ClinVar Miner

List of variants reported as uncertain significance for hyperinsulinism

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 966
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_000525.4(KCNJ11):c.*376C>T rs5208 0.01164
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_000208.4(INSR):c.909G>A (p.Gln303=) rs9282757 0.00950
NM_000525.4(KCNJ11):c.*76G>A rs193076739 0.00819
NM_175914.5(HNF4A):c.*3086C>T rs551080524 0.00706
NM_000525.4(KCNJ11):c.*766G>A rs193101892 0.00683
NM_000525.4(KCNJ11):c.*92C>T rs5212 0.00626
NM_000525.4(KCNJ11):c.*288G>A rs5209 0.00590
NM_000525.4(KCNJ11):c.*487A>G rs79457490 0.00588
NM_000525.4(KCNJ11):c.*529G>A rs115826080 0.00510
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_000525.4(KCNJ11):c.*1168G>A rs182349583 0.00391
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
NM_000525.4(KCNJ11):c.-498T>C rs529946415 0.00352
NM_175914.5(HNF4A):c.*1127T>C rs757386171 0.00337
NM_000525.4(KCNJ11):c.*686A>G rs147282653 0.00324
NM_000525.4(KCNJ11):c.*848A>G rs5206 0.00291
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_175914.5(HNF4A):c.*1078G>A rs573432571 0.00233
NM_003051.4(SLC16A1):c.-92G>T rs144301005 0.00214
NM_175914.5(HNF4A):c.*1293C>T rs182919150 0.00201
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_175914.5(HNF4A):c.*76G>A rs11574743 0.00191
NM_003051.4(SLC16A1):c.*629C>T rs540946001 0.00189
NM_000525.4(KCNJ11):c.*1197G>A rs191682072 0.00187
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=) rs143276279 0.00187
NM_175914.5(HNF4A):c.*2006T>C rs150112206 0.00175
NM_175914.5(HNF4A):c.*1783G>T rs564110189 0.00161
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_175914.5(HNF4A):c.*446G>A rs548013860 0.00147
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00131
NM_003051.4(SLC16A1):c.*948G>A rs543171131 0.00129
NM_003051.4(SLC16A1):c.*104C>T rs182505461 0.00128
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000525.4(KCNJ11):c.*862G>T rs547635594 0.00115
NM_175914.5(HNF4A):c.*1013G>A rs767537996 0.00103
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_000162.5(GCK):c.-455A>G rs140894490 0.00101
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_175914.5(HNF4A):c.*3153C>A rs569302875 0.00087
NM_003051.3(SLC16A1):c.-349G>A rs750771668 0.00086
NM_005327.7(HADH):c.*377G>A rs148809781 0.00084
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_005327.7(HADH):c.*600C>T rs544321475 0.00077
NM_005327.4(HADH):c.-51delC rs574132278 0.00074
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_175914.5(HNF4A):c.426+6G>A rs182980547 0.00070
NM_005271.5(GLUD1):c.*1501G>C rs768450394 0.00068
NM_005327.7(HADH):c.*168A>T rs532458283 0.00062
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_003051.4(SLC16A1):c.*1654A>G rs761298128 0.00056
NM_175914.5(HNF4A):c.*271C>T rs11574745 0.00055
NM_005327.7(HADH):c.-115del rs537335460 0.00053
NM_000162.5(GCK):c.-453C>T rs191795044 0.00049
NM_000352.6(ABCC8):c.3867+7G>A rs372198547 0.00049
NM_005327.4(HADH):c.-203A>G rs376591232 0.00049
NM_000162.5(GCK):c.483+26C>A rs142668032 0.00048
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) rs201466857 0.00048
NM_003051.4(SLC16A1):c.*516C>G rs754537571 0.00048
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_000525.4(KCNJ11):c.-546G>T rs886048045 0.00041
NM_003051.3(SLC16A1):c.-248G>T rs762453730 0.00041
NM_175914.5(HNF4A):c.*2153T>C rs760628227 0.00039
NM_000352.6(ABCC8):c.486C>T (p.Ile162=) rs149872185 0.00038
NM_000162.5(GCK):c.*764C>T rs185418856 0.00037
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961 0.00036
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
NM_175914.5(HNF4A):c.*2992C>T rs770250175 0.00032
NM_003051.4(SLC16A1):c.441C>T (p.Asn147=) rs150246870 0.00031
NM_000208.4(INSR):c.39G>C (p.Pro13=) rs771984795 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser) rs77373295 0.00029
NM_175914.5(HNF4A):c.*764C>T rs537782818 0.00029
NM_000352.6(ABCC8):c.1923+3G>A rs374869130 0.00028
NM_000525.4(KCNJ11):c.-154G>T rs539975714 0.00026
NM_175914.5(HNF4A):c.*1395C>T rs568456380 0.00026
NM_175914.5(HNF4A):c.*547G>A rs1031904976 0.00026
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058 0.00024
NM_000352.6(ABCC8):c.1630+8C>T rs200053398 0.00024
NM_005271.5(GLUD1):c.*1419T>G rs895697576 0.00024
NM_000162.5(GCK):c.-102G>A rs781377703 0.00023
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00022
NM_003051.3(SLC16A1):c.-360G>A rs758825428 0.00022
NM_005271.5(GLUD1):c.*970A>G rs760207211 0.00022
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_003051.4(SLC16A1):c.-201T>A rs753315328 0.00021
NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val) rs554138665 0.00021
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr) rs77131926 0.00020
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_175914.5(HNF4A):c.*3013A>G rs773868595 0.00019
NM_000352.6(ABCC8):c.2888A>G (p.Asp963Gly) rs538013271 0.00017
NM_005327.7(HADH):c.809C>T (p.Thr270Met) rs577954688 0.00017
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val) rs369049969 0.00016
NM_000352.6(ABCC8):c.4412-14C>T rs193922404 0.00016
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=) rs145673861 0.00016
NM_000525.4(KCNJ11):c.*546G>A rs886048037 0.00016
NM_005271.5(GLUD1):c.1402+10G>A rs202067232 0.00016
NM_175914.5(HNF4A):c.*1087G>C rs540463510 0.00016
NM_175914.5(HNF4A):c.*2193T>C rs148871044 0.00016
NM_175914.5(HNF4A):c.50-4753G>A rs566155738 0.00016
NM_175914.5(HNF4A):c.582+12C>T rs372596032 0.00016
