ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4634
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_000507.4(FBP1):c.960A>G (p.Gly320=) rs1769257 0.88821
NM_000642.3(AGL):c.959-18G>A rs634880 0.73702
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.37032
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12729
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11823
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06595
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04451
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03111
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607 0.02626
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_015028.4(TNIK):c.3012C>T (p.Ser1004=) rs61736291 0.02140
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634 0.02031
NM_017755.6(NSUN2):c.1602-17_1602-15del rs139131959 0.01987
NM_053013.4(ENO3):c.-88G>A rs73343373 0.01987
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887 0.01841
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016 0.01755
NM_002591.4(PCK1):c.611-16G>A rs75308972 0.01729
NM_000208.4(INSR):c.653-7del rs766817873 0.01622
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_000188.3(HK1):c.1031+6T>C rs57012387 0.01595
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01398
NM_024824.5(ZC3H14):c.432-3T>C rs77755006 0.01392
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_002299.4(LCT):c.454G>A (p.Ala152Thr) rs114525655 0.01241
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=) rs33973317 0.01145
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_024989.4(PGAP1):c.860+12C>A rs79169433 0.01022
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.00994
NM_001041.4(SI):c.692C>G (p.Thr231Ser) rs79468450 0.00993
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=) rs33915456 0.00975
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822 0.00879
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu) rs59357922 0.00793
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=) rs61733281 0.00738
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117 0.00691
NM_002863.5(PYGL):c.1093-6C>A rs147211684 0.00685
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00681
NM_003597.5(KLF11):c.429C>T (p.Ala143=) rs113903638 0.00679
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206 0.00666
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00638
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) rs35110875 0.00616
NM_138501.6(TECR):c.16-15G>A rs113855270 0.00585
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00559
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182 0.00548
NM_001807.6(CEL):c.1833G>C (p.Gly611=) rs1211933243 0.00547
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923 0.00530
NM_000642.3(AGL):c.*2060T>C rs191429370 0.00522
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00516
NM_003477.3(PDHX):c.160+15C>G rs187304189 0.00501
NM_012096.3(APPL1):c.256T>C (p.Leu86=) rs147166062 0.00501
NM_000181.4(GUSB):c.725-16C>T rs62470936 0.00473
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile) rs76033442 0.00462
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00460
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700 0.00442
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00442
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00416
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_002076.4(GNS):c.792+16A>G rs148924072 0.00415
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val) rs116216229 0.00409
NM_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099 0.00394
NM_001807.6(CEL):c.402C>G (p.Gly134=) rs150358550 0.00392
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00391
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00386
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_003619.4(PRSS12):c.2389C>T (p.Arg797Cys) rs35996030 0.00356
NM_004830.4(MED23):c.4080G>T (p.Val1360=) rs138742804 0.00342
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_000162.5(GCK):c.1019+18G>A rs150914617 0.00322
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776 0.00321
NM_020066.5(FMN2):c.5136T>G (p.Ser1712=) rs143796494 0.00321
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu) rs35776173 0.00300
NM_000292.3(PHKA2):c.2806+13C>A rs186550641 0.00296
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_003041.4(SLC5A2):c.1665+13G>A rs185753774 0.00285
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00279
NM_021956.5(GRIK2):c.2296G>A (p.Val766Ile) rs3213608 0.00266
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396 0.00263
NM_000207.3(INS):c.188-10G>A rs41275198 0.00260
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro) rs79002951 0.00255
NM_000642.3(AGL):c.*832G>A rs181486858 0.00251
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00243
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773 0.00234
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_001041.4(SI):c.4275A>G (p.Thr1425=) rs150151075 0.00228
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00219
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_000352.6(ABCC8):c.2391-17G>T rs201484528 0.00206
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00203
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser) rs187556368 0.00201
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_000208.4(INSR):c.2682+9C>G rs41398545 0.00197
NM_000642.3(AGL):c.-208C>T rs563389574 0.00192
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln) rs150096859 0.00192
NM_000434.4(NEU1):c.486C>T (p.Ala162=) rs115588976 0.00189
NM_004130.4(GYG1):c.609G>A (p.Val203=) rs75445811 0.00188
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00188
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00186
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00184
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00179
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00178
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419 0.00163
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys) rs146238335 0.00163
NM_003597.5(KLF11):c.225C>T (p.Val75=) rs144083374 0.00158
NM_001543.5(NDST1):c.927A>G (p.Pro309=) rs137903526 0.00156
NM_001041.4(SI):c.1218C>T (p.Asn406=) rs151296973 0.00152
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00150
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00149
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629 0.00143
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458 0.00133
NM_002863.5(PYGL):c.*78G>A rs190588867 0.00133
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212 0.00128
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00128
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00127
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107 0.00123
NM_001366110.1(PAX4):c.636C>T (p.Asp212=) rs141407429 0.00122
NM_000162.5(GCK):c.364-18A>G rs191255582 0.00118
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00116
NM_001041.4(SI):c.3972A>G (p.Pro1324=) rs142838806 0.00116
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00115
NM_000152.5(GAA):c.*288G>T rs568131293 0.00113
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284 0.00111
NM_000642.3(AGL):c.*1766G>A rs564167641 0.00109
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_000030.3(AGXT):c.573C>T (p.Thr191=) rs146483092 0.00108
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168 0.00108
NM_001807.6(CEL):c.1716C>G (p.Pro572=) rs200152972 0.00106
NM_000352.6(ABCC8):c.1924-17C>T rs117189973 0.00105
NM_138775.3(ALKBH8):c.1820C>G (p.Pro607Arg) rs150879765 0.00104
NM_000642.3(AGL):c.*604A>G rs189939228 0.00102
NM_003619.4(PRSS12):c.821-1G>A rs147303693 0.00101
NM_012096.3(APPL1):c.219T>C (p.Phe73=) rs150282222 0.00100
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760 0.00095
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) rs144007007 0.00093
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_000291.4(PGK1):c.909G>C (p.Val303=) rs142525614 0.00089
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu) rs138795531 0.00086
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00086
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270 0.00084
NM_000291.4(PGK1):c.390G>A (p.Gly130=) rs146350576 0.00083
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397 0.00083
NM_001366110.1(PAX4):c.69T>C (p.Pro23=) rs116124047 0.00082
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_001366110.1(PAX4):c.144+16C>T rs138902071 0.00080
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_012203.2(GRHPR):c.234C>T (p.Ile78=) rs143337459 0.00080
NM_001807.6(CEL):c.1689A>G (p.Thr563=) rs199941432 0.00077
NM_001807.6(CEL):c.1692G>T (p.Gly564=) rs200716123 0.00077
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626 0.00077
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu) rs142320636 0.00077
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00076
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=) rs150764699 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00074
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664 0.00074
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00074
NM_002294.3(LAMP2):c.*1413A>G rs773379092 0.00074
NM_002294.3(LAMP2):c.*3488C>T rs773236667 0.00074
NM_001807.6(CEL):c.1335C>T (p.Pro445=) rs371892814 0.00073
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_001715.3(BLK):c.1338C>G (p.Arg446=) rs377160616 0.00072
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00072
NM_005883.3(APC2):c.5108C>A (p.Ala1703Glu) rs200444154 0.00072
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_001041.4(SI):c.876C>T (p.Phe292=) rs139642816 0.00070
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00069
NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro) rs150800688 0.00069
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=) rs200413076 0.00066
NM_002294.3(LAMP2):c.*1632A>G rs755434692 0.00066
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_001041.4(SI):c.4541-18T>G rs111418304 0.00064
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000162.5(GCK):c.46-5598A>T rs13306393 0.00060
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454 0.00060
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro) rs562249191 0.00060
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00058
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00058
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00058
NM_000642.3(AGL):c.-134C>G rs548243205 0.00057
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_001041.4(SI):c.3466C>T (p.Leu1156=) rs144285578 0.00056
NM_001041.4(SI):c.484-8C>G rs201820421 0.00056
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val) rs143778652 0.00056
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr) rs150200902 0.00056
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) rs145880201 0.00056
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu) rs530062090 0.00055
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser) rs185631651 0.00054
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe) rs181879065 0.00054
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=) rs150083315 0.00053
NM_000507.4(FBP1):c.275C>T (p.Thr92Met) rs141270413 0.00052
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064 0.00051
NM_001040716.2(PC):c.3391G>A (p.Val1131Met) rs116518022 0.00051
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_005327.7(HADH):c.-115del rs537335460 0.00051
NM_000642.3(AGL):c.*595A>G rs763929813 0.00050
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) rs201466857 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser) rs116455504 0.00047
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser) rs199610919 0.00046
NM_000030.3(AGXT):c.777-17C>A rs112319664 0.00046
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_001041.4(SI):c.3634-14A>T rs199634091 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780 0.00045
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp) rs141441030 0.00045
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala) rs149974794 0.00045
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His) rs139041112 0.00044
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290 0.00043
NM_001041.4(SI):c.2721T>C (p.Tyr907=) rs140829463 0.00043
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met) rs199644216 0.00043
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp) rs150763745 0.00042
NM_000642.3(AGL):c.*564T>C rs552782825 0.00042
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr) rs564129447 0.00041
NM_004130.4(GYG1):c.68G>A (p.Gly23Glu) rs112622137 0.00041
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256 0.00041
NM_001041.4(SI):c.1278+8T>G rs368886500 0.00040
NM_001041.4(SI):c.885T>C (p.Phe295=) rs141754766 0.00040
NM_003477.3(PDHX):c.242-17C>T rs188930453 0.00040
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000340.2(SLC2A2):c.963+14C>T rs189551647 0.00039
NM_001041.4(SI):c.4451G>A (p.Arg1484His) rs145246112 0.00039
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile) rs782644732 0.00039
NM_002294.3(LAMP2):c.*4961A>G rs765371462 0.00039
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639 0.00039
NM_175914.5(HNF4A):c.921C>T (p.Asp307=) rs151168174 0.00039
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg) rs201183167 0.00038
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=) rs1800854 0.00038
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu) rs375754042 0.00038
NM_001807.6(CEL):c.777+7G>A rs200749469 0.00038
NM_003597.5(KLF11):c.1503G>A (p.Pro501=) rs36091043 0.00038
NM_021957.4(GYS2):c.1128C>T (p.Asn376=) rs139043251 0.00038
NM_000030.3(AGXT):c.424-4T>C rs369523966 0.00036
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961 0.00036
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000352.6(ABCC8):c.2390+17G>C rs200705248 0.00035
NM_001041.4(SI):c.2737G>T (p.Val913Phe) rs200328496 0.00035
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00035
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln) rs141379798 0.00034
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=) rs142046439 0.00034
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr) rs142008108 0.00034
NM_005609.4(PYGM):c.761A>T (p.Asn254Ile) rs149067043 0.00034
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085 0.00033
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00033
NM_213606.4(SLC16A12):c.1217C>G (p.Ser406Cys) rs145362501 0.00033
NM_000027.4(AGA):c.792G>A (p.Met264Ile) rs369967348 0.00032
NM_001041.4(SI):c.4268-12G>C rs200234624 0.00032
NM_000147.5(FUCA1):c.-44G>A rs139832548 0.00031
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00031
NM_000545.8(HNF1A):c.1501+6C>T rs374306837 0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000152.5(GAA):c.1754+11C>T rs371644603 0.00030
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682 0.00030
NM_017721.5(CC2D1A):c.2707C>T (p.Arg903Trp) rs376443152 0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr) rs144407534 0.00029
NM_000642.3(AGL):c.*1075T>A rs886044931 0.00029
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00029
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser) rs200632199 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001041.4(SI):c.1919A>G (p.Glu640Gly) rs142789249 0.00028
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu) rs373902181 0.00028
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr) rs143596402 0.00028
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr) rs141341430 0.00028
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg) rs138183791 0.00027
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile) rs75076115 0.00027
NM_002863.5(PYGL):c.1828-9T>A rs372338710 0.00027
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00027
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
NM_000203.5(IDUA):c.-71C>T rs886059748 0.00026
NM_000291.4(PGK1):c.642-20A>C rs201622343 0.00026
NM_000352.6(ABCC8):c.1923+3G>A rs374869130 0.00026
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00026
NM_000458.4(HNF1B):c.1207-18T>C rs199849203 0.00026
NM_001041.4(SI):c.322T>G (p.Phe108Val) rs146006371 0.00026
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln) rs147182402 0.00026
NM_001807.6(CEL):c.1485-8C>T rs185188893 0.00026
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514 0.00026
NM_138413.4(HOGA1):c.603+19G>A rs370990433 0.00026
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys) rs202051939 0.00025
NM_001041.4(SI):c.1587G>A (p.Pro529=) rs531422962 0.00025
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) rs138461745 0.00025
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala) rs139661242 0.00025
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00025
NM_006765.4(TUSC3):c.1028+11T>C rs187670751 0.00025
NM_000030.3(AGXT):c.243G>A (p.Ser81=) rs145135990 0.00024
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00024
NM_001041.4(SI):c.2301+20T>G rs576773147 0.00024
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00024
NM_001366110.1(PAX4):c.762C>T (p.Ile254=) rs147670794 0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_002294.3(LAMP2):c.*5172A>G rs778592348 0.00024
NM_012203.2(GRHPR):c.345A>T (p.Ala115=) rs147053190 0.00024
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln) rs199560759 0.00024
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys) rs199893133 0.00024
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met) rs115282699 0.00024
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652 0.00023
NM_001041.4(SI):c.5384C>T (p.Ser1795Leu) rs139504152 0.00023
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr) rs202177461 0.00022
NM_000343.4(SLC5A1):c.1752T>G (p.Pro584=) rs149362007 0.00022
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) rs137852672 0.00022
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln) rs115923648 0.00022
NM_001715.3(BLK):c.368+13G>A rs199644751 0.00022
NM_001715.3(BLK):c.424A>G (p.Ile142Val) rs562247916 0.00022
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys) rs200247956 0.00022
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222 0.00021
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00021
NM_000162.5(GCK):c.208+17G>A rs199822205 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021 0.00021
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521 0.00021
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr) rs77131926 0.00021
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) rs202084554 0.00021
NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val) rs115159138 0.00021
NM_005566.4(LDHA):c.777G>A (p.Leu259=) rs137996815 0.00021
NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln) rs368608057 0.00021
NM_175914.5(HNF4A):c.-79C>T rs373143621 0.00021
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_001041.4(SI):c.2828G>C (p.Cys943Ser) rs375113759 0.00020
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00020
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=) rs143991162 0.00019
NM_000151.4(G6PC1):c.81G>C (p.Gln27His) rs371611000 0.00019
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747 0.00019
NM_000152.5(GAA):c.250G>A (p.Val84Ile) rs139595011 0.00019
NM_000207.3(INS):c.-153C>G rs915076855 0.00019
NM_000207.3(INS):c.17G>A (p.Arg6His) rs121908259 0.00019
NM_000343.4(SLC5A1):c.1066G>A (p.Gly356Ser) rs141412905 0.00019
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00019
NM_000642.3(AGL):c.*1224C>T rs12563807 0.00019
NM_001041.4(SI):c.1285G>A (p.Ala429Thr) rs556583179 0.00019
NM_001041.4(SI):c.1544G>T (p.Gly515Val) rs144972103 0.00019
NM_001041.4(SI):c.3732C>T (p.Asp1244=) rs200449490 0.00019
NM_001366110.1(PAX4):c.345G>A (p.Gln115=) rs115157546 0.00019
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772 0.00019
NM_138413.4(HOGA1):c.299T>C (p.Met100Thr) rs201630144 0.00019
NM_175914.5(HNF4A):c.576C>T (p.Asp192=) rs759574096 0.00019
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) rs372799904 0.00018
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00018
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln) rs145390070 0.00018
NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=) rs5408 0.00018
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00018
NM_000512.5(GALNS):c.685T>C (p.Tyr229His) rs151165725 0.00018
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) rs143987049 0.00018
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863 0.00018
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile) rs371426683 0.00018
NM_001807.6(CEL):c.1677T>C (p.Pro559=) rs527908529 0.00018
NM_002500.5(NEUROD1):c.1031G>A (p.Arg344Gln) rs146389992 0.00018
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys) rs765844107 0.00018
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp) rs142835989 0.00018
NM_031229.4(RBCK1):c.-9C>A rs140276089 0.00018
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met) rs372961495 0.00018
NM_175914.5(HNF4A):c.724G>A (p.Val242Met) rs139779712 0.00018
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502 0.00017
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) rs550837627 0.00017
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00017
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr) rs373857078 0.00017
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg) rs147400498 0.00017
NM_000642.3(AGL):c.*2160C>T rs753401733 0.00017
NM_001041.4(SI):c.2343T>C (p.Tyr781=) rs539868642 0.00017
NM_001041.4(SI):c.5108+16A>G rs149803140 0.00017
NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr) rs140508520 0.00017
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000343.4(SLC5A1):c.208-8G>A rs199783226 0.00016
NM_000352.6(ABCC8):c.4412-14C>T rs193922404 0.00016
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr) rs147798914 0.00016
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_001041.4(SI):c.3854T>C (p.Ile1285Thr) rs375443860 0.00016
NM_001041.4(SI):c.5245C>A (p.Gln1749Lys) rs187532711 0.00016
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_003597.5(KLF11):c.992G>T (p.Gly331Val) rs151317435 0.00016
NM_005566.4(LDHA):c.558T>C (p.His186=) rs570034363 0.00016
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr) rs200688234 0.00016
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile) rs141723499 0.00016
NM_012203.2(GRHPR):c.343G>A (p.Ala115Thr) rs113602485 0.00016
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_138413.4(HOGA1):c.579G>A (p.Val193=) rs142057128 0.00016
NM_138413.4(HOGA1):c.715G>A (p.Val239Ile) rs189919790 0.00016
NC_000012.12:g.120978511A>G rs756136537 0.00015
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132 0.00015
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn) rs371314015 0.00015
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000291.4(PGK1):c.761G>C (p.Gly254Ala) rs148399096 0.00015
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys) rs201800716 0.00015
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser) rs753397171 0.00015
NM_001366110.1(PAX4):c.563-11G>A rs376403180 0.00015
NM_001715.3(BLK):c.1351G>A (p.Gly451Ser) rs199605698 0.00015
NM_001807.6(CEL):c.472G>A (p.Val158Met) rs190538939 0.00015
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp) rs730880478 0.00015
NM_003597.5(KLF11):c.437C>T (p.Ala146Val) rs148968483 0.00015
NM_005566.4(LDHA):c.-24-10C>G rs200267888 0.00015
NM_005566.4(LDHA):c.594G>C (p.Val198=) rs373534867 0.00015
NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr) rs573292460 0.00015
NM_138413.4(HOGA1):c.395C>T (p.Ala132Val) rs200236086 0.00015
NM_000152.5(GAA):c.1888+5G>T rs528282884 0.00014
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819 0.00014
NM_000458.4(HNF1B):c.1046-12G>A rs201751705 0.00014
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly) rs150637770 0.00014
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099 0.00014
NM_000642.3(AGL):c.4076G>A (p.Arg1359His) rs201533636 0.00014
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val) rs148492494 0.00014
NM_001041.4(SI):c.2150T>A (p.Val717Asp) rs188320908 0.00014
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter) rs142090504 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651 0.00014
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00014
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025 0.00013
NM_000209.4(PDX1):c.296C>A (p.Pro99His) rs764870332 0.00013
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591 0.00013
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr) rs139760182 0.00013
NM_001041.4(SI):c.325G>A (p.Val109Ile) rs149498200 0.00013
NM_001041.4(SI):c.4540+4A>G rs201654919 0.00013
NM_001041.4(SI):c.5109-15A>C rs371915462 0.00013
NM_002500.5(NEUROD1):c.195C>T (p.Asp65=) rs147643871 0.00013
NM_005908.4(MANBA):c.1499G>A (p.Arg500His) rs147542645 0.00013
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr) rs201834329 0.00013
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00013
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_000030.3(AGXT):c.596-7T>C rs368799073 0.00012
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) rs375433002 0.00012
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr) rs147453689 0.00012
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366 0.00012
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00012
NM_001041.4(SI):c.2599T>C (p.Tyr867His) rs140230726 0.00012
NM_001041.4(SI):c.4849G>C (p.Asp1617His) rs202225928 0.00012
NM_001041.4(SI):c.749G>A (p.Arg250His) rs530009542 0.00012
NM_001164277.2(SLC37A4):c.148+20G>A rs782050642 0.00012
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749 0.00012
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00012
NM_001715.3(BLK):c.859G>A (p.Val287Met) rs1042687 0.00012
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu) rs121918404 0.00012
NM_138413.4(HOGA1):c.541G>C (p.Asp181His) rs148621526 0.00012
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123 0.00011
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys) rs201397971 0.00011
NM_000035.4(ALDOB):c.445C>T (p.Arg149Cys) rs190464963 0.00011
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469 0.00011
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00011
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785 0.00011
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His) rs199763382 0.00011
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790 0.00011
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472 0.00011
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys) rs144705160 0.00011
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974 0.00011
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531 0.00011
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln) rs755385132 0.00011
NM_001041.4(SI):c.4133T>G (p.Ile1378Ser) rs148831941 0.00011
NM_001041.4(SI):c.5C>A (p.Ala2Glu) rs201612742 0.00011
NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys) rs150009231 0.00011
NM_001715.3(BLK):c.772+16C>T rs200129390 0.00011
NM_001715.3(BLK):c.809C>T (p.Thr270Met) rs368427116 0.00011
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 0.00011
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile) rs147863207 0.00011
NM_003041.4(SLC5A2):c.1145T>C (p.Met382Thr) rs141627694 0.00011
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998 0.00011
NM_003597.5(KLF11):c.358A>G (p.Arg120Gly) rs201792575 0.00011
NM_005566.4(LDHA):c.445A>G (p.Lys149Glu) rs145506651 0.00011
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile) rs201389731 0.00011
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu) rs372851103 0.00011
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272 0.00011
NM_012203.2(GRHPR):c.149C>T (p.Ala50Val) rs150805048 0.00011
NM_012434.5(SLC17A5):c.1250T>C (p.Ile417Thr) rs201543957 0.00011
NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val) rs144672735 0.00011
NM_016219.5(MAN1B1):c.163A>C (p.Ser55Arg) rs372680556 0.00011
NM_000030.3(AGXT):c.763G>A (p.Asp255Asn) rs547633289 0.00010
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000152.5(GAA):c.725C>A (p.Ala242Glu) rs745861849 0.00010
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) rs147569830 0.00010
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_000209.4(PDX1):c.664G>A (p.Glu222Lys) rs368507502 0.00010
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000291.4(PGK1):c.937-8C>T rs367749559 0.00010
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met) rs33975915 0.00010
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=) rs199541853 0.00010
NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=) rs778961697 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000525.4(KCNJ11):c.-54C>T rs1016780684 0.00010
