G (p.Leu253Val) rs773403940 0.00001
NM_003859.3(DPM1):c.763A>G (p.Thr255Ala) rs748394583 0.00001
NM_003863.3(DPM2):c.-208G>A rs1290789503 0.00001
NM_003863.3(DPM2):c.-88C>T rs886063484 0.00001
NM_003863.4(DPM2):c.*14A>T rs1352343761 0.00001
NM_003863.4(DPM2):c.*529G>A rs926580610 0.00001
NM_003863.4(DPM2):c.107G>A (p.Ser36Asn) rs771463310 0.00001
NM_003863.4(DPM2):c.114T>C (p.His38=) rs1482824230 0.00001
NM_003863.4(DPM2):c.124A>G (p.Lys42Glu) rs370170911 0.00001
NM_003863.4(DPM2):c.127T>C (p.Tyr43His) rs1275174624 0.00001
NM_003863.4(DPM2):c.144C>T (p.Ala48=) rs779110103 0.00001
NM_003863.4(DPM2):c.145T>A (p.Tyr49Asn) rs755055369 0.00001
NM_003863.4(DPM2):c.184C>G (p.Leu62Val) rs766817693 0.00001
NM_003863.4(DPM2):c.197-9_197-8insA rs1314437874 0.00001
NM_003863.4(DPM2):c.208T>G (p.Ser70Ala) rs759597928 0.00001
NM_003863.4(DPM2):c.3+5G>A rs1333396682 0.00001
NM_003863.4(DPM2):c.33C>T (p.Leu11=) rs781596486 0.00001
NM_003863.4(DPM2):c.93+13C>A rs772691262 0.00001
NM_003863.4(DPM2):c.94-8G>T rs773731630 0.00001
NM_004341.5(CAD):c.1352A>G (p.Tyr451Cys) rs770953907 0.00001
NM_004341.5(CAD):c.2492G>A (p.Arg831His) rs779903352 0.00001
NM_004341.5(CAD):c.2995G>A (p.Val999Met) rs1475014505 0.00001
NM_004341.5(CAD):c.4315-1G>A rs1291590169 0.00001
NM_004341.5(CAD):c.4315-3C>T rs867496821 0.00001
NM_004341.5(CAD):c.4564-9C>G rs575379595 0.00001
NM_004341.5(CAD):c.4655C>T (p.Ala1552Val) rs1041556030 0.00001
NM_004341.5(CAD):c.4760T>C (p.Ile1587Thr) rs370372528 0.00001
NM_004341.5(CAD):c.6047G>A (p.Cys2016Tyr) rs768937191 0.00001
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) rs763410987 0.00001
NM_004341.5(CAD):c.625C>G (p.Leu209Val) rs374182358 0.00001
NM_004341.5(CAD):c.6365G>A (p.Arg2122His) rs553324190 0.00001
NM_004341.5(CAD):c.859C>T (p.Arg287Cys) rs753478495 0.00001
NM_004870.4(MPDU1):c.*135C>G rs780090441 0.00001
NM_004870.4(MPDU1):c.*399G>C rs1289297756 0.00001
NM_004870.4(MPDU1):c.103+19C>T rs1320410758 0.00001
NM_004870.4(MPDU1):c.10G>A (p.Glu4Lys) rs772047932 0.00001
NM_004870.4(MPDU1):c.184G>A (p.Val62Met) rs777819415 0.00001
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter) rs555710402 0.00001
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00001
NM_004870.4(MPDU1):c.221T>C (p.Leu74Ser) rs104894589 0.00001
NM_004870.4(MPDU1):c.303-16A>G rs566030367 0.00001
NM_004870.4(MPDU1):c.437C>T (p.Ser146Leu) rs775584076 0.00001
NM_004870.4(MPDU1):c.511del (p.Leu171fs) rs756471132 0.00001
NM_004870.4(MPDU1):c.514C>T (p.Gln172Ter) rs999384296 0.00001
NM_004870.4(MPDU1):c.599G>A (p.Arg200Gln) rs200077070 0.00001
NM_004870.4(MPDU1):c.613A>G (p.Ile205Val) rs1473747780 0.00001
NM_004870.4(MPDU1):c.648C>T (p.Thr216=) rs760109502 0.00001
NM_004870.4(MPDU1):c.724A>C (p.Lys242Gln) rs1029176907 0.00001
NM_004870.4(MPDU1):c.735G>A (p.Lys245=) rs750023688 0.00001
NM_004870.4(MPDU1):c.84T>C (p.Val28=) rs1430454810 0.00001
NM_005216.5(DDOST):c.1096G>A (p.Asp366Asn) rs886045864 0.00001
NM_005216.5(DDOST):c.1098C>T (p.Asp366=) rs777455786 0.00001
NM_005216.5(DDOST):c.10A>G (p.Ser4Gly) rs1166127455 0.00001
NM_005216.5(DDOST):c.1196C>T (p.Thr399Met) rs530990753 0.00001
NM_005216.5(DDOST):c.119G>A (p.Arg40Gln) rs761548809 0.00001
NM_005216.5(DDOST):c.1281C>T (p.Ile427=) rs923235061 0.00001
NM_005216.5(DDOST):c.154G>A (p.Asp52Asn) rs778335267 0.00001
NM_005216.5(DDOST):c.168G>A (p.Glu56=) rs747449468 0.00001
NM_005216.5(DDOST):c.188A>C (p.Asp63Ala) rs2053427789 0.00001
NM_005216.5(DDOST):c.502A>G (p.Thr168Ala) rs372948054 0.00001
NM_005216.5(DDOST):c.597G>A (p.Thr199=) rs755031163 0.00001
NM_005216.5(DDOST):c.645G>C (p.Gln215His) rs867045420 0.00001
NM_005216.5(DDOST):c.646-14C>T rs543407020 0.00001
NM_005216.5(DDOST):c.709C>T (p.Arg237Cys) rs748804145 0.00001
NM_005216.5(DDOST):c.780G>A (p.Ala260=) rs961389384 0.00001
NM_005787.6(ALG3):c.1015G>A (p.Val339Ile) rs1323127252 0.00001
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168 0.00001
NM_005787.6(ALG3):c.1108T>C (p.Tyr370His) rs377073728 0.00001
NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr) rs376927697 0.00001
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273 0.00001
NM_005787.6(ALG3):c.19A>C (p.Lys7Gln) rs775068875 0.00001
NM_005787.6(ALG3):c.223A>G (p.Met75Val) rs961577496 0.00001
NM_005787.6(ALG3):c.240C>T (p.Gly80=) rs756013928 0.00001
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg) rs367679074 0.00001
NM_005787.6(ALG3):c.294T>A (p.Leu98=) rs200538695 0.00001
NM_005787.6(ALG3):c.332T>G (p.Leu111Trp) rs773227426 0.00001
NM_005787.6(ALG3):c.350G>C (p.Arg117Pro) rs370434427 0.00001
NM_005787.6(ALG3):c.395A>G (p.Tyr132Cys) rs1085307981 0.00001
NM_005787.6(ALG3):c.41C>T (p.Ala14Val) rs767695697 0.00001
NM_005787.6(ALG3):c.469A>G (p.Met157Val) rs1404929213 0.00001
NM_005787.6(ALG3):c.521A>G (p.Asn174Ser) rs1719068613 0.00001
NM_005787.6(ALG3):c.605+9C>T rs1177025121 0.00001
NM_005787.6(ALG3):c.611C>T (p.Ala204Val) rs1719034314 0.00001
NM_005787.6(ALG3):c.656T>C (p.Leu219Pro) rs1423328264 0.00001
NM_005787.6(ALG3):c.66G>A (p.Lys22=) rs778269575 0.00001
NM_005787.6(ALG3):c.690G>A (p.Gly230=) rs755828168 0.00001
NM_005787.6(ALG3):c.696C>T (p.Leu232=) rs1174962210 0.00001
NM_005787.6(ALG3):c.72G>A (p.Trp24Ter) rs1023520147 0.00001
NM_005787.6(ALG3):c.863C>T (p.Ala288Val) rs772081381 0.00001
NM_005787.6(ALG3):c.914C>A (p.Ala305Asp) rs373514167 0.00001
NM_005787.6(ALG3):c.953C>T (p.Ser318Leu) rs756802179 0.00001
NM_005787.6(ALG3):c.954G>A (p.Ser318=) rs372494174 0.00001
NM_005787.6(ALG3):c.977G>A (p.Arg326Lys) rs1718953951 0.00001
NM_006280.3(SSR4):c.194C>T (p.Ala65Val) rs781822476 0.00001
NM_006942.2(SOX15):c.*175G>A rs554187980 0.00001
NM_012463.4(ATP6V0A2):c.1038+19C>T rs748475567 0.00001
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val) rs374873455 0.00001
NM_012463.4(ATP6V0A2):c.1099C>G (p.Pro367Ala) rs147833091 0.00001
NM_012463.4(ATP6V0A2):c.1120A>G (p.Lys374Glu) rs201857139 0.00001
NM_012463.4(ATP6V0A2):c.1126A>G (p.Thr376Ala) rs1381866878 0.00001
NM_012463.4(ATP6V0A2):c.1158T>C (p.Tyr386=) rs751710968 0.00001
NM_012463.4(ATP6V0A2):c.1247G>A (p.Gly416Glu) rs770611939 0.00001
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) rs985944979 0.00001
NM_012463.4(ATP6V0A2):c.1351C>T (p.Arg451Trp) rs907470146 0.00001
NM_012463.4(ATP6V0A2):c.1432C>G (p.Leu478Val) rs1193899105 0.00001
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=) rs567406924 0.00001
NM_012463.4(ATP6V0A2):c.1468A>G (p.Ser490Gly) rs761024266 0.00001
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012463.4(ATP6V0A2):c.1605+13C>T rs1031913267 0.00001
NM_012463.4(ATP6V0A2):c.1724+20T>A rs778282853 0.00001
NM_012463.4(ATP6V0A2):c.1822A>G (p.Lys608Glu) rs942181771 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_012463.4(ATP6V0A2):c.18G>A (p.Arg6=) rs1274398806 0.00001
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val) rs374410950 0.00001
NM_012463.4(ATP6V0A2):c.2044G>A (p.Gly682Arg) rs766998428 0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) rs777130500 0.00001
NM_012463.4(ATP6V0A2):c.2293+1G>A rs750984566 0.00001
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992 0.00001
NM_012463.4(ATP6V0A2):c.2335C>G (p.Leu779Val) rs1289485537 0.00001
NM_012463.4(ATP6V0A2):c.2354A>G (p.Tyr785Cys) rs1300082047 0.00001
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=) rs775830030 0.00001
NM_012463.4(ATP6V0A2):c.291G>A (p.Met97Ile) rs1247351393 0.00001
NM_012463.4(ATP6V0A2):c.33C>T (p.Cys11=) rs1485624455 0.00001
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met) rs879082266 0.00001
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile) rs369952560 0.00001
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) rs571403150 0.00001
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=) rs754399086 0.00001
NM_012463.4(ATP6V0A2):c.818T>G (p.Leu273Arg) rs946611542 0.00001
NM_012463.4(ATP6V0A2):c.819C>G (p.Leu273=) rs760832828 0.00001
NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=) rs776563027 0.00001
NM_012463.4(ATP6V0A2):c.887A>G (p.Tyr296Cys) rs753314616 0.00001
NM_012463.4(ATP6V0A2):c.997G>C (p.Ala333Pro) rs773660973 0.00001
NM_013339.4(ALG6):c.*1464A>C rs1316941453 0.00001
NM_013339.4(ALG6):c.*152T>C rs886046473 0.00001
NM_013339.4(ALG6):c.*174A>G rs886046474 0.00001
NM_013339.4(ALG6):c.*436T>C rs550372028 0.00001
NM_013339.4(ALG6):c.1005A>G (p.Ser335=) rs146094200 0.00001
NM_013339.4(ALG6):c.101T>C (p.Met34Thr) rs750689981 0.00001
NM_013339.4(ALG6):c.1029A>G (p.Val343=) rs776279526 0.00001
NM_013339.4(ALG6):c.1059-8G>T rs755900020 0.00001
NM_013339.4(ALG6):c.1092T>C (p.Phe364=) rs751867296 0.00001
NM_013339.4(ALG6):c.1116G>A (p.Val372=) rs774866544 0.00001
NM_013339.4(ALG6):c.1127+12C>A rs539762580 0.00001
NM_013339.4(ALG6):c.1128-11T>C rs760830321 0.00001
NM_013339.4(ALG6):c.1128-18A>T rs1057523181 0.00001
NM_013339.4(ALG6):c.1129A>G (p.Met377Val) rs934616664 0.00001
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser) rs150976885 0.00001
NM_013339.4(ALG6):c.1138C>A (p.Leu380Ile) rs1461862944 0.00001
NM_013339.4(ALG6):c.1173T>G (p.Val391=) rs759859422 0.00001
NM_013339.4(ALG6):c.1204G>A (p.Val402Ile) rs1212756714 0.00001
NM_013339.4(ALG6):c.1275G>A (p.Val425=) rs1455501558 0.00001
NM_013339.4(ALG6):c.1319A>G (p.Gln440Arg) rs1475278999 0.00001
NM_013339.4(ALG6):c.1320A>G (p.Gln440=) rs137918665 0.00001
NM_013339.4(ALG6):c.1326+6T>A rs765364882 0.00001
NM_013339.4(ALG6):c.1327-16C>T rs1479573763 0.00001
NM_013339.4(ALG6):c.1327-4G>A rs1395718435 0.00001
NM_013339.4(ALG6):c.1341C>T (p.Val447=) rs777326636 0.00001
NM_013339.4(ALG6):c.1353G>C (p.Val451=) rs1346474951 0.00001
NM_013339.4(ALG6):c.1365G>A (p.Leu455=) rs772957444 0.00001
NM_013339.4(ALG6):c.1366A>G (p.Met456Val) rs1463890121 0.00001
NM_013339.4(ALG6):c.1399C>T (p.Pro467Ser) rs752244400 0.00001
NM_013339.4(ALG6):c.1400C>T (p.Pro467Leu) rs548994709 0.00001
NM_013339.4(ALG6):c.1401G>A (p.Pro467=) rs149524560 0.00001
NM_013339.4(ALG6):c.1422G>A (p.Val474=) rs1644682242 0.00001
NM_013339.4(ALG6):c.1444T>G (p.Phe482Val) rs1215619833 0.00001
NM_013339.4(ALG6):c.1451T>A (p.Phe484Tyr) rs749363896 0.00001
NM_013339.4(ALG6):c.1456T>G (p.Leu486Val) rs1274029656 0.00001
NM_013339.4(ALG6):c.1509G>A (p.Gln503=) rs368314781 0.00001
NM_013339.4(ALG6):c.150T>C (p.Asn50=) rs752563803 0.00001
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?) rs759636698 0.00001
NM_013339.4(ALG6):c.155C>T (p.Pro52Leu) rs201074540 0.00001
NM_013339.4(ALG6):c.167+8A>G rs902593542 0.00001
NM_013339.4(ALG6):c.168-15T>A rs1213992277 0.00001
NM_013339.4(ALG6):c.208T>C (p.Leu70=) rs748752494 0.00001
NM_013339.4(ALG6):c.213T>C (p.Asp71=) rs1440836116 0.00001
NM_013339.4(ALG6):c.219A>T (p.Pro73=) rs187446493 0.00001
NM_013339.4(ALG6):c.237T>G (p.His79Gln) rs747184607 0.00001
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr) rs762643273 0.00001
NM_013339.4(ALG6):c.258-15T>C rs1427230309 0.00001
NM_013339.4(ALG6):c.258-4G>C rs376611585 0.00001
NM_013339.4(ALG6):c.26T>C (p.Val9Ala) rs1456036206 0.00001
NM_013339.4(ALG6):c.294T>C (p.His98=) rs1644480931 0.00001
NM_013339.4(ALG6):c.2T>C (p.Met1Thr) rs1387214955 0.00001
NM_013339.4(ALG6):c.302G>A (p.Arg101His) rs760245924 0.00001
NM_013339.4(ALG6):c.321A>G (p.Ala107=) rs766050737 0.00001
NM_013339.4(ALG6):c.328C>G (p.Leu110Val) rs753362025 0.00001
NM_013339.4(ALG6):c.342A>C (p.Thr114=) rs113591571 0.00001
NM_013339.4(ALG6):c.347-18A>G rs1388308664 0.00001
NM_013339.4(ALG6):c.366G>C (p.Leu122=) rs1368717618 0.00001
NM_013339.4(ALG6):c.37A>C (p.Ile13Leu) rs1407217511 0.00001
NM_013339.4(ALG6):c.429+1G>T rs781097055 0.00001
NM_013339.4(ALG6):c.429+7T>G rs1179620229 0.00001
NM_013339.4(ALG6):c.430-9T>G rs769256352 0.00001
NM_013339.4(ALG6):c.447C>T (p.Cys149=) rs1251724917 0.00001
NM_013339.4(ALG6):c.470T>G (p.Ile157Ser) rs768049817 0.00001
NM_013339.4(ALG6):c.475A>G (p.Ile159Val) rs531362960 0.00001
NM_013339.4(ALG6):c.476T>C (p.Ile159Thr) rs1037253381 0.00001
NM_013339.4(ALG6):c.480C>T (p.Asp160=) rs1368642972 0.00001
NM_013339.4(ALG6):c.483T>C (p.Tyr161=) rs1275254106 0.00001
NM_013339.4(ALG6):c.494+15T>C rs777671830 0.00001
NM_013339.4(ALG6):c.495-14T>G rs1434021697 0.00001
NM_013339.4(ALG6):c.495-2A>G rs1227131990 0.00001
NM_013339.4(ALG6):c.510del (p.Gly172fs) rs773277552 0.00001
NM_013339.4(ALG6):c.529G>A (p.Gly177Ser) rs1250215676 0.00001
NM_013339.4(ALG6):c.574G>A (p.Ala192Thr) rs878890161 0.00001
NM_013339.4(ALG6):c.591A>G (p.Ile197Met) rs753024606 0.00001
NM_013339.4(ALG6):c.630T>C (p.Phe210=) rs1231951186 0.00001
NM_013339.4(ALG6):c.648C>G (p.Gly216=) rs1270440540 0.00001
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg) rs140879997 0.00001
NM_013339.4(ALG6):c.680+14A>T rs531280238 0.00001
NM_013339.4(ALG6):c.680+1G>A rs1253289234 0.00001
NM_013339.4(ALG6):c.680+2T>G rs868768232 0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206 0.00001
NM_013339.4(ALG6):c.681-8T>G rs754415021 0.00001
NM_013339.4(ALG6):c.693A>G (p.Leu231=) rs777520437 0.00001
NM_013339.4(ALG6):c.735C>T (p.Cys245=) rs1193951173 0.00001
NM_013339.4(ALG6):c.795G>A (p.Pro265=) rs144939122 0.00001
NM_013339.4(ALG6):c.798T>G (p.Val266=) rs1644519075 0.00001
NM_013339.4(ALG6):c.816+4T>C rs762931650 0.00001
NM_013339.4(ALG6):c.828C>G (p.Ala276=) rs1325407009 0.00001
NM_013339.4(ALG6):c.862A>G (p.Ile288Val) rs557790186 0.00001
NM_013339.4(ALG6):c.886A>G (p.Ile296Val) rs1450720827 0.00001
NM_013339.4(ALG6):c.891A>G (p.Gln297=) rs759310974 0.00001
NM_013339.4(ALG6):c.902+15G>A rs1335275470 0.00001
NM_013339.4(ALG6):c.90T>C (p.Gly30=) rs768726497 0.00001
NM_013339.4(ALG6):c.914C>T (p.Thr305Met) rs546145736 0.00001
NM_013339.4(ALG6):c.925C>T (p.Leu309=) rs1311428677 0.00001
NM_013339.4(ALG6):c.987+12A>G rs758406155 0.00001
NM_013339.4(ALG6):c.997G>C (p.Ala333Pro) rs1212125571 0.00001
NM_014908.3(DOLK):c.-335G>C rs543331952 0.00001
NM_014908.3(DOLK):c.-394A>G rs750538185 0.00001
NM_014908.4(DOLK):c.-149G>A rs886063515 0.00001
NM_014908.4(DOLK):c.1010G>A (p.Arg337Gln) rs759025031 0.00001
NM_014908.4(DOLK):c.1065C>G (p.Asp355Glu) rs371882757 0.00001
NM_014908.4(DOLK):c.1068G>A (p.Arg356=) rs371490482 0.00001
NM_014908.4(DOLK):c.1092T>G (p.Thr364=) rs1280785615 0.00001
NM_014908.4(DOLK):c.1098C>T (p.Cys366=) rs1588262054 0.00001
NM_014908.4(DOLK):c.1107C>T (p.Val369=) rs759148554 0.00001
NM_014908.4(DOLK):c.1129C>T (p.Arg377Cys) rs868232833 0.00001
NM_014908.4(DOLK):c.1143C>T (p.Ile381=) rs750733060 0.00001
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala) rs747285047 0.00001
NM_014908.4(DOLK):c.1167G>C (p.Arg389=) rs1475563721 0.00001
NM_014908.4(DOLK):c.1176G>A (p.Leu392=) rs1229430506 0.00001
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe) rs982668501 0.00001
NM_014908.4(DOLK):c.1190A>G (p.Asp397Gly) rs753795845 0.00001
NM_014908.4(DOLK):c.1196G>A (p.Arg399Gln) rs748688866 0.00001
NM_014908.4(DOLK):c.1249C>T (p.Leu417Phe) rs771007659 0.00001
NM_014908.4(DOLK):c.128C>T (p.Ser43Leu) rs1352546858 0.00001
NM_014908.4(DOLK):c.1303G>C (p.Ala435Pro) rs1306365829 0.00001
NM_014908.4(DOLK):c.1312C>T (p.Leu438Phe) rs112448460 0.00001
NM_014908.4(DOLK):c.1357G>C (p.Val453Leu) rs1294479059 0.00001
NM_014908.4(DOLK):c.1372G>A (p.Gly458Ser) rs748468540 0.00001
NM_014908.4(DOLK):c.1373G>T (p.Gly458Val) rs999023298 0.00001
NM_014908.4(DOLK):c.1413G>C (p.Lys471Asn) rs1336940137 0.00001
NM_014908.4(DOLK):c.1419T>G (p.Phe473Leu) rs780799327 0.00001
NM_014908.4(DOLK):c.1434A>G (p.Thr478=) rs536315251 0.00001
NM_014908.4(DOLK):c.1445C>T (p.Ala482Val) rs767693634 0.00001
NM_014908.4(DOLK):c.1467G>T (p.Leu489=) rs955285603 0.00001
NM_014908.4(DOLK):c.1535C>T (p.Thr512Ile) rs1166313359 0.00001
NM_014908.4(DOLK):c.1541C>G (p.Ser514Cys) rs537893599 0.00001
NM_014908.4(DOLK):c.1579C>T (p.Leu527Phe) rs1841648949 0.00001
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe) rs140350881 0.00001
NM_014908.4(DOLK):c.172T>G (p.Tyr58Asp) rs1403792413 0.00001
NM_014908.4(DOLK):c.175A>G (p.Lys59Glu) rs771383826 0.00001
NM_014908.4(DOLK):c.184C>A (p.Arg62=) rs533764998 0.00001
NM_014908.4(DOLK):c.187C>G (p.Leu63Val) rs1385561774 0.00001
NM_014908.4(DOLK):c.194A>G (p.Gln65Arg) rs754744977 0.00001
NM_014908.4(DOLK):c.203G>T (p.Ser68Ile) rs753603168 0.00001
NM_014908.4(DOLK):c.216G>T (p.Gln72His) rs767180137 0.00001
NM_014908.4(DOLK):c.24G>A (p.Pro8=) rs746403097 0.00001
NM_014908.4(DOLK):c.266C>T (p.Pro89Leu) rs1310123344 0.00001
NM_014908.4(DOLK):c.288G>A (p.Lys96=) rs771259120 0.00001
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp) rs747555089 0.00001
NM_014908.4(DOLK):c.374del (p.Ser125fs) rs1156844272 0.00001
NM_014908.4(DOLK):c.401G>A (p.Arg134His) rs768596252 0.00001
NM_014908.4(DOLK):c.432G>C (p.Leu144Phe) rs780422418 0.00001
NM_014908.4(DOLK):c.448G>T (p.Val150Phe) rs900642092 0.00001
NM_014908.4(DOLK):c.453C>T (p.Ile151=) rs1249767230 0.00001
NM_014908.4(DOLK):c.463A>T (p.Met155Leu) rs1218829181 0.00001
NM_014908.4(DOLK):c.472T>A (p.Ser158Thr) rs1246967572 0.00001
NM_014908.4(DOLK):c.489G>T (p.Glu163Asp) rs1329633231 0.00001
NM_014908.4(DOLK):c.48G>C (p.Leu16=) rs1841690217 0.00001
NM_014908.4(DOLK):c.493A>G (p.Ile165Val) rs762432181 0.00001
NM_014908.4(DOLK):c.501C>T (p.Val167=) rs372024402 0.00001
NM_014908.4(DOLK):c.513T>C (p.Leu171=) rs886063514 0.00001
NM_014908.4(DOLK):c.523G>A (p.Val175Ile) rs145177598 0.00001
NM_014908.4(DOLK):c.534C>A (p.Asn178Lys) rs1201588280 0.00001
NM_014908.4(DOLK):c.560G>T (p.Arg187Leu) rs377658203 0.00001
NM_014908.4(DOLK):c.581C>T (p.Ala194Val) rs763132281 0.00001
NM_014908.4(DOLK):c.603T>G (p.Ile201Met) rs765382712 0.00001
NM_014908.4(DOLK):c.679C>T (p.Leu227=) rs751806411 0.00001
NM_014908.4(DOLK):c.703G>A (p.Val235Ile) rs759019995 0.00001
NM_014908.4(DOLK):c.710T>C (p.Met237Thr) rs201363976 0.00001
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser) rs765475110 0.00001
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn) rs876657786 0.00001
NM_014908.4(DOLK):c.73G>A (p.Ala25Thr) rs764980710 0.00001
NM_014908.4(DOLK):c.767C>T (p.Ser256Phe) rs1186154711 0.00001
NM_014908.4(DOLK):c.843G>A (p.Arg281=) rs1430371382 0.00001
NM_014908.4(DOLK):c.86C>T (p.Ala29Val) rs1401208309 0.00001
NM_014908.4(DOLK):c.888C>G (p.Thr296=) rs1841669182 0.00001
NM_014908.4(DOLK):c.894C>T (p.Ile298=) rs554098531 0.00001
NM_014908.4(DOLK):c.906C>T (p.Ala302=) rs745571625 0.00001
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys) rs780974264 0.00001
NM_014908.4(DOLK):c.909T>C (p.Tyr303=) rs1244007975 0.00001
NM_014908.4(DOLK):c.90G>A (p.Val30=) rs766960135 0.00001
NM_014908.4(DOLK):c.910T>C (p.Trp304Arg) rs1413752276 0.00001
NM_014908.4(DOLK):c.916C>T (p.Leu306=) rs1290357070 0.00001
NM_014908.4(DOLK):c.94C>T (p.Leu32=) rs760999273 0.00001
NM_014908.4(DOLK):c.964C>T (p.Arg322Trp) rs1350623268 0.00001
NM_014908.4(DOLK):c.967T>C (p.Ser323Pro) rs750702584 0.00001
NM_014908.4(DOLK):c.999C>T (p.Pro333=) rs764117689 0.00001
NM_019109.5(ALG1):c.1023C>T (p.Ile341=) rs1254998724 0.00001
NM_019109.5(ALG1):c.1029C>G (p.Val343=) rs1454696330 0.00001
NM_019109.5(ALG1):c.1032C>T (p.Cys344=) rs745523769 0.00001
NM_019109.5(ALG1):c.1060C>T (p.Pro354Ser) rs983547319 0.00001
NM_019109.5(ALG1):c.1072+14A>G rs1320606156 0.00001
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_019109.5(ALG1):c.1084C>T (p.Leu362=) rs1366814290 0.00001
NM_019109.5(ALG1):c.1101C>T (p.His367=) rs1428414601 0.00001
NM_019109.5(ALG1):c.1103C>T (p.Thr368Met) rs762385611 0.00001
NM_019109.5(ALG1):c.1104G>A (p.Thr368=) rs1315375927 0.00001
NM_019109.5(ALG1):c.1129A>G (p.Met377Val) rs387906925 0.00001
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile) rs778368053 0.00001
NM_019109.5(ALG1):c.1185G>C (p.Lys395Asn) rs1308517122 0.00001
NM_019109.5(ALG1):c.1263+8C>T rs1442144835 0.00001
NM_019109.5(ALG1):c.126C>T (p.Asp42=) rs1203067807 0.00001
NM_019109.5(ALG1):c.1282C>A (p.Pro428Thr) rs1413293071 0.00001
NM_019109.5(ALG1):c.1293G>A (p.Ala431=) rs1047714 0.00001
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp) rs16835020 0.00001
NM_019109.5(ALG1):c.1316A>G (p.Lys439Arg) rs1281758881 0.00001
NM_019109.5(ALG1):c.1360G>A (p.Val454Met) rs1957095896 0.00001
NM_019109.5(ALG1):c.1374C>T (p.Leu458=) rs776869363 0.00001
NM_019109.5(ALG1):c.138C>T (p.Ser46=) rs148665912 0.00001
NM_019109.5(ALG1):c.142C>T rs1051082443 0.00001
NM_019109.5(ALG1):c.159G>C (p.Ala53=) rs776772780 0.00001
NM_019109.5(ALG1):c.201G>A (p.Gly67=) rs1377122958 0.00001
NM_019109.5(ALG1):c.203T>A (p.Phe68Tyr) rs1314923558 0.00001
NM_019109.5(ALG1):c.208+13G>A rs794726945 0.00001
NM_019109.5(ALG1):c.219C>G (p.Pro73=) rs776610922 0.00001
NM_019109.5(ALG1):c.22C>T (p.Leu8=) rs144712188 0.00001
NM_019109.5(ALG1):c.259G>C (p.Gly87Arg) rs187287792 0.00001
NM_019109.5(ALG1):c.262T>G (p.Leu88Val) rs794727301 0.00001
NM_019109.5(ALG1):c.287T>C (p.Val96Ala) rs534863399 0.00001
NM_019109.5(ALG1):c.295C>T (p.Arg99Ter) rs750451819 0.00001
NM_019109.5(ALG1):c.296G>A (p.Arg99Gln) rs1349600746 0.00001
NM_019109.5(ALG1):c.342G>A (p.Leu114=) rs1596252196 0.00001
NM_019109.5(ALG1):c.377A>G (p.Tyr126Cys) rs200094659 0.00001
NM_019109.5(ALG1):c.391-13C>G rs768190163 0.00001
NM_019109.5(ALG1):c.399A>C (p.Pro133=) rs200506666 0.00001
NM_019109.5(ALG1):c.443G>T (p.Cys148Phe) rs767756401 0.00001
NM_019109.5(ALG1):c.450C>G (p.Ser150Arg) rs121908340 0.00001
NM_019109.5(ALG1):c.516T>G (p.His172Gln) rs1310088513 0.00001
NM_019109.5(ALG1):c.540-15G>C rs1234821941 0.00001
NM_019109.5(ALG1):c.540-7T>G rs1475479052 0.00001
NM_019109.5(ALG1):c.543C>T (p.Tyr181=) rs375670899 0.00001
NM_019109.5(ALG1):c.575A>G (p.Asn192Ser) rs760563077 0.00001
NM_019109.5(ALG1):c.590A>G (p.Asn197Ser) rs780593921 0.00001
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter) rs1474783444 0.00001
NM_019109.5(ALG1):c.599G>A (p.Arg200Gln) rs199674071 0.00001
NM_019109.5(ALG1):c.621G>A (p.Trp207Ter) rs1956935335 0.00001
NM_019109.5(ALG1):c.630-10T>A rs774092984 0.00001
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser) rs528261173 0.00001
NM_019109.5(ALG1):c.70A>G (p.Lys24Glu) rs1386626500 0.00001
NM_019109.5(ALG1):c.729G>T (p.Pro243=) rs539568048 0.00001
NM_019109.5(ALG1):c.741-17T>C rs757946127 0.00001
NM_019109.5(ALG1):c.748C>T (p.Pro250Ser) rs1263087642 0.00001
NM_019109.5(ALG1):c.75C>G (p.Arg25=) rs369610043 0.00001
NM_019109.5(ALG1):c.765G>A (p.Thr255=) rs763065965 0.00001
NM_019109.5(ALG1):c.782C>T (p.Thr261Met) rs534622519 0.00001
NM_019109.5(ALG1):c.823G>T (p.Glu275Ter) rs1372794201 0.00001
NM_019109.5(ALG1):c.863-14T>C rs780024263 0.00001
NM_019109.5(ALG1):c.863-2A>G rs768733117 0.00001
NM_019109.5(ALG1):c.866A>G (p.Asp289Gly) rs1180515976 0.00001
NM_019109.5(ALG1):c.886C>T (p.Leu296=) rs760271727 0.00001
NM_019109.5(ALG1):c.899A>G (p.Glu300Gly) rs1234795312 0.00001
NM_019109.5(ALG1):c.901+1G>A rs1227251669 0.00001
NM_019109.5(ALG1):c.902-12T>A rs781282806 0.00001
NM_019109.5(ALG1):c.961+6G>T rs1304012856 0.00001
NM_019109.5(ALG1):c.962-20G>A rs748104106 0.00001
NM_019109.5(ALG1):c.978G>A (p.Arg326=) rs746218352 0.00001
NM_021645.6(UTP14C):c.276C>T (p.Pro92=) rs144836764 0.00001
NM_021645.6(UTP14C):c.575A>G (p.His192Arg) rs978706850 0.00001
NM_021645.6(UTP14C):c.63G>T (p.Leu21Phe) rs775998263 0.00001
NM_024079.5(ALG8):c.1256C>T (p.Pro419Leu) rs1859926872 0.00001
NM_024079.5(ALG8):c.1276+10G>A rs531081999 0.00001
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys) rs777557874 0.00001
NM_024079.5(ALG8):c.1491G>A (p.Val497=) rs766871884 0.00001
NM_024079.5(ALG8):c.1556C>T (p.Ala519Val) rs990677542 0.00001
NM_024079.5(ALG8):c.1578A>G (p.Gln526=) rs479612 0.00001
NM_024079.5(ALG8):c.32G>C (p.Gly11Ala) rs538716086 0.00001
NM_024079.5(ALG8):c.346C>T (p.Leu116Phe) rs1401833410 0.00001
NM_024079.5(ALG8):c.368+2T>G rs756894409 0.00001
NM_024079.5(ALG8):c.36T>C (p.Asn12=) rs1179361051 0.00001
NM_024079.5(ALG8):c.382A>G (p.Ile128Val) rs111831728 0.00001
NM_024079.5(ALG8):c.439G>T (p.Val147Leu) rs748027702 0.00001
NM_024079.5(ALG8):c.479-3C>G rs753257659 0.00001
NM_024079.5(ALG8):c.546+12T>G rs1169043575 0.00001
NM_024079.5(ALG8):c.623C>T (p.Ala208Val) rs886048688 0.00001
NM_024079.5(ALG8):c.678G>T (p.Gly226=) rs754476593 0.00001
NM_024079.5(ALG8):c.802C>T (p.Arg268Ter) rs772492143 0.00001
NM_024079.5(ALG8):c.86T>C (p.Ile29Thr) rs1276719307 0.00001
NM_024079.5(ALG8):c.95+1G>A rs1323512637 0.00001
NM_024079.5(ALG8):c.981dup (p.Val328fs) rs777686455 0.00001
NM_024105.4(ALG12):c.*354G>A rs769523769 0.00001
NM_024105.4(ALG12):c.-79+3C>T rs886057616 0.00001
NM_024105.4(ALG12):c.1043T>G (p.Val348Gly) rs747813537 0.00001
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg) rs377095724 0.00001
NM_024105.4(ALG12):c.1120G>A (p.Val374Ile) rs761515996 0.00001
NM_024105.4(ALG12):c.117G>A (p.Leu39=) rs371814322 0.00001
NM_024105.4(ALG12):c.117del (p.Gln40fs) rs761221480 0.00001
NM_024105.4(ALG12):c.1182C>T (p.Asp394=) rs766969187 0.00001
NM_024105.4(ALG12):c.1224C>A (p.Val408=) rs146341718 0.00001
NM_024105.4(ALG12):c.1230C>T (p.Ser410=) rs779189579 0.00001
NM_024105.4(ALG12):c.1246_1247del (p.Lys416fs) rs746988876 0.00001
NM_024105.4(ALG12):c.1265C>T (p.Pro422Leu) rs759794733 0.00001
NM_024105.4(ALG12):c.1320C>G (p.Leu440=) rs2060528558 0.00001
NM_024105.4(ALG12):c.1339A>G (p.Thr447Ala) rs996114708 0.00001
NM_024105.4(ALG12):c.1359C>T (p.Ser453=) rs762256657 0.00001
NM_024105.4(ALG12):c.1389C>A (p.Asn463Lys) rs745510179 0.00001
NM_024105.4(ALG12):c.1390C>T (p.Leu464=) rs546031490 0.00001
NM_024105.4(ALG12):c.1411A>G (p.Asn471Asp) rs2060527901 0.00001
NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp) rs1569172835 0.00001
NM_024105.4(ALG12):c.1449G>A (p.Arg483=) rs886057613 0.00001
NM_024105.4(ALG12):c.1460C>T (p.Pro487Leu) rs778688714 0.00001
NM_024105.4(ALG12):c.162+16T>G rs200452706 0.00001
NM_024105.4(ALG12):c.162+19C>T rs777484585 0.00001
NM_024105.4(ALG12):c.163-16G>C rs2060592313 0.00001
NM_024105.4(ALG12):c.223G>A (p.Ala75Thr) rs761301009 0.00001
NM_024105.4(ALG12):c.258G>A (p.Ser86=) rs141223868 0.00001
NM_024105.4(ALG12):c.296-15A>G rs749576773 0.00001
NM_024105.4(ALG12):c.296-19T>G rs757545642 0.00001
NM_024105.4(ALG12):c.301G>A (p.Gly101Arg) rs121907933 0.00001
NM_024105.4(ALG12):c.327T>G (p.Phe109Leu) rs886057614 0.00001
NM_024105.4(ALG12):c.333C>T (p.Leu111=) rs776257312 0.00001
NM_024105.4(ALG12):c.339G>A (p.Thr113=) rs768442865 0.00001
NM_024105.4(ALG12):c.366C>T (p.Phe122=) rs1015611771 0.00001
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg) rs1555930118 0.00001
NM_024105.4(ALG12):c.377T>G (p.Val126Gly) rs556496917 0.00001
NM_024105.4(ALG12):c.390C>G (p.Phe130Leu) rs1010347575 0.00001
NM_024105.4(ALG12):c.415C>T (p.His139Tyr) rs200490756 0.00001
NM_024105.4(ALG12):c.449A>G (p.Asn150Ser) rs2060570009 0.00001
NM_024105.4(ALG12):c.469+18G>A rs767540166 0.00001
NM_024105.4(ALG12):c.476T>G (p.Leu159Arg) rs1410146441 0.00001
NM_024105.4(ALG12):c.508G>A (p.Ala170Thr) rs751491422 0.00001
NM_024105.4(ALG12):c.537C>T (p.Ala179=) rs1015991179 0.00001
NM_024105.4(ALG12):c.550A>G (p.Arg184Gly) rs1569176254 0.00001
NM_024105.4(ALG12):c.576C>T (p.Gly192=) rs763437728 0.00001
NM_024105.4(ALG12):c.622A>T (p.Arg208Ter) rs1464756874 0.00001
NM_024105.4(ALG12):c.644C>T (p.Pro215Leu) rs777173365 0.00001
NM_024105.4(ALG12):c.690T>C (p.Tyr230=) rs750524007 0.00001
NM_024105.4(ALG12):c.713C>T (p.Pro238Leu) rs1339045983 0.00001
NM_024105.4(ALG12):c.768+1G>A rs188399257 0.00001
NM_024105.4(ALG12):c.863C>T (p.Thr288Met) rs748227291 0.00001
NM_024105.4(ALG12):c.872C>T (p.Pro291Leu) rs778608834 0.00001
NM_024105.4(ALG12):c.873G>A (p.Pro291=) rs200080075 0.00001
NM_024105.4(ALG12):c.887T>C (p.Leu296Pro) rs774052738 0.00001
NM_024105.4(ALG12):c.909C>T (p.Ser303=) rs768723868 0.00001
NM_024105.4(ALG12):c.933C>T (p.Arg311=) rs779215527 0.00001
NM_024105.4(ALG12):c.944A>G (p.Tyr315Cys) rs372655623 0.00001
NM_024105.4(ALG12):c.951C>T (p.Phe317=) rs1480401201 0.00001
NM_024105.4(ALG12):c.959T>C (p.Leu320Pro) rs1200180536 0.00001
NM_024105.4(ALG12):c.968C>T (p.Thr323Met) rs754936149 0.00001
NM_024105.4(ALG12):c.983G>A (p.Cys328Tyr) rs1371150654 0.00001
NM_024592.5(SRD5A3):c.*1935C>T rs886059476 0.00001
NM_024592.5(SRD5A3):c.*2134G>A rs886059478 0.00001
NM_024592.5(SRD5A3):c.*2227G>A rs886059480 0.00001
NM_024592.5(SRD5A3):c.*2637T>G rs1369824859 0.00001
NM_024592.5(SRD5A3):c.*873A>G rs1449473949 0.00001
NM_024592.5(SRD5A3):c.-30C>A rs886059471 0.00001
NM_024592.5(SRD5A3):c.169T>C (p.Cys57Arg) rs530006860 0.00001
NM_024592.5(SRD5A3):c.221+10C>T rs777676728 0.00001
NM_024592.5(SRD5A3):c.263G>T (p.Gly88Val) rs893706862 0.00001
NM_024592.5(SRD5A3):c.480C>T (p.Val160=) rs797046008 0.00001
NM_024592.5(SRD5A3):c.497G>A (p.Gly166Glu) rs879845715 0.00001
NM_024592.5(SRD5A3):c.50C>T (p.Ala17Val) rs1175656094 0.00001
NM_024592.5(SRD5A3):c.517G>A (p.Val173Ile) rs758023141 0.00001
NM_024592.5(SRD5A3):c.562+3del rs752307253 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836 0.00001
NM_024592.5(SRD5A3):c.695C>A (p.Ala232Glu) rs768516153 0.00001
NM_024592.5(SRD5A3):c.821A>G (p.Asn274Ser) rs569181314 0.00001
NM_024592.5(SRD5A3):c.837A>G (p.Leu279=) rs771882471 0.00001
NM_024740.2(ALG9):c.*2342G>A rs532591210 0.00001
NM_024740.2(ALG9):c.*3079C>T rs886047660 0.00001
NM_024740.2(ALG9):c.*3125A>T rs547384257 0.00001
NM_024740.2(ALG9):c.*3212C>T rs528920657 0.00001
NM_024740.2(ALG9):c.*365A>G rs886047682 0.00001
NM_024740.2(ALG9):c.*726C>G rs1414677485 0.00001
NM_024740.2(ALG9):c.*77G>A rs984910253 0.00001
NM_024740.2(ALG9):c.*788A>G rs559698025 0.00001
NM_024740.2(ALG9):c.1134T>A (p.Leu378=) rs1375163899 0.00001
NM_024740.2(ALG9):c.1149C>T (p.Gly383=) rs1057521573 0.00001
NM_024740.2(ALG9):c.1166C>T (p.Ala389Val) rs1555122792 0.00001
NM_024740.2(ALG9):c.1251G>A (p.Ser417=) rs782372397 0.00001
NM_024740.2(ALG9):c.132-14T>G rs782251612 0.00001
NM_024740.2(ALG9):c.132-15T>G rs782361758 0.00001
NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter) rs782775735 0.00001
NM_024740.2(ALG9):c.1384A>G (p.Ile462Val) rs782350313 0.00001
NM_024740.2(ALG9):c.1392T>A (p.Thr464=) rs1461283997 0.00001
NM_024740.2(ALG9):c.1502T>A (p.Phe501Tyr) rs541537158 0.00001
NM_024740.2(ALG9):c.326A>G (p.Tyr109Cys) rs782251524 0.00001
NM_024740.2(ALG9):c.535C>T (p.Leu179Phe) rs782147690 0.00001
NM_024740.2(ALG9):c.53G>A (p.Gly18Glu) rs1555158997 0.00001
NM_024740.2(ALG9):c.566-1G>A rs782379446 0.00001
NM_024740.2(ALG9):c.879T>G (p.His293Gln) rs1285072714 0.00001
NM_033087.4(ALG2):c.1020A>G (p.Pro340=) rs762693196 0.00001
NM_033087.4(ALG2):c.1037C>T (p.Ser346Leu) rs544811110 0.00001
NM_033087.4(ALG2):c.1051G>C (p.Glu351Gln) rs1828726794 0.00001
NM_033087.4(ALG2):c.1078T>C (p.Phe360Leu) rs1828725925 0.00001
NM_033087.4(ALG2):c.107C>T (p.Ala36Val) rs567637718 0.00001
NM_033087.4(ALG2):c.1095C>G (p.Asp365Glu) rs754159662 0.00001
NM_033087.4(ALG2):c.1098G>A (p.Pro366=) rs562373747 0.00001
NM_033087.4(ALG2):c.1115C>T (p.Ala372Val) rs762887574 0.00001
NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly) rs963221673 0.00001
NM_033087.4(ALG2):c.117G>A (p.Ala39=) rs1353112014 0.00001
NM_033087.4(ALG2):c.1239A>C (p.Lys413Asn) rs1475354932 0.00001
NM_033087.4(ALG2):c.1246G>C (p.Val416Leu) rs749613639 0.00001
NM_033087.4(ALG2):c.12G>A (p.Glu4=) rs1036766977 0.00001
NM_033087.4(ALG2):c.168G>A (p.Pro56=) rs1225254115 0.00001
NM_033087.4(ALG2):c.183C>T (p.Ala61=) rs755793459 0.00001
NM_033087.4(ALG2):c.192C>T (p.Arg64=) rs367616427 0.00001
NM_033087.4(ALG2):c.198A>G (p.Leu66=) rs374316187 0.00001
NM_033087.4(ALG2):c.202G>A (p.Val68Met) rs770103603 0.00001
NM_033087.4(ALG2):c.219C>G (p.Asp73Glu) rs755705607 0.00001
NM_033087.4(ALG2):c.268G>T (p.Ala90Ser) rs941593352 0.00001
NM_033087.4(ALG2):c.272A>C (p.Tyr91Ser) rs910168958 0.00001
NM_033087.4(ALG2):c.296T>C (p.Leu99Pro) rs770722154 0.00001
NM_033087.4(ALG2):c.29_31del (p.Asp10_Ser11delinsAla) rs762654045 0.00001
NM_033087.4(ALG2):c.303G>A (p.Val101=) rs371910648 0.00001
NM_033087.4(ALG2):c.304C>T (p.Leu102=) rs749236548 0.00001
NM_033087.4(ALG2):c.30del (p.Ser11fs) rs763575022 0.00001
NM_033087.4(ALG2):c.33G>A (p.Ser11=) rs775776287 0.00001
NM_033087.4(ALG2):c.375G>A (p.Arg125=) rs1270655898 0.00001
NM_033087.4(ALG2):c.386G>A (p.Arg129Gln) rs1025210566 0.00001
NM_033087.4(ALG2):c.39C>G (p.Pro13=) rs746087117 0.00001
NM_033087.4(ALG2):c.402A>G (p.Leu134=) rs772364404 0.00001
NM_033087.4(ALG2):c.434C>T (p.Thr145Ile) rs752746581 0.00001
NM_033087.4(ALG2):c.473C>T (p.Pro158Leu) rs746092484 0.00001
NM_033087.4(ALG2):c.489G>C (p.Glu163Asp) rs1486842886 0.00001
NM_033087.4(ALG2):c.48G>C (p.Ser16=) rs199752563 0.00001
NM_033087.4(ALG2):c.571C>T (p.Leu191=) rs1828740241 0.00001
NM_033087.4(ALG2):c.572T>C (p.Leu191Pro) rs759789517 0.00001
NM_033087.4(ALG2):c.617C>T (p.Thr206Ile) rs1166295828 0.00001
NM_033087.4(ALG2):c.619A>G (p.Ser207Gly) rs745514949 0.00001
NM_033087.4(ALG2):c.629C>G (p.Ser210Ter) rs139547697 0.00001
NM_033087.4(ALG2):c.663C>T (p.Pro221=) rs201126562 0.00001
NM_033087.4(ALG2):c.690C>T (p.Ser230=) rs368526201 0.00001
NM_033087.4(ALG2):c.699A>G (p.Arg233=) rs746932585 0.00001
