NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794
|
0.97933
|
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)
|
rs268674
|
0.95976
|
NM_030962.4(SBF2):c.4571-6C>T
|
rs2645029
|
0.88084
|
NM_006096.4(NDRG1):c.64-6T>C
|
rs2272653
|
0.65276
|
NM_181882.3(PRX):c.2645T>C (p.Val882Ala)
|
rs268671
|
0.59048
|
NM_181882.3(PRX):c.2655T>C (p.Pro885=)
|
rs268672
|
0.56968
|
NM_014845.6(FIG4):c.1948+3A>G
|
rs10499054
|
0.49269
|
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=)
|
rs1432793
|
0.48793
|
NM_014845.6(FIG4):c.447-564T>C
|
rs6568602
|
0.46411
|
NM_181882.3(PRX):c.2763A>G (p.Ile921Met)
|
rs268673
|
0.36279
|
NM_014845.6(FIG4):c.2559G>A (p.Ser853=)
|
rs1127771
|
0.34581
|
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)
|
rs9885672
|
0.33924
|
NM_014845.6(FIG4):c.647-18C>A
|
rs2273752
|
0.33064
|
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=)
|
rs566204
|
0.28363
|
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr)
|
rs3824874
|
0.27654
|
NM_001370298.3(FGD4):c.1716G>A (p.Arg572=)
|
rs10844253
|
0.27488
|
NM_018972.4(GDAP1):c.507T>G (p.Ser169=)
|
rs11554166
|
0.27295
|
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=)
|
rs11052110
|
0.25239
|
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser)
|
rs6875902
|
0.22262
|
NM_030962.4(SBF2):c.753-16T>A
|
rs7128234
|
0.18140
|
NM_001370298.3(FGD4):c.2047-7T>C
|
rs11052113
|
0.15340
|
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg)
|
rs3745202
|
0.12427
|
NM_181882.3(PRX):c.306C>T (p.Thr102=)
|
rs744389
|
0.12409
|
NM_006096.4(NDRG1):c.756-5C>T
|
rs2227262
|
0.11176
|
NM_001370298.3(FGD4):c.1750-12C>T
|
rs73083501
|
0.08885
|
NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys)
|
rs7102464
|
0.08286
|
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu)
|
rs12574508
|
0.07978
|
NM_001370298.3(FGD4):c.1404+8G>A
|
rs12823621
|
0.07737
|
NM_006096.4(NDRG1):c.755+10T>C
|
rs2233336
|
0.06123
|
NM_030962.4(SBF2):c.909C>T (p.Pro303=)
|
rs16907355
|
0.05858
|
NM_014845.6(FIG4):c.2377-19T>C
|
rs72944974
|
0.05800
|
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837
|
0.04647
|
NM_018972.4(GDAP1):c.485-20C>G
|
rs73345392
|
0.04498
|
NM_014845.6(FIG4):c.67-7T>C
|
rs56378532
|
0.04073
|
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=)
|
rs61735577
|
0.04066
|
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln)
|
rs61735578
|
0.03636
|
NM_014845.6(FIG4):c.2377-20_2377-19insC
|
rs201752617
|
0.03507
|
NM_181882.3(PRX):c.2017A>G (p.Met673Val)
|
rs61735531
|
0.03414
|
NM_024577.4(SH3TC2):c.2235T>G (p.Ala745=)
|
rs78120278
|
0.03339
|
NM_181882.3(PRX):c.2727C>T (p.Pro909=)
|
rs61735546
|
0.03308
|
NM_030962.4(SBF2):c.4933-15T>C
|
rs75447733
|
0.03044
|
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu)
|
rs17722293
|
0.02854
|
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=)
|
rs17722227
|
0.02289
|
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile)
|
rs55853803
|
0.02130
|
NM_181882.3(PRX):c.1051C>T (p.Pro351Ser)
|
rs73933276
|
0.02067
|
NM_030962.4(SBF2):c.3794-20C>T
|
rs116966215
|
0.02037
|
NM_016156.6(MTMR2):c.80+13C>T
|
rs139510268
|
0.01848
|
NM_024577.4(SH3TC2):c.2872+9G>A
|
rs76488338
|
0.01755
|
NM_030962.4(SBF2):c.3111-6T>C
|
rs16907139
|
0.01676
|
NM_001370298.3(FGD4):c.1926T>C (p.Ser642=)
|
rs60803891
|
0.01632
|
NM_030962.4(SBF2):c.2850C>T (p.Ile950=)
|
rs74642088
|
0.01620
|
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=)
|
rs113897932
|
0.01619
|
NM_030962.4(SBF2):c.513+17G>C
|
rs73410819
|
0.01551
|
NM_181882.3(PRX):c.471G>A (p.Glu157=)
|
rs4803335
|
0.01488
|
NM_001370298.3(FGD4):c.1954-8T>C
|
rs115061722
|
0.01466
|
NM_181882.3(PRX):c.731C>T (p.Ala244Val)
|
rs118071705
|
0.01410
|
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser)
|
rs558018
|
0.01295
|
NM_006096.4(NDRG1):c.892-5C>T
|
rs2233346
|
0.01290
|
NM_006096.4(NDRG1):c.306C>T (p.Gly102=)
|
rs2233322
|
0.01251
|
NM_006096.4(NDRG1):c.507G>A (p.Ala169=)
|
rs2233331
|
0.01225
|
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=)
|
rs77574155
|
0.01137
|
NM_181882.3(PRX):c.3218A>G (p.Glu1073Gly)
|
rs61733451
|
0.01078
|
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln)
|
rs146789340
|
0.01068
|
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=)
|
rs79251068
|
0.01066
|
NM_014845.6(FIG4):c.1242T>C (p.Ile414=)
|
rs61729087
|
0.00891
|
NM_006096.4(NDRG1):c.199A>G (p.Met67Val)
|
rs2233319
|
0.00829
|
NM_001370298.3(FGD4):c.1247+10G>T
|
rs41276676
|
0.00792
|
NM_001370298.3(FGD4):c.1470C>T (p.Pro490=)
|
rs16920084
|
0.00752
|
NM_030962.4(SBF2):c.1173A>G (p.Ala391=)
|
rs79470805
|
0.00687
|
NM_181882.3(PRX):c.2469G>A (p.Ala823=)
|
rs61733450
|
0.00644
|
NM_181882.3(PRX):c.4044G>C (p.Gly1348=)
|
rs76088917
|
0.00620
|
NM_014845.6(FIG4):c.447-16G>T
|
rs200890189
|
0.00618
|
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)
|
rs80227512
|
0.00587
|
NM_181882.3(PRX):c.133C>G (p.Arg45Gly)
|
rs115090201
|
0.00569
|
NM_001370298.3(FGD4):c.1143G>A (p.Ser381=)
|
rs34555341
|
0.00555
|
NM_181882.3(PRX):c.1281C>T (p.Ile427=)
|
rs76960467
|
0.00551
|
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser)
|
rs115927577
|
0.00548
|
NM_024577.4(SH3TC2):c.2868A>G (p.Leu956=)
|
rs115507662
|
0.00534
|
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)
|
rs61748364
|
0.00526
|
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg)
|
rs17109261
|
0.00521
|
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys)
|
rs73795753
|
0.00494
|
NM_016156.6(MTMR2):c.547G>T (p.Ala183Ser)
|
rs142155860
|
0.00492
|
NM_030962.4(SBF2):c.645T>C (p.Phe215=)
|
rs148187321
|
0.00491
|
NM_014845.6(FIG4):c.66+10C>T
|
rs200063827
|
0.00462
|
NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=)
|
rs13436308
|
0.00462
|
NM_006096.4(NDRG1):c.879G>A (p.Pro293=)
|
rs2233340
|
0.00458
|
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)
|
rs117336941
|
0.00456
|
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala)
|
rs61729092
|
0.00411
|
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val)
|
rs6874630
|
0.00407
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00398
|
NM_016156.6(MTMR2):c.570+11T>C
|
rs182582445
|
0.00390
|
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val)
|
rs115577291
|
0.00390
|
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=)
|
rs193067884
|
0.00337
|
NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro)
|
rs146061247
|
0.00332
|
NM_016156.6(MTMR2):c.1770+7_1770+12del
|
rs754608173
|
0.00319
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765
|
0.00297
|
NM_016156.6(MTMR2):c.130G>A (p.Val44Ile)
|
rs146004831
|
0.00293
|
NM_181882.3(PRX):c.554G>A (p.Arg185His)
|
rs76756143
|
0.00292
|
NM_181882.3(PRX):c.3702C>T (p.Gly1234=)
|
rs139950446
|
0.00291
|
NM_024577.4(SH3TC2):c.558C>T (p.Ser186=)
|
rs141289653
|
0.00290
|
NM_181882.3(PRX):c.3846G>A (p.Ser1282=)
|
rs143289108
|
0.00288
|
NM_030962.4(SBF2):c.4693A>G (p.Ile1565Val)
|
rs115345208
|
0.00285
|
NM_018972.4(GDAP1):c.117+12C>G
|
rs202059380
|
0.00284
|
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys)
|
rs145337669
|
0.00275
|
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=)
|
rs138411915
|
0.00267
|
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687
|
0.00267
|
NM_181882.3(PRX):c.892C>T (p.Pro298Ser)
|
rs185112635
|
0.00262
|
NM_181882.3(PRX):c.2043C>T (p.Pro681=)
|
rs56743160
|
0.00259
|
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=)
|
rs151083690
|
0.00230
|
NM_024577.4(SH3TC2):c.3479-8A>G
|
rs147800229
|
0.00227
|
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=)
|
rs112327353
|
0.00216
|
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)
|
rs145115430
|
0.00213
|
NM_024577.4(SH3TC2):c.1473C>T (p.Phe491=)
|
rs144016931
|
0.00213
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu)
|
rs2233328
|
0.00201
|
NM_181882.3(PRX):c.445G>A (p.Ala149Thr)
|
rs142436391
|
0.00193
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_016156.6(MTMR2):c.1757G>A (p.Arg586Gln)
|
rs61735576
|
0.00175
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00173
|
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)
|
rs116750638
|
0.00169
|
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)
|
rs138160928
|
0.00168
|
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=)
|
rs111967328
|
0.00167
|
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)
|
rs140985600
|
0.00166
|
NM_001370298.3(FGD4):c.666A>T (p.Ala222=)
|
rs139357821
|
0.00161
|
NM_024577.4(SH3TC2):c.2873-18T>C
|
rs113514936
|
0.00154
|
NM_024577.4(SH3TC2):c.1177+10G>A
|
rs139257109
|
0.00153
|
NM_030962.4(SBF2):c.2337C>T (p.Ser779=)
|
rs140730386
|
0.00144
|
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479
|
0.00140
|
NM_181882.3(PRX):c.719G>A (p.Arg240Gln)
|
rs77917609
|
0.00140
|
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)
|
rs142762689
|
0.00138
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_181882.3(PRX):c.3838G>C (p.Glu1280Gln)
|
rs146205352
|
0.00135
|
NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=)
|
rs117804174
|
0.00133
|
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676
|
0.00133
|
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)
|
rs61753359
|
0.00131
|
NM_014845.6(FIG4):c.446+9G>A
|
rs190287033
|
0.00128
|
NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr)
|
rs10066882
|
0.00128
|
NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=)
|
rs17795193
|
0.00125
|
NM_014845.6(FIG4):c.627A>G (p.Leu209=)
|
rs140111406
|
0.00119
|
NM_024577.4(SH3TC2):c.1195T>C (p.Phe399Leu)
|
rs144764160
|
0.00118
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val)
|
rs148321018
|
0.00117
|
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)
|
rs146162276
|
0.00114
|
NM_018972.4(GDAP1):c.310+6del
|
rs780828430
|
0.00109
|
NM_181882.3(PRX):c.580C>T (p.Arg194Cys)
|
rs45521038
|
0.00109
|
NM_024577.4(SH3TC2):c.1299G>A (p.Ser433=)
|
rs140904010
|
0.00108
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=)
|
rs188104446
|
0.00106
|
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)
|
rs139188673
|
0.00105
|
NM_006096.4(NDRG1):c.789G>A (p.Ser263=)
|
rs61755062
|
0.00102
|
NM_030962.4(SBF2):c.777G>A (p.Pro259=)
|
rs142261202
|
0.00102
|
NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly)
|
rs148600818
|
0.00099
|
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)
|
rs147826200
|
0.00093
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00088
|
NM_014845.6(FIG4):c.1584-8T>A
|
rs199522051
|
0.00086
|
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904
|
0.00086
|
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=)
|
rs375970910
|
0.00083
|
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)
|
rs141686828
|
0.00078
|
NM_181882.3(PRX):c.2494G>C (p.Val832Leu)
|
rs116139153
|
0.00077
|
NM_181882.3(PRX):c.2094A>G (p.Glu698=)
|
rs1396877491
|
0.00075
|
NM_024577.4(SH3TC2):c.3644G>A (p.Arg1215His)
|
rs145390629
|
0.00074
|
NM_030962.4(SBF2):c.4111G>C (p.Val1371Leu)
|
rs149501654
|
0.00074
|
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly)
|
rs76784113
|
0.00069
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_030962.4(SBF2):c.3969G>A (p.Ser1323=)
|
rs77833016
|
0.00067
|
NM_181882.3(PRX):c.3145G>A (p.Gly1049Ser)
|
rs186086914
|
0.00067
|
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)
|
rs750958357
|
0.00065
|
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala)
|
rs10077543
|
0.00063
|
NM_181882.3(PRX):c.499C>T (p.Arg167Cys)
|
rs10425452
|
0.00062
|
NM_006096.4(NDRG1):c.389+8C>T
|
rs375532877
|
0.00060
|
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg)
|
rs199894823
|
0.00059
|
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His)
|
rs150028248
|
0.00059
|
NM_030962.4(SBF2):c.4947G>A (p.Leu1649=)
|
rs149659495
|
0.00059
|
NM_181882.3(PRX):c.1964C>T (p.Pro655Leu)
|
rs118003416
|
0.00059
|
NM_181882.3(PRX):c.1625G>A (p.Arg542Gln)
|
rs139586219
|
0.00058
|
NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg)
|
rs200332462
|
0.00058
|
NM_018972.4(GDAP1):c.459G>A (p.Pro153=)
|
rs149804782
|
0.00057
|
NM_014845.6(FIG4):c.2377-18T>C
|
rs560214203
|
0.00056
|
NM_024577.4(SH3TC2):c.1482C>T (p.Leu494=)
|
rs200665714
|
0.00056
|
NM_006096.4(NDRG1):c.122A>G (p.His41Arg)
|
rs2233318
|
0.00054
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
0.00054
|
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467
|
0.00053
|
NM_024577.4(SH3TC2):c.3456C>T (p.Ala1152=)
|
rs530810802
|
0.00053
|
NM_018972.4(GDAP1):c.474A>G (p.Thr158=)
|
rs202215041
|
0.00052
|
NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr)
|
rs149967939
|
0.00052
|
NM_181882.3(PRX):c.2728G>A (p.Ala910Thr)
|
rs145203783
|
0.00052
|
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)
|
rs142451273
|
0.00051
|
NM_030962.4(SBF2):c.2081C>T (p.Ala694Val)
|
rs141368249
|
0.00051
|
NM_001370298.3(FGD4):c.1075G>A (p.Val359Ile)
|
rs528790143
|
0.00050
|
NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg)
|
rs147772705
|
0.00048
|
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=)
|
rs200784979
|
0.00048
|
NM_030962.4(SBF2):c.5054C>G (p.Ser1685Trp)
|
rs148468522
|
0.00048
|
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln)
|
rs140307699
|
0.00047
|
NM_181882.3(PRX):c.1651G>A (p.Val551Met)
|
rs61733448
|
0.00047
|
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile)
|
rs144199299
|
0.00046
|
NM_024577.4(SH3TC2):c.257A>G (p.Gln86Arg)
|
rs138429238
|
0.00046
|
NM_030962.4(SBF2):c.4054A>G (p.Ser1352Gly)
|
rs201951073
|
0.00046
|
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559
|
0.00046
|
NM_181882.3(PRX):c.2832T>C (p.Ala944=)
|
rs145226687
|
0.00046
|
NM_181882.3(PRX):c.381+18G>A
|
rs147585269
|
0.00046
|
NM_024577.4(SH3TC2):c.1768G>A (p.Ala590Thr)
|
rs149244124
|
0.00045
|
NM_006096.4(NDRG1):c.891+5G>A
|
rs150968034
|
0.00044
|
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr)
|
rs144688852
|
0.00043
|
NM_181882.3(PRX):c.1397C>T (p.Pro466Leu)
|
rs144530674
|
0.00042
|
NM_181882.3(PRX):c.966G>T (p.Val322=)
|
rs139544245
|
0.00042
|
NM_030962.4(SBF2):c.4444-18T>G
|
rs143439179
|
0.00041
|
NM_181882.3(PRX):c.2101G>A (p.Val701Met)
|
rs116855701
|
0.00041
|
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)
|
rs148508128
|
0.00040
|
NM_006096.4(NDRG1):c.944-13C>T
|
rs753312340
|
0.00039
|
NM_030962.4(SBF2):c.1965G>A (p.Thr655=)
|
rs143732754
|
0.00039
|
NM_030962.4(SBF2):c.291G>A (p.Lys97=)
|
rs150056369
|
0.00039
|
NM_014845.6(FIG4):c.2459+5G>A
|
rs367944508
|
0.00038
|
NM_024577.4(SH3TC2):c.2385C>T (p.Ser795=)
|
rs145345364
|
0.00038
|
NM_181882.3(PRX):c.4265G>A (p.Arg1422Gln)
|
rs142436702
|
0.00038
|
NM_001370298.3(FGD4):c.1440T>C (p.His480=)
|
rs150223260
|
0.00037
|
NM_024577.4(SH3TC2):c.1522G>A (p.Val508Met)
|
rs148155691
|
0.00036
|
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln)
|
rs751621364
|
0.00036
|
NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser)
|
rs141783628
|
0.00036
|
NM_181882.3(PRX):c.540G>A (p.Pro180=)
|
rs371243093
|
0.00036
|
NM_024577.4(SH3TC2):c.1172T>G (p.Leu391Arg)
|
rs141544031
|
0.00035
|
NM_181882.3(PRX):c.3708G>A (p.Ala1236=)
|
rs202119177
|
0.00035
|
NM_024577.4(SH3TC2):c.2306A>G (p.Glu769Gly)
|
rs151317042
|
0.00034
|
NM_024577.4(SH3TC2):c.2919G>A (p.Val973=)
|
rs145528276
|
0.00034
|
NM_181882.3(PRX):c.2817G>A (p.Ser939=)
|
rs112544351
|
0.00034
|
NM_181882.3(PRX):c.3324G>A (p.Glu1108=)
|
rs111964746
|
0.00034
|
NM_181882.3(PRX):c.3960C>T (p.Ala1320=)
|
rs149626915
|
0.00034
|
NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro)
|
rs142609007
|
0.00033
|
NM_024577.4(SH3TC2):c.3017C>T (p.Ser1006Phe)
|
rs144733764
|
0.00033
|
NM_030962.4(SBF2):c.705T>C (p.Ser235=)
|
rs143209062
|
0.00033
|
NM_181882.3(PRX):c.960G>A (p.Ser320=)
|
rs775367319
|
0.00033
|
NM_014845.6(FIG4):c.2459+14A>C
|
rs200078556
|
0.00032
|
NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe)
|
rs149873249
|
0.00032
|
NM_181882.3(PRX):c.285C>T (p.Cys95=)
|
rs531527827
|
0.00032
|
NM_006096.4(NDRG1):c.808-12C>T
|
rs368230609
|
0.00031
|
NM_014845.6(FIG4):c.730C>T (p.Arg244Cys)
|
rs138376077
|
0.00031
|
NM_024577.4(SH3TC2):c.1443C>T (p.Asp481=)
|
rs146666910
|
0.00031
|
NM_001370298.3(FGD4):c.785C>T (p.Thr262Met)
|
rs200732890
|
0.00030
|
NM_030962.4(SBF2):c.1509A>G (p.Glu503=)
|
rs143773975
|
0.00030
|
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=)
|
rs145351367
|
0.00030
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys)
|
rs139217120
|
0.00029
|
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys)
|
rs141108330
|
0.00029
|
NM_181882.3(PRX):c.361C>T (p.Arg121Trp)
|
rs750435566
|
0.00029
|
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)
|
rs144963732
|
0.00028
|
NM_030962.4(SBF2):c.1623G>A (p.Thr541=)
|
rs184849947
|
0.00028
|
NM_030962.4(SBF2):c.513+18A>T
|
rs201201683
|
0.00027
|
NM_181882.3(PRX):c.2106C>T (p.Pro702=)
|
rs183461864
|
0.00027
|
NM_014845.6(FIG4):c.1751-16A>G
|
rs200778905
|
0.00026
|
NM_016156.6(MTMR2):c.1563C>A (p.Leu521=)
|
rs772490648
|
0.00026
|
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=)
|
rs140829706
|
0.00026
|
NM_024577.4(SH3TC2):c.385+3A>G
|
rs184593694
|
0.00026
|
NM_181882.3(PRX):c.2837C>T (p.Ala946Val)
|
rs139700059
|
0.00026
|
NM_006096.4(NDRG1):c.943+18C>T
|
rs80294106
|
0.00025
|
NM_030962.4(SBF2):c.4515G>A (p.Val1505=)
|
rs144935862
|
0.00025
|
NM_181882.3(PRX):c.1568T>C (p.Leu523Pro)
|
rs550446238
|
0.00025
|
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp)
|
rs201826412
|
0.00024
|
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser)
|
rs137993172
|
0.00024
|
NM_030962.4(SBF2):c.2938A>G (p.Ile980Val)
|
rs148625171
|
0.00024
|
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=)
|
rs139898175
|
0.00023
|
NM_030962.4(SBF2):c.3433A>G (p.Arg1145Gly)
|
rs145647154
|
0.00023
|
NM_014845.6(FIG4):c.2460-8A>G
|
rs201965891
|
0.00022
|
NM_014845.6(FIG4):c.42G>A (p.Lys14=)
|
rs552856153
|
0.00022
|
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)
|
rs776005417
|
0.00022
|
NM_024577.4(SH3TC2):c.1240G>A (p.Val414Met)
|
rs138303846
|
0.00022
|
NM_181882.3(PRX):c.3306C>T (p.Val1102=)
|
rs774667067
|
0.00022
|
NM_181882.3(PRX):c.3580C>G (p.Leu1194Val)
|
rs149732789
|
0.00022
|
NM_181882.3(PRX):c.993G>A (p.Pro331=)
|
rs146323928
|
0.00022
|
NM_001370298.3(FGD4):c.1923-7A>G
|
rs200542541
|
0.00021
|
NM_001370298.3(FGD4):c.2193C>T (p.Ser731=)
|
rs147136365
|
0.00021
|
NM_006096.4(NDRG1):c.613G>A (p.Val205Met)
|
rs138839833
|
0.00021
|
NM_014845.6(FIG4):c.1479C>G (p.Thr493=)
|
rs144072304
|
0.00021
|
NM_016156.6(MTMR2):c.1353A>G (p.Lys451=)
|
rs114336434
|
0.00021
|
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=)
|
rs117860293
|
0.00021
|
NM_030962.4(SBF2):c.56-8A>C
|
rs369979138
|
0.00021
|
NM_181882.3(PRX):c.1510C>T (p.Leu504Phe)
|
rs192607896
|
0.00021
|
NM_181882.3(PRX):c.2190C>G (p.Pro730=)
|
rs1336238948
|
0.00021
|
NM_001370298.3(FGD4):c.2625T>C (p.Ala875=)
|
rs200144770
|
0.00020
|
NM_006096.4(NDRG1):c.63+6T>C
|
rs199597649
|
0.00020
|
NM_030962.4(SBF2):c.3652+18A>C
|
rs569103394
|
0.00020
|
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)
|
rs139522696
|
0.00020
|
NM_181882.3(PRX):c.1987C>T (p.Pro663Ser)
|
rs149183991
|
0.00020
|
NM_006096.4(NDRG1):c.1027C>T (p.Arg343Cys)
|
rs146613168
|
0.00019
|
NM_016156.6(MTMR2):c.1106T>C (p.Ile369Thr)
|
rs200083635
|
0.00019
|
NM_024577.4(SH3TC2):c.1839C>T (p.Leu613=)
|
rs182893450
|
0.00019
|
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser)
|
rs138120231
|
0.00019
|
NM_030962.4(SBF2):c.3223C>T (p.Arg1075Cys)
|
rs750021823
|
0.00019
|
NM_030962.4(SBF2):c.4699-9C>A
|
rs376668219
|
0.00019
|
NM_030962.4(SBF2):c.4799C>T (p.Thr1600Ile)
|
rs183468503
|
0.00019
|
NM_030962.4(SBF2):c.651A>G (p.Ala217=)
|
rs200293270
|
0.00019
|
NM_181882.3(PRX):c.257G>A (p.Cys86Tyr)
|
rs565094384
|
0.00019
|
NM_181882.3(PRX):c.3209G>A (p.Arg1070Gln)
|
rs146222815
|
0.00019
|
NM_181882.3(PRX):c.4366G>C (p.Ala1456Pro)
|
rs149093940
|
0.00019
|
NM_181882.3(PRX):c.500G>C (p.Arg167Pro)
|
rs757322355
|
0.00019
|
NM_014845.6(FIG4):c.2235C>T (p.Ala745=)
|
rs144830399
|
0.00018
|
NM_014845.6(FIG4):c.328A>G (p.Ile110Val)
|
rs140331779
|
0.00018
|
NM_024577.4(SH3TC2):c.1788T>A (p.Gly596=)
|
rs141893132
|
0.00018
|
NM_024577.4(SH3TC2):c.2715C>G (p.Leu905=)
|
rs141789598
|
0.00018
|
NM_024577.4(SH3TC2):c.87G>A (p.Ser29=)
|
rs148793803
|
0.00018
|
NM_181882.3(PRX):c.1624C>T (p.Arg542Trp)
|
rs201337455
|
0.00018
|
NM_181882.3(PRX):c.2199T>C (p.Pro733=)
|
rs1277285038
|
0.00018
|
NM_016156.6(MTMR2):c.1897G>A (p.Ala633Thr)
|
rs532885622
|
0.00017
|
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile)
|
rs139808557
|
0.00017
|
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=)
|
rs191964053
|
0.00017
|
NM_181882.3(PRX):c.2091T>C (p.Pro697=)
|
rs1390777490
|
0.00017
|
NM_181882.3(PRX):c.2278G>A (p.Val760Met)
|
rs548905150
|
0.00017
|
NM_181882.3(PRX):c.3549C>T (p.Tyr1183=)
|
rs367876251
|
0.00017
|
NM_181882.3(PRX):c.3656C>T (p.Pro1219Leu)
|
rs201393544
|
0.00017
|
NM_001370298.3(FGD4):c.1404+10C>T
|
rs374656859
|
0.00016
|
NM_001370298.3(FGD4):c.1759A>G (p.Met587Val)
|
rs201186597
|
0.00016
|
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val)
|
rs144037310
|
0.00016
|
NM_024577.4(SH3TC2):c.1973G>A (p.Arg658His)
|
rs138040787
|
0.00016
|
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly)
|
rs575937427
|
0.00016
|
NM_030962.4(SBF2):c.2319G>A (p.Ala773=)
|
rs201547070
|
0.00016
|
NM_030962.4(SBF2):c.3127A>G (p.Ile1043Val)
|
rs147438385
|
0.00016
|
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=)
|
rs147597665
|
0.00016
|
NM_030962.4(SBF2):c.514-12C>T
|
rs770141264
|
0.00016
|
NM_181882.3(PRX):c.1578G>A (p.Ser526=)
|
rs567690884
|
0.00016
|
NM_181882.3(PRX):c.641C>G (p.Pro214Arg)
|
rs368874138
|
0.00016
|
NM_001370298.3(FGD4):c.1973A>G (p.Asp658Gly)
|
rs141237776
|
0.00015
|
NM_006096.4(NDRG1):c.664G>A (p.Gly222Ser)
|
rs199995009
|
0.00015
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
NM_024577.4(SH3TC2):c.831G>A (p.Thr277=)
|
rs750308484
|
0.00015
|
NM_030962.4(SBF2):c.1812C>T (p.Asp604=)
|
rs765658939
|
0.00015
|
NM_030962.4(SBF2):c.2050C>G (p.Leu684Val)
|
rs146987383
|
0.00015
|
NM_181882.3(PRX):c.3588A>G (p.Gly1196=)
|
rs372745419
|
0.00015
|
NM_001370298.3(FGD4):c.1046A>G (p.Asn349Ser)
|
rs147969494
|
0.00014
|
NM_006096.4(NDRG1):c.1088G>A (p.Arg363His)
|
rs181121989
|
0.00014
|
NM_006096.4(NDRG1):c.1134G>A (p.Ser378=)
|
rs750369546
|
0.00014
|
NM_006096.4(NDRG1):c.393G>A (p.Leu131=)
|
rs149767690
|
0.00014
|
NM_014845.6(FIG4):c.1348C>T (p.Arg450Cys)
|
rs201072058
|
0.00014
|
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys)
|
rs377006678
|
0.00014
|
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala)
|
rs186380748
|
0.00014
|
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=)
|
rs374624466
|
0.00014
|
NM_024577.4(SH3TC2):c.1329G>A (p.Glu443=)
|
rs150135768
|
0.00014
|
NM_024577.4(SH3TC2):c.1607G>A (p.Arg536Gln)
|
rs369977771
|
0.00014
|
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)
|
rs145199888
|
0.00014
|
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys)
|
rs139967004
|
0.00014
|
NM_181882.3(PRX):c.1026A>C (p.Ala342=)
|
rs150772010
|
0.00014
|
NM_181882.3(PRX):c.2449C>T (p.Arg817Cys)
|
rs147441856
|
0.00014
|
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val)
|
rs140220443
|
0.00013
|
NM_006096.4(NDRG1):c.528C>T (p.Ala176=)
|
rs191237702
|
0.00013
|
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys)
|
rs540674198
|
0.00013
|
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln)
|
rs142971473
|
0.00013
|
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr)
|
rs186029710
|
0.00013
|
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843
|
0.00013
|
NM_024577.4(SH3TC2):c.3305A>G (p.His1102Arg)
|
rs187975909
|
0.00013
|
NM_024577.4(SH3TC2):c.836A>G (p.Tyr279Cys)
|
rs200215156
|
0.00013
|
NM_030962.4(SBF2):c.5010C>G (p.Asp1670Glu)
|
rs142672124
|
0.00013
|
NM_181882.3(PRX):c.1387G>T (p.Val463Phe)
|
rs764004836
|
0.00013
|
NM_181882.3(PRX):c.4151C>T (p.Ala1384Val)
|
rs201618230
|
0.00013
|
NM_181882.3(PRX):c.794G>T (p.Gly265Val)
|
rs374837022
|
0.00013
|
NM_006096.4(NDRG1):c.280G>A (p.Val94Met)
|
rs747475972
|
0.00012
|
NM_014845.6(FIG4):c.1271+5A>G
|
rs374583399
|
0.00012
|
NM_014845.6(FIG4):c.1923G>A (p.Lys641=)
|
rs140078026
|
0.00012
|
NM_016156.6(MTMR2):c.33C>T (p.Gly11=)
|
rs777455436
|
0.00012
|
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910
|
0.00012
|
NM_024577.4(SH3TC2):c.3127G>T (p.Ala1043Ser)
|
rs200819602
|
0.00012
|
NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp)
|
rs146366305
|
0.00012
|
NM_030962.4(SBF2):c.2536+13C>A
|
rs369035547
|
0.00012
|
NM_181882.3(PRX):c.2229C>T (p.Pro743=)
|
rs144975214
|
0.00012
|
NM_001370298.3(FGD4):c.1142C>T (p.Ser381Leu)
|
rs201915829
|
0.00011
|
NM_001370298.3(FGD4):c.506C>T (p.Ser169Leu)
|
rs143251785
|
0.00011
|
NM_006096.4(NDRG1):c.285C>T (p.Asp95=)
|
rs777855380
|
0.00011
|
NM_006096.4(NDRG1):c.660C>A (p.Asn220Lys)
|
rs143549909
|
0.00011
|
NM_014845.6(FIG4):c.1305G>C (p.Val435=)
|
rs145227623
|
0.00011
|
NM_014845.6(FIG4):c.1863C>A (p.Thr621=)
|
rs201744761
|
0.00011
|
NM_016156.6(MTMR2):c.1303T>C (p.Leu435=)
|
rs767737380
|
0.00011
|
NM_016156.6(MTMR2):c.624A>G (p.Leu208=)
|
rs979063255
|
0.00011
|
NM_018972.4(GDAP1):c.594T>C (p.Asp198=)
|
rs565901784
|
0.00011
|
NM_018972.4(GDAP1):c.744C>T (p.Asp248=)
|
rs370099528
|
0.00011
|
NM_024577.4(SH3TC2):c.1097C>G (p.Thr366Ser)
|
rs769250455
|
0.00011
|
NM_024577.4(SH3TC2):c.1326G>A (p.Pro442=)
|
rs138967360
|
0.00011
|
NM_024577.4(SH3TC2):c.1853A>G (p.Tyr618Cys)
|
rs772780166
|
0.00011
|
NM_024577.4(SH3TC2):c.2286C>T (p.Ile762=)
|
rs766340169
|
0.00011
|
NM_030962.4(SBF2):c.4095C>T (p.Ile1365=)
|
rs142904756
|
0.00011
|
NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser)
|
rs371960255
|
0.00011
|
NM_181882.3(PRX):c.1129G>T (p.Val377Leu)
|
rs754081921
|
0.00011
|
NM_181882.3(PRX):c.2047G>A (p.Val683Met)
|
rs575075163
|
0.00011
|
NM_181882.3(PRX):c.2943G>A (p.Gly981=)
|
rs142228732
|
0.00011
|
NM_181882.3(PRX):c.3804C>T (p.Ala1268=)
|
rs553825184
|
0.00011
|
NM_181882.3(PRX):c.718C>T (p.Arg240Trp)
|
rs199863083
|
0.00011
|
NM_001370298.3(FGD4):c.2029A>G (p.Ile677Val)
|
rs1230547567
|
0.00010
|
NM_001370298.3(FGD4):c.2123C>A (p.Pro708His)
|
rs145071617
|
0.00010
|
NM_001370298.3(FGD4):c.2220T>C (p.Asp740=)
|
rs1031324844
|
0.00010
|
NM_006096.4(NDRG1):c.1053A>C (p.Arg351=)
|
rs370153201
|
0.00010
|
NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile)
|
rs745520295
|
0.00010
|
NM_014845.6(FIG4):c.102G>A (p.Thr34=)
|
rs145711919
|
0.00010
|
NM_014845.6(FIG4):c.2376+9G>A
|
rs374450869
|
0.00010
|
NM_016156.6(MTMR2):c.1594-20C>A
|
rs201996397
|
0.00010
|
NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val)
|
rs149476960
|
0.00010
|
NM_016156.6(MTMR2):c.1843C>G (p.Gln615Glu)
|
rs886048770
|
0.00010
|
NM_018972.4(GDAP1):c.72T>C (p.Val24=)
|
rs142674939
|
0.00010
|
NM_024577.4(SH3TC2):c.1106G>A (p.Arg369His)
|
rs551803988
|
0.00010
|
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys)
|
rs747938069
|
0.00010
|
NM_024577.4(SH3TC2):c.2273C>A (p.Ala758Asp)
|
rs200006756
|
0.00010
|
NM_024577.4(SH3TC2):c.3013G>A (p.Glu1005Lys)
|
rs147895061
|
0.00010
|
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn)
|
rs150805608
|
0.00010
|
NM_024577.4(SH3TC2):c.529+8T>A
|
rs780594631
|
0.00010
|
NM_024577.4(SH3TC2):c.894C>T (p.Ile298=)
|
rs779808918
|
0.00010
|
NM_030962.4(SBF2):c.2474A>G (p.Lys825Arg)
|
rs753921188
|
0.00010
|
NM_030962.4(SBF2):c.3056A>T (p.Gln1019Leu)
|
rs201964421
|
0.00010
|
NM_030962.4(SBF2):c.4809C>T (p.His1603=)
|
rs199670153
|
0.00010
|
NM_181882.3(PRX):c.16C>G (p.Arg6Gly)
|
rs759056060
|
0.00010
|
NM_181882.3(PRX):c.1836C>T (p.Ala612=)
|
rs574899855
|
0.00010
|
NM_181882.3(PRX):c.2044G>A (p.Glu682Lys)
|
rs761277865
|
0.00010
|
NM_181882.3(PRX):c.2909G>A (p.Arg970Gln)
|
rs764162630
|
0.00010
|
NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln)
|
rs763294661
|
0.00010
|
NM_001370298.3(FGD4):c.1508T>C (p.Leu503Ser)
|
rs555510533
|
0.00009
|
NM_001370298.3(FGD4):c.1543+13T>C
|
rs762177862
|
0.00009
|
NM_001370298.3(FGD4):c.2517C>T (p.Ser839=)
|
rs777555137
|
0.00009
|
NM_006096.4(NDRG1):c.663C>T (p.Pro221=)
|
rs377225752
|
0.00009
|
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)
|
rs377357931
|
0.00009
|
NM_014845.6(FIG4):c.2459+7T>G
|
rs575271308
|
0.00009
|
NM_014845.6(FIG4):c.350C>T (p.Ala117Val)
|
rs551339249
|
0.00009
|
NM_014845.6(FIG4):c.717A>G (p.Lys239=)
|
rs750904354
|
0.00009
|
NM_016156.6(MTMR2):c.263-3C>T
|
rs553551578
|
0.00009
|
NM_016156.6(MTMR2):c.279T>C (p.Tyr93=)
|
rs372937811
|
0.00009
|
NM_018972.4(GDAP1):c.58G>A (p.Ala20Thr)
|
rs375536495
|
0.00009
|
NM_018972.4(GDAP1):c.693A>T (p.Pro231=)
|
rs181157785
|
0.00009
|
NM_018972.4(GDAP1):c.894T>C (p.Asn298=)
|
rs756599272
|
0.00009
|
NM_024577.4(SH3TC2):c.1002-7G>A
|
rs752528409
|
0.00009
|
NM_024577.4(SH3TC2):c.1861C>T (p.Arg621Cys)
|
rs201403149
|
0.00009
|
NM_024577.4(SH3TC2):c.197T>C (p.Val66Ala)
|
rs1485527369
|
0.00009
|
NM_024577.4(SH3TC2):c.2310C>T (p.His770=)
|
rs142462049
|
0.00009
|
NM_024577.4(SH3TC2):c.259G>C (p.Glu87Gln)
|
rs947749200
|
0.00009
|
NM_024577.4(SH3TC2):c.280-5C>T
|
rs201937366
|
0.00009
|
NM_024577.4(SH3TC2):c.3166C>T (p.Leu1056Phe)
|
rs201805333
|
0.00009
|
NM_024577.4(SH3TC2):c.3459C>G (p.Ala1153=)
|
rs1030348232
|
0.00009
|
NM_024577.4(SH3TC2):c.3836G>A (p.Arg1279Gln)
|
rs142774907
|
0.00009
|
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=)
|
rs147013935
|
0.00009
|
NM_030962.4(SBF2):c.1296+13T>C
|
rs376685939
|
0.00009
|
NM_030962.4(SBF2):c.1907C>A (p.Pro636His)
|
rs544091616
|
0.00009
|
NM_030962.4(SBF2):c.2085G>A (p.Pro695=)
|
rs148241076
|
0.00009
|
NM_030962.4(SBF2):c.280-5T>C
|
rs368118378
|
0.00009
|
NM_030962.4(SBF2):c.3111-9G>A
|
rs200045139
|
0.00009
|
NM_030962.4(SBF2):c.4076C>T (p.Ala1359Val)
|
rs368839717
|
0.00009
|
NM_030962.4(SBF2):c.4614A>G (p.Gly1538=)
|
rs750092509
|
0.00009
|
NM_030962.4(SBF2):c.5037+12A>G
|
rs372500490
|
0.00009
|
NM_030962.4(SBF2):c.5038-14C>T
|
rs200268388
|
0.00009
|
NM_030962.4(SBF2):c.5484C>T (p.Cys1828=)
|
rs149571145
|
0.00009
|
NM_030962.4(SBF2):c.5526C>A (p.Ile1842=)
|
rs376788960
|
0.00009
|
NM_181882.3(PRX):c.1091G>A (p.Arg364Gln)
|
rs561482109
|
0.00009
|
NM_181882.3(PRX):c.2265G>A (p.Leu755=)
|
rs370753668
|
0.00009
|
NM_181882.3(PRX):c.2463C>T (p.Gly821=)
|
rs368481955
|
0.00009
|
NM_181882.3(PRX):c.3346G>T (p.Val1116Leu)
|
rs148075077
|
0.00009
|
NM_181882.3(PRX):c.3673G>A (p.Val1225Met)
|
rs140880177
|
0.00009
|
NM_181882.3(PRX):c.3891G>A (p.Glu1297=)
|
rs775809057
|
0.00009
|
NM_181882.3(PRX):c.4111C>T (p.Arg1371Trp)
|
rs753339248
|
0.00009
|
NM_181882.3(PRX):c.4129C>T (p.Arg1377Cys)
|
rs768524850
|
0.00009
|
NM_181882.3(PRX):c.862G>A (p.Val288Met)
|
rs568618329
|
0.00009
|
NM_001370298.3(FGD4):c.1953+20C>T
|
rs773153085
|
0.00008
|
NM_001370298.3(FGD4):c.603A>G (p.Gln201=)
|
rs771558628
|
0.00008
|
NM_006096.4(NDRG1):c.1051C>T (p.Arg351Ter)
|
rs765621411
|
0.00008
|
NM_006096.4(NDRG1):c.1059C>T (p.Arg353=)
|
rs527561085
|
0.00008
|
NM_014845.6(FIG4):c.101C>T (p.Thr34Met)
|
rs375691683
|
0.00008
|
NM_014845.6(FIG4):c.1804G>A (p.Glu602Lys)
|
rs143184413
|
0.00008
|
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327
|
0.00008
|
NM_014845.6(FIG4):c.272C>T (p.Ser91Leu)
|
rs753543659
|
0.00008
|
NM_014845.6(FIG4):c.918C>T (p.Cys306=)
|
rs369159531
|
0.00008
|
NM_016156.6(MTMR2):c.298G>A (p.Ala100Thr)
|
rs370701984
|
0.00008
|
NM_016156.6(MTMR2):c.993+9G>C
|
rs201595704
|
0.00008
|
NM_024577.4(SH3TC2):c.1105C>T (p.Arg369Cys)
|
rs569974719
|
0.00008
|
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu)
|
rs146364285
|
0.00008
|
NM_024577.4(SH3TC2):c.1725G>T (p.Leu575Phe)
|
rs376266262
|
0.00008
|
NM_024577.4(SH3TC2):c.53-6C>T
|
rs760274954
|
0.00008
|
NM_030962.4(SBF2):c.2070A>G (p.Glu690=)
|
rs201247796
|
0.00008
|
NM_030962.4(SBF2):c.4512T>C (p.Tyr1504=)
|
rs772156530
|
0.00008
|
NM_030962.4(SBF2):c.5231+14C>T
|
rs371184526
|
0.00008
|
NM_030962.4(SBF2):c.774C>A (p.Leu258=)
|
rs887509504
|
0.00008
|
NM_030962.4(SBF2):c.783G>T (p.Gln261His)
|
rs759932929
|
0.00008
|
NM_030962.4(SBF2):c.946C>T (p.Leu316=)
|
rs374841593
|
0.00008
|
NM_181882.3(PRX):c.1369G>A (p.Glu457Lys)
|
rs142064826
|
0.00008
|
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)
|
rs144305922
|
0.00008
|
NM_181882.3(PRX):c.1646C>T (p.Pro549Leu)
|
rs150582069
|
0.00008
|
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr)
|
rs368459753
|
0.00008
|
NM_181882.3(PRX):c.4017C>A (p.Ser1339Arg)
|
rs758057597
|
0.00008
|
NM_181882.3(PRX):c.553C>T (p.Arg185Cys)
|
rs376863946
|
0.00008
|
NM_181882.3(PRX):c.574C>T (p.Arg192Trp)
|
rs780147663
|
0.00008
|
NM_181882.3(PRX):c.69G>A (p.Thr23=)
|
rs142535919
|
0.00008
|
NM_181882.3(PRX):c.762C>A (p.Pro254=)
|
rs546448969
|
0.00008
|
NM_006096.4(NDRG1):c.1101C>T (p.Ser367=)
|
rs201959970
|
0.00007
|
NM_006096.4(NDRG1):c.185A>G (p.Tyr62Cys)
|
rs142426003
|
0.00007
|
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val)
|
rs202118022
|
0.00007
|
NM_006096.4(NDRG1):c.431A>G (p.Tyr144Cys)
|
rs139220402
|
0.00007
|
NM_006096.4(NDRG1):c.720G>A (p.Glu240=)
|
rs1400704810
|
0.00007
|
NM_014845.6(FIG4):c.2096G>A (p.Arg699His)
|
rs750091928
|
0.00007
|
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile)
|
rs146689226
|
0.00007
|
NM_014845.6(FIG4):c.2406T>C (p.Tyr802=)
|
rs765557108
|
0.00007
|
NM_014845.6(FIG4):c.498-13A>G
|
rs199891240
|
0.00007
|
NM_014845.6(FIG4):c.66+13dup
|
rs755637236
|
0.00007
|
NM_016156.6(MTMR2):c.1861C>T (p.Arg621Ter)
|
rs753364428
|
0.00007
|
NM_016156.6(MTMR2):c.810A>C (p.Leu270Phe)
|
rs587779385
|
0.00007
|
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp)
|
rs200898934
|
0.00007
|
NM_018972.4(GDAP1):c.33C>G (p.Ser11Arg)
|
rs202010117
|
0.00007
|
NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)
|
rs78346510
|
0.00007
|
NM_024577.4(SH3TC2):c.3095G>A (p.Arg1032His)
|
rs372839905
|
0.00007
|
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met)
|
rs147633804
|
0.00007
|
NM_030962.4(SBF2):c.1436G>A (p.Arg479Gln)
|
rs775059182
|
0.00007
|
NM_030962.4(SBF2):c.1499G>A (p.Arg500Gln)
|
rs759084094
|
0.00007
|
NM_030962.4(SBF2):c.2014A>G (p.Thr672Ala)
|
rs770839510
|
0.00007
|
NM_030962.4(SBF2):c.2436C>T (p.Ala812=)
|
rs374225152
|
0.00007
|
NM_030962.4(SBF2):c.3410A>G (p.Tyr1137Cys)
|
rs370742916
|
0.00007
|
NM_030962.4(SBF2):c.3455+9G>A
|
rs372886234
|
0.00007
|
NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala)
|
rs761285334
|
0.00007
|
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln)
|
rs757836523
|
0.00007
|
NM_030962.4(SBF2):c.4257+6C>G
|
rs370274486
|
0.00007
|
NM_030962.4(SBF2):c.5074T>C (p.Ser1692Pro)
|
rs776642521
|
0.00007
|
NM_181882.3(PRX):c.102A>C (p.Val34=)
|
rs761347226
|
0.00007
|
NM_181882.3(PRX):c.1040G>A (p.Arg347Gln)
|
rs141288626
|
0.00007
|
NM_181882.3(PRX):c.2036G>A (p.Arg679Gln)
|
rs145856805
|
0.00007
|
NM_181882.3(PRX):c.27+8C>A
|
rs769214562
|
0.00007
|
NM_181882.3(PRX):c.3037G>A (p.Asp1013Asn)
|
rs548086012
|
0.00007
|
NM_181882.3(PRX):c.3385T>C (p.Ser1129Pro)
|
rs139125398
|
0.00007
|
NM_181882.3(PRX):c.922A>G (p.Thr308Ala)
|
rs753330520
|
0.00007
|
NM_001370298.3(FGD4):c.1078A>C (p.Asn360His)
|
rs761788290
|
0.00006
|
NM_001370298.3(FGD4):c.1485C>T (p.Leu495=)
|
rs767265254
|
0.00006
|
NM_001370298.3(FGD4):c.1602+14G>A
|
rs369728071
|
0.00006
|
NM_001370298.3(FGD4):c.2559C>T (p.Ser853=)
|
rs373371535
|
0.00006
|
NM_001370298.3(FGD4):c.792A>G (p.Ile264Met)
|
rs774466701
|
0.00006
|
NM_001370298.3(FGD4):c.808G>A (p.Asp270Asn)
|
rs113416502
|
0.00006
|
NM_001370298.3(FGD4):c.980T>A (p.Leu327Gln)
|
rs144980336
|
0.00006
|
NM_006096.4(NDRG1):c.205C>T (p.His69Tyr)
|
rs373590447
|
0.00006
|
NM_006096.4(NDRG1):c.270C>T (p.Ala90=)
|
rs200328537
|
0.00006
|
NM_006096.4(NDRG1):c.510A>G (p.Glu170=)
|
rs1452356345
|
0.00006
|
NM_006096.4(NDRG1):c.537+18C>T
|
rs779638529
|
0.00006
|
NM_006096.4(NDRG1):c.704G>A (p.Arg235His)
|
rs748331213
|
0.00006
|
NM_006096.4(NDRG1):c.804C>T (p.Ala268=)
|
rs754704497
|
0.00006
|
NM_006096.4(NDRG1):c.999C>T (p.Ser333=)
|
rs201505193
|
0.00006
|
NM_014845.6(FIG4):c.1187C>G (p.Ala396Gly)
|
rs758599286
|
0.00006
|
NM_014845.6(FIG4):c.1544T>C (p.Ile515Thr)
|
rs370249754
|
0.00006
|
NM_014845.6(FIG4):c.1880C>A (p.Thr627Lys)
|
rs770831509
|
0.00006
|
NM_014845.6(FIG4):c.1890-4A>G
|
rs376586317
|
0.00006
|
NM_014845.6(FIG4):c.2052C>T (p.Ser684=)
|
rs183958565
|
0.00006
|
NM_014845.6(FIG4):c.2154A>G (p.Pro718=)
|
rs201138266
|
0.00006
|
NM_014845.6(FIG4):c.535C>T (p.Leu179Phe)
|
rs141116831
|
0.00006
|
NM_014845.6(FIG4):c.54T>C (p.Tyr18=)
|
rs746307320
|
0.00006
|
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
|
rs565096937
|
0.00006
|
NM_014845.6(FIG4):c.66+8C>T
|
rs768404941
|
0.00006
|
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter)
|
rs774294963
|
0.00006
|
NM_014845.6(FIG4):c.923C>T (p.Ala308Val)
|
rs180689715
|
0.00006
|
NM_016156.6(MTMR2):c.1395C>T (p.Gly465=)
|
rs369925329
|
0.00006
|
NM_016156.6(MTMR2):c.1402G>C (p.Asp468His)
|
rs142460913
|
0.00006
|
NM_016156.6(MTMR2):c.1431G>A (p.Ser477=)
|
rs200285624
|
0.00006
|
NM_016156.6(MTMR2):c.1461C>T (p.Val487=)
|
rs372932127
|
0.00006
|
NM_016156.6(MTMR2):c.14C>G (p.Ser5Trp)
|
rs778430688
|
0.00006
|
NM_016156.6(MTMR2):c.993+20A>T
|
rs373288455
|
0.00006
|
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)
|
rs112786851
|
0.00006
|
NM_018972.4(GDAP1):c.694+5G>A
|
rs752550394
|
0.00006
|
NM_018972.4(GDAP1):c.720C>T (p.Cys240=)
|
rs367790253
|
0.00006
|
NM_018972.4(GDAP1):c.810C>T (p.Asn270=)
|
rs144111413
|
0.00006
|
NM_018972.4(GDAP1):c.885T>C (p.His295=)
|
rs752758036
|
0.00006
|
NM_018972.4(GDAP1):c.90T>C (p.His30=)
|
rs555369956
|
0.00006
|
NM_024577.4(SH3TC2):c.1401C>T (p.Phe467=)
|
rs150950962
|
0.00006
|
NM_024577.4(SH3TC2):c.1529A>C (p.Tyr510Ser)
|
rs757294130
|
0.00006
|
NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser)
|
rs201256776
|
0.00006
|
NM_024577.4(SH3TC2):c.1814G>A (p.Arg605His)
|
rs186864272
|
0.00006
|
NM_024577.4(SH3TC2):c.1921C>T (p.Arg641Cys)
|
rs752002618
|
0.00006
|
NM_024577.4(SH3TC2):c.2215A>G (p.Met739Val)
|
rs146707871
|
0.00006
|
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn)
|
rs375034766
|
0.00006
|
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=)
|
rs574669908
|
0.00006
|
NM_024577.4(SH3TC2):c.3035G>A (p.Arg1012Gln)
|
rs140666774
|
0.00006
|
NM_024577.4(SH3TC2):c.3077G>A (p.Cys1026Tyr)
|
rs367656036
|
0.00006
|
NM_024577.4(SH3TC2):c.3094C>T (p.Arg1032Cys)
|
rs375603885
|
0.00006
|
NM_024577.4(SH3TC2):c.3287A>G (p.Asn1096Ser)
|
rs768331573
|
0.00006
|
NM_024577.4(SH3TC2):c.3676-9C>T
|
rs748694034
|
0.00006
|
NM_024577.4(SH3TC2):c.3835C>T (p.Arg1279Trp)
|
rs536334280
|
0.00006
|
NM_024577.4(SH3TC2):c.3847G>C (p.Gly1283Arg)
|
rs370844006
|
0.00006
|
NM_024577.4(SH3TC2):c.44G>A (p.Arg15Gln)
|
rs758276468
|
0.00006
|
NM_024577.4(SH3TC2):c.542G>T (p.Cys181Phe)
|
rs761372346
|
0.00006
|
NM_024577.4(SH3TC2):c.805+9G>A
|
rs143808719
|
0.00006
|
NM_030962.4(SBF2):c.1894G>A (p.Ala632Thr)
|
rs1386270581
|
0.00006
|
NM_030962.4(SBF2):c.2424T>A (p.Asn808Lys)
|
rs146868794
|
0.00006
|
NM_030962.4(SBF2):c.2451G>T (p.Arg817=)
|
rs775803946
|
0.00006
|
NM_030962.4(SBF2):c.2598G>A (p.Pro866=)
|
rs376372877
|
0.00006
|
NM_030962.4(SBF2):c.3006G>T (p.Lys1002Asn)
|
rs572884226
|
0.00006
|
NM_030962.4(SBF2):c.3617T>C (p.Val1206Ala)
|
rs766573319
|
0.00006
|
NM_030962.4(SBF2):c.3812G>A (p.Arg1271His)
|
rs201249004
|
0.00006
|
NM_030962.4(SBF2):c.3877A>G (p.Lys1293Glu)
|
rs200594508
|
0.00006
|
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala)
|
rs147350002
|
0.00006
|
NM_030962.4(SBF2):c.4687T>C (p.Leu1563=)
|
rs563878786
|
0.00006
|
NM_030962.4(SBF2):c.4698+7dup
|
rs1193706918
|
0.00006
