NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
|
rs1169305
|
0.98610
|
NM_000207.3(INS):c.187+11T>C
|
rs5506
|
0.93263
|
NM_000507.4(FBP1):c.960A>G (p.Gly320=)
|
rs1769257
|
0.88821
|
NM_006005.3(WFS1):c.997G>A (p.Val333Ile)
|
rs1801212
|
0.80149
|
NM_000352.6(ABCC8):c.2117-3C>T
|
rs1799854
|
0.36733
|
NM_000208.4(INSR):c.783C>T (p.Asp261=)
|
rs891087
|
0.11869
|
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)
|
rs8192695
|
0.06691
|
NM_002591.4(PCK1):c.611-16G>A
|
rs75308972
|
0.01788
|
NM_000208.4(INSR):c.653-7del
|
rs766817873
|
0.01724
|
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)
|
rs55758736
|
0.01485
|
NM_000207.3(INS):c.36G>A (p.Ala12=)
|
rs3842744
|
0.01335
|
NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala)
|
rs35154632
|
0.01104
|
NM_006005.3(WFS1):c.930A>G (p.Ala310=)
|
rs115561278
|
0.00845
|
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe)
|
rs114152068
|
0.00810
|
NM_006005.3(WFS1):c.2611G>A (p.Val871Met)
|
rs71532874
|
0.00761
|
NM_001715.3(BLK):c.102C>T (p.Asp34=)
|
rs75383960
|
0.00743
|
NM_005327.7(HADH):c.881A>G (p.Asn294Ser)
|
rs36030668
|
0.00738
|
NM_003597.5(KLF11):c.429C>T (p.Ala143=)
|
rs113903638
|
0.00679
|
NM_006005.3(WFS1):c.2335G>A (p.Val779Met)
|
rs141328044
|
0.00672
|
NM_138711.6(PPARG):c.1281A>G (p.Ser427=)
|
rs41516544
|
0.00627
|
NM_000207.3(INS):c.188-16C>T
|
rs5507
|
0.00616
|
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=)
|
rs61730328
|
0.00553
|
NM_001807.6(CEL):c.1833G>C (p.Gly611=)
|
rs1211933243
|
0.00547
|
NM_012096.3(APPL1):c.256T>C (p.Leu86=)
|
rs147166062
|
0.00501
|
NM_000162.5(GCK):c.339C>T (p.Asp113=)
|
rs149412035
|
0.00451
|
NM_005544.3(IRS1):c.2358T>C (p.His786=)
|
rs137866175
|
0.00443
|
NM_175914.5(HNF4A):c.669A>G (p.Leu223=)
|
rs139591750
|
0.00425
|
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala)
|
rs535090775
|
0.00423
|
NM_000545.8(HNF1A):c.326+6_326+10dup
|
rs56158114
|
0.00415
|
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val)
|
rs116216229
|
0.00409
|
NM_001040716.2(PC):c.85G>A (p.Val29Ile)
|
rs45471099
|
0.00394
|
NM_001807.6(CEL):c.402C>G (p.Gly134=)
|
rs150358550
|
0.00392
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_000162.5(GCK):c.1019+18G>A
|
rs150914617
|
0.00322
|
NM_001042413.2(GLIS3):c.1318A>G (p.Thr440Ala)
|
rs80161424
|
0.00314
|
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu)
|
rs35776173
|
0.00300
|
NM_000162.5(GCK):c.954G>C (p.Gly318=)
|
rs145764627
|
0.00287
|
NM_000207.3(INS):c.188-10G>A
|
rs41275198
|
0.00262
|
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)
|
rs6031592
|
0.00257
|
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln)
|
rs41264699
|
0.00249
|
NM_000162.5(GCK):c.333C>T (p.Pro111=)
|
rs61736250
|
0.00235
|
NM_000352.6(ABCC8):c.2391-17G>T
|
rs201484528
|
0.00206
|
NM_006005.3(WFS1):c.854G>A (p.Arg285His)
|
rs61735404
|
0.00205
|
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)
|
rs115346085
|
0.00204
|
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_003597.5(KLF11):c.86G>A (p.Arg29Gln)
|
rs150096859
|
0.00188
|
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)
|
rs3821945
|
0.00185
|
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=)
|
rs35789242
|
0.00183
|
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys)
|
rs146238335
|
0.00163
|
NM_006208.3(ENPP1):c.313+11_313+15del
|
rs771304080
|
0.00163
|
NM_003597.5(KLF11):c.225C>T (p.Val75=)
|
rs144083374
|
0.00158
|
NM_000208.4(INSR):c.2682+9C>G
|
rs41398545
|
0.00145
|
NM_001366110.1(PAX4):c.636C>T (p.Asp212=)
|
rs141407429
|
0.00131
|
NM_000458.4(HNF1B):c.951C>G (p.Ala317=)
|
rs145750370
|
0.00127
|
NM_000162.5(GCK):c.364-18A>G
|
rs191255582
|
0.00118
|
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)
|
rs147366495
|
0.00117
|
NM_000236.3(LIPC):c.1064A>G (p.Gln355Arg)
|
rs140272400
|
0.00112
|
NM_178161.3(PTF1A):c.386C>T (p.Ala129Val)
|
rs370163562
|
0.00109
|
NM_001807.6(CEL):c.1716C>G (p.Pro572=)
|
rs200152972
|
0.00108
|
NM_012096.3(APPL1):c.219T>C (p.Phe73=)
|
rs150282222
|
0.00108
|
NM_000352.6(ABCC8):c.1924-17C>T
|
rs117189973
|
0.00105
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_001042413.2(GLIS3):c.2340G>A (p.Arg780=)
|
rs147473975
|
0.00086
|
NM_001042413.2(GLIS3):c.744A>G (p.Leu248=)
|
rs139080385
|
0.00086
|
NM_001366110.1(PAX4):c.69T>C (p.Pro23=)
|
rs116124047
|
0.00085
|
NM_006005.3(WFS1):c.2184C>T (p.Gly728=)
|
rs71530908
|
0.00084
|
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)
|
rs5397
|
0.00083
|
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)
|
rs138996307
|
0.00081
|
NM_001366110.1(PAX4):c.144+16C>T
|
rs138902071
|
0.00080
|
NM_001807.6(CEL):c.1689A>G (p.Thr563=)
|
rs199941432
|
0.00079
|
NM_001807.6(CEL):c.1692G>T (p.Gly564=)
|
rs200716123
|
0.00079
|
NM_006005.3(WFS1):c.1143G>A (p.Leu381=)
|
rs151153967
|
0.00078
|
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)
|
rs145210664
|
0.00076
|
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_001715.3(BLK):c.1338C>G (p.Arg446=)
|
rs377160616
|
0.00073
|
NM_001807.6(CEL):c.1335C>T (p.Pro445=)
|
rs371892814
|
0.00073
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)
|
rs138687850
|
0.00072
|
NM_001807.6(CEL):c.1485-8C>T
|
rs185188893
|
0.00072
|
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=)
|
rs145880201
|
0.00062
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
NM_001040716.2(PC):c.496G>A (p.Val166Ile)
|
rs147697454
|
0.00060
|
NM_001042413.2(GLIS3):c.1260C>T (p.Pro420=)
|
rs377419083
|
0.00059
|
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)
|
rs146505280
|
0.00059
|
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_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
NM_005327.7(HADH):c.-115del
|
rs537335460
|
0.00053
|
NM_000507.4(FBP1):c.275C>T (p.Thr92Met)
|
rs141270413
|
0.00052
|
NM_001040716.2(PC):c.3391G>A (p.Val1131Met)
|
rs116518022
|
0.00051
|
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln)
|
rs115887120
|
0.00051
|
NM_001626.6(AKT2):c.282C>T (p.Asp94=)
|
rs139125633
|
0.00051
|
NM_000208.4(INSR):c.2573C>T (p.Thr858Met)
|
rs201466857
|
0.00048
|
NM_000162.5(GCK):c.46-5598A>T
|
rs13306393
|
0.00046
|
NM_175914.5(HNF4A):c.999C>T (p.Ile333=)
|
rs150247632
|
0.00045
|
NM_001042413.2(GLIS3):c.287C>T (p.Pro96Leu)
|
rs143425492
|
0.00043
|
NM_006005.3(WFS1):c.2085C>T (p.Gly695=)
|
rs150568382
|
0.00043
|
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val)
|
rs144492050
|
0.00042
|
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr)
|
rs564129447
|
0.00041
|
NM_003597.5(KLF11):c.1503G>A (p.Pro501=)
|
rs36091043
|
0.00040
|
NM_000340.2(SLC2A2):c.963+14C>T
|
rs189551647
|
0.00039
|
NM_175914.5(HNF4A):c.921C>T (p.Asp307=)
|
rs151168174
|
0.00039
|
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=)
|
rs1800854
|
0.00038
|
NM_001807.6(CEL):c.777+7G>A
|
rs200749469
|
0.00038
|
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser)
|
rs78433961
|
0.00036
|
NM_000352.6(ABCC8):c.2390+17G>C
|
rs200705248
|
0.00035
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_006005.3(WFS1):c.1610G>A (p.Cys537Tyr)
|
rs199910987
|
0.00034
|
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg)
|
rs141233896
|
0.00032
|
NM_006005.3(WFS1):c.1693C>G (p.Leu565Val)
|
rs200058166
|
0.00031
|
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn)
|
rs145677667
|
0.00031
|
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
|
rs113446173
|
0.00030
|
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr)
|
rs148028521
|
0.00029
|
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr)
|
rs147157374
|
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_000352.6(ABCC8):c.1923+3G>A
|
rs374869130
|
0.00028
|
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg)
|
rs147346173
|
0.00028
|
NM_001042413.2(GLIS3):c.2060C>T (p.Ser687Phe)
|
rs374929970
|
0.00027
|
NM_000458.4(HNF1B):c.1207-18T>C
|
rs199849203
|
0.00026
|
NM_001042413.2(GLIS3):c.2421C>G (p.Ser807=)
|
rs563920093
|
0.00026
|
NM_001042413.2(GLIS3):c.82A>G (p.Ile28Val)
|
rs113754532
|
0.00026
|
NM_006005.3(WFS1):c.1470C>T (p.Thr490=)
|
rs146027767
|
0.00025
|
NM_000162.5(GCK):c.208+17G>A
|
rs199822205
|
0.00024
|
NM_001366110.1(PAX4):c.762C>T (p.Ile254=)
|
rs147670794
|
0.00024
|
NM_001715.3(BLK):c.368+13G>A
|
rs199644751
|
0.00024
|
NM_006005.3(WFS1):c.1419C>T (p.Ser473=)
|
rs150997327
|
0.00024
|
NM_001042413.2(GLIS3):c.2096G>A (p.Arg699His)
|
rs149840771
|
0.00023
|
NM_006005.3(WFS1):c.2314C>T (p.Arg772Cys)
|
rs149540655
|
0.00023
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)
|
rs137852672
|
0.00022
|
NM_001042413.2(GLIS3):c.1327C>T (p.Leu443=)
|
rs529418802
|
0.00022
|
NM_001042413.2(GLIS3):c.2710G>A (p.Gly904Arg)
|
rs150310830
|
0.00022
|
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln)
|
rs115923648
|
0.00022
|
NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val)
|
rs115159138
|
0.00022
|
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)
|
rs201064551
|
0.00022
|
NM_006005.3(WFS1):c.2266C>T (p.Arg756Cys)
|
rs138127684
|
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_000545.8(HNF1A):c.1386C>T (p.Val462=)
|
rs143015301
|
0.00021
|
NM_001715.3(BLK):c.424A>G (p.Ile142Val)
|
rs562247916
|
0.00021
|
NM_006005.3(WFS1):c.712+19C>T
|
rs376973865
|
0.00021
|
NM_006208.3(ENPP1):c.*128C>T
|
rs371896132
|
0.00021
|
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr)
|
rs77131926
|
0.00020
|
NM_000545.8(HNF1A):c.1108-4G>A
|
rs372892932
|
0.00020
|
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=)
|
rs118028009
|
0.00020
|
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys)
|
rs112967046
|
0.00020
|
NM_006005.3(WFS1):c.712+8C>T
|
rs369185545
|
0.00020
|
NM_006005.3(WFS1):c.762C>T (p.Tyr254=)
|
rs140266808
|
0.00020
|
NM_000207.3(INS):c.-153C>G
|
rs915076855
|
0.00019
|
NM_000207.3(INS):c.17G>A (p.Arg6His)
|
rs121908259
|
0.00019
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
NM_001042413.2(GLIS3):c.1154G>T (p.Gly385Val)
|
rs200959196
|
0.00019
|
NM_001042413.2(GLIS3):c.2746G>A (p.Val916Met)
|
rs151140581
|
0.00019
|
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys)
|
rs200095753
|
0.00019
|
NM_006005.3(WFS1):c.1377G>A (p.Leu459=)
|
rs143672793
|
0.00019
|
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu)
|
rs373862003
|
0.00019
|
NM_006005.3(WFS1):c.315+18G>A
|
rs375473654
|
0.00019
|
NM_175914.5(HNF4A):c.576C>T (p.Asp192=)
|
rs759574096
|
0.00019
|
NM_175914.5(HNF4A):c.724G>A (p.Val242Met)
|
rs139779712
|
0.00019
|
NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=)
|
rs5408
|
0.00018
|
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)
|
rs147400498
|
0.00018
|
NM_002500.5(NEUROD1):c.1031G>A (p.Arg344Gln)
|
rs146389992
|
0.00018
|
NM_006005.3(WFS1):c.2622C>T (p.Ala874=)
|
rs141052196
|
0.00018
|
NM_000352.6(ABCC8):c.2888A>G (p.Asp963Gly)
|
rs538013271
|
0.00017
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
NM_001807.6(CEL):c.1677T>C (p.Pro559=)
|
rs527908529
|
0.00017
|
NM_006005.3(WFS1):c.1755C>T (p.Phe585=)
|
rs1801210
|
0.00017
|
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu)
|
rs145868241
|
0.00017
|
NM_000352.6(ABCC8):c.4412-14C>T
|
rs193922404
|
0.00016
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
NM_001042413.2(GLIS3):c.1330C>T (p.Pro444Ser)
|
rs755318788
|
0.00016
|
NM_003597.5(KLF11):c.992G>T (p.Gly331Val)
|
rs151317435
|
0.00016
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys)
|
rs200099217
|
0.00016
|
NM_006005.3(WFS1):c.2365G>A (p.Gly789Ser)
|
rs376974936
|
0.00016
|
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys)
|
rs148089728
|
0.00016
|
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr)
|
rs147724970
|
0.00016
|
NM_006005.3(WFS1):c.801C>T (p.Asp267=)
|
rs147734431
|
0.00016
|
NM_006005.3(WFS1):c.825G>A (p.Ala275=)
|
rs566634291
|
0.00016
|
NM_006208.3(ENPP1):c.2114C>T (p.Thr705Met)
|
rs138032713
|
0.00016
|
NC_000012.12:g.120978511A>G
|
rs756136537
|
0.00015
|
NM_001042413.2(GLIS3):c.275C>T (p.Thr92Ile)
|
rs375931960
|
0.00015
|
NM_001366110.1(PAX4):c.563-11G>A
|
rs376403180
|
0.00015
|
NM_001715.3(BLK):c.1351G>A (p.Gly451Ser)
|
rs199605698
|
0.00015
|
NM_003597.5(KLF11):c.437C>T (p.Ala146Val)
|
rs148968483
|
0.00015
|
NM_006005.3(WFS1):c.71G>A (p.Arg24His)
|
rs71524364
|
0.00015
|
NM_000458.4(HNF1B):c.1046-12G>A
|
rs201751705
|
0.00014
|
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)
|
rs148492494
|
0.00014
|
NM_001042413.2(GLIS3):c.1227C>A (p.Asn409Lys)
|
rs534295783
|
0.00014
|
NM_001042413.2(GLIS3):c.2636C>T (p.Ser879Leu)
|
rs200265407
|
0.00014
|
NM_001366110.1(PAX4):c.345G>A (p.Gln115=)
|
rs115157546
|
0.00014
|
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys)
|
rs144993516
|
0.00014
|
NM_006005.3(WFS1):c.2054G>A (p.Arg685His)
|
rs142668478
|
0.00014
|
NM_000209.4(PDX1):c.296C>A (p.Pro99His)
|
rs764870332
|
0.00013
|
NM_001042413.2(GLIS3):c.2339G>A (p.Arg780Gln)
|
rs200694226
|
0.00013
|
NM_002500.5(NEUROD1):c.195C>T (p.Asp65=)
|
rs147643871
|
0.00013
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_006005.3(WFS1):c.1492G>A (p.Val498Ile)
|
rs71524358
|
0.00013
|
NM_000209.4(PDX1):c.841G>C (p.Glu281Gln)
|
rs1357043267
|
0.00012
|
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro)
|
rs376341411
|
0.00012
|
NM_006005.3(WFS1):c.728C>T (p.Ala243Val)
|
rs147147660
|
0.00012
|
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His)
|
rs199890118
|
0.00012
|
NM_000162.5(GCK):c.649G>A (p.Asp217Asn)
|
rs147065275
|
0.00011
|
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)
|
rs137852785
|
0.00011
|
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln)
|
rs368114790
|
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_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)
|
rs752219487
|
0.00011
|
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
|
rs755385132
|
0.00011
|
NM_001042413.2(GLIS3):c.1994G>A (p.Ser665Asn)
|
rs199817194
|
0.00011
|
NM_001715.3(BLK):c.772+16C>T
|
rs200129390
|
0.00011
|
NM_001715.3(BLK):c.809C>T (p.Thr270Met)
|
rs368427116
|
0.00011
|
NM_001807.6(CEL):c.358G>A (p.Val120Ile)
|
rs201336247
|
0.00011
|
NM_003597.5(KLF11):c.358A>G (p.Arg120Gly)
|
rs201792575
|
0.00011
|
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly)
|
rs767561828
|
0.00011
|
NM_006005.3(WFS1):c.1752G>A (p.Gln584=)
|
rs76577786
|
0.00011
|
NM_006005.3(WFS1):c.1817T>G (p.Val606Gly)
|
rs756252214
|
0.00011
|
NM_006005.3(WFS1):c.437G>A (p.Arg146His)
|
rs34446752
|
0.00011
|
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile)
|
rs188848517
|
0.00011
|
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=)
|
rs199541853
|
0.00010
|
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)
|
rs367974472
|
0.00010
|
NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=)
|
rs778961697
|
0.00010
|
NM_000525.4(KCNJ11):c.-54C>T
|
rs1016780684
|
0.00010
|
NM_001042413.2(GLIS3):c.1326C>T (p.Asp442=)
|
rs758928731
|
0.00010
|
NM_001715.3(BLK):c.139C>G (p.Leu47Val)
|
rs202045056
|
0.00010
|
NM_001807.6(CEL):c.2092T>G (p.Ser698Ala)
|
rs587780310
|
0.00010
|
NM_006005.3(WFS1):c.1969A>G (p.Met657Val)
|
rs71532861
|
0.00010
|
NM_006005.3(WFS1):c.2603G>A (p.Arg868His)
|
rs56393026
|
0.00010
|
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr)
|
rs374270497
|
0.00010
|
NM_000162.5(GCK):c.9C>T (p.Asp3=)
|
rs142553382
|
0.00009
|
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile)
|
rs121909741
|
0.00009
|
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met)
|
rs751917665
|
0.00009
|
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)
|
rs199763382
|
0.00009
|
NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=)
|
rs368134766
|
0.00009
|
NM_000458.4(HNF1B):c.1534+11G>A
|
rs373875820
|
0.00009
|
NM_000458.4(HNF1B):c.1654-9T>A
|
rs200579660
|
0.00009
|
NM_000525.4(KCNJ11):c.*218G>T
|
rs886048039
|
0.00009
|
NM_001042413.2(GLIS3):c.24G>T (p.Met8Ile)
|
rs201804281
|
0.00009
|
NM_001042413.2(GLIS3):c.2531T>C (p.Ile844Thr)
|
rs193061752
|
0.00009
|
NM_001042413.2(GLIS3):c.2753G>A (p.Arg918His)
|
rs147357710
|
0.00009
|
NM_001366110.1(PAX4):c.488G>A (p.Arg163Gln)
|
rs375269956
|
0.00009
|
NM_001366110.1(PAX4):c.498C>T (p.His166=)
|
rs143156250
|
0.00009
|
NM_002500.5(NEUROD1):c.758T>C (p.Leu253Pro)
|
rs147634094
|
0.00009
|