NM_033087.4(ALG2):c.702C>T (p.Tyr234=) rs370457158 0.00001
NM_033087.4(ALG2):c.703G>A (p.Glu235Lys) rs189167741 0.00001
NM_033087.4(ALG2):c.70C>T (p.Leu24=) rs143683491 0.00001
NM_033087.4(ALG2):c.764C>T (p.Thr255Ile) rs766853240 0.00001
NM_033087.4(ALG2):c.76G>A (p.Val26Met) rs1280699944 0.00001
NM_033087.4(ALG2):c.85G>C (p.Ala29Pro) rs202053471 0.00001
NM_033087.4(ALG2):c.894C>G (p.Thr298=) rs758885892 0.00001
NM_033087.4(ALG2):c.936C>T (p.Leu312=) rs753807667 0.00001
NM_033087.4(ALG2):c.947C>T (p.Thr316Met) rs764242401 0.00001
NM_052859.4(RFT1):c.*1900C>T rs202235284 0.00001
NM_052859.4(RFT1):c.*240T>C rs534506262 0.00001
NM_052859.4(RFT1):c.*3348A>G rs1383425042 0.00001
NM_052859.4(RFT1):c.*968A>G rs1159558402 0.00001
NM_052859.4(RFT1):c.1074C>T (p.Tyr358=) rs762817759 0.00001
NM_052859.4(RFT1):c.1095A>G (p.Ser365=) rs759269012 0.00001
NM_052859.4(RFT1):c.1100C>A (p.Ser367Tyr) rs991499046 0.00001
NM_052859.4(RFT1):c.1102G>A (p.Gly368Ser) rs483352764 0.00001
NM_052859.4(RFT1):c.1169G>A (p.Cys390Tyr) rs758102329 0.00001
NM_052859.4(RFT1):c.1183G>A (p.Ala395Thr) rs765115802 0.00001
NM_052859.4(RFT1):c.1203C>T (p.Val401=) rs555227282 0.00001
NM_052859.4(RFT1):c.1204G>A (p.Asp402Asn) rs760448271 0.00001
NM_052859.4(RFT1):c.1208+19A>G rs542117380 0.00001
NM_052859.4(RFT1):c.1208+20C>T rs1701244022 0.00001
NM_052859.4(RFT1):c.1209-4C>T rs1475575801 0.00001
NM_052859.4(RFT1):c.1269C>G (p.Thr423=) rs1271059666 0.00001
NM_052859.4(RFT1):c.1284C>T (p.Ser428=) rs773206764 0.00001
NM_052859.4(RFT1):c.1315A>G (p.Met439Val) rs754783004 0.00001
NM_052859.4(RFT1):c.132T>C (p.Val44=) rs1218035102 0.00001
NM_052859.4(RFT1):c.1355G>A (p.Arg452His) rs372822382 0.00001
NM_052859.4(RFT1):c.1358A>G (p.Tyr453Cys) rs761109723 0.00001
NM_052859.4(RFT1):c.1376A>G (p.His459Arg) rs144531852 0.00001
NM_052859.4(RFT1):c.1377C>T (p.His459=) rs1406468804 0.00001
NM_052859.4(RFT1):c.1384C>T (p.Leu462=) rs1701022192 0.00001
NM_052859.4(RFT1):c.1391G>A (p.Gly464Asp) rs1191825046 0.00001
NM_052859.4(RFT1):c.1407A>G (p.Pro469=) rs750985409 0.00001
NM_052859.4(RFT1):c.1417G>A (p.Gly473Arg) rs754212502 0.00001
NM_052859.4(RFT1):c.1454C>T (p.Ser485Leu) rs377516481 0.00001
NM_052859.4(RFT1):c.149+13G>A rs866873760 0.00001
NM_052859.4(RFT1):c.149+5G>A rs775590840 0.00001
NM_052859.4(RFT1):c.1540G>A (p.Gly514Arg) rs927269749 0.00001
NM_052859.4(RFT1):c.155C>T (p.Thr52Met) rs764531159 0.00001
NM_052859.4(RFT1):c.156G>A (p.Thr52=) rs775437985 0.00001
NM_052859.4(RFT1):c.201C>T (p.Arg67=) rs954135080 0.00001
NM_052859.4(RFT1):c.266+16G>T rs1275153388 0.00001
NM_052859.4(RFT1):c.271C>T (p.Pro91Ser) rs147915986 0.00001
NM_052859.4(RFT1):c.326A>C (p.Glu109Ala) rs1384861869 0.00001
NM_052859.4(RFT1):c.386C>T (p.Ser129Leu) rs754395993 0.00001
NM_052859.4(RFT1):c.492C>T (p.Ser164=) rs767438719 0.00001
NM_052859.4(RFT1):c.493G>A (p.Val165Ile) rs571575323 0.00001
NM_052859.4(RFT1):c.496C>T (p.Leu166=) rs751774742 0.00001
NM_052859.4(RFT1):c.516G>A (p.Leu172=) rs1290755219 0.00001
NM_052859.4(RFT1):c.541A>G (p.Ile181Val) rs771804132 0.00001
NM_052859.4(RFT1):c.555C>T (p.Ala185=) rs1183969513 0.00001
NM_052859.4(RFT1):c.558+6A>T rs886058726 0.00001
NM_052859.4(RFT1):c.559-6T>C rs1204891856 0.00001
NM_052859.4(RFT1):c.573A>C (p.Thr191=) rs528184485 0.00001
NM_052859.4(RFT1):c.63+8C>G rs1022161995 0.00001
NM_052859.4(RFT1):c.63G>A (p.Gln21=) rs139372284 0.00001
NM_052859.4(RFT1):c.64G>A (p.Val22Met) rs374252619 0.00001
NM_052859.4(RFT1):c.665C>T (p.Thr222Ile) rs1323618296 0.00001
NM_052859.4(RFT1):c.675A>G (p.Leu225=) rs1344235659 0.00001
NM_052859.4(RFT1):c.697-13T>G rs928587361 0.00001
NM_052859.4(RFT1):c.698C>T (p.Ala233Val) rs751030368 0.00001
NM_052859.4(RFT1):c.728C>T (p.Thr243Ile) rs762597470 0.00001
NM_052859.4(RFT1):c.777C>T (p.Gly259=) rs752385816 0.00001
NM_052859.4(RFT1):c.839T>C (p.Ile280Thr) rs757620281 0.00001
NM_052859.4(RFT1):c.968C>G (p.Ala323Gly) rs770086765 0.00001
NM_052859.4(RFT1):c.969T>C (p.Ala323=) rs893435134 0.00001
NM_138459.5(NUS1):c.100A>G (p.Asn34Asp) rs934670535 0.00001
NM_138459.5(NUS1):c.154C>G (p.Leu52Val) rs1472312886 0.00001
NM_138459.5(NUS1):c.16G>C (p.Glu6Gln) rs1374617888 0.00001
NM_138459.5(NUS1):c.185T>G (p.Val62Gly) rs754191035 0.00001
NM_138459.5(NUS1):c.202C>T (p.His68Tyr) rs1392977734 0.00001
NM_138459.5(NUS1):c.24G>A (p.Val8=) rs745434007 0.00001
NM_138459.5(NUS1):c.262C>T (p.Arg88Cys) rs1426327353 0.00001
NM_138459.5(NUS1):c.264C>T (p.Arg88=) rs959021329 0.00001
NM_138459.5(NUS1):c.279C>T (p.Ser93=) rs1298752813 0.00001
NM_138459.5(NUS1):c.29G>A (p.Arg10Gln) rs1369494529 0.00001
NM_138459.5(NUS1):c.330G>A (p.Gln110=) rs1414061827 0.00001
NM_138459.5(NUS1):c.335C>G (p.Pro112Arg) rs540846579 0.00001
NM_138459.5(NUS1):c.351C>G (p.Ile117Met) rs1344911571 0.00001
NM_138459.5(NUS1):c.354G>C (p.Ala118=) rs1456838164 0.00001
NM_138459.5(NUS1):c.378C>T (p.Ala126=) rs774571642 0.00001
NM_138459.5(NUS1):c.402C>T (p.Val134=) rs769107043 0.00001
NM_138459.5(NUS1):c.415+9C>T rs1772975415 0.00001
NM_138459.5(NUS1):c.416-10T>C rs751156157 0.00001
NM_138459.5(NUS1):c.416-9T>G rs1328227461 0.00001
NM_138459.5(NUS1):c.46C>T (p.Leu16Phe) rs962512059 0.00001
NM_138459.5(NUS1):c.487G>C (p.Asp163His) rs369403261 0.00001
NM_138459.5(NUS1):c.538C>G (p.Gln180Glu) rs751210637 0.00001
NM_138459.5(NUS1):c.541+19T>C rs756091140 0.00001
NM_138459.5(NUS1):c.579G>A (p.Pro193=) rs753713015 0.00001
NM_138459.5(NUS1):c.601G>A (p.Val201Ile) rs1238998019 0.00001
NM_138459.5(NUS1):c.672T>C (p.Asp224=) rs772889914 0.00001
NM_138459.5(NUS1):c.675G>A (p.Thr225=) rs763523987 0.00001
NM_138459.5(NUS1):c.691+13A>T rs1303197797 0.00001
NM_138459.5(NUS1):c.698A>G (p.Asn233Ser) rs1198292880 0.00001
NM_138459.5(NUS1):c.787A>G (p.Ile263Val) rs1773460765 0.00001
NM_138459.5(NUS1):c.790G>A (p.Val264Ile) rs1562183021 0.00001
NM_138459.5(NUS1):c.792-16C>T rs1049247260 0.00001
NM_138459.5(NUS1):c.792-17C>T rs146457283 0.00001
NM_138459.5(NUS1):c.798G>A (p.Leu266=) rs943172341 0.00001
NM_138459.5(NUS1):c.845G>A (p.Arg282His) rs140791750 0.00001
NM_153741.2(DPM3):c.129_130del (p.Tyr44fs) rs1557794919 0.00001
NM_153741.2(DPM3):c.178C>T (p.Arg60Cys) rs766751249 0.00001
NM_153741.2(DPM3):c.196G>T (p.Asp66Tyr) rs1204451277 0.00001
NM_153741.2(DPM3):c.208G>A (p.Ala70Thr) rs776662775 0.00001
NM_153741.2(DPM3):c.218A>C (p.Glu73Ala) rs745807155 0.00001
NM_153741.2(DPM3):c.266G>A (p.Gly89Glu) rs758821383 0.00001
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro) rs778481307 0.00001
NM_153741.2(DPM3):c.60C>T (p.Ala20=) rs371295542 0.00001
NM_178862.3(STT3B):c.1071A>G (p.Val357=) rs976102255 0.00001
NM_178862.3(STT3B):c.1172+9A>C rs1401856785 0.00001
NM_178862.3(STT3B):c.1342A>G (p.Ile448Val) rs559861697 0.00001
NM_178862.3(STT3B):c.1539+20G>T rs587777217 0.00001
NM_178862.3(STT3B):c.153G>C (p.Pro51=) rs1352764626 0.00001
NM_178862.3(STT3B):c.171G>A (p.Gly57=) rs1430886809 0.00001
NM_178862.3(STT3B):c.2412G>A (p.Arg804=) rs1340679932 0.00001
NM_178862.3(STT3B):c.309C>T (p.Asp103=) rs763169035 0.00001
NM_178862.3(STT3B):c.390A>G (p.Ala130=) rs755782930 0.00001
NM_178862.3(STT3B):c.490G>A (p.Val164Ile) rs1223992368 0.00001
NM_178862.3(STT3B):c.619A>G (p.Ile207Val) rs780102016 0.00001
NM_178862.3(STT3B):c.870C>G (p.Val290=) rs548334707 0.00001
NM_201400.4(EEF2KMT):c.*886C>G rs758181814 0.00001
NM_201400.4(EEF2KMT):c.*893A>C rs1047764 0.00001
ALG9, GLU359LYS
GRCh37/hg19 16p13.2(chr16:8851612-8943194)x3
GRCh37/hg19 16p13.3(chr16:5121789-5133778)
GRCh37/hg19 16p13.3(chr16:5129043-5129828)
Multiple alleles
NC_000001.10:g.(?_155112438)_(155112716_?)dup
NC_000001.10:g.(?_19199339)_(22987879_?)dup
NC_000001.10:g.(?_63836639)_(63902701_?)del
NC_000001.10:g.(?_63836649)_(63836750_?)del
NC_000001.10:g.(?_63867905)_(63902691_?)del
NC_000001.10:g.(?_63867915)_(63868024_?)del
NC_000001.10:g.(?_63885021)_(63885131_?)del
NC_000001.10:g.(?_64059160)_(64059425_?)dup
NC_000001.11:g.(?_155139952)_(155140340_?)dup
NC_000001.11:g.(?_20652359)_(20661421_?)del
NC_000001.11:g.(?_63396503)_(63396607_?)dup
NC_000001.11:g.(?_63428723)_(63429136_?)del
NC_000001.11:g.20661380G>C rs537816
NC_000003.11:g.(?_182733226)_(184094097_?)del
NC_000003.11:g.(?_52109903)_(53164416_?)del
NC_000003.11:g.(?_53125919)_(53164416_?)dup
NC_000003.11:g.(?_53133377)_(53133522_?)del
NC_000003.11:g.(?_53155766)_(53156657_?)del
NC_000004.11:g.(?_56225493)_(56225675_?)del
NC_000006.11:g.(?_116441236)_(119252888_?)del
NC_000006.11:g.(?_117786180)_(117997268_?)dup
NC_000006.11:g.(?_117996834)_(117997268_?)del
NC_000006.11:g.(?_118014185)_(118014350_?)del
NC_000006.11:g.(?_118028088)_(118028178_?)del
NC_000009.11:g.(?_100190748)_(103062956_?)dup
NC_000009.11:g.(?_130216797)_(130953151_?)dup
NC_000009.11:g.(?_130216807)_(130953136_?)del
NC_000009.11:g.(?_131707946)_(131709602_?)dup
NC_000009.12:g.(?_128945677)_(128947313_?)dup
NC_000011.9:g.(118971849_118972204)_(118972786_?)del
NC_000011.9:g.(?_111657121)_(111922093_?)del
NC_000011.9:g.(?_118967698)_(119170501_?)del
NC_000011.9:g.(?_118967698)_(119170501_?)dup
NC_000012.11:g.(?_124191253)_(124207015_?)dup
NC_000013.10:g.(?_52538988)_(52602746_?)dup
NC_000013.10:g.(?_52585403)_(52602726_?)del
NC_000015.9:g.(?_75188483)_(75190081_?)del
NC_000016.10:g.(?_5080946)_(5097739_?)del
NC_000016.10:g.(?_8750402)_(8801930_?)dup
NC_000016.10:g.(?_8764049)_(8811733_?)dup
NC_000016.10:g.(?_8768173)_(8832245_?)dup
NC_000016.10:g.(?_8772760)_(8847845_?)dup
NC_000016.10:g.(?_8779459)_(8847845_?)del
NC_000016.10:g.(?_8781289)_(8847845_?)dup
NC_000016.10:g.(?_8797873)_(8797958_?)del
NC_000016.10:g.(?_8797873)_(8813116_?)del
NC_000016.10:g.(?_8804742)_(8804853_?)del
NC_000016.10:g.(?_8804742)_(8813116_?)del
NC_000016.10:g.(?_8811069)_(8832245_?)del
NC_000016.10:g.(?_8847701)_(8847845_?)del
NC_000016.10:g.8852245_8823657delinsAluYb8
NC_000016.9:g.(8900265_8904935)_(8943195_?)del
NC_000016.9:g.(8906964_8941580)_(8943195_?)del
NC_000016.9:g.(?_5121851)_(5125557_?)del
NC_000016.9:g.(?_5121851)_(5127555_?)dup
NC_000016.9:g.(?_5121851)_(5134882_?)del
NC_000016.9:g.(?_5125369)_(5134882_?)del
NC_000016.9:g.(?_5130927)_(5131077_?)dup
NC_000016.9:g.(?_5132540)_(5134882_?)dup
NC_000016.9:g.(?_5134731)_(5134882_?)dup
NC_000016.9:g.(?_8839838)_(8900284_?)dup
NC_000016.9:g.(?_8839838)_(8905055_?)dup
NC_000016.9:g.(?_8839838)_(8941682_?)dup
NC_000016.9:g.(?_8891573)_(8941682_?)dup
NC_000016.9:g.(?_8891720)_(8900284_?)dup
NC_000016.9:g.(?_8895646)_(8895777_?)del
NC_000016.9:g.(?_8895646)_(8895777_?)dup
NC_000016.9:g.(?_8898599)_(8898710_?)dup
NC_000016.9:g.(?_8900163)_(8941692_?)del
NC_000016.9:g.(?_8905475)_(8905590_?)del
NC_000016.9:g.(?_8906828)_(8906983_?)del
NC_000016.9:g.(?_8926102)_(8941682_?)dup
NC_000020.10:g.(?_49507942)_(49576762_?)del
NC_000020.10:g.(?_49557382)_(49558683_?)dup
NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del
NC_000020.11:g.(?_50934864)_(50958574_?)del
NC_000020.11:g.(?_50940845)_(50942146_?)del
NC_000022.10:g.(?_50167881)_(51066207_?)dup
NC_000022.10:g.(?_50297466)_(51066227_?)del
NC_000022.10:g.(?_50297486)_(50301612_?)del
NC_000022.10:g.(?_50297486)_(50307413_?)del
NC_000022.11:g.(?_49903818)_(49907964_?)del
NC_000023.10:g.(?_109919459)_(111003227_?)del
NC_000023.10:g.(?_110544895)_(111003247_?)del
NC_000023.10:g.(?_110924427)_(111003247_?)dup
NC_000023.10:g.(?_110973603)_(110973828_?)del
NC_000023.11:g.(?_111301667)_(111760019_?)dup
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000303.3(PMM2):c.*1032C>A rs79686490
NM_000303.3(PMM2):c.*1032C>G rs79686490
NM_000303.3(PMM2):c.*1072A>G rs2060947173
NM_000303.3(PMM2):c.*1142A>T rs760967158
NM_000303.3(PMM2):c.*1218A>G rs557668852
NM_000303.3(PMM2):c.*1224C>A rs74008087
NM_000303.3(PMM2):c.*1297C>A rs183853029
NM_000303.3(PMM2):c.*1312T>C rs905795044
NM_000303.3(PMM2):c.*1352G>C rs750545597
NM_000303.3(PMM2):c.*1375G>T rs886052472
NM_000303.3(PMM2):c.*137G>A rs886052459
NM_000303.3(PMM2):c.*1380A>G rs2060949906
NM_000303.3(PMM2):c.*1424C>T rs552732593
NM_000303.3(PMM2):c.*1440C>G rs147950728
NM_000303.3(PMM2):c.*255A>G rs2060940260
NM_000303.3(PMM2):c.*275A>T rs553522916
NM_000303.3(PMM2):c.*276C>G rs573179742
NM_000303.3(PMM2):c.*421G>T rs1178910267
NM_000303.3(PMM2):c.*458C>T rs1380890616
NM_000303.3(PMM2):c.*53G>C rs762640350
NM_000303.3(PMM2):c.*791G>C rs2437722
NM_000303.3(PMM2):c.*91C>T
NM_000303.3(PMM2):c.-167G>T rs1596481676
NM_000303.3(PMM2):c.105G>A (p.Leu35=)
NM_000303.3(PMM2):c.117C>G (p.Ile39Met)
NM_000303.3(PMM2):c.123C>T (p.Ile41=) rs751463681
NM_000303.3(PMM2):c.124G>T (p.Gly42Ter)
NM_000303.3(PMM2):c.127G>A (p.Val43Met) rs376754460
NM_000303.3(PMM2):c.127G>T (p.Val43Leu) rs376754460
NM_000303.3(PMM2):c.129G>A (p.Val43=) rs777608895
NM_000303.3(PMM2):c.129G>T (p.Val43=) rs777608895
NM_000303.3(PMM2):c.130G>A (p.Val44Ile) rs2060618497
NM_000303.3(PMM2):c.130G>C (p.Val44Leu)
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.135C>A (p.Gly45=) rs748980961
NM_000303.3(PMM2):c.137G>A (p.Gly46Glu) rs2141017011
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)
NM_000303.3(PMM2):c.156G>A (p.Val52=)
NM_000303.3(PMM2):c.156G>T (p.Val52=) rs2141017027
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter) rs1057520708
NM_000303.3(PMM2):c.15C>G (p.Gly5=)
NM_000303.3(PMM2):c.15C>T (p.Gly5=)
NM_000303.3(PMM2):c.160dup (p.Glu54fs) rs753122961
NM_000303.3(PMM2):c.162G>A (p.Glu54=) rs1596484153
NM_000303.3(PMM2):c.165A>G (p.Gln55=)
NM_000303.3(PMM2):c.168G>T (p.Leu56=) rs1013771553
NM_000303.3(PMM2):c.169G>C (p.Gly57Arg)
NM_000303.3(PMM2):c.16_22del (p.Pro6fs) rs2141014102
NM_000303.3(PMM2):c.173del (p.Asn58fs)
NM_000303.3(PMM2):c.178+11G>C
NM_000303.3(PMM2):c.178+20T>G
NM_000303.3(PMM2):c.178+2T>G rs1555448922
NM_000303.3(PMM2):c.178+3A>G
NM_000303.3(PMM2):c.178+7G>A rs376829859
NM_000303.3(PMM2):c.179-12T>C
NM_000303.3(PMM2):c.179-13G>A
NM_000303.3(PMM2):c.179-15del rs145496357
NM_000303.3(PMM2):c.179-15dup rs145496357
NM_000303.3(PMM2):c.179-1G>C
NM_000303.3(PMM2):c.179-1G>T rs1166138838
NM_000303.3(PMM2):c.179-20T>G
NM_000303.3(PMM2):c.179-25A>G
NM_000303.3(PMM2):c.179-2A>G rs2141019036
NM_000303.3(PMM2):c.179-4G>A
NM_000303.3(PMM2):c.179-6T>C rs2060637002
NM_000303.3(PMM2):c.179-7A>T rs2060636990
NM_000303.3(PMM2):c.179-8G>C
NM_000303.3(PMM2):c.17_28del (p.Pro6_Cys9del)
NM_000303.3(PMM2):c.188A>T (p.Lys63Ile)
NM_000303.3(PMM2):c.189del (p.Lys63fs) rs1057516815
NM_000303.3(PMM2):c.18A>G (p.Pro6=)
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.191A>C (p.Tyr64Ser)
NM_000303.3(PMM2):c.192C>G (p.Tyr64Ter)
NM_000303.3(PMM2):c.193G>A (p.Asp65Asn)
NM_000303.3(PMM2):c.194A>G (p.Asp65Gly)
NM_000303.3(PMM2):c.195T>C (p.Asp65=)
NM_000303.3(PMM2):c.196dup (p.Tyr66fs)
NM_000303.3(PMM2):c.197_198del (p.Tyr66fs)
NM_000303.3(PMM2):c.1A>G (p.Met1Val) rs786204591
NM_000303.3(PMM2):c.201_202del (p.Phe68fs) rs1343161886
NM_000303.3(PMM2):c.203T>G (p.Phe68Cys) rs373788015
NM_000303.3(PMM2):c.205C>A (p.Pro69Thr)
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.206C>T (p.Pro69Leu)
NM_000303.3(PMM2):c.207A>G (p.Pro69=) rs1053902842
NM_000303.3(PMM2):c.208G>T (p.Glu70Ter)
NM_000303.3(PMM2):c.217T>C (p.Leu73=) rs1446327044
NM_000303.3(PMM2):c.21G>C (p.Ala7=) rs1333237246
NM_000303.3(PMM2):c.223G>C (p.Ala75Pro)
NM_000303.3(PMM2):c.225A>G (p.Ala75=)
NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter)
NM_000303.3(PMM2):c.231del (p.Asp78fs)
NM_000303.3(PMM2):c.234T>C (p.Asp78=) rs1186149338
NM_000303.3(PMM2):c.235G>C (p.Gly79Arg)
NM_000303.3(PMM2):c.243C>T (p.Leu81=) rs1169352353
NM_000303.3(PMM2):c.243_244del (p.Leu82fs) rs2060637616
NM_000303.3(PMM2):c.244T>C (p.Leu82=) rs1399590258
NM_000303.3(PMM2):c.248G>A (p.Cys83Tyr)
NM_000303.3(PMM2):c.250A>T (p.Arg84Ter)
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
NM_000303.3(PMM2):c.255+17C>G
NM_000303.3(PMM2):c.255+1G>C
NM_000303.3(PMM2):c.255+2T>G
NM_000303.3(PMM2):c.255+8C>T
NM_000303.3(PMM2):c.256-15A>T
NM_000303.3(PMM2):c.256-17G>T
NM_000303.3(PMM2):c.256-18_256-15del
NM_000303.3(PMM2):c.256-1G>A
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.256-5T>C rs1430962288
NM_000303.3(PMM2):c.256-6A>C
NM_000303.3(PMM2):c.256-7C>T rs561075568
NM_000303.3(PMM2):c.261T>G (p.Ile87Met)
NM_000303.3(PMM2):c.264A>C (p.Gln88His)
NM_000303.3(PMM2):c.264A>G (p.Gln88=) rs376597290
NM_000303.3(PMM2):c.264_265del (p.His90fs) rs2141019983
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.26G>T (p.Cys9Phe)
NM_000303.3(PMM2):c.270T>C (p.His90=)
NM_000303.3(PMM2):c.273G>A (p.Leu91=) rs2141019988
NM_000303.3(PMM2):c.279G>A (p.Glu93=)
NM_000303.3(PMM2):c.279G>T (p.Glu93Asp)
NM_000303.3(PMM2):c.27C>A (p.Cys9Ter) rs1057516943
NM_000303.3(PMM2):c.283C>T (p.Leu95=) rs2060647522
NM_000303.3(PMM2):c.285A>C (p.Leu95=) rs2141019992
NM_000303.3(PMM2):c.285A>T (p.Leu95=)
NM_000303.3(PMM2):c.288C>T (p.Ile96=)
NM_000303.3(PMM2):c.28C>G (p.Leu10Val)
NM_000303.3(PMM2):c.28del (p.Leu10fs)
NM_000303.3(PMM2):c.294T>C (p.Asp98=)
NM_000303.3(PMM2):c.295T>C (p.Leu99=)
NM_000303.3(PMM2):c.295_296del (p.Leu99fs)
NM_000303.3(PMM2):c.296T>A (p.Leu99Ter)
NM_000303.3(PMM2):c.297A>G (p.Leu99=)
NM_000303.3(PMM2):c.300C>A (p.Ile100=)
NM_000303.3(PMM2):c.300C>T (p.Ile100=) rs747970886
NM_000303.3(PMM2):c.303C>G (p.Asn101Lys)
NM_000303.3(PMM2):c.309T>A (p.Cys103Ter)
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.318C>T (p.Tyr106=) rs930344709
NM_000303.3(PMM2):c.324G>C (p.Ala108=)
NM_000303.3(PMM2):c.324del (p.Ile110fs) rs1555449314
NM_000303.3(PMM2):c.325A>T (p.Lys109Ter)
NM_000303.3(PMM2):c.328A>G (p.Ile110Val)
NM_000303.3(PMM2):c.328_329insGGGAA (p.Ile110fs)
NM_000303.3(PMM2):c.329T>G (p.Ile110Ser) rs2141020030
NM_000303.3(PMM2):c.336C>G (p.Leu112=)
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.339G>C (p.Pro113=)
NM_000303.3(PMM2):c.339G>T (p.Pro113=) rs149849259
NM_000303.3(PMM2):c.340A>T (p.Lys114Ter)
NM_000303.3(PMM2):c.341AGA[1] (p.Lys115del) rs1555449316
NM_000303.3(PMM2):c.345G>A (p.Lys115=) rs2141020046
NM_000303.3(PMM2):c.345dup (p.Arg116fs) rs1057516757
NM_000303.3(PMM2):c.347+15A>C rs751222355
NM_000303.3(PMM2):c.347+17C>T
NM_000303.3(PMM2):c.347+1G>A rs1057517117
NM_000303.3(PMM2):c.347+20A>G
NM_000303.3(PMM2):c.347+3G>A
NM_000303.3(PMM2):c.347+8T>C
NM_000303.3(PMM2):c.348-14C>T
NM_000303.3(PMM2):c.348-17C>T
NM_000303.3(PMM2):c.348-19G>A rs1057523353
NM_000303.3(PMM2):c.348-19_348-18del
NM_000303.3(PMM2):c.348-1G>C rs1555449604
NM_000303.3(PMM2):c.348-2A>C rs1555449603
NM_000303.3(PMM2):c.348-2A>G
NM_000303.3(PMM2):c.348-2_348-1insAA
NM_000303.3(PMM2):c.348-2del rs2141022949
NM_000303.3(PMM2):c.348-3del rs2141022947
NM_000303.3(PMM2):c.348-4C>T
NM_000303.3(PMM2):c.348-5C>A rs746660218
NM_000303.3(PMM2):c.348-5C>T rs746660218
NM_000303.3(PMM2):c.348-8A>C
NM_000303.3(PMM2):c.348-8A>T rs186061775
NM_000303.3(PMM2):c.348-9C>A rs1247908378
NM_000303.3(PMM2):c.349G>C (p.Gly117Arg) rs104894530
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys) rs104894530
NM_000303.3(PMM2):c.34G>C (p.Asp12His)
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala) rs886043289
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)
NM_000303.3(PMM2):c.354T>C (p.Thr118=) rs2141022957
NM_000303.3(PMM2):c.355T>C (p.Phe119Leu) rs1057517110
NM_000303.3(PMM2):c.356T>C (p.Phe119Ser)
NM_000303.3(PMM2):c.357C>T (p.Phe119=) rs80338701
NM_000303.3(PMM2):c.359T>A (p.Ile120Asn)
NM_000303.3(PMM2):c.360T>G (p.Ile120Met)
NM_000303.3(PMM2):c.363A>T (p.Glu121Asp) rs2141022972
NM_000303.3(PMM2):c.365del (p.Phe122fs)
NM_000303.3(PMM2):c.366C>G (p.Phe122Leu)
NM_000303.3(PMM2):c.375G>A (p.Gly125=)
NM_000303.3(PMM2):c.375G>T (p.Gly125=)
NM_000303.3(PMM2):c.377_381del (p.Met126fs) rs2141022986
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.385G>T (p.Val129Leu) rs104894525
NM_000303.3(PMM2):c.386T>C (p.Val129Ala)
NM_000303.3(PMM2):c.387G>A (p.Val129=) rs1310455453
NM_000303.3(PMM2):c.387G>C (p.Val129=)
NM_000303.3(PMM2):c.390C>G (p.Ser130=) rs763944822
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)
NM_000303.3(PMM2):c.392del (p.Pro131fs) rs1555449607
NM_000303.3(PMM2):c.394A>T (p.Ile132Phe) rs753632453
NM_000303.3(PMM2):c.395T>A (p.Ile132Asn)
NM_000303.3(PMM2):c.396T>A (p.Ile132=)
NM_000303.3(PMM2):c.396T>C (p.Ile132=) rs750388534
NM_000303.3(PMM2):c.399A>G (p.Gly133=) rs886043741
NM_000303.3(PMM2):c.405C>A (p.Ser135Arg)
NM_000303.3(PMM2):c.405C>T (p.Ser135=)
NM_000303.3(PMM2):c.40G>A (p.Asp14Asn) rs1473030550
NM_000303.3(PMM2):c.410G>C (p.Ser137Thr) rs2060675203
NM_000303.3(PMM2):c.414del (p.Glu139fs) rs755008774
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.430T>G (p.Phe144Val)
NM_000303.3(PMM2):c.431T>G (p.Phe144Cys) rs2141023054
NM_000303.3(PMM2):c.432C>A (p.Phe144Leu) rs1555449617
NM_000303.3(PMM2):c.434A>G (p.Tyr145Cys)
NM_000303.3(PMM2):c.441C>G (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.442G>T (p.Asp148Tyr)
NM_000303.3(PMM2):c.444T>C (p.Asp148=) rs2141023076
NM_000303.3(PMM2):c.447+11C>A
NM_000303.3(PMM2):c.447+19T>A
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000303.3(PMM2):c.447+2T>A rs1567160054
NM_000303.3(PMM2):c.447+7C>A rs1365835297
NM_000303.3(PMM2):c.447+7C>G rs1365835297
NM_000303.3(PMM2):c.447+7C>T
NM_000303.3(PMM2):c.447+8T>C
NM_000303.3(PMM2):c.447A>T (p.Lys149Asn)
NM_000303.3(PMM2):c.448-11G>A
NM_000303.3(PMM2):c.448-13_448-12del rs1000876069
NM_000303.3(PMM2):c.448-15T>C
NM_000303.3(PMM2):c.448-16T>C
NM_000303.3(PMM2):c.448-18T>A
NM_000303.3(PMM2):c.448-18T>C
NM_000303.3(PMM2):c.448-1G>A rs762937296
NM_000303.3(PMM2):c.448-1_448del rs1414007551
NM_000303.3(PMM2):c.448-23_448-18del rs747968957
NM_000303.3(PMM2):c.448-2A>G rs2141023331
NM_000303.3(PMM2):c.448-2A>T rs2141023331
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.451G>T (p.Glu151Ter) rs2141023340
NM_000303.3(PMM2):c.451_454del rs1274794195
NM_000303.3(PMM2):c.454_455del (p.Asn152fs) rs771240150
NM_000303.3(PMM2):c.457A>G (p.Ile153Val) rs1596489094
NM_000303.3(PMM2):c.457dup (p.Ile153fs) rs2141023345
NM_000303.3(PMM2):c.458T>A (p.Ile153Lys)
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg) rs150577656
NM_000303.3(PMM2):c.458_462del (p.Ile153fs) rs774738702
NM_000303.3(PMM2):c.459A>G (p.Ile153Met)
NM_000303.3(PMM2):c.45G>C (p.Gly15=) rs2141014144
NM_000303.3(PMM2):c.460A>T (p.Arg154Ter)
NM_000303.3(PMM2):c.463C>G (p.Gln155Glu)
NM_000303.3(PMM2):c.463C>T (p.Gln155Ter) rs754407762
NM_000303.3(PMM2):c.467_468delinsT (p.Lys156fs)
NM_000303.3(PMM2):c.470T>G (p.Phe157Cys)
NM_000303.3(PMM2):c.472G>A (p.Val158Ile) rs969802549
NM_000303.3(PMM2):c.477A>G (p.Ala159=)
NM_000303.3(PMM2):c.47C>T (p.Thr16Ile) rs1162452555
NM_000303.3(PMM2):c.483A>G (p.Leu161=)
NM_000303.3(PMM2):c.483A>T (p.Leu161=) rs1433032795
NM_000303.3(PMM2):c.485G>A (p.Arg162Gln)
NM_000303.3(PMM2):c.485G>C (p.Arg162Pro)
NM_000303.3(PMM2):c.486G>T (p.Arg162=)
NM_000303.3(PMM2):c.488A>C (p.Lys163Thr)
NM_000303.3(PMM2):c.488_491del (p.Lys163fs) rs2060678732
NM_000303.3(PMM2):c.48C>A (p.Thr16=)
NM_000303.3(PMM2):c.490G>C (p.Glu164Gln) rs2060678778
NM_000303.3(PMM2):c.4G>A (p.Ala2Thr) rs2141014078
NM_000303.3(PMM2):c.507C>T (p.Gly169=) rs2141023382
NM_000303.3(PMM2):c.508C>T (p.Leu170Phe) rs183384745
NM_000303.3(PMM2):c.511dup (p.Thr171fs) rs1057516323
NM_000303.3(PMM2):c.512C>T (p.Thr171Met)
NM_000303.3(PMM2):c.513G>C (p.Thr171=)
NM_000303.3(PMM2):c.51C>A (p.Leu17=) rs753546439
NM_000303.3(PMM2):c.51C>G (p.Leu17=)
NM_000303.3(PMM2):c.521T>C (p.Ile174Thr)
NM_000303.3(PMM2):c.522A>G (p.Ile174Met)
NM_000303.3(PMM2):c.523+10A>G rs2141023411
NM_000303.3(PMM2):c.523+11T>C
NM_000303.3(PMM2):c.523+13T>C
NM_000303.3(PMM2):c.523+14T>C
NM_000303.3(PMM2):c.523+15G>A
NM_000303.3(PMM2):c.523+16C>G
NM_000303.3(PMM2):c.523+18T>A
NM_000303.3(PMM2):c.523+19G>C
NM_000303.3(PMM2):c.523+1del rs2141023403
NM_000303.3(PMM2):c.523+5T>C
NM_000303.3(PMM2):c.523G>C (p.Gly175Arg)
NM_000303.3(PMM2):c.523G>T (p.Gly175Ter)
NM_000303.3(PMM2):c.524-10C>T
NM_000303.3(PMM2):c.524-13C>G
NM_000303.3(PMM2):c.524-15G>C
NM_000303.3(PMM2):c.524-17C>A
NM_000303.3(PMM2):c.524-17C>T
NM_000303.3(PMM2):c.524-2A>G rs1555449780
NM_000303.3(PMM2):c.524-4G>T
NM_000303.3(PMM2):c.524-4del rs1315129289
NM_000303.3(PMM2):c.524-6del rs746143153
NM_000303.3(PMM2):c.524-7C>T rs2141024194
NM_000303.3(PMM2):c.524-9A>C rs2141024190
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp) rs940938678
NM_000303.3(PMM2):c.527G>T (p.Gly176Val) rs940938678
NM_000303.3(PMM2):c.528C>T (p.Gly176=)
NM_000303.3(PMM2):c.52A>G (p.Thr18Ala)
NM_000303.3(PMM2):c.531G>A (p.Gln177=)
NM_000303.3(PMM2):c.534C>G (p.Ile178Met)
NM_000303.3(PMM2):c.534C>T (p.Ile178=)
NM_000303.3(PMM2):c.537C>T (p.Ser179=)
NM_000303.3(PMM2):c.539T>C (p.Phe180Ser) rs1293479073
NM_000303.3(PMM2):c.544G>C (p.Val182Leu) rs750862179
NM_000303.3(PMM2):c.54C>T (p.Thr18=)
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.552T>C (p.Pro184=) rs560182098
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly) rs1386173214
NM_000303.3(PMM2):c.556G>A (p.Gly186Arg) rs1384610957
NM_000303.3(PMM2):c.558A>G (p.Gly186=)
NM_000303.3(PMM2):c.55del (p.Ala19fs) rs1596481889
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter) rs201855351
NM_000303.3(PMM2):c.562G>T (p.Asp188Tyr) rs2141024241
NM_000303.3(PMM2):c.562del (p.Asp188fs)
NM_000303.3(PMM2):c.564C>A (p.Asp188Glu)
NM_000303.3(PMM2):c.564C>T (p.Asp188=) rs2060686207
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs) rs2060686245
NM_000303.3(PMM2):c.567G>A (p.Lys189=)
NM_000303.3(PMM2):c.568A>C (p.Arg190=)
NM_000303.3(PMM2):c.56C>T (p.Ala19Val) rs750307011
NM_000303.3(PMM2):c.571T>C (p.Tyr191His) rs1267170921
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter) rs201440361
NM_000303.3(PMM2):c.574T>A (p.Cys192Ser)
NM_000303.3(PMM2):c.574T>C (p.Cys192Arg)
NM_000303.3(PMM2):c.577C>G (p.Leu193Val)
NM_000303.3(PMM2):c.584_585del (p.His195fs)
NM_000303.3(PMM2):c.585T>C (p.His195=) rs2141024274
NM_000303.3(PMM2):c.593A>G (p.Asn198Ser) rs773420873
NM_000303.3(PMM2):c.598G>A (p.Gly200Ser)
NM_000303.3(PMM2):c.599G>T (p.Gly200Val)
NM_000303.3(PMM2):c.59C>G (p.Pro20Arg) rs2060588870
NM_000303.3(PMM2):c.59C>T (p.Pro20Leu)
NM_000303.3(PMM2):c.59del (p.Pro20fs) rs2141014161
NM_000303.3(PMM2):c.600T>A (p.Gly200=)
NM_000303.3(PMM2):c.602A>G (p.Tyr201Cys)
NM_000303.3(PMM2):c.603T>C (p.Tyr201=)
NM_000303.3(PMM2):c.603T>G (p.Tyr201Ter) rs1202400777
NM_000303.3(PMM2):c.609C>T (p.Thr203=)
NM_000303.3(PMM2):c.60G>A (p.Pro20=) rs2141014167
NM_000303.3(PMM2):c.615T>C (p.Tyr205=)
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu) rs1460691341
NM_000303.3(PMM2):c.618C>T (p.Phe206=) rs1460691341
NM_000303.3(PMM2):c.61C>A (p.Arg21=) rs758340382
NM_000303.3(PMM2):c.61C>G (p.Arg21Gly) rs758340382
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.61dup (p.Arg21fs)
NM_000303.3(PMM2):c.621T>C (p.Phe207=)
NM_000303.3(PMM2):c.627C>G (p.Asp209Glu)
NM_000303.3(PMM2):c.631A>G (p.Thr211Ala)
NM_000303.3(PMM2):c.633T>C (p.Thr211=) rs749542076
NM_000303.3(PMM2):c.639+19G>A
NM_000303.3(PMM2):c.639+1G>A rs1057517183
NM_000303.3(PMM2):c.639+2T>C
NM_000303.3(PMM2):c.639+8G>C
NM_000303.3(PMM2):c.639+9A>G
NM_000303.3(PMM2):c.63G>A (p.Arg21=)
NM_000303.3(PMM2):c.640-12G>C rs375325546
NM_000303.3(PMM2):c.640-13C>A rs372181885
NM_000303.3(PMM2):c.640-16C>G rs2141051377
NM_000303.3(PMM2):c.640-17A>C
NM_000303.3(PMM2):c.640-23A>G rs981372486
NM_000303.3(PMM2):c.640-25_640-22dup rs1555453228
NM_000303.3(PMM2):c.640-28C>G rs181837170
NM_000303.3(PMM2):c.640-4C>G
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.640G>C (p.Gly214Arg)
NM_000303.3(PMM2):c.646A>G (p.Asn216Asp)
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.64C>T (p.Gln22Ter)
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu) rs752614554
NM_000303.3(PMM2):c.651C>T (p.Asp217=) rs752614554
NM_000303.3(PMM2):c.653A>T (p.His218Leu) rs80338705
NM_000303.3(PMM2):c.653dup (p.His218fs) rs1555453241
NM_000303.3(PMM2):c.66+10G>A rs747786171
NM_000303.3(PMM2):c.66+10_66+12del rs1213382634
NM_000303.3(PMM2):c.66+12C>T
NM_000303.3(PMM2):c.66+13C>T
NM_000303.3(PMM2):c.66+13_66+20del rs1596481910
NM_000303.3(PMM2):c.66+17G>A
NM_000303.3(PMM2):c.66+1G>A rs937726878
NM_000303.3(PMM2):c.66+1del rs1555495965
NM_000303.3(PMM2):c.66+20C>G
NM_000303.3(PMM2):c.66+9C>A
NM_000303.3(PMM2):c.66+9C>T
NM_000303.3(PMM2):c.660C>G (p.Ile220Met)
NM_000303.3(PMM2):c.663C>T (p.Phe221=) rs199927358
NM_000303.3(PMM2):c.666A>G (p.Thr222=) rs770457654
NM_000303.3(PMM2):c.667G>A (p.Asp223Asn)
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
NM_000303.3(PMM2):c.669C>G (p.Asp223Glu) rs104894531
NM_000303.3(PMM2):c.669C>T (p.Asp223=) rs104894531
NM_000303.3(PMM2):c.66_66+1delinsTA
NM_000303.3(PMM2):c.67-15T>C
NM_000303.3(PMM2):c.67-1G>C
NM_000303.3(PMM2):c.67-20T>C
NM_000303.3(PMM2):c.67-2A>G
NM_000303.3(PMM2):c.67-2A>T rs1555448897
NM_000303.3(PMM2):c.67-6A>G
NM_000303.3(PMM2):c.67-8A>G
NM_000303.3(PMM2):c.671C>G (p.Pro224Arg) rs778488908
NM_000303.3(PMM2):c.671C>T (p.Pro224Leu)
NM_000303.3(PMM2):c.672C>T (p.Pro224=) rs2141051463
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.3(PMM2):c.677C>T (p.Thr226Ile)
NM_000303.3(PMM2):c.678C>T (p.Thr226=) rs1480238805
NM_000303.3(PMM2):c.682G>A (p.Gly228Ser)
NM_000303.3(PMM2):c.682G>C (p.Gly228Arg)
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys) rs558826439
NM_000303.3(PMM2):c.687C>A (p.Tyr229Ter)
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter) rs148759949
NM_000303.3(PMM2):c.687C>T (p.Tyr229=)
NM_000303.3(PMM2):c.691G>C (p.Val231Leu)
NM_000303.3(PMM2):c.691G>T (p.Val231Leu)
NM_000303.3(PMM2):c.693G>T (p.Val231=)
NM_000303.3(PMM2):c.696A>G (p.Thr232=) rs2141051514
NM_000303.3(PMM2):c.696del (p.Ala233fs) rs2141051516
NM_000303.3(PMM2):c.697G>A (p.Ala233Thr)
NM_000303.3(PMM2):c.701C>T (p.Pro234Leu)
NM_000303.3(PMM2):c.703G>C (p.Glu235Gln)
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.705G>A (p.Glu235=)
NM_000303.3(PMM2):c.706G>A (p.Asp236Asn)
NM_000303.3(PMM2):c.708C>G (p.Asp236Glu)
NM_000303.3(PMM2):c.708C>T (p.Asp236=) rs752495420
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.711G>C (p.Thr237=)
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro) rs151319324
NM_000303.3(PMM2):c.714C>G (p.Arg238=) rs141562154
NM_000303.3(PMM2):c.715A>T (p.Arg239Trp)
NM_000303.3(PMM2):c.716G>C (p.Arg239Thr)
NM_000303.3(PMM2):c.717G>C (p.Arg239Ser)
NM_000303.3(PMM2):c.717G>T (p.Arg239Ser)
NM_000303.3(PMM2):c.720C>T (p.Ile240=)
NM_000303.3(PMM2):c.721T>C (p.Cys241Arg)
NM_000303.3(PMM2):c.723T>G (p.Cys241Trp)
NM_000303.3(PMM2):c.728T>C (p.Leu243Pro) rs2060937980
NM_000303.3(PMM2):c.72del (p.Thr25fs) rs2060617981
NM_000303.3(PMM2):c.730C>T (p.Leu244=) rs1205209003
NM_000303.3(PMM2):c.732G>C (p.Leu244=) rs1164763496
NM_000303.3(PMM2):c.735C>G (p.Phe245Leu)
NM_000303.3(PMM2):c.737C>A (p.Ser246Tyr) rs769177253
NM_000303.3(PMM2):c.737_739del (p.Ser246del) rs764817746
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln) rs1555453271
NM_000303.3(PMM2):c.73dup (p.Thr25fs) rs2141016934
NM_000303.3(PMM2):c.75C>G (p.Thr25=) rs1172729028
NM_000303.3(PMM2):c.76A>G (p.Lys26Glu)
NM_000303.3(PMM2):c.76A>T (p.Lys26Ter)
NM_000303.3(PMM2):c.78A>G (p.Lys26=)
NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638
NM_000303.3(PMM2):c.94C>G (p.Leu32Val)
NM_000303.3(PMM2):c.94C>T (p.Leu32=)
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg) rs398123312
NM_000303.3(PMM2):c.96A>G (p.Leu32=)
NM_000303.3(PMM2):c.96A>T (p.Leu32=)
NM_000303.3(PMM2):c.9G>C (p.Ala3=) rs2060588329
NM_001004127.3(ALG11):c.1036C>T (p.Arg346Cys)
NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser) rs387907182
NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr) rs2140840645
NM_001004127.3(ALG11):c.1191C>T (p.Asn397=) rs141089354
NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys) rs387907183
NM_001004127.3(ALG11):c.1220G>T (p.Cys407Phe)
NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg) rs1064795803
NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn) rs398123525
NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn)
NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val) rs757069433
NM_001004127.3(ALG11):c.137T>C (p.Leu46Pro) rs794727256
NM_001004127.3(ALG11):c.1462G>T (p.Glu488Ter)
NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs)
NM_001004127.3(ALG11):c.168C>G (p.Ser56Arg) rs1954160784
NM_001004127.3(ALG11):c.187A>T (p.Met63Leu) rs2140832522
NM_001004127.3(ALG11):c.18G>A (p.Arg6=) rs1393492365
NM_001004127.3(ALG11):c.190G>A (p.Val64Met) rs1419202736
NM_001004127.3(ALG11):c.1A>G (p.Met1Val) rs921941078
NM_001004127.3(ALG11):c.238A>G (p.Arg80Gly)
NM_001004127.3(ALG11):c.251G>A (p.Cys84Tyr)
NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser) rs267606652
NM_001004127.3(ALG11):c.27C>A (p.Cys9Ter)
NM_001004127.3(ALG11):c.281C>G (p.Pro94Arg) rs771281050
NM_001004127.3(ALG11):c.2T>C (p.Met1Thr) rs2140807775
NM_001004127.3(ALG11):c.306C>T (p.Thr102=)
NM_001004127.3(ALG11):c.309C>T (p.Gly103=)
NM_001004127.3(ALG11):c.31T>G (p.Cys11Gly) rs1444016944
NM_001004127.3(ALG11):c.364A>C (p.Ile122Leu)
NM_001004127.3(ALG11):c.402G>A (p.Arg134=) rs2140838895
NM_001004127.3(ALG11):c.44+14C>G