|
NM_030962.4(SBF2):c.5469T>C (p.Arg1823=)
|
rs373457270
|
0.00006
|
NM_181882.3(PRX):c.1100C>A (p.Ala367Asp)
|
rs143400291
|
0.00006
|
NM_181882.3(PRX):c.1402G>A (p.Val468Met)
|
rs763489447
|
0.00006
|
NM_181882.3(PRX):c.1479G>C (p.Glu493Asp)
|
rs367946424
|
0.00006
|
NM_181882.3(PRX):c.1500A>G (p.Ser500=)
|
rs777104457
|
0.00006
|
NM_181882.3(PRX):c.154C>A (p.Pro52Thr)
|
rs1012350923
|
0.00006
|
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys)
|
rs537664679
|
0.00006
|
NM_181882.3(PRX):c.1979C>T (p.Pro660Leu)
|
rs748737580
|
0.00006
|
NM_181882.3(PRX):c.2056C>A (p.Pro686Thr)
|
rs374232032
|
0.00006
|
NM_181882.3(PRX):c.2082C>G (p.Pro694=)
|
rs1256959994
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_181882.3(PRX):c.21T>C (p.Ser7=)
|
rs553845309
|
0.00006
|
NM_181882.3(PRX):c.2296G>A (p.Val766Met)
|
rs763619423
|
0.00006
|
NM_181882.3(PRX):c.3799G>A (p.Gly1267Arg)
|
rs542711361
|
0.00006
|
NM_181882.3(PRX):c.3832G>A (p.Asp1278Asn)
|
rs377639106
|
0.00006
|
NM_181882.3(PRX):c.3886G>C (p.Gly1296Arg)
|
rs769014032
|
0.00006
|
NM_181882.3(PRX):c.4112G>A (p.Arg1371Gln)
|
rs377009047
|
0.00006
|
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala)
|
rs146468976
|
0.00006
|
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)
|
rs368827070
|
0.00006
|
NM_181882.3(PRX):c.4317C>T (p.Ser1439=)
|
rs372280596
|
0.00006
|
NM_181882.3(PRX):c.468C>T (p.Val156=)
|
rs543875999
|
0.00006
|
NM_181882.3(PRX):c.597C>T (p.Ala199=)
|
rs144157275
|
0.00006
|
NM_181882.3(PRX):c.727G>A (p.Gly243Arg)
|
rs774726424
|
0.00006
|
NM_181882.3(PRX):c.839C>T (p.Pro280Leu)
|
rs557355077
|
0.00006
|
NM_181882.3(PRX):c.992C>T (p.Pro331Leu)
|
rs566629777
|
0.00006
|
NM_001370298.3(FGD4):c.1409A>G (p.Gln470Arg)
|
rs200149526
|
0.00005
|
NM_001370298.3(FGD4):c.1602+13C>T
|
rs557373932
|
0.00005
|
NM_001370298.3(FGD4):c.2436C>T (p.Tyr812=)
|
rs528628927
|
0.00005
|
NM_006096.4(NDRG1):c.69C>A (p.Ile23=)
|
rs369862936
|
0.00005
|
NM_006096.4(NDRG1):c.944-8T>C
|
rs1274268124
|
0.00005
|
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys)
|
rs368625871
|
0.00005
|
NM_014845.6(FIG4):c.1341T>C (p.Phe447=)
|
rs199651811
|
0.00005
|
NM_014845.6(FIG4):c.1435-8C>T
|
rs754607430
|
0.00005
|
NM_014845.6(FIG4):c.1584-19C>T
|
rs1052424090
|
0.00005
|
NM_014845.6(FIG4):c.1890-17T>A
|
rs201890605
|
0.00005
|
NM_014845.6(FIG4):c.2096+3A>G
|
rs374223402
|
0.00005
|
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys)
|
rs372846619
|
0.00005
|
NM_014845.6(FIG4):c.2376+8G>A
|
rs779457828
|
0.00005
|
NM_014845.6(FIG4):c.53A>G (p.Tyr18Cys)
|
rs762687855
|
0.00005
|
NM_014845.6(FIG4):c.584A>T (p.Gln195Leu)
|
rs749696803
|
0.00005
|
NM_014845.6(FIG4):c.669G>A (p.Glu223=)
|
rs764559318
|
0.00005
|
NM_014845.6(FIG4):c.829A>T (p.Ser277Cys)
|
rs892208077
|
0.00005
|
NM_016156.6(MTMR2):c.1386+13C>A
|
rs377431314
|
0.00005
|
NM_016156.6(MTMR2):c.1551C>T (p.Phe517=)
|
rs775961979
|
0.00005
|
NM_016156.6(MTMR2):c.54G>A (p.Arg18=)
|
rs372164252
|
0.00005
|
NM_016156.6(MTMR2):c.629A>G (p.Asp210Gly)
|
rs753316100
|
0.00005
|
NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr)
|
rs879253940
|
0.00005
|
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)
|
rs140811185
|
0.00005
|
NM_024577.4(SH3TC2):c.1653C>T (p.Phe551=)
|
rs538871220
|
0.00005
|
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp)
|
rs530824367
|
0.00005
|
NM_024577.4(SH3TC2):c.2342G>T (p.Ser781Ile)
|
rs201934740
|
0.00005
|
NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val)
|
rs377372640
|
0.00005
|
NM_024577.4(SH3TC2):c.3053+16G>C
|
rs763241330
|
0.00005
|
NM_024577.4(SH3TC2):c.814C>T (p.Arg272Cys)
|
rs146143252
|
0.00005
|
NM_024577.4(SH3TC2):c.935C>T (p.Ser312Leu)
|
rs151205080
|
0.00005
|
NM_030962.4(SBF2):c.1210C>T (p.Leu404Phe)
|
rs764058215
|
0.00005
|
NM_030962.4(SBF2):c.2536+16A>G
|
rs200967111
|
0.00005
|
NM_030962.4(SBF2):c.2593C>A (p.Leu865Ile)
|
rs371380984
|
0.00005
|
NM_030962.4(SBF2):c.2954A>T (p.Asp985Val)
|
rs143883319
|
0.00005
|
NM_030962.4(SBF2):c.3758C>T (p.Thr1253Ile)
|
rs368392902
|
0.00005
|
NM_030962.4(SBF2):c.4039C>T (p.Arg1347Trp)
|
rs750938785
|
0.00005
|
NM_030962.4(SBF2):c.4263A>G (p.Thr1421=)
|
rs368381654
|
0.00005
|
NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe)
|
rs148988271
|
0.00005
|
NM_030962.4(SBF2):c.4638C>T (p.Asp1546=)
|
rs756538097
|
0.00005
|
NM_181882.3(PRX):c.1090C>T (p.Arg364Ter)
|
rs144183238
|
0.00005
|
NM_181882.3(PRX):c.1837G>A (p.Val613Met)
|
rs773222045
|
0.00005
|
NM_181882.3(PRX):c.2164A>G (p.Met722Val)
|
rs376309142
|
0.00005
|
NM_181882.3(PRX):c.2340G>A (p.Pro780=)
|
rs147618050
|
0.00005
|
NM_181882.3(PRX):c.2373G>C (p.Gln791His)
|
rs764404206
|
0.00005
|
NM_181882.3(PRX):c.237C>T (p.Asp79=)
|
rs376174896
|
0.00005
|
NM_181882.3(PRX):c.2468C>T (p.Ala823Val)
|
rs780212559
|
0.00005
|
NM_181882.3(PRX):c.296C>G (p.Thr99Ser)
|
rs561203828
|
0.00005
|
NM_181882.3(PRX):c.3238C>T (p.Arg1080Cys)
|
rs200045096
|
0.00005
|
NM_181882.3(PRX):c.3239G>A (p.Arg1080His)
|
rs762213719
|
0.00005
|
NM_181882.3(PRX):c.3288C>A (p.Ile1096=)
|
rs375122789
|
0.00005
|
NM_181882.3(PRX):c.3422C>T (p.Ala1141Val)
|
rs201233076
|
0.00005
|
NM_181882.3(PRX):c.3809G>A (p.Arg1270His)
|
rs775221457
|
0.00005
|
NM_181882.3(PRX):c.4231C>T (p.Arg1411Cys)
|
rs533966999
|
0.00005
|
NM_181882.3(PRX):c.4244_4246dup (p.Val1415_Ser1416insLeu)
|
rs771234852
|
0.00005
|
NM_181882.3(PRX):c.4376C>T (p.Ala1459Val)
|
rs373051724
|
0.00005
|
NM_181882.3(PRX):c.642C>A (p.Pro214=)
|
rs551628239
|
0.00005
|
NM_181882.3(PRX):c.683G>A (p.Arg228His)
|
rs562108874
|
0.00005
|
NM_181882.3(PRX):c.848T>G (p.Val283Gly)
|
rs776556523
|
0.00005
|
NM_181882.3(PRX):c.870C>A (p.Ile290=)
|
rs758097995
|
0.00005
|
NM_001370298.3(FGD4):c.1402del (p.Gln468fs)
|
rs1393673267
|
0.00004
|
NM_001370298.3(FGD4):c.1749+13G>A
|
rs373049957
|
0.00004
|
NM_001370298.3(FGD4):c.1809A>T (p.Thr603=)
|
rs1220106574
|
0.00004
|
NM_001370298.3(FGD4):c.1922+11C>T
|
rs765969178
|
0.00004
|
NM_001370298.3(FGD4):c.2046+10A>G
|
rs374150424
|
0.00004
|
NM_001370298.3(FGD4):c.2518G>A (p.Ala840Thr)
|
rs145630882
|
0.00004
|
NM_001370298.3(FGD4):c.433T>C (p.Ser145Pro)
|
rs369365466
|
0.00004
|
NM_001370298.3(FGD4):c.472T>C (p.Ser158Pro)
|
rs989660324
|
0.00004
|
NM_001370298.3(FGD4):c.546G>A (p.Val182=)
|
rs148304644
|
0.00004
|
NM_001370298.3(FGD4):c.831A>C (p.Ala277=)
|
rs529268397
|
0.00004
|
NM_006096.4(NDRG1):c.1082G>A (p.Arg361His)
|
rs754767167
|
0.00004
|
NM_006096.4(NDRG1):c.109A>T (p.Ile37Phe)
|
rs200046476
|
0.00004
|
NM_006096.4(NDRG1):c.1155C>T (p.Ala385=)
|
rs774605205
|
0.00004
|
NM_006096.4(NDRG1):c.304G>A (p.Gly102Ser)
|
rs200433822
|
0.00004
|
NM_006096.4(NDRG1):c.492C>T (p.Asn164=)
|
rs183043224
|
0.00004
|
NM_006096.4(NDRG1):c.594+9C>T
|
rs373172944
|
0.00004
|
NM_006096.4(NDRG1):c.698+9A>G
|
rs754728870
|
0.00004
|
NM_006096.4(NDRG1):c.72C>T (p.Thr24=)
|
rs551078982
|
0.00004
|
NM_014845.6(FIG4):c.1040-4T>C
|
rs374343214
|
0.00004
|
NM_014845.6(FIG4):c.1091T>A (p.Met364Lys)
|
rs772677048
|
0.00004
|
NM_014845.6(FIG4):c.1158T>C (p.His386=)
|
rs370557879
|
0.00004
|
NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu)
|
rs769415369
|
0.00004
|
NM_014845.6(FIG4):c.1386A>G (p.Glu462=)
|
rs764699770
|
0.00004
|
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg)
|
rs201742496
|
0.00004
|
NM_014845.6(FIG4):c.15C>T (p.Ala5=)
|
rs917052197
|
0.00004
|
NM_014845.6(FIG4):c.1601A>G (p.Tyr534Cys)
|
rs749672655
|
0.00004
|
NM_014845.6(FIG4):c.2080A>G (p.Met694Val)
|
rs143531641
|
0.00004
|
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys)
|
rs764799053
|
0.00004
|
NM_014845.6(FIG4):c.2147G>A (p.Arg716His)
|
rs758496638
|
0.00004
|
NM_014845.6(FIG4):c.2180+20C>T
|
rs372359387
|
0.00004
|
NM_014845.6(FIG4):c.2199A>G (p.Glu733=)
|
rs537464083
|
0.00004
|
NM_014845.6(FIG4):c.2323C>T (p.Arg775Cys)
|
rs745511182
|
0.00004
|
NM_014845.6(FIG4):c.2352A>G (p.Ala784=)
|
rs765278422
|
0.00004
|
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)
|
rs753207473
|
0.00004
|
NM_014845.6(FIG4):c.266C>T (p.Ala89Val)
|
rs763532414
|
0.00004
|
NM_014845.6(FIG4):c.2704A>G (p.Ile902Val)
|
rs143685038
|
0.00004
|
NM_014845.6(FIG4):c.33G>C (p.Ser11=)
|
rs527523781
|
0.00004
|
NM_014845.6(FIG4):c.422G>A (p.Arg141Gln)
|
rs762663195
|
0.00004
|
NM_014845.6(FIG4):c.446+4T>A
|
rs956953729
|
0.00004
|
NM_014845.6(FIG4):c.446+5G>C
|
rs370857139
|
0.00004
|
NM_014845.6(FIG4):c.794G>A (p.Arg265Gln)
|
rs768713956
|
0.00004
|
NM_016156.6(MTMR2):c.1479+17A>G
|
rs760613129
|
0.00004
|
NM_016156.6(MTMR2):c.186+9A>G
|
rs371081575
|
0.00004
|
NM_016156.6(MTMR2):c.262+4C>T
|
rs760282236
|
0.00004
|
NM_016156.6(MTMR2):c.35C>T (p.Ser12Phe)
|
rs755619139
|
0.00004
|
NM_016156.6(MTMR2):c.447T>C (p.Tyr149=)
|
rs776023078
|
0.00004
|
NM_016156.6(MTMR2):c.655-8A>G
|
rs768562214
|
0.00004
|
NM_016156.6(MTMR2):c.80+7A>G
|
rs1376851490
|
0.00004
|
NM_018972.4(GDAP1):c.1045T>C (p.Leu349=)
|
rs368943246
|
0.00004
|
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala)
|
rs371138642
|
0.00004
|
NM_018972.4(GDAP1):c.39C>T (p.Pro13=)
|
rs143063749
|
0.00004
|
NM_018972.4(GDAP1):c.579+9A>G
|
rs768849850
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)
|
rs775622226
|
0.00004
|
NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp)
|
rs538389475
|
0.00004
|
NM_024577.4(SH3TC2):c.1177+9C>T
|
rs375581325
|
0.00004
|
NM_024577.4(SH3TC2):c.1239C>T (p.Ala413=)
|
rs199756080
|
0.00004
|
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys)
|
rs768012192
|
0.00004
|
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=)
|
rs372749343
|
0.00004
|
NM_024577.4(SH3TC2):c.181C>T (p.Arg61Cys)
|
rs773087313
|
0.00004
|
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=)
|
rs143197881
|
0.00004
|
NM_024577.4(SH3TC2):c.1901G>C (p.Arg634Thr)
|
rs1293958398
|
0.00004
|
NM_024577.4(SH3TC2):c.1922G>A (p.Arg641His)
|
rs199991156
|
0.00004
|
NM_024577.4(SH3TC2):c.2323G>A (p.Gly775Ser)
|
rs559578990
|
0.00004
|
NM_024577.4(SH3TC2):c.2449G>T (p.Asp817Tyr)
|
rs373153093
|
0.00004
|
NM_024577.4(SH3TC2):c.2574C>T (p.Ser858=)
|
rs200772521
|
0.00004
|
NM_024577.4(SH3TC2):c.265C>T (p.Arg89Cys)
|
rs142488510
|
0.00004
|
NM_024577.4(SH3TC2):c.2858A>C (p.His953Pro)
|
rs369278337
|
0.00004
|
NM_024577.4(SH3TC2):c.302G>A (p.Ser101Asn)
|
rs199603042
|
0.00004
|
NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=)
|
rs768044718
|
0.00004
|
NM_024577.4(SH3TC2):c.3168C>T (p.Leu1056=)
|
rs200795092
|
0.00004
|
NM_024577.4(SH3TC2):c.3177A>G (p.Glu1059=)
|
rs766282582
|
0.00004
|
NM_024577.4(SH3TC2):c.3180C>T (p.Asp1060=)
|
rs780060168
|
0.00004
|
NM_024577.4(SH3TC2):c.32G>A (p.Arg11Gln)
|
rs558800325
|
0.00004
|
NM_024577.4(SH3TC2):c.3360G>A (p.Lys1120=)
|
rs967171497
|
0.00004
|
NM_024577.4(SH3TC2):c.3479-20C>T
|
rs376784930
|
0.00004
|
NM_024577.4(SH3TC2):c.3610A>G (p.Lys1204Glu)
|
rs571409696
|
0.00004
|
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg)
|
rs143436632
|
0.00004
|
NM_024577.4(SH3TC2):c.3675+5G>C
|
rs1302647300
|
0.00004
|
NM_024577.4(SH3TC2):c.3736G>A (p.Asp1246Asn)
|
rs753142542
|
0.00004
|
NM_024577.4(SH3TC2):c.806-11A>G
|
rs904258121
|
0.00004
|
NM_024577.4(SH3TC2):c.86C>T (p.Ser29Leu)
|
rs559570623
|
0.00004
|
NM_024577.4(SH3TC2):c.882C>T (p.Ser294=)
|
rs200091368
|
0.00004
|
NM_030962.4(SBF2):c.1067G>A (p.Arg356Gln)
|
rs188588431
|
0.00004
|
NM_030962.4(SBF2):c.129G>A (p.Gln43=)
|
rs761285505
|
0.00004
|
NM_030962.4(SBF2):c.136G>C (p.Glu46Gln)
|
rs878855130
|
0.00004
|
NM_030962.4(SBF2):c.1396-6T>C
|
rs369973804
|
0.00004
|
NM_030962.4(SBF2):c.1559G>A (p.Arg520Gln)
|
rs546485749
|
0.00004
|
NM_030962.4(SBF2):c.1569G>A (p.Lys523=)
|
rs776951161
|
0.00004
|
NM_030962.4(SBF2):c.1601-20T>C
|
rs200518136
|
0.00004
|
NM_030962.4(SBF2):c.1929+7T>C
|
rs777170105
|
0.00004
|
NM_030962.4(SBF2):c.2164C>T (p.Arg722Cys)
|
rs753111342
|
0.00004
|
NM_030962.4(SBF2):c.2183G>C (p.Ser728Thr)
|
rs751653396
|
0.00004
|
NM_030962.4(SBF2):c.2787A>T (p.Gly929=)
|
rs777826645
|
0.00004
|
NM_030962.4(SBF2):c.2883G>C (p.Gln961His)
|
rs768147206
|
0.00004
|
NM_030962.4(SBF2):c.2891A>G (p.Gln964Arg)
|
rs747309148
|
0.00004
|
NM_030962.4(SBF2):c.3087G>A (p.Gln1029=)
|
rs775337881
|
0.00004
|
NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val)
|
rs142891020
|
0.00004
|
NM_030962.4(SBF2):c.3169C>T (p.Arg1057Trp)
|
rs536949808
|
0.00004
|
NM_030962.4(SBF2):c.3283A>G (p.Ser1095Gly)
|
rs2942402
|
0.00004
|
NM_030962.4(SBF2):c.3582C>T (p.Leu1194=)
|
rs201514622
|
0.00004
|
NM_030962.4(SBF2):c.3845C>T (p.Ser1282Phe)
|
rs1442358051
|
0.00004
|
NM_030962.4(SBF2):c.3865C>T (p.Arg1289Trp)
|
rs145107442
|
0.00004
|
NM_030962.4(SBF2):c.4038C>G (p.Ile1346Met)
|
rs752638300
|
0.00004
|
NM_030962.4(SBF2):c.4101T>G (p.Thr1367=)
|
rs766353139
|
0.00004
|
NM_030962.4(SBF2):c.4127C>T (p.Ala1376Val)
|
rs922840746
|
0.00004
|
NM_030962.4(SBF2):c.4523G>A (p.Arg1508His)
|
rs770619905
|
0.00004
|
NM_030962.4(SBF2):c.5254_5255insTTAT (p.Lys1752fs)
|
rs1064793771
|
0.00004
|
NM_030962.4(SBF2):c.5451+10_5451+13dup
|
rs1064795190
|
0.00004
|
NM_030962.4(SBF2):c.5493T>C (p.Asp1831=)
|
rs779051883
|
0.00004
|
NM_030962.4(SBF2):c.798A>G (p.Leu266=)
|
rs138122773
|
0.00004
|
NM_030962.4(SBF2):c.810G>A (p.Thr270=)
|
rs769963369
|
0.00004
|
NM_181882.3(PRX):c.1103G>A (p.Arg368Gln)
|
rs758888846
|
0.00004
|
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser)
|
rs150244426
|
0.00004
|
NM_181882.3(PRX):c.1282G>A (p.Gly428Arg)
|
rs151110565
|
0.00004
|
NM_181882.3(PRX):c.1391G>A (p.Arg464Gln)
|
rs553211374
|
0.00004
|
NM_181882.3(PRX):c.1645C>T (p.Pro549Ser)
|
rs1397900999
|
0.00004
|
NM_181882.3(PRX):c.1936G>A (p.Glu646Lys)
|
rs750625856
|
0.00004
|
NM_181882.3(PRX):c.2100C>T (p.Ala700=)
|
rs757528702
|
0.00004
|
NM_181882.3(PRX):c.2243C>T (p.Pro748Leu)
|
rs111252437
|
0.00004
|
NM_181882.3(PRX):c.2260C>T (p.Arg754Trp)
|
rs372473354
|
0.00004
|
NM_181882.3(PRX):c.2464G>A (p.Glu822Lys)
|
rs772009400
|
0.00004
|
NM_181882.3(PRX):c.2620G>A (p.Ala874Thr)
|
rs145790961
|
0.00004
|
NM_181882.3(PRX):c.2677G>A (p.Glu893Lys)
|
rs201270794
|
0.00004
|
NM_181882.3(PRX):c.2690G>A (p.Arg897Gln)
|
rs752531623
|
0.00004
|
NM_181882.3(PRX):c.2715C>A (p.Thr905=)
|
rs188765166
|
0.00004
|
NM_181882.3(PRX):c.2730C>T (p.Ala910=)
|
rs878855283
|
0.00004
|
NM_181882.3(PRX):c.2731G>A (p.Val911Met)
|
rs377457671
|
0.00004
|
NM_181882.3(PRX):c.286C>T (p.Leu96=)
|
rs149325913
|
0.00004
|
NM_181882.3(PRX):c.3237T>C (p.Asp1079=)
|
rs774823527
|
0.00004
|
NM_181882.3(PRX):c.3352G>A (p.Val1118Ile)
|
rs143654708
|
0.00004
|
NM_181882.3(PRX):c.3768G>T (p.Val1256=)
|
rs367862999
|
0.00004
|
NM_181882.3(PRX):c.3775G>A (p.Glu1259Lys)
|
rs751742049
|
0.00004
|
NM_181882.3(PRX):c.3845C>T (p.Ser1282Leu)
|
rs753530396
|
0.00004
|
NM_181882.3(PRX):c.3852C>T (p.Ser1284=)
|
rs567324732
|
0.00004
|
NM_181882.3(PRX):c.3906C>A (p.His1302Gln)
|
rs756103463
|
0.00004
|
NM_181882.3(PRX):c.4130G>A (p.Arg1377His)
|
rs200835105
|
0.00004
|
NM_181882.3(PRX):c.4301G>A (p.Arg1434Gln)
|
rs759435622
|
0.00004
|
NM_181882.3(PRX):c.4333A>G (p.Thr1445Ala)
|
rs368067072
|
0.00004
|
NM_181882.3(PRX):c.4349C>T (p.Pro1450Leu)
|
rs369949312
|
0.00004
|
NM_181882.3(PRX):c.4377G>A (p.Ala1459=)
|
rs377062046
|
0.00004
|
NM_181882.3(PRX):c.466G>A (p.Val156Ile)
|
rs562267802
|
0.00004
|
NM_181882.3(PRX):c.624C>T (p.Ala208=)
|
rs777019611
|
0.00004
|
NM_181882.3(PRX):c.625G>A (p.Ala209Thr)
|
rs769143653
|
0.00004
|
NM_181882.3(PRX):c.747C>T (p.Pro249=)
|
rs3814289
|
0.00004
|
NM_181882.3(PRX):c.934C>T (p.Leu312=)
|
rs369792380
|
0.00004
|
NM_181882.3(PRX):c.943C>T (p.Arg315Trp)
|
rs763185527
|
0.00004
|
NM_001370298.3(FGD4):c.1338A>C (p.Ala446=)
|
rs1454504656
|
0.00003
|
NM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn)
|
rs781528826
|
0.00003
|
NM_001370298.3(FGD4):c.1842A>G (p.Lys614=)
|
rs1023207495
|
0.00003
|
NM_001370298.3(FGD4):c.1953+7C>T
|
rs1408854259
|
0.00003
|
NM_001370298.3(FGD4):c.1961A>G (p.Gln654Arg)
|
rs199546503
|
0.00003
|
NM_001370298.3(FGD4):c.1975G>A (p.Ala659Thr)
|
rs750531320
|
0.00003
|
NM_001370298.3(FGD4):c.2289A>C (p.Glu763Asp)
|
rs907657345
|
0.00003
|
NM_001370298.3(FGD4):c.2373G>A (p.Glu791=)
|
rs201822384
|
0.00003
|
NM_001370298.3(FGD4):c.2425C>G (p.Leu809Val)
|
rs187012686
|
0.00003
|
NM_001370298.3(FGD4):c.2512A>G (p.Arg838Gly)
|
rs756201273
|
0.00003
|
NM_001370298.3(FGD4):c.2644G>C (p.Gly882Arg)
|
rs775920519
|
0.00003
|
NM_001370298.3(FGD4):c.2652A>G (p.Pro884=)
|
rs1294353519
|
0.00003
|
NM_001370298.3(FGD4):c.461C>G (p.Pro154Arg)
|
rs371407163
|
0.00003
|
NM_001370298.3(FGD4):c.469G>A (p.Val157Ile)
|
rs755068251
|
0.00003
|
NM_001370298.3(FGD4):c.487C>T (p.Arg163Cys)
|
rs758603361
|
0.00003
|
NM_001370298.3(FGD4):c.953G>A (p.Arg318Lys)
|
rs750143546
|
0.00003
|
NM_006096.4(NDRG1):c.1062C>G (p.Ser354=)
|
rs560162089
|
0.00003
|
NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys)
|
rs530143616
|
0.00003
|
NM_006096.4(NDRG1):c.129T>C (p.Ser43=)
|
rs758024351
|
0.00003
|
NM_006096.4(NDRG1):c.14T>C (p.Met5Thr)
|
rs138555940
|
0.00003
|
NM_006096.4(NDRG1):c.167G>A (p.Arg56Gln)
|
rs151322132
|
0.00003
|
NM_006096.4(NDRG1):c.307G>A (p.Ala103Thr)
|
rs374160497
|
0.00003
|
NM_006096.4(NDRG1):c.342C>T (p.Ser114=)
|
rs368561195
|
0.00003
|
NM_006096.4(NDRG1):c.345G>T (p.Met115Ile)
|
rs1345503929
|
0.00003
|
NM_006096.4(NDRG1):c.373G>A (p.Val125Ile)
|
rs200593999
|
0.00003
|
NM_006096.4(NDRG1):c.42G>A (p.Lys14=)
|
rs753261868
|
0.00003
|
NM_006096.4(NDRG1):c.813G>A (p.Glu271=)
|
rs368468160
|
0.00003
|
NM_006096.4(NDRG1):c.892-4G>A
|
rs751360652
|
0.00003
|
NM_014845.6(FIG4):c.136C>T (p.Pro46Ser)
|
rs1260601343
|
0.00003
|
NM_014845.6(FIG4):c.14C>T (p.Ala5Val)
|
rs915749340
|
0.00003
|
NM_014845.6(FIG4):c.1949-7C>A
|
rs758167651
|
0.00003
|
NM_014845.6(FIG4):c.1990T>C (p.Phe664Leu)
|
rs370602258
|
0.00003
|
NM_014845.6(FIG4):c.2035C>T (p.Arg679Trp)
|
rs188910818
|
0.00003
|
NM_014845.6(FIG4):c.2146C>T (p.Arg716Cys)
|
rs139235893
|
0.00003
|
NM_014845.6(FIG4):c.2232C>T (p.Ser744=)
|
rs760578430
|
0.00003
|
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn)
|
rs377017892
|
0.00003
|
NM_014845.6(FIG4):c.2376+5G>A
|
rs528952794
|
0.00003
|
NM_014845.6(FIG4):c.2388A>G (p.Gln796=)
|
rs1439788451
|
0.00003
|
NM_014845.6(FIG4):c.243A>G (p.Lys81=)
|
rs200257799
|
0.00003
|
NM_014845.6(FIG4):c.2459+1G>A
|
rs747768373
|
0.00003
|
NM_014845.6(FIG4):c.2547-11A>G
|
rs745613994
|
0.00003
|
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu)
|
rs200970494
|
0.00003
|
NM_014845.6(FIG4):c.351G>A (p.Ala117=)
|
rs375963892
|
0.00003
|
NM_014845.6(FIG4):c.382G>A (p.Glu128Lys)
|
rs769125243
|
0.00003
|
NM_014845.6(FIG4):c.421C>T (p.Arg141Trp)
|
rs750102036
|
0.00003
|
NM_014845.6(FIG4):c.815T>C (p.Ile272Thr)
|
rs765737780
|
0.00003
|
NM_014845.6(FIG4):c.872G>A (p.Cys291Tyr)
|
rs766829595
|
0.00003
|
NM_014845.6(FIG4):c.919G>A (p.Asp307Asn)
|
rs573441014
|
0.00003
|
NM_016156.6(MTMR2):c.1190C>G (p.Ala397Gly)
|
rs145714734
|
0.00003
|
NM_016156.6(MTMR2):c.1386A>G (p.Leu462=)
|
rs139369561
|
0.00003
|
NM_016156.6(MTMR2):c.1523T>C (p.Ile508Thr)
|
rs769280444
|
0.00003
|
NM_016156.6(MTMR2):c.1851G>C (p.Glu617Asp)
|
rs369804894
|
0.00003
|
NM_016156.6(MTMR2):c.185G>A (p.Arg62Lys)
|
rs528638298
|
0.00003
|
NM_016156.6(MTMR2):c.230C>T (p.Pro77Leu)
|
rs377327553
|
0.00003
|
NM_016156.6(MTMR2):c.522C>T (p.Ser174=)
|
rs146014892
|
0.00003
|
NM_016156.6(MTMR2):c.655-19T>C
|
rs756828009
|
0.00003
|
NM_016156.6(MTMR2):c.960T>C (p.Asp320=)
|
rs776038747
|
0.00003
|
NM_018972.4(GDAP1):c.21G>A (p.Glu7=)
|
rs199612265
|
0.00003
|
NM_018972.4(GDAP1):c.501del (p.Glu168fs)
|
rs886041386
|
0.00003
|
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser)
|
rs533081002
|
0.00003
|
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter)
|
rs150989205
|
0.00003
|
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)
|
rs375431837
|
0.00003
|
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=)
|
rs201779392
|
0.00003
|
NM_024577.4(SH3TC2):c.1342G>C (p.Asp448His)
|
rs587781252
|
0.00003
|
NM_024577.4(SH3TC2):c.164C>T (p.Ser55Phe)
|
rs201291203
|
0.00003
|
NM_024577.4(SH3TC2):c.1654G>A (p.Glu552Lys)
|
rs551953142
|
0.00003
|
NM_024577.4(SH3TC2):c.1947C>T (p.His649=)
|
rs576049662
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.2023G>A (p.Val675Ile)
|
rs764633604
|
0.00003
|
NM_024577.4(SH3TC2):c.2056C>T (p.Pro686Ser)
|
rs767415595
|
0.00003
|
NM_024577.4(SH3TC2):c.2107G>A (p.Gly703Arg)
|
rs912282924
|
0.00003
|
NM_024577.4(SH3TC2):c.223C>T (p.Arg75Trp)
|
rs769679412
|
0.00003
|
NM_024577.4(SH3TC2):c.2254G>A (p.Asp752Asn)
|
rs749008572
|
0.00003
|
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp)
|
rs185149793
|
0.00003
|
NM_024577.4(SH3TC2):c.2373T>A (p.Gly791=)
|
rs187337223
|
0.00003
|
NM_024577.4(SH3TC2):c.2398C>T (p.Leu800Phe)
|
rs764616291
|
0.00003
|
NM_024577.4(SH3TC2):c.2551C>T (p.Arg851Trp)
|
rs144655516
|
0.00003
|
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)
|
rs80338931
|
0.00003
|
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=)
|
rs776221160
|
0.00003
|
NM_024577.4(SH3TC2):c.2861G>A (p.Arg954Gln)
|
rs776426059
|
0.00003
|
NM_024577.4(SH3TC2):c.2873-4T>A
|
rs771093927
|
0.00003
|
NM_024577.4(SH3TC2):c.2989C>T (p.Arg997Trp)
|
rs763331671
|
0.00003
|
NM_024577.4(SH3TC2):c.3312A>G (p.Ala1104=)
|
rs369131151
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_024577.4(SH3TC2):c.3363G>A (p.Ala1121=)
|
rs547035706
|
0.00003
|
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)
|
rs200728983
|
0.00003
|
NM_024577.4(SH3TC2):c.529+10G>A
|
rs768567281
|
0.00003
|
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)
|
rs202052720
|
0.00003
|
NM_024577.4(SH3TC2):c.908C>A (p.Pro303His)
|
rs778572329
|
0.00003
|
NM_024577.4(SH3TC2):c.929G>A (p.Gly310Glu)
|
rs763949764
|
0.00003
|
NM_030962.4(SBF2):c.1166A>G (p.Lys389Arg)
|
rs1490002752
|
0.00003
|
NM_030962.4(SBF2):c.1383A>G (p.Gln461=)
|
rs151036108
|
0.00003
|
NM_030962.4(SBF2):c.1573T>C (p.Cys525Arg)
|
rs746860317
|
0.00003
|
NM_030962.4(SBF2):c.190A>G (p.Thr64Ala)
|
rs374114606
|
0.00003
|
NM_030962.4(SBF2):c.2160A>G (p.Gln720=)
|
rs1247703447
|
0.00003
|
NM_030962.4(SBF2):c.2350A>G (p.Ile784Val)
|
rs758912920
|
0.00003
|
NM_030962.4(SBF2):c.2450G>A (p.Arg817Gln)
|
rs369653070
|
0.00003
|
NM_030962.4(SBF2):c.2457T>G (p.Ile819Met)
|
rs746363004
|
0.00003
|
NM_030962.4(SBF2):c.257A>G (p.Tyr86Cys)
|
rs745669920
|
0.00003
|
NM_030962.4(SBF2):c.258T>C (p.Tyr86=)
|
rs778681306
|
0.00003
|
NM_030962.4(SBF2):c.2611-18A>G
|
rs374144072
|
0.00003
|
NM_030962.4(SBF2):c.2789C>T (p.Thr930Ile)
|
rs755578344
|
0.00003
|
NM_030962.4(SBF2):c.2807-3C>T
|
rs375252298
|
0.00003
|
NM_030962.4(SBF2):c.3170G>A (p.Arg1057Gln)
|
rs138612196
|
0.00003
|
NM_030962.4(SBF2):c.3376A>T (p.Ile1126Leu)
|
rs747669195
|
0.00003
|
NM_030962.4(SBF2):c.3540G>C (p.Leu1180=)
|
rs766137744
|
0.00003
|
NM_030962.4(SBF2):c.3708A>G (p.Gln1236=)
|
rs1371647333
|
0.00003
|
NM_030962.4(SBF2):c.403-15T>G
|
rs887143579
|
0.00003
|
NM_030962.4(SBF2):c.403-8T>C
|
rs755029382
|
0.00003
|
NM_030962.4(SBF2):c.4107A>C (p.Ser1369=)
|
rs769205402
|
0.00003
|
NM_030962.4(SBF2):c.4733A>G (p.Lys1578Arg)
|
rs775360425
|
0.00003
|
NM_030962.4(SBF2):c.48G>A (p.Glu16=)
|
rs889453292
|
0.00003
|
NM_030962.4(SBF2):c.4970C>T (p.Pro1657Leu)
|
rs771021009
|
0.00003
|
NM_030962.4(SBF2):c.566A>G (p.His189Arg)
|
rs764000654
|
0.00003
|
NM_030962.4(SBF2):c.56G>T (p.Gly19Val)
|
rs375560902
|
0.00003
|
NM_030962.4(SBF2):c.600T>C (p.Ala200=)
|
rs770433606
|
0.00003
|
NM_030962.4(SBF2):c.832T>A (p.Ser278Thr)
|
rs746749228
|
0.00003
|
NM_030962.4(SBF2):c.898A>G (p.Ile300Val)
|
rs141669540
|
0.00003
|
NM_030962.4(SBF2):c.93T>C (p.Phe31=)
|
rs200263159
|
0.00003
|
NM_030962.4(SBF2):c.984C>T (p.His328=)
|
rs367717680
|
0.00003
|
NM_030962.4(SBF2):c.993G>A (p.Leu331=)
|
rs766193938
|
0.00003
|
NM_181882.3(PRX):c.1144C>G (p.Pro382Ala)
|
rs759440986
|
0.00003
|
NM_181882.3(PRX):c.1211G>A (p.Arg404Gln)
|
rs146948818
|
0.00003
|
NM_181882.3(PRX):c.1219G>T (p.Ala407Ser)
|
rs752941494
|
0.00003
|
NM_181882.3(PRX):c.1460C>T (p.Pro487Leu)
|
rs778936443
|
0.00003
|
NM_181882.3(PRX):c.1461G>A (p.Pro487=)
|
rs757009052
|
0.00003
|
NM_181882.3(PRX):c.1539G>A (p.Pro513=)
|
rs187786861
|
0.00003
|
NM_181882.3(PRX):c.1714G>A (p.Val572Met)
|
rs370979792
|
0.00003
|
NM_181882.3(PRX):c.1752G>C (p.Glu584Asp)
|
rs759029769
|
0.00003
|
NM_181882.3(PRX):c.1827C>T (p.Pro609=)
|
rs751816156
|
0.00003
|
NM_181882.3(PRX):c.1965G>A (p.Pro655=)
|
rs186171971
|
0.00003
|
NM_181882.3(PRX):c.2244G>A (p.Pro748=)
|
rs534322807
|
0.00003
|
NM_181882.3(PRX):c.2282C>T (p.Pro761Leu)
|
rs530370432
|
0.00003
|
NM_181882.3(PRX):c.2285A>G (p.Lys762Arg)
|
rs202165534
|
0.00003
|
NM_181882.3(PRX):c.2286G>A (p.Lys762=)
|
rs373111657
|
0.00003
|
NM_181882.3(PRX):c.2295C>T (p.Asp765=)
|
rs377360814
|
0.00003
|
NM_181882.3(PRX):c.2425C>T (p.Leu809=)
|
rs145272609
|
0.00003
|
NM_181882.3(PRX):c.2573A>G (p.Glu858Gly)
|
rs1017754371
|
0.00003
|
NM_181882.3(PRX):c.2649G>A (p.Glu883=)
|
rs747871484
|
0.00003
|
NM_181882.3(PRX):c.2775C>T (p.Val925=)
|
rs201792838
|
0.00003
|
NM_181882.3(PRX):c.2790G>C (p.Lys930Asn)
|
rs758614032
|
0.00003
|
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu)
|
rs761769929
|
0.00003
|
NM_181882.3(PRX):c.2850G>C (p.Gly950=)
|
rs770520776
|
0.00003
|
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)
|
rs104894714
|
0.00003
|
NM_181882.3(PRX):c.3041T>C (p.Leu1014Pro)
|
rs766119564
|
0.00003
|
NM_181882.3(PRX):c.3508G>A (p.Ala1170Thr)
|
rs759410504
|
0.00003
|
NM_181882.3(PRX):c.3587G>C (p.Gly1196Ala)
|
rs199640290
|
0.00003
|
NM_181882.3(PRX):c.3707C>T (p.Ala1236Val)
|
rs142501082
|
0.00003
|
NM_181882.3(PRX):c.3853G>A (p.Gly1285Arg)
|
rs374370759
|
0.00003
|
NM_181882.3(PRX):c.3866C>A (p.Ala1289Asp)
|
rs752531823
|
0.00003
|
NM_181882.3(PRX):c.3939G>A (p.Leu1313=)
|
rs140109585
|
0.00003
|
NM_181882.3(PRX):c.4121T>G (p.Val1374Gly)
|
rs773512610
|
0.00003
|
NM_181882.3(PRX):c.4124G>A (p.Arg1375Gln)
|
rs762053224
|
0.00003
|
NM_181882.3(PRX):c.4152G>A (p.Ala1384=)
|
rs756887163
|
0.00003
|
NM_181882.3(PRX):c.4157C>A (p.Pro1386His)
|
rs372582520
|
0.00003
|
NM_181882.3(PRX):c.4270G>C (p.Gly1424Arg)
|
rs754032938
|
0.00003
|
NM_181882.3(PRX):c.4318G>A (p.Val1440Met)
|
rs138437458
|
0.00003
|
NM_181882.3(PRX):c.4334C>T (p.Thr1445Ile)
|
rs746338096
|
0.00003
|
NM_181882.3(PRX):c.493C>T (p.Arg165Cys)
|
rs555499679
|
0.00003
|
NM_181882.3(PRX):c.559C>T (p.Arg187Cys)
|
rs768929130
|
0.00003
|
NM_181882.3(PRX):c.589G>T (p.Glu197Ter)
|
rs753857146
|
0.00003
|
NM_181882.3(PRX):c.639C>G (p.Pro213=)
|
rs1479088366
|
0.00003
|
NM_181882.3(PRX):c.716C>T (p.Pro239Leu)
|
rs528907584
|
0.00003
|
NM_181882.3(PRX):c.750G>A (p.Gln250=)
|
rs1184005539
|
0.00003
|
NM_181882.3(PRX):c.793G>A (p.Gly265Ser)
|
rs1298913150
|
0.00003
|
NM_181882.3(PRX):c.80C>A (p.Thr27Asn)
|
rs1291881750
|
0.00003
|
NM_181882.3(PRX):c.840G>A (p.Pro280=)
|
rs773272074
|
0.00003
|
NM_181882.3(PRX):c.847G>A (p.Val283Met)
|
rs535087433
|
0.00003
|
NM_181882.3(PRX):c.899T>C (p.Leu300Ser)
|
rs748380935
|
0.00003
|
NM_001370298.3(FGD4):c.1248-3C>A
|
rs755168497
|
0.00002
|
NM_001370298.3(FGD4):c.1263A>G (p.Arg421=)
|
rs773609461
|
0.00002
|
NM_001370298.3(FGD4):c.1339A>G (p.Met447Val)
|
rs368451193
|
0.00002
|
NM_001370298.3(FGD4):c.1463G>A (p.Arg488Gln)
|
rs138762438
|
0.00002
|
NM_001370298.3(FGD4):c.1536T>G (p.Asp512Glu)
|
rs778471949
|
0.00002
|
NM_001370298.3(FGD4):c.1612A>C (p.Lys538Gln)
|
rs749692745
|
0.00002
|
NM_001370298.3(FGD4):c.1657A>G (p.Ile553Val)
|
rs1060501903
|
0.00002
|
NM_001370298.3(FGD4):c.2067A>G (p.Arg689=)
|
rs1488014686
|
0.00002
|
NM_001370298.3(FGD4):c.2171A>G (p.Tyr724Cys)
|
rs759496422
|
0.00002
|
NM_001370298.3(FGD4):c.2172+8A>T
|
rs761674021
|
0.00002
|
NM_001370298.3(FGD4):c.2313+11T>C
|
rs200030176
|
0.00002
|
NM_001370298.3(FGD4):c.2429T>C (p.Val810Ala)
|
rs776258252
|
0.00002
|
NM_001370298.3(FGD4):c.431C>G (p.Ala144Gly)
|
rs1161650860
|
0.00002
|
NM_006096.4(NDRG1):c.100-3C>T
|
rs775475505
|
0.00002
|
NM_006096.4(NDRG1):c.1057C>T (p.Arg353Cys)
|
rs777244818
|
0.00002
|
NM_006096.4(NDRG1):c.1081C>T (p.Arg361Cys)
|
rs779065972
|
0.00002
|
NM_006096.4(NDRG1):c.1133C>T (p.Ser378Leu)
|
rs373815729
|
0.00002
|
NM_006096.4(NDRG1):c.1152C>T (p.Ser384=)
|
rs863224413
|
0.00002
|
NM_006096.4(NDRG1):c.1156G>A (p.Gly386Arg)
|
rs768918074
|
0.00002
|
NM_006096.4(NDRG1):c.1167C>T (p.Ser389=)
|
rs769654928
|
0.00002
|
NM_006096.4(NDRG1):c.141G>A (p.Thr47=)
|
rs750933446
|
0.00002
|
NM_006096.4(NDRG1):c.30C>T (p.Leu10=)
|
rs758205425
|
0.00002
|
NM_006096.4(NDRG1):c.321C>T (p.Pro107=)
|
rs1403681249
|
0.00002
|
NM_006096.4(NDRG1):c.352C>T (p.Leu118=)
|
rs559877336
|
0.00002
|
NM_006096.4(NDRG1):c.427G>A (p.Ala143Thr)
|
rs776830575
|
0.00002
|
NM_006096.4(NDRG1):c.451-8A>G
|
rs1306905217
|
0.00002
|
NM_006096.4(NDRG1):c.48G>A (p.Leu16=)
|
rs767603105
|
0.00002
|
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)
|
rs781381539
|
0.00002
|
NM_006096.4(NDRG1):c.595-5T>C
|
rs1418098888
|
0.00002
|
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
|
rs138285479
|
0.00002
|
NM_006096.4(NDRG1):c.635G>A (p.Arg212His)
|
rs931069567
|
0.00002
|
NM_006096.4(NDRG1):c.6T>G (p.Ser2=)
|
rs1195247473
|
0.00002
|
NM_006096.4(NDRG1):c.703C>T (p.Arg235Cys)
|
rs772268356
|
0.00002
|
NM_006096.4(NDRG1):c.705C>T (p.Arg235=)
|
rs528436514
|
0.00002
|
NM_006096.4(NDRG1):c.731C>T (p.Pro244Leu)
|
rs748984505
|
0.00002
|
NM_006096.4(NDRG1):c.808-6G>T
|
rs779633074
|
0.00002
|
NM_006096.4(NDRG1):c.861G>A (p.Ala287=)
|
rs150101908
|
0.00002
|
NM_006096.4(NDRG1):c.894G>A (p.Pro298=)
|
rs368061370
|
0.00002
|
NM_006096.4(NDRG1):c.904G>A (p.Ala302Thr)
|
rs373637595
|
0.00002
|
NM_014845.6(FIG4):c.107A>G (p.Tyr36Cys)
|
rs760770423
|
0.00002
|
NM_014845.6(FIG4):c.1313A>G (p.Glu438Gly)
|
rs535554973
|
0.00002
|
NM_014845.6(FIG4):c.1376G>A (p.Arg459Gln)
|
rs141309562
|
0.00002
|
NM_014845.6(FIG4):c.1427G>A (p.Arg476His)
|
rs192823053
|
0.00002
|
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys)
|
rs747284213
|
0.00002
|
NM_014845.6(FIG4):c.1482C>T (p.Asn494=)
|
rs776928002
|
0.00002
|
NM_014845.6(FIG4):c.1620C>T (p.Thr540=)
|
rs746367416
|
0.00002
|
NM_014845.6(FIG4):c.1728A>G (p.Arg576=)
|
rs1006163300
|
0.00002
|
NM_014845.6(FIG4):c.1769C>T (p.Ser590Phe)
|
rs773166475
|
0.00002
|
NM_014845.6(FIG4):c.1809G>A (p.Gly603=)
|
rs148280593
|
0.00002
|
NM_014845.6(FIG4):c.1932A>G (p.Pro644=)
|
rs767919652
|
0.00002
|
NM_014845.6(FIG4):c.1949-15C>T
|
rs778444771
|
0.00002
|
NM_014845.6(FIG4):c.2113A>G (p.Thr705Ala)
|
rs766031746
|
0.00002
|
NM_014845.6(FIG4):c.2377-10T>A
|
rs9481005
|
0.00002
|
NM_014845.6(FIG4):c.2405A>G (p.Tyr802Cys)
|
rs370293982
|
0.00002
|
NM_014845.6(FIG4):c.2449A>G (p.Ile817Val)
|
rs781056036
|
0.00002
|
NM_014845.6(FIG4):c.2547-4A>G
|
rs886060985
|
0.00002
|
NM_014845.6(FIG4):c.2599A>G (p.Arg867Gly)
|
rs533419433
|
0.00002
|
NM_014845.6(FIG4):c.2661dup (p.Gln888fs)
|
rs778839285
|
0.00002
|
NM_014845.6(FIG4):c.2668C>T (p.Leu890=)
|
rs922260214
|
0.00002
|
NM_014845.6(FIG4):c.2685C>T (p.Ser895=)
|
rs764459799
|
0.00002
|
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr)
|
rs764958115
|
0.00002
|
NM_014845.6(FIG4):c.2705T>C (p.Ile902Thr)
|
rs1162967341
|
0.00002
|
NM_014845.6(FIG4):c.289+17C>T
|
rs368282150
|
0.00002
|
NM_014845.6(FIG4):c.321T>G (p.Ile107Met)
|
rs372854425
|
0.00002
|
NM_014845.6(FIG4):c.366T>C (p.His122=)
|
rs772376305
|
0.00002
|
NM_014845.6(FIG4):c.447-14_447-13insG
|
rs1312654340
|
0.00002
|
NM_014845.6(FIG4):c.447-19T>C
|
rs1562651409
|
0.00002
|
NM_014845.6(FIG4):c.469G>A (p.Val157Met)
|
rs1455052760
|
0.00002
|
NM_014845.6(FIG4):c.497+9G>A
|
rs759409330
|
0.00002
|
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro)
|
rs587777713
|
0.00002
|
NM_014845.6(FIG4):c.645C>T (p.Ser215=)
|
rs751619327
|
0.00002
|
NM_014845.6(FIG4):c.731G>A (p.Arg244His)
|
rs768175169
|
0.00002
|
NM_014845.6(FIG4):c.809C>T (p.Thr270Ile)
|
rs762123072
|
0.00002
|
NM_014845.6(FIG4):c.877-2A>C
|
rs143956557
|
0.00002
|
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)
|
rs587777714
|
0.00002
|
NM_014845.6(FIG4):c.974G>C (p.Arg325Thr)
|
rs1060501400
|
0.00002
|
NM_016156.6(MTMR2):c.1101G>C (p.Lys367Asn)
|
rs747178197
|
0.00002
|
NM_016156.6(MTMR2):c.11G>C (p.Ser4Thr)
|
rs771823531
|
0.00002
|
NM_016156.6(MTMR2):c.1248T>C (p.His416=)
|
rs779618687
|
0.00002
|
NM_016156.6(MTMR2):c.1345G>A (p.Val449Met)
|
rs776520645
|
0.00002
|
NM_016156.6(MTMR2):c.1386+14C>T
|
rs756723447
|
0.00002
|
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro)
|
rs372095826
|
0.00002
|
NM_016156.6(MTMR2):c.1450A>G (p.Ile484Val)
|
rs886048771
|
0.00002
|
NM_016156.6(MTMR2):c.1479+12G>A
|
rs763917620
|
0.00002
|
NM_016156.6(MTMR2):c.1755A>T (p.Pro585=)
|
rs138036650
|
0.00002
|
NM_016156.6(MTMR2):c.1832T>C (p.Val611Ala)
|
rs1271455669
|
0.00002
|
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln)
|
rs371925152
|
0.00002
|
NM_016156.6(MTMR2):c.1870_1878dup (p.Ser624_Ser626dup)
|
rs748069614
|
0.00002
|
NM_016156.6(MTMR2):c.22G>A (p.Glu8Lys)
|
rs756912172
|
0.00002
|
NM_016156.6(MTMR2):c.297C>T (p.Gly99=)
|
rs772347980
|
0.00002
|
NM_016156.6(MTMR2):c.350T>C (p.Met117Thr)
|
rs752402777
|
0.00002
|
NM_016156.6(MTMR2):c.356G>A (p.Arg119Gln)
|
rs759086106
|
0.00002
|
NM_016156.6(MTMR2):c.403G>A (p.Val135Ile)
|
rs951220118
|
0.00002
|
NM_016156.6(MTMR2):c.485G>A (p.Arg162Gln)
|
rs756723587
|
0.00002
|
NM_016156.6(MTMR2):c.759A>C (p.Glu253Asp)
|
rs753939570
|
0.00002
|
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val)
|
rs887196115
|
0.00002
|
NM_018972.4(GDAP1):c.117+10G>A
|
rs371957814
|
0.00002
|
NM_018972.4(GDAP1):c.165T>C (p.Asp55=)
|
rs138538469
|
0.00002
|
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr)
|
rs751297226
|
0.00002
|
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln)
|
rs771810975
|
0.00002
|
NM_018972.4(GDAP1):c.389C>A (p.Ser130Tyr)
|
rs147295250
|
0.00002
|
NM_018972.4(GDAP1):c.513G>A (p.Leu171=)
|
rs778079435
|
0.00002
|
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
|
rs104894075
|
0.00002
|
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys)
|
rs762473236
|
0.00002
|
NM_018972.4(GDAP1):c.782T>C (p.Leu261Pro)
|
rs745398081
|
0.00002
|
NM_018972.4(GDAP1):c.915G>T (p.Leu305=)
|
rs745516657
|
0.00002
|
NM_024577.4(SH3TC2):c.100G>A (p.Ala34Thr)
|
rs1189763508
|
0.00002
|
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala)
|
rs772832716
|
0.00002
|
NM_024577.4(SH3TC2):c.1129C>T (p.Arg377Trp)
|
rs753775570
|
0.00002
|
NM_024577.4(SH3TC2):c.1136-12A>G
|
rs367677521
|
0.00002
|
NM_024577.4(SH3TC2):c.1178-3C>T
|
rs1380474010
|
0.00002
|
NM_024577.4(SH3TC2):c.1178-8C>T
|
rs202042438
|
0.00002
|
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His)
|
rs146997517
|
0.00002
|
NM_024577.4(SH3TC2):c.1284G>A (p.Glu428=)
|
rs367691494
|
0.00002
|
NM_024577.4(SH3TC2):c.1390G>A (p.Ala464Thr)
|
rs764054256
|
0.00002
|
NM_024577.4(SH3TC2):c.142A>G (p.Ile48Val)
|
rs543440112
|
0.00002
|
NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys)
|
rs778936762
|
0.00002
|
NM_024577.4(SH3TC2):c.1830G>A (p.Lys610=)
|
rs370025626
|
0.00002
|
NM_024577.4(SH3TC2):c.1843G>A (p.Val615Met)
|
rs577783066
|
0.00002
|
NM_024577.4(SH3TC2):c.1854C>T (p.Tyr618=)
|
rs1483284949
|
0.00002
|
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)
|
rs537049075
|
0.00002
|
NM_024577.4(SH3TC2):c.1968C>T (p.Ala656=)
|
rs114797709
|
0.00002
|
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925
|
0.00002
|
NM_024577.4(SH3TC2):c.2096A>T (p.Gln699Leu)
|
rs747615941
|
0.00002
|
NM_024577.4(SH3TC2):c.2258G>A (p.Arg753Gln)
|
rs755570739
|
0.00002
|
NM_024577.4(SH3TC2):c.2578C>T (p.Leu860Phe)
|
rs139958177
|
0.00002
|
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr)
|
rs779223727
|
0.00002
|
NM_024577.4(SH3TC2):c.2873-3C>T
|
rs749316605
|
0.00002
|
NM_024577.4(SH3TC2):c.2922C>T (p.Ser974=)
|
rs755319616
|
0.00002
|
NM_024577.4(SH3TC2):c.2950C>A (p.His984Asn)
|
rs747613156
|
0.00002
|
NM_024577.4(SH3TC2):c.2999A>C (p.Glu1000Ala)
|
rs192187328
|
0.00002
|
NM_024577.4(SH3TC2):c.3024G>A (p.Gly1008=)
|
rs771710493
|
0.00002
|
NM_024577.4(SH3TC2):c.3039C>A (p.Asn1013Lys)
|
rs753381949
|
0.00002
|
NM_024577.4(SH3TC2):c.3103A>G (p.Ile1035Val)
|
rs369953562
|
0.00002
|
NM_024577.4(SH3TC2):c.3190G>A (p.Glu1064Lys)
|
rs756108498
|
0.00002
|
NM_024577.4(SH3TC2):c.3205-7C>T
|
rs369262851
|
0.00002
|
NM_024577.4(SH3TC2):c.320C>A (p.Ala107Asp)
|
rs1371951870
|
0.00002
|
NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile)
|
rs199514987
|
0.00002
|
NM_024577.4(SH3TC2):c.330C>T (p.Leu110=)
|
rs1305286171
|
0.00002
|
NM_024577.4(SH3TC2):c.3457G>T (p.Ala1153Ser)
|
rs778351829
|
0.00002
|
NM_024577.4(SH3TC2):c.3479-5C>T
|
rs768321650
|
0.00002
|
NM_024577.4(SH3TC2):c.3503C>T (p.Ala1168Val)
|
rs372797350
|
0.00002
|
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)
|
rs758669363
|
0.00002
|
NM_024577.4(SH3TC2):c.3683A>G (p.His1228Arg)
|
rs1163101801
|
0.00002
|
NM_024577.4(SH3TC2):c.3722C>T (p.Ala1241Val)
|
rs141712019
|
0.00002
|
NM_024577.4(SH3TC2):c.3757A>G (p.Ile1253Val)
|
rs147931490
|
0.00002
|
NM_024577.4(SH3TC2):c.3833C>T (p.Ala1278Val)
|
rs374516818
|
0.00002
|
NM_024577.4(SH3TC2):c.436C>T (p.Leu146Phe)
|
rs755754277
|
0.00002
|
NM_024577.4(SH3TC2):c.442T>G (p.Cys148Gly)
|
rs748071430
|
0.00002
|
NM_024577.4(SH3TC2):c.530-12C>T
|
rs374788786
|
0.00002
|
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=)
|
rs371302639
|
0.00002
|
NM_024577.4(SH3TC2):c.892A>G (p.Ile298Val)
|
rs746615255
|
0.00002
|
NM_024577.4(SH3TC2):c.936G>A (p.Ser312=)
|
rs918659172
|
0.00002
|
NM_030962.4(SBF2):c.1072G>A (p.Val358Ile)
|
rs1372841015
|
0.00002
|
NM_030962.4(SBF2):c.1130T>C (p.Ile377Thr)
|
rs371432409
|
0.00002
|
NM_030962.4(SBF2):c.1164C>T (p.His388=)
|
rs959559753
|
0.00002
|
NM_030962.4(SBF2):c.1327G>C (p.Val443Leu)
|
rs765958389
|
0.00002
|
NM_030962.4(SBF2):c.142-11A>G
|
rs539146891
|
0.00002
|
NM_030962.4(SBF2):c.1861-7C>T
|
rs199559894
|
0.00002
|
NM_030962.4(SBF2):c.1971A>G (p.Val657=)
|
rs368639697
|
0.00002
|
NM_030962.4(SBF2):c.2078A>G (p.His693Arg)
|
rs1269738427
|
0.00002
|
NM_030962.4(SBF2):c.2122T>C (p.Tyr708His)
|
rs368259453
|
0.00002
|
NM_030962.4(SBF2):c.2304C>T (p.Leu768=)
|
rs758341369
|
0.00002
|
NM_030962.4(SBF2):c.2397A>G (p.Thr799=)
|
rs759550730
|
0.00002
|
NM_030962.4(SBF2):c.2449C>T (p.Arg817Trp)
|
rs747325449
|
0.00002
|
NM_030962.4(SBF2):c.2481T>C (p.Cys827=)
|
rs777916307
|
0.00002
|
NM_030962.4(SBF2):c.2597C>T (p.Pro866Leu)
|
rs143887793
|
0.00002
|
NM_030962.4(SBF2):c.2602A>G (p.Ile868Val)
|
rs750641739
|
0.00002
|
NM_030962.4(SBF2):c.2806+10G>A
|
rs761936469
|
0.00002
|
NM_030962.4(SBF2):c.2807-8A>G
|
rs762580844
|
0.00002
|
NM_030962.4(SBF2):c.2828G>A (p.Arg943Gln)
|
rs753298285
|
0.00002
|
NM_030962.4(SBF2):c.2935-15C>G
|
rs967262284
|
0.00002
|
NM_030962.4(SBF2):c.3109C>T (p.Arg1037Cys)
|
rs770723203
|
0.00002
|
NM_030962.4(SBF2):c.3230G>C (p.Gly1077Ala)
|
rs775746690
|
0.00002
|
NM_030962.4(SBF2):c.3256+15G>C
|
rs774896771
|
0.00002
|
NM_030962.4(SBF2):c.3313A>G (p.Thr1105Ala)
|
rs1217278816
|
0.00002
|
NM_030962.4(SBF2):c.3353A>T (p.Tyr1118Phe)
|
rs1206899890
|
0.00002
|
NM_030962.4(SBF2):c.3533A>G (p.Asn1178Ser)
|
rs1310790545
|
0.00002
|
NM_030962.4(SBF2):c.3536G>A (p.Arg1179His)
|
rs751750978
|
0.00002
|
NM_030962.4(SBF2):c.3733C>T (p.His1245Tyr)
|
rs753626252
|
0.00002
|
NM_030962.4(SBF2):c.3744C>G (p.Leu1248=)
|
rs752703631
|
0.00002
|
NM_030962.4(SBF2):c.3818G>A (p.Ser1273Asn)
|
rs774935915
|
0.00002
|
NM_030962.4(SBF2):c.3858T>C (p.Val1286=)
|
rs768590614
|
0.00002
|
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln)
|
rs768571931
|
0.00002
|
NM_030962.4(SBF2):c.3978+7T>C
|
rs1416833371
|
0.00002
|
NM_030962.4(SBF2):c.402+15G>A
|
rs780717348
|
0.00002
|
NM_030962.4(SBF2):c.409C>T (p.Leu137=)
|
rs200954150
|
0.00002
|