NM_003597.5(KLF11):c.961G>C (p.Ala321Pro)
|
rs776725808
|
0.00009
|
NM_006005.3(WFS1):c.1478T>C (p.Val493Ala)
|
rs767366742
|
0.00009
|
NM_006005.3(WFS1):c.1494C>T (p.Val498=)
|
rs778206175
|
0.00009
|
NM_006005.3(WFS1):c.1770G>A (p.Thr590=)
|
rs71532858
|
0.00009
|
NM_006005.3(WFS1):c.1871T>C (p.Val624Ala)
|
rs747477628
|
0.00009
|
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr)
|
rs201335980
|
0.00009
|
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu)
|
rs71526461
|
0.00009
|
NM_006005.3(WFS1):c.747G>A (p.Glu249=)
|
rs752638064
|
0.00009
|
NM_006005.3(WFS1):c.862-19C>T
|
rs370767782
|
0.00009
|
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr)
|
rs200790641
|
0.00009
|
NM_006208.3(ENPP1):c.750G>A (p.Pro250=)
|
rs368742582
|
0.00009
|
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln)
|
rs142883089
|
0.00009
|
NM_000352.6(ABCC8):c.1662T>G (p.Ala554=)
|
rs368782953
|
0.00008
|
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met)
|
rs201351976
|
0.00008
|
NM_000352.6(ABCC8):c.375C>G (p.His125Gln)
|
rs60637558
|
0.00008
|
NM_000352.6(ABCC8):c.765C>T (p.Ile255=)
|
rs753335564
|
0.00008
|
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn)
|
rs781480098
|
0.00008
|
NM_000458.4(HNF1B):c.660T>C (p.Asp220=)
|
rs779375959
|
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_001042413.2(GLIS3):c.1984-16C>T
|
rs145670205
|
0.00008
|
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile)
|
rs755299574
|
0.00008
|
NM_003597.5(KLF11):c.608G>A (p.Gly203Glu)
|
rs145588324
|
0.00008
|
NM_006005.3(WFS1):c.1148G>A (p.Arg383His)
|
rs369450642
|
0.00008
|
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val)
|
rs574657627
|
0.00008
|
NM_006005.3(WFS1):c.2391C>T (p.Asp797=)
|
rs548415089
|
0.00008
|
NM_006005.3(WFS1):c.393C>T (p.Val131=)
|
rs758199900
|
0.00008
|
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val)
|
rs750660271
|
0.00008
|
NM_175914.5(HNF4A):c.427-20C>T
|
rs184217112
|
0.00008
|
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn)
|
rs369102740
|
0.00007
|
NM_000209.4(PDX1):c.498A>G (p.Leu166=)
|
rs780117858
|
0.00007
|
NM_000340.2(SLC2A2):c.372-16C>T
|
rs372176041
|
0.00007
|
NM_000340.2(SLC2A2):c.496+6_496+7dup
|
rs111737375
|
0.00007
|
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln)
|
rs376080397
|
0.00007
|
NM_000458.4(HNF1B):c.1534+10C>T
|
rs368168569
|
0.00007
|
NM_000545.8(HNF1A):c.341G>A (p.Arg114His)
|
rs139016696
|
0.00007
|
NM_000545.8(HNF1A):c.542G>C (p.Gly181Ala)
|
rs773315874
|
0.00007
|
NM_001042413.2(GLIS3):c.1686T>G (p.Ser562=)
|
rs745836279
|
0.00007
|
NM_001042413.2(GLIS3):c.1988G>A (p.Arg663Gln)
|
rs144720690
|
0.00007
|
NM_001042413.2(GLIS3):c.2027G>T (p.Cys676Phe)
|
rs149983395
|
0.00007
|
NM_001715.3(BLK):c.859G>A (p.Val287Met)
|
rs1042687
|
0.00007
|
NM_002500.5(NEUROD1):c.1013G>C (p.Ser338Thr)
|
rs767837260
|
0.00007
|
NM_006005.3(WFS1):c.1633G>A (p.Val545Met)
|
rs201993978
|
0.00007
|
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile)
|
rs71524377
|
0.00007
|
NM_006005.3(WFS1):c.342C>T (p.Ala114=)
|
rs201151892
|
0.00007
|
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser)
|
rs780727054
|
0.00007
|
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu)
|
rs373669861
|
0.00007
|
NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys)
|
rs201519006
|
0.00007
|
NM_178161.3(PTF1A):c.362G>A (p.Cys121Tyr)
|
rs1443229654
|
0.00007
|
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.4733G>A (p.Arg1578His)
|
rs143557848
|
0.00006
|
NM_000352.6(ABCC8):c.647G>A (p.Arg216His)
|
rs199702708
|
0.00006
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys)
|
rs758749160
|
0.00006
|
NM_000525.4(KCNJ11):c.86G>A (p.Arg29His)
|
rs988002138
|
0.00006
|
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=)
|
rs376279459
|
0.00006
|
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr)
|
rs201811844
|
0.00006
|
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile)
|
rs146855738
|
0.00006
|
NM_000545.8(HNF1A):c.245C>T (p.Thr82Met)
|
rs568123980
|
0.00006
|
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
NM_001042413.2(GLIS3):c.1395T>C (p.His465=)
|
rs752606768
|
0.00006
|
NM_001042413.2(GLIS3):c.2494A>G (p.Lys832Glu)
|
rs779354091
|
0.00006
|
NM_001366110.1(PAX4):c.572G>A (p.Arg191His)
|
rs145284016
|
0.00006
|
NM_001715.3(BLK):c.675G>A (p.Pro225=)
|
rs761122806
|
0.00006
|
NM_001807.6(CEL):c.670-4G>A
|
rs371303105
|
0.00006
|
NM_002500.5(NEUROD1):c.1050C>G (p.Leu350=)
|
rs778703927
|
0.00006
|
NM_003597.5(KLF11):c.673A>C (p.Ser225Arg)
|
rs200061013
|
0.00006
|
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys)
|
rs181988441
|
0.00006
|
NM_006005.3(WFS1):c.1181A>T (p.Glu394Val)
|
rs146563951
|
0.00006
|
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr)
|
rs138771366
|
0.00006
|
NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys)
|
rs141585847
|
0.00006
|
NM_006005.3(WFS1):c.1366C>T (p.Arg456Cys)
|
rs144452795
|
0.00006
|
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys)
|
rs371911218
|
0.00006
|
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile)
|
rs372663248
|
0.00006
|
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)
|
rs71524360
|
0.00006
|
NM_006005.3(WFS1):c.1791C>T (p.Ile597=)
|
rs141883293
|
0.00006
|
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln)
|
rs146670741
|
0.00006
|
NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys)
|
rs201623184
|
0.00006
|
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln)
|
rs140667597
|
0.00006
|
NM_006005.3(WFS1):c.2552T>G (p.Met851Arg)
|
rs758613421
|
0.00006
|
NM_006005.3(WFS1):c.2602C>T (p.Arg868Cys)
|
rs148611943
|
0.00006
|
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr)
|
rs200775335
|
0.00006
|
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)
|
rs760256649
|
0.00006
|
NM_006005.3(WFS1):c.315+17C>T
|
rs766977344
|
0.00006
|
NM_006005.3(WFS1):c.514C>T (p.Leu172=)
|
rs371632935
|
0.00006
|
NM_006005.3(WFS1):c.638G>A (p.Gly213Glu)
|
rs767957602
|
0.00006
|
NM_006005.3(WFS1):c.642G>A (p.Ala214=)
|
rs761245713
|
0.00006
|
NM_006005.3(WFS1):c.656T>C (p.Val219Ala)
|
rs373662682
|
0.00006
|
NM_006005.3(WFS1):c.824C>G (p.Ala275Gly)
|
rs769151204
|
0.00006
|
NM_006005.3(WFS1):c.862-3C>G
|
rs201889635
|
0.00006
|
NM_006005.3(WFS1):c.977C>T (p.Ala326Val)
|
rs369795224
|
0.00006
|
NM_006208.3(ENPP1):c.2445-5T>C
|
rs369942606
|
0.00006
|
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met)
|
rs187764662
|
0.00006
|
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser)
|
rs147798392
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln)
|
rs764196059
|
0.00006
|
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)
|
rs193922472
|
0.00006
|
NM_000162.5(GCK):c.270G>A (p.Lys90=)
|
rs571528578
|
0.00005
|
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.1537G>A (p.Ala513Thr)
|
rs761748692
|
0.00005
|
NM_000352.6(ABCC8):c.2870G>A (p.Arg957His)
|
rs775921458
|
0.00005
|
NM_000352.6(ABCC8):c.2883G>A (p.Ser961=)
|
rs556416269
|
0.00005
|
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile)
|
rs771882862
|
0.00005
|
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser)
|
rs1057517139
|
0.00005
|
NM_001042413.2(GLIS3):c.2159G>A (p.Arg720Gln)
|
rs200316055
|
0.00005
|
NM_001042413.2(GLIS3):c.2297+16T>C
|
rs377104078
|
0.00005
|
NM_003597.5(KLF11):c.1169G>A (p.Arg390Gln)
|
rs563767876
|
0.00005
|
NM_006005.3(WFS1):c.1026C>T (p.Ala342=)
|
rs777072078
|
0.00005
|
NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys)
|
rs759466443
|
0.00005
|
NM_006005.3(WFS1):c.1471G>A (p.Val491Met)
|
rs143597170
|
0.00005
|
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)
|
rs774265764
|
0.00005
|
NM_006005.3(WFS1):c.1684G>A (p.Gly562Ser)
|
rs753237278
|
0.00005
|
NM_006005.3(WFS1):c.1958G>A (p.Arg653His)
|
rs199697430
|
0.00005
|
NM_006005.3(WFS1):c.2392G>A (p.Val798Ile)
|
rs377712049
|
0.00005
|
NM_006005.3(WFS1):c.444C>T (p.Cys148=)
|
rs998539254
|
0.00005
|
NM_006005.3(WFS1):c.477C>T (p.Asn159=)
|
rs753964845
|
0.00005
|
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys)
|
rs148953711
|
0.00005
|
NM_006005.3(WFS1):c.56C>T (p.Pro19Leu)
|
rs376335216
|
0.00005
|
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile)
|
rs201757026
|
0.00005
|
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln)
|
rs202073574
|
0.00005
|
NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln)
|
rs371557531
|
0.00005
|
NM_175914.5(HNF4A):c.670+7C>T
|
rs376544046
|
0.00005
|
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val)
|
rs140143857
|
0.00005
|
NM_000162.5(GCK):c.646G>A (p.Glu216Lys)
|
rs778550411
|
0.00004
|
NM_000162.5(GCK):c.834C>T (p.Asp278=)
|
rs200071687
|
0.00004
|
NM_000162.5(GCK):c.836A>G (p.Glu279Gly)
|
rs143484733
|
0.00004
|
NM_000340.2(SLC2A2):c.1039G>A (p.Ala347Thr)
|
rs776435170
|
0.00004
|
NM_000340.2(SLC2A2):c.852G>A (p.Ser284=)
|
rs371899639
|
0.00004
|
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter)
|
rs121909743
|
0.00004
|
NM_000352.6(ABCC8):c.1281G>A (p.Gln427=)
|
rs112488640
|
0.00004
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
NM_000352.6(ABCC8):c.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.403C>G (p.Leu135Val)
|
rs368450282
|
0.00004
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=)
|
rs771106160
|
0.00004
|
NM_000352.6(ABCC8):c.480C>T (p.His160=)
|
rs769858502
|
0.00004
|
NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr)
|
rs756552692
|
0.00004
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
NM_000458.4(HNF1B):c.723G>A (p.Ala241=)
|
rs768490293
|
0.00004
|
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser)
|
rs766790596
|
0.00004
|
NM_000545.8(HNF1A):c.150C>T (p.Cys50=)
|
rs193922583
|
0.00004
|
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val)
|
rs143753579
|
0.00004
|
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr)
|
rs201095611
|
0.00004
|
NM_000545.8(HNF1A):c.713+13G>A
|
rs755961371
|
0.00004
|
NM_000545.8(HNF1A):c.962G>A (p.Arg321His)
|
rs751761766
|
0.00004
|
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser)
|
rs200676705
|
0.00004
|
NM_001040716.2(PC):c.561C>T (p.Tyr187=)
|
rs145333590
|
0.00004
|
NM_001042413.2(GLIS3):c.1310C>T (p.Pro437Leu)
|
rs745511715
|
0.00004
|
NM_001042413.2(GLIS3):c.1779C>T (p.Gly593=)
|
rs370278575
|
0.00004
|
NM_001042413.2(GLIS3):c.2107C>T (p.Pro703Ser)
|
rs200705602
|
0.00004
|
NM_001042413.2(GLIS3):c.2258A>G (p.Gln753Arg)
|
rs750346762
|
0.00004
|
NM_001042413.2(GLIS3):c.31C>T (p.His11Tyr)
|
rs773069755
|
0.00004
|
NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys)
|
rs369459316
|
0.00004
|
NM_001715.3(BLK):c.465C>G (p.Thr155=)
|
rs375035401
|
0.00004
|
NM_001715.3(BLK):c.672C>T (p.Ala224=)
|
rs201252364
|
0.00004
|
NM_002500.5(NEUROD1):c.741C>A (p.His247Gln)
|
rs201542440
|
0.00004
|
NM_002500.5(NEUROD1):c.746A>G (p.Tyr249Cys)
|
rs780520468
|
0.00004
|
NM_002500.5(NEUROD1):c.86C>G (p.Ser29Cys)
|
rs138850469
|
0.00004
|
NM_002500.5(NEUROD1):c.973C>A (p.Arg325Ser)
|
rs368727469
|
0.00004
|
NM_004563.4(PCK2):c.424C>T (p.Arg142Ter)
|
rs746104381
|
0.00004
|
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)
|
rs201772964
|
0.00004
|
NM_006005.3(WFS1):c.1072G>C (p.Val358Leu)
|
rs969150051
|
0.00004
|
NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys)
|
rs373146435
|
0.00004
|
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr)
|
rs151244358
|
0.00004
|
NM_006005.3(WFS1):c.1220A>G (p.His407Arg)
|
rs140407862
|
0.00004
|
NM_006005.3(WFS1):c.1264G>A (p.Ala422Thr)
|
rs773280611
|
0.00004
|
NM_006005.3(WFS1):c.1320C>T (p.Thr440=)
|
rs762339922
|
0.00004
|
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr)
|
rs71524357
|
0.00004
|
NM_006005.3(WFS1):c.1442T>C (p.Leu481Pro)
|
rs756067305
|
0.00004
|
NM_006005.3(WFS1):c.1480G>A (p.Gly494Ser)
|
rs760692398
|
0.00004
|
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile)
|
rs573775230
|
0.00004
|
NM_006005.3(WFS1):c.1784C>T (p.Thr595Ile)
|
rs148544389
|
0.00004
|
NM_006005.3(WFS1):c.1929C>T (p.Ile643=)
|
rs544473222
|
0.00004
|
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys)
|
rs765322804
|
0.00004
|
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro)
|
rs369656458
|
0.00004
|
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr)
|
rs757027394
|
0.00004
|
NM_006005.3(WFS1):c.20C>T (p.Pro7Leu)
|
rs138165486
|
0.00004
|
NM_006005.3(WFS1):c.2107C>T (p.Arg703Cys)
|
rs201888856
|
0.00004
|
NM_006005.3(WFS1):c.2118C>T (p.Tyr706=)
|
rs375408391
|
0.00004
|
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys)
|
rs71532863
|
0.00004
|
NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn)
|
rs575778537
|
0.00004
|
NM_006005.3(WFS1):c.2213C>A (p.Ala738Asp)
|
rs756962408
|
0.00004
|
NM_006005.3(WFS1):c.2293del (p.Cys765fs)
|
rs1381011685
|
0.00004
|
NM_006005.3(WFS1):c.2299A>C (p.Ile767Leu)
|
rs779199009
|
0.00004
|
NM_006005.3(WFS1):c.2349C>T (p.Phe783=)
|
rs759746525
|
0.00004
|
NM_006005.3(WFS1):c.2520C>T (p.Phe840=)
|
rs777254962
|
0.00004
|
NM_006005.3(WFS1):c.2607C>T (p.Ser869=)
|
rs1410561677
|
0.00004
|
NM_006005.3(WFS1):c.2619C>T (p.Gly873=)
|
rs370977482
|
0.00004
|
NM_006005.3(WFS1):c.2663C>T (p.Ser888Leu)
|
rs547089139
|
0.00004
|
NM_006005.3(WFS1):c.2664G>A (p.Ser888=)
|
rs756116434
|
0.00004
|
NM_006005.3(WFS1):c.613G>A (p.Gly205Ser)
|
rs770713329
|
0.00004
|
NM_006005.3(WFS1):c.631G>A (p.Asp211Asn)
|
rs138682654
|
0.00004
|
NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys)
|
rs137853273
|
0.00004
|
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala)
|
rs754251347
|
0.00004
|
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=)
|
rs751892618
|
0.00004
|
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)
|
rs780342162
|
0.00004
|
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg)
|
rs747928745
|
0.00004
|
NM_175914.5(HNF4A):c.468G>A (p.Ala156=)
|
rs758124162
|
0.00004
|
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)
|
rs371124358
|
0.00004
|
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_000209.4(PDX1):c.719C>G (p.Pro240Arg)
|
rs753881947
|
0.00003
|
NM_000209.4(PDX1):c.820G>T (p.Val274Phe)
|
rs930365498
|
0.00003
|
NM_000340.2(SLC2A2):c.109-19A>G
|
rs182772346
|
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.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
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.4178G>A (p.Arg1393His)
|
rs769279368
|
0.00003
|
NM_000352.6(ABCC8):c.603G>A (p.Pro201=)
|
rs765113879
|
0.00003
|
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp)
|
rs778892038
|
0.00003
|
NM_000352.6(ABCC8):c.822+3C>T
|
rs370697909
|
0.00003
|
NM_000352.6(ABCC8):c.822+7G>A
|
rs765890511
|
0.00003
|
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)
|
rs747110790
|
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.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile)
|
rs149667199
|
0.00003
|
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)
|
rs371544082
|
0.00003
|
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)
|
rs373180062
|
0.00003
|
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met)
|
rs150513055
|
0.00003
|
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)
|
rs371759652
|
0.00003
|
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)
|
rs137853245
|
0.00003
|
NM_001042413.2(GLIS3):c.1214C>T (p.Pro405Leu)
|
rs764072714
|
0.00003
|
NM_001042413.2(GLIS3):c.1263C>T (p.Asp421=)
|
rs755713904
|
0.00003
|
NM_001042413.2(GLIS3):c.638G>A (p.Ser213Asn)
|
rs748030278
|
0.00003
|
NM_001715.3(BLK):c.1089G>A (p.Ala363=)
|
rs55836779
|
0.00003
|
NM_001715.3(BLK):c.67T>C (p.Trp23Arg)
|
rs574731221
|
0.00003
|
NM_003597.5(KLF11):c.1396A>T (p.Ser466Cys)
|
rs757875185
|
0.00003
|
NM_003597.5(KLF11):c.431T>C (p.Val144Ala)
|
rs753049849
|
0.00003
|
NM_006005.3(WFS1):c.1008C>G (p.Leu336=)
|
rs755063164
|
0.00003
|
NM_006005.3(WFS1):c.1216G>A (p.Ala406Thr)
|
rs942866942
|
0.00003
|
NM_006005.3(WFS1):c.1467C>G (p.Ile489Met)
|
rs768029820
|
0.00003
|
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser)
|
rs544933961
|
0.00003
|
NM_006005.3(WFS1):c.1680C>T (p.Ser560=)
|
rs760906868
|
0.00003
|
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val)
|
rs749172015
|
0.00003
|
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)
|
