ClinVar Miner

List of variants studied for Monogenic diabetes

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ClinVar version:
Total variants: 1126
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_001042413.2(GLIS3):c.2686C>T (p.Leu896Phe) rs76094493 0.03919
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu) rs115116507 0.03600
NM_002711.4(PPP1R3A):c.1880G>A (p.Arg627Lys) rs35067467 0.03347
NM_000458.4(HNF1B):c.*47T>G rs8068014 0.02908
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_173560.4(RFX6):c.50C>A (p.Ala17Glu) rs9489056 0.02675
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02654
NM_000230.3(LEP):c.280G>A (p.Val94Met) rs17151919 0.02565
NM_001807.6(CEL):c.1454T>C (p.Ile485Thr) rs77696629 0.02562
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_002711.4(PPP1R3A):c.2649G>T (p.Arg883Ser) rs1800000 0.02352
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061 0.02260
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853 0.02251
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_001109809.5(ZFP57):c.593A>G (p.Asn198Ser) rs9461544 0.02078
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_001807.6(CEL):c.353T>G (p.Leu118Arg) rs113056079 0.01720
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_001042413.2(GLIS3):c.1536C>A (p.Asp512Glu) rs148199056 0.01645
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) rs8192556 0.01580
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01533
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_173560.4(RFX6):c.1327C>T (p.His443Tyr) rs77146142 0.01320
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala) rs35154632 0.01104
NM_002666.5(PLIN1):c.466G>T (p.Val156Leu) rs111663599 0.01084
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_002303.6(LEPR):c.2096C>T (p.Thr699Met) rs34499590 0.01048
NM_002711.4(PPP1R3A):c.1183T>G (p.Ser395Ala) rs62001864 0.01000
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_001109809.5(ZFP57):c.937A>G (p.Arg313Gly) rs61730327 0.00987
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605 0.00906
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915 0.00891
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_002666.5(PLIN1):c.692G>T (p.Arg231Leu) rs114583540 0.00826
NM_002711.4(PPP1R3A):c.1835G>A (p.Gly612Glu) rs76910192 0.00825
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_001042413.2(GLIS3):c.1126C>T (p.Pro376Ser) rs76342955 0.00811
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_002711.4(PPP1R3A):c.1714A>G (p.Ile572Val) rs35398707 0.00796
NM_002711.4(PPP1R3A):c.3259A>G (p.Ile1087Val) rs77456357 0.00795
NM_002711.4(PPP1R3A):c.3044A>G (p.Asn1015Ser) rs149701175 0.00793
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879 0.00758
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166 0.00663
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) rs142417583 0.00634
NM_002666.5(PLIN1):c.812C>T (p.Ala271Val) rs58361219 0.00633
NM_002666.5(PLIN1):c.1139C>T (p.Ala380Val) rs146385147 0.00628
NM_002711.4(PPP1R3A):c.133G>A (p.Gly45Ser) rs8192687 0.00595
NM_002666.5(PLIN1):c.1043C>T (p.Ser348Leu) rs8179071 0.00586
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_001715.3(BLK):c.335T>C (p.Phe112Ser) rs115068920 0.00517
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_002711.4(PPP1R3A):c.1915G>T (p.Gly639Cys) rs61756423 0.00493
NM_001807.6(CEL):c.1619G>A (p.Arg540His) rs201012268 0.00487
NM_001109809.5(ZFP57):c.112C>T (p.Arg38Trp) rs114772002 0.00482
NM_173560.4(RFX6):c.2176C>G (p.Arg726Gly) rs144648002 0.00436
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) rs535090775 0.00423
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863 0.00345
NM_003597.5(KLF11):c.410A>G (p.Asp137Gly) rs145933214 0.00328
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_001042413.2(GLIS3):c.1318A>G (p.Thr440Ala) rs80161424 0.00314
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699 0.00307
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308 0.00302
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs) rs527638422 0.00279
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_002666.5(PLIN1):c.902C>T (p.Thr301Met) rs74407840 0.00243
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_001042413.2(GLIS3):c.2089G>A (p.Val697Met) rs148816140 0.00229
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_173560.4(RFX6):c.2399G>C (p.Gly800Ala) rs138343620 0.00225
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_001109809.5(ZFP57):c.1033G>C (p.Ala345Pro) rs200537697 0.00211
NM_001109809.5(ZFP57):c.475A>T (p.Thr159Ser) rs201703858 0.00211
NM_001109809.5(ZFP57):c.532T>C (p.Tyr178His) rs146835830 0.00210
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr) rs148572278 0.00199
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) rs200135768 0.00197
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_002711.4(PPP1R3A):c.2640A>T (p.Arg880Ser) rs115322623 0.00194
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) rs35573508 0.00192
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln) rs150096859 0.00188
NM_006412.4(AGPAT2):c.340C>T (p.Arg114Cys) rs142145391 0.00186
NM_001109809.5(ZFP57):c.491G>A (p.Arg164Gln) rs200541066 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly) rs148168366 0.00178
NM_002711.4(PPP1R3A):c.2267C>T (p.Pro756Leu) rs151310594 0.00173
NM_003597.5(KLF11):c.782C>T (p.Pro261Leu) rs148123124 0.00170
NM_001042413.2(GLIS3):c.1090C>T (p.Pro364Ser) rs143056249 0.00165
NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His) rs138497710 0.00163
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys) rs146238335 0.00163
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685 0.00160
NM_001109809.5(ZFP57):c.1472C>G (p.Thr491Ser) rs184974475 0.00159
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233 0.00158
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg) rs114782902 0.00155
NM_002711.4(PPP1R3A):c.2990T>G (p.Phe997Cys) rs35572169 0.00154
NM_002666.5(PLIN1):c.245C>T (p.Thr82Ile) rs150004289 0.00153
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00151
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro) rs146115506 0.00143
NM_138711.6(PPARG):c.913G>C (p.Val305Leu) rs139894525 0.00135
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00130
NM_173560.4(RFX6):c.2369G>A (p.Gly790Glu) rs57924353 0.00124
NM_000208.4(INSR):c.2575C>T (p.His859Tyr) rs149536206 0.00123
NM_005068.3(SIM1):c.383T>C (p.Ile128Thr) rs138546433 0.00122
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys) rs146799286 0.00122
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_002711.4(PPP1R3A):c.1217A>C (p.Glu406Ala) rs138812345 0.00111
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys) rs146081967 0.00111
NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu) rs61729285 0.00106
NM_005068.3(SIM1):c.1864T>C (p.Ser622Pro) rs141415931 0.00105
NM_000545.8(HNF1A):c.1722C>A (p.Ser574Arg) rs141304623 0.00103
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_002711.4(PPP1R3A):c.628C>T (p.Arg210Cys) rs141223649 0.00102