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu)
|
rs762165359
|
0.00002
|
NM_030962.4(SBF2):c.4570+18C>T
|
rs754163697
|
0.00002
|
NM_030962.4(SBF2):c.4588A>G (p.Lys1530Glu)
|
rs746575779
|
0.00002
|
NM_030962.4(SBF2):c.4839A>G (p.Gly1613=)
|
rs759504729
|
0.00002
|
NM_030962.4(SBF2):c.4852C>T (p.Arg1618Trp)
|
rs200696363
|
0.00002
|
NM_030962.4(SBF2):c.4853G>A (p.Arg1618Gln)
|
rs770439158
|
0.00002
|
NM_030962.4(SBF2):c.4872G>T (p.Val1624=)
|
rs539369489
|
0.00002
|
NM_030962.4(SBF2):c.4932T>C (p.Ser1644=)
|
rs757095964
|
0.00002
|
NM_030962.4(SBF2):c.4960A>C (p.Asn1654His)
|
rs927212697
|
0.00002
|
NM_030962.4(SBF2):c.5007G>A (p.Val1669=)
|
rs918725972
|
0.00002
|
NM_030962.4(SBF2):c.5017G>A (p.Glu1673Lys)
|
rs764823510
|
0.00002
|
NM_030962.4(SBF2):c.5036G>A (p.Arg1679His)
|
rs769919130
|
0.00002
|
NM_030962.4(SBF2):c.5112A>G (p.Leu1704=)
|
rs370420894
|
0.00002
|
NM_030962.4(SBF2):c.5231+13A>G
|
rs1242027664
|
0.00002
|
NM_030962.4(SBF2):c.5410A>G (p.Met1804Val)
|
rs755264093
|
0.00002
|
NM_030962.4(SBF2):c.5452-18T>C
|
rs774923587
|
0.00002
|
NM_030962.4(SBF2):c.5468G>A (p.Arg1823His)
|
rs369992460
|
0.00002
|
NM_030962.4(SBF2):c.5546C>T (p.Ala1849Val)
|
rs1048725630
|
0.00002
|
NM_030962.4(SBF2):c.580A>C (p.Ile194Leu)
|
rs746246566
|
0.00002
|
NM_181882.3(PRX):c.1008C>T (p.Asp336=)
|
rs956847298
|
0.00002
|
NM_181882.3(PRX):c.1080T>C (p.Leu360=)
|
rs199882125
|
0.00002
|
NM_181882.3(PRX):c.108C>A (p.Gly36=)
|
rs771407657
|
0.00002
|
NM_181882.3(PRX):c.1107A>C (p.Ala369=)
|
rs1191054190
|
0.00002
|
NM_181882.3(PRX):c.1166C>G (p.Pro389Arg)
|
rs377089486
|
0.00002
|
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter)
|
rs773009397
|
0.00002
|
NM_181882.3(PRX):c.1465G>A (p.Val489Met)
|
rs753734869
|
0.00002
|
NM_181882.3(PRX):c.1472T>C (p.Leu491Pro)
|
rs1235376433
|
0.00002
|
NM_181882.3(PRX):c.1585A>G (p.Lys529Glu)
|
rs767098112
|
0.00002
|
NM_181882.3(PRX):c.161C>T (p.Ala54Val)
|
rs774974168
|
0.00002
|
NM_181882.3(PRX):c.16C>T (p.Arg6Trp)
|
rs759056060
|
0.00002
|
NM_181882.3(PRX):c.185-6C>T
|
rs747043680
|
0.00002
|
NM_181882.3(PRX):c.1906C>T (p.Leu636Phe)
|
rs756785716
|
0.00002
|
NM_181882.3(PRX):c.1935C>T (p.Pro645=)
|
rs763132536
|
0.00002
|
NM_181882.3(PRX):c.1950C>T (p.Pro650=)
|
rs761824931
|
0.00002
|
NM_181882.3(PRX):c.2098G>A (p.Ala700Thr)
|
rs1160407003
|
0.00002
|
NM_181882.3(PRX):c.2214C>T (p.Pro738=)
|
rs772694451
|
0.00002
|
NM_181882.3(PRX):c.2306C>T (p.Pro769Leu)
|
rs371887816
|
0.00002
|
NM_181882.3(PRX):c.2385G>A (p.Met795Ile)
|
rs929097201
|
0.00002
|
NM_181882.3(PRX):c.2395T>C (p.Phe799Leu)
|
rs372370577
|
0.00002
|
NM_181882.3(PRX):c.2496A>T (p.Val832=)
|
rs777527307
|
0.00002
|
NM_181882.3(PRX):c.2534C>T (p.Ala845Val)
|
rs750952608
|
0.00002
|
NM_181882.3(PRX):c.2689C>T (p.Arg897Ter)
|
rs756689732
|
0.00002
|
NM_181882.3(PRX):c.2707A>G (p.Ile903Val)
|
rs941768924
|
0.00002
|
NM_181882.3(PRX):c.2807T>C (p.Phe936Ser)
|
rs765270572
|
0.00002
|
NM_181882.3(PRX):c.2868G>A (p.Lys956=)
|
rs1353324401
|
0.00002
|
NM_181882.3(PRX):c.2892C>G (p.Ile964Met)
|
rs758668778
|
0.00002
|
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp)
|
rs369224308
|
0.00002
|
NM_181882.3(PRX):c.2999C>T (p.Ala1000Val)
|
rs765924621
|
0.00002
|
NM_181882.3(PRX):c.336G>A (p.Val112=)
|
rs369268369
|
0.00002
|
NM_181882.3(PRX):c.3423G>A (p.Ala1141=)
|
rs370800046
|
0.00002
|
NM_181882.3(PRX):c.3441G>A (p.Pro1147=)
|
rs777344023
|
0.00002
|
NM_181882.3(PRX):c.3486G>A (p.Glu1162=)
|
rs764466921
|
0.00002
|
NM_181882.3(PRX):c.3646G>A (p.Val1216Met)
|
rs774413102
|
0.00002
|
NM_181882.3(PRX):c.3686G>A (p.Arg1229Gln)
|
rs778017594
|
0.00002
|
NM_181882.3(PRX):c.3698C>T (p.Ala1233Val)
|
rs767851512
|
0.00002
|
NM_181882.3(PRX):c.3885G>A (p.Glu1295=)
|
rs776947855
|
0.00002
|
NM_181882.3(PRX):c.3919C>T (p.Arg1307Trp)
|
rs752593001
|
0.00002
|
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)
|
rs559968504
|
0.00002
|
NM_181882.3(PRX):c.4057G>A (p.Glu1353Lys)
|
rs150914430
|
0.00002
|
NM_181882.3(PRX):c.4117C>T (p.Arg1373Trp)
|
rs766729202
|
0.00002
|
NM_181882.3(PRX):c.4138C>T (p.Arg1380Cys)
|
rs771840476
|
0.00002
|
NM_181882.3(PRX):c.4200G>A (p.Lys1400=)
|
rs760540823
|
0.00002
|
NM_181882.3(PRX):c.4206C>T (p.Pro1402=)
|
rs771992595
|
0.00002
|
NM_181882.3(PRX):c.4290G>C (p.Glu1430Asp)
|
rs1347473458
|
0.00002
|
NM_181882.3(PRX):c.457C>T (p.Pro153Ser)
|
rs760295364
|
0.00002
|
NM_181882.3(PRX):c.502C>T (p.Arg168Trp)
|
rs374193988
|
0.00002
|
NM_181882.3(PRX):c.634C>A (p.Pro212Thr)
|
rs771156102
|
0.00002
|
NM_181882.3(PRX):c.668T>C (p.Val223Ala)
|
rs1054277008
|
0.00002
|
NM_181882.3(PRX):c.826G>A (p.Gly276Arg)
|
rs768077877
|
0.00002
|
NM_181882.3(PRX):c.833C>T (p.Pro278Leu)
|
rs886054440
|
0.00002
|
NM_181882.3(PRX):c.902C>A (p.Pro301His)
|
rs1186753867
|
0.00002
|
NM_001370298.3(FGD4):c.1098T>G (p.Asp366Glu)
|
rs765738675
|
0.00001
|
NM_001370298.3(FGD4):c.1101+14T>C
|
rs370504841
|
0.00001
|
NM_001370298.3(FGD4):c.1101+15C>A
|
rs765678800
|
0.00001
|
NM_001370298.3(FGD4):c.1102-10T>G
|
rs757366254
|
0.00001
|
NM_001370298.3(FGD4):c.1102-5T>A
|
rs1459339879
|
0.00001
|
NM_001370298.3(FGD4):c.1136G>A (p.Arg379Gln)
|
rs372866502
|
0.00001
|
NM_001370298.3(FGD4):c.1194T>C (p.Asn398=)
|
rs201678865
|
0.00001
|
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)
|
rs118203974
|
0.00001
|
NM_001370298.3(FGD4):c.1235G>A (p.Arg412Gln)
|
rs756169087
|
0.00001
|
NM_001370298.3(FGD4):c.1248-13A>G
|
rs551481786
|
0.00001
|
NM_001370298.3(FGD4):c.1248-17T>C
|
rs376455877
|
0.00001
|
NM_001370298.3(FGD4):c.1276C>T (p.Leu426Phe)
|
rs1204289708
|
0.00001
|
NM_001370298.3(FGD4):c.1348G>A (p.Val450Ile)
|
rs768392772
|
0.00001
|
NM_001370298.3(FGD4):c.1366C>T (p.Arg456Cys)
|
rs1131691854
|
0.00001
|
NM_001370298.3(FGD4):c.1404+5T>C
|
rs373712001
|
0.00001
|
NM_001370298.3(FGD4):c.1472G>A (p.Arg491Gln)
|
rs1415031307
|
0.00001
|
NM_001370298.3(FGD4):c.1488T>G (p.Leu496=)
|
rs750201776
|
0.00001
|
NM_001370298.3(FGD4):c.1502G>C (p.Arg501Thr)
|
rs755934741
|
0.00001
|
NM_001370298.3(FGD4):c.1543+8_1543+9insG
|
rs1555216986
|
0.00001
|
NM_001370298.3(FGD4):c.1602+7G>A
|
rs369751598
|
0.00001
|
NM_001370298.3(FGD4):c.1603-9A>G
|
rs1555217855
|
0.00001
|
NM_001370298.3(FGD4):c.1603G>A (p.Glu535Lys)
|
rs756885149
|
0.00001
|
NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val)
|
rs750265200
|
0.00001
|
NM_001370298.3(FGD4):c.1749+3G>A
|
rs542398408
|
0.00001
|
NM_001370298.3(FGD4):c.1846G>A (p.Val616Ile)
|
rs1949690181
|
0.00001
|
NM_001370298.3(FGD4):c.1906C>T (p.Leu636=)
|
rs182397244
|
0.00001
|
NM_001370298.3(FGD4):c.1936A>G (p.Lys646Glu)
|
rs1217036684
|
0.00001
|
NM_001370298.3(FGD4):c.1963G>A (p.Glu655Lys)
|
rs769604865
|
0.00001
|
NM_001370298.3(FGD4):c.1972G>A (p.Asp658Asn)
|
rs774787616
|
0.00001
|
NM_001370298.3(FGD4):c.2046+18C>A
|
rs1950066689
|
0.00001
|
NM_001370298.3(FGD4):c.2079G>A (p.Trp693Ter)
|
rs751404531
|
0.00001
|
NM_001370298.3(FGD4):c.2083C>T (p.Arg695Ter)
|
rs899737461
|
0.00001
|
NM_001370298.3(FGD4):c.2133A>G (p.Ala711=)
|
rs771910342
|
0.00001
|
NM_001370298.3(FGD4):c.2140C>T (p.Arg714Ter)
|
rs778377449
|
0.00001
|
NM_001370298.3(FGD4):c.2148G>A (p.Arg716=)
|
rs372451301
|
0.00001
|
NM_001370298.3(FGD4):c.2172+12T>G
|
rs945554080
|
0.00001
|
NM_001370298.3(FGD4):c.2173-20A>C
|
rs1248910039
|
0.00001
|
NM_001370298.3(FGD4):c.2263A>G (p.Ile755Val)
|
rs764635514
|
0.00001
|
NM_001370298.3(FGD4):c.2331A>G (p.Val777=)
|
rs909875227
|
0.00001
|
NM_001370298.3(FGD4):c.2349G>A (p.Val783=)
|
rs751146762
|
0.00001
|
NM_001370298.3(FGD4):c.2402G>C (p.Cys801Ser)
|
rs749404822
|
0.00001
|
NM_001370298.3(FGD4):c.2455-5T>G
|
rs749267223
|
0.00001
|
NM_001370298.3(FGD4):c.2481A>T (p.Pro827=)
|
rs772795536
|
0.00001
|
NM_001370298.3(FGD4):c.2499G>A (p.Val833=)
|
rs1249630170
|
0.00001
|
NM_001370298.3(FGD4):c.2523C>A (p.Asp841Glu)
|
rs751777807
|
0.00001
|
NM_001370298.3(FGD4):c.2597A>G (p.Gln866Arg)
|
rs777302433
|
0.00001
|
NM_001370298.3(FGD4):c.2608A>G (p.Lys870Glu)
|
rs746459196
|
0.00001
|
NM_001370298.3(FGD4):c.2610A>C (p.Lys870Asn)
|
rs770729087
|
0.00001
|
NM_001370298.3(FGD4):c.2616C>T (p.Ile872=)
|
rs759982135
|
0.00001
|
NM_001370298.3(FGD4):c.2645G>T (p.Gly882Val)
|
rs1951104872
|
0.00001
|
NM_001370298.3(FGD4):c.2685T>C (p.Pro895=)
|
rs1261222765
|
0.00001
|
NM_001370298.3(FGD4):c.430G>A (p.Ala144Thr)
|
rs374980260
|
0.00001
|
NM_001370298.3(FGD4):c.441T>C (p.Ser147=)
|
rs748732880
|
0.00001
|
NM_001370298.3(FGD4):c.499_501dup (p.Gly167_Ser168insGly)
|
rs1223446306
|
0.00001
|
NM_001370298.3(FGD4):c.593C>T (p.Thr198Ile)
|
rs1390487641
|
0.00001
|
NM_001370298.3(FGD4):c.595C>T (p.Pro199Ser)
|
rs1555209302
|
0.00001
|
NM_001370298.3(FGD4):c.596C>T (p.Pro199Leu)
|
rs747690428
|
0.00001
|
NM_001370298.3(FGD4):c.612C>T (p.Leu204=)
|
rs141920723
|
0.00001
|
NM_001370298.3(FGD4):c.624G>A (p.Leu208=)
|
rs1213300520
|
0.00001
|
NM_001370298.3(FGD4):c.638G>A (p.Gly213Glu)
|
rs61754560
|
0.00001
|
NM_001370298.3(FGD4):c.674G>A (p.Cys225Tyr)
|
rs201660852
|
0.00001
|
NM_001370298.3(FGD4):c.708G>T (p.Gln236His)
|
rs936490141
|
0.00001
|
NM_001370298.3(FGD4):c.721G>A (p.Glu241Lys)
|
rs752621629
|
0.00001
|
NM_001370298.3(FGD4):c.786G>A (p.Thr262=)
|
rs374075663
|
0.00001
|
NM_001370298.3(FGD4):c.789C>G (p.His263Gln)
|
rs757469397
|
0.00001
|
NM_001370298.3(FGD4):c.790A>G (p.Ile264Val)
|
rs768685900
|
0.00001
|
NM_001370298.3(FGD4):c.809A>G (p.Asp270Gly)
|
rs759415605
|
0.00001
|
NM_001370298.3(FGD4):c.848G>T (p.Ser283Ile)
|
rs1208033042
|
0.00001
|
NM_001370298.3(FGD4):c.871A>G (p.Ser291Gly)
|
rs1242400732
|
0.00001
|
NM_001370298.3(FGD4):c.945A>G (p.Val315=)
|
rs756774860
|
0.00001
|
NM_001370298.3(FGD4):c.949G>A (p.Glu317Lys)
|
rs148406003
|
0.00001
|
NM_001370298.3(FGD4):c.984G>T (p.Glu328Asp)
|
rs1487363420
|
0.00001
|
NM_001370298.3(FGD4):c.999C>T (p.His333=)
|
rs748534766
|
0.00001
|
NM_006096.4(NDRG1):c.1022G>A (p.Arg341His)
|
rs1392179290
|
0.00001
|
NM_006096.4(NDRG1):c.1028G>A (p.Arg343His)
|
rs144714216
|
0.00001
|
NM_006096.4(NDRG1):c.1046G>A (p.Gly349Asp)
|
rs1209851405
|
0.00001
|
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln)
|
rs1282857383
|
0.00001
|
NM_006096.4(NDRG1):c.106G>T (p.Asp36Tyr)
|
rs745832151
|
0.00001
|
NM_006096.4(NDRG1):c.1085G>A (p.Ser362Asn)
|
rs749124058
|
0.00001
|
NM_006096.4(NDRG1):c.1091C>T (p.Ser364Leu)
|
rs767058269
|
0.00001
|
NM_006096.4(NDRG1):c.111C>T (p.Ile37=)
|
rs1040626274
|
0.00001
|
NM_006096.4(NDRG1):c.1125C>T (p.Thr375=)
|
rs1433020796
|
0.00001
|
NM_006096.4(NDRG1):c.112G>A (p.Glu38Lys)
|
rs1399039574
|
0.00001
|
NM_006096.4(NDRG1):c.1136G>A (p.Gly379Asp)
|
rs1417950013
|
0.00001
|
NM_006096.4(NDRG1):c.1140T>C (p.Ala380=)
|
rs1184071181
|
0.00001
|
NM_006096.4(NDRG1):c.1146G>A (p.Gly382=)
|
rs761869008
|
0.00001
|
NM_006096.4(NDRG1):c.1153G>A (p.Ala385Thr)
|
rs1276408714
|
0.00001
|
NM_006096.4(NDRG1):c.1179C>T (p.Ser393=)
|
rs1429388363
|
0.00001
|
NM_006096.4(NDRG1):c.135C>T (p.His45=)
|
rs146924327
|
0.00001
|
NM_006096.4(NDRG1):c.140C>T (p.Thr47Met)
|
rs756570592
|
0.00001
|
NM_006096.4(NDRG1):c.144G>T (p.Leu48=)
|
rs1856822376
|
0.00001
|
NM_006096.4(NDRG1):c.165C>T (p.Asn55=)
|
rs368056707
|
0.00001
|
NM_006096.4(NDRG1):c.166C>T (p.Arg56Trp)
|
rs769720211
|
0.00001
|
NM_006096.4(NDRG1):c.16C>T (p.Gln6Ter)
|
rs1048918488
|
0.00001
|
NM_006096.4(NDRG1):c.175A>C (p.Ile59Leu)
|
rs1404219858
|
0.00001
|
NM_006096.4(NDRG1):c.195C>T (p.Ile65=)
|
rs747826464
|
0.00001
|
NM_006096.4(NDRG1):c.196G>A (p.Gly66Ser)
|
rs780329667
|
0.00001
|
NM_006096.4(NDRG1):c.201G>A (p.Met67Ile)
|
rs1240902905
|
0.00001
|
NM_006096.4(NDRG1):c.205+1G>A
|
rs1060503092
|
0.00001
|
NM_006096.4(NDRG1):c.217T>C (p.Tyr73His)
|
rs368584363
|
0.00001
|
NM_006096.4(NDRG1):c.225C>T (p.Pro75=)
|
rs1399226663
|
0.00001
|
NM_006096.4(NDRG1):c.237C>T (p.Tyr79=)
|
rs199928197
|
0.00001
|
NM_006096.4(NDRG1):c.261G>A (p.Gln87=)
|
rs779852927
|
0.00001
|
NM_006096.4(NDRG1):c.264C>T (p.His88=)
|
rs745641689
|
0.00001
|
NM_006096.4(NDRG1):c.279C>T (p.His93=)
|
rs535621392
|
0.00001
|
NM_006096.4(NDRG1):c.303C>T (p.Asp101=)
|
rs765528167
|
0.00001
|
NM_006096.4(NDRG1):c.311C>A (p.Ala104Asp)
|
rs1346600957
|
0.00001
|
NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr)
|
rs144310406
|
0.00001
|
NM_006096.4(NDRG1):c.337C>T (p.Pro113Ser)
|
rs750194735
|
0.00001
|
NM_006096.4(NDRG1):c.389+13G>C
|
rs537705365
|
0.00001
|
NM_006096.4(NDRG1):c.389+9G>A
|
rs762349755
|
0.00001
|
NM_006096.4(NDRG1):c.38T>C (p.Val13Ala)
|
rs551852206
|
0.00001
|
NM_006096.4(NDRG1):c.400A>G (p.Ile134Val)
|
rs762263620
|
0.00001
|
NM_006096.4(NDRG1):c.438A>C (p.Leu146=)
|
rs772535207
|
0.00001
|
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085
|
0.00001
|
NM_006096.4(NDRG1):c.459C>T (p.Asn153=)
|
rs1362437196
|
0.00001
|
NM_006096.4(NDRG1):c.477C>T (p.Gly159=)
|
rs747948344
|
0.00001
|
NM_006096.4(NDRG1):c.483C>T (p.Val161=)
|
rs778902905
|
0.00001
|
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)
|
rs748782766
|
0.00001
|
NM_006096.4(NDRG1):c.537+15T>C
|
rs774062606
|
0.00001
|
NM_006096.4(NDRG1):c.537+17T>C
|
rs760837390
|
0.00001
|
NM_006096.4(NDRG1):c.537+6G>A
|
rs556570301
|
0.00001
|
NM_006096.4(NDRG1):c.538-10T>C
|
rs1856267945
|
0.00001
|
NM_006096.4(NDRG1):c.543A>C (p.Ser181=)
|
rs1856266963
|
0.00001
|
NM_006096.4(NDRG1):c.546A>G (p.Gly182=)
|
rs745362178
|
0.00001
|
NM_006096.4(NDRG1):c.559C>G (p.Leu187Val)
|
rs746650111
|
0.00001
|
NM_006096.4(NDRG1):c.563C>T (p.Pro188Leu)
|
rs779194865
|
0.00001
|
NM_006096.4(NDRG1):c.564G>A (p.Pro188=)
|
rs755317968
|
0.00001
|
NM_006096.4(NDRG1):c.571G>A (p.Val191Met)
|
rs749716207
|
0.00001
|
NM_006096.4(NDRG1):c.574G>A (p.Val192Met)
|
rs1256911364
|
0.00001
|
NM_006096.4(NDRG1):c.582C>G (p.His194Gln)
|
rs1305919985
|
0.00001
|
NM_006096.4(NDRG1):c.583C>T (p.Leu195Phe)
|
rs1295024326
|
0.00001
|
NM_006096.4(NDRG1):c.585T>A (p.Leu195=)
|
rs373490199
|
0.00001
|
NM_006096.4(NDRG1):c.591G>A (p.Gly197=)
|
rs377257830
|
0.00001
|
NM_006096.4(NDRG1):c.594+8G>T
|
rs767524421
|
0.00001
|
NM_006096.4(NDRG1):c.595-12C>T
|
rs751730957
|
0.00001
|
NM_006096.4(NDRG1):c.612C>T (p.Asn204=)
|
rs766402088
|
0.00001
|
NM_006096.4(NDRG1):c.63+16C>T
|
rs377228732
|
0.00001
|
NM_006096.4(NDRG1):c.63+1G>A
|
rs1320417829
|
0.00001
|
NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys)
|
rs1213776109
|
0.00001
|
NM_006096.4(NDRG1):c.64-11T>C
|
rs754822633
|
0.00001
|
NM_006096.4(NDRG1):c.640C>T (p.His214Tyr)
|
rs1855954315
|
0.00001
|
NM_006096.4(NDRG1):c.643A>G (p.Ile215Val)
|
rs1390282778
|
0.00001
|
NM_006096.4(NDRG1):c.64A>G (p.Thr22Ala)
|
rs755696955
|
0.00001
|
NM_006096.4(NDRG1):c.656T>A (p.Met219Lys)
|
rs147184316
|
0.00001
|
NM_006096.4(NDRG1):c.669C>T (p.Asn223=)
|
rs771616050
|
0.00001
|
NM_006096.4(NDRG1):c.699-16C>G
|
rs567104964
|
0.00001
|
NM_006096.4(NDRG1):c.699-3C>T
|
rs931942837
|
0.00001
|
NM_006096.4(NDRG1):c.701G>A (p.Arg234Gln)
|
rs755968590
|
0.00001
|
NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn)
|
rs1337832950
|
0.00001
|
NM_006096.4(NDRG1):c.722G>A (p.Arg241Gln)
|
rs1463129303
|
0.00001
|
NM_006096.4(NDRG1):c.727A>G (p.Met243Val)
|
rs767505621
|
0.00001
|
NM_006096.4(NDRG1):c.732G>A (p.Pro244=)
|
rs532191834
|
0.00001
|
NM_006096.4(NDRG1):c.73G>C (p.Gly25Arg)
|
rs377527660
|
0.00001
|
NM_006096.4(NDRG1):c.741C>T (p.His247=)
|
rs755977835
|
0.00001
|
NM_006096.4(NDRG1):c.744A>G (p.Thr248=)
|
rs767500485
|
0.00001
|
NM_006096.4(NDRG1):c.755+9C>T
|
rs756756059
|
0.00001
|
NM_006096.4(NDRG1):c.756-9T>C
|
rs1456184015
|
0.00001
|
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)
|
rs898573925
|
0.00001
|
NM_006096.4(NDRG1):c.788C>T (p.Ser263Leu)
|
rs770044182
|
0.00001
|
NM_006096.4(NDRG1):c.78C>T (p.Leu26=)
|
rs1458380202
|
0.00001
|
NM_006096.4(NDRG1):c.7C>T (p.Arg3Trp)
|
rs537161398
|
0.00001
|
NM_006096.4(NDRG1):c.805G>A (p.Val269Met)
|
rs750779893
|
0.00001
|
NM_006096.4(NDRG1):c.843C>T (p.Thr281=)
|
rs1272669552
|
0.00001
|
NM_006096.4(NDRG1):c.852C>T (p.Leu284=)
|
rs376272911
|
0.00001
|
NM_006096.4(NDRG1):c.855+14_855+15del
|
rs780070007
|
0.00001
|
NM_006096.4(NDRG1):c.855+8G>A
|
rs776826543
|
0.00001
|
NM_006096.4(NDRG1):c.860C>T (p.Ala287Val)
|
rs761760894
|
0.00001
|
NM_006096.4(NDRG1):c.870C>T (p.Gly290=)
|
rs1295553913
|
0.00001
|
NM_006096.4(NDRG1):c.891+11T>C
|
rs755495413
|
0.00001
|
NM_006096.4(NDRG1):c.891+15G>A
|
rs1554748576
|
0.00001
|
NM_006096.4(NDRG1):c.892-9C>G
|
rs987790520
|
0.00001
|
NM_006096.4(NDRG1):c.893C>T (p.Pro298Leu)
|
rs753836263
|
0.00001
|
NM_006096.4(NDRG1):c.899A>G (p.Lys300Arg)
|
rs1337997229
|
0.00001
|
NM_006096.4(NDRG1):c.900G>A (p.Lys300=)
|
rs1365117893
|
0.00001
|
NM_006096.4(NDRG1):c.903C>T (p.Leu301=)
|
rs752571083
|
0.00001
|
NM_006096.4(NDRG1):c.924C>T (p.Phe308=)
|
rs1376691366
|
0.00001
|
NM_006096.4(NDRG1):c.925G>A (p.Val309Met)
|
rs1855413937
|
0.00001
|
NM_006096.4(NDRG1):c.93T>C (p.Asp31=)
|
rs773317729
|
0.00001
|
NM_006096.4(NDRG1):c.943+7A>G
|
rs571439980
|
0.00001
|
NM_006096.4(NDRG1):c.947C>G (p.Pro316Arg)
|
rs1033985666
|
0.00001
|
NM_006096.4(NDRG1):c.950C>T (p.Ser317Leu)
|
rs904186690
|
0.00001
|
NM_006096.4(NDRG1):c.975G>A (p.Arg325=)
|
rs375099070
|
0.00001
|
NM_006096.4(NDRG1):c.987C>T (p.Ala329=)
|
rs778770054
|
0.00001
|
NM_014845.6(FIG4):c.1039+3G>A
|
rs760007124
|
0.00001
|
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs)
|
rs1368013631
|
0.00001
|
NM_014845.6(FIG4):c.1051G>C (p.Asp351His)
|
rs879253941
|
0.00001
|
NM_014845.6(FIG4):c.1064A>G (p.His355Arg)
|
rs772356514
|
0.00001
|
NM_014845.6(FIG4):c.110G>A (p.Arg37His)
|
rs192324110
|
0.00001
|
NM_014845.6(FIG4):c.1116C>T (p.Ile372=)
|
rs754932535
|
0.00001
|
NM_014845.6(FIG4):c.1137+14A>G
|
rs1776398818
|
0.00001
|
NM_014845.6(FIG4):c.1137+5G>T
|
rs746766125
|
0.00001
|
NM_014845.6(FIG4):c.114C>T (p.Val38=)
|
rs765676819
|
0.00001
|
NM_014845.6(FIG4):c.1165A>G (p.Ile389Val)
|
rs765216035
|
0.00001
|
NM_014845.6(FIG4):c.116T>C (p.Leu39Ser)
|
rs373630745
|
0.00001
|
NM_014845.6(FIG4):c.121A>G (p.Ile41Val)
|
rs1775389277
|
0.00001
|
NM_014845.6(FIG4):c.1228A>G (p.Thr410Ala)
|
rs142463699
|
0.00001
|
NM_014845.6(FIG4):c.125A>G (p.Asp42Gly)
|
rs780739049
|
0.00001
|
NM_014845.6(FIG4):c.1271+7G>A
|
rs1158557424
|
0.00001
|
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp)
|
rs1255518113
|
0.00001
|
NM_014845.6(FIG4):c.1338C>G (p.Phe446Leu)
|
rs1353768172
|
0.00001
|
NM_014845.6(FIG4):c.1350C>G (p.Arg450=)
|
rs763035100
|
0.00001
|
NM_014845.6(FIG4):c.1375C>T (p.Arg459Trp)
|
rs1220742669
|
0.00001
|
NM_014845.6(FIG4):c.1388+1G>A
|
rs754338522
|
0.00001
|
NM_014845.6(FIG4):c.1389-4A>G
|
rs1234617040
|
0.00001
|
NM_014845.6(FIG4):c.1389-5C>T
|
rs377752443
|
0.00001
|
NM_014845.6(FIG4):c.1432C>G (p.Gln478Glu)
|
rs1331703765
|
0.00001
|
NM_014845.6(FIG4):c.1434+16C>T
|
rs772128948
|
0.00001
|
NM_014845.6(FIG4):c.1434+7A>C
|
rs773157476
|
0.00001
|
NM_014845.6(FIG4):c.1434G>A (p.Gln478=)
|
rs1430381590
|
0.00001
|
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter)
|
rs1228223508
|
0.00001
|
NM_014845.6(FIG4):c.1490A>T (p.Gln497Leu)
|
rs748473120
|
0.00001
|
NM_014845.6(FIG4):c.1525C>T (p.Leu509=)
|
rs146488614
|
0.00001
|
NM_014845.6(FIG4):c.1527G>A (p.Leu509=)
|
rs1282869999
|
0.00001
|
NM_014845.6(FIG4):c.1555A>G (p.Asn519Asp)
|
rs374129146
|
0.00001
|
NM_014845.6(FIG4):c.155T>C (p.Ile52Thr)
|
rs754533235
|
0.00001
|
NM_014845.6(FIG4):c.1584-16G>A
|
rs1223371250
|
0.00001
|
NM_014845.6(FIG4):c.1584-9T>C
|
rs748433013
|
0.00001
|
NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter)
|
rs776090013
|
0.00001
|
NM_014845.6(FIG4):c.1750+11A>C
|
rs766372971
|
0.00001
|
NM_014845.6(FIG4):c.1750+3A>G
|
rs758390500
|
0.00001
|
NM_014845.6(FIG4):c.1755C>T (p.Ala585=)
|
rs377111248
|
0.00001
|
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr)
|
rs751399063
|
0.00001
|
NM_014845.6(FIG4):c.180A>G (p.Gln60=)
|
rs376730932
|
0.00001
|
NM_014845.6(FIG4):c.1812A>G (p.Lys604=)
|
rs1399930708
|
0.00001
|
NM_014845.6(FIG4):c.1827G>A (p.Glu609=)
|
rs756085095
|
0.00001
|
NM_014845.6(FIG4):c.1834A>G (p.Thr612Ala)
|
rs758695444
|
0.00001
|
NM_014845.6(FIG4):c.1836A>G (p.Thr612=)
|
rs1267198458
|
0.00001
|
NM_014845.6(FIG4):c.1838A>G (p.Asp613Gly)
|
rs1243225247
|
0.00001
|
NM_014845.6(FIG4):c.1890-18T>A
|
rs769375338
|
0.00001
|
NM_014845.6(FIG4):c.1949-10T>G
|
rs896444437
|
0.00001
|
NM_014845.6(FIG4):c.1A>C (p.Met1Leu)
|
rs1490935299
|
0.00001
|
NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn)
|
rs774499394
|
0.00001
|
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser)
|
rs745860370
|
0.00001
|
NM_014845.6(FIG4):c.2036G>A (p.Arg679Gln)
|
rs192447225
|
0.00001
|
NM_014845.6(FIG4):c.2042A>G (p.Tyr681Cys)
|
rs554382573
|
0.00001
|
NM_014845.6(FIG4):c.2069T>C (p.Phe690Ser)
|
rs1237449502
|
0.00001
|
NM_014845.6(FIG4):c.2085A>C (p.Thr695=)
|
rs1197412787
|
0.00001
|
NM_014845.6(FIG4):c.2096+16T>A
|
rs779641739
|
0.00001
|
NM_014845.6(FIG4):c.2115C>T (p.Thr705=)
|
rs201271644
|
0.00001
|
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile)
|
rs754830354
|
0.00001
|
NM_014845.6(FIG4):c.2118T>G (p.Val706=)
|
rs780930471
|
0.00001
|
NM_014845.6(FIG4):c.2212C>T (p.Gln738Ter)
|
rs774799167
|
0.00001
|
NM_014845.6(FIG4):c.2215C>A (p.Arg739=)
|
rs773877685
|
0.00001
|
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met)
|
rs1274229885
|
0.00001
|
NM_014845.6(FIG4):c.2238G>A (p.Pro746=)
|
rs753867543
|
0.00001
|
NM_014845.6(FIG4):c.2240C>T (p.Pro747Leu)
|
rs1266127215
|
0.00001
|
NM_014845.6(FIG4):c.2250C>T (p.Ser750=)
|
rs751694228
|
0.00001
|
NM_014845.6(FIG4):c.2256G>C (p.Glu752Asp)
|
rs375960403
|
0.00001
|
NM_014845.6(FIG4):c.2289G>A (p.Gly763=)
|
rs756539176
|
0.00001
|
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp)
|
rs552937585
|
0.00001
|
NM_014845.6(FIG4):c.2308G>A (p.Gly770Ser)
|
rs779329699
|
0.00001
|
NM_014845.6(FIG4):c.2319T>C (p.Ser773=)
|
rs745397940
|
0.00001
|
NM_014845.6(FIG4):c.2334C>T (p.Pro778=)
|
rs1183428109
|
0.00001
|
NM_014845.6(FIG4):c.2339A>G (p.Lys780Arg)
|
rs373590484
|
0.00001
|
NM_014845.6(FIG4):c.2382G>A (p.Val794=)
|
rs1201567620
|
0.00001
|
NM_014845.6(FIG4):c.2403A>G (p.Leu801=)
|
rs1048137431
|
0.00001
|
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)
|
rs375414729
|
0.00001
|
NM_014845.6(FIG4):c.244G>A (p.Gly82Arg)
|
rs774546266
|
0.00001
|
NM_014845.6(FIG4):c.2459+6_2459+8dup
|
rs1562687535
|
0.00001
|
NM_014845.6(FIG4):c.2460-17T>C
|
rs201533992
|
0.00001
|
NM_014845.6(FIG4):c.2460-2A>G
|
rs1458183004
|
0.00001
|
NM_014845.6(FIG4):c.2464G>C (p.Val822Leu)
|
rs1208125100
|
0.00001
|
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
0.00001
|
NM_014845.6(FIG4):c.2469G>T (p.Gln823His)
|
rs768773104
|
0.00001
|
NM_014845.6(FIG4):c.2470C>T (p.Leu824=)
|
rs1290598433
|
0.00001
|
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu)
|
rs768384237
|
0.00001
|
NM_014845.6(FIG4):c.252G>A (p.Ser84=)
|
rs532895784
|
0.00001
|
NM_014845.6(FIG4):c.2546+11G>T
|
rs1051662160
|
0.00001
|
NM_014845.6(FIG4):c.2547-12C>T
|
rs778747845
|
0.00001
|
NM_014845.6(FIG4):c.2547-1G>A
|
rs769858739
|
0.00001
|
NM_014845.6(FIG4):c.2558C>T (p.Ser853Leu)
|
rs774805375
|
0.00001
|
NM_014845.6(FIG4):c.2617A>C (p.Thr873Pro)
|
rs199765196
|
0.00001
|
NM_014845.6(FIG4):c.2640C>T (p.Ile880=)
|
rs769813337
|
0.00001
|
NM_014845.6(FIG4):c.2654G>T (p.Gly885Val)
|
rs550030053
|
0.00001
|
NM_014845.6(FIG4):c.2660T>C (p.Met887Thr)
|
rs780643086
|
0.00001
|
NM_014845.6(FIG4):c.2687C>G (p.Ser896Cys)
|
rs776236607
|
0.00001
|
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter)
|
rs750069994
|
0.00001
|
NM_014845.6(FIG4):c.2713C>T (p.Arg905Cys)
|
rs754970037
|
0.00001
|
NM_014845.6(FIG4):c.289+10C>A
|
rs778732368
|
0.00001
|
NM_014845.6(FIG4):c.300G>A (p.Arg100=)
|
rs368831195
|
0.00001
|
NM_014845.6(FIG4):c.318T>C (p.Tyr106=)
|
rs1417300017
|
0.00001
|
NM_014845.6(FIG4):c.324G>C (p.Val108=)
|
rs1371576818
|
0.00001
|
NM_014845.6(FIG4):c.353A>G (p.Asp118Gly)
|
rs771093157
|
0.00001
|
NM_014845.6(FIG4):c.374A>G (p.Tyr125Cys)
|
rs145466148
|
0.00001
|
NM_014845.6(FIG4):c.396G>A (p.Met132Ile)
|
rs1775847696
|
0.00001
|
NM_014845.6(FIG4):c.477A>G (p.Leu159=)
|
rs769256280
|
0.00001
|
NM_014845.6(FIG4):c.497+14T>G
|
rs756070677
|
0.00001
|
NM_014845.6(FIG4):c.521C>T (p.Ser174Leu)
|
rs775391378
|
0.00001
|
NM_014845.6(FIG4):c.52T>C (p.Tyr18His)
|
rs1774396046
|
0.00001
|
NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter)
|
rs760575768
|
0.00001
|
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)
|
rs121908288
|
0.00001
|
NM_014845.6(FIG4):c.548G>A (p.Arg183Gln)
|
rs781588508
|
0.00001
|
NM_014845.6(FIG4):c.559G>A (p.Glu187Lys)
|
rs370115339
|
0.00001
|
NM_014845.6(FIG4):c.589C>T (p.Arg197Cys)
|
rs770528195
|
0.00001
|
NM_014845.6(FIG4):c.641G>A (p.Gly214Glu)
|
rs1776128339
|
0.00001
|
NM_014845.6(FIG4):c.66+18G>A
|
rs1381893795
|
0.00001
|
NM_014845.6(FIG4):c.685G>A (p.Val229Ile)
|
rs779593250
|
0.00001
|
NM_014845.6(FIG4):c.764G>A (p.Cys255Tyr)
|
rs1776227536
|
0.00001
|
NM_014845.6(FIG4):c.776A>C (p.Lys259Thr)
|
rs1045259801
|
0.00001
|
NM_014845.6(FIG4):c.788A>G (p.Tyr263Cys)
|
rs370148297
|
0.00001
|
NM_014845.6(FIG4):c.80T>C (p.Val27Ala)
|
rs769687105
|
0.00001
|
NM_014845.6(FIG4):c.827C>T (p.Ser276Phe)
|
rs1311885951
|
0.00001
|
NM_014845.6(FIG4):c.876+8G>A
|
rs923581334
|
0.00001
|
NM_014845.6(FIG4):c.877-8C>G
|
rs1279902930
|
0.00001
|
NM_014845.6(FIG4):c.885T>A (p.Val295=)
|
rs551491783
|
0.00001
|
NM_014845.6(FIG4):c.909A>G (p.Gln303=)
|
rs1173352807
|
0.00001
|
NM_014845.6(FIG4):c.915C>G (p.Leu305=)
|
rs375022448
|
0.00001
|
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)
|
rs776757548
|
0.00001
|
NM_016156.6(MTMR2):c.1091G>A (p.Arg364Gln)
|
rs768976966
|
0.00001
|
NM_016156.6(MTMR2):c.1096C>G (p.Leu366Val)
|
rs925169921
|
0.00001
|
NM_016156.6(MTMR2):c.1121T>C (p.Ile374Thr)
|
rs114883605
|
0.00001
|
NM_016156.6(MTMR2):c.1179+7G>A
|
rs750955214
|
0.00001
|
NM_016156.6(MTMR2):c.1180-11C>T
|
rs1200941827
|
0.00001
|
NM_016156.6(MTMR2):c.1187T>C (p.Leu396Pro)
|
rs770852495
|
0.00001
|
NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter)
|
rs121434402
|
0.00001
|
NM_016156.6(MTMR2):c.1281C>A (p.Leu427=)
|
rs199542109
|
0.00001
|
NM_016156.6(MTMR2):c.1312T>C (p.Tyr438His)
|
rs1360581554
|
0.00001
|
NM_016156.6(MTMR2):c.1318C>T (p.Arg440Ter)
|
rs751677491
|
0.00001
|
NM_016156.6(MTMR2):c.1319G>A (p.Arg440Gln)
|
rs1383802560
|
0.00001
|
NM_016156.6(MTMR2):c.1328G>A (p.Arg443Gln)
|
rs1590978311
|
0.00001
|
NM_016156.6(MTMR2):c.1362_1363del (p.Ser455fs)
|
rs1177373744
|
0.00001
|
NM_016156.6(MTMR2):c.1386+8A>C
|
rs371105248
|
0.00001
|
NM_016156.6(MTMR2):c.1387-7G>A
|
rs1279840467
|
0.00001
|
NM_016156.6(MTMR2):c.1446A>G (p.Gln482=)
|
rs376166939
|
0.00001
|
NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys)
|
rs1170327910
|
0.00001
|
NM_016156.6(MTMR2):c.1479+13G>A
|
rs968902751
|
0.00001
|
NM_016156.6(MTMR2):c.1480-20T>C
|
rs371041744
|
0.00001
|
NM_016156.6(MTMR2):c.1489G>A (p.Ala497Thr)
|
rs752626893
|
0.00001
|
NM_016156.6(MTMR2):c.1511T>C (p.Phe504Ser)
|
rs1221811087
|
0.00001
|
NM_016156.6(MTMR2):c.1536A>G (p.Leu512=)
|
rs1015773638
|
0.00001
|
NM_016156.6(MTMR2):c.1594-9T>G
|
rs774704606
|
0.00001
|
NM_016156.6(MTMR2):c.1618C>T (p.Leu540=)
|
rs142687077
|
0.00001
|
NM_016156.6(MTMR2):c.1630A>G (p.Ile544Val)
|
rs781368440
|
0.00001
|
NM_016156.6(MTMR2):c.1661C>T (p.Pro554Leu)
|
rs750110066
|
0.00001
|
NM_016156.6(MTMR2):c.1770G>A (p.Gln590=)
|
rs778532655
|
0.00001
|
NM_016156.6(MTMR2):c.186+16T>C
|
rs1325405868
|
0.00001
|
NM_016156.6(MTMR2):c.1900C>T (p.Gln634Ter)
|
rs923973985
|
0.00001
|
NM_016156.6(MTMR2):c.1910C>T (p.Thr637Ile)
|
rs1555056657
|
0.00001
|
NM_016156.6(MTMR2):c.197A>G (p.Glu66Gly)
|
rs756405288
|
0.00001
|
NM_016156.6(MTMR2):c.213A>G (p.Ala71=)
|
rs1402885565
|
0.00001
|
NM_016156.6(MTMR2):c.240A>C (p.Pro80=)
|
rs201920176
|
0.00001
|
NM_016156.6(MTMR2):c.248A>C (p.Asn83Thr)
|
rs757664332
|
0.00001
|
NM_016156.6(MTMR2):c.269A>T (p.Asp90Val)
|
rs147341114
|
0.00001
|
NM_016156.6(MTMR2):c.301G>A (p.Val101Ile)
|
rs1340382592
|
0.00001
|
NM_016156.6(MTMR2):c.309A>T (p.Gly103=)
|
rs114274243
|
0.00001
|
NM_016156.6(MTMR2):c.327T>G (p.Asn109Lys)
|
rs1322357085
|
0.00001
|
NM_016156.6(MTMR2):c.330T>C (p.Tyr110=)
|
rs777436469
|
0.00001
|
NM_016156.6(MTMR2):c.34T>A (p.Ser12Thr)
|
rs1867035083
|
0.00001
|
NM_016156.6(MTMR2):c.357+4A>C
|
rs863224750
|
0.00001
|
NM_016156.6(MTMR2):c.393G>C (p.Val131=)
|
rs757865509
|
0.00001
|
NM_016156.6(MTMR2):c.414T>C (p.Ile138=)
|
rs754358489
|
0.00001
|
NM_016156.6(MTMR2):c.430C>T (p.Arg144Ter)
|
rs1864438088
|
0.00001
|
NM_016156.6(MTMR2):c.458C>G (p.Thr153Ser)
|
rs1864437012
|
0.00001
|
NM_016156.6(MTMR2):c.460G>A (p.Val154Met)
|
rs1464362553
|
0.00001
|
NM_016156.6(MTMR2):c.469-9C>A
|
rs779741464
|
0.00001
|
NM_016156.6(MTMR2):c.479A>C (p.Asn160Thr)
|
rs1286568485
|
0.00001
|
NM_016156.6(MTMR2):c.494A>C (p.His165Pro)
|
rs1360315392
|
0.00001
|
NM_016156.6(MTMR2):c.507G>A (p.Gly169=)
|
rs753188177
|
0.00001
|
NM_016156.6(MTMR2):c.52C>T (p.Arg18Trp)
|
rs1177699275
|
0.00001
|
NM_016156.6(MTMR2):c.567C>T (p.Asn189=)
|
rs1864293535
|
0.00001
|
NM_016156.6(MTMR2):c.572C>T (p.Pro191Leu)
|
rs1258314907
|
0.00001
|
NM_016156.6(MTMR2):c.626A>G (p.Tyr209Cys)
|
rs967619161
|
0.00001
|
NM_016156.6(MTMR2):c.654+13T>C
|
rs1170437168
|
0.00001
|
NM_016156.6(MTMR2):c.75G>A (p.Leu25=)
|
rs1376231939
|
0.00001
|
NM_016156.6(MTMR2):c.77C>T (p.Ser26Phe)
|
rs1295900396
|
0.00001
|
NM_016156.6(MTMR2):c.791G>A (p.Arg264Lys)
|
rs1590984978
|
0.00001
|
NM_016156.6(MTMR2):c.797G>A (p.Arg266His)
|
rs775237206
|
0.00001
|
NM_016156.6(MTMR2):c.805-9C>G
|
rs767328220
|
0.00001
|
NM_016156.6(MTMR2):c.81-4G>C
|
rs757563852
|
0.00001
|
NM_016156.6(MTMR2):c.81-7T>G
|
rs750842659
|
0.00001
|
NM_016156.6(MTMR2):c.829A>C (p.Ser277Arg)
|
rs779257949
|
0.00001
|
NM_016156.6(MTMR2):c.848G>A (p.Arg283Gln)
|
rs374629187
|
0.00001
|
NM_016156.6(MTMR2):c.884G>A (p.Arg295Gln)
|
rs777854770
|
0.00001
|
NM_016156.6(MTMR2):c.92C>T (p.Ser31Phe)
|
rs748872681
|
0.00001
|
NM_016156.6(MTMR2):c.984T>C (p.Val328=)
|
rs116691712
|
0.00001
|
NM_018972.4(GDAP1):c.102C>G (p.Ser34=)
|
rs7828201
|
0.00001
|
NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg)
|
rs1448664085
|
0.00001
|
NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr)
|
rs756121249
|
0.00001
|
NM_018972.4(GDAP1):c.120G>A (p.Val40=)
|
rs1031865271
|
0.00001
|
NM_018972.4(GDAP1):c.151T>C (p.Cys51Arg)
|
rs960211384
|
0.00001
|
NM_018972.4(GDAP1):c.153C>T (p.Cys51=)
|
rs1413222465
|
0.00001
|
NM_018972.4(GDAP1):c.161A>G (p.His54Arg)
|
rs1441803924
|
0.00001
|
NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser)
|
rs769632836
|
0.00001
|
NM_018972.4(GDAP1):c.209G>T (p.Arg70Leu)
|
rs775739690
|
0.00001
|
NM_018972.4(GDAP1):c.216C>T (p.Asn72=)
|
rs760859999
|
0.00001
|
NM_018972.4(GDAP1):c.225A>G (p.Gly75=)
|
rs761890773
|
0.00001
|
NM_018972.4(GDAP1):c.311-15G>A
|
rs373622064
|
0.00001
|
NM_018972.4(GDAP1):c.311-1G>A
|
rs1370011538
|
0.00001
|
NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter)
|
rs751986220
|
0.00001
|
NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg)
|
rs1290008555
|
0.00001
|
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)
|
rs281865060
|
0.00001
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)
|
rs745663149
|
0.00001
|
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn)
|
rs1279013936
|
0.00001
|
NM_018972.4(GDAP1):c.400G>T (p.Asp134Tyr)
|
rs1809295867
|
0.00001
|
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe)
|
rs1375032292
|
0.00001
|
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
|
rs538412810
|
0.00001
|
NM_018972.4(GDAP1):c.471T>G (p.Thr157=)
|
rs886293648
|
0.00001
|
NM_018972.4(GDAP1):c.484+4T>C
|
rs1318164702
|
0.00001
|
NM_018972.4(GDAP1):c.485-6T>C
|
rs763802909
|
0.00001
|
NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro)
|
rs1362886530
|
0.00001
|
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys)
|
rs1475695228
|
0.00001
|
NM_018972.4(GDAP1):c.544C>T (p.Gln182Ter)
|
rs779894269
|
0.00001
|
NM_018972.4(GDAP1):c.577A>C (p.Lys193Gln)
|
rs1085307665
|
0.00001
|
NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly)
|
rs376868259
|
0.00001
|
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser)
|
rs878855054
|
0.00001
|
NM_018972.4(GDAP1):c.619A>G (p.Lys207Glu)
|
rs1443360585
|
0.00001
|
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr)
|
rs140384868
|
0.00001
|
NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser)
|
rs1026680509
|
0.00001
|
NM_018972.4(GDAP1):c.695-9T>A
|
rs906225606
|
0.00001
|
NM_018972.4(GDAP1):c.70G>T (p.Val24Phe)
|
rs1406620213
|
0.00001
|
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg)
|
rs763963750
|
0.00001
|
NM_018972.4(GDAP1):c.745G>A (p.Val249Ile)
|
rs753181104
|
0.00001
|
NM_018972.4(GDAP1):c.753C>T (p.Leu251=)
|
rs1285748573
|
0.00001
|
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr)
|
rs778105019
|
0.00001
|
NM_018972.4(GDAP1):c.767A>G (p.His256Arg)
|
rs1476856429
|
0.00001
|
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)
|
rs770501034
|
0.00001
|
NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln)
|
rs1425323007
|
0.00001
|
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)
|
rs28937906
|
0.00001
|
NM_018972.4(GDAP1):c.846T>A (p.Arg282=)
|
rs751766713
|
0.00001
|
NM_018972.4(GDAP1):c.864A>G (p.Thr288=)
|
rs1452402318
|
0.00001
|
NM_018972.4(GDAP1):c.874G>A (p.Val292Ile)
|
rs767553697
|
0.00001
|
NM_018972.4(GDAP1):c.892A>C (p.Asn298His)
|
rs1470584902
|
0.00001
|
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser)
|
rs368055667
|
0.00001
|
NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala)
|
rs1356175561
|
0.00001
|
NM_018972.4(GDAP1):c.985C>T (p.Leu329Phe)
|
rs879254196
|
0.00001
|
NM_024577.4(SH3TC2):c.1002-5T>A
|
rs769711653
|
0.00001
|
NM_024577.4(SH3TC2):c.1002-8C>T
|
rs748766254
|
0.00001
|
NM_024577.4(SH3TC2):c.1006A>G (p.Arg336Gly)
|
rs781032352
|
0.00001
|
NM_024577.4(SH3TC2):c.1029T>C (p.Asp343=)
|
rs779061354
|
0.00001
|
NM_024577.4(SH3TC2):c.1130G>A (p.Arg377Gln)
|
rs1450931349
|
0.00001
|
NM_024577.4(SH3TC2):c.1135+15T>G
|
rs765853048
|
0.00001
|
NM_024577.4(SH3TC2):c.1140G>C (p.Gly380=)
|
rs768932852
|
0.00001
|
NM_024577.4(SH3TC2):c.1177+14A>G
|
rs1217015867
|
0.00001
|
NM_024577.4(SH3TC2):c.1196T>A (p.Phe399Tyr)
|
rs763564639
|
0.00001
|
NM_024577.4(SH3TC2):c.11G>T (p.Cys4Phe)
|
rs562967549
|
0.00001
|
NM_024577.4(SH3TC2):c.1217G>T (p.Arg406Ile)
|
rs761907624
|
0.00001
|
NM_024577.4(SH3TC2):c.122A>G (p.Lys41Arg)
|
rs759096245
|
0.00001
|
NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=)
|
rs748870159
|
0.00001
|
NM_024577.4(SH3TC2):c.1260C>A (p.Ser420Arg)
|
rs766814812
|
0.00001
|
NM_024577.4(SH3TC2):c.1265C>T (p.Ser422Phe)
|
rs754865697
|
0.00001
|
NM_024577.4(SH3TC2):c.1287G>A (p.Glu429=)
|
rs1237348677
|
0.00001
|
NM_024577.4(SH3TC2):c.1305C>T (p.Thr435=)
|
rs774971119
|
0.00001
|
NM_024577.4(SH3TC2):c.1311C>T (p.Asp437=)
|
rs749587305
|
0.00001
|
NM_024577.4(SH3TC2):c.1319G>A (p.Arg440His)
|
rs755748579
|
0.00001
|
NM_024577.4(SH3TC2):c.1320C>A (p.Arg440=)
|
rs1361033420
|
0.00001
|
NM_024577.4(SH3TC2):c.1325C>T (p.Pro442Leu)
|
rs370613184
|
0.00001
|
NM_024577.4(SH3TC2):c.1335T>G (p.Asp445Glu)
|
rs1234203055
|
0.00001
|
NM_024577.4(SH3TC2):c.1355T>C (p.Leu452Pro)
|
rs1235312791
|
0.00001
|
NM_024577.4(SH3TC2):c.1383G>T (p.Glu461Asp)
|
rs1326032447
|
0.00001
|
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)
|
rs749850181
|
0.00001
|
NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=)
|
rs887057321
|
0.00001
|
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys)
|
rs757167683
|
0.00001
|
NM_024577.4(SH3TC2):c.1448T>G (p.Phe483Cys)
|
rs751644174
|
0.00001
|
NM_024577.4(SH3TC2):c.1460A>G (p.Tyr487Cys)
|
rs763417948
|
0.00001
|
NM_024577.4(SH3TC2):c.1468T>G (p.Ser490Ala)
|
rs372841815
|
0.00001
|
NM_024577.4(SH3TC2):c.151+11G>A
|
rs773004267
|
0.00001
|
NM_024577.4(SH3TC2):c.152-14C>G
|
rs1019701436
|
0.00001
|
NM_024577.4(SH3TC2):c.152-8T>A
|
rs1350673664
|
0.00001
|
NM_024577.4(SH3TC2):c.1584C>T (p.Ala528=)
|
rs762967613
|
0.00001
|
NM_024577.4(SH3TC2):c.1585C>T (p.Arg529Cys)
|
rs750529207
|
0.00001
|
NM_024577.4(SH3TC2):c.1606C>T (p.Arg536Trp)
|
rs777043032
|
0.00001
|
NM_024577.4(SH3TC2):c.1632C>G (p.Leu544=)
|
rs771050155
|
0.00001
|
NM_024577.4(SH3TC2):c.1639G>A (p.Ala547Thr)
|
rs1324539774
|
0.00001
|
NM_024577.4(SH3TC2):c.1641C>T (p.Ala547=)
|
rs1265312422
|
0.00001
|
NM_024577.4(SH3TC2):c.1651T>C (p.Phe551Leu)
|
rs1554121720
|
0.00001
|
NM_024577.4(SH3TC2):c.1763G>T (p.Gly588Val)
|
rs760899669
|
0.00001
|
NM_024577.4(SH3TC2):c.179G>A (p.Ser60Asn)
|
rs1436597179
|
0.00001
|
NM_024577.4(SH3TC2):c.182G>A (p.Arg61His)
|
rs376389928
|
0.00001
|
NM_024577.4(SH3TC2):c.1832A>G (p.His611Arg)
|
rs1252838387
|
0.00001
|
NM_024577.4(SH3TC2):c.183C>T (p.Arg61=)
|
rs1754494929
|
0.00001
|
NM_024577.4(SH3TC2):c.1840G>A (p.Asp614Asn)
|
rs201789838
|
0.00001
|
NM_024577.4(SH3TC2):c.1877T>C (p.Val626Ala)
|
rs779061678
|
0.00001
|
NM_024577.4(SH3TC2):c.1889C>T (p.Pro630Leu)
|
rs749260578
|
0.00001
|
NM_024577.4(SH3TC2):c.1915G>A (p.Ala639Thr)
|
rs781671812
|
0.00001
|
NM_024577.4(SH3TC2):c.1978C>T (p.Gln660Ter)
|
rs1554121665
|
0.00001
|
NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr)
|
rs201985394
|
0.00001
|
NM_024577.4(SH3TC2):c.2039A>G (p.Tyr680Cys)
|
rs763952745
|
0.00001
|
NM_024577.4(SH3TC2):c.2041G>T (p.Asp681Tyr)
|
rs1329516289
|
0.00001
|
NM_024577.4(SH3TC2):c.2083C>G (p.Gln695Glu)
|
rs770170997
|
0.00001
|
NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter)
|
rs864622663
|
0.00001
|
NM_024577.4(SH3TC2):c.2130G>A (p.Gln710=)
|
rs763652479
|
0.00001
|
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu)
|
rs1303051798
|
0.00001
|
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys)
|
rs779075488
|
0.00001
|
NM_024577.4(SH3TC2):c.2247A>G (p.Glu749=)
|
rs375251955
|
0.00001
|
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln)
|
rs749772988
|
0.00001
|
NM_024577.4(SH3TC2):c.2256C>G (p.Asp752Glu)
|
rs897500539
|
0.00001
|
NM_024577.4(SH3TC2):c.2305G>A (p.Glu769Lys)
|
rs764436192
|
0.00001
|
NM_024577.4(SH3TC2):c.2309A>G (p.His770Arg)
|
rs926165676
|
0.00001
|
NM_024577.4(SH3TC2):c.230G>A (p.Arg77Gln)
|
rs756666549
|
0.00001
|
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser)
|
rs1416387782
|
0.00001
|
NM_024577.4(SH3TC2):c.2352G>T (p.Leu784Phe)
|
rs754938951
|
0.00001
|
NM_024577.4(SH3TC2):c.2407G>A (p.Ala803Thr)
|
rs377434575
|
0.00001
|
NM_024577.4(SH3TC2):c.2470T>C (p.Cys824Arg)
|
rs1554121601
|
0.00001
|
NM_024577.4(SH3TC2):c.2506G>A (p.Gly836Arg)
|
rs768389060
|
0.00001
|
NM_024577.4(SH3TC2):c.2516A>G (p.Tyr839Cys)
|
rs202139757
|
0.00001
|
NM_024577.4(SH3TC2):c.2520C>T (p.Asn840=)
|
rs371588176
|
0.00001
|
NM_024577.4(SH3TC2):c.2528G>A (p.Gly843Glu)
|
rs1463859150
|
0.00001
|
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val)
|
rs1463859150
|
0.00001
|
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=)
|
rs1406112399
|
0.00001
|
NM_024577.4(SH3TC2):c.2581C>T (p.Arg861Trp)
|
rs147490172
|
0.00001
|
NM_024577.4(SH3TC2):c.2607G>A (p.Val869=)
|
rs771752979
|
0.00001
|
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)
|
rs80338930
|
0.00001
|
NM_024577.4(SH3TC2):c.264G>A (p.Val88=)
|
rs1337938229
|
0.00001
|
NM_024577.4(SH3TC2):c.2749A>G (p.Met917Val)
|
rs1232735360
|
0.00001
|
NM_024577.4(SH3TC2):c.2775G>A (p.Trp925Ter)
|
rs757701609
|
0.00001
|
NM_024577.4(SH3TC2):c.279+1G>A
|
rs1198337036
|
0.00001
|
NM_024577.4(SH3TC2):c.279+4A>G
|
rs371909418
|
0.00001
|
NM_024577.4(SH3TC2):c.280-4G>A
|
rs747321591
|
0.00001
|
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)
|
rs80338932
|
0.00001
|
NM_024577.4(SH3TC2):c.2872+13C>T
|
rs1424568850
|
0.00001
|
NM_024577.4(SH3TC2):c.2872+19G>T
|
rs569935040
|
0.00001
|