NM_001004127.3(ALG11):c.445C>T (p.Leu149=)
NM_001004127.3(ALG11):c.494T>C (p.Met165Thr)
NM_001004127.3(ALG11):c.526A>G (p.Met176Val) rs1268308514
NM_001004127.3(ALG11):c.534C>T (p.Tyr178=)
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val) rs1363416785
NM_001004127.3(ALG11):c.612C>T (p.Thr204=)
NM_001004127.3(ALG11):c.623_642del (p.Ser208fs) rs387907180
NM_001004127.3(ALG11):c.636T>G (p.Asn212Lys) rs1954216629
NM_001004127.3(ALG11):c.662C>G (p.Ala221Gly) rs142637770
NM_001004127.3(ALG11):c.678T>C (p.Asn226=) rs1593903157
NM_001004127.3(ALG11):c.6G>A (p.Ala2=)
NM_001004127.3(ALG11):c.75C>T (p.Leu25=) rs886050312
NM_001004127.3(ALG11):c.770A>G (p.Asn257Ser)
NM_001004127.3(ALG11):c.778T>C (p.Trp260Arg)
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala) rs1401571024
NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser) rs387907181
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu) rs1593903383
NM_001004127.3(ALG11):c.900A>T (p.Gly300=) rs376118160
NM_001004127.3(ALG11):c.932C>T (p.Pro311Leu)
NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly) rs1064795802
NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu) rs2140840089
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro) rs387907184
NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del) rs1064794465
NM_001004127.3(ALG11):c.991G>T (p.Val331Phe) rs750430228
NM_001006941.2(ALG3):c.46G>T (p.Gly16Trp) rs373046727
NM_001099922.3(ALG13):c.1001A>G (p.Asp334Gly) rs1940092970
NM_001099922.3(ALG13):c.1002C>T (p.Asp334=)
NM_001099922.3(ALG13):c.1003A>C (p.Lys335Gln)
NM_001099922.3(ALG13):c.1005+10T>A
NM_001099922.3(ALG13):c.1005+13G>A
NM_001099922.3(ALG13):c.1005+14T>C
NM_001099922.3(ALG13):c.1006-16G>A
NM_001099922.3(ALG13):c.1006-18C>G
NM_001099922.3(ALG13):c.1006-19T>A
NM_001099922.3(ALG13):c.1006A>G (p.Ile336Val)
NM_001099922.3(ALG13):c.1019A>G (p.Tyr340Cys)
NM_001099922.3(ALG13):c.1027A>T (p.Ser343Cys)
NM_001099922.3(ALG13):c.1028G>A (p.Ser343Asn)
NM_001099922.3(ALG13):c.1070G>A (p.Ser357Asn)
NM_001099922.3(ALG13):c.1087+10G>A
NM_001099922.3(ALG13):c.1087+12C>T
NM_001099922.3(ALG13):c.1087+9A>C
NM_001099922.3(ALG13):c.1088-12T>A
NM_001099922.3(ALG13):c.1088-14C>T
NM_001099922.3(ALG13):c.1088-16A>T
NM_001099922.3(ALG13):c.1098C>T (p.Tyr366=)
NM_001099922.3(ALG13):c.1110T>C (p.Tyr370=)
NM_001099922.3(ALG13):c.1114G>A (p.Asp372Asn) rs2148112840
NM_001099922.3(ALG13):c.1125T>C (p.Val375=)
NM_001099922.3(ALG13):c.1143G>C (p.Leu381Phe)
NM_001099922.3(ALG13):c.1144A>G (p.Lys382Glu) rs1940898635
NM_001099922.3(ALG13):c.114C>G (p.Ile38Met) rs1206750653
NM_001099922.3(ALG13):c.1154T>G (p.Ile385Ser)
NM_001099922.3(ALG13):c.1167A>G (p.Arg389=)
NM_001099922.3(ALG13):c.1176T>G (p.Ser392=)
NM_001099922.3(ALG13):c.1183A>C (p.Asn395His) rs1602694279
NM_001099922.3(ALG13):c.1185C>T (p.Asn395=)
NM_001099922.3(ALG13):c.1186A>C (p.Arg396=)
NM_001099922.3(ALG13):c.1194T>C (p.Asn398=)
NM_001099922.3(ALG13):c.120A>C (p.Gln40His) rs2147624939
NM_001099922.3(ALG13):c.1221T>C (p.His407=) rs1602694489
NM_001099922.3(ALG13):c.1225G>C (p.Asp409His) rs940730126
NM_001099922.3(ALG13):c.1245G>A (p.Gln415=)
NM_001099922.3(ALG13):c.1250+14A>G
NM_001099922.3(ALG13):c.1250+8del rs2148114059
NM_001099922.3(ALG13):c.1251-18C>T
NM_001099922.3(ALG13):c.1251-4T>C rs1602705501
NM_001099922.3(ALG13):c.1260G>A (p.Glu420=)
NM_001099922.3(ALG13):c.1264G>A (p.Gly422Ser) rs990346795
NM_001099922.3(ALG13):c.126T>A (p.Gly42=)
NM_001099922.3(ALG13):c.12G>A (p.Val4=) rs781450458
NM_001099922.3(ALG13):c.1310G>A (p.Gly437Glu)
NM_001099922.3(ALG13):c.1317A>C (p.Glu439Asp)
NM_001099922.3(ALG13):c.1318G>A (p.Glu440Lys) rs2148136453
NM_001099922.3(ALG13):c.131G>A (p.Gly44Glu)
NM_001099922.3(ALG13):c.1326+12T>C
NM_001099922.3(ALG13):c.1326+15A>G
NM_001099922.3(ALG13):c.1326+22del
NM_001099922.3(ALG13):c.1326+3T>A
NM_001099922.3(ALG13):c.135G>A (p.Thr45=)
NM_001099922.3(ALG13):c.135G>C (p.Thr45=)
NM_001099922.3(ALG13):c.1365G>A (p.Lys455=)
NM_001099922.3(ALG13):c.1435+12T>G
NM_001099922.3(ALG13):c.1435+15A>G
NM_001099922.3(ALG13):c.1435+16C>G rs2148153415
NM_001099922.3(ALG13):c.1435+19G>C
NM_001099922.3(ALG13):c.1436-11dup
NM_001099922.3(ALG13):c.1436-19C>A
NM_001099922.3(ALG13):c.1436-3T>C
NM_001099922.3(ALG13):c.1436-5A>G
NM_001099922.3(ALG13):c.1436-8T>C
NM_001099922.3(ALG13):c.1443A>G (p.Gln481=) rs374692571
NM_001099922.3(ALG13):c.1449T>C (p.Ser483=)
NM_001099922.3(ALG13):c.1461G>A (p.Glu487=)
NM_001099922.3(ALG13):c.1473A>G (p.Arg491=) rs1941545350
NM_001099922.3(ALG13):c.1474C>G (p.Gln492Glu)
NM_001099922.3(ALG13):c.1481A>G (p.Tyr494Cys)
NM_001099922.3(ALG13):c.1483T>G (p.Leu495Val)
NM_001099922.3(ALG13):c.1491C>A (p.Asp497Glu)
NM_001099922.3(ALG13):c.1500+12del
NM_001099922.3(ALG13):c.1500+13T>G
NM_001099922.3(ALG13):c.1501-12T>C
NM_001099922.3(ALG13):c.1501-18dup
NM_001099922.3(ALG13):c.1501-20T>C
NM_001099922.3(ALG13):c.1501-5T>C
NM_001099922.3(ALG13):c.1518A>T (p.Glu506Asp) rs1941679245
NM_001099922.3(ALG13):c.1527T>C (p.Tyr509=)
NM_001099922.3(ALG13):c.1530T>C (p.Tyr510=)
NM_001099922.3(ALG13):c.1536T>C (p.Ala512=)
NM_001099922.3(ALG13):c.1562A>G (p.Asn521Ser)
NM_001099922.3(ALG13):c.156T>C (p.Ser52=)
NM_001099922.3(ALG13):c.1590A>G (p.Glu530=)
NM_001099922.3(ALG13):c.159T>C (p.Thr53=)
NM_001099922.3(ALG13):c.1601+11G>A rs770867470
NM_001099922.3(ALG13):c.1601+17T>G
NM_001099922.3(ALG13):c.1601+18T>G
NM_001099922.3(ALG13):c.1601+9A>G
NM_001099922.3(ALG13):c.1602-15C>A
NM_001099922.3(ALG13):c.1602-15C>T
NM_001099922.3(ALG13):c.1619C>G (p.Ala540Gly) rs1234385710
NM_001099922.3(ALG13):c.1629A>G (p.Lys543=)
NM_001099922.3(ALG13):c.1632A>C (p.Pro544=)
NM_001099922.3(ALG13):c.1632A>G (p.Pro544=)
NM_001099922.3(ALG13):c.1638C>G (p.Thr546=) rs1602730496
NM_001099922.3(ALG13):c.1638C>T (p.Thr546=) rs1602730496
NM_001099922.3(ALG13):c.1641A>T (p.Gln547His) rs768589790
NM_001099922.3(ALG13):c.1642G>A (p.Val548Met) rs1941813123
NM_001099922.3(ALG13):c.164C>T (p.Ser55Leu) rs1933620653
NM_001099922.3(ALG13):c.1651G>C (p.Val551Leu)
NM_001099922.3(ALG13):c.1655C>G (p.Pro552Arg)
NM_001099922.3(ALG13):c.165G>A (p.Ser55=)
NM_001099922.3(ALG13):c.1671G>T (p.Met557Ile)
NM_001099922.3(ALG13):c.1674C>T (p.Pro558=) rs2148191123
NM_001099922.3(ALG13):c.1685G>C (p.Gly562Ala)
NM_001099922.3(ALG13):c.1691G>T (p.Gly564Val)
NM_001099922.3(ALG13):c.1695C>T (p.Tyr565=)
NM_001099922.3(ALG13):c.1706C>T (p.Pro569Leu)
NM_001099922.3(ALG13):c.1707T>C (p.Pro569=) rs1602730890
NM_001099922.3(ALG13):c.1722G>A (p.Pro574=)
NM_001099922.3(ALG13):c.1729+15G>A
NM_001099922.3(ALG13):c.1730-9G>A rs767872924
NM_001099922.3(ALG13):c.1758G>A (p.Gln586=)
NM_001099922.3(ALG13):c.1780C>G (p.Arg594Gly)
NM_001099922.3(ALG13):c.1803T>A (p.Thr601=)
NM_001099922.3(ALG13):c.1805T>C (p.Met602Thr)
NM_001099922.3(ALG13):c.1818G>A (p.Lys606=)
NM_001099922.3(ALG13):c.1824C>T (p.Asp608=) rs761077008
NM_001099922.3(ALG13):c.1830C>G (p.Leu610=) rs771232900
NM_001099922.3(ALG13):c.1831C>G (p.Leu611Val) rs199505558
NM_001099922.3(ALG13):c.1833C>T (p.Leu611=)
NM_001099922.3(ALG13):c.1838C>G (p.Pro613Arg)
NM_001099922.3(ALG13):c.1842G>T (p.Arg614Ser) rs1942117760
NM_001099922.3(ALG13):c.1843C>G (p.Leu615Val) rs374231091
NM_001099922.3(ALG13):c.1844T>G (p.Leu615Arg)
NM_001099922.3(ALG13):c.1845G>A (p.Leu615=)
NM_001099922.3(ALG13):c.1879A>G (p.Met627Val)
NM_001099922.3(ALG13):c.1886A>G (p.Tyr629Cys)
NM_001099922.3(ALG13):c.1888T>C (p.Ser630Pro) rs1942124594
NM_001099922.3(ALG13):c.1895C>G (p.Thr632Arg) rs1602745141
NM_001099922.3(ALG13):c.1900G>C (p.Gly634Arg)
NM_001099922.3(ALG13):c.1909A>G (p.Met637Val)
NM_001099922.3(ALG13):c.191A>G (p.Lys64Arg) rs2147626333
NM_001099922.3(ALG13):c.1930C>G (p.Pro644Ala)
NM_001099922.3(ALG13):c.1931C>T (p.Pro644Leu)
NM_001099922.3(ALG13):c.1938T>C (p.His646=)
NM_001099922.3(ALG13):c.1941A>G (p.Pro647=) rs1942135193
NM_001099922.3(ALG13):c.1945C>G (p.Pro649Ala)
NM_001099922.3(ALG13):c.1946C>T (p.Pro649Leu)
NM_001099922.3(ALG13):c.1968G>C (p.Gly656=)
NM_001099922.3(ALG13):c.1969A>G (p.Met657Val) rs2148221188
NM_001099922.3(ALG13):c.1974C>T (p.Pro658=)
NM_001099922.3(ALG13):c.1976+11G>T
NM_001099922.3(ALG13):c.1976+14A>G
NM_001099922.3(ALG13):c.1976+16A>G
NM_001099922.3(ALG13):c.1976+20G>A rs1556507692
NM_001099922.3(ALG13):c.1976+20G>T
NM_001099922.3(ALG13):c.1976+8A>G
NM_001099922.3(ALG13):c.1977-17T>A
NM_001099922.3(ALG13):c.1977G>A (p.Arg659=) rs1942182184
NM_001099922.3(ALG13):c.197C>A (p.Ser66Tyr)
NM_001099922.3(ALG13):c.1983A>G (p.Ser661=)
NM_001099922.3(ALG13):c.1983A>T (p.Ser661=) rs1241055923
NM_001099922.3(ALG13):c.1989G>A (p.Arg663=)
NM_001099922.3(ALG13):c.2003ACA[1] (p.Asn669del) rs1489100083
NM_001099922.3(ALG13):c.2022A>T (p.Lys674Asn)
NM_001099922.3(ALG13):c.2023G>A (p.Val675Ile) rs2148225487
NM_001099922.3(ALG13):c.2024T>G (p.Val675Gly) rs2148225523
NM_001099922.3(ALG13):c.2027A>C (p.Asp676Ala)
NM_001099922.3(ALG13):c.2047A>G (p.Lys683Glu) rs1942189447
NM_001099922.3(ALG13):c.2048A>G (p.Lys683Arg) rs1942189933
NM_001099922.3(ALG13):c.2052G>A (p.Arg684=)
NM_001099922.3(ALG13):c.2053T>A (p.Cys685Ser)
NM_001099922.3(ALG13):c.2077T>A (p.Ser693Thr) rs1942193577
NM_001099922.3(ALG13):c.2090+10G>T
NM_001099922.3(ALG13):c.2090+15G>A
NM_001099922.3(ALG13):c.2090+20_2090+23del
NM_001099922.3(ALG13):c.2090+22_2090+39del
NM_001099922.3(ALG13):c.2090+9T>C
NM_001099922.3(ALG13):c.2090G>A (p.Arg697His) rs1416055334
NM_001099922.3(ALG13):c.2091-15T>C rs2148227986
NM_001099922.3(ALG13):c.2091-17T>C
NM_001099922.3(ALG13):c.2091-17T>G
NM_001099922.3(ALG13):c.2091-18T>C
NM_001099922.3(ALG13):c.2091-4T>G
NM_001099922.3(ALG13):c.2091-7A>T rs2148228043
NM_001099922.3(ALG13):c.2091-8C>G rs939425312
NM_001099922.3(ALG13):c.2106T>G (p.Ser702Arg) rs797044876
NM_001099922.3(ALG13):c.2108A>G (p.His703Arg)
NM_001099922.3(ALG13):c.2124T>C (p.Cys708=)
NM_001099922.3(ALG13):c.2133G>A (p.Lys711=)
NM_001099922.3(ALG13):c.2139C>A (p.Ser713=)
NM_001099922.3(ALG13):c.2142G>A (p.Gln714=) rs1602749741
NM_001099922.3(ALG13):c.2144A>T (p.Tyr715Phe) rs1569519563
NM_001099922.3(ALG13):c.2145T>C (p.Tyr715=)
NM_001099922.3(ALG13):c.2191A>G (p.Thr731Ala)
NM_001099922.3(ALG13):c.2193T>G (p.Thr731=)
NM_001099922.3(ALG13):c.2196T>A (p.Ile732=)
NM_001099922.3(ALG13):c.2199T>A (p.Thr733=)
NM_001099922.3(ALG13):c.21C>T (p.Thr7=) rs1446370125
NM_001099922.3(ALG13):c.2205T>C (p.Tyr735=) rs1060503802
NM_001099922.3(ALG13):c.2206G>A (p.Glu736Lys) rs2148229477
NM_001099922.3(ALG13):c.2222A>G (p.Asp741Gly) rs1942226321
NM_001099922.3(ALG13):c.2237C>T (p.Pro746Leu)
NM_001099922.3(ALG13):c.2239A>G (p.Thr747Ala)
NM_001099922.3(ALG13):c.2247+13A>G
NM_001099922.3(ALG13):c.2247+16C>T
NM_001099922.3(ALG13):c.2247+20A>G
NM_001099922.3(ALG13):c.2248-13C>G
NM_001099922.3(ALG13):c.2248-14TC[2] rs746217514
NM_001099922.3(ALG13):c.2248-19G>A
NM_001099922.3(ALG13):c.2261C>T (p.Pro754Leu) rs1242753495
NM_001099922.3(ALG13):c.2262C>T (p.Pro754=)
NM_001099922.3(ALG13):c.2265T>A (p.Ser755=)
NM_001099922.3(ALG13):c.2265T>C (p.Ser755=)
NM_001099922.3(ALG13):c.2280T>C (p.Ala760=) rs753759357
NM_001099922.3(ALG13):c.2282C>T (p.Thr761Ile) rs2148234911
NM_001099922.3(ALG13):c.2283T>C (p.Thr761=)
NM_001099922.3(ALG13):c.2286A>G (p.Ser762=)
NM_001099922.3(ALG13):c.2291A>G (p.Tyr764Cys)
NM_001099922.3(ALG13):c.2293T>C (p.Cys765Arg) rs927961674
NM_001099922.3(ALG13):c.2296G>A (p.Val766Ile)
NM_001099922.3(ALG13):c.22G>C (p.Val8Leu) rs2147592883
NM_001099922.3(ALG13):c.2304G>A (p.Arg768=)
NM_001099922.3(ALG13):c.2305C>T (p.Arg769Trp)
NM_001099922.3(ALG13):c.230T>C (p.Val77Ala) rs1933636414
NM_001099922.3(ALG13):c.2316C>G (p.Ser772Arg) rs1556509706
NM_001099922.3(ALG13):c.2328G>A (p.Gln776=)
NM_001099922.3(ALG13):c.2332T>G (p.Leu778Val) rs755678773
NM_001099922.3(ALG13):c.2334G>C (p.Leu778Phe) rs1942288359
NM_001099922.3(ALG13):c.2358G>T (p.Gln786His)
NM_001099922.3(ALG13):c.2367T>A (p.Asn789Lys)
NM_001099922.3(ALG13):c.2368+13_2368+14del rs1942292917
NM_001099922.3(ALG13):c.2368+20A>G
NM_001099922.3(ALG13):c.2369-15G>A
NM_001099922.3(ALG13):c.2369-15_2369-11del
NM_001099922.3(ALG13):c.2369-17T>C
NM_001099922.3(ALG13):c.2369-20G>A
NM_001099922.3(ALG13):c.2373A>G (p.Arg791=) rs1006542504
NM_001099922.3(ALG13):c.2373A>T (p.Arg791=) rs1006542504
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2384A>T (p.Glu795Val) rs2148261992
NM_001099922.3(ALG13):c.2398G>T (p.Ala800Ser)
NM_001099922.3(ALG13):c.2401+20G>C
NM_001099922.3(ALG13):c.2401+9G>A
NM_001099922.3(ALG13):c.2402-11A>G
NM_001099922.3(ALG13):c.2402-14G>T
NM_001099922.3(ALG13):c.2402-20A>G
NM_001099922.3(ALG13):c.2402-3T>C rs1942568665
NM_001099922.3(ALG13):c.2402-6C>T
NM_001099922.3(ALG13):c.2411A>G (p.Tyr804Cys)
NM_001099922.3(ALG13):c.2415A>G (p.Glu805=)
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr) rs1064796372
NM_001099922.3(ALG13):c.2427T>C (p.Val809=)
NM_001099922.3(ALG13):c.2436A>G (p.Thr812=)
NM_001099922.3(ALG13):c.244+12T>C
NM_001099922.3(ALG13):c.244+15G>C rs1933641836
NM_001099922.3(ALG13):c.244+20T>G
NM_001099922.3(ALG13):c.2440G>A (p.Ala814Thr)
NM_001099922.3(ALG13):c.2442A>G (p.Ala814=)
NM_001099922.3(ALG13):c.2448A>G (p.Thr816=) rs2148264402
NM_001099922.3(ALG13):c.245-10A>G
NM_001099922.3(ALG13):c.245-12T>A rs773672059
NM_001099922.3(ALG13):c.245-17T>C rs1934554117
NM_001099922.3(ALG13):c.245-7T>C
NM_001099922.3(ALG13):c.245-8A>G
NM_001099922.3(ALG13):c.2453A>T (p.Asn818Ile) rs770109323
NM_001099922.3(ALG13):c.2457+13T>A
NM_001099922.3(ALG13):c.2457+14A>G
NM_001099922.3(ALG13):c.2457+15_2457+17del rs761459857
NM_001099922.3(ALG13):c.2457+16T>C
NM_001099922.3(ALG13):c.2457+17A>C
NM_001099922.3(ALG13):c.2457+18G>C
NM_001099922.3(ALG13):c.2458-10T>G
NM_001099922.3(ALG13):c.2458-12_2458-10del
NM_001099922.3(ALG13):c.2458-15_2486del rs770762084
NM_001099922.3(ALG13):c.2458-1G>A rs1008287339
NM_001099922.3(ALG13):c.2458-4A>G
NM_001099922.3(ALG13):c.2465A>G (p.Gln822Arg)
NM_001099922.3(ALG13):c.2476T>A (p.Ser826Thr)
NM_001099922.3(ALG13):c.2479T>A (p.Cys827Ser) rs1943106113
NM_001099922.3(ALG13):c.2494C>G (p.Gln832Glu) rs2148314775
NM_001099922.3(ALG13):c.2495A>G (p.Gln832Arg)
NM_001099922.3(ALG13):c.2500A>G (p.Thr834Ala) rs1943107956
NM_001099922.3(ALG13):c.2503G>A (p.Val835Ile) rs1943108263
NM_001099922.3(ALG13):c.2516A>G (p.Asn839Ser) rs1943109281
NM_001099922.3(ALG13):c.2519A>G (p.Tyr840Cys) rs1602807307
NM_001099922.3(ALG13):c.2520C>T (p.Tyr840=) rs1943109899
NM_001099922.3(ALG13):c.2523C>A (p.Pro841=)
NM_001099922.3(ALG13):c.2523C>G (p.Pro841=) rs1229717685
NM_001099922.3(ALG13):c.2529+12A>T
NM_001099922.3(ALG13):c.2529G>A (p.Lys843=)
NM_001099922.3(ALG13):c.2530-11C>T
NM_001099922.3(ALG13):c.2530-15C>T
NM_001099922.3(ALG13):c.2530-16T>C
NM_001099922.3(ALG13):c.2531T>C (p.Met844Thr) rs2148330955
NM_001099922.3(ALG13):c.2536G>A (p.Gly846Arg)
NM_001099922.3(ALG13):c.2547A>T (p.Ala849=)
NM_001099922.3(ALG13):c.2550A>C (p.Ala850=)
NM_001099922.3(ALG13):c.256T>A (p.Cys86Ser) rs1934564084
NM_001099922.3(ALG13):c.2570A>G (p.Asn857Ser) rs1556516921
NM_001099922.3(ALG13):c.2578C>G (p.Pro860Ala) rs2148331392
NM_001099922.3(ALG13):c.2582C>T (p.Ala861Val)
NM_001099922.3(ALG13):c.2587G>T (p.Val863Phe) rs1556516959
NM_001099922.3(ALG13):c.2591T>C (p.Leu864Ser) rs1408463417
NM_001099922.3(ALG13):c.2594C>T (p.Ser865Phe) rs755213977
NM_001099922.3(ALG13):c.2598C>T (p.Asn866=)
NM_001099922.3(ALG13):c.261G>A (p.Leu87=)
NM_001099922.3(ALG13):c.2623A>G (p.Ser875Gly)
NM_001099922.3(ALG13):c.2624G>A (p.Ser875Asn) rs757522953
NM_001099922.3(ALG13):c.2635G>C (p.Val879Leu) rs2148332060
NM_001099922.3(ALG13):c.2639C>A (p.Ser880Tyr) rs1556517088
NM_001099922.3(ALG13):c.2650_2652dup (p.Ala884dup) rs1276026793
NM_001099922.3(ALG13):c.2651C>T (p.Ala884Val) rs1556517111
NM_001099922.3(ALG13):c.2668G>C (p.Val890Leu)
NM_001099922.3(ALG13):c.2670A>G (p.Val890=)
NM_001099922.3(ALG13):c.2677C>T (p.Pro893Ser)
NM_001099922.3(ALG13):c.2680A>G (p.Thr894Ala)
NM_001099922.3(ALG13):c.2687G>A (p.Gly896Asp)
NM_001099922.3(ALG13):c.268C>T (p.Leu90=)
NM_001099922.3(ALG13):c.2695+15G>A
NM_001099922.3(ALG13):c.2695+16A>C
NM_001099922.3(ALG13):c.2695+9T>C
NM_001099922.3(ALG13):c.2696-19T>C rs2148402568
NM_001099922.3(ALG13):c.2705C>T (p.Ser902Leu)
NM_001099922.3(ALG13):c.2714A>G (p.Tyr905Cys)
NM_001099922.3(ALG13):c.2731A>G (p.Ile911Val)
NM_001099922.3(ALG13):c.2748C>G (p.Ala916=)
NM_001099922.3(ALG13):c.2753T>C (p.Leu918Pro)
NM_001099922.3(ALG13):c.2754ACC[10] (p.Pro941_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[11] (p.Pro942_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[12] (p.Pro943_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[13] (p.Pro944_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2754ACC[18] (p.Pro943_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2754ACC[19] (p.Pro942_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2754ACC[21] (p.Pro940_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2754ACC[7] (p.Pro938_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[9] (p.Pro940_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2755C>A (p.Pro919Thr) rs1944061818
NM_001099922.3(ALG13):c.2756C>A (p.Pro919Gln)
NM_001099922.3(ALG13):c.2756C>T (p.Pro919Leu)
NM_001099922.3(ALG13):c.2757A>C (p.Pro919=) rs2148403524
NM_001099922.3(ALG13):c.2758C>T (p.Pro920Ser)
NM_001099922.3(ALG13):c.2760A>C (p.Pro920=)
NM_001099922.3(ALG13):c.2760A>G (p.Pro920=) rs2148403613
NM_001099922.3(ALG13):c.2763A>C (p.Pro921=) rs1602887961
NM_001099922.3(ALG13):c.2766A>C (p.Pro922=) rs1944064025
NM_001099922.3(ALG13):c.2766A>G (p.Pro922=)
NM_001099922.3(ALG13):c.2768C>A (p.Pro923Gln)
NM_001099922.3(ALG13):c.2768C>T (p.Pro923Leu) rs1047232159
NM_001099922.3(ALG13):c.2769A>C (p.Pro923=) rs1602888164
NM_001099922.3(ALG13):c.2772A>C (p.Pro924=) rs1204623641
NM_001099922.3(ALG13):c.2772A>G (p.Pro924=)
NM_001099922.3(ALG13):c.2775A>C (p.Pro925=) rs1285221362
NM_001099922.3(ALG13):c.2778A>C (p.Pro926=) rs1218547242
NM_001099922.3(ALG13):c.2781A>C (p.Pro927=) rs147870070
NM_001099922.3(ALG13):c.2783C>T (p.Pro928Leu)
NM_001099922.3(ALG13):c.2784A>C (p.Pro928=) rs1602888630
NM_001099922.3(ALG13):c.2787A>C (p.Pro929=) rs772431643
NM_001099922.3(ALG13):c.2790A>C (p.Pro930=) rs1602888750
NM_001099922.3(ALG13):c.2790A>G (p.Pro930=)
NM_001099922.3(ALG13):c.2790A>T (p.Pro930=)
NM_001099922.3(ALG13):c.2790_2801del (p.Pro942_Pro945del) rs1944071710
NM_001099922.3(ALG13):c.2792C>T (p.Pro931Leu)
NM_001099922.3(ALG13):c.2792_2793insTCC (p.Pro945_Ala946insPro)
NM_001099922.3(ALG13):c.2793A>C (p.Pro931=) rs1325128061
NM_001099922.3(ALG13):c.2793A>T (p.Pro931=)
NM_001099922.3(ALG13):c.2793_2801del (p.Pro943_Pro945del) rs1944073301
NM_001099922.3(ALG13):c.2793_2801dup (p.Pro945_Ala946insProProPro)
NM_001099922.3(ALG13):c.2795C>A (p.Pro932Gln) rs773392173
NM_001099922.3(ALG13):c.2795C>T (p.Pro932Leu) rs773392173
NM_001099922.3(ALG13):c.2795_2796insTCC (p.Pro945dup) rs1944074283
NM_001099922.3(ALG13):c.2796A>C (p.Pro932=)
NM_001099922.3(ALG13):c.2796_2801del (p.Pro944_Pro945del) rs1468160803
NM_001099922.3(ALG13):c.2796_2804del (p.Pro943_Pro945del) rs2148404715
NM_001099922.3(ALG13):c.2796_2807del (p.Pro942_Pro945del)
NM_001099922.3(ALG13):c.2796_2810del (p.Pro941_Pro945del)
NM_001099922.3(ALG13):c.2797CCT[10] (p.Pro943_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup) rs56717389
NM_001099922.3(ALG13):c.2797CCT[15] (p.Pro944_Pro945dup) rs56717389
NM_001099922.3(ALG13):c.2797CCT[16] (p.Pro943_Pro945dup) rs56717389
NM_001099922.3(ALG13):c.2797CCT[5] (p.Pro938_Pro945del)
NM_001099922.3(ALG13):c.2797CCT[6] (p.Pro939_Pro945del)
NM_001099922.3(ALG13):c.2797CCT[7] (p.Pro940_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[8] (p.Pro941_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[9] (p.Pro942_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797_2798insGAC (p.Pro932_Pro933insArg)
NM_001099922.3(ALG13):c.2798_2799insACCACCACCACCACCACCTCC (p.Pro945_Ala946insProProProProProProPro)
NM_001099922.3(ALG13):c.2798_2799insACCACCACCTCC (p.Pro942_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2798_2799insACCACCACCTCCTCC (p.Pro945_Ala946insProProProProPro)
NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2798_2799insACCTCC (p.Pro944_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2798_2799insACCTCCTCC (p.Pro943_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2799T>C (p.Pro933=)
NM_001099922.3(ALG13):c.27G>A (p.Gly9=)
NM_001099922.3(ALG13):c.2801C>T (p.Pro934Leu) rs2148405253
NM_001099922.3(ALG13):c.2802T>C (p.Pro934=)
NM_001099922.3(ALG13):c.2809C>G (p.Pro937Ala) rs1358741065
NM_001099922.3(ALG13):c.280A>G (p.Lys94Glu) rs867599353
NM_001099922.3(ALG13):c.2814T>A (p.Pro938=)
NM_001099922.3(ALG13):c.2815C>T (p.Pro939Ser)
NM_001099922.3(ALG13):c.2818C>A (p.Pro940Thr)
NM_001099922.3(ALG13):c.2820T>A (p.Pro940=)
NM_001099922.3(ALG13):c.2820T>G (p.Pro940=) rs765365972
NM_001099922.3(ALG13):c.2821_2841del (p.Pro941_Leu947del)
NM_001099922.3(ALG13):c.2827C>G (p.Pro943Ala) rs887315764
NM_001099922.3(ALG13):c.2827C>T (p.Pro943Ser)
NM_001099922.3(ALG13):c.2828_2839del (p.Pro943_Ala946del) rs1569522062
NM_001099922.3(ALG13):c.2831_2839del (p.Pro944_Ala946del) rs1944088858
NM_001099922.3(ALG13):c.2835T>C (p.Pro945=)
NM_001099922.3(ALG13):c.2845G>A (p.Val949Met)
NM_001099922.3(ALG13):c.284C>T (p.Pro95Leu) rs2147692312
NM_001099922.3(ALG13):c.2860A>G (p.Asn954Asp)
NM_001099922.3(ALG13):c.2866C>G (p.Gln956Glu)
NM_001099922.3(ALG13):c.286C>T (p.Leu96Phe)
NM_001099922.3(ALG13):c.2870CAC[5] (p.Pro960dup) rs771610606
NM_001099922.3(ALG13):c.2874A>G (p.Pro958=)
NM_001099922.3(ALG13):c.2874_2888del (p.Leu961_Pro965del) rs746614953
NM_001099922.3(ALG13):c.2877A>G (p.Pro959=)
NM_001099922.3(ALG13):c.2883A>G (p.Leu961=) rs370500067
NM_001099922.3(ALG13):c.2887C>T (p.Pro963Ser) rs771778284
NM_001099922.3(ALG13):c.2888C>T (p.Pro963Leu)
NM_001099922.3(ALG13):c.288C>G (p.Leu96=)
NM_001099922.3(ALG13):c.2892A>G (p.Pro964=) rs1556523067
NM_001099922.3(ALG13):c.2910A>G (p.Pro970=)
NM_001099922.3(ALG13):c.2912G>A (p.Ser971Asn) rs2148407042
NM_001099922.3(ALG13):c.2932+16G>A
NM_001099922.3(ALG13):c.2932+16_2932+30del
NM_001099922.3(ALG13):c.2932+19T>G
NM_001099922.3(ALG13):c.2932+22_2932+41del
NM_001099922.3(ALG13):c.2932+6_2932+7insC
NM_001099922.3(ALG13):c.2932+8G>T
NM_001099922.3(ALG13):c.2932+9_2932+10insCGCTTTTT
NM_001099922.3(ALG13):c.2933-15G>C
NM_001099922.3(ALG13):c.294G>T (p.Val98=)
NM_001099922.3(ALG13):c.2967A>G (p.Gly989=) rs1944879675
NM_001099922.3(ALG13):c.2973+9C>T
NM_001099922.3(ALG13):c.2974-10C>T rs1426077854
NM_001099922.3(ALG13):c.2974-17G>A
NM_001099922.3(ALG13):c.2974-4C>T
NM_001099922.3(ALG13):c.2983C>A (p.His995Asn) rs1945383559
NM_001099922.3(ALG13):c.2987G>A (p.Ser996Asn)
NM_001099922.3(ALG13):c.298A>G (p.Ile100Val)
NM_001099922.3(ALG13):c.2991C>T (p.Tyr997=)
NM_001099922.3(ALG13):c.3012G>A (p.Val1004=)
NM_001099922.3(ALG13):c.3013C>T (p.Pro1005Ser) rs1945385727
NM_001099922.3(ALG13):c.3015A>T (p.Pro1005=)
NM_001099922.3(ALG13):c.3023AGC[2] (p.Gln1010del) rs770600982
NM_001099922.3(ALG13):c.3035A>C (p.His1012Pro)
NM_001099922.3(ALG13):c.3037G>A (p.Val1013Ile)
NM_001099922.3(ALG13):c.3048T>C (p.Tyr1016=)
NM_001099922.3(ALG13):c.3054C>G (p.Val1018=)
NM_001099922.3(ALG13):c.3066A>G (p.Pro1022=)
NM_001099922.3(ALG13):c.3067C>T (p.Pro1023Ser) rs2148514193
NM_001099922.3(ALG13):c.3070C>T (p.Leu1024=)
NM_001099922.3(ALG13):c.3072G>C (p.Leu1024=)
NM_001099922.3(ALG13):c.3088C>A (p.Pro1030Thr) rs1156871693
NM_001099922.3(ALG13):c.3095G>A (p.Cys1032Tyr)
NM_001099922.3(ALG13):c.30C>T (p.Thr10=)
NM_001099922.3(ALG13):c.3105G>T (p.Glu1035Asp)
NM_001099922.3(ALG13):c.3108GAG[1] (p.Arg1038del)
NM_001099922.3(ALG13):c.3117A>G (p.Glu1039=) rs2148514625
NM_001099922.3(ALG13):c.3117A>T (p.Glu1039Asp) rs2148514625
NM_001099922.3(ALG13):c.3119A>G (p.Asp1040Gly) rs2148514658
NM_001099922.3(ALG13):c.3120T>C (p.Asp1040=) rs2148514681
NM_001099922.3(ALG13):c.3123C>T (p.Gly1041=)
NM_001099922.3(ALG13):c.3124A>G (p.Ile1042Val) rs2148514763
NM_001099922.3(ALG13):c.312G>C (p.Leu104Phe)
NM_001099922.3(ALG13):c.3131C>T (p.Ala1044Val)
NM_001099922.3(ALG13):c.3146A>G (p.Asn1049Ser)
NM_001099922.3(ALG13):c.3148+7G>A
NM_001099922.3(ALG13):c.3148+7G>C
NM_001099922.3(ALG13):c.3149-11C>T
NM_001099922.3(ALG13):c.3149-12C>T rs1603002604
NM_001099922.3(ALG13):c.3149-14A>G
NM_001099922.3(ALG13):c.3149-16A>G
NM_001099922.3(ALG13):c.3149-18A>G rs1340748910
NM_001099922.3(ALG13):c.3149-19T>C
NM_001099922.3(ALG13):c.3149-9T>C
NM_001099922.3(ALG13):c.314T>C (p.Met105Thr)
NM_001099922.3(ALG13):c.3156T>C (p.Phe1052=)
NM_001099922.3(ALG13):c.3158C>T (p.Pro1053Leu)
NM_001099922.3(ALG13):c.3181C>T (p.Pro1061Ser) rs1945590685
NM_001099922.3(ALG13):c.3182C>T (p.Pro1061Leu)
NM_001099922.3(ALG13):c.3184C>T (p.His1062Tyr) rs750471213
NM_001099922.3(ALG13):c.3195C>G (p.Val1065=)
NM_001099922.3(ALG13):c.3205G>A (p.Val1069Ile) rs2148530841
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile) rs398122394
NM_001099922.3(ALG13):c.3211T>G (p.Ser1071Ala) rs2148530883
NM_001099922.3(ALG13):c.3218C>G (p.Pro1073Arg)
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys) rs372990620
NM_001099922.3(ALG13):c.3221A>T (p.Tyr1074Phe) rs372990620
NM_001099922.3(ALG13):c.3251C>A (p.Ser1084Tyr) rs1945595856
NM_001099922.3(ALG13):c.3260C>T (p.Pro1087Leu) rs1945596491
NM_001099922.3(ALG13):c.3267G>A (p.Val1089=)
NM_001099922.3(ALG13):c.3279C>A (p.Ser1093=)
NM_001099922.3(ALG13):c.3281G>A (p.Cys1094Tyr)
NM_001099922.3(ALG13):c.3290C>T (p.Pro1097Leu)
NM_001099922.3(ALG13):c.3291C>G (p.Pro1097=) rs1329885117
NM_001099922.3(ALG13):c.3301G>T (p.Val1101Phe) rs1370248370
NM_001099922.3(ALG13):c.3321T>C (p.Gly1107=) rs2148531912
NM_001099922.3(ALG13):c.3324T>G (p.Ser1108=)
NM_001099922.3(ALG13):c.3327T>G (p.Ser1109=) rs2148532070
NM_001099922.3(ALG13):c.3330A>G (p.Gln1110=) rs761412613
NM_001099922.3(ALG13):c.3330A>T (p.Gln1110His)
NM_001099922.3(ALG13):c.3343A>G (p.Ile1115Val)
NM_001099922.3(ALG13):c.3347A>G (p.Asn1116Ser) rs1323383971
NM_001099922.3(ALG13):c.3349C>G (p.Pro1117Ala) rs1603004235
NM_001099922.3(ALG13):c.334C>T (p.Leu112=)
NM_001099922.3(ALG13):c.3372T>C (p.Ala1124=)
NM_001099922.3(ALG13):c.3391C>T (p.His1131Tyr)
NM_001099922.3(ALG13):c.3398T>A (p.Val1133Glu)
NM_001099922.3(ALG13):c.33C>G (p.Thr11=)
NM_001099922.3(ALG13):c.3400C>T (p.Pro1134Ser)
NM_001099922.3(ALG13):c.348A>G (p.Leu116=)
NM_001099922.3(ALG13):c.354A>G (p.Lys118=) rs1569510723
NM_001099922.3(ALG13):c.359G>A (p.Gly120Asp) rs1934591547
NM_001099922.3(ALG13):c.35G>A (p.Ser12Asn) rs2147593382
NM_001099922.3(ALG13):c.361C>T (p.His121Tyr)
NM_001099922.3(ALG13):c.362A>G (p.His121Arg)
NM_001099922.3(ALG13):c.36C>T (p.Ser12=)
NM_001099922.3(ALG13):c.372T>C (p.Tyr124=)
NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly) rs1556449735
NM_001099922.3(ALG13):c.377C>A (p.Thr126Asn)
NM_001099922.3(ALG13):c.382A>G (p.Arg128Gly) rs1934600580
NM_001099922.3(ALG13):c.383+13C>A
NM_001099922.3(ALG13):c.383+14_383+15del
NM_001099922.3(ALG13):c.383+16A>G rs2147695492
NM_001099922.3(ALG13):c.383+16ATT[2]
NM_001099922.3(ALG13):c.383+17T>C
NM_001099922.3(ALG13):c.383+2885G>A rs2147754268
NM_001099922.3(ALG13):c.383+8A>G
NM_001099922.3(ALG13):c.384-10_384-8del
NM_001099922.3(ALG13):c.384-12T>G
NM_001099922.3(ALG13):c.384-15C>T
NM_001099922.3(ALG13):c.384-17T>C
NM_001099922.3(ALG13):c.399T>C (p.Pro133=)
NM_001099922.3(ALG13):c.403C>G (p.Gln135Glu) rs1602635058
NM_001099922.3(ALG13):c.410A>G (p.Lys137Arg)
NM_001099922.3(ALG13):c.422C>T (p.Ser141Phe) rs1432301604
NM_001099922.3(ALG13):c.424G>A (p.Ala142Thr) rs1939098208
NM_001099922.3(ALG13):c.430G>A (p.Gly144Arg) rs1452792292
NM_001099922.3(ALG13):c.432G>A (p.Gly144=)
NM_001099922.3(ALG13):c.432G>C (p.Gly144=)
NM_001099922.3(ALG13):c.43G>T (p.Asp15Tyr) rs776133794
NM_001099922.3(ALG13):c.452C>T (p.Ala151Val) rs1060500008
NM_001099922.3(ALG13):c.453G>A (p.Ala151=)
NM_001099922.3(ALG13):c.461del (p.Thr153_Ser154insTer) rs964823190
NM_001099922.3(ALG13):c.463A>G (p.Thr155Ala)
NM_001099922.3(ALG13):c.463del (p.Thr155fs)
NM_001099922.3(ALG13):c.476_481del (p.Gly159_Leu160del) rs750251838
NM_001099922.3(ALG13):c.497C>G (p.Ser166Cys) rs2147996812
NM_001099922.3(ALG13):c.498C>T (p.Ser166=)
NM_001099922.3(ALG13):c.516A>G (p.Gln172=)
NM_001099922.3(ALG13):c.518C>G (p.Ala173Gly)
NM_001099922.3(ALG13):c.518C>T (p.Ala173Val) rs188589829
NM_001099922.3(ALG13):c.527C>T (p.Thr176Ile)
NM_001099922.3(ALG13):c.52_54dup (p.Ala18dup) rs1933041651
NM_001099922.3(ALG13):c.534C>T (p.Thr178=) rs2147997341
NM_001099922.3(ALG13):c.539C>T (p.Pro180Leu)
NM_001099922.3(ALG13):c.541A>T (p.Thr181Ser) rs774646647
NM_001099922.3(ALG13):c.554T>G (p.Leu185Arg) rs1939121243
NM_001099922.3(ALG13):c.563C>G (p.Ser188Cys) rs772044321
NM_001099922.3(ALG13):c.568C>T (p.His190Tyr) rs1939123103
NM_001099922.3(ALG13):c.592A>G (p.Thr198Ala)
NM_001099922.3(ALG13):c.593C>T (p.Thr198Ile)
NM_001099922.3(ALG13):c.594C>T (p.Thr198=) rs2147998048
NM_001099922.3(ALG13):c.597C>G (p.Pro199=)
NM_001099922.3(ALG13):c.597del (p.Thr200fs) rs2147998012
NM_001099922.3(ALG13):c.598A>G (p.Thr200Ala)
NM_001099922.3(ALG13):c.598_602del (p.Thr200fs) rs1939127665
NM_001099922.3(ALG13):c.60G>A (p.Val20=) rs2147594318
NM_001099922.3(ALG13):c.628A>C (p.Asn210His)
NM_001099922.3(ALG13):c.62C>G (p.Ser21Trp)
NM_001099922.3(ALG13):c.62C>T (p.Ser21Leu) rs1602457991
NM_001099922.3(ALG13):c.632A>G (p.Tyr211Cys) rs1556483387
NM_001099922.3(ALG13):c.646T>C (p.Ser216Pro) rs2147998626
NM_001099922.3(ALG13):c.649T>G (p.Leu217Val) rs2147998654
NM_001099922.3(ALG13):c.64G>A (p.Ala22Thr) rs1933048489
NM_001099922.3(ALG13):c.654T>G (p.Asn218Lys)
NM_001099922.3(ALG13):c.65C>A (p.Ala22Glu)
NM_001099922.3(ALG13):c.662C>T (p.Ser221Leu) rs1602636547
NM_001099922.3(ALG13):c.664A>G (p.Met222Val) rs766905095
NM_001099922.3(ALG13):c.66G>A (p.Ala22=)
NM_001099922.3(ALG13):c.681C>G (p.Gly227=) rs1939140318
NM_001099922.3(ALG13):c.683G>T (p.Ser228Ile) rs1186351490
NM_001099922.3(ALG13):c.684C>T (p.Ser228=)
NM_001099922.3(ALG13):c.69C>G (p.Pro23=)
NM_001099922.3(ALG13):c.716A>G (p.Asp239Gly) rs1939143318
NM_001099922.3(ALG13):c.729C>T (p.Leu243=)
NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn) rs1057522540
NM_001099922.3(ALG13):c.750+14A>G
NM_001099922.3(ALG13):c.750+16_750+17del
NM_001099922.3(ALG13):c.750+17T>C
NM_001099922.3(ALG13):c.750+6del
NM_001099922.3(ALG13):c.751-11C>T rs1569515614
NM_001099922.3(ALG13):c.751-19G>T rs2148005083
NM_001099922.3(ALG13):c.751-6T>C rs2148005349
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001099922.3(ALG13):c.751T>C (p.Leu251=)
NM_001099922.3(ALG13):c.756T>C (p.Phe252=) rs915629293
NM_001099922.3(ALG13):c.766G>T (p.Val256Phe)
NM_001099922.3(ALG13):c.770A>G (p.His257Arg)
NM_001099922.3(ALG13):c.774T>C (p.His258=)
NM_001099922.3(ALG13):c.792T>G (p.Ala264=)
NM_001099922.3(ALG13):c.795T>C (p.Cys265=) rs2148005716
NM_001099922.3(ALG13):c.801A>G (p.Ser267=)
NM_001099922.3(ALG13):c.805A>G (p.Met269Val)
NM_001099922.3(ALG13):c.81+13G>A
NM_001099922.3(ALG13):c.81+16G>A
NM_001099922.3(ALG13):c.81+18G>A
NM_001099922.3(ALG13):c.81+20A>C
NM_001099922.3(ALG13):c.81+7G>A
NM_001099922.3(ALG13):c.81+7G>T
NM_001099922.3(ALG13):c.81+9G>A
NM_001099922.3(ALG13):c.81+9G>T rs2147595118
NM_001099922.3(ALG13):c.812A>G (p.Glu271Gly)
NM_001099922.3(ALG13):c.818A>C (p.Gln273Pro)
NM_001099922.3(ALG13):c.82-10C>T
NM_001099922.3(ALG13):c.834+14A>G
NM_001099922.3(ALG13):c.834+14A>T
NM_001099922.3(ALG13):c.834+20del
NM_001099922.3(ALG13):c.834+8G>C
NM_001099922.3(ALG13):c.834T>A (p.Ser278=)
NM_001099922.3(ALG13):c.835-15G>C
NM_001099922.3(ALG13):c.837T>C (p.Tyr279=)
NM_001099922.3(ALG13):c.84A>G (p.Lys28=)
NM_001099922.3(ALG13):c.852T>G (p.Phe284Leu)
NM_001099922.3(ALG13):c.858A>C (p.Lys286Asn) rs1939806996
NM_001099922.3(ALG13):c.862C>G (p.Leu288Val)
NM_001099922.3(ALG13):c.869G>A (p.Arg290Gln) rs1939809151
NM_001099922.3(ALG13):c.870G>A (p.Arg290=)
NM_001099922.3(ALG13):c.871T>C (p.Leu291=)
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser) rs753556936
NM_001099922.3(ALG13):c.885+13A>G
NM_001099922.3(ALG13):c.885+16G>A
NM_001099922.3(ALG13):c.886-13T>C rs2148043429
NM_001099922.3(ALG13):c.886-15A>G rs2148043391
NM_001099922.3(ALG13):c.886-16C>T rs780688383
NM_001099922.3(ALG13):c.886-6G>A
NM_001099922.3(ALG13):c.886-7T>C rs1556488604
NM_001099922.3(ALG13):c.886-8A>T
NM_001099922.3(ALG13):c.887A>G (p.Glu296Gly) rs2148043587
NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys) rs372176416
NM_001099922.3(ALG13):c.88G>C (p.Glu30Gln) rs1933583293
NM_001099922.3(ALG13):c.890G>A (p.Ser297Asn) rs1939938682
NM_001099922.3(ALG13):c.894T>C (p.Ala298=)
NM_001099922.3(ALG13):c.89A>C (p.Glu30Ala)
NM_001099922.3(ALG13):c.918T>G (p.Leu306=)
NM_001099922.3(ALG13):c.923T>C (p.Leu308Pro)
NM_001099922.3(ALG13):c.92G>A (p.Ser31Asn)
NM_001099922.3(ALG13):c.932+13C>T
NM_001099922.3(ALG13):c.932+14T>C
NM_001099922.3(ALG13):c.932+16T>C
NM_001099922.3(ALG13):c.932+8A>G rs2148044353
NM_001099922.3(ALG13):c.933-20C>T
NM_001099922.3(ALG13):c.933-3T>C
NM_001099922.3(ALG13):c.933-7C>T rs2148052573