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00097
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148 0.00093
NM_173560.4(RFX6):c.2561C>T (p.Ser854Leu) rs201522681 0.00093
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr) rs151176879 0.00091
NM_002711.4(PPP1R3A):c.2885G>A (p.Gly962Asp) rs148408134 0.00090
NM_003597.5(KLF11):c.1205G>A (p.Arg402Gln) rs34762805 0.00088
NM_001042413.2(GLIS3):c.793G>T (p.Val265Phe) rs143192828 0.00087
NM_005257.6(GATA6):c.533C>T (p.Ala178Val) rs387906815 0.00087
NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu) rs142248792 0.00085
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu) rs61734338 0.00083
NM_001042413.2(GLIS3):c.1199A>G (p.His400Arg) rs376031632 0.00081
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450 0.00079
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) rs144699575 0.00079
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys) rs144792551 0.00074
NM_002666.5(PLIN1):c.838C>T (p.Arg280Trp) rs146721183 0.00073
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr) rs145685060 0.00069
NM_005257.6(GATA6):c.592C>G (p.Leu198Val) rs387906814 0.00068
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) rs139185707 0.00068
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00064
NM_001042413.2(GLIS3):c.2095C>T (p.Arg699Cys) rs145867412 0.00062
NM_002303.6(LEPR):c.3247A>G (p.Thr1083Ala) rs149329546 0.00062
NM_002666.5(PLIN1):c.107G>T (p.Cys36Phe) rs140081686 0.00062
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile) rs1800572 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_005327.7(HADH):c.710-845C>G rs201019894 0.00060
NM_005068.3(SIM1):c.2119G>C (p.Asp707His) rs74726213 0.00058
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353 0.00057
NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn) rs142143966 0.00055
NM_002303.6(LEPR):c.658G>A (p.Val220Ile) rs148349369 0.00054
NM_173560.4(RFX6):c.62C>A (p.Ser21Tyr) rs146773792 0.00053
NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu) rs147959014 0.00052
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779 0.00050
NM_173560.4(RFX6):c.268G>A (p.Ala90Thr) rs377721888 0.00049
NM_001366110.1(PAX4):c.932C>T (p.Pro311Leu) rs142426878 0.00048
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_003597.5(KLF11):c.953T>G (p.Leu318Arg) rs144431930 0.00048
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) rs745857330 0.00047
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe) rs140676897 0.00043
NM_005912.3(MC4R):c.719A>G (p.Asn240Ser) rs202228712 0.00043
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072 0.00041
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro) rs149569288 0.00039
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 0.00037
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961 0.00036
NM_006005.3(WFS1):c.1610G>A (p.Cys537Tyr) rs199910987 0.00034
NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile) rs148239625 0.00034
NM_002711.4(PPP1R3A):c.297C>A (p.Phe99Leu) rs115949425 0.00033
NM_002666.5(PLIN1):c.814G>A (p.Val272Met) rs145476436 0.00032
NM_005257.6(GATA6):c.352C>T (p.Leu118Phe) rs368297251 0.00032
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) rs141233896 0.00032
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_000208.4(INSR):c.224A>G (p.Asp75Gly) rs142910337 0.00029
NM_002303.6(LEPR):c.2698A>G (p.Ile900Val) rs142647085 0.00029
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) rs142671083 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383 0.00029
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_002711.4(PPP1R3A):c.3260T>G (p.Ile1087Arg) rs139484221 0.00026
NM_006412.4(AGPAT2):c.230G>A (p.Arg77His) rs375796317 0.00024
NM_001042413.2(GLIS3):c.2096G>A (p.Arg699His) rs149840771 0.00023
NM_002303.6(LEPR):c.430G>T (p.Val144Leu) rs147667928 0.00023
NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg) rs201293992 0.00023
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_002711.4(PPP1R3A):c.2822T>C (p.Met941Thr) rs138771673 0.00021
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907 0.00021
NM_006005.3(WFS1):c.2563T>C (p.Ser855Pro) rs141833472 0.00021
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys) rs145651189 0.00020
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) rs112967046 0.00020
NM_006412.4(AGPAT2):c.461C>A (p.Ala154Asp) rs150530734 0.00020
NM_001042413.2(GLIS3):c.1154G>T (p.Gly385Val) rs200959196 0.00019
NM_002711.4(PPP1R3A):c.2972G>A (p.Arg991Lys) rs374950521 0.00019
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) rs373862003 0.00019
NM_006412.4(AGPAT2):c.208T>G (p.Phe70Val) rs140995132 0.00019
NM_175914.5(HNF4A):c.724G>A (p.Val242Met) rs139779712 0.00019
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln) rs372563916 0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001042413.2(GLIS3):c.1330C>T (p.Pro444Ser) rs755318788 0.00016
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) rs149466797 0.00016
NM_005068.3(SIM1):c.2107C>T (p.Arg703Trp) rs532142781 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) rs147724970 0.00016
NM_000545.8(HNF1A):c.-258A>G rs756136537 0.00015
NM_001042413.2(GLIS3):c.275C>T (p.Thr92Ile) rs375931960 0.00015
NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val) rs766276341 0.00014
NM_001042413.2(GLIS3):c.2339G>A (p.Arg780Gln) rs200694226 0.00013
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302 0.00013
NM_178161.3(PTF1A):c.960C>A (p.Asn320Lys) rs181911810 0.00013
NM_001042413.2(GLIS3):c.106G>A (p.Gly36Arg) rs199788224 0.00012
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu) rs200368564 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660 0.00011
NM_001753.5(CAV1):c.500T>C (p.Phe167Ser) rs201966419 0.00011
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 0.00011
NM_000209.4(PDX1):c.28G>A (p.Ala10Thr) rs936474667 0.00010
NM_000545.8(HNF1A):c.185A>G (p.Asn62Ser) rs377129682 0.00010
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu) rs191277311 0.00010
NM_005068.3(SIM1):c.1720A>G (p.Met574Val) rs150382307 0.00010
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile) rs121909741 0.00009
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys) rs772222326 0.00009
NM_000545.8(HNF1A):c.225C>T (p.Asp75=) rs202180554 0.00009
NM_001042413.2(GLIS3):c.24G>T (p.Met8Ile) rs201804281 0.00009
NM_175914.5(HNF4A):c.408G>A (p.Ala136=) rs374298096 0.00009
NM_175914.5(HNF4A):c.427-5C>T rs374703326 0.00009
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_002711.4(PPP1R3A):c.1040T>C (p.Val347Ala) rs372606055 0.00008
NM_178161.3(PTF1A):c.265C>A (p.Leu89Ile) rs1162744670 0.00008
NM_000545.8(HNF1A):c.42G>A (p.Ala14=) rs775391034 0.00007
NM_001807.6(CEL):c.709A>G (p.Ile237Val) rs368907057 0.00007
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930 0.00006
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile) rs146855738 0.00006
NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser) rs151256267 0.00006