NM_024577.4(SH3TC2):c.2872+20C>T
|
rs372528082
|
0.00001
|
NM_024577.4(SH3TC2):c.2873-16C>T
|
rs1387099711
|
0.00001
|
NM_024577.4(SH3TC2):c.2894C>T (p.Ser965Phe)
|
rs1220087441
|
0.00001
|
NM_024577.4(SH3TC2):c.2907C>T (p.Phe969=)
|
rs1238822178
|
0.00001
|
NM_024577.4(SH3TC2):c.2951A>G (p.His984Arg)
|
rs978452363
|
0.00001
|
NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp)
|
rs541197556
|
0.00001
|
NM_024577.4(SH3TC2):c.3048C>T (p.Thr1016=)
|
rs375266719
|
0.00001
|
NM_024577.4(SH3TC2):c.3097A>G (p.Ile1033Val)
|
rs794727104
|
0.00001
|
NM_024577.4(SH3TC2):c.3116A>C (p.Glu1039Ala)
|
rs777209545
|
0.00001
|
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361
|
0.00001
|
NM_024577.4(SH3TC2):c.3149C>T (p.Ala1050Val)
|
rs570067509
|
0.00001
|
NM_024577.4(SH3TC2):c.3157C>T (p.Leu1053Phe)
|
rs772753479
|
0.00001
|
NM_024577.4(SH3TC2):c.3160C>T (p.His1054Tyr)
|
rs769133498
|
0.00001
|
NM_024577.4(SH3TC2):c.3204+17G>A
|
rs377068951
|
0.00001
|
NM_024577.4(SH3TC2):c.3204+6C>T
|
rs763394102
|
0.00001
|
NM_024577.4(SH3TC2):c.3211A>G (p.Ile1071Val)
|
rs1753764548
|
0.00001
|
NM_024577.4(SH3TC2):c.3254A>G (p.Lys1085Arg)
|
rs750149369
|
0.00001
|
NM_024577.4(SH3TC2):c.3283T>C (p.Phe1095Leu)
|
rs1248817393
|
0.00001
|
NM_024577.4(SH3TC2):c.3286A>G (p.Asn1096Asp)
|
rs1228973233
|
0.00001
|
NM_024577.4(SH3TC2):c.3295C>T (p.Arg1099Cys)
|
rs769907612
|
0.00001
|
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His)
|
rs748413646
|
0.00001
|
NM_024577.4(SH3TC2):c.3308A>G (p.His1103Arg)
|
rs780363659
|
0.00001
|
NM_024577.4(SH3TC2):c.3313G>A (p.Val1105Met)
|
rs750746661
|
0.00001
|
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val)
|
rs200801053
|
0.00001
|
NM_024577.4(SH3TC2):c.3340C>G (p.Pro1114Ala)
|
rs757935041
|
0.00001
|
NM_024577.4(SH3TC2):c.3374A>G (p.Glu1125Gly)
|
rs1169028062
|
0.00001
|
NM_024577.4(SH3TC2):c.3409A>G (p.Ile1137Val)
|
rs913598475
|
0.00001
|
NM_024577.4(SH3TC2):c.3417C>T (p.Leu1139=)
|
rs367649953
|
0.00001
|
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462
|
0.00001
|
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=)
|
rs762263591
|
0.00001
|
NM_024577.4(SH3TC2):c.3526T>G (p.Tyr1176Asp)
|
rs777028943
|
0.00001
|
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=)
|
rs747405272
|
0.00001
|
NM_024577.4(SH3TC2):c.3538C>A (p.His1180Asn)
|
rs201876002
|
0.00001
|
NM_024577.4(SH3TC2):c.3546T>C (p.Tyr1182=)
|
rs757190448
|
0.00001
|
NM_024577.4(SH3TC2):c.3549G>A (p.Glu1183=)
|
rs749235873
|
0.00001
|
NM_024577.4(SH3TC2):c.3596G>A (p.Trp1199Ter)
|
rs761972717
|
0.00001
|
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter)
|
rs1248359114
|
0.00001
|
NM_024577.4(SH3TC2):c.3676-15A>G
|
rs770644656
|
0.00001
|
NM_024577.4(SH3TC2):c.3681C>T (p.Ala1227=)
|
rs760036395
|
0.00001
|
NM_024577.4(SH3TC2):c.3682C>T (p.His1228Tyr)
|
rs1371380897
|
0.00001
|
NM_024577.4(SH3TC2):c.3710C>T (p.Ala1237Val)
|
rs778953792
|
0.00001
|
NM_024577.4(SH3TC2):c.3723G>A (p.Ala1241=)
|
rs777895612
|
0.00001
|
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter)
|
rs1754425732
|
0.00001
|
NM_024577.4(SH3TC2):c.3760A>G (p.Arg1254Gly)
|
rs765921861
|
0.00001
|
NM_024577.4(SH3TC2):c.3761G>A (p.Arg1254Lys)
|
rs1229941957
|
0.00001
|
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr)
|
rs781625125
|
0.00001
|
NM_024577.4(SH3TC2):c.386-2A>C
|
rs145670786
|
0.00001
|
NM_024577.4(SH3TC2):c.390C>T (p.Tyr130=)
|
rs776623792
|
0.00001
|
NM_024577.4(SH3TC2):c.429G>A (p.Lys143=)
|
rs748964376
|
0.00001
|
NM_024577.4(SH3TC2):c.443G>A (p.Cys148Tyr)
|
rs1483097983
|
0.00001
|
NM_024577.4(SH3TC2):c.450G>C (p.Leu150Phe)
|
rs542260900
|
0.00001
|
NM_024577.4(SH3TC2):c.509T>G (p.Leu170Arg)
|
rs1754392249
|
0.00001
|
NM_024577.4(SH3TC2):c.529+1G>A
|
rs769410348
|
0.00001
|
NM_024577.4(SH3TC2):c.53-3C>T
|
rs771541595
|
0.00001
|
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met)
|
rs745613768
|
0.00001
|
NM_024577.4(SH3TC2):c.56A>G (p.Lys19Arg)
|
rs778863028
|
0.00001
|
NM_024577.4(SH3TC2):c.574G>A (p.Glu192Lys)
|
rs755054839
|
0.00001
|
NM_024577.4(SH3TC2):c.578A>G (p.Lys193Arg)
|
rs569256459
|
0.00001
|
NM_024577.4(SH3TC2):c.579G>A (p.Lys193=)
|
rs752087220
|
0.00001
|
NM_024577.4(SH3TC2):c.596C>T (p.Thr199Ile)
|
rs368872316
|
0.00001
|
NM_024577.4(SH3TC2):c.629T>C (p.Met210Thr)
|
rs1472681520
|
0.00001
|
NM_024577.4(SH3TC2):c.635A>G (p.Glu212Gly)
|
rs774120657
|
0.00001
|
NM_024577.4(SH3TC2):c.646G>A (p.Glu216Lys)
|
rs867509336
|
0.00001
|
NM_024577.4(SH3TC2):c.657C>T (p.Gly219=)
|
rs781321213
|
0.00001
|
NM_024577.4(SH3TC2):c.658G>A (p.Val220Met)
|
rs1428903431
|
0.00001
|
NM_024577.4(SH3TC2):c.680G>A (p.Arg227Gln)
|
rs1257812868
|
0.00001
|
NM_024577.4(SH3TC2):c.702C>T (p.Ala234=)
|
rs1242725383
|
0.00001
|
NM_024577.4(SH3TC2):c.708G>A (p.Glu236=)
|
rs774923539
|
0.00001
|
NM_024577.4(SH3TC2):c.713T>G (p.Leu238Arg)
|
rs1210345750
|
0.00001
|
NM_024577.4(SH3TC2):c.732-16A>G
|
rs201017707
|
0.00001
|
NM_024577.4(SH3TC2):c.739C>G (p.Leu247Val)
|
rs772820273
|
0.00001
|
NM_024577.4(SH3TC2):c.75T>A (p.Asp25Glu)
|
rs755164059
|
0.00001
|
NM_024577.4(SH3TC2):c.789A>G (p.Thr263=)
|
rs780777249
|
0.00001
|
NM_024577.4(SH3TC2):c.798T>G (p.Tyr266Ter)
|
rs377509077
|
0.00001
|
NM_024577.4(SH3TC2):c.806-2A>G
|
rs1041389207
|
0.00001
|
NM_024577.4(SH3TC2):c.815G>A (p.Arg272His)
|
rs746737375
|
0.00001
|
NM_024577.4(SH3TC2):c.82G>C (p.Val28Leu)
|
rs1399431033
|
0.00001
|
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met)
|
rs757969875
|
0.00001
|
NM_024577.4(SH3TC2):c.855T>C (p.Asp285=)
|
rs773193703
|
0.00001
|
NM_024577.4(SH3TC2):c.880A>T (p.Ser294Cys)
|
rs748663288
|
0.00001
|
NM_024577.4(SH3TC2):c.89G>A (p.Ser30Asn)
|
rs765890403
|
0.00001
|
NM_024577.4(SH3TC2):c.904A>G (p.Ile302Val)
|
rs745345448
|
0.00001
|
NM_024577.4(SH3TC2):c.924C>A (p.Phe308Leu)
|
rs753884201
|
0.00001
|
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=)
|
rs144520038
|
0.00001
|
NM_024577.4(SH3TC2):c.956G>T (p.Gly319Val)
|
rs753423455
|
0.00001
|
NM_030962.4(SBF2):c.1025G>A (p.Arg342Gln)
|
rs954771068
|
0.00001
|
NM_030962.4(SBF2):c.1050G>A (p.Met350Ile)
|
rs1947549366
|
0.00001
|
NM_030962.4(SBF2):c.1053+8G>A
|
rs779888479
|
0.00001
|
NM_030962.4(SBF2):c.1061A>C (p.Glu354Ala)
|
rs761829741
|
0.00001
|
NM_030962.4(SBF2):c.1062G>A (p.Glu354=)
|
rs376956314
|
0.00001
|
NM_030962.4(SBF2):c.1066C>T (p.Arg356Ter)
|
rs1032796987
|
0.00001
|
NM_030962.4(SBF2):c.1071C>T (p.Ala357=)
|
rs775272908
|
0.00001
|
NM_030962.4(SBF2):c.1083A>G (p.Arg361=)
|
rs1362168505
|
0.00001
|
NM_030962.4(SBF2):c.109G>C (p.Asp37His)
|
rs759977048
|
0.00001
|
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg)
|
rs770153492
|
0.00001
|
NM_030962.4(SBF2):c.1158T>G (p.His386Gln)
|
rs780071398
|
0.00001
|
NM_030962.4(SBF2):c.1163A>G (p.His388Arg)
|
rs1397329019
|
0.00001
|
NM_030962.4(SBF2):c.1167+20T>C
|
rs1947507309
|
0.00001
|
NM_030962.4(SBF2):c.1168-10T>C
|
rs769153339
|
0.00001
|
NM_030962.4(SBF2):c.118C>T (p.Pro40Ser)
|
rs1194397200
|
0.00001
|
NM_030962.4(SBF2):c.1222C>T (p.Leu408Phe)
|
rs1220835376
|
0.00001
|
NM_030962.4(SBF2):c.1226G>T (p.Ser409Ile)
|
rs1183650459
|
0.00001
|
NM_030962.4(SBF2):c.1236A>G (p.Ala412=)
|
rs1947481198
|
0.00001
|
NM_030962.4(SBF2):c.1277C>A (p.Ser426Tyr)
|
rs759009170
|
0.00001
|
NM_030962.4(SBF2):c.1296+12A>G
|
rs762099135
|
0.00001
|
NM_030962.4(SBF2):c.1296+7C>T
|
rs774033750
|
0.00001
|
NM_030962.4(SBF2):c.1316A>T (p.Glu439Val)
|
rs754505342
|
0.00001
|
NM_030962.4(SBF2):c.1337A>G (p.Asn446Ser)
|
rs762615474
|
0.00001
|
NM_030962.4(SBF2):c.1345G>C (p.Val449Leu)
|
rs1441833591
|
0.00001
|
NM_030962.4(SBF2):c.1386A>G (p.Leu462=)
|
rs774591496
|
0.00001
|
NM_030962.4(SBF2):c.141+5G>A
|
rs1284700305
|
0.00001
|
NM_030962.4(SBF2):c.141+9T>A
|
rs760322801
|
0.00001
|
NM_030962.4(SBF2):c.142-20T>G
|
rs748235053
|
0.00001
|
NM_030962.4(SBF2):c.1460G>A (p.Arg487Gln)
|
rs538390886
|
0.00001
|
NM_030962.4(SBF2):c.1582C>G (p.Pro528Ala)
|
rs745328047
|
0.00001
|
NM_030962.4(SBF2):c.1584A>G (p.Pro528=)
|
rs778311686
|
0.00001
|
NM_030962.4(SBF2):c.1593A>G (p.Pro531=)
|
rs1245602198
|
0.00001
|
NM_030962.4(SBF2):c.1594C>T (p.Pro532Ser)
|
rs1001858508
|
0.00001
|
NM_030962.4(SBF2):c.1598T>C (p.Val533Ala)
|
rs756897983
|
0.00001
|
NM_030962.4(SBF2):c.1604C>T (p.Ser535Leu)
|
rs542028180
|
0.00001
|
NM_030962.4(SBF2):c.1610T>C (p.Met537Thr)
|
rs1278738726
|
0.00001
|
NM_030962.4(SBF2):c.1635C>T (p.Asn545=)
|
rs1160157353
|
0.00001
|
NM_030962.4(SBF2):c.1653A>G (p.Glu551=)
|
rs942849510
|
0.00001
|
NM_030962.4(SBF2):c.1725A>C (p.Ala575=)
|
rs144514407
|
0.00001
|
NM_030962.4(SBF2):c.1770T>C (p.Asp590=)
|
rs149269991
|
0.00001
|
NM_030962.4(SBF2):c.1799G>A (p.Arg600Gln)
|
rs185968327
|
0.00001
|
NM_030962.4(SBF2):c.1815T>C (p.His605=)
|
rs1388471263
|
0.00001
|
NM_030962.4(SBF2):c.1839G>A (p.Arg613=)
|
rs776414901
|
0.00001
|
NM_030962.4(SBF2):c.1847A>G (p.Asn616Ser)
|
rs1043801815
|
0.00001
|
NM_030962.4(SBF2):c.1852A>G (p.Thr618Ala)
|
rs779355592
|
0.00001
|
NM_030962.4(SBF2):c.1854T>G (p.Thr618=)
|
rs1224103000
|
0.00001
|
NM_030962.4(SBF2):c.1860+12T>C
|
rs375954445
|
0.00001
|
NM_030962.4(SBF2):c.1879G>T (p.Glu627Ter)
|
rs1433023728
|
0.00001
|
NM_030962.4(SBF2):c.1893C>T (p.Ala631=)
|
rs760154688
|
0.00001
|
NM_030962.4(SBF2):c.1897G>A (p.Ala633Thr)
|
rs775198025
|
0.00001
|
NM_030962.4(SBF2):c.1902A>T (p.Leu634Phe)
|
rs1861220165
|
0.00001
|
NM_030962.4(SBF2):c.192G>A (p.Thr64=)
|
rs763363470
|
0.00001
|
NM_030962.4(SBF2):c.1964C>T (p.Thr655Met)
|
rs777190196
|
0.00001
|
NM_030962.4(SBF2):c.2024A>G (p.Asn675Ser)
|
rs375407366
|
0.00001
|
NM_030962.4(SBF2):c.20_21del (p.Tyr7fs)
|
rs1270869520
|
0.00001
|
NM_030962.4(SBF2):c.2100+7G>A
|
rs370918433
|
0.00001
|
NM_030962.4(SBF2):c.2101G>A (p.Asp701Asn)
|
rs746473762
|
0.00001
|
NM_030962.4(SBF2):c.2113G>A (p.Asp705Asn)
|
rs1388585918
|
0.00001
|
NM_030962.4(SBF2):c.2155G>A (p.Glu719Lys)
|
rs149162783
|
0.00001
|
NM_030962.4(SBF2):c.2165G>A (p.Arg722His)
|
rs768079951
|
0.00001
|
NM_030962.4(SBF2):c.2181G>A (p.Leu727=)
|
rs1376193402
|
0.00001
|
NM_030962.4(SBF2):c.2254A>G (p.Asn752Asp)
|
rs775455068
|
0.00001
|
NM_030962.4(SBF2):c.2259C>T (p.Leu753=)
|
rs771467991
|
0.00001
|
NM_030962.4(SBF2):c.2269C>T (p.Leu757=)
|
rs370321615
|
0.00001
|
NM_030962.4(SBF2):c.2283C>T (p.Leu761=)
|
rs781716972
|
0.00001
|
NM_030962.4(SBF2):c.2284G>A (p.Asp762Asn)
|
rs929805760
|
0.00001
|
NM_030962.4(SBF2):c.230G>A (p.Arg77Gln)
|
rs747102118
|
0.00001
|
NM_030962.4(SBF2):c.2318C>T (p.Ala773Val)
|
rs750527598
|
0.00001
|
NM_030962.4(SBF2):c.2338G>A (p.Gly780Arg)
|
rs775404093
|
0.00001
|
NM_030962.4(SBF2):c.2388C>G (p.Ser796Arg)
|
rs1857121600
|
0.00001
|
NM_030962.4(SBF2):c.2394T>C (p.Asp798=)
|
rs767309728
|
0.00001
|
NM_030962.4(SBF2):c.2431A>G (p.Ile811Val)
|
rs764765082
|
0.00001
|
NM_030962.4(SBF2):c.2447T>C (p.Val816Ala)
|
rs982821887
|
0.00001
|
NM_030962.4(SBF2):c.2492G>A (p.Gly831Glu)
|
rs770201190
|
0.00001
|
NM_030962.4(SBF2):c.2516G>C (p.Ser839Thr)
|
rs1060500002
|
0.00001
|
NM_030962.4(SBF2):c.2523T>C (p.His841=)
|
rs143617524
|
0.00001
|
NM_030962.4(SBF2):c.2546C>T (p.Ala849Val)
|
rs751319241
|
0.00001
|
NM_030962.4(SBF2):c.2579G>A (p.Arg860Gln)
|
rs1210393129
|
0.00001
|
NM_030962.4(SBF2):c.2610+11A>G
|
rs375912268
|
0.00001
|
NM_030962.4(SBF2):c.2619T>C (p.Ile873=)
|
rs1168090388
|
0.00001
|
NM_030962.4(SBF2):c.2662G>A (p.Gly888Ser)
|
rs369589966
|
0.00001
|
NM_030962.4(SBF2):c.2668C>T (p.Arg890Ter)
|
rs1413469900
|
0.00001
|
NM_030962.4(SBF2):c.2669G>A (p.Arg890Gln)
|
rs755699993
|
0.00001
|
NM_030962.4(SBF2):c.2681A>G (p.Asp894Gly)
|
rs552340604
|
0.00001
|
NM_030962.4(SBF2):c.2704A>G (p.Thr902Ala)
|
rs376463609
|
0.00001
|
NM_030962.4(SBF2):c.2716C>A (p.Leu906Ile)
|
rs760903950
|
0.00001
|
NM_030962.4(SBF2):c.2776C>A (p.Leu926Ile)
|
rs1193714532
|
0.00001
|
NM_030962.4(SBF2):c.2804T>C (p.Leu935Ser)
|
rs751248866
|
0.00001
|
NM_030962.4(SBF2):c.2806+20C>T
|
rs760777294
|
0.00001
|
NM_030962.4(SBF2):c.2807-10C>G
|
rs1392834610
|
0.00001
|
NM_030962.4(SBF2):c.2819C>T (p.Thr940Ile)
|
rs756720332
|
0.00001
|
NM_030962.4(SBF2):c.2872A>G (p.Met958Val)
|
rs901770002
|
0.00001
|
NM_030962.4(SBF2):c.2882A>G (p.Gln961Arg)
|
rs776603587
|
0.00001
|
NM_030962.4(SBF2):c.2934+7A>C
|
rs1475155503
|
0.00001
|
NM_030962.4(SBF2):c.2935-3T>A
|
rs202116086
|
0.00001
|
NM_030962.4(SBF2):c.2963T>G (p.Val988Gly)
|
rs778766567
|
0.00001
|
NM_030962.4(SBF2):c.3011G>A (p.Arg1004His)
|
rs1157037356
|
0.00001
|
NM_030962.4(SBF2):c.3040G>A (p.Ala1014Thr)
|
rs1404127728
|
0.00001
|
NM_030962.4(SBF2):c.3082A>G (p.Lys1028Glu)
|
rs929108873
|
0.00001
|
NM_030962.4(SBF2):c.3086A>G (p.Gln1029Arg)
|
rs1297679145
|
0.00001
|
NM_030962.4(SBF2):c.30G>A (p.Val10=)
|
rs1398535918
|
0.00001
|
NM_030962.4(SBF2):c.3110+5G>T
|
rs898995159
|
0.00001
|
NM_030962.4(SBF2):c.3155A>G (p.Lys1052Arg)
|
rs556594133
|
0.00001
|
NM_030962.4(SBF2):c.3165T>C (p.Ile1055=)
|
rs1478321308
|
0.00001
|
NM_030962.4(SBF2):c.3189G>A (p.Lys1063=)
|
rs889481914
|
0.00001
|
NM_030962.4(SBF2):c.318G>A (p.Val106=)
|
rs757678568
|
0.00001
|
NM_030962.4(SBF2):c.3203T>G (p.Ile1068Ser)
|
rs765970008
|
0.00001
|
NM_030962.4(SBF2):c.3257-10A>T
|
rs1348371983
|
0.00001
|
NM_030962.4(SBF2):c.3277C>T (p.Pro1093Ser)
|
rs953467120
|
0.00001
|
NM_030962.4(SBF2):c.3278C>T (p.Pro1093Leu)
|
rs762973514
|
0.00001
|
NM_030962.4(SBF2):c.3304G>A (p.Glu1102Lys)
|
rs778262784
|
0.00001
|
NM_030962.4(SBF2):c.3316A>G (p.Met1106Val)
|
rs753427715
|
0.00001
|
NM_030962.4(SBF2):c.3436A>T (p.Met1146Leu)
|
rs377277274
|
0.00001
|
NM_030962.4(SBF2):c.3445C>T (p.Leu1149Phe)
|
rs766709811
|
0.00001
|
NM_030962.4(SBF2):c.3451C>T (p.Arg1151Trp)
|
rs140550985
|
0.00001
|
NM_030962.4(SBF2):c.3452G>A (p.Arg1151Gln)
|
rs750893713
|
0.00001
|
NM_030962.4(SBF2):c.3466C>T (p.Leu1156Phe)
|
rs1433995523
|
0.00001
|
NM_030962.4(SBF2):c.3474C>T (p.Val1158=)
|
rs376295625
|
0.00001
|
NM_030962.4(SBF2):c.350C>G (p.Ala117Gly)
|
rs767514383
|
0.00001
|
NM_030962.4(SBF2):c.3517C>T (p.Arg1173Cys)
|
rs779290368
|
0.00001
|
NM_030962.4(SBF2):c.3518G>A (p.Arg1173His)
|
rs757577170
|
0.00001
|
NM_030962.4(SBF2):c.3526C>T (p.Arg1176Ter)
|
rs774667470
|
0.00001
|
NM_030962.4(SBF2):c.3527G>A (p.Arg1176Gln)
|
rs185264589
|
0.00001
|
NM_030962.4(SBF2):c.354C>T (p.Pro118=)
|
rs371771984
|
0.00001
|
NM_030962.4(SBF2):c.3565A>G (p.Arg1189Gly)
|
rs769777008
|
0.00001
|
NM_030962.4(SBF2):c.3598T>C (p.Phe1200Leu)
|
rs749729139
|
0.00001
|
NM_030962.4(SBF2):c.3615C>T (p.Val1205=)
|
rs751734412
|
0.00001
|
NM_030962.4(SBF2):c.3651C>T (p.Ala1217=)
|
rs550913752
|
0.00001
|
NM_030962.4(SBF2):c.3652+15A>G
|
rs367955902
|
0.00001
|
NM_030962.4(SBF2):c.3652G>A (p.Ala1218Thr)
|
rs763594624
|
0.00001
|
NM_030962.4(SBF2):c.3653-1G>A
|
rs145183196
|
0.00001
|
NM_030962.4(SBF2):c.3658A>G (p.Thr1220Ala)
|
rs753811515
|
0.00001
|
NM_030962.4(SBF2):c.3668T>C (p.Leu1223Ser)
|
rs760210827
|
0.00001
|
NM_030962.4(SBF2):c.3679A>G (p.Ser1227Gly)
|
rs368618956
|
0.00001
|
NM_030962.4(SBF2):c.3680G>C (p.Ser1227Thr)
|
rs1261598853
|
0.00001
|
NM_030962.4(SBF2):c.3686T>C (p.Ile1229Thr)
|
rs1443759629
|
0.00001
|
NM_030962.4(SBF2):c.3731T>C (p.Val1244Ala)
|
rs757063919
|
0.00001
|
NM_030962.4(SBF2):c.3762T>G (p.Leu1254=)
|
rs776896848
|
0.00001
|
NM_030962.4(SBF2):c.3770G>A (p.Arg1257Lys)
|
rs775982886
|
0.00001
|
NM_030962.4(SBF2):c.3794-19G>A
|
rs779377326
|
0.00001
|
NM_030962.4(SBF2):c.3811C>T (p.Arg1271Cys)
|
rs765001700
|
0.00001
|
NM_030962.4(SBF2):c.3814T>A (p.Ser1272Thr)
|
rs760386811
|
0.00001
|
NM_030962.4(SBF2):c.3823C>T (p.Arg1275Cys)
|
rs956737183
|
0.00001
|
NM_030962.4(SBF2):c.3876C>A (p.Gly1292=)
|
rs778401534
|
0.00001
|
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu)
|
rs767811228
|
0.00001
|
NM_030962.4(SBF2):c.3931A>G (p.Lys1311Glu)
|
rs200167746
|
0.00001
|
NM_030962.4(SBF2):c.3968C>T (p.Ser1323Leu)
|
rs369288449
|
0.00001
|
NM_030962.4(SBF2):c.3979-20C>A
|
rs1176068872
|
0.00001
|
NM_030962.4(SBF2):c.402+5A>G
|
rs1060503800
|
0.00001
|
NM_030962.4(SBF2):c.4051G>A (p.Ala1351Thr)
|
rs527347035
|
0.00001
|
NM_030962.4(SBF2):c.4102G>A (p.Asp1368Asn)
|
rs144063037
|
0.00001
|
NM_030962.4(SBF2):c.4113G>A (p.Val1371=)
|
rs1195911510
|
0.00001
|
NM_030962.4(SBF2):c.4118T>A (p.Phe1373Tyr)
|
rs753564262
|
0.00001
|
NM_030962.4(SBF2):c.4119C>T (p.Phe1373=)
|
rs772473795
|
0.00001
|
NM_030962.4(SBF2):c.4120C>G (p.Leu1374Val)
|
rs746286799
|
0.00001
|
NM_030962.4(SBF2):c.4123A>G (p.Lys1375Glu)
|
rs1217139040
|
0.00001
|
NM_030962.4(SBF2):c.4138T>A (p.Ser1380Thr)
|
rs1564876099
|
0.00001
|
NM_030962.4(SBF2):c.413G>C (p.Gly138Ala)
|
rs1949191748
|
0.00001
|
NM_030962.4(SBF2):c.4156-12C>G
|
rs779854941
|
0.00001
|
NM_030962.4(SBF2):c.4156-15C>T
|
rs746693765
|
0.00001
|
NM_030962.4(SBF2):c.4156-5C>G
|
rs966658773
|
0.00001
|
NM_030962.4(SBF2):c.4156C>G (p.Leu1386Val)
|
rs771436343
|
0.00001
|
NM_030962.4(SBF2):c.4180G>C (p.Val1394Leu)
|
rs142029000
|
0.00001
|
NM_030962.4(SBF2):c.4186G>A (p.Val1396Ile)
|
rs751799091
|
0.00001
|
NM_030962.4(SBF2):c.4204A>C (p.Asn1402His)
|
rs1590132478
|
0.00001
|
NM_030962.4(SBF2):c.4247T>C (p.Ile1416Thr)
|
rs370601742
|
0.00001
|
NM_030962.4(SBF2):c.4258-4C>G
|
rs757097139
|
0.00001
|
NM_030962.4(SBF2):c.4266C>T (p.Ser1422=)
|
rs763445946
|
0.00001
|
NM_030962.4(SBF2):c.427G>A (p.Val143Met)
|
rs142469360
|
0.00001
|
NM_030962.4(SBF2):c.4288C>T (p.Pro1430Ser)
|
rs1312716983
|
0.00001
|
NM_030962.4(SBF2):c.4335G>A (p.Glu1445=)
|
rs1370306059
|
0.00001
|
NM_030962.4(SBF2):c.4373G>A (p.Ser1458Asn)
|
rs1343934459
|
0.00001
|
NM_030962.4(SBF2):c.4416C>T (p.Phe1472=)
|
rs1347990916
|
0.00001
|
NM_030962.4(SBF2):c.4443+20G>A
|
rs370632930
|
0.00001
|
NM_030962.4(SBF2):c.4443+6T>C
|
rs1450773584
|
0.00001
|
NM_030962.4(SBF2):c.444del (p.Asn149fs)
|
rs1295003959
|
0.00001
|
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser)
|
rs1590103742
|
0.00001
|
NM_030962.4(SBF2):c.446A>G (p.Asn149Ser)
|
rs1337725457
|
0.00001
|
NM_030962.4(SBF2):c.4509C>T (p.His1503=)
|
rs138816399
|
0.00001
|
NM_030962.4(SBF2):c.4570+11G>A
|
rs370065558
|
0.00001
|
NM_030962.4(SBF2):c.4640G>A (p.Arg1547Lys)
|
rs200338241
|
0.00001
|
NM_030962.4(SBF2):c.4659C>T (p.Pro1553=)
|
rs368478401
|
0.00001
|
NM_030962.4(SBF2):c.4666T>C (p.Phe1556Leu)
|
rs189911105
|
0.00001
|
NM_030962.4(SBF2):c.474C>G (p.Asn158Lys)
|
rs745535685
|
0.00001
|
NM_030962.4(SBF2):c.4795C>T (p.Leu1599=)
|
rs926646414
|
0.00001
|
NM_030962.4(SBF2):c.4808A>G (p.His1603Arg)
|
rs757498268
|
0.00001
|
NM_030962.4(SBF2):c.4818C>T (p.Ser1606=)
|
rs760444889
|
0.00001
|
NM_030962.4(SBF2):c.4920C>T (p.Thr1640=)
|
rs1222175198
|
0.00001
|
NM_030962.4(SBF2):c.4932+5G>A
|
rs764275849
|
0.00001
|
NM_030962.4(SBF2):c.5005G>A (p.Val1669Met)
|
rs757185849
|
0.00001
|
NM_030962.4(SBF2):c.5035C>T (p.Arg1679Cys)
|
rs79401259
|
0.00001
|
NM_030962.4(SBF2):c.504A>T (p.Gly168=)
|
rs781537575
|
0.00001
|
NM_030962.4(SBF2):c.5055G>A (p.Ser1685=)
|
rs375798441
|
0.00001
|
NM_030962.4(SBF2):c.5064A>G (p.Pro1688=)
|
rs766646551
|
0.00001
|
NM_030962.4(SBF2):c.5073G>T (p.Val1691=)
|
rs373722394
|
0.00001
|
NM_030962.4(SBF2):c.5137G>C (p.Glu1713Gln)
|
rs1852290948
|
0.00001
|
NM_030962.4(SBF2):c.5150C>T (p.Ser1717Phe)
|
rs1428957767
|
0.00001
|
NM_030962.4(SBF2):c.5168A>G (p.Asn1723Ser)
|
rs752274961
|
0.00001
|
NM_030962.4(SBF2):c.5180G>A (p.Arg1727Gln)
|
rs765612411
|
0.00001
|
NM_030962.4(SBF2):c.5193G>A (p.Thr1731=)
|
rs764147377
|
0.00001
|
NM_030962.4(SBF2):c.5231+19C>T
|
rs1250788397
|
0.00001
|
NM_030962.4(SBF2):c.5245A>G (p.Thr1749Ala)
|
rs1288312315
|
0.00001
|
NM_030962.4(SBF2):c.5247A>G (p.Thr1749=)
|
rs1257156187
|
0.00001
|
NM_030962.4(SBF2):c.5286C>T (p.Pro1762=)
|
rs138850562
|
0.00001
|
NM_030962.4(SBF2):c.5288G>A (p.Arg1763His)
|
rs770839463
|
0.00001
|
NM_030962.4(SBF2):c.5319+18A>C
|
rs577375809
|
0.00001
|
NM_030962.4(SBF2):c.5323C>T (p.Arg1775Cys)
|
rs938347502
|
0.00001
|
NM_030962.4(SBF2):c.5324G>A (p.Arg1775His)
|
rs574665066
|
0.00001
|
NM_030962.4(SBF2):c.5330A>G (p.Tyr1777Cys)
|
rs185926762
|
0.00001
|
NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val)
|
rs746542104
|
0.00001
|
NM_030962.4(SBF2):c.5399C>T (p.Ala1800Val)
|
rs745534248
|
0.00001
|
NM_030962.4(SBF2):c.5452-14A>G
|
rs745519807
|
0.00001
|
NM_030962.4(SBF2):c.5452-5T>C
|
rs773935983
|
0.00001
|
NM_030962.4(SBF2):c.546G>T (p.Gln182His)
|
rs886047534
|
0.00001
|
NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr)
|
rs146064484
|
0.00001
|
NM_030962.4(SBF2):c.5485G>A (p.Ala1829Thr)
|
rs750660963
|
0.00001
|
NM_030962.4(SBF2):c.55+9G>T
|
rs1449265617
|
0.00001
|
NM_030962.4(SBF2):c.586G>A (p.Gly196Ser)
|
rs150725040
|
0.00001
|
NM_030962.4(SBF2):c.620-9T>C
|
rs199676895
|
0.00001
|
NM_030962.4(SBF2):c.64G>A (p.Glu22Lys)
|
rs749815764
|
0.00001
|
NM_030962.4(SBF2):c.670G>A (p.Val224Ile)
|
rs1209039793
|
0.00001
|
NM_030962.4(SBF2):c.703A>G (p.Ser235Gly)
|
rs1441387053
|
0.00001
|
NM_030962.4(SBF2):c.72G>T (p.Leu24=)
|
rs1352614927
|
0.00001
|
NM_030962.4(SBF2):c.756T>C (p.Tyr252=)
|
rs764753779
|
0.00001
|
NM_030962.4(SBF2):c.761A>G (p.Tyr254Cys)
|
rs1947932613
|
0.00001
|
NM_030962.4(SBF2):c.763A>G (p.Ile255Val)
|
rs1259744769
|
0.00001
|
NM_030962.4(SBF2):c.769A>G (p.Ile257Val)
|
rs756866661
|
0.00001
|
NM_030962.4(SBF2):c.811C>A (p.Pro271Thr)
|
rs1044734721
|
0.00001
|
NM_030962.4(SBF2):c.812C>G (p.Pro271Arg)
|
rs1223197381
|
0.00001
|
NM_030962.4(SBF2):c.822T>C (p.Ile274=)
|
rs776897720
|
0.00001
|
NM_030962.4(SBF2):c.830A>C (p.His277Pro)
|
rs1284766357
|
0.00001
|
NM_030962.4(SBF2):c.854A>G (p.His285Arg)
|
rs146971151
|
0.00001
|
NM_030962.4(SBF2):c.861+7A>G
|
rs546454057
|
0.00001
|
NM_030962.4(SBF2):c.869T>G (p.Val290Gly)
|
rs771827174
|
0.00001
|
NM_030962.4(SBF2):c.87G>C (p.Gln29His)
|
rs751336040
|
0.00001
|
NM_030962.4(SBF2):c.8G>A (p.Arg3Gln)
|
rs1964355306
|
0.00001
|
NM_030962.4(SBF2):c.90A>G (p.Arg30=)
|
rs551470384
|
0.00001
|
NM_030962.4(SBF2):c.913T>C (p.Cys305Arg)
|
rs758820956
|
0.00001
|
NM_030962.4(SBF2):c.925T>G (p.Ser309Ala)
|
rs1300253311
|
0.00001
|
NM_030962.4(SBF2):c.936A>G (p.Pro312=)
|
rs765770300
|
0.00001
|
NM_181882.3(PRX):c.1006G>T (p.Asp336Tyr)
|
rs1299537537
|
0.00001
|
NM_181882.3(PRX):c.1011G>C (p.Leu337=)
|
rs1156439031
|
0.00001
|
NM_181882.3(PRX):c.1019C>T (p.Pro340Leu)
|
rs780373582
|
0.00001
|
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)
|
rs104894715
|
0.00001
|
NM_181882.3(PRX):c.1113A>G (p.Glu371=)
|
rs137930942
|
0.00001
|
NM_181882.3(PRX):c.1119T>C (p.Ala373=)
|
rs779189309
|
0.00001
|
NM_181882.3(PRX):c.120G>A (p.Glu40=)
|
rs748206641
|
0.00001
|
NM_181882.3(PRX):c.1215C>T (p.Pro405=)
|
rs377184301
|
0.00001
|
NM_181882.3(PRX):c.1245G>C (p.Leu415=)
|
rs2079447078
|
0.00001
|
NM_181882.3(PRX):c.1251G>T (p.Leu417=)
|
rs751470543
|
0.00001
|
NM_181882.3(PRX):c.1255A>T (p.Thr419Ser)
|
rs766358380
|
0.00001
|
NM_181882.3(PRX):c.1269C>G (p.Pro423=)
|
rs201031197
|
0.00001
|
NM_181882.3(PRX):c.1286T>C (p.Val429Ala)
|
rs776312092
|
0.00001
|
NM_181882.3(PRX):c.1300G>C (p.Val434Leu)
|
rs746471273
|
0.00001
|
NM_181882.3(PRX):c.1308G>A (p.Val436=)
|
rs771496284
|
0.00001
|
NM_181882.3(PRX):c.1315G>A (p.Gly439Arg)
|
rs756439826
|
0.00001
|
NM_181882.3(PRX):c.134G>A (p.Arg45Gln)
|
rs751441856
|
0.00001
|
NM_181882.3(PRX):c.138G>C (p.Glu46Asp)
|
rs1477884504
|
0.00001
|
NM_181882.3(PRX):c.1390C>T (p.Arg464Ter)
|
rs574861276
|
0.00001
|
NM_181882.3(PRX):c.13A>G (p.Ser5Gly)
|
rs767350599
|
0.00001
|
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp)
|
rs760423138
|
0.00001
|
NM_181882.3(PRX):c.148G>T (p.Asp50Tyr)
|
rs528136982
|
0.00001
|
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu)
|
rs1167411868
|
0.00001
|
NM_181882.3(PRX):c.1529T>C (p.Met510Thr)
|
rs780375180
|
0.00001
|
NM_181882.3(PRX):c.1538C>T (p.Pro513Leu)
|
rs148742209
|
0.00001
|
NM_181882.3(PRX):c.15C>G (p.Ser5Arg)
|
rs1408677034
|
0.00001
|
NM_181882.3(PRX):c.1616C>T (p.Pro539Leu)
|
rs762424034
|
0.00001
|
NM_181882.3(PRX):c.1647G>C (p.Pro549=)
|
rs202113722
|
0.00001
|
NM_181882.3(PRX):c.1656A>G (p.Ser552=)
|
rs1568707640
|
0.00001
|
NM_181882.3(PRX):c.1749T>G (p.Pro583=)
|
rs1234792110
|
0.00001
|
NM_181882.3(PRX):c.1777A>G (p.Met593Val)
|
rs1389523539
|
0.00001
|
NM_181882.3(PRX):c.1790A>G (p.Glu597Gly)
|
rs746698242
|
0.00001
|
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn)
|
rs757931043
|
0.00001
|
NM_181882.3(PRX):c.17G>A (p.Arg6Gln)
|
rs774078598
|
0.00001
|
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr)
|
rs2079438994
|
0.00001
|
NM_181882.3(PRX):c.184+10C>G
|
rs1283752580
|
0.00001
|
NM_181882.3(PRX):c.1842C>A (p.Pro614=)
|
rs559655526
|
0.00001
|
NM_181882.3(PRX):c.185-4G>A
|
rs1322328826
|
0.00001
|
NM_181882.3(PRX):c.185-8G>A
|
rs768814221
|
0.00001
|
NM_181882.3(PRX):c.1864C>T (p.Gln622Ter)
|
rs1210729449
|
0.00001
|
NM_181882.3(PRX):c.1919A>G (p.Lys640Arg)
|
rs781739632
|
0.00001
|
NM_181882.3(PRX):c.1925C>T (p.Pro642Leu)
|
rs751935470
|
0.00001
|
NM_181882.3(PRX):c.1971G>A (p.Val657=)
|
rs766837777
|
0.00001
|
NM_181882.3(PRX):c.1993A>G (p.Met665Val)
|
rs747528144
|
0.00001
|
NM_181882.3(PRX):c.2018T>C (p.Met673Thr)
|
rs760571664
|
0.00001
|
NM_181882.3(PRX):c.2040C>T (p.Leu680=)
|
rs140717633
|
0.00001
|
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser)
|
rs1387072587
|
0.00001
|
NM_181882.3(PRX):c.2188C>T (p.Pro730Ser)
|
rs2079433440
|
0.00001
|
NM_181882.3(PRX):c.2209G>A (p.Val737Met)
|
rs1237761863
|
0.00001
|
NM_181882.3(PRX):c.2221C>T (p.His741Tyr)
|
rs1599653314
|
0.00001
|
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln)
|
rs755014286
|
0.00001
|
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu)
|
rs570569581
|
0.00001
|
NM_181882.3(PRX):c.2267C>T (p.Pro756Leu)
|
rs749585237
|
0.00001
|
NM_181882.3(PRX):c.2268G>A (p.Pro756=)
|
rs570227186
|
0.00001
|
NM_181882.3(PRX):c.2274G>T (p.Met758Ile)
|
rs770109023
|
0.00001
|
NM_181882.3(PRX):c.2280G>T (p.Val760=)
|
rs781372987
|
0.00001
|
NM_181882.3(PRX):c.2283G>A (p.Pro761=)
|
rs1340076007
|
0.00001
|
NM_181882.3(PRX):c.2307G>A (p.Pro769=)
|
rs148655811
|
0.00001
|
NM_181882.3(PRX):c.2335G>A (p.Ala779Thr)
|
rs369505684
|
0.00001
|
NM_181882.3(PRX):c.2339C>T (p.Pro780Leu)
|
rs371562775
|
0.00001
|
NM_181882.3(PRX):c.2345T>G (p.Val782Gly)
|
rs747153697
|
0.00001
|
NM_181882.3(PRX):c.2353A>G (p.Lys785Glu)
|
rs780270731
|
0.00001
|
NM_181882.3(PRX):c.2421C>T (p.Pro807=)
|
rs752259641
|
0.00001
|
NM_181882.3(PRX):c.2432G>T (p.Arg811Met)
|
rs2079430119
|
0.00001
|
NM_181882.3(PRX):c.2505C>T (p.Pro835=)
|
rs1385769822
|
0.00001
|
NM_181882.3(PRX):c.2523G>A (p.Val841=)
|
rs780710089
|
0.00001
|
NM_181882.3(PRX):c.2558C>T (p.Thr853Ile)
|
rs2079428604
|
0.00001
|
NM_181882.3(PRX):c.256T>C (p.Cys86Arg)
|
rs765676916
|
0.00001
|
NM_181882.3(PRX):c.2582T>C (p.Leu861Pro)
|
rs1192034174
|
0.00001
|
NM_181882.3(PRX):c.2591C>G (p.Ala864Gly)
|
rs777582529
|
0.00001
|
NM_181882.3(PRX):c.25G>A (p.Glu9Lys)
|
rs1020492565
|
0.00001
|
NM_181882.3(PRX):c.2619C>T (p.Ala873=)
|
rs761066015
|
0.00001
|
NM_181882.3(PRX):c.2642G>A (p.Arg881Gln)
|
rs570264094
|
0.00001
|
NM_181882.3(PRX):c.2657A>T (p.Glu886Val)
|
rs1212378012
|
0.00001
|
NM_181882.3(PRX):c.2697C>A (p.Pro899=)
|
rs778762350
|
0.00001
|
NM_181882.3(PRX):c.27+5G>C
|
rs371520525
|
0.00001
|
NM_181882.3(PRX):c.2804A>C (p.Lys935Thr)
|
rs1179595016
|
0.00001
|
NM_181882.3(PRX):c.2841G>A (p.Glu947=)
|
rs771912595
|
0.00001
|
NM_181882.3(PRX):c.2851G>T (p.Ala951Ser)
|
rs748622767
|
0.00001
|
NM_181882.3(PRX):c.2860G>T (p.Ala954Ser)
|
rs747471167
|
0.00001
|
NM_181882.3(PRX):c.2967C>T (p.Leu989=)
|
rs1057522657
|
0.00001
|
NM_181882.3(PRX):c.2T>C (p.Met1Thr)
|
rs1352237419
|
0.00001
|
NM_181882.3(PRX):c.3014_3015insT (p.Lys1006fs)
|
rs1301129751
|
0.00001
|
NM_181882.3(PRX):c.3050A>G (p.Lys1017Arg)
|
rs538922683
|
0.00001
|
NM_181882.3(PRX):c.3052G>A (p.Gly1018Arg)
|
rs772827175
|
0.00001
|
NM_181882.3(PRX):c.307G>A (p.Gly103Arg)
|
rs754510516
|
0.00001
|
NM_181882.3(PRX):c.3094G>A (p.Asp1032Asn)
|
rs772431799
|
0.00001
|
NM_181882.3(PRX):c.3099_3100del (p.Glu1034fs)
|
rs1474525486
|
0.00001
|
NM_181882.3(PRX):c.3109G>A (p.Glu1037Lys)
|
rs571311308
|
0.00001
|
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)
|
rs104894708
|
0.00001
|
NM_181882.3(PRX):c.3252G>A (p.Gly1084=)
|
rs1364023547
|
0.00001
|
NM_181882.3(PRX):c.3261T>C (p.Ala1087=)
|
rs1412558420
|
0.00001
|
NM_181882.3(PRX):c.3270C>T (p.Thr1090=)
|
rs764866078
|
0.00001
|
NM_181882.3(PRX):c.3281T>G (p.Leu1094Arg)
|
rs1270740440
|
0.00001
|
NM_181882.3(PRX):c.3292G>A (p.Glu1098Lys)
|
rs565167885
|
0.00001
|
NM_181882.3(PRX):c.3309G>T (p.Thr1103=)
|
rs557336965
|
0.00001
|
NM_181882.3(PRX):c.3315C>T (p.Gly1105=)
|
rs762102597
|
0.00001
|
NM_181882.3(PRX):c.333C>G (p.Thr111=)
|
rs764439512
|
0.00001
|
NM_181882.3(PRX):c.3351C>T (p.Ala1117=)
|
rs535934188
|
0.00001
|
NM_181882.3(PRX):c.335T>C (p.Val112Ala)
|
rs760944190
|
0.00001
|
NM_181882.3(PRX):c.3366G>A (p.Gln1122=)
|
rs952933935
|
0.00001
|
NM_181882.3(PRX):c.3375C>T (p.Gly1125=)
|
rs755560307
|
0.00001
|
NM_181882.3(PRX):c.3376C>A (p.Leu1126Met)
|
rs1483705612
|
0.00001
|
NM_181882.3(PRX):c.3392C>A (p.Ala1131Asp)
|
rs750801377
|
0.00001
|
NM_181882.3(PRX):c.3405C>T (p.Val1135=)
|
rs1359310179
|
0.00001
|
NM_181882.3(PRX):c.3416A>G (p.His1139Arg)
|
rs1268527552
|
0.00001
|
NM_181882.3(PRX):c.3419A>T (p.Asp1140Val)
|
rs923473427
|
0.00001
|
NM_181882.3(PRX):c.345C>T (p.Tyr115=)
|
rs774364484
|
0.00001
|
NM_181882.3(PRX):c.346G>A (p.Glu116Lys)
|
rs770713710
|
0.00001
|
NM_181882.3(PRX):c.3483G>A (p.Gly1161=)
|
rs1344913169
|
0.00001
|
NM_181882.3(PRX):c.3505C>T (p.Gln1169Ter)
|
rs767591489
|
0.00001
|
NM_181882.3(PRX):c.354G>A (p.Lys118=)
|
rs1044654884
|
0.00001
|
NM_181882.3(PRX):c.3562C>A (p.Pro1188Thr)
|
rs878855284
|
0.00001
|
NM_181882.3(PRX):c.3583C>T (p.Pro1195Ser)
|
rs1555800544
|
0.00001
|
NM_181882.3(PRX):c.358C>A (p.Pro120Thr)
|
rs762808329
|
0.00001
|
NM_181882.3(PRX):c.360G>T (p.Pro120=)
|
rs142003722
|
0.00001
|
NM_181882.3(PRX):c.3622G>A (p.Glu1208Lys)
|
rs767504243
|
0.00001
|
NM_181882.3(PRX):c.3624G>C (p.Glu1208Asp)
|
rs1030878933
|
0.00001
|
NM_181882.3(PRX):c.3630C>G (p.Val1210=)
|
rs1305658668
|
0.00001
|
NM_181882.3(PRX):c.3640C>T (p.Pro1214Ser)
|
rs1303392170
|
0.00001
|
NM_181882.3(PRX):c.3674T>C (p.Val1225Ala)
|
rs1329396084
|
0.00001
|
NM_181882.3(PRX):c.3703G>A (p.Glu1235Lys)
|
rs1385904344
|
0.00001
|
NM_181882.3(PRX):c.3717C>T (p.Gly1239=)
|
rs764955913
|
0.00001
|
NM_181882.3(PRX):c.3722G>C (p.Gly1241Ala)
|
rs139120811
|
0.00001
|
NM_181882.3(PRX):c.3726G>T (p.Gly1242=)
|
rs775170011
|
0.00001
|
NM_181882.3(PRX):c.3756C>T (p.Ala1252=)
|
rs567256423
|
0.00001
|
NM_181882.3(PRX):c.3805G>A (p.Glu1269Lys)
|
rs916285011
|
0.00001
|
NM_181882.3(PRX):c.381+6C>T
|
rs778983888
|
0.00001
|
NM_181882.3(PRX):c.3835G>T (p.Val1279Leu)
|
rs747247972
|
0.00001
|
NM_181882.3(PRX):c.3841C>T (p.Leu1281Phe)
|
rs2079410935
|
0.00001
|
NM_181882.3(PRX):c.3843C>A (p.Leu1281=)
|
rs369372933
|
0.00001
|
NM_181882.3(PRX):c.3849A>G (p.Pro1283=)
|
rs757247849
|
0.00001
|
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg)
|
rs749251511
|
0.00001
|
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp)
|
rs751126995
|
0.00001
|
NM_181882.3(PRX):c.392G>A (p.Ser131Asn)
|
rs781394276
|
0.00001
|
NM_181882.3(PRX):c.3963G>A (p.Glu1321=)
|
rs781159482
|
0.00001
|
NM_181882.3(PRX):c.3966G>A (p.Glu1322=)
|
rs1364542566
|
0.00001
|
NM_181882.3(PRX):c.4047C>T (p.Ser1349=)
|
rs759882475
|
0.00001
|
NM_181882.3(PRX):c.4090G>A (p.Gly1364Arg)
|
rs1481896317
|
0.00001
|
NM_181882.3(PRX):c.4103C>T (p.Ser1368Leu)
|
rs768636520
|
0.00001
|
NM_181882.3(PRX):c.4109G>A (p.Arg1370His)
|
rs756687548
|
0.00001
|
NM_181882.3(PRX):c.4115G>T (p.Gly1372Val)
|
rs751906783
|
0.00001
|
NM_181882.3(PRX):c.4165G>A (p.Ala1389Thr)
|
rs752060706
|
0.00001
|
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys)
|
rs1486029743
|
0.00001
|
NM_181882.3(PRX):c.4232G>T (p.Arg1411Leu)
|
rs1005254872
|
0.00001
|
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs)
|
rs778270475
|
0.00001
|
NM_181882.3(PRX):c.485A>C (p.Lys162Thr)
|
rs879254072
|
0.00001
|
NM_181882.3(PRX):c.486G>A (p.Lys162=)
|
rs2079457857
|
0.00001
|
NM_181882.3(PRX):c.494G>A (p.Arg165His)
|
rs780278195
|
0.00001
|
NM_181882.3(PRX):c.503G>A (p.Arg168Gln)
|
rs763833871
|
0.00001
|
NM_181882.3(PRX):c.557G>A (p.Arg186Gln)
|
rs569213133
|
0.00001
|
NM_181882.3(PRX):c.575G>A (p.Arg192Gln)
|
rs944160754
|
0.00001
|
NM_181882.3(PRX):c.598G>A (p.Glu200Lys)
|
rs767207935
|
0.00001
|
NM_181882.3(PRX):c.59T>C (p.Ile20Thr)
|
rs767446213
|
0.00001
|
NM_181882.3(PRX):c.627C>T (p.Ala209=)
|
rs761085934
|
0.00001
|
NM_181882.3(PRX):c.628G>A (p.Ala210Thr)
|
rs775981300
|
0.00001
|
NM_181882.3(PRX):c.62T>C (p.Val21Ala)
|
rs1167676481
|
0.00001
|
NM_181882.3(PRX):c.648A>G (p.Lys216=)
|
rs1199712298
|
0.00001
|
NM_181882.3(PRX):c.669G>T (p.Val223=)
|
rs1433628210
|
0.00001
|
NM_181882.3(PRX):c.673G>T (p.Ala225Ser)
|
rs754734195
|
0.00001
|
NM_181882.3(PRX):c.707T>C (p.Leu236Pro)
|
rs876661240
|
0.00001
|
NM_181882.3(PRX):c.732G>A (p.Ala244=)
|
rs769735682
|
0.00001
|
NM_181882.3(PRX):c.75G>A (p.Ala25=)
|
rs766160977
|
0.00001
|
NM_181882.3(PRX):c.815C>T (p.Thr272Ile)
|
rs747384252
|
0.00001
|
NM_181882.3(PRX):c.81C>T (p.Thr27=)
|
rs988404691
|
0.00001
|
NM_181882.3(PRX):c.820G>C (p.Gly274Arg)
|
rs750022799
|
0.00001
|
NM_181882.3(PRX):c.825C>T (p.Leu275=)
|
rs753268672
|
0.00001
|
NM_181882.3(PRX):c.82G>A (p.Gly28Arg)
|
rs2079513379
|
0.00001
|
NM_181882.3(PRX):c.830C>T (p.Ala277Val)
|
rs1393962979
|
0.00001
|
NM_181882.3(PRX):c.834G>A (p.Pro278=)
|
rs759984063
|
0.00001
|
NM_181882.3(PRX):c.901C>T (p.Pro301Ser)
|
rs1453242996
|
0.00001
|
NM_181882.3(PRX):c.936A>G (p.Leu312=)
|
rs752086513
|
0.00001
|
NM_181882.3(PRX):c.944G>A (p.Arg315Gln)
|
rs577197549
|
0.00001
|
NM_181882.3(PRX):c.959C>T (p.Ser320Leu)
|
rs760647416
|
0.00001
|
NM_181882.3(PRX):c.994A>G (p.Thr332Ala)
|
rs143710873
|
0.00001
|
NC_000005.10:g.(?_149040594)_(149040687_?)del
|
|
|
NC_000005.10:g.(?_149047842)_(149048009_?)del
|
|
|
NC_000005.10:g.(?_149062971)_(149063174_?)del
|
|
|
NC_000005.9:g.(?_148360713)_(148443737_?)del
|
|
|
NC_000005.9:g.(?_148384274)_(148442585_?)dup
|
|
|
NC_000005.9:g.(?_148420147)_(148420260_?)del
|
|
|
NC_000005.9:g.(?_148426859)_(148427552_?)del
|
|
|
NC_000006.11:g.(?_107019871)_(110266416_?)del
|
|
|
NC_000006.11:g.(?_109690054)_(110266416_?)dup
|
|
|
NC_000006.11:g.(?_109765394)_(110064995_?)dup
|
|
|
NC_000006.11:g.(?_110012639)_(110064995_?)del
|
|
|
NC_000006.11:g.(?_110012639)_(110098283_?)dup
|
|
|
NC_000006.11:g.(?_110048292)_(110053276_?)del
|
|
|
NC_000006.11:g.(?_110048292)_(110098283_?)del
|
|
|
NC_000006.11:g.(?_110081433)_(110088118_?)dup
|
|
|
NC_000006.11:g.(?_110106153)_(110113887_?)del
|
|
|
NC_000006.11:g.(?_110106153)_(110146468_?)dup
|
|
|
NC_000006.11:g.(?_110117948)_(110118074_?)dup
|
|
|
NC_000006.12:g.(?_109691416)_(109691521_?)del
|
|
|
NC_000006.12:g.(?_109741424)_(109743792_?)del
|
|
|
NC_000006.12:g.(?_109825078)_(109825275_?)del
|
|
|
NC_000008.10:g.(?_133141489)_(134296574_?)dup
|
|
|
NC_000008.10:g.(?_134107268)_(134296554_?)del
|
|
|
NC_000008.10:g.(?_134251111)_(134296564_?)dup
|
|
|
NC_000008.10:g.(?_134251121)_(134296554_?)dup
|
|
|
NC_000008.10:g.(?_134260948)_(134262796_?)del
|
|
|
NC_000008.10:g.(?_134266772)_(134276905_?)del
|
|
|
NC_000008.10:g.(?_134274280)_(134296564_?)dup
|
|
|
NC_000008.10:g.(?_134292465)_(134296564_?)del
|
|
|
NC_000008.10:g.(?_74888497)_(75274233_?)dup
|
|
|
NC_000008.10:g.(?_74888517)_(75276602_?)dup
|
|
|
NC_000008.10:g.(?_75262697)_(75276602_?)del
|
|
|
NC_000008.10:g.(?_75272366)_(75272551_?)del
|
|
|
NC_000008.11:g.(?_133236171)_(133298304_?)dup
|
|
|
NC_000008.11:g.(?_73976132)_(74367120_?)dup
|
|
|
NC_000008.11:g.(?_74349383)_(74368110_?)dup
|
|
|
NC_000008.11:g.74350373_74350374del
|
rs577136201
|
|
NC_000011.10:g.(?_10028442)_(10193997_?)del
|
|
|
NC_000011.10:g.(?_10193902)_(10193987_?)del
|
|
|
NC_000011.10:g.(?_10294005)_(10294079_?)dup
|
|
|
NC_000011.10:g.(?_9780408)_(10042991_?)del
|
|
|
NC_000011.10:g.(?_9807990)_(9858406_?)del
|
|
|
NC_000011.9:g.(?_10215443)_(10215540_?)del
|
|
|
NC_000011.9:g.(?_95568444)_(95568625_?)dup
|
|
|
NC_000011.9:g.(?_95568454)_(95598860_?)del
|
|
|
NC_000011.9:g.(?_95568454)_(95657118_?)dup
|
|
|
NC_000011.9:g.(?_95574771)_(95598850_?)dup
|
|
|
NC_000011.9:g.(?_9801955)_(10064538_?)dup
|
|
|
NC_000011.9:g.(?_9809161)_(9812250_?)del
|
|
|
NC_000011.9:g.(?_9809171)_(9812240_?)del
|
|
|
NC_000011.9:g.(?_9864152)_(9871785_?)del
|
|
|
NC_000011.9:g.(?_9989878)_(9990102_?)del
|
|
|
NC_000012.11:g.(?_32729292)_(32793467_?)del
|
|
|
NC_000012.11:g.(?_32729292)_(32793467_?)dup
|
|
|
NC_000012.11:g.(?_32786463)_(32793467_?)dup
|
|
|
NC_000012.11:g.(?_32786463)_(32832419_?)dup
|
|
|
NC_000012.12:g.(?_32576256)_(32640543_?)del
|
|
|
NC_000012.12:g.(?_32576352)_(32619876_?)del
|
|
|
NC_000012.12:g.(?_32598477)_(32598606_?)del
|
|
|
NC_000012.12:g.(?_32633539)_(32640543_?)dup
|
|
|
NC_000019.10:g.(?_40403686)_(40403882_?)del
|
|
|
NC_000019.10:g.(?_40403696)_(40403872_?)del
|
|
|
NC_000019.9:g.(?_40899863)_(40913849_?)dup
|
|
|
NC_000019.9:g.(?_40899873)_(40904743_?)dup
|
|
|
NM_001370298.3(FGD4):c.1004A>G (p.Glu335Gly)
|
rs1304257221
|
|
NM_001370298.3(FGD4):c.1005G>A (p.Glu335=)
|
|
|
NM_001370298.3(FGD4):c.1008G>C (p.Met336Ile)
|
rs1592295526
|
|
NM_001370298.3(FGD4):c.1011+13A>G
|
rs2136436231
|
|
NM_001370298.3(FGD4):c.1012-11C>G
|
|
|
NM_001370298.3(FGD4):c.1012-12T>C
|
|
|
NM_001370298.3(FGD4):c.1012-19A>C
|
rs779138200
|
|
NM_001370298.3(FGD4):c.1012-19A>G
|
|
|
NM_001370298.3(FGD4):c.1014G>A (p.Glu338=)
|
|
|
NM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter)
|
rs201676628
|
|
NM_001370298.3(FGD4):c.1051C>A (p.Leu351Ile)
|
|
|
NM_001370298.3(FGD4):c.1051del (p.Leu351fs)
|
rs1948089932
|
|
NM_001370298.3(FGD4):c.1067G>C (p.Arg356Thr)
|
rs1211624997
|
|
NM_001370298.3(FGD4):c.1071T>G (p.Ala357=)
|
rs781493748
|
|
NM_001370298.3(FGD4):c.1077C>T (p.Val359=)
|
|
|
NM_001370298.3(FGD4):c.1079A>C (p.Asn360Thr)
|
|
|
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)
|
rs118203972
|
|
NM_001370298.3(FGD4):c.1082G>A (p.Arg361Gln)
|
rs903824731
|
|
NM_001370298.3(FGD4):c.1101+6A>T
|
rs1948094442
|
|
NM_001370298.3(FGD4):c.1101+7T>A
|
|
|
NM_001370298.3(FGD4):c.1102-20T>C
|
|
|
NM_001370298.3(FGD4):c.1102-4T>G
|
|
|
NM_001370298.3(FGD4):c.1102-6A>G
|
|
|
NM_001370298.3(FGD4):c.1113C>T (p.Cys371=)
|
rs1023107131
|
|
NM_001370298.3(FGD4):c.1129G>A (p.Ala377Thr)
|
|
|
NM_001370298.3(FGD4):c.1135C>T (p.Arg379Ter)
|
rs1948408994
|
|
NM_001370298.3(FGD4):c.1141T>C (p.Ser381Pro)
|
|
|
NM_001370298.3(FGD4):c.1151C>T (p.Ala384Val)
|
rs1295394925
|
|
NM_001370298.3(FGD4):c.1156A>G (p.Met386Val)
|
rs1948410675
|
|
NM_001370298.3(FGD4):c.1158G>A (p.Met386Ile)
|
|
|
NM_001370298.3(FGD4):c.1200C>T (p.Phe400=)
|
|
|
NM_001370298.3(FGD4):c.1202A>T (p.His401Leu)
|
rs2136650004
|
|
NM_001370298.3(FGD4):c.1220C>A (p.Pro407Gln)
|
|
|
NM_001370298.3(FGD4):c.1248-11A>G
|
|
|
NM_001370298.3(FGD4):c.1248-19T>G
|
|
|
NM_001370298.3(FGD4):c.1248-3C>T
|
|
|
NM_001370298.3(FGD4):c.1248-4A>G
|
|
|
NM_001370298.3(FGD4):c.1248-7G>A
|
rs2136658308
|
|
NM_001370298.3(FGD4):c.1248-9T>A
|
rs2136658280
|
|
NM_001370298.3(FGD4):c.1268G>T (p.Gly423Val)
|
rs2136658541
|
|
NM_001370298.3(FGD4):c.1284A>G (p.Lys428=)
|
rs1224103433
|
|
NM_001370298.3(FGD4):c.1286T>C (p.Leu429Ser)
|
rs2136658634
|
|
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)
|
rs63749871
|
|
NM_001370298.3(FGD4):c.1327T>C (p.Phe443Leu)
|
rs2136659122
|
|
NM_001370298.3(FGD4):c.1333A>T (p.Asn445Tyr)
|
|
|
NM_001370298.3(FGD4):c.1334A>C (p.Asn445Thr)
|
rs1451834045
|
|
NM_001370298.3(FGD4):c.1344A>G (p.Glu448=)
|
rs1160194150
|
|
NM_001370298.3(FGD4):c.1344A>T (p.Glu448Asp)
|
|
|
NM_001370298.3(FGD4):c.1368T>A (p.Arg456=)
|
|
|
NM_001370298.3(FGD4):c.1370T>C (p.Ile457Thr)
|
|