NM_001099922.3(ALG13):c.935G>T (p.Arg312Leu) rs1455053208
NM_001099922.3(ALG13):c.942C>G (p.Phe314Leu)
NM_001099922.3(ALG13):c.950A>T (p.Tyr317Phe)
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys) rs775191661
NM_001099922.3(ALG13):c.953G>A (p.Arg318His)
NM_001099922.3(ALG13):c.977A>G (p.Tyr326Cys) rs1940090808
NM_001099922.3(ALG13):c.984A>G (p.Thr328=)
NM_001099922.3(ALG13):c.999A>G (p.Glu333=)
NM_001204526.1:c.1_185del
NM_001367916.1(MAGT1):c.297C>G (p.Ile99Met)
NM_001367916.1(MAGT1):c.752C>T (p.Thr251Met)
NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter) rs1569547876
NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn) rs373260156
NM_001382.4(DPAGT1):c.*369A>G rs886047759
NM_001382.4(DPAGT1):c.*379G>T rs886047758
NM_001382.4(DPAGT1):c.*484T>C rs886047757
NM_001382.4(DPAGT1):c.-76G>T rs1946515312
NM_001382.4(DPAGT1):c.1004A>C (p.Lys335Thr) rs1946418638
NM_001382.4(DPAGT1):c.1005+1G>A
NM_001382.4(DPAGT1):c.1005+5C>T
NM_001382.4(DPAGT1):c.1005+6A>T rs1592225596
NM_001382.4(DPAGT1):c.1006-6C>T rs2134898608
NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala) rs1555207196
NM_001382.4(DPAGT1):c.1033G>A (p.Val345Ile)
NM_001382.4(DPAGT1):c.1036C>G (p.His346Asp) rs1592225374
NM_001382.4(DPAGT1):c.103C>T (p.His35Tyr)
NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=)
NM_001382.4(DPAGT1):c.1050T>G (p.Thr350=)
NM_001382.4(DPAGT1):c.1051G>A (p.Glu351Lys) rs1475939080
NM_001382.4(DPAGT1):c.1059T>G (p.Gly353=) rs1946413563
NM_001382.4(DPAGT1):c.1099C>G (p.Leu367Val) rs980077282
NM_001382.4(DPAGT1):c.1101A>T (p.Leu367=) rs1442358846
NM_001382.4(DPAGT1):c.1117C>T (p.Pro373Ser) rs1210999092
NM_001382.4(DPAGT1):c.1142T>C (p.Leu381Ser) rs2134897889
NM_001382.4(DPAGT1):c.1158G>A (p.Leu386=) rs2134897849
NM_001382.4(DPAGT1):c.1161+15C>T rs775825050
NM_001382.4(DPAGT1):c.1161+18G>A
NM_001382.4(DPAGT1):c.1161+5G>A rs1946410970
NM_001382.4(DPAGT1):c.1161+9G>A rs1946410715
NM_001382.4(DPAGT1):c.1162-14A>G
NM_001382.4(DPAGT1):c.1162A>C (p.Ile388Leu) rs2134897349
NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=)
NM_001382.4(DPAGT1):c.1180A>C (p.Thr394Pro) rs2134897273
NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His)
NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter)
NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln)
NM_001382.4(DPAGT1):c.1219G>A (p.Asp407Asn) rs2134897091
NM_001382.4(DPAGT1):c.121C>A (p.Leu41Ile)
NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val)
NM_001382.4(DPAGT1):c.128G>T (p.Gly43Val) rs1946507643
NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp)
NM_001382.4(DPAGT1):c.160A>T (p.Ile54Phe)
NM_001382.4(DPAGT1):c.161+13A>G
NM_001382.4(DPAGT1):c.161+16C>T
NM_001382.4(DPAGT1):c.161+9C>T
NM_001382.4(DPAGT1):c.162-12G>A
NM_001382.4(DPAGT1):c.162-12G>C
NM_001382.4(DPAGT1):c.162-15G>A
NM_001382.4(DPAGT1):c.162-16T>C rs2134916538
NM_001382.4(DPAGT1):c.162-18C>G rs764930301
NM_001382.4(DPAGT1):c.162-18C>T
NM_001382.4(DPAGT1):c.162-20C>G rs749879111
NM_001382.4(DPAGT1):c.163C>G (p.Pro55Ala)
NM_001382.4(DPAGT1):c.170C>T (p.Ser57Phe)
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser) rs1565766177
NM_001382.4(DPAGT1):c.206T>A (p.Ile69Asn) rs397514586
NM_001382.4(DPAGT1):c.215G>A (p.Cys72Tyr) rs1274896616
NM_001382.4(DPAGT1):c.222C>T (p.Ile74=)
NM_001382.4(DPAGT1):c.253G>A (p.Glu85Lys) rs781224323
NM_001382.4(DPAGT1):c.274C>G (p.His92Asp)
NM_001382.4(DPAGT1):c.276C>T (p.His92=) rs931405073
NM_001382.4(DPAGT1):c.282+12C>T
NM_001382.4(DPAGT1):c.282+17G>A rs1236626939
NM_001382.4(DPAGT1):c.282+20T>C
NM_001382.4(DPAGT1):c.283-13G>A
NM_001382.4(DPAGT1):c.283-17G>A
NM_001382.4(DPAGT1):c.283-3C>A
NM_001382.4(DPAGT1):c.283-5C>T
NM_001382.4(DPAGT1):c.285T>C (p.Phe95=)
NM_001382.4(DPAGT1):c.286G>T (p.Val96Leu)
NM_001382.4(DPAGT1):c.335G>T (p.Gly112Val) rs1946489072
NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly) rs397515327
NM_001382.4(DPAGT1):c.342G>C (p.Ala114=)
NM_001382.4(DPAGT1):c.348T>C (p.Asp116=) rs200885014
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile) rs387907243
NM_001382.4(DPAGT1):c.352C>G (p.Leu118Val) rs398123609
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter) rs1315559074
NM_001382.4(DPAGT1):c.400C>G (p.Leu134Val) rs1946487222
NM_001382.4(DPAGT1):c.404C>T (p.Pro135Leu) rs2134913441
NM_001382.4(DPAGT1):c.406C>A (p.Leu136Ile) rs1946487020
NM_001382.4(DPAGT1):c.41A>G (p.Asn14Ser) rs373044813
NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu) rs1403883479
NM_001382.4(DPAGT1):c.425C>G (p.Thr142Ser)
NM_001382.4(DPAGT1):c.428A>G (p.Asn143Ser)
NM_001382.4(DPAGT1):c.441G>A (p.Thr147=)
NM_001382.4(DPAGT1):c.444C>T (p.Thr148=)
NM_001382.4(DPAGT1):c.448G>A (p.Val150Met) rs1555207796
NM_001382.4(DPAGT1):c.452T>A (p.Val151Glu)
NM_001382.4(DPAGT1):c.453G>A (p.Val151=)
NM_001382.4(DPAGT1):c.457A>C (p.Lys153Gln) rs1946485389
NM_001382.4(DPAGT1):c.462C>T (p.Pro154=)
NM_001382.4(DPAGT1):c.463T>G (p.Phe155Val) rs766131005
NM_001382.4(DPAGT1):c.466C>A (p.Arg156Ser)
NM_001382.4(DPAGT1):c.48C>T (p.Ile16=) rs1020413992
NM_001382.4(DPAGT1):c.497-4G>A rs771175893
NM_001382.4(DPAGT1):c.497-4G>C rs771175893
NM_001382.4(DPAGT1):c.503T>C (p.Leu168Pro) rs397515329
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser) rs768464558
NM_001382.4(DPAGT1):c.574G>C (p.Gly192Arg) rs768464558
NM_001382.4(DPAGT1):c.575G>T (p.Gly192Val) rs2134911057
NM_001382.4(DPAGT1):c.592T>A (p.Ser198Thr)
NM_001382.4(DPAGT1):c.637T>C (p.Leu213=)
NM_001382.4(DPAGT1):c.643+17G>C
NM_001382.4(DPAGT1):c.643+1G>A rs2134910617
NM_001382.4(DPAGT1):c.644-12T>G
NM_001382.4(DPAGT1):c.644-18_644-15del rs750678639
NM_001382.4(DPAGT1):c.644-1G>T rs2134903748
NM_001382.4(DPAGT1):c.645T>C (p.Gly215=) rs2134903738
NM_001382.4(DPAGT1):c.660T>G (p.Asp220Glu) rs1386440899
NM_001382.4(DPAGT1):c.663T>C (p.His221=) rs755080683
NM_001382.4(DPAGT1):c.669T>C (p.Phe223=)
NM_001382.4(DPAGT1):c.678C>T (p.Tyr226=) rs1592226752
NM_001382.4(DPAGT1):c.681C>G (p.Phe227Leu)
NM_001382.4(DPAGT1):c.691T>C (p.Phe231Leu)
NM_001382.4(DPAGT1):c.693T>C (p.Phe231=)
NM_001382.4(DPAGT1):c.695T>C (p.Phe232Ser) rs1221039307
NM_001382.4(DPAGT1):c.698T>C (p.Phe233Ser) rs1450090350
NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter) rs2134919748
NM_001382.4(DPAGT1):c.700A>G (p.Thr234Ala) rs2134903441
NM_001382.4(DPAGT1):c.710G>C (p.Gly237Ala)
NM_001382.4(DPAGT1):c.715C>T (p.Leu239Phe) rs765676413
NM_001382.4(DPAGT1):c.729-16C>G
NM_001382.4(DPAGT1):c.729-16C>T
NM_001382.4(DPAGT1):c.731A>G (p.Tyr244Cys)
NM_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)
NM_001382.4(DPAGT1):c.735A>G (p.Pro245=) rs1946429703
NM_001382.4(DPAGT1):c.744G>A (p.Val248=)
NM_001382.4(DPAGT1):c.750G>A (p.Val250=) rs2134901634
NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs) rs2134901573
NM_001382.4(DPAGT1):c.76G>A (p.Val26Ile)
NM_001382.4(DPAGT1):c.773C>A (p.Ala258Asp) rs780944148
NM_001382.4(DPAGT1):c.77T>C (p.Val26Ala)
NM_001382.4(DPAGT1):c.789C>T (p.Ala263=)
NM_001382.4(DPAGT1):c.79del (p.Thr27fs)
NM_001382.4(DPAGT1):c.810C>T (p.His270=) rs1946427343
NM_001382.4(DPAGT1):c.81C>G (p.Thr27=) rs145055477
NM_001382.4(DPAGT1):c.822C>T (p.Thr274=) rs756625547
NM_001382.4(DPAGT1):c.850T>C (p.Phe284Leu)
NM_001382.4(DPAGT1):c.859C>T (p.Leu287Phe) rs1946426502
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) rs397515328
NM_001382.4(DPAGT1):c.879C>T (p.Leu293=) rs1592226120
NM_001382.4(DPAGT1):c.888C>T (p.Ile296=)
NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser) rs1393162163
NM_001382.4(DPAGT1):c.908G>A (p.Arg303His) rs771322037
NM_001382.4(DPAGT1):c.908G>T (p.Arg303Leu)
NM_001382.4(DPAGT1):c.917+7G>A
NM_001382.4(DPAGT1):c.918-10C>A rs764154648
NM_001382.4(DPAGT1):c.918-15A>G
NM_001382.4(DPAGT1):c.930G>A (p.Lys310=) rs2134899492
NM_001382.4(DPAGT1):c.944A>G (p.Glu315Gly) rs1946419999
NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val) rs755527720
NM_001382.4(DPAGT1):c.993C>T (p.Thr331=) rs1946418951
NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)
NM_002435.3(MPI):c.*103T>C rs2064845890
NM_002435.3(MPI):c.*129G>C rs80226376
NM_002435.3(MPI):c.*176G>A rs886051484
NM_002435.3(MPI):c.*203G>A rs562995056
NM_002435.3(MPI):c.*205G>T rs2064847544
NM_002435.3(MPI):c.*393G>A rs886051485
NM_002435.3(MPI):c.-1_3del (p.Met1fs) rs1555478015
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.1017_1024delinsACCCCTT (p.Asp339fs)
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.1023del (p.Val342fs) rs1555479441
NM_002435.3(MPI):c.1032C>G (p.Asp344Glu) rs2064831979
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.1053+6_1053+9del rs1279545559
NM_002435.3(MPI):c.1054-11T>C
NM_002435.3(MPI):c.1054-17_1054-15del
NM_002435.3(MPI):c.1054-34_1054-11del rs1555479532
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.1054del rs752976348
NM_002435.3(MPI):c.1058del (p.Pro353fs)
NM_002435.3(MPI):c.1061G>A (p.Gly354Asp)
NM_002435.3(MPI):c.1062C>T (p.Gly354=)
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs) rs2064839839
NM_002435.3(MPI):c.1069A>G (p.Thr357Ala) rs2064840019
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.1124G>A (p.Gly375Glu) rs2064840907
NM_002435.3(MPI):c.1127_1128del (p.Thr376fs)
NM_002435.3(MPI):c.1134del (p.Ile378fs)
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.1205A>G (p.Glu402Gly) rs863225086
NM_002435.3(MPI):c.1207A>T (p.Ser403Cys)
NM_002435.3(MPI):c.120del (p.Ile40fs) rs1057516466
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.1260C>A (p.Cys420Ter) rs1555479632
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.138del (p.Pro45_Tyr46insTer)
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.145-1G>A rs1057516573
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+1G>A
NM_002435.3(MPI):c.16+1G>T
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.169G>A (p.Gly57Arg) rs1225376562
NM_002435.3(MPI):c.17-12C>G
NM_002435.3(MPI):c.17-13T>C
NM_002435.3(MPI):c.17-2A>G
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.199dup (p.Ser67fs)
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.251C>A (p.Ser84Ter)
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.319del (p.Leu107fs)
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+1G>A rs1555478333
NM_002435.3(MPI):c.346-10C>G
NM_002435.3(MPI):c.346-12G>A
NM_002435.3(MPI):c.346-15C>T
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.391G>A (p.Asp131Asn)
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.413T>C (p.Met138Thr) rs104894495
NM_002435.3(MPI):c.417C>T (p.Ala139=)
NM_002435.3(MPI):c.419T>C (p.Ile140Thr)
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.432del (p.Phe145fs)
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.445T>C (p.Cys149Arg) rs2064746068
NM_002435.3(MPI):c.44del (p.Gln15fs)
NM_002435.3(MPI):c.455G>A (p.Arg152Gln)
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+1G>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.488-1G>A rs759579169
NM_002435.3(MPI):c.488-5T>C rs2141200247
NM_002435.3(MPI):c.490del (p.Val164fs)
NM_002435.3(MPI):c.492G>A (p.Val164=) rs2141200277
NM_002435.3(MPI):c.497_498del (p.Glu166fs) rs2141200280
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.530dup (p.His178fs)
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.535del (p.His178_Leu179insTer) rs1555478582
NM_002435.3(MPI):c.546C>T (p.Thr182=) rs2064752091
NM_002435.3(MPI):c.567T>C (p.Ala189=)
NM_002435.3(MPI):c.56_65del (p.Gly19fs)
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.629del (p.Val210fs) rs1555478606
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.672G>C (p.Ala224=) rs768186349
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>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.713del (p.Leu238fs) rs745432667
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.740del (p.Gly247fs) rs1057517115
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.764A>G (p.Tyr255Cys)
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.781A>G (p.Thr261Ala) rs2064816825
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.793G>A (p.Gly265Arg) rs2064817105
NM_002435.3(MPI):c.796G>A (p.Glu266Lys) rs1595822583
NM_002435.3(MPI):c.802_803del (p.Met268fs) rs1555479227
NM_002435.3(MPI):c.810G>A (p.Leu270=)
NM_002435.3(MPI):c.810G>C (p.Leu270=) rs2141206859
NM_002435.3(MPI):c.816C>G (p.Ala272=) rs2064817492
NM_002435.3(MPI):c.818delinsTC (p.Asn273fs)
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>C
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.845-20C>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.875_879dup (p.Val294fs)
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.89_113del (p.Leu30fs) rs1555478118
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.952_957del (p.Ser318_Ser319del) rs1555479384
NM_002435.3(MPI):c.95C>T (p.Ala32Val) rs1596440893
NM_002435.3(MPI):c.969C>G (p.Leu323=)
NM_002435.3(MPI):c.969_970del (p.Phe324fs)
NM_002435.3(MPI):c.973del (p.Leu325fs)
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.995A>T (p.Asp332Val)
NM_002435.3(MPI):c.996C>T (p.Asp332=) rs1042715923
NM_002633.3(PGM1):c.*231C>T rs886046483
NM_002633.3(PGM1):c.*388T>G rs1650077445
NM_002633.3(PGM1):c.*484G>A rs755055776
NM_002633.3(PGM1):c.*484G>C rs755055776
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) rs1553121290
NM_002633.3(PGM1):c.1019C>G (p.Ala340Gly)
NM_002633.3(PGM1):c.1028+13A>G
NM_002633.3(PGM1):c.1028+18C>T
NM_002633.3(PGM1):c.1029-19T>C
NM_002633.3(PGM1):c.1029-8C>G rs752232600
NM_002633.3(PGM1):c.1044A>C (p.Thr348=)
NM_002633.3(PGM1):c.1058A>G (p.Tyr353Cys)
NM_002633.3(PGM1):c.105C>T (p.Tyr35=)
NM_002633.3(PGM1):c.1065C>A (p.Thr355=) rs773677629
NM_002633.3(PGM1):c.1065C>T (p.Thr355=) rs773677629
NM_002633.3(PGM1):c.1067C>T (p.Pro356Leu)
NM_002633.3(PGM1):c.107C>A (p.Ala36Glu) rs146477640
NM_002633.3(PGM1):c.107C>T (p.Ala36Val)
NM_002633.3(PGM1):c.1081T>A (p.Phe361Ile)
NM_002633.3(PGM1):c.1083T>C (p.Phe361=)
NM_002633.3(PGM1):c.1086dup (p.Gly363fs) rs1170935238
NM_002633.3(PGM1):c.108G>A (p.Ala36=)
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.1106G>A (p.Ser369Asn)
NM_002633.3(PGM1):c.1115C>T (p.Ser372Phe)
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr) rs587777402
NM_002633.3(PGM1):c.1138G>A (p.Gly380Arg)
NM_002633.3(PGM1):c.1141A>G (p.Thr381Ala)
NM_002633.3(PGM1):c.1144G>A (p.Gly382Ser)
NM_002633.3(PGM1):c.1145-10C>T
NM_002633.3(PGM1):c.1145-11C>T
NM_002633.3(PGM1):c.1145-1G>C rs587776801
NM_002633.3(PGM1):c.1145-6C>G
NM_002633.3(PGM1):c.1145-6del rs2100998326
NM_002633.3(PGM1):c.1145-9C>G
NM_002633.3(PGM1):c.1191C>A (p.Ala397=)
NM_002633.3(PGM1):c.119T>C (p.Ile40Thr)
NM_002633.3(PGM1):c.119del (p.Ile40fs)
NM_002633.3(PGM1):c.1201A>G (p.Ile401Val) rs760318393
NM_002633.3(PGM1):c.1204C>G (p.Leu402Val)
NM_002633.3(PGM1):c.1206A>C (p.Leu402=) rs2100998429
NM_002633.3(PGM1):c.1209C>A (p.Ala403=)
NM_002633.3(PGM1):c.120C>G (p.Ile40Met)
NM_002633.3(PGM1):c.1213C>A (p.Arg405Ser) rs754131603
NM_002633.3(PGM1):c.1233C>T (p.Asp411=)
NM_002633.3(PGM1):c.1234A>C (p.Ile412Leu) rs567337429
NM_002633.3(PGM1):c.1239C>T (p.Leu413=)
NM_002633.3(PGM1):c.123G>A (p.Gln41=)
NM_002633.3(PGM1):c.1254A>G (p.Gln418=)
NM_002633.3(PGM1):c.125G>A (p.Ser42Asn) rs374207269
NM_002633.3(PGM1):c.1280+12C>T
NM_002633.3(PGM1):c.1280+22dup
NM_002633.3(PGM1):c.1281-14G>A
NM_002633.3(PGM1):c.1281-15C>T
NM_002633.3(PGM1):c.1281-17T>A
NM_002633.3(PGM1):c.1281-2A>G rs1649810314
NM_002633.3(PGM1):c.1281-5T>C
NM_002633.3(PGM1):c.1291G>A (p.Glu431Lys)
NM_002633.3(PGM1):c.1293G>A (p.Glu431=)
NM_002633.3(PGM1):c.1299G>A (p.Val433=)
NM_002633.3(PGM1):c.129C>T (p.Ile43=)
NM_002633.3(PGM1):c.1312G>A (p.Ala438Thr)
NM_002633.3(PGM1):c.134C>T (p.Ser45Phe)
NM_002633.3(PGM1):c.1358C>G (p.Ser453Cys)
NM_002633.3(PGM1):c.1371G>A (p.Lys457=)
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs) rs763428801
NM_002633.3(PGM1):c.1394T>A (p.Val465Asp)
NM_002633.3(PGM1):c.1401T>A (p.Thr467=)
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr) rs148979330
NM_002633.3(PGM1):c.1413C>T (p.Ala471=)
NM_002633.3(PGM1):c.1422T>C (p.Phe474=)
NM_002633.3(PGM1):c.1431C>T (p.Ser477=)
NM_002633.3(PGM1):c.1455A>G (p.Ser485=)
NM_002633.3(PGM1):c.1464+14G>A rs2269238
NM_002633.3(PGM1):c.1464+14_1464+15delinsTA
NM_002633.3(PGM1):c.1464+15G>A rs748510501
NM_002633.3(PGM1):c.1464+19G>C
NM_002633.3(PGM1):c.1464+9A>T
NM_002633.3(PGM1):c.1465-16_1465-15del
NM_002633.3(PGM1):c.1474del (p.Leu492fs) rs1376645472
NM_002633.3(PGM1):c.1496G>A (p.Arg499Gln) rs770023140
NM_002633.3(PGM1):c.1500del (p.Ile500fs)
NM_002633.3(PGM1):c.1523G>A (p.Gly508Glu)
NM_002633.3(PGM1):c.1524G>T (p.Gly508=)
NM_002633.3(PGM1):c.152A>G (p.Gln51Arg)
NM_002633.3(PGM1):c.1530C>T (p.Ala510=)
NM_002633.3(PGM1):c.1538C>T (p.Thr513Ile)
NM_002633.3(PGM1):c.1540A>G (p.Ile514Val) rs1649904020
NM_002633.3(PGM1):c.1555G>A (p.Asp519Asn)
NM_002633.3(PGM1):c.155G>A (p.Arg52Gln) rs377179134
NM_002633.3(PGM1):c.156G>C (p.Arg52=)
NM_002633.3(PGM1):c.1573G>A (p.Val525Ile)
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs) rs1647935062
NM_002633.3(PGM1):c.1585A>T (p.Asn529Tyr)
NM_002633.3(PGM1):c.1599+5C>T
NM_002633.3(PGM1):c.1599+6G>A
NM_002633.3(PGM1):c.1599+6G>T
NM_002633.3(PGM1):c.1600-13A>G
NM_002633.3(PGM1):c.1600-15C>G
NM_002633.3(PGM1):c.1600-523G>A
NM_002633.3(PGM1):c.1664G>A (p.Arg555His)
NM_002633.3(PGM1):c.1668T>A (p.Thr556=)
NM_002633.3(PGM1):c.1668T>G (p.Thr556=) rs752885355
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile) rs1650066188
NM_002633.3(PGM1):c.168G>C (p.Thr56=)
NM_002633.3(PGM1):c.171G>A (p.Leu57=)
NM_002633.3(PGM1):c.180C>T (p.Gly60=)
NM_002633.3(PGM1):c.184G>C (p.Asp62His) rs587777403
NM_002633.3(PGM1):c.199A>G (p.Met67Val) rs561236041
NM_002633.3(PGM1):c.203A>T (p.Lys68Met)
NM_002633.3(PGM1):c.216G>C (p.Gln72His) rs1280037054
NM_002633.3(PGM1):c.243C>T (p.Asn81=)
NM_002633.3(PGM1):c.244G>T (p.Gly82Trp) rs199928376
NM_002633.3(PGM1):c.246+11C>T
NM_002633.3(PGM1):c.246+20_246+21delinsAA
NM_002633.3(PGM1):c.246+8A>G
NM_002633.3(PGM1):c.246G>A (p.Gly82=)
NM_002633.3(PGM1):c.247-5C>T rs1649127861
NM_002633.3(PGM1):c.247-7C>T rs1570493471
NM_002633.3(PGM1):c.249C>A (p.Ile83=) rs140086116
NM_002633.3(PGM1):c.249C>T (p.Ile83=) rs140086116
NM_002633.3(PGM1):c.24G>T (p.Lys8Asn)
NM_002633.3(PGM1):c.261T>C (p.Val87=)
NM_002633.3(PGM1):c.265_266delinsTT (p.Gly89Leu)
NM_002633.3(PGM1):c.282C>G (p.Leu94=)
NM_002633.3(PGM1):c.28_37del (p.Gln10fs) rs759220275
NM_002633.3(PGM1):c.300C>G (p.Ser100=)
NM_002633.3(PGM1):c.322G>A (p.Ala108Thr) rs1356647959
NM_002633.3(PGM1):c.326T>C (p.Ile109Thr)
NM_002633.3(PGM1):c.336C>T (p.Ile112=)
NM_002633.3(PGM1):c.357C>T (p.Asn119=)
NM_002633.3(PGM1):c.360A>G (p.Pro120=)
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg) rs398122912
NM_002633.3(PGM1):c.38A>C (p.Gln13Pro)
NM_002633.3(PGM1):c.399T>A (p.Ile133=)
NM_002633.3(PGM1):c.409+12G>C
NM_002633.3(PGM1):c.409+6T>C rs2100982034
NM_002633.3(PGM1):c.410-11T>C
NM_002633.3(PGM1):c.410-13G>C
NM_002633.3(PGM1):c.410-18T>C
NM_002633.3(PGM1):c.414T>C (p.Pro138=)
NM_002633.3(PGM1):c.414T>G (p.Pro138=)
NM_002633.3(PGM1):c.423del (p.Ala142fs) rs2100982320
NM_002633.3(PGM1):c.42C>T (p.Asp14=)
NM_002633.3(PGM1):c.460A>G (p.Ile154Val)
NM_002633.3(PGM1):c.463G>A (p.Glu155Lys)
NM_002633.3(PGM1):c.48G>A (p.Lys16=)
NM_002633.3(PGM1):c.511G>T (p.Gly171Ter)
NM_002633.3(PGM1):c.512G>A (p.Gly171Glu)
NM_002633.3(PGM1):c.51G>C (p.Pro17=)
NM_002633.3(PGM1):c.540G>A (p.Lys180=)
NM_002633.3(PGM1):c.556+3A>G
NM_002633.3(PGM1):c.557-11del
NM_002633.3(PGM1):c.557-5C>T rs2100983821
NM_002633.3(PGM1):c.557-5del
NM_002633.3(PGM1):c.574G>A (p.Val192Ile)
NM_002633.3(PGM1):c.5T>G (p.Val2Gly)
NM_002633.3(PGM1):c.602G>T (p.Ser201Ile)
NM_002633.3(PGM1):c.606C>G (p.Ile202Met)
NM_002633.3(PGM1):c.60C>T (p.Ser20=)
NM_002633.3(PGM1):c.618T>C (p.Ser206=)
NM_002633.3(PGM1):c.648C>T (p.Asn216=)
NM_002633.3(PGM1):c.661del (p.Arg221fs) rs587777405
NM_002633.3(PGM1):c.666T>C (p.Ile222=)
NM_002633.3(PGM1):c.682+20C>T
NM_002633.3(PGM1):c.683-6A>G
NM_002633.3(PGM1):c.689G>A (p.Gly230Glu)
NM_002633.3(PGM1):c.689dup (p.Pro231fs)
NM_002633.3(PGM1):c.696T>C (p.Tyr232=) rs886046480
NM_002633.3(PGM1):c.696_699del (p.Pro231_Tyr232insTer)
NM_002633.3(PGM1):c.723C>G (p.Leu241=)
NM_002633.3(PGM1):c.723C>T (p.Leu241=)
NM_002633.3(PGM1):c.729C>T (p.Ala243=)
NM_002633.3(PGM1):c.741G>A (p.Ser247=) rs142222746
NM_002633.3(PGM1):c.741G>C (p.Ser247=) rs142222746
NM_002633.3(PGM1):c.753C>T (p.Cys251=)
NM_002633.3(PGM1):c.759T>C (p.Pro253=)
NM_002633.3(PGM1):c.770T>C (p.Phe257Ser)
NM_002633.3(PGM1):c.794A>G (p.Asn265Ser)
NM_002633.3(PGM1):c.801C>A (p.Thr267=)
NM_002633.3(PGM1):c.816G>C (p.Leu272=)
NM_002633.3(PGM1):c.821A>G (p.Glu274Gly)
NM_002633.3(PGM1):c.827T>G (p.Met276Arg) rs1649325171
NM_002633.3(PGM1):c.836G>A (p.Gly279Glu)
NM_002633.3(PGM1):c.838G>C (p.Glu280Gln)
NM_002633.3(PGM1):c.871G>A (p.Gly291Arg)
NM_002633.3(PGM1):c.873+10A>G
NM_002633.3(PGM1):c.873+5G>T
NM_002633.3(PGM1):c.873+7A>T rs1176093923
NM_002633.3(PGM1):c.874-5C>T
NM_002633.3(PGM1):c.874-6C>A
NM_002633.3(PGM1):c.874-7C>T rs2100988580
NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)
NM_002633.3(PGM1):c.87_88del (p.Phe29fs) rs1570463842
NM_002633.3(PGM1):c.87_94del (p.Phe29fs)
NM_002633.3(PGM1):c.903G>A (p.Gly301=)
NM_002633.3(PGM1):c.90G>A (p.Gln30=)
NM_002633.3(PGM1):c.91A>G (p.Ser31Gly) rs2100947698
NM_002633.3(PGM1):c.929T>C (p.Val310Ala)
NM_002633.3(PGM1):c.929_930del (p.Val310fs) rs2100988650
NM_002633.3(PGM1):c.946_997dup (p.Arg333fs)
NM_002633.3(PGM1):c.973C>A (p.Gln325Lys)
NM_002633.3(PGM1):c.97G>C (p.Ala33Pro)
NM_002633.3(PGM1):c.980G>T (p.Gly327Val)
NM_002633.3(PGM1):c.981G>A (p.Gly327=)
NM_003859.3(DPM1):c.*117A>G rs920558366
NM_003859.3(DPM1):c.109C>T (p.Arg37Cys) rs369939483
NM_003859.3(DPM1):c.10T>C (p.Leu4=)
NM_003859.3(DPM1):c.112G>A (p.Glu38Lys) rs767978019
NM_003859.3(DPM1):c.117C>T (p.Asn39=) rs1488509110
NM_003859.3(DPM1):c.122C>G (p.Pro41Arg) rs2123155224
NM_003859.3(DPM1):c.123G>A (p.Pro41=)
NM_003859.3(DPM1):c.123G>T (p.Pro41=) rs762396281
NM_003859.3(DPM1):c.127A>G (p.Ile43Val) rs769480044
NM_003859.3(DPM1):c.13G>C (p.Glu5Gln)
NM_003859.3(DPM1):c.142G>A (p.Val48Met) rs776470942
NM_003859.3(DPM1):c.152_154del (p.Phe51del)
NM_003859.3(DPM1):c.161+10C>T rs779869066
NM_003859.3(DPM1):c.161+16_161+21del rs2123154859
NM_003859.3(DPM1):c.161+20_161+22del
NM_003859.3(DPM1):c.162-3del rs1568774485
NM_003859.3(DPM1):c.16G>A (p.Val6Ile)
NM_003859.3(DPM1):c.173A>G (p.Tyr58Cys) rs1040795570
NM_003859.3(DPM1):c.173A>T (p.Tyr58Phe) rs1040795570
NM_003859.3(DPM1):c.173_174del (p.Asn57_Tyr58insTer) rs1350257432
NM_003859.3(DPM1):c.178A>T (p.Ile60Phe) rs1986768557
NM_003859.3(DPM1):c.182T>C (p.Ile61Thr)
NM_003859.3(DPM1):c.182del (p.Ile61fs)
NM_003859.3(DPM1):c.18C>A (p.Val6=)
NM_003859.3(DPM1):c.18C>G (p.Val6=) rs141104808
NM_003859.3(DPM1):c.18C>T (p.Val6=)
NM_003859.3(DPM1):c.1A>G (p.Met1Val) rs139624629
NM_003859.3(DPM1):c.22C>A (p.Arg8Ser)
NM_003859.3(DPM1):c.22C>G (p.Arg8Gly) rs201392536
NM_003859.3(DPM1):c.232T>C (p.Leu78=) rs1986765330
NM_003859.3(DPM1):c.235G>C (p.Glu79Gln) rs760351795
NM_003859.3(DPM1):c.254A>G (p.Asp85Gly) rs1364834319
NM_003859.3(DPM1):c.259A>G (p.Ile87Val) rs1986763754
NM_003859.3(DPM1):c.25A>G (p.Ser9Gly) rs17850343
NM_003859.3(DPM1):c.262-19C>A
NM_003859.3(DPM1):c.262-19C>T
NM_003859.3(DPM1):c.262-9T>C rs759423847
NM_003859.3(DPM1):c.267A>G (p.Leu89=)
NM_003859.3(DPM1):c.273A>G (p.Pro91=) rs766462970
NM_003859.3(DPM1):c.274C>G (p.Arg92Gly) rs121908583
NM_003859.3(DPM1):c.28C>A (p.Pro10Thr)
NM_003859.3(DPM1):c.295+6T>C
NM_003859.3(DPM1):c.295+8G>C rs758553918
NM_003859.3(DPM1):c.296-14A>C
NM_003859.3(DPM1):c.296-5T>C rs1986258168
NM_003859.3(DPM1):c.296-9C>A rs1986258505
NM_003859.3(DPM1):c.296-9C>G rs1986258505
NM_003859.3(DPM1):c.29C>G (p.Pro10Arg) rs755912457
NM_003859.3(DPM1):c.303A>G (p.Ala101=) rs139211110
NM_003859.3(DPM1):c.303A>T (p.Ala101=)
NM_003859.3(DPM1):c.30T>C (p.Pro10=)
NM_003859.3(DPM1):c.326C>T (p.Ala109Val) rs1986256273
NM_003859.3(DPM1):c.331_343del (p.Gly111fs) rs1272097668
NM_003859.3(DPM1):c.337T>A (p.Tyr113Asn) rs2123115865
NM_003859.3(DPM1):c.339CAT[1] (p.Ile116del)
NM_003859.3(DPM1):c.345T>C (p.Ile115=)
NM_003859.3(DPM1):c.355G>A (p.Ala119Thr) rs2123115788
NM_003859.3(DPM1):c.358G>C (p.Asp120His)
NM_003859.3(DPM1):c.35G>A (p.Arg12Lys) rs559291357
NM_003859.3(DPM1):c.368A>G (p.His123Arg)
NM_003859.3(DPM1):c.371A>G (p.His124Arg) rs2123115725
NM_003859.3(DPM1):c.372+12G>A
NM_003859.3(DPM1):c.373-5T>A rs587777115
NM_003859.3(DPM1):c.382A>G (p.Ile128Val)
NM_003859.3(DPM1):c.384T>C (p.Ile128=) rs1555822595
NM_003859.3(DPM1):c.385C>T (p.Pro129Ser) rs752831768
NM_003859.3(DPM1):c.38C>G (p.Ser13Cys)
NM_003859.3(DPM1):c.397A>C (p.Arg133=)
NM_003859.3(DPM1):c.398+20T>C
NM_003859.3(DPM1):c.399-13A>T
NM_003859.3(DPM1):c.406A>G (p.Lys136Glu)
NM_003859.3(DPM1):c.409G>A (p.Glu137Lys)
NM_003859.3(DPM1):c.409G>T (p.Glu137Ter) rs753780084
NM_003859.3(DPM1):c.414T>C (p.Gly138=) rs2123098264
NM_003859.3(DPM1):c.429C>T (p.Val143=)
NM_003859.3(DPM1):c.42G>T (p.Arg14=) rs2123155781
NM_003859.3(DPM1):c.439C>T (p.Arg147Cys) rs1225648834
NM_003859.3(DPM1):c.440G>A (p.Arg147His)
NM_003859.3(DPM1):c.448G>A (p.Gly150Arg)
NM_003859.3(DPM1):c.459T>C (p.Gly153=) rs1985885337
NM_003859.3(DPM1):c.459T>G (p.Gly153=)
NM_003859.3(DPM1):c.460G>A (p.Val154Ile)
NM_003859.3(DPM1):c.46G>A (p.Glu16Lys)
NM_003859.3(DPM1):c.473A>C (p.Asp158Ala) rs77532041
NM_003859.3(DPM1):c.477G>T (p.Leu159Phe)
NM_003859.3(DPM1):c.490_493del (p.Ile164fs) rs781115721
NM_003859.3(DPM1):c.494+16dup
NM_003859.3(DPM1):c.494+7A>G rs1441485408
NM_003859.3(DPM1):c.494+9A>C rs774832271
NM_003859.3(DPM1):c.494+9A>G
NM_003859.3(DPM1):c.495-15T>G
NM_003859.3(DPM1):c.495-18G>C
NM_003859.3(DPM1):c.495-1G>T
NM_003859.3(DPM1):c.496C>T (p.Arg166Cys) rs547949792
NM_003859.3(DPM1):c.515C>G (p.Thr172Ser) rs1985671191
NM_003859.3(DPM1):c.521T>G (p.Ile174Ser)
NM_003859.3(DPM1):c.527_533del (p.Leu176fs)
NM_003859.3(DPM1):c.52del (p.Glu18fs) rs759278634
NM_003859.3(DPM1):c.552A>C (p.Thr184=) rs1985668924
NM_003859.3(DPM1):c.564-24AT[3] rs759107587
NM_003859.3(DPM1):c.567A>G (p.Leu189=) rs897083759
NM_003859.3(DPM1):c.572G>A (p.Arg191Gln)
NM_003859.3(DPM1):c.579A>C (p.Glu193Asp) rs1601016907
NM_003859.3(DPM1):c.590A>C (p.Lys197Thr)
NM_003859.3(DPM1):c.605G>A (p.Cys202Tyr) rs528582693
NM_003859.3(DPM1):c.617G>C (p.Gly206Ala)
NM_003859.3(DPM1):c.617G>T (p.Gly206Val) rs760063295
NM_003859.3(DPM1):c.618C>T (p.Gly206=)
NM_003859.3(DPM1):c.620A>G (p.Tyr207Cys) rs1036628226
NM_003859.3(DPM1):c.621C>T (p.Tyr207=) rs1373039485
NM_003859.3(DPM1):c.628del (p.Gln210fs) rs1568757730
NM_003859.3(DPM1):c.62G>A (p.Ser21Asn)
NM_003859.3(DPM1):c.632T>C (p.Met211Thr)
NM_003859.3(DPM1):c.641T>C (p.Ile214Thr) rs1439856985
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr) rs1197456861
NM_003859.3(DPM1):c.656A>G (p.Gln219Arg) rs2123061416
NM_003859.3(DPM1):c.658T>C (p.Leu220=) rs17855394
NM_003859.3(DPM1):c.669T>C (p.Thr223=) rs561078570
NM_003859.3(DPM1):c.671T>A (p.Ile224Asn) rs2123061350
NM_003859.3(DPM1):c.678+15C>G rs2123061176
NM_003859.3(DPM1):c.678+18A>C rs2123061147
NM_003859.3(DPM1):c.678+1G>C rs1985138848
NM_003859.3(DPM1):c.678+6C>A
NM_003859.3(DPM1):c.678+9C>G rs749718528
NM_003859.3(DPM1):c.679-12T>G
NM_003859.3(DPM1):c.679-7_679-6insT rs11480415
NM_003859.3(DPM1):c.679-7_679-6insTT rs11480415
NM_003859.3(DPM1):c.679-7_679-6insTTT rs11480415
NM_003859.3(DPM1):c.679-8dup rs11483542
NM_003859.3(DPM1):c.679-9_679-8dup
NM_003859.3(DPM1):c.67C>A (p.Arg23=)
NM_003859.3(DPM1):c.67C>G (p.Arg23Gly)
NM_003859.3(DPM1):c.684A>C (p.Pro228=)
NM_003859.3(DPM1):c.688T>G (p.Ser230Ala) rs1985042327
NM_003859.3(DPM1):c.692T>C (p.Phe231Ser) rs2123056867
NM_003859.3(DPM1):c.698A>G (p.Asp233Gly) rs1411036424
NM_003859.3(DPM1):c.6C>T (p.Ala2=)
NM_003859.3(DPM1):c.702T>C (p.Arg234=) rs2123056796
NM_003859.3(DPM1):c.706T>C (p.Tyr236His) rs775589720
NM_003859.3(DPM1):c.70C>G (p.Gln24Glu)
NM_003859.3(DPM1):c.71A>G (p.Gln24Arg) rs1986960670
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro) rs587777114
NM_003859.3(DPM1):c.768T>C (p.Leu256=)
NM_003859.3(DPM1):c.84G>A (p.Ser28=) rs16995639
NM_003859.3(DPM1):c.87G>C (p.Val29=)
NM_003859.3(DPM1):c.94C>T (p.Pro32Ser)
NM_003859.3(DPM1):c.9C>T (p.Ser3=) rs150509150
NM_003863.3(DPM2):c.-267T>C rs1831540551
NM_003863.3(DPM2):c.-319G>A rs886063486
NM_003863.3(DPM2):c.-84G>A rs1831537719
NM_003863.4(DPM2):c.*124G>C rs1831491179
NM_003863.4(DPM2):c.*231C>T rs1831489245
NM_003863.4(DPM2):c.*404C>T rs1245531633
NM_003863.4(DPM2):c.*49G>T rs886063481
NM_003863.4(DPM2):c.*510A>G rs1831485679
NM_003863.4(DPM2):c.100A>G (p.Ile34Val)
NM_003863.4(DPM2):c.108_111del (p.Gln37fs) rs756881158
NM_003863.4(DPM2):c.109C>T (p.Gln37Ter)
NM_003863.4(DPM2):c.120C>T (p.Ile40=) rs1588689780
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter) rs549450795
NM_003863.4(DPM2):c.151G>A (p.Val51Ile) rs1831509385
NM_003863.4(DPM2):c.153C>A (p.Val51=)
NM_003863.4(DPM2):c.166_167delinsTT (p.Ala56Phe) rs2131648142
NM_003863.4(DPM2):c.16G>A (p.Asp6Asn) rs1564141716
NM_003863.4(DPM2):c.173G>A (p.Gly58Asp) rs1185338798
NM_003863.4(DPM2):c.178C>T (p.Leu60=) rs2131648105
NM_003863.4(DPM2):c.180G>A (p.Leu60=) rs2131648100
NM_003863.4(DPM2):c.196+12C>T
NM_003863.4(DPM2):c.196+13C>T
NM_003863.4(DPM2):c.196+18C>G
NM_003863.4(DPM2):c.196+19C>T rs769003503
NM_003863.4(DPM2):c.196+20C>T
NM_003863.4(DPM2):c.197G>A (p.Gly66Glu)
NM_003863.4(DPM2):c.208T>C (p.Ser70Pro) rs759597928
NM_003863.4(DPM2):c.212A>G (p.Tyr71Cys)
NM_003863.4(DPM2):c.212_213delinsGC (p.Tyr71Cys) rs1588689182
NM_003863.4(DPM2):c.213_214inv (p.Val72Met)
NM_003863.4(DPM2):c.229A>G (p.Lys77Glu) rs1831494309
NM_003863.4(DPM2):c.237G>A (p.Val79=)
NM_003863.4(DPM2):c.27G>C (p.Val9=)
NM_003863.4(DPM2):c.29del (p.Gly10fs)
NM_003863.4(DPM2):c.3+12A>T
NM_003863.4(DPM2):c.3+14C>T
NM_003863.4(DPM2):c.3+15G>T
NM_003863.4(DPM2):c.3+16T>C
NM_003863.4(DPM2):c.3+3G>A rs1403906360
NM_003863.4(DPM2):c.3+3G>T rs1403906360
NM_003863.4(DPM2):c.35G>A (p.Gly12Asp) rs1224529806
NM_003863.4(DPM2):c.37del (p.Leu13fs) rs1349389319
NM_003863.4(DPM2):c.39C>T (p.Leu13=) rs757467123
NM_003863.4(DPM2):c.4-18G>C
NM_003863.4(DPM2):c.4-1G>C rs797044467
NM_003863.4(DPM2):c.65C>T (p.Thr22Ile)
NM_003863.4(DPM2):c.66C>A (p.Thr22=) rs532790675
NM_003863.4(DPM2):c.66C>G (p.Thr22=) rs532790675
NM_003863.4(DPM2):c.68A>G (p.Tyr23Cys) rs397514503
NM_003863.4(DPM2):c.88C>G (p.Leu30Val) rs886063483
NM_003863.4(DPM2):c.8C>T (p.Thr3Met)
NM_003863.4(DPM2):c.93+14C>T rs1831525625
NM_003863.4(DPM2):c.93+17G>A
NM_003863.4(DPM2):c.93+17G>C
NM_003863.4(DPM2):c.93+5G>A
NM_003863.4(DPM2):c.94-11C>T
NM_003863.4(DPM2):c.94-14del rs760202275
NM_003863.4(DPM2):c.94-18C>G rs577196007
NM_003863.4(DPM2):c.94-19G>C
NM_003863.4(DPM2):c.94-19G>T
NM_003863.4(DPM2):c.94-4C>T rs1588689814
NM_004341.5(CAD):c.1100G>A (p.Gly367Asp) rs766915720
NM_004341.5(CAD):c.1331A>G (p.Gln444Arg)
NM_004341.5(CAD):c.1843-1G>A rs769567624
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004341.5(CAD):c.208T>C (p.Phe70Leu) rs1674954573
NM_004341.5(CAD):c.223-2A>G rs1675149924
NM_004341.5(CAD):c.2401-5A>G rs759687469
NM_004341.5(CAD):c.3512C>A (p.Pro1171Gln) rs770280820
NM_004341.5(CAD):c.3721del (p.Val1241fs) rs2148080342
NM_004341.5(CAD):c.4231A>G (p.Lys1411Glu)
NM_004341.5(CAD):c.4669C>G (p.Leu1557Val) rs199990394
NM_004341.5(CAD):c.5104C>T (p.Pro1702Ser) rs529298259
NM_004341.5(CAD):c.5318C>G (p.Pro1773Arg)
NM_004341.5(CAD):c.5545_5546del (p.Phe1849fs) rs1676249686
NM_004341.5(CAD):c.571C>T (p.Arg191Ter) rs1572423883
NM_004341.5(CAD):c.610C>T (p.Pro204Ser)
NM_004341.5(CAD):c.6329G>T (p.Arg2110Leu) rs759380014
NM_004341.5(CAD):c.6436C>G (p.Arg2146Gly)
NM_004341.5(CAD):c.98T>G (p.Met33Arg) rs751610198
NM_004870.4(MPDU1):c.*27C>T rs374857107
NM_004870.4(MPDU1):c.137T>C (p.Leu46Pro) rs1452719895
NM_004870.4(MPDU1):c.170-1G>A
NM_004870.4(MPDU1):c.189T>G (p.Phe63Leu) rs750579485
NM_004870.4(MPDU1):c.303-9A>G rs763924892
NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser) rs1555570093
NM_004870.4(MPDU1):c.337A>T (p.Thr113Ser)
NM_004870.4(MPDU1):c.356T>C (p.Leu119Pro) rs104894587
NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro) rs1555570110
NM_004870.4(MPDU1):c.403G>A (p.Ala135Thr) rs137983973
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro) rs137983973
NM_004870.4(MPDU1):c.410A>G (p.Tyr137Cys)
NM_004870.4(MPDU1):c.468G>A (p.Leu156=)
NM_004870.4(MPDU1):c.477del (p.Ser160fs) rs765585873
NM_004870.4(MPDU1):c.508-9C>T rs867359652
NM_004870.4(MPDU1):c.53T>C (p.Leu18Ser) rs2071537142
NM_004870.4(MPDU1):c.573C>A (p.Phe191Leu) rs2071599921
NM_004870.4(MPDU1):c.582T>C (p.Phe194=) rs763418089
NM_004870.4(MPDU1):c.589T>C (p.Ser197Pro)
NM_004870.4(MPDU1):c.591C>G (p.Ser197=) rs2150936245
NM_004870.4(MPDU1):c.619-17C>G
NM_004870.4(MPDU1):c.631C>G (p.Pro211Ala) rs2150936424
NM_004870.4(MPDU1):c.66C>G (p.Cys22Trp) rs1388629959
NM_004870.4(MPDU1):c.69del (p.Cys22_Tyr23insTer) rs2150933483
NM_004870.4(MPDU1):c.729G>C (p.Gln243His) rs144333176
NM_004870.4(MPDU1):c.740A>T (p.Gln247Leu)