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256 0.00010
NM_000925.4(PDHB):c.10G>A (p.Val4Met) rs201470762 0.00010
NM_001041.4(SI):c.1378A>T (p.Ser460Cys) rs141450837 0.00010
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter) rs200451408 0.00010
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser) rs138927818 0.00010
NM_001041.4(SI):c.4062+18T>C rs367787760 0.00010
NM_001160372.4(TRAPPC9):c.2882C>T (p.Ala961Val) rs769398594 0.00010
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln) rs782703235 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00010
NM_001715.3(BLK):c.139C>G (p.Leu47Val) rs202045056 0.00010
NM_001807.6(CEL):c.2092T>G (p.Ser698Ala) rs587780310 0.00010
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys) rs200481790 0.00010
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055 0.00010
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter) rs146195866 0.00010
NM_138413.4(HOGA1):c.910G>A (p.Ala304Thr) rs116527624 0.00010
NM_138413.4(HOGA1):c.934G>A (p.Ala312Thr) rs115431683 0.00010
NM_000046.5(ARSB):c.181G>A (p.Gly61Ser) rs375647920 0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000158.4(GBE1):c.496C>T (p.Arg166Cys) rs376546162 0.00009
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp) rs751604358 0.00009
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr) rs369970264 0.00009
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile) rs121909741 0.00009
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met) rs751917665 0.00009
NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn) rs777986828 0.00009
NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=) rs368134766 0.00009
NM_000458.4(HNF1B):c.1534+11G>A rs373875820 0.00009
NM_000458.4(HNF1B):c.1654-9T>A rs200579660 0.00009
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443 0.00009
NM_000525.4(KCNJ11):c.*218G>T rs886048039 0.00009
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His) rs145935651 0.00009
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn) rs752219487 0.00009
NM_000642.3(AGL):c.*1691A>G rs886044933 0.00009
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006 0.00009
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp) rs370797337 0.00009
NM_001041.4(SI):c.1686T>C (p.Tyr562=) rs763063946 0.00009
NM_001041.4(SI):c.1694G>C (p.Ser565Thr) rs149898910 0.00009
NM_001160372.4(TRAPPC9):c.136G>A (p.Val46Met) rs201233141 0.00009
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu) rs370839177 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001366110.1(PAX4):c.488G>A (p.Arg163Gln) rs375269956 0.00009
NM_001366110.1(PAX4):c.498C>T (p.His166=) rs143156250 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_002294.3(LAMP2):c.1093+2544A>G rs777128122 0.00009
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp) rs369032377 0.00009
NM_002500.5(NEUROD1):c.758T>C (p.Leu253Pro) rs147634094 0.00009
NM_003041.4(SLC5A2):c.506del (p.Ala169fs) rs768095044 0.00009
NM_005566.4(LDHA):c.854A>T (p.Asp285Val) rs147520495 0.00009
NM_005609.4(PYGM):c.100C>T (p.Arg34Trp) rs531748591 0.00009
NM_005609.4(PYGM):c.1403+5G>A rs373040789 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser) rs115690781 0.00009
NM_005908.4(MANBA):c.683C>T (p.Ala228Val) rs767233763 0.00009
NM_006618.5(KDM5B):c.202C>A (p.Pro68Thr) rs369444528 0.00009
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) rs369950120 0.00009
NM_012434.5(SLC17A5):c.290C>T (p.Thr97Met) rs554114742 0.00009
NM_021957.4(GYS2):c.495+1G>T rs372079212 0.00009
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257 0.00009
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln) rs142883089 0.00009
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.546+6C>T rs375727055 0.00008
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000308.4(CTSA):c.920G>A (p.Arg307His) rs199808601 0.00008
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp) rs200626260 0.00008
NM_000352.6(ABCC8):c.1662T>G (p.Ala554=) rs368782953 0.00008
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met) rs201351976 0.00008
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_000352.6(ABCC8):c.765C>T (p.Ile255=) rs753335564 0.00008
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met) rs770375846 0.00008
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser) rs72554079 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000545.8(HNF1A):c.-62C>G rs753567412 0.00008
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu) rs558217174 0.00008
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys) rs375254875 0.00008
NM_001041.4(SI):c.3331A>G (p.Ile1111Val) rs145913658 0.00008
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu) rs574552408 0.00008
NM_001041.4(SI):c.5252C>T (p.Thr1751Ile) rs377361477 0.00008
NM_001041.4(SI):c.8G>T (p.Arg3Ile) rs766454276 0.00008
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983 0.00008
NM_002076.4(GNS):c.*3dup rs766104697 0.00008
NM_003041.4(SLC5A2):c.500del (p.Gln167fs) rs267607067 0.00008
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) rs201042910 0.00008
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00008
NM_005609.4(PYGM):c.1919G>A (p.Arg640His) rs141267088 0.00008
NM_012203.2(GRHPR):c.357A>G (p.Leu119=) rs186922220 0.00008
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00008
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525 0.00007
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys) rs202134230 0.00007
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00007
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811 0.00007
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610 0.00007
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036 0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124 0.00007
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00007
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp) rs200921389 0.00007
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740 0.00007
NM_000209.4(PDX1):c.498A>G (p.Leu166=) rs780117858 0.00007
NM_000291.4(PGK1):c.129T>C (p.Ala43=) rs781822299 0.00007
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter) rs371296953 0.00007
NM_000293.3(PHKB):c.1127-2A>G rs535749057 0.00007
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) rs149244943 0.00007
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271 0.00007
NM_000340.2(SLC2A2):c.372-16C>T rs372176041 0.00007
NM_000340.2(SLC2A2):c.496+6_496+7dup rs111737375 0.00007
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540 0.00007
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn) rs781480098 0.00007
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00007
NM_000458.4(HNF1B):c.1534+10C>T rs368168569 0.00007
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00007
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys) rs770791374 0.00007
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys) rs199660743 0.00007
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg) rs149914040 0.00007
NM_000642.3(AGL):c.846+8T>A rs372517543 0.00007
NM_001041.4(SI):c.1147-6T>A rs146539849 0.00007
NM_001041.4(SI):c.1438C>A (p.Pro480Thr) rs752986538 0.00007
NM_001041.4(SI):c.3424-10C>T rs367683519 0.00007
NM_001041.4(SI):c.355A>T (p.Met119Leu) rs746151218 0.00007
NM_001041.4(SI):c.4000-18A>G rs764830211 0.00007
NM_001041.4(SI):c.4008A>G (p.Pro1336=) rs747858019 0.00007
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala) rs758043919 0.00007
NM_001041.4(SI):c.4500C>T (p.Asp1500=) rs553547580 0.00007
NM_001041.4(SI):c.5049A>G (p.Leu1683=) rs199658617 0.00007
NM_001041.4(SI):c.5198-7T>C rs200924086 0.00007
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys) rs11552539 0.00007
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=) rs368678559 0.00007
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=) rs781824710 0.00007
NM_001366110.1(PAX4):c.572G>A (p.Arg191His) rs145284016 0.00007
NM_001715.3(BLK):c.675G>A (p.Pro225=) rs761122806 0.00007
NM_002294.3(LAMP2):c.*1191A>T rs1004327482 0.00007
NM_002500.5(NEUROD1):c.1013G>C (p.Ser338Thr) rs767837260 0.00007
NM_002500.5(NEUROD1):c.34G>C (p.Gly12Arg) rs556400603 0.00007
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile) rs755299574 0.00007
NM_003597.5(KLF11):c.608G>A (p.Gly203Glu) rs145588324 0.00007
NM_003597.5(KLF11):c.961G>C (p.Ala321Pro) rs776725808 0.00007
NM_005566.4(LDHA):c.127-14T>C rs764597107 0.00007
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) rs749358752 0.00007
NM_005609.4(PYGM):c.146C>A (p.Pro49Gln) rs368649966 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp) rs200058475 0.00007
NM_005609.4(PYGM):c.2411G>A (p.Arg804Gln) rs372295369 0.00007
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) rs774654020 0.00007
NM_012203.2(GRHPR):c.180C>T (p.Ser60=) rs139689525 0.00007
NM_012434.5(SLC17A5):c.1316T>C (p.Val439Ala) rs573439155 0.00007
NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu) rs374866581 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_017721.5(CC2D1A):c.1966G>A (p.Asp656Asn) rs775641463 0.00007
NM_024298.5(MBOAT7):c.754G>A (p.Ala252Thr) rs766679693 0.00007
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589 0.00007
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000030.3(AGXT):c.214A>C (p.Asn72His) rs754637713 0.00006
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297 0.00006
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240 0.00006
NM_000030.3(AGXT):c.888G>A (p.Ala296=) rs979513298 0.00006
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser) rs369472089 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00006
NM_000152.5(GAA):c.1754+17G>A rs769797291 0.00006
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.420C>A (p.Asn140Lys) rs560661191 0.00006
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) rs200125735 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000208.4(INSR):c.1628C>T (p.Thr543Met) rs767160876 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000289.6(PFKM):c.857G>A (p.Arg286His) rs768496070 0.00006
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr) rs199644680 0.00006
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735 0.00006
NM_000340.2(SLC2A2):c.914T>C (p.Leu305Pro) rs938526894 0.00006
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930 0.00006
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His) rs143557848 0.00006
NM_000352.6(ABCC8):c.647G>A (p.Arg216His) rs199702708 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln) rs780634117 0.00006
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys) rs758749160 0.00006
NM_000525.4(KCNJ11):c.344A>G (p.His115Arg) rs374334444 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00006
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=) rs376279459 0.00006
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile) rs146855738 0.00006
NM_000545.8(HNF1A):c.245C>T (p.Thr82Met) rs568123980 0.00006
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser) rs180768312 0.00006
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg) rs773044002 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_000642.3(AGL):c.767G>A (p.Arg256His) rs200180652 0.00006
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr) rs542486536 0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_001041.4(SI):c.1219G>A (p.Gly407Arg) rs559599846 0.00006
NM_001041.4(SI):c.3099G>A (p.Lys1033=) rs201844171 0.00006
NM_001041.4(SI):c.4873T>G (p.Phe1625Val) rs149414344 0.00006
NM_001041.4(SI):c.748C>T (p.Arg250Cys) rs200745562 0.00006
NM_001041.4(SI):c.826G>A (p.Gly276Ser) rs371801531 0.00006
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu) rs782025581 0.00006
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00006
NM_001543.5(NDST1):c.1690G>C (p.Val564Leu) rs774976739 0.00006
NM_001807.6(CEL):c.1412C>T (p.Thr471Met) rs199524286 0.00006
NM_001807.6(CEL):c.670-4G>A rs371303105 0.00006
NM_002294.3(LAMP2):c.*3689T>C rs975386272 0.00006
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser) rs766491800 0.00006
NM_002500.5(NEUROD1):c.*1A>G rs148104444 0.00006
NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala) rs371605092 0.00006
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=) rs539749063 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003597.5(KLF11):c.673A>C (p.Ser225Arg) rs200061013 0.00006
NM_004130.4(GYG1):c.175A>G (p.Ile59Val) rs535548906 0.00006
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_006721.4(ADK):c.66-23885T>A rs370191448 0.00006
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala) rs372477546 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_016203.4(PRKAG2):c.-397G>C rs886062106 0.00006
NM_017721.5(CC2D1A):c.61-2A>G rs200450636 0.00006
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=) rs201470953 0.00006
NM_138413.4(HOGA1):c.834G>A (p.Ala278=) rs770050262 0.00006
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met) rs761054871 0.00006
NM_175914.5(HNF4A):c.1063+120G>A rs145360792 0.00006
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln) rs202073574 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln) rs764196059 0.00006
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 0.00006
NM_000030.3(AGXT):c.1002C>T (p.Asp334=) rs370897272 0.00005
NM_000030.3(AGXT):c.353G>A (p.Arg118His) rs138025751 0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527 0.00005
NM_000030.3(AGXT):c.887C>T (p.Ala296Val) rs147109132 0.00005
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00005
NM_000151.4(G6PC1):c.*103C>T rs1032152255 0.00005
NM_000151.4(G6PC1):c.786C>T (p.Leu262=) rs138509513 0.00005
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn) rs750711451 0.00005
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00005
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534 0.00005
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883 0.00005
NM_000152.5(GAA):c.2481+15C>T rs771155956 0.00005
NM_000152.5(GAA):c.359C>G (p.Ala120Gly) rs779208773 0.00005
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00005
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00005
NM_000155.4(GALT):c.611G>A (p.Arg204Gln) rs111033740 0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198 0.00005
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908 0.00005
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00005
NM_000209.4(PDX1):c.284C>A (p.Pro95Gln) rs375009107 0.00005
NM_000262.3(NAGA):c.324+1G>A rs140673721 0.00005
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00005
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly) rs929302665 0.00005
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144 0.00005
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn) rs778051353 0.00005
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln) rs138299462 0.00005
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn) rs137854544 0.00005
NM_000340.2(SLC2A2):c.1039G>A (p.Ala347Thr) rs776435170 0.00005
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val) rs201216997 0.00005
NM_000343.4(SLC5A1):c.1054G>A (p.Glu352Lys) rs200308405 0.00005
NM_000343.4(SLC5A1):c.34G>A (p.Ala12Thr) rs202189110 0.00005
NM_000343.4(SLC5A1):c.89C>T (p.Ser30Phe) rs201689857 0.00005
NM_000343.4(SLC5A1):c.928G>A (p.Val310Met) rs200727862 0.00005
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln) rs376080397 0.00005
NM_000352.6(ABCC8):c.1555C>T (p.Arg519Cys) rs1057467571 0.00005
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile) rs376206979 0.00005
NM_000352.6(ABCC8):c.2870G>A (p.Arg957His) rs775921458 0.00005
NM_000352.6(ABCC8):c.2883G>A (p.Ser961=) rs556416269 0.00005
NM_000352.6(ABCC8):c.2888A>G (p.Asp963Gly) rs538013271 0.00005
NM_000352.6(ABCC8):c.298G>A (p.Glu100Lys) rs200687571 0.00005
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser) rs1057517139 0.00005
NM_000352.6(ABCC8):c.984G>T (p.Gly328=) rs751181213 0.00005
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314 0.00005
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410 0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe) rs544890850 0.00005
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp) rs536638039 0.00005
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00005
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00005
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln) rs140878602 0.00005
NM_001040716.2(PC):c.561C>T (p.Tyr187=) rs145333590 0.00005
NM_001041.4(SI):c.1420T>C (p.Tyr474His) rs771986263 0.00005
NM_001041.4(SI):c.2074C>T (p.Arg692Cys) rs371618948 0.00005
NM_001041.4(SI):c.2369A>G (p.His790Arg) rs149382090 0.00005
NM_001041.4(SI):c.2380G>A (p.Gly794Ser) rs138778317 0.00005
NM_001041.4(SI):c.3827A>G (p.Gln1276Arg) rs775422246 0.00005
NM_001041.4(SI):c.4000-15T>A rs201336234 0.00005
NM_001041.4(SI):c.4000G>A (p.Val1334Ile) rs961160800 0.00005
NM_001041.4(SI):c.5300C>T (p.Thr1767Met) rs199881454 0.00005
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val) rs537115620 0.00005
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val) rs782475284 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00005
NM_001807.6(CEL):c.73G>A (p.Ala25Thr) rs779607772 0.00005
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala) rs202228620 0.00005
NM_002076.4(GNS):c.791C>T (p.Thr264Met) rs575544204 0.00005
NM_002294.3(LAMP2):c.*2538A>C rs1057515739 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_002299.4(LCT):c.4173+5G>A rs575414951 0.00005
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973 0.00005
NM_003041.4(SLC5A2):c.178C>T (p.Arg60Cys) rs201586410 0.00005
NM_003041.4(SLC5A2):c.968C>A (p.Thr323Lys) rs764563027 0.00005
NM_003597.5(KLF11):c.1169G>A (p.Arg390Gln) rs563767876 0.00005
NM_005566.4(LDHA):c.269A>G (p.Lys90Arg) rs200332813 0.00005
NM_005609.4(PYGM):c.1546C>T (p.Leu516=) rs767703629 0.00005
NM_005609.4(PYGM):c.193G>A (p.Val65Met) rs149658961 0.00005
NM_005609.4(PYGM):c.2178-1G>A rs143670942 0.00005
NM_005609.4(PYGM):c.660+17G>A rs767910783 0.00005
NM_005609.4(PYGM):c.855+4C>T rs199834605 0.00005
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val) rs141947405 0.00005
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) rs200828053 0.00005
NM_012203.2(GRHPR):c.342C>T (p.Leu114=) rs374108537 0.00005
NM_012434.5(SLC17A5):c.1260-2A>C rs144074675 0.00005
NM_013995.2(LAMP2):c.-154T>C rs999307628 0.00005
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) rs761196275 0.00005
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142 0.00005
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731 0.00005
NM_031466.8(TRAPPC9):c.-73G>C rs767996463 0.00005
NM_138413.4(HOGA1):c.764G>A (p.Arg255Gln) rs201145417 0.00005
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys) rs367741588 0.00005
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly) rs773104757 0.00005
NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln) rs371557531 0.00005
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg) rs747928745 0.00005
NM_175914.5(HNF4A):c.670+7C>T rs376544046 0.00005
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val) rs140143857 0.00005
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_000030.3(AGXT):c.484G>A (p.Val162Met) rs147497484 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) rs180177260 0.00004
NM_000035.4(ALDOB):c.379+1G>T rs138121153 0.00004
NM_000035.4(ALDOB):c.401G>A (p.Arg134His) rs145252200 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197 0.00004
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu) rs773498009 0.00004
NM_000152.5(GAA):c.502C>T (p.Arg168Trp) rs777473001 0.00004
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491 0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu) rs751025746 0.00004
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272 0.00004
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) rs121918172 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln) rs121434533 0.00004
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) rs374547385 0.00004
NM_000291.4(PGK1):c.116+8C>T rs369581587 0.00004
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser) rs781839243 0.00004
NM_000340.2(SLC2A2):c.852G>A (p.Ser284=) rs371899639 0.00004
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743 0.00004
NM_000343.4(SLC5A1):c.1693A>G (p.Asn565Asp) rs33948878 0.00004
NM_000343.4(SLC5A1):c.593C>T (p.Ala198Val) rs142137533 0.00004
NM_000352.6(ABCC8):c.1270G>A (p.Asp424Asn) rs577545383 0.00004
NM_000352.6(ABCC8):c.1281G>A (p.Gln427=) rs112488640 0.00004
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000352.6(ABCC8):c.2222+15C>A rs377174421 0.00004
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile) rs759961510 0.00004
NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys) rs768448830 0.00004
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His) rs372153432 0.00004
NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr) rs756552692 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000458.4(HNF1B):c.723G>A (p.Ala241=) rs768490293 0.00004
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr) rs763184657 0.00004
NM_000512.5(GALNS):c.715G>A (p.Val239Ile) rs145131011 0.00004
NM_000525.4(KCNJ11):c.86G>A (p.Arg29His) rs988002138 0.00004
NM_000545.8(HNF1A):c.150C>T (p.Cys50=) rs193922583 0.00004
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr) rs201095611 0.00004
NM_000545.8(HNF1A):c.713+13G>A rs755961371 0.00004
NM_000545.8(HNF1A):c.962G>A (p.Arg321His) rs751761766 0.00004
NM_000642.3(AGL):c.*670A>G rs886044927 0.00004
NM_000642.3(AGL):c.1049T>C (p.Met350Thr) rs761122742 0.00004
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala) rs754606378 0.00004
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969 0.00004
NM_000642.3(AGL):c.2357C>T (p.Thr786Met) rs147586981 0.00004
NM_000642.3(AGL):c.3258A>T (p.Ala1086=) rs779468425 0.00004
NM_000642.3(AGL):c.325G>T (p.Val109Leu) rs369068676 0.00004
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) rs749445010 0.00004
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser) rs200676705 0.00004
NM_001041.4(SI):c.1887+8A>C rs372410648 0.00004
NM_001041.4(SI):c.2891C>T (p.Thr964Met) rs369115304 0.00004
NM_001041.4(SI):c.3521A>T (p.Asp1174Val) rs750344760 0.00004
NM_001041.4(SI):c.373+1G>A rs772671498 0.00004
NM_001041.4(SI):c.4630C>T (p.Arg1544Cys) rs767701775 0.00004
NM_001041.4(SI):c.4705G>A (p.Ala1569Thr) rs369134336 0.00004
NM_001041.4(SI):c.807+8A>G rs759240554 0.00004
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val) rs782480303 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe) rs538938823 0.00004
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu) rs141105181 0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys) rs369459316 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001370658.1(BTD):c.49G>A (p.Val17Met) rs772369148 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001715.3(BLK):c.465C>G (p.Thr155=) rs375035401 0.00004
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_001807.6(CEL):c.874G>T (p.Val292Leu) rs868527871 0.00004
NM_002076.4(GNS):c.415A>G (p.Met139Val) rs142588770 0.00004
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) rs367919986 0.00004
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) rs397516741 0.00004
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu) rs769378984 0.00004
NM_002500.5(NEUROD1):c.175G>C (p.Glu59Gln) rs553756272 0.00004
NM_002500.5(NEUROD1):c.741C>A (p.His247Gln) rs201542440 0.00004
NM_002500.5(NEUROD1):c.746A>G (p.Tyr249Cys) rs780520468 0.00004
NM_002500.5(NEUROD1):c.86C>G (p.Ser29Cys) rs138850469 0.00004
NM_002500.5(NEUROD1):c.973C>A (p.Arg325Ser) rs368727469 0.00004
NM_003041.4(SLC5A2):c.1280+1G>A rs554372141 0.00004
NM_003041.4(SLC5A2):c.1816C>T (p.Leu606Phe) rs200862764 0.00004
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00004
NM_005327.7(HADH):c.262-2A>G rs138521550 0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467 0.00004
NM_005609.4(PYGM):c.1075C>T (p.Arg359Trp) rs761807664 0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209 0.00004
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln) rs758175735 0.00004
NM_005609.4(PYGM):c.1905G>A (p.Pro635=) rs759582306 0.00004
NM_005609.4(PYGM):c.2267C>T (p.Pro756Leu) rs777736319 0.00004
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys) rs757292296 0.00004
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00004
NM_005609.4(PYGM):c.929G>A (p.Arg310His) rs759130375 0.00004
NM_005908.4(MANBA):c.1131G>C (p.Gln377His) rs762175890 0.00004
NM_005908.4(MANBA):c.1430A>G (p.Tyr477Cys) rs200133664 0.00004
NM_012434.5(SLC17A5):c.1375G>A (p.Val459Met) rs555461560 0.00004
NM_012434.5(SLC17A5):c.704C>T (p.Thr235Ile) rs540645365 0.00004
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu) rs145669999 0.00004
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu) rs368637364 0.00004
NM_016203.4(PRKAG2):c.617C>T (p.Pro206Leu) rs182084936 0.00004
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val) rs149896778 0.00004
NM_138413.4(HOGA1):c.448C>T (p.Leu150Phe) rs745919223 0.00004
NM_138413.4(HOGA1):c.538G>A (p.Val180Met) rs114177505 0.00004
NM_138413.4(HOGA1):c.720C>T (p.Cys240=) rs183301169 0.00004
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu) rs368276974 0.00004
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764 0.00004
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro) rs780342162 0.00004
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln) rs371124358 0.00004
NM_213606.4(SLC16A12):c.253G>A (p.Ala85Thr) rs551632763 0.00004
NM_213606.4(SLC16A12):c.407C>T (p.Thr136Met) rs190323395 0.00004
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg) rs180177173 0.00003
NM_000030.3(AGXT):c.423+12G>A rs574091775 0.00003
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239 0.00003
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000035.4(ALDOB):c.128G>A (p.Arg43His) rs780442649 0.00003
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00003
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 0.00003
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00003
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482 0.00003
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp) rs776704385 0.00003
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00003
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln) rs528010457 0.00003
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser) rs752735168 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2331G>A (p.Thr777=) rs375311693 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) rs951742543 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.426C>A (p.Ser142Arg) rs762255493 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.686G>A (p.Arg229His) rs776509432 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693 0.00003
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00003
NM_000155.4(GALT):c.777G>A (p.Arg259=) rs111033761 0.00003
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00003
NM_000162.5(GCK):c.142G>A (p.Glu48Lys) rs759514960 0.00003
NM_000162.5(GCK):c.301G>A (p.Val101Met) rs762922697 0.00003
NM_000162.5(GCK):c.646G>A (p.Glu216Lys) rs778550411 0.00003
NM_000181.4(GUSB):c.1796C>T (p.Thr599Met) rs765983374 0.00003
NM_000181.4(GUSB):c.57C>T (p.Cys19=) rs573989102 0.00003
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00003
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) rs1421520718 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967 0.00003
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00003
NM_000203.5(IDUA):c.340C>A (p.Leu114Met) rs372934646 0.00003
NM_000209.4(PDX1):c.719C>G (p.Pro240Arg) rs753881947 0.00003
NM_000209.4(PDX1):c.820G>T (p.Val274Phe) rs930365498 0.00003
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00003
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln) rs376545731 0.00003
NM_000291.4(PGK1):c.736A>G (p.Lys246Glu) rs144399762 0.00003
NM_000308.4(CTSA):c.-17G>A rs372800409 0.00003
NM_000308.4(CTSA):c.497del (p.Glu166fs) rs1159382283 0.00003
NM_000308.4(CTSA):c.967G>A (p.Asp323Asn) rs778145197 0.00003
NM_000340.2(SLC2A2):c.109-19A>G rs182772346 0.00003
NM_000340.2(SLC2A2):c.529G>A (p.Gly177Ser) rs144822218 0.00003
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter) rs202166715 0.00003
NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln) rs200352654 0.00003
NM_000343.4(SLC5A1):c.475T>C (p.Ser159Pro) rs933026071 0.00003
NM_000352.6(ABCC8):c.1069G>A (p.Val357Ile) rs771392416 0.00003
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296 0.00003
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692 0.00003