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr) rs757364858 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001807.6(CEL):c.860C>T (p.Thr287Met) rs773990119 0.00006
NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu) rs539891019 0.00006
NM_005068.3(SIM1):c.1649G>A (p.Arg550His) rs137870558 0.00006
NM_005327.7(HADH):c.361G>A (p.Val121Met) rs377615662 0.00006
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys) rs181988441 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_022895.3(C12orf43):c.*2570C>G rs868177605 0.00006
NM_175914.5(HNF4A):c.321C>T (p.Ala107=) rs138290205 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 0.00006
NM_000545.8(HNF1A):c.1816G>A (p.Gly606Ser) rs753972576 0.00005
NM_175914.5(HNF4A):c.*4G>A rs193922468 0.00005
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln) rs202073574 0.00005
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val) rs140143857 0.00005
NM_000162.5(GCK):c.203G>A (p.Gly68Asp) rs373418736 0.00004
NM_000162.5(GCK):c.646G>A (p.Glu216Lys) rs778550411 0.00004
NM_000545.8(HNF1A):c.1383C>T (p.Pro461=) rs772756175 0.00004
NM_001042413.2(GLIS3):c.31C>T (p.His11Tyr) rs773069755 0.00004
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro) rs553406974 0.00004
NM_002711.4(PPP1R3A):c.2821A>G (p.Met941Val) rs772082412 0.00004
NM_006005.3(WFS1):c.20C>T (p.Pro7Leu) rs138165486 0.00004
NM_178161.3(PTF1A):c.283G>C (p.Gly95Arg) rs962887931 0.00004
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000162.5(GCK):c.142G>A (p.Glu48Lys) rs759514960 0.00003
NM_000209.4(PDX1):c.719C>G (p.Pro240Arg) rs753881947 0.00003
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00003
NM_000545.8(HNF1A):c.-6C>T rs779387337 0.00003
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) rs373180062 0.00003
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044 0.00003
NM_000545.8(HNF1A):c.30G>A (p.Thr10=) rs746020457 0.00003
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met) rs150513055 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn) rs200718841 0.00003
NM_001715.3(BLK):c.67T>C (p.Trp23Arg) rs574731221 0.00003
NM_005327.7(HADH):c.47C>T (p.Ser16Phe) rs374248298 0.00003
NM_005572.4(LMNA):c.1712G>A (p.Arg571His) rs200917748 0.00003
NM_005912.3(MC4R):c.31A>G (p.Thr11Ala) rs372794914 0.00003
NM_173560.4(RFX6):c.2412C>G (p.Ser804Arg) rs751261241 0.00003
NM_175914.5(HNF4A):c.1017C>T (p.Phe339=) rs142268325 0.00003
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000162.5(GCK):c.1285A>C (p.Arg429=) rs140672134 0.00002
NM_000340.2(SLC2A2):c.10G>C (p.Asp4His) rs200073044 0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly) rs375644184 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000545.8(HNF1A):c.1504C>G (p.Leu502Val) rs924150546 0.00002
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr) rs137853246 0.00002
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg) rs193922589 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000545.8(HNF1A):c.833G>A (p.Arg278Gln) rs760640415 0.00002
NM_001042413.2(GLIS3):c.2704C>T (p.Arg902Cys) rs1407324725 0.00002
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His) rs1057524897 0.00002
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val) rs773630367 0.00002
NM_002666.5(PLIN1):c.991C>T (p.Leu331Phe) rs759726625 0.00002
NM_006005.3(WFS1):c.1896G>T (p.Met632Ile) rs1057524890 0.00002
NM_006412.4(AGPAT2):c.455T>C (p.Val152Ala) rs1230993149 0.00002
NM_006996.3(SLC19A2):c.1276G>A (p.Val426Ile) rs1231702573 0.00002
NM_138711.6(PPARG):c.1295A>G (p.Lys432Arg) rs756523051 0.00002
NM_170707.4(LMNA):c.1504G>A (p.Ala502Thr) rs1215424724 0.00002
NM_175914.5(HNF4A):c.131G>A (p.Arg44Gln) rs561302824 0.00002
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe) rs193922260 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.605T>C (p.Met202Thr) rs193922311 0.00001
NM_000162.5(GCK):c.622G>A (p.Ala208Thr) rs1476637197 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.823C>T (p.Arg275Cys) rs556436603 0.00001
NM_000162.5(GCK):c.824G>A (p.Arg275His) rs767565869 0.00001
NM_000208.4(INSR):c.2564G>A (p.Gly855Asp) rs201667363 0.00001
NM_000209.4(PDX1):c.208G>A (p.Val70Met) rs1234749777 0.00001
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile) rs775776658 0.00001
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471 0.00001
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673 0.00001
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) rs193922401 0.00001
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020 0.00001
NM_000458.4(HNF1B):c.1630A>G (p.Thr544Ala) rs1352906725 0.00001
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530 0.00001
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His) rs745379486 0.00001
NM_000545.8(HNF1A):c.-187C>T rs970766228 0.00001
NM_000545.8(HNF1A):c.-218T>C rs1024131753 0.00001
NM_000545.8(HNF1A):c.1136C>G (p.Pro379Arg) rs371717826 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 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.1521C>A (p.Pro507=) rs977750039 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587 0.00001
NM_000545.8(HNF1A):c.1768G>A (p.Val590Met) rs1168108747 0.00001
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr) rs200120574 0.00001
NM_000545.8(HNF1A):c.1780A>G (p.Ser594Gly) rs751112023 0.00001
NM_000545.8(HNF1A):c.1824C>G (p.Ser608Arg) rs1877445147 0.00001
NM_000545.8(HNF1A):c.1896A>G (p.Ter632=) rs587778395 0.00001
NM_000545.8(HNF1A):c.203G>A (p.Arg68Gln) rs188085301 0.00001
NM_000545.8(HNF1A):c.257T>A (p.Leu86His) rs200442958 0.00001
NM_000545.8(HNF1A):c.50T>A (p.Leu17His) rs1480672278 0.00001
NM_000545.8(HNF1A):c.557T>C (p.Ile186Thr) rs587778396 0.00001
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln) rs893256143 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000545.8(HNF1A):c.766T>A (p.Ser256Thr) rs781711191 0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183 0.00001
NM_001042413.2(GLIS3):c.1973C>G (p.Ala658Gly) rs977500969 0.00001
NM_001042413.2(GLIS3):c.590A>T (p.Asp197Val) rs761151597 0.00001
NM_001122955.4(BSCL2):c.969G>T (p.Trp323Cys) rs1444410995 0.00001
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly) rs754439156 0.00001
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln) rs752714698 0.00001
NM_001378454.1(ALMS1):c.12295A>G (p.Arg4099Gly) rs1057524885 0.00001
NM_001378454.1(ALMS1):c.2212G>A (p.Glu738Lys) rs1057524883 0.00001
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu) rs377354387 0.00001
NM_001378454.1(ALMS1):c.6037G>T (p.Ala2013Ser) rs1057524884 0.00001
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly) rs768090632 0.00001
NM_001715.3(BLK):c.154C>A (p.Pro52Thr) rs375173243 0.00001
NM_001753.5(CAV1):c.43A>G (p.Thr15Ala) rs760934779 0.00001
NM_002303.6(LEPR):c.1139A>G (p.Gln380Arg) rs751025808 0.00001
NM_002303.6(LEPR):c.1292A>G (p.Asn431Ser) rs937591370 0.00001
NM_004836.7(EIF2AK3):c.833T>A (p.Phe278Tyr) rs756231274 0.00001
NM_005068.3(SIM1):c.1894C>T (p.His632Tyr) rs1486871541 0.00001
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.826G>A (p.Val276Ile) rs768726421 0.00001