NM_005216.4(DDOST):c.206_211delACCGGG rs769669810
NM_005216.4(DDOST):c.20C>G (p.Ala7Gly) rs1391192747
NM_005216.4(DDOST):c.32C>G (p.Ser11Cys) rs140102515
NM_005216.4(DDOST):c.32C>T (p.Ser11Phe) rs140102515
NM_005216.5(DDOST):c.*40A>G rs6893
NM_005216.5(DDOST):c.-18T>G rs1196325942
NM_005216.5(DDOST):c.-5G>A
NM_005216.5(DDOST):c.1028T>C (p.Ile343Thr)
NM_005216.5(DDOST):c.1053GAA[2] (p.Lys354del) rs776647294
NM_005216.5(DDOST):c.1063+19C>T
NM_005216.5(DDOST):c.1063+20G>A
NM_005216.5(DDOST):c.1063+34dup rs11428148
NM_005216.5(DDOST):c.1064-2A>C
NM_005216.5(DDOST):c.1064-5C>T
NM_005216.5(DDOST):c.111C>T (p.Leu37=) rs2154534463
NM_005216.5(DDOST):c.1151A>G (p.His384Arg)
NM_005216.5(DDOST):c.1158C>T (p.Tyr386=)
NM_005216.5(DDOST):c.1171-7_1171-5del
NM_005216.5(DDOST):c.1171-9C>G
NM_005216.5(DDOST):c.1177G>A (p.Val393Met)
NM_005216.5(DDOST):c.1210T>C (p.Phe404Leu)
NM_005216.5(DDOST):c.1214_1235del (p.Ile405fs) rs587776874
NM_005216.5(DDOST):c.1218C>T (p.Pro406=)
NM_005216.5(DDOST):c.1220C>T (p.Ser407Leu)
NM_005216.5(DDOST):c.1226A>G (p.Tyr409Cys)
NM_005216.5(DDOST):c.1243G>A (p.Ala415Thr)
NM_005216.5(DDOST):c.1263G>C (p.Gly421=)
NM_005216.5(DDOST):c.1274T>A (p.Phe425Tyr) rs374032054
NM_005216.5(DDOST):c.1284CTT[1] (p.Phe429del)
NM_005216.5(DDOST):c.1287C>A (p.Phe429Leu)
NM_005216.5(DDOST):c.132G>T (p.Ser44=)
NM_005216.5(DDOST):c.154+14C>T
NM_005216.5(DDOST):c.154+5G>A
NM_005216.5(DDOST):c.154+7G>C
NM_005216.5(DDOST):c.167A>G (p.Glu56Gly) rs2154534449
NM_005216.5(DDOST):c.173C>T (p.Thr58Ile)
NM_005216.5(DDOST):c.225C>T (p.Phe75=) rs1408934262
NM_005216.5(DDOST):c.237T>A (p.Asn79Lys)
NM_005216.5(DDOST):c.24G>A (p.Arg8=)
NM_005216.5(DDOST):c.254C>T (p.Pro85Leu)
NM_005216.5(DDOST):c.278A>G (p.Asn93Ser)
NM_005216.5(DDOST):c.280A>T (p.Ile94Phe)
NM_005216.5(DDOST):c.287T>C (p.Val96Ala)
NM_005216.5(DDOST):c.308T>C (p.Ile103Thr)
NM_005216.5(DDOST):c.312C>T (p.Asp104=)
NM_005216.5(DDOST):c.331G>A (p.Val111Ile)
NM_005216.5(DDOST):c.352+2T>C
NM_005216.5(DDOST):c.382T>G (p.Cys128Gly)
NM_005216.5(DDOST):c.419T>C (p.Ile140Thr)
NM_005216.5(DDOST):c.427C>G (p.His143Asp) rs2154534284
NM_005216.5(DDOST):c.456+4A>G
NM_005216.5(DDOST):c.457-9T>G
NM_005216.5(DDOST):c.462G>A (p.Thr154=)
NM_005216.5(DDOST):c.532A>G (p.Ile178Val)
NM_005216.5(DDOST):c.534C>T (p.Ile178=)
NM_005216.5(DDOST):c.540T>C (p.Phe180=) rs2154534275
NM_005216.5(DDOST):c.551+11G>A rs369573026
NM_005216.5(DDOST):c.551+17G>A
NM_005216.5(DDOST):c.552-12G>A
NM_005216.5(DDOST):c.579G>A (p.Leu193=)
NM_005216.5(DDOST):c.583C>G (p.Leu195Val)
NM_005216.5(DDOST):c.599G>A (p.Gly200Asp) rs387906831
NM_005216.5(DDOST):c.618C>A (p.Ser206=)
NM_005216.5(DDOST):c.626C>T (p.Pro209Leu)
NM_005216.5(DDOST):c.632A>T (p.Lys211Met)
NM_005216.5(DDOST):c.635C>T (p.Pro212Leu)
NM_005216.5(DDOST):c.63C>T (p.Gly21=)
NM_005216.5(DDOST):c.645+19T>C
NM_005216.5(DDOST):c.656C>T (p.Ala219Val)
NM_005216.5(DDOST):c.687_688delinsAA (p.Leu230Ile)
NM_005216.5(DDOST):c.68T>G (p.Val23Gly)
NM_005216.5(DDOST):c.694G>T (p.Ala232Ser)
NM_005216.5(DDOST):c.6G>T (p.Glu2Asp)
NM_005216.5(DDOST):c.728C>T (p.Ser243Phe) rs2053339801
NM_005216.5(DDOST):c.732C>A (p.Leu244=) rs149114970
NM_005216.5(DDOST):c.751TTC[1] (p.Phe252del) rs751872569
NM_005216.5(DDOST):c.753C>T (p.Phe251=)
NM_005216.5(DDOST):c.782C>T (p.Pro261Leu) rs2154534235
NM_005216.5(DDOST):c.794+10A>G
NM_005216.5(DDOST):c.794+10A>T
NM_005216.5(DDOST):c.795-3C>G
NM_005216.5(DDOST):c.795G>A (p.Arg265=)
NM_005216.5(DDOST):c.826G>A (p.Val276Met)
NM_005216.5(DDOST):c.82C>T (p.Pro28Ser)
NM_005216.5(DDOST):c.838C>T (p.Arg280Cys)
NM_005216.5(DDOST):c.839G>A (p.Arg280His)
NM_005216.5(DDOST):c.83C>T (p.Pro28Leu)
NM_005216.5(DDOST):c.846del (p.Phe283fs)
NM_005216.5(DDOST):c.851AGG[2] (p.Glu286del) rs1557571295
NM_005216.5(DDOST):c.868C>T (p.Arg290Cys)
NM_005216.5(DDOST):c.869G>T (p.Arg290Leu) rs367807479
NM_005216.5(DDOST):c.884C>T (p.Ser295Phe)
NM_005216.5(DDOST):c.897G>A (p.Val299=)
NM_005216.5(DDOST):c.900C>T (p.Gly300=)
NM_005216.5(DDOST):c.908C>T (p.Ala303Val)
NM_005216.5(DDOST):c.942+13dup
NM_005216.5(DDOST):c.942+15G>C
NM_005787.6(ALG3):c.*108T>C rs1577100095
NM_005787.6(ALG3):c.1009+14T>G
NM_005787.6(ALG3):c.1014C>A (p.Ile338=)
NM_005787.6(ALG3):c.1014C>T (p.Ile338=)
NM_005787.6(ALG3):c.101T>C (p.Leu34Pro)
NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser) rs1560162116
NM_005787.6(ALG3):c.1060C>T (p.Arg354Cys)
NM_005787.6(ALG3):c.1077G>A (p.Gln359=) rs534288406
NM_005787.6(ALG3):c.1083C>T (p.Tyr361=)
NM_005787.6(ALG3):c.1132C>T (p.Arg378Cys)
NM_005787.6(ALG3):c.1146C>T (p.His382=) rs370304622
NM_005787.6(ALG3):c.1156T>C (p.Leu386=) rs761215928
NM_005787.6(ALG3):c.1170G>T (p.Gly390=) rs758528909
NM_005787.6(ALG3):c.1188G>A (p.Trp396Ter)
NM_005787.6(ALG3):c.1188dup (p.Asn397fs)
NM_005787.6(ALG3):c.11G>T (p.Gly4Val)
NM_005787.6(ALG3):c.1212C>G (p.Cys404Trp)
NM_005787.6(ALG3):c.1242C>T (p.Ala414=)
NM_005787.6(ALG3):c.1254G>A (p.Leu418=)
NM_005787.6(ALG3):c.1263G>A (p.Trp421Ter) rs1560161567
NM_005787.6(ALG3):c.163_196+3del rs1560166870
NM_005787.6(ALG3):c.16C>T (p.Arg6Trp) rs199587005
NM_005787.6(ALG3):c.18G>A (p.Arg6=) rs1239564678
NM_005787.6(ALG3):c.196+16G>A
NM_005787.6(ALG3):c.196+19del rs1260750286
NM_005787.6(ALG3):c.211T>C (p.Trp71Arg) rs119103237
NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys) rs1028791709
NM_005787.6(ALG3):c.296+13A>C rs2108442309
NM_005787.6(ALG3):c.296+20T>C
NM_005787.6(ALG3):c.296+4A>G rs1560164682
NM_005787.6(ALG3):c.296+5G>A rs1719108178
NM_005787.6(ALG3):c.297-11T>C
NM_005787.6(ALG3):c.297-19A>G
NM_005787.6(ALG3):c.29_45dup (p.Gln16fs)
NM_005787.6(ALG3):c.2T>C (p.Met1Thr) rs773271124
NM_005787.6(ALG3):c.304G>T (p.Ala102Ser) rs1719101179
NM_005787.6(ALG3):c.30G>C (p.Arg10=)
NM_005787.6(ALG3):c.321C>T (p.Ile107=) rs1436563177
NM_005787.6(ALG3):c.33C>A (p.Ser11=)
NM_005787.6(ALG3):c.347G>C (p.Ser116Thr)
NM_005787.6(ALG3):c.347G>T (p.Ser116Ile) rs562487441
NM_005787.6(ALG3):c.34G>C (p.Gly12Arg)
NM_005787.6(ALG3):c.353G>A (p.Gly118Asp) rs28940588
NM_005787.6(ALG3):c.364C>T (p.Arg122Cys)
NM_005787.6(ALG3):c.410_411insTGTCTTCTTGCT (p.Leu137_Leu138insValPheLeuLeu) rs2108442073
NM_005787.6(ALG3):c.444+2T>G rs1719083745
NM_005787.6(ALG3):c.445-17C>T
NM_005787.6(ALG3):c.445-19T>C
NM_005787.6(ALG3):c.456C>T (p.Phe152=)
NM_005787.6(ALG3):c.457G>A (p.Val153Ile)
NM_005787.6(ALG3):c.470T>A (p.Met157Lys) rs119103238
NM_005787.6(ALG3):c.487C>T (p.Arg163Cys)
NM_005787.6(ALG3):c.503T>C (p.Phe168Ser)
NM_005787.6(ALG3):c.50C>T (p.Ala17Val)
NM_005787.6(ALG3):c.53A>G (p.Glu18Gly)
NM_005787.6(ALG3):c.544C>T (p.Leu182Phe) rs1719066241
NM_005787.6(ALG3):c.545T>C (p.Leu182Pro) rs747561539
NM_005787.6(ALG3):c.550C>T (p.Leu184Phe) rs1171334770
NM_005787.6(ALG3):c.579C>T (p.Arg193=)
NM_005787.6(ALG3):c.58C>T (p.Leu20Phe)
NM_005787.6(ALG3):c.606-18C>T
NM_005787.6(ALG3):c.61T>G (p.Cys21Gly)
NM_005787.6(ALG3):c.626T>C (p.Met209Thr) rs1553828467
NM_005787.6(ALG3):c.62G>T (p.Cys21Phe)
NM_005787.6(ALG3):c.633G>A (p.Val211=) rs2108441361
NM_005787.6(ALG3):c.639C>A (p.Leu213=)
NM_005787.6(ALG3):c.685C>T (p.Arg229Cys)
NM_005787.6(ALG3):c.717T>G (p.Ala239=)
NM_005787.6(ALG3):c.749T>A (p.Leu250Gln) rs2108440795
NM_005787.6(ALG3):c.752T>C (p.Leu251Pro) rs1085307980
NM_005787.6(ALG3):c.763A>C (p.Ser255Arg) rs1718985510
NM_005787.6(ALG3):c.796C>T (p.Arg266Cys) rs747953768
NM_005787.6(ALG3):c.799C>A (p.Gln267Lys) rs528154210
NM_005787.6(ALG3):c.79C>G (p.Arg27Gly)
NM_005787.6(ALG3):c.812A>G (p.His271Arg) rs2108440706
NM_005787.6(ALG3):c.82G>C (p.Ala28Pro) rs750342592
NM_005787.6(ALG3):c.846G>A (p.Ala282=) rs370912574
NM_005787.6(ALG3):c.888C>T (p.Ala296=)
NM_005787.6(ALG3):c.890A>G (p.His297Arg)
NM_005787.6(ALG3):c.918C>T (p.Leu306=)
NM_005787.6(ALG3):c.929A>G (p.His310Arg) rs2108440580
NM_005787.6(ALG3):c.932+10G>A
NM_005787.6(ALG3):c.933-20_933-17del
NM_005787.6(ALG3):c.944G>A (p.Ser315Asn)
NM_005787.6(ALG3):c.945T>C (p.Ser315=)
NM_005787.6(ALG3):c.985C>G (p.Pro329Ala) rs751758378
NM_005787.6(ALG3):c.985C>T (p.Pro329Ser) rs751758378
NM_005787.6(ALG3):c.991C>T (p.Gln331Ter) rs1553827968
NM_006280.3(SSR4):c.141dup (p.Val48fs) rs2092142348
NM_006280.3(SSR4):c.187-301_352-15del rs1557072752
NM_006280.3(SSR4):c.235C>T (p.Arg79Ter)
NM_006280.3(SSR4):c.241C>T (p.Gln81Ter) rs2092148846
NM_006280.3(SSR4):c.261+2_261+8del rs2148450759
NM_006280.3(SSR4):c.269G>A (p.Trp90Ter) rs2148450972
NM_006280.3(SSR4):c.270G>A (p.Trp90Ter)
NM_006280.3(SSR4):c.317del (p.Phe106fs) rs606231298
NM_006280.3(SSR4):c.358_359del (p.Arg120fs) rs794729223
NM_006280.3(SSR4):c.417+1G>A rs1057518735
NM_006280.3(SSR4):c.418-1G>A rs1057518736
NM_006280.3(SSR4):c.418-2A>G rs880003306
NM_006280.3(SSR4):c.429C>A (p.Asn143Lys)
NM_006280.3(SSR4):c.482A>G (p.Tyr161Cys)
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter) rs1313275799
NM_012463.4(ATP6V0A2):c.1007A>G (p.Gln336Arg)
NM_012463.4(ATP6V0A2):c.1019G>A (p.Arg340Gln)
NM_012463.4(ATP6V0A2):c.1022C>A (p.Ala341Glu) rs1956564188
NM_012463.4(ATP6V0A2):c.102G>T (p.Leu34=)
NM_012463.4(ATP6V0A2):c.1038+20_1038+22del
NM_012463.4(ATP6V0A2):c.1038G>T (p.Ser346=) rs147411055
NM_012463.4(ATP6V0A2):c.1039-13G>A rs375793162
NM_012463.4(ATP6V0A2):c.1039-15T>C
NM_012463.4(ATP6V0A2):c.1039-1G>A
NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs) rs958086368
NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=) rs1593910063
NM_012463.4(ATP6V0A2):c.1070T>C (p.Met357Thr)
NM_012463.4(ATP6V0A2):c.1079T>C (p.Ile360Thr) rs753742915
NM_012463.4(ATP6V0A2):c.1081C>A (p.Pro361Thr)
NM_012463.4(ATP6V0A2):c.1094C>T (p.Thr365Ile) rs779001204
NM_012463.4(ATP6V0A2):c.1098C>A (p.Pro366=)
NM_012463.4(ATP6V0A2):c.1128C>G (p.Thr376=)
NM_012463.4(ATP6V0A2):c.1157A>G (p.Tyr386Cys)
NM_012463.4(ATP6V0A2):c.117+10G>A
NM_012463.4(ATP6V0A2):c.117+13C>T
NM_012463.4(ATP6V0A2):c.117+18_117+19del rs772260989
NM_012463.4(ATP6V0A2):c.117+19A>G
NM_012463.4(ATP6V0A2):c.117+1del
NM_012463.4(ATP6V0A2):c.117+20C>G
NM_012463.4(ATP6V0A2):c.117+20_117+21insT
NM_012463.4(ATP6V0A2):c.117+7G>A
NM_012463.4(ATP6V0A2):c.117+9C>A
NM_012463.4(ATP6V0A2):c.118-13A>G
NM_012463.4(ATP6V0A2):c.118-1G>T rs2135879573
NM_012463.4(ATP6V0A2):c.118-4T>C
NM_012463.4(ATP6V0A2):c.118-6del
NM_012463.4(ATP6V0A2):c.118-9T>G
NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro)
NM_012463.4(ATP6V0A2):c.1190-7dup
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=) rs1171365721
NM_012463.4(ATP6V0A2):c.1223T>C (p.Phe408Ser)
NM_012463.4(ATP6V0A2):c.1231A>C (p.Met411Leu)
NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=)
NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=)
NM_012463.4(ATP6V0A2):c.1291A>G (p.Asn431Asp)
NM_012463.4(ATP6V0A2):c.1309C>A (p.Leu437Ile)
NM_012463.4(ATP6V0A2):c.1311A>G (p.Leu437=)
NM_012463.4(ATP6V0A2):c.1326+7A>C
NM_012463.4(ATP6V0A2):c.1326+7_1326+15dup rs1593910803
NM_012463.4(ATP6V0A2):c.1353G>A (p.Arg451=)
NM_012463.4(ATP6V0A2):c.1357A>G (p.Ile453Val) rs911881776
NM_012463.4(ATP6V0A2):c.1362C>T (p.Leu454=)
NM_012463.4(ATP6V0A2):c.1370T>C (p.Met457Thr)
NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser)
NM_012463.4(ATP6V0A2):c.1399A>G (p.Ile467Val) rs753076012
NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=)
NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=)
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) rs532258057
NM_012463.4(ATP6V0A2):c.1437C>T (p.Phe479=)
NM_012463.4(ATP6V0A2):c.1455G>A (p.Val485=)
NM_012463.4(ATP6V0A2):c.1473C>T (p.Ser491=)
NM_012463.4(ATP6V0A2):c.1476C>T (p.Ser492=)
NM_012463.4(ATP6V0A2):c.1481C>T (p.Pro494Leu)
NM_012463.4(ATP6V0A2):c.1484C>T (p.Pro495Leu)
NM_012463.4(ATP6V0A2):c.1491G>A (p.Glu497=)
NM_012463.4(ATP6V0A2):c.1496AGA[1] (p.Lys500del)
NM_012463.4(ATP6V0A2):c.1515-7_1515-5del
NM_012463.4(ATP6V0A2):c.1515-9T>C
NM_012463.4(ATP6V0A2):c.1515-9T>G
NM_012463.4(ATP6V0A2):c.1515_1516inv (p.Asp506Asn)
NM_012463.4(ATP6V0A2):c.1558A>G (p.Ser520Gly)
NM_012463.4(ATP6V0A2):c.1604del (p.Pro535fs)
NM_012463.4(ATP6V0A2):c.1605+10C>T
NM_012463.4(ATP6V0A2):c.1605+16T>G rs532950608
NM_012463.4(ATP6V0A2):c.1605+1G>A rs1956646992
NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=)
NM_012463.4(ATP6V0A2):c.1628G>A (p.Arg543His)
NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=)
NM_012463.4(ATP6V0A2):c.1665C>G (p.Ser555=)
NM_012463.4(ATP6V0A2):c.1667T>C (p.Val556Ala)
NM_012463.4(ATP6V0A2):c.1674A>G (p.Leu558=)
NM_012463.4(ATP6V0A2):c.1677A>C (p.Gly559=)
NM_012463.4(ATP6V0A2):c.1692T>G (p.Thr564=) rs2135913544
NM_012463.4(ATP6V0A2):c.1723T>G (p.Leu575Val) rs2135913589
NM_012463.4(ATP6V0A2):c.1724+11A>T
NM_012463.4(ATP6V0A2):c.1724+20del rs375845531
NM_012463.4(ATP6V0A2):c.1724+20dup
NM_012463.4(ATP6V0A2):c.1725-10del
NM_012463.4(ATP6V0A2):c.1725-9C>T
NM_012463.4(ATP6V0A2):c.1755G>C (p.Leu585=)
NM_012463.4(ATP6V0A2):c.1767G>A (p.Pro589=)
NM_012463.4(ATP6V0A2):c.1776C>T (p.Leu592=)
NM_012463.4(ATP6V0A2):c.1780A>G (p.Met594Val)
NM_012463.4(ATP6V0A2):c.17G>A (p.Arg6Gln) rs2135870876
NM_012463.4(ATP6V0A2):c.1830G>T (p.Leu610=)
NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs) rs1956686080
NM_012463.4(ATP6V0A2):c.1843G>A (p.Glu615Lys) rs2135914600
NM_012463.4(ATP6V0A2):c.1848C>T (p.Thr616=) rs776365183
NM_012463.4(ATP6V0A2):c.1863C>T (p.Pro621=) rs2135914630
NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln)
NM_012463.4(ATP6V0A2):c.1897T>C (p.Phe633Leu)
NM_012463.4(ATP6V0A2):c.1926C>A (p.Tyr642Ter)
NM_012463.4(ATP6V0A2):c.1926C>T (p.Tyr642=) rs1593915216
NM_012463.4(ATP6V0A2):c.1932G>A (p.Gly644=)
NM_012463.4(ATP6V0A2):c.1941T>C (p.Tyr647=)
NM_012463.4(ATP6V0A2):c.1945_1946del (p.Gln649fs)
NM_012463.4(ATP6V0A2):c.1948A>G (p.Arg650Gly)
NM_012463.4(ATP6V0A2):c.1953G>A (p.Val651=)
NM_012463.4(ATP6V0A2):c.196+8T>A
NM_012463.4(ATP6V0A2):c.197-14T>A
NM_012463.4(ATP6V0A2):c.197-16A>G
NM_012463.4(ATP6V0A2):c.1988T>A (p.Leu663His)
NM_012463.4(ATP6V0A2):c.1994T>A (p.Leu665Ter)
NM_012463.4(ATP6V0A2):c.1999A>G (p.Lys667Glu)
NM_012463.4(ATP6V0A2):c.19A>G (p.Ser7Gly)
NM_012463.4(ATP6V0A2):c.2015T>A (p.Leu672Ter)
NM_012463.4(ATP6V0A2):c.2015T>C (p.Leu672Ser)
NM_012463.4(ATP6V0A2):c.2034T>C (p.Arg678=)
NM_012463.4(ATP6V0A2):c.2055+18_2055+24dup
NM_012463.4(ATP6V0A2):c.2055+4A>C rs2135917390
NM_012463.4(ATP6V0A2):c.2055+8C>T
NM_012463.4(ATP6V0A2):c.2055+9G>A
NM_012463.4(ATP6V0A2):c.2056-10T>C
NM_012463.4(ATP6V0A2):c.2056-14C>G rs375232199
NM_012463.4(ATP6V0A2):c.2056-14C>T
NM_012463.4(ATP6V0A2):c.2056-18_2056-17del
NM_012463.4(ATP6V0A2):c.2056-20T>C
NM_012463.4(ATP6V0A2):c.2056-2A>G
NM_012463.4(ATP6V0A2):c.2057G>A (p.Ser686Asn)
NM_012463.4(ATP6V0A2):c.205G>A (p.Val69Ile)
NM_012463.4(ATP6V0A2):c.2067A>G (p.Thr689=)
NM_012463.4(ATP6V0A2):c.2097T>A (p.Val699=)
NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=)
NM_012463.4(ATP6V0A2):c.2193A>G (p.Ile731Met)
NM_012463.4(ATP6V0A2):c.2203C>T (p.Gln735Ter) rs2135920743
NM_012463.4(ATP6V0A2):c.2206G>A (p.Val736Ile)
NM_012463.4(ATP6V0A2):c.2223G>A (p.Glu741=)
NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=)
NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe)
NM_012463.4(ATP6V0A2):c.2256C>T (p.Ser752=)
NM_012463.4(ATP6V0A2):c.2289C>T (p.His763=)
NM_012463.4(ATP6V0A2):c.2294-12A>G
NM_012463.4(ATP6V0A2):c.2304del (p.Asp768fs)
NM_012463.4(ATP6V0A2):c.2328C>T (p.Arg776=)
NM_012463.4(ATP6V0A2):c.2329G>A (p.Val777Met)
NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=)
NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=)
NM_012463.4(ATP6V0A2):c.2383G>A (p.Ala795Thr)
NM_012463.4(ATP6V0A2):c.2388C>G (p.Leu796=)
NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=)
NM_012463.4(ATP6V0A2):c.2449G>A (p.Ala817Thr)
NM_012463.4(ATP6V0A2):c.2465+20T>C
NM_012463.4(ATP6V0A2):c.2466-10T>G
NM_012463.4(ATP6V0A2):c.2466-16C>G
NM_012463.4(ATP6V0A2):c.2466-16C>T
NM_012463.4(ATP6V0A2):c.2466-17_2466-16insA
NM_012463.4(ATP6V0A2):c.2466-3del
NM_012463.4(ATP6V0A2):c.2466-3dup rs370511382
NM_012463.4(ATP6V0A2):c.2472A>G (p.Glu824=)
NM_012463.4(ATP6V0A2):c.2490C>T (p.Tyr830=)
NM_012463.4(ATP6V0A2):c.2491G>A (p.Val831Ile)
NM_012463.4(ATP6V0A2):c.2502C>T (p.Gly834=) rs1451115150
NM_012463.4(ATP6V0A2):c.2509T>C (p.Phe837Leu)
NM_012463.4(ATP6V0A2):c.2531T>G (p.Leu844Arg)
NM_012463.4(ATP6V0A2):c.2541A>G (p.Ser847=)
NM_012463.4(ATP6V0A2):c.2553C>T (p.Asn851=)
NM_012463.4(ATP6V0A2):c.2559C>T (p.Asp853=) rs1032324166
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>C (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.294+16C>A
NM_012463.4(ATP6V0A2):c.294+16C>T
NM_012463.4(ATP6V0A2):c.294+17G>A
NM_012463.4(ATP6V0A2):c.294+18A>G
NM_012463.4(ATP6V0A2):c.302T>A (p.Leu101Ter)
NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=)
NM_012463.4(ATP6V0A2):c.333C>T (p.Val111=)
NM_012463.4(ATP6V0A2):c.336T>A (p.Thr112=)
NM_012463.4(ATP6V0A2):c.34C>G (p.Leu12Val) rs1232267114
NM_012463.4(ATP6V0A2):c.370G>A (p.Glu124Lys)
NM_012463.4(ATP6V0A2):c.373C>A (p.Leu125Met)
NM_012463.4(ATP6V0A2):c.377_378del (p.Ile126fs)
NM_012463.4(ATP6V0A2):c.382T>C (p.Tyr128His)
NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer)
NM_012463.4(ATP6V0A2):c.406A>C (p.Lys136Gln)
NM_012463.4(ATP6V0A2):c.409A>G (p.Thr137Ala) rs1319344210
NM_012463.4(ATP6V0A2):c.413T>C (p.Phe138Ser)
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His) rs143509747
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.426_427inv (p.Val143Ile)
NM_012463.4(ATP6V0A2):c.433-5T>C
NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=)
NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)
NM_012463.4(ATP6V0A2):c.519G>C (p.Leu173=)
NM_012463.4(ATP6V0A2):c.522-13del rs140638516
NM_012463.4(ATP6V0A2):c.528G>A (p.Val176=)
NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly)
NM_012463.4(ATP6V0A2):c.564T>G (p.Phe188Leu)
NM_012463.4(ATP6V0A2):c.63G>T (p.Thr21=)
NM_012463.4(ATP6V0A2):c.645A>G (p.Glu215=)
NM_012463.4(ATP6V0A2):c.648+13C>T
NM_012463.4(ATP6V0A2):c.649-15A>G
NM_012463.4(ATP6V0A2):c.649-20T>C
NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln) rs759593402
NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter)
NM_012463.4(ATP6V0A2):c.668A>G (p.Tyr223Cys)
NM_012463.4(ATP6V0A2):c.679A>G (p.Ile227Val)
NM_012463.4(ATP6V0A2):c.705C>T (p.Gly235=) rs767516975
NM_012463.4(ATP6V0A2):c.721A>C (p.Ile241Leu)
NM_012463.4(ATP6V0A2):c.728A>G (p.Asp243Gly)
NM_012463.4(ATP6V0A2):c.72G>A (p.Glu24=)
NM_012463.4(ATP6V0A2):c.731+12A>G
NM_012463.4(ATP6V0A2):c.731+16A>G
NM_012463.4(ATP6V0A2):c.731+6A>G
NM_012463.4(ATP6V0A2):c.732-2A>G rs80356753
NM_012463.4(ATP6V0A2):c.744C>T (p.His248=)
NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=)
NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys)
NM_012463.4(ATP6V0A2):c.78C>G (p.Leu26=)
NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys)
NM_012463.4(ATP6V0A2):c.81C>T (p.Ser27=)
NM_012463.4(ATP6V0A2):c.826-14T>G rs2135901661
NM_012463.4(ATP6V0A2):c.826-15G>A
NM_012463.4(ATP6V0A2):c.826-18C>G
NM_012463.4(ATP6V0A2):c.826-20C>T
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786
NM_012463.4(ATP6V0A2):c.849T>C (p.Tyr283=)
NM_012463.4(ATP6V0A2):c.851del (p.Tyr283_Leu284insTer)
NM_012463.4(ATP6V0A2):c.856C>G (p.Gln286Glu) rs759906846
NM_012463.4(ATP6V0A2):c.864A>G (p.Leu288=)
NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=)
NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile) rs371533517
NM_012463.4(ATP6V0A2):c.893G>A (p.Arg298His)
NM_012463.4(ATP6V0A2):c.90C>G (p.Gly30=)
NM_012463.4(ATP6V0A2):c.912A>G (p.Lys304=) rs2135901865
NM_012463.4(ATP6V0A2):c.939C>T (p.Asn313=)
NM_012463.4(ATP6V0A2):c.962A>G (p.Asn321Ser)
NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)
NM_012463.4(ATP6V0A2):c.999G>A (p.Ala333=)
NM_013339.4(ALG6):c.*1238A>C rs1644697712
NM_013339.4(ALG6):c.*454C>T rs903370494
NM_013339.4(ALG6):c.*89G>A rs531808380
NM_013339.4(ALG6):c.-208+10T>C rs1333912773
NM_013339.4(ALG6):c.-221C>G rs886046470
NM_013339.4(ALG6):c.1000C>T (p.Leu334=)
NM_013339.4(ALG6):c.1000delinsGG (p.Leu334fs)
NM_013339.4(ALG6):c.1005A>C (p.Ser335=) rs146094200
NM_013339.4(ALG6):c.1005A>T (p.Ser335=)
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs) rs1644562014
NM_013339.4(ALG6):c.100A>C (p.Met34Leu) rs1557585842
NM_013339.4(ALG6):c.100A>G (p.Met34Val)
NM_013339.4(ALG6):c.100_101del (p.Met34fs)
NM_013339.4(ALG6):c.1011T>C (p.Phe337=) rs2100428006
NM_013339.4(ALG6):c.1013T>A (p.Leu338Ter)
NM_013339.4(ALG6):c.1018del (p.Ser340fs) rs1269984067
NM_013339.4(ALG6):c.1029dup (p.His344fs)
NM_013339.4(ALG6):c.1031A>G (p.His344Arg)
NM_013339.4(ALG6):c.1033G>C (p.Glu345Gln)
NM_013339.4(ALG6):c.1041C>G (p.Ser347=)
NM_013339.4(ALG6):c.1047C>T (p.Leu349=) rs2100428058
NM_013339.4(ALG6):c.1048T>C (p.Leu350=)
NM_013339.4(ALG6):c.104T>C (p.Phe35Ser)
NM_013339.4(ALG6):c.1051G>A (p.Val351Met)
NM_013339.4(ALG6):c.1051G>T (p.Val351Leu)
NM_013339.4(ALG6):c.1058+16T>G
NM_013339.4(ALG6):c.1058+16del
NM_013339.4(ALG6):c.1058+19A>C
NM_013339.4(ALG6):c.1058+1G>A
NM_013339.4(ALG6):c.1058+6T>C rs1644562441
NM_013339.4(ALG6):c.1058+7A>G rs2100428084
NM_013339.4(ALG6):c.1059-20T>G
NM_013339.4(ALG6):c.1059-4T>G
NM_013339.4(ALG6):c.1059-7A>C
NM_013339.4(ALG6):c.1059-7A>G rs769414669
NM_013339.4(ALG6):c.1059-8G>A rs755900020
NM_013339.4(ALG6):c.1060C>T (p.Pro354Ser)
NM_013339.4(ALG6):c.1061C>T (p.Pro354Leu)
NM_013339.4(ALG6):c.1066T>C (p.Cys356Arg)
NM_013339.4(ALG6):c.1072_1076del (p.Val358fs)
NM_013339.4(ALG6):c.1075T>G (p.Leu359Val) rs1260829753
NM_013339.4(ALG6):c.1076T>A (p.Leu359Ter)
NM_013339.4(ALG6):c.107G>A (p.Gly36Asp)
NM_013339.4(ALG6):c.1087C>A (p.Pro363Thr) rs952006163
NM_013339.4(ALG6):c.1097C>T (p.Ser366Phe)
NM_013339.4(ALG6):c.1111C>T (p.Leu371Phe) rs764449670
NM_013339.4(ALG6):c.1112T>C (p.Leu371Pro) rs1644630271
NM_013339.4(ALG6):c.1113del (p.Val372fs)
NM_013339.4(ALG6):c.1116G>T (p.Val372=)
NM_013339.4(ALG6):c.1121C>T (p.Thr374Ile)
NM_013339.4(ALG6):c.1125T>G (p.Phe375Leu)
NM_013339.4(ALG6):c.1127+11T>C rs1436987592
NM_013339.4(ALG6):c.1127+14A>G
NM_013339.4(ALG6):c.1127+18C>G
NM_013339.4(ALG6):c.1127+1G>A rs1557597486
NM_013339.4(ALG6):c.1127+20A>G
NM_013339.4(ALG6):c.1127+4A>G rs2100440455
NM_013339.4(ALG6):c.1127+8A>C rs756307525
NM_013339.4(ALG6):c.1127+8A>G rs756307525
NM_013339.4(ALG6):c.1127+9T>A rs1303052047
NM_013339.4(ALG6):c.1128-15A>C
NM_013339.4(ALG6):c.1128-19T>A
NM_013339.4(ALG6):c.1128-1G>A rs1644631015
NM_013339.4(ALG6):c.1128-2A>C rs1553156882
NM_013339.4(ALG6):c.1128-3C>T
NM_013339.4(ALG6):c.1128-9C>T rs2100440607
NM_013339.4(ALG6):c.1134A>C (p.Leu378=)
NM_013339.4(ALG6):c.1134A>G (p.Leu378=)
NM_013339.4(ALG6):c.1136del (p.Pro379fs) rs1553156884
NM_013339.4(ALG6):c.1137T>A (p.Pro379=)
NM_013339.4(ALG6):c.1144T>C (p.Leu382=)
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)
NM_013339.4(ALG6):c.1161A>G (p.Leu387=)
NM_013339.4(ALG6):c.1167del (p.Ser390fs) rs769698652
NM_013339.4(ALG6):c.1171_1172del (p.Val391fs) rs2100440701
NM_013339.4(ALG6):c.1176G>A (p.Val392=) rs751280587
NM_013339.4(ALG6):c.1178C>A (p.Thr393Lys) rs1644631363
NM_013339.4(ALG6):c.1188A>G (p.Ala396=)
NM_013339.4(ALG6):c.1192T>C (p.Phe398Leu)
NM_013339.4(ALG6):c.1193_1198del (p.Phe398_Ala400delinsSer) rs1553156893
NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs) rs1553156894
NM_013339.4(ALG6):c.1194dup (p.Ile399fs) rs1207096732
NM_013339.4(ALG6):c.1203T>C (p.Cys401=)
NM_013339.4(ALG6):c.1206A>G (p.Val402=)
NM_013339.4(ALG6):c.121C>T (p.Gln41Ter) rs759308812
NM_013339.4(ALG6):c.1227A>G (p.Glu409=)
NM_013339.4(ALG6):c.1228_1229del (p.Lys410fs)
NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del) rs773295759
NM_013339.4(ALG6):c.123G>A (p.Gln41=)
NM_013339.4(ALG6):c.1242A>G (p.Glu414=)
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)
NM_013339.4(ALG6):c.1249C>T (p.Gln417Ter) rs1644631921
NM_013339.4(ALG6):c.1254G>A (p.Leu418=) rs2100440829
NM_013339.4(ALG6):c.1257A>G (p.Lys419=)
NM_013339.4(ALG6):c.1260C>A (p.Ser420=)
NM_013339.4(ALG6):c.1260C>T (p.Ser420=)
NM_013339.4(ALG6):c.1266C>A (p.Ser422=) rs748902317
NM_013339.4(ALG6):c.1266C>T (p.Ser422=) rs748902317
NM_013339.4(ALG6):c.1272T>A (p.Ser424=)
NM_013339.4(ALG6):c.1281A>G (p.Lys427=)
NM_013339.4(ALG6):c.1290A>G (p.Pro430=)
NM_013339.4(ALG6):c.1291T>G (p.Cys431Gly)
NM_013339.4(ALG6):c.1296T>C (p.Phe432=) rs2100440862
NM_013339.4(ALG6):c.129C>T (p.His43=) rs2100404957
NM_013339.4(ALG6):c.12G>A (p.Trp4Ter)
NM_013339.4(ALG6):c.1303C>A (p.Leu435Ile) rs2100440869
NM_013339.4(ALG6):c.1307C>A (p.Ser436Tyr)
NM_013339.4(ALG6):c.1308del (p.Arg437fs)
NM_013339.4(ALG6):c.130T>C (p.Trp44Arg) rs2100404960
NM_013339.4(ALG6):c.1310G>T (p.Arg437Ile) rs1318387105
NM_013339.4(ALG6):c.1325T>C (p.Leu442Ser) rs2100440907
NM_013339.4(ALG6):c.1326+10A>G
NM_013339.4(ALG6):c.1326+1G>A
NM_013339.4(ALG6):c.1326+1G>T rs1475789647
NM_013339.4(ALG6):c.1326+2dup
NM_013339.4(ALG6):c.1326+8C>G rs2100440914
NM_013339.4(ALG6):c.1326+8C>T
NM_013339.4(ALG6):c.1327-12T>C
NM_013339.4(ALG6):c.1327-13T>C
NM_013339.4(ALG6):c.1327-15T>C
NM_013339.4(ALG6):c.1327-16C>A
NM_013339.4(ALG6):c.1327-17C>T
NM_013339.4(ALG6):c.1327-5T>G
NM_013339.4(ALG6):c.1327-8C>T rs1004908693
NM_013339.4(ALG6):c.1327-9dup rs1236127359
NM_013339.4(ALG6):c.1338dup (p.Val447fs) rs1644681692
NM_013339.4(ALG6):c.1342A>C (p.Ile448Leu)
NM_013339.4(ALG6):c.1344C>T (p.Ile448=)
NM_013339.4(ALG6):c.1346C>G (p.Thr449Ser) rs552078516
NM_013339.4(ALG6):c.1347T>C (p.Thr449=) rs1644681761
NM_013339.4(ALG6):c.1359G>A (p.Leu453=) rs2100448162
NM_013339.4(ALG6):c.1363T>C (p.Leu455=) rs2100448173
NM_013339.4(ALG6):c.1364TGA[1] (p.Met456del) rs1553157427
NM_013339.4(ALG6):c.1367T>C (p.Met456Thr)
NM_013339.4(ALG6):c.1371T>C (p.Thr457=)
NM_013339.4(ALG6):c.1372_1373del (p.Val458fs)
NM_013339.4(ALG6):c.137A>G (p.Glu46Gly)
NM_013339.4(ALG6):c.1386T>C (p.Pro462=) rs1644682042
NM_013339.4(ALG6):c.138A>G (p.Glu46=)
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter) rs1553157428
NM_013339.4(ALG6):c.1394_1398dup (p.Pro467fs) rs1553157429
NM_013339.4(ALG6):c.1402G>C (p.Asp468His) rs1644682187
NM_013339.4(ALG6):c.1413T>G (p.Ser471=) rs2100448244
NM_013339.4(ALG6):c.1414G>A (p.Val472Ile) rs1644682228
NM_013339.4(ALG6):c.1414G>C (p.Val472Leu) rs1644682228
NM_013339.4(ALG6):c.1428T>C (p.Phe476=)
NM_013339.4(ALG6):c.1429G>C (p.Val477Leu) rs747356051
NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro) rs121908444
NM_013339.4(ALG6):c.1436G>T (p.Cys479Phe)
NM_013339.4(ALG6):c.1443C>T (p.Asn481=) rs1057524080
NM_013339.4(ALG6):c.1449G>A (p.Leu483=) rs1644682453
NM_013339.4(ALG6):c.1449G>C (p.Leu483=)
NM_013339.4(ALG6):c.144T>A (p.Thr48=)
NM_013339.4(ALG6):c.1456T>C (p.Leu486=)
NM_013339.4(ALG6):c.1458G>C (p.Leu486Phe)
NM_013339.4(ALG6):c.1467T>C (p.Phe489=)
NM_013339.4(ALG6):c.1469_1474del (p.Asn490_Ile491del) rs1553157450
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer) rs756566938
NM_013339.4(ALG6):c.1473TAT[4] (p.Ile493dup) rs1475726598
NM_013339.4(ALG6):c.1476T>C (p.Ile492=) rs2100448349
NM_013339.4(ALG6):c.1479T>A (p.Ile493=) rs1644682686
NM_013339.4(ALG6):c.147del (p.Phe49fs)
NM_013339.4(ALG6):c.1481T>C (p.Met494Thr) rs766169939
NM_013339.4(ALG6):c.1490C>A (p.Ser497Tyr)
NM_013339.4(ALG6):c.1496G>A (p.Ser499Asn)
NM_013339.4(ALG6):c.1501A>G (p.Arg501Gly) rs1644682851
NM_013339.4(ALG6):c.1506T>C (p.Asn502=)
NM_013339.4(ALG6):c.1508A>G (p.Gln503Arg)
NM_013339.4(ALG6):c.151T>A (p.Leu51Ile)
NM_013339.4(ALG6):c.1524G>A (p.Ter508=)
NM_013339.4(ALG6):c.154C>T (p.Pro52Ser)
NM_013339.4(ALG6):c.15C>T (p.Tyr5=) rs1160519305
NM_013339.4(ALG6):c.167+14A>G
NM_013339.4(ALG6):c.167+15A>G
NM_013339.4(ALG6):c.167+19G>C
NM_013339.4(ALG6):c.167+5G>A rs1557585860
NM_013339.4(ALG6):c.167+7del
NM_013339.4(ALG6):c.168-1G>A
NM_013339.4(ALG6):c.168-5T>C rs2100412747
NM_013339.4(ALG6):c.168-9C>G rs751572798
NM_013339.4(ALG6):c.168G>A (p.Trp56Ter)
NM_013339.4(ALG6):c.16T>C (p.Leu6=) rs1439550994
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.171T>C (p.Tyr57=)
NM_013339.4(ALG6):c.171T>G (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.178A>C (p.Ser60Arg) rs1330438032
NM_013339.4(ALG6):c.178A>G (p.Ser60Gly)
NM_013339.4(ALG6):c.180C>G (p.Ser60Arg)
NM_013339.4(ALG6):c.189_191del (p.Asn64del) rs1553155267
NM_013339.4(ALG6):c.192T>C (p.Asn64=) rs1644468589
NM_013339.4(ALG6):c.19A>G (p.Met7Val)
NM_013339.4(ALG6):c.201T>C (p.Tyr67=) rs2100412804
NM_013339.4(ALG6):c.20T>C (p.Met7Thr)
NM_013339.4(ALG6):c.218C>T (p.Pro73Leu) rs2100412827
NM_013339.4(ALG6):c.226dup (p.Thr76fs)
NM_013339.4(ALG6):c.227C>T (p.Thr76Ile) rs773292757
NM_013339.4(ALG6):c.230_238delinsTCTCCTAT (p.Ala77fs)
NM_013339.4(ALG6):c.232del (p.Tyr78fs)
NM_013339.4(ALG6):c.234T>C (p.Tyr78=)
NM_013339.4(ALG6):c.235_237del (p.His79del) rs1297610094
NM_013339.4(ALG6):c.236A>T (p.His79Leu)
NM_013339.4(ALG6):c.23C>G (p.Thr8Arg)
NM_013339.4(ALG6):c.246A>C (p.Leu82=) rs112029121
NM_013339.4(ALG6):c.246A>G (p.Leu82=)
NM_013339.4(ALG6):c.24A>C (p.Thr8=) rs2100378424
NM_013339.4(ALG6):c.254_255del (p.Tyr85fs) rs2100412885
NM_013339.4(ALG6):c.256G>A (p.Val86Met)
NM_013339.4(ALG6):c.257+10del
NM_013339.4(ALG6):c.257+14del
NM_013339.4(ALG6):c.257+17T>C
NM_013339.4(ALG6):c.257+19A>T
NM_013339.4(ALG6):c.257+2T>C rs1644468935
NM_013339.4(ALG6):c.258-13C>G
NM_013339.4(ALG6):c.258-14G>A rs1644480698
NM_013339.4(ALG6):c.258-15T>A rs1427230309
NM_013339.4(ALG6):c.258-18A>C
NM_013339.4(ALG6):c.258-18A>G
NM_013339.4(ALG6):c.258-19T>C
NM_013339.4(ALG6):c.258-2A>C rs2100415367
NM_013339.4(ALG6):c.258-3C>T
NM_013339.4(ALG6):c.258-4G>T rs376611585
NM_013339.4(ALG6):c.258-8A>G rs1570063031
NM_013339.4(ALG6):c.258-9G>T
NM_013339.4(ALG6):c.258-9_267del rs2100415350
NM_013339.4(ALG6):c.272A>G (p.Asn91Ser) rs2100415389
NM_013339.4(ALG6):c.278A>G (p.Asp93Gly) rs1329673040
NM_013339.4(ALG6):c.279C>T (p.Asp93=) rs2100415406
NM_013339.4(ALG6):c.27A>C (p.Val9=)
NM_013339.4(ALG6):c.281G>A (p.Trp94Ter)
NM_013339.4(ALG6):c.282G>T (p.Trp94Cys)
NM_013339.4(ALG6):c.285_286insTATAAACTTT (p.Ala96fs)
NM_013339.4(ALG6):c.288T>C (p.Ala96=)
NM_013339.4(ALG6):c.290del (p.Leu97fs) rs1644480895
NM_013339.4(ALG6):c.291C>T (p.Leu97=) rs1232614059
NM_013339.4(ALG6):c.297A>G (p.Thr99=) rs2100415439
NM_013339.4(ALG6):c.301C>T (p.Arg101Cys)
NM_013339.4(ALG6):c.303T>A (p.Arg101=)
NM_013339.4(ALG6):c.316C>T (p.Gln106Ter) rs1240285695
NM_013339.4(ALG6):c.318G>A (p.Gln106=) rs1316712862
NM_013339.4(ALG6):c.322C>G (p.His108Asp) rs2100415489
NM_013339.4(ALG6):c.325A>G (p.Lys109Glu) rs1644481094
NM_013339.4(ALG6):c.326A>T (p.Lys109Met)
NM_013339.4(ALG6):c.327G>A (p.Lys109=) rs1389168920
NM_013339.4(ALG6):c.338G>T (p.Arg113Leu)
NM_013339.4(ALG6):c.346+11A>G
NM_013339.4(ALG6):c.346+12A>G
NM_013339.4(ALG6):c.346+13T>C
NM_013339.4(ALG6):c.346+15G>T
NM_013339.4(ALG6):c.346+16G>A rs76013640
NM_013339.4(ALG6):c.346+16G>T rs76013640
NM_013339.4(ALG6):c.346+19G>A
NM_013339.4(ALG6):c.346+20T>C
NM_013339.4(ALG6):c.346+5A>G
NM_013339.4(ALG6):c.346+6dup
NM_013339.4(ALG6):c.346+7G>C rs1159085775
NM_013339.4(ALG6):c.346+8A>G
NM_013339.4(ALG6):c.347-14A>C
NM_013339.4(ALG6):c.347-17T>C
NM_013339.4(ALG6):c.347-2A>G
NM_013339.4(ALG6):c.350T>A (p.Leu117Ter)
NM_013339.4(ALG6):c.352del (p.Ile118fs)
NM_013339.4(ALG6):c.390G>T (p.Leu130Phe) rs961740482
NM_013339.4(ALG6):c.399T>A (p.Cys133Ter)
NM_013339.4(ALG6):c.409G>T (p.Glu137Ter) rs2100417039
NM_013339.4(ALG6):c.410A>T (p.Glu137Val)
NM_013339.4(ALG6):c.415T>C (p.Ser139Pro)
NM_013339.4(ALG6):c.419C>T (p.Thr140Ile)
NM_013339.4(ALG6):c.420T>A (p.Thr140=) rs150097046
NM_013339.4(ALG6):c.425A>T (p.Lys142Ile) rs2100417063
NM_013339.4(ALG6):c.428A>C (p.Lys143Thr) rs2100417066
NM_013339.4(ALG6):c.428del (p.Lys143fs) rs1471326272
NM_013339.4(ALG6):c.429+1G>A
NM_013339.4(ALG6):c.429+2T>C
NM_013339.4(ALG6):c.429+2T>G rs1270337982
NM_013339.4(ALG6):c.429+9T>C
NM_013339.4(ALG6):c.429G>A (p.Lys143=) rs193223712
NM_013339.4(ALG6):c.430-10G>C
NM_013339.4(ALG6):c.430-18C>T
NM_013339.4(ALG6):c.430-19A>G
NM_013339.4(ALG6):c.430-2A>G rs1553155565
NM_013339.4(ALG6):c.431T>C (p.Ile144Thr)
NM_013339.4(ALG6):c.434C>G (p.Ala145Gly)
NM_013339.4(ALG6):c.435T>A (p.Ala145=)
NM_013339.4(ALG6):c.442T>C (p.Leu148=)
NM_013339.4(ALG6):c.443dup (p.Leu148fs)
NM_013339.4(ALG6):c.446G>C (p.Cys149Ser) rs2100417551
NM_013339.4(ALG6):c.448A>G (p.Ile150Val) rs571644669
NM_013339.4(ALG6):c.44T>A (p.Leu15Gln)
NM_013339.4(ALG6):c.450C>A (p.Ile150=) rs1644492796
NM_013339.4(ALG6):c.452del (p.Leu151fs) rs1349358854
NM_013339.4(ALG6):c.454C>T (p.Leu152=)
NM_013339.4(ALG6):c.456G>A (p.Leu152=) rs751956471
NM_013339.4(ALG6):c.459T>C (p.Tyr153=) rs887812609
NM_013339.4(ALG6):c.471_476del (p.156_157LI[1]) rs1553155569
NM_013339.4(ALG6):c.474T>C (p.Leu158=) rs2100417592
NM_013339.4(ALG6):c.484_485insA (p.Gly162fs) rs2100417620
NM_013339.4(ALG6):c.489T>C (p.His163=) rs2100417628
NM_013339.4(ALG6):c.492dup (p.Gln165fs) rs1644493041
NM_013339.4(ALG6):c.493C>T (p.Gln165Ter)
NM_013339.4(ALG6):c.493del (p.Gln165fs)
NM_013339.4(ALG6):c.495-10A>C
NM_013339.4(ALG6):c.495-2A>T rs1227131990
NM_013339.4(ALG6):c.495-6G>A
NM_013339.4(ALG6):c.495-8A>G rs2100420744
NM_013339.4(ALG6):c.495A>G (p.Gln165=) rs886046471
NM_013339.4(ALG6):c.498T>G (p.Tyr166Ter)
NM_013339.4(ALG6):c.4G>A (p.Glu2Lys)