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser) rs191697443 0.00003
NM_000352.6(ABCC8):c.2630G>A (p.Arg877Gln) rs549910824 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_000352.6(ABCC8):c.2960C>T (p.Ser987Phe) rs750240747 0.00003
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) rs766068851 0.00003
NM_000352.6(ABCC8):c.3308G>A (p.Arg1103Gln) rs765913448 0.00003
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met) rs769818698 0.00003
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) rs587783169 0.00003
NM_000352.6(ABCC8):c.3775G>A (p.Val1259Met) rs745948796 0.00003
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val) rs368450282 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676 0.00003
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His) rs1272388614 0.00003
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=) rs771106160 0.00003
NM_000352.6(ABCC8):c.480C>T (p.His160=) rs769858502 0.00003
NM_000352.6(ABCC8):c.603G>A (p.Pro201=) rs765113879 0.00003
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp) rs778892038 0.00003
NM_000352.6(ABCC8):c.822+3C>T rs370697909 0.00003
NM_000352.6(ABCC8):c.823C>T (p.Arg275Trp) rs201907204 0.00003
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys) rs751228166 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351 0.00003
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) rs72555370 0.00003
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881 0.00003
NM_000434.4(NEU1):c.1247G>C (p.Ter416Ser) rs763212486 0.00003
NM_000458.4(HNF1B):c.1033A>G (p.Asn345Asp) rs755951130 0.00003
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe) rs747110790 0.00003
NM_000458.4(HNF1B):c.953A>G (p.Tyr318Cys) rs752340487 0.00003
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val) rs141171091 0.00003
NM_000512.5(GALNS):c.304G>A (p.Ala102Thr) rs372585484 0.00003
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter) rs200374326 0.00003
NM_000512.5(GALNS):c.772G>A (p.Val258Ile) rs779257235 0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881 0.00003
NM_000525.4(KCNJ11):c.47G>A (p.Arg16His) rs770609243 0.00003
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His) rs750778014 0.00003
NM_000525.4(KCNJ11):c.655G>T (p.Val219Leu) rs371633969 0.00003
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile) rs149667199 0.00003
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000545.8(HNF1A):c.1107+6T>C rs771536348 0.00003
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys) rs371544082 0.00003
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) rs373180062 0.00003
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val) rs143753579 0.00003
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met) rs150513055 0.00003
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile) rs371759652 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_000642.3(AGL):c.1432G>A (p.Val478Ile) rs527819721 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly) rs374531404 0.00003
NM_000642.3(AGL):c.2681+1G>A rs201201443 0.00003
NM_000642.3(AGL):c.3437C>T (p.Ala1146Val) rs867496787 0.00003
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser) rs769812980 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000642.3(AGL):c.966G>A (p.Arg322=) rs199905460 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001041.4(SI):c.1301G>A (p.Arg434Gln) rs777219527 0.00003
NM_001041.4(SI):c.1391T>C (p.Ile464Thr) rs781165527 0.00003
NM_001041.4(SI):c.1762C>T (p.Arg588Cys) rs201583834 0.00003
NM_001041.4(SI):c.1837G>T (p.Glu613Ter) rs201055347 0.00003
NM_001041.4(SI):c.186A>G (p.Lys62=) rs368169891 0.00003
NM_001041.4(SI):c.1943G>A (p.Arg648Lys) rs375458342 0.00003
NM_001041.4(SI):c.1969C>T (p.Pro657Ser) rs140611221 0.00003
NM_001041.4(SI):c.2159+11C>T rs761959886 0.00003
NM_001041.4(SI):c.2566-11A>G rs747570138 0.00003
NM_001041.4(SI):c.3211C>G (p.Pro1071Ala) rs768100667 0.00003
NM_001041.4(SI):c.3254+14T>G rs938714371 0.00003
NM_001041.4(SI):c.375A>G (p.Gly125=) rs960922254 0.00003
NM_001041.4(SI):c.3955G>A (p.Val1319Ile) rs376972966 0.00003
NM_001041.4(SI):c.3977C>T (p.Thr1326Ile) rs1334719838 0.00003
NM_001041.4(SI):c.4028T>C (p.Ile1343Thr) rs779805310 0.00003
NM_001041.4(SI):c.417T>G (p.Phe139Leu) rs758407768 0.00003
NM_001041.4(SI):c.453A>G (p.Gln151=) rs374104171 0.00003
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter) rs200328403 0.00003
NM_001041.4(SI):c.4958A>G (p.Asn1653Ser) rs370421935 0.00003
NM_001041.4(SI):c.695G>A (p.Arg232His) rs747345955 0.00003
NM_001041.4(SI):c.877G>A (p.Gly293Ser) rs756366998 0.00003
NM_001160372.4(TRAPPC9):c.3013C>A (p.Gln1005Lys) rs913893905 0.00003
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His) rs782500443 0.00003
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe) rs750732128 0.00003
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His) rs377180238 0.00003
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=) rs782326705 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00003
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230 0.00003
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser) rs538159086 0.00003
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn) rs140014588 0.00003
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs) rs1004027979 0.00003
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg) rs371116229 0.00003
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) rs200337373 0.00003
NM_001715.3(BLK):c.1089G>A (p.Ala363=) rs55836779 0.00003
NM_001715.3(BLK):c.27G>A (p.Pro9=) rs536630306 0.00003
NM_001715.3(BLK):c.67T>C (p.Trp23Arg) rs574731221 0.00003
NM_001807.6(CEL):c.400G>A (p.Gly134Ser) rs377284693 0.00003
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys) rs730880497 0.00003
NM_002294.3(LAMP2):c.65-20A>T rs773064698 0.00003
NM_002500.5(NEUROD1):c.1050C>G (p.Leu350=) rs778703927 0.00003
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys) rs113993984 0.00003
NM_003041.4(SLC5A2):c.1603T>G (p.Phe535Val) rs199521654 0.00003
NM_003041.4(SLC5A2):c.1646C>T (p.Ala549Val) rs375773920 0.00003
NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala) rs753477563 0.00003
NM_003041.4(SLC5A2):c.26C>T (p.Ser9Leu) rs564249983 0.00003
NM_003041.4(SLC5A2):c.407G>A (p.Arg136His) rs564929531 0.00003
NM_003041.4(SLC5A2):c.758G>A (p.Ser253Asn) rs368706190 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_003597.5(KLF11):c.1396A>T (p.Ser466Cys) rs757875185 0.00003
NM_003597.5(KLF11):c.431T>C (p.Val144Ala) rs753049849 0.00003
NM_003619.4(PRSS12):c.874C>T (p.Arg292Trp) rs746877243 0.00003
NM_004563.4(PCK2):c.424C>T (p.Arg142Ter) rs746104381 0.00003
NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe) rs755207439 0.00003
NM_005566.4(LDHA):c.137A>T (p.Asp46Val) rs201460924 0.00003
NM_005566.4(LDHA):c.52A>G (p.Thr18Ala) rs199585928 0.00003
NM_005566.4(LDHA):c.810G>A (p.Val270=) rs187005834 0.00003
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044 0.00003
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662 0.00003
NM_005609.4(PYGM):c.1580A>G (p.Asp527Gly) rs775496411 0.00003
NM_005609.4(PYGM):c.2104G>A (p.Glu702Lys) rs775556000 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_005609.4(PYGM):c.389C>T (p.Ala130Val) rs200430286 0.00003
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 0.00003
NM_005609.4(PYGM):c.593C>T (p.Thr198Met) rs762354482 0.00003
NM_005609.4(PYGM):c.64G>A (p.Val22Met) rs140731551 0.00003
NM_005609.4(PYGM):c.833G>A (p.Arg278His) rs775556109 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_005908.4(MANBA):c.1704+1G>T rs767174204 0.00003
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00003
NM_012203.2(GRHPR):c.745G>A (p.Val249Ile) rs769568097 0.00003
NM_012203.2(GRHPR):c.85T>C (p.Cys29Arg) rs749935481 0.00003
NM_012203.2(GRHPR):c.905G>A (p.Arg302His) rs180177323 0.00003
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val) rs374771372 0.00003
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157 0.00003
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro) rs758230758 0.00003
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=) rs767950372 0.00003
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln) rs145006140 0.00003
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter) rs528583612 0.00003
NM_138413.4(HOGA1):c.269T>A (p.Leu90His) rs373226228 0.00003
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter) rs796052086 0.00003
NM_138413.4(HOGA1):c.812G>A (p.Arg271His) rs750974539 0.00003
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys) rs149150736 0.00003
NM_138413.4(HOGA1):c.953G>A (p.Arg318His) rs201347931 0.00003
NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser) rs374892647 0.00003
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=) rs751892618 0.00003
NM_175914.5(HNF4A):c.1064-18G>A rs773235761 0.00003
NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile) rs377151067 0.00003
NM_175914.5(HNF4A):c.1185G>A (p.Met395Ile) rs550287415 0.00003
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val) rs774111430 0.00003
NM_175914.5(HNF4A):c.657C>T (p.Asp219=) rs376586083 0.00003
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys) rs748714111 0.00003
NM_213606.4(SLC16A12):c.1398G>A (p.Met466Ile) rs769057139 0.00003
NM_213606.4(SLC16A12):c.512G>A (p.Arg171Gln) rs141521467 0.00003
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157 0.00002
NM_000030.3(AGXT):c.1130C>T (p.Thr377Met) rs765649468 0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) rs121908530 0.00002
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238 0.00002
NM_000030.3(AGXT):c.846+5A>G rs200916936 0.00002
NM_000046.5(ARSB):c.1143-1G>C rs431905495 0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000046.5(ARSB):c.305G>A (p.Arg102His) rs759356342 0.00002
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter) rs1255777033 0.00002
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter) rs118204450 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483 0.00002
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) rs794727837 0.00002
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln) rs748788550 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) rs121907942 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395 0.00002
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) rs774307734 0.00002
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser) rs776111131 0.00002
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) rs148412962 0.00002
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser) rs745378120 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.446C>T (p.Thr149Met) rs750628023 0.00002
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551 0.00002
NM_000152.5(GAA):c.857C>T (p.Thr286Met) rs375310352 0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000162.5(GCK):c.343A>G (p.Met115Val) rs771677681 0.00002
NM_000162.5(GCK):c.394G>A (p.Asp132Asn) rs762419802 0.00002
NM_000162.5(GCK):c.483+3G>A rs1311596702 0.00002
NM_000162.5(GCK):c.784G>A (p.Asp262Asn) rs779460424 0.00002
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000188.3(HK1):c.949G>A (p.Gly317Ser) rs202028638 0.00002
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925 0.00002
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00002
NM_000199.5(SGSH):c.250-2A>G rs745319635 0.00002
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) rs104894642 0.00002
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys) rs950667822 0.00002
NM_000207.3(INS):c.266G>A (p.Arg89His) rs28933985 0.00002
NM_000208.4(INSR):c.2121C>T (p.Gly707=) rs753257847 0.00002
NM_000209.4(PDX1):c.841G>C (p.Glu281Gln) rs1357043267 0.00002
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala) rs1380564366 0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000291.4(PGK1):c.441A>G (p.Ile147Met) rs375971289 0.00002
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala) rs782119990 0.00002
NM_000291.4(PGK1):c.929G>A (p.Gly310Asp) rs201238498 0.00002
NM_000291.4(PGK1):c.988C>T (p.Arg330Trp) rs782819714 0.00002
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584 0.00002
NM_000308.4(CTSA):c.843T>A (p.Cys281Ter) rs771878314 0.00002
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742 0.00002
NM_000340.2(SLC2A2):c.1570G>A (p.Val524Met) rs758607933 0.00002
NM_000340.2(SLC2A2):c.371+19T>C rs752870085 0.00002
NM_000340.2(SLC2A2):c.866T>G (p.Val289Gly) rs780873643 0.00002
NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=) rs201834537 0.00002
NM_000343.4(SLC5A1):c.1400T>C (p.Ile467Thr) rs199872460 0.00002
NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys) rs767673239 0.00002
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg) rs777391124 0.00002
NM_000343.4(SLC5A1):c.697A>G (p.Met233Val) rs200026740 0.00002
NM_000352.6(ABCC8):c.148+13A>C rs773823246 0.00002
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320 0.00002
NM_000352.6(ABCC8):c.1800C>T (p.Thr600=) rs371181016 0.00002
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550 0.00002
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg) rs764349043 0.00002
NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe) rs773899806 0.00002
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp) rs201682634 0.00002
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys) rs1331539684 0.00002
NM_000352.6(ABCC8):c.2434G>A (p.Asp812Asn) rs146916682 0.00002
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=) rs779736828 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.2634C>T (p.Asp878=) rs754554936 0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile) rs771882862 0.00002
NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His) rs1057523131 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu) rs377686759 0.00002
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=) rs1345535328 0.00002
NM_000352.6(ABCC8):c.443T>C (p.Ile148Thr) rs767409085 0.00002
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu) rs750165947 0.00002
NM_000352.6(ABCC8):c.702C>T (p.Asn234=) rs758289249 0.00002
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881 0.00002
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051 0.00002
NM_000404.4(GLB1):c.994G>A (p.Asp332Asn) rs781658798 0.00002
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser) rs982085453 0.00002
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu) rs193922483 0.00002
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly) rs375625110 0.00002
NM_000458.4(HNF1B):c.516C>T (p.Tyr172=) rs764561297 0.00002
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln) rs776195231 0.00002
NM_000458.4(HNF1B):c.721G>A (p.Ala241Thr) rs761415487 0.00002
NM_000512.5(GALNS):c.1157G>A (p.Arg386His) rs1221167717 0.00002
NM_000512.5(GALNS):c.1171A>G (p.Met391Val) rs398123429 0.00002
NM_000512.5(GALNS):c.1496C>T (p.Pro499Leu) rs542835085 0.00002
NM_000512.5(GALNS):c.651_652insG (p.Lys218fs) rs1468285336 0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.1096G>A (p.Gly366Arg) rs149141985 0.00002
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp) rs1001873841 0.00002
NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser) rs1554901851 0.00002
NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu) rs756424776 0.00002
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser) rs747721968 0.00002
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp) rs1261968643 0.00002
NM_000545.8(HNF1A):c.1504C>G (p.Leu502Val) rs924150546 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg) rs193922589 0.00002
NM_000545.8(HNF1A):c.1774T>C (p.Ser592Pro) rs1352126690 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000545.8(HNF1A):c.713+14C>T rs193922601 0.00002
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu) rs747958319 0.00002
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu) rs754306821 0.00002
NM_000642.3(AGL):c.1729A>G (p.Ile577Val) rs762529905 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_000642.3(AGL):c.3013T>G (p.Cys1005Gly) rs1245795149 0.00002
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys) rs768133891 0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val) rs199983136 0.00002
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) rs780517804 0.00002
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu) rs775072430 0.00002
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr) rs1464614105 0.00002
NM_001041.4(SI):c.1303C>T (p.Arg435Cys) rs370325800 0.00002
NM_001041.4(SI):c.178T>C (p.Ser60Pro) rs755487744 0.00002
NM_001041.4(SI):c.1995C>T (p.Asp665=) rs757380218 0.00002
NM_001041.4(SI):c.3293A>C (p.Gln1098Pro) rs121912611 0.00002
NM_001041.4(SI):c.3423+10A>G rs200899300 0.00002
NM_001041.4(SI):c.3888+12G>A rs766861562 0.00002
NM_001041.4(SI):c.4505A>G (p.Tyr1502Cys) rs1382587818 0.00002
NM_001041.4(SI):c.4575+2T>C rs754961413 0.00002
NM_001041.4(SI):c.5320G>A (p.Val1774Ile) rs771335037 0.00002
NM_001041.4(SI):c.653G>T (p.Gly218Val) rs775308282 0.00002
NM_001041.4(SI):c.788G>A (p.Arg263Gln) rs143135955 0.00002
NM_001041.4(SI):c.952G>A (p.Gly318Ser) rs749095854 0.00002
NM_001041.4(SI):c.969T>C (p.Phe323=) rs780057549 0.00002
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser) rs782255299 0.00002
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn) rs1035199340 0.00002
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr) rs781834870 0.00002
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp) rs376730573 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001366110.1(PAX4):c.134G>A (p.Arg45Gln) rs147279315 0.00002
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=) rs779629178 0.00002
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960 0.00002
NM_001807.6(CEL):c.895+2dup rs1027973097 0.00002
NM_002299.4(LCT):c.3535C>T (p.Gln1179Ter) rs749118441 0.00002
NM_002500.5(NEUROD1):c.357G>A (p.Ala119=) rs375774931 0.00002
NM_002637.4(PHKA1):c.1429C>T (p.Arg477Cys) rs1556296540 0.00002
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp) rs148410166 0.00002
NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro) rs750441217 0.00002
NM_003041.4(SLC5A2):c.389G>A (p.Arg130His) rs886051960 0.00002
NM_003041.4(SLC5A2):c.982A>G (p.Met328Val) rs779233034 0.00002
NM_003477.3(PDHX):c.520G>A (p.Glu174Lys) rs774065524 0.00002
NM_003597.5(KLF11):c.811A>C (p.Lys271Gln) rs368207952 0.00002
NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp) rs754920304 0.00002
NM_003619.4(PRSS12):c.2128dup (p.Gln710fs) rs757141803 0.00002
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338 0.00002
NM_005609.4(PYGM):c.1216G>A (p.Glu406Lys) rs781394907 0.00002
NM_005609.4(PYGM):c.1239+8C>T rs886048461 0.00002
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208 0.00002
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys) rs769805782 0.00002
NM_005609.4(PYGM):c.1545C>T (p.Asp515=) rs1229595545 0.00002
NM_005609.4(PYGM):c.178G>A (p.Val60Met) rs765962705 0.00002
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) rs114073621 0.00002
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg) rs768604948 0.00002
NM_005609.4(PYGM):c.2107G>A (p.Glu703Lys) rs984250045 0.00002
NM_005609.4(PYGM):c.345+2T>A rs1219299972 0.00002
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys) rs753533515 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_005908.4(MANBA):c.2158-2A>G rs772852668 0.00002
NM_005908.4(MANBA):c.550-1G>A rs760404534 0.00002
NM_012203.2(GRHPR):c.108G>A (p.Ser36=) rs377072887 0.00002
NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys) rs370733771 0.00002
NM_012203.2(GRHPR):c.526G>A (p.Gly176Ser) rs377374419 0.00002
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) rs180177316 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_012203.2(GRHPR):c.808G>A (p.Val270Met) rs765478360 0.00002
NM_012434.5(SLC17A5):c.1056A>C (p.Leu352Phe) rs985998169 0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_012434.5(SLC17A5):c.760A>G (p.Lys254Glu) rs142050507 0.00002
NM_014704.4(CEP104):c.895C>T (p.Arg299Ter) rs778850368 0.00002
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp) rs200392688 0.00002
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn) rs752256415 0.00002
NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr) rs763397227 0.00002
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg) rs778171847 0.00002
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr) rs758795356 0.00002
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492 0.00002
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met) rs377050184 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser) rs1063239 0.00002
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met) rs199796094 0.00002
NM_175914.5(HNF4A):c.841A>G (p.Ser281Gly) rs201777208 0.00002
NC_000011.10:g.17476966G>C rs1395224084 0.00001
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421 0.00001
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer) rs1736926873 0.00001
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427 0.00001
NM_000027.4(AGA):c.776A>G (p.Asn259Ser) rs1306999394 0.00001
NM_000027.4(AGA):c.940+1G>T rs386833437 0.00001
NM_000030.3(AGXT):c.1078C>T (p.Arg360Trp) rs758493460 0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161 0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246 0.00001
NM_000030.3(AGXT):c.1174C>T (p.Leu392=) rs180177167 0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) rs180177184 0.00001
NM_000030.3(AGXT):c.265G>A (p.Ala89Thr) rs369184209 0.00001
NM_000030.3(AGXT):c.286C>G (p.Pro96Ala) rs1334695460 0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408 0.00001
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195 0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210 0.00001
NM_000030.3(AGXT):c.375G>C (p.Pro125=) rs754716643 0.00001
NM_000030.3(AGXT):c.497T>C (p.Leu166Pro) rs180177230 0.00001
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu) rs536205988 0.00001
NM_000030.3(AGXT):c.596-10C>T rs890462970 0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840 0.00001
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) rs180177246 0.00001
NM_000030.3(AGXT):c.660C>T (p.Ile220=) rs780078312 0.00001
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile) rs754037121 0.00001
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) rs372482918 0.00001
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) rs786204545 0.00001
NM_000030.3(AGXT):c.777-1G>C rs180177267 0.00001
NM_000030.3(AGXT):c.846+1G>T rs180177281 0.00001
NM_000030.3(AGXT):c.942+1G>A rs180177297 0.00001
NM_000030.3(AGXT):c.981C>T (p.Pro327=) rs760409952 0.00001
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428 0.00001
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039 0.00001
NM_000035.4(ALDOB):c.179G>A (p.Arg60Gln) rs141267935 0.00001
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr) rs1270747182 0.00001
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val) rs755508323 0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323 0.00001
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) rs1299207831 0.00001
NM_000046.5(ARSB):c.275C>T (p.Thr92Met) rs751010538 0.00001
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102 0.00001
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219 0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988 0.00001
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788 0.00001
NM_000108.5(DLD):c.684+1G>T rs780025714 0.00001
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter) rs997047045 0.00001
NM_000147.5(FUCA1):c.661del (p.Ser221fs) rs774846977 0.00001
NM_000151.4(G6PC1):c.108C>T (p.Ile36=) rs148461633 0.00001
NM_000151.4(G6PC1):c.175A>G (p.Ile59Val) rs774215572 0.00001
NM_000151.4(G6PC1):c.215A>G (p.Asn72Ser) rs753502076 0.00001
NM_000151.4(G6PC1):c.231-1G>A rs1555559279 0.00001
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr) rs777552825 0.00001
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln) rs750470654 0.00001
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229 0.00001
NM_000151.4(G6PC1):c.723C>T (p.Ala241=) rs762967975 0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485 0.00001
NM_000151.4(G6PC1):c.804C>T (p.Leu268=) rs377077333 0.00001
NM_000151.4(G6PC1):c.822T>C (p.Ala274=) rs761361643 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609 0.00001
NM_000152.5(GAA):c.1076-1G>C rs1555600050 0.00001
NM_000152.5(GAA):c.1076-3C>T rs1220435321 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys) rs963719602 0.00001
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395 0.00001
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320 0.00001
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp) rs772730706 0.00001
NM_000152.5(GAA):c.1326+20G>A rs774138443 0.00001
NM_000152.5(GAA):c.1327-2A>G rs1410829147 0.00001
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn) rs2039191738 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile) rs768500880 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala) rs886043976 0.00001
NM_000152.5(GAA):c.1437+15C>T rs2143867420 0.00001
NM_000152.5(GAA):c.1551+12C>A rs937342824 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381 0.00001
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu) rs1039935633 0.00001
NM_000152.5(GAA):c.1637-11G>A rs557695694 0.00001
NM_000152.5(GAA):c.1639G>A (p.Val547Met) rs751102729 0.00001
NM_000152.5(GAA):c.1643T>C (p.Val548Ala) rs754686630 0.00001
NM_000152.5(GAA):c.1754+1G>A rs886043399 0.00001
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) rs770021831 0.00001
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317 0.00001
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) rs1235035841 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) rs1030961946 0.00001
NM_000152.5(GAA):c.2041-13G>A rs1450561353 0.00001
NM_000152.5(GAA):c.2043C>A (p.Pro681=) rs764174168 0.00001
NM_000152.5(GAA):c.206A>G (p.Gln69Arg) rs767191385 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.217G>A (p.Gly73Ser) rs760644219 0.00001
NM_000152.5(GAA):c.2189+1G>T rs1209887739 0.00001
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg) rs763612880 0.00001
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn) rs755272974 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) rs771259598 0.00001
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) rs369532274 0.00001
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513 0.00001
NM_000152.5(GAA):c.2619C>T (p.Tyr873=) rs1555603132 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 0.00001
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882 0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484 0.00001
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu) rs1343332597 0.00001
NM_000152.5(GAA):c.316C>T (p.Arg106Cys) rs915675670 0.00001
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414 0.00001
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) rs754195673 0.00001
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00001
NM_000152.5(GAA):c.461G>A (p.Arg154His) rs781124934 0.00001
NM_000152.5(GAA):c.514A>G (p.Met172Val) rs1307823755 0.00001
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) rs762439362 0.00001
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) rs771258854 0.00001
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) rs760655446 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.683G>A (p.Gly228Asp) rs1470881018 0.00001
NM_000152.5(GAA):c.743T>C (p.Leu248Pro) rs1443844938 0.00001
NM_000152.5(GAA):c.783C>T (p.Ala261=) rs757356178 0.00001
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg) rs1214866139 0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653 0.00001
NM_000154.2(GALK1):c.611+1G>T rs982043960 0.00001
NM_000154.2(GALK1):c.793+1G>T rs767790909 0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572 0.00001
NM_000155.4(GALT):c.1034C>A (p.Ala345Asp) rs111033815 0.00001
NM_000155.4(GALT):c.241G>C (p.Ala81Pro) rs111033665 0.00001
NM_000155.4(GALT):c.329-2A>C rs111033667 0.00001
NM_000155.4(GALT):c.368G>A (p.Arg123Gln) rs111033675 0.00001
NM_000155.4(GALT):c.396C>A (p.His132Gln) rs367543256 0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695 0.00001
NM_000155.4(GALT):c.562C>T (p.Gln188Ter) rs398123182 0.00001
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736 0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763 0.00001
NM_000155.4(GALT):c.821-7A>G rs767337193 0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783 0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790 0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802 0.00001
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys) rs886058900 0.00001