|
NM_001370298.3(FGD4):c.1372C>T (p.Pro458Ser)
|
rs2136659608
|
|
NM_001370298.3(FGD4):c.1387G>A (p.Val463Met)
|
rs2136659690
|
|
NM_001370298.3(FGD4):c.1390G>A (p.Val464Ile)
|
rs2082190695
|
|
NM_001370298.3(FGD4):c.1390G>T (p.Val464Phe)
|
|
|
NM_001370298.3(FGD4):c.1391T>C (p.Val464Ala)
|
rs2136659782
|
|
NM_001370298.3(FGD4):c.1404+20C>T
|
|
|
NM_001370298.3(FGD4):c.1404+2T>A
|
rs1948478259
|
|
NM_001370298.3(FGD4):c.1404+4A>T
|
rs767855809
|
|
NM_001370298.3(FGD4):c.1404+5dup
|
rs2136659935
|
|
NM_001370298.3(FGD4):c.1404+6A>T
|
rs2136659955
|
|
NM_001370298.3(FGD4):c.1405-7A>T
|
|
|
NM_001370298.3(FGD4):c.1413A>G (p.Lys471=)
|
rs2136723717
|
|
NM_001370298.3(FGD4):c.1444A>G (p.Met482Val)
|
rs1404084092
|
|
NM_001370298.3(FGD4):c.1454C>A (p.Pro485His)
|
rs928398769
|
|
NM_001370298.3(FGD4):c.1454del (p.Pro485fs)
|
rs1592387932
|
|
NM_001370298.3(FGD4):c.1463G>C (p.Arg488Pro)
|
rs138762438
|
|
NM_001370298.3(FGD4):c.1470C>A (p.Pro490=)
|
rs16920084
|
|
NM_001370298.3(FGD4):c.1472G>T (p.Arg491Leu)
|
|
|
NM_001370298.3(FGD4):c.1491G>T (p.Lys497Asn)
|
rs1948897635
|
|
NM_001370298.3(FGD4):c.1493A>G (p.Asp498Gly)
|
|
|
NM_001370298.3(FGD4):c.1497_1500del (p.Asp498_Tyr499insTer)
|
|
|
NM_001370298.3(FGD4):c.1514C>T (p.Pro505Leu)
|
rs1948899992
|
|
NM_001370298.3(FGD4):c.1535A>T (p.Asp512Val)
|
rs754600353
|
|
NM_001370298.3(FGD4):c.1543+17del
|
rs548627916
|
|
NM_001370298.3(FGD4):c.1543+17dup
|
rs548627916
|
|
NM_001370298.3(FGD4):c.1543+18del
|
|
|
NM_001370298.3(FGD4):c.1543+8C>T
|
rs75622900
|
|
NM_001370298.3(FGD4):c.1543+9T>C
|
|
|
NM_001370298.3(FGD4):c.1543A>C (p.Lys515Gln)
|
rs2136725845
|
|
NM_001370298.3(FGD4):c.1544-17del
|
|
|
NM_001370298.3(FGD4):c.1544-19T>G
|
|
|
NM_001370298.3(FGD4):c.1545A>G (p.Lys515=)
|
|
|
NM_001370298.3(FGD4):c.1546T>G (p.Ser516Ala)
|
rs1396328756
|
|
NM_001370298.3(FGD4):c.1548A>G (p.Ser516=)
|
|
|
NM_001370298.3(FGD4):c.1562C>T (p.Ser521Phe)
|
rs1949089197
|
|
NM_001370298.3(FGD4):c.1602+1G>C
|
rs2136763097
|
|
NM_001370298.3(FGD4):c.1603-9A>T
|
rs1555217855
|
|
NM_001370298.3(FGD4):c.1605G>A (p.Glu535=)
|
rs746263549
|
|
NM_001370298.3(FGD4):c.1605G>T (p.Glu535Asp)
|
rs746263549
|
|
NM_001370298.3(FGD4):c.1608C>T (p.Asn536=)
|
|
|
NM_001370298.3(FGD4):c.1609C>T (p.Leu537=)
|
rs750265200
|
|
NM_001370298.3(FGD4):c.1619T>G (p.Leu540Arg)
|
|
|
NM_001370298.3(FGD4):c.1632T>C (p.Tyr544=)
|
|
|
NM_001370298.3(FGD4):c.1644AGA[3] (p.Glu551del)
|
rs1264651352
|
|
NM_001370298.3(FGD4):c.1650A>C (p.Glu550Asp)
|
|
|
NM_001370298.3(FGD4):c.1667C>T (p.Pro556Leu)
|
rs773514635
|
|
NM_001370298.3(FGD4):c.1669T>A (p.Ser557Thr)
|
rs759385629
|
|
NM_001370298.3(FGD4):c.1730A>G (p.Gln577Arg)
|
rs2136769216
|
|
NM_001370298.3(FGD4):c.1735C>T (p.Arg579Cys)
|
rs1949117700
|
|
NM_001370298.3(FGD4):c.1738T>C (p.Tyr580His)
|
rs1555217941
|
|
NM_001370298.3(FGD4):c.1749+11T>C
|
rs1195832498
|
|
NM_001370298.3(FGD4):c.1749+15G>A
|
|
|
NM_001370298.3(FGD4):c.1749+18G>C
|
rs2136769839
|
|
NM_001370298.3(FGD4):c.1750-11G>A
|
|
|
NM_001370298.3(FGD4):c.1755C>T (p.Asn585=)
|
rs2136878570
|
|
NM_001370298.3(FGD4):c.1788C>T (p.Ser596=)
|
|
|
NM_001370298.3(FGD4):c.1798T>C (p.Ser600Pro)
|
rs2136879170
|
|
NM_001370298.3(FGD4):c.1814G>A (p.Arg605Gln)
|
|
|
NM_001370298.3(FGD4):c.1817C>G (p.Thr606Ser)
|
rs2136879434
|
|
NM_001370298.3(FGD4):c.1840A>C (p.Lys614Gln)
|
rs1949689887
|
|
NM_001370298.3(FGD4):c.1866A>G (p.Glu622=)
|
|
|
NM_001370298.3(FGD4):c.1869T>G (p.Tyr623Ter)
|
|
|
NM_001370298.3(FGD4):c.1893G>A (p.Gly631=)
|
|
|
NM_001370298.3(FGD4):c.1922+10C>T
|
|
|
NM_001370298.3(FGD4):c.1922+4A>G
|
rs760192025
|
|
NM_001370298.3(FGD4):c.1923-6_1923-2del
|
rs1950025678
|
|
NM_001370298.3(FGD4):c.1923-7A>T
|
|
|
NM_001370298.3(FGD4):c.1924T>G (p.Ser642Ala)
|
|
|
NM_001370298.3(FGD4):c.1929G>T (p.Ala643=)
|
rs11052110
|
|
NM_001370298.3(FGD4):c.1930C>T (p.Gln644Ter)
|
rs2136932206
|
|
NM_001370298.3(FGD4):c.1953+7C>G
|
rs1408854259
|
|
NM_001370298.3(FGD4):c.2024A>G (p.Asn675Ser)
|
rs1592452330
|
|
NM_001370298.3(FGD4):c.2030T>G (p.Ile677Ser)
|
rs760696455
|
|
NM_001370298.3(FGD4):c.2035T>A (p.Ser679Thr)
|
rs150746174
|
|
NM_001370298.3(FGD4):c.2046+15A>G
|
rs2136939057
|
|
NM_001370298.3(FGD4):c.2055G>A (p.Glu685=)
|
rs2136945519
|
|
NM_001370298.3(FGD4):c.2070C>A (p.Ala690=)
|
rs188104446
|
|
NM_001370298.3(FGD4):c.2076A>G (p.Arg692=)
|
|
|
NM_001370298.3(FGD4):c.2103G>A (p.Met701Ile)
|
rs1267580970
|
|
NM_001370298.3(FGD4):c.2117A>G (p.Lys706Arg)
|
rs1950119263
|
|
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.2122C>G (p.Pro708Ala)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.2122C>T (p.Pro708Ser)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.2123C>T (p.Pro708Leu)
|
rs145071617
|
|
NM_001370298.3(FGD4):c.2130T>C (p.Asn710=)
|
rs1462411791
|
|
NM_001370298.3(FGD4):c.2141G>A (p.Arg714Gln)
|
rs372890690
|
|
NM_001370298.3(FGD4):c.2162C>T (p.Ala721Val)
|
|
|
NM_001370298.3(FGD4):c.2164T>C (p.Cys722Arg)
|
rs1432249262
|
|
NM_001370298.3(FGD4):c.2169A>C (p.Gly723=)
|
rs200761894
|
|
NM_001370298.3(FGD4):c.2172+11T>C
|
|
|
NM_001370298.3(FGD4):c.2172+18A>G
|
|
|
NM_001370298.3(FGD4):c.2172+7del
|
|
|
NM_001370298.3(FGD4):c.2173-19T>C
|
|
|
NM_001370298.3(FGD4):c.2228A>G (p.Lys743Arg)
|
rs1950617596
|
|
NM_001370298.3(FGD4):c.2230T>C (p.Leu744=)
|
|
|
NM_001370298.3(FGD4):c.2243G>T (p.Cys748Phe)
|
rs1950618963
|
|
NM_001370298.3(FGD4):c.2244_2313+238delinsGGAGG
|
rs1950619177
|
|
NM_001370298.3(FGD4):c.2249A>C (p.Asp750Ala)
|
rs1950619446
|
|
NM_001370298.3(FGD4):c.2252_2253del (p.Cys751fs)
|
rs1401878479
|
|
NM_001370298.3(FGD4):c.2259A>C (p.Gln753His)
|
|
|
NM_001370298.3(FGD4):c.2262C>T (p.Ile754=)
|
rs1269801867
|
|
NM_001370298.3(FGD4):c.2276_2277del (p.Thr759fs)
|
rs1555223595
|
|
NM_001370298.3(FGD4):c.2278G>C (p.Asp760His)
|
rs2137024260
|
|
NM_001370298.3(FGD4):c.2285A>G (p.Glu762Gly)
|
rs139663812
|
|
NM_001370298.3(FGD4):c.2288A>T (p.Glu763Val)
|
rs1484964809
|
|
NM_001370298.3(FGD4):c.2292G>A (p.Lys764=)
|
|
|
NM_001370298.3(FGD4):c.2292_2294del (p.Lys765del)
|
|
|
NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs)
|
rs751035912
|
|
NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs)
|
rs751035912
|
|
NM_001370298.3(FGD4):c.2313+5G>C
|
rs777362500
|
|
NM_001370298.3(FGD4):c.2314-18T>G
|
|
|
NM_001370298.3(FGD4):c.2325A>G (p.Ala775=)
|
|
|
NM_001370298.3(FGD4):c.2330T>C (p.Val777Ala)
|
|
|
NM_001370298.3(FGD4):c.2340C>A (p.Asn780Lys)
|
rs1555224749
|
|
NM_001370298.3(FGD4):c.2345T>C (p.Val782Ala)
|
rs1296247975
|
|
NM_001370298.3(FGD4):c.2346G>T (p.Val782=)
|
rs1950988125
|
|
NM_001370298.3(FGD4):c.2361T>G (p.Leu787=)
|
rs1358873743
|
|
NM_001370298.3(FGD4):c.2371G>C (p.Glu791Gln)
|
rs1276989118
|
|
NM_001370298.3(FGD4):c.2404G>A (p.Val802Met)
|
rs768786804
|
|
NM_001370298.3(FGD4):c.2421C>T (p.Asp807=)
|
|
|
NM_001370298.3(FGD4):c.2423C>T (p.Pro808Leu)
|
|
|
NM_001370298.3(FGD4):c.2433G>A (p.Leu811=)
|
rs2137076847
|
|
NM_001370298.3(FGD4):c.2444dup (p.Ala816fs)
|
rs2137076976
|
|
NM_001370298.3(FGD4):c.2450C>T (p.Pro817Leu)
|
|
|
NM_001370298.3(FGD4):c.2451C>T (p.Pro817=)
|
rs1314359233
|
|
NM_001370298.3(FGD4):c.2452del (p.Gln818fs)
|
rs1060501904
|
|
NM_001370298.3(FGD4):c.2452dup (p.Gln818fs)
|
|
|
NM_001370298.3(FGD4):c.2454+19T>A
|
rs1950996056
|
|
NM_001370298.3(FGD4):c.2455-10T>C
|
rs1592514932
|
|
NM_001370298.3(FGD4):c.2455-7T>C
|
rs2137091888
|
|
NM_001370298.3(FGD4):c.2457C>T (p.Asp819=)
|
|
|
NM_001370298.3(FGD4):c.2472C>T (p.Ala824=)
|
rs370230063
|
|
NM_001370298.3(FGD4):c.2475C>T (p.Thr825=)
|
rs1356498279
|
|
NM_001370298.3(FGD4):c.2490C>T (p.Gly830=)
|
rs1951094637
|
|
NM_001370298.3(FGD4):c.2492A>G (p.Tyr831Cys)
|
rs760349455
|
|
NM_001370298.3(FGD4):c.2518G>T (p.Ala840Ser)
|
rs145630882
|
|
NM_001370298.3(FGD4):c.2538C>G (p.Phe846Leu)
|
rs1336663423
|
|
NM_001370298.3(FGD4):c.2554A>G (p.Lys852Glu)
|
rs1951098766
|
|
NM_001370298.3(FGD4):c.2560G>T (p.Val854Leu)
|
rs61753359
|
|
NM_001370298.3(FGD4):c.2562G>T (p.Val854=)
|
rs969579366
|
|
NM_001370298.3(FGD4):c.2563C>T (p.His855Tyr)
|
rs908838682
|
|
NM_001370298.3(FGD4):c.2583_2586del (p.Ser861fs)
|
rs1951100155
|
|
NM_001370298.3(FGD4):c.2590C>G (p.Leu864Val)
|
rs1592515601
|
|
NM_001370298.3(FGD4):c.2591T>A (p.Leu864Gln)
|
rs1592515619
|
|
NM_001370298.3(FGD4):c.2596C>T (p.Gln866Ter)
|
|
|
NM_001370298.3(FGD4):c.2626G>A (p.Val876Ile)
|
rs1411372303
|
|
NM_001370298.3(FGD4):c.2644G>A (p.Gly882Ser)
|
rs775920519
|
|
NM_001370298.3(FGD4):c.2663del (p.Pro888fs)
|
rs745923777
|
|
NM_001370298.3(FGD4):c.2665G>C (p.Ala889Pro)
|
|
|
NM_001370298.3(FGD4):c.2666C>A (p.Ala889Asp)
|
rs2137094596
|
|
NM_001370298.3(FGD4):c.2666C>T (p.Ala889Val)
|
rs2137094596
|
|
NM_001370298.3(FGD4):c.2679T>C (p.Asp893=)
|
|
|
NM_001370298.3(FGD4):c.2680C>T (p.His894Tyr)
|
rs1161666501
|
|
NM_001370298.3(FGD4):c.2700A>G (p.Lys900=)
|
|
|
NM_001370298.3(FGD4):c.2704G>T (p.Glu902Ter)
|
rs752612218
|
|
NM_001370298.3(FGD4):c.412A>G (p.Met138Val)
|
rs1946127146
|
|
NM_001370298.3(FGD4):c.417G>A (p.Glu139=)
|
rs1946127489
|
|
NM_001370298.3(FGD4):c.435T>A (p.Ser145=)
|
|
|
NM_001370298.3(FGD4):c.457A>G (p.Lys153Glu)
|
rs2136376441
|
|
NM_001370298.3(FGD4):c.468G>A (p.Lys156=)
|
rs1427707678
|
|
NM_001370298.3(FGD4):c.488G>T (p.Arg163Leu)
|
rs540449675
|
|
NM_001370298.3(FGD4):c.493G>C (p.Glu165Gln)
|
|
|
NM_001370298.3(FGD4):c.503+3A>C
|
rs2136376879
|
|
NM_001370298.3(FGD4):c.504-20C>G
|
rs1592293275
|
|
NM_001370298.3(FGD4):c.504-2A>C
|
|
|
NM_001370298.3(FGD4):c.504-8T>C
|
|
|
NM_001370298.3(FGD4):c.504-9A>G
|
|
|
NM_001370298.3(FGD4):c.510A>G (p.Leu170=)
|
|
|
NM_001370298.3(FGD4):c.536A>G (p.Glu179Gly)
|
|
|
NM_001370298.3(FGD4):c.600A>G (p.Gln200=)
|
|
|
NM_001370298.3(FGD4):c.607CTC[1] (p.Leu204del)
|
rs763887179
|
|
NM_001370298.3(FGD4):c.609C>A (p.Leu203=)
|
|
|
NM_001370298.3(FGD4):c.610C>G (p.Leu204Val)
|
rs906371311
|
|
NM_001370298.3(FGD4):c.614C>T (p.Ser205Phe)
|
|
|
NM_001370298.3(FGD4):c.616del (p.Gln206fs)
|
rs2136432373
|
|
NM_001370298.3(FGD4):c.621C>T (p.His207=)
|
|
|
NM_001370298.3(FGD4):c.643G>A (p.Asp215Asn)
|
|
|
NM_001370298.3(FGD4):c.671C>G (p.Thr224Ser)
|
rs1282163986
|
|
NM_001370298.3(FGD4):c.674G>T (p.Cys225Phe)
|
rs201660852
|
|
NM_001370298.3(FGD4):c.675T>C (p.Cys225=)
|
|
|
NM_001370298.3(FGD4):c.683A>G (p.Asn228Ser)
|
rs1465985805
|
|
NM_001370298.3(FGD4):c.685G>A (p.Gly229Ser)
|
|
|
NM_001370298.3(FGD4):c.696A>C (p.Ala232=)
|
rs2136433041
|
|
NM_001370298.3(FGD4):c.716G>A (p.Cys239Tyr)
|
rs1946667139
|
|
NM_001370298.3(FGD4):c.719_733del (p.Glu240_Ala244del)
|
rs1314855895
|
|
NM_001370298.3(FGD4):c.720G>A (p.Glu240=)
|
rs1232883602
|
|
NM_001370298.3(FGD4):c.727A>G (p.Lys243Glu)
|
rs1320412245
|
|
NM_001370298.3(FGD4):c.733G>A (p.Ala245Thr)
|
rs1946669350
|
|
NM_001370298.3(FGD4):c.755C>G (p.Ser252Cys)
|
rs1946671502
|
|
NM_001370298.3(FGD4):c.764C>T (p.Ala255Val)
|
rs1946672101
|
|
NM_001370298.3(FGD4):c.785C>G (p.Thr262Arg)
|
rs200732890
|
|
NM_001370298.3(FGD4):c.798T>C (p.Asn266=)
|
|
|
NM_001370298.3(FGD4):c.808G>T (p.Asp270Tyr)
|
|
|
NM_001370298.3(FGD4):c.823G>C (p.Ala275Pro)
|
|
|
NM_001370298.3(FGD4):c.824C>A (p.Ala275Asp)
|
|
|
NM_001370298.3(FGD4):c.828T>A (p.Pro276=)
|
rs1295234161
|
|
NM_001370298.3(FGD4):c.831A>G (p.Ala277=)
|
|
|
NM_001370298.3(FGD4):c.838A>G (p.Thr280Ala)
|
rs1463004734
|
|
NM_001370298.3(FGD4):c.840A>C (p.Thr280=)
|
|
|
NM_001370298.3(FGD4):c.845_846delinsTT (p.Asp282Val)
|
|
|
NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu)
|
rs904582
|
|
NM_001370298.3(FGD4):c.846C>T (p.Asp282=)
|
rs904582
|
|
NM_001370298.3(FGD4):c.854A>T (p.Asp285Val)
|
rs1565869688
|
|
NM_001370298.3(FGD4):c.862G>A (p.Ala288Thr)
|
|
|
NM_001370298.3(FGD4):c.867T>C (p.Ser289=)
|
|
|
NM_001370298.3(FGD4):c.888A>G (p.Pro296=)
|
|
|
NM_001370298.3(FGD4):c.900_902del (p.Val301del)
|
|
|
NM_001370298.3(FGD4):c.907C>T (p.Pro303Ser)
|
|
|
NM_001370298.3(FGD4):c.950A>G (p.Glu317Gly)
|
rs1452437045
|
|
NM_001370298.3(FGD4):c.955G>A (p.Glu319Lys)
|
rs1592295272
|
|
NM_001370298.3(FGD4):c.958A>G (p.Asn320Asp)
|
rs1946688403
|
|
NM_001370298.3(FGD4):c.994C>T (p.Gln332Ter)
|
|
|
NM_001370298.3(FGD4):c.996G>A (p.Gln332=)
|
|
|
NM_006096.4(NDRG1):c.100-12G>A
|
|
|
NM_006096.4(NDRG1):c.100-20T>C
|
|
|
NM_006096.4(NDRG1):c.100-23_100-17del
|
|
|
NM_006096.4(NDRG1):c.100-5C>T
|
rs1856826865
|
|
NM_006096.4(NDRG1):c.100-6C>T
|
rs1586451965
|
|
NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile)
|
rs568119325
|
|
NM_006096.4(NDRG1):c.1002C>T (p.Val334=)
|
rs1855233290
|
|
NM_006096.4(NDRG1):c.1008T>C (p.Ser336=)
|
|
|
NM_006096.4(NDRG1):c.1009C>T (p.Leu337=)
|
|
|
NM_006096.4(NDRG1):c.1011G>A (p.Leu337=)
|
rs1287183324
|
|
NM_006096.4(NDRG1):c.1020C>T (p.Thr340=)
|
rs2130656201
|
|
NM_006096.4(NDRG1):c.1021C>T (p.Arg341Cys)
|
|
|
NM_006096.4(NDRG1):c.1023C>A (p.Arg341=)
|
|
|
NM_006096.4(NDRG1):c.1023CAGCCGCTCCCACACCAGCGAGGGCACCCG[3] (p.Gly369_Ala370insThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGly)
|
|
|
NM_006096.4(NDRG1):c.1023_1052dup (p.Gly369_Ala370insThrArgSerArgSerHisThrSerGluGly)
|
|
|
NM_006096.4(NDRG1):c.1029C>T (p.Arg343=)
|
|
|
NM_006096.4(NDRG1):c.1032_1091del (p.340TRSRSHTSEG[1])
|
rs1554747479
|
|
NM_006096.4(NDRG1):c.1035C>T (p.His345=)
|
rs2130656081
|
|
NM_006096.4(NDRG1):c.1038C>A (p.Thr346=)
|
rs1198581271
|
|
NM_006096.4(NDRG1):c.1041C>T (p.Ser347=)
|
rs1467447359
|
|
NM_006096.4(NDRG1):c.1042G>C (p.Glu348Gln)
|
rs775650624
|
|
NM_006096.4(NDRG1):c.1043A>G (p.Glu348Gly)
|
rs2130656034
|
|
NM_006096.4(NDRG1):c.1047_1106del (p.340TRSRSHTSEG[1])
|
rs1855219414
|
|
NM_006096.4(NDRG1):c.1050C>T (p.Thr350=)
|
|
|
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2])
|
rs751274009
|
|
NM_006096.4(NDRG1):c.1058G>A (p.Arg353His)
|
|
|
NM_006096.4(NDRG1):c.1062_1091del (p.340_349TRSRSHTSEG[2])
|
rs763499117
|
|
NM_006096.4(NDRG1):c.1062_1091dup (p.340_349TRSRSHTSEG[4])
|
rs763499117
|
|
NM_006096.4(NDRG1):c.1066A>G (p.Thr356Ala)
|
rs111835070
|
|
NM_006096.4(NDRG1):c.1071C>T (p.Ser357=)
|
|
|
NM_006096.4(NDRG1):c.1072G>A (p.Glu358Lys)
|
rs2130655766
|
|
NM_006096.4(NDRG1):c.1076G>A (p.Gly359Asp)
|
rs144379016
|
|
NM_006096.4(NDRG1):c.1077_1106del (p.340TRSRSHTSEG[2])
|
rs1554747463
|
|
NM_006096.4(NDRG1):c.1077_1106dup (p.340TRSRSHTSEG[4])
|
rs1554747463
|
|
NM_006096.4(NDRG1):c.1080C>T (p.Thr360=)
|
|
|
NM_006096.4(NDRG1):c.1083C>A (p.Arg361=)
|
rs541812355
|
|
NM_006096.4(NDRG1):c.1086C>T (p.Ser362=)
|
rs1189614460
|
|
NM_006096.4(NDRG1):c.1089C>T (p.Arg363=)
|
rs1855222014
|
|
NM_006096.4(NDRG1):c.1092G>A (p.Ser364=)
|
rs578199680
|
|
NM_006096.4(NDRG1):c.1092G>C (p.Ser364=)
|
rs578199680
|
|
NM_006096.4(NDRG1):c.1095C>T (p.His365=)
|
rs1278753145
|
|
NM_006096.4(NDRG1):c.10G>A (p.Glu4Lys)
|
rs1857979450
|
|
NM_006096.4(NDRG1):c.1102G>A (p.Glu368Lys)
|
|
|
NM_006096.4(NDRG1):c.1105G>C (p.Gly369Arg)
|
|
|
NM_006096.4(NDRG1):c.1107G>A (p.Gly369=)
|
|
|
NM_006096.4(NDRG1):c.1107G>T (p.Gly369=)
|
|
|
NM_006096.4(NDRG1):c.1109C>G (p.Ala370Gly)
|
rs367925853
|
|
NM_006096.4(NDRG1):c.1109C>T (p.Ala370Val)
|
rs367925853
|
|
NM_006096.4(NDRG1):c.1112_1114delinsTTT (p.His371Leu)
|
rs1554747447
|
|
NM_006096.4(NDRG1):c.1116G>T (p.Leu372=)
|
|
|
NM_006096.4(NDRG1):c.1132T>C (p.Ser378Pro)
|
|
|
NM_006096.4(NDRG1):c.1144G>A (p.Gly382Arg)
|
|
|
NM_006096.4(NDRG1):c.1150A>C (p.Ser384Arg)
|
|
|
NM_006096.4(NDRG1):c.1151G>A (p.Ser384Asn)
|
|
|
NM_006096.4(NDRG1):c.1155C>G (p.Ala385=)
|
rs774605205
|
|
NM_006096.4(NDRG1):c.1161C>A (p.Pro387=)
|
|
|
NM_006096.4(NDRG1):c.1161C>G (p.Pro387=)
|
|
|
NM_006096.4(NDRG1):c.1164G>A (p.Lys388=)
|
|
|
NM_006096.4(NDRG1):c.1167C>G (p.Ser389=)
|
|
|
NM_006096.4(NDRG1):c.1171G>A (p.Glu391Lys)
|
rs1413072034
|
|
NM_006096.4(NDRG1):c.1173G>A (p.Glu391=)
|
|
|
NM_006096.4(NDRG1):c.1176C>G (p.Val392=)
|
rs2130655008
|
|
NM_006096.4(NDRG1):c.1178_1180del (p.Ser393del)
|
rs745669327
|
|
NM_006096.4(NDRG1):c.126C>A (p.Gly42=)
|
|
|
NM_006096.4(NDRG1):c.126C>T (p.Gly42=)
|
|
|
NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp)
|
rs1286565668
|
|
NM_006096.4(NDRG1):c.138C>T (p.Val46=)
|
|
|
NM_006096.4(NDRG1):c.139A>G (p.Thr47Ala)
|
rs2130743246
|
|
NM_006096.4(NDRG1):c.142C>T (p.Leu48=)
|
|
|
NM_006096.4(NDRG1):c.144G>A (p.Leu48=)
|
|
|
NM_006096.4(NDRG1):c.144G>C (p.Leu48=)
|
rs1856822376
|
|
NM_006096.4(NDRG1):c.158A>C (p.Lys53Thr)
|
|
|
NM_006096.4(NDRG1):c.158A>G (p.Lys53Arg)
|
rs140634799
|
|
NM_006096.4(NDRG1):c.162A>G (p.Gly54=)
|
rs751655132
|
|
NM_006096.4(NDRG1):c.168G>T (p.Arg56=)
|
rs2130743140
|
|
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr)
|
rs1856819839
|
|
NM_006096.4(NDRG1):c.183C>T (p.Thr61=)
|
|
|
NM_006096.4(NDRG1):c.18G>A (p.Gln6=)
|
rs951266228
|
|
NM_006096.4(NDRG1):c.18G>C (p.Gln6His)
|
|
|
NM_006096.4(NDRG1):c.196G>T (p.Gly66Cys)
|
rs780329667
|
|
NM_006096.4(NDRG1):c.205+10G>A
|
rs2130742953
|
|
NM_006096.4(NDRG1):c.205+1G>C
|
|
|
NM_006096.4(NDRG1):c.205+1G>T
|
rs1060503092
|
|
NM_006096.4(NDRG1):c.205+2T>A
|
rs1586451553
|
|
NM_006096.4(NDRG1):c.205+8C>A
|
|
|
NM_006096.4(NDRG1):c.205+8_205+11del
|
|
|
NM_006096.4(NDRG1):c.206-11C>A
|
|
|
NM_006096.4(NDRG1):c.206-14C>T
|
|
|
NM_006096.4(NDRG1):c.206-16C>T
|
|
|
NM_006096.4(NDRG1):c.206-8T>C
|
rs766314244
|
|
NM_006096.4(NDRG1):c.206-9G>C
|
rs994259747
|
|
NM_006096.4(NDRG1):c.212C>A (p.Thr71Asn)
|
rs1554591949
|
|
NM_006096.4(NDRG1):c.217T>A (p.Tyr73Asn)
|
rs368584363
|
|
NM_006096.4(NDRG1):c.218A>G (p.Tyr73Cys)
|
|
|
NM_006096.4(NDRG1):c.225C>G (p.Pro75=)
|
|
|
NM_006096.4(NDRG1):c.228C>T (p.Leu76=)
|
rs1586446509
|
|
NM_006096.4(NDRG1):c.231C>T (p.Phe77=)
|
rs2130736303
|
|
NM_006096.4(NDRG1):c.250_252del (p.Glu84del)
|
rs1278099164
|
|
NM_006096.4(NDRG1):c.251A>G (p.Glu84Gly)
|
rs1372913345
|
|
NM_006096.4(NDRG1):c.258C>T (p.Thr86=)
|
rs2130736192
|
|
NM_006096.4(NDRG1):c.260A>C (p.Gln87Pro)
|
rs1350908820
|
|
NM_006096.4(NDRG1):c.267T>C (p.Phe89=)
|
|
|
NM_006096.4(NDRG1):c.274T>C (p.Cys92Arg)
|
rs2130736126
|
|
NM_006096.4(NDRG1):c.276C>T (p.Cys92=)
|
rs1272995021
|
|
NM_006096.4(NDRG1):c.297G>A (p.Gln99=)
|
rs2130736044
|
|
NM_006096.4(NDRG1):c.306C>A (p.Gly102=)
|
rs2233322
|
|
NM_006096.4(NDRG1):c.307G>T (p.Ala103Ser)
|
rs374160497
|
|
NM_006096.4(NDRG1):c.30C>A (p.Leu10=)
|
rs758205425
|
|
NM_006096.4(NDRG1):c.312C>G (p.Ala104=)
|
|
|
NM_006096.4(NDRG1):c.314C>G (p.Ser105Cys)
|
rs570291930
|
|
NM_006096.4(NDRG1):c.314C>T (p.Ser105Phe)
|
rs570291930
|
|
NM_006096.4(NDRG1):c.319C>T (p.Pro107Ser)
|
rs1856684767
|
|
NM_006096.4(NDRG1):c.321C>G (p.Pro107=)
|
rs1403681249
|
|
NM_006096.4(NDRG1):c.326+12C>T
|
|
|
NM_006096.4(NDRG1):c.326+13T>A
|
|
|
NM_006096.4(NDRG1):c.326+14T>C
|
|
|
NM_006096.4(NDRG1):c.326+1G>A
|
rs1586446057
|
|
NM_006096.4(NDRG1):c.326+20A>G
|
|
|
NM_006096.4(NDRG1):c.326+4AG[3]
|
rs2130735865
|
|
NM_006096.4(NDRG1):c.326+5G>C
|
|
|
NM_006096.4(NDRG1):c.326+8G>T
|
|
|
NM_006096.4(NDRG1):c.326+9C>G
|
|
|
NM_006096.4(NDRG1):c.327-13G>C
|
|
|
NM_006096.4(NDRG1):c.327-19T>G
|
|
|
NM_006096.4(NDRG1):c.327-20C>T
|
|
|
NM_006096.4(NDRG1):c.327-4C>G
|
|
|
NM_006096.4(NDRG1):c.327-5C>T
|
|
|
NM_006096.4(NDRG1):c.328T>C (p.Tyr110His)
|
rs1586440110
|
|
NM_006096.4(NDRG1):c.330C>G (p.Tyr110Ter)
|
|
|
NM_006096.4(NDRG1):c.332T>G (p.Met111Arg)
|
|
|
NM_006096.4(NDRG1):c.339C>G (p.Pro113=)
|
|
|
NM_006096.4(NDRG1):c.339C>T (p.Pro113=)
|
rs1724822357
|
|
NM_006096.4(NDRG1):c.340T>A (p.Ser114Thr)
|
|
|
NM_006096.4(NDRG1):c.342C>G (p.Ser114=)
|
|
|
NM_006096.4(NDRG1):c.343A>G (p.Met115Val)
|
|
|
NM_006096.4(NDRG1):c.347A>T (p.Asp116Val)
|
rs2130727469
|
|
NM_006096.4(NDRG1):c.350A>T (p.Gln117Leu)
|
rs2130727461
|
|
NM_006096.4(NDRG1):c.351G>A (p.Gln117=)
|
rs2130727456
|
|
NM_006096.4(NDRG1):c.355G>C (p.Ala119Pro)
|
rs1856537884
|
|
NM_006096.4(NDRG1):c.368del (p.Pro123fs)
|
rs2130727371
|
|
NM_006096.4(NDRG1):c.378T>C (p.Leu126=)
|
|
|
NM_006096.4(NDRG1):c.380A>G (p.Gln127Arg)
|
|
|
NM_006096.4(NDRG1):c.381A>G (p.Gln127=)
|
|
|
NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu)
|
rs574238421
|
|
NM_006096.4(NDRG1):c.389+17A>G
|
|
|
NM_006096.4(NDRG1):c.389+18G>C
|
|
|
NM_006096.4(NDRG1):c.389G>A (p.Gly130Glu)
|
rs759258704
|
|
NM_006096.4(NDRG1):c.390-16G>T
|
|
|
NM_006096.4(NDRG1):c.390-19T>C
|
|
|
NM_006096.4(NDRG1):c.390-20A>G
|
|
|
NM_006096.4(NDRG1):c.390-5T>C
|
|
|
NM_006096.4(NDRG1):c.40A>T (p.Lys14Ter)
|
|
|
NM_006096.4(NDRG1):c.410T>C (p.Met137Thr)
|
rs1856491809
|
|
NM_006096.4(NDRG1):c.416C>G (p.Thr139Arg)
|
rs863224745
|
|
NM_006096.4(NDRG1):c.417A>G (p.Thr139=)
|
|
|
NM_006096.4(NDRG1):c.426C>T (p.Gly142=)
|
rs370604799
|
|
NM_006096.4(NDRG1):c.429C>T (p.Ala143=)
|
|
|
NM_006096.4(NDRG1):c.432C>T (p.Tyr144=)
|
rs535684670
|
|
NM_006096.4(NDRG1):c.448G>A (p.Ala150Thr)
|
rs150796527
|
|
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)
|
rs150796527
|
|
NM_006096.4(NDRG1):c.450+10T>G
|
|
|
NM_006096.4(NDRG1):c.450+12G>C
|
|
|
NM_006096.4(NDRG1):c.450+14C>T
|
|
|
NM_006096.4(NDRG1):c.450+2_450+3del
|
rs1856488064
|
|
NM_006096.4(NDRG1):c.450+8C>T
|
|
|
NM_006096.4(NDRG1):c.450+9T>C
|
rs1177638934
|
|
NM_006096.4(NDRG1):c.451-14G>A
|
|
|
NM_006096.4(NDRG1):c.451-14G>T
|
|
|
NM_006096.4(NDRG1):c.451-20C>G
|
|
|
NM_006096.4(NDRG1):c.451-7A>T
|
|
|
NM_006096.4(NDRG1):c.453A>G (p.Leu151=)
|
rs776744445
|
|
NM_006096.4(NDRG1):c.455A>C (p.Asn152Thr)
|
|
|
NM_006096.4(NDRG1):c.456C>G (p.Asn152Lys)
|
rs760921567
|
|
NM_006096.4(NDRG1):c.468G>A (p.Met156Ile)
|
rs1856402568
|
|
NM_006096.4(NDRG1):c.469G>A (p.Val157Met)
|
|
|
NM_006096.4(NDRG1):c.47T>C (p.Leu16Ser)
|
rs1857976213
|
|
NM_006096.4(NDRG1):c.483C>A (p.Val161=)
|
|
|
NM_006096.4(NDRG1):c.483C>G (p.Val161=)
|
rs778902905
|
|
NM_006096.4(NDRG1):c.486T>C (p.Leu162=)
|
|
|
NM_006096.4(NDRG1):c.498C>A (p.Asn166Lys)
|
rs1856400076
|
|
NM_006096.4(NDRG1):c.4T>C (p.Ser2Pro)
|
rs781381539
|
|
NM_006096.4(NDRG1):c.501T>C (p.Pro167=)
|
rs2130719778
|
|
NM_006096.4(NDRG1):c.501T>G (p.Pro167=)
|
rs2130719778
|
|
NM_006096.4(NDRG1):c.506C>T (p.Ala169Val)
|
rs963190299
|
|
NM_006096.4(NDRG1):c.50T>A (p.Val17Glu)
|
rs1857975791
|
|
NM_006096.4(NDRG1):c.510_511insTGTGTGGA (p.Gly171fs)
|
|
|
NM_006096.4(NDRG1):c.518_521dup (p.Trp175fs)
|
rs2130719686
|
|
NM_006096.4(NDRG1):c.521A>T (p.Asp174Val)
|
|
|
NM_006096.4(NDRG1):c.523T>C (p.Trp175Arg)
|
rs1586434783
|
|
NM_006096.4(NDRG1):c.524G>A (p.Trp175Ter)
|
|
|
NM_006096.4(NDRG1):c.525G>A (p.Trp175Ter)
|
|
|
NM_006096.4(NDRG1):c.528C>G (p.Ala176=)
|
rs191237702
|
|
NM_006096.4(NDRG1):c.529G>A (p.Ala177Thr)
|
rs753878542
|
|
NM_006096.4(NDRG1):c.52G>A (p.Glu18Lys)
|
|
|
NM_006096.4(NDRG1):c.537+16G>A
|
|
|
NM_006096.4(NDRG1):c.537+1G>T
|
|
|
NM_006096.4(NDRG1):c.537+6dup
|
|
|
NM_006096.4(NDRG1):c.537+7T>G
|
|
|
NM_006096.4(NDRG1):c.537+8G>T
|
rs537844639
|
|
NM_006096.4(NDRG1):c.538-5T>A
|
rs1175681774
|
|
NM_006096.4(NDRG1):c.538-8C>T
|
|
|
NM_006096.4(NDRG1):c.538-9C>T
|
rs978424192
|
|
NM_006096.4(NDRG1):c.543A>G (p.Ser181=)
|
|
|
NM_006096.4(NDRG1):c.543A>T (p.Ser181=)
|
|
|
NM_006096.4(NDRG1):c.552C>G (p.Thr184=)
|
rs2130712948
|
|
NM_006096.4(NDRG1):c.555A>G (p.Gln185=)
|
|
|
NM_006096.4(NDRG1):c.561G>A (p.Leu187=)
|
rs2130712881
|
|
NM_006096.4(NDRG1):c.567C>T (p.Asp189=)
|
|
|
NM_006096.4(NDRG1):c.573G>A (p.Val191=)
|
|
|
NM_006096.4(NDRG1):c.579C>T (p.Ser193=)
|
rs1586430771
|
|
NM_006096.4(NDRG1):c.584T>A (p.Leu195His)
|
rs1856262402
|
|
NM_006096.4(NDRG1):c.594+10G>A
|
rs751843731
|
|
NM_006096.4(NDRG1):c.594+12G>C
|
|
|
NM_006096.4(NDRG1):c.595-10C>A
|
rs2130698932
|
|
NM_006096.4(NDRG1):c.595-13T>G
|
|
|
NM_006096.4(NDRG1):c.595-14C>G
|
|
|
NM_006096.4(NDRG1):c.595-15C>T
|
|
|
NM_006096.4(NDRG1):c.595-16A>G
|
|
|
NM_006096.4(NDRG1):c.595-17C>T
|
|
|
NM_006096.4(NDRG1):c.595-2A>T
|
rs758718584
|
|
NM_006096.4(NDRG1):c.595-6A>G
|
rs1554749794
|
|
NM_006096.4(NDRG1):c.601A>G (p.Met201Val)
|
|
|
NM_006096.4(NDRG1):c.604C>T (p.Gln202Ter)
|
rs1855957969
|
|
NM_006096.4(NDRG1):c.605A>C (p.Gln202Pro)
|
|
|
NM_006096.4(NDRG1):c.606G>A (p.Gln202=)
|
rs2130698846
|
|
NM_006096.4(NDRG1):c.609T>C (p.Ser203=)
|
|
|
NM_006096.4(NDRG1):c.627C>T (p.His209=)
|
rs1219241276
|
|
NM_006096.4(NDRG1):c.63+19G>C
|
|
|
NM_006096.4(NDRG1):c.63+7G>A
|
rs1857974705
|
|
NM_006096.4(NDRG1):c.63+8G>A
|
rs907196948
|
|
NM_006096.4(NDRG1):c.63+9A>C
|
rs2130794843
|
|
NM_006096.4(NDRG1):c.636C>T (p.Arg212=)
|
rs2130698716
|
|
NM_006096.4(NDRG1):c.63G>A (p.Glu21=)
|
|
|
NM_006096.4(NDRG1):c.64-10C>G
|
rs1857714894
|
|
NM_006096.4(NDRG1):c.64-12G>T
|
|
|
NM_006096.4(NDRG1):c.64-20T>C
|
|
|
NM_006096.4(NDRG1):c.64-20dup
|
rs756038946
|
|
NM_006096.4(NDRG1):c.641del (p.His214fs)
|
|
|
NM_006096.4(NDRG1):c.642C>T (p.His214=)
|
rs567996488
|
|
NM_006096.4(NDRG1):c.646G>T (p.Val216Leu)
|
|
|
NM_006096.4(NDRG1):c.648G>A (p.Val216=)
|
rs2130698643
|
|
NM_006096.4(NDRG1):c.650A>G (p.Asn217Ser)
|
|
|
NM_006096.4(NDRG1):c.651T>C (p.Asn217=)
|
rs1586421765
|
|
NM_006096.4(NDRG1):c.663C>G (p.Pro221=)
|
rs377225752
|
|
NM_006096.4(NDRG1):c.666C>A (p.Gly222=)
|
rs1432095364
|
|
NM_006096.4(NDRG1):c.66C>A (p.Thr22=)
|
rs750023131
|
|
NM_006096.4(NDRG1):c.66C>G (p.Thr22=)
|
rs750023131
|
|
NM_006096.4(NDRG1):c.676C>T (p.Leu226=)
|
rs1158911089
|
|
NM_006096.4(NDRG1):c.678G>A (p.Leu226=)
|
rs1398835960
|
|
NM_006096.4(NDRG1):c.67A>G (p.Ile23Val)
|
|
|
NM_006096.4(NDRG1):c.687T>C (p.Asn229=)
|
rs2130698426
|
|
NM_006096.4(NDRG1):c.690C>G (p.Ala230=)
|
|
|
NM_006096.4(NDRG1):c.698+10T>C
|
rs1330639454
|
|
NM_006096.4(NDRG1):c.698+11G>A
|
|
|
NM_006096.4(NDRG1):c.698+12T>C
|
|
|
NM_006096.4(NDRG1):c.698+14G>A
|
|
|
NM_006096.4(NDRG1):c.698+5T>G
|
|
|
NM_006096.4(NDRG1):c.698+6G>T
|
|
|
NM_006096.4(NDRG1):c.698+7G>T
|
rs2130698384
|
|
NM_006096.4(NDRG1):c.698+8G>A
|
|
|
NM_006096.4(NDRG1):c.699-11G>A
|
|
|
NM_006096.4(NDRG1):c.699-11G>T
|
|
|
NM_006096.4(NDRG1):c.699-13_699-12del
|
|
|
NM_006096.4(NDRG1):c.699-15A>G
|
|
|
NM_006096.4(NDRG1):c.699-16C>T
|
|
|
NM_006096.4(NDRG1):c.699-18T>A
|
rs2130692819
|
|
NM_006096.4(NDRG1):c.699-19A>C
|
|
|
NM_006096.4(NDRG1):c.699-19del
|
|
|
NM_006096.4(NDRG1):c.699-1G>A
|
|
|
NM_006096.4(NDRG1):c.699-2A>C
|
|
|
NM_006096.4(NDRG1):c.699-6C>A
|
|
|
NM_006096.4(NDRG1):c.699-8T>G
|
rs2130692792
|
|
NM_006096.4(NDRG1):c.699-8del
|
|
|
NM_006096.4(NDRG1):c.6T>C (p.Ser2=)
|
|
|
NM_006096.4(NDRG1):c.702G>A (p.Arg234=)
|
rs547082017
|
|
NM_006096.4(NDRG1):c.705C>A (p.Arg235=)
|
rs528436514
|
|
NM_006096.4(NDRG1):c.714G>A (p.Glu238=)
|
|
|
NM_006096.4(NDRG1):c.721C>T (p.Arg241Ter)
|
|
|
NM_006096.4(NDRG1):c.723A>T (p.Arg241=)
|
|
|
NM_006096.4(NDRG1):c.726A>G (p.Pro242=)
|
|
|
NM_006096.4(NDRG1):c.730C>T (p.Pro244Ser)
|
rs1187584644
|
|
NM_006096.4(NDRG1):c.738C>T (p.Thr246=)
|
rs2130692512
|
|
NM_006096.4(NDRG1):c.73G>T (p.Gly25Cys)
|
rs377527660
|
|
NM_006096.4(NDRG1):c.742A>G (p.Thr248Ala)
|
rs1276502410
|
|
NM_006096.4(NDRG1):c.750C>G (p.Thr250=)
|
rs1855837777
|
|
NM_006096.4(NDRG1):c.753G>A (p.Leu251=)
|
|
|
NM_006096.4(NDRG1):c.753G>C (p.Leu251=)
|
|
|
NM_006096.4(NDRG1):c.755+12T>A
|
|
|
NM_006096.4(NDRG1):c.755+12T>C
|
|
|
NM_006096.4(NDRG1):c.755+15T>C
|
|
|
NM_006096.4(NDRG1):c.755+16C>T
|
|
|
NM_006096.4(NDRG1):c.755+18C>T
|
|
|
NM_006096.4(NDRG1):c.755+1G>A
|
rs2130692394
|
|
NM_006096.4(NDRG1):c.755+7G>T
|
|
|
NM_006096.4(NDRG1):c.756-11C>T
|
|
|
NM_006096.4(NDRG1):c.756-13T>C
|
rs1855783791
|
|
NM_006096.4(NDRG1):c.756-15dup
|
|
|
NM_006096.4(NDRG1):c.756-16C>T
|
|
|
NM_006096.4(NDRG1):c.756-19G>T
|
|
|
NM_006096.4(NDRG1):c.758G>A (p.Cys253Tyr)
|
rs1855781697
|
|
NM_006096.4(NDRG1):c.759C>T (p.Cys253=)
|
rs2130689408
|
|
NM_006096.4(NDRG1):c.75C>T (p.Gly25=)
|
|
|
NM_006096.4(NDRG1):c.761C>T (p.Pro254Leu)
|
|
|
NM_006096.4(NDRG1):c.770T>C (p.Leu257Ser)
|
|
|
NM_006096.4(NDRG1):c.775G>A (p.Val259Ile)
|
|
|
NM_006096.4(NDRG1):c.776T>C (p.Val259Ala)
|
rs201759485
|
|
NM_006096.4(NDRG1):c.783C>T (p.Asp261=)
|
rs2130689282
|
|
NM_006096.4(NDRG1):c.792T>G (p.Pro264=)
|
rs377529002
|
|
NM_006096.4(NDRG1):c.794C>T (p.Ala265Val)
|
rs1855777702
|
|
NM_006096.4(NDRG1):c.79C>T (p.Leu27=)
|
rs2130785611
|
|
NM_006096.4(NDRG1):c.800A>G (p.Asp267Gly)
|
rs1287073036
|
|
NM_006096.4(NDRG1):c.802G>T (p.Ala268Ser)
|
rs752290896
|
|
NM_006096.4(NDRG1):c.804C>A (p.Ala268=)
|
rs754704497
|
|
NM_006096.4(NDRG1):c.807+12T>G
|
rs1435241843
|
|
NM_006096.4(NDRG1):c.807+13C>T
|
|
|
NM_006096.4(NDRG1):c.807+16A>G
|
|
|
NM_006096.4(NDRG1):c.807+18C>T
|
|
|
NM_006096.4(NDRG1):c.808-11C>T
|
|
|
NM_006096.4(NDRG1):c.808-13C>T
|
|
|
NM_006096.4(NDRG1):c.808-16C>T
|
|
|
NM_006096.4(NDRG1):c.808-2A>G
|
rs112360093
|
|
NM_006096.4(NDRG1):c.808-7T>C
|
|
|
NM_006096.4(NDRG1):c.808-9C>T
|
|
|
NM_006096.4(NDRG1):c.818A>G (p.Asn273Ser)
|
|
|
NM_006096.4(NDRG1):c.826T>C (p.Leu276=)
|
rs2130685069
|
|
NM_006096.4(NDRG1):c.835A>G (p.Thr279Ala)
|
|
|
NM_006096.4(NDRG1):c.837A>G (p.Thr279=)
|
rs2130685014
|
|
NM_006096.4(NDRG1):c.840G>A (p.Lys280=)
|
|
|
NM_006096.4(NDRG1):c.842C>A (p.Thr281Asn)
|
|
|
NM_006096.4(NDRG1):c.845C>G (p.Thr282Ser)
|
rs1449128690
|
|
NM_006096.4(NDRG1):c.849C>T (p.Leu283=)
|
rs1017838840
|
|
NM_006096.4(NDRG1):c.855+13C>T
|
|
|
NM_006096.4(NDRG1):c.855+14A>G
|
|
|
NM_006096.4(NDRG1):c.855+16T>A
|
|
|
NM_006096.4(NDRG1):c.855+16T>C
|
|
|
NM_006096.4(NDRG1):c.855+20G>T
|
|
|
NM_006096.4(NDRG1):c.855+2T>C
|
|
|
NM_006096.4(NDRG1):c.855+4C>G
|
rs1045595033
|
|
NM_006096.4(NDRG1):c.856-11C>G
|
|
|
NM_006096.4(NDRG1):c.856-13C>G
|
|
|
NM_006096.4(NDRG1):c.856-19G>A
|
|
|
NM_006096.4(NDRG1):c.856-20C>G
|
|
|
NM_006096.4(NDRG1):c.856-20C>T
|
|
|
NM_006096.4(NDRG1):c.856-5C>T
|
rs767437478
|
|
NM_006096.4(NDRG1):c.856-7C>A
|
rs2130676501
|
|
NM_006096.4(NDRG1):c.856-7C>G
|
|
|
NM_006096.4(NDRG1):c.856-8T>A
|
rs2130676510
|
|
NM_006096.4(NDRG1):c.856-9C>G
|
rs772996128
|
|
NM_006096.4(NDRG1):c.856-9C>T
|
rs772996128
|
|
NM_006096.4(NDRG1):c.863_872del (p.Asp288fs)
|
|
|
NM_006096.4(NDRG1):c.866_875del (p.Cys289fs)
|
rs2130676399
|
|
NM_006096.4(NDRG1):c.871G>A (p.Gly291Ser)
|
|
|
NM_006096.4(NDRG1):c.873C>G (p.Gly291=)
|
rs769421428
|
|
NM_006096.4(NDRG1):c.879G>T (p.Pro293=)
|
rs2233340
|
|
NM_006096.4(NDRG1):c.87G>A (p.Glu29=)
|
|
|
NM_006096.4(NDRG1):c.891+10A>G
|
rs1855548442
|
|
NM_006096.4(NDRG1):c.891+13T>G
|
|
|
NM_006096.4(NDRG1):c.891+2T>C
|
rs1586407193
|
|
NM_006096.4(NDRG1):c.892-11G>A
|
rs1855418193
|
|
NM_006096.4(NDRG1):c.892-15C>G
|
|
|
NM_006096.4(NDRG1):c.892-15C>T
|
|
|
NM_006096.4(NDRG1):c.892-17C>G
|
|
|
NM_006096.4(NDRG1):c.892-9C>T
|
rs987790520
|
|
NM_006096.4(NDRG1):c.892C>T (p.Pro298Ser)
|
|
|
NM_006096.4(NDRG1):c.894G>C (p.Pro298=)
|
|
|
NM_006096.4(NDRG1):c.906T>C (p.Ala302=)
|
|
|
NM_006096.4(NDRG1):c.906T>G (p.Ala302=)
|
rs572270834
|
|
NM_006096.4(NDRG1):c.927G>T (p.Val309=)
|
rs770527044
|
|
NM_006096.4(NDRG1):c.943+19G>A
|
rs113140810
|
|
NM_006096.4(NDRG1):c.943+19G>T
|
rs113140810
|
|
NM_006096.4(NDRG1):c.943+5G>A
|
rs778982295
|
|
NM_006096.4(NDRG1):c.943+7dup
|
rs2130667511
|
|
NM_006096.4(NDRG1):c.944-17G>A
|
|
|
NM_006096.4(NDRG1):c.944-20G>T
|
rs2130656881
|
|
NM_006096.4(NDRG1):c.944-4C>G
|
|
|
NM_006096.4(NDRG1):c.944-6C>T
|
rs1588216759
|
|
NM_006096.4(NDRG1):c.944-7C>A
|
|
|
NM_006096.4(NDRG1):c.944-7C>T
|
|
|
NM_006096.4(NDRG1):c.948C>A (p.Pro316=)
|
rs1001191483
|
|
NM_006096.4(NDRG1):c.948C>T (p.Pro316=)
|
rs1001191483
|
|
NM_006096.4(NDRG1):c.951G>A (p.Ser317=)
|
rs1310471207
|
|
NM_006096.4(NDRG1):c.956G>A (p.Ser319Asn)
|
rs1564277421
|
|
NM_006096.4(NDRG1):c.956G>T (p.Ser319Ile)
|
|
|
NM_006096.4(NDRG1):c.963C>A (p.Thr321=)
|
|
|
NM_006096.4(NDRG1):c.963C>G (p.Thr321=)
|
rs1399154074
|
|
NM_006096.4(NDRG1):c.964C>T (p.Arg322Cys)
|
rs368404338
|
|
NM_006096.4(NDRG1):c.965G>T (p.Arg322Leu)
|
rs1307068606
|
|
NM_006096.4(NDRG1):c.969G>A (p.Leu323=)
|
|
|
NM_006096.4(NDRG1):c.96C>G (p.Val32=)
|
rs2130785583
|
|
NM_006096.4(NDRG1):c.973C>A (p.Arg325=)
|
rs141078746
|
|
NM_006096.4(NDRG1):c.973C>T (p.Arg325Trp)
|
rs141078746
|
|
NM_006096.4(NDRG1):c.980G>A (p.Arg327His)
|
rs565705964
|
|
NM_006096.4(NDRG1):c.980_981delinsTT (p.Arg327Leu)
|
|
|
NM_006096.4(NDRG1):c.983C>T (p.Thr328Ile)
|
|
|
NM_006096.4(NDRG1):c.986C>A (p.Ala329Asp)
|
|
|
NM_006096.4(NDRG1):c.987C>G (p.Ala329=)
|
rs778770054
|
|
NM_006096.4(NDRG1):c.99+10G>A
|
|
|
NM_006096.4(NDRG1):c.99+10G>T
|
rs1210845048
|
|
NM_006096.4(NDRG1):c.99+12A>T
|
|
|
NM_006096.4(NDRG1):c.99+14G>A
|
|
|
NM_006096.4(NDRG1):c.99+18C>A
|
|
|
NM_006096.4(NDRG1):c.99+18C>G
|
|
|
NM_006096.4(NDRG1):c.99+1G>A
|
rs2130785568
|
|
NM_006096.4(NDRG1):c.990T>G (p.Ser330=)
|
rs2130656420
|
|
NM_014845.6(FIG4):c.1012A>G (p.Thr338Ala)
|
|
|
NM_014845.6(FIG4):c.1012A>T (p.Thr338Ser)
|
rs771265385
|
|
NM_014845.6(FIG4):c.1015A>G (p.Met339Val)
|
rs2128386978
|
|
NM_014845.6(FIG4):c.1039+14T>C
|
|
|
NM_014845.6(FIG4):c.1039+5G>T
|
|
|
NM_014845.6(FIG4):c.1039+6T>C
|
|
|
NM_014845.6(FIG4):c.1039+7G>A
|
|
|
NM_014845.6(FIG4):c.1039+8G>A
|
rs2128386984
|
|
NM_014845.6(FIG4):c.1040-16C>G
|
|
|
NM_014845.6(FIG4):c.1040-17T>C
|
rs1476656802
|
|
NM_014845.6(FIG4):c.1040-18A>G
|
|
|
NM_014845.6(FIG4):c.1040-1G>A
|
|
|
NM_014845.6(FIG4):c.1065T>C (p.His355=)
|
|
|
NM_014845.6(FIG4):c.1066G>A (p.Val356Met)
|
|
|
NM_014845.6(FIG4):c.1071T>C (p.Ala357=)
|
|
|
NM_014845.6(FIG4):c.1085A>T (p.Asp362Val)
|
rs1776394936
|
|
NM_014845.6(FIG4):c.1090A>C (p.Met364Leu)
|
rs2295837
|
|
NM_014845.6(FIG4):c.1096C>T (p.Gln366Ter)
|
rs2128387076
|
|
NM_014845.6(FIG4):c.1097A>G (p.Gln366Arg)
|
|
|
NM_014845.6(FIG4):c.1101G>T (p.Arg367Ser)
|
|
|
NM_014845.6(FIG4):c.1112C>G (p.Pro371Arg)
|
rs2128387082
|
|
NM_014845.6(FIG4):c.1116C>G (p.Ile372Met)
|
rs754932535
|
|
NM_014845.6(FIG4):c.112G>A (p.Val38Ile)
|
rs761940298
|
|
NM_014845.6(FIG4):c.1134del (p.Lys379fs)
|
|
|
NM_014845.6(FIG4):c.1137+12T>G
|
|
|
NM_014845.6(FIG4):c.1137+8G>T
|
rs779200387
|
|
NM_014845.6(FIG4):c.1138-18G>A
|
|
|
NM_014845.6(FIG4):c.1138-1G>A
|
|
|
NM_014845.6(FIG4):c.1163G>T (p.Arg388Ile)
|
rs2128391017
|
|
NM_014845.6(FIG4):c.117G>A (p.Leu39=)
|
|
|
NM_014845.6(FIG4):c.1181TTG[1] (p.Val395del)
|
rs1777062850
|
|
NM_014845.6(FIG4):c.1187C>T (p.Ala396Val)
|
rs758599286
|
|
NM_014845.6(FIG4):c.1199A>G (p.Tyr400Cys)
|
rs755232396
|
|
NM_014845.6(FIG4):c.1205del (p.Asn402fs)
|
rs1554303800
|
|
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter)
|
rs879253926
|
|
NM_014845.6(FIG4):c.1209A>G (p.Gln403=)
|
|
|
NM_014845.6(FIG4):c.120G>T (p.Lys40Asn)
|
rs1346518731
|
|
NM_014845.6(FIG4):c.1215G>A (p.Leu405=)
|
|
|
NM_014845.6(FIG4):c.1221T>C (p.Pro407=)
|
|
|
NM_014845.6(FIG4):c.1224G>T (p.Glu408Asp)
|
|
|
NM_014845.6(FIG4):c.1225C>A (p.His409Asn)
|
rs748995164
|
|
NM_014845.6(FIG4):c.1225C>T (p.His409Tyr)
|
rs748995164
|
|
NM_014845.6(FIG4):c.1227del (p.His409fs)
|
|
|
NM_014845.6(FIG4):c.1232T>C (p.Ile411Thr)
|
|
|
NM_014845.6(FIG4):c.1260G>A (p.Lys420=)
|
|
|
NM_014845.6(FIG4):c.1270A>G (p.Ser424Gly)
|
rs1777066450
|
|
NM_014845.6(FIG4):c.1271+1G>A
|
|
|
NM_014845.6(FIG4):c.1271+9T>C
|
rs1336280554
|
|
NM_014845.6(FIG4):c.1272-10C>G
|
rs201293291
|
|
NM_014845.6(FIG4):c.1272-10C>T
|
rs201293291
|
|
NM_014845.6(FIG4):c.1272-14C>T
|
|
|
NM_014845.6(FIG4):c.1272-20A>G
|
|
|
NM_014845.6(FIG4):c.1272-3C>T
|
|
|
NM_014845.6(FIG4):c.1272-8C>T
|
rs1583697467
|
|
NM_014845.6(FIG4):c.1274A>G (p.Lys425Arg)
|
rs2128391428
|
|
NM_014845.6(FIG4):c.1278G>A (p.Leu426=)
|
|
|
NM_014845.6(FIG4):c.1287T>A (p.Val429=)
|
|
|
NM_014845.6(FIG4):c.1290T>C (p.Leu430=)
|
|
|
NM_014845.6(FIG4):c.1297C>T (p.Leu433=)
|
|
|
NM_014845.6(FIG4):c.1312G>A (p.Glu438Lys)
|
rs2128391437
|
|
NM_014845.6(FIG4):c.1316G>A (p.Ser439Asn)
|
|
|
NM_014845.6(FIG4):c.131C>T (p.Thr44Ile)
|
rs375629140
|
|
NM_014845.6(FIG4):c.1327A>T (p.Lys443Ter)
|
rs2128391439
|
|
NM_014845.6(FIG4):c.132A>G (p.Thr44=)
|
rs553864727
|
|
NM_014845.6(FIG4):c.1349G>A (p.Arg450His)
|
rs188547769
|
|
NM_014845.6(FIG4):c.1349G>T (p.Arg450Leu)
|
rs188547769
|
|
NM_014845.6(FIG4):c.1355A>G (p.Asp452Gly)
|
rs1777129902
|
|
NM_014845.6(FIG4):c.1363T>G (p.Cys455Gly)
|
rs1012991465
|
|
NM_014845.6(FIG4):c.1373dup (p.Leu458fs)
|
rs770043095
|
|
NM_014845.6(FIG4):c.1374G>A (p.Leu458=)
|
|
|
NM_014845.6(FIG4):c.1377G>T (p.Arg459=)
|
rs2128391467
|
|
NM_014845.6(FIG4):c.137C>G (p.Pro46Arg)
|
rs1562642404
|
|
NM_014845.6(FIG4):c.1380A>G (p.Pro460=)
|
|
|
NM_014845.6(FIG4):c.1388+10G>C
|
|
|
NM_014845.6(FIG4):c.1388+5G>T
|
rs200730266
|
|
NM_014845.6(FIG4):c.1388+7A>G
|
|
|
NM_014845.6(FIG4):c.1388+8T>A
|
rs1255543487
|
|
NM_014845.6(FIG4):c.1389-15T>C
|
|
|
NM_014845.6(FIG4):c.1389-18G>A
|
|
|
NM_014845.6(FIG4):c.1389-19T>G
|
|
|
NM_014845.6(FIG4):c.138A>C (p.Pro46=)
|
|
|
NM_014845.6(FIG4):c.1410T>C (p.Cys470=)
|
|
|
NM_014845.6(FIG4):c.1412_1413del (p.Val471fs)
|
rs2128391901
|
|
NM_014845.6(FIG4):c.1424G>A (p.Gly475Asp)
|
rs1777192183
|
|
NM_014845.6(FIG4):c.1428C>G (p.Arg476=)
|
|
|
NM_014845.6(FIG4):c.1434+18A>G
|
|
|
NM_014845.6(FIG4):c.1435-4T>G
|
|
|
NM_014845.6(FIG4):c.1435-6C>G
|
|
|
NM_014845.6(FIG4):c.1435A>G (p.Thr479Ala)
|
|
|
NM_014845.6(FIG4):c.1443C>T (p.Ile481=)
|
rs1583701662
|
|
NM_014845.6(FIG4):c.1445_1452del (p.Leu482fs)
|
rs2128392205
|
|
NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter)
|
|
|
NM_014845.6(FIG4):c.1504A>G (p.Lys502Glu)
|
|
|
NM_014845.6(FIG4):c.1521T>C (p.Tyr507=)
|
|
|
NM_014845.6(FIG4):c.1538del (p.Gly513fs)
|
rs1777242231
|
|
NM_014845.6(FIG4):c.1545T>A (p.Ile515=)
|
|
|
NM_014845.6(FIG4):c.1548C>G (p.Asp516Glu)
|
|
|
NM_014845.6(FIG4):c.1551A>G (p.Lys517=)
|
|
|
NM_014845.6(FIG4):c.1557T>C (p.Asn519=)
|
|
|
NM_014845.6(FIG4):c.1557T>G (p.Asn519Lys)
|
|
|
NM_014845.6(FIG4):c.156del (p.Ile52fs)
|
|
|
NM_014845.6(FIG4):c.1571C>T (p.Thr524Ile)
|
|
|
NM_014845.6(FIG4):c.1574A>G (p.Asp525Gly)
|
|
|
NM_014845.6(FIG4):c.157G>A (p.Asp53Asn)
|
rs121908290
|
|
NM_014845.6(FIG4):c.1583+16dup
|
rs769229381
|
|
NM_014845.6(FIG4):c.1583+20A>C
|
rs377162452
|
|
NM_014845.6(FIG4):c.1583+20A>G
|
rs377162452
|
|
NM_014845.6(FIG4):c.1583+3A>G
|
rs866431185
|
|
NM_014845.6(FIG4):c.1583+7C>T
|
|
|
NM_014845.6(FIG4):c.1584-10C>T
|
|
|
NM_014845.6(FIG4):c.1584-10del
|
|
|
NM_014845.6(FIG4):c.1584-14T>G
|
|
|
NM_014845.6(FIG4):c.1584-18G>A
|
|
|
NM_014845.6(FIG4):c.1584-1G>T
|
|
|
NM_014845.6(FIG4):c.1584-3T>C
|
|
|
NM_014845.6(FIG4):c.1585T>C (p.Leu529=)
|
|
|
NM_014845.6(FIG4):c.165+10C>T
|
|
|
NM_014845.6(FIG4):c.165+17C>T
|
rs1390100492
|
|
NM_014845.6(FIG4):c.165+2T>C
|
|
|
NM_014845.6(FIG4):c.165+2T>G
|
|
|
NM_014845.6(FIG4):c.165+8T>C
|
rs1775391813
|
|
NM_014845.6(FIG4):c.1658G>C (p.Arg553Pro)
|
rs1422048624
|
|
NM_014845.6(FIG4):c.166-10T>C
|
|
|
NM_014845.6(FIG4):c.166-11C>G
|
rs200978101
|
|
NM_014845.6(FIG4):c.166-16A>T
|
|
|
NM_014845.6(FIG4):c.166-7T>C
|
rs2128381583
|
|
NM_014845.6(FIG4):c.1666dup (p.Thr556fs)
|
rs772320287
|
|
NM_014845.6(FIG4):c.1679T>C (p.Ile560Thr)
|
|
|
NM_014845.6(FIG4):c.1686A>G (p.Pro562=)
|
|
|
NM_014845.6(FIG4):c.1688G>A (p.Trp563Ter)
|
rs2128392620
|
|
NM_014845.6(FIG4):c.16G>T (p.Ala6Ser)
|
rs868101103
|
|
NM_014845.6(FIG4):c.1708A>G (p.Ile570Val)
|
|
|
NM_014845.6(FIG4):c.170T>A (p.Val57Asp)
|
rs1775432556
|
|
NM_014845.6(FIG4):c.1710C>T (p.Ile570=)
|
|
|
NM_014845.6(FIG4):c.1712T>G (p.Met571Arg)
|
rs2128392626
|
|
NM_014845.6(FIG4):c.1714C>T (p.Gln572Ter)
|
|
|
NM_014845.6(FIG4):c.1731T>C (p.Tyr577=)
|
|
|
NM_014845.6(FIG4):c.1734C>T (p.Tyr578=)
|
rs1224727049
|
|
NM_014845.6(FIG4):c.1740T>C (p.Asn580=)
|
rs1554304608
|
|
NM_014845.6(FIG4):c.1749_1750+7del
|
rs1777296419
|
|
NM_014845.6(FIG4):c.1750+1del
|
rs764770160
|
|
NM_014845.6(FIG4):c.1751-17T>C
|
|
|
NM_014845.6(FIG4):c.1752T>A (p.Asp584Glu)
|
rs1060501402
|
|
NM_014845.6(FIG4):c.1758T>C (p.Asp586=)
|
|
|
NM_014845.6(FIG4):c.175A>G (p.Thr59Ala)
|
rs748869342
|
|
NM_014845.6(FIG4):c.1762C>T (p.Gln588Ter)
|
rs2128394568
|
|
NM_014845.6(FIG4):c.1764A>G (p.Gln588=)
|
|
|
NM_014845.6(FIG4):c.1765G>C (p.Asp589His)
|
rs1777637029
|
|
NM_014845.6(FIG4):c.1779C>T (p.Leu593=)
|
|
|
NM_014845.6(FIG4):c.177T>G (p.Thr59=)
|
|
|