NM_005912.3(MC4R):c.14C>A (p.Thr5Asn) rs752432398 0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551 0.00001
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) rs772393451 0.00001
NM_005912.3(MC4R):c.883T>C (p.Ser295Pro) rs368264587 0.00001
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) rs71526458 0.00001
NM_006005.3(WFS1):c.2570C>A (p.Thr857Asn) rs573202595 0.00001
NM_006005.3(WFS1):c.578A>G (p.Lys193Arg) rs1005714777 0.00001
NM_006412.4(AGPAT2):c.29C>G (p.Ala10Gly) rs1284278396 0.00001
NM_006996.3(SLC19A2):c.980G>T (p.Arg327Leu) rs756708244 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_175914.5(HNF4A):c.1069C>G (p.Pro357Ala) rs201319115 0.00001
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg) rs757897768 0.00001
NM_175914.5(HNF4A):c.123C>T (p.Cys41=) rs147552575 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.454G>A (p.Gly152Ser) rs760038979 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) rs145902391 0.00001
NM_175914.5(HNF4A):c.901A>G (p.Ile301Val) rs920346355 0.00001
NG_011731.2:g.4741A>C rs2135818776
NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC rs2096270755
NM_000162.5(GCK):c.-97G>A
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys) rs397514580
NM_000162.5(GCK):c.1016A>G (p.Glu339Gly) rs1057524903
NM_000162.5(GCK):c.1017G>C (p.Glu339Asp) rs954171452
NM_000162.5(GCK):c.1019+1G>A
NM_000162.5(GCK):c.1019+1G>T
NM_000162.5(GCK):c.1019+2T>G rs193929376
NM_000162.5(GCK):c.1019+5G>A
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1020-1G>A rs193922258
NM_000162.5(GCK):c.1020-1G>C rs193922258
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1030_1039del (p.Asp344fs)
NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer) rs1562713041
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro) rs1583592156
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1099G>A (p.Val367Met) rs1057521092
NM_000162.5(GCK):c.1099G>T (p.Val367Leu)
NM_000162.5(GCK):c.109A>G (p.Met37Val)
NM_000162.5(GCK):c.110T>A (p.Met37Lys)
NM_000162.5(GCK):c.110T>C (p.Met37Thr)
NM_000162.5(GCK):c.110T>G (p.Met37Arg)
NM_000162.5(GCK):c.1111T>C (p.Cys371Arg)
NM_000162.5(GCK):c.1112G>A (p.Cys371Tyr)
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) rs587780343
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) rs556581174
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp) rs556581174
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter) rs193922262
NM_000162.5(GCK):c.1120G>A (p.Val374Met) rs1415041911
NM_000162.5(GCK):c.1121T>A (p.Val374Glu)
NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)
NM_000162.5(GCK):c.1129C>T (p.Arg377Cys) rs1471992838
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu) rs193922264
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del) rs1131691505
NM_000162.5(GCK):c.1132G>A (p.Ala378Thr) rs104894016
NM_000162.5(GCK):c.1132G>C (p.Ala378Pro)
NM_000162.5(GCK):c.1133C>A (p.Ala378Asp)
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly) rs193929374
NM_000162.5(GCK):c.1133C>T (p.Ala378Val) rs193929374
NM_000162.5(GCK):c.1133_1149del (p.Ala378fs) rs1554334610
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.1136C>G (p.Ala379Gly) rs193922265
NM_000162.5(GCK):c.1136C>T (p.Ala379Val) rs193922265
NM_000162.5(GCK):c.1139A>C (p.His380Pro) rs2128819280
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.113A>T (p.Gln38Leu)
NM_000162.5(GCK):c.1142T>A (p.Met381Lys) rs193922266
NM_000162.5(GCK):c.1142T>C (p.Met381Thr)
NM_000162.5(GCK):c.1142T>G (p.Met381Arg) rs193922266
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg) rs1554334613
NM_000162.5(GCK):c.1144T>G (p.Cys382Gly)
NM_000162.5(GCK):c.1144del (p.Cys382fs)
NM_000162.5(GCK):c.1145G>A (p.Cys382Tyr) rs2096271616
NM_000162.5(GCK):c.1146C>A (p.Cys382Ter) rs1583591809
NM_000162.5(GCK):c.1147T>A (p.Ser383Thr)
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro) rs749298368
NM_000162.5(GCK):c.1148C>G (p.Ser383Trp)
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1148del (p.Ser383fs) rs2096271597
NM_000162.5(GCK):c.1159G>A (p.Ala387Thr)
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu) rs193921338
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1174C>A (p.Arg392Ser)
NM_000162.5(GCK):c.1174C>G (p.Arg392Gly) rs1167124132
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1175G>C (p.Arg392Pro)
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) rs193922269
NM_000162.5(GCK):c.1181G>C (p.Arg394Pro)
NM_000162.5(GCK):c.1181G>T (p.Arg394Leu) rs1235227560
NM_000162.5(GCK):c.1189C>G (p.Arg397Gly)
NM_000162.5(GCK):c.1189C>T (p.Arg397Cys)
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.5(GCK):c.122T>C (p.Met41Thr) rs1057524906
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.1240A>T (p.Lys414Ter)
NM_000162.5(GCK):c.1253+2T>A rs1057524902
NM_000162.5(GCK):c.1254-12_1257del
NM_000162.5(GCK):c.1254-13C>A
NM_000162.5(GCK):c.1254-1G>C
NM_000162.5(GCK):c.1254-1G>T
NM_000162.5(GCK):c.1254-2A>G
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu) rs1554334478
NM_000162.5(GCK):c.1255T>G (p.Phe419Val)
NM_000162.5(GCK):c.1256T>C (p.Phe419Ser)
NM_000162.5(GCK):c.1261del (p.Glu421fs)
NM_000162.5(GCK):c.1265_1273delinsTGCGAGCCACCTTCAT (p.Arg422fs)
NM_000162.5(GCK):c.1270C>T (p.His424Tyr)
NM_000162.5(GCK):c.1278_1279del (p.Val427fs) rs2128818859
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) rs193922274
NM_000162.5(GCK):c.127C>T (p.Arg43Cys) rs1486280029
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs) rs193922275
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)
NM_000162.5(GCK):c.1298_1309del (p.Ser433_Ile436del)
NM_000162.5(GCK):c.1302C>A (p.Cys434Ter)
NM_000162.5(GCK):c.1306A>T (p.Ile436Phe)
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000162.5(GCK):c.1312_1314del (p.Phe438del)
NM_000162.5(GCK):c.1313T>A (p.Phe438Tyr)
NM_000162.5(GCK):c.1317C>T (p.Ile439=) rs1554334455
NM_000162.5(GCK):c.1318G>T (p.Glu440Ter)
NM_000162.5(GCK):c.1319_1323dup (p.Glu442fs)
NM_000162.5(GCK):c.1322C>A (p.Ser441Ter)
NM_000162.5(GCK):c.1322C>G (p.Ser441Trp) rs1286804191
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter) rs1562711915
NM_000162.5(GCK):c.1331G>A (p.Gly444Asp)
NM_000162.5(GCK):c.1331dup (p.Ser445fs)
NM_000162.5(GCK):c.1332del (p.Ser445fs) rs193922280
NM_000162.5(GCK):c.1335_1345del (p.Arg447fs)
NM_000162.5(GCK):c.1339del (p.Arg447fs) rs1064795242
NM_000162.5(GCK):c.1339dup (p.Arg447fs)
NM_000162.5(GCK):c.1340_1368del (p.Arg447fs) rs1339598338
NM_000162.5(GCK):c.1343del (p.Gly448fs)
NM_000162.5(GCK):c.1344del (p.Ala449fs) rs1057524901
NM_000162.5(GCK):c.1346_1347del (p.Ala449fs)
NM_000162.5(GCK):c.1346_1362del (p.Ala449fs)
NM_000162.5(GCK):c.1348del (p.Ala450fs)
NM_000162.5(GCK):c.1351del (p.Leu451fs)
NM_000162.5(GCK):c.1358C>A (p.Ser453Ter)
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.1358_*127delinsT (p.Ser453fs)
NM_000162.5(GCK):c.1360del (p.Ala454fs) rs1583590393
NM_000162.5(GCK):c.1361C>A (p.Ala454Glu) rs1057524900
NM_000162.5(GCK):c.1361C>T (p.Ala454Val)
NM_000162.5(GCK):c.1363dup (p.Val455fs)
NM_000162.5(GCK):c.1368del (p.Cys457fs)