NM_000158.4(GBE1):c.1803+2T>C rs539203557 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn) rs1209123501 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000162.5(GCK):c.107G>A (p.Arg36Gln) rs193922261 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.270G>A (p.Lys90=) rs571528578 0.00001
NM_000162.5(GCK):c.415A>T (p.Met139Leu) rs368137186 0.00001
NM_000162.5(GCK):c.46-3C>T rs1413094138 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.609G>A (p.Val203=) rs776703291 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.716A>G (p.Gln239Arg) rs764146649 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) rs398123234 0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173 0.00001
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) rs1434169374 0.00001
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter) rs1210475838 0.00001
NM_000181.4(GUSB):c.1820G>C (p.Gly607Ala) rs1250112198 0.00001
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) rs121918176 0.00001
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) rs121918184 0.00001
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter) rs1053785648 0.00001
NM_000181.4(GUSB):c.499C>T (p.Arg167Ter) rs769769379 0.00001
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) rs121918174 0.00001
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter) rs764866250 0.00001
NM_000199.5(SGSH):c.1052C>T (p.Ala351Val) rs139075692 0.00001
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter) rs1459579613 0.00001
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) rs1424242431 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn) rs1064795109 0.00001
NM_000199.5(SGSH):c.1453G>A (p.Gly485Ser) rs779083605 0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868 0.00001
NM_000199.5(SGSH):c.376dup (p.Val126fs) rs1555621971 0.00001
NM_000199.5(SGSH):c.391G>A (p.Val131Met) rs370636303 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) rs762903007 0.00001
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.1190-2A>T rs994902207 0.00001
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr) rs752725918 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566 0.00001
NM_000203.5(IDUA):c.1828+1G>C rs919151683 0.00001
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347 0.00001
NM_000203.5(IDUA):c.1938_1947dup (p.Pro650fs) rs1292032609 0.00001
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000203.5(IDUA):c.386-2A>G rs777295041 0.00001
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys) rs763375487 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000203.5(IDUA):c.90C>G (p.His30Gln) rs553425887 0.00001
NM_000207.3(INS):c.*59A>G rs397515519 0.00001
NM_000207.3(INS):c.1A>G (p.Met1Val) rs757124361 0.00001
NM_000207.3(INS):c.25C>T (p.Pro9Ser) rs372122432 0.00001
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396 0.00001
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln) rs121913148 0.00001
NM_000208.4(INSR):c.3158G>A (p.Arg1053His) rs748109926 0.00001
NM_000209.4(PDX1):c.216C>T (p.Pro72=) rs193922353 0.00001
NM_000209.4(PDX1):c.463C>A (p.Arg155Ser) rs773643850 0.00001
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) rs193922360 0.00001
NM_000209.4(PDX1):c.98C>A (p.Pro33His) rs767363575 0.00001
NM_000262.3(NAGA):c.157C>T (p.Gln53Ter) rs775099024 0.00001
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp) rs771151036 0.00001
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys) rs1183634153 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009 0.00001
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789 0.00001
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) rs780527821 0.00001
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) rs1215582852 0.00001
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys) rs199729746 0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478 0.00001
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys) rs2092909477 0.00001
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln) rs1323850779 0.00001
NM_000263.4(NAGLU):c.607C>T (p.Arg203Ter) rs1279412522 0.00001
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu) rs118204025 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter) rs2498573232 0.00001
NM_000289.6(PFKM):c.1876_1880+2del rs2498640077 0.00001
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) rs138893744 0.00001
NM_000291.4(PGK1):c.40G>C (p.Val14Leu) rs782483245 0.00001
NM_000291.4(PGK1):c.488A>G (p.Asn163Ser) rs185071030 0.00001
NM_000291.4(PGK1):c.545C>T (p.Pro182Leu) rs377001714 0.00001
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022 0.00001
NM_000293.3(PHKB):c.76+2T>C rs1303617854 0.00001
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter) rs375063162 0.00001
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445 0.00001
NM_000294.3(PHKG2):c.925C>T (p.Arg309Trp) rs760257918 0.00001
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter) rs560414449 0.00001
NM_000298.6(PKLR):c.1269G>A (p.Ala423=) rs774652817 0.00001
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter) rs200565348 0.00001
NM_000340.2(SLC2A2):c.1142T>A (p.Ile381Asn) rs750782646 0.00001
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg) rs760200790 0.00001
NM_000340.2(SLC2A2):c.188G>C (p.Ser63Thr) rs1373290524 0.00001
NM_000340.2(SLC2A2):c.195T>A (p.Asp65Glu) rs1217666649 0.00001
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr) rs1293130515 0.00001
NM_000340.2(SLC2A2):c.683G>A (p.Arg228Gln) rs1560035364 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000343.4(SLC5A1):c.1120A>G (p.Met374Val) rs1397555319 0.00001
NM_000343.4(SLC5A1):c.1127A>G (p.Asn376Ser) rs779179648 0.00001
NM_000343.4(SLC5A1):c.1276G>A (p.Gly426Arg) rs1304151494 0.00001
NM_000343.4(SLC5A1):c.1301T>C (p.Ile434Thr) rs202090647 0.00001
NM_000343.4(SLC5A1):c.1404G>A (p.Ala468=) rs767459349 0.00001
NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser) rs945722283 0.00001
NM_000343.4(SLC5A1):c.1672C>T (p.Arg558Cys) rs754586981 0.00001
NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val) rs1277952619 0.00001
NM_000343.4(SLC5A1):c.200G>A (p.Trp67Ter) rs1203557575 0.00001
NM_000343.4(SLC5A1):c.30C>T (p.Thr10=) rs750528703 0.00001
NM_000343.4(SLC5A1):c.404G>A (p.Arg135Gln) rs373203939 0.00001
NM_000343.4(SLC5A1):c.43C>T (p.Arg15Trp) rs33915717 0.00001
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=) rs200276021 0.00001
NM_000343.4(SLC5A1):c.770C>T (p.Thr257Ile) rs777779839 0.00001
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) rs779502629 0.00001
NM_000343.4(SLC5A1):c.886-10T>C rs201709042 0.00001
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp) rs1336341879 0.00001
NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=) rs776713811 0.00001
NM_000352.6(ABCC8):c.1176+2T>C rs750586210 0.00001
NM_000352.6(ABCC8):c.1177-1G>A rs1167993548 0.00001
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe) rs542947894 0.00001
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263 0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His) rs760062120 0.00001
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val) rs780283224 0.00001
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro) rs1554933168 0.00001
NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val) rs773345085 0.00001
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984 0.00001
NM_000352.6(ABCC8):c.1581G>A (p.Arg527=) rs750360514 0.00001
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397 0.00001
NM_000352.6(ABCC8):c.1630+1G>T rs773306994 0.00001
NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe) rs1362268812 0.00001
NM_000352.6(ABCC8):c.1687G>A (p.Val563Ile) rs1554926621 0.00001
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569 0.00001
NM_000352.6(ABCC8):c.1819G>A (p.Val607Met) rs377405677 0.00001
NM_000352.6(ABCC8):c.1942C>T (p.Arg648Cys) rs373175144 0.00001
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val) rs149400972 0.00001
NM_000352.6(ABCC8):c.2030G>A (p.Cys677Tyr) rs770262664 0.00001
NM_000352.6(ABCC8):c.2191C>G (p.Gln731Glu) rs779017346 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2226T>C (p.Leu742=) rs757507467 0.00001
NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg) rs757961130 0.00001
NM_000352.6(ABCC8):c.2305G>A (p.Val769Met) rs767419912 0.00001
NM_000352.6(ABCC8):c.2403C>A (p.Val801=) rs148863748 0.00001
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342 0.00001
NM_000352.6(ABCC8):c.255G>A (p.Leu85=) rs1323334420 0.00001
NM_000352.6(ABCC8):c.2694+1G>A rs774574576 0.00001
NM_000352.6(ABCC8):c.2751G>A (p.Gln917=) rs769982482 0.00001
NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys) rs748585974 0.00001
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln) rs745591375 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000352.6(ABCC8):c.2916G>A (p.Glu972=) rs1954592292 0.00001
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00001
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys) rs1254230359 0.00001
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=) rs1387302006 0.00001
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn) rs767123465 0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315 0.00001
NM_000352.6(ABCC8):c.3400-1G>A rs576684889 0.00001
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) rs797045209 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr) rs1320499455 0.00001
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe) rs1278920115 0.00001
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter) rs1057516281 0.00001
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys) rs781617345 0.00001
NM_000352.6(ABCC8):c.3868-1G>A rs766431403 0.00001
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser) rs763104338 0.00001
NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser) rs745417115 0.00001
NM_000352.6(ABCC8):c.3988+2T>C rs745349258 0.00001
NM_000352.6(ABCC8):c.4060G>A (p.Asp1354Asn) rs1199684247 0.00001
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673 0.00001
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser) rs773448052 0.00001
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys) rs776610373 0.00001
NM_000352.6(ABCC8):c.4207A>G (p.Ile1403Val) rs913334458 0.00001
NM_000352.6(ABCC8):c.4228G>A (p.Ala1410Thr) rs975338030 0.00001
NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=) rs965734923 0.00001
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val) rs748831440 0.00001
NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile) rs755577144 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly) rs374703754 0.00001
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met) rs769989185 0.00001
NM_000352.6(ABCC8):c.4569G>A (p.Val1523=) rs1953753838 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000352.6(ABCC8):c.4657C>T (p.Arg1553Trp) rs763809892 0.00001
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys) rs756823374 0.00001
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202 0.00001
NM_000352.6(ABCC8):c.660C>T (p.Pro220=) rs773643362 0.00001
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280 0.00001
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser) rs1462559571 0.00001
NM_000352.6(ABCC8):c.822+7G>A rs765890511 0.00001
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020 0.00001
NM_000352.6(ABCC8):c.894C>A (p.Arg298=) rs375094504 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00001
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372 0.00001
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys) rs748345527 0.00001
NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter) rs2125469895 0.00001
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00001
NM_000404.4(GLB1):c.1438A>G (p.Met480Val) rs1280400930 0.00001
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254 0.00001
NM_000404.4(GLB1):c.1480-2A>G rs587776526 0.00001
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter) rs758168173 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) rs72555393 0.00001
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe) rs1699791081 0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233 0.00001
NM_000404.4(GLB1):c.699del (p.Gln234fs) rs1452318343 0.00001
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232 0.00001
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg) rs368568171 0.00001
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr) rs759270956 0.00001
NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile) rs1199229728 0.00001
NM_000458.4(HNF1B):c.191C>G (p.Thr64Ser) rs750176807 0.00001
NM_000458.4(HNF1B):c.231C>G (p.Asp77Glu) rs760448993 0.00001
NM_000458.4(HNF1B):c.305A>C (p.Glu102Ala) rs982165538 0.00001
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe) rs1285239018 0.00001
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg) rs1321074352 0.00001
NM_000458.4(HNF1B):c.66C>A (p.Thr22=) rs906719754 0.00001
NM_000458.4(HNF1B):c.78G>T (p.Leu26=) rs757790704 0.00001
NM_000458.4(HNF1B):c.988C>T (p.Leu330Phe) rs763078496 0.00001
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 0.00001
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val) rs1401175486 0.00001
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116 0.00001
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter) rs398123439 0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu) rs772413313 0.00001
NM_000512.5(GALNS):c.638C>T (p.Ala213Val) rs770239604 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln) rs1199639828 0.00001
NM_000512.5(GALNS):c.769G>A (p.Ala257Thr) rs773283163 0.00001
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser) rs975409254 0.00001
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser) rs764070268 0.00001
NM_000512.5(GALNS):c.911G>T (p.Gly304Val) rs758439379 0.00001
NM_000512.5(GALNS):c.952A>T (p.Met318Leu) rs537013895 0.00001
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997 0.00001
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678 0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His) rs745379486 0.00001
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu) rs114613745 0.00001
NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter) rs879253757 0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274 0.00001
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His) rs1479483693 0.00001
NM_000525.4(KCNJ11):c.411G>A (p.Met137Ile) rs371977895 0.00001
NM_000525.4(KCNJ11):c.450C>T (p.Ile150=) rs761588360 0.00001
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met) rs587783668 0.00001
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His) rs1266231295 0.00001
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr) rs1393796559 0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg) rs104894248 0.00001
NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val) rs754683593 0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) rs780957825 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_000528.4(MAN2B1):c.1026+2T>G rs369099686 0.00001
NM_000528.4(MAN2B1):c.1063A>C (p.Thr355Pro) rs864621992 0.00001
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856 0.00001
NM_000528.4(MAN2B1):c.1309A>G (p.Asn437Asp) rs370036738 0.00001
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591 0.00001
NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly) rs781046464 0.00001
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys) rs199700264 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser) rs864621991 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 0.00001
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys) rs765088432 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000545.8(HNF1A):c.1030G>A (p.Val344Met) rs767616383 0.00001
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr) rs1403526456 0.00001
NM_000545.8(HNF1A):c.1309+16T>C rs1877124452 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 0.00001
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu) rs764483607 0.00001
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu) rs1391743259 0.00001
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn) rs577078110 0.00001
NM_000545.8(HNF1A):c.1537A>T (p.Thr513Ser) rs753702603 0.00001
NM_000545.8(HNF1A):c.153C>T (p.Gly51=) rs761779651 0.00001
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser) rs200639058 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) rs759717253 0.00001
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala) rs984428675 0.00001
NM_000545.8(HNF1A):c.1769T>C (p.Val590Ala) rs928744634 0.00001
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr) rs200120574 0.00001
NM_000545.8(HNF1A):c.181C>T (p.Pro61Ser) rs1251482432 0.00001
NM_000545.8(HNF1A):c.1824C>G (p.Ser608Arg) rs1877445147 0.00001
NM_000545.8(HNF1A):c.257T>A (p.Leu86His) rs200442958 0.00001
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys) rs774996577 0.00001
NM_000545.8(HNF1A):c.354G>A (p.Met118Ile) rs764191958 0.00001
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=) rs1876675633 0.00001
NM_000545.8(HNF1A):c.542G>C (p.Gly181Ala) rs773315874 0.00001
NM_000545.8(HNF1A):c.685C>A (p.Arg229=) rs769086289 0.00001
NM_000545.8(HNF1A):c.780G>A (p.Thr260=) rs749633685 0.00001
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr) rs765829022 0.00001
NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr) rs555681479 0.00001
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp) rs757574765 0.00001
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val) rs369764257 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly) rs1045745115 0.00001
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu) rs758882822 0.00001
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) rs765367405 0.00001
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr) rs372501843 0.00001
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser) rs773274876 0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870 0.00001
NM_000642.3(AGL):c.2309-2A>G rs1253347170 0.00001
NM_000642.3(AGL):c.248T>G (p.Leu83Arg) rs560703902 0.00001
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln) rs776599112 0.00001
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419 0.00001
NM_000642.3(AGL):c.276del (p.Gln92fs) rs1057517243 0.00001
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp) rs370787356 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.3164C>G (p.Ser1055Cys) rs749163043 0.00001
NM_000642.3(AGL):c.3259+1G>A rs1394576194 0.00001
NM_000642.3(AGL):c.3836+4G>A rs1488570554 0.00001
NM_000642.3(AGL):c.4313A>G (p.Asn1438Ser) rs766592371 0.00001
NM_000642.3(AGL):c.4379G>A (p.Arg1460His) rs546855663 0.00001
NM_000642.3(AGL):c.595C>T (p.Gln199Ter) rs780694207 0.00001
NM_000642.3(AGL):c.887T>G (p.Leu296Arg) rs748142986 0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter) rs145362161 0.00001
NM_000642.3(AGL):c.996C>A (p.His332Gln) rs780811320 0.00001
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp) rs764909409 0.00001
NM_001008216.2(GALE):c.668T>C (p.Leu223Pro) rs1457875051 0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860 0.00001
NM_001008216.2(GALE):c.796-1G>T rs779828095 0.00001
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp) rs137853861 0.00001
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn) rs371922891 0.00001
NM_001040716.2(PC):c.2024G>A (p.Arg675His) rs375528540 0.00001
NM_001040716.2(PC):c.3034A>G (p.Met1012Val) rs1030212351 0.00001
NM_001040716.2(PC):c.633+2T>C rs763433647 0.00001
NM_001041.4(SI):c.1057C>A (p.Leu353Ile) rs539049352 0.00001
NM_001041.4(SI):c.1169A>G (p.Asp390Gly) rs1481268075 0.00001
NM_001041.4(SI):c.1217A>C (p.Asn406Thr) rs777261367 0.00001
NM_001041.4(SI):c.126T>G (p.Ser42Arg) rs768538979 0.00001
NM_001041.4(SI):c.1356G>A (p.Val452=) rs1453717899 0.00001
NM_001041.4(SI):c.1526T>C (p.Val509Ala) rs551453053 0.00001
NM_001041.4(SI):c.1669G>A (p.Asp557Asn) rs1185540606 0.00001
NM_001041.4(SI):c.1897G>A (p.Asp633Asn) rs753216085 0.00001
NM_001041.4(SI):c.2005-11C>T rs1487909793 0.00001
NM_001041.4(SI):c.2338A>G (p.Met780Val) rs770724135 0.00001
NM_001041.4(SI):c.2455G>A (p.Ala819Thr) rs542969966 0.00001
NM_001041.4(SI):c.2479A>G (p.Lys827Glu) rs1712533082 0.00001
NM_001041.4(SI):c.2798A>G (p.Gln933Arg) rs773762538 0.00001
NM_001041.4(SI):c.2862G>A (p.Lys954=) rs377552984 0.00001
NM_001041.4(SI):c.2894G>A (p.Gly965Asp) rs144419320 0.00001
NM_001041.4(SI):c.2900C>T (p.Ser967Phe) rs1431852303 0.00001
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys) rs756776020 0.00001
NM_001041.4(SI):c.3056G>A (p.Arg1019His) rs562524905 0.00001
NM_001041.4(SI):c.315G>T (p.Trp105Cys) rs138564183 0.00001
NM_001041.4(SI):c.3229C>T (p.Arg1077Ter) rs1000661675 0.00001
NM_001041.4(SI):c.3236G>T (p.Arg1079Ile) rs1307836828 0.00001
NM_001041.4(SI):c.3359C>T (p.Thr1120Ile) rs140725570 0.00001
NM_001041.4(SI):c.3404C>T (p.Thr1135Ile) rs1412604560 0.00001
NM_001041.4(SI):c.3423+3A>G rs766943944 0.00001
NM_001041.4(SI):c.3475G>A (p.Glu1159Lys) rs966189337 0.00001
NM_001041.4(SI):c.3521-1G>T rs757893762 0.00001
NM_001041.4(SI):c.3532C>T (p.Gln1178Ter) rs898055093 0.00001
NM_001041.4(SI):c.3538A>G (p.Thr1180Ala) rs753519683 0.00001
NM_001041.4(SI):c.3562G>A (p.Val1188Ile) rs372654793 0.00001
NM_001041.4(SI):c.3616A>G (p.Thr1206Ala) rs763245932 0.00001
NM_001041.4(SI):c.3663T>C (p.Tyr1221=) rs767992819 0.00001
NM_001041.4(SI):c.3843T>G (p.Phe1281Leu) rs778183835 0.00001
NM_001041.4(SI):c.3896C>A (p.Ala1299Glu) rs1559990008 0.00001
NM_001041.4(SI):c.4087C>T (p.Pro1363Ser) rs1576882468 0.00001
NM_001041.4(SI):c.4199G>A (p.Ser1400Asn) rs753033212 0.00001
NM_001041.4(SI):c.4396C>A (p.Pro1466Thr) rs796683088 0.00001
NM_001041.4(SI):c.4469G>T (p.Ser1490Ile) rs376437234 0.00001
NM_001041.4(SI):c.4543A>G (p.Met1515Val) rs1301172097 0.00001
NM_001041.4(SI):c.5248-2A>C rs1298467427 0.00001
NM_001041.4(SI):c.5266A>G (p.Ile1756Val) rs535971512 0.00001
NM_001041.4(SI):c.5267T>C (p.Ile1756Thr) rs751083701 0.00001
NM_001041.4(SI):c.580G>T (p.Val194Phe) rs371768147 0.00001
NM_001041.4(SI):c.832C>T (p.Gln278Ter) rs754468827 0.00001
NM_001041.4(SI):c.917T>G (p.Ile306Ser) rs369903847 0.00001
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter) rs267607136 0.00001
NM_001160372.4(TRAPPC9):c.3217C>T (p.His1073Tyr) rs1459705932 0.00001
NM_001160372.4(TRAPPC9):c.3364G>A (p.Glu1122Lys) rs767963216 0.00001
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val) rs782753044 0.00001
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=) rs1043721709 0.00001
NM_001164277.2(SLC37A4):c.149-3C>T rs782625122 0.00001
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu) rs193302877 0.00001
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val) rs782083266 0.00001
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=) rs782292086 0.00001
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp) rs946341075 0.00001
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val) rs863224210 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met) rs754982680 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly) rs781834348 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001352514.2(HLCS):c.1289del (p.Ser430fs) rs898964693 0.00001
NM_001352514.2(HLCS):c.1621-2A>G rs750728042 0.00001
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter) rs1342457304 0.00001
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00001
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231 0.00001
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala) rs764148793 0.00001
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter) rs1466111134 0.00001
NM_001360016.2(G6PD):c.407G>A (p.Arg136His) rs782205676 0.00001
NM_001366110.1(PAX4):c.179G>A (p.Arg60His) rs370095957 0.00001
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln) rs587780414 0.00001
NM_001366110.1(PAX4):c.771+6C>T rs377152445 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402 0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs) rs397514420 0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364 0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser) rs397514376 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869 0.00001
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter) rs1303877451 0.00001
NM_001715.3(BLK):c.1142T>C (p.Leu381Ser) rs142803179 0.00001
NM_001715.3(BLK):c.1252G>A (p.Val418Met) rs373565757 0.00001
NM_001715.3(BLK):c.1371C>T (p.Pro457=) rs1356289485 0.00001
NM_001715.3(BLK):c.164A>G (p.His55Arg) rs202053568 0.00001
NM_001807.6(CEL):c.1624T>C (p.Trp542Arg) rs1441466735 0.00001
NM_001807.6(CEL):c.2165C>T (p.Ala722Val) rs774058715 0.00001
NM_001807.6(CEL):c.883G>T (p.Ala295Ser) rs765533068 0.00001
NM_002076.4(GNS):c.355del (p.Ser119fs) rs749187018 0.00001
NM_002294.3(LAMP2):c.*3276C>T rs1043524915 0.00001
NM_002294.3(LAMP2):c.556+13T>A rs1380200946 0.00001
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn) rs1271107737 0.00001
NM_002299.4(LCT):c.280G>A (p.Ala94Thr) rs139740186 0.00001
NM_002500.5(NEUROD1):c.1043C>T (p.Ala348Val) rs771797718 0.00001
NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp) rs774325551 0.00001
NM_002500.5(NEUROD1):c.112A>G (p.Lys38Glu) rs1013787986 0.00001
NM_002500.5(NEUROD1):c.36C>T (p.Gly12=) rs753690348 0.00001
NM_002500.5(NEUROD1):c.37G>A (p.Glu13Lys) rs763871039 0.00001
NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val) rs369575066 0.00001
NM_002500.5(NEUROD1):c.554C>T (p.Ala185Val) rs375030401 0.00001
NM_002500.5(NEUROD1):c.61A>G (p.Ser21Gly) rs898716677 0.00001
NM_002500.5(NEUROD1):c.761A>C (p.Glu254Ala) rs767219230 0.00001
NM_002500.5(NEUROD1):c.766T>C (p.Phe256Leu) rs556602572 0.00001
NM_002500.5(NEUROD1):c.79C>T (p.Leu27Phe) rs766645933 0.00001
NM_002500.5(NEUROD1):c.814C>A (p.Pro272Thr) rs1365446719 0.00001
NM_002500.5(NEUROD1):c.931G>A (p.Ala311Thr) rs1475260624 0.00001
NM_002500.5(NEUROD1):c.93C>A (p.Asp31Glu) rs1688642769 0.00001
NM_002637.4(PHKA1):c.389G>A (p.Trp130Ter) rs1556327000 0.00001
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser) rs138888959 0.00001
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His) rs779993355 0.00001
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val) rs766548165 0.00001
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys) rs907643541 0.00001
NM_003041.4(SLC5A2):c.1399G>A (p.Val467Met) rs200184876 0.00001
NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr) rs775638719 0.00001
NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn) rs762905275 0.00001
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs) rs770214617 0.00001
NM_003041.4(SLC5A2):c.305C>T (p.Ala102Val) rs755955053 0.00001
NM_003041.4(SLC5A2):c.484G>A (p.Gly162Arg) rs767198666 0.00001
NM_003041.4(SLC5A2):c.503A>G (p.Gln168Arg) rs1294044448 0.00001
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter) rs184887106 0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830 0.00001
NM_003384.3(VRK1):c.6del (p.Arg3fs) rs780789145 0.00001
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys) rs141703130 0.00001
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser) rs1064797191 0.00001
NM_003477.3(PDHX):c.1034A>T (p.Asp345Val) rs556425857 0.00001
NM_003477.3(PDHX):c.419_420del (p.His140fs) rs756985515 0.00001
NM_003597.5(KLF11):c.1049C>T (p.Pro350Leu) rs775364750 0.00001
NM_003597.5(KLF11):c.1117C>G (p.Pro373Ala) rs1327726598 0.00001
NM_003597.5(KLF11):c.1486G>A (p.Ala496Thr) rs868399686 0.00001
NM_003597.5(KLF11):c.259A>G (p.Met87Val) rs757905542 0.00001
NM_004130.4(GYG1):c.137C>G (p.Ser46Cys) rs142784073 0.00001
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter) rs727502869 0.00001
NM_005566.4(LDHA):c.410C>A (p.Ser137Ter) rs777988373 0.00001
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg) rs1394188143 0.00001
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040 0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1239+1G>A rs759657964 0.00001
NM_005609.4(PYGM):c.1241G>A (p.Arg414Gln) rs750184482 0.00001
NM_005609.4(PYGM):c.1247C>T (p.Ala416Val) rs767347157 0.00001
NM_005609.4(PYGM):c.1283G>A (p.Arg428His) rs767293977 0.00001
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr) rs199728804 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.1403+2dup rs1489442842 0.00001
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln) rs1592410540 0.00001
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) rs397514631 0.00001
NM_005609.4(PYGM):c.1598G>A (p.Arg533Gln) rs1194180857 0.00001
NM_005609.4(PYGM):c.1600G>T (p.Asp534Tyr) rs746031643 0.00001
NM_005609.4(PYGM):c.161T>A (p.Phe54Tyr) rs375646075 0.00001
NM_005609.4(PYGM):c.1687C>T (p.Leu563Phe) rs746276802 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005609.4(PYGM):c.1768+2T>G rs747513238 0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259 0.00001