NM_014845.6(FIG4):c.1799C>T (p.Pro600Leu)
|
|
|
NM_014845.6(FIG4):c.1801A>G (p.Thr601Ala)
|
rs986837200
|
|
NM_014845.6(FIG4):c.1802C>T (p.Thr601Ile)
|
rs1777638670
|
|
NM_014845.6(FIG4):c.1808G>A (p.Gly603Glu)
|
rs754127221
|
|
NM_014845.6(FIG4):c.1808_1811dup (p.Pro605fs)
|
|
|
NM_014845.6(FIG4):c.1823G>T (p.Trp608Leu)
|
rs1375864580
|
|
NM_014845.6(FIG4):c.182A>G (p.Gln61Arg)
|
rs1775433375
|
|
NM_014845.6(FIG4):c.183A>G (p.Gln61=)
|
rs1775433473
|
|
NM_014845.6(FIG4):c.184G>T (p.Glu62Ter)
|
|
|
NM_014845.6(FIG4):c.1870C>T (p.Leu624Phe)
|
rs1777642023
|
|
NM_014845.6(FIG4):c.1877C>T (p.Pro626Leu)
|
rs772937400
|
|
NM_014845.6(FIG4):c.1879A>G (p.Thr627Ala)
|
rs762859144
|
|
NM_014845.6(FIG4):c.1885A>C (p.Arg629=)
|
|
|
NM_014845.6(FIG4):c.1887A>C (p.Arg629Ser)
|
rs1399283870
|
|
NM_014845.6(FIG4):c.1889+6_1889+11dup
|
rs762389374
|
|
NM_014845.6(FIG4):c.1890-14T>G
|
rs1562682595
|
|
NM_014845.6(FIG4):c.1890-16A>T
|
rs544899373
|
|
NM_014845.6(FIG4):c.1890-2A>G
|
rs1777909965
|
|
NM_014845.6(FIG4):c.1890-5T>A
|
|
|
NM_014845.6(FIG4):c.18C>G (p.Ala6=)
|
|
|
NM_014845.6(FIG4):c.1905G>A (p.Trp635Ter)
|
|
|
NM_014845.6(FIG4):c.1913A>G (p.Glu638Gly)
|
|
|
NM_014845.6(FIG4):c.1917G>A (p.Val639=)
|
|
|
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter)
|
rs1488999396
|
|
NM_014845.6(FIG4):c.1931C>A (p.Pro644Gln)
|
|
|
NM_014845.6(FIG4):c.1948+10T>C
|
|
|
NM_014845.6(FIG4):c.1948+13_1948+16del
|
|
|
NM_014845.6(FIG4):c.1948+1G>A
|
|
|
NM_014845.6(FIG4):c.1948+3A>T
|
|
|
NM_014845.6(FIG4):c.1949-10T>A
|
rs896444437
|
|
NM_014845.6(FIG4):c.1949-10TC[2]
|
|
|
NM_014845.6(FIG4):c.1949-12T>C
|
rs2128396238
|
|
NM_014845.6(FIG4):c.1949-16G>T
|
|
|
NM_014845.6(FIG4):c.1949-18A>G
|
|
|
NM_014845.6(FIG4):c.1949-5C>T
|
|
|
NM_014845.6(FIG4):c.1949-6_1949-3del
|
|
|
NM_014845.6(FIG4):c.1952T>C (p.Ile651Thr)
|
rs2128396248
|
|
NM_014845.6(FIG4):c.1954T>C (p.Cys652Arg)
|
|
|
NM_014845.6(FIG4):c.1978A>T (p.Ile660Leu)
|
rs1777954967
|
|
NM_014845.6(FIG4):c.1981G>T (p.Val661Leu)
|
|
|
NM_014845.6(FIG4):c.1986dup (p.Lys663fs)
|
rs1197741113
|
|
NM_014845.6(FIG4):c.1995C>G (p.His665Gln)
|
|
|
NM_014845.6(FIG4):c.1996A>G (p.Lys666Glu)
|
rs781038961
|
|
NM_014845.6(FIG4):c.1999T>C (p.Tyr667His)
|
rs1777955968
|
|
NM_014845.6(FIG4):c.19C>T (p.Pro7Ser)
|
rs1367256224
|
|
NM_014845.6(FIG4):c.1A>G (p.Met1Val)
|
|
|
NM_014845.6(FIG4):c.1_18del (p.Met1_Ala6del)
|
rs2128375200
|
|
NM_014845.6(FIG4):c.2011A>G (p.Ile671Val)
|
rs1554307877
|
|
NM_014845.6(FIG4):c.2031C>G (p.Phe677Leu)
|
|
|
NM_014845.6(FIG4):c.2047T>G (p.Leu683Val)
|
rs761084217
|
|
NM_014845.6(FIG4):c.2052C>A (p.Ser684Arg)
|
rs183958565
|
|
NM_014845.6(FIG4):c.2065dup (p.Thr689fs)
|
rs1777959239
|
|
NM_014845.6(FIG4):c.2066C>A (p.Thr689Asn)
|
rs1470703929
|
|
NM_014845.6(FIG4):c.2067C>T (p.Thr689=)
|
|
|
NM_014845.6(FIG4):c.206G>A (p.Arg69His)
|
|
|
NM_014845.6(FIG4):c.2071dup (p.Cys691fs)
|
|
|
NM_014845.6(FIG4):c.2073C>T (p.Cys691=)
|
|
|
NM_014845.6(FIG4):c.2079T>A (p.Ala693=)
|
|
|
NM_014845.6(FIG4):c.207C>T (p.Arg69=)
|
rs1583643073
|
|
NM_014845.6(FIG4):c.2080A>C (p.Met694Leu)
|
|
|
NM_014845.6(FIG4):c.2096+10G>A
|
|
|
NM_014845.6(FIG4):c.2096+10G>T
|
rs1459717981
|
|
NM_014845.6(FIG4):c.2096+11T>C
|
|
|
NM_014845.6(FIG4):c.2096+7T>G
|
rs2128396287
|
|
NM_014845.6(FIG4):c.2096+8G>A
|
|
|
NM_014845.6(FIG4):c.2096+9T>C
|
rs2128396288
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014845.6(FIG4):c.2097-10C>T
|
rs142482745
|
|
NM_014845.6(FIG4):c.2098G>T (p.Asp700Tyr)
|
rs1554308483
|
|
NM_014845.6(FIG4):c.2124T>C (p.Ile708=)
|
|
|
NM_014845.6(FIG4):c.2127T>C (p.Asp709=)
|
|
|
NM_014845.6(FIG4):c.2136A>G (p.Pro712=)
|
|
|
NM_014845.6(FIG4):c.2149A>G (p.Lys717Glu)
|
rs1259009213
|
|
NM_014845.6(FIG4):c.2152C>G (p.Pro718Ala)
|
rs199801181
|
|
NM_014845.6(FIG4):c.2157T>C (p.Asp719=)
|
rs2128396853
|
|
NM_014845.6(FIG4):c.2161del (p.Thr721fs)
|
rs2128396856
|
|
NM_014845.6(FIG4):c.2176T>C (p.Leu726=)
|
|
|
NM_014845.6(FIG4):c.2177T>G (p.Leu726Trp)
|
rs1778084158
|
|
NM_014845.6(FIG4):c.2180+1del
|
|
|
NM_014845.6(FIG4):c.2180+3A>G
|
rs1778084325
|
|
NM_014845.6(FIG4):c.2181-10C>A
|
rs1583740892
|
|
NM_014845.6(FIG4):c.2181-18A>G
|
|
|
NM_014845.6(FIG4):c.2183A>G (p.Asn728Ser)
|
rs1778129763
|
|
NM_014845.6(FIG4):c.2192A>G (p.Asn731Ser)
|
rs1467094847
|
|
NM_014845.6(FIG4):c.21del (p.Ile8fs)
|
|
|
NM_014845.6(FIG4):c.2201A>G (p.Glu734Gly)
|
|
|
NM_014845.6(FIG4):c.2204C>G (p.Ala735Gly)
|
rs2128397245
|
|
NM_014845.6(FIG4):c.2205T>C (p.Ala735=)
|
|
|
NM_014845.6(FIG4):c.2208A>G (p.Val736=)
|
|
|
NM_014845.6(FIG4):c.2209T>C (p.Leu737=)
|
|
|
NM_014845.6(FIG4):c.2215C>T (p.Arg739Trp)
|
rs773877685
|
|
NM_014845.6(FIG4):c.2223G>A (p.Thr741=)
|
|
|
NM_014845.6(FIG4):c.2223G>T (p.Thr741=)
|
rs181012139
|
|
NM_014845.6(FIG4):c.2241G>A (p.Pro747=)
|
rs148589135
|
|
NM_014845.6(FIG4):c.2241G>C (p.Pro747=)
|
rs148589135
|
|
NM_014845.6(FIG4):c.2242C>T (p.Pro748Ser)
|
|
|
NM_014845.6(FIG4):c.2244C>G (p.Pro748=)
|
rs17854106
|
|
NM_014845.6(FIG4):c.2260G>A (p.Val754Met)
|
rs200691981
|
|
NM_014845.6(FIG4):c.2262G>C (p.Val754=)
|
rs2128397273
|
|
NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs)
|
rs750712213
|
|
NM_014845.6(FIG4):c.2296C>G (p.Arg766Gly)
|
rs552937585
|
|
NM_014845.6(FIG4):c.2297G>A (p.Arg766Gln)
|
|
|
NM_014845.6(FIG4):c.2299dup (p.Glu767fs)
|
rs1191997383
|
|
NM_014845.6(FIG4):c.2302G>T (p.Glu768Ter)
|
rs2128397285
|
|
NM_014845.6(FIG4):c.2324G>A (p.Arg775His)
|
rs775280287
|
|
NM_014845.6(FIG4):c.2325C>T (p.Arg775=)
|
|
|
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys)
|
rs760215765
|
|
NM_014845.6(FIG4):c.2329A>C (p.Thr777Pro)
|
rs1778137467
|
|
NM_014845.6(FIG4):c.2370G>T (p.Val790=)
|
|
|
NM_014845.6(FIG4):c.2376+13G>A
|
|
|
NM_014845.6(FIG4):c.2376+16G>T
|
rs746479599
|
|
NM_014845.6(FIG4):c.2376+1G>A
|
|
|
NM_014845.6(FIG4):c.2376+4C>G
|
|
|
NM_014845.6(FIG4):c.2376+4C>T
|
|
|
NM_014845.6(FIG4):c.2376+5G>C
|
rs528952794
|
|
NM_014845.6(FIG4):c.2376+9dup
|
|
|
NM_014845.6(FIG4):c.2377-10del
|
rs200535694
|
|
NM_014845.6(FIG4):c.2377-11_2377-10del
|
rs200535694
|
|
NM_014845.6(FIG4):c.2377-12T>C
|
rs2128397495
|
|
NM_014845.6(FIG4):c.2377-12_2377-10del
|
|
|
NM_014845.6(FIG4):c.2377-13_2377-10del
|
|
|
NM_014845.6(FIG4):c.2377-19_2377-18insC
|
|
|
NM_014845.6(FIG4):c.2377-6C>A
|
|
|
NM_014845.6(FIG4):c.2377-7del
|
|
|
NM_014845.6(FIG4):c.2378A>C (p.Asn793Thr)
|
|
|
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter)
|
rs1554309093
|
|
NM_014845.6(FIG4):c.2415C>T (p.Asn805=)
|
|
|
NM_014845.6(FIG4):c.2431_2432del (p.Ser811fs)
|
rs1778167481
|
|
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del)
|
rs876661144
|
|
NM_014845.6(FIG4):c.2443T>C (p.Phe815Leu)
|
|
|
NM_014845.6(FIG4):c.2445C>G (p.Phe815Leu)
|
|
|
NM_014845.6(FIG4):c.2459+12T>C
|
|
|
NM_014845.6(FIG4):c.2459+7T>C
|
rs575271308
|
|
NM_014845.6(FIG4):c.2459+8A>G
|
|
|
NM_014845.6(FIG4):c.2459G>T (p.Arg820Ile)
|
|
|
NM_014845.6(FIG4):c.2460-10T>C
|
rs749053854
|
|
NM_014845.6(FIG4):c.2460-12T>A
|
rs1264436643
|
|
NM_014845.6(FIG4):c.2460-14A>G
|
rs558299221
|
|
NM_014845.6(FIG4):c.2460-14A>T
|
rs558299221
|
|
NM_014845.6(FIG4):c.2460-5T>A
|
|
|
NM_014845.6(FIG4):c.2466T>G (p.Val822=)
|
rs2128398444
|
|
NM_014845.6(FIG4):c.2485C>T (p.His829Tyr)
|
rs1778299963
|
|
NM_014845.6(FIG4):c.2523G>A (p.Arg841=)
|
rs1554309865
|
|
NM_014845.6(FIG4):c.2546+10A>G
|
|
|
NM_014845.6(FIG4):c.2546+16G>A
|
|
|
NM_014845.6(FIG4):c.2546+17A>C
|
rs1050332219
|
|
NM_014845.6(FIG4):c.2546+5G>A
|
rs1060501401
|
|
NM_014845.6(FIG4):c.2547-3T>A
|
rs537171532
|
|
NM_014845.6(FIG4):c.2547-5T>G
|
rs200267243
|
|
NM_014845.6(FIG4):c.2551C>T (p.Pro851Ser)
|
rs773347231
|
|
NM_014845.6(FIG4):c.2559_2560delinsAT (p.Ala854Ser)
|
rs2128402653
|
|
NM_014845.6(FIG4):c.2568G>A (p.Ser856=)
|
rs140055056
|
|
NM_014845.6(FIG4):c.2568G>T (p.Ser856=)
|
rs140055056
|
|
NM_014845.6(FIG4):c.2574T>C (p.Asp858=)
|
rs1583785957
|
|
NM_014845.6(FIG4):c.2582A>G (p.Tyr861Cys)
|
rs2128402659
|
|
NM_014845.6(FIG4):c.2591A>G (p.Gln864Arg)
|
rs539773516
|
|
NM_014845.6(FIG4):c.2607C>G (p.Asp869Glu)
|
|
|
NM_014845.6(FIG4):c.2623A>T (p.Ile875Phe)
|
|
|
NM_014845.6(FIG4):c.2639T>A (p.Ile880Asn)
|
rs746915624
|
|
NM_014845.6(FIG4):c.263G>T (p.Arg88Leu)
|
|
|
NM_014845.6(FIG4):c.2643G>A (p.Gln881=)
|
|
|
NM_014845.6(FIG4):c.2645C>A (p.Ala882Asp)
|
rs2128402682
|
|
NM_014845.6(FIG4):c.2653G>A (p.Gly885Ser)
|
rs2128402684
|
|
NM_014845.6(FIG4):c.2662C>T (p.Gln888Ter)
|
rs1306576733
|
|
NM_014845.6(FIG4):c.2669T>G (p.Leu890Arg)
|
rs2128402689
|
|
NM_014845.6(FIG4):c.2672G>A (p.Gly891Glu)
|
|
|
NM_014845.6(FIG4):c.267G>A (p.Ala89=)
|
|
|
NM_014845.6(FIG4):c.2680G>A (p.Asp894Asn)
|
|
|
NM_014845.6(FIG4):c.2706C>T (p.Ile902=)
|
|
|
NM_014845.6(FIG4):c.2714G>A (p.Arg905His)
|
rs780921285
|
|
NM_014845.6(FIG4):c.281G>A (p.Gly94Asp)
|
rs1775437078
|
|
NM_014845.6(FIG4):c.285T>A (p.Val95=)
|
|
|
NM_014845.6(FIG4):c.289+13C>A
|
|
|
NM_014845.6(FIG4):c.289+13C>T
|
rs1334113726
|
|
NM_014845.6(FIG4):c.289+16C>T
|
|
|
NM_014845.6(FIG4):c.289+17C>A
|
rs368282150
|
|
NM_014845.6(FIG4):c.289+18del
|
|
|
NM_014845.6(FIG4):c.289+18dup
|
|
|
NM_014845.6(FIG4):c.289+19T>G
|
|
|
NM_014845.6(FIG4):c.290-20C>T
|
|
|
NM_014845.6(FIG4):c.290-5C>T
|
|
|
NM_014845.6(FIG4):c.290-7del
|
rs2128384000
|
|
NM_014845.6(FIG4):c.299G>T (p.Arg100Met)
|
|
|
NM_014845.6(FIG4):c.29G>A (p.Ser10Asn)
|
rs979929537
|
|
NM_014845.6(FIG4):c.301T>C (p.Phe101Leu)
|
rs1209947403
|
|
NM_014845.6(FIG4):c.314A>G (p.Tyr105Cys)
|
|
|
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs)
|
rs1562648414
|
|
NM_014845.6(FIG4):c.326TAA[1] (p.Ile110del)
|
|
|
NM_014845.6(FIG4):c.337A>C (p.Arg113=)
|
|
|
NM_014845.6(FIG4):c.359G>A (p.Gly120Glu)
|
rs1775846393
|
|
NM_014845.6(FIG4):c.363T>A (p.Gly121=)
|
|
|
NM_014845.6(FIG4):c.381C>T (p.Val127=)
|
|
|
NM_014845.6(FIG4):c.38A>G (p.Gln13Arg)
|
rs1774392570
|
|
NM_014845.6(FIG4):c.395T>G (p.Met132Arg)
|
|
|
NM_014845.6(FIG4):c.397A>G (p.Ile133Val)
|
rs777011122
|
|
NM_014845.6(FIG4):c.3_23dup (p.Met1_Pro7dup)
|
rs1462234190
|
|
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser)
|
rs571563767
|
|
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys)
|
rs571563767
|
|
NM_014845.6(FIG4):c.413A>G (p.Asp138Gly)
|
rs1775848896
|
|
NM_014845.6(FIG4):c.414T>A (p.Asp138Glu)
|
rs1562648534
|
|
NM_014845.6(FIG4):c.423G>A (p.Arg141=)
|
rs766129182
|
|
NM_014845.6(FIG4):c.434C>T (p.Pro145Leu)
|
rs1775849908
|
|
NM_014845.6(FIG4):c.446+16A>G
|
rs1330337335
|
|
NM_014845.6(FIG4):c.446+18T>C
|
|
|
NM_014845.6(FIG4):c.446+21dup
|
rs1321436747
|
|
NM_014845.6(FIG4):c.446+3A>G
|
rs201642753
|
|
NM_014845.6(FIG4):c.447-10_447-9insC
|
rs2128385199
|
|
NM_014845.6(FIG4):c.447-15T>G
|
|
|
NM_014845.6(FIG4):c.447-16_447-13del
|
rs753412030
|
|
NM_014845.6(FIG4):c.447-16_447-14del
|
|
|
NM_014845.6(FIG4):c.447-16_447-15insCT
|
|
|
NM_014845.6(FIG4):c.447-16del
|
|
|
NM_014845.6(FIG4):c.447-17dup
|
rs764540259
|
|
NM_014845.6(FIG4):c.447-18_447-17del
|
|
|
NM_014845.6(FIG4):c.447-18_447-17dup
|
|
|
NM_014845.6(FIG4):c.447-2A>C
|
rs866895236
|
|
NM_014845.6(FIG4):c.447-3del
|
rs11377100
|
|
NM_014845.6(FIG4):c.447-3dup
|
rs11377100
|
|
NM_014845.6(FIG4):c.447-4_447-3dup
|
rs11377100
|
|
NM_014845.6(FIG4):c.447-565_447-564inv
|
|
|
NM_014845.6(FIG4):c.447-5_447-3dup
|
|
|
NM_014845.6(FIG4):c.449A>G (p.Tyr150Cys)
|
rs1233666827
|
|
NM_014845.6(FIG4):c.451C>T (p.Leu151=)
|
|
|
NM_014845.6(FIG4):c.453A>G (p.Leu151=)
|
|
|
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter)
|
rs1175493477
|
|
NM_014845.6(FIG4):c.463C>T (p.Gln155Ter)
|
|
|
NM_014845.6(FIG4):c.475C>G (p.Leu159Val)
|
|
|
NM_014845.6(FIG4):c.485A>T (p.Asn162Ile)
|
rs2128385214
|
|
NM_014845.6(FIG4):c.486T>C (p.Asn162=)
|
|
|
NM_014845.6(FIG4):c.490del (p.Tyr164fs)
|
rs769986219
|
|
NM_014845.6(FIG4):c.497+10A>T
|
rs2128385219
|
|
NM_014845.6(FIG4):c.497+7G>A
|
rs140111950
|
|
NM_014845.6(FIG4):c.497G>A (p.Ser166Asn)
|
|
|
NM_014845.6(FIG4):c.498-14A>G
|
|
|
NM_014845.6(FIG4):c.498-15C>A
|
rs2128385652
|
|
NM_014845.6(FIG4):c.498-2A>G
|
rs1554300952
|
|
NM_014845.6(FIG4):c.506A>G (p.Tyr169Cys)
|
|
|
NM_014845.6(FIG4):c.512_514del (p.Leu171del)
|
rs763532476
|
|
NM_014845.6(FIG4):c.516C>T (p.Ser172=)
|
rs759246119
|
|
NM_014845.6(FIG4):c.527A>G (p.Gln176Arg)
|
rs1776123608
|
|
NM_014845.6(FIG4):c.528A>G (p.Gln176=)
|
rs1562652753
|
|
NM_014845.6(FIG4):c.533A>C (p.Asn178Thr)
|
|
|
NM_014845.6(FIG4):c.535C>G (p.Leu179Val)
|
rs141116831
|
|
NM_014845.6(FIG4):c.539C>T (p.Thr180Ile)
|
|
|
NM_014845.6(FIG4):c.553C>A (p.Pro185Thr)
|
|
|
NM_014845.6(FIG4):c.557del (p.Leu186fs)
|
|
|
NM_014845.6(FIG4):c.57G>C (p.Glu19Asp)
|
rs2128375315
|
|
NM_014845.6(FIG4):c.590G>A (p.Arg197His)
|
|
|
NM_014845.6(FIG4):c.590G>T (p.Arg197Leu)
|
rs543462663
|
|
NM_014845.6(FIG4):c.591C>T (p.Arg197=)
|
|
|
NM_014845.6(FIG4):c.592C>G (p.Gln198Glu)
|
|
|
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
|
|
|
NM_014845.6(FIG4):c.618T>C (p.Asp206=)
|
rs1208786525
|
|
NM_014845.6(FIG4):c.61A>G (p.Arg21Gly)
|
|
|
NM_014845.6(FIG4):c.62G>A (p.Arg21Lys)
|
rs1041331138
|
|
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)
|
rs529048339
|
|
NM_014845.6(FIG4):c.646+13G>A
|
|
|
NM_014845.6(FIG4):c.646+20C>G
|
|
|
NM_014845.6(FIG4):c.646+7G>T
|
rs2128385685
|
|
NM_014845.6(FIG4):c.647-10del
|
|
|
NM_014845.6(FIG4):c.647-20T>C
|
|
|
NM_014845.6(FIG4):c.647-4del
|
|
|
NM_014845.6(FIG4):c.66+11C>A
|
|
|
NM_014845.6(FIG4):c.66+14C>T
|
rs1319217856
|
|
NM_014845.6(FIG4):c.66+17G>C
|
|
|
NM_014845.6(FIG4):c.66+19C>G
|
|
|
NM_014845.6(FIG4):c.66+20G>C
|
|
|
NM_014845.6(FIG4):c.66+9C>G
|
|
|
NM_014845.6(FIG4):c.67-15C>T
|
|
|
NM_014845.6(FIG4):c.67-18A>G
|
|
|
NM_014845.6(FIG4):c.67-1G>A
|
|
|
NM_014845.6(FIG4):c.67-8A>G
|
|
|
NM_014845.6(FIG4):c.676A>G (p.Met226Val)
|
|
|
NM_014845.6(FIG4):c.67A>G (p.Arg23Gly)
|
rs1775386814
|
|
NM_014845.6(FIG4):c.684T>C (p.Tyr228=)
|
rs1296081777
|
|
NM_014845.6(FIG4):c.69A>G (p.Arg23=)
|
rs1775386908
|
|
NM_014845.6(FIG4):c.705G>T (p.Leu235=)
|
rs1026195072
|
|
NM_014845.6(FIG4):c.725T>C (p.Val242Ala)
|
|
|
NM_014845.6(FIG4):c.741T>C (p.Leu247=)
|
|
|
NM_014845.6(FIG4):c.756T>G (p.His252Gln)
|
|
|
NM_014845.6(FIG4):c.759del (p.Phe254fs)
|
rs764717219
|
|
NM_014845.6(FIG4):c.760T>C (p.Phe254Leu)
|
rs2128386168
|
|
NM_014845.6(FIG4):c.762C>T (p.Phe254=)
|
rs201013726
|
|
NM_014845.6(FIG4):c.775+10C>T
|
|
|
NM_014845.6(FIG4):c.775+20del
|
|
|
NM_014845.6(FIG4):c.775+5C>G
|
rs1776227879
|
|
NM_014845.6(FIG4):c.783del (p.Ile262fs)
|
rs1161553940
|
|
NM_014845.6(FIG4):c.793C>A (p.Arg265=)
|
rs774294963
|
|
NM_014845.6(FIG4):c.7A>T (p.Thr3Ser)
|
|
|
NM_014845.6(FIG4):c.803A>G (p.Tyr268Cys)
|
|
|
NM_014845.6(FIG4):c.805G>T (p.Val269Phe)
|
rs1474263523
|
|
NM_014845.6(FIG4):c.811C>T (p.Leu271=)
|
rs1360869637
|
|
NM_014845.6(FIG4):c.813A>G (p.Leu271=)
|
rs2128386644
|
|
NM_014845.6(FIG4):c.823A>C (p.Arg275=)
|
|
|
NM_014845.6(FIG4):c.831_838del (p.Lys278fs)
|
rs786200937
|
|
NM_014845.6(FIG4):c.843C>T (p.Gly281=)
|
rs1776323553
|
|
NM_014845.6(FIG4):c.848G>A (p.Arg283His)
|
rs1562655830
|
|
NM_014845.6(FIG4):c.852T>C (p.Phe284=)
|
rs2128386650
|
|
NM_014845.6(FIG4):c.865G>A (p.Ala289Thr)
|
rs1776324068
|
|
NM_014845.6(FIG4):c.870C>T (p.Asn290=)
|
rs1236653957
|
|
NM_014845.6(FIG4):c.876+2T>G
|
rs2128386656
|
|
NM_014845.6(FIG4):c.876+7_876+13dup
|
|
|
NM_014845.6(FIG4):c.877-15C>T
|
|
|
NM_014845.6(FIG4):c.877-7T>C
|
|
|
NM_014845.6(FIG4):c.882T>C (p.Asp294=)
|
rs776821372
|
|
NM_014845.6(FIG4):c.892G>C (p.Glu298Gln)
|
|
|
NM_014845.6(FIG4):c.911T>C (p.Ile304Thr)
|
|
|
NM_014845.6(FIG4):c.915C>T (p.Leu305=)
|
|
|
NM_014845.6(FIG4):c.935C>G (p.Ser312Cys)
|
|
|
NM_014845.6(FIG4):c.962A>G (p.Tyr321Cys)
|
|
|
NM_014845.6(FIG4):c.976G>A (p.Gly326Arg)
|
rs778157600
|
|
NM_014845.6(FIG4):c.998C>T (p.Ser333Phe)
|
|
|
NM_016156.6(MTMR2):c.1005A>C (p.Gly335=)
|
|
|
NM_016156.6(MTMR2):c.1029T>C (p.Tyr343=)
|
|
|
NM_016156.6(MTMR2):c.1034del (p.Asn345fs)
|
rs863224516
|
|
NM_016156.6(MTMR2):c.1071T>C (p.His357=)
|
rs2135434145
|
|
NM_016156.6(MTMR2):c.10A>G (p.Ser4Gly)
|
rs1867038226
|
|
NM_016156.6(MTMR2):c.1118A>G (p.Asn373Ser)
|
rs778906960
|
|
NM_016156.6(MTMR2):c.1140G>C (p.Leu380Phe)
|
rs2135433928
|
|
NM_016156.6(MTMR2):c.1143T>G (p.Ser381=)
|
|
|
NM_016156.6(MTMR2):c.1170A>G (p.Glu390=)
|
rs199736240
|
|
NM_016156.6(MTMR2):c.1175T>C (p.Ile392Thr)
|
rs1555060014
|
|
NM_016156.6(MTMR2):c.1179+16T>C
|
|
|
NM_016156.6(MTMR2):c.1180-11C>G
|
|
|
NM_016156.6(MTMR2):c.1180-17A>T
|
|
|
NM_016156.6(MTMR2):c.1180-4C>T
|
|
|
NM_016156.6(MTMR2):c.1180-9G>A
|
rs1347066495
|
|
NM_016156.6(MTMR2):c.1184T>C (p.Ile395Thr)
|
rs774525225
|
|
NM_016156.6(MTMR2):c.1220A>G (p.Glu407Gly)
|
rs1863726953
|
|
NM_016156.6(MTMR2):c.1221G>C (p.Glu407Asp)
|
|
|
NM_016156.6(MTMR2):c.1236T>C (p.Ser412=)
|
|
|
NM_016156.6(MTMR2):c.1239G>A (p.Val413=)
|
|
|
NM_016156.6(MTMR2):c.1239_1240del (p.Val414fs)
|
rs1863723947
|
|
NM_016156.6(MTMR2):c.1281C>T (p.Leu427=)
|
rs199542109
|
|
NM_016156.6(MTMR2):c.1299C>T (p.Leu433=)
|
|
|
NM_016156.6(MTMR2):c.131T>C (p.Val44Ala)
|
|
|
NM_016156.6(MTMR2):c.1349A>T (p.Glu450Val)
|
|
|
NM_016156.6(MTMR2):c.1351A>G (p.Lys451Glu)
|
|
|
NM_016156.6(MTMR2):c.1363A>C (p.Ser455Arg)
|
rs1590978234
|
|
NM_016156.6(MTMR2):c.1364G>A (p.Ser455Asn)
|
rs1565348037
|
|
NM_016156.6(MTMR2):c.1375C>A (p.Arg459=)
|
|
|
NM_016156.6(MTMR2):c.1377A>T (p.Arg459=)
|
|
|
NM_016156.6(MTMR2):c.1386+13C>T
|
|
|
NM_016156.6(MTMR2):c.1386+17G>A
|
|
|
NM_016156.6(MTMR2):c.1387-13_1387-12del
|
|
|
NM_016156.6(MTMR2):c.1387-3C>T
|
rs2135417340
|
|
NM_016156.6(MTMR2):c.1387-8T>C
|
|
|
NM_016156.6(MTMR2):c.1389A>G (p.Arg463=)
|
rs2135417320
|
|
NM_016156.6(MTMR2):c.1410C>T (p.Asn470=)
|
|
|
NM_016156.6(MTMR2):c.1411C>T (p.His471Tyr)
|
rs1193305699
|
|
NM_016156.6(MTMR2):c.141A>G (p.Ser47=)
|
|
|
NM_016156.6(MTMR2):c.1425C>T (p.Asp475=)
|
rs2135417226
|
|
NM_016156.6(MTMR2):c.1431G>C (p.Ser477=)
|
rs200285624
|
|
NM_016156.6(MTMR2):c.1434T>G (p.Pro478=)
|
rs2135417185
|
|
NM_016156.6(MTMR2):c.1454_1457del (p.Asp485fs)
|
rs1590974596
|
|
NM_016156.6(MTMR2):c.1457G>C (p.Cys486Ser)
|
rs765313279
|
|
NM_016156.6(MTMR2):c.1458T>C (p.Cys486=)
|
|
|
NM_016156.6(MTMR2):c.1459_1460del (p.Val487fs)
|
rs758637255
|
|
NM_016156.6(MTMR2):c.1462T>C (p.Trp488Arg)
|
|
|
NM_016156.6(MTMR2):c.1479+19_1479+23del
|
|
|
NM_016156.6(MTMR2):c.1480-18G>A
|
|
|
NM_016156.6(MTMR2):c.1480-4G>C
|
rs1590971136
|
|
NM_016156.6(MTMR2):c.1531C>T (p.His511Tyr)
|
rs761100126
|
|
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs)
|
rs1555057316
|
|
NM_016156.6(MTMR2):c.1552G>A (p.Gly518Arg)
|
rs1014132718
|
|
NM_016156.6(MTMR2):c.155C>T (p.Thr52Ile)
|
rs2135548901
|
|
NM_016156.6(MTMR2):c.1562T>A (p.Leu521His)
|
rs1565344022
|
|
NM_016156.6(MTMR2):c.157T>A (p.Ser53Thr)
|
rs2135548895
|
|
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter)
|
rs1863365049
|
|
NM_016156.6(MTMR2):c.1593+9T>G
|
rs1590970870
|
|
NM_016156.6(MTMR2):c.1594-4A>G
|
rs1863282999
|
|
NM_016156.6(MTMR2):c.1637G>A (p.Ser546Asn)
|
rs376530848
|
|
NM_016156.6(MTMR2):c.1637G>C (p.Ser546Thr)
|
rs376530848
|
|
NM_016156.6(MTMR2):c.163G>A (p.Asp55Asn)
|
|
|
NM_016156.6(MTMR2):c.1641G>A (p.Gln547=)
|
|
|
NM_016156.6(MTMR2):c.1643T>A (p.Leu548Gln)
|
rs2135402121
|
|
NM_016156.6(MTMR2):c.1648G>T (p.Asp550Tyr)
|
rs2135402110
|
|
NM_016156.6(MTMR2):c.1651T>C (p.Phe551Leu)
|
rs1863277955
|
|
NM_016156.6(MTMR2):c.1667A>G (p.Tyr556Cys)
|
|
|
NM_016156.6(MTMR2):c.1674C>T (p.Ser558=)
|
rs1555056924
|
|
NM_016156.6(MTMR2):c.1682A>C (p.Asn561Thr)
|
|
|
NM_016156.6(MTMR2):c.1695T>C (p.Tyr565=)
|
rs1555056916
|
|
NM_016156.6(MTMR2):c.1707C>T (p.Ser569=)
|
|
|
NM_016156.6(MTMR2):c.1721A>G (p.Glu574Gly)
|
rs771548803
|
|
NM_016156.6(MTMR2):c.1723C>G (p.Leu575Val)
|
rs1863269909
|
|
NM_016156.6(MTMR2):c.1734A>G (p.Gly578=)
|
|
|
NM_016156.6(MTMR2):c.1756C>G (p.Arg586Gly)
|
|
|
NM_016156.6(MTMR2):c.1756C>T (p.Arg586Trp)
|
|
|
NM_016156.6(MTMR2):c.1763A>C (p.Lys588Thr)
|
rs1863268067
|
|
NM_016156.6(MTMR2):c.1770+12A>G
|
rs1863265850
|
|
NM_016156.6(MTMR2):c.1770+15A>G
|
|
|
NM_016156.6(MTMR2):c.1770+18T>C
|
|
|
NM_016156.6(MTMR2):c.1770+20C>A
|
|
|
NM_016156.6(MTMR2):c.1770+3A>T
|
|
|
NM_016156.6(MTMR2):c.1770+4T>C
|
rs1565342479
|
|
NM_016156.6(MTMR2):c.1770+7G>C
|
rs908222470
|
|
NM_016156.6(MTMR2):c.1770+9_1770+20del
|
rs958180213
|
|
NM_016156.6(MTMR2):c.1771-17_1771-16del
|
|
|
NM_016156.6(MTMR2):c.1774C>T (p.Pro592Ser)
|
rs749010549
|
|
NM_016156.6(MTMR2):c.1776T>C (p.Pro592=)
|
|
|
NM_016156.6(MTMR2):c.1776T>G (p.Pro592=)
|
rs1590968097
|
|
NM_016156.6(MTMR2):c.177T>G (p.Pro59=)
|
|
|
NM_016156.6(MTMR2):c.1807A>G (p.Lys603Glu)
|
|
|
NM_016156.6(MTMR2):c.1810C>A (p.Arg604=)
|
rs138746296
|
|
NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter)
|
rs138746296
|
|
NM_016156.6(MTMR2):c.1826A>G (p.Lys609Arg)
|
|
|
NM_016156.6(MTMR2):c.1829_1830dup (p.Val611fs)
|
|
|
NM_016156.6(MTMR2):c.1830dup (p.Val611fs)
|
|
|
NM_016156.6(MTMR2):c.1843C>T (p.Gln615Ter)
|
rs886048770
|
|
NM_016156.6(MTMR2):c.1847G>A (p.Arg616Lys)
|
rs2135399090
|
|
NM_016156.6(MTMR2):c.184_186del (p.Arg62del)
|
rs141498429
|
|
NM_016156.6(MTMR2):c.1851_1852del (p.Glu617fs)
|
rs769866540
|
|
NM_016156.6(MTMR2):c.1852A>C (p.Ile618Leu)
|
rs1392067749
|
|
NM_016156.6(MTMR2):c.1856C>G (p.Ser619Cys)
|
|
|
NM_016156.6(MTMR2):c.186+19A>T
|
rs12385798
|
|
NM_016156.6(MTMR2):c.186+19_186+20delinsTA
|
|
|
NM_016156.6(MTMR2):c.1862G>C (p.Arg621Pro)
|
rs371925152
|
|
NM_016156.6(MTMR2):c.1867A>G (p.Thr623Ala)
|
rs770755992
|
|
NM_016156.6(MTMR2):c.186G>T (p.Arg62Ser)
|
rs2135548808
|
|
NM_016156.6(MTMR2):c.187-16G>A
|
|
|
NM_016156.6(MTMR2):c.187-16G>T
|
|
|
NM_016156.6(MTMR2):c.187-17dup
|
rs1195059303
|
|
NM_016156.6(MTMR2):c.1876T>A (p.Ser626Thr)
|
|
|
NM_016156.6(MTMR2):c.1879G>A (p.Glu627Lys)
|
rs1863216623
|
|
NM_016156.6(MTMR2):c.1882A>C (p.Arg628=)
|
|
|
NM_016156.6(MTMR2):c.1882_1885dup (p.Ala629fs)
|
rs751292488
|
|
NM_016156.6(MTMR2):c.1884A>C (p.Arg628Ser)
|
rs747684213
|
|
NM_016156.6(MTMR2):c.1896T>G (p.Pro632=)
|
rs780764646
|
|
NM_016156.6(MTMR2):c.18C>T (p.Ser6=)
|
|
|
NM_016156.6(MTMR2):c.1916del (p.Val639fs)
|
rs779740723
|
|
NM_016156.6(MTMR2):c.1917C>G (p.Val639=)
|
|
|
NM_016156.6(MTMR2):c.1923T>C (p.Thr641=)
|
|
|
NM_016156.6(MTMR2):c.20_21delinsTT (p.Cys7Phe)
|
rs1867037031
|
|
NM_016156.6(MTMR2):c.223G>C (p.Glu75Gln)
|
rs1237939737
|
|
NM_016156.6(MTMR2):c.22G>C (p.Glu8Gln)
|
|
|
NM_016156.6(MTMR2):c.232T>A (p.Leu78Met)
|
rs750344055
|
|
NM_016156.6(MTMR2):c.24G>C (p.Glu8Asp)
|
rs2135659936
|
|
NM_016156.6(MTMR2):c.262+5G>A
|
rs1565361115
|
|
NM_016156.6(MTMR2):c.263-14T>C
|
|
|
NM_016156.6(MTMR2):c.263-20_263-19del
|
|
|
NM_016156.6(MTMR2):c.263-9C>A
|
rs200746130
|
|
NM_016156.6(MTMR2):c.282A>G (p.Ile94Met)
|
rs769020850
|
|
NM_016156.6(MTMR2):c.305G>A (p.Arg102Gln)
|
rs1864454618
|
|
NM_016156.6(MTMR2):c.308G>A (p.Gly103Glu)
|
rs1590997541
|
|
NM_016156.6(MTMR2):c.30T>C (p.Leu10=)
|
|
|
NM_016156.6(MTMR2):c.313C>G (p.Leu105Val)
|
rs2135475998
|
|
NM_016156.6(MTMR2):c.349A>G (p.Met117Val)
|
rs2135475834
|
|
NM_016156.6(MTMR2):c.352G>A (p.Glu118Lys)
|
rs1864451374
|
|
NM_016156.6(MTMR2):c.355C>G (p.Arg119Gly)
|
rs142774695
|
|
NM_016156.6(MTMR2):c.355C>T (p.Arg119Trp)
|
|
|
NM_016156.6(MTMR2):c.357+16G>C
|
|
|
NM_016156.6(MTMR2):c.358-14_358-12del
|
|
|
NM_016156.6(MTMR2):c.358-15T>C
|
|
|
NM_016156.6(MTMR2):c.358-8T>C
|
|
|
NM_016156.6(MTMR2):c.370_372del (p.Val124del)
|
rs2135475047
|
|
NM_016156.6(MTMR2):c.37C>T (p.Gln13Ter)
|
|
|
NM_016156.6(MTMR2):c.404T>C (p.Val135Ala)
|
rs1864439728
|
|
NM_016156.6(MTMR2):c.408A>C (p.Glu136Asp)
|
rs1555065024
|
|
NM_016156.6(MTMR2):c.42G>A (p.Pro14=)
|
|
|
NM_016156.6(MTMR2):c.431G>A (p.Arg144Gln)
|
rs1555065007
|
|
NM_016156.6(MTMR2):c.432_434del (p.Gly145del)
|
rs1864437836
|
|
NM_016156.6(MTMR2):c.444T>G (p.Ser148=)
|
rs1555065002
|
|
NM_016156.6(MTMR2):c.450A>T (p.Gly150=)
|
|
|
NM_016156.6(MTMR2):c.454_458del (p.Glu152fs)
|
rs1590997023
|
|
NM_016156.6(MTMR2):c.45G>A (p.Ala15=)
|
|
|
NM_016156.6(MTMR2):c.464_465del (p.Val154_Cys155insTer)
|
rs1358449243
|
|
NM_016156.6(MTMR2):c.468+12_468+16del
|
|
|
NM_016156.6(MTMR2):c.468+17G>A
|
|
|
NM_016156.6(MTMR2):c.469-3T>C
|
rs191224855
|
|
NM_016156.6(MTMR2):c.483A>G (p.Leu161=)
|
rs2135464887
|
|
NM_016156.6(MTMR2):c.484C>T (p.Arg162Ter)
|
|
|
NM_016156.6(MTMR2):c.48G>C (p.Ala16=)
|
|
|
NM_016156.6(MTMR2):c.48G>T (p.Ala16=)
|
|
|
NM_016156.6(MTMR2):c.506G>A (p.Gly169Glu)
|
rs1864296648
|
|
NM_016156.6(MTMR2):c.508C>T (p.Arg170Trp)
|
rs1419183415
|
|
NM_016156.6(MTMR2):c.523A>G (p.Ile175Val)
|
rs1864295304
|
|
NM_016156.6(MTMR2):c.533A>G (p.Asn178Ser)
|
rs1055618502
|
|
NM_016156.6(MTMR2):c.546T>C (p.Tyr182=)
|
|
|
NM_016156.6(MTMR2):c.553C>T (p.Pro185Ser)
|
rs577896427
|
|
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu)
|
rs574213477
|
|
NM_016156.6(MTMR2):c.571-12_571-11del
|
|
|
NM_016156.6(MTMR2):c.571-8_571-7insG
|
|
|
NM_016156.6(MTMR2):c.579dup (p.Ala194fs)
|
|
|
NM_016156.6(MTMR2):c.59C>T (p.Pro20Leu)
|
rs952672162
|
|
NM_016156.6(MTMR2):c.600A>G (p.Val200=)
|
|
|
NM_016156.6(MTMR2):c.60C>T (p.Pro20=)
|
|
|
NM_016156.6(MTMR2):c.62G>A (p.Ser21Asn)
|
|
|
NM_016156.6(MTMR2):c.630C>T (p.Asp210=)
|
|
|
NM_016156.6(MTMR2):c.637T>G (p.Leu213Val)
|
|
|
NM_016156.6(MTMR2):c.651G>A (p.Arg217=)
|
|
|
NM_016156.6(MTMR2):c.654+11T>C
|
|
|
NM_016156.6(MTMR2):c.655-13A>C
|
|
|
NM_016156.6(MTMR2):c.655-4G>C
|
rs745547533
|
|
NM_016156.6(MTMR2):c.655-4G>T
|
rs745547533
|
|
NM_016156.6(MTMR2):c.655-7C>T
|
rs775390447
|
|
NM_016156.6(MTMR2):c.655-8A>C
|
|
|
NM_016156.6(MTMR2):c.679A>G (p.Ile227Val)
|
|
|
NM_016156.6(MTMR2):c.67G>T (p.Asp23Tyr)
|
rs1225667280
|
|
NM_016156.6(MTMR2):c.698G>A (p.Arg233Gln)
|
rs758629389
|
|
NM_016156.6(MTMR2):c.718T>A (p.Tyr240Asn)
|
rs1863982879
|
|
NM_016156.6(MTMR2):c.721C>T (p.Pro241Ser)
|
rs540766159
|
|
NM_016156.6(MTMR2):c.752C>T (p.Pro251Leu)
|
|
|
NM_016156.6(MTMR2):c.753TGA[1] (p.Asp252del)
|
rs878855016
|
|
NM_016156.6(MTMR2):c.75G>C (p.Leu25Phe)
|
rs1376231939
|
|
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs)
|
rs769429967
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NM_016156.6(MTMR2):c.80+14C>T
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NM_016156.6(MTMR2):c.80+14_80+43del
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NM_016156.6(MTMR2):c.80+17G>T
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NM_016156.6(MTMR2):c.80+19G>T
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NM_016156.6(MTMR2):c.80+6C>T
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NM_016156.6(MTMR2):c.80+8G>A
|
rs1867028752
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NM_016156.6(MTMR2):c.800T>C (p.Ile267Thr)
|
rs1863978401
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NM_016156.6(MTMR2):c.804+16G>A
|
rs2135442209
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NM_016156.6(MTMR2):c.804+1G>C
|
rs1565351898
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NM_016156.6(MTMR2):c.804+2T>G
|
rs1555061026
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NM_016156.6(MTMR2):c.804+7A>G
|
rs1159867051
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NM_016156.6(MTMR2):c.804+8G>T
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NM_016156.6(MTMR2):c.805-13T>A
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NM_016156.6(MTMR2):c.805-15T>A
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NM_016156.6(MTMR2):c.805-16T>A
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NM_016156.6(MTMR2):c.805-19C>G
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NM_016156.6(MTMR2):c.805-4T>G
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NM_016156.6(MTMR2):c.805-6A>G
|
rs766235741
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NM_016156.6(MTMR2):c.805-7C>G
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NM_016156.6(MTMR2):c.81-12T>C
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NM_016156.6(MTMR2):c.81-13T>C
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NM_016156.6(MTMR2):c.81-16C>T
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NM_016156.6(MTMR2):c.81-17A>G
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NM_016156.6(MTMR2):c.810A>G (p.Leu270=)
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NM_016156.6(MTMR2):c.812C>T (p.Ser271Leu)
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NM_016156.6(MTMR2):c.832C>T (p.Gln278Ter)
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rs757563721
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NM_016156.6(MTMR2):c.840A>G (p.Thr280=)
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NM_016156.6(MTMR2):c.843C>A (p.Ile281=)
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rs1217314381
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NM_016156.6(MTMR2):c.871G>A (p.Val291Met)
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NM_016156.6(MTMR2):c.874del (p.Ser292fs)
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rs1863944217
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NM_016156.6(MTMR2):c.884G>T (p.Arg295Leu)
|
rs777854770
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NM_016156.6(MTMR2):c.88A>G (p.Thr30Ala)
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NM_016156.6(MTMR2):c.892G>A (p.Glu298Lys)
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rs2135439554
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NM_016156.6(MTMR2):c.8A>G (p.Lys3Arg)
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rs3824874
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NM_016156.6(MTMR2):c.907C>G (p.Leu303Val)
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NM_016156.6(MTMR2):c.909T>G (p.Leu303=)
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NM_016156.6(MTMR2):c.928_929insTGATATTTACTGAGTACAGTAA (p.Asn310fs)
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NM_016156.6(MTMR2):c.946A>T (p.Ile316Phe)
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NM_016156.6(MTMR2):c.947dup (p.Phe317fs)
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NM_016156.6(MTMR2):c.94C>T (p.His32Tyr)
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rs1591025020
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NM_016156.6(MTMR2):c.959A>G (p.Asp320Gly)
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NM_016156.6(MTMR2):c.965G>A (p.Arg322Gln)
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rs2135439249
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NM_016156.6(MTMR2):c.971G>A (p.Ser324Asn)
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rs2135439231
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NM_016156.6(MTMR2):c.981T>G (p.Ala327=)
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rs2135439193
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NM_016156.6(MTMR2):c.993+1G>A
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rs1555060614
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NM_016156.6(MTMR2):c.993+20A>G
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NM_016156.6(MTMR2):c.994-15T>C
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NM_016156.6(MTMR2):c.999G>A (p.Lys333=)
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NM_018972.4(GDAP1):c.1014G>A (p.Met338Ile)
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NM_018972.4(GDAP1):c.1014G>C (p.Met338Ile)
|
rs759748392
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NM_018972.4(GDAP1):c.1019dup (p.Arg341fs)
|
rs756461496
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NM_018972.4(GDAP1):c.102= (p.Ser34=)
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NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn)
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rs1380854548
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NM_018972.4(GDAP1):c.1042A>G (p.Ile348Val)
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rs775559344
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NM_018972.4(GDAP1):c.1048G>A (p.Ala350Thr)
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NM_018972.4(GDAP1):c.105C>T (p.Phe35=)
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NM_018972.4(GDAP1):c.1063C>A (p.Pro355Thr)
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rs1219244427
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NM_018972.4(GDAP1):c.1063C>T (p.Pro355Ser)
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rs1219244427
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NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp)
|
rs765609133
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NM_018972.4(GDAP1):c.1067A>G (p.Asn356Ser)
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NM_018972.4(GDAP1):c.108C>A (p.Ser36Arg)
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NM_018972.4(GDAP1):c.111T>G (p.Ser37=)
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NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)
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rs761035569
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NM_018972.4(GDAP1):c.116del (p.Lys39fs)
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rs778547659
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NM_018972.4(GDAP1):c.117+19G>A
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NM_018972.4(GDAP1):c.117+1G>A
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rs1808804404
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NM_018972.4(GDAP1):c.117+3A>G
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NM_018972.4(GDAP1):c.118-15T>C
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NM_018972.4(GDAP1):c.118-16G>A
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rs757760120
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NM_018972.4(GDAP1):c.118-3C>G
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rs750762719
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NM_018972.4(GDAP1):c.118-7C>G
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NM_018972.4(GDAP1):c.118-8T>G
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NM_018972.4(GDAP1):c.118-9C>A
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NM_018972.4(GDAP1):c.11G>A (p.Arg4Lys)
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NM_018972.4(GDAP1):c.139A>T (p.Lys47Ter)
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NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter)
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rs2131493453
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NM_018972.4(GDAP1):c.166G>A (p.Val56Ile)
|
rs1808860135
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NM_018972.4(GDAP1):c.167dup (p.Ser57fs)
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NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg)
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rs863224774
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NM_018972.4(GDAP1):c.171T>G (p.Ser57Arg)
|
rs774799079
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NM_018972.4(GDAP1):c.178T>G (p.Leu60Val)
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NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn)
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rs1808861763
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NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)
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rs1808862287
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NM_018972.4(GDAP1):c.196C>T (p.Pro66Ser)
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rs773136934
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NM_018972.4(GDAP1):c.1A>G (p.Met1Val)
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NM_018972.4(GDAP1):c.1del (p.Met1fs)
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NM_018972.4(GDAP1):c.200G>T (p.Trp67Leu)
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NM_018972.4(GDAP1):c.207G>A (p.Met69Ile)
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rs770714080
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NM_018972.4(GDAP1):c.215A>G (p.Asn72Ser)
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|
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NM_018972.4(GDAP1):c.22C>T (p.Gln8Ter)
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rs1586794015
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NM_018972.4(GDAP1):c.235_239del (p.Val79fs)
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rs1243845978
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NM_018972.4(GDAP1):c.238C>T (p.Leu80Phe)
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NM_018972.4(GDAP1):c.23A>G (p.Gln8Arg)
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rs879253884
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NM_018972.4(GDAP1):c.243C>T (p.Ile81=)
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rs2131496261
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NM_018972.4(GDAP1):c.244C>A (p.His82Asn)
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NM_018972.4(GDAP1):c.245A>G (p.His82Arg)
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NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg)
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rs1586795373
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NM_018972.4(GDAP1):c.250G>C (p.Glu84Gln)
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NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter)
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rs1808867656
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NM_018972.4(GDAP1):c.250del (p.Glu84fs)
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rs1241632021
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NM_018972.4(GDAP1):c.257T>A (p.Ile86Lys)
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NM_018972.4(GDAP1):c.259A>G (p.Ile87Val)
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rs2131496333
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NM_018972.4(GDAP1):c.25A>G (p.Arg9Gly)
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|
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NM_018972.4(GDAP1):c.27_28del (p.Gly10fs)
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rs2131493519
|
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NM_018972.4(GDAP1):c.302T>A (p.Phe101Tyr)
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rs1808871960
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NM_018972.4(GDAP1):c.310+1G>A
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rs1808872865
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NM_018972.4(GDAP1):c.310+20C>G
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NM_018972.4(GDAP1):c.310+4A>G
|
rs1808873168
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NM_018972.4(GDAP1):c.310+5T>C
|
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NM_018972.4(GDAP1):c.310+8del
|
rs1279865642
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NM_018972.4(GDAP1):c.311-11G>A
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NM_018972.4(GDAP1):c.311-1790_408del
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NM_018972.4(GDAP1):c.311-6T>C
|
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NM_018972.4(GDAP1):c.311-6T>G
|
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NM_018972.4(GDAP1):c.346A>T (p.Met116Leu)
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NM_018972.4(GDAP1):c.350A>G (p.Tyr117Cys)
|
rs1809288442
|
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NM_018972.4(GDAP1):c.357A>G (p.Pro119=)
|
rs2131512519
|
|
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu)
|
rs1174933176
|
|
NM_018972.4(GDAP1):c.360G>A (p.Arg120=)
|
|
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NM_018972.4(GDAP1):c.361del (p.Val121fs)
|
rs2131512540