rs143064649
|
0.00003
|
NM_006005.3(WFS1):c.1883C>T (p.Thr628Met)
|
rs368236000
|
0.00003
|
NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly)
|
rs143280847
|
0.00003
|
NM_006005.3(WFS1):c.226G>A (p.Gly76Ser)
|
rs566587586
|
0.00003
|
NM_006005.3(WFS1):c.2290C>G (p.Pro764Ala)
|
rs377102310
|
0.00003
|
NM_006005.3(WFS1):c.2377C>T (p.Arg793Cys)
|
rs71526462
|
0.00003
|
NM_006005.3(WFS1):c.2406C>T (p.Ile802=)
|
rs201102144
|
0.00003
|
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe)
|
rs771391168
|
0.00003
|
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)
|
rs142428158
|
0.00003
|
NM_006005.3(WFS1):c.882C>T (p.His294=)
|
rs571928866
|
0.00003
|
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu)
|
rs727504730
|
0.00003
|
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile)
|
rs144888979
|
0.00003
|
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met)
|
rs762065573
|
0.00003
|
NM_138711.6(PPARG):c.248C>A (p.Pro83Gln)
|
rs1800571
|
0.00003
|
NM_175914.5(HNF4A):c.1064-18G>A
|
rs773235761
|
0.00003
|
NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile)
|
rs377151067
|
0.00003
|
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val)
|
rs774111430
|
0.00003
|
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met)
|
rs199796094
|
0.00003
|
NM_175914.5(HNF4A):c.657C>T (p.Asp219=)
|
rs376586083
|
0.00003
|
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)
|
rs748714111
|
0.00003
|
NM_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.483+3G>A
|
rs1311596702
|
0.00002
|
NM_000162.5(GCK):c.784G>A (p.Asp262Asn)
|
rs779460424
|
0.00002
|
NM_000207.3(INS):c.266G>A (p.Arg89His)
|
rs28933985
|
0.00002
|
NM_000208.4(INSR):c.2121C>T (p.Gly707=)
|
rs753257847
|
0.00002
|
NM_000208.4(INSR):c.3158G>A (p.Arg1053His)
|
rs748109926
|
0.00002
|
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala)
|
rs1380564366
|
0.00002
|
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)
|
rs121909742
|
0.00002
|
NM_000340.2(SLC2A2):c.371+19T>C
|
rs752870085
|
0.00002
|
NM_000340.2(SLC2A2):c.866T>G (p.Val289Gly)
|
rs780873643
|
0.00002
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
0.00002
|
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)
|
rs139328569
|
0.00002
|
NM_000352.6(ABCC8):c.1800C>T (p.Thr600=)
|
rs371181016
|
0.00002
|
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln)
|
rs755707550
|
0.00002
|
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)
|
rs764349043
|
0.00002
|
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)
|
rs1331539684
|
0.00002
|
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=)
|
rs779736828
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000352.6(ABCC8):c.2634C>T (p.Asp878=)
|
rs754554936
|
0.00002
|
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)
|
rs761862121
|
0.00002
|
NM_000352.6(ABCC8):c.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.4104C>T (p.Ile1368=)
|
rs1345535328
|
0.00002
|
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu)
|
rs750165947
|
0.00002
|
NM_000352.6(ABCC8):c.702C>T (p.Asn234=)
|
rs758289249
|
0.00002
|
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)
|
rs982085453
|
0.00002
|
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly)
|
rs375625110
|
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_000545.8(HNF1A):c.125G>A (p.Gly42Asp)
|
rs1261968643
|
0.00002
|
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)
|
rs764483607
|
0.00002
|
NM_000545.8(HNF1A):c.1504C>G (p.Leu502Val)
|
rs924150546
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg)
|
rs193922589
|
0.00002
|
NM_000545.8(HNF1A):c.1774T>C (p.Ser592Pro)
|
rs1352126690
|
0.00002
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu)
|
rs754306821
|
0.00002
|
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr)
|
rs1464614105
|
0.00002
|
NM_001040716.2(PC):c.3034A>G (p.Met1012Val)
|
rs1030212351
|
0.00002
|
NM_001042413.2(GLIS3):c.2681C>T (p.Ser894Leu)
|
rs202168959
|
0.00002
|
NM_001042413.2(GLIS3):c.2705G>A (p.Arg902His)
|
rs772126214
|
0.00002
|
NM_001042413.2(GLIS3):c.94C>T (p.Arg32Ter)
|
rs753993867
|
0.00002
|
NM_001042413.2(GLIS3):c.950A>G (p.Asn317Ser)
|
rs201716083
|
0.00002
|
NM_001366110.1(PAX4):c.134G>A (p.Arg45Gln)
|
rs147279315
|
0.00002
|
NM_001715.3(BLK):c.27G>A (p.Pro9=)
|
rs536630306
|
0.00002
|
NM_001807.6(CEL):c.400G>A (p.Gly134Ser)
|
rs377284693
|
0.00002
|
NM_001807.6(CEL):c.895+2dup
|
rs1027973097
|
0.00002
|
NM_002500.5(NEUROD1):c.34G>C (p.Gly12Arg)
|
rs556400603
|
0.00002
|
NM_002500.5(NEUROD1):c.357G>A (p.Ala119=)
|
rs375774931
|
0.00002
|
NM_003597.5(KLF11):c.811A>C (p.Lys271Gln)
|
rs368207952
|
0.00002
|
NM_006005.3(WFS1):c.1378G>A (p.Ala460Thr)
|
rs767998582
|
0.00002
|
NM_006005.3(WFS1):c.1550G>A (p.Arg517His)
|
rs150394063
|
0.00002
|
NM_006005.3(WFS1):c.1900A>C (p.Lys634Gln)
|
rs140213376
|
0.00002
|
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter)
|
rs772357412
|
0.00002
|
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)
|
rs1443751733
|
0.00002
|
NM_006005.3(WFS1):c.2125G>A (p.Val709Met)
|
rs761216725
|
0.00002
|
NM_006005.3(WFS1):c.2212G>A (p.Ala738Thr)
|
rs563972671
|
0.00002
|
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met)
|
rs199769524
|
0.00002
|
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter)
|
rs201239579
|
0.00002
|
NM_006005.3(WFS1):c.2267G>A (p.Arg756His)
|
rs982418213
|
0.00002
|
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys)
|
rs200528166
|
0.00002
|
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys)
|
rs367547063
|
0.00002
|
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln)
|
rs121912618
|
0.00002
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
NM_006005.3(WFS1):c.304G>A (p.Ala102Thr)
|
rs1252423572
|
0.00002
|
NM_006005.3(WFS1):c.401C>T (p.Ala134Val)
|
rs746010848
|
0.00002
|
NM_006005.3(WFS1):c.727G>A (p.Ala243Thr)
|
rs760226129
|
0.00002
|
NM_006005.3(WFS1):c.807A>T (p.Glu269Asp)
|
rs773140080
|
0.00002
|
NM_006005.3(WFS1):c.979C>T (p.Leu327Phe)
|
rs71537678
|
0.00002
|
NM_006208.3(ENPP1):c.1274-5C>T
|
rs751500820
|
0.00002
|
NM_006208.3(ENPP1):c.370G>A (p.Ala124Thr)
|
rs771405037
|
0.00002
|
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)
|
rs1063239
|
0.00002
|
NM_175914.5(HNF4A):c.841A>G (p.Ser281Gly)
|
rs201777208
|
0.00002
|
NM_178161.3(PTF1A):c.617G>T (p.Arg206Leu)
|
rs886046909
|
0.00002
|
NC_000011.10:g.17476966G>C
|
rs1395224084
|
0.00001
|
NM_000162.5(GCK):c.107G>A (p.Arg36Gln)
|
rs193922261
|
0.00001
|
NM_000162.5(GCK):c.1386G>T (p.Met462Ile)
|
rs193922285
|
0.00001
|
NM_000162.5(GCK):c.415A>T (p.Met139Leu)
|
rs368137186
|
0.00001
|
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
|
rs1085307455
|
0.00001
|
NM_000162.5(GCK):c.609G>A (p.Val203=)
|
rs776703291
|
0.00001
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
NM_000162.5(GCK):c.716A>G (p.Gln239Arg)
|
rs764146649
|
0.00001
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
NM_000207.3(INS):c.1A>G (p.Met1Val)
|
rs757124361
|
0.00001
|
NM_000207.3(INS):c.25C>T (p.Pro9Ser)
|
rs372122432
|
0.00001
|
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln)
|
rs777565396
|
0.00001
|
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln)
|
rs121913148
|
0.00001
|
NM_000209.4(PDX1):c.216C>T (p.Pro72=)
|
rs193922353
|
0.00001
|
NM_000209.4(PDX1):c.463C>A (p.Arg155Ser)
|
rs773643850
|
0.00001
|
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly)
|
rs193922360
|
0.00001
|
NM_000209.4(PDX1):c.98C>A (p.Pro33His)
|
rs767363575
|
0.00001
|
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg)
|
rs760200790
|
0.00001
|
NM_000340.2(SLC2A2):c.188G>C (p.Ser63Thr)
|
rs1373290524
|
0.00001
|
NM_000340.2(SLC2A2):c.683G>A (p.Arg228Gln)
|
rs1560035364
|
0.00001
|
NM_000340.2(SLC2A2):c.775+1G>A
|
rs756874949
|
0.00001
|
NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=)
|
rs776713811
|
0.00001
|
NM_000352.6(ABCC8):c.1176+2T>C
|
rs750586210
|
0.00001
|
NM_000352.6(ABCC8):c.1177-1G>A
|
rs1167993548
|
0.00001
|
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)
|
rs542947894
|
0.00001
|
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)
|
rs768951263
|
0.00001
|
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)
|
rs760062120
|
0.00001
|
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val)
|
rs780283224
|
0.00001
|
NM_000352.6(ABCC8):c.148+13A>C
|
rs773823246
|
0.00001
|
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro)
|
rs1554933168
|
0.00001
|
NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val)
|
rs773345085
|
0.00001
|
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)
|
rs751279984
|
0.00001
|
NM_000352.6(ABCC8):c.1581G>A (p.Arg527=)
|
rs750360514
|
0.00001
|
NM_000352.6(ABCC8):c.1630+1G>T
|
rs773306994
|
0.00001
|
NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe)
|
rs1362268812
|
0.00001
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
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.220C>T (p.Arg74Trp)
|
rs201682634
|
0.00001
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
NM_000352.6(ABCC8):c.2226T>C (p.Leu742=)
|
rs757507467
|
0.00001
|
NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg)
|
rs757961130
|
0.00001
|
NM_000352.6(ABCC8):c.2403C>A (p.Val801=)
|
rs148863748
|
0.00001
|
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)
|
rs1323334420
|
0.00001
|
NM_000352.6(ABCC8):c.2751G>A (p.Gln917=)
|
rs769982482
|
0.00001
|
NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys)
|
rs748585974
|
0.00001
|
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln)
|
rs745591375
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000352.6(ABCC8):c.2916G>A (p.Glu972=)
|
rs1954592292
|
0.00001
|
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=)
|
rs1387302006
|
0.00001
|
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn)
|
rs767123465
|
0.00001
|
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)
|
rs761749884
|
0.00001
|
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met)
|
rs769818698
|
0.00001
|
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
|
rs797045209
|
0.00001
|
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)
|
rs367850779
|
0.00001
|
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr)
|
rs1320499455
|
0.00001
|
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe)
|
rs1278920115
|
0.00001
|
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)
|
rs1057516281
|
0.00001
|
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)
|
rs781617345
|
0.00001
|
NM_000352.6(ABCC8):c.3868-1G>A
|
rs766431403
|
0.00001
|
NM_000352.6(ABCC8):c.3988+2T>C
|
rs745349258
|
0.00001
|
NM_000352.6(ABCC8):c.4060G>A (p.Asp1354Asn)
|
rs1199684247
|
0.00001
|
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser)
|
rs137852673
|
0.00001
|
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser)
|
rs773448052
|
0.00001
|
NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=)
|
rs965734923
|
0.00001
|
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val)
|
rs748831440
|
0.00001
|
NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile)
|
rs755577144
|
0.00001
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly)
|
rs374703754
|
0.00001
|
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)
|
rs72559716
|
0.00001
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)
|
rs28936371
|
0.00001
|
NM_000352.6(ABCC8):c.4569G>A (p.Val1523=)
|
rs1953753838
|
0.00001
|
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)
|
rs72559713
|
0.00001
|
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)
|
rs756823374
|
0.00001
|
NM_000352.6(ABCC8):c.660C>T (p.Pro220=)
|
rs773643362
|
0.00001
|
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)
|
rs768017509
|
0.00001
|
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)
|
rs72559730
|
0.00001
|
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)
|
rs1462559571
|
0.00001
|
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg)
|
rs148529020
|
0.00001
|
NM_000352.6(ABCC8):c.894C>A (p.Arg298=)
|
rs375094504
|
0.00001
|
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)
|
rs769569410
|
0.00001
|
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)
|
rs1201126343
|
0.00001
|
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr)
|
rs759270956
|
0.00001
|
NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile)
|
rs1199229728
|
0.00001
|
NM_000458.4(HNF1B):c.231C>G (p.Asp77Glu)
|
rs760448993
|
0.00001
|
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg)
|
rs1321074352
|
0.00001
|
NM_000458.4(HNF1B):c.66C>A (p.Thr22=)
|
rs906719754
|
0.00001
|
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly)
|
rs138125678
|
0.00001
|
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)
|
rs141145502
|
0.00001
|
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His)
|
rs745379486
|
0.00001
|
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu)
|
rs114613745
|
0.00001
|
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys)
|
rs766891274
|
0.00001
|
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His)
|
rs1479483693
|
0.00001
|
NM_000525.4(KCNJ11):c.411G>A (p.Met137Ile)
|
rs371977895
|
0.00001
|
NM_000525.4(KCNJ11):c.450C>T (p.Ile150=)
|
rs761588360
|
0.00001
|
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met)
|
rs587783668
|
0.00001
|
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His)
|
rs1266231295
|
0.00001
|
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)
|
rs104894248
|
0.00001
|
NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val)
|
rs754683593
|
0.00001
|
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)
|
rs780957825
|
0.00001
|
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)
|
rs74339576
|
0.00001
|
NM_000545.8(HNF1A):c.1030G>A (p.Val344Met)
|
rs767616383
|
0.00001
|
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)
|
rs1403526456
|
0.00001
|
NM_000545.8(HNF1A):c.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.1537A>T (p.Thr513Ser)
|
rs753702603
|
0.00001
|
NM_000545.8(HNF1A):c.153C>T (p.Gly51=)
|
rs761779651
|
0.00001
|
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)
|
rs200639058
|
0.00001
|
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)
|
rs749673816
|
0.00001
|
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)
|
rs759717253
|
0.00001
|
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)
|
rs984428675
|
0.00001
|
NM_000545.8(HNF1A):c.1769T>C (p.Val590Ala)
|
rs928744634
|
0.00001
|
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)
|
rs200120574
|
0.00001
|
NM_000545.8(HNF1A):c.1824C>G (p.Ser608Arg)
|
rs1877445147
|
0.00001
|
NM_000545.8(HNF1A):c.257T>A (p.Leu86His)
|
rs200442958
|
0.00001
|
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)
|
rs774996577
|
0.00001
|
NM_000545.8(HNF1A):c.685C>A (p.Arg229=)
|
rs769086289
|
0.00001
|
NM_000545.8(HNF1A):c.713+14C>T
|
rs193922601
|
0.00001
|
NM_000545.8(HNF1A):c.780G>A (p.Thr260=)
|
rs749633685
|
0.00001
|
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr)
|
rs765829022
|
0.00001
|
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)
|
rs747958319
|
0.00001
|
NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr)
|
rs555681479
|
0.00001
|
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp)
|
rs757574765
|
0.00001
|
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn)
|
rs371922891
|
0.00001
|
NM_001040716.2(PC):c.2024G>A (p.Arg675His)
|
rs375528540
|
0.00001
|
NM_001040716.2(PC):c.633+2T>C
|
rs763433647
|
0.00001
|
NM_001042413.2(GLIS3):c.1071C>T (p.Ser357=)
|
rs752385722
|
0.00001
|
NM_001042413.2(GLIS3):c.1210C>A (p.Gln404Lys)
|
rs751660790
|
0.00001
|
NM_001042413.2(GLIS3):c.1272G>A (p.Ser424=)
|
rs764287243
|
0.00001
|
NM_001042413.2(GLIS3):c.1416G>T (p.Glu472Asp)
|
rs772552747
|
0.00001
|
NM_001042413.2(GLIS3):c.1973C>G (p.Ala658Gly)
|
rs977500969
|
0.00001
|
NM_001042413.2(GLIS3):c.220G>A (p.Val74Met)
|
rs768657630
|
0.00001
|
NM_001042413.2(GLIS3):c.2350G>C (p.Ala784Pro)
|
rs754312328
|
0.00001
|
NM_001042413.2(GLIS3):c.2503C>G (p.Pro835Ala)
|
rs753899353
|
0.00001
|
NM_001042413.2(GLIS3):c.555A>C (p.Ala185=)
|
rs752433935
|
0.00001
|
NM_001042413.2(GLIS3):c.596+6A>C
|
rs772180668
|
0.00001
|
NM_001366110.1(PAX4):c.179G>A (p.Arg60His)
|
rs370095957
|