NM_005271.5(GLUD1):c.1403-11T>C rs886047374 0.00015
NM_000352.6(ABCC8):c.823-8C>T rs201000679 0.00014
NM_000525.4(KCNJ11):c.*697G>A rs117976105 0.00014
NM_175914.5(HNF4A):c.*1364G>A rs187923731 0.00014
NM_175914.5(HNF4A):c.*3068C>T rs753843962 0.00014
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_175914.5(HNF4A):c.*1363C>T rs769165584 0.00013
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318 0.00011
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790 0.00011
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met) rs150316347 0.00011
NM_000352.6(ABCC8):c.4119+15C>T rs58368439 0.00011
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys) rs144705160 0.00011
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531 0.00011
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His) rs145935651 0.00011
NM_003051.4(SLC16A1):c.*603T>C rs527658261 0.00011
NM_005327.7(HADH):c.*142G>A rs560215584 0.00011
NM_175914.5(HNF4A):c.*2374G>C rs373068234 0.00011
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472 0.00010
NM_000352.6(ABCC8):c.723C>T (p.His241=) rs147276708 0.00010
NM_000525.4(KCNJ11):c.-54C>T rs1016780684 0.00010
NM_003051.4(SLC16A1):c.*1801A>G rs750135904 0.00010
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_000162.5(GCK):c.393C>T (p.Ser131=) rs139139350 0.00009
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His) rs199763382 0.00009
NM_000525.4(KCNJ11):c.*218G>T rs886048039 0.00009
NM_005327.7(HADH):c.-34C>T rs748286204 0.00009
NM_175914.5(HNF4A):c.*977C>G rs367907885 0.00009
NM_175914.5(HNF4A):c.427-5C>T rs374703326 0.00009
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.3858C>T (p.Tyr1286=) rs377045545 0.00008
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val) rs562680077 0.00008
NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu) rs770317560 0.00008
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn) rs781480098 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_005271.5(GLUD1):c.*998C>T rs766730554 0.00008
NM_005327.7(HADH):c.*305T>A rs3822294 0.00008
NM_005327.7(HADH):c.240G>A (p.Lys80=) rs748623569 0.00008
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740 0.00007
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln) rs376080397 0.00007
NM_175914.5(HNF4A):c.*3018G>A rs533361991 0.00007
NM_000162.5(GCK):c.363+10G>A rs758495950 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp) rs142620721 0.00006
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540 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.4239G>T (p.Pro1413=) rs373478721 0.00006
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His) rs143557848 0.00006
NM_000352.6(ABCC8):c.621C>T (p.Pro207=) rs765043940 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_000352.6(ABCC8):c.853C>T (p.Arg285Trp) rs773087569 0.00006
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys) rs758749160 0.00006
NM_000525.4(KCNJ11):c.451G>A (p.Val151Met) rs529884745 0.00006
NM_000525.4(KCNJ11):c.86G>A (p.Arg29His) rs988002138 0.00006
NM_003051.4(SLC16A1):c.*946G>A rs867810008 0.00006
NM_005271.5(GLUD1):c.1279-6G>A rs374548261 0.00006
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=) rs756259685 0.00006
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) rs373705613 0.00006
NM_005327.7(HADH):c.*335C>A rs780532720 0.00006
NM_005327.7(HADH):c.361G>A (p.Val121Met) rs377615662 0.00006
NM_175914.5(HNF4A):c.*1821C>T rs886056686 0.00006
NM_175914.5(HNF4A):c.381G>A (p.Leu127=) rs193922473 0.00006
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_000208.4(INSR):c.1628C>T (p.Thr543Met) rs767160876 0.00005
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp) rs200921389 0.00005
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00005
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692 0.00005
NM_000352.6(ABCC8):c.2870G>A (p.Arg957His) rs775921458 0.00005
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile) rs771882862 0.00005
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser) rs1057517139 0.00005
NM_003051.4(SLC16A1):c.*657C>A rs911644501 0.00005
NM_005327.7(HADH):c.132+7G>T rs534966818 0.00005
NM_000162.5(GCK):c.*678G>T rs555058443 0.00004
NM_000162.5(GCK):c.646G>A (p.Glu216Lys) rs778550411 0.00004
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met) rs763794263 0.00004
NM_000352.6(ABCC8):c.307C>T (p.His103Tyr) rs751209734 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.4008G>C (p.Lys1336Asn) rs67767715 0.00004
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val) rs368450282 0.00004
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=) rs367862706 0.00004
NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr) rs756552692 0.00004
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His) rs774714794 0.00004
NM_003051.3(SLC16A1):c.-218G>A rs761334745 0.00004
NM_003051.4(SLC16A1):c.*77C>T rs868304120 0.00004
NM_005327.7(HADH):c.*59G>A rs529762487 0.00004
NM_005327.7(HADH):c.710-14C>T rs185267497 0.00004
NM_005327.7(HADH):c.820G>A (p.Val274Met) rs543440046 0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_005327.7(HADH):c.908G>T (p.Gly303Val) rs575378007 0.00004
NM_175914.5(HNF4A):c.*1828G>A rs759101859 0.00004
NM_175914.5(HNF4A):c.*1C>A rs201330472 0.00004
NM_175914.5(HNF4A):c.*2297C>A rs1341485123 0.00004
NM_175914.5(HNF4A):c.1216+6C>A rs778818487 0.00004
NM_175914.5(HNF4A):c.50-4700G>A rs568730599 0.00004
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln) rs371124358 0.00004