|
|
NM_018972.4(GDAP1):c.363ACA[1] (p.Gln122del)
|
|
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NM_018972.4(GDAP1):c.367del (p.His123fs)
|
|
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NM_018972.4(GDAP1):c.368A>G (p.His123Arg)
|
rs397515442
|
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NM_018972.4(GDAP1):c.373C>G (p.Arg125Gly)
|
|
|
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys)
|
rs879254005
|
|
NM_018972.4(GDAP1):c.387C>T (p.Asp129=)
|
|
|
NM_018972.4(GDAP1):c.391T>C (p.Leu131=)
|
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NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe)
|
rs1586803187
|
|
NM_018972.4(GDAP1):c.395del (p.Pro132fs)
|
|
|
NM_018972.4(GDAP1):c.39C>A (p.Pro13=)
|
|
|
NM_018972.4(GDAP1):c.404C>G (p.Ala135Gly)
|
|
|
NM_018972.4(GDAP1):c.405C>T (p.Ala135=)
|
rs763427538
|
|
NM_018972.4(GDAP1):c.408T>C (p.Tyr136=)
|
rs766998162
|
|
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr)
|
rs570990910
|
|
NM_018972.4(GDAP1):c.445G>C (p.Asp149His)
|
rs1443963090
|
|
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr)
|
rs1443963090
|
|
NM_018972.4(GDAP1):c.446A>C (p.Asp149Ala)
|
|
|
NM_018972.4(GDAP1):c.446A>G (p.Asp149Gly)
|
rs1586803296
|
|
NM_018972.4(GDAP1):c.449C>T (p.Ser150Phe)
|
|
|
NM_018972.4(GDAP1):c.450C>T (p.Ser150=)
|
rs752334269
|
|
NM_018972.4(GDAP1):c.456C>G (p.Ile152Met)
|
|
|
NM_018972.4(GDAP1):c.456C>T (p.Ile152=)
|
|
|
NM_018972.4(GDAP1):c.457C>T (p.Pro153Ser)
|
rs2131512957
|
|
NM_018972.4(GDAP1):c.458C>A (p.Pro153Gln)
|
|
|
NM_018972.4(GDAP1):c.45G>A (p.Arg15=)
|
rs749658930
|
|
NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser)
|
rs1809302381
|
|
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly)
|
rs397515441
|
|
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)
|
rs104894079
|
|
NM_018972.4(GDAP1):c.475A>G (p.Arg159Gly)
|
rs1809303639
|
|
NM_018972.4(GDAP1):c.477G>T (p.Arg159Ser)
|
|
|
NM_018972.4(GDAP1):c.480T>A (p.Ile160=)
|
rs1586803400
|
|
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)
|
rs104894076
|
|
NM_018972.4(GDAP1):c.484+19G>A
|
|
|
NM_018972.4(GDAP1):c.484+20A>G
|
|
|
NM_018972.4(GDAP1):c.484+3A>G
|
|
|
NM_018972.4(GDAP1):c.484+6T>C
|
rs2131513088
|
|
NM_018972.4(GDAP1):c.484+6_484+19dup
|
|
|
NM_018972.4(GDAP1):c.485-17A>C
|
|
|
NM_018972.4(GDAP1):c.485-2del
|
|
|
NM_018972.4(GDAP1):c.485-3C>T
|
rs761332159
|
|
NM_018972.4(GDAP1):c.491T>C (p.Ile164Thr)
|
|
|
NM_018972.4(GDAP1):c.492T>C (p.Ile164=)
|
rs1809382139
|
|
NM_018972.4(GDAP1):c.503_504del (p.Glu168fs)
|
rs1221804567
|
|
NM_018972.4(GDAP1):c.506C>T (p.Ser169Phe)
|
|
|
NM_018972.4(GDAP1):c.506_507delinsTG (p.Ser169Leu)
|
rs1809384050
|
|
NM_018972.4(GDAP1):c.531A>G (p.Glu177=)
|
rs1809386519
|
|
NM_018972.4(GDAP1):c.536del (p.Pro179fs)
|
rs1169652308
|
|
NM_018972.4(GDAP1):c.543A>G (p.Leu181=)
|
rs779132911
|
|
NM_018972.4(GDAP1):c.549del (p.Ala184fs)
|
|
|
NM_018972.4(GDAP1):c.550dup (p.Ala184fs)
|
|
|
NM_018972.4(GDAP1):c.557T>C (p.Ile186Thr)
|
rs1809389310
|
|
NM_018972.4(GDAP1):c.55A>G (p.Lys19Glu)
|
|
|
NM_018972.4(GDAP1):c.568A>G (p.Lys190Glu)
|
rs1809389662
|
|
NM_018972.4(GDAP1):c.571C>A (p.Arg191=)
|
rs1554547986
|
|
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)
|
rs1554547986
|
|
NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter)
|
rs1085307665
|
|
NM_018972.4(GDAP1):c.579+1G>A
|
rs864622501
|
|
NM_018972.4(GDAP1):c.579del (p.Lys193fs)
|
rs1060500979
|
|
NM_018972.4(GDAP1):c.580-15T>C
|
|
|
NM_018972.4(GDAP1):c.586C>G (p.Leu196Val)
|
rs1057524488
|
|
NM_018972.4(GDAP1):c.608A>G (p.Lys203Arg)
|
|
|
NM_018972.4(GDAP1):c.618G>A (p.Lys206=)
|
|
|
NM_018972.4(GDAP1):c.618G>T (p.Lys206Asn)
|
rs780629692
|
|
NM_018972.4(GDAP1):c.618dup (p.Lys207fs)
|
rs1809447471
|
|
NM_018972.4(GDAP1):c.61G>A (p.Asp21Asn)
|
rs1367421978
|
|
NM_018972.4(GDAP1):c.633G>A (p.Glu211=)
|
rs2131519229
|
|
NM_018972.4(GDAP1):c.643G>T (p.Val215Phe)
|
|
|
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg)
|
rs556827873
|
|
NM_018972.4(GDAP1):c.656T>C (p.Val219Ala)
|
rs1586806206
|
|
NM_018972.4(GDAP1):c.65C>G (p.Ala22Gly)
|
|
|
NM_018972.4(GDAP1):c.65C>T (p.Ala22Val)
|
|
|
NM_018972.4(GDAP1):c.666A>G (p.Glu222=)
|
|
|
NM_018972.4(GDAP1):c.66G>A (p.Ala22=)
|
|
|
NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro)
|
rs1586806229
|
|
NM_018972.4(GDAP1):c.672A>G (p.Gln224=)
|
|
|
NM_018972.4(GDAP1):c.689C>G (p.Thr230Ser)
|
|
|
NM_018972.4(GDAP1):c.689C>T (p.Thr230Ile)
|
|
|
NM_018972.4(GDAP1):c.694+1G>A
|
rs1183978180
|
|
NM_018972.4(GDAP1):c.694+3A>G
|
|
|
NM_018972.4(GDAP1):c.694+8C>A
|
|
|
NM_018972.4(GDAP1):c.695-19T>C
|
|
|
NM_018972.4(GDAP1):c.695-1G>A
|
rs1809496317
|
|
NM_018972.4(GDAP1):c.695-20A>G
|
|
|
NM_018972.4(GDAP1):c.697G>A (p.Glu233Lys)
|
|
|
NM_018972.4(GDAP1):c.6T>C (p.Ala2=)
|
|
|
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter)
|
rs1554548334
|
|
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
|
|
|
NM_018972.4(GDAP1):c.716T>A (p.Leu239His)
|
|
|
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser)
|
rs121908115
|
|
NM_018972.4(GDAP1):c.72T>G (p.Val24=)
|
rs142674939
|
|
NM_018972.4(GDAP1):c.756T>C (p.Ala252=)
|
|
|
NM_018972.4(GDAP1):c.75G>A (p.Lys25=)
|
rs761730309
|
|
NM_018972.4(GDAP1):c.763T>C (p.Leu255=)
|
rs2131521525
|
|
NM_018972.4(GDAP1):c.765G>C (p.Leu255Phe)
|
rs1809501318
|
|
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg)
|
rs778557691
|
|
NM_018972.4(GDAP1):c.77T>C (p.Leu26Pro)
|
|
|
NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu)
|
rs1563445155
|
|
NM_018972.4(GDAP1):c.786del (p.Phe263fs)
|
rs1060500978
|
|
NM_018972.4(GDAP1):c.793A>G (p.Arg265Gly)
|
|
|
NM_018972.4(GDAP1):c.805G>A (p.Gly269Arg)
|
rs2131521657
|
|
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)
|
rs150989205
|
|
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln)
|
rs879254192
|
|
NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala)
|
rs1563445213
|
|
NM_018972.4(GDAP1):c.834C>G (p.Thr278=)
|
rs2131521778
|
|
NM_018972.4(GDAP1):c.837T>C (p.Tyr279=)
|
rs1309093739
|
|
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser)
|
rs1417699318
|
|
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer)
|
rs1586807387
|
|
NM_018972.4(GDAP1):c.857G>C (p.Arg286Thr)
|
|
|
NM_018972.4(GDAP1):c.85T>G (p.Tyr29Asp)
|
|
|
NM_018972.4(GDAP1):c.866T>A (p.Phe289Tyr)
|
|
|
NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser)
|
rs1563437000
|
|
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg)
|
rs1809508613
|
|
NM_018972.4(GDAP1):c.874G>C (p.Val292Leu)
|
rs767553697
|
|
NM_018972.4(GDAP1):c.880G>A (p.Gly294Arg)
|
rs976792279
|
|
NM_018972.4(GDAP1):c.897A>G (p.Ile299Met)
|
|
|
NM_018972.4(GDAP1):c.89A>T (p.His30Leu)
|
rs896431562
|
|
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala)
|
rs1586807478
|
|
NM_018972.4(GDAP1):c.907G>A (p.Ala303Thr)
|
rs368055667
|
|
NM_018972.4(GDAP1):c.908C>T (p.Ala303Val)
|
rs1440025936
|
|
NM_018972.4(GDAP1):c.912G>T (p.Val304=)
|
|
|
NM_018972.4(GDAP1):c.913C>T (p.Leu305=)
|
|
|
NM_018972.4(GDAP1):c.921A>C (p.Thr307=)
|
|
|
NM_018972.4(GDAP1):c.921A>G (p.Thr307=)
|
|
|
NM_018972.4(GDAP1):c.927C>G (p.Phe309Leu)
|
rs1809513515
|
|
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)
|
rs1323153568
|
|
NM_018972.4(GDAP1):c.930G>A (p.Arg310=)
|
|
|
NM_018972.4(GDAP1):c.934G>A (p.Ala312Thr)
|
|
|
NM_018972.4(GDAP1):c.934del (p.Ala312fs)
|
|
|
NM_018972.4(GDAP1):c.937A>G (p.Lys313Glu)
|
rs1809514361
|
|
NM_018972.4(GDAP1):c.942A>G (p.Lys314=)
|
rs771751303
|
|
NM_018972.4(GDAP1):c.945G>C (p.Arg315Ser)
|
|
|
NM_018972.4(GDAP1):c.947C>A (p.Ala316Asp)
|
|
|
NM_018972.4(GDAP1):c.951A>C (p.Pro317=)
|
|
|
NM_018972.4(GDAP1):c.966G>A (p.Thr322=)
|
|
|
NM_018972.4(GDAP1):c.966G>C (p.Thr322=)
|
|
|
NM_018972.4(GDAP1):c.96G>T (p.Thr32=)
|
|
|
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe)
|
rs1176626666
|
|
NM_018972.4(GDAP1):c.975G>A (p.Val325=)
|
|
|
NM_018972.4(GDAP1):c.975G>T (p.Val325=)
|
|
|
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp)
|
rs1416176817
|
|
NM_018972.4(GDAP1):c.97C>T (p.His33Tyr)
|
|
|
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)
|
rs397515432
|
|
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980
|
|
NM_024577.4(SH3TC2):c.1001+5G>T
|
rs1754315788
|
|
NM_024577.4(SH3TC2):c.1002-13del
|
|
|
NM_024577.4(SH3TC2):c.1005del (p.Ser335fs)
|
rs2127398588
|
|
NM_024577.4(SH3TC2):c.1008G>A (p.Arg336=)
|
rs1754196149
|
|
NM_024577.4(SH3TC2):c.101C>A (p.Ala34Asp)
|
rs1444603403
|
|
NM_024577.4(SH3TC2):c.1031A>G (p.Glu344Gly)
|
rs753849885
|
|
NM_024577.4(SH3TC2):c.1040G>C (p.Cys347Ser)
|
rs1271507097
|
|
NM_024577.4(SH3TC2):c.1053C>A (p.Ala351=)
|
|
|
NM_024577.4(SH3TC2):c.1053C>T (p.Ala351=)
|
rs754936070
|
|
NM_024577.4(SH3TC2):c.1057G>C (p.Gly353Arg)
|
rs1299916015
|
|
NM_024577.4(SH3TC2):c.1061G>C (p.Ser354Thr)
|
|
|
NM_024577.4(SH3TC2):c.106T>C (p.Ser36Pro)
|
rs1580917049
|
|
NM_024577.4(SH3TC2):c.1077G>A (p.Glu359=)
|
|
|
NM_024577.4(SH3TC2):c.1090del (p.Leu364fs)
|
rs2127398558
|
|
NM_024577.4(SH3TC2):c.1102G>A (p.Ala368Thr)
|
rs2127398548
|
|
NM_024577.4(SH3TC2):c.1106G>T (p.Arg369Leu)
|
rs551803988
|
|
NM_024577.4(SH3TC2):c.1131G>T (p.Arg377=)
|
|
|
NM_024577.4(SH3TC2):c.1135+3G>A
|
|
|
NM_024577.4(SH3TC2):c.1136-10C>G
|
|
|
NM_024577.4(SH3TC2):c.1136-5C>T
|
|
|
NM_024577.4(SH3TC2):c.1136-6A>G
|
|
|
NM_024577.4(SH3TC2):c.1138G>A (p.Gly380Arg)
|
rs761184149
|
|
NM_024577.4(SH3TC2):c.1152C>G (p.Ile384Met)
|
|
|
NM_024577.4(SH3TC2):c.1160C>T (p.Pro387Leu)
|
|
|
NM_024577.4(SH3TC2):c.1172T>C (p.Leu391Pro)
|
rs141544031
|
|
NM_024577.4(SH3TC2):c.1177+16G>T
|
|
|
NM_024577.4(SH3TC2):c.1177+5G>A
|
rs1561765688
|
|
NM_024577.4(SH3TC2):c.1178-11T>C
|
|
|
NM_024577.4(SH3TC2):c.1178-14G>A
|
|
|
NM_024577.4(SH3TC2):c.1178-14G>T
|
|
|
NM_024577.4(SH3TC2):c.1178-15T>C
|
|
|
NM_024577.4(SH3TC2):c.1178-18C>T
|
|
|
NM_024577.4(SH3TC2):c.1178-4A>G
|
rs2127397727
|
|
NM_024577.4(SH3TC2):c.1178-8C>A
|
rs202042438
|
|
NM_024577.4(SH3TC2):c.1184A>C (p.Gln395Pro)
|
|
|
NM_024577.4(SH3TC2):c.1190A>G (p.Glu397Gly)
|
|
|
NM_024577.4(SH3TC2):c.1193_1194delinsCC (p.Gly398Ala)
|
rs2127397715
|
|
NM_024577.4(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu)
|
rs1554121791
|
|
NM_024577.4(SH3TC2):c.1204G>C (p.Val402Leu)
|
rs549821020
|
|
NM_024577.4(SH3TC2):c.1205T>C (p.Val402Ala)
|
|
|
NM_024577.4(SH3TC2):c.1209G>C (p.Arg403Ser)
|
rs1212536660
|
|
NM_024577.4(SH3TC2):c.1211C>T (p.Pro404Leu)
|
rs774001683
|
|
NM_024577.4(SH3TC2):c.1213G>T (p.Gly405Cys)
|
|
|
NM_024577.4(SH3TC2):c.1223G>T (p.Trp408Leu)
|
rs777133915
|
|
NM_024577.4(SH3TC2):c.1228G>A (p.Glu410Lys)
|
rs1309091718
|
|
NM_024577.4(SH3TC2):c.1228dup (p.Glu410fs)
|
|
|
NM_024577.4(SH3TC2):c.1244G>C (p.Gly415Ala)
|
rs1561765509
|
|
NM_024577.4(SH3TC2):c.1244G>T (p.Gly415Val)
|
rs1561765509
|
|
NM_024577.4(SH3TC2):c.1245G>T (p.Gly415=)
|
|
|
NM_024577.4(SH3TC2):c.1253A>C (p.Gln418Pro)
|
rs1441405268
|
|
NM_024577.4(SH3TC2):c.1271A>C (p.Asp424Ala)
|
|
|
NM_024577.4(SH3TC2):c.1272C>G (p.Asp424Glu)
|
rs377342074
|
|
NM_024577.4(SH3TC2):c.1273T>G (p.Ser425Ala)
|
rs1469647354
|
|
NM_024577.4(SH3TC2):c.1275C>T (p.Ser425=)
|
|
|
NM_024577.4(SH3TC2):c.1297T>C (p.Ser433Pro)
|
|
|
NM_024577.4(SH3TC2):c.1299G>C (p.Ser433=)
|
rs140904010
|
|
NM_024577.4(SH3TC2):c.1300G>A (p.Ala434Thr)
|
rs1368926236
|
|
NM_024577.4(SH3TC2):c.1305C>A (p.Thr435=)
|
|
|
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr)
|
rs1754119445
|
|
NM_024577.4(SH3TC2):c.1311C>G (p.Asp437Glu)
|
rs749587305
|
|
NM_024577.4(SH3TC2):c.1338C>A (p.Asp446Glu)
|
rs1580901388
|
|
NM_024577.4(SH3TC2):c.1340T>C (p.Leu447Pro)
|
|
|
NM_024577.4(SH3TC2):c.1341T>G (p.Leu447=)
|
|
|
NM_024577.4(SH3TC2):c.1346A>G (p.Asp449Gly)
|
rs1489505012
|
|
NM_024577.4(SH3TC2):c.1347C>A (p.Asp449Glu)
|
|
|
NM_024577.4(SH3TC2):c.1360A>G (p.Met454Val)
|
rs1554121765
|
|
NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer)
|
rs1580901363
|
|
NM_024577.4(SH3TC2):c.1373C>A (p.Thr458Asn)
|
rs1234062925
|
|
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)
|
rs1580901350
|
|
NM_024577.4(SH3TC2):c.1391C>T (p.Ala464Val)
|
|
|
NM_024577.4(SH3TC2):c.1401C>A (p.Phe467Leu)
|
rs150950962
|
|
NM_024577.4(SH3TC2):c.1402G>A (p.Ala468Thr)
|
|
|
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)
|
rs863224780
|
|
NM_024577.4(SH3TC2):c.1406C>T (p.Pro469Leu)
|
|
|
NM_024577.4(SH3TC2):c.1407C>G (p.Pro469=)
|
|
|
NM_024577.4(SH3TC2):c.1408A>G (p.Ile470Val)
|
rs779447016
|
|
NM_024577.4(SH3TC2):c.1408A>T (p.Ile470Leu)
|
|
|
NM_024577.4(SH3TC2):c.1422G>C (p.Leu474=)
|
rs1201058981
|
|
NM_024577.4(SH3TC2):c.1427A>G (p.His476Arg)
|
rs1673272488
|
|
NM_024577.4(SH3TC2):c.142A>T (p.Ile48Phe)
|
rs543440112
|
|
NM_024577.4(SH3TC2):c.1440T>A (p.Ala480=)
|
|
|
NM_024577.4(SH3TC2):c.1451A>T (p.Lys484Met)
|
|
|
NM_024577.4(SH3TC2):c.1462_1465dup (p.Phe489Ter)
|
|
|
NM_024577.4(SH3TC2):c.1463A>G (p.Asp488Gly)
|
rs1416723910
|
|
NM_024577.4(SH3TC2):c.1468T>C (p.Ser490Pro)
|
rs372841815
|
|
NM_024577.4(SH3TC2):c.1469_1471del (p.Ser490del)
|
rs755728218
|
|
NM_024577.4(SH3TC2):c.1488T>C (p.Ser496=)
|
|
|
NM_024577.4(SH3TC2):c.1490C>T (p.Ser497Phe)
|
rs768299505
|
|
NM_024577.4(SH3TC2):c.1504T>C (p.Ser502Pro)
|
rs1754109858
|
|
NM_024577.4(SH3TC2):c.151+15_151+16del
|
rs569906096
|
|
NM_024577.4(SH3TC2):c.151+16A>G
|
|
|
NM_024577.4(SH3TC2):c.151+19C>T
|
|
|
NM_024577.4(SH3TC2):c.1512G>A (p.Glu504=)
|
rs1580901194
|
|
NM_024577.4(SH3TC2):c.152-16C>T
|
|
|
NM_024577.4(SH3TC2):c.1520_1523del (p.Phe507fs)
|
rs1561765311
|
|
NM_024577.4(SH3TC2):c.1531C>G (p.Leu511Val)
|
rs1437440770
|
|
NM_024577.4(SH3TC2):c.1537G>T (p.Ala513Ser)
|
rs1554121737
|
|
NM_024577.4(SH3TC2):c.1546A>T (p.Lys516Ter)
|
rs2127397561
|
|
NM_024577.4(SH3TC2):c.154C>T (p.Leu52=)
|
rs1243181790
|
|
NM_024577.4(SH3TC2):c.1550G>A (p.Trp517Ter)
|
|
|
NM_024577.4(SH3TC2):c.1556_1557insCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys519delinsAsnGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2127397557
|
|
NM_024577.4(SH3TC2):c.1557_1558insGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys520delinsAlaGlyArgGlyGlySerCysLeuTer)
|
rs2127397555
|
|
NM_024577.4(SH3TC2):c.1579C>T (p.His527Tyr)
|
|
|
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val)
|
rs537134516
|
|
NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp)
|
rs863224781
|
|
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln)
|
rs863224454
|
|
NM_024577.4(SH3TC2):c.1589T>C (p.Leu530Pro)
|
|
|
NM_024577.4(SH3TC2):c.1596C>T (p.Phe532=)
|
|
|
NM_024577.4(SH3TC2):c.1597C>T (p.Leu533Phe)
|
rs1554121725
|
|
NM_024577.4(SH3TC2):c.159A>G (p.Thr53=)
|
|
|
NM_024577.4(SH3TC2):c.1603_1611del (p.Gly535_Leu537del)
|
|
|
NM_024577.4(SH3TC2):c.160C>T (p.Leu54Phe)
|
rs759220976
|
|
NM_024577.4(SH3TC2):c.1614C>T (p.Ser538=)
|
|
|
NM_024577.4(SH3TC2):c.1619G>A (p.Arg540Lys)
|
|
|
NM_024577.4(SH3TC2):c.1627A>G (p.Lys543Glu)
|
rs2127397529
|
|
NM_024577.4(SH3TC2):c.1647G>A (p.Val549=)
|
|
|
NM_024577.4(SH3TC2):c.1654G>C (p.Glu552Gln)
|
rs551953142
|
|
NM_024577.4(SH3TC2):c.165C>T (p.Ser55=)
|
|
|
NM_024577.4(SH3TC2):c.1662del (p.Ile555fs)
|
rs863224520
|
|
NM_024577.4(SH3TC2):c.1679del (p.Gly560fs)
|
|
|
NM_024577.4(SH3TC2):c.1689G>C (p.Glu563Asp)
|
|
|
NM_024577.4(SH3TC2):c.1692C>T (p.Asp564=)
|
|
|
NM_024577.4(SH3TC2):c.1698C>T (p.Ser566=)
|
|
|
NM_024577.4(SH3TC2):c.169T>G (p.Cys57Gly)
|
|
|
NM_024577.4(SH3TC2):c.1717dup (p.Ile573fs)
|
|
|
NM_024577.4(SH3TC2):c.1719C>T (p.Ile573=)
|
|
|
NM_024577.4(SH3TC2):c.171T>C (p.Cys57=)
|
|
|
NM_024577.4(SH3TC2):c.172G>A (p.Val58Ile)
|
|
|
NM_024577.4(SH3TC2):c.1731C>T (p.Ala577=)
|
rs2127397492
|
|
NM_024577.4(SH3TC2):c.1738C>A (p.Leu580Met)
|
rs1561765207
|
|
NM_024577.4(SH3TC2):c.1749G>A (p.Arg583=)
|
|
|
NM_024577.4(SH3TC2):c.1754G>A (p.Arg585Lys)
|
rs1754104023
|
|
NM_024577.4(SH3TC2):c.1782G>A (p.Lys594=)
|
rs2127397464
|
|
NM_024577.4(SH3TC2):c.1794G>C (p.Leu598=)
|
rs1554121710
|
|
NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=)
|
rs200332172
|
|
NM_024577.4(SH3TC2):c.1797G>T (p.Leu599=)
|
|
|
NM_024577.4(SH3TC2):c.1798G>A (p.Ala600Thr)
|
|
|
NM_024577.4(SH3TC2):c.1800C>T (p.Ala600=)
|
|
|
NM_024577.4(SH3TC2):c.1803C>T (p.Cys601=)
|
|
|
NM_024577.4(SH3TC2):c.1804del (p.Leu602fs)
|
rs1319576439
|
|
NM_024577.4(SH3TC2):c.1806G>A (p.Leu602=)
|
|
|
NM_024577.4(SH3TC2):c.1823G>A (p.Ser608Asn)
|
|
|
NM_024577.4(SH3TC2):c.1827C>A (p.Ala609=)
|
rs373737817
|
|
NM_024577.4(SH3TC2):c.1829dup (p.His611fs)
|
|
|
NM_024577.4(SH3TC2):c.1837C>T (p.Leu613Phe)
|
|
|
NM_024577.4(SH3TC2):c.1840G>T (p.Asp614Tyr)
|
rs201789838
|
|
NM_024577.4(SH3TC2):c.1845G>A (p.Val615=)
|
rs914238218
|
|
NM_024577.4(SH3TC2):c.1849G>A (p.Ala617Thr)
|
|
|
NM_024577.4(SH3TC2):c.1855G>A (p.Val619Met)
|
|
|
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu)
|
rs1196218767
|
|
NM_024577.4(SH3TC2):c.1868_1869del (p.Gly623fs)
|
rs1554121691
|
|
NM_024577.4(SH3TC2):c.1869G>T (p.Gly623=)
|
rs1219611610
|
|
NM_024577.4(SH3TC2):c.1875G>A (p.Val625=)
|
|
|
NM_024577.4(SH3TC2):c.1876G>T (p.Val626Leu)
|
rs1311201400
|
|
NM_024577.4(SH3TC2):c.187A>G (p.Arg63Gly)
|
|
|
NM_024577.4(SH3TC2):c.1880G>A (p.Gly627Asp)
|
rs1380546665
|
|
NM_024577.4(SH3TC2):c.1896G>A (p.Glu632=)
|
|
|
NM_024577.4(SH3TC2):c.18C>T (p.Cys6=)
|
|
|
NM_024577.4(SH3TC2):c.1905C>T (p.Ala635=)
|
rs2127397406
|
|
NM_024577.4(SH3TC2):c.191G>A (p.Arg64Lys)
|
|
|
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu)
|
rs199991156
|
|
NM_024577.4(SH3TC2):c.1923C>T (p.Arg641=)
|
|
|
NM_024577.4(SH3TC2):c.1929C>T (p.Leu643=)
|
|
|
NM_024577.4(SH3TC2):c.1941C>T (p.Gly647=)
|
|
|
NM_024577.4(SH3TC2):c.1943G>A (p.Arg648Gln)
|
rs149077357
|
|
NM_024577.4(SH3TC2):c.1944G>T (p.Arg648=)
|
|
|
NM_024577.4(SH3TC2):c.1948G>A (p.Glu650Lys)
|
|
|
NM_024577.4(SH3TC2):c.1960C>T (p.Pro654Ser)
|
rs1754098320
|
|
NM_024577.4(SH3TC2):c.1983C>T (p.Leu661=)
|
|
|
NM_024577.4(SH3TC2):c.1988C>G (p.Ser663Cys)
|
rs1754097515
|
|
NM_024577.4(SH3TC2):c.1992A>G (p.Gly664=)
|
rs1380437828
|
|
NM_024577.4(SH3TC2):c.1995C>T (p.His665=)
|
rs751912297
|
|
NM_024577.4(SH3TC2):c.1996C>T (p.Pro666Ser)
|
|
|
NM_024577.4(SH3TC2):c.1998_1999del (p.Pro667fs)
|
|
|
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val)
|
rs864309709
|
|
NM_024577.4(SH3TC2):c.2004del (p.Ser669fs)
|
rs1754097044
|
|
NM_024577.4(SH3TC2):c.2007T>C (p.Ser669=)
|
|
|
NM_024577.4(SH3TC2):c.200A>G (p.Asn67Ser)
|
rs772378888
|
|
NM_024577.4(SH3TC2):c.2015T>C (p.Val672Ala)
|
rs1754096756
|
|
NM_024577.4(SH3TC2):c.2027T>C (p.Leu676Ser)
|
|
|
NM_024577.4(SH3TC2):c.2037G>A (p.Leu679=)
|
|
|
NM_024577.4(SH3TC2):c.2039dup (p.Tyr680Ter)
|
|
|
NM_024577.4(SH3TC2):c.2051A>G (p.Tyr684Cys)
|
|
|
NM_024577.4(SH3TC2):c.2060A>G (p.His687Arg)
|
rs1171441665
|
|
NM_024577.4(SH3TC2):c.2062C>A (p.Leu688Ile)
|
rs773433720
|
|
NM_024577.4(SH3TC2):c.2070G>A (p.Val690=)
|
|
|
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs)
|
rs878855092
|
|
NM_024577.4(SH3TC2):c.2083C>T (p.Gln695Ter)
|
rs770170997
|
|
NM_024577.4(SH3TC2):c.2089G>A (p.Gly697Ser)
|
|
|
NM_024577.4(SH3TC2):c.2090G>T (p.Gly697Val)
|
rs2127397326
|
|
NM_024577.4(SH3TC2):c.2109G>C (p.Gly703=)
|
rs758849704
|
|
NM_024577.4(SH3TC2):c.2116C>A (p.Leu706Ile)
|
rs1317532477
|
|
NM_024577.4(SH3TC2):c.2124T>A (p.Ile708=)
|
rs2127397311
|
|
NM_024577.4(SH3TC2):c.2133C>G (p.Val711=)
|
rs986521742
|
|
NM_024577.4(SH3TC2):c.2136C>T (p.His712=)
|
rs190680171
|
|
NM_024577.4(SH3TC2):c.2145C>T (p.Leu715=)
|
rs1421062539
|
|
NM_024577.4(SH3TC2):c.2146C>T (p.Gln716Ter)
|
rs1561764925
|
|
NM_024577.4(SH3TC2):c.2151C>T (p.Asn717=)
|
|
|
NM_024577.4(SH3TC2):c.2198C>A (p.Ser733Tyr)
|
rs2127397284
|
|
NM_024577.4(SH3TC2):c.2199T>A (p.Ser733=)
|
rs1220210982
|
|
NM_024577.4(SH3TC2):c.21C>G (p.Ile7Met)
|
|
|
NM_024577.4(SH3TC2):c.2201C>T (p.Ala734Val)
|
|
|
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter)
|
rs1318388071
|
|
NM_024577.4(SH3TC2):c.2218C>T (p.Leu740Phe)
|
rs2127397272
|
|
NM_024577.4(SH3TC2):c.2226G>A (p.Gln742=)
|
rs1580900427
|
|
NM_024577.4(SH3TC2):c.2230C>G (p.Leu744Val)
|
rs962648069
|
|
NM_024577.4(SH3TC2):c.2241T>C (p.Cys747=)
|
rs779264091
|
|
NM_024577.4(SH3TC2):c.2253_2256dup (p.Ser754fs)
|
|
|
NM_024577.4(SH3TC2):c.2262C>T (p.Ser754=)
|
|
|
NM_024577.4(SH3TC2):c.2263A>C (p.Thr755Pro)
|
rs1332446150
|
|
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met)
|
rs1754090424
|
|
NM_024577.4(SH3TC2):c.227G>C (p.Arg76Thr)
|
rs1754493155
|
|
NM_024577.4(SH3TC2):c.2285T>C (p.Ile762Thr)
|
rs751351645
|
|
NM_024577.4(SH3TC2):c.2288T>C (p.Leu763Pro)
|
rs1580900331
|
|
NM_024577.4(SH3TC2):c.2297T>C (p.Val766Ala)
|
|
|
NM_024577.4(SH3TC2):c.2299T>C (p.Tyr767His)
|
rs2127397225
|
|
NM_024577.4(SH3TC2):c.229C>A (p.Arg77=)
|
rs185149793
|
|
NM_024577.4(SH3TC2):c.2302C>T (p.Leu768Phe)
|
|
|
NM_024577.4(SH3TC2):c.2311A>G (p.Arg771Gly)
|
rs1754089250
|
|
NM_024577.4(SH3TC2):c.2331C>A (p.Ile777=)
|
|
|
NM_024577.4(SH3TC2):c.2362C>A (p.Gln788Lys)
|
|
|
NM_024577.4(SH3TC2):c.2368C>T (p.Leu790=)
|
rs2127397177
|
|
NM_024577.4(SH3TC2):c.2386T>C (p.Phe796Leu)
|
|
|
NM_024577.4(SH3TC2):c.2389del (p.Glu797fs)
|
|
|
NM_024577.4(SH3TC2):c.2398C>G (p.Leu800Val)
|
|
|
NM_024577.4(SH3TC2):c.239C>A (p.Ala80Glu)
|
|
|
NM_024577.4(SH3TC2):c.2400C>A (p.Leu800=)
|
|
|
NM_024577.4(SH3TC2):c.2410T>G (p.Trp804Gly)
|
|
|
NM_024577.4(SH3TC2):c.2411G>C (p.Trp804Ser)
|
|
|
NM_024577.4(SH3TC2):c.2414C>T (p.Ala805Val)
|
|
|
NM_024577.4(SH3TC2):c.2418T>G (p.Tyr806Ter)
|
rs1561764735
|
|
NM_024577.4(SH3TC2):c.2429G>A (p.Ser810Asn)
|
|
|
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His)
|
rs746538256
|
|
NM_024577.4(SH3TC2):c.243G>A (p.Leu81=)
|
|
|
NM_024577.4(SH3TC2):c.2458G>A (p.Glu820Lys)
|
rs1754083548
|
|
NM_024577.4(SH3TC2):c.2464C>T (p.Leu822=)
|
rs752906301
|
|
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs)
|
rs80338929
|
|
NM_024577.4(SH3TC2):c.2514C>T (p.Ile838=)
|
|
|
NM_024577.4(SH3TC2):c.2534C>T (p.Ala845Val)
|
|
|
NM_024577.4(SH3TC2):c.2538C>T (p.Leu846=)
|
|
|
NM_024577.4(SH3TC2):c.2544T>G (p.Gly848=)
|
|
|
NM_024577.4(SH3TC2):c.2549G>C (p.Gly850Ala)
|
rs749133472
|
|
NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val)
|
rs567173388
|
|
NM_024577.4(SH3TC2):c.2551C>G (p.Arg851Gly)
|
|
|
NM_024577.4(SH3TC2):c.2551_2552delinsAA (p.Arg851Lys)
|
|
|
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs)
|
rs1754081385
|
|
NM_024577.4(SH3TC2):c.2555T>G (p.Val852Gly)
|
|
|
NM_024577.4(SH3TC2):c.2560A>C (p.Arg854=)
|
|
|
NM_024577.4(SH3TC2):c.2576A>G (p.Tyr859Cys)
|
|
|
NM_024577.4(SH3TC2):c.2578C>G (p.Leu860Val)
|
rs139958177
|
|
NM_024577.4(SH3TC2):c.2580T>C (p.Leu860=)
|
|
|
NM_024577.4(SH3TC2):c.2582G>C (p.Arg861Pro)
|
rs142971473
|
|
NM_024577.4(SH3TC2):c.2586C>T (p.Ala862=)
|
|
|
NM_024577.4(SH3TC2):c.2598C>T (p.Ala866=)
|
|
|
NM_024577.4(SH3TC2):c.2600A>T (p.Gln867Leu)
|
|
|
NM_024577.4(SH3TC2):c.2609G>A (p.Gly870Glu)
|
rs1754079774
|
|
NM_024577.4(SH3TC2):c.2615T>C (p.Val872Ala)
|
|
|
NM_024577.4(SH3TC2):c.2634T>C (p.Ala878=)
|
|
|
NM_024577.4(SH3TC2):c.2664G>A (p.Lys888=)
|
|
|
NM_024577.4(SH3TC2):c.2664G>T (p.Lys888Asn)
|
|
|
NM_024577.4(SH3TC2):c.266G>T (p.Arg89Leu)
|
rs189591944
|
|
NM_024577.4(SH3TC2):c.2717A>G (p.Tyr906Cys)
|
|
|
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=)
|
rs148073022
|
|
NM_024577.4(SH3TC2):c.2738A>G (p.Lys913Arg)
|
rs2127397025
|
|
NM_024577.4(SH3TC2):c.2744C>T (p.Thr915Ile)
|
rs1754076431
|
|
NM_024577.4(SH3TC2):c.275T>C (p.Phe92Ser)
|
rs2127402247
|
|
NM_024577.4(SH3TC2):c.2760A>G (p.Val920=)
|
|
|
NM_024577.4(SH3TC2):c.2780C>T (p.Ala927Val)
|
rs1754076016
|
|
NM_024577.4(SH3TC2):c.2785G>C (p.Val929Leu)
|
rs2127397007
|
|
NM_024577.4(SH3TC2):c.2787T>C (p.Val929=)
|
|
|
NM_024577.4(SH3TC2):c.279+13G>C
|
|
|
NM_024577.4(SH3TC2):c.279+17C>T
|
rs991958791
|
|
NM_024577.4(SH3TC2):c.279+20G>C
|
|
|
NM_024577.4(SH3TC2):c.279+6_279+19dup
|
|
|
NM_024577.4(SH3TC2):c.2790G>C (p.Leu930=)
|
|
|
NM_024577.4(SH3TC2):c.280-16T>A
|
rs2127401469
|
|
NM_024577.4(SH3TC2):c.280-18A>G
|
rs1349104801
|
|
NM_024577.4(SH3TC2):c.280-2A>G
|
rs1561770798
|
|
NM_024577.4(SH3TC2):c.280-3T>C
|
|
|
NM_024577.4(SH3TC2):c.2814T>C (p.His938=)
|
|
|
NM_024577.4(SH3TC2):c.2818C>T (p.Leu940Phe)
|
rs1380115510
|
|
NM_024577.4(SH3TC2):c.282C>G (p.Asp94Glu)
|
rs1453743523
|
|
NM_024577.4(SH3TC2):c.2833A>G (p.Met945Val)
|
|
|
NM_024577.4(SH3TC2):c.2836G>T (p.Ala946Ser)
|
rs765951062
|
|
NM_024577.4(SH3TC2):c.283C>T (p.Leu95Phe)
|
rs541695222
|
|
NM_024577.4(SH3TC2):c.2853A>G (p.Leu951=)
|
|
|
NM_024577.4(SH3TC2):c.2856G>A (p.Arg952=)
|
|
|
NM_024577.4(SH3TC2):c.2859T>A (p.His953Gln)
|
|
|
NM_024577.4(SH3TC2):c.2864A>C (p.His955Pro)
|
rs1754073175
|
|
NM_024577.4(SH3TC2):c.2864A>T (p.His955Leu)
|
|
|
NM_024577.4(SH3TC2):c.2872+11C>T
|
|
|
NM_024577.4(SH3TC2):c.2872+14A>G
|
rs1374170282
|
|
NM_024577.4(SH3TC2):c.2872+4_2872+7del
|
rs1754073023
|
|
NM_024577.4(SH3TC2):c.2873-10T>A
|
rs1754070727
|
|
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn)
|
rs1205847384
|
|
NM_024577.4(SH3TC2):c.2884G>C (p.Ala962Pro)
|
|
|
NM_024577.4(SH3TC2):c.2887A>G (p.Thr963Ala)
|
|
|
NM_024577.4(SH3TC2):c.2888C>T (p.Thr963Ile)
|
|
|
NM_024577.4(SH3TC2):c.2897T>C (p.Leu966Pro)
|
rs1060501469
|
|
NM_024577.4(SH3TC2):c.289G>A (p.Ala97Thr)
|
rs562689036
|
|
NM_024577.4(SH3TC2):c.2904T>C (p.His968=)
|
rs2127396907
|
|
NM_024577.4(SH3TC2):c.2909A>G (p.Tyr970Cys)
|
|
|
NM_024577.4(SH3TC2):c.2910C>A (p.Tyr970Ter)
|
|
|
NM_024577.4(SH3TC2):c.2923C>G (p.Pro975Ala)
|
rs1554121529
|
|
NM_024577.4(SH3TC2):c.2935G>T (p.Ala979Ser)
|
rs369258246
|
|
NM_024577.4(SH3TC2):c.2942_2944dup (p.Ile981dup)
|
rs2127396888
|
|
NM_024577.4(SH3TC2):c.2957A>G (p.His986Arg)
|
rs1580899530
|
|
NM_024577.4(SH3TC2):c.295T>A (p.Leu99Met)
|
rs1561770787
|
|
NM_024577.4(SH3TC2):c.2965G>A (p.Ala989Thr)
|
|
|
NM_024577.4(SH3TC2):c.2981T>C (p.Leu994Pro)
|
rs2127396874
|
|
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs)
|
rs1174949678
|
|
NM_024577.4(SH3TC2):c.2991G>A (p.Arg997=)
|
|
|
NM_024577.4(SH3TC2):c.2995A>G (p.Met999Val)
|
|
|
NM_024577.4(SH3TC2):c.3006G>T (p.Arg1002Ser)
|
|
|
NM_024577.4(SH3TC2):c.3018C>T (p.Ser1006=)
|
|
|
NM_024577.4(SH3TC2):c.3023G>C (p.Gly1008Ala)
|
rs2127396858
|
|
NM_024577.4(SH3TC2):c.3028C>T (p.Leu1010Phe)
|
rs1243271992
|
|
NM_024577.4(SH3TC2):c.3040del (p.Asn1013_Leu1014insTer)
|
|
|
NM_024577.4(SH3TC2):c.304A>G (p.Ile102Val)
|
rs2127401449
|
|
NM_024577.4(SH3TC2):c.3053+11G>T
|
|
|
NM_024577.4(SH3TC2):c.3054-13T>C
|
|
|
NM_024577.4(SH3TC2):c.3054-2A>C
|
rs1580891465
|
|
NM_024577.4(SH3TC2):c.3054-2A>G
|
|
|
NM_024577.4(SH3TC2):c.3060C>T (p.Leu1020=)
|
|
|
NM_024577.4(SH3TC2):c.3078C>A (p.Cys1026Ter)
|
rs2127393407
|
|
NM_024577.4(SH3TC2):c.307C>T (p.Gln103Ter)
|
|
|
NM_024577.4(SH3TC2):c.308A>T (p.Gln103Leu)
|
|
|
NM_024577.4(SH3TC2):c.3093G>A (p.Leu1031=)
|
|
|
NM_024577.4(SH3TC2):c.3099C>G (p.Ile1033Met)
|
rs1554120576
|
|
NM_024577.4(SH3TC2):c.30G>T (p.Glu10Asp)
|
rs755666455
|
|
NM_024577.4(SH3TC2):c.3110T>A (p.Leu1037Gln)
|
rs1580891410
|
|
NM_024577.4(SH3TC2):c.3117G>C (p.Glu1039Asp)
|
|
|
NM_024577.4(SH3TC2):c.311C>G (p.Ser104Cys)
|
|
|
NM_024577.4(SH3TC2):c.3132T>C (p.Ala1044=)
|
|
|
NM_024577.4(SH3TC2):c.3141del (p.Trp1047fs)
|
|
|
NM_024577.4(SH3TC2):c.3146G>T (p.Gly1049Val)
|
rs2127393379
|
|
NM_024577.4(SH3TC2):c.3147G>A (p.Gly1049=)
|
|
|
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)
|
rs370115218
|
|
NM_024577.4(SH3TC2):c.3155G>A (p.Arg1052Gln)
|
|
|
NM_024577.4(SH3TC2):c.315G>C (p.Gln105His)
|
rs1754426829
|
|
NM_024577.4(SH3TC2):c.3175G>A (p.Glu1059Lys)
|
|
|
NM_024577.4(SH3TC2):c.3181G>A (p.Glu1061Lys)
|
rs760656119
|
|
NM_024577.4(SH3TC2):c.3183G>A (p.Glu1061=)
|
rs1237080220
|
|
NM_024577.4(SH3TC2):c.3204+16A>T
|
|
|
NM_024577.4(SH3TC2):c.3204+7C>A
|
|
|
NM_024577.4(SH3TC2):c.3205-20G>A
|
|
|
NM_024577.4(SH3TC2):c.3205-2A>G
|
rs2127392891
|
|
NM_024577.4(SH3TC2):c.3212T>C (p.Ile1071Thr)
|
|
|
NM_024577.4(SH3TC2):c.322_324del (p.Gln108del)
|
|
|
NM_024577.4(SH3TC2):c.3234G>A (p.Glu1078=)
|
|
|
NM_024577.4(SH3TC2):c.323A>G (p.Gln108Arg)
|
|
|
NM_024577.4(SH3TC2):c.3269C>G (p.Ala1090Gly)
|
|
|
NM_024577.4(SH3TC2):c.3277G>A (p.Val1093Met)
|
rs2127392867
|
|
NM_024577.4(SH3TC2):c.3291G>C (p.Gly1097=)
|
rs775530482
|
|
NM_024577.4(SH3TC2):c.3297C>T (p.Arg1099=)
|
|
|
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)
|
rs864622664
|
|
NM_024577.4(SH3TC2):c.3316G>A (p.Glu1106Lys)
|
|
|
NM_024577.4(SH3TC2):c.3318G>A (p.Glu1106=)
|
rs1412557262
|
|
NM_024577.4(SH3TC2):c.3321C>A (p.Tyr1107Ter)
|
rs1580889866
|
|
NM_024577.4(SH3TC2):c.3327+16G>A
|
|
|
NM_024577.4(SH3TC2):c.3327+1G>A
|
rs2127392839
|
|
NM_024577.4(SH3TC2):c.3327+6T>G
|
|
|
NM_024577.4(SH3TC2):c.3328-12T>A
|
|
|
NM_024577.4(SH3TC2):c.3328-1G>T
|
rs1554120331
|
|
NM_024577.4(SH3TC2):c.3328-7T>C
|
rs2127392520
|
|
NM_024577.4(SH3TC2):c.3328-9T>C
|
rs1753738303
|
|
NM_024577.4(SH3TC2):c.3362C>A (p.Ala1121Glu)
|
rs115577291
|
|
NM_024577.4(SH3TC2):c.3364G>A (p.Val1122Met)
|
rs1554120326
|
|
NM_024577.4(SH3TC2):c.3371C>T (p.Thr1124Ile)
|
rs752094727
|
|
NM_024577.4(SH3TC2):c.3372T>C (p.Thr1124=)
|
|
|
NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp)
|
rs1580888993
|
|
NM_024577.4(SH3TC2):c.3384T>A (p.Ile1128=)
|
|
|
NM_024577.4(SH3TC2):c.3386T>C (p.Phe1129Ser)
|
|
|
NM_024577.4(SH3TC2):c.3418G>A (p.Glu1140Lys)
|
|
|
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs)
|
rs1222150652
|
|
NM_024577.4(SH3TC2):c.3432G>A (p.Lys1144=)
|
rs1580888944
|
|
NM_024577.4(SH3TC2):c.3433G>C (p.Ala1145Pro)
|
rs141715248
|
|
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser)
|
rs141715248
|
|
NM_024577.4(SH3TC2):c.3438G>A (p.Leu1146=)
|
rs2127392467
|
|
NM_024577.4(SH3TC2):c.343A>C (p.Thr115Pro)
|
|
|
NM_024577.4(SH3TC2):c.3443T>C (p.Phe1148Ser)
|
rs1753736056
|
|
NM_024577.4(SH3TC2):c.3457G>A (p.Ala1153Thr)
|
rs778351829
|
|
NM_024577.4(SH3TC2):c.3478+14A>C
|
|
|
NM_024577.4(SH3TC2):c.3478+2T>G
|
rs2127392445
|
|
NM_024577.4(SH3TC2):c.3478+4G>A
|
|
|
NM_024577.4(SH3TC2):c.3479-8A>C
|
|
|
NM_024577.4(SH3TC2):c.3491A>T (p.Gln1164Leu)
|
|
|
NM_024577.4(SH3TC2):c.3500T>G (p.Val1167Gly)
|
rs2127392009
|
|
NM_024577.4(SH3TC2):c.3504C>A (p.Ala1168=)
|
rs757201330
|
|
NM_024577.4(SH3TC2):c.3504C>T (p.Ala1168=)
|
rs757201330
|
|
NM_024577.4(SH3TC2):c.3504_3518del (p.Phe1169_Ala1173del)
|
|
|
NM_024577.4(SH3TC2):c.3508_3516del (p.His1170_Leu1172del)
|
rs1753702797
|
|
NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His)
|
rs200728983
|
|
NM_024577.4(SH3TC2):c.3512G>C (p.Arg1171Pro)
|
rs200728983
|
|
NM_024577.4(SH3TC2):c.3534C>A (p.Ser1178=)
|
rs2127391999
|
|
NM_024577.4(SH3TC2):c.3535C>T (p.Leu1179=)
|
rs1031965152
|
|
NM_024577.4(SH3TC2):c.3543G>A (p.Met1181Ile)
|
|
|
NM_024577.4(SH3TC2):c.3589C>T (p.Pro1197Ser)
|
rs1343590454
|
|
NM_024577.4(SH3TC2):c.3592C>T (p.Pro1198Ser)
|
rs1561756981
|
|
NM_024577.4(SH3TC2):c.3593_3594inv (p.Pro1198Leu)
|
|
|
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=)
|
rs6871030
|
|
NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=)
|
rs6871030
|
|
NM_024577.4(SH3TC2):c.3602A>T (p.Gln1201Leu)
|
rs776962303
|
|
NM_024577.4(SH3TC2):c.3603G>A (p.Gln1201=)
|
|
|
NM_024577.4(SH3TC2):c.3607C>A (p.Pro1203Thr)
|
|
|
NM_024577.4(SH3TC2):c.3613G>A (p.Glu1205Lys)
|
rs926087682
|
|
NM_024577.4(SH3TC2):c.3617C>A (p.Ala1206Asp)
|
rs1753699992
|
|
NM_024577.4(SH3TC2):c.3621G>A (p.Leu1207=)
|
rs770300877
|
|
NM_024577.4(SH3TC2):c.362A>C (p.Lys121Thr)
|
rs1580912012
|
|
NM_024577.4(SH3TC2):c.362A>T (p.Lys121Met)
|
rs1580912012
|
|
NM_024577.4(SH3TC2):c.3634G>A (p.Val1212Met)
|
rs756174696
|
|
NM_024577.4(SH3TC2):c.3643C>T (p.Arg1215Cys)
|
rs267600481
|
|
NM_024577.4(SH3TC2):c.3650del (p.Gly1217fs)
|
rs369695480
|
|
NM_024577.4(SH3TC2):c.3651C>A (p.Gly1217=)
|
rs1753699032
|
|
NM_024577.4(SH3TC2):c.3667C>G (p.Gln1223Glu)
|
|
|
NM_024577.4(SH3TC2):c.3675+17C>G
|
|
|
NM_024577.4(SH3TC2):c.3676-11C>A
|
|
|
NM_024577.4(SH3TC2):c.3676-13A>G
|
rs1753660598
|
|
NM_024577.4(SH3TC2):c.3676-18C>T
|
|
|
NM_024577.4(SH3TC2):c.3676-1G>A
|
rs1306229414
|
|
NM_024577.4(SH3TC2):c.3676-8G>A
|
rs772823083
|
|
NM_024577.4(SH3TC2):c.367T>C (p.Ser123Pro)
|
|
|
NM_024577.4(SH3TC2):c.3684T>A (p.His1228Gln)
|
rs1753659994
|
|
NM_024577.4(SH3TC2):c.3688G>A (p.Ala1230Thr)
|
|
|
NM_024577.4(SH3TC2):c.369C>T (p.Ser123=)
|
|
|
NM_024577.4(SH3TC2):c.3720A>T (p.Ala1240=)
|
|
|
NM_024577.4(SH3TC2):c.3728T>C (p.Leu1243Pro)
|
|
|
NM_024577.4(SH3TC2):c.3729G>A (p.Leu1243=)
|
rs1335682517
|
|
NM_024577.4(SH3TC2):c.3762G>A (p.Arg1254=)
|
rs374376222
|
|
NM_024577.4(SH3TC2):c.3768G>A (p.Arg1256=)
|
|
|
NM_024577.4(SH3TC2):c.3768G>T (p.Arg1256Ser)
|
|
|
NM_024577.4(SH3TC2):c.3771G>A (p.Leu1257=)
|
rs1472880531
|
|
NM_024577.4(SH3TC2):c.3779T>G (p.Ile1260Ser)
|
rs1753657850
|
|
NM_024577.4(SH3TC2):c.3784C>G (p.Gln1262Glu)
|
|
|
NM_024577.4(SH3TC2):c.3789C>A (p.Ser1263Arg)
|
rs1210794926
|
|
NM_024577.4(SH3TC2):c.3790C>G (p.Pro1264Ala)
|
rs945895550
|
|
NM_024577.4(SH3TC2):c.3791C>G (p.Pro1264Arg)
|
rs1753657395
|
|
NM_024577.4(SH3TC2):c.3795G>A (p.Leu1265=)
|
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
NM_024577.4(SH3TC2):c.3805A>T (p.Arg1269Trp)
|
rs1753656892
|
|
NM_024577.4(SH3TC2):c.3806G>C (p.Arg1269Thr)
|
|
|
NM_024577.4(SH3TC2):c.3807G>A (p.Arg1269=)
|
|
|
NM_024577.4(SH3TC2):c.3807G>T (p.Arg1269Ser)
|
rs370090569
|
|
NM_024577.4(SH3TC2):c.3810C>T (p.Pro1270=)
|
rs2127391368
|
|
NM_024577.4(SH3TC2):c.3816G>T (p.Gly1272=)
|
rs1038817068
|
|
NM_024577.4(SH3TC2):c.3846T>C (p.Ser1282=)
|
|
|
NM_024577.4(SH3TC2):c.3846TGG[2] (p.Gly1285del)
|
rs1554120043
|
|
NM_024577.4(SH3TC2):c.3847G>T (p.Gly1283Cys)
|
rs370844006
|
|
NM_024577.4(SH3TC2):c.385+16A>G
|
|
|
NM_024577.4(SH3TC2):c.385+1G>T
|
rs2127401413
|
|
NM_024577.4(SH3TC2):c.385+2T>C
|
rs773554464
|
|
NM_024577.4(SH3TC2):c.385+4_385+8del
|
rs148930563
|
|
NM_024577.4(SH3TC2):c.385+9C>T
|
rs1561770736
|
|
NM_024577.4(SH3TC2):c.3851G>A (p.Gly1284Asp)
|
rs771840516
|
|
NM_024577.4(SH3TC2):c.386-10G>A
|
rs1580910938
|
|
NM_024577.4(SH3TC2):c.386-12T>C
|
rs370151955
|
|
NM_024577.4(SH3TC2):c.386-18G>A
|
|
|
NM_024577.4(SH3TC2):c.386-18G>T
|
|
|
NM_024577.4(SH3TC2):c.391G>A (p.Val131Ile)
|
|
|
NM_024577.4(SH3TC2):c.407A>G (p.Glu136Gly)
|
|
|
NM_024577.4(SH3TC2):c.412CTC[1] (p.Leu139del)
|
|
|
NM_024577.4(SH3TC2):c.414C>T (p.Leu138=)
|
rs2127400982
|
|
NM_024577.4(SH3TC2):c.425A>G (p.His142Arg)
|
rs1168407927
|
|
NM_024577.4(SH3TC2):c.42C>T (p.Thr14=)
|
rs2127406106
|
|
NM_024577.4(SH3TC2):c.437T>C (p.Leu146Pro)
|
rs2127400975
|
|
NM_024577.4(SH3TC2):c.438C>A (p.Leu146=)
|
rs976553031
|
|
NM_024577.4(SH3TC2):c.439A>G (p.Asn147Asp)
|
rs1423301895
|
|
NM_024577.4(SH3TC2):c.43C>T (p.Arg15Trp)
|
|
|
NM_024577.4(SH3TC2):c.440A>G (p.Asn147Ser)
|
|
|
NM_024577.4(SH3TC2):c.452T>C (p.Val151Ala)
|
rs779715536
|
|
NM_024577.4(SH3TC2):c.46G>A (p.Gly16Ser)
|
rs753975938
|
|
NM_024577.4(SH3TC2):c.483T>A (p.Asp161Glu)
|
rs768029461
|
|
NM_024577.4(SH3TC2):c.483T>C (p.Asp161=)
|
rs768029461
|
|
NM_024577.4(SH3TC2):c.48C>T (p.Gly16=)
|
rs1580924418
|
|
NM_024577.4(SH3TC2):c.493C>T (p.Leu165=)
|
|
|
NM_024577.4(SH3TC2):c.496G>T (p.Glu166Ter)
|
rs1554122847
|
|
NM_024577.4(SH3TC2):c.4G>A (p.Gly2Ser)
|
rs1554124107
|
|
NM_024577.4(SH3TC2):c.507C>T (p.Tyr169=)
|
rs1754392291
|
|
NM_024577.4(SH3TC2):c.508C>G (p.Leu170Val)
|
rs2127400948
|
|
NM_024577.4(SH3TC2):c.515T>C (p.Leu172Pro)
|
|
|
NM_024577.4(SH3TC2):c.515T>G (p.Leu172Arg)
|
rs1408319932
|
|
NM_024577.4(SH3TC2):c.52+11dup
|
rs2127406089
|
|
NM_024577.4(SH3TC2):c.524del (p.Gln175fs)
|
rs1561770179
|
|
NM_024577.4(SH3TC2):c.525G>A (p.Gln175=)
|
rs2127400937
|
|
NM_024577.4(SH3TC2):c.529+14del
|
|
|
NM_024577.4(SH3TC2):c.53-2A>G
|
rs2127403412
|
|
NM_024577.4(SH3TC2):c.53-4C>T
|
|
|
NM_024577.4(SH3TC2):c.53-5T>C
|
rs1186354032
|
|
NM_024577.4(SH3TC2):c.53-5_53-3del
|
|
|
NM_024577.4(SH3TC2):c.530G>A (p.Gly177Asp)
|
|
|
NM_024577.4(SH3TC2):c.535T>G (p.Phe179Val)
|
|
|
NM_024577.4(SH3TC2):c.536TCT[1] (p.Phe180del)
|
rs763476083
|
|
NM_024577.4(SH3TC2):c.538T>G (p.Phe180Val)
|
|
|
NM_024577.4(SH3TC2):c.550C>T (p.Leu184=)
|
rs1210183194
|
|
NM_024577.4(SH3TC2):c.558C>A (p.Ser186=)
|
rs141289653
|
|
NM_024577.4(SH3TC2):c.560T>C (p.Val187Ala)
|
rs1554122762
|
|
NM_024577.4(SH3TC2):c.561G>A (p.Val187=)
|
rs2127400689
|
|
NM_024577.4(SH3TC2):c.566C>T (p.Pro189Leu)
|
|
|
NM_024577.4(SH3TC2):c.571G>C (p.Ala191Pro)
|
rs2127400685
|
|
NM_024577.4(SH3TC2):c.573C>A (p.Ala191=)
|
|
|
NM_024577.4(SH3TC2):c.573C>T (p.Ala191=)
|
|
|
NM_024577.4(SH3TC2):c.581A>G (p.Glu194Gly)
|
|
|
NM_024577.4(SH3TC2):c.588A>T (p.Glu196Asp)
|
|
|
NM_024577.4(SH3TC2):c.591C>A (p.Cys197Ter)
|
|
|
NM_024577.4(SH3TC2):c.601T>G (p.Cys201Gly)
|
|
|
NM_024577.4(SH3TC2):c.602G>A (p.Cys201Tyr)
|
|
|
NM_024577.4(SH3TC2):c.603C>T (p.Cys201=)
|
rs760150466
|
|
NM_024577.4(SH3TC2):c.609T>G (p.Asn203Lys)
|
rs1754371704
|
|
NM_024577.4(SH3TC2):c.620C>G (p.Ser207Ter)
|
rs1754371447
|
|
NM_024577.4(SH3TC2):c.641G>A (p.Gly214Asp)
|
|
|
NM_024577.4(SH3TC2):c.643T>C (p.Ser215Pro)
|
|
|
NM_024577.4(SH3TC2):c.64C>G (p.Pro22Ala)
|
|
|
NM_024577.4(SH3TC2):c.650T>C (p.Leu217Ser)
|
|
|
NM_024577.4(SH3TC2):c.656G>A (p.Gly219Asp)
|
rs748374150
|
|
NM_024577.4(SH3TC2):c.656G>T (p.Gly219Val)
|
|
|
NM_024577.4(SH3TC2):c.657C>G (p.Gly219=)
|
|
|
NM_024577.4(SH3TC2):c.661T>C (p.Ser221Pro)
|
rs747024391
|
|
NM_024577.4(SH3TC2):c.676C>T (p.Gln226Ter)
|
rs2127400649
|
|
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp)
|
rs532463685
|
|
NM_024577.4(SH3TC2):c.682G>A (p.Gly228Ser)
|
rs751022040
|
|
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=)
|
rs1025939209
|
|
NM_024577.4(SH3TC2):c.696G>C (p.Val232=)
|
|
|
NM_024577.4(SH3TC2):c.720C>A (p.Leu240=)
|
|
|
NM_024577.4(SH3TC2):c.731+14T>C
|
|
|
NM_024577.4(SH3TC2):c.731+4A>G
|
|
|
NM_024577.4(SH3TC2):c.732-19C>A
|
|
|
NM_024577.4(SH3TC2):c.732-20C>A
|
|
|
NM_024577.4(SH3TC2):c.732-6T>C
|
rs1554122676
|
|
NM_024577.4(SH3TC2):c.734G>T (p.Trp245Leu)
|
rs751095271
|
|
NM_024577.4(SH3TC2):c.746A>G (p.Asn249Ser)
|
rs760971566
|
|
NM_024577.4(SH3TC2):c.753A>T (p.Pro251=)
|
rs2127400486
|
|
NM_024577.4(SH3TC2):c.758G>C (p.Ser253Thr)
|
rs2127400485
|
|
NM_024577.4(SH3TC2):c.766C>T (p.Leu256Phe)
|
|
|
NM_024577.4(SH3TC2):c.788C>A (p.Thr263Lys)
|
|
|
NM_024577.4(SH3TC2):c.790G>C (p.Gly264Arg)
|
|
|
NM_024577.4(SH3TC2):c.793T>A (p.Ser265Thr)
|
rs1580909284
|
|
NM_024577.4(SH3TC2):c.805+18A>T
|
|
|
NM_024577.4(SH3TC2):c.805+2T>C
|
rs139052887
|
|
NM_024577.4(SH3TC2):c.806-12T>C
|
|
|
NM_024577.4(SH3TC2):c.806-1G>A
|
rs1554122560
|
|
NM_024577.4(SH3TC2):c.819T>C (p.Cys273=)
|
rs2127400023
|
|
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter)
|
rs1754320158
|
|
NM_024577.4(SH3TC2):c.822G>A (p.Lys274=)
|
|
|
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)
|
rs1754319130
|
|
NM_024577.4(SH3TC2):c.826T>A (p.Leu276Met)
|
rs1580908028
|
|
NM_024577.4(SH3TC2):c.828G>C (p.Leu276Phe)
|
rs1754319874
|
|
NM_024577.4(SH3TC2):c.832G>A (p.Gly278Ser)
|
rs1204913371
|
|
NM_024577.4(SH3TC2):c.833G>T (p.Gly278Val)
|
rs757292503
|
|
NM_024577.4(SH3TC2):c.841C>A (p.Pro281Thr)
|
|
|
NM_024577.4(SH3TC2):c.849A>G (p.Glu283=)
|
rs2127400009
|
|
NM_024577.4(SH3TC2):c.852G>C (p.Lys284Asn)
|
|
|
NM_024577.4(SH3TC2):c.854A>G (p.Asp285Gly)
|
rs763037689
|
|
NM_024577.4(SH3TC2):c.856G>A (p.Glu286Lys)
|
rs2127400005
|
|
NM_024577.4(SH3TC2):c.895G>A (p.Gly299Ser)
|
rs1233598157
|
|
NM_024577.4(SH3TC2):c.896G>C (p.Gly299Ala)
|
rs1222332332
|
|
NM_024577.4(SH3TC2):c.8G>A (p.Gly3Asp)
|
rs1465198831
|
|
NM_024577.4(SH3TC2):c.902T>C (p.Val301Ala)
|
rs1754317882
|
|
NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg)
|
rs1754317705
|
|
NM_024577.4(SH3TC2):c.912G>A (p.Gly304=)
|
rs757204346
|
|
NM_024577.4(SH3TC2):c.912G>C (p.Gly304=)
|
|
|
NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter)
|
rs80338921
|
|
NM_024577.4(SH3TC2):c.926T>C (p.Ile309Thr)
|