0.00001
|
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln)
|
rs587780414
|
0.00001
|
NM_001366110.1(PAX4):c.771+6C>T
|
rs377152445
|
0.00001
|
NM_001715.3(BLK):c.1142T>C (p.Leu381Ser)
|
rs142803179
|
0.00001
|
NM_001715.3(BLK):c.1252G>A (p.Val418Met)
|
rs373565757
|
0.00001
|
NM_001715.3(BLK):c.1371C>T (p.Pro457=)
|
rs1356289485
|
0.00001
|
NM_001715.3(BLK):c.164A>G (p.His55Arg)
|
rs202053568
|
0.00001
|
NM_002500.5(NEUROD1):c.1043C>T (p.Ala348Val)
|
rs771797718
|
0.00001
|
NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp)
|
rs774325551
|
0.00001
|
NM_002500.5(NEUROD1):c.37G>A (p.Glu13Lys)
|
rs763871039
|
0.00001
|
NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val)
|
rs369575066
|
0.00001
|
NM_002500.5(NEUROD1):c.761A>C (p.Glu254Ala)
|
rs767219230
|
0.00001
|
NM_002500.5(NEUROD1):c.766T>C (p.Phe256Leu)
|
rs556602572
|
0.00001
|
NM_002500.5(NEUROD1):c.79C>T (p.Leu27Phe)
|
rs766645933
|
0.00001
|
NM_002500.5(NEUROD1):c.814C>A (p.Pro272Thr)
|
rs1365446719
|
0.00001
|
NM_002500.5(NEUROD1):c.931G>A (p.Ala311Thr)
|
rs1475260624
|
0.00001
|
NM_003597.5(KLF11):c.-31G>A
|
rs886054721
|
0.00001
|
NM_003597.5(KLF11):c.1049C>T (p.Pro350Leu)
|
rs775364750
|
0.00001
|
NM_003597.5(KLF11):c.1486G>A (p.Ala496Thr)
|
rs868399686
|
0.00001
|
NM_003597.5(KLF11):c.259A>G (p.Met87Val)
|
rs757905542
|
0.00001
|
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)
|
rs773900146
|
0.00001
|
NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile)
|
rs781575919
|
0.00001
|
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter)
|
rs761320763
|
0.00001
|
NM_006005.3(WFS1):c.1100A>G (p.Asp367Gly)
|
rs771498413
|
0.00001
|
NM_006005.3(WFS1):c.1179C>T (p.Ala393=)
|
rs746433560
|
0.00001
|
NM_006005.3(WFS1):c.1211C>T (p.Pro404Leu)
|
rs935411471
|
0.00001
|
NM_006005.3(WFS1):c.1319C>T (p.Thr440Ile)
|
rs775039116
|
0.00001
|
NM_006005.3(WFS1):c.1365G>A (p.Thr455=)
|
rs769749907
|
0.00001
|
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser)
|
rs727503750
|
0.00001
|
NM_006005.3(WFS1):c.1501G>A (p.Val501Ile)
|
rs1343901456
|
0.00001
|
NM_006005.3(WFS1):c.1506C>T (p.Ser502=)
|
rs773684789
|
0.00001
|
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)
|
rs28937892
|
0.00001
|
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val)
|
rs201557396
|
0.00001
|
NM_006005.3(WFS1):c.1560G>A (p.Gln520=)
|
rs776513501
|
0.00001
|
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter)
|
rs1335076773
|
0.00001
|
NM_006005.3(WFS1):c.1649A>C (p.Glu550Ala)
|
rs760990181
|
0.00001
|
NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr)
|
rs876658118
|
0.00001
|
NM_006005.3(WFS1):c.19C>T (p.Pro7Ser)
|
rs1432704019
|
0.00001
|
NM_006005.3(WFS1):c.2108G>A (p.Arg703His)
|
rs1323852277
|
0.00001
|
NM_006005.3(WFS1):c.2191A>G (p.Met731Val)
|
rs144010362
|
0.00001
|
NM_006005.3(WFS1):c.2192T>C (p.Met731Thr)
|
rs146418094
|
0.00001
|
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys)
|
rs71526458
|
0.00001
|
NM_006005.3(WFS1):c.2286G>A (p.Lys762=)
|
rs200663929
|
0.00001
|
NM_006005.3(WFS1):c.2381A>G (p.Glu794Gly)
|
rs752023481
|
0.00001
|
NM_006005.3(WFS1):c.2388C>T (p.Asp796=)
|
rs71532868
|
0.00001
|
NM_006005.3(WFS1):c.2407G>A (p.Val803Met)
|
rs745988826
|
0.00001
|
NM_006005.3(WFS1):c.2437G>A (p.Val813Met)
|
rs756972444
|
0.00001
|
NM_006005.3(WFS1):c.2495G>A (p.Arg832His)
|
rs141816346
|
0.00001
|
NM_006005.3(WFS1):c.2513C>T (p.Pro838Leu)
|
rs374704428
|
0.00001
|
NM_006005.3(WFS1):c.33C>A (p.Ser11=)
|
rs1185590827
|
0.00001
|
NM_006005.3(WFS1):c.395T>G (p.Leu132Arg)
|
rs763992743
|
0.00001
|
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr)
|
rs372249044
|
0.00001
|
NM_006005.3(WFS1):c.440G>A (p.Arg147Gln)
|
rs887901169
|
0.00001
|
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys)
|
rs567563179
|
0.00001
|
NM_006005.3(WFS1):c.527T>C (p.Val176Ala)
|
rs772915458
|
0.00001
|
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr)
|
rs776685250
|
0.00001
|
NM_006005.3(WFS1):c.593C>T (p.Ala198Val)
|
rs142687752
|
0.00001
|
NM_006005.3(WFS1):c.631+5G>A
|
rs863224261
|
0.00001
|
NM_006005.3(WFS1):c.641C>T (p.Ala214Val)
|
rs750861249
|
0.00001
|
NM_006005.3(WFS1):c.686T>C (p.Met229Thr)
|
rs774525063
|
0.00001
|
NM_006005.3(WFS1):c.709G>A (p.Glu237Lys)
|
rs763480468
|
0.00001
|
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg)
|
rs727503747
|
0.00001
|
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter)
|
rs747658523
|
0.00001
|
NM_006005.3(WFS1):c.77G>A (p.Arg26Gln)
|
rs551867477
|
0.00001
|
NM_006005.3(WFS1):c.816C>T (p.Asp272=)
|
rs762774307
|
0.00001
|
NM_006005.3(WFS1):c.830A>G (p.Lys277Arg)
|
rs753193877
|
0.00001
|
NM_006005.3(WFS1):c.862G>A (p.Val288Met)
|
rs71537685
|
0.00001
|
NM_006005.3(WFS1):c.920C>T (p.Ala307Val)
|
rs371645500
|
0.00001
|
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe)
|
rs564413149
|
0.00001
|
NM_006208.3(ENPP1):c.1164+9A>G
|
rs571952564
|
0.00001
|
NM_006208.3(ENPP1):c.1376C>T (p.Pro459Leu)
|
rs1340431392
|
0.00001
|
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)
|
rs373044722
|
0.00001
|
NM_006208.3(ENPP1):c.1735T>G (p.Leu579Val)
|
rs144209970
|
0.00001
|
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg)
|
rs777367269
|
0.00001
|
NM_006208.3(ENPP1):c.2311+8A>G
|
rs760047831
|
0.00001
|
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter)
|
rs1782357136
|
0.00001
|
NM_006208.3(ENPP1):c.236C>T (p.Ser79Leu)
|
rs1320639230
|
0.00001
|
NM_006208.3(ENPP1):c.2608-1G>A
|
rs149828062
|
0.00001
|
NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser)
|
rs1481378734
|
0.00001
|
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp)
|
rs766617922
|
0.00001
|
NM_006208.3(ENPP1):c.795+12A>G
|
rs1781980876
|
0.00001
|
NM_175914.5(HNF4A):c.-79C>T
|
rs373143621
|
0.00001
|
NM_175914.5(HNF4A):c.106G>A (p.Ala36Thr)
|
rs376906221
|
0.00001
|
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile)
|
rs137853337
|
0.00001
|
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg)
|
rs757897768
|
0.00001
|
NM_175914.5(HNF4A):c.1198C>T (p.Arg400Ter)
|
rs1413742263
|
0.00001
|
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp)
|
rs780813696
|
0.00001
|
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile)
|
rs377476335
|
0.00001
|
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)
|
rs149611886
|
0.00001
|
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys)
|
rs771156648
|
0.00001
|
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp)
|
rs1032164393
|
0.00001
|
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp)
|
rs1259110384
|
0.00001
|
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile)
|
rs753285226
|
0.00001
|
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn)
|
rs145902391
|
0.00001
|
NM_175914.5(HNF4A):c.862C>T (p.Arg288Trp)
|
rs768263630
|
0.00001
|
NM_000162.5(GCK):c.*12G>A
|
|
|
NM_000162.5(GCK):c.1006T>A (p.Ser336Thr)
|
|
|
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)
|
rs1000236360
|
|
NM_000162.5(GCK):c.1024A>T (p.Thr342Ser)
|
|
|
NM_000162.5(GCK):c.1045T>A (p.Tyr349Asn)
|
|
|
NM_000162.5(GCK):c.1058G>A (p.Ser353Asn)
|
|
|
NM_000162.5(GCK):c.1102C>T (p.Arg368Cys)
|
|
|
NM_000162.5(GCK):c.1142T>A (p.Met381Lys)
|
rs193922266
|
|
NM_000162.5(GCK):c.1230C>T (p.Gly410=)
|
|
|
NM_000162.5(GCK):c.1234G>A (p.Val412Met)
|
|
|
NM_000162.5(GCK):c.1241A>T (p.Lys414Met)
|
|
|
NM_000162.5(GCK):c.1253+3G>T
|
rs911506580
|
|
NM_000162.5(GCK):c.1253+5G>T
|
|
|
NM_000162.5(GCK):c.1253+6C>T
|
|
|
NM_000162.5(GCK):c.1274C>A (p.Ala425Asp)
|
|
|
NM_000162.5(GCK):c.127C>T (p.Arg43Cys)
|
rs1486280029
|
|
NM_000162.5(GCK):c.12_13del (p.Asp4fs)
|
|
|
NM_000162.5(GCK):c.130G>A (p.Gly44Ser)
|
rs267601516
|
|
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile)
|
rs1185622190
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro)
|
rs1131691416
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
NM_000162.5(GCK):c.1368del (p.Cys457fs)
|
|
|
NM_000162.5(GCK):c.184G>A (p.Val62Met)
|
rs1064793998
|
|
NM_000162.5(GCK):c.237G>A (p.Leu79=)
|
|
|
NM_000162.5(GCK):c.28G>A (p.Ala10Thr)
|
|
|
NM_000162.5(GCK):c.315C>A (p.His105Gln)
|
|
|
NM_000162.5(GCK):c.343A>G (p.Met115Val)
|
|
|
NM_000162.5(GCK):c.364-14C>T
|
|
|
NM_000162.5(GCK):c.46-3C>T
|
|
|
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)
|
rs1554335570
|
|
NM_000162.5(GCK):c.483+117T>C
|
|
|
NM_000162.5(GCK):c.483+13G>A
|
|
|
NM_000162.5(GCK):c.49G>C (p.Glu17Gln)
|
|
|
NM_000162.5(GCK):c.53A>G (p.Gln18Arg)
|
|
|
NM_000162.5(GCK):c.544G>A (p.Val182Met)
|
rs587780345
|
|
NM_000162.5(GCK):c.579+12C>G
|
rs202001955
|
|
NM_000162.5(GCK):c.608T>C (p.Val203Ala)
|
rs1562717053
|
|
NM_000162.5(GCK):c.629T>C (p.Met210Thr)
|
rs80356654
|
|
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)
|
rs142952813
|
|
NM_000162.5(GCK):c.667G>A (p.Gly223Ser)
|
rs1360415315
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
NM_000162.5(GCK):c.766G>A (p.Glu256Lys)
|
rs769268803
|
|
NM_000162.5(GCK):c.793G>A (p.Glu265Lys)
|
rs104894011
|
|
NM_000162.5(GCK):c.863+1G>A
|
rs1376796469
|
|
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)
|
rs193922335
|
|
NM_000162.5(GCK):c.907C>A (p.Arg303=)
|
|
|
NM_000162.5(GCK):c.917T>G (p.Leu306Arg)
|
rs193922337
|
|
NM_000162.5(GCK):c.954G>T (p.Gly318=)
|
|
|
NM_000162.5(GCK):c.988T>G (p.Phe330Val)
|
|
|
NM_000162.5(GCK):c.996_997delinsTT (p.Arg333Cys)
|
|
|
NM_000207.3(INS):c.*59A>G
|
rs397515519
|
|
NM_000207.3(INS):c.-152C>A
|
rs748749585
|
|
NM_000207.3(INS):c.-152C>G
|
rs748749585
|
|
NM_000207.3(INS):c.-152C>T
|
|
|
NM_000207.3(INS):c.157A>G (p.Lys53Glu)
|
|
|
NM_000207.3(INS):c.158A>C (p.Lys53Thr)
|
|
|
NM_000207.3(INS):c.170A>G (p.Glu57Gly)
|
|
|
NM_000207.3(INS):c.187+3G>A
|
|
|
NM_000207.3(INS):c.188-16C>A
|
|
|
NM_000207.3(INS):c.194A>T (p.Gln65Leu)
|
|
|
NM_000207.3(INS):c.200A>T (p.Glu67Val)
|
|
|
NM_000207.3(INS):c.208G>A (p.Gly70Arg)
|
|
|
NM_000207.3(INS):c.212G>T (p.Gly71Val)
|
|
|
NM_000207.3(INS):c.35C>T (p.Ala12Val)
|
|
|
NM_000207.3(INS):c.44C>A (p.Ala15Asp)
|
|
|
NM_000207.3(INS):c.67G>A (p.Ala23Thr)
|
rs13306444
|
|
NM_000208.4(INSR):c.1266T>C (p.Ile422=)
|
|
|
NM_000208.4(INSR):c.2107G>A (p.Glu703Lys)
|
|
|
NM_000208.4(INSR):c.2408A>G (p.Asn803Ser)
|
|
|
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr)
|
rs775854644
|
|
NM_000208.4(INSR):c.359T>C (p.Leu120Pro)
|
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-9_653-7delinsC
|
rs1568470641
|
|
NM_000209.4(PDX1):c.101C>T (p.Ala34Val)
|
rs750219172
|
|
NM_000209.4(PDX1):c.124C>A (p.Pro42Thr)
|
|
|
NM_000209.4(PDX1):c.146C>G (p.Pro49Arg)
|
|
|
NM_000209.4(PDX1):c.184C>A (p.Pro62Thr)
|
|
|
NM_000209.4(PDX1):c.188del (p.Pro63fs)
|
rs193929377
|
|
NM_000209.4(PDX1):c.190G>A (p.Asp64Asn)
|
|
|
NM_000209.4(PDX1):c.272C>T (p.Ala91Val)
|
|
|
NM_000209.4(PDX1):c.280C>T (p.His94Tyr)
|
|
|
NM_000209.4(PDX1):c.284C>A (p.Pro95Gln)
|
|
|
NM_000209.4(PDX1):c.286C>G (p.Pro96Ala)
|
|
|
NM_000209.4(PDX1):c.307G>A (p.Gly103Arg)
|
|
|
NM_000209.4(PDX1):c.312C>T (p.Ala104=)
|
rs535722487
|
|
NM_000209.4(PDX1):c.338A>G (p.Asn113Ser)
|
|
|
NM_000209.4(PDX1):c.384C>G (p.His128Gln)
|
|
|
NM_000209.4(PDX1):c.390G>T (p.Trp130Cys)
|
|
|
NM_000209.4(PDX1):c.394G>A (p.Gly132Ser)
|
|
|
NM_000209.4(PDX1):c.411C>T (p.Gly137=)
|
|
|
NM_000209.4(PDX1):c.413C>T (p.Ala138Val)
|
|
|
NM_000209.4(PDX1):c.422C>A (p.Ala141Glu)
|
|
|
NM_000209.4(PDX1):c.506A>G (p.Lys169Arg)
|
|
|
NM_000209.4(PDX1):c.545T>C (p.Met182Thr)
|
|
|
NM_000209.4(PDX1):c.546G>A (p.Met182Ile)
|
|
|
NM_000209.4(PDX1):c.563G>C (p.Arg188Thr)
|
|
|
NM_000209.4(PDX1):c.664G>A (p.Glu222Lys)
|
|
|
NM_000209.4(PDX1):c.667C>T (p.Pro223Ser)
|
|
|
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)
|
|
|
NM_000209.4(PDX1):c.697G>A (p.Glu233Lys)
|
|
|
NM_000209.4(PDX1):c.716C>T (p.Pro239Leu)
|
|
|
NM_000209.4(PDX1):c.722del (p.Pro241fs)
|
|
|
NM_000209.4(PDX1):c.729_731delinsGCCCCG (p.Pro244_Gly245insArg)
|
|
|
NM_000209.4(PDX1):c.732dup (p.Gly245fs)
|
|
|
NM_000209.4(PDX1):c.766G>T (p.Ala256Ser)
|
|
|
NM_000209.4(PDX1):c.776del (p.Gly259fs)
|
|
|
NM_000209.4(PDX1):c.84C>G (p.Phe28Leu)
|
|
|
NM_000209.4(PDX1):c.92G>A (p.Ser31Asn)
|
|
|
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)
|
rs192902098
|
|
NM_000209.4(PDX1):c.97C>T (p.Pro33Ser)
|
|
|
NM_000340.2(SLC2A2):c.1069-7G>T
|
|
|
NM_000340.2(SLC2A2):c.1083G>T (p.Glu361Asp)
|
|
|
NM_000340.2(SLC2A2):c.1111A>T (p.Ile371Phe)
|
|
|
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del)
|
rs772999215
|
|
NM_000340.2(SLC2A2):c.1142T>A (p.Ile381Asn)
|
|
|
NM_000340.2(SLC2A2):c.1225A>T (p.Ser409Cys)
|
|
|
NM_000340.2(SLC2A2):c.1346T>C (p.Ile449Thr)
|
|
|
NM_000340.2(SLC2A2):c.1373C>T (p.Ala458Val)
|
|
|
NM_000340.2(SLC2A2):c.1412G>C (p.Gly471Ala)
|
|
|
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys)
|
rs1560031152
|
|
NM_000340.2(SLC2A2):c.1490C>T (p.Ala497Val)
|
|
|
NM_000340.2(SLC2A2):c.1515dup (p.Ala506fs)
|
|
|
NM_000340.2(SLC2A2):c.1540G>A (p.Glu514Lys)
|
|
|
NM_000340.2(SLC2A2):c.1565A>G (p.Glu522Gly)
|
|
|
NM_000340.2(SLC2A2):c.1567A>T (p.Thr523Ser)
|
|
|
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)
|
rs1447936042
|
|
NM_000340.2(SLC2A2):c.1570G>A (p.Val524Met)
|
|
|
NM_000340.2(SLC2A2):c.182T>C (p.Ile61Thr)
|
|
|
NM_000340.2(SLC2A2):c.195T>A (p.Asp65Glu)
|
|
|
NM_000340.2(SLC2A2):c.250G>T (p.Glu84Ter)
|
|
|
NM_000340.2(SLC2A2):c.2T>C (p.Met1Thr)
|
|
|
NM_000340.2(SLC2A2):c.332C>T (p.Ala111Val)
|
|
|
NM_000340.2(SLC2A2):c.385T>A (p.Leu129Ile)
|
|
|
NM_000340.2(SLC2A2):c.38C>G (p.Thr13Ser)
|
|
|
NM_000340.2(SLC2A2):c.419del (p.Leu140fs)
|
|
|
NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del)
|
rs763620441
|
|
NM_000340.2(SLC2A2):c.474A>C (p.Arg158Ser)
|
|
|
NM_000340.2(SLC2A2):c.497-2A>G
|
rs1318756243
|
|
NM_000340.2(SLC2A2):c.520A>G (p.Met174Val)
|
|
|
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr)
|
rs1293130515
|
|
NM_000340.2(SLC2A2):c.529G>A (p.Gly177Ser)
|
|
|
NM_000340.2(SLC2A2):c.567C>T (p.Gly189=)
|
|
|
NM_000340.2(SLC2A2):c.597C>T (p.Gly199=)
|
|
|
NM_000340.2(SLC2A2):c.613-1G>T
|
|
|
NM_000340.2(SLC2A2):c.670del (p.Leu224fs)
|
|
|
NM_000340.2(SLC2A2):c.706C>T (p.Leu236Phe)
|
|
|
NM_000340.2(SLC2A2):c.70T>G (p.Phe24Val)
|
|
|
NM_000340.2(SLC2A2):c.722A>G (p.Glu241Gly)
|
|
|
NM_000340.2(SLC2A2):c.743T>A (p.Ile248Asn)
|
|
|
NM_000340.2(SLC2A2):c.775+1del
|
|
|
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del)
|
rs774721090
|
|
NM_000340.2(SLC2A2):c.910A>G (p.Ile304Val)
|
|
|
NM_000340.2(SLC2A2):c.914T>C (p.Leu305Pro)
|
|
|
NM_000340.2(SLC2A2):c.936G>C (p.Val312=)
|
|
|
NM_000352.6(ABCC8):c.1011+17del
|
|
|
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.1123G>A (p.Ala375Thr)
|
|
|
NM_000352.6(ABCC8):c.1265C>T (p.Ala422Val)
|
|
|
NM_000352.6(ABCC8):c.1268T>C (p.Ile423Thr)
|
|
|
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)
|
rs370169777
|
|
NM_000352.6(ABCC8):c.1287G>A (p.Met429Ile)
|
|
|
NM_000352.6(ABCC8):c.1333-1013A>G
|
rs980458021
|
|
NM_000352.6(ABCC8):c.1343G>C (p.Gly448Ala)
|
|
|
NM_000352.6(ABCC8):c.1396G>A (p.Val466Ile)
|
|
|
NM_000352.6(ABCC8):c.13T>G (p.Phe5Val)
|
|
|
NM_000352.6(ABCC8):c.1429G>A (p.Val477Met)
|
|
|
NM_000352.6(ABCC8):c.1468-14G>A
|
|
|
NM_000352.6(ABCC8):c.1468-2A>G
|
|
|
NM_000352.6(ABCC8):c.148+1G>A
|
|
|
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.1577G>A (p.Arg526His)
|
|
|
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)
|
rs193922397
|
|
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)
|
rs2133554613
|
|
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.1731del (p.Phe577fs)
|
|
|
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.1819G>A (p.Val607Met)
|
|
|
NM_000352.6(ABCC8):c.1879del (p.His627fs)
|
rs764613146
|
|
NM_000352.6(ABCC8):c.1893del (p.Gln632fs)
|
rs2133539303
|
|
NM_000352.6(ABCC8):c.1900C>G (p.Pro634Ala)
|
|
|
NM_000352.6(ABCC8):c.1901del (p.Pro634fs)
|
|
|
NM_000352.6(ABCC8):c.1924-18C>A
|
|
|
NM_000352.6(ABCC8):c.1957C>T (p.Arg653Trp)
|
|
|
NM_000352.6(ABCC8):c.1962G>C (p.Glu654Asp)
|
|
|
NM_000352.6(ABCC8):c.1A>G (p.Met1Val)
|
|
|
NM_000352.6(ABCC8):c.2004del (p.Ser669fs)
|
|
|
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.2054A>G (p.Tyr685Cys)
|
|
|
NM_000352.6(ABCC8):c.2073T>A (p.Asp691Glu)
|
|
|
NM_000352.6(ABCC8):c.2114G>A (p.Arg705Gln)
|
|
|
NM_000352.6(ABCC8):c.2135T>C (p.Val712Ala)