NM_005609.4(PYGM):c.1835C>T (p.Pro612Leu) rs746099017 0.00001
NM_005609.4(PYGM):c.183C>T (p.Arg61=) rs1182278359 0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253 0.00001
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256 0.00001
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val) rs1483102315 0.00001
NM_005609.4(PYGM):c.2204G>A (p.Arg735His) rs760277933 0.00001
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln) rs577589879 0.00001
NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro) rs1213033233 0.00001
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) rs370247862 0.00001
NM_005609.4(PYGM):c.338C>T (p.Thr113Ile) rs147571836 0.00001
NM_005609.4(PYGM):c.346-20T>G rs1025560272 0.00001
NM_005609.4(PYGM):c.346-5T>G rs1016613332 0.00001
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00001
NM_005609.4(PYGM):c.553C>T (p.Arg185Cys) rs749507354 0.00001
NM_005609.4(PYGM):c.704G>A (p.Arg235His) rs371247639 0.00001
NM_005609.4(PYGM):c.710A>G (p.Asn237Ser) rs771073706 0.00001
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys) rs779706675 0.00001
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val) rs199966543 0.00001
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter) rs780068572 0.00001
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln) rs759103361 0.00001
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer) rs752343321 0.00001
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter) rs1553948361 0.00001
NM_005908.4(MANBA):c.960+1G>A rs890870104 0.00001
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His) rs201815571 0.00001
NM_006516.4(SLC2A1):c.679+5G>A rs771386274 0.00001
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg) rs375853334 0.00001
NM_012203.2(GRHPR):c.181G>A (p.Asp61Asn) rs371660673 0.00001
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108 0.00001
NM_012203.2(GRHPR):c.404+5G>A rs757796926 0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) rs771019056 0.00001
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) rs180177312 0.00001
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys) rs760782027 0.00001
NM_012203.2(GRHPR):c.735-2del rs1257080057 0.00001
NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly) rs369698939 0.00001
NM_012203.2(GRHPR):c.865+1G>T rs771990662 0.00001
NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr) rs758049256 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) rs1331106064 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu) rs1214170788 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_012434.5(SLC17A5):c.590A>G (p.Lys197Arg) rs1769125401 0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs) rs1472109408 0.00001
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028 0.00001
NM_012434.5(SLC17A5):c.93C>T (p.Ala31=) rs1347154246 0.00001
NM_014704.4(CEP104):c.163C>T (p.Arg55Ter) rs757772764 0.00001
NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter) rs372048855 0.00001
NM_016042.4(EXOSC3):c.475-12A>G rs370087266 0.00001
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00001
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys) rs758756757 0.00001
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met) rs760879406 0.00001
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn) rs186114650 0.00001
NM_016203.4(PRKAG2):c.187-3C>T rs972389122 0.00001
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu) rs1041124171 0.00001
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg) rs779753891 0.00001
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala) rs775005432 0.00001
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter) rs146140738 0.00001
NM_018297.4(NGLY1):c.1A>G (p.Met1Val) rs772627507 0.00001
NM_018297.4(NGLY1):c.571C>T (p.Gln191Ter) rs376678889 0.00001
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter) rs200561967 0.00001
NM_018297.4(NGLY1):c.801T>C (p.Ser267=) rs199578758 0.00001
NM_018297.4(NGLY1):c.930C>T (p.Gly310=) rs745814294 0.00001
NM_031229.4(RBCK1):c.1465del (p.Thr489fs) rs2122348874 0.00001
NM_138413.4(HOGA1):c.238G>A (p.Glu80Lys) rs772441887 0.00001
NM_138413.4(HOGA1):c.283C>T (p.Arg95Cys) rs751366895 0.00001
NM_138413.4(HOGA1):c.294G>A (p.Gln98=) rs777208958 0.00001
NM_138413.4(HOGA1):c.329C>T (p.Ser110Phe) rs1307213959 0.00001
NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser) rs778696295 0.00001
NM_138413.4(HOGA1):c.407T>C (p.Val136Ala) rs776292240 0.00001
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935 0.00001
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln) rs796052090 0.00001
NM_138413.4(HOGA1):c.580G>A (p.Gly194Ser) rs763146679 0.00001
NM_138413.4(HOGA1):c.700+2T>G rs990830655 0.00001
NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile) rs756489804 0.00001
NM_138413.4(HOGA1):c.845G>A (p.Arg282His) rs779027672 0.00001
NM_138413.4(HOGA1):c.875T>C (p.Met292Thr) rs796052087 0.00001
NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser) rs777046879 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636 0.00001
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919 0.00001
NM_152419.3(HGSNAT):c.118+1G>A rs1324229618 0.00001
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser) rs538620581 0.00001
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs) rs771455190 0.00001
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152419.3(HGSNAT):c.372-2A>G rs483352896 0.00001
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) rs1563366896 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu) rs372933126 0.00001
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211 0.00001
NM_175914.5(HNF4A):c.106G>A (p.Ala36Thr) rs376906221 0.00001
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile) rs137853337 0.00001
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg) rs757897768 0.00001
NM_175914.5(HNF4A):c.1198C>T (p.Arg400Ter) rs1413742263 0.00001
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp) rs780813696 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln) rs149611886 0.00001
NM_175914.5(HNF4A):c.468G>A (p.Ala156=) rs758124162 0.00001
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys) rs771156648 0.00001
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp) rs1032164393 0.00001
NM_175914.5(HNF4A):c.609C>T (p.Gly203=) rs751231466 0.00001
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val) rs145542196 0.00001
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp) rs1259110384 0.00001
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile) rs753285226 0.00001
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) rs145902391 0.00001
NM_175914.5(HNF4A):c.862C>T (p.Arg288Trp) rs768263630 0.00001
NM_175914.5(HNF4A):c.911G>A (p.Arg304His) rs753027685 0.00001
NM_213606.4(SLC16A12):c.100G>A (p.Val34Ile) rs750848525 0.00001
NM_213606.4(SLC16A12):c.1022A>G (p.Asp341Gly) rs1254570734 0.00001
NM_213606.4(SLC16A12):c.122C>A (p.Ser41Tyr) rs1235291781 0.00001
NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp) rs758404955 0.00001
NM_213606.4(SLC16A12):c.758C>T (p.Ser253Phe) rs773706712 0.00001
GRCh37/hg19 3q26.1(chr3:164696665-164751252)
GRCh37/hg19 3q26.1(chr3:164714302-164716481)
NM_000027.4(AGA):c.1018G>T (p.Glu340Ter) rs1736641565
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.113del (p.Asn38fs)
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.131G>A (p.Trp44Ter)
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.367_371del (p.Thr123fs) rs1736928101
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.385_394+15del
NM_000027.4(AGA):c.389_390del (p.Glu130fs) rs2476870897
NM_000027.4(AGA):c.595_596del (p.Glu199fs) rs2476862496
NM_000027.4(AGA):c.80dup (p.Pro28fs)
NM_000027.4(AGA):c.904G>C (p.Gly302Arg) rs121964905
NM_000030.3(AGXT):c.1006G>A (p.Val336Ile)
NM_000030.3(AGXT):c.1015G>A (p.Val339Ile)
NM_000030.3(AGXT):c.1033A>G (p.Ile345Val)
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1065G>A (p.Thr355=) rs143488099
NM_000030.3(AGXT):c.1072-1G>A rs2528766258
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) rs180177160
NM_000030.3(AGXT):c.1124G>A (p.Arg375His)
NM_000030.3(AGXT):c.1144G>A (p.Ala382Thr)
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter) rs2528766716
NM_000030.3(AGXT):c.124G>A (p.Gly42Arg)
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.166-3C>G
NM_000030.3(AGXT):c.185A>C (p.Glu62Ala)
NM_000030.3(AGXT):c.187G>C (p.Gly63Arg) rs180177181
NM_000030.3(AGXT):c.194A>G (p.Gln65Arg)
NM_000030.3(AGXT):c.216C>G (p.Asn72Lys) rs202108064
NM_000030.3(AGXT):c.275A>G (p.Asn92Ser)
NM_000030.3(AGXT):c.27C>G (p.Thr9=) rs180177188
NM_000030.3(AGXT):c.284A>T (p.Glu95Val)
NM_000030.3(AGXT):c.28C>A (p.Pro10Thr)
NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn) rs180177194
NM_000030.3(AGXT):c.317G>A (p.Gly106Asp)
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala) rs375712696
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.324G>T (p.Trp108Cys) rs796052060
NM_000030.3(AGXT):c.327del (p.Gln110fs) rs180177200
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp) rs796052061
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) rs747043550
NM_000030.3(AGXT):c.368T>A (p.Val123Glu)
NM_000030.3(AGXT):c.391G>A (p.Gly131Arg)
NM_000030.3(AGXT):c.395G>A (p.Gly132Asp)
NM_000030.3(AGXT):c.418G>A (p.Glu140Lys)
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.437A>G (p.His146Arg)
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) rs180177221
NM_000030.3(AGXT):c.466G>T (p.Gly156Trp)
NM_000030.3(AGXT):c.467G>A (p.Gly156Glu)
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.483C>G (p.Gly161=) rs757583201
NM_000030.3(AGXT):c.4G>A (p.Ala2Thr)
NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn) rs180177233
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) rs180177236
NM_000030.3(AGXT):c.569_570dup (p.Thr191fs)
NM_000030.3(AGXT):c.572C>T (p.Thr191Ile)
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000030.3(AGXT):c.588C>A (p.Asp196Glu)
NM_000030.3(AGXT):c.595+2T>C
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu) rs180177248
NM_000030.3(AGXT):c.615G>A (p.Ser205=)
NM_000030.3(AGXT):c.637G>A (p.Ala213Thr) rs1200591457
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) rs180177252
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000030.3(AGXT):c.680+1G>C rs111996685
NM_000030.3(AGXT):c.681-1G>A rs112673831
NM_000030.3(AGXT):c.701A>G (p.Lys234Arg)
NM_000030.3(AGXT):c.719_721del (p.Phe240del) rs2528756027
NM_000030.3(AGXT):c.726G>A (p.Leu242=) rs2528756053
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.761A>C (p.Asp254Ala)
NM_000030.3(AGXT):c.777-2A>G rs796052068
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs) rs180177273
NM_000030.3(AGXT):c.825C>A (p.Ser275Arg)
NM_000030.3(AGXT):c.847-3C>T rs180177286
NM_000030.3(AGXT):c.85G>A (p.Gly29Ser)
NM_000030.3(AGXT):c.876C>T (p.Arg292=)
NM_000030.3(AGXT):c.931G>A (p.Val311Met)
NM_000030.3(AGXT):c.941C>T (p.Pro314Leu)
NM_000030.3(AGXT):c.942+3A>T
NM_000030.3(AGXT):c.943G>A (p.Ala315Thr)
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln) rs200317876
NM_000030.3(AGXT):c.950G>C (p.Arg317Pro)
NM_000030.3(AGXT):c.982G>A (p.Ala328Thr)
NM_000035.4(ALDOB):c.1000-1_1006delinsTG rs2118333206
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.133C>T (p.Gln45Ter)
NM_000035.4(ALDOB):c.197_198del (p.Val66fs)
NM_000035.4(ALDOB):c.21_34del (p.Leu8fs)
NM_000035.4(ALDOB):c.322A>T (p.Lys108Ter)
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.367del (p.Thr123fs)
NM_000035.4(ALDOB):c.379+1G>A rs138121153
NM_000035.4(ALDOB):c.380-1G>A rs1554702666
NM_000035.4(ALDOB):c.43del (p.Glu15fs) rs1831209087
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter) rs1831149748
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu) rs139442303
NM_000035.4(ALDOB):c.531_532del (p.Ile177fs)
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter) rs2118366288
NM_000035.4(ALDOB):c.673del (p.Glu225fs) rs758133069
NM_000035.4(ALDOB):c.799+2T>C rs2118345193
NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
NM_000035.4(ALDOB):c.992G>A (p.Arg331Gln) rs371526091
NM_000046.5(ARSB):c.1054G>A (p.Asp352Asn)
NM_000046.5(ARSB):c.1079T>C (p.Leu360Pro) rs1554079284
NM_000046.5(ARSB):c.107_129del (p.Gly36fs)
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1143-2A>T
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.1268C>A (p.Ser423Ter)
NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg) rs1057520739
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro) rs774358117
NM_000046.5(ARSB):c.293T>G (p.Leu98Arg) rs1554032090
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.352_365dup (p.Pro123fs) rs2530607480
NM_000046.5(ARSB):c.389C>T (p.Pro130Leu) rs1435155976
NM_000046.5(ARSB):c.405del (p.Ala136fs)
NM_000046.5(ARSB):c.500-2A>G
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter) rs773460207
NM_000046.5(ARSB):c.791_798dup (p.Ala267fs)
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000108.5(DLD):c.1046+1G>T
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.1141dup (p.Ala381fs)
NM_000108.5(DLD):c.1237-2A>G
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.5(DLD):c.198+1G>T rs1554398193
NM_000108.5(DLD):c.1A>C (p.Met1Leu)
NM_000108.5(DLD):c.285_286del (p.His96fs) rs2535575866
NM_000108.5(DLD):c.39+1G>A rs111257462
NM_000108.5(DLD):c.573del (p.Gly192fs)
NM_000108.5(DLD):c.589G>T (p.Glu197Ter)
NM_000108.5(DLD):c.595dup (p.Thr199fs)
NM_000108.5(DLD):c.633del (p.Val212fs)
NM_000108.5(DLD):c.796C>T (p.Gln266Ter)
NM_000108.5(DLD):c.821dup (p.Leu274fs) rs751883130
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln) rs80358195
NM_000147.5(FUCA1):c.1161G>A (p.Trp387Ter)
NM_000147.5(FUCA1):c.360G>A (p.Trp120Ter)
NM_000147.5(FUCA1):c.418G>A (p.Glu140Lys)
NM_000147.5(FUCA1):c.524+1G>T
NM_000147.5(FUCA1):c.552dup (p.Leu185fs)
NM_000147.5(FUCA1):c.648C>A (p.Tyr216Ter) rs80358198
NM_000147.5(FUCA1):c.698G>A (p.Trp233Ter) rs1441298926
NM_000147.5(FUCA1):c.768+1G>T rs1639468949
NM_000147.5(FUCA1):c.7del (p.Ala3fs) rs1639669672
NM_000147.5(FUCA1):c.837T>A (p.Cys279Ter)
NM_000147.5(FUCA1):c.911G>A (p.Trp304Ter)
NM_000147.5(FUCA1):c.932_936del (p.Ala311fs)
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter) rs2056081719
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val) rs756944737
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.4(G6PC1):c.954C>T (p.Val318=) rs372612424
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
NM_000152.5(GAA):c.*313C>G rs926145648
NM_000152.5(GAA):c.-32-2A>G rs1445232530
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1075+1G>A
NM_000152.5(GAA):c.1075+1G>T rs2039146031
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr) rs377233099
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_000152.5(GAA):c.1291_1299del (p.Leu431_Gln433del)
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.138C>G (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) rs748893499
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) rs2039212985
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys) rs1473805095
NM_000152.5(GAA):c.1551+1G>C rs770780848
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.156_157del (p.His53fs) rs1027029347
NM_000152.5(GAA):c.1579del (p.Arg527fs) rs2039222879
NM_000152.5(GAA):c.1589_1598del (p.Glu530fs)
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met) rs1598582152
NM_000152.5(GAA):c.1637-10C>T rs2143881993
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg) rs746401921
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1755-1G>A rs2039261208
NM_000152.5(GAA):c.1781G>A (p.Arg594His) rs775450536
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu) rs763772240
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu) rs377126280
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1888+1G>A rs776325453
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp) rs2143891559
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs) rs748829376
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys) rs536906561
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2045delinsCG (p.Gln682fs)
NM_000152.5(GAA):c.2047G>T (p.Glu683Ter)
NM_000152.5(GAA):c.2078dup (p.Ala694fs) rs730880372
NM_000152.5(GAA):c.2093C>T (p.Ala698Val) rs1001458871
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr) rs375681364
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser) rs375681364
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) rs143324027
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn) rs1381005435
NM_000152.5(GAA):c.2219_2220del (p.Val740fs) rs2039364779
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242del (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2289G>A (p.Val763=) rs767871949
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser) rs2039369551
NM_000152.5(GAA):c.2326C>T (p.Gln776Ter)
NM_000152.5(GAA):c.2330_2331+4dup rs762245732
NM_000152.5(GAA):c.2331+1G>A rs780655708
NM_000152.5(GAA):c.2332-16C>T rs2039383167
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.2338G>C (p.Val780Leu) rs1126690
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs) rs763048948
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro) rs374687883
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs) rs1057516704
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2553_2554delinsAT (p.Glu852Ter)
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2642_2643delinsC (p.Arg881fs)
NM_000152.5(GAA):c.2647-2A>G rs2510404041
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) rs201902338
NM_000152.5(GAA):c.370C>T (p.Gln124Ter)
NM_000152.5(GAA):c.393del (p.Ser132fs) rs1057517381
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.498_510del (p.Thr166_Leu167insTer)
NM_000152.5(GAA):c.4G>T (p.Gly2Ter) rs1567825175
NM_000152.5(GAA):c.545C>T (p.Thr182Met) rs200524747
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.569G>T (p.Arg190Leu) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.688G>C (p.Val230Leu) rs145866792
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.715_716del (p.Leu239fs)
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.74C>T (p.Ala25Val) rs768867363
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs) rs2039120342
NM_000152.5(GAA):c.844G>C (p.Asp282His) rs1264889089
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT rs1555599729
NM_000152.5(GAA):c.883C>A (p.His295Asn) rs751639773
NM_000152.5(GAA):c.956-3C>T rs1421879461
NM_000154.2(GALK1):c.1067T>C (p.Leu356Pro)
NM_000154.2(GALK1):c.166-5_175del
NM_000154.2(GALK1):c.364del (p.Leu122fs) rs2061596711
NM_000154.2(GALK1):c.381_400dup (p.Pro134fs)
NM_000154.2(GALK1):c.3G>T (p.Met1Ile)
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.710del (p.Pro237fs) rs773559496
NM_000154.2(GALK1):c.790del (p.Glu264fs)
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.898dup (p.Tyr300fs)
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.1018G>T (p.Glu340Ter) rs111033806
NM_000155.4(GALT):c.1117_1118del (p.Arg373fs) rs2492881242
NM_000155.4(GALT):c.134C>T (p.Ser45Leu) rs111033652
NM_000155.4(GALT):c.203A>G (p.His68Arg) rs193922247
NM_000155.4(GALT):c.286G>C (p.Asp96His)
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.508-1G>A
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.899G>A (p.Trp300Ter) rs1064794295
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000158.4(GBE1):c.1244C>G (p.Ser415Ter)
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly) rs137852888
NM_000158.4(GBE1):c.1618+3_1618+6del rs766366468
NM_000158.4(GBE1):c.1666A>T (p.Asn556Tyr) rs937683680
NM_000158.4(GBE1):c.1680C>G (p.Tyr560Ter) rs1559637815
NM_000158.4(GBE1):c.1771G>T (p.Glu591Ter)
NM_000158.4(GBE1):c.1782T>A (p.Tyr594Ter)
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter) rs772802187
NM_000158.4(GBE1):c.2027A>G (p.His676Arg)
NM_000158.4(GBE1):c.2052+1G>T rs2106809795
NM_000158.4(GBE1):c.288del (p.Gly97fs) rs1057517315
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter) rs2107114808
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter) rs1553690406
NM_000158.4(GBE1):c.429+1G>T
NM_000158.4(GBE1):c.466_470del (p.Arg156fs) rs2107074878
NM_000158.4(GBE1):c.854T>G (p.Leu285Ter) rs1704706313
NM_000158.4(GBE1):c.932_933del (p.Phe311fs)
NM_000158.4(GBE1):c.933dup (p.His312fs)
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000158.4(GBE1):c.993-2A>G rs1269375163
NM_000158.4(GBE1):c.995G>A (p.Trp332Ter)
NM_000162.5(GCK):c.*12G>A
NM_000162.5(GCK):c.1006T>A (p.Ser336Thr)
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1024A>T (p.Thr342Ser)
NM_000162.5(GCK):c.1045T>A (p.Tyr349Asn)
NM_000162.5(GCK):c.1058G>A (p.Ser353Asn)
NM_000162.5(GCK):c.1102C>T (p.Arg368Cys)
NM_000162.5(GCK):c.1142T>A (p.Met381Lys) rs193922266
NM_000162.5(GCK):c.1230C>T (p.Gly410=)
NM_000162.5(GCK):c.1234G>A (p.Val412Met) rs2484495767
NM_000162.5(GCK):c.1241A>T (p.Lys414Met)
NM_000162.5(GCK):c.1253+3G>T rs911506580
NM_000162.5(GCK):c.1253+5G>T
NM_000162.5(GCK):c.1253+6C>T
NM_000162.5(GCK):c.1274C>A (p.Ala425Asp)
NM_000162.5(GCK):c.127C>T (p.Arg43Cys) rs1486280029
NM_000162.5(GCK):c.12_13del (p.Asp4fs) rs1483208659
NM_000162.5(GCK):c.130G>A (p.Gly44Ser) rs267601516
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro) rs1131691416
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.1368del (p.Cys457fs) rs2484491553
NM_000162.5(GCK):c.184G>A (p.Val62Met) rs1064793998
NM_000162.5(GCK):c.237G>A (p.Leu79=)
NM_000162.5(GCK):c.28G>A (p.Ala10Thr) rs1265357992
NM_000162.5(GCK):c.315C>A (p.His105Gln)
NM_000162.5(GCK):c.364-14C>T
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.483+117T>C
NM_000162.5(GCK):c.483+13G>A
NM_000162.5(GCK):c.49G>C (p.Glu17Gln)
NM_000162.5(GCK):c.53A>G (p.Gln18Arg)
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.579+12C>G rs202001955
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.793G>A (p.Glu265Lys) rs104894011
NM_000162.5(GCK):c.863+1G>A rs1376796469
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000162.5(GCK):c.907C>A (p.Arg303=)
NM_000162.5(GCK):c.917T>G (p.Leu306Arg) rs193922337
NM_000162.5(GCK):c.954G>T (p.Gly318=)
NM_000162.5(GCK):c.988T>G (p.Phe330Val)
NM_000162.5(GCK):c.996_997delinsTT (p.Arg333Cys)
NM_000181.4(GUSB):c.1051C>T (p.His351Tyr)
NM_000181.4(GUSB):c.1244+2del
NM_000181.4(GUSB):c.12del (p.Ser5fs)
NM_000181.4(GUSB):c.1523A>G (p.Tyr508Cys)
NM_000181.4(GUSB):c.1526dup (p.His509fs)
NM_000181.4(GUSB):c.1623T>A (p.Tyr541Ter)
NM_000181.4(GUSB):c.1750_1762del (p.Glu584fs)
NM_000181.4(GUSB):c.1874_1877dup (p.Tyr626Ter)
NM_000181.4(GUSB):c.207G>A (p.Trp69Ter)
NM_000181.4(GUSB):c.289G>A (p.Gly97Ser)
NM_000181.4(GUSB):c.333G>A (p.Trp111Ter)
NM_000181.4(GUSB):c.380A>G (p.His127Arg) rs765699404
NM_000181.4(GUSB):c.397-2A>G
NM_000181.4(GUSB):c.58_70del (p.Ala20fs) rs1377855703
NM_000181.4(GUSB):c.91C>T (p.Gln31Ter) rs2484858214
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000199.5(SGSH):c.1153del (p.Arg385fs) rs2041615714
NM_000199.5(SGSH):c.120C>A (p.Tyr40Ter)
NM_000199.5(SGSH):c.1222_1225dup (p.Gln409fs)
NM_000199.5(SGSH):c.1414C>T (p.Gln472Ter)
NM_000199.5(SGSH):c.149_169del (p.Leu50_Ser57delinsArg)
NM_000199.5(SGSH):c.251A>G (p.His84Arg) rs2144755254
NM_000199.5(SGSH):c.449G>C (p.Arg150Pro)
NM_000199.5(SGSH):c.453del (p.Asn151fs) rs2510893832
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter) rs2041818115
NM_000199.5(SGSH):c.506+1G>A rs763063355
NM_000199.5(SGSH):c.658G>A (p.Val220Met) rs150508741
NM_000199.5(SGSH):c.670del (p.Tyr224fs) rs766980170
NM_000199.5(SGSH):c.69del (p.Asn24fs)
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) rs1455698449
NM_000199.5(SGSH):c.757del (p.Val253fs) rs760281672
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg) rs765361603
NM_000199.5(SGSH):c.89-2A>G rs1369704445
NM_000199.5(SGSH):c.909del (p.Lys303fs) rs775136193
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp) rs753934983
NM_000202.8(IDS):c.1025A>G (p.His342Arg)
NM_000202.8(IDS):c.1036G>A (p.Ala346Thr)
NM_000202.8(IDS):c.1403G>C (p.Arg468Pro) rs113993946
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs) rs2089304532
NM_000202.8(IDS):c.339dup (p.Gly114fs)
NM_000202.8(IDS):c.358C>T (p.Pro120Ser)
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000203.5(IDUA):c.-4_6dup (p.Pro3fs)
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) rs121965033
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr) rs780106243
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del) rs1230096882
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1088G>T (p.Arg363Leu) rs1416427527
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1130C>T (p.Pro377Leu)
NM_000203.5(IDUA):c.117_118del (p.Leu40fs)
NM_000203.5(IDUA):c.1190-10C>A rs1443642527
NM_000203.5(IDUA):c.1190-1del rs2534092221
NM_000203.5(IDUA):c.1264del (p.Ala422fs)
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
NM_000203.5(IDUA):c.1377del (p.Leu460fs)
NM_000203.5(IDUA):c.1395dup (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1402+1G>A rs398123254
NM_000203.5(IDUA):c.1477_1480dup (p.Val494fs)
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg) rs375819348
NM_000203.5(IDUA):c.152del (p.Gly51fs)
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe) rs1577543849
NM_000203.5(IDUA):c.164dup (p.Leu56fs) rs727503966
NM_000203.5(IDUA):c.1708G>C (p.Asp570His) rs1553917627
NM_000203.5(IDUA):c.1727+5G>A
NM_000203.5(IDUA):c.1743C>A (p.Tyr581Ter)
NM_000203.5(IDUA):c.1815dup (p.Val606fs) rs2153023210
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT rs2534102903
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter) rs1456090810
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter) rs886043347
NM_000203.5(IDUA):c.235_240delinsACCGTG (p.Ala79Thr)
NM_000203.5(IDUA):c.275G>A (p.Trp92Ter)
NM_000203.5(IDUA):c.299+1G>A
NM_000203.5(IDUA):c.2T>C (p.Met1Thr) rs753767675
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.494-2A>G
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys) rs992336192
NM_000203.5(IDUA):c.599_608del (p.Asn200fs)
NM_000203.5(IDUA):c.603C>G (p.Tyr201Ter) rs766574778
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.615_636delinsAACTACTACG (p.Cys205_Ala212delinsTer)
NM_000203.5(IDUA):c.623G>T (p.Gly208Val)
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000203.5(IDUA):c.826G>A (p.Glu276Lys) rs2534087208
NM_000203.5(IDUA):c.864del (p.Lys289fs)
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup) rs779762183
NM_000203.5(IDUA):c.94dup (p.Val32fs)
NM_000207.3(INS):c.-152C>A rs748749585
NM_000207.3(INS):c.-152C>G rs748749585
NM_000207.3(INS):c.-152C>T rs748749585
NM_000207.3(INS):c.157A>G (p.Lys53Glu)
NM_000207.3(INS):c.158A>C (p.Lys53Thr)
NM_000207.3(INS):c.170A>G (p.Glu57Gly)
NM_000207.3(INS):c.187+3G>A
NM_000207.3(INS):c.188-16C>A
NM_000207.3(INS):c.194A>T (p.Gln65Leu)
NM_000207.3(INS):c.200A>T (p.Glu67Val)
NM_000207.3(INS):c.208G>A (p.Gly70Arg)
NM_000207.3(INS):c.212G>T (p.Gly71Val)
NM_000207.3(INS):c.35C>T (p.Ala12Val)
NM_000207.3(INS):c.44C>A (p.Ala15Asp)
NM_000207.3(INS):c.67G>A (p.Ala23Thr) rs13306444
NM_000208.4(INSR):c.1266T>C (p.Ile422=)
NM_000208.4(INSR):c.2107G>A (p.Glu703Lys)
NM_000208.4(INSR):c.2408A>G (p.Asn803Ser)
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr) rs775854644
NM_000208.4(INSR):c.359T>C (p.Leu120Pro)
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000208.4(INSR):c.653-9_653-7delinsC rs1568470641
NM_000209.4(PDX1):c.101C>T (p.Ala34Val) rs750219172
NM_000209.4(PDX1):c.124C>A (p.Pro42Thr)
NM_000209.4(PDX1):c.146C>G (p.Pro49Arg)
NM_000209.4(PDX1):c.184C>A (p.Pro62Thr)
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.190G>A (p.Asp64Asn)
NM_000209.4(PDX1):c.272C>T (p.Ala91Val)
NM_000209.4(PDX1):c.280C>T (p.His94Tyr)
NM_000209.4(PDX1):c.286C>G (p.Pro96Ala)
NM_000209.4(PDX1):c.307G>A (p.Gly103Arg)
NM_000209.4(PDX1):c.312C>T (p.Ala104=) rs535722487
NM_000209.4(PDX1):c.338A>G (p.Asn113Ser)
NM_000209.4(PDX1):c.384C>G (p.His128Gln)
NM_000209.4(PDX1):c.390G>T (p.Trp130Cys)
NM_000209.4(PDX1):c.394G>A (p.Gly132Ser)
NM_000209.4(PDX1):c.411C>T (p.Gly137=)
NM_000209.4(PDX1):c.413C>T (p.Ala138Val)
NM_000209.4(PDX1):c.422C>A (p.Ala141Glu)
NM_000209.4(PDX1):c.506A>G (p.Lys169Arg)
NM_000209.4(PDX1):c.545T>C (p.Met182Thr)
NM_000209.4(PDX1):c.546G>A (p.Met182Ile)
NM_000209.4(PDX1):c.563G>C (p.Arg188Thr)
NM_000209.4(PDX1):c.667C>T (p.Pro223Ser)
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs) rs2500206807
NM_000209.4(PDX1):c.697G>A (p.Glu233Lys)
NM_000209.4(PDX1):c.716C>T (p.Pro239Leu)
NM_000209.4(PDX1):c.722del (p.Pro241fs)
NM_000209.4(PDX1):c.729_731delinsGCCCCG (p.Pro244_Gly245insArg)
NM_000209.4(PDX1):c.732dup (p.Gly245fs)
NM_000209.4(PDX1):c.766G>T (p.Ala256Ser)
NM_000209.4(PDX1):c.776del (p.Gly259fs)
NM_000209.4(PDX1):c.84C>G (p.Phe28Leu)
NM_000209.4(PDX1):c.92G>A (p.Ser31Asn) rs1449072088