NM_013339.4(ALG6):c.504T>C (p.Ser168=)
NM_013339.4(ALG6):c.506_507del (p.Val169fs) rs1274913587
NM_013339.4(ALG6):c.507G>A (p.Val169=)
NM_013339.4(ALG6):c.510T>C (p.Ser170=)
NM_013339.4(ALG6):c.51A>C (p.Val17=) rs2100378459
NM_013339.4(ALG6):c.527G>A (p.Trp176Ter)
NM_013339.4(ALG6):c.531T>A (p.Gly177=) rs1644513973
NM_013339.4(ALG6):c.532G>A (p.Val178Ile) rs2100420805
NM_013339.4(ALG6):c.546T>C (p.Ser182=) rs762983061
NM_013339.4(ALG6):c.546T>G (p.Ser182=)
NM_013339.4(ALG6):c.548G>A (p.Cys183Tyr)
NM_013339.4(ALG6):c.552C>T (p.Asp184=)
NM_013339.4(ALG6):c.553T>C (p.Cys185Arg)
NM_013339.4(ALG6):c.561C>T (p.Leu187=) rs2100420841
NM_013339.4(ALG6):c.562C>T (p.Leu188=)
NM_013339.4(ALG6):c.563T>A (p.Leu188Gln) rs1446317739
NM_013339.4(ALG6):c.564A>G (p.Leu188=) rs755149107
NM_013339.4(ALG6):c.574del (p.Ala192fs) rs2100420854
NM_013339.4(ALG6):c.576A>G (p.Ala192=) rs1421405856
NM_013339.4(ALG6):c.57G>A (p.Trp19Ter)
NM_013339.4(ALG6):c.597T>C (p.Tyr199=) rs2100420873
NM_013339.4(ALG6):c.600A>G (p.Lys200=)
NM_013339.4(ALG6):c.602A>G (p.Gln201Arg) rs1644514423
NM_013339.4(ALG6):c.604A>G (p.Met202Val)
NM_013339.4(ALG6):c.604A>T (p.Met202Leu) rs757012140
NM_013339.4(ALG6):c.60A>G (p.Thr20=)
NM_013339.4(ALG6):c.619G>A (p.Ala207Thr)
NM_013339.4(ALG6):c.619G>T (p.Ala207Ser) rs756038267
NM_013339.4(ALG6):c.621C>A (p.Ala207=) rs2100420899
NM_013339.4(ALG6):c.622T>C (p.Leu208=)
NM_013339.4(ALG6):c.625C>T (p.Pro209Ser)
NM_013339.4(ALG6):c.628T>G (p.Phe210Val)
NM_013339.4(ALG6):c.634T>G (p.Cys212Gly) rs1644514646
NM_013339.4(ALG6):c.634del (p.Cys212fs) rs879133727
NM_013339.4(ALG6):c.634dup (p.Cys212fs) rs879133727
NM_013339.4(ALG6):c.636C>T (p.Cys212=)
NM_013339.4(ALG6):c.63G>A (p.Val21=)
NM_013339.4(ALG6):c.63G>T (p.Val21=) rs1647908648
NM_013339.4(ALG6):c.642del (p.Leu214fs)
NM_013339.4(ALG6):c.651G>A (p.Lys217=)
NM_013339.4(ALG6):c.654T>A (p.Cys218Ter)
NM_013339.4(ALG6):c.656T>C (p.Phe219Ser)
NM_013339.4(ALG6):c.657del (p.Phe219fs)
NM_013339.4(ALG6):c.658A>T (p.Lys220Ter)
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs) rs1553153399
NM_013339.4(ALG6):c.660A>G (p.Lys220=) rs2100420972
NM_013339.4(ALG6):c.663del (p.Gly222fs)
NM_013339.4(ALG6):c.663dup (p.Gly222fs)
NM_013339.4(ALG6):c.665_669dup (p.Lys224fs)
NM_013339.4(ALG6):c.670A>T (p.Lys224Ter)
NM_013339.4(ALG6):c.677A>T (p.Lys226Met)
NM_013339.4(ALG6):c.680+10T>C
NM_013339.4(ALG6):c.680+11T>G
NM_013339.4(ALG6):c.680+12T>C rs777324596
NM_013339.4(ALG6):c.680+19C>T
NM_013339.4(ALG6):c.680+1del
NM_013339.4(ALG6):c.680+4A>G
NM_013339.4(ALG6):c.680+8del
NM_013339.4(ALG6):c.681-16T>G
NM_013339.4(ALG6):c.681-17C>A
NM_013339.4(ALG6):c.681-17C>G
NM_013339.4(ALG6):c.681-18C>G
NM_013339.4(ALG6):c.681-19A>C
NM_013339.4(ALG6):c.681-1G>T
NM_013339.4(ALG6):c.681-3del rs763183173
NM_013339.4(ALG6):c.681-4_681-3insGTTTTTTTGTTTGTTT
NM_013339.4(ALG6):c.681-5T>G
NM_013339.4(ALG6):c.681-6T>G
NM_013339.4(ALG6):c.682T>C (p.Phe228Leu)
NM_013339.4(ALG6):c.684del (p.Phe228fs) rs2100421533
NM_013339.4(ALG6):c.692T>C (p.Leu231Pro)
NM_013339.4(ALG6):c.699G>A (p.Lys233=)
NM_013339.4(ALG6):c.6G>T (p.Glu2Asp)
NM_013339.4(ALG6):c.707G>A (p.Cys236Tyr)
NM_013339.4(ALG6):c.711TGT[1] (p.Val239del)
NM_013339.4(ALG6):c.712G>A (p.Val238Ile)
NM_013339.4(ALG6):c.714T>C (p.Val238=)
NM_013339.4(ALG6):c.714del (p.Val239fs)
NM_013339.4(ALG6):c.720T>G (p.Ala240=) rs2100421596
NM_013339.4(ALG6):c.723C>G (p.Ser241=)
NM_013339.4(ALG6):c.723del (p.Phe242fs) rs755112036
NM_013339.4(ALG6):c.726C>G (p.Phe242Leu)
NM_013339.4(ALG6):c.728T>C (p.Val243Ala) rs886046472
NM_013339.4(ALG6):c.731T>A (p.Leu244His)
NM_013339.4(ALG6):c.732C>T (p.Leu244=) rs528739746
NM_013339.4(ALG6):c.732_748dup (p.Phe250fs) rs1553155823
NM_013339.4(ALG6):c.737G>A (p.Trp246Ter)
NM_013339.4(ALG6):c.738G>A (p.Trp246Ter)
NM_013339.4(ALG6):c.741G>T (p.Leu247=) rs1644518821
NM_013339.4(ALG6):c.742C>A (p.Pro248Thr)
NM_013339.4(ALG6):c.750T>C (p.Phe250=) rs2100421671
NM_013339.4(ALG6):c.762A>G (p.Glu254=) rs1392863186
NM_013339.4(ALG6):c.769C>T (p.Leu257=)
NM_013339.4(ALG6):c.771G>A (p.Leu257=) rs2100421694
NM_013339.4(ALG6):c.772C>T (p.Gln258Ter)
NM_013339.4(ALG6):c.774G>A (p.Gln258=)
NM_013339.4(ALG6):c.778C>G (p.Leu260Val)
NM_013339.4(ALG6):c.780A>G (p.Leu260=)
NM_013339.4(ALG6):c.781AGA[1] (p.Arg262del) rs886548508
NM_013339.4(ALG6):c.789_790del (p.Phe264fs) rs767943869
NM_013339.4(ALG6):c.791del (p.Phe264fs) rs2100421716
NM_013339.4(ALG6):c.794C>T (p.Pro265Leu)
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer) rs2100421727
NM_013339.4(ALG6):c.798T>C (p.Val266=)
NM_013339.4(ALG6):c.798_804dup (p.Gly269Ter)
NM_013339.4(ALG6):c.804T>C (p.Arg268=) rs1644519126
NM_013339.4(ALG6):c.816+11del
NM_013339.4(ALG6):c.816+12C>A
NM_013339.4(ALG6):c.816+14C>A
NM_013339.4(ALG6):c.816+16T>C
NM_013339.4(ALG6):c.816+18C>A rs2100421763
NM_013339.4(ALG6):c.816+19C>T
NM_013339.4(ALG6):c.816+4T>G
NM_013339.4(ALG6):c.816+8T>A
NM_013339.4(ALG6):c.817-8C>G
NM_013339.4(ALG6):c.82+12T>G
NM_013339.4(ALG6):c.82+13T>A
NM_013339.4(ALG6):c.82+17G>C
NM_013339.4(ALG6):c.82+18G>A
NM_013339.4(ALG6):c.82+1G>A
NM_013339.4(ALG6):c.82+7C>T rs2100378518
NM_013339.4(ALG6):c.82+8A>G
NM_013339.4(ALG6):c.82+9T>G
NM_013339.4(ALG6):c.820A>T (p.Lys274Ter)
NM_013339.4(ALG6):c.823G>A (p.Val275Ile)
NM_013339.4(ALG6):c.826G>A (p.Ala276Thr)
NM_013339.4(ALG6):c.82_82+8del rs1424742651
NM_013339.4(ALG6):c.83-20C>A
NM_013339.4(ALG6):c.83-8G>T
NM_013339.4(ALG6):c.83-9T>G
NM_013339.4(ALG6):c.830A>G (p.Asn277Ser)
NM_013339.4(ALG6):c.835del (p.Trp279fs) rs2100423312
NM_013339.4(ALG6):c.843C>T (p.Ser281=)
NM_013339.4(ALG6):c.846C>G (p.Phe282Leu)
NM_013339.4(ALG6):c.849del (p.Asn283fs) rs1644530448
NM_013339.4(ALG6):c.852C>G (p.Val284=) rs912739738
NM_013339.4(ALG6):c.857T>G (p.Leu286Arg)
NM_013339.4(ALG6):c.864T>A (p.Ile288=)
NM_013339.4(ALG6):c.867G>A (p.Lys289=)
NM_013339.4(ALG6):c.879A>G (p.Pro293=) rs2100423371
NM_013339.4(ALG6):c.87T>C (p.Ala29=) rs2100404896
NM_013339.4(ALG6):c.880C>T (p.Arg294Cys)
NM_013339.4(ALG6):c.885C>T (p.His295=) rs1271043295
NM_013339.4(ALG6):c.888C>T (p.Ile296=) rs2100423389
NM_013339.4(ALG6):c.889C>T (p.Gln297Ter)
NM_013339.4(ALG6):c.892T>C (p.Leu298=)
NM_013339.4(ALG6):c.893T>A (p.Leu298Ter)
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del) rs387906338
NM_013339.4(ALG6):c.902+11_902+14del rs2100423419
NM_013339.4(ALG6):c.902+12A>T
NM_013339.4(ALG6):c.902+13A>G
NM_013339.4(ALG6):c.902+2dup
NM_013339.4(ALG6):c.902+7G>T rs372337207
NM_013339.4(ALG6):c.903-11T>G
NM_013339.4(ALG6):c.903-16T>C
NM_013339.4(ALG6):c.903-20G>T rs756370228
NM_013339.4(ALG6):c.903-4T>C rs2100425042
NM_013339.4(ALG6):c.903-7T>C
NM_013339.4(ALG6):c.903-8T>C
NM_013339.4(ALG6):c.915G>C (p.Thr305=) rs112769742
NM_013339.4(ALG6):c.915G>T (p.Thr305=) rs112769742
NM_013339.4(ALG6):c.919T>C (p.Leu307=)
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter) rs1644543791
NM_013339.4(ALG6):c.924C>A (p.Ser308Arg)
NM_013339.4(ALG6):c.927G>C (p.Leu309=) rs2100425098
NM_013339.4(ALG6):c.940A>G (p.Ile314Val)
NM_013339.4(ALG6):c.946T>C (p.Leu316=) rs2100425118
NM_013339.4(ALG6):c.947T>G (p.Leu316Ter)
NM_013339.4(ALG6):c.947_950del (p.Leu316fs)
NM_013339.4(ALG6):c.960C>T (p.Pro320=)
NM_013339.4(ALG6):c.964T>G (p.Ser322Ala)
NM_013339.4(ALG6):c.974_984del (p.Phe325fs)
NM_013339.4(ALG6):c.984A>C (p.Thr328=)
NM_013339.4(ALG6):c.984A>G (p.Thr328=)
NM_013339.4(ALG6):c.985C>T (p.Leu329=) rs1422218414
NM_013339.4(ALG6):c.987+11C>A rs1557592881
NM_013339.4(ALG6):c.987+14T>C
NM_013339.4(ALG6):c.987+1G>T
NM_013339.4(ALG6):c.987G>A (p.Leu329=)
NM_013339.4(ALG6):c.988-13T>G
NM_013339.4(ALG6):c.988-14C>T
NM_013339.4(ALG6):c.988-14_988-13del
NM_013339.4(ALG6):c.988-14del
NM_013339.4(ALG6):c.988-15C>A
NM_013339.4(ALG6):c.988-16C>A
NM_013339.4(ALG6):c.988-16C>T
NM_013339.4(ALG6):c.988-18C>T
NM_013339.4(ALG6):c.988-1G>A rs781473515
NM_013339.4(ALG6):c.988-5T>C
NM_013339.4(ALG6):c.988-7C>A
NM_013339.4(ALG6):c.988-7dup
NM_013339.4(ALG6):c.988-8T>C rs1644561783
NM_013339.4(ALG6):c.988-8dup rs779365053
NM_013339.4(ALG6):c.988G>T (p.Val330Phe) rs1057518724
NM_013339.4(ALG6):c.999G>C (p.Ala333=)
NM_013339.4(ALG6):c.999G>T (p.Ala333=)
NM_013339.4(ALG6):c.9A>G (p.Lys3=) rs2100378404
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe) rs1554826767
NM_014908.4(DOLK):c.-15C>T rs1272594617
NM_014908.4(DOLK):c.-211C>T rs565536230
NM_014908.4(DOLK):c.1009C>G (p.Arg337Gly) rs1276394817
NM_014908.4(DOLK):c.101T>C (p.Ile34Thr) rs1554826863
NM_014908.4(DOLK):c.1028T>C (p.Ile343Thr)
NM_014908.4(DOLK):c.1039A>G (p.Thr347Ala)
NM_014908.4(DOLK):c.1045A>C (p.Ile349Leu)
NM_014908.4(DOLK):c.1058T>C (p.Ile353Thr) rs2131127590
NM_014908.4(DOLK):c.1059C>T (p.Ile353=) rs1167712176
NM_014908.4(DOLK):c.1065C>T (p.Asp355=)
NM_014908.4(DOLK):c.1066C>T (p.Arg356Trp)
NM_014908.4(DOLK):c.106G>A (p.Ala36Thr) rs1841688809
NM_014908.4(DOLK):c.1071A>G (p.Pro357=)
NM_014908.4(DOLK):c.1082T>C (p.Val361Ala)
NM_014908.4(DOLK):c.1089C>A (p.Ala363=)
NM_014908.4(DOLK):c.1090_1099del (p.Thr364fs) rs2131127481
NM_014908.4(DOLK):c.109A>C (p.Thr37Pro)
NM_014908.4(DOLK):c.1103C>T (p.Ala368Val)
NM_014908.4(DOLK):c.1105G>A (p.Val369Ile)
NM_014908.4(DOLK):c.1110C>T (p.Phe370=)
NM_014908.4(DOLK):c.1116C>T (p.Phe372=)
NM_014908.4(DOLK):c.1126G>A (p.Val376Met) rs1841662463
NM_014908.4(DOLK):c.1138C>T (p.Arg380Cys) rs775869216
NM_014908.4(DOLK):c.113T>C (p.Val38Ala)
NM_014908.4(DOLK):c.1140C>T (p.Arg380=)
NM_014908.4(DOLK):c.1149T>C (p.Pro383=) rs1554826752
NM_014908.4(DOLK):c.1170C>T (p.Ser390=)
NM_014908.4(DOLK):c.1176G>T (p.Leu392=) rs1229430506
NM_014908.4(DOLK):c.118G>A (p.Asp40Asn)
NM_014908.4(DOLK):c.1193A>G (p.Glu398Gly)
NM_014908.4(DOLK):c.1195C>G (p.Arg399Gly)
NM_014908.4(DOLK):c.1222C>G (p.His408Asp) rs387907030
NM_014908.4(DOLK):c.1224C>T (p.His408=)
NM_014908.4(DOLK):c.1224_1225del (p.Ile409fs) rs1223257193
NM_014908.4(DOLK):c.1227C>G (p.Ile409Met) rs1841659405
NM_014908.4(DOLK):c.1229A>T (p.Tyr410Phe) rs2131127216
NM_014908.4(DOLK):c.122G>A (p.Arg41Gln) rs1841688531
NM_014908.4(DOLK):c.1235T>C (p.Leu412Pro) rs1841659135
NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp) rs1554826737
NM_014908.4(DOLK):c.1245_1246del (p.Met415fs) rs1841658916
NM_014908.4(DOLK):c.1257_1258del (p.Ile419fs)
NM_014908.4(DOLK):c.1267C>T (p.Pro423Ser) rs1354312358
NM_014908.4(DOLK):c.1273C>T (p.Pro425Ser) rs2131127164
NM_014908.4(DOLK):c.1275del (p.Cys426fs) rs1401485925
NM_014908.4(DOLK):c.1278C>T (p.Cys426=)
NM_014908.4(DOLK):c.1282del (p.Gln428fs)
NM_014908.4(DOLK):c.1284G>C (p.Gln428His) rs1458281229
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg) rs574562542
NM_014908.4(DOLK):c.1288G>C (p.Gly430Arg) rs140983401
NM_014908.4(DOLK):c.129G>C (p.Ser43=) rs372068885
NM_014908.4(DOLK):c.1300G>A (p.Gly434Arg) rs2131127105
NM_014908.4(DOLK):c.1302_1311del (p.Ala435fs)
NM_014908.4(DOLK):c.1303G>A (p.Ala435Thr) rs1306365829
NM_014908.4(DOLK):c.1320C>G (p.Pro440=)
NM_014908.4(DOLK):c.1322A>C (p.Tyr441Ser) rs137853110
NM_014908.4(DOLK):c.1327G>A (p.Gly443Ser)
NM_014908.4(DOLK):c.1330G>A (p.Val444Ile) rs2131127044
NM_014908.4(DOLK):c.1332C>T (p.Val444=)
NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs) rs1287763056
NM_014908.4(DOLK):c.1342G>C (p.Gly448Arg)
NM_014908.4(DOLK):c.1344_1346dup (p.Val449_Gly450insVal)
NM_014908.4(DOLK):c.1348G>A (p.Gly450Ser)
NM_014908.4(DOLK):c.1352A>G (p.Asp451Gly)
NM_014908.4(DOLK):c.1359G>A (p.Val453=) rs2131127011
NM_014908.4(DOLK):c.1362C>T (p.Ala454=) rs2131127008
NM_014908.4(DOLK):c.1363T>A (p.Ser455Thr)
NM_014908.4(DOLK):c.136G>A (p.Ala46Thr) rs2131129267
NM_014908.4(DOLK):c.137C>T (p.Ala46Val) rs1554826859
NM_014908.4(DOLK):c.1380C>T (p.Thr460=) rs1372552063
NM_014908.4(DOLK):c.1381A>G (p.Met461Val) rs1199897936
NM_014908.4(DOLK):c.1383G>C (p.Met461Ile) rs749027694
NM_014908.4(DOLK):c.1393C>T (p.Arg465Cys)
NM_014908.4(DOLK):c.1395C>G (p.Arg465=)
NM_014908.4(DOLK):c.1395C>T (p.Arg465=) rs1045763502
NM_014908.4(DOLK):c.1402G>A (p.Gly468Arg) rs750308538
NM_014908.4(DOLK):c.1407C>T (p.Thr469=)
NM_014908.4(DOLK):c.141G>A (p.Val47=)
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val) rs1588261710
NM_014908.4(DOLK):c.1427_1428delinsTT (p.Thr476Ile)
NM_014908.4(DOLK):c.1429A>G (p.Met477Val) rs763666338
NM_014908.4(DOLK):c.143C>T (p.Ala48Val) rs1293227197
NM_014908.4(DOLK):c.1456T>A (p.Ser486Thr)
NM_014908.4(DOLK):c.1457C>T (p.Ser486Phe) rs1180339847
NM_014908.4(DOLK):c.1462G>T (p.Ala488Ser) rs1588261659
NM_014908.4(DOLK):c.1482C>T (p.Asp494=)
NM_014908.4(DOLK):c.148G>A (p.Ala50Thr) rs2131129240
NM_014908.4(DOLK):c.1490T>C (p.Val497Ala) rs1354195997
NM_014908.4(DOLK):c.1505G>C (p.Ser502Thr)
NM_014908.4(DOLK):c.1509T>C (p.Tyr503=) rs1331692893
NM_014908.4(DOLK):c.1522G>T (p.Gly508Trp) rs2131126776
NM_014908.4(DOLK):c.1525T>G (p.Ser509Ala)
NM_014908.4(DOLK):c.1528A>G (p.Ile510Val) rs777422185
NM_014908.4(DOLK):c.1532G>A (p.Ser511Asn) rs1178866364
NM_014908.4(DOLK):c.1536T>G (p.Thr512=)
NM_014908.4(DOLK):c.1563A>G (p.Thr521=)
NM_014908.4(DOLK):c.1569_1570insAATCT (p.Asp524fs) rs2131126691
NM_014908.4(DOLK):c.156G>C (p.Gln52His) rs1339562262
NM_014908.4(DOLK):c.1571A>T (p.Asp524Val)
NM_014908.4(DOLK):c.1574A>G (p.Asn525Ser)
NM_014908.4(DOLK):c.1576C>T (p.Leu526Phe)
NM_014908.4(DOLK):c.1578_1580del (p.Leu528del) rs1841648901
NM_014908.4(DOLK):c.1596C>G (p.Leu532=)
NM_014908.4(DOLK):c.15C>T (p.Cys5=)
NM_014908.4(DOLK):c.1600A>G (p.Ile534Val)
NM_014908.4(DOLK):c.1603T>C (p.Leu535=)
NM_014908.4(DOLK):c.1606C>G (p.Leu536Val)
NM_014908.4(DOLK):c.1616A>G (p.Ter539Trp)
NM_014908.4(DOLK):c.18A>G (p.Pro6=) rs1841691192
NM_014908.4(DOLK):c.191T>C (p.Leu64Pro)
NM_014908.4(DOLK):c.196C>T (p.Gln66Ter) rs876657785
NM_014908.4(DOLK):c.200G>A (p.Gly67Glu)
NM_014908.4(DOLK):c.202A>T (p.Ser68Cys) rs2131129139
NM_014908.4(DOLK):c.206C>T (p.Ala69Val) rs1554826850
NM_014908.4(DOLK):c.207C>G (p.Ala69=)
NM_014908.4(DOLK):c.207C>T (p.Ala69=) rs145764316
NM_014908.4(DOLK):c.219C>G (p.Phe73Leu) rs761385789
NM_014908.4(DOLK):c.22C>T (p.Pro8Ser) rs565096448
NM_014908.4(DOLK):c.231A>G (p.Ala77=) rs1035319147
NM_014908.4(DOLK):c.244T>C (p.Leu82=) rs1588262895
NM_014908.4(DOLK):c.248C>T (p.Pro83Leu) rs2131129046
NM_014908.4(DOLK):c.250G>T (p.Ala84Ser) rs1841684950
NM_014908.4(DOLK):c.261C>T (p.Val87=)
NM_014908.4(DOLK):c.263T>C (p.Met88Thr) rs1588262888
NM_014908.4(DOLK):c.26C>T (p.Ala9Val)
NM_014908.4(DOLK):c.275G>C (p.Gly92Ala) rs1841684568
NM_014908.4(DOLK):c.277C>G (p.Leu93Val)
NM_014908.4(DOLK):c.27C>G (p.Ala9=) rs2131129465
NM_014908.4(DOLK):c.294G>A (p.Arg98=) rs876657456
NM_014908.4(DOLK):c.295T>A (p.Cys99Ser) rs137853109
NM_014908.4(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_014908.4(DOLK):c.302C>T (p.Thr101Ile) rs1192393606
NM_014908.4(DOLK):c.304G>T (p.Ala102Ser) rs1841683982
NM_014908.4(DOLK):c.305C>G (p.Ala102Gly)
NM_014908.4(DOLK):c.313C>A (p.Pro105Thr) rs1454594732
NM_014908.4(DOLK):c.313C>T (p.Pro105Ser)
NM_014908.4(DOLK):c.324G>C (p.Glu108Asp) rs1841683382
NM_014908.4(DOLK):c.325C>A (p.Arg109Ser) rs755188614
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly) rs755188614
NM_014908.4(DOLK):c.325C>T (p.Arg109Cys) rs755188614
NM_014908.4(DOLK):c.330T>G (p.Phe110Leu)
NM_014908.4(DOLK):c.332G>A (p.Gly111Asp)
NM_014908.4(DOLK):c.339G>A (p.Val113=) rs2131128893
NM_014908.4(DOLK):c.34C>A (p.Pro12Thr) rs2131129450
NM_014908.4(DOLK):c.355A>G (p.Met119Val) rs2131128868
NM_014908.4(DOLK):c.367C>T (p.Leu123Phe)
NM_014908.4(DOLK):c.376T>G (p.Ser126Ala) rs1564546286
NM_014908.4(DOLK):c.387G>A (p.Ala129=) rs761831947
NM_014908.4(DOLK):c.387G>C (p.Ala129=) rs761831947
NM_014908.4(DOLK):c.390C>G (p.Leu130=) rs774441866
NM_014908.4(DOLK):c.390C>T (p.Leu130=)
NM_014908.4(DOLK):c.3G>A (p.Met1Ile) rs1564546510
NM_014908.4(DOLK):c.400C>T (p.Arg134Cys)
NM_014908.4(DOLK):c.407T>C (p.Val136Ala) rs1306944564
NM_014908.4(DOLK):c.409C>T (p.Pro137Ser) rs2131128759
NM_014908.4(DOLK):c.426C>T (p.Val142=) rs1465958631
NM_014908.4(DOLK):c.433G>T (p.Gly145Cys)
NM_014908.4(DOLK):c.446G>A (p.Gly149Asp)
NM_014908.4(DOLK):c.45G>T (p.Pro15=) rs2131129425
NM_014908.4(DOLK):c.460A>G (p.Ile154Val) rs1841679811
NM_014908.4(DOLK):c.464T>C (p.Met155Thr) rs2131128665
NM_014908.4(DOLK):c.46C>T (p.Leu16=) rs933503741
NM_014908.4(DOLK):c.470A>C (p.His157Pro) rs145050630
NM_014908.4(DOLK):c.477G>C (p.Leu159Phe)
NM_014908.4(DOLK):c.481G>T (p.Val161Leu) rs769800558
NM_014908.4(DOLK):c.490G>A (p.Val164Met) rs767933821
NM_014908.4(DOLK):c.495C>A (p.Ile165=) rs149177994
NM_014908.4(DOLK):c.502_522del (p.Leu168_Phe174del)
NM_014908.4(DOLK):c.507A>T (p.Glu169Asp) rs1841678421
NM_014908.4(DOLK):c.516G>A (p.Leu172=)
NM_014908.4(DOLK):c.520T>C (p.Phe174Leu)
NM_014908.4(DOLK):c.521T>G (p.Phe174Cys) rs2131128535
NM_014908.4(DOLK):c.522C>T (p.Phe174=) rs770077124
NM_014908.4(DOLK):c.534C>T (p.Asn178=) rs1201588280
NM_014908.4(DOLK):c.540C>A (p.Ile180=)
NM_014908.4(DOLK):c.543G>T (p.Leu181=)
NM_014908.4(DOLK):c.549C>T (p.Tyr183=)
NM_014908.4(DOLK):c.559C>T (p.Arg187Cys)
NM_014908.4(DOLK):c.560G>A (p.Arg187His) rs377658203
NM_014908.4(DOLK):c.565T>A (p.Phe189Ile) rs2131128464
NM_014908.4(DOLK):c.56C>T (p.Ser19Leu)
NM_014908.4(DOLK):c.572C>G (p.Pro191Arg) rs767965852
NM_014908.4(DOLK):c.591_592dup (p.Leu198fs)
NM_014908.4(DOLK):c.597T>A (p.Gly199=)
NM_014908.4(DOLK):c.59T>G (p.Val20Gly)
NM_014908.4(DOLK):c.611T>C (p.Val204Ala) rs1554826810
NM_014908.4(DOLK):c.61C>T (p.Leu21=)
NM_014908.4(DOLK):c.620A>C (p.Gln207Pro) rs2131128386
NM_014908.4(DOLK):c.621G>T (p.Gln207His) rs1841675660
NM_014908.4(DOLK):c.64G>A (p.Ala22Thr) rs2131129407
NM_014908.4(DOLK):c.656del (p.Gln219fs) rs2131128315
NM_014908.4(DOLK):c.664C>T (p.Pro222Ser)
NM_014908.4(DOLK):c.684GGT[2] (p.Val232del) rs1841674220
NM_014908.4(DOLK):c.693A>G (p.Val231=) rs2131128273
NM_014908.4(DOLK):c.699G>T (p.Gly233=) rs2131128256
NM_014908.4(DOLK):c.702G>A (p.Met234Ile)
NM_014908.4(DOLK):c.702G>C (p.Met234Ile) rs746656818
NM_014908.4(DOLK):c.708C>T (p.Leu236=) rs1177109504
NM_014908.4(DOLK):c.731dup (p.Phe245fs) rs1588262474
NM_014908.4(DOLK):c.732G>A (p.Leu244=)
NM_014908.4(DOLK):c.736G>C (p.Val246Leu) rs1029841868
NM_014908.4(DOLK):c.738C>T (p.Val246=)
NM_014908.4(DOLK):c.743T>C (p.Met248Thr)
NM_014908.4(DOLK):c.747C>T (p.Asp249=) rs2131128124
NM_014908.4(DOLK):c.758G>C (p.Trp253Ser) rs2131128090
NM_014908.4(DOLK):c.771C>G (p.Ile257Met) rs147416890
NM_014908.4(DOLK):c.781C>A (p.Leu261Ile)
NM_014908.4(DOLK):c.787A>T (p.Thr263Ser) rs2131128060
NM_014908.4(DOLK):c.800G>T (p.Ser267Ile)
NM_014908.4(DOLK):c.816A>G (p.Leu272=) rs1841671262
NM_014908.4(DOLK):c.829C>T (p.Arg277Trp) rs1253487442
NM_014908.4(DOLK):c.834C>A (p.Leu278=)
NM_014908.4(DOLK):c.859C>T (p.Leu287Phe) rs1841670200
NM_014908.4(DOLK):c.860TTC[1] (p.Leu288del) rs773789842
NM_014908.4(DOLK):c.864T>C (p.Leu288=)
NM_014908.4(DOLK):c.889C>T (p.Arg297Cys)
NM_014908.4(DOLK):c.890G>A (p.Arg297His)
NM_014908.4(DOLK):c.912G>T (p.Trp304Cys) rs1564545929
NM_014908.4(DOLK):c.915T>C (p.Ser305=) rs2131127826
NM_014908.4(DOLK):c.919C>T (p.Leu307=) rs927774250
NM_014908.4(DOLK):c.931G>T (p.Ala311Ser) rs1554826773
NM_014908.4(DOLK):c.941T>C (p.Val314Ala)
NM_014908.4(DOLK):c.956A>G (p.Asn319Ser)
NM_014908.4(DOLK):c.962A>G (p.Lys321Arg) rs1841666950
NM_014908.4(DOLK):c.964C>G (p.Arg322Gly)
NM_014908.4(DOLK):c.965G>A (p.Arg322Gln)
NM_014908.4(DOLK):c.966G>C (p.Arg322=)
NM_014908.4(DOLK):c.968C>T (p.Ser323Leu) rs2131127724
NM_014908.4(DOLK):c.96G>A (p.Leu32=)
NM_014908.4(DOLK):c.971C>T (p.Ser324Phe)
NM_014908.4(DOLK):c.975C>A (p.Ser325=) rs149462670
NM_014908.4(DOLK):c.975C>G (p.Ser325=)
NM_014908.4(DOLK):c.977A>T (p.Glu326Val) rs1841666209
NM_014908.4(DOLK):c.98G>T (p.Ser33Ile)
NM_014908.4(DOLK):c.993G>C (p.Gln331His) rs1841665962
NM_015354.3(NUP188):c.-13C>T rs3750324
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg) rs794726944
NM_019109.5(ALG1):c.1017_1019dup (p.Gln339dup) rs2142721988
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro) rs267606651
NM_019109.5(ALG1):c.102T>C (p.His34=)
NM_019109.5(ALG1):c.1034C>T (p.Thr345Ile)
NM_019109.5(ALG1):c.1037C>G (p.Pro346Arg) rs398124347
NM_019109.5(ALG1):c.1038C>T (p.Pro346=)
NM_019109.5(ALG1):c.1042C>T (p.Leu348=) rs2142722071
NM_019109.5(ALG1):c.1043T>G (p.Leu348Arg) rs2142722084
NM_019109.5(ALG1):c.1051G>A (p.Glu351Lys)
NM_019109.5(ALG1):c.1056C>G (p.Asp352Glu)
NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp) rs1596259672
NM_019109.5(ALG1):c.1059C>A (p.Tyr353Ter)
NM_019109.5(ALG1):c.1059C>T (p.Tyr353=)
NM_019109.5(ALG1):c.1062C>A (p.Pro354=)
NM_019109.5(ALG1):c.1062C>G (p.Pro354=)
NM_019109.5(ALG1):c.1062C>T (p.Pro354=) rs909468865
NM_019109.5(ALG1):c.1063del (p.Leu355fs) rs758259853
NM_019109.5(ALG1):c.1065G>A (p.Leu355=)
NM_019109.5(ALG1):c.1072+11A>G
NM_019109.5(ALG1):c.1072+12G>A
NM_019109.5(ALG1):c.1072+13C>A
NM_019109.5(ALG1):c.1072+13C>T
NM_019109.5(ALG1):c.1072+16G>A
NM_019109.5(ALG1):c.1072+1G>T
NM_019109.5(ALG1):c.1072+20C>G
NM_019109.5(ALG1):c.1072+20C>T
NM_019109.5(ALG1):c.1072+8G>T
NM_019109.5(ALG1):c.1073-12_1073-11del rs1381566017
NM_019109.5(ALG1):c.1073-14C>T
NM_019109.5(ALG1):c.1073-19C>T
NM_019109.5(ALG1):c.1073-1G>A
NM_019109.5(ALG1):c.1073-2A>G rs1957033825
NM_019109.5(ALG1):c.1073G>C (p.Gly358Ala)
NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu) rs1299775990
NM_019109.5(ALG1):c.1080G>C (p.Ala360=)
NM_019109.5(ALG1):c.1080G>T (p.Ala360=) rs143939207
NM_019109.5(ALG1):c.1081G>T (p.Asp361Tyr) rs2142725570
NM_019109.5(ALG1):c.1086G>C (p.Leu362=)
NM_019109.5(ALG1):c.1090G>A (p.Val364Ile)
NM_019109.5(ALG1):c.1091_1092delinsGG (p.Val364Gly) rs2142725608
NM_019109.5(ALG1):c.1095T>A (p.Cys365Ter)
NM_019109.5(ALG1):c.1095_1098del (p.Leu366fs)
NM_019109.5(ALG1):c.1097T>A (p.Leu366Gln) rs1596261208
NM_019109.5(ALG1):c.1098G>C (p.Leu366=)
NM_019109.5(ALG1):c.1117C>T (p.Leu373=)
NM_019109.5(ALG1):c.1128C>A (p.Pro376=)
NM_019109.5(ALG1):c.1136T>G (p.Val379Gly) rs1555452573
NM_019109.5(ALG1):c.1140G>A (p.Val380=) rs2142725780
NM_019109.5(ALG1):c.1143C>T (p.Asp381=) rs753000258
NM_019109.5(ALG1):c.1144A>G (p.Met382Val)
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr) rs1596261268
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg) rs1057520122
NM_019109.5(ALG1):c.115del (p.Val39fs) rs886042130
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser) rs398124349
NM_019109.5(ALG1):c.1163C>T (p.Pro388Leu)
NM_019109.5(ALG1):c.1165G>A (p.Val389Met) rs2142725866
NM_019109.5(ALG1):c.1166T>C (p.Val389Ala) rs1394994402
NM_019109.5(ALG1):c.1182C>G (p.Phe394Leu) rs1386102245
NM_019109.5(ALG1):c.1187+12A>G
NM_019109.5(ALG1):c.1187+13C>A
NM_019109.5(ALG1):c.1187+14C>T
NM_019109.5(ALG1):c.1187+15C>G
NM_019109.5(ALG1):c.1187+17A>C
NM_019109.5(ALG1):c.1187+9A>G
NM_019109.5(ALG1):c.1188-10C>G
NM_019109.5(ALG1):c.1188-13G>C
NM_019109.5(ALG1):c.1188-14G>C
NM_019109.5(ALG1):c.1188-17C>G
NM_019109.5(ALG1):c.1188-1G>A rs2142728485
NM_019109.5(ALG1):c.1188-8C>G
NM_019109.5(ALG1):c.1188-8C>T
NM_019109.5(ALG1):c.1188T>A (p.Cys396Ter) rs387906927
NM_019109.5(ALG1):c.1193A>G (p.His398Arg) rs1292094188
NM_019109.5(ALG1):c.1199T>G (p.Leu400Arg)
NM_019109.5(ALG1):c.119T>C (p.Leu40Pro) rs2142698518
NM_019109.5(ALG1):c.11C>A (p.Ser4Ter)
NM_019109.5(ALG1):c.11C>T (p.Ser4Leu)
NM_019109.5(ALG1):c.1200G>T (p.Leu400=)
NM_019109.5(ALG1):c.1203G>A (p.Val401=)
NM_019109.5(ALG1):c.1208A>C (p.His403Pro)
NM_019109.5(ALG1):c.120G>C (p.Leu40=)
NM_019109.5(ALG1):c.1210GAA[1] (p.Glu405del)
NM_019109.5(ALG1):c.1227C>G (p.Val409=)
NM_019109.5(ALG1):c.1236C>T (p.Asp412=)
NM_019109.5(ALG1):c.123C>G (p.Gly41=)
NM_019109.5(ALG1):c.123C>T (p.Gly41=)
NM_019109.5(ALG1):c.1250C>G (p.Ala417Gly)
NM_019109.5(ALG1):c.1252G>T (p.Ala418Ser)
NM_019109.5(ALG1):c.1255C>T (p.Gln419Ter)
NM_019109.5(ALG1):c.1257G>C (p.Gln419His) rs2142728655
NM_019109.5(ALG1):c.1260G>A (p.Leu420=)
NM_019109.5(ALG1):c.1263+10T>G
NM_019109.5(ALG1):c.1263+13G>C
NM_019109.5(ALG1):c.1263+14C>T
NM_019109.5(ALG1):c.1263+17C>T rs1567172251
NM_019109.5(ALG1):c.1263+2T>C
NM_019109.5(ALG1):c.1263+8C>A
NM_019109.5(ALG1):c.1263+9G>A
NM_019109.5(ALG1):c.1263G>A (p.Gln421=)
NM_019109.5(ALG1):c.1272C>T (p.Phe424=)
NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys) rs1957090242
NM_019109.5(ALG1):c.1287_1288delinsAA (p.Asp429_Pro430delinsGluThr) rs2142732373
NM_019109.5(ALG1):c.1292C>T (p.Ala431Val) rs370439294
NM_019109.5(ALG1):c.12A>G (p.Ser4=)
NM_019109.5(ALG1):c.12A>T (p.Ser4=)
NM_019109.5(ALG1):c.1302A>T (p.Leu434=)
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter) rs1261895166
NM_019109.5(ALG1):c.1314G>C (p.Arg438=)
NM_019109.5(ALG1):c.1317G>A (p.Lys439=)
NM_019109.5(ALG1):c.131G>T (p.Gly44Val)
NM_019109.5(ALG1):c.1324C>A (p.Arg442=)
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln) rs758197753
NM_019109.5(ALG1):c.1326G>A (p.Arg442=)
NM_019109.5(ALG1):c.1327G>A (p.Glu443Lys) rs540792178
NM_019109.5(ALG1):c.1329G>A (p.Glu443=)
NM_019109.5(ALG1):c.132C>T (p.Gly44=)
NM_019109.5(ALG1):c.1332G>A (p.Ser444=) rs554183734
NM_019109.5(ALG1):c.1335G>A (p.Gln445=)
NM_019109.5(ALG1):c.1341C>G (p.Leu447=)
NM_019109.5(ALG1):c.1342C>T (p.Arg448Ter) rs1047747
NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln)
NM_019109.5(ALG1):c.1344A>G (p.Arg448=)
NM_019109.5(ALG1):c.1345T>C (p.Trp449Arg) rs144047909
NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly)
NM_019109.5(ALG1):c.1358G>T (p.Trp453Leu)
NM_019109.5(ALG1):c.1365G>A (p.Gln455=)
NM_019109.5(ALG1):c.1365G>C (p.Gln455His)
NM_019109.5(ALG1):c.1368T>A (p.Thr456=) rs1455567093
NM_019109.5(ALG1):c.1369G>A (p.Val457Met)
NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu)
NM_019109.5(ALG1):c.1385T>C (p.Met462Thr) rs1957097146
NM_019109.5(ALG1):c.1392A>G (p.Thr464=)
NM_019109.5(ALG1):c.13T>C (p.Cys5Arg) rs752179113
NM_019109.5(ALG1):c.13T>G (p.Cys5Gly)
NM_019109.5(ALG1):c.156C>T (p.His52=)
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter) rs752922461
NM_019109.5(ALG1):c.15C>T (p.Cys5=)
NM_019109.5(ALG1):c.160C>G (p.Leu54Val) rs1956824877
NM_019109.5(ALG1):c.160C>T (p.Leu54=)
NM_019109.5(ALG1):c.162G>T (p.Leu54=) rs2142698659
NM_019109.5(ALG1):c.164dup (p.Leu56fs)
NM_019109.5(ALG1):c.165G>C (p.Ser55=) rs2142698676
NM_019109.5(ALG1):c.169G>A (p.Ala57Thr)
NM_019109.5(ALG1):c.169G>T (p.Ala57Ser)
NM_019109.5(ALG1):c.16T>C (p.Leu6=)
NM_019109.5(ALG1):c.173T>C (p.Met58Thr)
NM_019109.5(ALG1):c.176A>C (p.His59Pro) rs773372110
NM_019109.5(ALG1):c.176A>G (p.His59Arg) rs773372110
NM_019109.5(ALG1):c.177C>T (p.His59=)
NM_019109.5(ALG1):c.183C>T (p.Phe61=)
NM_019109.5(ALG1):c.185C>A (p.Ser62Ter)
NM_019109.5(ALG1):c.189G>A (p.Val63=) rs2142698777
NM_019109.5(ALG1):c.18G>T (p.Leu6Phe) rs758274229
NM_019109.5(ALG1):c.191C>T (p.Thr64Ile) rs145474820
NM_019109.5(ALG1):c.193C>T (p.Leu65Phe)
NM_019109.5(ALG1):c.19G>C (p.Val7Leu)
NM_019109.5(ALG1):c.200G>T (p.Gly67Val) rs778626972
NM_019109.5(ALG1):c.201G>C (p.Gly67=)
NM_019109.5(ALG1):c.204C>T (p.Phe68=) rs545347166
NM_019109.5(ALG1):c.208+135dup rs34061670
NM_019109.5(ALG1):c.208+13G>C
NM_019109.5(ALG1):c.208+14G>A
NM_019109.5(ALG1):c.208+16_208+19dup rs35400794
NM_019109.5(ALG1):c.208+17_208+18insCGTC
NM_019109.5(ALG1):c.208+18_208+19insATCT
NM_019109.5(ALG1):c.208+18_208+19insTTCT
NM_019109.5(ALG1):c.208+19G>A
NM_019109.5(ALG1):c.208+19_208+20insTATG rs756830715
NM_019109.5(ALG1):c.208+19_208+20insTTTG
NM_019109.5(ALG1):c.208+1G>A
NM_019109.5(ALG1):c.208+1G>C rs1313166263
NM_019109.5(ALG1):c.209-10C>T rs749446443
NM_019109.5(ALG1):c.209-14T>A rs769870335
NM_019109.5(ALG1):c.209-15A>G
NM_019109.5(ALG1):c.209-16C>T
NM_019109.5(ALG1):c.209-18A>C rs536671036
NM_019109.5(ALG1):c.209-20G>A
NM_019109.5(ALG1):c.209-2A>G rs774618681
NM_019109.5(ALG1):c.209-4T>A
NM_019109.5(ALG1):c.209-4del
NM_019109.5(ALG1):c.210C>T (p.Asn70=) rs1376984579
NM_019109.5(ALG1):c.212C>G (p.Ser71Cys)
NM_019109.5(ALG1):c.213C>G (p.Ser71=)
NM_019109.5(ALG1):c.21C>G (p.Val7=)
NM_019109.5(ALG1):c.225T>A (p.Asp75Glu) rs1205327334
NM_019109.5(ALG1):c.228G>A (p.Glu76=)
NM_019109.5(ALG1):c.231C>G (p.Leu77=)
NM_019109.5(ALG1):c.235C>T (p.Gln79Ter)
NM_019109.5(ALG1):c.238A>C (p.Asn80His)
NM_019109.5(ALG1):c.238A>G (p.Asn80Asp) rs755346143
NM_019109.5(ALG1):c.240C>G (p.Asn80Lys)
NM_019109.5(ALG1):c.244A>C (p.Arg82=)
NM_019109.5(ALG1):c.254T>C (p.Ile85Thr)
NM_019109.5(ALG1):c.258G>C (p.Val86=)
NM_019109.5(ALG1):c.25C>G (p.Leu9Val)
NM_019109.5(ALG1):c.25C>T (p.Leu9=) rs771370322
NM_019109.5(ALG1):c.261G>A (p.Gly87=)
NM_019109.5(ALG1):c.267A>C (p.Thr89=) rs768454735
NM_019109.5(ALG1):c.267A>G (p.Thr89=)
NM_019109.5(ALG1):c.267A>T (p.Thr89=) rs768454735
NM_019109.5(ALG1):c.27G>A (p.Leu9=)
NM_019109.5(ALG1):c.27G>C (p.Leu9=)
NM_019109.5(ALG1):c.27G>T (p.Leu9=)
NM_019109.5(ALG1):c.283G>A (p.Ala95Thr)
NM_019109.5(ALG1):c.286+10C>G
NM_019109.5(ALG1):c.286+11G>A rs1475023645
NM_019109.5(ALG1):c.286+15A>G
NM_019109.5(ALG1):c.286+16C>A
NM_019109.5(ALG1):c.286+16C>T
NM_019109.5(ALG1):c.286+20A>G
NM_019109.5(ALG1):c.286+8G>A rs375987369
NM_019109.5(ALG1):c.286+8G>T
NM_019109.5(ALG1):c.287-10T>C
NM_019109.5(ALG1):c.287-12T>C
NM_019109.5(ALG1):c.287-12_289del rs2142701800
NM_019109.5(ALG1):c.287-18G>A rs1567166306
NM_019109.5(ALG1):c.287-19G>A
NM_019109.5(ALG1):c.287-7C>G
NM_019109.5(ALG1):c.287-9G>T
NM_019109.5(ALG1):c.287T>A (p.Val96Asp) rs534863399
NM_019109.5(ALG1):c.287T>G (p.Val96Gly) rs534863399
NM_019109.5(ALG1):c.288T>C (p.Val96=)
NM_019109.5(ALG1):c.28_45dup (p.Leu15_Pro16insAlaLeuCysLeuLeuLeu)
NM_019109.5(ALG1):c.292C>G (p.Pro98Ala) rs1252818613
NM_019109.5(ALG1):c.292C>T (p.Pro98Ser)
NM_019109.5(ALG1):c.293C>T (p.Pro98Leu) rs1596252105
NM_019109.5(ALG1):c.29C>A (p.Ala10Glu) rs767455250
NM_019109.5(ALG1):c.301_302dup (p.Gln102fs)
NM_019109.5(ALG1):c.309C>G (p.Tyr103Ter) rs199553558
NM_019109.5(ALG1):c.30G>A (p.Ala10=)
NM_019109.5(ALG1):c.30G>C (p.Ala10=)
NM_019109.5(ALG1):c.30G>T (p.Ala10=)
NM_019109.5(ALG1):c.310G>A (p.Gly104Arg) rs992880561
NM_019109.5(ALG1):c.312A>C (p.Gly104=)
NM_019109.5(ALG1):c.317A>C (p.Lys106Thr)
NM_019109.5(ALG1):c.318dup (p.Val107fs)
NM_019109.5(ALG1):c.31C>T (p.Leu11=)
NM_019109.5(ALG1):c.324A>G (p.Val108=)
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter) rs776990436
NM_019109.5(ALG1):c.33G>T (p.Leu11=)
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup) rs1436106795
NM_019109.5(ALG1):c.363G>A (p.Arg121=)
NM_019109.5(ALG1):c.366G>A (p.Glu122=)
NM_019109.5(ALG1):c.368C>G (p.Pro123Arg)
NM_019109.5(ALG1):c.369A>G (p.Pro123=)
NM_019109.5(ALG1):c.372T>C (p.Gly124=)
NM_019109.5(ALG1):c.377A>T (p.Tyr126Phe) rs200094659
NM_019109.5(ALG1):c.387C>G (p.Leu129=)
NM_019109.5(ALG1):c.390+11G>A
NM_019109.5(ALG1):c.390+11G>C
NM_019109.5(ALG1):c.390+13C>A rs62036244
NM_019109.5(ALG1):c.390+13C>G
NM_019109.5(ALG1):c.390+13C>T rs62036244
NM_019109.5(ALG1):c.390+15C>T
NM_019109.5(ALG1):c.390+17G>A
NM_019109.5(ALG1):c.390+18C>T
NM_019109.5(ALG1):c.390+3G>T
NM_019109.5(ALG1):c.390+5G>A
NM_019109.5(ALG1):c.390+6T>G rs2142702237
NM_019109.5(ALG1):c.390+9C>T
NM_019109.5(ALG1):c.391-12T>C
NM_019109.5(ALG1):c.391-13C>T
NM_019109.5(ALG1):c.391-16T>C
NM_019109.5(ALG1):c.391-17G>C
NM_019109.5(ALG1):c.391-20C>T
NM_019109.5(ALG1):c.391-2A>G
NM_019109.5(ALG1):c.391-5C>T
NM_019109.5(ALG1):c.393C>T (p.Asn131=)
NM_019109.5(ALG1):c.396C>T (p.Pro132=)
NM_019109.5(ALG1):c.398_399insCA (p.Gly134fs) rs1956891979
NM_019109.5(ALG1):c.399A>G (p.Pro133=) rs200506666
NM_019109.5(ALG1):c.39G>A (p.Leu13=) rs751409028
NM_019109.5(ALG1):c.39G>C (p.Leu13=) rs751409028
NM_019109.5(ALG1):c.40C>T (p.Leu14=)
NM_019109.5(ALG1):c.40_41insAGCTGC (p.Leu13_Leu14insGlnLeu)
NM_019109.5(ALG1):c.415G>A (p.Ala139Thr)
NM_019109.5(ALG1):c.415G>T (p.Ala139Ser)
NM_019109.5(ALG1):c.42G>T (p.Leu14=)
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019109.5(ALG1):c.437G>C (p.Cys146Ser) rs1956892771
NM_019109.5(ALG1):c.43C>T (p.Leu15=)
NM_019109.5(ALG1):c.440T>A (p.Leu147His)
NM_019109.5(ALG1):c.450C>A (p.Ser150Arg) rs121908340
NM_019109.5(ALG1):c.456C>T (p.Leu152=) rs764878109
NM_019109.5(ALG1):c.468G>C (p.Trp156Cys) rs2142707214
NM_019109.5(ALG1):c.47_58dup (p.Pro16_Leu19dup) rs1414667961
NM_019109.5(ALG1):c.486dup (p.Ile163fs)
NM_019109.5(ALG1):c.487A>T (p.Ile163Phe) rs2142707280
NM_019109.5(ALG1):c.493G>C (p.Gly165Arg) rs1192356042
NM_019109.5(ALG1):c.494G>C (p.Gly165Ala)
NM_019109.5(ALG1):c.494G>T (p.Gly165Val)
NM_019109.5(ALG1):c.496C>T (p.Leu166=)
NM_019109.5(ALG1):c.49C>T (p.Leu17=)
NM_019109.5(ALG1):c.49CTG[5] (p.Leu20dup) rs760240522
NM_019109.5(ALG1):c.506G>A (p.Gly169Asp) rs2142707365
NM_019109.5(ALG1):c.507C>T (p.Gly169=)
NM_019109.5(ALG1):c.512dup (p.Asn171fs)
NM_019109.5(ALG1):c.514C>A (p.His172Asn)
NM_019109.5(ALG1):c.514C>T (p.His172Tyr)
NM_019109.5(ALG1):c.523G>A (p.Val175Ile)
NM_019109.5(ALG1):c.523G>T (p.Val175Phe) rs762783729
NM_019109.5(ALG1):c.525T>G (p.Val175=)
NM_019109.5(ALG1):c.529C>G (p.Leu177Val) rs200194917
NM_019109.5(ALG1):c.531G>T (p.Leu177=)
NM_019109.5(ALG1):c.534C>T (p.Ala178=)
NM_019109.5(ALG1):c.539+10T>C
NM_019109.5(ALG1):c.539+19G>A
NM_019109.5(ALG1):c.539+1G>A
NM_019109.5(ALG1):c.539+20G>A
NM_019109.5(ALG1):c.539+7G>T
NM_019109.5(ALG1):c.539+9C>G