|
|
|
NM_000352.6(ABCC8):c.2152G>A (p.Gly718Ser)
|
|
|
NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe)
|
|
|
NM_000352.6(ABCC8):c.2176G>T (p.Ala726Ser)
|
|
|
NM_000352.6(ABCC8):c.2191C>G (p.Gln731Glu)
|
|
|
NM_000352.6(ABCC8):c.2222+15C>A
|
rs377174421
|
|
NM_000352.6(ABCC8):c.2222+1G>A
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter)
|
rs753296261
|
|
NM_000352.6(ABCC8):c.2245_2249del (p.Glu749fs)
|
|
|
NM_000352.6(ABCC8):c.2255+2T>C
|
rs1057516589
|
|
NM_000352.6(ABCC8):c.2256C>T (p.Ser752=)
|
|
|
NM_000352.6(ABCC8):c.2278G>A (p.Asp760Asn)
|
|
|
NM_000352.6(ABCC8):c.2291+1G>A
|
rs1160946320
|
|
NM_000352.6(ABCC8):c.2305G>A (p.Val769Met)
|
|
|
NM_000352.6(ABCC8):c.2309C>G (p.Ala770Gly)
|
|
|
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=)
|
rs766321878
|
|
NM_000352.6(ABCC8):c.2389C>G (p.Arg797Gly)
|
|
|
NM_000352.6(ABCC8):c.2391-5G>T
|
|
|
NM_000352.6(ABCC8):c.2391-9C>A
|
|
|
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)
|
rs797045208
|
|
NM_000352.6(ABCC8):c.2434G>A (p.Asp812Asn)
|
|
|
NM_000352.6(ABCC8):c.2449G>A (p.Gly817Arg)
|
|
|
NM_000352.6(ABCC8):c.2465T>C (p.Ile822Thr)
|
|
|
NM_000352.6(ABCC8):c.2470G>T (p.Glu824Ter)
|
|
|
NM_000352.6(ABCC8):c.2473C>T (p.Arg825Trp)
|
rs779736828
|
|
NM_000352.6(ABCC8):c.2492del (p.Gly831fs)
|
|
|
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly)
|
rs1484689392
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
|
NM_000352.6(ABCC8):c.2543A>G (p.Asn848Ser)
|
|
|
NM_000352.6(ABCC8):c.2572G>A (p.Ala858Thr)
|
|
|
NM_000352.6(ABCC8):c.25G>T (p.Glu9Ter)
|
|
|
NM_000352.6(ABCC8):c.2630G>A (p.Arg877Gln)
|
|
|
NM_000352.6(ABCC8):c.2662del (p.His888fs)
|
|
|
NM_000352.6(ABCC8):c.2680C>T (p.Pro894Ser)
|
|
|
NM_000352.6(ABCC8):c.2689G>T (p.Asp897Tyr)
|
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.2694+1G>A
|
|
|
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
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NM_000352.6(ABCC8):c.2869C>T (p.Arg957Cys)
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NM_000352.6(ABCC8):c.2894T>C (p.Leu965Pro)
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NM_000352.6(ABCC8):c.290+2T>C
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rs1554948310
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NM_000352.6(ABCC8):c.291-5C>T
|
rs2133711631
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NM_000352.6(ABCC8):c.2917G>T (p.Glu973Ter)
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NM_000352.6(ABCC8):c.291G>A (p.Gly97=)
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NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr)
|
rs568576108
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NM_000352.6(ABCC8):c.2929G>C (p.Ala977Pro)
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NM_000352.6(ABCC8):c.2957C>T (p.Ser986Leu)
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NM_000352.6(ABCC8):c.2960C>T (p.Ser987Phe)
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NM_000352.6(ABCC8):c.2969A>C (p.His990Pro)
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NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro)
|
rs201499958
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NM_000352.6(ABCC8):c.2980G>A (p.Glu994Lys)
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NM_000352.6(ABCC8):c.298G>A (p.Glu100Lys)
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NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro)
|
rs776248166
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NM_000352.6(ABCC8):c.3001G>A (p.Ala1001Thr)
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NM_000352.6(ABCC8):c.3009C>G (p.Tyr1003Ter)
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NM_000352.6(ABCC8):c.3014C>T (p.Ser1005Phe)
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NM_000352.6(ABCC8):c.3019G>C (p.Ala1007Pro)
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NM_000352.6(ABCC8):c.302C>T (p.Ser101Phe)
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NM_000352.6(ABCC8):c.3096_3097delinsAA (p.Trp1032_Leu1033delinsTer)
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NM_000352.6(ABCC8):c.3117C>A (p.Ser1039Arg)
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NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs)
|
rs786204542
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NM_000352.6(ABCC8):c.3162+1G>A
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NM_000352.6(ABCC8):c.3168C>T (p.Cys1056=)
|
rs1799860
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NM_000352.6(ABCC8):c.3170C>A (p.Thr1057Asn)
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NM_000352.6(ABCC8):c.3188A>G (p.Tyr1063Cys)
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NM_000352.6(ABCC8):c.3238G>A (p.Val1080Ile)
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NM_000352.6(ABCC8):c.3261G>A (p.Trp1087Ter)
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NM_000352.6(ABCC8):c.3327G>C (p.Met1109Ile)
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NM_000352.6(ABCC8):c.3330-5C>T
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NM_000352.6(ABCC8):c.3330G>A (p.Arg1110=)
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NM_000352.6(ABCC8):c.3335T>C (p.Phe1112Ser)
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NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
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NM_000352.6(ABCC8):c.3399G>T (p.Gln1133His)
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NM_000352.6(ABCC8):c.3400-1G>A
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rs576684889
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NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=)
|
rs762412267
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NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)
|
rs1263082097
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NM_000352.6(ABCC8):c.3455C>A (p.Ala1152Asp)
|
rs1354859002
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NM_000352.6(ABCC8):c.3457C>A (p.Leu1153Met)
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NM_000352.6(ABCC8):c.3484G>A (p.Val1162Met)
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NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)
|
rs587783169
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NM_000352.6(ABCC8):c.3515T>A (p.Ile1172Asn)
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NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)
|
rs1057516317
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NM_000352.6(ABCC8):c.3589C>G (p.Leu1197Val)
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NM_000352.6(ABCC8):c.3623_3625del (p.Glu1208del)
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NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly)
|
rs770028071
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NM_000352.6(ABCC8):c.3650+2T>C
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NM_000352.6(ABCC8):c.3650+2T>G
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NM_000352.6(ABCC8):c.3662G>A (p.Arg1221Gln)
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NM_000352.6(ABCC8):c.3665T>C (p.Phe1222Ser)
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NM_000352.6(ABCC8):c.3682G>A (p.Glu1228Lys)
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NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=)
|
rs775699878
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NM_000352.6(ABCC8):c.3775G>A (p.Val1259Met)
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NM_000352.6(ABCC8):c.3777G>T (p.Val1259=)
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NM_000352.6(ABCC8):c.3799A>G (p.Ile1267Val)
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NM_000352.6(ABCC8):c.3837G>A (p.Leu1279=)
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NM_000352.6(ABCC8):c.3867+1G>A
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NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser)
|
rs763104338
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NM_000352.6(ABCC8):c.3893T>A (p.Val1298Glu)
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NM_000352.6(ABCC8):c.389C>G (p.Ser130Cys)
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NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)
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NM_000352.6(ABCC8):c.392A>C (p.Asn131Thr)
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NM_000352.6(ABCC8):c.3988+19G>C
|
rs576340695
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NM_000352.6(ABCC8):c.3988+9C>G
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NM_000352.6(ABCC8):c.3988G>T (p.Ala1330Ser)
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NM_000352.6(ABCC8):c.3989-14A>G
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NM_000352.6(ABCC8):c.3989-28_3989-11del
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NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met)
|
rs886039301
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NM_000352.6(ABCC8):c.4034A>G (p.Gln1345Arg)
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NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His)
|
rs28936370
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NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)
|
rs28936370
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NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
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NM_000352.6(ABCC8):c.4089C>G (p.His1363Gln)
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NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)
|
rs138642224
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NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe)
|
rs138642224
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NM_000352.6(ABCC8):c.4105G>A (p.Ala1369Thr)
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NM_000352.6(ABCC8):c.413-5G>A
|
rs186946111
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NM_000352.6(ABCC8):c.413-5G>C
|
rs186946111
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NM_000352.6(ABCC8):c.4140C>A (p.Thr1380=)
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NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=)
|
rs1250433233
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NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
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NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)
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NM_000352.6(ABCC8):c.4198+3G>T
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NM_000352.6(ABCC8):c.4207A>G (p.Ile1403Val)
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NM_000352.6(ABCC8):c.4228G>A (p.Ala1410Thr)
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NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu)
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NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)
|
rs1446306735
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NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
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NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)
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NM_000352.6(ABCC8):c.4283_4290del (p.Pro1428fs)
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NM_000352.6(ABCC8):c.4288C>T (p.Leu1430Phe)
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NM_000352.6(ABCC8):c.4326G>C (p.Glu1442Asp)
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NM_000352.6(ABCC8):c.432_435dup (p.Ala146fs)
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NM_000352.6(ABCC8):c.4345A>C (p.Thr1449Pro)
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NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro)
|
rs1554904565
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NM_000352.6(ABCC8):c.4357G>A (p.Ala1453Thr)
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NM_000352.6(ABCC8):c.4411+18T>G
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NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=)
|
rs1953794808
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NM_000352.6(ABCC8):c.443T>C (p.Ile148Thr)
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NM_000352.6(ABCC8):c.4456A>G (p.Arg1486Gly)
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NM_000352.6(ABCC8):c.4498A>G (p.Ser1500Gly)
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NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met)
|
rs769989185
|
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NM_000352.6(ABCC8):c.4565del (p.Val1522fs)
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NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)
|
rs758231286
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NM_000352.6(ABCC8):c.4601C>A (p.Thr1534Asn)
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NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)
|
rs1411638309
|
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NM_000352.6(ABCC8):c.4657C>T (p.Arg1553Trp)
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NM_000352.6(ABCC8):c.4661G>T (p.Gly1554Val)
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NM_000352.6(ABCC8):c.4702C>T (p.Arg1568Trp)
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NM_000352.6(ABCC8):c.496C>T (p.Gln166Ter)
|
rs1591896370
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NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)
|
rs770664202
|
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NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
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NM_000352.6(ABCC8):c.580-1G>C
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NM_000352.6(ABCC8):c.597_598dup (p.Thr200fs)
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NM_000352.6(ABCC8):c.643G>T (p.Val215Leu)
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NM_000352.6(ABCC8):c.664G>A (p.Val222Met)
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NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
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NM_000352.6(ABCC8):c.703G>A (p.Ala235Thr)
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NM_000352.6(ABCC8):c.713A>G (p.Lys238Arg)
|
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NM_000352.6(ABCC8):c.73G>A (p.Gly25Ser)
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NM_000352.6(ABCC8):c.743G>A (p.Arg248Gln)
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NM_000352.6(ABCC8):c.752G>A (p.Gly251Glu)
|
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NM_000352.6(ABCC8):c.752G>T (p.Gly251Val)
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NM_000352.6(ABCC8):c.763A>G (p.Ile255Val)
|
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NM_000352.6(ABCC8):c.795G>T (p.Arg265=)
|
rs1386314454
|
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NM_000352.6(ABCC8):c.7C>G (p.Leu3Val)
|
|
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NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
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NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp)
|
rs372930264
|
|
NM_000352.6(ABCC8):c.814G>A (p.Ala272Thr)
|
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NM_000352.6(ABCC8):c.823C>T (p.Arg275Trp)
|
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NM_000352.6(ABCC8):c.868G>C (p.Ala290Pro)
|
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|
NM_000352.6(ABCC8):c.874A>G (p.Ser292Gly)
|
|
|
NM_000352.6(ABCC8):c.878A>G (p.His293Arg)
|
rs587783175
|
|
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser)
|
rs751228166
|
|
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
|
|
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NM_000352.6(ABCC8):c.97G>T (p.Val33Leu)
|
rs768372267
|
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NM_000352.6(ABCC8):c.984G>T (p.Gly328=)
|
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|
NM_000458.4(HNF1B):c.1000_1001insA (p.Ser334fs)
|
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NM_000458.4(HNF1B):c.1006C>A (p.His336Asn)