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs) rs193922284
NM_000162.5(GCK):c.1373_1376del (p.Lys458fs)
NM_000162.5(GCK):c.1373_1384del (p.Lys458_Cys461del)
NM_000162.5(GCK):c.1379_*2del (p.Ala460fs)
NM_000162.5(GCK):c.1391_1392del (p.Gly464fs)
NM_000162.5(GCK):c.1391del (p.Gly464fs)
NM_000162.5(GCK):c.1396T>C (p.Ter466Arg)
NM_000162.5(GCK):c.1398A>G (p.Ter466Trp)
NM_000162.5(GCK):c.1398A>T (p.Ter466Cys)
NM_000162.5(GCK):c.146C>A (p.Thr49Asn) rs193922286
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
NM_000162.5(GCK):c.184G>A (p.Val62Met) rs1064793998
NM_000162.5(GCK):c.185T>C (p.Val62Ala) rs1444739794
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.317_333del (p.Gln106fs) rs797045595
NM_000162.5(GCK):c.322T>C (p.Tyr108His) rs193922292
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp) rs193922292
NM_000162.5(GCK):c.323A>G (p.Tyr108Cys)
NM_000162.5(GCK):c.323A>T (p.Tyr108Phe)
NM_000162.5(GCK):c.324C>A (p.Tyr108Ter)
NM_000162.5(GCK):c.349G>C (p.Gly117Arg) rs748554061
NM_000162.5(GCK):c.350G>T (p.Gly117Val)
NM_000162.5(GCK):c.363+1G>A
NM_000162.5(GCK):c.363+2T>A
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.364C>G (p.Leu122Val) rs1554335616
NM_000162.5(GCK):c.365T>C (p.Leu122Pro)
NM_000162.5(GCK):c.370G>C (p.Asp124His) rs759072800
NM_000162.5(GCK):c.371A>T (p.Asp124Val) rs1554335612
NM_000162.5(GCK):c.377T>C (p.Ile126Thr) rs1562718220
NM_000162.5(GCK):c.389T>A (p.Ile130Asn)
NM_000162.5(GCK):c.389T>C (p.Ile130Thr)
NM_000162.5(GCK):c.3G>A (p.Met1Ile)
NM_000162.5(GCK):c.429G>T (p.Lys143Asn)
NM_000162.5(GCK):c.437T>C (p.Leu146Pro)
NM_000162.5(GCK):c.437T>G (p.Leu146Arg)
NM_000162.5(GCK):c.440G>A (p.Gly147Asp) rs193922296
NM_000162.5(GCK):c.442T>A (p.Phe148Ile) rs1554335582
NM_000162.5(GCK):c.443T>C (p.Phe148Ser)
NM_000162.5(GCK):c.449T>A (p.Phe150Tyr) rs193922297
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.449_451del (p.Phe150del)
NM_000162.5(GCK):c.450C>A (p.Phe150Leu)
NM_000162.5(GCK):c.45G>A (p.Lys15=)
NM_000162.5(GCK):c.461T>G (p.Val154Gly)
NM_000162.5(GCK):c.465G>T (p.Arg155Ser)
NM_000162.5(GCK):c.466C>T (p.His156Tyr) rs1562718043
NM_000162.5(GCK):c.483G>A (p.Lys161=) rs193922302
NM_000162.5(GCK):c.502A>C (p.Thr168Pro)
NM_000162.5(GCK):c.502A>G (p.Thr168Ala)
NM_000162.5(GCK):c.503C>A (p.Thr168Asn)
NM_000162.5(GCK):c.503C>T (p.Thr168Ile) rs2096278825
NM_000162.5(GCK):c.509_517dup (p.Lys172_Ala173insGlyPheLys)
NM_000162.5(GCK):c.521C>T (p.Ser174Leu)
NM_000162.5(GCK):c.523G>A (p.Gly175Arg) rs587780344
NM_000162.5(GCK):c.523G>C (p.Gly175Arg)
NM_000162.5(GCK):c.524G>A (p.Gly175Glu)
NM_000162.5(GCK):c.524G>C (p.Gly175Ala) rs2128821624
NM_000162.5(GCK):c.524G>T (p.Gly175Val)
NM_000162.5(GCK):c.53del (p.Gln18fs)
NM_000162.5(GCK):c.564_567dup (p.Lys190fs) rs2128821589
NM_000162.5(GCK):c.565A>G (p.Ile189Val)
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.567C>G (p.Ile189Met)
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.604A>G (p.Met202Val) rs193922310
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.617C>T (p.Thr206Met) rs1441649062
NM_000162.5(GCK):c.622G>C (p.Ala208Pro)
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.627_628delinsAG (p.Met210Val)
NM_000162.5(GCK):c.628A>G (p.Met210Val)
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.630G>A (p.Met210Ile)
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.658T>C (p.Cys220Arg) rs193922315
NM_000162.5(GCK):c.659G>T (p.Cys220Phe)
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.676G>C (p.Val226Leu)
NM_000162.5(GCK):c.677T>C (p.Val226Ala) rs193922319
NM_000162.5(GCK):c.679+3A>T
NM_000162.5(GCK):c.680-1G>A rs1057524905
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.683C>A (p.Thr228Lys)
NM_000162.5(GCK):c.683C>G (p.Thr228Arg)
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
NM_000162.5(GCK):c.689G>A (p.Cys230Tyr)
NM_000162.5(GCK):c.736G>A (p.Gly246Arg) rs2096275721
NM_000162.5(GCK):c.737G>A (p.Gly246Glu) rs1583596522
NM_000162.5(GCK):c.737G>C (p.Gly246Ala) rs1583596522
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.749G>A (p.Arg250His) rs370375148
NM_000162.5(GCK):c.749G>C (p.Arg250Pro)
NM_000162.5(GCK):c.74T>A (p.Leu25Gln) rs193922325
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.771G>A (p.Trp257Ter) rs2128820597
NM_000162.5(GCK):c.775G>A (p.Ala259Thr) rs1375656631
NM_000162.5(GCK):c.775G>T (p.Ala259Ser)
NM_000162.5(GCK):c.776C>T (p.Ala259Val) rs1554335132
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.781G>C (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.782G>A (p.Gly261Glu)
NM_000162.5(GCK):c.790G>A (p.Gly264Ser) rs193929373
NM_000162.5(GCK):c.797T>A (p.Leu266Gln)
NM_000162.5(GCK):c.797T>C (p.Leu266Pro)
NM_000162.5(GCK):c.802G>A (p.Glu268Lys) rs1554335111
NM_000162.5(GCK):c.808CTG[1] (p.Leu271del) rs2096275478
NM_000162.5(GCK):c.810_814del (p.Leu271fs)
NM_000162.5(GCK):c.823C>G (p.Arg275Gly)
NM_000162.5(GCK):c.824G>C (p.Arg275Pro)
NM_000162.5(GCK):c.824G>T (p.Arg275Leu) rs767565869
NM_000162.5(GCK):c.835G>C (p.Glu279Gln) rs104894005
NM_000162.5(GCK):c.883G>A (p.Gly295Ser) rs1554334905
NM_000162.5(GCK):c.883G>C (p.Gly295Arg)
NM_000162.5(GCK):c.884G>A (p.Gly295Asp) rs2096273902
NM_000162.5(GCK):c.884G>T (p.Gly295Val)
NM_000162.5(GCK):c.898G>A (p.Glu300Lys) rs1255911887
NM_000162.5(GCK):c.898G>C (p.Glu300Gln)
NM_000162.5(GCK):c.899A>G (p.Glu300Gly)
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000162.5(GCK):c.918_919delinsAT (p.Leu307Phe) rs1057524892
NM_000162.5(GCK):c.924del (p.Arg308fs)
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) rs193922340
NM_000162.5(GCK):c.976A>C (p.Thr326Pro)
NM_000162.5(GCK):c.982G>T (p.Gly328Ter)
NM_000207.3(INS):c.163C>T (p.Arg55Cys) rs121908261
NM_000207.3(INS):c.278A>G (p.Glu93Gly) rs1057524907
NM_000208.4(INSR):c.1459A>C (p.Lys487Gln) rs121913136
NM_000208.4(INSR):c.1741C>T (p.Arg581Trp) rs1555743340
NM_000209.4(PDX1):c.127_128insGCCG (p.Pro43fs) rs1957772748
NM_000209.4(PDX1):c.455C>T (p.Ala152Val) rs1355562073
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000209.4(PDX1):c.728C>G (p.Pro243Arg) rs1444351717
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000340.2(SLC2A2):c.971A>G (p.Tyr324Cys) rs1715394753
NM_000352.6(ABCC8):c.1127C>T (p.Ser376Phe) rs777461294
NM_000352.6(ABCC8):c.3817A>T (p.Arg1273Trp) rs1554906389
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser) rs763104338
NM_000352.6(ABCC8):c.4043A>G (p.Asn1348Ser) rs1554905775
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000458.4(HNF1B):c.1180A>G (p.Asn394Asp) rs2032897142
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.262A>G (p.Thr88Ala) rs1555833051
NM_000458.4(HNF1B):c.499G>C (p.Ala167Pro) rs757452269
NM_000525.4(KCNJ11):c.794G>T (p.Ser265Ile) rs1437510576
NM_000525.4(KCNJ11):c.902G>C (p.Arg301Pro) rs74339576
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) rs193922598
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000545.8(HNF1A):c.-187C>A rs970766228
NM_000545.8(HNF1A):c.-215A>G
NM_000545.8(HNF1A):c.1114G>A (p.Ala372Thr) rs587780356
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) rs193922576