NM_000162.5(GCK):c.-279C>T rs997877536 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_000352.6(ABCC8):c.1270G>A (p.Asp424Asn) rs577545383 0.00003
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296 0.00003
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser) rs191697443 0.00003
NM_000352.6(ABCC8):c.2977G>A (p.Ala993Thr) rs148342166 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.3462C>T (p.Ala1154=) rs540122589 0.00003
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) rs149331388 0.00003
NM_000352.6(ABCC8):c.413-15A>G rs758744263 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=) rs369810811 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_000525.4(KCNJ11):c.*849C>G rs1272490539 0.00003
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met) rs114215135 0.00003
NM_000525.4(KCNJ11):c.1112G>A (p.Arg371His) rs1233061680 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.853G>A (p.Val285Ile) rs149667199 0.00003
NM_003051.3(SLC16A1):c.-324T>G rs1019615427 0.00003
NM_003051.4(SLC16A1):c.*1312G>C rs886045059 0.00003
NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile) rs200802632 0.00003
NM_003051.4(SLC16A1):c.1342T>C (p.Leu448=) rs773196238 0.00003
NM_005271.5(GLUD1):c.*1270C>T rs886047370 0.00003
NM_005271.5(GLUD1):c.*1464C>T rs886047368 0.00003
NM_005271.5(GLUD1):c.*1548C>T rs886047366 0.00003
NM_005271.5(GLUD1):c.1568G>A (p.Arg523His) rs761933718 0.00003
NM_005327.7(HADH):c.325G>A (p.Val109Ile) rs199810422 0.00003
NM_005327.7(HADH):c.47C>T (p.Ser16Phe) rs374248298 0.00003
NM_175914.5(HNF4A):c.*1616G>A rs886056685 0.00003
NM_175914.5(HNF4A):c.*168G>T rs1045382698 0.00003
NM_175914.5(HNF4A):c.*2779A>C rs755438203 0.00003
NM_175914.5(HNF4A):c.*572C>A rs761017274 0.00003
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000162.5(GCK):c.394G>A (p.Asp132Asn) rs762419802 0.00002
NM_000162.5(GCK):c.435C>G (p.Pro145=) rs773281783 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_000208.4(INSR):c.2121C>T (p.Gly707=) rs753257847 0.00002
NM_000208.4(INSR):c.3158G>A (p.Arg1053His) rs748109926 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.2217G>T (p.Trp739Cys) rs1331539684 0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000352.6(ABCC8):c.291-3C>T rs764107333 0.00002
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys) rs1254230359 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.3877T>G (p.Tyr1293Asp) rs368710356 0.00002
NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile) rs774965446 0.00002
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=) rs1345535328 0.00002
NM_000352.6(ABCC8):c.4412-4T>G rs1476016104 0.00002
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu) rs750165947 0.00002
NM_000525.4(KCNJ11):c.*1055T>A rs886048032 0.00002
NM_000525.4(KCNJ11):c.*40C>T rs746850899 0.00002
NM_000525.4(KCNJ11):c.-179C>T rs776949660 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 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_000525.4(KCNJ11):c.804C>T (p.Tyr268=) rs778225010 0.00002
NM_000525.4(KCNJ11):c.91C>T (p.Arg31Trp) rs757621300 0.00002
NM_000525.4(KCNJ11):c.970G>A (p.Gly324Arg) rs1193170151 0.00002
NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=) rs779279429 0.00002
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys) rs766896575 0.00002
NM_005271.5(GLUD1):c.1494G>A (p.Ser498=) rs759865842 0.00002
NM_005271.5(GLUD1):c.154C>A (p.His52Asn) rs750420022 0.00002
NM_005271.5(GLUD1):c.330G>A (p.Lys110=) rs199752396 0.00002
NM_005271.5(GLUD1):c.55C>T (p.Leu19=) rs892387294 0.00002
NM_005327.7(HADH):c.34G>A (p.Val12Met) rs139920805 0.00002
NM_005327.7(HADH):c.479C>T (p.Thr160Ile) rs780252799 0.00002
NM_005327.7(HADH):c.757G>A (p.Gly253Ser) rs749276908 0.00002
NM_005327.7(HADH):c.817A>G (p.Ile273Val) rs1404810726 0.00002
NM_005327.7(HADH):c.863A>C (p.Gln288Pro) rs751120678 0.00002
NM_175914.5(HNF4A):c.*867G>A rs940169046 0.00002
NM_175914.5(HNF4A):c.1020C>G (p.Gly340=) rs758836138 0.00002
NC_000011.10:g.17476966G>C rs1395224084 0.00001
NM_000162.5(GCK):c.*723A>G rs886062345 0.00001
NM_000162.5(GCK):c.-449G>A rs1375544246 0.00001
NM_000162.5(GCK):c.107G>A (p.Arg36Gln) rs193922261 0.00001
NM_000162.5(GCK):c.1253+12C>T rs768491249 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.415A>T (p.Met139Leu) rs368137186 0.00001
NM_000162.5(GCK):c.580-11C>T rs370016334 0.00001
NM_000162.5(GCK):c.609G>A (p.Val203=) rs776703291 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_000208.4(INSR):c.14G>A (p.Gly5Asp) rs886054690 0.00001
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396 0.00001
NM_000352.6(ABCC8):c.103C>T (p.Pro35Ser) rs1183465672 0.00001
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr) rs765529676 0.00001
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val) rs780283224 0.00001
NM_000352.6(ABCC8):c.148+3G>A rs996321405 0.00001
NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val) rs773345085 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr) rs886048054 0.00001
NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe) rs1362268812 0.00001
NM_000352.6(ABCC8):c.1924-9C>T rs1218098329 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.2209G>A (p.Val737Ile) rs376206979 0.00001
NM_000352.6(ABCC8):c.2256-3C>T rs756328102 0.00001
NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg) rs757961130 0.00001
NM_000352.6(ABCC8):c.2403C>A (p.Val801=) rs148863748 0.00001
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile) rs775776658 0.00001
NM_000352.6(ABCC8):c.2556+1G>A rs749271190 0.00001
NM_000352.6(ABCC8):c.255G>A (p.Leu85=) rs1323334420 0.00001