|
rs138986885
|
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NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
|
|
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NM_000458.4(HNF1B):c.1013A>G (p.Gln338Arg)
|
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NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
|
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NM_000458.4(HNF1B):c.1033A>G (p.Asn345Asp)
|
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|
NM_000458.4(HNF1B):c.1038G>A (p.Lys346=)
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NM_000458.4(HNF1B):c.1046G>A (p.Gly349Glu)
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NM_000458.4(HNF1B):c.1051C>T (p.Arg351Cys)
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NM_000458.4(HNF1B):c.1056_1057del (p.Tyr352_Ser353delinsTer)
|
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NM_000458.4(HNF1B):c.1062G>T (p.Gln354His)
|
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NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
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NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs)
|
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|
NM_000458.4(HNF1B):c.1121T>C (p.Met374Thr)
|
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|
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs)
|
rs2147473703
|
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NM_000458.4(HNF1B):c.116T>A (p.Phe39Tyr)
|
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|
NM_000458.4(HNF1B):c.1196A>G (p.Asp399Gly)
|
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|
NM_000458.4(HNF1B):c.1213G>C (p.Val405Leu)
|
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NM_000458.4(HNF1B):c.1365T>G (p.Ser455Arg)
|
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NM_000458.4(HNF1B):c.1399G>A (p.Ala467Thr)
|
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NM_000458.4(HNF1B):c.1406_1413del (p.Leu469fs)
|
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NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
|
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NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
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|
NM_000458.4(HNF1B):c.1493A>C (p.Gln498Pro)
|
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NM_000458.4(HNF1B):c.1507G>C (p.Ala503Pro)
|
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|
NM_000458.4(HNF1B):c.1525A>C (p.Asn509His)
|
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NM_000458.4(HNF1B):c.1543C>T (p.His515Tyr)
|
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|
NM_000458.4(HNF1B):c.1544A>G (p.His515Arg)
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NM_000458.4(HNF1B):c.1562A>G (p.Gln521Arg)
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NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
|
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NM_000458.4(HNF1B):c.171C>A (p.Asp57Glu)
|
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NM_000458.4(HNF1B):c.191C>G (p.Thr64Ser)
|
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NM_000458.4(HNF1B):c.193C>T (p.Leu65Phe)
|
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|
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
|
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|
NM_000458.4(HNF1B):c.305A>C (p.Glu102Ala)
|
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NM_000458.4(HNF1B):c.315G>T (p.Glu105Asp)
|
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|
NM_000458.4(HNF1B):c.332A>G (p.Asp111Gly)
|
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NM_000458.4(HNF1B):c.33_34del (p.Glu11fs)
|
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NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)
|
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NM_000458.4(HNF1B):c.377A>G (p.Lys126Arg)
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NM_000458.4(HNF1B):c.381_382del (p.Tyr128fs)
|
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|
NM_000458.4(HNF1B):c.385A>G (p.Met129Val)
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NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
|
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NM_000458.4(HNF1B):c.454C>T (p.Gln152Ter)
|
|
|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
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NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000458.4(HNF1B):c.514del (p.Tyr172fs)
|
|
|
NM_000458.4(HNF1B):c.516C>T (p.Tyr172=)
|
rs764561297
|
|
NM_000458.4(HNF1B):c.521_527del (p.Arg174fs)
|
|
|
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
|
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NM_000458.4(HNF1B):c.538C>T (p.Leu180Phe)
|
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|
NM_000458.4(HNF1B):c.538_541del (p.Leu180fs)
|
|
|
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
|
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|
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)
|
|
|
NM_000458.4(HNF1B):c.544+14T>A
|
rs759120365
|
|
NM_000458.4(HNF1B):c.544+1G>A
|
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|
NM_000458.4(HNF1B):c.544+5G>A
|
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|
NM_000458.4(HNF1B):c.544C>G (p.Gln182Glu)
|
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|
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
|
|
|
NM_000458.4(HNF1B):c.558_561del (p.Val187fs)
|
|
|
NM_000458.4(HNF1B):c.577A>T (p.Met193Leu)
|
|
|
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)
|
rs760079000
|
|
NM_000458.4(HNF1B):c.601C>G (p.Gln201Glu)
|
|
|
NM_000458.4(HNF1B):c.622G>C (p.Glu208Gln)
|
|
|
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter)
|
rs2147553451
|
|
NM_000458.4(HNF1B):c.657C>T (p.Ser219=)
|
rs148713761
|
|
NM_000458.4(HNF1B):c.658G>C (p.Asp220His)
|
rs377555356
|
|
NM_000458.4(HNF1B):c.68A>G (p.Lys23Arg)
|
|
|
NM_000458.4(HNF1B):c.694C>T (p.Arg232Cys)
|
|
|
NM_000458.4(HNF1B):c.695G>A (p.Arg232His)
|
|
|
NM_000458.4(HNF1B):c.721G>A (p.Ala241Thr)
|
|
|
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp)
|
rs748416956
|
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
|
|
NM_000458.4(HNF1B):c.78G>T (p.Leu26=)
|
|
|
NM_000458.4(HNF1B):c.809+1G>A
|
|
|
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
|
|
|
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)
|
|
|
NM_000458.4(HNF1B):c.831G>A (p.Gly277=)
|
rs199797518
|
|
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
|
|
|
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
|
|
|
NM_000458.4(HNF1B):c.891C>A (p.Tyr297Ter)
|
|
|
NM_000458.4(HNF1B):c.908G>A (p.Arg303His)
|
rs2033692404
|
|
NM_000458.4(HNF1B):c.949G>A (p.Ala317Thr)
|
|
|
NM_000458.4(HNF1B):c.953A>G (p.Tyr318Cys)
|
|
|
NM_000458.4(HNF1B):c.988C>T (p.Leu330Phe)
|
|
|
NM_000458.4(HNF1B):c.995A>G (p.His332Arg)
|
|
|
NM_000458.4(HNF1B):c.997G>A (p.Gly333Ser)
|
|
|
NM_000507.4(FBP1):c.427-2A>G
|
|
|
NM_000507.4(FBP1):c.704del (p.Pro235fs)
|
rs774362519
|
|
NM_000507.4(FBP1):c.816dup (p.Asn273fs)
|
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys)
|
rs1440128889
|
|
NM_000525.4(KCNJ11):c.-150G>A
|
rs886048043
|
|
NM_000525.4(KCNJ11):c.1030_1031del (p.Cys344fs)
|
|
|
NM_000525.4(KCNJ11):c.1033A>G (p.Thr345Ala)
|
|
|
NM_000525.4(KCNJ11):c.1060A>G (p.Ser354Gly)
|
|
|
NM_000525.4(KCNJ11):c.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.154C>T (p.Gln52Ter)
|
rs879253757
|
|
NM_000525.4(KCNJ11):c.190G>T (p.Val64Leu)
|
|
|
NM_000525.4(KCNJ11):c.212C>T (p.Thr71Ile)
|
|
|
NM_000525.4(KCNJ11):c.224T>A (p.Phe75Tyr)
|
|
|
NM_000525.4(KCNJ11):c.293G>A (p.Gly98Asp)
|
|
|
NM_000525.4(KCNJ11):c.325C>T (p.Pro109Ser)
|
|
|
NM_000525.4(KCNJ11):c.344A>G (p.His115Arg)
|
|
|
NM_000525.4(KCNJ11):c.406C>A (p.Arg136Ser)
|
rs766891274
|
|
NM_000525.4(KCNJ11):c.430C>G (p.Leu144Val)
|
|
|
NM_000525.4(KCNJ11):c.433G>T (p.Ala145Ser)
|
|
|
NM_000525.4(KCNJ11):c.46C>T (p.Arg16Cys)
|
|
|
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.66_67inv (p.Lys23Glu)
|
|
|
NM_000525.4(KCNJ11):c.719T>C (p.Met240Thr)
|
|
|
NM_000525.4(KCNJ11):c.730G>A (p.Val244Met)
|
|
|
NM_000525.4(KCNJ11):c.733G>T (p.Gly245Cys)
|
|
|
NM_000525.4(KCNJ11):c.758C>T (p.Ala253Val)
|
|
|
NM_000525.4(KCNJ11):c.814C>T (p.Pro272Ser)
|
|
|
NM_000525.4(KCNJ11):c.817A>G (p.Ser273Gly)
|
|
|
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)
|
rs750414160
|
|
NM_000525.4(KCNJ11):c.901C>T (p.Arg301Cys)
|
rs377091338
|
|
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile)
|
rs761575495
|
|
NM_000525.4(KCNJ11):c.943T>G (p.Phe315Val)
|
|
|
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser)
|
rs550315112
|
|
NM_000525.4(KCNJ11):c.973C>T (p.Arg325Cys)
|
|
|
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=)
|
rs1489389760
|
|
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)
|
rs193922598
|
|
NM_000545.8(HNF1A):c.-119G>A
|
|
|
NM_000545.8(HNF1A):c.-133_-128dup
|
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
NM_000545.8(HNF1A):c.-62C>G
|
|
|
NM_000545.8(HNF1A):c.-64_-55delinsGC
|
|
|
NM_000545.8(HNF1A):c.1036_1056dup (p.Ser352_Pro353insThrProLeuHisGlnValSer)
|
|
|
NM_000545.8(HNF1A):c.1107+6T>C
|
|
|
NM_000545.8(HNF1A):c.1107+9C>T
|
|
|
NM_000545.8(HNF1A):c.1107G>C (p.Leu369=)
|
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
NM_000545.8(HNF1A):c.1206C>A (p.Asn402Lys)
|
|
|
NM_000545.8(HNF1A):c.1309+16T>C
|
|
|
NM_000545.8(HNF1A):c.1310-2A>G
|
rs2135847311
|
|
NM_000545.8(HNF1A):c.1322C>T (p.Thr441Met)
|
|
|
NM_000545.8(HNF1A):c.1361G>A (p.Ser454Asn)
|
|
|
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
|
|
NM_000545.8(HNF1A):c.1456C>T (p.Gln486Ter)
|
|
|
NM_000545.8(HNF1A):c.1469T>C (p.Met490Thr)
|
|
|
NM_000545.8(HNF1A):c.1474A>G (p.Thr492Ala)
|
|
|
NM_000545.8(HNF1A):c.1501+1G>A
|
rs1131692182
|
|
NM_000545.8(HNF1A):c.1512C>A (p.Ser504Arg)
|
|
|
NM_000545.8(HNF1A):c.1526T>C (p.Val509Ala)
|
|
|
NM_000545.8(HNF1A):c.1544C>T (p.Thr515Met)
|
rs745460046
|
|
NM_000545.8(HNF1A):c.154G>A (p.Gly52Ser)
|
|
|
NM_000545.8(HNF1A):c.1555_1556dup (p.Gln520fs)
|
|
|
NM_000545.8(HNF1A):c.1575_1576delinsA (p.Asp526fs)
|
|
|
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)
|
rs372624970
|
|
NM_000545.8(HNF1A):c.1668_1669delinsAT (p.His556_Thr557delinsGlnSer)
|
|
|
NM_000545.8(HNF1A):c.1715del (p.Pro572fs)
|
|
|
NM_000545.8(HNF1A):c.1717G>T (p.Ala573Ser)
|
|
|
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
|
|
|
NM_000545.8(HNF1A):c.1720_1721delinsGA (p.Ser574Asp)
|
|
|
NM_000545.8(HNF1A):c.1720delinsGGCATCCAGCACCG (p.Ser574fs)
|
|
|
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)
|
rs1877318918
|
|
NM_000545.8(HNF1A):c.1768+5G>A
|
|
|
NM_000545.8(HNF1A):c.1789C>T (p.Leu597=)
|
|
|
NM_000545.8(HNF1A):c.1810A>G (p.Ser604Gly)
|
|
|
NM_000545.8(HNF1A):c.1812C>G (p.Ser604Arg)
|
|
|
NM_000545.8(HNF1A):c.181C>T (p.Pro61Ser)
|
|
|
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)
|
rs2135854619
|
|
NM_000545.8(HNF1A):c.1838C>T (p.Ser613Phe)
|
|
|
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met)
|
rs193922591
|
|
NM_000545.8(HNF1A):c.1864A>C (p.Ile622Leu)
|
|
|
NM_000545.8(HNF1A):c.1877T>A (p.Met626Lys)
|
|
|
NM_000545.8(HNF1A):c.216C>G (p.Asp72Glu)
|
|
|
NM_000545.8(HNF1A):c.223G>A (p.Asp75Asn)
|
|
|
NM_000545.8(HNF1A):c.238G>T (p.Asp80Tyr)
|
rs76845985
|
|
NM_000545.8(HNF1A):c.272A>G (p.Asn91Ser)
|
|
|
NM_000545.8(HNF1A):c.283G>A (p.Glu95Lys)
|
rs1555210473
|
|
NM_000545.8(HNF1A):c.354G>A (p.Met118Ile)
|
|
|
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)
|
rs753998395
|
|
NM_000545.8(HNF1A):c.3G>A (p.Met1Ile)
|
|
|
NM_000545.8(HNF1A):c.41C>T (p.Ala14Val)
|
rs772214801
|
|
NM_000545.8(HNF1A):c.464A>G (p.Lys155Arg)
|
|
|
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=)
|
rs1876675633
|
|
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)
|
rs754728827
|
|
NM_000545.8(HNF1A):c.542G>A (p.Gly181Glu)
|
|
|
NM_000545.8(HNF1A):c.548G>C (p.Gly183Ala)
|
|
|
NM_000545.8(HNF1A):c.587C>G (p.Thr196Ser)
|
|
|
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)
|
rs769086289
|
|
NM_000545.8(HNF1A):c.691A>T (p.Thr231Ser)
|
|
|
NM_000545.8(HNF1A):c.788G>A (p.Arg263His)
|
rs1057520504
|
|
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)
|
rs1555212014
|
|
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)
|
rs1288094664
|
|
NM_000545.8(HNF1A):c.845C>A (p.Ala282Asp)
|
|
|
NM_000545.8(HNF1A):c.862G>A (p.Gly288Arg)
|
|
|
NM_000545.8(HNF1A):c.863_864inv (p.Gly288Ala)
|
|
|
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
|
rs762703502
|
|
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs)
|
rs1593058932
|
|
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)
|
rs765829022
|
|
NM_000545.8(HNF1A):c.869C>A (p.Pro290His)
|
rs778231679
|
|
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)
|
rs151256267
|
|
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala)
|
rs151256267
|
|
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu)
|
rs193922606
|
|
NM_000545.8(HNF1A):c.893C>T (p.Ala298Val)
|
|
|
NM_000545.8(HNF1A):c.929C>T (p.Pro310Leu)
|
|
|
NM_000545.8(HNF1A):c.932C>G (p.Ala311Gly)
|
|
|
NM_000545.8(HNF1A):c.943A>C (p.Ser315Arg)
|
|
|
NM_000545.8(HNF1A):c.950T>C (p.Val317Ala)
|
|
|
NM_000545.8(HNF1A):c.961C>T (p.Arg321Cys)
|
|
|
NM_000545.8(HNF1A):c.973C>A (p.Pro325Thr)
|
|
|
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val)
|
rs369764257
|
|
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)
|
rs113994143
|
|
NM_001040716.2(PC):c.1368+1G>A
|
rs755640269
|
|
NM_001040716.2(PC):c.1368+1G>C
|
|
|
NM_001040716.2(PC):c.1513+9C>A
|
rs45580638
|
|
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)
|
rs28940589
|
|
NM_001040716.2(PC):c.2206_2218delinsTT (p.His736fs)
|
|
|
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp)
|
rs2135798857
|
|
NM_001040716.2(PC):c.2473+2_2473+5del
|
|
|
NM_001040716.2(PC):c.280C>T (p.Gln94Ter)
|
|
|
NM_001040716.2(PC):c.2895del (p.Lys966fs)
|
|
|
NM_001040716.2(PC):c.2971G>T (p.Glu991Ter)
|
|
|
NM_001040716.2(PC):c.3135del (p.Glu1046fs)
|
|
|
NM_001040716.2(PC):c.3387del (p.Lys1130fs)
|
rs2135783409
|
|
NM_001040716.2(PC):c.80del (p.Pro27fs)
|
|
|
NM_001040716.2(PC):c.854dup (p.Gln286fs)
|
|
|
NM_001042413.2(GLIS3):c.*69T>C
|
rs913597564
|
|
NM_001042413.2(GLIS3):c.1063C>A (p.Arg355Ser)
|
|
|
NM_001042413.2(GLIS3):c.1070G>C (p.Ser357Thr)
|
|
|
NM_001042413.2(GLIS3):c.1073G>T (p.Cys358Phe)
|
|
|
NM_001042413.2(GLIS3):c.1145C>A (p.Pro382Gln)
|
|
|
NM_001042413.2(GLIS3):c.1175A>T (p.His392Leu)
|
|
|
NM_001042413.2(GLIS3):c.1177G>A (p.Glu393Lys)
|
|
|
NM_001042413.2(GLIS3):c.119C>T (p.Pro40Leu)
|
|
|
NM_001042413.2(GLIS3):c.1203C>T (p.Gly401=)
|
|
|
NM_001042413.2(GLIS3):c.122C>T (p.Ser41Leu)
|
|
|
NM_001042413.2(GLIS3):c.1232T>C (p.Met411Thr)
|
|
|
NM_001042413.2(GLIS3):c.1237del (p.Val413fs)
|
|
|
NM_001042413.2(GLIS3):c.124C>A (p.Pro42Thr)
|
|
|
NM_001042413.2(GLIS3):c.1276G>T (p.Gly426Cys)
|
|
|
NM_001042413.2(GLIS3):c.1306T>G (p.Phe436Val)
|
|
|
NM_001042413.2(GLIS3):c.1320C>G (p.Thr440=)
|
|
|
NM_001042413.2(GLIS3):c.1333C>G (p.Pro445Ala)
|
|
|
NM_001042413.2(GLIS3):c.1337C>T (p.Ala446Val)
|
|
|
NM_001042413.2(GLIS3):c.1339C>T (p.Pro447Ser)
|
|
|
NM_001042413.2(GLIS3):c.1358C>T (p.Pro453Leu)
|
|
|
NM_001042413.2(GLIS3):c.1400A>C (p.His467Pro)
|
|
|
NM_001042413.2(GLIS3):c.1402C>T (p.Leu468Phe)
|
|
|
NM_001042413.2(GLIS3):c.1426C>G (p.His476Asp)
|
|
|
NM_001042413.2(GLIS3):c.1435C>T (p.Gln479Ter)
|
|
|
NM_001042413.2(GLIS3):c.1483G>A (p.Gly495Ser)
|
|
|
NM_001042413.2(GLIS3):c.1486A>G (p.Ile496Val)
|
|
|
NM_001042413.2(GLIS3):c.1489G>A (p.Gly497Arg)
|
|
|
NM_001042413.2(GLIS3):c.1493G>T (p.Gly498Val)
|
|
|
NM_001042413.2(GLIS3):c.1494C>T (p.Gly498=)
|
|
|
NM_001042413.2(GLIS3):c.1499A>T (p.His500Leu)
|
|
|
NM_001042413.2(GLIS3):c.1507C>T (p.Arg503Cys)
|
|
|
NM_001042413.2(GLIS3):c.1517A>T (p.Asp506Val)
|
|
|
NM_001042413.2(GLIS3):c.1518C>G (p.Asp506Glu)
|
|
|
NM_001042413.2(GLIS3):c.1578C>G (p.Ile526Met)
|
|
|
NM_001042413.2(GLIS3):c.1591G>A (p.Gly531Arg)
|
|
|
NM_001042413.2(GLIS3):c.1592G>A (p.Gly531Glu)
|
|
|
NM_001042413.2(GLIS3):c.1603_1604delinsCG (p.Thr535Arg)
|
|
|
NM_001042413.2(GLIS3):c.1628G>A (p.Arg543Gln)
|
|
|