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098
NM_000209.4(PDX1):c.97C>T (p.Pro33Ser) rs192902098
NM_000262.3(NAGA):c.1101+1G>A
NM_000262.3(NAGA):c.1113dup (p.Tyr372fs)
NM_000262.3(NAGA):c.567G>A (p.Trp189Ter)
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) rs779423223
NM_000262.3(NAGA):c.759+1_759+8del rs768761898
NM_000263.4(NAGLU):c.1018del (p.Ala340fs)
NM_000263.4(NAGLU):c.1022-2A>G rs2510658575
NM_000263.4(NAGLU):c.1043T>G (p.Leu348Arg) rs2092925480
NM_000263.4(NAGLU):c.113_131dup (p.Asp47fs)
NM_000263.4(NAGLU):c.1173dup (p.Thr392fs) rs2143108228
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys) rs777670507
NM_000263.4(NAGLU):c.1238del (p.Asn413fs) rs2510659172
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.1310C>T (p.Thr437Ile)
NM_000263.4(NAGLU):c.1335del (p.Glu446fs)
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) rs114625063
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.1705dup (p.Gln569fs)
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro) rs144238669
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) rs1555622488
NM_000263.4(NAGLU):c.1915delinsTT (p.Glu639fs) rs2510660651
NM_000263.4(NAGLU):c.192del (p.Tyr65fs) rs2092906340
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu) rs1341421909
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg) rs2092930339
NM_000263.4(NAGLU):c.204del (p.Gly69fs)
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs) rs2143116788
NM_000263.4(NAGLU):c.222_247del (p.Val75fs) rs1201516783
NM_000263.4(NAGLU):c.224_231dup (p.Arg78fs)
NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys) rs1276484671
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr) rs1013345784
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) rs758785463
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys) rs1352416909
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs) rs2092905845
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter) rs398123281
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000263.4(NAGLU):c.640del (p.Leu214fs)
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000263.4(NAGLU):c.764+1G>T
NM_000263.4(NAGLU):c.804G>A (p.Trp268Ter)
NM_000263.4(NAGLU):c.886del (p.Leu296fs) rs752131463
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys) rs1305299665
NM_000284.4(PDHA1):c.748C>A (p.Pro250Thr)
NM_000289.6(PFKM):c.1062+1G>A rs766042700
NM_000289.6(PFKM):c.1191+1del
NM_000289.6(PFKM):c.1412+1G>T rs1950563032
NM_000289.6(PFKM):c.1501-2del rs1410122696
NM_000289.6(PFKM):c.1509_1510del (p.Gly505fs)
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000289.6(PFKM):c.160-1G>C rs1282065754
NM_000289.6(PFKM):c.1607C>G (p.Ser536Ter)
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter) rs1392144132
NM_000289.6(PFKM):c.1905dup (p.Thr636fs)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.353del (p.Gly118fs)
NM_000289.6(PFKM):c.594-2_594del
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs) rs1343104321
NM_000289.6(PFKM):c.936+2T>G rs112163675
NM_000290.4(PGAM2):c.427G>A (p.Ala143Thr) rs775439724
NM_000291.4(PGK1):c.1133C>T (p.Thr378Ile)
NM_000291.4(PGK1):c.117-5T>G
NM_000291.4(PGK1):c.1196G>A (p.Ser399Asn) rs2078377909
NM_000291.4(PGK1):c.11C>T (p.Ser4Phe) rs2078257508
NM_000291.4(PGK1):c.1233G>C (p.Val411=)
NM_000291.4(PGK1):c.146T>A (p.Phe49Tyr) rs781875982
NM_000291.4(PGK1):c.211C>G (p.Pro71Ala) rs782378406
NM_000291.4(PGK1):c.273-10del
NM_000291.4(PGK1):c.280C>A (p.Leu94Met)
NM_000291.4(PGK1):c.287T>C (p.Leu96Ser)
NM_000291.4(PGK1):c.309A>C (p.Glu103Asp)
NM_000291.4(PGK1):c.344C>G (p.Ser115Cys)
NM_000291.4(PGK1):c.406T>C (p.Ser136Pro)
NM_000291.4(PGK1):c.409G>T (p.Gly137Trp)
NM_000291.4(PGK1):c.442G>C (p.Glu148Gln)
NM_000291.4(PGK1):c.444A>C (p.Glu148Asp)
NM_000291.4(PGK1):c.44A>G (p.Lys15Arg) rs2078257877
NM_000291.4(PGK1):c.506C>T (p.Ala169Val)
NM_000291.4(PGK1):c.521+8G>A
NM_000291.4(PGK1):c.62T>A (p.Met21Lys)
NM_000291.4(PGK1):c.665A>T (p.Gln222Leu)
NM_000291.4(PGK1):c.79G>A (p.Val27Ile) rs2078291613
NM_000291.4(PGK1):c.806T>G (p.Leu269Arg) rs2078365486
NM_000291.4(PGK1):c.832G>T (p.Val278Leu) rs199571497
NM_000291.4(PGK1):c.937-14C>T
NM_000291.4(PGK1):c.937-17dup rs782576397
NM_000291.4(PGK1):c.96C>A (p.Asn32Lys)
NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile) rs2147981456
NM_000293.3(PHKB):c.1175del (p.Leu391_Leu392insTer)
NM_000293.3(PHKB):c.1446del (p.Arg482fs)
NM_000293.3(PHKB):c.1514+2T>A
NM_000293.3(PHKB):c.167-6_170del
NM_000293.3(PHKB):c.1772_1780delinsATAGATAGATGACATA (p.Val591_Leu594delinsAspArgTer)
NM_000293.3(PHKB):c.1943del (p.Gly648fs)
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000293.3(PHKB):c.2304_2305del (p.Arg768fs)
NM_000293.3(PHKB):c.2336+2T>C
NM_000293.3(PHKB):c.2494C>T (p.Gln832Ter)
NM_000293.3(PHKB):c.514-1G>C
NM_000293.3(PHKB):c.514-2del
NM_000293.3(PHKB):c.570_576delinsAC (p.Gln191fs) rs2151651792
NM_000294.3(PHKG2):c.334_337del (p.Lys112fs) rs1567261757
NM_000294.3(PHKG2):c.976del (p.His326fs)
NM_000298.6(PKLR):c.1145G>A (p.Arg382Gln)
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000308.4(CTSA):c.1005del (p.Ala336fs) rs2515441206
NM_000308.4(CTSA):c.1019dup (p.Tyr340Ter) rs2515441270
NM_000308.4(CTSA):c.1105C>T (p.Gln369Ter) rs2515445641
NM_000308.4(CTSA):c.1359+2T>C
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del) rs72555383
NM_000308.4(CTSA):c.358-2A>G rs774528518
NM_000308.4(CTSA):c.360del (p.Ile120fs)
NM_000308.4(CTSA):c.445-2A>C
NM_000308.4(CTSA):c.625_626del (p.Ser209fs) rs1180450281
NM_000308.4(CTSA):c.637C>T (p.Gln213Ter)
NM_000308.4(CTSA):c.673_679del (p.His225fs)
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter) rs767712946
NM_000308.4(CTSA):c.833_834del (p.Tyr278fs) rs875989777
NM_000308.4(CTSA):c.948+1G>A rs2515440641
NM_000308.4(CTSA):c.990dup (p.Cys331fs) rs758642867
NM_000340.2(SLC2A2):c.1069-7G>T
NM_000340.2(SLC2A2):c.1083G>T (p.Glu361Asp)
NM_000340.2(SLC2A2):c.1111A>T (p.Ile371Phe)
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del) rs772999215
NM_000340.2(SLC2A2):c.1225A>T (p.Ser409Cys)
NM_000340.2(SLC2A2):c.1346T>C (p.Ile449Thr)
NM_000340.2(SLC2A2):c.1373C>T (p.Ala458Val) rs749710583
NM_000340.2(SLC2A2):c.1412G>C (p.Gly471Ala)
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys) rs1560031152
NM_000340.2(SLC2A2):c.1490C>T (p.Ala497Val) rs200160167
NM_000340.2(SLC2A2):c.1515dup (p.Ala506fs)
NM_000340.2(SLC2A2):c.1540G>A (p.Glu514Lys)
NM_000340.2(SLC2A2):c.1565A>G (p.Glu522Gly)
NM_000340.2(SLC2A2):c.1567A>T (p.Thr523Ser)
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs) rs1447936042
NM_000340.2(SLC2A2):c.182T>C (p.Ile61Thr)
NM_000340.2(SLC2A2):c.250G>T (p.Glu84Ter)
NM_000340.2(SLC2A2):c.2T>C (p.Met1Thr)
NM_000340.2(SLC2A2):c.332C>T (p.Ala111Val)
NM_000340.2(SLC2A2):c.385T>A (p.Leu129Ile)
NM_000340.2(SLC2A2):c.38C>G (p.Thr13Ser)
NM_000340.2(SLC2A2):c.419del (p.Leu140fs)
NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del) rs763620441
NM_000340.2(SLC2A2):c.474A>C (p.Arg158Ser) rs2473906384
NM_000340.2(SLC2A2):c.497-2A>G rs1318756243
NM_000340.2(SLC2A2):c.520A>G (p.Met174Val)
NM_000340.2(SLC2A2):c.567C>T (p.Gly189=)
NM_000340.2(SLC2A2):c.597C>T (p.Gly199=)
NM_000340.2(SLC2A2):c.613-1G>T
NM_000340.2(SLC2A2):c.670del (p.Leu224fs)
NM_000340.2(SLC2A2):c.706C>T (p.Leu236Phe)
NM_000340.2(SLC2A2):c.70T>G (p.Phe24Val)
NM_000340.2(SLC2A2):c.722A>G (p.Glu241Gly)
NM_000340.2(SLC2A2):c.743T>A (p.Ile248Asn)
NM_000340.2(SLC2A2):c.775+1del
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del) rs774721090
NM_000340.2(SLC2A2):c.910A>G (p.Ile304Val)
NM_000340.2(SLC2A2):c.936G>C (p.Val312=)
NM_000343.4(SLC5A1):c.1063T>A (p.Cys355Ser)
NM_000343.4(SLC5A1):c.109G>A (p.Val37Met)
NM_000343.4(SLC5A1):c.1129+3G>A
NM_000343.4(SLC5A1):c.1191C>T (p.Ile397=) rs1457860223
NM_000343.4(SLC5A1):c.1201G>A (p.Ala401Thr)
NM_000343.4(SLC5A1):c.1224C>T (p.Asp408=)
NM_000343.4(SLC5A1):c.1240C>T (p.Arg414Cys)
NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His) rs199573966
NM_000343.4(SLC5A1):c.1261G>C (p.Glu421Gln)
NM_000343.4(SLC5A1):c.136-1G>A rs267606230
NM_000343.4(SLC5A1):c.1403C>A (p.Ala468Glu) rs200406921
NM_000343.4(SLC5A1):c.1431G>A (p.Trp477Ter)
NM_000343.4(SLC5A1):c.1431G>T (p.Trp477Cys) rs200665892
NM_000343.4(SLC5A1):c.1449+15G>T
NM_000343.4(SLC5A1):c.1449A>G (p.Pro483=) rs752536347
NM_000343.4(SLC5A1):c.1665+3G>A
NM_000343.4(SLC5A1):c.1691G>A (p.Arg564His) rs1449988154
NM_000343.4(SLC5A1):c.1702G>C (p.Glu568Gln)
NM_000343.4(SLC5A1):c.1738A>G (p.Ile580Val)
NM_000343.4(SLC5A1):c.1751C>T (p.Pro584Leu)
NM_000343.4(SLC5A1):c.1772-11C>T
NM_000343.4(SLC5A1):c.1772-1G>A
NM_000343.4(SLC5A1):c.1772-6G>A rs201685531
NM_000343.4(SLC5A1):c.1787A>C (p.Glu596Ala)
NM_000343.4(SLC5A1):c.1801A>G (p.Ile601Val)
NM_000343.4(SLC5A1):c.1883T>C (p.Met628Thr)
NM_000343.4(SLC5A1):c.1915C>G (p.Pro639Ala) rs200684333
NM_000343.4(SLC5A1):c.1919T>C (p.Leu640Ser)
NM_000343.4(SLC5A1):c.194T>C (p.Met65Thr) rs201383366
NM_000343.4(SLC5A1):c.205_207+2delinsAA
NM_000343.4(SLC5A1):c.207G>A (p.Pro69=)
NM_000343.4(SLC5A1):c.286A>G (p.Ile96Val)
NM_000343.4(SLC5A1):c.293T>C (p.Ile98Thr)
NM_000343.4(SLC5A1):c.2T>C (p.Met1Thr)
NM_000343.4(SLC5A1):c.307T>G (p.Trp103Gly) rs2093974548
NM_000343.4(SLC5A1):c.313-7A>T
NM_000343.4(SLC5A1):c.323T>C (p.Leu108Ser) rs2517649710
NM_000343.4(SLC5A1):c.372+2_372+8delinsCTTATATTAAGG
NM_000343.4(SLC5A1):c.373-10C>T
NM_000343.4(SLC5A1):c.373-7del rs778194598
NM_000343.4(SLC5A1):c.376G>A (p.Val126Met)
NM_000343.4(SLC5A1):c.491C>T (p.Ser164Leu)
NM_000343.4(SLC5A1):c.536T>C (p.Leu179Ser) rs2149491664
NM_000343.4(SLC5A1):c.584-6G>A rs200525887
NM_000343.4(SLC5A1):c.611A>G (p.Asp204Gly)
NM_000343.4(SLC5A1):c.664+11C>T
NM_000343.4(SLC5A1):c.685_696del (p.Tyr229_Phe232del) rs1555965813
NM_000343.4(SLC5A1):c.757G>T (p.Glu253Ter)
NM_000343.4(SLC5A1):c.800G>A (p.Arg267Gln)
NM_000343.4(SLC5A1):c.85A>G (p.Ile29Val)
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val) rs139037092
NM_000343.4(SLC5A1):c.866G>A (p.Trp289Ter)
NM_000343.4(SLC5A1):c.885+1G>A
NM_000343.4(SLC5A1):c.899G>A (p.Arg300His)
NM_000343.4(SLC5A1):c.955T>C (p.Tyr319His)
NM_000352.6(ABCC8):c.1011+17del rs1346712530
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg) rs763028380
NM_000352.6(ABCC8):c.1064C>A (p.Ala355Asp)
NM_000352.6(ABCC8):c.1123G>A (p.Ala375Thr)
NM_000352.6(ABCC8):c.1265C>T (p.Ala422Val)
NM_000352.6(ABCC8):c.1268T>C (p.Ile423Thr)
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=) rs370169777
NM_000352.6(ABCC8):c.1287G>A (p.Met429Ile)
NM_000352.6(ABCC8):c.1333-1013A>G rs980458021
NM_000352.6(ABCC8):c.1343G>C (p.Gly448Ala)
NM_000352.6(ABCC8):c.1396G>A (p.Val466Ile)
NM_000352.6(ABCC8):c.13T>G (p.Phe5Val)
NM_000352.6(ABCC8):c.1429G>A (p.Val477Met)
NM_000352.6(ABCC8):c.1468-14G>A
NM_000352.6(ABCC8):c.1468-2A>G
NM_000352.6(ABCC8):c.148+1G>A rs766312766
NM_000352.6(ABCC8):c.154G>A (p.Gly52Arg)
NM_000352.6(ABCC8):c.1570A>G (p.Thr524Ala)
NM_000352.6(ABCC8):c.1577G>A (p.Arg526His) rs144481621
NM_000352.6(ABCC8):c.1647del (p.Ile550fs) rs2133554613
NM_000352.6(ABCC8):c.1682G>A (p.Gly561Asp)
NM_000352.6(ABCC8):c.1717C>T (p.Pro573Ser)
NM_000352.6(ABCC8):c.171G>C (p.Lys57Asn)
NM_000352.6(ABCC8):c.1731del (p.Phe577fs)
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373
NM_000352.6(ABCC8):c.1741T>A (p.Ser581Thr)
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu) rs1955814875
NM_000352.6(ABCC8):c.1813G>A (p.Val605Met)
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.1893del (p.Gln632fs) rs2133539303
NM_000352.6(ABCC8):c.1900C>G (p.Pro634Ala)
NM_000352.6(ABCC8):c.1901del (p.Pro634fs)
NM_000352.6(ABCC8):c.1924-18C>A
NM_000352.6(ABCC8):c.1957C>T (p.Arg653Trp) rs372230762
NM_000352.6(ABCC8):c.1962G>C (p.Glu654Asp)
NM_000352.6(ABCC8):c.1A>G (p.Met1Val) rs2496931481
NM_000352.6(ABCC8):c.2004del (p.Ser669fs) rs2496667722
NM_000352.6(ABCC8):c.2041-12C>A rs201419039
NM_000352.6(ABCC8):c.2054A>G (p.Tyr685Cys)
NM_000352.6(ABCC8):c.2073T>A (p.Asp691Glu)
NM_000352.6(ABCC8):c.2114G>A (p.Arg705Gln)
NM_000352.6(ABCC8):c.2135T>C (p.Val712Ala)
NM_000352.6(ABCC8):c.2152G>A (p.Gly718Ser)
NM_000352.6(ABCC8):c.2176G>T (p.Ala726Ser)
NM_000352.6(ABCC8):c.2222+1G>A rs1554923999
NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter) rs753296261
NM_000352.6(ABCC8):c.2245_2249del (p.Glu749fs)
NM_000352.6(ABCC8):c.2255+2T>C rs1057516589
NM_000352.6(ABCC8):c.2256C>T (p.Ser752=)
NM_000352.6(ABCC8):c.2278G>A (p.Asp760Asn)
NM_000352.6(ABCC8):c.2291+1G>A rs1160946320
NM_000352.6(ABCC8):c.2309C>G (p.Ala770Gly)
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=) rs766321878
NM_000352.6(ABCC8):c.2389C>G (p.Arg797Gly)
NM_000352.6(ABCC8):c.2391-5G>T
NM_000352.6(ABCC8):c.2391-9C>A
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.2449G>A (p.Gly817Arg)
NM_000352.6(ABCC8):c.2465T>C (p.Ile822Thr)
NM_000352.6(ABCC8):c.2470G>T (p.Glu824Ter) rs2496577975
NM_000352.6(ABCC8):c.2473C>T (p.Arg825Trp) rs779736828
NM_000352.6(ABCC8):c.2492del (p.Gly831fs)
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly) rs1484689392
NM_000352.6(ABCC8):c.2543A>G (p.Asn848Ser)
NM_000352.6(ABCC8):c.2572G>A (p.Ala858Thr)
NM_000352.6(ABCC8):c.25G>T (p.Glu9Ter)
NM_000352.6(ABCC8):c.2662del (p.His888fs)
NM_000352.6(ABCC8):c.2680C>T (p.Pro894Ser)
NM_000352.6(ABCC8):c.2689G>T (p.Asp897Tyr) rs2496556981
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.2706G>A (p.Met902Ile)
NM_000352.6(ABCC8):c.278T>C (p.Ile93Thr)
NM_000352.6(ABCC8):c.2854C>T (p.Pro952Ser)
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro) rs761960758
NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly) rs761160857
NM_000352.6(ABCC8):c.2869C>T (p.Arg957Cys)
NM_000352.6(ABCC8):c.2894T>C (p.Leu965Pro)
NM_000352.6(ABCC8):c.290+2T>C rs1554948310
NM_000352.6(ABCC8):c.291-5C>T rs2133711631
NM_000352.6(ABCC8):c.2917G>T (p.Glu973Ter)
NM_000352.6(ABCC8):c.291G>A (p.Gly97=)
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr) rs568576108
NM_000352.6(ABCC8):c.2929G>C (p.Ala977Pro)
NM_000352.6(ABCC8):c.2957C>T (p.Ser986Leu)
NM_000352.6(ABCC8):c.2969A>C (p.His990Pro)
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro) rs201499958
NM_000352.6(ABCC8):c.2980G>A (p.Glu994Lys)
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.6(ABCC8):c.3001G>A (p.Ala1001Thr)
NM_000352.6(ABCC8):c.3009C>G (p.Tyr1003Ter)
NM_000352.6(ABCC8):c.3014C>T (p.Ser1005Phe)
NM_000352.6(ABCC8):c.3019G>C (p.Ala1007Pro)
NM_000352.6(ABCC8):c.302C>T (p.Ser101Phe)
NM_000352.6(ABCC8):c.3096_3097delinsAA (p.Trp1032_Leu1033delinsTer)
NM_000352.6(ABCC8):c.3117C>A (p.Ser1039Arg) rs199723884
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs) rs786204542
NM_000352.6(ABCC8):c.3162+1G>A
NM_000352.6(ABCC8):c.3168C>T (p.Cys1056=) rs1799860
NM_000352.6(ABCC8):c.3170C>A (p.Thr1057Asn)
NM_000352.6(ABCC8):c.3188A>G (p.Tyr1063Cys)
NM_000352.6(ABCC8):c.3238G>A (p.Val1080Ile)
NM_000352.6(ABCC8):c.3261G>A (p.Trp1087Ter)
NM_000352.6(ABCC8):c.3327G>C (p.Met1109Ile)
NM_000352.6(ABCC8):c.3330-5C>T
NM_000352.6(ABCC8):c.3330G>A (p.Arg1110=)
NM_000352.6(ABCC8):c.3335T>C (p.Phe1112Ser)
NM_000352.6(ABCC8):c.3399G>T (p.Gln1133His)
NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=) rs762412267
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs) rs1263082097
NM_000352.6(ABCC8):c.3455C>A (p.Ala1152Asp) rs1354859002
NM_000352.6(ABCC8):c.3457C>A (p.Leu1153Met)
NM_000352.6(ABCC8):c.3484G>A (p.Val1162Met)
NM_000352.6(ABCC8):c.3515T>A (p.Ile1172Asn)
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.6(ABCC8):c.3589C>G (p.Leu1197Val)
NM_000352.6(ABCC8):c.3623_3625del (p.Glu1208del)
NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly) rs770028071
NM_000352.6(ABCC8):c.3650+2T>C
NM_000352.6(ABCC8):c.3650+2T>G
NM_000352.6(ABCC8):c.3662G>A (p.Arg1221Gln)
NM_000352.6(ABCC8):c.3665T>C (p.Phe1222Ser)
NM_000352.6(ABCC8):c.3682G>A (p.Glu1228Lys)
NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=) rs775699878
NM_000352.6(ABCC8):c.3777G>T (p.Val1259=)
NM_000352.6(ABCC8):c.3799A>G (p.Ile1267Val)
NM_000352.6(ABCC8):c.3837G>A (p.Leu1279=)
NM_000352.6(ABCC8):c.3867+1G>A rs2496469312
NM_000352.6(ABCC8):c.3893T>A (p.Val1298Glu)
NM_000352.6(ABCC8):c.389C>G (p.Ser130Cys)
NM_000352.6(ABCC8):c.392A>C (p.Asn131Thr)
NM_000352.6(ABCC8):c.3988+19G>C rs576340695
NM_000352.6(ABCC8):c.3988+9C>G
NM_000352.6(ABCC8):c.3988G>T (p.Ala1330Ser)
NM_000352.6(ABCC8):c.3989-14A>G
NM_000352.6(ABCC8):c.3989-28_3989-11del
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met) rs886039301
NM_000352.6(ABCC8):c.4034A>G (p.Gln1345Arg)
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His) rs28936370
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.4089C>G (p.His1363Gln)
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe) rs138642224
NM_000352.6(ABCC8):c.4105G>A (p.Ala1369Thr) rs757110
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.413-5G>C rs186946111
NM_000352.6(ABCC8):c.4140C>A (p.Thr1380=)
NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=) rs1250433233
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4198+3G>T
NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu) rs1436692401
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His) rs1446306735
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.6(ABCC8):c.4283_4290del (p.Pro1428fs)
NM_000352.6(ABCC8):c.4288C>T (p.Leu1430Phe)
NM_000352.6(ABCC8):c.4326G>C (p.Glu1442Asp)
NM_000352.6(ABCC8):c.432_435dup (p.Ala146fs)
NM_000352.6(ABCC8):c.4345A>C (p.Thr1449Pro)
NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro) rs1554904565
NM_000352.6(ABCC8):c.4357G>A (p.Ala1453Thr)
NM_000352.6(ABCC8):c.4411+18T>G
NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=) rs1953794808
NM_000352.6(ABCC8):c.4456A>G (p.Arg1486Gly)
NM_000352.6(ABCC8):c.4498A>G (p.Ser1500Gly)
NM_000352.6(ABCC8):c.4565del (p.Val1522fs)
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter) rs758231286
NM_000352.6(ABCC8):c.4601C>A (p.Thr1534Asn) rs1953751569
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter) rs1411638309
NM_000352.6(ABCC8):c.4661G>T (p.Gly1554Val) rs760494159
NM_000352.6(ABCC8):c.4702C>T (p.Arg1568Trp)
NM_000352.6(ABCC8):c.496C>T (p.Gln166Ter) rs1591896370
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.580-1G>C
NM_000352.6(ABCC8):c.597_598dup (p.Thr200fs)
NM_000352.6(ABCC8):c.643G>T (p.Val215Leu)
NM_000352.6(ABCC8):c.664G>A (p.Val222Met)
NM_000352.6(ABCC8):c.703G>A (p.Ala235Thr)
NM_000352.6(ABCC8):c.713A>G (p.Lys238Arg)
NM_000352.6(ABCC8):c.73G>A (p.Gly25Ser)
NM_000352.6(ABCC8):c.743G>A (p.Arg248Gln)
NM_000352.6(ABCC8):c.752G>A (p.Gly251Glu)
NM_000352.6(ABCC8):c.752G>T (p.Gly251Val)
NM_000352.6(ABCC8):c.763A>G (p.Ile255Val)
NM_000352.6(ABCC8):c.795G>T (p.Arg265=) rs1386314454
NM_000352.6(ABCC8):c.7C>G (p.Leu3Val)
NM_000352.6(ABCC8):c.805del (p.Ala269fs) rs1564976749
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp) rs372930264
NM_000352.6(ABCC8):c.814G>A (p.Ala272Thr)
NM_000352.6(ABCC8):c.868G>C (p.Ala290Pro)
NM_000352.6(ABCC8):c.874A>G (p.Ser292Gly)
NM_000352.6(ABCC8):c.878A>G (p.His293Arg) rs587783175
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser) rs751228166
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu) rs768372267
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000404.4(GLB1):c.1147A>T (p.Lys383Ter) rs1559385963
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1242del (p.Phe415fs)
NM_000404.4(GLB1):c.1347+1G>T rs757256051
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.146G>C (p.Arg49Pro) rs780523881
NM_000404.4(GLB1):c.1471G>T (p.Asp491Tyr)
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.1598_1601dup (p.His534fs) rs1304277420
NM_000404.4(GLB1):c.1787G>A (p.Gly596Asp) rs1696348575
NM_000404.4(GLB1):c.1792C>T (p.Gln598Ter)
NM_000404.4(GLB1):c.1823T>C (p.Leu608Pro)
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys) rs759483184
NM_000404.4(GLB1):c.1991del (p.Pro664fs) rs1553604677
NM_000404.4(GLB1):c.275G>A (p.Trp92Ter)
NM_000404.4(GLB1):c.288C>G (p.Tyr96Ter)
NM_000404.4(GLB1):c.289C>T (p.Gln97Ter)
NM_000404.4(GLB1):c.29dup (p.Leu11fs)
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) rs397515616
NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del) rs751033858
NM_000404.4(GLB1):c.435_436delinsA (p.Leu146fs)
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.462C>G (p.Tyr154Ter)
NM_000404.4(GLB1):c.468del (p.Ala157fs)
NM_000404.4(GLB1):c.47del (p.Leu16fs)
NM_000404.4(GLB1):c.488dup (p.Val164fs)
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro) rs397515617
NM_000404.4(GLB1):c.531_534del (p.Gly178fs) rs1559408259
NM_000404.4(GLB1):c.591dup (p.Asp198Ter) rs2125533127
NM_000404.4(GLB1):c.597_598del (p.Leu200fs)
NM_000404.4(GLB1):c.710A>G (p.Tyr237Cys) rs2471397544
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter) rs1378338444
NM_000404.4(GLB1):c.833del (p.Gly278fs) rs2471375093
NM_000404.4(GLB1):c.955+2T>G rs746883447
NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys) rs370107958
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter) rs751458617
NM_000458.4(HNF1B):c.1000_1001insA (p.Ser334fs)
NM_000458.4(HNF1B):c.1006C>A (p.His336Asn) rs138986885
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr) rs138986885
NM_000458.4(HNF1B):c.1013A>G (p.Gln338Arg)
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro) rs1282596664
NM_000458.4(HNF1B):c.1038G>A (p.Lys346=)
NM_000458.4(HNF1B):c.1046G>A (p.Gly349Glu)
NM_000458.4(HNF1B):c.1051C>T (p.Arg351Cys)
NM_000458.4(HNF1B):c.1056_1057del (p.Tyr352_Ser353delinsTer)
NM_000458.4(HNF1B):c.1062G>T (p.Gln354His) rs202109472
NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs) rs2511723972
NM_000458.4(HNF1B):c.1121T>C (p.Met374Thr)
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs) rs2147473703
NM_000458.4(HNF1B):c.116T>A (p.Phe39Tyr)
NM_000458.4(HNF1B):c.1196A>G (p.Asp399Gly)
NM_000458.4(HNF1B):c.1213G>C (p.Val405Leu)
NM_000458.4(HNF1B):c.1365T>G (p.Ser455Arg)
NM_000458.4(HNF1B):c.1399G>A (p.Ala467Thr)
NM_000458.4(HNF1B):c.1406_1413del (p.Leu469fs)
NM_000458.4(HNF1B):c.1493A>C (p.Gln498Pro)
NM_000458.4(HNF1B):c.1507G>C (p.Ala503Pro)
NM_000458.4(HNF1B):c.1525A>C (p.Asn509His) rs2511700041
NM_000458.4(HNF1B):c.1543C>T (p.His515Tyr) rs1188569241
NM_000458.4(HNF1B):c.1544A>G (p.His515Arg)
NM_000458.4(HNF1B):c.1562A>G (p.Gln521Arg)
NM_000458.4(HNF1B):c.171C>A (p.Asp57Glu)
NM_000458.4(HNF1B):c.193C>T (p.Leu65Phe)
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter) rs2511850923
NM_000458.4(HNF1B):c.315G>T (p.Glu105Asp)
NM_000458.4(HNF1B):c.332A>G (p.Asp111Gly) rs1311605355
NM_000458.4(HNF1B):c.33_34del (p.Glu11fs)
NM_000458.4(HNF1B):c.377A>G (p.Lys126Arg)
NM_000458.4(HNF1B):c.381_382del (p.Tyr128fs)
NM_000458.4(HNF1B):c.385A>G (p.Met129Val)
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu) rs121918674
NM_000458.4(HNF1B):c.454C>T (p.Gln152Ter)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer) rs193922489
NM_000458.4(HNF1B):c.494G>A (p.Arg165His) rs121918675
NM_000458.4(HNF1B):c.514del (p.Tyr172fs)
NM_000458.4(HNF1B):c.521_527del (p.Arg174fs)
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter) rs1800575
NM_000458.4(HNF1B):c.538C>T (p.Leu180Phe)
NM_000458.4(HNF1B):c.538_541del (p.Leu180fs)
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter) rs1057517744
NM_000458.4(HNF1B):c.544+14T>A rs759120365
NM_000458.4(HNF1B):c.544+1G>A rs1568670479
NM_000458.4(HNF1B):c.544+5G>A rs2511827891
NM_000458.4(HNF1B):c.544C>G (p.Gln182Glu)
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter) rs1568670481
NM_000458.4(HNF1B):c.558_561del (p.Val187fs)
NM_000458.4(HNF1B):c.577A>T (p.Met193Leu)
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr) rs760079000
NM_000458.4(HNF1B):c.601C>G (p.Gln201Glu)
NM_000458.4(HNF1B):c.622G>C (p.Glu208Gln)
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter) rs2147553451
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.658G>C (p.Asp220His) rs377555356
NM_000458.4(HNF1B):c.68A>G (p.Lys23Arg) rs2511853122
NM_000458.4(HNF1B):c.694C>T (p.Arg232Cys) rs766793933
NM_000458.4(HNF1B):c.695G>A (p.Arg232His)
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp) rs748416956
NM_000458.4(HNF1B):c.809+1G>A rs1555830002
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter) rs121918672
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln) rs2511802259
NM_000458.4(HNF1B):c.831G>A (p.Gly277=) rs199797518
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp) rs2511801868
NM_000458.4(HNF1B):c.884G>A (p.Arg295His) rs886043813
NM_000458.4(HNF1B):c.891C>A (p.Tyr297Ter)
NM_000458.4(HNF1B):c.908G>A (p.Arg303His) rs2033692404
NM_000458.4(HNF1B):c.949G>A (p.Ala317Thr)
NM_000458.4(HNF1B):c.995A>G (p.His332Arg)
NM_000458.4(HNF1B):c.997G>A (p.Gly333Ser)
NM_000507.4(FBP1):c.427-2A>G rs754248755
NM_000507.4(FBP1):c.704del (p.Pro235fs) rs774362519
NM_000507.4(FBP1):c.816dup (p.Asn273fs)
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.-2_13del (p.Met1_Val5del) rs2543661181
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del) rs794726887
NM_000512.5(GALNS):c.1120C>T (p.Gln374Ter) rs761455237
NM_000512.5(GALNS):c.120+1G>T
NM_000512.5(GALNS):c.121-2A>G rs1567538216
NM_000512.5(GALNS):c.1298_1299insCTTTTCC (p.Glu433fs) rs1910359431
NM_000512.5(GALNS):c.1318_1319del (p.Leu440fs) rs778286877
NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu) rs398123432
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del) rs1909818289
NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu) rs1482155729
NM_000512.5(GALNS):c.1459A>T (p.Asn487Tyr) rs2508364664
NM_000512.5(GALNS):c.1483-1G>T
NM_000512.5(GALNS):c.1487G>A (p.Trp496Ter)
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.319+2T>C rs2143005067
NM_000512.5(GALNS):c.320-1G>C rs1245504167
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000512.5(GALNS):c.503del (p.Gly168fs)
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000512.5(GALNS):c.675dup (p.Phe226fs) rs1480024542
NM_000512.5(GALNS):c.758+1G>A rs1363382746
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp) rs61742258
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro) rs2143001162
NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del) rs1567530426
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser) rs118204448
NM_000512.5(GALNS):c.899-2A>C rs1165218506
NM_000512.5(GALNS):c.899-2A>G rs1165218506
NM_000512.5(GALNS):c.910_914del (p.Gly304fs)
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.4(KCNJ11):c.-150G>A rs886048043
NM_000525.4(KCNJ11):c.1030_1031del (p.Cys344fs)
NM_000525.4(KCNJ11):c.1033A>G (p.Thr345Ala)
NM_000525.4(KCNJ11):c.1060A>G (p.Ser354Gly)
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys) rs543286136
NM_000525.4(KCNJ11):c.1105C>A (p.Arg369Ser) rs371275937
NM_000525.4(KCNJ11):c.110C>G (p.Ser37Cys)
NM_000525.4(KCNJ11):c.1121C>G (p.Pro374Arg)
NM_000525.4(KCNJ11):c.190G>T (p.Val64Leu)
NM_000525.4(KCNJ11):c.212C>T (p.Thr71Ile)
NM_000525.4(KCNJ11):c.224T>A (p.Phe75Tyr)
NM_000525.4(KCNJ11):c.293G>A (p.Gly98Asp)
NM_000525.4(KCNJ11):c.325C>T (p.Pro109Ser)
NM_000525.4(KCNJ11):c.406C>A (p.Arg136Ser) rs766891274
NM_000525.4(KCNJ11):c.430C>G (p.Leu144Val) rs1953586245
NM_000525.4(KCNJ11):c.433G>T (p.Ala145Ser) rs1490024562
NM_000525.4(KCNJ11):c.46C>T (p.Arg16Cys)
NM_000525.4(KCNJ11):c.628A>G (p.Ile210Val)
NM_000525.4(KCNJ11):c.62C>T (p.Pro21Leu)
NM_000525.4(KCNJ11):c.635G>A (p.Ser212Asn)
NM_000525.4(KCNJ11):c.65C>T (p.Ala22Val)
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
NM_000525.4(KCNJ11):c.719T>C (p.Met240Thr)
NM_000525.4(KCNJ11):c.730G>A (p.Val244Met)
NM_000525.4(KCNJ11):c.733G>T (p.Gly245Cys)
NM_000525.4(KCNJ11):c.758C>T (p.Ala253Val)
NM_000525.4(KCNJ11):c.814C>T (p.Pro272Ser)
NM_000525.4(KCNJ11):c.817A>G (p.Ser273Gly)
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met) rs750414160
NM_000525.4(KCNJ11):c.901C>T (p.Arg301Cys) rs377091338
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile) rs761575495
NM_000525.4(KCNJ11):c.943T>G (p.Phe315Val)
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112
NM_000525.4(KCNJ11):c.973C>T (p.Arg325Cys) rs550315112
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=) rs1489389760
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs) rs2024251717
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1110-6_1110del
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000528.4(MAN2B1):c.1223_1224delinsAA (p.Phe408Ter) rs2512503484
NM_000528.4(MAN2B1):c.1379del (p.Asp460fs) rs2512501525
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs) rs771647137
NM_000528.4(MAN2B1):c.1419+2T>C
NM_000528.4(MAN2B1):c.1419+6C>T
NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter) rs2023968144
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs) rs2145290975
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter) rs1224319934
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.2046+1G>T rs1555707087
NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs) rs2512489951