NM_000352.6(ABCC8):c.2694+15G>A rs886048051 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.2937C>T (p.Ser979=) rs780868010 0.00001
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568 0.00001
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn) rs767123465 0.00001
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr) rs745895362 0.00001
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=) rs771538281 0.00001
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met) rs769818698 0.00001
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=) rs144207158 0.00001
NM_000352.6(ABCC8):c.3558-8C>T rs544550330 0.00001
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr) rs1320499455 0.00001
NM_000352.6(ABCC8):c.3661C>T (p.Arg1221Trp) rs567382793 0.00001
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe) rs1278920115 0.00001
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=) rs765708759 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000352.6(ABCC8):c.4060G>A (p.Asp1354Asn) rs1199684247 0.00001
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=) rs547430068 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.4267A>G (p.Ile1423Val) rs748831440 0.00001
NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile) rs755577144 0.00001
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly) rs374703754 0.00001
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271 0.00001
NM_000352.6(ABCC8):c.4545+9T>C rs775018351 0.00001
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247 0.00001
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=) rs1439464815 0.00001
NM_000352.6(ABCC8):c.507C>T (p.Phe169=) rs755745806 0.00001
NM_000352.6(ABCC8):c.541A>T (p.Met181Leu) rs368894930 0.00001
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020 0.00001
NM_000352.6(ABCC8):c.926C>G (p.Ala309Gly) rs149347593 0.00001
NM_000352.6(ABCC8):c.933G>C (p.Leu311=) rs776498313 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000525.4(KCNJ11):c.*1220G>A rs1457465996 0.00001
NM_000525.4(KCNJ11):c.*1562A>G rs886048031 0.00001
NM_000525.4(KCNJ11):c.*311C>T rs886048038 0.00001
NM_000525.4(KCNJ11):c.*701A>T rs5207 0.00001
NM_000525.4(KCNJ11):c.-37C>T rs753392628 0.00001
NM_000525.4(KCNJ11):c.-515G>A rs886048044 0.00001
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678 0.00001
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His) rs745379486 0.00001
NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro) rs797045635 0.00001
NM_000525.4(KCNJ11):c.1094G>A (p.Arg365His) rs750689750 0.00001
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu) rs114613745 0.00001
NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=) rs1450567888 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.463G>A (p.Val155Met) rs587783668 0.00001
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His) rs1266231295 0.00001
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753 0.00001
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=) rs202238153 0.00001
NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val) rs754683593 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_003051.4(SLC16A1):c.*1018T>G rs774371594 0.00001
NM_003051.4(SLC16A1):c.*1134G>A rs778106916 0.00001
NM_003051.4(SLC16A1):c.*137A>T rs1223206132 0.00001
NM_003051.4(SLC16A1):c.*815G>A rs556305447 0.00001
NM_003051.4(SLC16A1):c.-163T>C rs886045088 0.00001
NM_003051.4(SLC16A1):c.-87C>T rs886045087 0.00001
NM_003051.4(SLC16A1):c.1345G>A (p.Ala449Thr) rs756006376 0.00001
NM_003051.4(SLC16A1):c.1452G>A (p.Pro484=) rs17852382 0.00001
NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser) rs1461742764 0.00001
NM_003051.4(SLC16A1):c.540T>C (p.Ile180=) rs775755027 0.00001
NM_003051.4(SLC16A1):c.680A>G (p.His227Arg) rs549501840 0.00001
NM_005271.5(GLUD1):c.*1181C>A rs542298445 0.00001
NM_005271.5(GLUD1):c.*1436G>A rs886047369 0.00001
NM_005271.5(GLUD1):c.*469C>A rs566474794 0.00001
NM_005271.5(GLUD1):c.*496G>A rs886047372 0.00001
NM_005271.5(GLUD1):c.1181C>T (p.Pro394Leu) rs777564388 0.00001
NM_005271.5(GLUD1):c.136G>A (p.Ala46Thr) rs780956934 0.00001
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=) rs774771496 0.00001
NM_005271.5(GLUD1):c.646+3A>G rs1846331910 0.00001
NM_005327.4(HADH):c.-86G>T rs528952923 0.00001
NM_005327.7(HADH):c.*279C>A rs1290272212 0.00001
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_005327.7(HADH):c.-36C>T rs746854470 0.00001
NM_005327.7(HADH):c.126T>G (p.Ile42Met) rs1264862903 0.00001
NM_005327.7(HADH):c.159A>G (p.Val53=) rs148846625 0.00001
NM_005327.7(HADH):c.171C>A (p.Asp57Glu) rs137853102 0.00001
NM_005327.7(HADH):c.266G>A (p.Gly89Asp) rs1292646768 0.00001
NM_005327.7(HADH):c.280G>C (p.Glu94Gln) rs1274785101 0.00001
NM_005327.7(HADH):c.283A>G (p.Lys95Glu) rs536173298 0.00001
NM_005327.7(HADH):c.406A>G (p.Lys136Glu) rs1262186453 0.00001
NM_005327.7(HADH):c.449C>T (p.Ser150Phe) rs1735809175 0.00001
NM_005327.7(HADH):c.494G>A (p.Arg165Gln) rs768880930 0.00001
NM_005327.7(HADH):c.707G>A (p.Arg236Gln) rs748945961 0.00001
NM_005327.7(HADH):c.72G>A (p.Lys24=) rs781319494 0.00001
NM_005327.7(HADH):c.761A>G (p.Tyr254Cys) rs771071992 0.00001
NM_005327.7(HADH):c.823G>A (p.Asp275Asn) rs150766162 0.00001
NM_005327.7(HADH):c.889G>A (p.Val297Ile) rs376876153 0.00001
NM_175914.5(HNF4A):c.*2511A>G rs1277613130 0.00001
NM_175914.5(HNF4A):c.*2558T>C rs886056688 0.00001
NM_175914.5(HNF4A):c.*2639T>G rs886056690 0.00001
NM_175914.5(HNF4A):c.*3120T>C rs886056704 0.00001