NM_001042413.2(GLIS3):c.1664T>G (p.Leu555Arg)
|
|
|
NM_001042413.2(GLIS3):c.1668C>G (p.Ile556Met)
|
|
|
NM_001042413.2(GLIS3):c.166A>G (p.Asn56Asp)
|
|
|
NM_001042413.2(GLIS3):c.1678G>A (p.Val560Ile)
|
|
|
NM_001042413.2(GLIS3):c.1692G>C (p.Glu564Asp)
|
|
|
NM_001042413.2(GLIS3):c.1709C>T (p.Thr570Met)
|
|
|
NM_001042413.2(GLIS3):c.1807G>C (p.Gly603Arg)
|
|
|
NM_001042413.2(GLIS3):c.187C>T (p.Pro63Ser)
|
|
|
NM_001042413.2(GLIS3):c.1904C>T (p.Thr635Ile)
|
|
|
NM_001042413.2(GLIS3):c.1909C>G (p.Arg637Gly)
|
|
|
NM_001042413.2(GLIS3):c.1910G>A (p.Arg637His)
|
|
|
NM_001042413.2(GLIS3):c.1943T>G (p.Val648Gly)
|
|
|
NM_001042413.2(GLIS3):c.1955C>G (p.Ser652Cys)
|
|
|
NM_001042413.2(GLIS3):c.2000A>C (p.Glu667Ala)
|
|
|
NM_001042413.2(GLIS3):c.2021C>T (p.Thr674Ile)
|
|
|
NM_001042413.2(GLIS3):c.2072C>T (p.Ala691Val)
|
|
|
NM_001042413.2(GLIS3):c.208C>T (p.Pro70Ser)
|
|
|
NM_001042413.2(GLIS3):c.2145C>T (p.Ser715=)
|
|
|
NM_001042413.2(GLIS3):c.2146A>C (p.Asn716His)
|
|
|
NM_001042413.2(GLIS3):c.2155A>G (p.Ser719Gly)
|
|
|
NM_001042413.2(GLIS3):c.2182G>A (p.Val728Ile)
|
|
|
NM_001042413.2(GLIS3):c.2270T>C (p.Leu757Pro)
|
|
|
NM_001042413.2(GLIS3):c.2303C>T (p.Ala768Val)
|
|
|
NM_001042413.2(GLIS3):c.2323C>T (p.His775Tyr)
|
rs745671153
|
|
NM_001042413.2(GLIS3):c.2325C>G (p.His775Gln)
|
|
|
NM_001042413.2(GLIS3):c.2338C>G (p.Arg780Gly)
|
|
|
NM_001042413.2(GLIS3):c.2380C>A (p.Pro794Thr)
|
|
|
NM_001042413.2(GLIS3):c.2395C>A (p.Gln799Lys)
|
|
|
NM_001042413.2(GLIS3):c.2423A>G (p.Tyr808Cys)
|
|
|
NM_001042413.2(GLIS3):c.2434A>G (p.Thr812Ala)
|
|
|
NM_001042413.2(GLIS3):c.2471A>C (p.His824Pro)
|
|
|
NM_001042413.2(GLIS3):c.2473+13C>G
|
|
|
NM_001042413.2(GLIS3):c.2473+13C>T
|
rs368773221
|
|
NM_001042413.2(GLIS3):c.2474G>C (p.Gly825Ala)
|
|
|
NM_001042413.2(GLIS3):c.250T>G (p.Leu84Val)
|
|
|
NM_001042413.2(GLIS3):c.2515C>G (p.Pro839Ala)
|
|
|
NM_001042413.2(GLIS3):c.252A>T (p.Leu84Phe)
|
|
|
NM_001042413.2(GLIS3):c.2542G>C (p.Val848Leu)
|
|
|
NM_001042413.2(GLIS3):c.254G>A (p.Ser85Asn)
|
|
|
NM_001042413.2(GLIS3):c.2555G>T (p.Ser852Ile)
|
|
|
NM_001042413.2(GLIS3):c.2567C>G (p.Ser856Trp)
|
|
|
NM_001042413.2(GLIS3):c.2576A>G (p.Asp859Gly)
|
|
|
NM_001042413.2(GLIS3):c.2596A>G (p.Met866Val)
|
|
|
NM_001042413.2(GLIS3):c.2598G>A (p.Met866Ile)
|
|
|
NM_001042413.2(GLIS3):c.2617G>A (p.Val873Ile)
|
|
|
NM_001042413.2(GLIS3):c.2636C>G (p.Ser879Trp)
|
rs200265407
|
|
NM_001042413.2(GLIS3):c.2638A>G (p.Thr880Ala)
|
|
|
NM_001042413.2(GLIS3):c.263G>A (p.Arg88Lys)
|
|
|
NM_001042413.2(GLIS3):c.2657-17C>T
|
rs746005781
|
|
NM_001042413.2(GLIS3):c.2672C>A (p.Ser891Ter)
|
|
|
NM_001042413.2(GLIS3):c.2694G>T (p.Gly898=)
|
|
|
NM_001042413.2(GLIS3):c.2705G>T (p.Arg902Leu)
|
|
|
NM_001042413.2(GLIS3):c.2710G>C (p.Gly904Arg)
|
rs150310830
|
|
NM_001042413.2(GLIS3):c.2721T>A (p.Asp907Glu)
|
|
|
NM_001042413.2(GLIS3):c.2746_2755delinsC (p.Val916_Cys919delinsArg)
|
|
|
NM_001042413.2(GLIS3):c.2752C>G (p.Arg918Gly)
|
|
|
NM_001042413.2(GLIS3):c.2787A>C (p.Glu929Asp)
|
|
|
NM_001042413.2(GLIS3):c.285G>A (p.Lys95=)
|
|
|
NM_001042413.2(GLIS3):c.2T>C (p.Met1Thr)
|
|
|
NM_001042413.2(GLIS3):c.304C>T (p.Gln102Ter)
|
|
|
NM_001042413.2(GLIS3):c.317T>C (p.Met106Thr)
|
|
|
NM_001042413.2(GLIS3):c.322G>C (p.Gly108Arg)
|
|
|
NM_001042413.2(GLIS3):c.32A>T (p.His11Leu)
|
|
|
NM_001042413.2(GLIS3):c.331A>G (p.Thr111Ala)
|
|
|
NM_001042413.2(GLIS3):c.362G>A (p.Ser121Asn)
|
|
|
NM_001042413.2(GLIS3):c.381T>A (p.Pro127=)
|
|
|
NM_001042413.2(GLIS3):c.388G>A (p.Gly130Arg)
|
rs777378754
|
|
NM_001042413.2(GLIS3):c.38C>T (p.Thr13Ile)
|
|
|
NM_001042413.2(GLIS3):c.398G>C (p.Gly133Ala)
|
|
|
NM_001042413.2(GLIS3):c.3G>A (p.Met1Ile)
|
rs1198183960
|
|
NM_001042413.2(GLIS3):c.41C>G (p.Ser14Trp)
|
rs765421766
|
|
NM_001042413.2(GLIS3):c.448G>A (p.Val150Met)
|
|
|
NM_001042413.2(GLIS3):c.455C>T (p.Thr152Ile)
|
|
|
NM_001042413.2(GLIS3):c.472G>T (p.Val158Phe)
|
|
|
NM_001042413.2(GLIS3):c.481C>A (p.Leu161Met)
|
|
|
NM_001042413.2(GLIS3):c.488T>A (p.Leu163His)
|
|
|
NM_001042413.2(GLIS3):c.49C>G (p.Pro17Ala)
|
|
|
NM_001042413.2(GLIS3):c.49C>T (p.Pro17Ser)
|
|
|
NM_001042413.2(GLIS3):c.508C>G (p.Gln170Glu)
|
|
|
NM_001042413.2(GLIS3):c.527A>G (p.Asn176Ser)
|
|
|
NM_001042413.2(GLIS3):c.532A>T (p.Ile178Phe)
|
|
|
NM_001042413.2(GLIS3):c.556A>G (p.Met186Val)
|
|
|
NM_001042413.2(GLIS3):c.565del (p.Ala189fs)
|
|
|
NM_001042413.2(GLIS3):c.571_572dup (p.Leu191_Asn192insTer)
|
rs1586744173
|
|
NM_001042413.2(GLIS3):c.599C>G (p.Ser200Cys)
|
|
|
NM_001042413.2(GLIS3):c.62G>A (p.Arg21Lys)
|
|
|
NM_001042413.2(GLIS3):c.632C>G (p.Thr211Ser)
|
|
|
NM_001042413.2(GLIS3):c.650G>C (p.Ser217Thr)
|
|
|
NM_001042413.2(GLIS3):c.656C>T (p.Ser219Leu)
|
|
|
NM_001042413.2(GLIS3):c.690C>G (p.Gly230=)
|
|
|
NM_001042413.2(GLIS3):c.697G>A (p.Ala233Thr)
|
|
|
NM_001042413.2(GLIS3):c.700C>T (p.Leu234Phe)
|
|
|
NM_001042413.2(GLIS3):c.716A>G (p.Asn239Ser)
|
|
|
NM_001042413.2(GLIS3):c.759C>T (p.Ser253=)
|
|
|
NM_001042413.2(GLIS3):c.764C>A (p.Pro255His)
|
|
|
NM_001042413.2(GLIS3):c.773C>G (p.Thr258Arg)
|
|
|
NM_001042413.2(GLIS3):c.827C>T (p.Thr276Met)
|
|
|
NM_001042413.2(GLIS3):c.830A>C (p.Glu277Ala)
|
|
|
NM_001042413.2(GLIS3):c.865T>A (p.Ser289Thr)
|
|
|
NM_001042413.2(GLIS3):c.886G>A (p.Ala296Thr)
|
|
|
NM_001042413.2(GLIS3):c.8del (p.Gly3fs)
|
|
|
NM_001042413.2(GLIS3):c.910T>C (p.Ser304Pro)
|
|
|
NM_001042413.2(GLIS3):c.94C>G (p.Arg32Gly)
|
|
|
NM_001042413.2(GLIS3):c.95G>C (p.Arg32Pro)
|
rs375834888
|
|
NM_001042413.2(GLIS3):c.974C>A (p.Thr325Lys)
|
|
|
NM_001042413.2(GLIS3):c.974C>T (p.Thr325Met)
|
|
|
NM_001042413.2(GLIS3):c.986C>T (p.Ala329Val)
|
|
|
NM_001042413.2(GLIS3):c.98C>A (p.Ala33Asp)
|
|
|
NM_001042413.2(GLIS3):c.997G>A (p.Gly333Arg)
|
|
|
NM_001042413.2(GLIS3):c.9A>T (p.Gly3=)
|
|
|
NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu)
|
rs115887120
|
|
NM_001366110.1(PAX4):c.380T>A (p.Val127Asp)
|
|
|
NM_001715.3(BLK):c.269+13G>C
|
rs144839649
|
|
NM_001715.3(BLK):c.39G>A (p.Lys13=)
|
rs142129056
|
|
NM_001715.3(BLK):c.437G>C (p.Gly146Ala)
|
|
|
NM_001715.3(BLK):c.591G>T (p.Ser197=)
|
rs140834602
|
|
NM_001807.6(CEL):c.109A>C (p.Asn37His)
|
|
|
NM_001807.6(CEL):c.110A>G (p.Asn37Ser)
|
|
|
NM_001807.6(CEL):c.1294A>G (p.Lys432Glu)
|
|
|
NM_001807.6(CEL):c.1296G>T (p.Lys432Asn)
|
|
|
NM_001807.6(CEL):c.1327C>T (p.Arg443Trp)
|
|
|
NM_001807.6(CEL):c.1341C>A (p.Tyr447Ter)
|
|
|
NM_001807.6(CEL):c.1347A>T (p.Lys449Asn)
|
|
|
NM_001807.6(CEL):c.1353G>A (p.Val451=)
|
|
|
NM_001807.6(CEL):c.1360G>A (p.Asp454Asn)
|
|
|
NM_001807.6(CEL):c.1398del (p.Phe467fs)
|
|
|
NM_001807.6(CEL):c.1412C>T (p.Thr471Met)
|
|
|
NM_001807.6(CEL):c.1421G>A (p.Arg474Gln)
|
|
|
NM_001807.6(CEL):c.1427A>C (p.Gln476Pro)
|
|
|
NM_001807.6(CEL):c.1447G>A (p.Ala483Thr)
|
|
|
NM_001807.6(CEL):c.1456G>A (p.Ala486Thr)
|
|
|
NM_001807.6(CEL):c.1468A>C (p.Asn490His)
|
|
|
NM_001807.6(CEL):c.1510G>A (p.Val504Met)
|
|
|
NM_001807.6(CEL):c.1537A>G (p.Thr513Ala)
|
|
|
NM_001807.6(CEL):c.1538C>T (p.Thr513Met)
|
|
|
NM_001807.6(CEL):c.1539G>A (p.Thr513=)
|
|
|
NM_001807.6(CEL):c.1564A>G (p.Thr522Ala)
|
|
|
NM_001807.6(CEL):c.1624T>C (p.Trp542Arg)
|
|
|
NM_001807.6(CEL):c.1643C>A (p.Ala548Glu)
|
|
|
NM_001807.6(CEL):c.1659C>G (p.Thr553=)
|
rs78256304
|
|
NM_001807.6(CEL):c.166G>A (p.Ala56Thr)
|
|
|
NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer)
|
rs2119070291
|
|
NM_001807.6(CEL):c.1674_1706del (p.557ATPVPPTGDSE[1])
|
|
|
NM_001807.6(CEL):c.1676C>T (p.Pro559Leu)
|
|
|
NM_001807.6(CEL):c.1700_1738delinsGGGCCC (p.Glu567_Ala580delinsGlyAlaPro)
|
|
|
NM_001807.6(CEL):c.1705_1737del (p.Thr569_Thr579del)
|
|
|
NM_001807.6(CEL):c.1723G>C (p.Gly575Arg)
|
|
|
NM_001807.6(CEL):c.1727A>G (p.Asp576Gly)
|
|
|
NM_001807.6(CEL):c.1759G>A (p.Asp587Asn)
|
|
|
NM_001807.6(CEL):c.1771C>T (p.Pro591Ser)
|
|
|
NM_001807.6(CEL):c.2080C>T (p.Pro694Ser)
|
|
|
NM_001807.6(CEL):c.209G>T (p.Gly70Val)
|
|
|
NM_001807.6(CEL):c.2137C>G (p.Pro713Ala)
|
|
|
NM_001807.6(CEL):c.2139_2171del (p.Gly721_Ser731del)
|
|
|
NM_001807.6(CEL):c.2139dup (p.Val714fs)
|
|
|
NM_001807.6(CEL):c.2159C>T (p.Ser720Phe)
|
|
|
NM_001807.6(CEL):c.2161_2226del (p.Gly721_Ser742del)
|
|
|
NM_001807.6(CEL):c.2165C>T (p.Ala722Val)
|
|
|
NM_001807.6(CEL):c.2184_2216del (p.Gly729_Thr739del)
|
|
|
NM_001807.6(CEL):c.2184_2216dup (p.Thr739_Asp740insGlyAspSerGluAlaAlaProValProProThr)
|
|
|
NM_001807.6(CEL):c.2198_2230del (p.Ala733_Lys743del)
|
|
|
NM_001807.6(CEL):c.262A>G (p.Thr88Ala)
|
|
|
NM_001807.6(CEL):c.265A>G (p.Ile89Val)
|
|
|
NM_001807.6(CEL):c.289G>T (p.Asp97Tyr)
|
|
|
NM_001807.6(CEL):c.302T>C (p.Leu101Pro)
|
|
|
NM_001807.6(CEL):c.313A>G (p.Ile105Val)
|
|
|
NM_001807.6(CEL):c.353_358delinsGGCCCA (p.Leu118_Val120delinsArgProIle)
|
|
|
NM_001807.6(CEL):c.374A>G (p.Tyr125Cys)
|
|
|
NM_001807.6(CEL):c.427T>C (p.Tyr143His)
|
|
|
NM_001807.6(CEL):c.442G>A (p.Glu148Lys)
|
|
|
NM_001807.6(CEL):c.457C>T (p.Arg153Cys)
|
|
|
NM_001807.6(CEL):c.466_479del (p.Val156fs)
|
rs572853045
|
|
NM_001807.6(CEL):c.472G>A (p.Val158Met)
|
|
|
NM_001807.6(CEL):c.481T>C (p.Phe161Leu)
|
|
|
NM_001807.6(CEL):c.485A>G (p.Asn162Ser)
|
|
|
NM_001807.6(CEL):c.490C>T (p.Arg164Cys)
|
|
|
NM_001807.6(CEL):c.500C>T (p.Pro167Leu)
|
|
|
NM_001807.6(CEL):c.537A>G (p.Pro179=)
|
|
|
NM_001807.6(CEL):c.538+5G>A
|
|
|
NM_001807.6(CEL):c.538+5G>C
|
|
|
NM_001807.6(CEL):c.553C>T (p.Arg185Trp)
|
|
|
NM_001807.6(CEL):c.610dup (p.Asp204fs)
|
|
|
NM_001807.6(CEL):c.656G>C (p.Ser219Thr)
|
|
|
NM_001807.6(CEL):c.669+6G>A
|
|
|
NM_001807.6(CEL):c.67-3C>A
|
|
|
NM_001807.6(CEL):c.670-1G>C
|
|
|
NM_001807.6(CEL):c.678C>T (p.Ser226=)
|
|
|
NM_001807.6(CEL):c.718A>G (p.Ser240Gly)
|
|
|
NM_001807.6(CEL):c.721G>A (p.Gly241Ser)
|
|
|
NM_001807.6(CEL):c.724G>A (p.Val242Met)
|
|
|
NM_001807.6(CEL):c.728C>T (p.Ala243Val)
|
|
|
NM_001807.6(CEL):c.73G>A (p.Ala25Thr)
|
|
|
NM_001807.6(CEL):c.741G>T (p.Trp247Cys)
|
|
|
NM_001807.6(CEL):c.758C>T (p.Pro253Leu)
|
|
|
NM_001807.6(CEL):c.779T>A (p.Val260Glu)
|
|
|
NM_001807.6(CEL):c.814G>A (p.Ala272Thr)
|
|
|
NM_001807.6(CEL):c.828G>A (p.Gln276=)
|
|
|
NM_001807.6(CEL):c.847C>G (p.Pro283Ala)
|
|
|
NM_001807.6(CEL):c.850C>G (p.Arg284Gly)
|
rs369868891
|
|
NM_001807.6(CEL):c.850C>T (p.Arg284Ter)
|
|
|
NM_001807.6(CEL):c.866C>T (p.Ala289Val)
|
|
|
NM_001807.6(CEL):c.869A>G (p.Tyr290Cys)
|
|
|
NM_001807.6(CEL):c.874G>T (p.Val292Leu)
|
|
|
NM_001807.6(CEL):c.883G>T (p.Ala295Ser)
|
|
|
NM_001807.6(CEL):c.893A>G (p.Glu298Gly)
|
|
|
NM_001807.6(CEL):c.99G>C (p.Val33=)
|
rs199971842
|
|
NM_002224.4(ITPR3):c.5903A>T (p.Asp1968Val)
|
|
|
NM_002500.5(NEUROD1):c.*1A>G
|
|
|
NM_002500.5(NEUROD1):c.1019C>T (p.Ser340Leu)
|
|
|
NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val)
|
rs774325551
|
|
NM_002500.5(NEUROD1):c.112A>G (p.Lys38Glu)
|
rs1013787986
|
|
NM_002500.5(NEUROD1):c.113A>G (p.Lys38Arg)
|
|
|
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=)
|
rs116321775
|
|
NM_002500.5(NEUROD1):c.136A>G (p.Met46Val)
|
|
|
NM_002500.5(NEUROD1):c.175G>C (p.Glu59Gln)
|
rs553756272
|
|
NM_002500.5(NEUROD1):c.189T>C (p.Asp63=)
|
rs2105595687
|
|
NM_002500.5(NEUROD1):c.19G>A (p.Glu7Lys)
|
|
|
NM_002500.5(NEUROD1):c.205G>A (p.Glu69Lys)
|
|
|
NM_002500.5(NEUROD1):c.222GGA[1] (p.Glu75del)
|
rs1190828671
|
|
NM_002500.5(NEUROD1):c.254G>A (p.Gly85Asp)
|
|
|
NM_002500.5(NEUROD1):c.260A>G (p.Lys87Arg)
|
rs758515206
|
|
NM_002500.5(NEUROD1):c.278A>C (p.Lys93Thr)
|
|
|
NM_002500.5(NEUROD1):c.284G>A (p.Arg95His)
|
rs1559135426
|
|
NM_002500.5(NEUROD1):c.29T>C (p.Leu10Pro)
|
|
|
NM_002500.5(NEUROD1):c.301T>A (p.Leu101Met)
|
|
|
NM_002500.5(NEUROD1):c.310A>C (p.Met104Leu)
|
|
|
NM_002500.5(NEUROD1):c.36C>T (p.Gly12=)
|
|
|
NM_002500.5(NEUROD1):c.425C>G (p.Thr142Ser)
|
|
|
NM_002500.5(NEUROD1):c.451T>C (p.Trp151Arg)
|
|
|
NM_002500.5(NEUROD1):c.487C>T (p.Pro163Ser)
|
rs1225264254
|
|
NM_002500.5(NEUROD1):c.542C>T (p.Thr181Ile)
|
|
|
NM_002500.5(NEUROD1):c.554C>T (p.Ala185Val)
|
|
|
NM_002500.5(NEUROD1):c.603G>C (p.Gln201His)
|
|
|
NM_002500.5(NEUROD1):c.614C>A (p.Pro205His)
|
|
|
NM_002500.5(NEUROD1):c.616C>A (p.His206Asn)
|
rs201174472
|
|
NM_002500.5(NEUROD1):c.616C>G (p.His206Asp)
|
rs201174472
|
|
NM_002500.5(NEUROD1):c.61A>G (p.Ser21Gly)
|
|
|
NM_002500.5(NEUROD1):c.620T>C (p.Leu207Pro)
|
|
|
NM_002500.5(NEUROD1):c.631A>G (p.Ser211Gly)
|
|
|
NM_002500.5(NEUROD1):c.714T>G (p.His238Gln)
|
|
|
NM_002500.5(NEUROD1):c.715G>A (p.Val239Ile)
|
|
|
NM_002500.5(NEUROD1):c.722A>C (p.His241Pro)
|
|
|
NM_002500.5(NEUROD1):c.733C>A (p.Pro245Thr)
|
|
|
NM_002500.5(NEUROD1):c.790T>C (p.Cys264Arg)
|
|
|
NM_002500.5(NEUROD1):c.794C>G (p.Thr265Ser)
|
rs1029071008
|
|
NM_002500.5(NEUROD1):c.827C>T (p.Pro276Leu)
|
|
|
NM_002500.5(NEUROD1):c.93C>A (p.Asp31Glu)
|
|
|
NM_002500.5(NEUROD1):c.94G>A (p.Glu32Lys)
|
rs773755753
|
|
NM_002500.5(NEUROD1):c.950T>C (p.Ile317Thr)
|
|
|
NM_002591.4(PCK1):c.1674C>T (p.Ile558=)
|
rs115841045
|
|
NM_003051.4(SLC16A1):c.362-58TATT[8]
|
rs149491709
|
|
NM_003597.5(KLF11):c.1037G>T (p.Gly346Val)
|
rs964899969
|
|
NM_003597.5(KLF11):c.1050G>A (p.Pro350=)
|
rs145193520
|
|
NM_003597.5(KLF11):c.1117C>G (p.Pro373Ala)
|
|
|
NM_003597.5(KLF11):c.1120G>A (p.Val374Met)
|
|
|
NM_003597.5(KLF11):c.42+18C>G
|
rs1476684022
|
|
NM_003597.5(KLF11):c.870C>T (p.Ile290=)
|
rs149235463
|
|
NM_004563.4(PCK2):c.1469-3dup
|
rs61497654
|
|
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
|
|
|
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys)
|
rs56275071
|
|
NM_005327.7(HADH):c.132+1G>A
|
|
|
NM_005327.7(HADH):c.262-2A>G
|
|
|
NM_006005.3(WFS1):c.1002C>T (p.Ser334=)
|
|
|
NM_006005.3(WFS1):c.1014C>A (p.Ile338=)
|
|
|
NM_006005.3(WFS1):c.1021_1032del (p.Phe341_Phe344del)
|
|
|
NM_006005.3(WFS1):c.1027_1028delinsGC (p.Phe343Ala)
|
|
|
NM_006005.3(WFS1):c.1038G>A (p.Pro346=)
|
rs143886476
|
|
NM_006005.3(WFS1):c.1042G>A (p.Val348Ile)
|
|
|
NM_006005.3(WFS1):c.1045A>G (p.Ile349Val)
|
|
|
NM_006005.3(WFS1):c.1049T>G (p.Phe350Cys)
|
|
|
NM_006005.3(WFS1):c.1076T>A (p.Ile359Asn)
|
rs2109125284
|
|
NM_006005.3(WFS1):c.1082C>G (p.Thr361Ser)
|
rs781575919
|
|
NM_006005.3(WFS1):c.1088A>G (p.Lys363Arg)
|
|
|
NM_006005.3(WFS1):c.113G>A (p.Ser38Asn)
|
rs775342800
|
|
NM_006005.3(WFS1):c.1153G>C (p.Glu385Gln)
|
|
|
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu)
|
rs201282601
|
|
NM_006005.3(WFS1):c.1171G>A (p.Glu391Lys)
|
|
|
NM_006005.3(WFS1):c.1174C>G (p.Gln392Glu)
|
|
|
NM_006005.3(WFS1):c.1190T>G (p.Phe397Cys)
|
|
|
NM_006005.3(WFS1):c.11A>G (p.Asn4Ser)
|
|
|
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala)
|
rs756869880
|
|
NM_006005.3(WFS1):c.122C>A (p.Pro41His)
|
|
|
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs)
|
rs760337383
|
|
NM_006005.3(WFS1):c.1232C>T (p.Ser411Phe)
|
rs961779757
|
|
NM_006005.3(WFS1):c.1233T>G (p.Ser411=)
|
rs760897070
|
|
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs)
|
rs763677869
|
|
NM_006005.3(WFS1):c.1243G>A (p.Val415Ile)
|
rs749886570
|
|
NM_006005.3(WFS1):c.1243G>C (p.Val415Leu)
|
rs749886570
|
|
NM_006005.3(WFS1):c.1243_1245del (p.Val415del)
|
rs863224265
|
|
NM_006005.3(WFS1):c.1249T>A (p.Phe417Ile)
|
|
|
NM_006005.3(WFS1):c.1264G>C (p.Ala422Pro)
|
|
|
NM_006005.3(WFS1):c.1309G>T (p.Gly437Cys)
|
rs147974629
|
|
NM_006005.3(WFS1):c.1325C>T (p.Thr442Ile)
|
|
|
NM_006005.3(WFS1):c.1348C>T (p.His450Tyr)
|
|
|
NM_006005.3(WFS1):c.1355_1370del (p.Glu452fs)
|
|
|
NM_006005.3(WFS1):c.1357C>G (p.Pro453Ala)
|
|
|
NM_006005.3(WFS1):c.1357C>T (p.Pro453Ser)
|
|
|
NM_006005.3(WFS1):c.1359C>T (p.Pro453=)
|
|
|
NM_006005.3(WFS1):c.1364C>T (p.Thr455Met)
|
rs139361521
|
|
NM_006005.3(WFS1):c.1372G>A (p.Ala458Thr)
|
|
|
NM_006005.3(WFS1):c.1385A>C (p.Glu462Ala)
|
|
|
NM_006005.3(WFS1):c.1399C>G (p.Leu467Val)
|
|
|
NM_006005.3(WFS1):c.1405T>A (p.Ser469Thr)
|
|
|
NM_006005.3(WFS1):c.1420A>C (p.Met474Leu)
|
|
|
NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln)
|
rs2109125928
|
|
NM_006005.3(WFS1):c.1451T>C (p.Leu484Pro)
|
|
|
NM_006005.3(WFS1):c.1460C>G (p.Thr487Ser)
|
rs142269405
|
|
NM_006005.3(WFS1):c.1476T>C (p.Pro492=)
|
rs1730893286
|
|
NM_006005.3(WFS1):c.147CCCTGG[3] (p.Gly53_Val54insProGly)
|
|
|
NM_006005.3(WFS1):c.1500C>G (p.Asn500Lys)
|
|
|
NM_006005.3(WFS1):c.1500_1501insAGCGTCCCGTGCCTGTCGGCCACCTGGTCGTCCTCAAT (p.Val501fs)
|
|
|
NM_006005.3(WFS1):c.1508T>G (p.Val503Gly)
|
|
|
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del)