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
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.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1137dup (p.Val380fs) rs2135845908
NM_000545.8(HNF1A):c.1168G>C (p.Glu390Gln) rs1877115047
NM_000545.8(HNF1A):c.121G>T (p.Glu41Ter) rs2135819670
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro) rs193922577
NM_000545.8(HNF1A):c.1295C>A (p.Ser432Tyr)
NM_000545.8(HNF1A):c.1295C>G (p.Ser432Cys)
NM_000545.8(HNF1A):c.1295C>T (p.Ser432Phe)
NM_000545.8(HNF1A):c.129_130delinsA (p.Leu44fs) rs2135819704
NM_000545.8(HNF1A):c.130del (p.Leu44fs) rs193922578
NM_000545.8(HNF1A):c.1359del (p.Ser454fs) rs1555212359
NM_000545.8(HNF1A):c.137A>C (p.Lys46Thr) rs2135819731
NM_000545.8(HNF1A):c.139G>A (p.Gly47Arg) rs373180062
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.8(HNF1A):c.142del (p.Glu48fs) rs1566092470
NM_000545.8(HNF1A):c.1481C>T (p.Ala494Val)
NM_000545.8(HNF1A):c.1489C>T (p.Gln497Ter) rs1555212396
NM_000545.8(HNF1A):c.14T>G (p.Leu5Arg) rs188016232
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.1501+1G>T rs1131692182
NM_000545.8(HNF1A):c.1501+5G>C rs1399164820
NM_000545.8(HNF1A):c.1505T>A (p.Leu502His) rs2135850526
NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs) rs193922582
NM_000545.8(HNF1A):c.152G>T (p.Gly51Val) rs776710848
NM_000545.8(HNF1A):c.1544C>A (p.Thr515Lys) rs745460046
NM_000545.8(HNF1A):c.1544C>T (p.Thr515Met) rs745460046
NM_000545.8(HNF1A):c.1548C>T (p.Gly516=) rs886038346
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.1576G>T (p.Asp526Tyr)
NM_000545.8(HNF1A):c.160C>T (p.Arg54Ter) rs766956862
NM_000545.8(HNF1A):c.1623+1G>A rs2135850957
NM_000545.8(HNF1A):c.1623+3A>G rs886038347
NM_000545.8(HNF1A):c.164_168del (p.Gly55fs) rs2135819834
NM_000545.8(HNF1A):c.169del (p.Leu57fs) rs193922588
NM_000545.8(HNF1A):c.16A>T (p.Ser6Cys) rs2135819349
NM_000545.8(HNF1A):c.1719del (p.Ser574fs) rs2135851518
NM_000545.8(HNF1A):c.1720_1733delinsGGCATCCAGCACC (p.Ser574fs) rs587778399
NM_000545.8(HNF1A):c.1768+11C>T rs886049034
NM_000545.8(HNF1A):c.1768+1G>A rs1877324101
NM_000545.8(HNF1A):c.1768+65dup rs193922590
NM_000545.8(HNF1A):c.1769-1G>A rs2135854372
NM_000545.8(HNF1A):c.1772_1773del (p.Ser591fs) rs2135854397
NM_000545.8(HNF1A):c.1780A>C (p.Ser594Arg) rs751112023
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile) rs2135854451
NM_000545.8(HNF1A):c.1786del (p.Val596fs) rs2135854461
NM_000545.8(HNF1A):c.17G>A (p.Ser6Asn) rs2135819354
NM_000545.8(HNF1A):c.1802del (p.Ser600_Ser601insTer) rs2135854520
NM_000545.8(HNF1A):c.1803dup (p.Asp602fs) rs2135854526
NM_000545.8(HNF1A):c.1819dup (p.Gln607fs) rs1555212747
NM_000545.8(HNF1A):c.1822_1823del (p.Ser608fs) rs2135854597
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr) rs2135854619
NM_000545.8(HNF1A):c.1840_1841del (p.Asn614fs) rs2135854670
NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile) rs137853241
NM_000545.8(HNF1A):c.185del (p.Asn62fs) rs2135819895
NM_000545.8(HNF1A):c.1864_1890dup (p.Ile622_Ser630dup) rs2135854764
NM_000545.8(HNF1A):c.186del (p.Asn62fs) rs2135819908
NM_000545.8(HNF1A):c.1873C>T (p.Gln625Ter) rs1057473810
NM_000545.8(HNF1A):c.194G>A (p.Gly65Glu) rs2135819938
NM_000545.8(HNF1A):c.196dup (p.Glu66fs) rs2135819929
NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter) rs1566092307
NM_000545.8(HNF1A):c.1A>C (p.Met1Leu) rs193922592
NM_000545.8(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.8(HNF1A):c.1A>T (p.Met1Leu) rs193922592
NM_000545.8(HNF1A):c.202C>T (p.Arg68Trp) rs779442858
NM_000545.8(HNF1A):c.206del (p.Gly69fs) rs2135819979
NM_000545.8(HNF1A):c.217G>T (p.Glu73Ter) rs905788991
NM_000545.8(HNF1A):c.225C>A (p.Asp75Glu) rs202180554
NM_000545.8(HNF1A):c.225C>G (p.Asp75Glu) rs202180554
NM_000545.8(HNF1A):c.22C>A (p.Leu8Met) rs2135819378
NM_000545.8(HNF1A):c.24_35dup (p.Gln9_Leu12dup) rs2135819368
NM_000545.8(HNF1A):c.259A>T (p.Lys87Ter) rs2135820197
NM_000545.8(HNF1A):c.25C>T (p.Gln9Ter) rs2135819387
NM_000545.8(HNF1A):c.26A>C (p.Gln9Pro) rs1876081310
NM_000545.8(HNF1A):c.26A>G (p.Gln9Arg) rs1876081310
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.8(HNF1A):c.282dup (p.Glu95Ter) rs2135820267
NM_000545.8(HNF1A):c.28A>C (p.Thr10Pro) rs2135819400
NM_000545.8(HNF1A):c.2T>C (p.Met1Thr) rs2135819325
NM_000545.8(HNF1A):c.306C>T (p.Ala102=) rs1486966222
NM_000545.8(HNF1A):c.313dup (p.Glu105fs) rs193922594
NM_000545.8(HNF1A):c.319C>A (p.Leu107Ile) rs2135820404
NM_000545.8(HNF1A):c.319C>G (p.Leu107Val)
NM_000545.8(HNF1A):c.320T>C (p.Leu107Pro) rs2135820413
NM_000545.8(HNF1A):c.320T>G (p.Leu107Arg) rs2135820413
NM_000545.8(HNF1A):c.323T>C (p.Leu108Pro) rs2135820418
NM_000545.8(HNF1A):c.326+1G>A rs2135820424
NM_000545.8(HNF1A):c.326+1G>C rs2135820424
NM_000545.8(HNF1A):c.326+1G>T rs2135820424
NM_000545.8(HNF1A):c.326+2T>G rs1555210478
NM_000545.8(HNF1A):c.326+2dup rs2135820427
NM_000545.8(HNF1A):c.326+4A>G rs193922595
NM_000545.8(HNF1A):c.327-14T>C rs886049033
NM_000545.8(HNF1A):c.327-1G>A
NM_000545.8(HNF1A):c.327-1G>T rs2135832426
NM_000545.8(HNF1A):c.327-2A>T rs2135832423
NM_000545.8(HNF1A):c.332A>G (p.Asp111Gly)
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu) rs137853243
NM_000545.8(HNF1A):c.342dup (p.Val115fs) rs2135832474
NM_000545.8(HNF1A):c.34C>G (p.Leu12Val) rs1275805852
NM_000545.8(HNF1A):c.34C>T (p.Leu12Phe) rs1275805852
NM_000545.8(HNF1A):c.358A>G (p.Lys120Glu)
NM_000545.8(HNF1A):c.35T>A (p.Leu12His) rs2135819422
NM_000545.8(HNF1A):c.35T>C (p.Leu12Pro) rs2135819422
NM_000545.8(HNF1A):c.35T>G (p.Leu12Arg) rs2135819422
NM_000545.8(HNF1A):c.360G>C (p.Lys120Asn)
NM_000545.8(HNF1A):c.364T>C (p.Tyr122His) rs2135832520
NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys) rs137853237
NM_000545.8(HNF1A):c.367C>G (p.Leu123Val) rs1876669134
NM_000545.8(HNF1A):c.368T>C (p.Leu123Pro) rs2135832538
NM_000545.8(HNF1A):c.368T>G (p.Leu123Arg) rs2135832538
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup) rs193922596
NM_000545.8(HNF1A):c.377ACA[1] (p.Asn127del) rs2135832562
NM_000545.8(HNF1A):c.382A>G (p.Ile128Val) rs1876669657
NM_000545.8(HNF1A):c.383T>A (p.Ile128Asn) rs2135832570
NM_000545.8(HNF1A):c.385C>A (p.Pro129Thr) rs1876669818
NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) rs137853244
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) rs753998395
NM_000545.8(HNF1A):c.392G>T (p.Arg131Leu) rs753998395
NM_000545.8(HNF1A):c.397G>A (p.Val133Met) rs2135832611
NM_000545.8(HNF1A):c.397G>T (p.Val133Leu) rs2135832611
NM_000545.8(HNF1A):c.399_405del (p.Val134fs) rs2135832615
NM_000545.8(HNF1A):c.403G>A (p.Asp135Asn) rs1876671241
NM_000545.8(HNF1A):c.404del (p.Asp135fs) rs2135832632
NM_000545.8(HNF1A):c.410C>G (p.Thr137Ser) rs1876671890
NM_000545.8(HNF1A):c.412G>A (p.Gly138Ser) rs2135832646
NM_000545.8(HNF1A):c.41C>T (p.Ala14Val) rs772214801
NM_000545.8(HNF1A):c.425C>A (p.Ser142Tyr) rs2135832668
NM_000545.8(HNF1A):c.425C>T (p.Ser142Phe) rs2135832668
NM_000545.8(HNF1A):c.427C>T (p.His143Tyr) rs2135832685
NM_000545.8(HNF1A):c.427del (p.His143fs) rs2135832675
NM_000545.8(HNF1A):c.429C>G (p.His143Gln) rs2135832689