NM_175914.5(HNF4A):c.*765G>A rs886056681 0.00001
NM_175914.5(HNF4A):c.*782G>A rs886056682 0.00001
NM_175914.5(HNF4A):c.321C>T (p.Ala107=) rs138290205 0.00001
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly) rs779555087 0.00001
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys) rs771156648 0.00001
NM_175914.5(HNF4A):c.723G>C (p.Arg241=) rs372639360 0.00001
GRCh37/hg19 11p15.1(chr11:17448546-17453841)x3
NC_000004.11:g.(?_108816710)_(108955513_?)dup
NC_000004.11:g.(?_108911069)_(108955533_?)dup
NC_000010.10:g.(?_88811508)_(88822612_?)dup
NC_000010.10:g.(?_88854062)_(88854526_?)del
NM_000162.5(GCK):c.*12G>A
NM_000162.5(GCK):c.*270C>T rs886062348
NM_000162.5(GCK):c.*548G>A rs886062347
NM_000162.5(GCK):c.*721C>T rs886062346
NM_000162.5(GCK):c.*844A>C rs886062344
NM_000162.5(GCK):c.-102G>C rs781377703
NM_000162.5(GCK):c.-137C>G rs2096324530
NM_000162.5(GCK):c.-396C>G rs2096324894
NM_000162.5(GCK):c.-456G>A rs757266656
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.1120G>T (p.Val374Leu) rs1415041911
NM_000162.5(GCK):c.1230C>T (p.Gly410=)
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.1262A>G (p.Glu421Gly) rs1257648811
NM_000162.5(GCK):c.1274C>A (p.Ala425Asp)
NM_000162.5(GCK):c.12_13del (p.Asp4fs)
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)
NM_000162.5(GCK):c.237G>A (p.Leu79=)
NM_000162.5(GCK):c.278A>C (p.Glu93Ala)
NM_000162.5(GCK):c.28G>A (p.Ala10Thr)
NM_000162.5(GCK):c.315C>A (p.His105Gln)
NM_000162.5(GCK):c.343A>G (p.Met115Val)
NM_000162.5(GCK):c.363+10G>C rs758495950
NM_000162.5(GCK):c.364-14C>T
NM_000162.5(GCK):c.46-3C>T
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.675C>T (p.Ile225=) rs772754004
NM_000162.5(GCK):c.680-14G>C rs577968084
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)
NM_000162.5(GCK):c.792C>A (p.Gly264=) rs754094813
NM_000162.5(GCK):c.835G>C (p.Glu279Gln) rs104894005
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_000208.4(INSR):c.1266T>C (p.Ile422=)
NM_000208.4(INSR):c.1610+5G>A
NM_000208.4(INSR):c.1973T>G (p.Phe658Cys)
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.704G>T (p.Cys235Phe)
NM_000352.6(ABCC8):c.*93T>A rs886048046
NM_000352.6(ABCC8):c.1011+17del
NM_000352.6(ABCC8):c.1012-7C>G
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg) rs763028380
NM_000352.6(ABCC8):c.1064C>A (p.Ala355Asp)
NM_000352.6(ABCC8):c.1069G>A (p.Val357Ile)
NM_000352.6(ABCC8):c.106C>T (p.His36Tyr)
NM_000352.6(ABCC8):c.107A>G (p.His36Arg)
NM_000352.6(ABCC8):c.1096C>T (p.Leu366Phe) rs1956875186
NM_000352.6(ABCC8):c.1112C>T (p.Thr371Ile)
NM_000352.6(ABCC8):c.1123G>A (p.Ala375Thr)
NM_000352.6(ABCC8):c.115_123del (p.Leu39_Phe41del) rs1554949238
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_000352.6(ABCC8):c.1215C>T (p.Ser405=) rs1956635063
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.126_146dup (p.Thr43_Ile49dup) rs1554949190
NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val) rs1956631543
NM_000352.6(ABCC8):c.1287G>A (p.Met429Ile)
NM_000352.6(ABCC8):c.1332+17G>C rs193922395
NM_000352.6(ABCC8):c.1332+3A>G
NM_000352.6(ABCC8):c.1343G>C (p.Gly448Ala)
NM_000352.6(ABCC8):c.1391C>T (p.Ala464Val) rs1554933525
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.145A>T (p.Ile49Phe) rs1554949196
NM_000352.6(ABCC8):c.1468-14G>A
NM_000352.6(ABCC8):c.1468-52G>A
NM_000352.6(ABCC8):c.154G>A (p.Gly52Arg)
NM_000352.6(ABCC8):c.1555C>T (p.Arg519Cys)
NM_000352.6(ABCC8):c.1570A>G (p.Thr524Ala)
NM_000352.6(ABCC8):c.1571C>T (p.Thr524Met)
NM_000352.6(ABCC8):c.1571_1588del (p.Thr524_Glu529del)
NM_000352.6(ABCC8):c.1577G>A (p.Arg526His)
NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu) rs144481621
NM_000352.6(ABCC8):c.1585_1587del (p.Glu529del) rs1554933031
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=) rs886048055
NM_000352.6(ABCC8):c.1630+5G>T rs1956364777
NM_000352.6(ABCC8):c.1672-20A>G rs931436550
NM_000352.6(ABCC8):c.1672-473T>G
NM_000352.6(ABCC8):c.1682G>A (p.Gly561Asp)
NM_000352.6(ABCC8):c.1687G>A (p.Val563Ile) rs1554926621
NM_000352.6(ABCC8):c.1717C>T (p.Pro573Ser)
NM_000352.6(ABCC8):c.171G>C (p.Lys57Asn)
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.1844C>G (p.Ser615Cys)
NM_000352.6(ABCC8):c.1900C>G (p.Pro634Ala)
NM_000352.6(ABCC8):c.1913A>C (p.Tyr638Ser)
NM_000352.6(ABCC8):c.1924-18C>A
NM_000352.6(ABCC8):c.1957C>T (p.Arg653Trp)
NM_000352.6(ABCC8):c.1962G>C (p.Glu654Asp)
NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn)
NM_000352.6(ABCC8):c.2030G>A (p.Cys677Tyr)
NM_000352.6(ABCC8):c.2041-12C>A rs201419039
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2041-25G>A rs1554924660
NM_000352.6(ABCC8):c.2054A>G (p.Tyr685Cys)
NM_000352.6(ABCC8):c.2073T>A (p.Asp691Glu)
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg) rs764349043
NM_000352.6(ABCC8):c.2105G>A (p.Arg702His)
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.2163G>T (p.Ser721=) rs201724038
NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe)
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro) rs1402090677
NM_000352.6(ABCC8):c.2176G>T (p.Ala726Ser)
NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg) rs1554924079
NM_000352.6(ABCC8):c.2191C>G (p.Gln731Glu)
NM_000352.6(ABCC8):c.2222+15C>A rs377174421
NM_000352.6(ABCC8):c.2256-9C>T rs886048052
NM_000352.6(ABCC8):c.2256C>T (p.Ser752=)
NM_000352.6(ABCC8):c.2278G>A (p.Asp760Asn)
NM_000352.6(ABCC8):c.2305G>A (p.Val769Met)
NM_000352.6(ABCC8):c.2309C>G (p.Ala770Gly)
NM_000352.6(ABCC8):c.2350GAG[1] (p.Glu785del)
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.2434G>A (p.Asp812Asn)