NM_019109.5(ALG1):c.539_539+1delinsTC
NM_019109.5(ALG1):c.53T>C (p.Leu18Pro)
NM_019109.5(ALG1):c.540-14A>T rs750808125
NM_019109.5(ALG1):c.540-20C>G
NM_019109.5(ALG1):c.540-2A>T
NM_019109.5(ALG1):c.540-8C>T rs2142712041
NM_019109.5(ALG1):c.543C>G (p.Tyr181Ter)
NM_019109.5(ALG1):c.54G>A (p.Leu18=)
NM_019109.5(ALG1):c.558G>T (p.Gly186=)
NM_019109.5(ALG1):c.559C>T (p.Arg187Cys)
NM_019109.5(ALG1):c.55C>T (p.Leu19=)
NM_019109.5(ALG1):c.562C>A (p.Leu188Met)
NM_019109.5(ALG1):c.562C>T (p.Leu188=) rs2142712145
NM_019109.5(ALG1):c.564G>C (p.Leu188=)
NM_019109.5(ALG1):c.564G>T (p.Leu188=)
NM_019109.5(ALG1):c.567C>T (p.Ser189=)
NM_019109.5(ALG1):c.568C>A (p.His190Asn) rs771904667
NM_019109.5(ALG1):c.577C>T (p.Leu193=)
NM_019109.5(ALG1):c.580T>C (p.Cys194Arg)
NM_019109.5(ALG1):c.583G>T (p.Val195Phe) rs2142712225
NM_019109.5(ALG1):c.588C>G (p.Thr196=)
NM_019109.5(ALG1):c.590A>C (p.Asn197Thr)
NM_019109.5(ALG1):c.591T>A (p.Asn197Lys) rs1956934637
NM_019109.5(ALG1):c.593C>G (p.Ala198Gly)
NM_019109.5(ALG1):c.602A>C (p.Glu201Ala)
NM_019109.5(ALG1):c.604G>T (p.Asp202Tyr) rs1239003111
NM_019109.5(ALG1):c.609G>C (p.Leu203=)
NM_019109.5(ALG1):c.612G>A (p.Ala204=)
NM_019109.5(ALG1):c.61G>T (p.Gly21Ter)
NM_019109.5(ALG1):c.624C>T (p.His208=)
NM_019109.5(ALG1):c.629+11C>G
NM_019109.5(ALG1):c.629+13G>A
NM_019109.5(ALG1):c.629+16A>G
NM_019109.5(ALG1):c.629+17T>C
NM_019109.5(ALG1):c.629+17_629+32dup
NM_019109.5(ALG1):c.629+19A>G
NM_019109.5(ALG1):c.629+20_629+34del
NM_019109.5(ALG1):c.629+7T>C
NM_019109.5(ALG1):c.629+9G>T
NM_019109.5(ALG1):c.630-13G>A rs559171127
NM_019109.5(ALG1):c.630-13G>C rs559171127
NM_019109.5(ALG1):c.630-16C>T
NM_019109.5(ALG1):c.630-18G>A rs545873278
NM_019109.5(ALG1):c.630-18G>T
NM_019109.5(ALG1):c.630-19C>A
NM_019109.5(ALG1):c.630-19C>T rs371014838
NM_019109.5(ALG1):c.630-20C>T
NM_019109.5(ALG1):c.630-2A>G
NM_019109.5(ALG1):c.630-5T>C
NM_019109.5(ALG1):c.630-7A>G
NM_019109.5(ALG1):c.639C>A (p.Thr213=)
NM_019109.5(ALG1):c.645C>G (p.Tyr215Ter)
NM_019109.5(ALG1):c.645C>T (p.Tyr215=)
NM_019109.5(ALG1):c.654C>A (p.Pro218=)
NM_019109.5(ALG1):c.654C>G (p.Pro218=)
NM_019109.5(ALG1):c.657A>T (p.Ala219=)
NM_019109.5(ALG1):c.672G>A (p.Glu224=)
NM_019109.5(ALG1):c.677C>G (p.Pro226Arg)
NM_019109.5(ALG1):c.679C>G (p.Leu227Val)
NM_019109.5(ALG1):c.684C>T (p.Asp228=)
NM_019109.5(ALG1):c.687G>A (p.Leu229=)
NM_019109.5(ALG1):c.696G>T (p.Arg232=)
NM_019109.5(ALG1):c.699C>G (p.Leu233=)
NM_019109.5(ALG1):c.6G>T (p.Ala2=) rs1340289136
NM_019109.5(ALG1):c.702C>T (p.Phe234=)
NM_019109.5(ALG1):c.710del (p.Leu237fs)
NM_019109.5(ALG1):c.711_726del (p.Gly238fs) rs756236917
NM_019109.5(ALG1):c.717C>T (p.Ser239=) rs1956945310
NM_019109.5(ALG1):c.729G>A (p.Pro243=)
NM_019109.5(ALG1):c.739del (p.Arg247fs)
NM_019109.5(ALG1):c.73C>T (p.Arg25Cys) rs1956823060
NM_019109.5(ALG1):c.740+10C>T
NM_019109.5(ALG1):c.740+16T>A
NM_019109.5(ALG1):c.740+1G>A
NM_019109.5(ALG1):c.740+20C>T
NM_019109.5(ALG1):c.740+6C>T
NM_019109.5(ALG1):c.740G>T (p.Arg247Leu)
NM_019109.5(ALG1):c.740_740+5delinsTGTAGA
NM_019109.5(ALG1):c.741-12C>G
NM_019109.5(ALG1):c.741-12dup
NM_019109.5(ALG1):c.741-13del rs749328532
NM_019109.5(ALG1):c.741-13dup
NM_019109.5(ALG1):c.741-15T>C
NM_019109.5(ALG1):c.741-20C>T
NM_019109.5(ALG1):c.741-6C>T
NM_019109.5(ALG1):c.741-8T>C
NM_019109.5(ALG1):c.741-9C>T
NM_019109.5(ALG1):c.743C>G (p.Ser248Ter)
NM_019109.5(ALG1):c.750T>G (p.Pro250=)
NM_019109.5(ALG1):c.756C>G (p.Asp252Glu)
NM_019109.5(ALG1):c.756C>T (p.Asp252=) rs776990267
NM_019109.5(ALG1):c.762C>G (p.Val254=)
NM_019109.5(ALG1):c.768G>A (p.Glu256=)
NM_019109.5(ALG1):c.772_789dup (p.Ser258_Arg263dup) rs1331794136
NM_019109.5(ALG1):c.774G>A (p.Ser258=)
NM_019109.5(ALG1):c.783G>A (p.Thr261=)
NM_019109.5(ALG1):c.786del (p.Glu262fs)
NM_019109.5(ALG1):c.788G>A (p.Arg263Gln) rs1308969550
NM_019109.5(ALG1):c.791_804del (p.Asp264fs) rs2142715856
NM_019109.5(ALG1):c.792T>C (p.Asp264=)
NM_019109.5(ALG1):c.801C>T (p.Ser267=) rs770104406
NM_019109.5(ALG1):c.802G>T (p.Gly268Trp)
NM_019109.5(ALG1):c.809_832del (p.Val270_Pro277del) rs1206167331
NM_019109.5(ALG1):c.813G>A (p.Thr271=)
NM_019109.5(ALG1):c.817C>G (p.Leu273Val)
NM_019109.5(ALG1):c.819C>G (p.Leu273=)
NM_019109.5(ALG1):c.819C>T (p.Leu273=) rs1292939104
NM_019109.5(ALG1):c.823G>C (p.Glu275Gln)
NM_019109.5(ALG1):c.828G>A (p.Arg276=) rs2142716095
NM_019109.5(ALG1):c.832G>A (p.Ala278Thr) rs1364564952
NM_019109.5(ALG1):c.834C>T (p.Ala278=)
NM_019109.5(ALG1):c.835C>G (p.Leu279Val) rs1057520106
NM_019109.5(ALG1):c.835C>T (p.Leu279=)
NM_019109.5(ALG1):c.837G>C (p.Leu279=)
NM_019109.5(ALG1):c.83G>C (p.Arg28Pro)
NM_019109.5(ALG1):c.851C>T (p.Thr284Met)
NM_019109.5(ALG1):c.852G>A (p.Thr284=)
NM_019109.5(ALG1):c.862+12C>T
NM_019109.5(ALG1):c.863-10C>T
NM_019109.5(ALG1):c.863-11T>C
NM_019109.5(ALG1):c.863-12C>G
NM_019109.5(ALG1):c.863-15A>C rs371947976
NM_019109.5(ALG1):c.863-15A>T
NM_019109.5(ALG1):c.863-17C>A
NM_019109.5(ALG1):c.863-17C>G
NM_019109.5(ALG1):c.863-3T>A
NM_019109.5(ALG1):c.863-3T>C rs1208866677
NM_019109.5(ALG1):c.863-8T>C
NM_019109.5(ALG1):c.872A>G (p.Asp291Gly) rs192564717
NM_019109.5(ALG1):c.872A>T (p.Asp291Val) rs192564717
NM_019109.5(ALG1):c.873C>G (p.Asp291Glu)
NM_019109.5(ALG1):c.875del (p.Phe292fs)
NM_019109.5(ALG1):c.876C>G (p.Phe292Leu) rs1009298200
NM_019109.5(ALG1):c.877T>C (p.Ser293Pro) rs1555452127
NM_019109.5(ALG1):c.877_879del (p.Ser293del) rs776453756
NM_019109.5(ALG1):c.878C>G (p.Ser293Cys) rs1421613066
NM_019109.5(ALG1):c.879C>T (p.Ser293=)
NM_019109.5(ALG1):c.87G>T (p.Gly29=) rs754060914
NM_019109.5(ALG1):c.87_91del (p.Arg30fs)
NM_019109.5(ALG1):c.883C>T (p.Leu295=)
NM_019109.5(ALG1):c.885G>C (p.Leu295=)
NM_019109.5(ALG1):c.885G>T (p.Leu295=)
NM_019109.5(ALG1):c.889G>T (p.Ala297Ser) rs2142716887
NM_019109.5(ALG1):c.88C>A (p.Arg30=)
NM_019109.5(ALG1):c.898G>T (p.Glu300Ter)
NM_019109.5(ALG1):c.901+13C>T
NM_019109.5(ALG1):c.901+16C>T
NM_019109.5(ALG1):c.901+17G>A
NM_019109.5(ALG1):c.901+18G>C
NM_019109.5(ALG1):c.901+18G>T
NM_019109.5(ALG1):c.901+20G>T
NM_019109.5(ALG1):c.901+5G>T
NM_019109.5(ALG1):c.901A>C (p.Lys301Gln) rs753600353
NM_019109.5(ALG1):c.901A>G (p.Lys301Glu) rs753600353
NM_019109.5(ALG1):c.902-10C>G
NM_019109.5(ALG1):c.902-16C>G
NM_019109.5(ALG1):c.902-17T>C
NM_019109.5(ALG1):c.902-20G>C
NM_019109.5(ALG1):c.902-5C>T rs1956983341
NM_019109.5(ALG1):c.902-8A>G
NM_019109.5(ALG1):c.912A>G (p.Gln304=)
NM_019109.5(ALG1):c.91del (p.Ala31fs)
NM_019109.5(ALG1):c.920_921del (p.Leu307fs)
NM_019109.5(ALG1):c.921T>C (p.Leu307=)
NM_019109.5(ALG1):c.921T>G (p.Leu307=)
NM_019109.5(ALG1):c.927A>G (p.Gly309=)
NM_019109.5(ALG1):c.930C>T (p.His310=)
NM_019109.5(ALG1):c.931A>G (p.Asn311Asp)
NM_019109.5(ALG1):c.946G>A (p.Val316Ile) rs150272167
NM_019109.5(ALG1):c.946G>C (p.Val316Leu)
NM_019109.5(ALG1):c.950G>C (p.Cys317Ser) rs373396169
NM_019109.5(ALG1):c.950G>T (p.Cys317Phe)
NM_019109.5(ALG1):c.951T>C (p.Cys317=)
NM_019109.5(ALG1):c.954G>A (p.Val318=) rs1291495506
NM_019109.5(ALG1):c.954G>C (p.Val318=)
NM_019109.5(ALG1):c.95C>A (p.Ala32Asp) rs376723766
NM_019109.5(ALG1):c.961+14C>A
NM_019109.5(ALG1):c.961+16C>G
NM_019109.5(ALG1):c.961+19G>T
NM_019109.5(ALG1):c.961+1G>A
NM_019109.5(ALG1):c.961+1G>C rs373355236
NM_019109.5(ALG1):c.961+20G>A
NM_019109.5(ALG1):c.961+4C>G rs2142718757
NM_019109.5(ALG1):c.961+8C>G rs371353008
NM_019109.5(ALG1):c.961+8C>T rs371353008
NM_019109.5(ALG1):c.961+9T>C
NM_019109.5(ALG1):c.962-12T>C
NM_019109.5(ALG1):c.962-18C>T
NM_019109.5(ALG1):c.964A>C (p.Lys322Gln)
NM_019109.5(ALG1):c.965A>T (p.Lys322Ile) rs145851409
NM_019109.5(ALG1):c.969G>A (p.Gly323=)
NM_019109.5(ALG1):c.969G>T (p.Gly323=)
NM_019109.5(ALG1):c.969del (p.Pro324fs)
NM_019109.5(ALG1):c.96C>A (p.Ala32=)
NM_019109.5(ALG1):c.96C>G (p.Ala32=)
NM_019109.5(ALG1):c.970C>G (p.Pro324Ala)
NM_019109.5(ALG1):c.975G>C (p.Leu325=)
NM_019109.5(ALG1):c.977G>C (p.Arg326Thr)
NM_019109.5(ALG1):c.979G>A (p.Glu327Lys)
NM_019109.5(ALG1):c.97C>A (p.Arg33=)
NM_019109.5(ALG1):c.97C>T (p.Arg33Trp)
NM_019109.5(ALG1):c.981G>A (p.Glu327=)
NM_019109.5(ALG1):c.987T>C (p.Tyr329=)
NM_019109.5(ALG1):c.988A>G (p.Ser330Gly) rs764029645
NM_019109.5(ALG1):c.994C>G (p.Leu332Val) rs1957007425
NM_019109.5(ALG1):c.996C>T (p.Leu332=)
NM_019109.5(ALG1):c.9C>T (p.Ala3=)
NM_021645.6(UTP14C):c.-193G>T rs1954265263
NM_021645.6(UTP14C):c.-486-14G>T rs752238208
NM_021645.6(UTP14C):c.-486-7T>C rs2140846961
NM_021645.6(UTP14C):c.1781T>C (p.Ile594Thr)
NM_021645.6(UTP14C):c.83G>A (p.Ser28Asn) rs886050314
NM_024079.5(ALG8):c.1020C>T (p.Cys340=)
NM_024079.5(ALG8):c.1028T>C (p.Ile343Thr)
NM_024079.5(ALG8):c.1038+16A>G
NM_024079.5(ALG8):c.1039-19C>G
NM_024079.5(ALG8):c.103A>G (p.Thr35Ala)
NM_024079.5(ALG8):c.1116C>T (p.Ser372=)
NM_024079.5(ALG8):c.1123A>G (p.Met375Val)
NM_024079.5(ALG8):c.115G>T (p.Val39Leu)
NM_024079.5(ALG8):c.1162G>C (p.Ala388Pro)
NM_024079.5(ALG8):c.1168C>A (p.Leu390Ile)
NM_024079.5(ALG8):c.1219_1220del (p.Leu407fs) rs2136876881
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter) rs200888240
NM_024079.5(ALG8):c.1227G>C (p.Leu409=) rs1590803789
NM_024079.5(ALG8):c.1274C>A (p.Pro425Gln)
NM_024079.5(ALG8):c.1277-10_1277-8del rs764468497
NM_024079.5(ALG8):c.1277-16del
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met) rs376704970
NM_024079.5(ALG8):c.1298_1334dup (p.Leu445_Lys446insHisValThrIleHisHisIleTer)
NM_024079.5(ALG8):c.1301T>G (p.Met434Arg)
NM_024079.5(ALG8):c.1328C>T (p.Ser443Leu)
NM_024079.5(ALG8):c.1347C>T (p.Phe449=)
NM_024079.5(ALG8):c.1353dup (p.Glu452fs)
NM_024079.5(ALG8):c.1356A>G (p.Glu452=)
NM_024079.5(ALG8):c.1369A>G (p.Asn457Asp) rs2136868764
NM_024079.5(ALG8):c.136A>G (p.Ile46Val)
NM_024079.5(ALG8):c.1386C>T (p.Phe462=)
NM_024079.5(ALG8):c.1393C>T (p.Leu465Phe) rs2136868701
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro) rs121908293
NM_024079.5(ALG8):c.141_144del (p.His48fs)
NM_024079.5(ALG8):c.1429G>C (p.Val477Leu) rs769413308
NM_024079.5(ALG8):c.143A>G (p.His48Arg) rs1861126453
NM_024079.5(ALG8):c.1443C>G (p.Thr481=) rs746756065
NM_024079.5(ALG8):c.1443C>T (p.Thr481=)
NM_024079.5(ALG8):c.1463C>G (p.Pro488Arg) rs758549233
NM_024079.5(ALG8):c.1467C>T (p.Phe489=)
NM_024079.5(ALG8):c.1485C>G (p.Thr495=)
NM_024079.5(ALG8):c.1511C>G (p.Thr504Arg) rs2136868362
NM_024079.5(ALG8):c.1533T>A (p.Tyr511Ter) rs1859771094
NM_024079.5(ALG8):c.1540G>A (p.Val514Ile)
NM_024079.5(ALG8):c.1554T>C (p.Ser518=)
NM_024079.5(ALG8):c.174+2del
NM_024079.5(ALG8):c.174+30del rs59662312
NM_024079.5(ALG8):c.191C>T (p.Thr64Met)
NM_024079.5(ALG8):c.192G>A (p.Thr64=)
NM_024079.5(ALG8):c.19G>A (p.Ala7Thr) rs1861709687
NM_024079.5(ALG8):c.206C>T (p.Pro69Leu) rs748962880
NM_024079.5(ALG8):c.230T>C (p.Ile77Thr)
NM_024079.5(ALG8):c.259C>T (p.Gln87Ter)
NM_024079.5(ALG8):c.320G>T (p.Arg107Ile)
NM_024079.5(ALG8):c.345A>C (p.Val115=)
NM_024079.5(ALG8):c.354G>A (p.Val118=)
NM_024079.5(ALG8):c.364C>T (p.Arg122Cys)
NM_024079.5(ALG8):c.368+13C>A
NM_024079.5(ALG8):c.368+16G>T
NM_024079.5(ALG8):c.368+1G>A
NM_024079.5(ALG8):c.369-6A>G rs201483866
NM_024079.5(ALG8):c.389G>A (p.Gly130Glu)
NM_024079.5(ALG8):c.396dup (p.Val133fs) rs753631154
NM_024079.5(ALG8):c.413del (p.Thr138fs) rs387906277
NM_024079.5(ALG8):c.435G>A (p.Leu145=)
NM_024079.5(ALG8):c.438G>A (p.Ser146=)
NM_024079.5(ALG8):c.441A>G (p.Val147=)
NM_024079.5(ALG8):c.441A>T (p.Val147=) rs112109685
NM_024079.5(ALG8):c.446T>C (p.Leu149Pro)
NM_024079.5(ALG8):c.478+6C>T
NM_024079.5(ALG8):c.478C>T (p.His160Tyr)
NM_024079.5(ALG8):c.479A>T (p.His160Leu) rs2136915887
NM_024079.5(ALG8):c.482T>C (p.Ile161Thr)
NM_024079.5(ALG8):c.504T>C (p.Phe168=)
NM_024079.5(ALG8):c.517A>G (p.Met173Val) rs146425128
NM_024079.5(ALG8):c.52G>T (p.Ala18Ser)
NM_024079.5(ALG8):c.54G>T (p.Ala18=)
NM_024079.5(ALG8):c.552G>T (p.Arg184Ser)
NM_024079.5(ALG8):c.554A>G (p.His185Arg)
NM_024079.5(ALG8):c.568T>G (p.Phe190Val) rs1860461907
NM_024079.5(ALG8):c.588A>G (p.Leu196=) rs562915665
NM_024079.5(ALG8):c.608T>G (p.Leu203Arg)
NM_024079.5(ALG8):c.622G>A (p.Ala208Thr)
NM_024079.5(ALG8):c.643C>A (p.Arg215=)
NM_024079.5(ALG8):c.644G>A (p.Arg215Gln)
NM_024079.5(ALG8):c.647C>G (p.Ser216Cys) rs886048687
NM_024079.5(ALG8):c.671C>A (p.Pro224Gln)
NM_024079.5(ALG8):c.674-20A>C
NM_024079.5(ALG8):c.709C>T (p.Arg237Cys)
NM_024079.5(ALG8):c.739T>C (p.Leu247=)
NM_024079.5(ALG8):c.743T>C (p.Val248Ala)
NM_024079.5(ALG8):c.757T>C (p.Leu253=)
NM_024079.5(ALG8):c.757T>G (p.Leu253Val)
NM_024079.5(ALG8):c.761dup (p.Pro255fs) rs968741434
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr) rs1860433537
NM_024079.5(ALG8):c.793G>A (p.Val265Ile)
NM_024079.5(ALG8):c.799T>C (p.Ser267Pro)
NM_024079.5(ALG8):c.802del (p.Arg268fs) rs2136899636
NM_024079.5(ALG8):c.808T>C (p.Phe270Leu)
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp) rs121908294
NM_024079.5(ALG8):c.824G>T (p.Gly275Val)
NM_024079.5(ALG8):c.824del (p.Gly275fs)
NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser) rs1565349263
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly) rs794727931
NM_024079.5(ALG8):c.859G>A (p.Ala287Thr)
NM_024079.5(ALG8):c.898+10C>T
NM_024079.5(ALG8):c.899-13A>T
NM_024079.5(ALG8):c.903G>C (p.Leu301Phe)
NM_024079.5(ALG8):c.922C>T (p.Pro308Ser)
NM_024079.5(ALG8):c.96-15A>G
NM_024079.5(ALG8):c.96-2A>G rs1555073109
NM_024079.5(ALG8):c.96-6G>A rs199911532
NM_024079.5(ALG8):c.96-9T>G
NM_024079.5(ALG8):c.97C>T (p.His33Tyr)
NM_024079.5(ALG8):c.982G>A (p.Val328Ile) rs2136891638
NM_024079.5(ALG8):c.993A>T (p.Ser331=) rs758856513
NM_024105.4(ALG12):c.*131C>A rs2060526664
NM_024105.4(ALG12):c.*250C>T rs1329225644
NM_024105.4(ALG12):c.*484C>A rs77163946
NM_024105.4(ALG12):c.*486C>A rs1324817015
NM_024105.4(ALG12):c.-203G>A rs9616379
NM_024105.4(ALG12):c.-203G>C rs9616379
NM_024105.4(ALG12):c.-231T>G rs886057617
NM_024105.4(ALG12):c.-43C>T rs886057615
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024105.4(ALG12):c.1008A>C (p.Lys336Asn)
NM_024105.4(ALG12):c.1023C>T (p.Tyr341=)
NM_024105.4(ALG12):c.1024A>C (p.Lys342Gln)
NM_024105.4(ALG12):c.1030G>A (p.Gly344Arg) rs2147580583
NM_024105.4(ALG12):c.1032G>T (p.Gly344=) rs2147580579
NM_024105.4(ALG12):c.1033T>C (p.Ser345Pro) rs2147580574
NM_024105.4(ALG12):c.1041T>C (p.Leu347=) rs2147580566
NM_024105.4(ALG12):c.1047C>G (p.Ile349Met) rs182006999
NM_024105.4(ALG12):c.1047C>T (p.Ile349=) rs182006999
NM_024105.4(ALG12):c.1050A>G (p.Gly350=)
NM_024105.4(ALG12):c.1056C>T (p.Leu352=)
NM_024105.4(ALG12):c.1057G>C (p.Val353Leu)
NM_024105.4(ALG12):c.105G>A (p.Glu35=)
NM_024105.4(ALG12):c.1067C>T (p.Ala356Val) rs866503885
NM_024105.4(ALG12):c.1069G>A (p.Ala357Thr)
NM_024105.4(ALG12):c.1083G>A (p.Thr361=)
NM_024105.4(ALG12):c.1127T>C (p.Met376Thr)
NM_024105.4(ALG12):c.1129C>T (p.Gln377Ter)
NM_024105.4(ALG12):c.1135C>G (p.Leu379Val) rs887422058
NM_024105.4(ALG12):c.1141C>G (p.Gln381Glu)
NM_024105.4(ALG12):c.1149G>A (p.Val383=) rs778616092
NM_024105.4(ALG12):c.1150C>T (p.Pro384Ser)
NM_024105.4(ALG12):c.1152C>T (p.Pro384=)
NM_024105.4(ALG12):c.1156C>G (p.Gln386Glu)
NM_024105.4(ALG12):c.1156dup (p.Gln386fs) rs770711819
NM_024105.4(ALG12):c.1163-13C>T
NM_024105.4(ALG12):c.1163-20G>A
NM_024105.4(ALG12):c.1163-4C>T
NM_024105.4(ALG12):c.1163-9T>C rs2060530812
NM_024105.4(ALG12):c.1171C>T (p.Leu391=)
NM_024105.4(ALG12):c.1176C>T (p.His392=)
NM_024105.4(ALG12):c.1183G>C (p.Val395Leu)
NM_024105.4(ALG12):c.1191C>T (p.Ala397=)
NM_024105.4(ALG12):c.1221A>G (p.Gln407=)
NM_024105.4(ALG12):c.1238+12_1238+24del
NM_024105.4(ALG12):c.1238+14A>C
NM_024105.4(ALG12):c.1238+18C>G rs753109798
NM_024105.4(ALG12):c.1238+5G>T
NM_024105.4(ALG12):c.1238+7T>G rs756526998
NM_024105.4(ALG12):c.1239-17C>A rs2147579777
NM_024105.4(ALG12):c.1239-8T>C
NM_024105.4(ALG12):c.1242C>G (p.Tyr414Ter) rs121907935
NM_024105.4(ALG12):c.1258G>A (p.Val420Met)
NM_024105.4(ALG12):c.1263G>C (p.Gln421His)
NM_024105.4(ALG12):c.1264C>G (p.Pro422Ala)
NM_024105.4(ALG12):c.1266G>A (p.Pro422=) rs771112093
NM_024105.4(ALG12):c.1272A>C (p.Thr424=)
NM_024105.4(ALG12):c.1274G>T (p.Gly425Val)
NM_024105.4(ALG12):c.1280T>C (p.Leu427Pro)
NM_024105.4(ALG12):c.1284A>G (p.Ala428=)
NM_024105.4(ALG12):c.1287C>T (p.Tyr429=)
NM_024105.4(ALG12):c.1288A>C (p.Thr430Pro) rs878852984
NM_024105.4(ALG12):c.1302G>A (p.Met434Ile) rs781494329
NM_024105.4(ALG12):c.1307C>T (p.Ala436Val)
NM_024105.4(ALG12):c.1308G>T (p.Ala436=)
NM_024105.4(ALG12):c.1317G>A (p.Gly439=)
NM_024105.4(ALG12):c.1326C>G (p.Ala442=)
NM_024105.4(ALG12):c.1328T>C (p.Leu443Pro)
NM_024105.4(ALG12):c.1330T>C (p.Tyr444His)
NM_024105.4(ALG12):c.1338C>T (p.Asp446=)
NM_024105.4(ALG12):c.133C>A (p.Leu45Met) rs779888121
NM_024105.4(ALG12):c.133C>T (p.Leu45=)
NM_024105.4(ALG12):c.1347G>A (p.Arg449=)
NM_024105.4(ALG12):c.1353G>C (p.Leu451=)
NM_024105.4(ALG12):c.1369A>G (p.Thr457Ala)
NM_024105.4(ALG12):c.1386G>A (p.Leu462=)
NM_024105.4(ALG12):c.1404C>T (p.Pro468=)
NM_024105.4(ALG12):c.1414G>A (p.Val472Ile)
NM_024105.4(ALG12):c.1425G>A (p.Gln475=)
NM_024105.4(ALG12):c.1439T>C (p.Leu480Pro) rs775856400
NM_024105.4(ALG12):c.1451_1459del (p.Leu484_Arg486del)
NM_024105.4(ALG12):c.1452C>T (p.Leu484=) rs772352960
NM_024105.4(ALG12):c.1456del (p.Arg486fs) rs768823564
NM_024105.4(ALG12):c.1458G>A (p.Arg486=)
NM_024105.4(ALG12):c.1460C>G (p.Pro487Arg)
NM_024105.4(ALG12):c.1463C>T (p.Ser488Phe) rs2060527495
NM_024105.4(ALG12):c.1466G>A (p.Ter489=)
NM_024105.4(ALG12):c.1467A>C (p.Ter489Cys)
NM_024105.4(ALG12):c.160C>T (p.Gln54Ter)
NM_024105.4(ALG12):c.162+10C>A
NM_024105.4(ALG12):c.162+11C>T
NM_024105.4(ALG12):c.162+12del
NM_024105.4(ALG12):c.162+18T>C rs2060593030
NM_024105.4(ALG12):c.163-14C>T
NM_024105.4(ALG12):c.163-19C>T
NM_024105.4(ALG12):c.163-4G>T
NM_024105.4(ALG12):c.163-8C>T
NM_024105.4(ALG12):c.165C>A (p.Tyr55Ter) rs563259198
NM_024105.4(ALG12):c.168C>T (p.Asp56=)
NM_024105.4(ALG12):c.175G>C (p.Glu59Gln)
NM_024105.4(ALG12):c.180C>T (p.Phe60=) rs202026974
NM_024105.4(ALG12):c.189C>A (p.Val63=)
NM_024105.4(ALG12):c.192C>A (p.Val64=)
NM_024105.4(ALG12):c.193C>T (p.Pro65Ser)
NM_024105.4(ALG12):c.200C>T (p.Thr67Met) rs121907931
NM_024105.4(ALG12):c.201G>A (p.Thr67=)
NM_024105.4(ALG12):c.204C>G (p.Phe68Leu) rs2060591785
NM_024105.4(ALG12):c.208G>A (p.Gly70Arg) rs1208318216
NM_024105.4(ALG12):c.21_33dup (p.Leu12fs)
NM_024105.4(ALG12):c.222C>A (p.Ile74=)
NM_024105.4(ALG12):c.222C>T (p.Ile74=)
NM_024105.4(ALG12):c.231C>T (p.Phe77=)
NM_024105.4(ALG12):c.237C>A (p.Ser79Arg)
NM_024105.4(ALG12):c.249C>T (p.Tyr83=)
NM_024105.4(ALG12):c.270G>A (p.Met90Ile)
NM_024105.4(ALG12):c.273C>T (p.Ser91=)
NM_024105.4(ALG12):c.282C>T (p.Tyr94=)
NM_024105.4(ALG12):c.28C>T (p.Arg10Trp) rs148343441
NM_024105.4(ALG12):c.294A>G (p.Ile98Met)
NM_024105.4(ALG12):c.295+19A>G
NM_024105.4(ALG12):c.295+6G>A rs368352058
NM_024105.4(ALG12):c.295+6G>C
NM_024105.4(ALG12):c.296-18G>A
NM_024105.4(ALG12):c.306G>C (p.Val102=)
NM_024105.4(ALG12):c.30G>A (p.Arg10=) rs770005800
NM_024105.4(ALG12):c.30del (p.Leu12fs)
NM_024105.4(ALG12):c.318C>T (p.Gly106=)
NM_024105.4(ALG12):c.330A>G (p.Gly110=)
NM_024105.4(ALG12):c.333C>G (p.Leu111=)
NM_024105.4(ALG12):c.336G>A (p.Trp112Ter)
NM_024105.4(ALG12):c.338C>T (p.Thr113Met)
NM_024105.4(ALG12):c.360G>T (p.Arg120=)
NM_024105.4(ALG12):c.363C>T (p.His121=)
NM_024105.4(ALG12):c.374T>C (p.Met125Thr)
NM_024105.4(ALG12):c.376G>A (p.Val126Met)
NM_024105.4(ALG12):c.378G>A (p.Val126=)
NM_024105.4(ALG12):c.384C>T (p.Thr128=)
NM_024105.4(ALG12):c.387G>A (p.Met129Ile)
NM_024105.4(ALG12):c.390CTG[1] (p.Cys131del)
NM_024105.4(ALG12):c.395G>T (p.Trp132Leu)
NM_024105.4(ALG12):c.406A>G (p.Met136Val)
NM_024105.4(ALG12):c.40C>T (p.Leu14=)
NM_024105.4(ALG12):c.411G>A (p.Gln137=)
NM_024105.4(ALG12):c.417C>T (p.His139=)
NM_024105.4(ALG12):c.424T>G (p.Phe142Val) rs28942090
NM_024105.4(ALG12):c.424_428delinsCAGTTCCAC (p.Phe142fs)
NM_024105.4(ALG12):c.428A>C (p.Tyr143Ser)
NM_024105.4(ALG12):c.438G>A (p.Arg146=)
NM_024105.4(ALG12):c.439_469+19del
NM_024105.4(ALG12):c.441A>G (p.Thr147=)
NM_024105.4(ALG12):c.450T>C (p.Asn150=)
NM_024105.4(ALG12):c.45G>T (p.Gly15=)
NM_024105.4(ALG12):c.462G>A (p.Leu154=)
NM_024105.4(ALG12):c.462G>C (p.Leu154=)
NM_024105.4(ALG12):c.462G>T (p.Leu154=)
NM_024105.4(ALG12):c.468A>G (p.Val156=) rs1221631800
NM_024105.4(ALG12):c.469+15G>T
NM_024105.4(ALG12):c.469G>C (p.Val157Leu)
NM_024105.4(ALG12):c.470-12A>G rs191669043
NM_024105.4(ALG12):c.470-12A>T rs191669043
NM_024105.4(ALG12):c.470-14G>A
NM_024105.4(ALG12):c.470-5T>C
NM_024105.4(ALG12):c.470-6T>C
NM_024105.4(ALG12):c.470-8T>C rs1326072016
NM_024105.4(ALG12):c.471C>A (p.Val157=)
NM_024105.4(ALG12):c.472C>G (p.Leu158Val)
NM_024105.4(ALG12):c.473T>C (p.Leu158Pro) rs121907934
NM_024105.4(ALG12):c.474G>C (p.Leu158=)
NM_024105.4(ALG12):c.480C>T (p.Ala160=)
NM_024105.4(ALG12):c.483C>T (p.Leu161=)
NM_024105.4(ALG12):c.484G>A (p.Ala162Thr)
NM_024105.4(ALG12):c.486G>C (p.Ala162=)
NM_024105.4(ALG12):c.48G>A (p.Leu16=) rs143508665
NM_024105.4(ALG12):c.493C>T (p.Leu165=) rs778040010
NM_024105.4(ALG12):c.49C>T (p.Leu17=) rs2146614917
NM_024105.4(ALG12):c.502G>T (p.Glu168Ter) rs754565538
NM_024105.4(ALG12):c.522G>A (p.Trp174Ter) rs2146607840
NM_024105.4(ALG12):c.529G>A (p.Ala177Thr) rs1186957751
NM_024105.4(ALG12):c.533T>C (p.Phe178Ser)
NM_024105.4(ALG12):c.543C>T (p.Ile181=)
NM_024105.4(ALG12):c.551G>C (p.Arg184Thr) rs1358548843
NM_024105.4(ALG12):c.559C>A (p.Leu187Met)
NM_024105.4(ALG12):c.561G>A (p.Leu187=) rs1601823586
NM_024105.4(ALG12):c.571C>T (p.Leu191=)
NM_024105.4(ALG12):c.580C>T (p.Leu194=) rs2146607719
NM_024105.4(ALG12):c.595T>C (p.Leu199=)
NM_024105.4(ALG12):c.610G>A (p.Val204Ile) rs779494077
NM_024105.4(ALG12):c.612T>G (p.Val204=)
NM_024105.4(ALG12):c.616G>A (p.Val206Ile) rs534212642
NM_024105.4(ALG12):c.619G>T (p.Val207Phe)
NM_024105.4(ALG12):c.626C>G (p.Ala209Gly)
NM_024105.4(ALG12):c.630T>G (p.Leu210=)
NM_024105.4(ALG12):c.633C>T (p.Arg211=)
NM_024105.4(ALG12):c.636C>T (p.His212=)
NM_024105.4(ALG12):c.642C>G (p.Val214=)
NM_024105.4(ALG12):c.656T>G (p.Leu219Arg)
NM_024105.4(ALG12):c.657C>G (p.Leu219=) rs2146607505
NM_024105.4(ALG12):c.664+11C>T
NM_024105.4(ALG12):c.664+14T>C
NM_024105.4(ALG12):c.664+16_664+17del
NM_024105.4(ALG12):c.664+1G>A
NM_024105.4(ALG12):c.665-11T>C
NM_024105.4(ALG12):c.665-17_665-16del rs1473790663
NM_024105.4(ALG12):c.665-20A>T
NM_024105.4(ALG12):c.66T>C (p.Thr22=) rs1449442041
NM_024105.4(ALG12):c.688dup (p.Tyr230fs) rs1569175744
NM_024105.4(ALG12):c.698_699del (p.Arg233fs)
NM_024105.4(ALG12):c.718G>C (p.Gly240Arg) rs2146606588
NM_024105.4(ALG12):c.719G>A (p.Gly240Glu)
NM_024105.4(ALG12):c.729T>C (p.Leu243=)
NM_024105.4(ALG12):c.72C>T (p.His24=)
NM_024105.4(ALG12):c.731G>A (p.Trp244Ter)
NM_024105.4(ALG12):c.736A>C (p.Asn246His)
NM_024105.4(ALG12):c.740C>T (p.Thr247Ile) rs1183282596
NM_024105.4(ALG12):c.746T>C (p.Leu249Pro) rs2146606524
NM_024105.4(ALG12):c.757T>C (p.Ser253Pro)
NM_024105.4(ALG12):c.762C>A (p.Asn254Lys) rs143204935
NM_024105.4(ALG12):c.764G>T (p.Trp255Leu)
NM_024105.4(ALG12):c.768+14T>C
NM_024105.4(ALG12):c.768+14T>G
NM_024105.4(ALG12):c.768+1dup
NM_024105.4(ALG12):c.768+4_768+5insA rs2146606463
NM_024105.4(ALG12):c.769-10C>G rs910838469
NM_024105.4(ALG12):c.769-11C>G
NM_024105.4(ALG12):c.769-12C>T
NM_024105.4(ALG12):c.769-4G>A
NM_024105.4(ALG12):c.769-5C>T
NM_024105.4(ALG12):c.774C>G (p.Ser258=)
NM_024105.4(ALG12):c.789C>A (p.Tyr263Ter) rs2147585338
NM_024105.4(ALG12):c.789C>T (p.Tyr263=) rs2147585338
NM_024105.4(ALG12):c.800C>T (p.Ala267Val) rs1287436259
NM_024105.4(ALG12):c.802C>G (p.Leu268Val)
NM_024105.4(ALG12):c.802C>T (p.Leu268=) rs1490287472
NM_024105.4(ALG12):c.804G>A (p.Leu268=)
NM_024105.4(ALG12):c.804G>C (p.Leu268=) rs771276914
NM_024105.4(ALG12):c.808C>T (p.Arg270Cys)
NM_024105.4(ALG12):c.810C>T (p.Arg270=)
NM_024105.4(ALG12):c.81C>T (p.Ile27=) rs2146614807
NM_024105.4(ALG12):c.821G>A (p.Cys274Tyr)
NM_024105.4(ALG12):c.831C>G (p.Leu277=) rs753341759
NM_024105.4(ALG12):c.838C>T (p.Pro280Ser)
NM_024105.4(ALG12):c.839C>T (p.Pro280Leu)
NM_024105.4(ALG12):c.840C>T (p.Pro280=)
NM_024105.4(ALG12):c.841C>A (p.Leu281Met) rs775415771
NM_024105.4(ALG12):c.845G>A (p.Gly282Asp) rs2147585166
NM_024105.4(ALG12):c.846C>T (p.Gly282=)
NM_024105.4(ALG12):c.85C>T (p.Pro29Ser)
NM_024105.4(ALG12):c.864G>T (p.Thr288=)
NM_024105.4(ALG12):c.866A>G (p.His289Arg)
NM_024105.4(ALG12):c.868G>A (p.Ala290Thr) rs2060551878
NM_024105.4(ALG12):c.870G>A (p.Ala290=)
NM_024105.4(ALG12):c.873G>T (p.Pro291=) rs200080075
NM_024105.4(ALG12):c.875C>T (p.Thr292Met)
NM_024105.4(ALG12):c.898G>A (p.Ala300Thr)
NM_024105.4(ALG12):c.902T>C (p.Leu301Pro) rs1265937339
NM_024105.4(ALG12):c.903C>G (p.Leu301=)
NM_024105.4(ALG12):c.91A>G (p.Thr31Ala)
NM_024105.4(ALG12):c.925G>A (p.Glu309Lys) rs2147584963
NM_024105.4(ALG12):c.930_931del (p.Arg311fs) rs1569174722
NM_024105.4(ALG12):c.942C>T (p.Ile314=)
NM_024105.4(ALG12):c.948C>G (p.Ala316=)
NM_024105.4(ALG12):c.953C>T (p.Pro318Leu) rs2147584901
NM_024105.4(ALG12):c.965T>A (p.Ile322Asn)
NM_024105.4(ALG12):c.96A>G (p.Lys32=) rs2146614770
NM_024105.4(ALG12):c.981C>T (p.Gly327=)
NM_024105.4(ALG12):c.986C>T (p.Ser329Phe)
NM_024105.4(ALG12):c.992+10C>T
NM_024105.4(ALG12):c.993-8T>G
NM_024105.4(ALG12):c.995T>C (p.Leu332Pro)
NM_024592.4:c.(221+1_222-1)_(697+1_698-1)dup
NM_024592.5(SRD5A3):c.*1504A>G rs188625522
NM_024592.5(SRD5A3):c.*2022A>C rs1219052341
NM_024592.5(SRD5A3):c.*2090G>A rs547199503
NM_024592.5(SRD5A3):c.*2193G>T rs886059479
NM_024592.5(SRD5A3):c.*2256C>T rs886059481
NM_024592.5(SRD5A3):c.*2437G>A rs147183515
NM_024592.5(SRD5A3):c.*2437G>C rs147183515
NM_024592.5(SRD5A3):c.*2950T>G rs1363381757
NM_024592.5(SRD5A3):c.*622C>T rs951741748
NM_024592.5(SRD5A3):c.*968C>T rs78470512
NM_024592.5(SRD5A3):c.100C>G (p.Leu34Val) rs769919131
NM_024592.5(SRD5A3):c.114C>T (p.Gly38=)
NM_024592.5(SRD5A3):c.126C>G (p.Gly42=) rs776362756
NM_024592.5(SRD5A3):c.144C>T (p.Asp48=)
NM_024592.5(SRD5A3):c.171T>C (p.Cys57=)
NM_024592.5(SRD5A3):c.182C>G (p.Ser61Trp)
NM_024592.5(SRD5A3):c.203C>A (p.Ala68Asp)
NM_024592.5(SRD5A3):c.221+13C>T
NM_024592.5(SRD5A3):c.221+7G>A
NM_024592.5(SRD5A3):c.222-19G>C
NM_024592.5(SRD5A3):c.222-20C>T
NM_024592.5(SRD5A3):c.22G>A (p.Glu8Lys) rs539407364
NM_024592.5(SRD5A3):c.243C>T (p.Ile81=)
NM_024592.5(SRD5A3):c.279C>A (p.Cys93Ter) rs1482361634
NM_024592.5(SRD5A3):c.286_288delinsTGAGTAAGGC (p.Gln96Ter) rs587776521
NM_024592.5(SRD5A3):c.29C>A (p.Ser10Ter) rs267607094
NM_024592.5(SRD5A3):c.307C>T (p.Pro103Ser)
NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter) rs267607093
NM_024592.5(SRD5A3):c.334C>T (p.Leu112Phe) rs1578206800
NM_024592.5(SRD5A3):c.344T>G (p.Leu115Arg)
NM_024592.5(SRD5A3):c.345C>T (p.Leu115=)
NM_024592.5(SRD5A3):c.351G>A (p.Ala117=)
NM_024592.5(SRD5A3):c.364+18T>A
NM_024592.5(SRD5A3):c.390C>G (p.Phe130Leu)
NM_024592.5(SRD5A3):c.416A>G (p.His139Arg) rs1719786702
NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter) rs267607095
NM_024592.5(SRD5A3):c.433T>C (p.Phe145Leu) rs1719787731
NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter) rs1578209906
NM_024592.5(SRD5A3):c.489C>A (p.Tyr163Ter) rs267607092
NM_024592.5(SRD5A3):c.506A>G (p.Tyr169Cys)
NM_024592.5(SRD5A3):c.50_60del (p.Ala17fs)
NM_024592.5(SRD5A3):c.563-16A>C
NM_024592.5(SRD5A3):c.56G>T (p.Trp19Leu)
NM_024592.5(SRD5A3):c.586T>C (p.Leu196=)
NM_024592.5(SRD5A3):c.598C>T (p.Arg200Trp)
NM_024592.5(SRD5A3):c.613C>T (p.Leu205Phe) rs1719953488
NM_024592.5(SRD5A3):c.627G>A (p.Met209Ile)
NM_024592.5(SRD5A3):c.63G>A (p.Thr21=)
NM_024592.5(SRD5A3):c.697+13T>C
NM_024592.5(SRD5A3):c.697+1G>C rs1719958144
NM_024592.5(SRD5A3):c.751G>C (p.Val251Leu)
NM_024592.5(SRD5A3):c.77T>G (p.Phe26Cys) rs1204016593
NM_024592.5(SRD5A3):c.789C>T (p.Tyr263=)
NM_024592.5(SRD5A3):c.83T>G (p.Leu28Arg)
NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala) rs1720062980
NM_024592.5(SRD5A3):c.918C>T (p.Tyr306=)
NM_024592.5(SRD5A3):c.920C>T (p.Pro307Leu) rs769885824
NM_024592.5(SRD5A3):c.927T>C (p.His309=)
NM_024592.5(SRD5A3):c.934G>C (p.Ala312Pro) rs1720064413
NM_024592.5(SRD5A3):c.942A>G (p.Leu314=) rs1488770806
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_024740.2(ALG9):c.*1297A>G rs577487864
NM_024740.2(ALG9):c.*1766A>G rs886047676
NM_024740.2(ALG9):c.*243G>A rs886047684
NM_024740.2(ALG9):c.*2443T>A rs146821834
NM_024740.2(ALG9):c.*2592T>C rs886047661
NM_024740.2(ALG9):c.*2597G>C rs1591752692
NM_024740.2(ALG9):c.*2648G>A rs1946165207
NM_024740.2(ALG9):c.*3798A>G rs1946041440
NM_024740.2(ALG9):c.*532C>T rs886047681
NM_024740.2(ALG9):c.1015C>T (p.His339Tyr)
NM_024740.2(ALG9):c.1018+19G>A
NM_024740.2(ALG9):c.1060A>T (p.Met354Leu)
NM_024740.2(ALG9):c.1077A>G (p.Ile359Met)
NM_024740.2(ALG9):c.1091A>G (p.Gln364Arg) rs1956094478
NM_024740.2(ALG9):c.114C>G (p.Gly38=)
NM_024740.2(ALG9):c.1173+18G>A
NM_024740.2(ALG9):c.1173+2T>A rs786205134
NM_024740.2(ALG9):c.1174-19T>G
NM_024740.2(ALG9):c.1174-5A>T
NM_024740.2(ALG9):c.1177A>C (p.Ser393Arg)
NM_024740.2(ALG9):c.1197A>G (p.Lys399=)
NM_024740.2(ALG9):c.11G>A (p.Arg4Gln)
NM_024740.2(ALG9):c.1212G>T (p.Val404=)
NM_024740.2(ALG9):c.1226G>T (p.Arg409Leu) rs929508101
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro) rs781880611
NM_024740.2(ALG9):c.1296dup (p.Phe433fs)
NM_024740.2(ALG9):c.131+10C>T
NM_024740.2(ALG9):c.131+1G>C
NM_024740.2(ALG9):c.131+5G>A rs567032424
NM_024740.2(ALG9):c.131+5G>T rs567032424
NM_024740.2(ALG9):c.131+7G>C
NM_024740.2(ALG9):c.1317G>C (p.Leu439=)
NM_024740.2(ALG9):c.132-13_132-12insTTG
NM_024740.2(ALG9):c.132-13del
NM_024740.2(ALG9):c.132-19T>G
NM_024740.2(ALG9):c.132-20T>G
NM_024740.2(ALG9):c.1320C>T (p.Phe440=)
NM_024740.2(ALG9):c.1324+10C>T
NM_024740.2(ALG9):c.1324+6T>G
NM_024740.2(ALG9):c.1325-17A>G
NM_024740.2(ALG9):c.1350T>C (p.Tyr450=)
NM_024740.2(ALG9):c.1352C>G (p.Pro451Arg)
NM_024740.2(ALG9):c.1364G>T (p.Arg455Leu)
NM_024740.2(ALG9):c.1377C>T (p.Asp459=) rs2136830008
NM_024740.2(ALG9):c.1382C>T (p.Thr461Ile)
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys) rs782023699
NM_024740.2(ALG9):c.1406G>A (p.Arg469Lys)
NM_024740.2(ALG9):c.141G>A (p.Gly47=)
NM_024740.2(ALG9):c.1431A>G (p.Lys477=)
NM_024740.2(ALG9):c.1460T>C (p.Leu487Pro) rs2136827755
NM_024740.2(ALG9):c.1469A>T (p.Asp490Val)
NM_024740.2(ALG9):c.1500G>A (p.Glu500=)
NM_024740.2(ALG9):c.1550G>A (p.Arg517Gln)
NM_024740.2(ALG9):c.1567A>G (p.Met523Val)
NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys) rs121908022
NM_024740.2(ALG9):c.1598G>C (p.Arg533Thr)
NM_024740.2(ALG9):c.1604T>C (p.Ile535Thr)
NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser) rs12575909
NM_024740.2(ALG9):c.1644C>G (p.Thr548=)
NM_024740.2(ALG9):c.1645A>G (p.Met549Val)
NM_024740.2(ALG9):c.1682A>G (p.Asn561Ser)
NM_024740.2(ALG9):c.1733+19A>G
NM_024740.2(ALG9):c.1733+9C>T
NM_024740.2(ALG9):c.1734-15T>C
NM_024740.2(ALG9):c.1734-16dup
NM_024740.2(ALG9):c.1734-17del
NM_024740.2(ALG9):c.1753G>A (p.Ala585Thr)
NM_024740.2(ALG9):c.1760A>G (p.Tyr587Cys)
NM_024740.2(ALG9):c.1765C>G (p.Pro589Ala)
NM_024740.2(ALG9):c.1768T>C (p.Phe590Leu)
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter) rs1555064204
NM_024740.2(ALG9):c.1820G>A (p.Arg607Gln)
NM_024740.2(ALG9):c.222C>T (p.Leu74=)
NM_024740.2(ALG9):c.270+17G>C
NM_024740.2(ALG9):c.271-10G>A
NM_024740.2(ALG9):c.279C>T (p.Tyr93=)
NM_024740.2(ALG9):c.27C>T (p.Arg9=)
NM_024740.2(ALG9):c.294A>G (p.Glu98=)
NM_024740.2(ALG9):c.360T>C (p.His120=)
NM_024740.2(ALG9):c.405+9A>T
NM_024740.2(ALG9):c.414G>A (p.Val138=)
NM_024740.2(ALG9):c.482T>C (p.Val161Ala)
NM_024740.2(ALG9):c.546C>A (p.Gly182=)
NM_024740.2(ALG9):c.596C>G (p.Thr199Ser)
NM_024740.2(ALG9):c.59C>A (p.Thr20Lys) rs1555158969
NM_024740.2(ALG9):c.691G>A (p.Ala231Thr)
NM_024740.2(ALG9):c.701+1G>A rs2137107185
NM_024740.2(ALG9):c.702-9_702-8del
NM_024740.2(ALG9):c.739A>G (p.Arg247Gly)
NM_024740.2(ALG9):c.744G>A (p.Trp248Ter)
NM_024740.2(ALG9):c.754_757del (p.Phe252fs)
NM_024740.2(ALG9):c.790-20T>C
NM_024740.2(ALG9):c.793C>T (p.Pro265Ser)
NM_024740.2(ALG9):c.846C>T (p.Leu282=)
NM_024740.2(ALG9):c.880G>A (p.Gly294Arg)
NM_024740.2(ALG9):c.888T>G (p.Asp296Glu)
NM_024740.2(ALG9):c.896-2A>G
NM_024740.2(ALG9):c.910T>C (p.Tyr304His)
NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys)
NM_024740.2(ALG9):c.966C>T (p.Leu322=)
NM_024740.2(ALG9):c.98G>A (p.Ser33Asn) rs1964247669
NM_024740.2(ALG9):c.992del (p.Met331fs) rs2136936118
NM_033087.4(ALG2):c.1005G>A (p.Met335Ile)
NM_033087.4(ALG2):c.1014G>C (p.Gln338His)
NM_033087.4(ALG2):c.1014G>T (p.Gln338His) rs2118998218
NM_033087.4(ALG2):c.1025T>C (p.Ile342Thr) rs2118998170
NM_033087.4(ALG2):c.1030G>C (p.Val344Leu) rs1588618702
NM_033087.4(ALG2):c.1040del (p.Gly347fs) rs387906281
NM_033087.4(ALG2):c.1047C>T (p.Pro349=) rs1588618685
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs) rs1554707637
NM_033087.4(ALG2):c.1056C>G (p.Ser352=)
NM_033087.4(ALG2):c.1062C>T (p.Asp354=)
NM_033087.4(ALG2):c.1064A>G (p.His355Arg) rs1246812091
NM_033087.4(ALG2):c.1068T>C (p.Ser356=)
NM_033087.4(ALG2):c.108G>A (p.Ala36=)
NM_033087.4(ALG2):c.1107C>T (p.Phe369=)
NM_033087.4(ALG2):c.1110A>C (p.Ser370=) rs369062018
NM_033087.4(ALG2):c.1110A>G (p.Ser370=)
NM_033087.4(ALG2):c.1133G>A (p.Arg378His)
NM_033087.4(ALG2):c.1140_1141inv (p.Ser381Thr)
NM_033087.4(ALG2):c.1150G>A (p.Ala384Thr) rs1828724423
NM_033087.4(ALG2):c.1153A>G (p.Thr385Ala) rs1340353164