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2581G>T (p.Glu861Ter)
NM_000528.4(MAN2B1):c.2786delinsTCC (p.Arg929fs)
NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro) rs139041112
NM_000528.4(MAN2B1):c.2923+2T>A
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr) rs1555710357
NM_000528.4(MAN2B1):c.426del (p.Val143fs) rs2024205685
NM_000528.4(MAN2B1):c.464G>A (p.Trp155Ter)
NM_000528.4(MAN2B1):c.561del (p.Arg188fs) rs770297337
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro) rs864621979
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159
NM_000528.4(MAN2B1):c.909+1G>A
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000528.4(MAN2B1):c.965_966del (p.Gln321_Tyr322insTer) rs778131120
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) rs193922598
NM_000545.8(HNF1A):c.-119G>A
NM_000545.8(HNF1A):c.-133_-128dup
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000545.8(HNF1A):c.-64_-55delinsGC
NM_000545.8(HNF1A):c.1036_1056dup (p.Ser352_Pro353insThrProLeuHisGlnValSer)
NM_000545.8(HNF1A):c.1107+9C>T
NM_000545.8(HNF1A):c.1107G>C (p.Leu369=)
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1206C>A (p.Asn402Lys)
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.1322C>T (p.Thr441Met) rs371544082
NM_000545.8(HNF1A):c.1361G>A (p.Ser454Asn)
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.8(HNF1A):c.1456C>T (p.Gln486Ter)
NM_000545.8(HNF1A):c.1469T>C (p.Met490Thr)
NM_000545.8(HNF1A):c.1474A>G (p.Thr492Ala)
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.1512C>A (p.Ser504Arg) rs944413465
NM_000545.8(HNF1A):c.1526T>C (p.Val509Ala)
NM_000545.8(HNF1A):c.1544C>T (p.Thr515Met) rs745460046
NM_000545.8(HNF1A):c.154G>A (p.Gly52Ser)
NM_000545.8(HNF1A):c.1555_1556dup (p.Gln520fs)
NM_000545.8(HNF1A):c.1575_1576delinsA (p.Asp526fs)
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met) rs372624970
NM_000545.8(HNF1A):c.1668_1669delinsAT (p.His556_Thr557delinsGlnSer)
NM_000545.8(HNF1A):c.1715del (p.Pro572fs)
NM_000545.8(HNF1A):c.1717G>T (p.Ala573Ser)
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
NM_000545.8(HNF1A):c.1720_1721delinsGA (p.Ser574Asp)
NM_000545.8(HNF1A):c.1720delinsGGCATCCAGCACCG (p.Ser574fs)
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro) rs1877318918
NM_000545.8(HNF1A):c.1768+5G>A
NM_000545.8(HNF1A):c.1789C>T (p.Leu597=)
NM_000545.8(HNF1A):c.1810A>G (p.Ser604Gly)
NM_000545.8(HNF1A):c.1812C>G (p.Ser604Arg)
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr) rs2135854619
NM_000545.8(HNF1A):c.1838C>T (p.Ser613Phe)
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met) rs193922591
NM_000545.8(HNF1A):c.1864A>C (p.Ile622Leu)
NM_000545.8(HNF1A):c.1877T>A (p.Met626Lys)
NM_000545.8(HNF1A):c.216C>G (p.Asp72Glu)
NM_000545.8(HNF1A):c.223G>A (p.Asp75Asn)
NM_000545.8(HNF1A):c.238G>T (p.Asp80Tyr) rs76845985
NM_000545.8(HNF1A):c.272A>G (p.Asn91Ser)
NM_000545.8(HNF1A):c.283G>A (p.Glu95Lys) rs1555210473
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) rs753998395
NM_000545.8(HNF1A):c.3G>A (p.Met1Ile)
NM_000545.8(HNF1A):c.41C>T (p.Ala14Val) rs772214801
NM_000545.8(HNF1A):c.464A>G (p.Lys155Arg)
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.542G>A (p.Gly181Glu)
NM_000545.8(HNF1A):c.548G>C (p.Gly183Ala)
NM_000545.8(HNF1A):c.587C>G (p.Thr196Ser)
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.691A>T (p.Thr231Ser)
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000545.8(HNF1A):c.845C>A (p.Ala282Asp)
NM_000545.8(HNF1A):c.862G>A (p.Gly288Arg) rs539507291
NM_000545.8(HNF1A):c.863_864inv (p.Gly288Ala)
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser) rs765829022
NM_000545.8(HNF1A):c.869C>A (p.Pro290His) rs778231679
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr) rs151256267
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala) rs151256267
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu) rs193922606
NM_000545.8(HNF1A):c.893C>T (p.Ala298Val)
NM_000545.8(HNF1A):c.929C>T (p.Pro310Leu)
NM_000545.8(HNF1A):c.932C>G (p.Ala311Gly)
NM_000545.8(HNF1A):c.943A>C (p.Ser315Arg)
NM_000545.8(HNF1A):c.950T>C (p.Val317Ala)
NM_000545.8(HNF1A):c.961C>T (p.Arg321Cys)
NM_000545.8(HNF1A):c.973C>A (p.Pro325Thr)
NM_000642.3(AGL):c.-69+1G>C rs1413359590
NM_000642.3(AGL):c.1024A>G (p.Arg342Gly) rs1216156102
NM_000642.3(AGL):c.1054A>G (p.Ile352Val) rs1651360894
NM_000642.3(AGL):c.1083C>G (p.Asp361Glu) rs928357712
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln) rs758882822
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs) rs1652003965
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.2204A>C (p.His735Pro) rs749756974
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2291C>T (p.Pro764Leu) rs2100760670
NM_000642.3(AGL):c.2565T>C (p.His855=) rs1312742910
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) rs767529587
NM_000642.3(AGL):c.2896A>T (p.Met966Leu) rs772843306
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3260-14_3260-10dup rs1653309500
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly) rs757161555
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp) rs1570514873
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.454G>T (p.Glu152Ter) rs1650125542
NM_000642.3(AGL):c.460+1G>A rs930434905
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.837C>A (p.His279Gln) rs1242665410
NM_000642.3(AGL):c.861_864del (p.Ile288fs) rs1571243699
NM_000642.3(AGL):c.895T>G (p.Trp299Gly) rs773101055
NM_000642.3(AGL):c.922A>G (p.Lys308Glu) rs2101113540
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101
NM_000642.3(AGL):c.974C>G (p.Thr325Ser) rs2101126080
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln) rs868788199
NM_001008216.2(GALE):c.122-11_122-1del rs747715399
NM_001008216.2(GALE):c.142_143del (p.Ser48fs)
NM_001008216.2(GALE):c.151_154del (p.Arg51fs) rs780861587
NM_001008216.2(GALE):c.2T>C (p.Met1Thr) rs1268440347
NM_001008216.2(GALE):c.315_316del (p.Tyr105_Arg106delinsTer)
NM_001008216.2(GALE):c.351+1G>T rs1388106856
NM_001008216.2(GALE):c.517del (p.Gln173fs) rs1557479812
NM_001008216.2(GALE):c.548T>C (p.Leu183Pro) rs121908045
NM_001008216.2(GALE):c.643-2A>C rs773462569
NM_001008216.2(GALE):c.726_729del (p.Ile242fs)
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001008216.2(GALE):c.882C>A (p.Tyr294Ter)
NM_001008216.2(GALE):c.882C>G (p.Tyr294Ter)
NM_001008216.2(GALE):c.924C>G (p.Tyr308Ter)
NM_001008216.2(GALE):c.989_990dup (p.Glu331fs)
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys) rs113994143
NM_001040716.2(PC):c.1368+1G>A rs755640269
NM_001040716.2(PC):c.1368+1G>C
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr) rs28940589
NM_001040716.2(PC):c.2206_2218delinsTT (p.His736fs)
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp) rs2135798857
NM_001040716.2(PC):c.2473+2_2473+5del rs755082537
NM_001040716.2(PC):c.280C>T (p.Gln94Ter) rs867332885
NM_001040716.2(PC):c.2895del (p.Lys966fs)
NM_001040716.2(PC):c.2971G>T (p.Glu991Ter) rs2495406056
NM_001040716.2(PC):c.3135del (p.Glu1046fs)
NM_001040716.2(PC):c.3387del (p.Lys1130fs) rs2135783409
NM_001040716.2(PC):c.80del (p.Pro27fs)
NM_001040716.2(PC):c.854dup (p.Gln286fs)
NM_001041.4(SI):c.1021-7C>G
NM_001041.4(SI):c.1023del (p.Val342fs) rs1713910885
NM_001041.4(SI):c.1034C>T (p.Pro345Leu)
NM_001041.4(SI):c.106C>A (p.Pro36Thr)
NM_001041.4(SI):c.1127G>A (p.Arg376Gln)
NM_001041.4(SI):c.1129G>A (p.Glu377Lys)
NM_001041.4(SI):c.113T>C (p.Val38Ala)
NM_001041.4(SI):c.1141C>A (p.Pro381Thr)
NM_001041.4(SI):c.1156G>C (p.Val386Leu)
NM_001041.4(SI):c.1167T>G (p.Ile389Met)
NM_001041.4(SI):c.118+6T>C
NM_001041.4(SI):c.1180G>A (p.Asp394Asn)
NM_001041.4(SI):c.119-11dup rs533057264
NM_001041.4(SI):c.119A>G (p.Glu40Gly)
NM_001041.4(SI):c.1211C>T (p.Ala404Val) rs202151060
NM_001041.4(SI):c.1238A>C (p.Gln413Pro)
NM_001041.4(SI):c.1278+6_1278+8del
NM_001041.4(SI):c.1290T>G (p.Ile430Met)
NM_001041.4(SI):c.12G>T (p.Lys4Asn)
NM_001041.4(SI):c.1300C>T (p.Arg434Ter)
NM_001041.4(SI):c.1331A>G (p.Tyr444Cys)
NM_001041.4(SI):c.1333G>A (p.Glu445Lys)
NM_001041.4(SI):c.1339G>A (p.Gly447Arg) rs764176809
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del) rs1446666305
NM_001041.4(SI):c.1404G>A (p.Trp468Ter)
NM_001041.4(SI):c.1447A>C (p.Ile483Leu)
NM_001041.4(SI):c.1452T>C (p.Asp484=)
NM_001041.4(SI):c.1488A>T (p.Glu496Asp)
NM_001041.4(SI):c.1506T>G (p.Leu502=) rs113511967
NM_001041.4(SI):c.1513-3C>A
NM_001041.4(SI):c.1543_1546delinsCTTTATTCCAGCTTTATA (p.Gly515fs)
NM_001041.4(SI):c.154C>T (p.Arg52Cys) rs749466707
NM_001041.4(SI):c.1567A>C (p.Asn523His) rs780055379
NM_001041.4(SI):c.1586C>T (p.Pro529Leu)
NM_001041.4(SI):c.1619A>G (p.Tyr540Cys) rs1284511719
NM_001041.4(SI):c.1624A>T (p.Lys542Ter)
NM_001041.4(SI):c.1655G>A (p.Trp552Ter)
NM_001041.4(SI):c.1657G>A (p.Gly553Ser) rs540565047
NM_001041.4(SI):c.1699G>A (p.Ala567Thr) rs1441981061
NM_001041.4(SI):c.1756C>T (p.Leu586Phe)
NM_001041.4(SI):c.1795G>T (p.Ala599Ser)
NM_001041.4(SI):c.1799A>G (p.His600Arg)
NM_001041.4(SI):c.17T>G (p.Phe6Cys)
NM_001041.4(SI):c.1880del (p.Ile627fs)
NM_001041.4(SI):c.1903T>G (p.Cys635Gly)
NM_001041.4(SI):c.1910delinsGTCTTC (p.Phe637fs) rs2473358472
NM_001041.4(SI):c.1914G>A (p.Val638=)
NM_001041.4(SI):c.2004+1G>A
NM_001041.4(SI):c.2005-3C>A
NM_001041.4(SI):c.2025dup (p.Gly676fs) rs2108219188
NM_001041.4(SI):c.2028dup (p.Gln677fs) rs751534972
NM_001041.4(SI):c.2042del (p.Leu681fs)
NM_001041.4(SI):c.2043G>T (p.Leu681Phe)
NM_001041.4(SI):c.2075G>A (p.Arg692His)
NM_001041.4(SI):c.207T>A (p.Asp69Glu)
NM_001041.4(SI):c.2111A>C (p.Tyr704Ser)
NM_001041.4(SI):c.212T>C (p.Val71Ala)
NM_001041.4(SI):c.2137G>C (p.Val713Leu)
NM_001041.4(SI):c.2159+5G>C
NM_001041.4(SI):c.2160-15T>G
NM_001041.4(SI):c.2224A>T (p.Ile742Phe)
NM_001041.4(SI):c.2233G>C (p.Val745Leu)
NM_001041.4(SI):c.2236C>G (p.Leu746Val)
NM_001041.4(SI):c.2244+14G>A rs114458546
NM_001041.4(SI):c.2301T>C (p.Ser767=)
NM_001041.4(SI):c.2329C>T (p.Arg777Trp) rs369923936
NM_001041.4(SI):c.2330G>A (p.Arg777Gln)
NM_001041.4(SI):c.2361A>C (p.Ile787=) rs116791931
NM_001041.4(SI):c.2416A>C (p.Thr806Pro)
NM_001041.4(SI):c.2429G>A (p.Arg810His) rs746487509
NM_001041.4(SI):c.2491_2492del (p.Phe831fs)
NM_001041.4(SI):c.2579T>A (p.Ile860Asn)
NM_001041.4(SI):c.2611A>G (p.Thr871Ala)
NM_001041.4(SI):c.2638A>G (p.Ile880Val)
NM_001041.4(SI):c.2654_2657del (p.Asp885fs) rs1221816681
NM_001041.4(SI):c.2660T>C (p.Val887Ala)
NM_001041.4(SI):c.2687del (p.Asn896fs)
NM_001041.4(SI):c.2715C>A (p.Phe905Leu)
NM_001041.4(SI):c.2716A>T (p.Thr906Ser)
NM_001041.4(SI):c.2728T>C (p.Ser910Pro)
NM_001041.4(SI):c.2736G>C (p.Gln912His) rs746565689
NM_001041.4(SI):c.2737-11del rs11452619
NM_001041.4(SI):c.2737-12_2737-11del rs11452619
NM_001041.4(SI):c.2737-17_2737-11del rs11452619
NM_001041.4(SI):c.2737-1G>C rs1294620045
NM_001041.4(SI):c.2737-23dup rs11452619
NM_001041.4(SI):c.273_274del (p.Gly92fs) rs781470490
NM_001041.4(SI):c.2752G>A (p.Asp918Asn)
NM_001041.4(SI):c.2777A>G (p.Asn926Ser)
NM_001041.4(SI):c.2800A>C (p.Ile934Leu)
NM_001041.4(SI):c.281G>A (p.Cys94Tyr)
NM_001041.4(SI):c.2830T>C (p.Tyr944His)
NM_001041.4(SI):c.285G>A (p.Trp95Ter)
NM_001041.4(SI):c.2865C>A (p.Cys955Ter) rs2108202378
NM_001041.4(SI):c.2875G>T (p.Gly959Cys) rs2108202354
NM_001041.4(SI):c.2893-10G>A rs2473296314
NM_001041.4(SI):c.2893-1G>A rs2473296292
NM_001041.4(SI):c.2905T>G (p.Ser969Ala)
NM_001041.4(SI):c.2911G>A (p.Ala971Thr)
NM_001041.4(SI):c.2945_2946del (p.Ser982fs) rs751263307
NM_001041.4(SI):c.2999A>G (p.Gln1000Arg)
NM_001041.4(SI):c.302C>G (p.Ser101Cys)
NM_001041.4(SI):c.3064G>A (p.Val1022Met) rs201018248
NM_001041.4(SI):c.3075C>A (p.His1025Gln)
NM_001041.4(SI):c.3076A>G (p.Lys1026Glu) rs2473295201
NM_001041.4(SI):c.3099+1G>C rs775933206
NM_001041.4(SI):c.3123A>G (p.Arg1041=)
NM_001041.4(SI):c.3182G>C (p.Arg1061Thr)
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer) rs776569472
NM_001041.4(SI):c.3190G>A (p.Asp1064Asn) rs764256380
NM_001041.4(SI):c.3207_3209delinsTT (p.Glu1069fs)
NM_001041.4(SI):c.3230G>A (p.Arg1077Gln)
NM_001041.4(SI):c.3240C>G (p.Ser1080Arg) rs768521512
NM_001041.4(SI):c.3335_3336dup (p.Gly1113fs)
NM_001041.4(SI):c.3389C>T (p.Thr1130Ile)
NM_001041.4(SI):c.3430C>T (p.Leu1144Phe)
NM_001041.4(SI):c.3461T>C (p.Met1154Thr)
NM_001041.4(SI):c.3523G>T (p.Val1175Phe)
NM_001041.4(SI):c.3533A>G (p.Gln1178Arg)
NM_001041.4(SI):c.3547C>G (p.Leu1183Val)
NM_001041.4(SI):c.3548T>C (p.Leu1183Pro)
NM_001041.4(SI):c.3586_3587del (p.Met1196fs) rs780535026
NM_001041.4(SI):c.3605C>T (p.Pro1202Leu)
NM_001041.4(SI):c.3629A>G (p.His1210Arg)
NM_001041.4(SI):c.3629dup (p.His1210fs)
NM_001041.4(SI):c.3631G>T (p.Glu1211Ter)
NM_001041.4(SI):c.3634-5del rs750773954
NM_001041.4(SI):c.371T>C (p.Ile124Thr) rs889224862
NM_001041.4(SI):c.3734C>A (p.Ala1245Asp)
NM_001041.4(SI):c.3734C>T (p.Ala1245Val)
NM_001041.4(SI):c.374-11del rs11313475
NM_001041.4(SI):c.374-11dup rs11313475
NM_001041.4(SI):c.374-7_374-4del
NM_001041.4(SI):c.374G>C (p.Gly125Ala)
NM_001041.4(SI):c.3750C>A (p.Asn1250Lys)
NM_001041.4(SI):c.3760-1G>A
NM_001041.4(SI):c.3820G>A (p.Ala1274Thr)
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg) rs1559990351
NM_001041.4(SI):c.3872G>A (p.Arg1291Lys)
NM_001041.4(SI):c.3880A>T (p.Ile1294Phe)
NM_001041.4(SI):c.3887T>C (p.Leu1296Pro)
NM_001041.4(SI):c.3943C>T (p.Gln1315Ter)
NM_001041.4(SI):c.3989G>T (p.Cys1330Phe)
NM_001041.4(SI):c.3G>A (p.Met1Ile) rs1427661221
NM_001041.4(SI):c.404_405insCACCTACACTATTTGGAAATGACATCA (p.Ser135_Pro136insThrTyrThrIleTrpLysTer)
NM_001041.4(SI):c.4062+17C>G rs1718837805
NM_001041.4(SI):c.4094dup (p.Phe1366fs) rs1718661487
NM_001041.4(SI):c.4208_4223del (p.Asn1403fs) rs1038499768
NM_001041.4(SI):c.4240G>C (p.Glu1414Gln) rs145734588
NM_001041.4(SI):c.424G>C (p.Asp142His)
NM_001041.4(SI):c.431A>G (p.Asn144Ser)
NM_001041.4(SI):c.4346C>T (p.Ser1449Leu)
NM_001041.4(SI):c.4353G>C (p.Leu1451Phe)
NM_001041.4(SI):c.4359C>G (p.Tyr1453Ter)
NM_001041.4(SI):c.4381T>G (p.Trp1461Gly)
NM_001041.4(SI):c.4382G>A (p.Trp1461Ter)
NM_001041.4(SI):c.4545G>T (p.Met1515Ile)
NM_001041.4(SI):c.4561_4564del (p.Phe1521fs)
NM_001041.4(SI):c.4575+4A>G
NM_001041.4(SI):c.457del (p.Gln153fs)
NM_001041.4(SI):c.4602dup (p.Asn1535fs)
NM_001041.4(SI):c.4622T>C (p.Leu1541Pro)
NM_001041.4(SI):c.4642C>T (p.Leu1548Phe)
NM_001041.4(SI):c.4674C>G (p.His1558Gln)
NM_001041.4(SI):c.4692+4T>A
NM_001041.4(SI):c.469C>G (p.Arg157Gly)
NM_001041.4(SI):c.4727C>T (p.Ala1576Val)
NM_001041.4(SI):c.4759T>A (p.Tyr1587Asn)
NM_001041.4(SI):c.4763C>T (p.Thr1588Ile)
NM_001041.4(SI):c.4804G>T (p.Ala1602Ser)
NM_001041.4(SI):c.4817C>G (p.Thr1606Ser) rs376062850
NM_001041.4(SI):c.4817C>T (p.Thr1606Ile) rs376062850
NM_001041.4(SI):c.4839T>C (p.His1613=)
NM_001041.4(SI):c.4841+1G>A
NM_001041.4(SI):c.4842-3G>A rs112107483
NM_001041.4(SI):c.4866G>C (p.Trp1622Cys)
NM_001041.4(SI):c.4894C>G (p.Pro1632Ala)
NM_001041.4(SI):c.4927-1G>A
NM_001041.4(SI):c.4937C>G (p.Thr1646Ser)
NM_001041.4(SI):c.4961C>G (p.Ala1654Gly) rs150702232
NM_001041.4(SI):c.4963C>T (p.Arg1655Trp) rs760505676
NM_001041.4(SI):c.4999G>A (p.Val1667Ile) rs142018224
NM_001041.4(SI):c.5050C>T (p.His1684Tyr)
NM_001041.4(SI):c.5053G>A (p.Val1685Ile)
NM_001041.4(SI):c.5056C>T (p.Arg1686Cys)
NM_001041.4(SI):c.5156T>C (p.Met1719Thr)
NM_001041.4(SI):c.518C>T (p.Pro173Leu)
NM_001041.4(SI):c.5198-20dup rs566002300
NM_001041.4(SI):c.5261G>A (p.Ser1754Asn)
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp) rs145556619
NM_001041.4(SI):c.5279G>T (p.Gly1760Val) rs145556619
NM_001041.4(SI):c.5371G>T (p.Gly1791Ter)
NM_001041.4(SI):c.5385G>A (p.Ser1795=) rs759867192
NM_001041.4(SI):c.545dup (p.Pro183fs)
NM_001041.4(SI):c.5464A>G (p.Ile1822Val) rs965822078
NM_001041.4(SI):c.593C>T (p.Pro198Leu)
NM_001041.4(SI):c.635+2T>C rs1185991890
NM_001041.4(SI):c.636-22_636-19del rs558953371
NM_001041.4(SI):c.650T>C (p.Ile217Thr)
NM_001041.4(SI):c.675G>A (p.Gln225=)
NM_001041.4(SI):c.682C>T (p.Gln228Ter)
NM_001041.4(SI):c.686T>A (p.Ile229Asn)
NM_001041.4(SI):c.70G>A (p.Ala24Thr)
NM_001041.4(SI):c.727G>A (p.Glu243Lys)
NM_001041.4(SI):c.751C>T (p.His251Tyr)
NM_001041.4(SI):c.752A>T (p.His251Leu) rs768888806
NM_001041.4(SI):c.793del (p.Gln265fs) rs1714177959
NM_001041.4(SI):c.803G>C (p.Gly268Ala)
NM_001041.4(SI):c.822A>T (p.Leu274Phe)
NM_001041.4(SI):c.848G>A (p.Cys283Tyr)
NM_001041.4(SI):c.853G>T (p.Glu285Ter) rs758259365
NM_001041.4(SI):c.886_887dup (p.Leu296fs)
NM_001041.4(SI):c.891G>T (p.Met297Ile)
NM_001041.4(SI):c.916A>C (p.Ile306Leu)
NM_001041.4(SI):c.938C>T (p.Thr313Ile)
NM_001064.4(TKT):c.458T>C (p.Leu153Pro)
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs) rs868289171
NM_001160372.4(TRAPPC9):c.2263G>T (p.Val755Phe) rs773051579
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1066A>T (p.Ser356Cys)
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr) rs1565686175
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg) rs782552989
NM_001164277.2(SLC37A4):c.1217C>A (p.Ala406Asp)
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) rs2134626266
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser) rs781846380
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp) rs1483724786
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser) rs571267951
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg) rs571267951
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3]) rs782663171
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His) rs370839177
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001164277.2(SLC37A4):c.434T>C (p.Met145Thr)
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe) rs775311483
NM_001164277.2(SLC37A4):c.61T>C (p.Tyr21His) rs1943676569
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg) rs1176277831
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=) rs782547500
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.872C>G (p.Ala291Gly) rs200147602
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp) rs539911116
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr) rs1943553852
NM_001166686.2(PFKM):c.62_65del (p.Val21fs)
NM_001243177.4(ALDOA):c.274+3G>A
NM_001352514.2(HLCS):c.1162G>T (p.Gly388Trp)
NM_001352514.2(HLCS):c.1418G>A (p.Gly473Glu)
NM_001352514.2(HLCS):c.1493del (p.Asn498fs)
NM_001352514.2(HLCS):c.1600dup (p.Tyr534fs)
NM_001352514.2(HLCS):c.1620+2T>G
NM_001352514.2(HLCS):c.1631del (p.Asp544fs) rs2517424327
NM_001352514.2(HLCS):c.1648_1649insATAAGAGGGATATG (p.Leu550fs)
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly) rs767190021
NM_001352514.2(HLCS):c.1892+2T>C
NM_001352514.2(HLCS):c.1935dup (p.Ala646fs)
NM_001352514.2(HLCS):c.2347C>G (p.Leu783Val) rs2089611303
NM_001352514.2(HLCS):c.2600del (p.Leu867fs) rs761447836
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer) rs1064796014
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter) rs1555957134
NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter) rs1288729804
NM_001360016.2(G6PD):c.1028_1029del (p.Tyr343fs)
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met) rs782098548
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.679C>G (p.Arg227Gly)
NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu) rs115887120
NM_001366110.1(PAX4):c.380T>A (p.Val127Asp)
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.1134delinsAA (p.Met378fs)
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala) rs1553654038
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser) rs397514335
NM_001370658.1(BTD):c.1256C>A (p.Ala419Asp) rs779141922
NM_001370658.1(BTD):c.1264del (p.Val422fs) rs1057517362
NM_001370658.1(BTD):c.1270G>T (p.Asp424Tyr)
NM_001370658.1(BTD):c.1499del (p.Phe500fs)
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.274G>A (p.Glu92Lys) rs397514352
NM_001370658.1(BTD):c.346del (p.Gln116fs) rs1404904752
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter) rs2125486425
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.3G>A (p.Met1Ile)
NM_001370658.1(BTD):c.430del (p.Arg144fs) rs2471509283
NM_001370658.1(BTD):c.499C>T (p.Pro167Ser) rs397507173
NM_001370658.1(BTD):c.570C>A (p.Tyr190Ter)
NM_001370658.1(BTD):c.577del (p.His193fs) rs780874850
NM_001370658.1(BTD):c.70_71del (p.Thr24fs) rs2471439812
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.782C>T (p.Ala261Val)
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser) rs760333260
NM_001715.3(BLK):c.269+13G>C rs144839649
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_001715.3(BLK):c.437G>C (p.Gly146Ala)
NM_001715.3(BLK):c.591G>T (p.Ser197=) rs140834602
NM_001807.6(CEL):c.109A>C (p.Asn37His)
NM_001807.6(CEL):c.110A>G (p.Asn37Ser)
NM_001807.6(CEL):c.1294A>G (p.Lys432Glu)
NM_001807.6(CEL):c.1296G>T (p.Lys432Asn)
NM_001807.6(CEL):c.1327C>T (p.Arg443Trp)
NM_001807.6(CEL):c.1341C>A (p.Tyr447Ter)
NM_001807.6(CEL):c.1347A>T (p.Lys449Asn)
NM_001807.6(CEL):c.1353G>A (p.Val451=)
NM_001807.6(CEL):c.1360G>A (p.Asp454Asn)
NM_001807.6(CEL):c.1398del (p.Phe467fs)
NM_001807.6(CEL):c.1421G>A (p.Arg474Gln)
NM_001807.6(CEL):c.1427A>C (p.Gln476Pro)
NM_001807.6(CEL):c.1447G>A (p.Ala483Thr)
NM_001807.6(CEL):c.1456G>A (p.Ala486Thr)
NM_001807.6(CEL):c.1468A>C (p.Asn490His)
NM_001807.6(CEL):c.1510G>A (p.Val504Met)
NM_001807.6(CEL):c.1537A>G (p.Thr513Ala)
NM_001807.6(CEL):c.1538C>T (p.Thr513Met)
NM_001807.6(CEL):c.1539G>A (p.Thr513=)
NM_001807.6(CEL):c.1564A>G (p.Thr522Ala)
NM_001807.6(CEL):c.1643C>A (p.Ala548Glu) rs529664291
NM_001807.6(CEL):c.1659C>G (p.Thr553=) rs78256304
NM_001807.6(CEL):c.166G>A (p.Ala56Thr)
NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer) rs2119070291
NM_001807.6(CEL):c.1674_1706del (p.557ATPVPPTGDSE[1])
NM_001807.6(CEL):c.1676C>T (p.Pro559Leu)
NM_001807.6(CEL):c.1700_1738delinsGGGCCC (p.Glu567_Ala580delinsGlyAlaPro)
NM_001807.6(CEL):c.1705_1737del (p.Thr569_Thr579del)
NM_001807.6(CEL):c.1723G>C (p.Gly575Arg)
NM_001807.6(CEL):c.1727A>G (p.Asp576Gly)
NM_001807.6(CEL):c.1759G>A (p.Asp587Asn)
NM_001807.6(CEL):c.1771C>T (p.Pro591Ser)
NM_001807.6(CEL):c.2080C>T (p.Pro694Ser)
NM_001807.6(CEL):c.209G>T (p.Gly70Val)
NM_001807.6(CEL):c.2137C>G (p.Pro713Ala)
NM_001807.6(CEL):c.2139_2171del (p.Gly721_Ser731del)
NM_001807.6(CEL):c.2139dup (p.Val714fs)
NM_001807.6(CEL):c.2159C>T (p.Ser720Phe)
NM_001807.6(CEL):c.2161_2226del (p.Gly721_Ser742del)
NM_001807.6(CEL):c.2184_2216del (p.Gly729_Thr739del)
NM_001807.6(CEL):c.2184_2216dup (p.Thr739_Asp740insGlyAspSerGluAlaAlaProValProProThr)
NM_001807.6(CEL):c.2198_2230del (p.Ala733_Lys743del)
NM_001807.6(CEL):c.262A>G (p.Thr88Ala)
NM_001807.6(CEL):c.265A>G (p.Ile89Val) rs746003254
NM_001807.6(CEL):c.289G>T (p.Asp97Tyr)
NM_001807.6(CEL):c.302T>C (p.Leu101Pro)
NM_001807.6(CEL):c.313A>G (p.Ile105Val)
NM_001807.6(CEL):c.353_358delinsGGCCCA (p.Leu118_Val120delinsArgProIle)
NM_001807.6(CEL):c.374A>G (p.Tyr125Cys)
NM_001807.6(CEL):c.427T>C (p.Tyr143His)
NM_001807.6(CEL):c.442G>A (p.Glu148Lys)
NM_001807.6(CEL):c.457C>T (p.Arg153Cys)
NM_001807.6(CEL):c.466_479del (p.Val156fs) rs572853045
NM_001807.6(CEL):c.481T>C (p.Phe161Leu)
NM_001807.6(CEL):c.485A>G (p.Asn162Ser)
NM_001807.6(CEL):c.490C>T (p.Arg164Cys)
NM_001807.6(CEL):c.500C>T (p.Pro167Leu)
NM_001807.6(CEL):c.537A>G (p.Pro179=)
NM_001807.6(CEL):c.538+5G>A
NM_001807.6(CEL):c.538+5G>C
NM_001807.6(CEL):c.553C>T (p.Arg185Trp)
NM_001807.6(CEL):c.610dup (p.Asp204fs)
NM_001807.6(CEL):c.656G>C (p.Ser219Thr)
NM_001807.6(CEL):c.669+6G>A
NM_001807.6(CEL):c.67-3C>A
NM_001807.6(CEL):c.670-1G>C
NM_001807.6(CEL):c.678C>T (p.Ser226=)
NM_001807.6(CEL):c.718A>G (p.Ser240Gly) rs2490428937
NM_001807.6(CEL):c.721G>A (p.Gly241Ser)
NM_001807.6(CEL):c.724G>A (p.Val242Met)
NM_001807.6(CEL):c.728C>T (p.Ala243Val)
NM_001807.6(CEL):c.741G>T (p.Trp247Cys)
NM_001807.6(CEL):c.758C>T (p.Pro253Leu)
NM_001807.6(CEL):c.779T>A (p.Val260Glu)
NM_001807.6(CEL):c.814G>A (p.Ala272Thr)
NM_001807.6(CEL):c.828G>A (p.Gln276=)
NM_001807.6(CEL):c.847C>G (p.Pro283Ala)
NM_001807.6(CEL):c.850C>G (p.Arg284Gly) rs369868891
NM_001807.6(CEL):c.850C>T (p.Arg284Ter)
NM_001807.6(CEL):c.866C>T (p.Ala289Val)
NM_001807.6(CEL):c.869A>G (p.Tyr290Cys)
NM_001807.6(CEL):c.893A>G (p.Glu298Gly)
NM_001807.6(CEL):c.99G>C (p.Val33=) rs199971842
NM_001931.5(DLAT):c.1030del (p.Cys344fs)
NM_001931.5(DLAT):c.1515-1G>T
NM_002076.4(GNS):c.1063C>T (p.Arg355Ter) rs119461974
NM_002076.4(GNS):c.1225C>T (p.Arg409Ter) rs2539505252
NM_002076.4(GNS):c.1249C>T (p.Gln417Ter) rs2136237909
NM_002076.4(GNS):c.1327_1328del (p.Val443fs)
NM_002076.4(GNS):c.1393C>T (p.Gln465Ter)
NM_002076.4(GNS):c.252+1G>T rs368414819
NM_002076.4(GNS):c.257_258del (p.Val86fs) rs1355457071
NM_002076.4(GNS):c.587del (p.Gly196fs)
NM_002076.4(GNS):c.802del (p.Trp268fs)
NM_002103.5(GYS1):c.1111C>T (p.Arg371Trp)
NM_002103.5(GYS1):c.324C>G (p.Ile108Met) rs5455
NM_002294.3(LAMP2):c.*1243A>G rs147825361
NM_002294.3(LAMP2):c.581C>A (p.Thr194Asn) rs1033442580
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser) rs1288096114
NM_002294.3(LAMP2):c.742-7_742-5del rs779710402
NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_002500.5(NEUROD1):c.1019C>T (p.Ser340Leu)
NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val) rs774325551
NM_002500.5(NEUROD1):c.113A>G (p.Lys38Arg)
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=) rs116321775
NM_002500.5(NEUROD1):c.136A>G (p.Met46Val)
NM_002500.5(NEUROD1):c.189T>C (p.Asp63=) rs2105595687
NM_002500.5(NEUROD1):c.19G>A (p.Glu7Lys)
NM_002500.5(NEUROD1):c.205G>A (p.Glu69Lys)
NM_002500.5(NEUROD1):c.222GGA[1] (p.Glu75del) rs1190828671
NM_002500.5(NEUROD1):c.254G>A (p.Gly85Asp)
NM_002500.5(NEUROD1):c.260A>G (p.Lys87Arg) rs758515206
NM_002500.5(NEUROD1):c.278A>C (p.Lys93Thr)
NM_002500.5(NEUROD1):c.284G>A (p.Arg95His) rs1559135426
NM_002500.5(NEUROD1):c.29T>C (p.Leu10Pro) rs142156702
NM_002500.5(NEUROD1):c.301T>A (p.Leu101Met)
NM_002500.5(NEUROD1):c.310A>C (p.Met104Leu)
NM_002500.5(NEUROD1):c.425C>G (p.Thr142Ser)
NM_002500.5(NEUROD1):c.451T>C (p.Trp151Arg)
NM_002500.5(NEUROD1):c.487C>T (p.Pro163Ser) rs1225264254
NM_002500.5(NEUROD1):c.542C>T (p.Thr181Ile)
NM_002500.5(NEUROD1):c.603G>C (p.Gln201His)
NM_002500.5(NEUROD1):c.614C>A (p.Pro205His) rs560115414
NM_002500.5(NEUROD1):c.616C>A (p.His206Asn) rs201174472
NM_002500.5(NEUROD1):c.616C>G (p.His206Asp) rs201174472
NM_002500.5(NEUROD1):c.620T>C (p.Leu207Pro) rs2468610018
NM_002500.5(NEUROD1):c.631A>G (p.Ser211Gly)
NM_002500.5(NEUROD1):c.714T>G (p.His238Gln) rs770828405
NM_002500.5(NEUROD1):c.715G>A (p.Val239Ile)
NM_002500.5(NEUROD1):c.722A>C (p.His241Pro)
NM_002500.5(NEUROD1):c.733C>A (p.Pro245Thr)
NM_002500.5(NEUROD1):c.790T>C (p.Cys264Arg)
NM_002500.5(NEUROD1):c.794C>G (p.Thr265Ser) rs1029071008
NM_002500.5(NEUROD1):c.827C>T (p.Pro276Leu)
NM_002500.5(NEUROD1):c.94G>A (p.Glu32Lys) rs773755753
NM_002500.5(NEUROD1):c.950T>C (p.Ile317Thr)
NM_002591.4(PCK1):c.1674C>T (p.Ile558=) rs115841045
NM_002637.4(PHKA1):c.1174C>T (p.Arg392Ter) rs1556299510
NM_002637.4(PHKA1):c.1345_1346del (p.Glu449fs) rs2147747770
NM_002637.4(PHKA1):c.1960+1G>T
NM_002637.4(PHKA1):c.2137+1G>A
NM_002637.4(PHKA1):c.3134C>A (p.Ser1045Ter)
NM_002863.5(PYGL):c.1142del (p.Leu381fs)
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro) rs2050437440
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848
NM_002863.5(PYGL):c.2181C>G (p.Tyr727Ter)
NM_002863.5(PYGL):c.2254dup (p.Ser752fs)
NM_002863.5(PYGL):c.424+1G>C
NM_003041.4(SLC5A2):c.1004G>A (p.Ser335Asn)
NM_003041.4(SLC5A2):c.1029G>A (p.Val343=)
NM_003041.4(SLC5A2):c.103C>G (p.Leu35Val)
NM_003041.4(SLC5A2):c.1048G>A (p.Val350Met)
NM_003041.4(SLC5A2):c.1066G>A (p.Gly356Ser)
NM_003041.4(SLC5A2):c.1068C>T (p.Gly356=)
NM_003041.4(SLC5A2):c.1076T>C (p.Val359Ala)
NM_003041.4(SLC5A2):c.1114A>G (p.Lys372Glu)
NM_003041.4(SLC5A2):c.1117C>G (p.Leu373Val)
NM_003041.4(SLC5A2):c.1129+3A>C
NM_003041.4(SLC5A2):c.1130-1G>A
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del) rs770588592
NM_003041.4(SLC5A2):c.1157T>C (p.Met386Thr)
NM_003041.4(SLC5A2):c.115G>A (p.Val39Ile)
NM_003041.4(SLC5A2):c.1171A>G (p.Met391Val)
NM_003041.4(SLC5A2):c.1175C>T (p.Ser392Phe)
NM_003041.4(SLC5A2):c.1184C>T (p.Ala395Val)
NM_003041.4(SLC5A2):c.1205G>A (p.Ser402Asn)
NM_003041.4(SLC5A2):c.1235G>A (p.Arg412His)
NM_003041.4(SLC5A2):c.1253G>C (p.Gly418Ala)
NM_003041.4(SLC5A2):c.1262_1280dup (p.Leu428fs)
NM_003041.4(SLC5A2):c.1281-2A>G
NM_003041.4(SLC5A2):c.1319G>A (p.Trp440Ter)
NM_003041.4(SLC5A2):c.1339G>T (p.Ala447Ser)
NM_003041.4(SLC5A2):c.1343A>G (p.Gln448Arg)
NM_003041.4(SLC5A2):c.1361del (p.Asp454fs)
NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu) rs2082529261
NM_003041.4(SLC5A2):c.1420_1434dup (p.Pro478_Arg479insAlaLeuPheValPro)
NM_003041.4(SLC5A2):c.1429G>C (p.Val477Leu)
NM_003041.4(SLC5A2):c.1450-1G>A
NM_003041.4(SLC5A2):c.1470C>G (p.Ile490Met)
NM_003041.4(SLC5A2):c.1475G>T (p.Gly492Val)
NM_003041.4(SLC5A2):c.1481T>A (p.Leu494Gln)
NM_003041.4(SLC5A2):c.1495C>A (p.Arg499Ser)
NM_003041.4(SLC5A2):c.1509G>C (p.Glu503Asp)
NM_003041.4(SLC5A2):c.1524G>A (p.Ser508=)
NM_003041.4(SLC5A2):c.1525G>A (p.Gly509Ser)
NM_003041.4(SLC5A2):c.1540C>T (p.Pro514Ser)