NM_000352.6(ABCC8):c.2449G>A (p.Gly817Arg)
NM_000352.6(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu) rs1554916621
NM_000352.6(ABCC8):c.2465T>C (p.Ile822Thr)
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.2539G>A (p.Ala847Thr) rs561593131
NM_000352.6(ABCC8):c.2543A>G (p.Asn848Ser)
NM_000352.6(ABCC8):c.2572G>A (p.Ala858Thr)
NM_000352.6(ABCC8):c.259_262del (p.Cys87fs) rs2133728495
NM_000352.6(ABCC8):c.2630G>A (p.Arg877Gln)
NM_000352.6(ABCC8):c.2680C>T (p.Pro894Ser)
NM_000352.6(ABCC8):c.2684A>T (p.His895Leu)
NM_000352.6(ABCC8):c.2694+3G>A rs1554914779
NM_000352.6(ABCC8):c.2694+4A>T rs1554914771
NM_000352.6(ABCC8):c.2699T>C (p.Ile900Thr)
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.291-5C>T rs2133711631
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.2960C>T (p.Ser987Phe)
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.298G>A (p.Glu100Lys)
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.6(ABCC8):c.3001G>A (p.Ala1001Thr)
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.3076C>T (p.Leu1026=) rs1354438772
NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn) rs1225850029
NM_000352.6(ABCC8):c.3117C>A (p.Ser1039Arg)
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.3243_3251del (p.Ser1082_Thr1084del) rs1271445653
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro) rs1352191146
NM_000352.6(ABCC8):c.3327G>C (p.Met1109Ile)
NM_000352.6(ABCC8):c.3330-13G>A
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.3398A>G (p.Gln1133Arg)
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3455C>A (p.Ala1152Asp) rs1354859002
NM_000352.6(ABCC8):c.3457C>A (p.Leu1153Met)
NM_000352.6(ABCC8):c.3470_3472del (p.Ser1157del) rs1554910736
NM_000352.6(ABCC8):c.3484G>A (p.Val1162Met)
NM_000352.6(ABCC8):c.3515T>A (p.Ile1172Asn)
NM_000352.6(ABCC8):c.3558-6C>G rs886048050
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+4C>G rs374315114
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.3705T>C (p.Ile1235=) rs886048049
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg) rs1554906790
NM_000352.6(ABCC8):c.3759_3767dup (p.Ile1254_Ala1256dup) rs1554906427
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.6(ABCC8):c.3775G>A (p.Val1259Met)
NM_000352.6(ABCC8):c.3777G>T (p.Val1259=)
NM_000352.6(ABCC8):c.3788C>A (p.Ala1263Glu) rs772094360
NM_000352.6(ABCC8):c.3799A>G (p.Ile1267Val)
NM_000352.6(ABCC8):c.3837G>A (p.Leu1279=)
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser) rs763104338
NM_000352.6(ABCC8):c.3893T>A (p.Val1298Glu)
NM_000352.6(ABCC8):c.389C>G (p.Ser130Cys)
NM_000352.6(ABCC8):c.3905C>T (p.Ala1302Val) rs1340859533
NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)
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.3989-3C>G rs1324242791
NM_000352.6(ABCC8):c.4012T>A (p.Trp1338Arg) rs1554905805
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met) rs886039301
NM_000352.6(ABCC8):c.4034A>G (p.Gln1345Arg)
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
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.4096G>A (p.Ala1366Thr) rs1554905695
NM_000352.6(ABCC8):c.4097C>A (p.Ala1366Asp) rs746811190
NM_000352.6(ABCC8):c.4105G>A (p.Ala1369Thr)
NM_000352.6(ABCC8):c.4115AGA[1] (p.Lys1373del) rs1554905655
NM_000352.6(ABCC8):c.4123G>A (p.Gly1375Arg)
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.6(ABCC8):c.4140C>A (p.Thr1380=)
NM_000352.6(ABCC8):c.4171T>G (p.Phe1391Val) rs1953897394
NM_000352.6(ABCC8):c.4198+3G>T
NM_000352.6(ABCC8):c.4199-8C>T rs886048048
NM_000352.6(ABCC8):c.4207A>G (p.Ile1403Val)
NM_000352.6(ABCC8):c.421G>A (p.Val141Met)
NM_000352.6(ABCC8):c.4228G>A (p.Ala1410Thr)
NM_000352.6(ABCC8):c.4253G>T (p.Arg1418Leu) rs1446306735
NM_000352.6(ABCC8):c.4297G>C (p.Gly1433Arg)
NM_000352.6(ABCC8):c.4307+13A>C rs886048047
NM_000352.6(ABCC8):c.4324G>A (p.Glu1442Lys)
NM_000352.6(ABCC8):c.4326G>C (p.Glu1442Asp)
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.4361T>G (p.Leu1454Arg) rs2133398519
NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val) rs1953847411
NM_000352.6(ABCC8):c.4411+18T>G
NM_000352.6(ABCC8):c.443T>C (p.Ile148Thr)
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg) rs1554904107
NM_000352.6(ABCC8):c.4456A>G (p.Arg1486Gly)
NM_000352.6(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del) rs1554904088
NM_000352.6(ABCC8):c.4486G>A (p.Val1496Met)
NM_000352.6(ABCC8):c.4498A>G (p.Ser1500Gly)
NM_000352.6(ABCC8):c.4563G>C (p.Lys1521Asn) rs142272833
NM_000352.6(ABCC8):c.4601C>A (p.Thr1534Asn)
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=) rs780203284
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.6(ABCC8):c.4649T>A (p.Val1550Asp)
NM_000352.6(ABCC8):c.4657C>T (p.Arg1553Trp)
NM_000352.6(ABCC8):c.4702C>T (p.Arg1568Trp)
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala) rs764950519
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln) rs1554943599
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys) rs919281813
NM_000352.6(ABCC8):c.579+2T>A rs1449198328
NM_000352.6(ABCC8):c.580-7C>A rs771196330
NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn) rs1957204723
NM_000352.6(ABCC8):c.589TTC[1] (p.Phe198del) rs772409200
NM_000352.6(ABCC8):c.61G>A (p.Val21Ile)
NM_000352.6(ABCC8):c.643G>T (p.Val215Leu)
NM_000352.6(ABCC8):c.664G>A (p.Val222Met)
NM_000352.6(ABCC8):c.689A>G (p.Tyr230Cys)
NM_000352.6(ABCC8):c.691T>C (p.Trp231Arg) rs1554942704
NM_000352.6(ABCC8):c.703G>A (p.Ala235Thr)
NM_000352.6(ABCC8):c.713A>G (p.Lys238Arg)
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys) rs771075821
NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr) rs1433841842
NM_000352.6(ABCC8):c.73G>A (p.Gly25Ser)
NM_000352.6(ABCC8):c.743G>A (p.Arg248Gln)
NM_000352.6(ABCC8):c.74G>T (p.Gly25Val) rs763302648
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.7C>G (p.Leu3Val)
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp) rs372930264
NM_000352.6(ABCC8):c.814G>A (p.Ala272Thr)
NM_000352.6(ABCC8):c.823-7T>A rs1554942148
NM_000352.6(ABCC8):c.823C>T (p.Arg275Trp)
NM_000352.6(ABCC8):c.868G>C (p.Ala290Pro)
NM_000352.6(ABCC8):c.874A>G (p.Ser292Gly)
NM_000352.6(ABCC8):c.878A>C (p.His293Pro) rs587783175
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.917G>A (p.Arg306His) rs1409900082
NM_000352.6(ABCC8):c.929A>T (p.Asp310Val)
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu) rs768372267
NM_000352.6(ABCC8):c.984G>T (p.Gly328=)
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.4(KCNJ11):c.*1037G>T rs767140617
NM_000525.4(KCNJ11):c.*1415G>A rs955060881
NM_000525.4(KCNJ11):c.*50G>A rs886048041
NM_000525.4(KCNJ11):c.*678C>T rs886048036
NM_000525.4(KCNJ11):c.*732C>T rs886048035
NM_000525.4(KCNJ11):c.*842C>G rs1591693562
NM_000525.4(KCNJ11):c.*937C>T rs886048033
NM_000525.4(KCNJ11):c.*99C>G rs886048040
NM_000525.4(KCNJ11):c.-135_-134insCT rs1554901983
NM_000525.4(KCNJ11):c.-150G>A rs886048043
NM_000525.4(KCNJ11):c.-424C>T rs1953601577
NM_000525.4(KCNJ11):c.-559G>C rs547932593
NM_000525.4(KCNJ11):c.1033A>G (p.Thr345Ala)
NM_000525.4(KCNJ11):c.1046T>C (p.Leu349Pro)
NM_000525.4(KCNJ11):c.1058A>G (p.His353Arg)
NM_000525.4(KCNJ11):c.1060A>G (p.Ser354Gly)
NM_000525.4(KCNJ11):c.1096G>A (p.Gly366Arg)
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys) rs543286136
NM_000525.4(KCNJ11):c.1105C>A (p.Arg369Ser)
NM_000525.4(KCNJ11):c.110C>G (p.Ser37Cys)
NM_000525.4(KCNJ11):c.1121C>G (p.Pro374Arg)
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp) rs1001873841
NM_000525.4(KCNJ11):c.156G>A (p.Gln52=) rs1953591194
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His) rs587783666
NM_000525.4(KCNJ11):c.179T>A (p.Phe60Tyr) rs387906783
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.264G>T (p.Met88Ile) rs1554901866
NM_000525.4(KCNJ11):c.293G>A (p.Gly98Asp)
NM_000525.4(KCNJ11):c.325C>T (p.Pro109Ser)
NM_000525.4(KCNJ11):c.344A>G (p.His115Arg)
NM_000525.4(KCNJ11):c.430C>G (p.Leu144Val)
NM_000525.4(KCNJ11):c.433G>T (p.Ala145Ser)
NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg) rs1404429785
NM_000525.4(KCNJ11):c.46C>T (p.Arg16Cys)
NM_000525.4(KCNJ11):c.525C>A (p.His175Gln) rs865963367
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.4(KCNJ11):c.617G>T (p.Arg206Leu) rs1554901747
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
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.655G>T (p.Val219Leu)
NM_000525.4(KCNJ11):c.65C>T (p.Ala22Val)
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His) rs768909861
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.741C>T (p.Asn247=) rs886048042
NM_000525.4(KCNJ11):c.758C>T (p.Ala253Val)
NM_000525.4(KCNJ11):c.794G>T (p.Ser265Ile) rs1437510576
NM_000525.4(KCNJ11):c.797C>T (p.Pro266Leu) rs1554901679
NM_000525.4(KCNJ11):c.814C>T (p.Pro272Ser)
NM_000525.4(KCNJ11):c.817A>G (p.Ser273Gly)
NM_000525.4(KCNJ11):c.841_843del (p.Leu281del) rs1554901658
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met) rs750414160
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)
NM_003051.3(SLC16A1):c.-214C>G rs183726141
NM_003051.3(SLC16A1):c.-226G>A rs886045089
NM_003051.3(SLC16A1):c.-249C>T rs60953496
NM_003051.3(SLC16A1):c.-313T>C rs886045090
NM_003051.3(SLC16A1):c.-314A>G rs886045091
NM_003051.3(SLC16A1):c.-316G>A rs1313637478
NM_003051.4(SLC16A1):c.*1044T>G rs1190989254
NM_003051.4(SLC16A1):c.*1051G>A rs886045064
NM_003051.4(SLC16A1):c.*1064G>T rs886045063
NM_003051.4(SLC16A1):c.*1071T>C rs1648368024
NM_003051.4(SLC16A1):c.*1072G>T rs886045062
NM_003051.4(SLC16A1):c.*361G>T rs1407575522
NM_003051.4(SLC16A1):c.*739T>C rs570060559
NM_003051.4(SLC16A1):c.*739T>G rs570060559
NM_003051.4(SLC16A1):c.1079C>G (p.Ala360Gly)
NM_003051.4(SLC16A1):c.1228+6G>A rs190615745
NM_003051.4(SLC16A1):c.1430T>C (p.Val477Ala) rs886045067
NM_003051.4(SLC16A1):c.489C>A (p.Pro163=) rs145916504
NM_003051.4(SLC16A1):c.508G>A (p.Gly170Ser) rs200143982
NM_003051.4(SLC16A1):c.527G>A (p.Gly176Glu) rs766830652
NM_003051.4(SLC16A1):c.72T>A (p.Ile24=) rs760137043
NM_003051.4(SLC16A1):c.785G>C (p.Gly262Ala)
NM_003051.4(SLC16A1):c.983G>T (p.Arg328Leu) rs774823539
NM_005271.5(GLUD1):c.*1139T>C rs1845608491
NM_005271.5(GLUD1):c.*1211T>C rs1845605578
NM_005271.5(GLUD1):c.*1252T>C rs886047371
NM_005271.5(GLUD1):c.*1515A>G rs1845594094
NM_005271.5(GLUD1):c.*1545C>T rs886047367
NM_005271.5(GLUD1):c.*205A>G rs886047373
NM_005271.5(GLUD1):c.*64T>C rs760101776
NM_005271.5(GLUD1):c.*64T>G rs760101776
NM_005271.5(GLUD1):c.*868A>C rs1430742705
NM_005271.5(GLUD1):c.-44C>T rs886047379
NM_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)
NM_005271.5(GLUD1):c.1063C>T (p.His355Tyr)
NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)
NM_005271.5(GLUD1):c.1078_1079insAGTCCATTCTGG (p.Leu359_Gly360insGluSerIleLeu) rs1845910499
NM_005271.5(GLUD1):c.107A>G (p.Gln36Arg)
NM_005271.5(GLUD1):c.1096C>T (p.Pro366Ser)
NM_005271.5(GLUD1):c.1111A>G (p.Ile371Val) rs2133795523
NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val) rs1589358775
NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)
NM_005271.5(GLUD1):c.1197+5C>A
NM_005271.5(GLUD1):c.1198-11CT[2] rs753448342