NM_033087.4(ALG2):c.1156_1162del (p.Met386fs) rs2118997596
NM_033087.4(ALG2):c.1180G>C (p.Val394Leu)
NM_033087.4(ALG2):c.1185G>A (p.Lys395=)
NM_033087.4(ALG2):c.118C>T (p.Leu40=)
NM_033087.4(ALG2):c.1191A>G (p.Lys397=) rs2118997478
NM_033087.4(ALG2):c.1193T>C (p.Phe398Ser)
NM_033087.4(ALG2):c.1230T>A (p.Tyr410Ter) rs372356780
NM_033087.4(ALG2):c.1235C>A (p.Thr412Asn)
NM_033087.4(ALG2):c.1248A>G (p.Val416=) rs1828721761
NM_033087.4(ALG2):c.132del (p.Cys45fs)
NM_033087.4(ALG2):c.135T>C (p.Cys45=)
NM_033087.4(ALG2):c.144G>A (p.Lys48=)
NM_033087.4(ALG2):c.145A>G (p.Ile49Val) rs759980920
NM_033087.4(ALG2):c.147C>G (p.Ile49Met)
NM_033087.4(ALG2):c.147C>T (p.Ile49=)
NM_033087.4(ALG2):c.162C>A (p.Tyr54Ter) rs748281785
NM_033087.4(ALG2):c.16G>C (p.Gly6Arg) rs773062290
NM_033087.4(ALG2):c.179T>A (p.Phe60Tyr)
NM_033087.4(ALG2):c.179T>G (p.Phe60Cys) rs753517894
NM_033087.4(ALG2):c.17G>T (p.Gly6Val) rs180849348
NM_033087.4(ALG2):c.180C>A (p.Phe60Leu) rs777441526
NM_033087.4(ALG2):c.182C>T (p.Ala61Val) rs1588620643
NM_033087.4(ALG2):c.18C>T (p.Gly6=)
NM_033087.4(ALG2):c.195G>A (p.Glu65=)
NM_033087.4(ALG2):c.196C>T (p.Leu66=) rs763273127
NM_033087.4(ALG2):c.203T>G (p.Val68Gly) rs730882051
NM_033087.4(ALG2):c.212C>G (p.Ala71Gly) rs551744220
NM_033087.4(ALG2):c.212C>T (p.Ala71Val) rs551744220
NM_033087.4(ALG2):c.213C>A (p.Ala71=)
NM_033087.4(ALG2):c.213C>G (p.Ala71=) rs768862419
NM_033087.4(ALG2):c.213C>T (p.Ala71=) rs768862419
NM_033087.4(ALG2):c.214G>A (p.Gly72Arg) rs745813432
NM_033087.4(ALG2):c.214_224delinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg) rs730882123
NM_033087.4(ALG2):c.215G>T (p.Gly72Val) rs770738799
NM_033087.4(ALG2):c.215_225del (p.Gly72fs) rs1828806340
NM_033087.4(ALG2):c.216G>C (p.Gly72=)
NM_033087.4(ALG2):c.216delinsTCCCC (p.Asp73fs)
NM_033087.4(ALG2):c.217G>T (p.Asp73Tyr) rs375634924
NM_033087.4(ALG2):c.218_225del (p.Asp73fs) rs1828806280
NM_033087.4(ALG2):c.228G>C (p.Pro76=)
NM_033087.4(ALG2):c.235C>G (p.Leu79Val)
NM_033087.4(ALG2):c.236T>C (p.Leu79Pro) rs1564222174
NM_033087.4(ALG2):c.243_251dup (p.Gly85_Ala86insGlyArgGly)
NM_033087.4(ALG2):c.246C>T (p.Gly82=)
NM_033087.4(ALG2):c.251GCG[3] (p.Gly85dup) rs1050763044
NM_033087.4(ALG2):c.257CCG[3] (p.Ala87dup) rs759891618
NM_033087.4(ALG2):c.258C>T (p.Ala86=) rs1057521308
NM_033087.4(ALG2):c.264C>G (p.Val88=) rs1015050313
NM_033087.4(ALG2):c.264C>T (p.Val88=)
NM_033087.4(ALG2):c.282G>A (p.Met94Ile)
NM_033087.4(ALG2):c.283G>A (p.Val95Ile)
NM_033087.4(ALG2):c.28G>A (p.Asp10Asn) rs769169852
NM_033087.4(ALG2):c.292G>A (p.Ala98Thr)
NM_033087.4(ALG2):c.297C>G (p.Leu99=)
NM_033087.4(ALG2):c.306G>C (p.Leu102=)
NM_033087.4(ALG2):c.308del (p.Phe103fs)
NM_033087.4(ALG2):c.309C>T (p.Phe103=)
NM_033087.4(ALG2):c.314C>G (p.Ala105Gly) rs747781559
NM_033087.4(ALG2):c.315C>T (p.Ala105=) rs1588620487
NM_033087.4(ALG2):c.316G>A (p.Asp106Asn)
NM_033087.4(ALG2):c.324G>A (p.Glu108=)
NM_033087.4(ALG2):c.327C>T (p.Phe109=)
NM_033087.4(ALG2):c.328G>C (p.Asp110His)
NM_033087.4(ALG2):c.32C>T (p.Ser11Leu) rs2119008980
NM_033087.4(ALG2):c.337G>A (p.Val113Met)
NM_033087.4(ALG2):c.339G>A (p.Val113=) rs1554708016
NM_033087.4(ALG2):c.347A>G (p.Gln116Arg) rs2119007195
NM_033087.4(ALG2):c.348+10C>A
NM_033087.4(ALG2):c.348+10C>T
NM_033087.4(ALG2):c.348+14G>A rs2119007123
NM_033087.4(ALG2):c.348+18C>T
NM_033087.4(ALG2):c.348+20G>A
NM_033087.4(ALG2):c.348+7C>T
NM_033087.4(ALG2):c.348+8G>C rs1230090169
NM_033087.4(ALG2):c.34G>C (p.Val12Leu)
NM_033087.4(ALG2):c.351G>T (p.Val117=)
NM_033087.4(ALG2):c.359G>A (p.Cys120Tyr)
NM_033087.4(ALG2):c.367G>A (p.Val123Met) rs1828745406
NM_033087.4(ALG2):c.382A>G (p.Arg128Gly)
NM_033087.4(ALG2):c.385CGG[1] (p.Arg130del)
NM_033087.4(ALG2):c.393G>T (p.Lys131Asn) rs730880304
NM_033087.4(ALG2):c.3G>A (p.Met1Ile)
NM_033087.4(ALG2):c.42G>A (p.Lys14=)
NM_033087.4(ALG2):c.442_443del (p.Asp148fs) rs1828743411
NM_033087.4(ALG2):c.446C>A (p.Ser149Tyr) rs1350412580
NM_033087.4(ALG2):c.44C>A (p.Pro15Gln) rs757920586
NM_033087.4(ALG2):c.452T>C (p.Leu151Pro)
NM_033087.4(ALG2):c.453T>A (p.Leu151=)
NM_033087.4(ALG2):c.489G>T (p.Glu163Asp) rs1486842886
NM_033087.4(ALG2):c.496A>G (p.Thr166Ala) rs1588619067
NM_033087.4(ALG2):c.507G>A (p.Met169Ile) rs779723777
NM_033087.4(ALG2):c.516C>A (p.Cys172Ter) rs1828741342
NM_033087.4(ALG2):c.519C>G (p.Ile173Met) rs1372608210
NM_033087.4(ALG2):c.550T>C (p.Phe184Leu)
NM_033087.4(ALG2):c.560C>T (p.Thr187Ile)
NM_033087.4(ALG2):c.578A>G (p.His193Arg) rs749336918
NM_033087.4(ALG2):c.57C>T (p.Phe19=)
NM_033087.4(ALG2):c.590A>G (p.Asp197Gly)
NM_033087.4(ALG2):c.599A>C (p.Tyr200Ser) rs201271253
NM_033087.4(ALG2):c.5C>T (p.Ala2Val)
NM_033087.4(ALG2):c.627C>T (p.Asp209=) rs1187766399
NM_033087.4(ALG2):c.638dup (p.Pro213_Glu214insTer) rs745635377
NM_033087.4(ALG2):c.660C>A (p.Val220=)
NM_033087.4(ALG2):c.666G>A (p.Lys222=)
NM_033087.4(ALG2):c.675A>G (p.Lys225=)
NM_033087.4(ALG2):c.676T>A (p.Phe226Ile) rs1828737709
NM_033087.4(ALG2):c.678C>G (p.Phe226Leu) rs866855594
NM_033087.4(ALG2):c.679C>A (p.Leu227Met) rs1308983324
NM_033087.4(ALG2):c.679C>G (p.Leu227Val) rs1308983324
NM_033087.4(ALG2):c.686T>A (p.Leu229His) rs1828737491
NM_033087.4(ALG2):c.691A>G (p.Ile231Val)
NM_033087.4(ALG2):c.69C>T (p.Asp23=) rs764985375
NM_033087.4(ALG2):c.717T>C (p.Asn239=) rs1588618893
NM_033087.4(ALG2):c.729A>C (p.Ala243=)
NM_033087.4(ALG2):c.729A>T (p.Ala243=) rs748947069
NM_033087.4(ALG2):c.733G>A (p.Glu245Lys) rs777262456
NM_033087.4(ALG2):c.746A>G (p.Gln249Arg)
NM_033087.4(ALG2):c.750_751delinsTT (p.Arg251Cys)
NM_033087.4(ALG2):c.752G>T (p.Arg251Leu) rs201729325
NM_033087.4(ALG2):c.75C>G (p.Gly25=) rs1410757499
NM_033087.4(ALG2):c.760T>C (p.Leu254=) rs62562374
NM_033087.4(ALG2):c.760T>G (p.Leu254Val) rs62562374
NM_033087.4(ALG2):c.795C>A (p.Ile265=) rs183416022
NM_033087.4(ALG2):c.795C>G (p.Ile265Met) rs183416022
NM_033087.4(ALG2):c.814G>A (p.Glu272Lys)
NM_033087.4(ALG2):c.81C>T (p.Gly27=)
NM_033087.4(ALG2):c.839A>G (p.His280Arg) rs2118998777
NM_033087.4(ALG2):c.841T>C (p.Tyr281His)
NM_033087.4(ALG2):c.873C>T (p.Ser291=)
NM_033087.4(ALG2):c.89_114del (p.Glu30fs) rs775204090
NM_033087.4(ALG2):c.918A>G (p.Lys306=)
NM_033087.4(ALG2):c.921_922del (p.Lys308fs)
NM_033087.4(ALG2):c.929C>A (p.Ser310Tyr)
NM_033087.4(ALG2):c.935T>A (p.Leu312His)
NM_033087.4(ALG2):c.945C>T (p.Cys315=) rs1828729293
NM_033087.4(ALG2):c.949T>C (p.Cys317Arg)
NM_033087.4(ALG2):c.957T>C (p.Leu319=)
NM_033087.4(ALG2):c.959A>G (p.Tyr320Cys) rs1828728819
NM_033087.4(ALG2):c.962C>A (p.Thr321Lys) rs2118998416
NM_033087.4(ALG2):c.964C>A (p.Pro322Thr)
NM_033087.4(ALG2):c.96G>A (p.Leu32=)
NM_033087.4(ALG2):c.971A>G (p.Asn324Ser)
NM_033087.4(ALG2):c.974A>G (p.Glu325Gly)
NM_033087.4(ALG2):c.97G>A (p.Val33Met) rs774607653
NM_033087.4(ALG2):c.97G>T (p.Val33Leu)
NM_033087.4(ALG2):c.984C>G (p.Gly328=)
NM_052859.4(RFT1):c.*1117G>C rs1700966613
NM_052859.4(RFT1):c.*116C>G rs1474404507
NM_052859.4(RFT1):c.*1271A>C rs549553484
NM_052859.4(RFT1):c.*153C>T rs886058723
NM_052859.4(RFT1):c.*1693G>A rs146195364
NM_052859.4(RFT1):c.*1693G>T rs146195364
NM_052859.4(RFT1):c.*182G>C rs550906487
NM_052859.4(RFT1):c.*184G>C rs548020075
NM_052859.4(RFT1):c.*2076C>T rs138775144
NM_052859.4(RFT1):c.*2187A>G rs1249353870
NM_052859.4(RFT1):c.*2255A>C rs886058717
NM_052859.4(RFT1):c.*2350C>T rs886058716
NM_052859.4(RFT1):c.*2427G>A rs886058715
NM_052859.4(RFT1):c.*2428G>A rs1036043688
NM_052859.4(RFT1):c.*2787G>C rs886058714
NM_052859.4(RFT1):c.*295C>T rs1050584536
NM_052859.4(RFT1):c.*2992G>A rs1390396374
NM_052859.4(RFT1):c.*2997C>G rs886058712
NM_052859.4(RFT1):c.*3093C>T rs886058710
NM_052859.4(RFT1):c.*3191A>G rs886058709
NM_052859.4(RFT1):c.*405G>T rs886058722
NM_052859.4(RFT1):c.*423G>A rs1476531096
NM_052859.4(RFT1):c.*441C>A rs1700985095
NM_052859.4(RFT1):c.*609C>T rs886058721
NM_052859.4(RFT1):c.*861A>G rs886058720
NM_052859.4(RFT1):c.-16G>T rs766018631
NM_052859.4(RFT1):c.1003C>T (p.Leu335=) rs2107109171
NM_052859.4(RFT1):c.1008C>G (p.Ala336=) rs199734288
NM_052859.4(RFT1):c.1009C>T (p.Leu337=) rs1701393196
NM_052859.4(RFT1):c.1020C>T (p.Gly340=) rs766360090
NM_052859.4(RFT1):c.1032T>A (p.Thr344=)
NM_052859.4(RFT1):c.1052C>G (p.Ser351Cys)
NM_052859.4(RFT1):c.1063C>G (p.Leu355Val)
NM_052859.4(RFT1):c.1071C>G (p.Ile357Met)
NM_052859.4(RFT1):c.1080G>T (p.Gly360=) rs1189812930
NM_052859.4(RFT1):c.1085T>C (p.Met362Thr) rs1701389862
NM_052859.4(RFT1):c.109C>T (p.Arg37Cys) rs764833139
NM_052859.4(RFT1):c.10C>A (p.Gln4Lys) rs773959881
NM_052859.4(RFT1):c.1102+17T>C
NM_052859.4(RFT1):c.1102+1G>T rs1559586345
NM_052859.4(RFT1):c.1102+4C>A rs150695725
NM_052859.4(RFT1):c.1102+4C>T rs150695725
NM_052859.4(RFT1):c.1102+8C>A
NM_052859.4(RFT1):c.1103-14T>C
NM_052859.4(RFT1):c.1103-5T>C rs1338060752
NM_052859.4(RFT1):c.1103-6T>C
NM_052859.4(RFT1):c.1103-8C>A rs1701250241
NM_052859.4(RFT1):c.1124A>G (p.Tyr375Cys) rs1701249101
NM_052859.4(RFT1):c.1135G>A (p.Val379Ile) rs1364345554
NM_052859.4(RFT1):c.1138C>G (p.Leu380Val) rs575508213
NM_052859.4(RFT1):c.1143G>C (p.Leu381=)
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
NM_052859.4(RFT1):c.1156G>C (p.Gly386Arg) rs2107095147
NM_052859.4(RFT1):c.1162A>T (p.Thr388Ser) rs1701247296
NM_052859.4(RFT1):c.1163C>T (p.Thr388Ile)
NM_052859.4(RFT1):c.1167G>A (p.Glu389=)
NM_052859.4(RFT1):c.1175C>T (p.Thr392Ile)
NM_052859.4(RFT1):c.1186A>G (p.Met396Val) rs1701245763
NM_052859.4(RFT1):c.1195G>T (p.Glu399Ter) rs2107094933
NM_052859.4(RFT1):c.1197G>A (p.Glu399=) rs765986260
NM_052859.4(RFT1):c.1198del (p.Glu400fs) rs748350251
NM_052859.4(RFT1):c.1208+11T>C
NM_052859.4(RFT1):c.1208+3G>A
NM_052859.4(RFT1):c.1208+7A>G
NM_052859.4(RFT1):c.1209-18T>C
NM_052859.4(RFT1):c.1222A>G (p.Met408Val) rs796053522
NM_052859.4(RFT1):c.1226T>C (p.Leu409Pro)
NM_052859.4(RFT1):c.1231del (p.Leu411fs) rs771934344
NM_052859.4(RFT1):c.1236CTC[1] (p.Ser414del)
NM_052859.4(RFT1):c.1261C>G (p.Leu421Val)
NM_052859.4(RFT1):c.1271G>A (p.Arg424His)
NM_052859.4(RFT1):c.1289G>A (p.Gly430Asp)
NM_052859.4(RFT1):c.1294A>G (p.Ile432Val)
NM_052859.4(RFT1):c.129C>T (p.Ile43=) rs148510042
NM_052859.4(RFT1):c.1316T>C (p.Met439Thr) rs749046487
NM_052859.4(RFT1):c.131T>C (p.Val44Ala) rs2107173212
NM_052859.4(RFT1):c.1326G>A (p.Arg442=)
NM_052859.4(RFT1):c.1332G>T (p.Thr444=) rs139487607
NM_052859.4(RFT1):c.1341T>G (p.Leu447=) rs2107071678
NM_052859.4(RFT1):c.1348A>G (p.Ile450Val)
NM_052859.4(RFT1):c.1359C>T (p.Tyr453=)
NM_052859.4(RFT1):c.1375C>T (p.His459Tyr)
NM_052859.4(RFT1):c.1381C>A (p.Pro461Thr)
NM_052859.4(RFT1):c.1386G>A (p.Leu462=)
NM_052859.4(RFT1):c.138A>G (p.Val46=) rs1702095360
NM_052859.4(RFT1):c.1398C>T (p.His466=)
NM_052859.4(RFT1):c.1399dup (p.Leu467fs) rs2107071266
NM_052859.4(RFT1):c.1401A>T (p.Leu467=)
NM_052859.4(RFT1):c.1404G>A (p.Ser468=) rs1366809549
NM_052859.4(RFT1):c.1413_1414delinsTT (p.Leu472Phe)
NM_052859.4(RFT1):c.1416C>T (p.Leu472=)
NM_052859.4(RFT1):c.1424T>G (p.Phe475Cys)
NM_052859.4(RFT1):c.1433G>C (p.Ser478Thr)
NM_052859.4(RFT1):c.1446dup (p.Ala483fs)
NM_052859.4(RFT1):c.144T>C (p.Asn48=)
NM_052859.4(RFT1):c.1455G>A (p.Ser485=) rs767866491
NM_052859.4(RFT1):c.1458+15G>C
NM_052859.4(RFT1):c.1458+16C>T
NM_052859.4(RFT1):c.1458+5G>A
NM_052859.4(RFT1):c.1459-14G>A
NM_052859.4(RFT1):c.1459-14G>T rs1295786345
NM_052859.4(RFT1):c.1459-17A>G
NM_052859.4(RFT1):c.1459-2A>G
NM_052859.4(RFT1):c.145G>A (p.Val49Ile)
NM_052859.4(RFT1):c.1476G>A (p.Glu492=) rs1701005503
NM_052859.4(RFT1):c.1479G>A (p.Gln493=) rs780448463
NM_052859.4(RFT1):c.1480G>A (p.Gly494Ser) rs756497073
NM_052859.4(RFT1):c.148A>T (p.Arg50Ter) rs2107173109
NM_052859.4(RFT1):c.149+16C>G rs201161797
NM_052859.4(RFT1):c.150-14C>T
NM_052859.4(RFT1):c.150-17C>T
NM_052859.4(RFT1):c.150-1G>C
NM_052859.4(RFT1):c.1510G>C (p.Val504Leu)
NM_052859.4(RFT1):c.1515G>A (p.Gly505=)
NM_052859.4(RFT1):c.1516G>A (p.Ala506Thr) rs1701003868
NM_052859.4(RFT1):c.1521C>G (p.Phe507Leu)
NM_052859.4(RFT1):c.153A>G (p.Leu51=)
NM_052859.4(RFT1):c.1546G>T (p.Ala516Ser) rs1306859696
NM_052859.4(RFT1):c.154A>C (p.Thr52Pro) rs1702035840
NM_052859.4(RFT1):c.1555A>G (p.Thr519Ala)
NM_052859.4(RFT1):c.155C>A (p.Thr52Lys) rs764531159
NM_052859.4(RFT1):c.1560G>A (p.Glu520=) rs369800703
NM_052859.4(RFT1):c.1560G>C (p.Glu520Asp) rs369800703
NM_052859.4(RFT1):c.156G>T (p.Thr52=)
NM_052859.4(RFT1):c.1570A>T (p.Ile524Phe)
NM_052859.4(RFT1):c.1581C>T (p.Leu527=) rs2107069217
NM_052859.4(RFT1):c.1595G>T (p.Gly532Val) rs1701001018
NM_052859.4(RFT1):c.1597G>T (p.Val533Leu)
NM_052859.4(RFT1):c.1608C>G (p.Arg536=)
NM_052859.4(RFT1):c.1608C>T (p.Arg536=)
NM_052859.4(RFT1):c.173C>A (p.Thr58Asn)
NM_052859.4(RFT1):c.173C>T (p.Thr58Ile)
NM_052859.4(RFT1):c.18G>T (p.Val6=)
NM_052859.4(RFT1):c.208T>C (p.Cys70Arg)
NM_052859.4(RFT1):c.224C>T (p.Thr75Ile) rs1702032211
NM_052859.4(RFT1):c.229C>T (p.Arg77Ter)
NM_052859.4(RFT1):c.230G>A (p.Arg77Gln)
NM_052859.4(RFT1):c.240C>G (p.Ser80Arg) rs2107168045
NM_052859.4(RFT1):c.249C>T (p.Leu83=)
NM_052859.4(RFT1):c.24C>G (p.Gly8=) rs2107183365
NM_052859.4(RFT1):c.253C>T (p.Leu85=)
NM_052859.4(RFT1):c.266+13T>A
NM_052859.4(RFT1):c.266+1G>A rs371764423
NM_052859.4(RFT1):c.266+20G>A
NM_052859.4(RFT1):c.267-13dup
NM_052859.4(RFT1):c.267-16T>A rs2107165275
NM_052859.4(RFT1):c.267-20del
NM_052859.4(RFT1):c.267-4C>G
NM_052859.4(RFT1):c.267-4C>T rs1473728720
NM_052859.4(RFT1):c.267-5T>A
NM_052859.4(RFT1):c.272C>T (p.Pro91Leu)
NM_052859.4(RFT1):c.273C>G (p.Pro91=)
NM_052859.4(RFT1):c.275del (p.Leu92fs)
NM_052859.4(RFT1):c.27C>T (p.His9=)
NM_052859.4(RFT1):c.292T>A (p.Leu98Ile)
NM_052859.4(RFT1):c.30G>A (p.Ala10=)
NM_052859.4(RFT1):c.324T>C (p.Leu108=) rs2107164889
NM_052859.4(RFT1):c.335A>C (p.Asp112Ala)
NM_052859.4(RFT1):c.33C>T (p.Ala11=)
NM_052859.4(RFT1):c.342TGT[1] (p.Val116del) rs779809846
NM_052859.4(RFT1):c.343G>A (p.Val115Ile)
NM_052859.4(RFT1):c.34C>A (p.Arg12=)
NM_052859.4(RFT1):c.34C>G (p.Arg12Gly)
NM_052859.4(RFT1):c.34C>T (p.Arg12Trp)
NM_052859.4(RFT1):c.351T>C (p.Pro117=)
NM_052859.4(RFT1):c.368T>C (p.Val123Ala)
NM_052859.4(RFT1):c.373C>T (p.Leu125=) rs1701996497
NM_052859.4(RFT1):c.374T>C (p.Leu125Pro)
NM_052859.4(RFT1):c.377T>C (p.Phe126Ser) rs1701996247
NM_052859.4(RFT1):c.384C>T (p.Leu128=)
NM_052859.4(RFT1):c.3G>A (p.Met1Ile) rs2107183535
NM_052859.4(RFT1):c.405A>G (p.Leu135=)
NM_052859.4(RFT1):c.421G>T (p.Val141Phe) rs2107164186
NM_052859.4(RFT1):c.451_456dup (p.Leu151_Lys152dup) rs750344787
NM_052859.4(RFT1):c.456+3C>G rs1296088581
NM_052859.4(RFT1):c.456G>C (p.Lys152Asn)
NM_052859.4(RFT1):c.457-19C>G rs2107162471
NM_052859.4(RFT1):c.463G>A (p.Ala155Thr)
NM_052859.4(RFT1):c.465A>C (p.Ala155=) rs886058727
NM_052859.4(RFT1):c.477G>A (p.Ser159=) rs750521781
NM_052859.4(RFT1):c.477G>C (p.Ser159=) rs750521781
NM_052859.4(RFT1):c.490A>G (p.Ser164Gly) rs2107162275
NM_052859.4(RFT1):c.498G>A (p.Leu166=)
NM_052859.4(RFT1):c.49G>A (p.Gly17Ser)
NM_052859.4(RFT1):c.49G>C (p.Gly17Arg)
NM_052859.4(RFT1):c.4G>C (p.Gly2Arg)
NM_052859.4(RFT1):c.501A>G (p.Thr167=)
NM_052859.4(RFT1):c.510C>T (p.Leu170=)
NM_052859.4(RFT1):c.511G>C (p.Val171Leu)
NM_052859.4(RFT1):c.519G>A (p.Trp173Ter) rs759320646
NM_052859.4(RFT1):c.519G>C (p.Trp173Cys)
NM_052859.4(RFT1):c.54C>T (p.Leu18=)
NM_052859.4(RFT1):c.558+10A>G
NM_052859.4(RFT1):c.558G>T (p.Gln186His)
NM_052859.4(RFT1):c.559-13dup rs1277722803
NM_052859.4(RFT1):c.559-14del
NM_052859.4(RFT1):c.559-20C>T rs2107157946
NM_052859.4(RFT1):c.566A>G (p.Tyr189Cys)
NM_052859.4(RFT1):c.56T>C (p.Leu19Pro) rs1575509225
NM_052859.4(RFT1):c.56T>G (p.Leu19Arg)
NM_052859.4(RFT1):c.58C>T (p.Leu20=)
NM_052859.4(RFT1):c.613C>T (p.Leu205=)
NM_052859.4(RFT1):c.614T>G (p.Leu205Arg) rs1357940149
NM_052859.4(RFT1):c.620C>G (p.Ser207Cys)
NM_052859.4(RFT1):c.623C>T (p.Pro208Leu) rs2107157423
NM_052859.4(RFT1):c.63+11C>A
NM_052859.4(RFT1):c.63+12C>T rs755841835
NM_052859.4(RFT1):c.63+19G>T rs2107182991
NM_052859.4(RFT1):c.63+20T>C
NM_052859.4(RFT1):c.63+3A>G
NM_052859.4(RFT1):c.63+4C>G rs2107183082
NM_052859.4(RFT1):c.631A>G (p.Thr211Ala)
NM_052859.4(RFT1):c.634A>G (p.Lys212Glu)
NM_052859.4(RFT1):c.64-16del rs776377276
NM_052859.4(RFT1):c.64-3T>C
NM_052859.4(RFT1):c.642A>G (p.Gln214=)
NM_052859.4(RFT1):c.646C>T (p.Leu216Phe)
NM_052859.4(RFT1):c.649C>T (p.Pro217Ser) rs2107157216
NM_052859.4(RFT1):c.658A>G (p.Arg220Gly)
NM_052859.4(RFT1):c.662del (p.Ile221fs) rs2107157163
NM_052859.4(RFT1):c.66G>A (p.Val22=) rs2107173481
NM_052859.4(RFT1):c.673T>A (p.Leu225Ile)
NM_052859.4(RFT1):c.696+11C>T rs886058725
NM_052859.4(RFT1):c.696+5_696+8del rs759775801
NM_052859.4(RFT1):c.697-11_697-10dup
NM_052859.4(RFT1):c.697-24GTTTT[2]
NM_052859.4(RFT1):c.697-24GTTTT[4] rs763098152
NM_052859.4(RFT1):c.697-7_697-3del rs1354146170
NM_052859.4(RFT1):c.699G>A (p.Ala233=) rs763683975
NM_052859.4(RFT1):c.710G>A (p.Trp237Ter) rs1408405816
NM_052859.4(RFT1):c.730T>A (p.Trp244Arg)
NM_052859.4(RFT1):c.738T>C (p.Phe246=)
NM_052859.4(RFT1):c.740dup (p.Lys248fs) rs1701662808
NM_052859.4(RFT1):c.743_746del (p.Lys248fs) rs773274468
NM_052859.4(RFT1):c.744A>G (p.Lys248=)
NM_052859.4(RFT1):c.749C>T (p.Ser250Phe) rs1575494329
NM_052859.4(RFT1):c.74G>A (p.Arg25Gln)
NM_052859.4(RFT1):c.74G>T (p.Arg25Leu) rs780107020
NM_052859.4(RFT1):c.760C>T (p.Gln254Ter) rs185019792
NM_052859.4(RFT1):c.762G>A (p.Gln254=)
NM_052859.4(RFT1):c.775+20G>A rs961442737
NM_052859.4(RFT1):c.775+20G>C
NM_052859.4(RFT1):c.775+3A>G
NM_052859.4(RFT1):c.775+9A>C
NM_052859.4(RFT1):c.775G>A (p.Gly259Ser) rs1575494302
NM_052859.4(RFT1):c.776-13T>G
NM_052859.4(RFT1):c.776-16G>T
NM_052859.4(RFT1):c.776-5T>C rs2107119402
NM_052859.4(RFT1):c.786T>C (p.Tyr262=)
NM_052859.4(RFT1):c.7A>G (p.Ser3Gly) rs1201237484
NM_052859.4(RFT1):c.826+16G>A
NM_052859.4(RFT1):c.827-3dup
NM_052859.4(RFT1):c.827-6T>G rs753486430
NM_052859.4(RFT1):c.840A>G (p.Ile280Met)
NM_052859.4(RFT1):c.886A>G (p.Ile296Val)
NM_052859.4(RFT1):c.887T>A (p.Ile296Lys) rs772820136
NM_052859.4(RFT1):c.887T>G (p.Ile296Arg) rs772820136
NM_052859.4(RFT1):c.892G>A (p.Glu298Lys) rs796053521
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys) rs913477149
NM_052859.4(RFT1):c.904A>G (p.Ile302Val)
NM_052859.4(RFT1):c.905del (p.Ile302fs) rs2107115317
NM_052859.4(RFT1):c.945A>G (p.Thr315=)
NM_052859.4(RFT1):c.946C>T (p.Leu316Phe) rs2107115119
NM_052859.4(RFT1):c.954G>A (p.Lys318=)
NM_052859.4(RFT1):c.957+1G>A
NM_052859.4(RFT1):c.957G>C (p.Gln319His) rs886058724
NM_052859.4(RFT1):c.958-13_958-9del
NM_052859.4(RFT1):c.958-19C>G
NM_052859.4(RFT1):c.958-7G>C rs997959901
NM_052859.4(RFT1):c.958-9T>G
NM_052859.4(RFT1):c.973G>A (p.Ala325Thr)
NM_052859.4(RFT1):c.979G>A (p.Ala327Thr) rs745493847
NM_052859.4(RFT1):c.988G>C (p.Glu330Gln) rs2107109292
NM_052859.4(RFT1):c.997C>T (p.Leu333Phe)
NM_138459.5(NUS1):c.-118_159del (p.Met1fs)
NM_138459.5(NUS1):c.105G>T (p.Trp35Cys)
NM_138459.5(NUS1):c.108C>G (p.Ile36Met)
NM_138459.5(NUS1):c.110G>A (p.Trp37Ter)
NM_138459.5(NUS1):c.114G>C (p.Arg38=)
NM_138459.5(NUS1):c.117C>G (p.Arg39=)
NM_138459.5(NUS1):c.117C>T (p.Arg39=) rs1333336720
NM_138459.5(NUS1):c.119G>A (p.Cys40Tyr)
NM_138459.5(NUS1):c.119_132dup (p.Ser45fs)
NM_138459.5(NUS1):c.120C>T (p.Cys40=)
NM_138459.5(NUS1):c.123C>G (p.Cys41Trp) rs914678907
NM_138459.5(NUS1):c.124C>T (p.Arg42Cys)
NM_138459.5(NUS1):c.125G>C (p.Arg42Pro)
NM_138459.5(NUS1):c.127G>A (p.Ala43Thr) rs1327892878
NM_138459.5(NUS1):c.130G>A (p.Ala44Thr)
NM_138459.5(NUS1):c.133T>C (p.Ser45Pro)
NM_138459.5(NUS1):c.136G>C (p.Ala46Pro)
NM_138459.5(NUS1):c.138C>G (p.Ala46=)
NM_138459.5(NUS1):c.156C>G (p.Leu52=)
NM_138459.5(NUS1):c.158G>A (p.Gly53Asp)
NM_138459.5(NUS1):c.15C>A (p.Tyr5Ter) rs1449400618
NM_138459.5(NUS1):c.165G>A (p.Thr55=)
NM_138459.5(NUS1):c.169C>T (p.Arg57Cys)
NM_138459.5(NUS1):c.170G>T (p.Arg57Leu)
NM_138459.5(NUS1):c.175C>T (p.Pro59Ser) rs764639190
NM_138459.5(NUS1):c.178C>G (p.Pro60Ala)
NM_138459.5(NUS1):c.178C>T (p.Pro60Ser)
NM_138459.5(NUS1):c.17_40del (p.Glu6_His13del)
NM_138459.5(NUS1):c.180G>A (p.Pro60=) rs1772967652
NM_138459.5(NUS1):c.18G>T (p.Glu6Asp)
NM_138459.5(NUS1):c.195C>T (p.Asn65=)
NM_138459.5(NUS1):c.197G>A (p.Arg66His)
NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys) rs1562172820
NM_138459.5(NUS1):c.199C>T (p.Arg67Cys)
NM_138459.5(NUS1):c.200G>C (p.Arg67Pro)
NM_138459.5(NUS1):c.204C>T (p.His68=)
NM_138459.5(NUS1):c.209G>A (p.Arg70Gln)
NM_138459.5(NUS1):c.214C>A (p.Pro72Thr) rs1460197813
NM_138459.5(NUS1):c.214C>T (p.Pro72Ser)
NM_138459.5(NUS1):c.215C>T (p.Pro72Leu)
NM_138459.5(NUS1):c.216G>A (p.Pro72=)
NM_138459.5(NUS1):c.220G>T (p.Gly74Trp)
NM_138459.5(NUS1):c.221G>A (p.Gly74Glu)
NM_138459.5(NUS1):c.223G>T (p.Gly75Trp)
NM_138459.5(NUS1):c.225G>C (p.Gly75=)
NM_138459.5(NUS1):c.225del (p.Ser76fs)
NM_138459.5(NUS1):c.226T>G (p.Ser76Ala)
NM_138459.5(NUS1):c.22G>T (p.Val8Leu)
NM_138459.5(NUS1):c.231C>T (p.Cys77=)
NM_138459.5(NUS1):c.234_280dup (p.Leu94fs)
NM_138459.5(NUS1):c.236C>T (p.Ala79Val)
NM_138459.5(NUS1):c.240C>A (p.Ala80=)
NM_138459.5(NUS1):c.240C>G (p.Ala80=)
NM_138459.5(NUS1):c.243A>G (p.Ala81=)
NM_138459.5(NUS1):c.249C>T (p.His83=)
NM_138459.5(NUS1):c.24G>T (p.Val8=) rs745434007
NM_138459.5(NUS1):c.250dup (p.Arg84fs)
NM_138459.5(NUS1):c.254T>A (p.Met85Lys)
NM_138459.5(NUS1):c.270C>T (p.Asp90=)
NM_138459.5(NUS1):c.274C>A (p.Arg92Ser)
NM_138459.5(NUS1):c.274C>G (p.Arg92Gly)
NM_138459.5(NUS1):c.276T>C (p.Arg92=)
NM_138459.5(NUS1):c.277T>A (p.Ser93Thr)
NM_138459.5(NUS1):c.277T>G (p.Ser93Ala)
NM_138459.5(NUS1):c.280T>C (p.Leu94=)
NM_138459.5(NUS1):c.28C>T (p.Arg10Trp)
NM_138459.5(NUS1):c.291G>A (p.Leu97=)
NM_138459.5(NUS1):c.299A>C (p.His100Pro)
NM_138459.5(NUS1):c.29_52dup (p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys)
NM_138459.5(NUS1):c.301A>G (p.Met101Val)
NM_138459.5(NUS1):c.302T>C (p.Met101Thr)
NM_138459.5(NUS1):c.304G>A (p.Gly102Ser)
NM_138459.5(NUS1):c.307C>G (p.Leu103Val)
NM_138459.5(NUS1):c.308T>G (p.Leu103Arg)
NM_138459.5(NUS1):c.30G>A (p.Arg10=)
NM_138459.5(NUS1):c.30G>T (p.Arg10=) rs937504375
NM_138459.5(NUS1):c.313A>G (p.Ile105Val)
NM_138459.5(NUS1):c.329A>G (p.Gln110Arg)
NM_138459.5(NUS1):c.336C>T (p.Pro112=)
NM_138459.5(NUS1):c.346G>C (p.Asp116His)
NM_138459.5(NUS1):c.351C>T (p.Ile117=)
NM_138459.5(NUS1):c.352G>T (p.Ala118Ser)
NM_138459.5(NUS1):c.353C>A (p.Ala118Glu) rs2114674826
NM_138459.5(NUS1):c.354G>A (p.Ala118=)
NM_138459.5(NUS1):c.35T>C (p.Leu12Pro)
NM_138459.5(NUS1):c.360C>A (p.Leu120=) rs1772974013
NM_138459.5(NUS1):c.368_372del (p.Trp123fs)
NM_138459.5(NUS1):c.36G>A (p.Leu12=) rs2114674325
NM_138459.5(NUS1):c.370T>A (p.Cys124Ser)
NM_138459.5(NUS1):c.378del (p.Val127fs)
NM_138459.5(NUS1):c.383G>A (p.Gly128Asp)
NM_138459.5(NUS1):c.385A>G (p.Ile129Val)
NM_138459.5(NUS1):c.390C>G (p.Ser130=)
NM_138459.5(NUS1):c.390C>T (p.Ser130=)
NM_138459.5(NUS1):c.393C>T (p.Tyr131=) rs1485120199
NM_138459.5(NUS1):c.39C>T (p.His13=)
NM_138459.5(NUS1):c.3G>A (p.Met1Ile)
NM_138459.5(NUS1):c.413A>G (p.Gln138Arg) rs2114674884
NM_138459.5(NUS1):c.415+2T>G
NM_138459.5(NUS1):c.415G>A (p.Gly139Ser)
NM_138459.5(NUS1):c.416-11C>T
NM_138459.5(NUS1):c.416-23_416-7del rs780531527
NM_138459.5(NUS1):c.416-6T>C rs754507170
NM_138459.5(NUS1):c.416-6T>G rs754507170
NM_138459.5(NUS1):c.416G>A (p.Gly139Asp) rs2114686687
NM_138459.5(NUS1):c.417T>C (p.Gly139=)
NM_138459.5(NUS1):c.418A>G (p.Ile140Val)
NM_138459.5(NUS1):c.420T>G (p.Ile140Met) rs1263100166
NM_138459.5(NUS1):c.422T>G (p.Phe141Cys)
NM_138459.5(NUS1):c.437C>A (p.Ser146Tyr)
NM_138459.5(NUS1):c.446T>C (p.Met149Thr)
NM_138459.5(NUS1):c.459A>G (p.Leu153=) rs2114686717
NM_138459.5(NUS1):c.45G>C (p.Leu15=)
NM_138459.5(NUS1):c.45G>T (p.Leu15=)
NM_138459.5(NUS1):c.475C>T (p.Leu159Phe)
NM_138459.5(NUS1):c.480G>A (p.Leu160=) rs2114686734
NM_138459.5(NUS1):c.482del (p.Gly161fs)
NM_138459.5(NUS1):c.498A>T (p.Lys166Asn) rs1392457084
NM_138459.5(NUS1):c.49T>C (p.Cys17Arg)
NM_138459.5(NUS1):c.500A>G (p.Tyr167Cys)
NM_138459.5(NUS1):c.502T>C (p.Ser168Pro)
NM_138459.5(NUS1):c.502T>G (p.Ser168Ala)
NM_138459.5(NUS1):c.508G>A (p.Glu170Lys)
NM_138459.5(NUS1):c.519T>C (p.Asn173=)
NM_138459.5(NUS1):c.521G>A (p.Ser174Asn)
NM_138459.5(NUS1):c.523A>G (p.Asn175Asp) rs28362518
NM_138459.5(NUS1):c.523A>T (p.Asn175Tyr) rs28362518
NM_138459.5(NUS1):c.524A>G (p.Asn175Ser) rs1438675724
NM_138459.5(NUS1):c.52C>G (p.Leu18Val) rs1772962465
NM_138459.5(NUS1):c.540A>G (p.Gln180=)
NM_138459.5(NUS1):c.541+10A>C rs1051471000
NM_138459.5(NUS1):c.541+5G>T
NM_138459.5(NUS1):c.541+8T>C rs1250234517
NM_138459.5(NUS1):c.542-14_542-11del rs777604444
NM_138459.5(NUS1):c.542-1G>T
NM_138459.5(NUS1):c.542-20T>C
NM_138459.5(NUS1):c.542-9T>A
NM_138459.5(NUS1):c.542-9T>C
NM_138459.5(NUS1):c.548A>G (p.Asn183Ser) rs2114687377
NM_138459.5(NUS1):c.554A>T (p.His185Leu)
NM_138459.5(NUS1):c.561A>T (p.Ala187=) rs767054326
NM_138459.5(NUS1):c.565A>T (p.Lys189Ter)
NM_138459.5(NUS1):c.567G>A (p.Lys189=)
NM_138459.5(NUS1):c.56A>T (p.His19Leu)
NM_138459.5(NUS1):c.573G>A (p.Leu191=) rs1052232
NM_138459.5(NUS1):c.573G>T (p.Leu191=)
NM_138459.5(NUS1):c.577C>G (p.Pro193Ala)
NM_138459.5(NUS1):c.57C>G (p.His19Gln)
NM_138459.5(NUS1):c.57C>T (p.His19=)
NM_138459.5(NUS1):c.580G>A (p.Glu194Lys)
NM_138459.5(NUS1):c.585T>C (p.Asp195=)
NM_138459.5(NUS1):c.596A>C (p.Asp199Ala) rs765038821
NM_138459.5(NUS1):c.596A>G (p.Asp199Gly)
NM_138459.5(NUS1):c.598A>G (p.Ile200Val)
NM_138459.5(NUS1):c.599T>C (p.Ile200Thr)
NM_138459.5(NUS1):c.59G>C (p.Arg20Pro)
NM_138459.5(NUS1):c.601G>T (p.Val201Leu)
NM_138459.5(NUS1):c.612T>C (p.Ala204=) rs1382268428
NM_138459.5(NUS1):c.613C>G (p.Gln205Glu) rs2114687441
NM_138459.5(NUS1):c.621T>C (p.Phe207=)
NM_138459.5(NUS1):c.627G>A (p.Gln209=)
NM_138459.5(NUS1):c.627G>T (p.Gln209His)
NM_138459.5(NUS1):c.634G>T (p.Ala212Ser)
NM_138459.5(NUS1):c.63G>C (p.Thr21=) rs550854234
NM_138459.5(NUS1):c.646A>G (p.Lys216Glu)
NM_138459.5(NUS1):c.648G>A (p.Lys216=)
NM_138459.5(NUS1):c.650G>T (p.Arg217Ile) rs375663235
NM_138459.5(NUS1):c.669A>T (p.Val223=)
NM_138459.5(NUS1):c.66C>A (p.Leu22=) rs1772962927
NM_138459.5(NUS1):c.671A>G (p.Asp224Gly) rs2114687510
NM_138459.5(NUS1):c.676T>C (p.Leu226=) rs1773283339
NM_138459.5(NUS1):c.679G>C (p.Ala227Pro)
NM_138459.5(NUS1):c.681C>G (p.Ala227=)
NM_138459.5(NUS1):c.684T>A (p.Ser228Arg)
NM_138459.5(NUS1):c.68C>T (p.Thr23Ile)
NM_138459.5(NUS1):c.68CCT[1] (p.Ser24del)
NM_138459.5(NUS1):c.691+12T>A rs761687791
NM_138459.5(NUS1):c.691+12T>G rs761687791
NM_138459.5(NUS1):c.691+12TA[7] rs770616856
NM_138459.5(NUS1):c.691+12dup rs1241006666
NM_138459.5(NUS1):c.691+19A>G rs1342549880
NM_138459.5(NUS1):c.691+7T>G rs1373920649
NM_138459.5(NUS1):c.691+8T>G
NM_138459.5(NUS1):c.692-18TATT[2]
NM_138459.5(NUS1):c.692-1G>A rs1582477100
NM_138459.5(NUS1):c.692-2A>G rs2114693876
NM_138459.5(NUS1):c.695C>G (p.Ser232Ter)
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp) rs779757878
NM_138459.5(NUS1):c.6G>C (p.Thr2=)
NM_138459.5(NUS1):c.719T>G (p.Leu240Ter) rs2114693896
NM_138459.5(NUS1):c.745A>G (p.Ser249Gly) rs2114693915
NM_138459.5(NUS1):c.74G>A (p.Trp25Ter) rs1772963498
NM_138459.5(NUS1):c.74_75delinsAA (p.Trp25Ter) rs2114674385
NM_138459.5(NUS1):c.750A>G (p.Thr250=)
NM_138459.5(NUS1):c.756C>T (p.Gly252=)
NM_138459.5(NUS1):c.758T>C (p.Phe253Ser)
NM_138459.5(NUS1):c.762T>G (p.Leu254=) rs2114693923
NM_138459.5(NUS1):c.765C>T (p.Pro255=)
NM_138459.5(NUS1):c.765_769dup (p.His257fs) rs2114693926
NM_138459.5(NUS1):c.76C>T (p.Leu26Phe)
NM_138459.5(NUS1):c.788T>C (p.Ile263Thr)
NM_138459.5(NUS1):c.791+16C>G
NM_138459.5(NUS1):c.791+16C>T
NM_138459.5(NUS1):c.791+6T>C
NM_138459.5(NUS1):c.791+7A>G rs749556280
NM_138459.5(NUS1):c.791+7A>T
NM_138459.5(NUS1):c.791+9_791+12del rs1213017281
NM_138459.5(NUS1):c.792-13G>T rs1185248187
NM_138459.5(NUS1):c.792-18C>T
NM_138459.5(NUS1):c.792-19C>T
NM_138459.5(NUS1):c.792-20C>T
NM_138459.5(NUS1):c.792-3C>G
NM_138459.5(NUS1):c.796T>C (p.Leu266=)
NM_138459.5(NUS1):c.7G>A (p.Gly3Arg) rs1772960680
NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr) rs1554202852
NM_138459.5(NUS1):c.807C>T (p.His269=)
NM_138459.5(NUS1):c.810A>G (p.Leu270=)
NM_138459.5(NUS1):c.825G>A (p.Glu275=)
NM_138459.5(NUS1):c.828C>T (p.Asp276=)
NM_138459.5(NUS1):c.836_837dup (p.Ala280fs)
NM_138459.5(NUS1):c.842T>C (p.Leu281Pro)
NM_138459.5(NUS1):c.844C>G (p.Arg282Gly)
NM_138459.5(NUS1):c.849A>G (p.Gln283=) rs550676
NM_138459.5(NUS1):c.867G>A (p.Gln289=)
NM_138459.5(NUS1):c.868C>T (p.Arg290Cys) rs2114696019
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_138459.5(NUS1):c.875G>A (p.Gly292Glu)
NM_138459.5(NUS1):c.881A>G (p.Ter294Trp) rs2114696027
NM_138459.5(NUS1):c.882G>A (p.Ter294=)
NM_138459.5(NUS1):c.90C>T (p.Phe30=)
NM_138459.5(NUS1):c.93_101delinsAGCCAGGAACTGGAT (p.Thr32_Asn34delinsAlaArgAsnTrpIle)
NM_138459.5(NUS1):c.94A>G (p.Thr32Ala)
NM_138459.5(NUS1):c.94_101del (p.Thr32fs)
NM_138459.5(NUS1):c.95C>T (p.Thr32Ile)
NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)
NM_138459.5(NUS1):c.99dup (p.Asn34fs) rs1582461023
NM_152713.5(STT3A):c.1775-8dup rs750373548
NM_152713.5(STT3A):c.1877T>C (p.Val626Ala) rs587777216
NM_152713.5(STT3A):c.415A>C (p.Lys139Gln) rs1939729667
NM_153741.2(DPM3):c.104A>G (p.Gln35Arg)
NM_153741.2(DPM3):c.111C>T (p.Val37=) rs2102491788
NM_153741.2(DPM3):c.11T>C (p.Leu4Ser)
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala) rs745692004
NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser) rs1055439022
NM_153741.2(DPM3):c.179del (p.Arg60fs)
NM_153741.2(DPM3):c.184G>C (p.Ala62Pro) rs2102491677
NM_153741.2(DPM3):c.185C>T (p.Ala62Val) rs1553190791
NM_153741.2(DPM3):c.193C>T (p.His65Tyr)
NM_153741.2(DPM3):c.19T>C (p.Trp7Arg) rs1664705696
NM_153741.2(DPM3):c.205del (p.Asp69fs)
NM_153741.2(DPM3):c.215G>A (p.Arg72His)
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter) rs1444066075
NM_153741.2(DPM3):c.21G>C (p.Trp7Cys)
NM_153741.2(DPM3):c.229C>T (p.Gln77Ter) rs2102491600
NM_153741.2(DPM3):c.244C>T (p.Arg82Ter) rs749000879
NM_153741.2(DPM3):c.254T>A (p.Leu85Ter) rs121908155
NM_153741.2(DPM3):c.254T>C (p.Leu85Ser) rs121908155
NM_153741.2(DPM3):c.257C>A (p.Ala86Asp) rs752119871
NM_153741.2(DPM3):c.27G>A (p.Trp9Ter)
NM_153741.2(DPM3):c.28G>C (p.Gly10Arg) rs367584459
NM_153741.2(DPM3):c.29G>A (p.Gly10Glu) rs2102491894
NM_153741.2(DPM3):c.39C>T (p.Ile13=)
NM_153741.2(DPM3):c.42G>A (p.Leu14=)
NM_153741.2(DPM3):c.44G>T (p.Gly15Val) rs372215837
NM_153741.2(DPM3):c.48C>T (p.Ser16=) rs753265590
NM_153741.2(DPM3):c.59C>T (p.Ala20Val)
NM_153741.2(DPM3):c.5del (p.Thr2fs)
NM_153741.2(DPM3):c.6G>A (p.Thr2=)
NM_153741.2(DPM3):c.81C>T (p.Gly27=)
NM_153741.2(DPM3):c.95T>C (p.Leu32Ser) rs959102245
NM_178862.3(STT3B):c.1014G>T (p.Gln338His)
NM_178862.3(STT3B):c.1073C>T (p.Ser358Leu)
NM_178862.3(STT3B):c.1102G>T (p.Val368Phe)
NM_178862.3(STT3B):c.1170T>C (p.Thr390=) rs753179796
NM_178862.3(STT3B):c.11C>T (p.Pro4Leu) rs1250170448
NM_178862.3(STT3B):c.1263T>G (p.Leu421=)
NM_178862.3(STT3B):c.13T>C (p.Ser5Pro)
NM_178862.3(STT3B):c.1500T>C (p.Asp500=)
NM_178862.3(STT3B):c.1533T>C (p.Tyr511=)
NM_178862.3(STT3B):c.1562C>T (p.Ala521Val)
NM_178862.3(STT3B):c.1612A>G (p.Ile538Val)
NM_178862.3(STT3B):c.1638A>G (p.Leu546=)
NM_178862.3(STT3B):c.1725T>C (p.Asp575=) rs1699478483
NM_178862.3(STT3B):c.1727+15C>T
NM_178862.3(STT3B):c.1837G>A (p.Gly613Arg)
NM_178862.3(STT3B):c.1899+15_1899+16del rs764481566
NM_178862.3(STT3B):c.1900-11A>T
NM_178862.3(STT3B):c.1900-12T>A
NM_178862.3(STT3B):c.1948A>G (p.Arg650Gly) rs755361919
NM_178862.3(STT3B):c.201G>C (p.Gly67=)
NM_178862.3(STT3B):c.2071C>T (p.Arg691Trp)
NM_178862.3(STT3B):c.2072G>A (p.Arg691Gln) rs949533229
NM_178862.3(STT3B):c.225C>T (p.Thr75=) rs564276250
NM_178862.3(STT3B):c.2349C>A (p.His783Gln)
NM_178862.3(STT3B):c.2349C>T (p.His783=)
NM_178862.3(STT3B):c.2361C>A (p.Val787=)
NM_178862.3(STT3B):c.2378A>C (p.Lys793Thr)
NM_178862.3(STT3B):c.2401-17_2401-16del
NM_178862.3(STT3B):c.2401-5dup
NM_178862.3(STT3B):c.264C>T (p.Arg88=) rs2125430322
NM_178862.3(STT3B):c.307G>T (p.Asp103Tyr) rs2125430351
NM_178862.3(STT3B):c.32A>G (p.His11Arg)
NM_178862.3(STT3B):c.33C>T (p.His11=)
NM_178862.3(STT3B):c.387A>C (p.Arg129Ser)
NM_178862.3(STT3B):c.38C>G (p.Ser13Trp) rs1696976315
NM_178862.3(STT3B):c.424-5C>T rs1488969630
NM_178862.3(STT3B):c.448G>T (p.Ala150Ser)
NM_178862.3(STT3B):c.496A>G (p.Ile166Val)
NM_178862.3(STT3B):c.525A>G (p.Pro175=)
NM_178862.3(STT3B):c.598T>C (p.Leu200=)
NM_178862.3(STT3B):c.601G>A (p.Ala201Thr)
NM_178862.3(STT3B):c.765C>G (p.Ser255=) rs1698803700
NM_178862.3(STT3B):c.778-12C>A
NM_178862.3(STT3B):c.778-3T>C
NM_178862.3(STT3B):c.812A>G (p.Asn271Ser)
NM_178862.3(STT3B):c.878-15A>G rs761971315
NM_178862.3(STT3B):c.887C>G (p.Thr296Ser) rs375479861
NM_178862.3(STT3B):c.976+5G>T
NM_178862.3(STT3B):c.976+7A>T rs2125471874
NM_201400.4(EEF2KMT):c.*1074C>T rs1957081691
NM_201400.4(EEF2KMT):c.*885G>A rs780078713
NM_201400.4(EEF2KMT):c.*891A>T rs3187779
NM_201400.4(EEF2KMT):c.*892A>C
NM_201400.4(EEF2KMT):c.*893del rs1381360907
NM_201400.4(EEF2KMT):c.*893dup
NM_201400.4(EEF2KMT):c.*894T>A
NM_201400.4(EEF2KMT):c.*898G>C
NM_201400.4(EEF2KMT):c.*899A>T
NM_201400.4(EEF2KMT):c.*899del
NM_201400.4(EEF2KMT):c.*900G>C rs2142732074
PGM1, ARG521TER
Single allele

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