|
rs781262017
|
|
NM_006005.3(WFS1):c.1526T>G (p.Val509Gly)
|
|
|
NM_006005.3(WFS1):c.1538_1539dup (p.Leu514fs)
|
|
|
NM_006005.3(WFS1):c.1540C>G (p.Leu514Val)
|
|
|
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del)
|
rs777904670
|
|
NM_006005.3(WFS1):c.1549del (p.Arg517fs)
|
rs2109126109
|
|
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)
|
rs111773340
|
|
NM_006005.3(WFS1):c.154C>G (p.Pro52Ala)
|
|
|
NM_006005.3(WFS1):c.154C>T (p.Pro52Ser)
|
rs111773340
|
|
NM_006005.3(WFS1):c.1555G>A (p.Ala519Thr)
|
|
|
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter)
|
rs377544135
|
|
NM_006005.3(WFS1):c.1580C>G (p.Thr527Ser)
|
|
|
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer)
|
rs1560419631
|
|
NM_006005.3(WFS1):c.1628T>G (p.Leu543Arg)
|
|
|
NM_006005.3(WFS1):c.1642C>G (p.Leu548Val)
|
|
|
NM_006005.3(WFS1):c.1645C>A (p.Leu549Met)
|
rs1801211
|
|
NM_006005.3(WFS1):c.1646T>C (p.Leu549Pro)
|
|
|
NM_006005.3(WFS1):c.1692C>G (p.Phe564Leu)
|
rs140643985
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
NM_006005.3(WFS1):c.1699_1704del (p.565LF[1])
|
|
|
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr)
|
rs372783392
|
|
NM_006005.3(WFS1):c.169G>T (p.Ala57Ser)
|
rs372783392
|
|
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr)
|
rs1057524887
|
|
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu)
|
rs140773453
|
|
NM_006005.3(WFS1):c.1744G>A (p.Val582Met)
|
rs377677092
|
|
NM_006005.3(WFS1):c.1744G>T (p.Val582Leu)
|
|
|
NM_006005.3(WFS1):c.1756G>A (p.Ala586Thr)
|
|
|
NM_006005.3(WFS1):c.1759C>G (p.Arg587Gly)
|
|
|
NM_006005.3(WFS1):c.1760G>T (p.Arg587Leu)
|
|
|
NM_006005.3(WFS1):c.1764G>T (p.Trp588Cys)
|
rs763559442
|
|
NM_006005.3(WFS1):c.1777G>A (p.Glu593Lys)
|
|
|
NM_006005.3(WFS1):c.1778A>C (p.Glu593Ala)
|
rs375440473
|
|
NM_006005.3(WFS1):c.1778A>G (p.Glu593Gly)
|
|
|
NM_006005.3(WFS1):c.1789A>G (p.Ile597Val)
|
|
|
NM_006005.3(WFS1):c.1797C>A (p.Val599=)
|
rs71524361
|
|
NM_006005.3(WFS1):c.1806G>A (p.Ala602=)
|
rs142295878
|
|
NM_006005.3(WFS1):c.1810T>C (p.Cys604Arg)
|
|
|
NM_006005.3(WFS1):c.1819C>G (p.Pro607Ala)
|
rs780471127
|
|
NM_006005.3(WFS1):c.181G>A (p.Ala61Thr)
|
|
|
NM_006005.3(WFS1):c.1828T>G (p.Leu610Val)
|
|
|
NM_006005.3(WFS1):c.1831_1832delinsGA (p.Arg611Asp)
|
|
|
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr)
|
rs863224266
|
|
NM_006005.3(WFS1):c.1846dup (p.Ala616fs)
|
|
|
NM_006005.3(WFS1):c.1850G>C (p.Ser617Thr)
|
|
|
NM_006005.3(WFS1):c.1852T>C (p.Phe618Leu)
|
|
|
NM_006005.3(WFS1):c.1858G>C (p.Val620Leu)
|
|
|
NM_006005.3(WFS1):c.1865G>T (p.Gly622Val)
|
|
|
NM_006005.3(WFS1):c.1885C>G (p.Arg629Gly)
|
|
|
NM_006005.3(WFS1):c.1886G>T (p.Arg629Leu)
|
|
|
NM_006005.3(WFS1):c.1894A>G (p.Met632Val)
|
|
|
NM_006005.3(WFS1):c.1901A>G (p.Lys634Arg)
|
|
|
NM_006005.3(WFS1):c.1907T>C (p.Ile636Thr)
|
|
|
NM_006005.3(WFS1):c.1922C>T (p.Thr641Met)
|
rs376626985
|
|
NM_006005.3(WFS1):c.1928T>C (p.Ile643Thr)
|
|
|
NM_006005.3(WFS1):c.1930G>A (p.Val644Met)
|
rs141570700
|
|
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu)
|
rs150465110
|
|
NM_006005.3(WFS1):c.1954T>C (p.Tyr652His)
|
|
|
NM_006005.3(WFS1):c.1961C>T (p.Ser654Leu)
|
|
|
NM_006005.3(WFS1):c.1987A>G (p.Thr663Ala)
|
|
|
NM_006005.3(WFS1):c.1990_1991del (p.Leu664fs)
|
|
|
NM_006005.3(WFS1):c.2009G>A (p.Gly670Asp)
|
|
|
NM_006005.3(WFS1):c.2027G>A (p.Arg676His)
|
rs143055296
|
|
NM_006005.3(WFS1):c.2029G>T (p.Ala677Ser)
|
rs757027394
|
|
NM_006005.3(WFS1):c.2057C>T (p.Thr686Ile)
|
|
|
NM_006005.3(WFS1):c.2061G>C (p.Gln687His)
|
rs760938537
|
|
NM_006005.3(WFS1):c.2069G>A (p.Cys690Tyr)
|
|
|
NM_006005.3(WFS1):c.2082G>C (p.Glu694Asp)
|
rs751270928
|
|
NM_006005.3(WFS1):c.2083G>A (p.Gly695Ser)
|
|
|
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val)
|
rs28937891
|
|
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val)
|
rs1805070
|
|
NM_006005.3(WFS1):c.2166G>A (p.Met722Ile)
|
rs758534824
|
|
NM_006005.3(WFS1):c.2175C>A (p.Phe725Leu)
|
|
|
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp)
|
rs1560421124
|
|
NM_006005.3(WFS1):c.2222C>T (p.Ala741Val)
|
rs770396410
|
|
NM_006005.3(WFS1):c.2234G>C (p.Gly745Ala)
|
|
|
NM_006005.3(WFS1):c.2251G>A (p.Glu751Lys)
|
rs147465252
|
|
NM_006005.3(WFS1):c.2251G>C (p.Glu751Gln)
|
rs147465252
|
|
NM_006005.3(WFS1):c.2254G>A (p.Glu752Lys)
|
|
|
NM_006005.3(WFS1):c.2259G>C (p.Glu753Asp)
|
|
|
NM_006005.3(WFS1):c.2260C>T (p.Leu754Phe)
|
|
|
NM_006005.3(WFS1):c.2282C>T (p.Ala761Val)
|
rs71526459
|
|
NM_006005.3(WFS1):c.2287C>T (p.His763Tyr)
|
|
|
NM_006005.3(WFS1):c.2311G>A (p.Asp771Asn)
|
|
|
NM_006005.3(WFS1):c.2314_2315insT (p.Arg772fs)
|
|
|
NM_006005.3(WFS1):c.2315G>A (p.Arg772His)
|
rs758646445
|
|
NM_006005.3(WFS1):c.231C>G (p.Thr77=)
|
|
|
NM_006005.3(WFS1):c.2321dup (p.Phe775fs)
|
|
|
NM_006005.3(WFS1):c.2335G>T (p.Val779Leu)
|
|
|
NM_006005.3(WFS1):c.2336T>G (p.Val779Gly)
|
|
|
NM_006005.3(WFS1):c.2372G>A (p.Arg791His)
|
rs775659531
|
|
NM_006005.3(WFS1):c.2382GGA[1] (p.Glu795del)
|
|
|
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp)
|
rs373310972
|
|
NM_006005.3(WFS1):c.2395A>C (p.Thr799Pro)
|
|
|
NM_006005.3(WFS1):c.2395A>T (p.Thr799Ser)
|
|
|
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met)
|
rs201102144
|
|
NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg)
|
rs557048986
|
|
NM_006005.3(WFS1):c.2432A>T (p.Lys811Met)
|
|
|
NM_006005.3(WFS1):c.2446A>C (p.Ser816Arg)
|
|
|
NM_006005.3(WFS1):c.2455_2502del (p.Gln819_Gly834del)
|
|
|
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp)
|
rs764842865
|
|
NM_006005.3(WFS1):c.2484C>G (p.Ile828Met)
|
rs779957380
|
|
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)
|
rs104893883
|
|
NM_006005.3(WFS1):c.2528A>G (p.Lys843Arg)
|
|
|
NM_006005.3(WFS1):c.2534T>C (p.Ile845Thr)
|
|
|
NM_006005.3(WFS1):c.2536A>G (p.Ser846Gly)
|
|
|
NM_006005.3(WFS1):c.2539T>C (p.Cys847Arg)
|
|
|
NM_006005.3(WFS1):c.2545A>C (p.Asn849His)
|
|
|
NM_006005.3(WFS1):c.2548T>G (p.Cys850Gly)
|
rs966123985
|
|
NM_006005.3(WFS1):c.2564C>T (p.Ser855Leu)
|
|
|
NM_006005.3(WFS1):c.2565A>T (p.Ser855=)
|
rs1046316
|
|
NM_006005.3(WFS1):c.2569A>C (p.Thr857Pro)
|
|
|
NM_006005.3(WFS1):c.2580C>A (p.His860Gln)
|
rs754802246
|
|
NM_006005.3(WFS1):c.2595C>A (p.His865Gln)
|
rs142469572
|
|
NM_006005.3(WFS1):c.2596G>T (p.Asp866Tyr)
|
rs3821945
|
|
NM_006005.3(WFS1):c.25G>C (p.Gly9Arg)
|
|
|
NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro)
|
rs56393026
|
|
NM_006005.3(WFS1):c.2606G>A (p.Ser869Asn)
|
rs759360634
|
|
NM_006005.3(WFS1):c.2608A>C (p.Thr870Pro)
|
|
|
NM_006005.3(WFS1):c.2611G>C (p.Val871Leu)
|
rs71532874
|
|
NM_006005.3(WFS1):c.2638G>C (p.Asp880His)
|
rs776324301
|
|
NM_006005.3(WFS1):c.2640CTT[1] (p.Phe884del)
|
rs535021228
|
|
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs)
|
rs863224268
|
|
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)
|
rs1560422383
|
|
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)
|
rs797045076
|
|
NM_006005.3(WFS1):c.316-13G>A
|
|
|
NM_006005.3(WFS1):c.316-14T>C
|
rs749922151
|
|
NM_006005.3(WFS1):c.335A>G (p.Gln112Arg)
|
|
|
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter)
|
rs764993824
|
|
NM_006005.3(WFS1):c.413G>A (p.Arg138His)
|
|
|
NM_006005.3(WFS1):c.439C>T (p.Arg147Trp)
|
|
|
NM_006005.3(WFS1):c.510C>T (p.Thr170=)
|
rs151277039
|
|
NM_006005.3(WFS1):c.547A>G (p.Met183Val)
|
|
|
NM_006005.3(WFS1):c.559C>T (p.Leu187Phe)
|
|
|
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del)
|
rs752461187
|
|
NM_006005.3(WFS1):c.578dup (p.Gln194fs)
|
rs779272128
|
|
NM_006005.3(WFS1):c.618G>C (p.Gln206His)
|
|
|
NM_006005.3(WFS1):c.623A>C (p.Asn208Thr)
|
|
|
NM_006005.3(WFS1):c.623A>G (p.Asn208Ser)
|
rs776488772
|
|
NM_006005.3(WFS1):c.643C>T (p.Gln215Ter)
|
|
|
NM_006005.3(WFS1):c.662A>C (p.Lys221Thr)
|
|
|
NM_006005.3(WFS1):c.682_684delinsTGG (p.Arg228Trp)
|
|
|
NM_006005.3(WFS1):c.683_684delinsAG (p.Arg228Gln)
|
rs2109117184
|
|
NM_006005.3(WFS1):c.708C>T (p.Ser236=)
|
|
|
NM_006005.3(WFS1):c.70C>T (p.Arg24Cys)
|
rs756667462
|
|
NM_006005.3(WFS1):c.712+6T>A
|
|
|
NM_006005.3(WFS1):c.713-19G>A
|
rs776845938
|
|
NM_006005.3(WFS1):c.724A>C (p.Ile242Leu)
|
|
|
NM_006005.3(WFS1):c.758A>G (p.Lys253Arg)
|
|
|
NM_006005.3(WFS1):c.791T>C (p.Phe264Ser)
|
|
|
NM_006005.3(WFS1):c.803A>G (p.Asp268Gly)
|
|
|
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)
|
rs142428158
|
|
NM_006005.3(WFS1):c.81C>T (p.Leu27=)
|
rs777168956
|
|
NM_006005.3(WFS1):c.824C>T (p.Ala275Val)
|
|
|
NM_006005.3(WFS1):c.853C>T (p.Arg285Cys)
|
|
|
NM_006005.3(WFS1):c.862-18G>A
|
rs763167503
|
|
NM_006005.3(WFS1):c.876C>G (p.Pro292=)
|
rs1159812254
|
|
NM_006005.3(WFS1):c.880C>G (p.His294Asp)
|
|
|
NM_006005.3(WFS1):c.882C>A (p.His294Gln)
|
|
|
NM_006005.3(WFS1):c.887T>C (p.Ile296Thr)
|
|
|
NM_006005.3(WFS1):c.889A>G (p.Met297Val)
|
rs1553878254
|
|
NM_006005.3(WFS1):c.903G>C (p.Glu301Asp)
|
|
|
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer)
|
rs863224264
|
|
NM_006005.3(WFS1):c.929C>T (p.Ala310Val)
|
|
|
NM_006005.3(WFS1):c.934A>G (p.Met312Val)
|
rs544450962
|
|
NM_006005.3(WFS1):c.955A>T (p.Ile319Phe)
|
rs914996283
|
|
NM_006005.3(WFS1):c.970A>G (p.Ile324Val)
|
|
|
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile)
|
rs71537678
|
|
NM_006005.3(WFS1):c.997G>C (p.Val333Leu)
|
|
|
NM_006005.3(WFS1):c.9dup (p.Asn4fs)
|
rs2109107823
|
|
NM_006208.3(ENPP1):c.1025+14A>T
|
|
|
NM_006208.3(ENPP1):c.1026-15T>A
|
|
|
NM_006208.3(ENPP1):c.102C>G (p.Ser34Arg)
|
|
|
NM_006208.3(ENPP1):c.1038T>G (p.Phe346Leu)
|
|
|
NM_006208.3(ENPP1):c.103C>T (p.His35Tyr)
|
|
|
NM_006208.3(ENPP1):c.1120G>A (p.Glu374Lys)
|
|
|
NM_006208.3(ENPP1):c.1133C>T (p.Ser378Leu)
|
|
|
NM_006208.3(ENPP1):c.118C>A (p.Pro40Thr)
|
|
|
NM_006208.3(ENPP1):c.124del (p.Asp42fs)
|
|
|
NM_006208.3(ENPP1):c.1303A>G (p.Ile435Val)
|
|
|
NM_006208.3(ENPP1):c.1348A>T (p.Ile450Phe)
|
|
|
NM_006208.3(ENPP1):c.1366C>T (p.Arg456Ter)
|
rs1258544339
|
|
NM_006208.3(ENPP1):c.1379C>G (p.Ser460Cys)
|
|
|
NM_006208.3(ENPP1):c.1405T>C (p.Phe469Leu)
|
|
|
NM_006208.3(ENPP1):c.1418G>A (p.Gly473Asp)
|
|
|
NM_006208.3(ENPP1):c.1426C>T (p.Arg476Ter)
|
|
|
NM_006208.3(ENPP1):c.1427G>A (p.Arg476Gln)
|
|
|
NM_006208.3(ENPP1):c.1437+3_1437+6del
|
rs747843796
|
|
NM_006208.3(ENPP1):c.1437+9_1437+12del
|
rs376640801
|
|
NM_006208.3(ENPP1):c.1438-3C>G
|
|
|
NM_006208.3(ENPP1):c.145T>A (p.Leu49Met)
|
|
|
NM_006208.3(ENPP1):c.1566-15A>G
|
|
|
NM_006208.3(ENPP1):c.1660G>A (p.Gly554Arg)
|
|
|
NM_006208.3(ENPP1):c.1678G>C (p.Glu560Gln)
|
|
|
NM_006208.3(ENPP1):c.168G>T (p.Gly56=)
|
|
|
NM_006208.3(ENPP1):c.169G>C (p.Glu57Gln)
|
|
|
NM_006208.3(ENPP1):c.1709A>G (p.Tyr570Cys)
|
|
|
NM_006208.3(ENPP1):c.1743G>A (p.Pro581=)
|
|
|
NM_006208.3(ENPP1):c.1777C>G (p.His593Asp)
|
|
|
NM_006208.3(ENPP1):c.1780C>T (p.Leu594Phe)
|
|
|
NM_006208.3(ENPP1):c.1811A>G (p.His604Arg)
|
|
|
NM_006208.3(ENPP1):c.1880C>T (p.Ser627Leu)
|
|
|
NM_006208.3(ENPP1):c.191C>T (p.Ala64Val)
|
|
|
NM_006208.3(ENPP1):c.1952T>C (p.Ile651Thr)
|
|
|
NM_006208.3(ENPP1):c.1962T>A (p.His654Gln)
|
|
|
NM_006208.3(ENPP1):c.2008A>G (p.Thr670Ala)
|
|
|
NM_006208.3(ENPP1):c.2052C>G (p.Ser684Arg)
|
|
|
NM_006208.3(ENPP1):c.2100T>C (p.Asn700=)
|
|
|
NM_006208.3(ENPP1):c.2111C>T (p.Ser704Phe)
|
|
|
NM_006208.3(ENPP1):c.2171A>G (p.His724Arg)
|
|
|
NM_006208.3(ENPP1):c.2183T>C (p.Phe728Ser)
|
|
|
NM_006208.3(ENPP1):c.2191A>C (p.Asn731His)
|
|
|
NM_006208.3(ENPP1):c.219C>A (p.Asn73Lys)
|
|
|
NM_006208.3(ENPP1):c.219C>G (p.Asn73Lys)
|
|
|
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His)
|
rs144099489
|
|
NM_006208.3(ENPP1):c.2236A>T (p.Asn746Tyr)
|
|
|
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu)
|
rs1195604374
|
|
NM_006208.3(ENPP1):c.2280A>T (p.Thr760=)
|
|
|
NM_006208.3(ENPP1):c.2297A>G (p.Tyr766Cys)
|
|
|
NM_006208.3(ENPP1):c.2312-1G>A
|
|
|
NM_006208.3(ENPP1):c.2316A>G (p.Ile772Met)
|
|
|
NM_006208.3(ENPP1):c.2371G>A (p.Val791Ile)
|
|
|
NM_006208.3(ENPP1):c.2375A>G (p.Asn792Ser)
|
|
|
NM_006208.3(ENPP1):c.2416C>T (p.Arg806Cys)
|
|
|
NM_006208.3(ENPP1):c.2417G>A (p.Arg806His)
|
|
|
NM_006208.3(ENPP1):c.2426C>T (p.Ser809Phe)
|
|
|
NM_006208.3(ENPP1):c.2429T>C (p.Leu810Ser)
|
|
|
NM_006208.3(ENPP1):c.2430A>C (p.Leu810Phe)
|
|
|
NM_006208.3(ENPP1):c.2466C>G (p.Asn822Lys)
|
|
|
NM_006208.3(ENPP1):c.2478G>T (p.Leu826Phe)
|
|
|
NM_006208.3(ENPP1):c.2479_2482dup (p.Pro828fs)
|
|
|
NM_006208.3(ENPP1):c.2554G>C (p.Asp852His)
|
|
|
NM_006208.3(ENPP1):c.2596G>A (p.Glu866Lys)
|
|
|
NM_006208.3(ENPP1):c.2611G>A (p.Gly871Arg)
|
|
|
NM_006208.3(ENPP1):c.2625C>T (p.Ser875=)
|
|
|
NM_006208.3(ENPP1):c.2631G>A (p.Trp877Ter)
|
|
|
NM_006208.3(ENPP1):c.2638G>A (p.Glu880Lys)
|
|
|
NM_006208.3(ENPP1):c.274G>T (p.Gly92Cys)
|
|
|
NM_006208.3(ENPP1):c.2774A>G (p.Asp925Gly)
|
|
|
NM_006208.3(ENPP1):c.2T>G (p.Met1Arg)
|
|
|
NM_006208.3(ENPP1):c.304G>T (p.Ala102Ser)
|
|
|
NM_006208.3(ENPP1):c.313+1G>A
|
|
|
NM_006208.3(ENPP1):c.313+8_313+9dup
|
rs377330284
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT
|
rs879243445
|
|
NM_006208.3(ENPP1):c.314-10A>G
|
|
|
NM_006208.3(ENPP1):c.340G>A (p.Glu114Lys)
|
|
|
NM_006208.3(ENPP1):c.34C>G (p.Arg12Gly)
|
|
|
NM_006208.3(ENPP1):c.362G>T (p.Arg121Leu)
|
|
|
NM_006208.3(ENPP1):c.428C>G (p.Pro143Arg)
|
|
|
NM_006208.3(ENPP1):c.430+3A>G
|
|
|
NM_006208.3(ENPP1):c.464G>A (p.Gly155Asp)
|
|
|
NM_006208.3(ENPP1):c.502G>C (p.Asp168His)
|
|
|
NM_006208.3(ENPP1):c.58C>T (p.Pro20Ser)
|
|
|
NM_006208.3(ENPP1):c.590G>A (p.Ser197Asn)
|
|
|
NM_006208.3(ENPP1):c.597T>A (p.Asn199Lys)
|
|
|
NM_006208.3(ENPP1):c.602C>G (p.Pro201Arg)
|
|
|
NM_006208.3(ENPP1):c.659T>A (p.Phe220Tyr)
|
|
|
NM_006208.3(ENPP1):c.6del (p.Glu2fs)
|
|
|
NM_006208.3(ENPP1):c.73G>C (p.Ala25Pro)
|
|
|
NM_006208.3(ENPP1):c.742A>G (p.Met248Val)
|
|
|
NM_006208.3(ENPP1):c.744G>A (p.Met248Ile)
|
|
|
NM_006208.3(ENPP1):c.769_770del (p.Phe257fs)
|
|
|
NM_006208.3(ENPP1):c.820A>T (p.Ile274Leu)
|
|
|
NM_006208.3(ENPP1):c.82G>C (p.Gly28Arg)
|
|
|
NM_006208.3(ENPP1):c.895G>C (p.Glu299Gln)
|
|
|
NM_014832.5(TBC1D4):c.2664G>C (p.Glu888Asp)
|
|
|
NM_175914.5(HNF4A):c.*145T>A
|
rs200905283
|
|
NM_175914.5(HNF4A):c.1063+120G>A
|
|
|
NM_175914.5(HNF4A):c.10G>A (p.Val4Met)
|
|
|
NM_175914.5(HNF4A):c.1185G>A (p.Met395Ile)
|
|
|
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser)
|
rs193922470
|
|
NM_175914.5(HNF4A):c.1196C>T (p.Pro399Leu)
|
|
|
NM_175914.5(HNF4A):c.1208G>A (p.Gly403Glu)
|
|
|
NM_175914.5(HNF4A):c.1208G>T (p.Gly403Val)
|
|
|
NM_175914.5(HNF4A):c.1217-1G>A
|
|
|
NM_175914.5(HNF4A):c.124G>A (p.Gly42Arg)
|
|
|
NM_175914.5(HNF4A):c.1250G>A (p.Gly417Asp)
|
|
|
NM_175914.5(HNF4A):c.1312C>A (p.Leu438Ile)
|
|
|
NM_175914.5(HNF4A):c.1331C>T (p.Pro444Leu)
|
|
|
NM_175914.5(HNF4A):c.1348G>A (p.Glu450Lys)
|
|
|
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)
|
rs587777732
|
|
NM_175914.5(HNF4A):c.199C>A (p.Arg67=)
|
|
|
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)
|
rs1555813319
|
|
NM_175914.5(HNF4A):c.203A>G (p.Lys68Arg)
|
|
|
NM_175914.5(HNF4A):c.212T>G (p.Met71Arg)
|
|
|
NM_175914.5(HNF4A):c.287A>G (p.Lys96Arg)
|
|
|
NM_175914.5(HNF4A):c.28G>C (p.Ala10Pro)
|
|
|
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)
|
rs1085307913
|
|
NM_175914.5(HNF4A):c.427-1G>A
|
rs1568731279
|
|
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val)
|
rs368759794
|
|
NM_175914.5(HNF4A):c.461T>G (p.Ile154Ser)
|
|
|
NM_175914.5(HNF4A):c.463C>G (p.Arg155Gly)
|
|
|
NM_175914.5(HNF4A):c.463C>T (p.Arg155Trp)
|
|
|
NM_175914.5(HNF4A):c.534G>T (p.Glu178Asp)
|
|
|
NM_175914.5(HNF4A):c.577G>A (p.Asp193Asn)
|
|
|
NM_175914.5(HNF4A):c.583-19T>A
|
|
|
NM_175914.5(HNF4A):c.609C>T (p.Gly203=)
|
|
|
NM_175914.5(HNF4A):c.643A>G (p.Met215Val)
|
|
|
NM_175914.5(HNF4A):c.655G>A (p.Asp219Asn)
|
|
|
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)
|
rs376013528
|
|
NM_175914.5(HNF4A):c.702G>A (p.Pro234=)
|
|
|
NM_175914.5(HNF4A):c.707T>G (p.Leu236Arg)
|
|
|
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val)
|
|
|
NM_175914.5(HNF4A):c.716T>C (p.Met239Thr)
|
|
|
NM_175914.5(HNF4A):c.911G>A (p.Arg304His)
|
|
|
NM_175914.5(HNF4A):c.912C>A (p.Arg304=)
|
rs760811566
|
|
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)
|
rs776489992
|
|
NM_175914.5(HNF4A):c.991G>A (p.Glu331Lys)
|
|
|
NM_175914.5(HNF4A):c.999C>G (p.Ile333Met)
|
|
|