NM_005271.5(GLUD1):c.1198-6T>C rs1415334667
NM_005271.5(GLUD1):c.1225A>G (p.Thr409Ala)
NM_005271.5(GLUD1):c.122_148del (p.Pro41_Ala49del)
NM_005271.5(GLUD1):c.1249T>A (p.Phe417Ile) rs2133794123
NM_005271.5(GLUD1):c.1279-3T>C rs1845868081
NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)
NM_005271.5(GLUD1):c.1379G>C (p.Arg460Thr) rs2133792215
NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu) rs2133792192
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu) rs1169592069
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu) rs2133788907
NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu) rs2133788865
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser) rs121909733
NM_005271.5(GLUD1):c.1557+12G>A rs201872390
NM_005271.5(GLUD1):c.1558-5T>A
NM_005271.5(GLUD1):c.1567C>T (p.Arg523Cys)
NM_005271.5(GLUD1):c.1568G>T (p.Arg523Leu)
NM_005271.5(GLUD1):c.1628T>C (p.Ile543Thr)
NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala) rs2133773089
NM_005271.5(GLUD1):c.178C>A (p.Arg60Ser)
NM_005271.5(GLUD1):c.203A>G (p.Lys68Arg)
NM_005271.5(GLUD1):c.212A>C (p.Glu71Ala)
NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys) rs1841666156
NM_005271.5(GLUD1):c.240C>G (p.Ile80Met) rs2133874774
NM_005271.5(GLUD1):c.247G>A (p.Asp83Asn)
NM_005271.5(GLUD1):c.287A>G (p.Glu96Gly)
NM_005271.5(GLUD1):c.307C>G (p.Arg103Gly)
NM_005271.5(GLUD1):c.37C>T (p.Arg13Trp)
NM_005271.5(GLUD1):c.398A>G (p.Glu133Gly)
NM_005271.5(GLUD1):c.3G>A (p.Met1Ile) rs1294286511
NM_005271.5(GLUD1):c.415C>T (p.His139Tyr) rs2133873984
NM_005271.5(GLUD1):c.446-5634T>C rs1841280208
NM_005271.5(GLUD1):c.446-7CCA[4] rs753723749
NM_005271.5(GLUD1):c.455dup (p.Tyr152Ter)
NM_005271.5(GLUD1):c.49G>A (p.Ala17Thr)
NM_005271.5(GLUD1):c.500TGA[1] (p.Met168del)
NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)
NM_005271.5(GLUD1):c.546T>C (p.Ala182=) rs886047378
NM_005271.5(GLUD1):c.615C>G (p.Phe205Leu)
NM_005271.5(GLUD1):c.655A>G (p.Ile219Val)
NM_005271.5(GLUD1):c.677T>G (p.Met226Arg) rs886047377
NM_005271.5(GLUD1):c.719A>G (p.Tyr240Cys)
NM_005271.5(GLUD1):c.757G>A (p.Ala253Thr)
NM_005271.5(GLUD1):c.778A>G (p.Ile260Val)
NM_005271.5(GLUD1):c.803G>A (p.Arg268His)
NM_005271.5(GLUD1):c.806T>C (p.Ile269Thr)
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr) rs1845968579
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter) rs886047375
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys) rs121909736
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr) rs121909736
NM_005271.5(GLUD1):c.955T>A (p.Tyr319Asn)
NM_005271.5(GLUD1):c.962A>G (p.His321Arg)
NM_005327.4(HADH):c.-195A>C rs886058979
NM_005327.4(HADH):c.-195A>G rs886058979
NM_005327.4(HADH):c.-56C>A rs770197760
NM_005327.7(HADH):c.*661dup rs886058981
NM_005327.7(HADH):c.100G>A (p.Gly34Ser) rs779135938
NM_005327.7(HADH):c.106G>C (p.Gly36Arg) rs994692222
NM_005327.7(HADH):c.132+6C>G rs772843585
NM_005327.7(HADH):c.132G>A (p.Gln44=)
NM_005327.7(HADH):c.134T>C (p.Val45Ala)
NM_005327.7(HADH):c.21G>A (p.Gln7=) rs886058980
NM_005327.7(HADH):c.220C>T (p.Leu74Phe) rs1735422340
NM_005327.7(HADH):c.235AAG[2] (p.Lys81del) rs763318550
NM_005327.7(HADH):c.243G>T (p.Lys81Asn)
NM_005327.7(HADH):c.264C>T (p.Ala88=) rs201324954
NM_005327.7(HADH):c.291G>T (p.Leu97=) rs552317372
NM_005327.7(HADH):c.311C>T (p.Thr104Met)
NM_005327.7(HADH):c.316G>A (p.Ala106Thr)
NM_005327.7(HADH):c.32C>T (p.Ser11Phe)
NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs) rs766656997
NM_005327.7(HADH):c.380A>G (p.Lys127Arg) rs1735626197
NM_005327.7(HADH):c.388C>T (p.Leu130Phe)
NM_005327.7(HADH):c.420A>T (p.Glu140Asp)
NM_005327.7(HADH):c.422A>G (p.His141Arg)
NM_005327.7(HADH):c.427A>G (p.Ile143Val)
NM_005327.7(HADH):c.443C>T (p.Thr148Ile)
NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)
NM_005327.7(HADH):c.50C>T (p.Thr17Ile)
NM_005327.7(HADH):c.533T>A (p.Met178Lys)
NM_005327.7(HADH):c.590T>G (p.Leu197Trp)
NM_005327.7(HADH):c.643C>T (p.Pro215Ser) rs140413151
NM_005327.7(HADH):c.688G>A (p.Ala230Thr) rs780574282
NM_005327.7(HADH):c.705A>C (p.Glu235Asp)
NM_005327.7(HADH):c.710-822C>A rs183387994
NM_005327.7(HADH):c.715G>T (p.Ala239Ser) rs746680125
NM_005327.7(HADH):c.725A>G (p.Glu242Gly) rs1736337186
NM_005327.7(HADH):c.740C>T (p.Ala247Val) rs1736337431
NM_005327.7(HADH):c.796G>A (p.Gly266Arg)
NM_005327.7(HADH):c.805A>G (p.Thr269Ala) rs1736341112
NM_005327.7(HADH):c.806C>G (p.Thr269Ser) rs754403207
NM_005327.7(HADH):c.806C>T (p.Thr269Ile)
NM_005327.7(HADH):c.825T>C (p.Asp275=)
NM_005327.7(HADH):c.825T>G (p.Asp275Glu) rs1736344235
NM_005327.7(HADH):c.832C>T (p.His278Tyr)
NM_005327.7(HADH):c.875C>T (p.Ser292Phe)
NM_005327.7(HADH):c.8T>C (p.Phe3Ser) rs2126215379
NM_005327.7(HADH):c.906C>G (p.Phe302Leu)
NM_175914.5(HNF4A):c.*1106G>A rs753675648
NM_175914.5(HNF4A):c.*145T>A rs200905283
NM_175914.5(HNF4A):c.*1809C>G rs2063876979
NM_175914.5(HNF4A):c.*1826G>A rs1763003018
NM_175914.5(HNF4A):c.*2167T>G rs886056687
NM_175914.5(HNF4A):c.*217C>T rs1019701119
NM_175914.5(HNF4A):c.*226C>A rs886056680
NM_175914.5(HNF4A):c.*2761G>C rs1212257046
NM_175914.5(HNF4A):c.*2782A>C rs1192263020
NM_175914.5(HNF4A):c.*3024C>T rs886056702
NM_175914.5(HNF4A):c.*3052G>A rs546761850
NM_175914.5(HNF4A):c.*3104A>C rs886056703
NM_175914.5(HNF4A):c.*35C>A rs1019496764
NM_175914.5(HNF4A):c.*965G>T rs886056683
NM_175914.5(HNF4A):c.*987G>T rs886056684
NM_175914.5(HNF4A):c.*993G>A rs2063867733
NM_175914.5(HNF4A):c.1290C>T (p.Ala430=) rs530389600
NM_175914.5(HNF4A):c.50-4630T>C rs2063407237

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