NM_000545.8(HNF1A):c.42_51delinsTG (p.Ala15fs) rs2135819438
NM_000545.8(HNF1A):c.433T>C (p.Ser145Pro) rs1248375417
NM_000545.8(HNF1A):c.434C>T (p.Ser145Phe) rs1555211426
NM_000545.8(HNF1A):c.441C>A (p.His147Gln) rs193922597
NM_000545.8(HNF1A):c.44C>T (p.Ala15Val) rs2135819440
NM_000545.8(HNF1A):c.46C>G (p.Leu16Val) rs2135819447
NM_000545.8(HNF1A):c.475C>G (p.Arg159Gly) rs765432081
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) rs765432081
NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln) rs1172328722
NM_000545.8(HNF1A):c.47T>C (p.Leu16Pro) rs2135819448
NM_000545.8(HNF1A):c.485T>C (p.Leu162Pro) rs1555211434
NM_000545.8(HNF1A):c.490A>C (p.Thr164Pro) rs772597940
NM_000545.8(HNF1A):c.494G>A (p.Trp165Ter) rs1555211436
NM_000545.8(HNF1A):c.49C>G (p.Leu17Val) rs1876083246
NM_000545.8(HNF1A):c.4del (p.Val2fs) rs1555260207
NM_000545.8(HNF1A):c.503G>C (p.Arg168Pro)
NM_000545.8(HNF1A):c.511C>G (p.Arg171Gly) rs1057520291
NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter) rs1057520291
NM_000545.8(HNF1A):c.517G>A (p.Val173Met)
NM_000545.8(HNF1A):c.518_526+37del rs386134267
NM_000545.8(HNF1A):c.526+1G>A rs1364708195
NM_000545.8(HNF1A):c.526+1G>C rs1364708195
NM_000545.8(HNF1A):c.526+1G>T
NM_000545.8(HNF1A):c.526+2dup rs1555211448
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.527-1G>A rs1555211904
NM_000545.8(HNF1A):c.539C>G (p.Ala180Gly)
NM_000545.8(HNF1A):c.55T>G (p.Ser19Ala) rs1064793150
NM_000545.8(HNF1A):c.56C>T (p.Ser19Leu) rs1876084584
NM_000545.8(HNF1A):c.58G>A (p.Gly20Arg) rs1249563793
NM_000545.8(HNF1A):c.58G>C (p.Gly20Arg) rs1249563793
NM_000545.8(HNF1A):c.59G>A (p.Gly20Glu) rs1566092362
NM_000545.8(HNF1A):c.59G>C (p.Gly20Ala) rs1566092362
NM_000545.8(HNF1A):c.607C>A (p.Arg203Ser) rs1180119907
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.613A>C (p.Lys205Gln) rs2135839309
NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg) rs1057524898
NM_000545.8(HNF1A):c.618G>C (p.Trp206Cys) rs2135839338
NM_000545.8(HNF1A):c.619G>T (p.Gly207Cys) rs2135839346
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp) rs1555211922
NM_000545.8(HNF1A):c.646C>T (p.Gln216Ter)
NM_000545.8(HNF1A):c.650C>G (p.Ala217Gly) rs2135839548
NM_000545.8(HNF1A):c.653A>G (p.Tyr218Cys)
NM_000545.8(HNF1A):c.663GAA[1] (p.Lys222del) rs193922599
NM_000545.8(HNF1A):c.66C>G (p.Ser22Arg)
NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser) rs193922600
NM_000545.8(HNF1A):c.675del (p.Ser225fs)
NM_000545.8(HNF1A):c.676A>G (p.Lys226Glu)
NM_000545.8(HNF1A):c.676_678del (p.Lys226del) rs1555211927
NM_000545.8(HNF1A):c.682G>A (p.Glu228Lys) rs747416693
NM_000545.8(HNF1A):c.682dup (p.Glu228fs)
NM_000545.8(HNF1A):c.683A>G (p.Glu228Gly) rs2135839809
NM_000545.8(HNF1A):c.685C>G (p.Arg229Gly) rs769086289
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln) rs1057520779
NM_000545.8(HNF1A):c.686G>C (p.Arg229Pro) rs1057520779
NM_000545.8(HNF1A):c.690_691del (p.Glu230fs)
NM_000545.8(HNF1A):c.694dup (p.Leu232fs) rs1057524908
NM_000545.8(HNF1A):c.695T>C (p.Leu232Pro)
NM_000545.8(HNF1A):c.696dup (p.Val233fs) rs2135839892
NM_000545.8(HNF1A):c.697G>C (p.Val233Leu)
NM_000545.8(HNF1A):c.697G>T (p.Val233Leu)
NM_000545.8(HNF1A):c.709A>C (p.Asn237His) rs2135839997
NM_000545.8(HNF1A):c.709A>G (p.Asn237Asp) rs2135839997
NM_000545.8(HNF1A):c.710A>C (p.Asn237Thr) rs1555211935
NM_000545.8(HNF1A):c.710A>G (p.Asn237Ser) rs1555211935
NM_000545.8(HNF1A):c.711_713del (p.Asn237_Arg238delinsLys) rs2135840027
NM_000545.8(HNF1A):c.71_72del (p.Glu24fs) rs2135819527
NM_000545.8(HNF1A):c.721T>C (p.Cys241Arg) rs2135841104
NM_000545.8(HNF1A):c.721T>G (p.Cys241Gly) rs2135841104
NM_000545.8(HNF1A):c.722G>A (p.Cys241Tyr) rs2135841113
NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs) rs1555211975
NM_000545.8(HNF1A):c.725T>C (p.Ile242Thr) rs2135841137
NM_000545.8(HNF1A):c.727C>G (p.Gln243Glu)
NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile) rs193922602
NM_000545.8(HNF1A):c.732A>T (p.Arg244Ser) rs2135841190
NM_000545.8(HNF1A):c.733G>A (p.Gly245Arg) rs2135841196
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val) rs193922603
NM_000545.8(HNF1A):c.736G>T (p.Val246Leu) rs2135841224
NM_000545.8(HNF1A):c.737T>C (p.Val246Ala) rs2135841238
NM_000545.8(HNF1A):c.737T>G (p.Val246Gly) rs2135841238
NM_000545.8(HNF1A):c.73G>A (p.Ala25Thr) rs587778394
NM_000545.8(HNF1A):c.73G>C (p.Ala25Pro) rs587778394
NM_000545.8(HNF1A):c.745T>C (p.Ser249Pro) rs2135841315
NM_000545.8(HNF1A):c.748C>T (p.Gln250Ter) rs1308016430
NM_000545.8(HNF1A):c.749A>C (p.Gln250Pro) rs1555211982
NM_000545.8(HNF1A):c.760C>A (p.Leu254Met) rs2135841451
NM_000545.8(HNF1A):c.761T>A (p.Leu254Gln) rs2135841460
NM_000545.8(HNF1A):c.763G>A (p.Gly255Ser) rs2135841479
NM_000545.8(HNF1A):c.767C>T (p.Ser256Phe) rs1555211986
NM_000545.8(HNF1A):c.779C>A (p.Thr260Lys)
NM_000545.8(HNF1A):c.779C>G (p.Thr260Arg)
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.77T>C (p.Leu26Pro) rs2135819552
NM_000545.8(HNF1A):c.781G>A (p.Glu261Lys) rs2135841592
NM_000545.8(HNF1A):c.787C>T (p.Arg263Cys) rs771108132
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_000545.8(HNF1A):c.788G>T (p.Arg263Leu) rs1057520504
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe) rs193922604
NM_000545.8(HNF1A):c.790_791del (p.Val264fs) rs1555211999
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser) rs1555212006
NM_000545.8(HNF1A):c.794A>G (p.Tyr265Cys) rs1555212006
NM_000545.8(HNF1A):c.797A>G (p.Asn266Ser) rs2135841726
NM_000545.8(HNF1A):c.798C>G (p.Asn266Lys) rs2135841730
NM_000545.8(HNF1A):c.801_802insGGG (p.Trp267_Phe268insGly) rs1555212009
NM_000545.8(HNF1A):c.802T>A (p.Phe268Ile) rs2135841769
NM_000545.8(HNF1A):c.802T>C (p.Phe268Leu) rs2135841769
NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser) rs193922605
NM_000545.8(HNF1A):c.80T>C (p.Ile27Thr) rs2135819576
NM_000545.8(HNF1A):c.80T>G (p.Ile27Ser) rs2135819576
NM_000545.8(HNF1A):c.811C>G (p.Arg271Gly) rs886039386
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp) rs886039386
NM_000545.8(HNF1A):c.811del (p.Arg271fs) rs2135841855
NM_000545.8(HNF1A):c.814C>A (p.Arg272Ser) rs1555212014
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238
NM_000545.8(HNF1A):c.817A>C (p.Lys273Gln) rs1555212016
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) rs137853245
NM_000545.8(HNF1A):c.82C>T (p.Gln28Ter) rs2135819583
NM_000545.8(HNF1A):c.85G>C (p.Ala29Pro) rs1876087643
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_000545.8(HNF1A):c.864dup (p.Pro289fs) rs762703502
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser) rs765829022
NM_000545.8(HNF1A):c.866C>A (p.Pro289His) rs267603343
NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg) rs267603343
NM_000545.8(HNF1A):c.870C>T (p.Pro290=) rs779008957
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>A (p.Pro291Gln) rs193922606
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg) rs193922606
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu) rs193922606
NM_000545.8(HNF1A):c.872del (p.Pro291fs) rs587776825