NM_003041.4(SLC5A2):c.1552_1573dup (p.His525fs) rs987447860
NM_003041.4(SLC5A2):c.1566C>A (p.Cys522Ter) rs199795513
NM_003041.4(SLC5A2):c.1576T>C (p.Tyr526His)
NM_003041.4(SLC5A2):c.1577A>G (p.Tyr526Cys)
NM_003041.4(SLC5A2):c.158G>A (p.Gly53Asp)
NM_003041.4(SLC5A2):c.1591A>G (p.Ile531Val)
NM_003041.4(SLC5A2):c.1601TCT[1] (p.Phe535del)
NM_003041.4(SLC5A2):c.1616T>G (p.Leu539Arg) rs751122798
NM_003041.4(SLC5A2):c.1628C>T (p.Thr543Met)
NM_003041.4(SLC5A2):c.1629G>A (p.Thr543=)
NM_003041.4(SLC5A2):c.1647G>C (p.Ala549=)
NM_003041.4(SLC5A2):c.164A>C (p.Tyr55Ser)
NM_003041.4(SLC5A2):c.1652T>C (p.Ile551Thr) rs772983040
NM_003041.4(SLC5A2):c.1658G>T (p.Arg553Ile)
NM_003041.4(SLC5A2):c.1665C>G (p.His555Gln)
NM_003041.4(SLC5A2):c.1673G>A (p.Arg558His)
NM_003041.4(SLC5A2):c.167T>G (p.Phe56Cys)
NM_003041.4(SLC5A2):c.1691G>A (p.Arg564Gln)
NM_003041.4(SLC5A2):c.1711del (p.Glu571fs)
NM_003041.4(SLC5A2):c.1753G>C (p.Val585Leu)
NM_003041.4(SLC5A2):c.17A>T (p.Glu6Val)
NM_003041.4(SLC5A2):c.1822C>T (p.Arg608Cys)
NM_003041.4(SLC5A2):c.1837T>C (p.Trp613Arg)
NM_003041.4(SLC5A2):c.1851G>A (p.Met617Ile)
NM_003041.4(SLC5A2):c.1862G>C (p.Gly621Ala)
NM_003041.4(SLC5A2):c.1895_1900dup (p.Ala633_Ala634insGluAla)
NM_003041.4(SLC5A2):c.1901C>T (p.Ala634Val)
NM_003041.4(SLC5A2):c.190T>C (p.Trp64Arg)
NM_003041.4(SLC5A2):c.1944C>G (p.Ser648Arg)
NM_003041.4(SLC5A2):c.1951C>G (p.Arg651Gly)
NM_003041.4(SLC5A2):c.198+6A>G
NM_003041.4(SLC5A2):c.1990G>A (p.Ala664Thr)
NM_003041.4(SLC5A2):c.2T>C (p.Met1Thr)
NM_003041.4(SLC5A2):c.313G>A (p.Val105Met)
NM_003041.4(SLC5A2):c.333G>A (p.Trp111Ter)
NM_003041.4(SLC5A2):c.364G>T (p.Val122Phe)
NM_003041.4(SLC5A2):c.368T>C (p.Ile123Thr)
NM_003041.4(SLC5A2):c.381G>T (p.Gln127His)
NM_003041.4(SLC5A2):c.394C>A (p.Arg132Ser) rs768579234
NM_003041.4(SLC5A2):c.394C>T (p.Arg132Cys)
NM_003041.4(SLC5A2):c.409C>T (p.Arg137Cys)
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) rs1378076282
NM_003041.4(SLC5A2):c.439C>T (p.Leu147Phe)
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu) rs146552221
NM_003041.4(SLC5A2):c.453C>G (p.Ile151Met)
NM_003041.4(SLC5A2):c.47A>G (p.Gln16Arg)
NM_003041.4(SLC5A2):c.524A>C (p.Tyr175Ser)
NM_003041.4(SLC5A2):c.526G>A (p.Ala176Thr)
NM_003041.4(SLC5A2):c.532G>A (p.Val178Ile)
NM_003041.4(SLC5A2):c.541C>T (p.Leu181Phe)
NM_003041.4(SLC5A2):c.554C>T (p.Thr185Ile)
NM_003041.4(SLC5A2):c.556A>G (p.Met186Val)
NM_003041.4(SLC5A2):c.566C>T (p.Thr189Met)
NM_003041.4(SLC5A2):c.567G>A (p.Thr189=)
NM_003041.4(SLC5A2):c.629G>C (p.Gly210Ala)
NM_003041.4(SLC5A2):c.634G>A (p.Ala212Thr)
NM_003041.4(SLC5A2):c.648G>A (p.Met216Ile)
NM_003041.4(SLC5A2):c.650G>A (p.Gly217Asp)
NM_003041.4(SLC5A2):c.656-3C>T
NM_003041.4(SLC5A2):c.67C>A (p.Pro23Thr)
NM_003041.4(SLC5A2):c.739G>T (p.Ala247Ser)
NM_003041.4(SLC5A2):c.773C>G (p.Pro258Arg)
NM_003041.4(SLC5A2):c.793C>G (p.Leu265Val)
NM_003041.4(SLC5A2):c.802C>T (p.His268Tyr)
NM_003041.4(SLC5A2):c.819T>G (p.Asp273Glu)
NM_003041.4(SLC5A2):c.843C>A (p.Leu281=) rs1221617003
NM_003041.4(SLC5A2):c.845G>A (p.Gly282Glu)
NM_003041.4(SLC5A2):c.885+15C>T
NM_003041.4(SLC5A2):c.886-13G>T
NM_003041.4(SLC5A2):c.889A>T (p.Ile297Phe)
NM_003041.4(SLC5A2):c.892G>A (p.Val298Met)
NM_003041.4(SLC5A2):c.917G>A (p.Ser306Asn)
NM_003041.4(SLC5A2):c.923C>G (p.Thr308Ser)
NM_003041.4(SLC5A2):c.935C>T (p.Ala312Val)
NM_003041.4(SLC5A2):c.962A>G (p.Lys321Arg)
NM_003041.4(SLC5A2):c.983T>G (p.Met328Arg)
NM_003041.4(SLC5A2):c.996C>T (p.Gly332=)
NM_003051.4(SLC16A1):c.362-58TATT[8] rs149491709
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del) rs794727029
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs) rs1566721633
NM_003384.3(VRK1):c.1094del (p.Ser365fs) rs2139845854
NM_003384.3(VRK1):c.1144dup (p.Glu382fs) rs2504252308
NM_003384.3(VRK1):c.287-2A>G
NM_003384.3(VRK1):c.3dup (p.Pro2fs)
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter) rs762979613
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.882del (p.Asn294fs)
NM_003384.3(VRK1):c.883_886del (p.Lys295fs) rs779282547
NM_003477.3(PDHX):c.1182+2T>C
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_003477.3(PDHX):c.657_669del (p.Val220fs)
NM_003477.3(PDHX):c.711dup (p.Thr238fs) rs776567343
NM_003477.3(PDHX):c.798_800delinsCGGACAACCCAATGCAGTGGTAGTGT (p.Gly273fs) rs2494721611
NM_003597.5(KLF11):c.-31G>A rs886054721
NM_003597.5(KLF11):c.1037G>T (p.Gly346Val) rs964899969
NM_003597.5(KLF11):c.1050G>A (p.Pro350=) rs145193520
NM_003597.5(KLF11):c.1120G>A (p.Val374Met)
NM_003597.5(KLF11):c.42+18C>G rs1476684022
NM_003597.5(KLF11):c.870C>T (p.Ile290=) rs149235463
NM_003805.5(CRADD):c.21A>G (p.Gln7=)
NM_003805.5(CRADD):c.285dup (p.Asp96fs) rs1555213545
NM_003805.5(CRADD):c.393G>A (p.Trp131Ter) rs2540635374
NM_003805.5(CRADD):c.50del (p.Gly17fs) rs1207931375
NM_004130.4(GYG1):c.452A>T (p.His151Leu) rs35054019
NM_004130.4(GYG1):c.671A>G (p.Tyr224Cys)
NM_004563.4(PCK2):c.1469-3dup rs61497654
NM_004830.4(MED23):c.2062A>G (p.Ile688Val)
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg) rs2133788907
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys) rs56275071
NM_005327.7(HADH):c.132+1G>A
NM_005566.4(LDHA):c.136_137delinsCT (p.Asp46Leu)
NM_005566.4(LDHA):c.146C>A (p.Ala49Asp)
NM_005566.4(LDHA):c.207C>G (p.Ser69Arg)
NM_005566.4(LDHA):c.217A>G (p.Arg73Gly)
NM_005566.4(LDHA):c.328G>A (p.Val110Ile)
NM_005566.4(LDHA):c.32A>G (p.Asn11Ser)
NM_005566.4(LDHA):c.334C>T (p.Arg112Cys) rs199521486
NM_005566.4(LDHA):c.371T>C (p.Val124Ala)
NM_005566.4(LDHA):c.454G>C (p.Gly152Arg)
NM_005566.4(LDHA):c.470G>A (p.Arg157His) rs368815124
NM_005566.4(LDHA):c.476T>C (p.Ile159Thr)
NM_005566.4(LDHA):c.512G>A (p.Arg171His)
NM_005566.4(LDHA):c.53C>G (p.Thr18Ser) rs537487381
NM_005566.4(LDHA):c.53C>T (p.Thr18Ile) rs537487381
NM_005566.4(LDHA):c.550A>G (p.Ser184Gly)
NM_005566.4(LDHA):c.556C>T (p.His186Tyr)
NM_005566.4(LDHA):c.686_687del (p.Glu229fs)
NM_005566.4(LDHA):c.710+1del
NM_005566.4(LDHA):c.711-6A>T
NM_005566.4(LDHA):c.778G>C (p.Ala260Pro)
NM_005566.4(LDHA):c.796A>C (p.Asn266His)
NM_005566.4(LDHA):c.809T>C (p.Val270Ala)
NM_005566.4(LDHA):c.823A>T (p.Thr275Ser)
NM_005566.4(LDHA):c.940G>C (p.Ala314Pro)
NM_005566.4(LDHA):c.965C>T (p.Thr322Ile)
NM_005609.4(PYGM):c.1000-16_1000-9del
NM_005609.4(PYGM):c.1005del (p.Ile336fs)
NM_005609.4(PYGM):c.100C>A (p.Arg34=) rs531748591
NM_005609.4(PYGM):c.1022C>A (p.Thr341Asn)
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys) rs2496659888
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter) rs2058377004
NM_005609.4(PYGM):c.1145C>T (p.Pro382Leu)
NM_005609.4(PYGM):c.1195C>T (p.Arg399Trp)
NM_005609.4(PYGM):c.119_120del (p.Leu40fs)
NM_005609.4(PYGM):c.1220T>G (p.Ile407Ser)
NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys) rs764712114
NM_005609.4(PYGM):c.1240C>T (p.Arg414Trp) rs11231866
NM_005609.4(PYGM):c.125del (p.Lys42fs) rs2496675458
NM_005609.4(PYGM):c.1265_1275del (p.Asp422fs)
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) rs750700202
NM_005609.4(PYGM):c.1331A>G (p.His444Arg)
NM_005609.4(PYGM):c.1346G>A (p.Gly449Glu)
NM_005609.4(PYGM):c.1346G>C (p.Gly449Ala)
NM_005609.4(PYGM):c.1404-1G>C
NM_005609.4(PYGM):c.1406T>C (p.Phe469Ser)
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.1468C>G (p.Arg490Gly)
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter) rs2496655165
NM_005609.4(PYGM):c.1477C>A (p.Leu493Met)
NM_005609.4(PYGM):c.1495G>A (p.Gly499Arg)
NM_005609.4(PYGM):c.1519-2A>G
NM_005609.4(PYGM):c.152ACT[2] (p.Tyr53del) rs1325298827
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs) rs2058363627
NM_005609.4(PYGM):c.1614G>A (p.Val538=) rs747854789
NM_005609.4(PYGM):c.1620+1G>A rs1256894448
NM_005609.4(PYGM):c.1620G>T (p.Gln540His)
NM_005609.4(PYGM):c.1621-11T>G
NM_005609.4(PYGM):c.1629G>T (p.Lys543Asn)
NM_005609.4(PYGM):c.1639G>T (p.Ala547Ser)
NM_005609.4(PYGM):c.164_168del (p.Ala55fs) rs780193588
NM_005609.4(PYGM):c.1722T>A (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1744C>T (p.Leu582Phe)
NM_005609.4(PYGM):c.1810G>C (p.Val604Leu)
NM_005609.4(PYGM):c.1827+1G>C rs1057517442
NM_005609.4(PYGM):c.1846A>G (p.Met616Val)
NM_005609.4(PYGM):c.1913G>A (p.Gly638Asp)
NM_005609.4(PYGM):c.1969+1G>A rs753181427
NM_005609.4(PYGM):c.1969G>T (p.Val657Leu)
NM_005609.4(PYGM):c.1970-1G>C
NM_005609.4(PYGM):c.199C>T (p.Arg67Cys)
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.1_12del (p.Met1_Pro4del)
NM_005609.4(PYGM):c.2009C>A (p.Ala670Glu)
NM_005609.4(PYGM):c.2040_2041insCC (p.Lys681fs)
NM_005609.4(PYGM):c.2042A>T (p.Lys681Met)
NM_005609.4(PYGM):c.2044T>C (p.Phe682Leu)
NM_005609.4(PYGM):c.2049G>C (p.Met683Ile)
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter) rs1057516349
NM_005609.4(PYGM):c.2075_2076delinsAAA (p.Thr692fs)
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu) rs773543072
NM_005609.4(PYGM):c.2086G>A (p.Ala696Thr)
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.212C>G (p.Thr71Arg) rs377713922
NM_005609.4(PYGM):c.212C>T (p.Thr71Met)
NM_005609.4(PYGM):c.2177+1G>A rs751875471
NM_005609.4(PYGM):c.2177+1G>T rs751875471
NM_005609.4(PYGM):c.2178G>T (p.Gly726=)
NM_005609.4(PYGM):c.2219G>A (p.Arg740Gln)
NM_005609.4(PYGM):c.2255C>T (p.Ser752Phe)
NM_005609.4(PYGM):c.2259dup (p.Lys754fs) rs1565531453
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2275_2282del (p.Phe759fs) rs2496639193
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln) rs754822104
NM_005609.4(PYGM):c.2281G>A (p.Asp761Asn)
NM_005609.4(PYGM):c.2284A>G (p.Ile762Val)
NM_005609.4(PYGM):c.2291A>G (p.Asn764Ser)
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp) rs369382075
NM_005609.4(PYGM):c.2312G>T (p.Arg771Leu)
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs) rs1565531128
NM_005609.4(PYGM):c.2380-1G>A rs1555133248
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.2422_2423dup (p.Ser809fs)
NM_005609.4(PYGM):c.243+1G>T
NM_005609.4(PYGM):c.243+20G>T
NM_005609.4(PYGM):c.2430C>T (p.Gly810=)
NM_005609.4(PYGM):c.2501G>A (p.Arg834His)
NM_005609.4(PYGM):c.2512C>G (p.Pro838Ala) rs775376390
NM_005609.4(PYGM):c.285G>T (p.Thr95=)
NM_005609.4(PYGM):c.298A>T (p.Met100Leu)
NM_005609.4(PYGM):c.316G>C (p.Glu106Gln)
NM_005609.4(PYGM):c.358A>G (p.Met120Val)
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.424+5G>A
NM_005609.4(PYGM):c.458T>G (p.Leu153Arg) rs2135840127
NM_005609.4(PYGM):c.471C>G (p.Gly157=)
NM_005609.4(PYGM):c.484T>C (p.Tyr162His)
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg) rs141265458
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp) rs1555136375
NM_005609.4(PYGM):c.529-4G>A
NM_005609.4(PYGM):c.548G>A (p.Trp183Ter)
NM_005609.4(PYGM):c.578C>T (p.Ala193Val)
NM_005609.4(PYGM):c.658_659del (p.Gln220fs) rs766199191
NM_005609.4(PYGM):c.660+1G>A rs1555136208
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005609.4(PYGM):c.664G>C (p.Val222Leu)
NM_005609.4(PYGM):c.679_686dup (p.Pro230fs)
NM_005609.4(PYGM):c.682G>A (p.Asp228Asn)
NM_005609.4(PYGM):c.682G>C (p.Asp228His)
NM_005609.4(PYGM):c.690dup (p.Val231fs)
NM_005609.4(PYGM):c.7C>G (p.Arg3Gly)
NM_005609.4(PYGM):c.855+3G>A
NM_005609.4(PYGM):c.858C>A (p.Phe286Leu)
NM_005609.4(PYGM):c.878G>A (p.Arg293Gln)
NM_005609.4(PYGM):c.968T>C (p.Val323Ala)
NM_005609.4(PYGM):c.999+6A>G
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs) rs1131691331
NM_005883.3(APC2):c.2372C>T (p.Ala791Val)
NM_005883.3(APC2):c.2518_2523dup (p.Ala841_Lys842insAlaAla)
NM_005883.3(APC2):c.4616G>C (p.Arg1539Pro) rs367655515
NM_005883.3(APC2):c.5123G>T (p.Arg1708Leu)
NM_005883.3(APC2):c.5872G>C (p.Gly1958Arg)
NM_005908.4(MANBA):c.1064C>G (p.Ser355Ter)
NM_005908.4(MANBA):c.1452_1453del (p.Tyr485fs) rs764364492
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_005908.4(MANBA):c.1726T>A (p.Ser576Thr) rs1560748334
NM_005908.4(MANBA):c.1867C>T (p.Gln623Ter)
NM_005908.4(MANBA):c.1990C>T (p.Gln664Ter)
NM_005908.4(MANBA):c.2053C>T (p.Gln685Ter)
NM_005908.4(MANBA):c.210_213delinsTCTGTAGTTAAGAGACCCATCTG (p.Arg71delinsLeuTer) rs2476919187
NM_005908.4(MANBA):c.2175dup (p.Ser726fs) rs771465504
NM_005908.4(MANBA):c.2346_2349delinsTTCAG (p.Pro784fs)
NM_005908.4(MANBA):c.519G>T (p.Lys173Asn)
NM_005908.4(MANBA):c.549+1G>A rs1334537145
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter) rs1732439983
NM_005908.4(MANBA):c.850_851del (p.Asn284fs)
NM_005908.4(MANBA):c.916del (p.Leu306fs) rs1198947705
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn) rs1365012948
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.1407G>T (p.Gln469His)
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_006721.4(ADK):c.-10_4del (p.Met1fs)
NM_006721.4(ADK):c.2T>C (p.Met1Thr)
NM_006721.4(ADK):c.569_570del (p.Thr190fs)
NM_006721.4(ADK):c.66-23876T>A
NM_012203.2(GRHPR):c.-4_-3delinsAT rs796052077
NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter) rs2489231890
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.113A>G (p.Glu38Gly)
NM_012203.2(GRHPR):c.143G>A (p.Gly48Asp)
NM_012203.2(GRHPR):c.145G>A (p.Val49Met)
NM_012203.2(GRHPR):c.154del (p.Ala52fs) rs751101495
NM_012203.2(GRHPR):c.157C>G (p.His53Asp)
NM_012203.2(GRHPR):c.160G>A (p.Gly54Ser) rs756085471
NM_012203.2(GRHPR):c.199A>C (p.Ile67Leu)
NM_012203.2(GRHPR):c.214+2T>G rs1057517398
NM_012203.2(GRHPR):c.215-4A>G
NM_012203.2(GRHPR):c.256G>C (p.Asp86His)
NM_012203.2(GRHPR):c.271del (p.Asp91fs) rs1823058034
NM_012203.2(GRHPR):c.272A>G (p.Asp91Gly)
NM_012203.2(GRHPR):c.286_287+1del rs750079140
NM_012203.2(GRHPR):c.334G>A (p.Ala112Thr)
NM_012203.2(GRHPR):c.390C>T (p.Ile130=) rs752869610
NM_012203.2(GRHPR):c.419C>T (p.Ser140Leu)
NM_012203.2(GRHPR):c.44T>C (p.Ile15Thr)
NM_012203.2(GRHPR):c.461G>C (p.Ser154Thr)
NM_012203.2(GRHPR):c.488G>A (p.Arg163His)
NM_012203.2(GRHPR):c.494-2A>G rs1823266560
NM_012203.2(GRHPR):c.516_532dup (p.Gln178fs) rs2489243051
NM_012203.2(GRHPR):c.52G>A (p.Glu18Lys)
NM_012203.2(GRHPR):c.593_594del (p.Glu198fs) rs1588757756
NM_012203.2(GRHPR):c.597del (p.Phe199fs) rs1057516292
NM_012203.2(GRHPR):c.599-6C>G
NM_012203.2(GRHPR):c.601T>C (p.Ser201Pro) rs886063930
NM_012203.2(GRHPR):c.61G>A (p.Val21Ile)
NM_012203.2(GRHPR):c.61del (p.Val21fs)
NM_012203.2(GRHPR):c.628G>A (p.Asp210Asn)
NM_012203.2(GRHPR):c.70G>C (p.Ala24Pro)
NM_012203.2(GRHPR):c.740_743delinsGCGA (p.Asp247_Val248delinsGlyAsp)
NM_012203.2(GRHPR):c.782G>T (p.Gly261Val)
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter) rs1554748534
NM_012203.2(GRHPR):c.83+3A>G
NM_012203.2(GRHPR):c.83+5G>C
NM_012203.2(GRHPR):c.851C>A (p.Thr284Asn)
NM_012203.2(GRHPR):c.858G>T (p.Lys286Asn)
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.8C>T (p.Pro3Leu)
NM_012203.2(GRHPR):c.931AAC[3] (p.Asn312_Leu313insAsn)
NM_012203.2(GRHPR):c.951_969del (p.Arg318fs)
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs) rs1554749672
NM_012203.2(GRHPR):c.955G>A (p.Gly319Arg)
NM_012203.2(GRHPR):c.97C>T (p.Gln33Ter) rs2489231853
NM_012203.2(GRHPR):c.98A>G (p.Gln33Arg)
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_012434.5(SLC17A5):c.110C>T (p.Ser37Phe)
NM_012434.5(SLC17A5):c.1111+1G>T rs777862172
NM_012434.5(SLC17A5):c.1112-8A>C rs1581962639
NM_012434.5(SLC17A5):c.1118T>C (p.Ile373Thr)
NM_012434.5(SLC17A5):c.1119T>G (p.Ile373Met)
NM_012434.5(SLC17A5):c.1123C>T (p.Pro375Ser)
NM_012434.5(SLC17A5):c.1238A>G (p.Asn413Ser)
NM_012434.5(SLC17A5):c.1260G>C (p.Ser420=) rs760766672
NM_012434.5(SLC17A5):c.1414A>G (p.Ile472Val)
NM_012434.5(SLC17A5):c.144dup (p.Gly49fs) rs1562000876
NM_012434.5(SLC17A5):c.16C>T (p.Arg6Ter)
NM_012434.5(SLC17A5):c.175A>G (p.Asn59Asp)
NM_012434.5(SLC17A5):c.179T>C (p.Leu60Pro)
NM_012434.5(SLC17A5):c.1A>T (p.Met1Leu) rs1304456183
NM_012434.5(SLC17A5):c.1del (p.Met1*) rs2150128117
NM_012434.5(SLC17A5):c.229A>G (p.Asn77Asp) rs1281494685
NM_012434.5(SLC17A5):c.244G>C (p.Ala82Pro) rs199727701
NM_012434.5(SLC17A5):c.262G>A (p.Ala88Thr)
NM_012434.5(SLC17A5):c.281A>G (p.His94Arg)
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter) rs2533519854
NM_012434.5(SLC17A5):c.294_310del rs1192927951
NM_012434.5(SLC17A5):c.307T>C (p.Trp103Arg)
NM_012434.5(SLC17A5):c.394A>C (p.Lys132Gln)
NM_012434.5(SLC17A5):c.418G>T (p.Gly140Ter)
NM_012434.5(SLC17A5):c.421T>C (p.Phe141Leu) rs779264733
NM_012434.5(SLC17A5):c.431T>G (p.Leu144Arg)
NM_012434.5(SLC17A5):c.4del (p.Arg2fs)
NM_012434.5(SLC17A5):c.501_502del (p.Arg168fs)
NM_012434.5(SLC17A5):c.525+3A>G rs768885202
NM_012434.5(SLC17A5):c.525+4A>G
NM_012434.5(SLC17A5):c.525+6T>C
NM_012434.5(SLC17A5):c.543dup (p.Met182fs)
NM_012434.5(SLC17A5):c.558G>A (p.Trp186Ter)
NM_012434.5(SLC17A5):c.575C>G (p.Pro192Arg)
NM_012434.5(SLC17A5):c.575dup (p.Leu193fs)
NM_012434.5(SLC17A5):c.57_72del (p.Thr20fs)
NM_012434.5(SLC17A5):c.59C>A (p.Thr20Lys)
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) rs1769021763
NM_012434.5(SLC17A5):c.677G>A (p.Trp226Ter)
NM_012434.5(SLC17A5):c.694_695delinsC (p.Phe232fs)
NM_012434.5(SLC17A5):c.71C>T (p.Pro24Leu)
NM_012434.5(SLC17A5):c.724_727del (p.Leu242fs)
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter) rs755923873
NM_012434.5(SLC17A5):c.775T>C (p.Ser259Pro)
NM_012434.5(SLC17A5):c.77C>A (p.Ala26Asp)
NM_012434.5(SLC17A5):c.782A>G (p.Tyr261Cys)
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter) rs2533490979
NM_012434.5(SLC17A5):c.802T>C (p.Ser268Pro)
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012434.5(SLC17A5):c.819G>T (p.Gln273His)
NM_012434.5(SLC17A5):c.829C>T (p.Gln277Ter) rs1768174708
NM_012434.5(SLC17A5):c.872T>A (p.Leu291His)
NM_012434.5(SLC17A5):c.905del (p.Asn302fs) rs771156053
NM_012434.5(SLC17A5):c.94G>T (p.Ala32Ser)
NM_012434.5(SLC17A5):c.979-1G>T rs2533429751
NM_012434.5(SLC17A5):c.985T>C (p.Phe329Leu)
NM_013276.4(SHPK):c.495-19dup rs140922564
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs) rs749829859
NM_014704.4(CEP104):c.2088_2091del (p.Glu697fs)
NM_014704.4(CEP104):c.2111G>T (p.Gly704Val)
NM_014704.4(CEP104):c.2151+2T>C
NM_014704.4(CEP104):c.2188+1G>T
NM_014704.4(CEP104):c.2286del (p.Glu762fs) rs751734367
NM_014704.4(CEP104):c.2361del (p.Lys787fs)
NM_014704.4(CEP104):c.2365-2A>G
NM_014704.4(CEP104):c.346G>A (p.Val116Ile)
NM_014704.4(CEP104):c.735+1G>T
NM_014704.4(CEP104):c.808A>T (p.Lys270Ter)
NM_014704.4(CEP104):c.968C>G (p.Ser323Ter)
NM_014806.5(RUSC2):c.3720GGAAGA[1] (p.Glu1245_Glu1246del) rs145749994
NM_016042.4(EXOSC3):c.155del (p.Pro52fs) rs886041316
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs) rs1398939540
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val) rs773436764
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs) rs672601331
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs) rs2489890979
NM_016042.4(EXOSC3):c.325-1G>A
NM_016042.4(EXOSC3):c.394dup (p.Asp132fs)
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.460del (p.Arg154fs)
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser) rs1589061488
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter) rs149049356
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer) rs1160669103
NM_016042.4(EXOSC3):c.627-1G>C
NM_016042.4(EXOSC3):c.638_639del (p.Pro213fs)
NM_016042.4(EXOSC3):c.672_673del (p.Tyr225fs)
NM_016203.4(PRKAG2):c.1106+19del rs374874465
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg) rs727504337
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu) rs375174733
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp) rs1832796232
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) rs397517277
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val) rs543247293
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile) rs397517282
NM_016203.4(PRKAG2):c.904C>G (p.Arg302Gly)
NM_016219.5(MAN1B1):c.2011C>T (p.Leu671Phe)
NM_017721.5(CC2D1A):c.1061dup (p.Arg355fs) rs2513094283
NM_017721.5(CC2D1A):c.1117_1121dup (p.Lys374fs)
NM_017721.5(CC2D1A):c.1403C>G (p.Ser468Ter)
NM_017721.5(CC2D1A):c.1468+1G>C
NM_017721.5(CC2D1A):c.1528C>T (p.Arg510Ter)
NM_017721.5(CC2D1A):c.179_180insCA (p.Glu60fs) rs1970938126
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala) rs77389229
NM_017721.5(CC2D1A):c.2710+1G>A rs2513147217
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter) rs1377452635
NM_017755.6(NSUN2):c.37C>T (p.Gln13Ter)
NM_018117.12(WDR11):c.3226G>A (p.Ala1076Thr)
NM_018297.4(NGLY1):c.-17_12del (p.Met1fs) rs765492483
NM_018297.4(NGLY1):c.-18_14dup (p.Leu6fs) rs762131179
NM_018297.4(NGLY1):c.1162_1163del (p.Thr388fs)
NM_018297.4(NGLY1):c.1260+1G>A
NM_018297.4(NGLY1):c.1722_1723insCA (p.Thr575fs) rs2125442902
NM_018297.4(NGLY1):c.177del (p.Ala60fs) rs2125321733
NM_018297.4(NGLY1):c.1891del (p.Gln631fs) rs587776982
NM_018297.4(NGLY1):c.276dup (p.Ala93fs)
NM_018297.4(NGLY1):c.29C>G (p.Ser10Ter)
NM_018297.4(NGLY1):c.34dup (p.Ser12fs)
NM_018297.4(NGLY1):c.39del (p.Ser14fs) rs1553666033
NM_018297.4(NGLY1):c.636del (p.Arg213fs)
NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter) rs772994617
NM_018444.4(PDP1):c.48dup (p.Leu17fs)
NM_018444.4(PDP1):c.500dup (p.Leu167fs) rs1810312864
NM_020066.5(FMN2):c.3324TCC[1] (p.Pro1112del) rs780903069
NM_021956.5(GRIK2):c.1939A>T (p.Ile647Phe)
NM_021956.5(GRIK2):c.368A>G (p.Asn123Ser)
NM_021957.4(GYS2):c.122-8_186delinsATCAGA rs2136913413
NM_021957.4(GYS2):c.439C>T (p.Arg147Ter)
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) rs150382575
NM_021957.4(GYS2):c.729C>A (p.Cys243Ter)
NM_021957.4(GYS2):c.948del (p.Asp317fs)
NM_024298.5(MBOAT7):c.-1587C>G rs145947907
NM_024298.5(MBOAT7):c.864G>C (p.Lys288Asn)
NM_024989.4(PGAP1):c.1273-17dup rs3835877
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs) rs730880329
NM_033159.4(HYAL1):c.110_134dup (p.Arg46fs) rs782271243
NM_033159.4(HYAL1):c.156_161delinsC (p.Val53fs)
NM_033159.4(HYAL1):c.221dup (p.Tyr75fs) rs1450097579
NM_033159.4(HYAL1):c.663_670dup (p.Gly224fs) rs1702197212
NM_033159.4(HYAL1):c.674_676delinsCTGTGCCCAAAATGTGCCCATCAGGTCATCA (p.Ile225fs)
NM_033159.4(HYAL1):c.81del (p.Asn29fs) rs781974681
NM_033159.4(HYAL1):c.872_873del (p.Phe290_Tyr291insTer)
NM_033159.4(HYAL1):c.900+1G>A rs2470849538
NM_053013.4(ENO3):c.789G>C (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.789delinsATCC (p.Ser263dup) rs1567672833
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.131C>T (p.Thr44Ile)
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) rs764396564
NM_138413.4(HOGA1):c.158del (p.Asp53fs) rs796052091
NM_138413.4(HOGA1):c.166A>T (p.Lys56Ter)
NM_138413.4(HOGA1):c.212-9C>G rs1589907586
NM_138413.4(HOGA1):c.223C>T (p.Gln75Ter)
NM_138413.4(HOGA1):c.28G>A (p.Val10Met)
NM_138413.4(HOGA1):c.337G>C (p.Glu113Gln)
NM_138413.4(HOGA1):c.340+1G>C rs759407659
NM_138413.4(HOGA1):c.344C>G (p.Thr115Ser) rs2041094955
NM_138413.4(HOGA1):c.346C>T (p.Gln116Ter) rs767405535
NM_138413.4(HOGA1):c.34C>T (p.Gln12Ter)
NM_138413.4(HOGA1):c.402G>T (p.Met134Ile)
NM_138413.4(HOGA1):c.403G>C (p.Val135Leu)
NM_138413.4(HOGA1):c.413del (p.Pro138fs) rs777683624
NM_138413.4(HOGA1):c.423T>A (p.Tyr141Ter)
NM_138413.4(HOGA1):c.468+12G>T
NM_138413.4(HOGA1):c.488T>C (p.Ile163Thr)
NM_138413.4(HOGA1):c.502T>C (p.Tyr168His)
NM_138413.4(HOGA1):c.518A>G (p.Asn173Ser)
NM_138413.4(HOGA1):c.603+1G>A rs2135722313
NM_138413.4(HOGA1):c.624_627del (p.Val209fs)
NM_138413.4(HOGA1):c.633del (p.Thr212fs)
NM_138413.4(HOGA1):c.656T>A (p.Val219Glu)
NM_138413.4(HOGA1):c.70G>A (p.Val24Ile)
NM_138413.4(HOGA1):c.70G>C (p.Val24Leu)
NM_138413.4(HOGA1):c.713dup (p.Val239fs) rs760930050
NM_138413.4(HOGA1):c.724dup (p.Leu242fs)
NM_138413.4(HOGA1):c.733G>C (p.Val245Leu)
NM_138413.4(HOGA1):c.805C>T (p.Gln269Ter)
NM_138413.4(HOGA1):c.834+2T>C rs947352856
NM_138413.4(HOGA1):c.842G>A (p.Arg281Gln)
NM_138413.4(HOGA1):c.860G>A (p.Gly287Glu) rs138207257
NM_138413.4(HOGA1):c.863T>G (p.Leu288Arg)
NM_138413.4(HOGA1):c.876G>A (p.Met292Ile)
NM_138413.4(HOGA1):c.880T>A (p.Trp294Arg)
NM_138413.4(HOGA1):c.89G>T (p.Gly30Val) rs759795758
NM_138413.4(HOGA1):c.905G>C (p.Cys302Ser)
NM_138413.4(HOGA1):c.907C>G (p.Arg303Gly) rs149150736
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del) rs750736378
NM_138413.4(HOGA1):c.937G>A (p.Glu313Lys)
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138413.4(HOGA1):c.944A>C (p.Glu315Ala)
NM_138413.4(HOGA1):c.944A>G (p.Glu315Gly)
NM_138413.4(HOGA1):c.974G>T (p.Gly325Val)
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter) rs756420301
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_152419.3(HGSNAT):c.119-2A>C
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs) rs759057396
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1565_1577del (p.Thr522fs)
NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter) rs1586698317
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg) rs1563386838
NM_152419.3(HGSNAT):c.208dup (p.Tyr70fs)
NM_152419.3(HGSNAT):c.272del (p.Pro91fs) rs1803166641
NM_152419.3(HGSNAT):c.321_324dup (p.Ser109fs)
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys) rs1803172725
NM_152419.3(HGSNAT):c.494-2A>G rs2486918870
NM_152419.3(HGSNAT):c.525dup (p.Val176fs) rs483352895
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=) rs1563366828
NM_152419.3(HGSNAT):c.61dup (p.Ala21fs)
NM_152419.3(HGSNAT):c.65del (p.Leu22fs)
NM_152419.3(HGSNAT):c.698dup (p.Ser234fs) rs2486963476
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu) rs727503962
NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter) rs777146364
NM_175914.5(HNF4A):c.*145T>A rs200905283
NM_175914.5(HNF4A):c.10G>A (p.Val4Met)
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.1196C>T (p.Pro399Leu)
NM_175914.5(HNF4A):c.1208G>A (p.Gly403Glu)
NM_175914.5(HNF4A):c.1208G>T (p.Gly403Val)
NM_175914.5(HNF4A):c.1217-1G>A
NM_175914.5(HNF4A):c.124G>A (p.Gly42Arg) rs769007443
NM_175914.5(HNF4A):c.1250G>A (p.Gly417Asp)
NM_175914.5(HNF4A):c.1312C>A (p.Leu438Ile)
NM_175914.5(HNF4A):c.1331C>T (p.Pro444Leu)
NM_175914.5(HNF4A):c.1348G>A (p.Glu450Lys)
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.199C>A (p.Arg67=)
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.203A>G (p.Lys68Arg)
NM_175914.5(HNF4A):c.212T>G (p.Met71Arg)
NM_175914.5(HNF4A):c.287A>G (p.Lys96Arg)
NM_175914.5(HNF4A):c.28G>C (p.Ala10Pro)
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913
NM_175914.5(HNF4A):c.427-1G>A rs1568731279
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val) rs368759794
NM_175914.5(HNF4A):c.461T>G (p.Ile154Ser)
NM_175914.5(HNF4A):c.463C>G (p.Arg155Gly)
NM_175914.5(HNF4A):c.463C>T (p.Arg155Trp)
NM_175914.5(HNF4A):c.534G>T (p.Glu178Asp)
NM_175914.5(HNF4A):c.577G>A (p.Asp193Asn)
NM_175914.5(HNF4A):c.583-19T>A
NM_175914.5(HNF4A):c.643A>G (p.Met215Val) rs1381499581
NM_175914.5(HNF4A):c.655G>A (p.Asp219Asn)
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.702G>A (p.Pro234=)
NM_175914.5(HNF4A):c.707T>G (p.Leu236Arg)
NM_175914.5(HNF4A):c.716T>C (p.Met239Thr)
NM_175914.5(HNF4A):c.912C>A (p.Arg304=) rs760811566
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992
NM_175914.5(HNF4A):c.991G>A (p.Glu331Lys) rs759399251
NM_175914.5(HNF4A):c.999C>G (p.Ile333Met)
NM_181503.3(EXOSC8):c.55-10_55-9del rs144158336
NM_213606.4(SLC16A12):c.-29_3del (p.Met1fs)
NM_213606.4(SLC16A12):c.1024A>G (p.Arg342Gly)
NM_213606.4(SLC16A12):c.1027A>G (p.Arg343Gly)
NM_213606.4(SLC16A12):c.108A>T (p.Arg36Ser)
NM_213606.4(SLC16A12):c.1091A>G (p.Tyr364Cys)
NM_213606.4(SLC16A12):c.1117C>G (p.Leu373Val)
NM_213606.4(SLC16A12):c.1129G>C (p.Val377Leu)
NM_213606.4(SLC16A12):c.1147T>C (p.Phe383Leu)
NM_213606.4(SLC16A12):c.1240G>A (p.Val414Ile)
NM_213606.4(SLC16A12):c.1255G>A (p.Ala419Thr)
NM_213606.4(SLC16A12):c.1255G>T (p.Ala419Ser)
NM_213606.4(SLC16A12):c.1354T>C (p.Phe452Leu)
NM_213606.4(SLC16A12):c.1456A>G (p.Thr486Ala)
NM_213606.4(SLC16A12):c.1466C>T (p.Ser489Leu)
NM_213606.4(SLC16A12):c.172G>A (p.Val58Ile)
NM_213606.4(SLC16A12):c.187C>T (p.Arg63Trp)
NM_213606.4(SLC16A12):c.200+3A>G
NM_213606.4(SLC16A12):c.227T>A (p.Phe76Tyr)
NM_213606.4(SLC16A12):c.236_239del (p.Tyr79fs)
NM_213606.4(SLC16A12):c.278T>C (p.Ile93Thr)
NM_213606.4(SLC16A12):c.305C>T (p.Ala102Val)
NM_213606.4(SLC16A12):c.320T>C (p.Val107Ala)
NM_213606.4(SLC16A12):c.332A>G (p.His111Arg)
NM_213606.4(SLC16A12):c.364G>A (p.Gly122Ser)
NM_213606.4(SLC16A12):c.374C>T (p.Ala125Val)
NM_213606.4(SLC16A12):c.410G>A (p.Ser137Asn)
NM_213606.4(SLC16A12):c.438A>T (p.Gly146=)
NM_213606.4(SLC16A12):c.43A>G (p.Ile15Val)
NM_213606.4(SLC16A12):c.442C>T (p.Leu148Phe)
NM_213606.4(SLC16A12):c.484G>A (p.Ala162Thr)
NM_213606.4(SLC16A12):c.538A>G (p.Met180Val)
NM_213606.4(SLC16A12):c.554T>C (p.Ile185Thr)
NM_213606.4(SLC16A12):c.586C>G (p.Leu196Val)
NM_213606.4(SLC16A12):c.620T>A (p.Leu207Ter)
NM_213606.4(SLC16A12):c.724T>G (p.Cys242Gly)
NM_213606.4(SLC16A12):c.737A>G (p.Lys246Arg)
NM_213606.4(SLC16A12):c.742G>C (p.Asp248His)
NM_213606.4(SLC16A12):c.766T>C (p.Ser256Pro)
NM_213606.4(SLC16A12):c.784T>C (p.Trp262Arg)
NM_213606.4(SLC16A12):c.809G>A (p.Cys270Tyr)
NM_213606.4(SLC16A12):c.859G>C (p.Ala287Pro)
NM_213606.4(SLC16A12):c.862G>A (p.Val288Ile) rs145964337
NM_213606.4(SLC16A12):c.862G>C (p.Val288Leu)
NM_213606.4(SLC16A12):c.900_901del (p.Phe301fs) rs1564568302

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