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000545.8(HNF1A):c.94G>T (p.Glu32Ter) rs1388926124
NM_000545.8(HNF1A):c.956-1G>A rs1565886545
NM_000545.8(HNF1A):c.956-1G>C rs1565886545
NM_000545.8(HNF1A):c.956-1G>T rs1565886545
NM_000545.8(HNF1A):c.956-2A>G
NM_000545.8(HNF1A):c.98C>G (p.Pro33Arg) rs1001854457
NM_000545.8(HNF1A):c.98C>T (p.Pro33Leu) rs1001854457
NM_001042413.2(GLIS3):c.1085C>A (p.Pro362Gln) rs146131512
NM_001042413.2(GLIS3):c.1464C>G (p.Asp488Glu) rs377094207
NM_001042413.2(GLIS3):c.2765A>T (p.Gln922Leu) rs1057524895
NM_001042413.2(GLIS3):c.844C>G (p.Pro282Ala) rs143051164
NM_001042413.2(GLIS3):c.95G>C (p.Arg32Pro) rs375834888
NM_001109809.5(ZFP57):c.288G>C (p.Lys96Asn) rs745602868
NM_001109809.5(ZFP57):c.374G>A (p.Arg125Gln) rs114591600
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) rs556562410
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) rs747175358
NM_001122955.4(BSCL2):c.631-1G>C rs1057524896
NM_001366110.1(PAX4):c.128T>C (p.Ile43Thr) rs1057524894
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys) rs112061448
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val) rs771595125
NM_001378454.1(ALMS1):c.12092C>A (p.Pro4031Gln) rs753052003
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2973G>T (p.Lys991Asn) rs1444578140
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln) rs771362238
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp) rs28730854
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.895C>T (p.Pro299Ser) rs1349884233
NM_001378454.1(ALMS1):c.9112C>G (p.Pro3038Ala) rs370622410
NM_001378454.1(ALMS1):c.9779A>C (p.Asp3260Ala) rs745518051
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) rs567720261
NM_001715.3(BLK):c.712C>T (p.Arg238Trp) rs575123730
NM_001807.6(CEL):c.850C>G (p.Arg284Gly) rs369868891
NM_002303.6(LEPR):c.1055G>T (p.Cys352Phe) rs1057524881
NM_002303.6(LEPR):c.1968G>T (p.Lys656Asn) rs1805094
NM_002666.5(PLIN1):c.964-1G>A rs201579932
NM_002711.4(PPP1R3A):c.1824C>A (p.Ser608Arg) rs767098711
NM_002711.4(PPP1R3A):c.2990T>C (p.Phe997Ser) rs35572169
NM_002711.4(PPP1R3A):c.416C>G (p.Ser139Cys) rs1057524893
NM_003597.5(KLF11):c.608_609delinsAG (p.Gly203Glu) rs1057524882
NM_004836.7(EIF2AK3):c.440T>G (p.Val147Gly) rs1057524886
NM_005257.6(GATA6):c.172A>G (p.Ser58Gly) rs924843423
NM_006005.3(WFS1):c.1060_1062del (p.Phe354del) rs876657735
NM_006005.3(WFS1):c.1135G>T (p.Asp379Tyr) rs772554352
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr) rs1057524887
NM_006005.3(WFS1):c.1868T>A (p.Met623Lys) rs758746685
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp) rs373310972
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426
NM_006005.3(WFS1):c.667C>A (p.Leu223Met) rs1057524889
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile) rs71537678
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met) rs563539429
NM_006412.4(AGPAT2):c.274T>C (p.Cys92Arg) rs1554754454
NM_006412.4(AGPAT2):c.646_647= (p.Lys216=)
NM_006996.3(SLC19A2):c.98C>A (p.Pro33Gln) rs867455033
NM_012232.6(CAVIN1):c.1038CGA[3] (p.Asp349del) rs767832643
NM_012232.6(CAVIN1):c.553_570dup (p.Glu185_Glu190dup) rs537998274
NM_012232.6(CAVIN1):c.55G>A (p.Ala19Thr) rs185645510
NM_014009.4(FOXP3):c.168CTC[1] (p.Ser60del) rs781861708
NM_014009.4(FOXP3):c.409G>A (p.Ala137Thr) rs1057524899
NM_022895.3(C12orf43):c.*1890C>A rs886049035
NM_138711.6(PPARG):c.832C>T (p.Arg278Cys) rs1176746892
NM_173560.4(RFX6):c.1319A>G (p.Tyr440Cys) rs1018054636
NM_173560.4(RFX6):c.143C>T (p.Ala48Val) rs200522460
NM_173560.4(RFX6):c.1930C>T (p.Pro644Ser) rs762488509
NM_173560.4(RFX6):c.1955G>A (p.Arg652Gln) rs867520268
NM_173560.4(RFX6):c.878A>C (p.His293Pro) rs1775460105
NM_175914.5(HNF4A):c.-181G>A rs2146126966
NM_175914.5(HNF4A):c.100del (p.Val34fs) rs1555813267
NM_175914.5(HNF4A):c.1064-19C>A rs202202465
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.124G>A (p.Gly42Arg)
NM_175914.5(HNF4A):c.125G>T (p.Gly42Val)
NM_175914.5(HNF4A):c.1293C>T (p.Val431=)
NM_175914.5(HNF4A):c.1306A>T (p.Lys436Ter)
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.188G>A (p.Arg63Gln) rs1057517745
NM_175914.5(HNF4A):c.194G>A (p.Ser65Asn)
NM_175914.5(HNF4A):c.195C>A (p.Ser65Arg) rs1008906897
NM_175914.5(HNF4A):c.199C>T (p.Arg67Trp)
NM_175914.5(HNF4A):c.1del (p.Met1fs) rs2146127577
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.209A>G (p.His70Arg)
NM_175914.5(HNF4A):c.221G>A (p.Cys74Tyr) rs1555813342
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_175914.5(HNF4A):c.224+2T>C rs1057524790
NM_175914.5(HNF4A):c.224G>A (p.Arg75Lys) rs1131692187
NM_175914.5(HNF4A):c.225-21A>G
NM_175914.5(HNF4A):c.278G>A (p.Cys93Tyr)
NM_175914.5(HNF4A):c.278G>C (p.Cys93Ser)
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs) rs193922471
NM_175914.5(HNF4A):c.297C>G (p.Phe99Leu)
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr) rs1229650809
NM_175914.5(HNF4A):c.302C>A (p.Ala101Asp)
NM_175914.5(HNF4A):c.304G>A (p.Gly102Ser)
NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp)
NM_175914.5(HNF4A):c.309G>A (p.Met103Ile)
NM_175914.5(HNF4A):c.320C>A (p.Ala107Asp)
NM_175914.5(HNF4A):c.331G>T (p.Glu111Ter)
NM_175914.5(HNF4A):c.334C>T (p.Arg112Trp) rs370239205
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913
NM_175914.5(HNF4A):c.337G>C (p.Asp113His)
NM_175914.5(HNF4A):c.337G>T (p.Asp113Tyr)
NM_175914.5(HNF4A):c.352C>T (p.Arg118Ter) rs2146412136
NM_175914.5(HNF4A):c.3G>A (p.Met1Ile) rs2146127594
NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter) rs1555815158
NM_175914.5(HNF4A):c.421del (p.Arg141fs)
NM_175914.5(HNF4A):c.427-2A>G
NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter) rs2146127862
NM_175914.5(HNF4A):c.490dup (p.Asp164fs)
NM_175914.5(HNF4A):c.500A>C (p.Glu167Ala)
NM_175914.5(HNF4A):c.502T>C (p.Ser168Pro)
NM_175914.5(HNF4A):c.535T>C (p.Trp179Arg)
NM_175914.5(HNF4A):c.536G>C (p.Trp179Ser)
NM_175914.5(HNF4A):c.539C>A (p.Ala180Asp)
NM_175914.5(HNF4A):c.561C>G (p.Cys187Trp)
NM_175914.5(HNF4A):c.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.582+1G>C
NM_175914.5(HNF4A):c.583-2del rs1600731198
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met) rs1775879070
NM_175914.5(HNF4A):c.590T>C (p.Leu197Pro) rs1555816279
NM_175914.5(HNF4A):c.593T>G (p.Leu198Arg) rs1568735272
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs) rs193922476
NM_175914.5(HNF4A):c.724del (p.Val242fs) rs1555816642
NM_175914.5(HNF4A):c.731T>C (p.Ile244Thr)
NM_175914.5(HNF4A):c.734G>A (p.Arg245His)
NM_175914.5(HNF4A):c.778G>T (p.Asp260Tyr) rs1236613475
NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln)
NM_175914.5(HNF4A):c.789G>C (p.Glu263Asp) rs1568736971
NM_175914.5(HNF4A):c.876_877insT (p.Val293fs)
NM_175914.5(HNF4A):c.901A>T (p.Ile301Phe)
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu) rs369429452
NM_175914.5(HNF4A):c.937G>A (p.Gly313Arg)
NM_175914.5(HNF4A):c.938G>T (p.Gly313Val)
NM_178161.3(PTF1A):c.343C>T (p.Pro115Ser) rs1840910466
NM_178161.3(PTF1A):c.440C>T (p.Ala147Val) rs1840912525
NM_178161.3(PTF1A):c.520C>T (p.Arg174Trp) rs1840913860
Single allele rs2135818764

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