rs1754317366
|
|
NM_024577.4(SH3TC2):c.947G>A (p.Gly316Glu)
|
rs1251082752
|
|
NM_024577.4(SH3TC2):c.96T>C (p.Cys32=)
|
|
|
NM_024577.4(SH3TC2):c.96_99dup (p.Ala34fs)
|
|
|
NM_024577.4(SH3TC2):c.977T>C (p.Ile326Thr)
|
rs1754316407
|
|
NM_024577.4(SH3TC2):c.995C>A (p.Ser332Tyr)
|
|
|
NM_030962.3(SBF2):c.1929+15398_2137del
|
|
|
NM_030962.4(SBF2):c.1002A>C (p.Ala334=)
|
|
|
NM_030962.4(SBF2):c.1002A>G (p.Ala334=)
|
|
|
NM_030962.4(SBF2):c.1016C>T (p.Pro339Leu)
|
|
|
NM_030962.4(SBF2):c.1017T>C (p.Pro339=)
|
|
|
NM_030962.4(SBF2):c.1028C>T (p.Thr343Ile)
|
|
|
NM_030962.4(SBF2):c.1045A>G (p.Lys349Glu)
|
rs746685729
|
|
NM_030962.4(SBF2):c.1053+11del
|
rs1238757806
|
|
NM_030962.4(SBF2):c.1054-13C>T
|
|
|
NM_030962.4(SBF2):c.1054-15_1054-2del
|
|
|
NM_030962.4(SBF2):c.1065G>A (p.Val355=)
|
rs2134472414
|
|
NM_030962.4(SBF2):c.109G>A (p.Asp37Asn)
|
rs759977048
|
|
NM_030962.4(SBF2):c.1102C>G (p.Gln368Glu)
|
rs2134472163
|
|
NM_030962.4(SBF2):c.1107A>G (p.Gly369=)
|
|
|
NM_030962.4(SBF2):c.1112G>C (p.Arg371Thr)
|
|
|
NM_030962.4(SBF2):c.1130T>G (p.Ile377Arg)
|
rs371432409
|
|
NM_030962.4(SBF2):c.1167+4A>G
|
rs1240919799
|
|
NM_030962.4(SBF2):c.1167+7T>C
|
|
|
NM_030962.4(SBF2):c.1168-13del
|
|
|
NM_030962.4(SBF2):c.116C>T (p.Thr39Ile)
|
rs1957273770
|
|
NM_030962.4(SBF2):c.1183C>A (p.Gln395Lys)
|
rs1590699984
|
|
NM_030962.4(SBF2):c.1189G>T (p.Gly397Cys)
|
rs2134469917
|
|
NM_030962.4(SBF2):c.1197C>T (p.Val399=)
|
|
|
NM_030962.4(SBF2):c.1214C>G (p.Thr405Ser)
|
rs2134469840
|
|
NM_030962.4(SBF2):c.1216A>G (p.Lys406Glu)
|
rs760704483
|
|
NM_030962.4(SBF2):c.1222C>G (p.Leu408Val)
|
rs1220835376
|
|
NM_030962.4(SBF2):c.1240G>A (p.Ala414Thr)
|
rs1947481086
|
|
NM_030962.4(SBF2):c.1273A>C (p.Arg425=)
|
rs1554976504
|
|
NM_030962.4(SBF2):c.1297-10T>C
|
rs1249564766
|
|
NM_030962.4(SBF2):c.1297-2A>G
|
rs752649372
|
|
NM_030962.4(SBF2):c.1297-6T>C
|
rs1554975593
|
|
NM_030962.4(SBF2):c.1308T>G (p.Phe436Leu)
|
rs2134459399
|
|
NM_030962.4(SBF2):c.1333G>A (p.Glu445Lys)
|
rs1565100821
|
|
NM_030962.4(SBF2):c.1338T>C (p.Asn446=)
|
|
|
NM_030962.4(SBF2):c.1351A>G (p.Met451Val)
|
|
|
NM_030962.4(SBF2):c.1395+8_1395+11del
|
rs763174480
|
|
NM_030962.4(SBF2):c.1396-3C>G
|
rs375346684
|
|
NM_030962.4(SBF2):c.1396-8T>C
|
|
|
NM_030962.4(SBF2):c.1396-9A>G
|
rs548520529
|
|
NM_030962.4(SBF2):c.1399A>G (p.Asn467Asp)
|
|
|
NM_030962.4(SBF2):c.141+11G>T
|
rs774519680
|
|
NM_030962.4(SBF2):c.1411C>A (p.His471Asn)
|
|
|
NM_030962.4(SBF2):c.1412A>T (p.His471Leu)
|
rs763176916
|
|
NM_030962.4(SBF2):c.1413T>A (p.His471Gln)
|
rs769911496
|
|
NM_030962.4(SBF2):c.1414A>G (p.Met472Val)
|
rs1590636623
|
|
NM_030962.4(SBF2):c.142-10T>C
|
|
|
NM_030962.4(SBF2):c.142-14del
|
|
|
NM_030962.4(SBF2):c.142-14dup
|
rs530695547
|
|
NM_030962.4(SBF2):c.142-6A>G
|
rs1241730559
|
|
NM_030962.4(SBF2):c.1434A>G (p.Pro478=)
|
rs946519735
|
|
NM_030962.4(SBF2):c.1440A>G (p.Pro480=)
|
|
|
NM_030962.4(SBF2):c.1441A>G (p.Thr481Ala)
|
|
|
NM_030962.4(SBF2):c.1442C>G (p.Thr481Arg)
|
rs2134388086
|
|
NM_030962.4(SBF2):c.1443A>G (p.Thr481=)
|
|
|
NM_030962.4(SBF2):c.1449A>C (p.Gly483=)
|
|
|
NM_030962.4(SBF2):c.144T>A (p.Phe48Leu)
|
|
|
NM_030962.4(SBF2):c.1459C>A (p.Arg487=)
|
rs120074139
|
|
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)
|
rs120074139
|
|
NM_030962.4(SBF2):c.1491T>C (p.Asn497=)
|
rs767806871
|
|
NM_030962.4(SBF2):c.1498C>A (p.Arg500=)
|
|
|
NM_030962.4(SBF2):c.1515A>T (p.Ile505=)
|
|
|
NM_030962.4(SBF2):c.1516del (p.Gln506fs)
|
|
|
NM_030962.4(SBF2):c.1517A>C (p.Gln506Pro)
|
rs2134387742
|
|
NM_030962.4(SBF2):c.1520A>G (p.Glu507Gly)
|
|
|
NM_030962.4(SBF2):c.1527T>A (p.Val509=)
|
|
|
NM_030962.4(SBF2):c.1536C>T (p.Asn512=)
|
|
|
NM_030962.4(SBF2):c.1537C>G (p.Gln513Glu)
|
|
|
NM_030962.4(SBF2):c.1546C>G (p.Pro516Ala)
|
|
|
NM_030962.4(SBF2):c.1553C>A (p.Ala518Asp)
|
rs1474146157
|
|
NM_030962.4(SBF2):c.1555A>G (p.Thr519Ala)
|
rs2134387621
|
|
NM_030962.4(SBF2):c.156C>A (p.Gly52=)
|
|
|
NM_030962.4(SBF2):c.156C>T (p.Gly52=)
|
rs779676883
|
|
NM_030962.4(SBF2):c.1571A>C (p.Lys524Thr)
|
rs1207040016
|
|
NM_030962.4(SBF2):c.1578T>G (p.Val526=)
|
|
|
NM_030962.4(SBF2):c.157G>A (p.Gly53Arg)
|
|
|
NM_030962.4(SBF2):c.1580T>C (p.Val527Ala)
|
rs1867103004
|
|
NM_030962.4(SBF2):c.1600+17_1600+20del
|
|
|
NM_030962.4(SBF2):c.1600G>C (p.Val534Leu)
|
rs1590635892
|
|
NM_030962.4(SBF2):c.1601-10C>A
|
rs761998992
|
|
NM_030962.4(SBF2):c.1601-13A>G
|
|
|
NM_030962.4(SBF2):c.1601-3T>G
|
rs2134369689
|
|
NM_030962.4(SBF2):c.1601-8T>G
|
|
|
NM_030962.4(SBF2):c.1601-8_1601-6del
|
rs2134369709
|
|
NM_030962.4(SBF2):c.1615A>G (p.Lys539Glu)
|
rs775279773
|
|
NM_030962.4(SBF2):c.1618G>T (p.Val540Leu)
|
rs201806063
|
|
NM_030962.4(SBF2):c.1622C>T (p.Thr541Met)
|
rs372109447
|
|
NM_030962.4(SBF2):c.1626A>G (p.Thr542=)
|
|
|
NM_030962.4(SBF2):c.1632C>A (p.Phe544Leu)
|
rs777289065
|
|
NM_030962.4(SBF2):c.1636A>T (p.Ser546Cys)
|
rs2134369489
|
|
NM_030962.4(SBF2):c.1652_1653inv (p.Glu551Val)
|
|
|
NM_030962.4(SBF2):c.1654G>A (p.Val552Ile)
|
|
|
NM_030962.4(SBF2):c.165G>T (p.Gln55His)
|
|
|
NM_030962.4(SBF2):c.1661G>A (p.Arg554Lys)
|
rs1161860280
|
|
NM_030962.4(SBF2):c.1675T>G (p.Phe559Val)
|
|
|
NM_030962.4(SBF2):c.1675_1677inv (p.Phe559Glu)
|
|
|
NM_030962.4(SBF2):c.167T>C (p.Leu56Pro)
|
|
|
NM_030962.4(SBF2):c.1710+15_1710+28del
|
rs2134369196
|
|
NM_030962.4(SBF2):c.1711-15C>G
|
|
|
NM_030962.4(SBF2):c.1711-5C>A
|
rs770969528
|
|
NM_030962.4(SBF2):c.1711-8G>T
|
rs1590619062
|
|
NM_030962.4(SBF2):c.1722T>A (p.Ala574=)
|
|
|
NM_030962.4(SBF2):c.1758G>C (p.Gln586His)
|
|
|
NM_030962.4(SBF2):c.1768G>A (p.Asp590Asn)
|
rs1565064376
|
|
NM_030962.4(SBF2):c.1818A>G (p.Gln606=)
|
|
|
NM_030962.4(SBF2):c.181A>G (p.Lys61Glu)
|
rs549233218
|
|
NM_030962.4(SBF2):c.1822T>G (p.Phe608Val)
|
rs2134363226
|
|
NM_030962.4(SBF2):c.1831A>T (p.Ile611Leu)
|
rs964428805
|
|
NM_030962.4(SBF2):c.1834A>G (p.Ile612Val)
|
|
|
NM_030962.4(SBF2):c.1837A>G (p.Arg613Gly)
|
|
|
NM_030962.4(SBF2):c.1860+10A>G
|
rs778305149
|
|
NM_030962.4(SBF2):c.1860+15T>C
|
|
|
NM_030962.4(SBF2):c.1861-9T>C
|
rs2134134508
|
|
NM_030962.4(SBF2):c.1862A>G (p.Asp621Gly)
|
rs765204789
|
|
NM_030962.4(SBF2):c.187C>T (p.Pro63Ser)
|
|
|
NM_030962.4(SBF2):c.1892C>A (p.Ala631Asp)
|
rs376057124
|
|
NM_030962.4(SBF2):c.1893C>G (p.Ala631=)
|
rs760154688
|
|
NM_030962.4(SBF2):c.1906C>A (p.Pro636Thr)
|
|
|
NM_030962.4(SBF2):c.1911G>C (p.Leu637Phe)
|
rs1373091395
|
|
NM_030962.4(SBF2):c.1925A>G (p.Tyr642Cys)
|
|
|
NM_030962.4(SBF2):c.1928G>A (p.Arg643Lys)
|
|
|
NM_030962.4(SBF2):c.1929+13G>C
|
|
|
NM_030962.4(SBF2):c.1929+4A>C
|
|
|
NM_030962.4(SBF2):c.1929+4A>G
|
|
|
NM_030962.4(SBF2):c.192_193dup (p.Phe65fs)
|
rs1949709115
|
|
NM_030962.4(SBF2):c.1930-10G>A
|
rs765561519
|
|
NM_030962.4(SBF2):c.1930-10G>T
|
rs765561519
|
|
NM_030962.4(SBF2):c.1930-6T>G
|
|
|
NM_030962.4(SBF2):c.1930-9T>C
|
|
|
NM_030962.4(SBF2):c.1930-9T>G
|
rs1857476118
|
|
NM_030962.4(SBF2):c.1931A>C (p.Lys644Thr)
|
rs1857475272
|
|
NM_030962.4(SBF2):c.1951C>T (p.Gln651Ter)
|
rs1564923441
|
|
NM_030962.4(SBF2):c.1953G>C (p.Gln651His)
|
rs2134007186
|
|
NM_030962.4(SBF2):c.1958C>T (p.Ala653Val)
|
rs2134007178
|
|
NM_030962.4(SBF2):c.195C>G (p.Phe65Leu)
|
rs1949709027
|
|
NM_030962.4(SBF2):c.1997A>G (p.Gln666Arg)
|
rs2134006965
|
|
NM_030962.4(SBF2):c.2010G>A (p.Glu670=)
|
|
|
NM_030962.4(SBF2):c.2016C>G (p.Thr672=)
|
|
|
NM_030962.4(SBF2):c.2023A>C (p.Asn675His)
|
|
|
NM_030962.4(SBF2):c.2031G>A (p.Val677=)
|
|
|
NM_030962.4(SBF2):c.2041G>A (p.Val681Ile)
|
|
|
NM_030962.4(SBF2):c.2058C>G (p.Leu686=)
|
|
|
NM_030962.4(SBF2):c.2058C>T (p.Leu686=)
|
rs895655461
|
|
NM_030962.4(SBF2):c.2079T>C (p.His693=)
|
|
|
NM_030962.4(SBF2):c.2083C>G (p.Pro695Ala)
|
|
|
NM_030962.4(SBF2):c.2100+17_2100+19dup
|
rs751432798
|
|
NM_030962.4(SBF2):c.2101-14G>T
|
|
|
NM_030962.4(SBF2):c.2102A>G (p.Asp701Gly)
|
rs1590235062
|
|
NM_030962.4(SBF2):c.2112T>A (p.Pro704=)
|
rs1857340727
|
|
NM_030962.4(SBF2):c.2128_2130del (p.Glu710del)
|
|
|
NM_030962.4(SBF2):c.2140A>G (p.Met714Val)
|
|
|
NM_030962.4(SBF2):c.2149G>A (p.Ala717Thr)
|
|
|
NM_030962.4(SBF2):c.2150C>T (p.Ala717Val)
|
rs1857337701
|
|
NM_030962.4(SBF2):c.215A>C (p.Asp72Ala)
|
rs1060500000
|
|
NM_030962.4(SBF2):c.2161C>T (p.Leu721=)
|
rs2134001499
|
|
NM_030962.4(SBF2):c.2178C>A (p.Thr726=)
|
rs1590234812
|
|
NM_030962.4(SBF2):c.2203C>G (p.Leu735Val)
|
|
|
NM_030962.4(SBF2):c.2205A>G (p.Leu735=)
|
|
|
NM_030962.4(SBF2):c.2206G>A (p.Val736Met)
|
|
|
NM_030962.4(SBF2):c.2220A>G (p.Glu740=)
|
|
|
NM_030962.4(SBF2):c.2244T>C (p.Ile748=)
|
|
|
NM_030962.4(SBF2):c.2257C>T (p.Leu753Phe)
|
rs1857329536
|
|
NM_030962.4(SBF2):c.2260A>T (p.Met754Leu)
|
rs745452169
|
|
NM_030962.4(SBF2):c.2287dup (p.Thr763fs)
|
|
|
NM_030962.4(SBF2):c.2289A>G (p.Thr763=)
|
|
|
NM_030962.4(SBF2):c.2293A>G (p.Lys765Glu)
|
|
|
NM_030962.4(SBF2):c.2325T>C (p.Gly775=)
|
|
|
NM_030962.4(SBF2):c.2325T>G (p.Gly775=)
|
rs2134000781
|
|
NM_030962.4(SBF2):c.2329T>G (p.Trp777Gly)
|
rs1321841784
|
|
NM_030962.4(SBF2):c.2358A>C (p.Thr786=)
|
|
|
NM_030962.4(SBF2):c.2363+11G>A
|
rs2134000617
|
|
NM_030962.4(SBF2):c.2363+15A>G
|
|
|
NM_030962.4(SBF2):c.2363+20C>A
|
|
|
NM_030962.4(SBF2):c.2364-7G>T
|
|
|
NM_030962.4(SBF2):c.2381C>T (p.Ala794Val)
|
rs1857121933
|
|
NM_030962.4(SBF2):c.2445T>C (p.Val815=)
|
|
|
NM_030962.4(SBF2):c.2448G>A (p.Val816=)
|
|
|
NM_030962.4(SBF2):c.246C>T (p.Cys82=)
|
|
|
NM_030962.4(SBF2):c.2472C>T (p.Asp824=)
|
|
|
NM_030962.4(SBF2):c.2482A>G (p.Thr828Ala)
|
|
|
NM_030962.4(SBF2):c.2492G>C (p.Gly831Ala)
|
|
|
NM_030962.4(SBF2):c.2499T>G (p.Thr833=)
|
rs1236236536
|
|
NM_030962.4(SBF2):c.2513A>G (p.Lys838Arg)
|
|
|
NM_030962.4(SBF2):c.2531T>A (p.Ile844Lys)
|
|
|
NM_030962.4(SBF2):c.2536+14A>G
|
|
|
NM_030962.4(SBF2):c.2536+18A>C
|
|
|
NM_030962.4(SBF2):c.2536+1G>A
|
rs1060500001
|
|
NM_030962.4(SBF2):c.2537-10C>G
|
|
|
NM_030962.4(SBF2):c.2537-11A>G
|
|
|
NM_030962.4(SBF2):c.2537-4del
|
rs1252682513
|
|
NM_030962.4(SBF2):c.2574A>G (p.Val858=)
|
|
|
NM_030962.4(SBF2):c.2578C>A (p.Arg860=)
|
rs764814296
|
|
NM_030962.4(SBF2):c.257A>T (p.Tyr86Phe)
|
rs745669920
|
|
NM_030962.4(SBF2):c.2596C>A (p.Pro866Thr)
|
rs1228676321
|
|
NM_030962.4(SBF2):c.2599C>T (p.Pro867Ser)
|
rs1857042661
|
|
NM_030962.4(SBF2):c.2601T>C (p.Pro867=)
|
|
|
NM_030962.4(SBF2):c.2610+10G>A
|
|
|
NM_030962.4(SBF2):c.2610+12C>T
|
|
|
NM_030962.4(SBF2):c.2610+16A>G
|
|
|
NM_030962.4(SBF2):c.2610+19C>T
|
|
|
NM_030962.4(SBF2):c.2610G>A (p.Lys870=)
|
|
|
NM_030962.4(SBF2):c.2611-16C>A
|
|
|
NM_030962.4(SBF2):c.2611-18A>C
|
|
|
NM_030962.4(SBF2):c.2611-18A>T
|
|
|
NM_030962.4(SBF2):c.2611-35AATC[3]
|
|
|
NM_030962.4(SBF2):c.2611-35AATC[4]
|
rs202029370
|
|
NM_030962.4(SBF2):c.2611-35AATC[6]
|
rs202029370
|
|
NM_030962.4(SBF2):c.2611-5G>A
|
|
|
NM_030962.4(SBF2):c.2611-5G>T
|
rs1590218785
|
|
NM_030962.4(SBF2):c.2611-9T>C
|
|
|
NM_030962.4(SBF2):c.2612C>G (p.Pro871Arg)
|
rs1856823248
|
|
NM_030962.4(SBF2):c.2627C>G (p.Pro876Arg)
|
rs912881512
|
|
NM_030962.4(SBF2):c.2653G>T (p.Val885Phe)
|
rs1856820562
|
|
NM_030962.4(SBF2):c.2655_2658del (p.Cys886fs)
|
|
|
NM_030962.4(SBF2):c.2663G>T (p.Gly888Val)
|
rs777117399
|
|
NM_030962.4(SBF2):c.267G>T (p.Glu89Asp)
|
rs1565165888
|
|
NM_030962.4(SBF2):c.2685T>C (p.Pro895=)
|
rs1409235455
|
|
NM_030962.4(SBF2):c.2689G>A (p.Gly897Arg)
|
rs1554924568
|
|
NM_030962.4(SBF2):c.2709A>C (p.Gly903=)
|
rs140152705
|
|
NM_030962.4(SBF2):c.2710G>T (p.Gly904Cys)
|
rs1856816602
|
|
NM_030962.4(SBF2):c.2717T>C (p.Leu906Pro)
|
rs1856816042
|
|
NM_030962.4(SBF2):c.2722G>A (p.Gly908Ser)
|
rs1856815904
|
|
NM_030962.4(SBF2):c.272A>C (p.Asn91Thr)
|
rs1206056257
|
|
NM_030962.4(SBF2):c.2742A>G (p.Ala914=)
|
rs2133981778
|
|
NM_030962.4(SBF2):c.2743G>A (p.Glu915Lys)
|
|
|
NM_030962.4(SBF2):c.2743G>C (p.Glu915Gln)
|
|
|
NM_030962.4(SBF2):c.2783G>T (p.Arg928Ile)
|
|
|
NM_030962.4(SBF2):c.2789C>A (p.Thr930Lys)
|
rs755578344
|
|
NM_030962.4(SBF2):c.279+15A>G
|
|
|
NM_030962.4(SBF2):c.279+17T>C
|
|
|
NM_030962.4(SBF2):c.279+4C>A
|
rs757128114
|
|
NM_030962.4(SBF2):c.2795A>G (p.His932Arg)
|
rs1554924467
|
|
NM_030962.4(SBF2):c.2798A>G (p.Asp933Gly)
|
|
|
NM_030962.4(SBF2):c.280-17A>C
|
rs777674707
|
|
NM_030962.4(SBF2):c.280-17A>G
|
|
|
NM_030962.4(SBF2):c.280-6_280-5del
|
|
|
NM_030962.4(SBF2):c.2806+18A>G
|
|
|
NM_030962.4(SBF2):c.2806+8T>G
|
|
|
NM_030962.4(SBF2):c.2807-11T>G
|
|
|
NM_030962.4(SBF2):c.2813A>G (p.Glu938Gly)
|
|
|
NM_030962.4(SBF2):c.2827C>T (p.Arg943Trp)
|
rs1324654662
|
|
NM_030962.4(SBF2):c.2838C>T (p.Pro946=)
|
|
|
NM_030962.4(SBF2):c.2839A>G (p.Ile947Val)
|
|
|
NM_030962.4(SBF2):c.2844C>G (p.Ala948=)
|
rs762600096
|
|
NM_030962.4(SBF2):c.2844C>T (p.Ala948=)
|
rs762600096
|
|
NM_030962.4(SBF2):c.2848A>C (p.Ile950Leu)
|
|
|
NM_030962.4(SBF2):c.2850_2851insGCCT (p.Thr951fs)
|
|
|
NM_030962.4(SBF2):c.2863A>G (p.Lys955Glu)
|
rs1856598871
|
|
NM_030962.4(SBF2):c.2867T>C (p.Ile956Thr)
|
rs2133973910
|
|
NM_030962.4(SBF2):c.2886A>C (p.Leu962=)
|
|
|
NM_030962.4(SBF2):c.2894A>G (p.Asn965Ser)
|
rs1008248276
|
|
NM_030962.4(SBF2):c.2897_2898delinsAT (p.Met966Asn)
|
rs2133973790
|
|
NM_030962.4(SBF2):c.2904A>G (p.Glu968=)
|
|
|
NM_030962.4(SBF2):c.2907A>G (p.Gly969=)
|
rs1057523299
|
|
NM_030962.4(SBF2):c.2908C>T (p.Leu970=)
|
rs1370817659
|
|
NM_030962.4(SBF2):c.2927C>T (p.Ser976Phe)
|
rs1564909729
|
|
NM_030962.4(SBF2):c.2934+11dup
|
|
|
NM_030962.4(SBF2):c.2934+15A>G
|
rs1461263560
|
|
NM_030962.4(SBF2):c.2934+16G>A
|
|
|
NM_030962.4(SBF2):c.2934+17C>G
|
|
|
NM_030962.4(SBF2):c.2934+18del
|
rs751526911
|
|
NM_030962.4(SBF2):c.2935-12T>C
|
|
|
NM_030962.4(SBF2):c.2935-15C>T
|
|
|
NM_030962.4(SBF2):c.293A>G (p.Glu98Gly)
|
|
|
NM_030962.4(SBF2):c.2941A>G (p.Lys981Glu)
|
|
|
NM_030962.4(SBF2):c.2948C>A (p.Ala983Glu)
|
|
|
NM_030962.4(SBF2):c.2975TAG[1] (p.Val993del)
|
|
|
NM_030962.4(SBF2):c.3000G>A (p.Leu1000=)
|
rs1564908294
|
|
NM_030962.4(SBF2):c.3001A>T (p.Met1001Leu)
|
rs781742897
|
|
NM_030962.4(SBF2):c.3010C>T (p.Arg1004Cys)
|
rs1008990516
|
|
NM_030962.4(SBF2):c.3015T>C (p.Tyr1005=)
|
rs1554922354
|
|
NM_030962.4(SBF2):c.3016C>T (p.Pro1006Ser)
|
rs886048781
|
|
NM_030962.4(SBF2):c.3021G>A (p.Gln1007=)
|
|
|
NM_030962.4(SBF2):c.3030C>T (p.Phe1010=)
|
rs2133969868
|
|
NM_030962.4(SBF2):c.3033T>C (p.Ser1011=)
|
|
|
NM_030962.4(SBF2):c.3057A>G (p.Gln1019=)
|
|
|
NM_030962.4(SBF2):c.305G>T (p.Gly102Val)
|
|
|
NM_030962.4(SBF2):c.3084A>C (p.Lys1028Asn)
|
|
|
NM_030962.4(SBF2):c.3087G>T (p.Gln1029His)
|
|
|
NM_030962.4(SBF2):c.3093A>G (p.Glu1031=)
|
|
|
NM_030962.4(SBF2):c.3098A>G (p.Asn1033Ser)
|
rs1856485648
|
|
NM_030962.4(SBF2):c.3099C>T (p.Asn1033=)
|
rs139437755
|
|
NM_030962.4(SBF2):c.3104C>A (p.Ser1035Tyr)
|
rs1856484914
|
|
NM_030962.4(SBF2):c.3110+10_3110+13del
|
|
|
NM_030962.4(SBF2):c.3110+14C>A
|
|
|
NM_030962.4(SBF2):c.3110+2_3110+4delinsGAG
|
rs1856483925
|
|
NM_030962.4(SBF2):c.3110+4A>G
|
|
|
NM_030962.4(SBF2):c.3110G>C (p.Arg1037Pro)
|
rs748477865
|
|
NM_030962.4(SBF2):c.3111-11A>C
|
|
|
NM_030962.4(SBF2):c.3111-3T>C
|
rs2133961719
|
|
NM_030962.4(SBF2):c.3111-7C>G
|
rs1856254310
|
|
NM_030962.4(SBF2):c.3111-7C>T
|
|
|
NM_030962.4(SBF2):c.3115T>G (p.Phe1039Val)
|
|
|
NM_030962.4(SBF2):c.3125C>T (p.Thr1042Ile)
|
rs1856252791
|
|
NM_030962.4(SBF2):c.3135A>G (p.Lys1045=)
|
rs1554920965
|
|
NM_030962.4(SBF2):c.313A>G (p.Lys105Glu)
|
rs139730490
|
|
NM_030962.4(SBF2):c.3142A>G (p.Lys1048Glu)
|
|
|
NM_030962.4(SBF2):c.3153G>A (p.Gly1051=)
|
|
|
NM_030962.4(SBF2):c.3167G>C (p.Gly1056Ala)
|
|
|
NM_030962.4(SBF2):c.3194C>T (p.Thr1065Ile)
|
rs2133961495
|
|
NM_030962.4(SBF2):c.3198G>T (p.Gly1066=)
|
rs150130142
|
|
NM_030962.4(SBF2):c.3200C>A (p.Thr1067Lys)
|
|
|
NM_030962.4(SBF2):c.3214A>G (p.Arg1072Gly)
|
|
|
NM_030962.4(SBF2):c.3226C>G (p.Pro1076Ala)
|
|
|
NM_030962.4(SBF2):c.3229G>A (p.Gly1077Arg)
|
rs761048786
|
|
NM_030962.4(SBF2):c.3231A>G (p.Gly1077=)
|
rs199985349
|
|
NM_030962.4(SBF2):c.3250G>A (p.Val1084Ile)
|
rs1331366931
|
|
NM_030962.4(SBF2):c.3256+12C>T
|
|
|
NM_030962.4(SBF2):c.3256+8A>C
|
rs1856241835
|
|
NM_030962.4(SBF2):c.3257-10A>G
|
rs1348371983
|
|
NM_030962.4(SBF2):c.3257-16_3257-15del
|
|
|
NM_030962.4(SBF2):c.3257-18C>G
|
|
|
NM_030962.4(SBF2):c.3257-1G>A
|
|
|
NM_030962.4(SBF2):c.3257-69_3282del
|
rs1855973417
|
|
NM_030962.4(SBF2):c.3257-8C>A
|
rs1855976609
|
|
NM_030962.4(SBF2):c.3257-9C>T
|
|
|
NM_030962.4(SBF2):c.3261A>C (p.Ser1087=)
|
|
|
NM_030962.4(SBF2):c.3278C>G (p.Pro1093Arg)
|
rs762973514
|
|
NM_030962.4(SBF2):c.3279C>T (p.Pro1093=)
|
|
|
NM_030962.4(SBF2):c.3288C>T (p.Thr1096=)
|
rs2942403
|
|
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val)
|
rs117957652
|
|
NM_030962.4(SBF2):c.3292C>T (p.Leu1098=)
|
rs117957652
|
|
NM_030962.4(SBF2):c.3298G>A (p.Ala1100Thr)
|
rs1855971560
|
|
NM_030962.4(SBF2):c.331C>T (p.Gln111Ter)
|
|
|
NM_030962.4(SBF2):c.3322C>G (p.Gln1108Glu)
|
rs1855969532
|
|
NM_030962.4(SBF2):c.3329T>C (p.Val1110Ala)
|
|
|
NM_030962.4(SBF2):c.332A>C (p.Gln111Pro)
|
rs1949239187
|
|
NM_030962.4(SBF2):c.3336del (p.Ala1113fs)
|
|
|
NM_030962.4(SBF2):c.3340T>G (p.Cys1114Gly)
|
|
|
NM_030962.4(SBF2):c.3357G>A (p.Gln1119=)
|
|
|
NM_030962.4(SBF2):c.3376A>G (p.Ile1126Val)
|
rs747669195
|
|
NM_030962.4(SBF2):c.3379A>T (p.Ser1127Cys)
|
rs1167884517
|
|
NM_030962.4(SBF2):c.3382G>A (p.Gly1128Ser)
|
rs1474699941
|
|
NM_030962.4(SBF2):c.3392C>A (p.Ser1131Tyr)
|
|
|
NM_030962.4(SBF2):c.3395G>A (p.Arg1132His)
|
|
|
NM_030962.4(SBF2):c.3428C>T (p.Ser1143Phe)
|
rs2133952172
|
|
NM_030962.4(SBF2):c.344T>G (p.Val115Gly)
|
|
|
NM_030962.4(SBF2):c.3450C>T (p.Cys1150=)
|
rs377608130
|
|
NM_030962.4(SBF2):c.3455+20C>T
|
rs760955204
|
|
NM_030962.4(SBF2):c.3456-12A>G
|
|
|
NM_030962.4(SBF2):c.3456-12_3456-11del
|
|
|
NM_030962.4(SBF2):c.3456-18T>C
|
|
|
NM_030962.4(SBF2):c.3456-19C>T
|
|
|
NM_030962.4(SBF2):c.3456-22_3456-18del
|
rs751512324
|
|
NM_030962.4(SBF2):c.3457T>C (p.Tyr1153His)
|
rs1060499998
|
|
NM_030962.4(SBF2):c.3469T>A (p.Leu1157Ile)
|
rs2133937354
|
|
NM_030962.4(SBF2):c.3475G>A (p.Val1159Ile)
|
|
|
NM_030962.4(SBF2):c.3479C>T (p.Pro1160Leu)
|
rs1233967178
|
|
NM_030962.4(SBF2):c.3483A>G (p.Gln1161=)
|
|
|
NM_030962.4(SBF2):c.348T>G (p.Phe116Leu)
|
rs1949238558
|
|
NM_030962.4(SBF2):c.3501T>C (p.Ser1167=)
|
|
|
NM_030962.4(SBF2):c.3505C>A (p.Pro1169Thr)
|
rs535680998
|
|
NM_030962.4(SBF2):c.3507A>G (p.Pro1169=)
|
|
|
NM_030962.4(SBF2):c.3522C>T (p.Cys1174=)
|
|
|
NM_030962.4(SBF2):c.353C>T (p.Pro118Leu)
|
rs1949238001
|
|
NM_030962.4(SBF2):c.3540G>A (p.Leu1180=)
|
|
|
NM_030962.4(SBF2):c.3547G>T (p.Val1183Leu)
|
rs2133937176
|
|
NM_030962.4(SBF2):c.3550T>C (p.Cys1184Arg)
|
rs762738168
|
|
NM_030962.4(SBF2):c.3576T>G (p.Thr1192=)
|
rs779580044
|
|
NM_030962.4(SBF2):c.3579G>C (p.Leu1193=)
|
rs2133937125
|
|
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)
|
rs120074138
|
|
NM_030962.4(SBF2):c.3587G>A (p.Arg1196Gln)
|
rs376309876
|
|
NM_030962.4(SBF2):c.3602A>G (p.His1201Arg)
|
rs869312970
|
|
NM_030962.4(SBF2):c.3609G>A (p.Lys1203=)
|
|
|
NM_030962.4(SBF2):c.3611G>T (p.Gly1204Val)
|
rs781282456
|
|
NM_030962.4(SBF2):c.3618T>C (p.Val1206=)
|
rs1855446145
|
|
NM_030962.4(SBF2):c.3632C>G (p.Ser1211Cys)
|
rs1356162033
|
|
NM_030962.4(SBF2):c.3642C>T (p.Ser1214=)
|
rs2133937017
|
|
NM_030962.4(SBF2):c.3644C>G (p.Pro1215Arg)
|
rs1855445153
|
|
NM_030962.4(SBF2):c.364G>A (p.Val122Met)
|
|
|
NM_030962.4(SBF2):c.3652+13C>G
|
|
|
NM_030962.4(SBF2):c.3652+1G>C
|
|
|
NM_030962.4(SBF2):c.3652+5G>A
|
rs199502044
|
|
NM_030962.4(SBF2):c.3652+9CT[2]
|
rs376260584
|
|
NM_030962.4(SBF2):c.3653-15A>G
|
|
|
NM_030962.4(SBF2):c.3653-19A>C
|
rs1855259655
|
|
NM_030962.4(SBF2):c.3656C>T (p.Pro1219Leu)
|
|
|
NM_030962.4(SBF2):c.3659C>T (p.Thr1220Ile)
|
rs1439541685
|
|
NM_030962.4(SBF2):c.3673T>A (p.Ser1225Thr)
|
|
|
NM_030962.4(SBF2):c.3674C>A (p.Ser1225Tyr)
|
rs759215256
|
|
NM_030962.4(SBF2):c.3674_3691dup (p.Glu1230_Gln1231insProSerSerSerIleGlu)
|
rs2133931845
|
|
NM_030962.4(SBF2):c.3712T>A (p.Leu1238Ile)
|
rs1564890006
|
|
NM_030962.4(SBF2):c.3720T>C (p.Asn1240=)
|
|
|
NM_030962.4(SBF2):c.3722C>A (p.Ala1241Asp)
|
rs779174513
|
|
NM_030962.4(SBF2):c.3734A>G (p.His1245Arg)
|
rs2133931756
|
|
NM_030962.4(SBF2):c.3741A>T (p.Lys1247Asn)
|
rs1855252886
|
|
NM_030962.4(SBF2):c.3745A>G (p.Arg1249Gly)
|
rs1554914278
|
|
NM_030962.4(SBF2):c.3759T>G (p.Thr1253=)
|
|
|
NM_030962.4(SBF2):c.3761T>A (p.Leu1254His)
|
|
|
NM_030962.4(SBF2):c.3761T>C (p.Leu1254Pro)
|
rs762211340
|
|
NM_030962.4(SBF2):c.3777C>A (p.Ala1259=)
|
|
|
NM_030962.4(SBF2):c.3777C>G (p.Ala1259=)
|
|
|
NM_030962.4(SBF2):c.3784C>G (p.Leu1262Val)
|
rs1270676073
|
|
NM_030962.4(SBF2):c.3784C>T (p.Leu1262=)
|
rs1270676073
|
|
NM_030962.4(SBF2):c.3793+10G>A
|
|
|
NM_030962.4(SBF2):c.3793+14A>G
|
rs2133931561
|
|
NM_030962.4(SBF2):c.3793+14_3793+16del
|
rs773684325
|
|
NM_030962.4(SBF2):c.3793+17C>A
|
rs755950037
|
|
NM_030962.4(SBF2):c.3793+17C>T
|
|
|
NM_030962.4(SBF2):c.3794-11C>T
|
|
|
NM_030962.4(SBF2):c.379T>C (p.Leu127=)
|
|
|
NM_030962.4(SBF2):c.3804A>C (p.Ala1268=)
|
|
|
NM_030962.4(SBF2):c.3812G>T (p.Arg1271Leu)
|
rs201249004
|
|
NM_030962.4(SBF2):c.3823C>G (p.Arg1275Gly)
|
rs956737183
|
|
NM_030962.4(SBF2):c.3837T>G (p.Ser1279=)
|
rs1554909254
|
|
NM_030962.4(SBF2):c.3840A>G (p.Pro1280=)
|
|
|
NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala)
|
rs869312963
|
|
NM_030962.4(SBF2):c.3866G>T (p.Arg1289Leu)
|
rs757836523
|
|
NM_030962.4(SBF2):c.3871G>C (p.Ala1291Pro)
|
rs1488414945
|
|
NM_030962.4(SBF2):c.387T>A (p.Tyr129Ter)
|
|
|
NM_030962.4(SBF2):c.387T>C (p.Tyr129=)
|
rs1590797444
|
|
NM_030962.4(SBF2):c.3888G>A (p.Ser1296=)
|
rs375669985
|
|
NM_030962.4(SBF2):c.389C>T (p.Pro130Leu)
|
rs1201147678
|
|
NM_030962.4(SBF2):c.38A>C (p.Tyr13Ser)
|
rs1591380986
|
|
NM_030962.4(SBF2):c.38A>T (p.Tyr13Phe)
|
|
|
NM_030962.4(SBF2):c.3902A>G (p.Asn1301Ser)
|
rs1429630644
|
|
NM_030962.4(SBF2):c.3925C>T (p.Leu1309Phe)
|
rs1564879807
|
|
NM_030962.4(SBF2):c.3938A>G (p.Gln1313Arg)
|
rs1554909178
|
|
NM_030962.4(SBF2):c.3945C>G (p.Ala1315=)
|
|
|
NM_030962.4(SBF2):c.394A>G (p.Ile132Val)
|
|
|
NM_030962.4(SBF2):c.3956T>G (p.Phe1319Cys)
|
rs2133911307
|
|
NM_030962.4(SBF2):c.3969G>T (p.Ser1323=)
|
rs77833016
|
|
NM_030962.4(SBF2):c.3975A>G (p.Leu1325=)
|
|
|
NM_030962.4(SBF2):c.3979-2A>G
|
|
|
NM_030962.4(SBF2):c.3979-4G>A
|
rs375742620
|
|
NM_030962.4(SBF2):c.3979-4G>T
|
rs375742620
|
|
NM_030962.4(SBF2):c.3979-5C>T
|
|
|
NM_030962.4(SBF2):c.3979-9C>T
|
|
|
NM_030962.4(SBF2):c.402+11_402+21del
|
|
|
NM_030962.4(SBF2):c.402+12_402+13insAAAAAATG
|
|
|
NM_030962.4(SBF2):c.402+14A>G
|
|
|
NM_030962.4(SBF2):c.402+15G>C
|
|
|
NM_030962.4(SBF2):c.402+16T>C
|
|
|
NM_030962.4(SBF2):c.403-11T>C
|
|
|
NM_030962.4(SBF2):c.403-12A>T
|
|
|
NM_030962.4(SBF2):c.403-13T>C
|
|
|
NM_030962.4(SBF2):c.403-4G>C
|
|
|
NM_030962.4(SBF2):c.403-5del
|
|
|
NM_030962.4(SBF2):c.4052C>A (p.Ala1351Asp)
|
rs2133904474
|
|
NM_030962.4(SBF2):c.405T>C (p.Ala135=)
|
|
|
NM_030962.4(SBF2):c.4067T>C (p.Leu1356Pro)
|
rs1854252785
|
|
NM_030962.4(SBF2):c.4074G>A (p.Arg1358=)
|
|
|
NM_030962.4(SBF2):c.4090A>G (p.Thr1364Ala)
|
|
|
NM_030962.4(SBF2):c.4094T>G (p.Ile1365Ser)
|
|
|
NM_030962.4(SBF2):c.4111G>A (p.Val1371Met)
|
rs149501654
|
|
NM_030962.4(SBF2):c.411G>T (p.Leu137=)
|
rs1949191944
|
|
NM_030962.4(SBF2):c.4121T>G (p.Leu1374Arg)
|
rs1854248122
|
|
NM_030962.4(SBF2):c.412G>C (p.Gly138Arg)
|
|
|
NM_030962.4(SBF2):c.4133G>A (p.Gly1378Glu)
|
rs1854247198
|
|
NM_030962.4(SBF2):c.4137T>C (p.Asp1379=)
|
|
|
NM_030962.4(SBF2):c.4146G>C (p.Trp1382Cys)
|
rs1854246275
|
|
NM_030962.4(SBF2):c.4155+16G>C
|
|
|
NM_030962.4(SBF2):c.4155+7T>C
|
|
|
NM_030962.4(SBF2):c.4156-15_4156-5del
|
rs745522461
|
|
NM_030962.4(SBF2):c.4156-4T>C
|
|
|
NM_030962.4(SBF2):c.4156-7C>G
|
rs2133898233
|
|
NM_030962.4(SBF2):c.4156-9G>A
|
rs2133898236
|
|
NM_030962.4(SBF2):c.415T>G (p.Leu139Val)
|
rs146361949
|
|
NM_030962.4(SBF2):c.4161C>T (p.His1387=)
|
|
|
NM_030962.4(SBF2):c.4162A>C (p.Arg1388=)
|
rs1854010179
|
|
NM_030962.4(SBF2):c.4171C>G (p.Gln1391Glu)
|
|
|
NM_030962.4(SBF2):c.4173G>T (p.Gln1391His)
|
|
|
NM_030962.4(SBF2):c.417G>A (p.Leu139=)
|
|
|
NM_030962.4(SBF2):c.4183G>T (p.Val1395Phe)
|
|
|
NM_030962.4(SBF2):c.4187dup (p.Ser1397fs)
|
|
|
NM_030962.4(SBF2):c.4203G>C (p.Glu1401Asp)
|
rs750353766
|
|
NM_030962.4(SBF2):c.4209T>C (p.Gly1403=)
|
|
|
NM_030962.4(SBF2):c.420C>A (p.Ile140=)
|
|
|
NM_030962.4(SBF2):c.4214C>T (p.Ser1405Leu)
|
|
|
NM_030962.4(SBF2):c.4221G>C (p.Leu1407Phe)
|
|
|
NM_030962.4(SBF2):c.4236A>G (p.Glu1412=)
|
|
|
NM_030962.4(SBF2):c.4257+14C>T
|
rs771419758
|
|
NM_030962.4(SBF2):c.4257+17del
|
|
|
NM_030962.4(SBF2):c.4257+20T>C
|
|
|
NM_030962.4(SBF2):c.4258-18A>T
|
|
|
NM_030962.4(SBF2):c.4258-20C>G
|
rs1324228041
|
|
NM_030962.4(SBF2):c.4260G>T (p.Val1420=)
|
|
|
NM_030962.4(SBF2):c.426C>T (p.Thr142=)
|
|
|
NM_030962.4(SBF2):c.4279C>T (p.Leu1427Phe)
|
rs760329902
|
|
NM_030962.4(SBF2):c.4282A>G (p.Ser1428Gly)
|
rs2133896771
|
|
NM_030962.4(SBF2):c.4283G>T (p.Ser1428Ile)
|
rs1853958713
|
|
NM_030962.4(SBF2):c.4296T>G (p.Tyr1432Ter)
|
|
|
NM_030962.4(SBF2):c.4297dup (p.Arg1433fs)
|
|
|
NM_030962.4(SBF2):c.4301C>T (p.Thr1434Ile)
|
|
|
NM_030962.4(SBF2):c.4347T>C (p.Phe1449=)
|
|
|
NM_030962.4(SBF2):c.4351C>G (p.His1451Asp)
|
rs2133896649
|
|
NM_030962.4(SBF2):c.4363C>T (p.Gln1455Ter)
|
|
|
NM_030962.4(SBF2):c.4368G>A (p.Arg1456=)
|
|
|
NM_030962.4(SBF2):c.4377G>C (p.Leu1459Phe)
|
|
|
NM_030962.4(SBF2):c.4395G>A (p.Gly1465=)
|
|
|
NM_030962.4(SBF2):c.43C>T (p.His15Tyr)
|
rs1324706227
|
|
NM_030962.4(SBF2):c.4408C>G (p.Pro1470Ala)
|
|
|
NM_030962.4(SBF2):c.4420C>G (p.Gln1474Glu)
|
rs1590130857
|
|
NM_030962.4(SBF2):c.4425C>G (p.Phe1475Leu)
|
|
|
NM_030962.4(SBF2):c.4443+13A>T
|
|
|
NM_030962.4(SBF2):c.4443+14G>T
|
|
|
NM_030962.4(SBF2):c.4443+18G>C
|
|
|
NM_030962.4(SBF2):c.4443+19A>T
|
|
|
NM_030962.4(SBF2):c.4443+1G>A
|
rs1564872328
|
|
NM_030962.4(SBF2):c.4444G>A (p.Val1482Ile)
|
|
|
NM_030962.4(SBF2):c.4465G>A (p.Glu1489Lys)
|
rs864622502
|
|
NM_030962.4(SBF2):c.4478A>G (p.Asn1493Ser)
|
|
|
NM_030962.4(SBF2):c.4491A>G (p.Leu1497=)
|
|
|
NM_030962.4(SBF2):c.4510T>G (p.Tyr1504Asp)
|
rs1853093188
|
|
NM_030962.4(SBF2):c.4516T>G (p.Ser1506Ala)
|
|
|
NM_030962.4(SBF2):c.4522C>G (p.Arg1508Gly)
|
rs141108330
|
|
NM_030962.4(SBF2):c.4539C>T (p.Leu1513=)
|
rs756073763
|
|
NM_030962.4(SBF2):c.4564G>C (p.Glu1522Gln)
|
rs1853090043
|
|
NM_030962.4(SBF2):c.456G>A (p.Leu152=)
|
rs1949189908
|
|
NM_030962.4(SBF2):c.4570+13A>T
|
rs945495130
|
|
NM_030962.4(SBF2):c.4570+14T>C
|
|
|
NM_030962.4(SBF2):c.4570+19T>C
|
|
|
NM_030962.4(SBF2):c.4570+20T>C
|
|
|
NM_030962.4(SBF2):c.4571-10T>A
|
|
|
NM_030962.4(SBF2):c.4571-18G>T
|
|
|
NM_030962.4(SBF2):c.4571-1G>A
|
rs2133861770
|
|
NM_030962.4(SBF2):c.4592G>A (p.Gly1531Glu)
|
|
|
NM_030962.4(SBF2):c.45C>G (p.His15Gln)
|
rs1964352895
|
|
NM_030962.4(SBF2):c.4603G>A (p.Ala1535Thr)
|
rs546392558
|
|
NM_030962.4(SBF2):c.4611A>G (p.Lys1537=)
|
rs930093275
|
|
NM_030962.4(SBF2):c.463C>T (p.Leu155=)
|
|
|
NM_030962.4(SBF2):c.4664T>G (p.Phe1555Cys)
|
rs1852677610
|
|
NM_030962.4(SBF2):c.4675T>G (p.Leu1559Val)
|
|
|
NM_030962.4(SBF2):c.4681T>G (p.Ser1561Ala)
|
rs1453584782
|
|
NM_030962.4(SBF2):c.4698+10G>A
|
rs768677228
|
|
NM_030962.4(SBF2):c.4698+1del
|
rs2133861507
|
|
NM_030962.4(SBF2):c.4698+6G>A
|
rs1852674371
|
|
NM_030962.4(SBF2):c.4699-14G>C
|
rs945573981
|
|
NM_030962.4(SBF2):c.4699-16C>G
|
|
|
NM_030962.4(SBF2):c.4699-1G>T
|
|
|
NM_030962.4(SBF2):c.4701T>G (p.Ala1567=)
|
rs750656969
|
|
NM_030962.4(SBF2):c.4702C>T (p.Leu1568=)
|
|
|
NM_030962.4(SBF2):c.4704A>G (p.Leu1568=)
|
rs1590087815
|
|
NM_030962.4(SBF2):c.4709C>G (p.Pro1570Arg)
|
|
|
NM_030962.4(SBF2):c.4710C>G (p.Pro1570=)
|
|
|
NM_030962.4(SBF2):c.4712A>T (p.Asn1571Ile)
|
rs371960255
|
|
NM_030962.4(SBF2):c.4713T>C (p.Asn1571=)
|
|
|
NM_030962.4(SBF2):c.4716A>G (p.Val1572=)
|
rs1205440223
|
|
NM_030962.4(SBF2):c.4735A>C (p.Lys1579Gln)
|
rs2133858789
|
|
NM_030962.4(SBF2):c.4737G>A (p.Lys1579=)
|
rs2133858788
|
|
NM_030962.4(SBF2):c.4785C>G (p.Asp1595Glu)
|
|
|
NM_030962.4(SBF2):c.4799C>G (p.Thr1600Ser)
|
rs183468503
|
|
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe)
|
rs1214507322
|
|
NM_030962.4(SBF2):c.4803C>A (p.Pro1601=)
|
|
|
NM_030962.4(SBF2):c.4817C>G (p.Ser1606Cys)
|
|
|
NM_030962.4(SBF2):c.4840G>A (p.Glu1614Lys)
|
rs1852578314
|
|
NM_030962.4(SBF2):c.4881C>T (p.Cys1627=)
|
rs2133858474
|
|
NM_030962.4(SBF2):c.4890T>A (p.Asp1630Glu)
|
rs963997810
|
|
NM_030962.4(SBF2):c.4913C>G (p.Ala1638Gly)
|
rs758932167
|
|
NM_030962.4(SBF2):c.4919C>A (p.Thr1640Asn)
|
rs1284170057
|
|
NM_030962.4(SBF2):c.4926T>C (p.Leu1642=)
|
|
|
NM_030962.4(SBF2):c.492C>G (p.Val164=)
|
rs559769224
|
|
NM_030962.4(SBF2):c.4932+12G>A
|
|
|
NM_030962.4(SBF2):c.4933-13_4933-9del
|
rs767990042
|
|
NM_030962.4(SBF2):c.4933-1G>A
|
|
|
NM_030962.4(SBF2):c.4933-20A>G
|
|
|
NM_030962.4(SBF2):c.494C>T (p.Pro165Leu)
|
rs1949187604
|
|
NM_030962.4(SBF2):c.4967C>T (p.Ala1656Val)
|
rs139634638
|
|
NM_030962.4(SBF2):c.4968C>T (p.Ala1656=)
|
|
|
NM_030962.4(SBF2):c.497C>T (p.Ala166Val)
|
|
|
NM_030962.4(SBF2):c.4983G>A (p.Gln1661=)
|
|
|
NM_030962.4(SBF2):c.498G>A (p.Ala166=)
|
|
|
NM_030962.4(SBF2):c.5004C>G (p.Thr1668=)
|
rs150598413
|
|
NM_030962.4(SBF2):c.5004C>T (p.Thr1668=)
|
rs150598413
|
|
NM_030962.4(SBF2):c.5010C>A (p.Asp1670Glu)
|
rs142672124
|
|
NM_030962.4(SBF2):c.5016A>G (p.Lys1672=)
|
rs1564852595
|
|
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del)
|
rs572571832
|
|
NM_030962.4(SBF2):c.5022A>G (p.Glu1674=)
|
|
|
NM_030962.4(SBF2):c.5024C>G (p.Pro1675Arg)
|
rs1852460091
|
|
NM_030962.4(SBF2):c.5030C>T (p.Thr1677Ile)
|
rs760027294
|
|
NM_030962.4(SBF2):c.5034T>C (p.Asp1678=)
|
rs771306445
|
|
NM_030962.4(SBF2):c.5037+11A>C
|
|
|
NM_030962.4(SBF2):c.5037+14_5037+19dup
|
rs759123434
|
|
NM_030962.4(SBF2):c.5037+1G>A
|
rs1060499999
|
|
NM_030962.4(SBF2):c.5037+1G>C
|
rs1060499999
|
|
NM_030962.4(SBF2):c.5038-11_5038-8del
|
rs1189608485
|
|
NM_030962.4(SBF2):c.5038-16G>T
|
|
|
NM_030962.4(SBF2):c.5038-18C>T
|
|
|
NM_030962.4(SBF2):c.5038-2A>G
|
rs2133850270
|
|
NM_030962.4(SBF2):c.5038-9C>G
|
rs1453213030
|
|
NM_030962.4(SBF2):c.5038-9C>T
|
rs1453213030
|
|
NM_030962.4(SBF2):c.5067A>T (p.Gly1689=)
|
|
|
NM_030962.4(SBF2):c.506G>A (p.Gly169Glu)
|
rs1949186665
|
|
NM_030962.4(SBF2):c.5077A>T (p.Thr1693Ser)
|
rs935208245
|
|
NM_030962.4(SBF2):c.5102G>A (p.Arg1701Lys)
|
rs914679014
|
|
NM_030962.4(SBF2):c.5118C>G (p.Leu1706=)
|
|
|
NM_030962.4(SBF2):c.513+10A>G
|
|
|
NM_030962.4(SBF2):c.513+4A>G
|
rs1554990552
|
|
NM_030962.4(SBF2):c.5135G>T (p.Gly1712Val)
|
rs757214892
|
|
NM_030962.4(SBF2):c.5139G>A (p.Glu1713=)
|
|
|
NM_030962.4(SBF2):c.514-12C>A
|
rs770141264
|
|
NM_030962.4(SBF2):c.514-9A>G
|
rs906365170
|
|
NM_030962.4(SBF2):c.5149T>C (p.Ser1717Pro)
|
|
|
NM_030962.4(SBF2):c.5167A>G (p.Asn1723Asp)
|
|
|
NM_030962.4(SBF2):c.5169T>C (p.Asn1723=)
|
rs1452599195
|
|
NM_030962.4(SBF2):c.5187A>G (p.Ala1729=)
|
|
|
NM_030962.4(SBF2):c.5192C>T (p.Thr1731Met)
|
|
|
NM_030962.4(SBF2):c.5198A>G (p.Tyr1733Cys)
|
rs1334739235
|
|
NM_030962.4(SBF2):c.5200A>C (p.Ser1734Arg)
|
rs1411871638
|
|
NM_030962.4(SBF2):c.5202C>T (p.Ser1734=)
|
|
|
NM_030962.4(SBF2):c.5204A>T (p.Gln1735Leu)
|
rs2133849923
|
|
NM_030962.4(SBF2):c.5205G>C (p.Gln1735His)
|
rs878855131
|
|
NM_030962.4(SBF2):c.5209A>T (p.Thr1737Ser)
|
rs1564850356
|
|
NM_030962.4(SBF2):c.5213C>G (p.Ser1738Cys)
|
rs2133849900
|
|
NM_030962.4(SBF2):c.5223T>C (p.Asp1741=)
|
|
|
NM_030962.4(SBF2):c.5232-4C>G
|
|
|
NM_030962.4(SBF2):c.5249T>C (p.Leu1750Pro)
|
rs1852233208
|
|
NM_030962.4(SBF2):c.5250_5251del (p.Leu1750_Tyr1751insTer)
|
|
|
NM_030962.4(SBF2):c.5258G>A (p.Arg1753Lys)
|
rs1852232500
|
|
NM_030962.4(SBF2):c.525T>C (p.Ser175=)
|
rs2134627335
|
|
NM_030962.4(SBF2):c.5277T>C (p.Gly1759=)
|
rs774505575
|
|
NM_030962.4(SBF2):c.527T>C (p.Leu176Ser)
|
rs1554990128
|
|
NM_030962.4(SBF2):c.5285C>T (p.Pro1762Leu)
|
rs1051248230
|
|
NM_030962.4(SBF2):c.5291G>C (p.Trp1764Ser)
|
|
|
NM_030962.4(SBF2):c.5319+13A>C
|
|
|
NM_030962.4(SBF2):c.5319+18A>G
|
rs577375809
|
|
NM_030962.4(SBF2):c.5319+6dup
|
rs2133848257
|
|
NM_030962.4(SBF2):c.5319+9C>G
|
rs539959164
|
|
NM_030962.4(SBF2):c.5320-10T>C
|
|
|
NM_030962.4(SBF2):c.5320-13C>T
|
|
|
NM_030962.4(SBF2):c.5320-9dup
|
|
|
NM_030962.4(SBF2):c.5354G>A (p.Cys1785Tyr)
|
|
|
NM_030962.4(SBF2):c.536G>A (p.Gly179Glu)
|
|
|
NM_030962.4(SBF2):c.5371C>T (p.Leu1791=)
|
rs2133841818
|
|
NM_030962.4(SBF2):c.5375C>G (p.Ala1792Gly)
|
rs1554897834
|
|
NM_030962.4(SBF2):c.5375C>T (p.Ala1792Val)
|
rs1554897834
|
|
NM_030962.4(SBF2):c.5398G>A (p.Ala1800Thr)
|
rs1852008750
|
|
NM_030962.4(SBF2):c.5399C>A (p.Ala1800Asp)
|
|
|
NM_030962.4(SBF2):c.5400T>C (p.Ala1800=)
|
|
|
NM_030962.4(SBF2):c.5435A>G (p.Asp1812Gly)
|
rs1852006389
|
|
NM_030962.4(SBF2):c.5437A>G (p.Lys1813Glu)
|
rs1590068012
|
|
NM_030962.4(SBF2):c.5438A>C (p.Lys1813Thr)
|
rs1852006110
|
|
NM_030962.4(SBF2):c.5440G>T (p.Ala1814Ser)
|
rs1852005955
|
|
NM_030962.4(SBF2):c.5451+10T>C
|
|
|
NM_030962.4(SBF2):c.5451+14_5451+17del
|
rs1326251358
|
|
NM_030962.4(SBF2):c.5451+3_5451+6dup
|
rs1428808794
|
|
NM_030962.4(SBF2):c.5451+8G>C
|
rs948210964
|
|
NM_030962.4(SBF2):c.5452-13T>C
|
|
|
NM_030962.4(SBF2):c.5452-16T>C
|
|
|
NM_030962.4(SBF2):c.5470G>A (p.Val1824Met)
|
rs1851934295
|
|
NM_030962.4(SBF2):c.5472G>A (p.Val1824=)
|
rs1353568885
|
|
NM_030962.4(SBF2):c.5472G>C (p.Val1824=)
|
rs1353568885
|
|
NM_030962.4(SBF2):c.5498A>G (p.Gln1833Arg)
|
rs763965438
|
|
NM_030962.4(SBF2):c.55+13G>A
|
|
|
NM_030962.4(SBF2):c.55+7G>A
|
rs2133630493
|
|
NM_030962.4(SBF2):c.5522A>G (p.Lys1841Arg)
|
|
|
NM_030962.4(SBF2):c.5530_5531del (p.Ser1844fs)
|
rs1293444505
|
|
NM_030962.4(SBF2):c.5547C>A (p.Ala1849=)
|
|
|
NM_030962.4(SBF2):c.555G>C (p.Gln185His)
|
rs1254270693
|
|
NM_030962.4(SBF2):c.56-1G>A
|
rs2135330973
|
|
NM_030962.4(SBF2):c.564A>G (p.Leu188=)
|
|
|
NM_030962.4(SBF2):c.565C>T (p.His189Tyr)
|
rs1280211892
|
|
NM_030962.4(SBF2):c.568G>A (p.Asp190Asn)
|
rs201738577
|
|
NM_030962.4(SBF2):c.574C>G (p.Leu192Val)
|
rs1949129969
|
|
NM_030962.4(SBF2):c.595G>A (p.Val199Met)
|
|
|
NM_030962.4(SBF2):c.600T>G (p.Ala200=)
|
rs770433606
|
|
NM_030962.4(SBF2):c.610C>T (p.Gln204Ter)
|
rs141133392
|
|
NM_030962.4(SBF2):c.611A>G (p.Gln204Arg)
|
rs2134626742
|
|
NM_030962.4(SBF2):c.612G>A (p.Gln204=)
|
rs1554990046
|
|
NM_030962.4(SBF2):c.613C>T (p.Gln205Ter)
|
|
|
NM_030962.4(SBF2):c.614A>C (p.Gln205Pro)
|
rs1949128392
|
|
NM_030962.4(SBF2):c.615A>G (p.Gln205=)
|
|
|
NM_030962.4(SBF2):c.616T>C (p.Leu206=)
|
rs1590791206
|
|
NM_030962.4(SBF2):c.619+18T>C
|
|
|
NM_030962.4(SBF2):c.619+6T>A
|
|
|
NM_030962.4(SBF2):c.61G>A (p.Gly21Arg)
|
rs774844294
|
|
NM_030962.4(SBF2):c.620-10dup
|
rs1948023557
|
|
NM_030962.4(SBF2):c.626A>C (p.Gln209Pro)
|
|
|
NM_030962.4(SBF2):c.636C>T (p.Leu212=)
|
|
|
NM_030962.4(SBF2):c.651A>C (p.Ala217=)
|
rs200293270
|
|
NM_030962.4(SBF2):c.673C>T (p.Leu225Phe)
|
|
|
NM_030962.4(SBF2):c.674T>C (p.Leu225Pro)
|
|
|
NM_030962.4(SBF2):c.675C>G (p.Leu225=)
|
rs2134514191
|
|
NM_030962.4(SBF2):c.699A>G (p.Arg233=)
|
|
|
NM_030962.4(SBF2):c.6C>G (p.Ala2=)
|
rs1311980728
|
|
NM_030962.4(SBF2):c.700C>T (p.Leu234Phe)
|
rs749378136
|
|
NM_030962.4(SBF2):c.716G>A (p.Arg239Lys)
|
|
|
NM_030962.4(SBF2):c.724G>T (p.Glu242Ter)
|
|
|
NM_030962.4(SBF2):c.727T>A (p.Ser243Thr)
|
|
|
NM_030962.4(SBF2):c.728C>A (p.Ser243Tyr)
|
rs2134513972
|
|
NM_030962.4(SBF2):c.735G>A (p.Met245Ile)
|
rs1554981022
|
|
NM_030962.4(SBF2):c.745A>G (p.Lys249Glu)
|
|
|
NM_030962.4(SBF2):c.747A>G (p.Lys249=)
|
rs1554981019
|
|
NM_030962.4(SBF2):c.752+12A>G
|
|
|
NM_030962.4(SBF2):c.753-10T>C
|
rs2134507238
|
|
NM_030962.4(SBF2):c.753-16T>C
|
rs7128234
|
|
NM_030962.4(SBF2):c.753-18T>C
|
|
|
NM_030962.4(SBF2):c.753-4C>G
|
|
|
NM_030962.4(SBF2):c.754_823del (p.Tyr252fs)
|
rs1565115957
|
|
NM_030962.4(SBF2):c.75G>A (p.Gly25=)
|
rs1279874044
|
|
NM_030962.4(SBF2):c.766C>A (p.Pro256Thr)
|
rs879253987
|
|
NM_030962.4(SBF2):c.767C>G (p.Pro256Arg)
|
rs1947932193
|
|
NM_030962.4(SBF2):c.76A>G (p.Lys26Glu)
|
|
|
NM_030962.4(SBF2):c.772C>G (p.Leu258Val)
|
|
|
NM_030962.4(SBF2):c.776C>T (p.Pro259Leu)
|
|
|
NM_030962.4(SBF2):c.782A>G (p.Gln261Arg)
|
|
|
NM_030962.4(SBF2):c.791A>G (p.Glu264Gly)
|
rs928271143
|
|
NM_030962.4(SBF2):c.793G>T (p.Val265Phe)
|
rs1655963955
|
|
NM_030962.4(SBF2):c.796C>G (p.Leu266Val)
|
rs1565116051
|
|
NM_030962.4(SBF2):c.804C>T (p.Ser268=)
|
rs763567646
|
|
NM_030962.4(SBF2):c.810G>T (p.Thr270=)
|
rs769963369
|
|
NM_030962.4(SBF2):c.819T>C (p.Ile273=)
|
rs1947929110
|
|
NM_030962.4(SBF2):c.820A>G (p.Ile274Val)
|
|
|
NM_030962.4(SBF2):c.861+5G>C
|
rs879253963
|
|
NM_030962.4(SBF2):c.861+9T>G
|
rs1947927028
|
|
NM_030962.4(SBF2):c.862-12T>A
|
|
|
NM_030962.4(SBF2):c.862-12dup
|
rs766293143
|
|
NM_030962.4(SBF2):c.862-15T>C
|
|
|
NM_030962.4(SBF2):c.873C>T (p.Ile291=)
|
rs2134496815
|
|
NM_030962.4(SBF2):c.873_875del (p.Ile292del)
|
rs2134496803
|
|
NM_030962.4(SBF2):c.883T>A (p.Leu295Met)
|
|
|
NM_030962.4(SBF2):c.887A>T (p.Asp296Val)
|
|
|
NM_030962.4(SBF2):c.910G>A (p.Glu304Lys)
|
rs781039677
|
|
NM_030962.4(SBF2):c.910G>C (p.Glu304Gln)
|
rs781039677
|
|
NM_030962.4(SBF2):c.931C>T (p.Leu311Phe)
|
|
|
NM_030962.4(SBF2):c.933C>A (p.Leu311=)
|
|
|
NM_030962.4(SBF2):c.935C>T (p.Pro312Leu)
|
rs1947799030
|
|
NM_030962.4(SBF2):c.948A>C (p.Leu316=)
|
rs772340409
|
|
NM_030962.4(SBF2):c.952C>T (p.Gln318Ter)
|
|
|
NM_030962.4(SBF2):c.958C>T (p.Gln320Ter)
|
|
|
NM_030962.4(SBF2):c.975+10A>G
|
|
|
NM_030962.4(SBF2):c.975+8A>G
|
rs371861993
|
|
NM_030962.4(SBF2):c.981A>G (p.Leu327=)
|
|
|
NM_030962.4(SBF2):c.986C>T (p.Pro329Leu)
|
|
|
NM_030962.4(SBF2):c.989A>G (p.Asp330Gly)
|
|
|
NM_181882.3(PRX):c.1001_1022del (p.Gly334fs)
|
|
|
NM_181882.3(PRX):c.1002G>T (p.Gly334=)
|
rs755650027
|
|
NM_181882.3(PRX):c.1013C>T (p.Ala338Val)
|
rs1368840723
|
|
NM_181882.3(PRX):c.1021G>T (p.Gly341Cys)
|
rs750822167
|
|
NM_181882.3(PRX):c.104C>A (p.Ala35Glu)
|
rs138047753
|
|
NM_181882.3(PRX):c.104C>T (p.Ala35Val)
|
rs138047753
|
|
NM_181882.3(PRX):c.105G>A (p.Ala35=)
|
|
|
NM_181882.3(PRX):c.1061C>T (p.Ala354Val)
|
rs2145731516
|
|
NM_181882.3(PRX):c.108C>G (p.Gly36=)
|
rs771407657
|
|
NM_181882.3(PRX):c.1097G>A (p.Gly366Glu)
|
|
|
NM_181882.3(PRX):c.1125C>T (p.Ala375=)
|
rs2145731404
|
|
NM_181882.3(PRX):c.112G>C (p.Gly38Arg)
|
|
|
NM_181882.3(PRX):c.1134C>T (p.Ala378=)
|
|
|
NM_181882.3(PRX):c.113G>A (p.Gly38Asp)
|
|
|
NM_181882.3(PRX):c.1141A>C (p.Ser381Arg)
|
rs1049349860
|
|
NM_181882.3(PRX):c.1155G>A (p.Arg385=)
|
|
|
NM_181882.3(PRX):c.1160A>G (p.Lys387Arg)
|
rs1438526620
|
|
NM_181882.3(PRX):c.1167C>T (p.Pro389=)
|
rs1417251724
|
|
NM_181882.3(PRX):c.1169G>A (p.Arg390Lys)
|
rs2079447897
|
|
NM_181882.3(PRX):c.116_131del (p.Lys39fs)
|
|
|
NM_181882.3(PRX):c.1171del (p.Leu391fs)
|
rs2145731305
|
|
NM_181882.3(PRX):c.1177A>G (p.Met393Val)
|
rs2145731286
|
|
NM_181882.3(PRX):c.1183A>T (p.Thr395Ser)
|
|
|
NM_181882.3(PRX):c.119A>C (p.Glu40Ala)
|
rs2145741372
|
|
NM_181882.3(PRX):c.11G>A (p.Arg4Lys)
|
|
|
NM_181882.3(PRX):c.1228G>A (p.Val410Ile)
|
|
|
NM_181882.3(PRX):c.1242G>A (p.Lys414=)
|
|
|
NM_181882.3(PRX):c.1275T>G (p.Leu425=)
|
rs2145731118
|
|
NM_181882.3(PRX):c.1283G>C (p.Gly428Ala)
|
|
|
NM_181882.3(PRX):c.130G>C (p.Val44Leu)
|
|
|
NM_181882.3(PRX):c.1324G>A (p.Val442Met)
|
|
|
NM_181882.3(PRX):c.1339G>A (p.Ala447Thr)
|
rs2079445823
|
|
NM_181882.3(PRX):c.1344T>C (p.Pro448=)
|
|
|
NM_181882.3(PRX):c.1345G>A (p.Glu449Lys)
|
rs2145730978
|
|
NM_181882.3(PRX):c.134G>C (p.Arg45Pro)
|
rs751441856
|
|
NM_181882.3(PRX):c.135G>C (p.Arg45=)
|
rs779875514
|
|
NM_181882.3(PRX):c.1368C>T (p.Pro456=)
|
|
|
NM_181882.3(PRX):c.1369G>C (p.Glu457Gln)
|
rs142064826
|
|
NM_181882.3(PRX):c.1373C>T (p.Ala458Val)
|
|
|
NM_181882.3(PRX):c.138G>A (p.Glu46=)
|
rs1477884504
|
|
NM_181882.3(PRX):c.1400A>G (p.Glu467Gly)
|
rs2079445212
|
|
NM_181882.3(PRX):c.1401G>A (p.Glu467=)
|
rs572962587
|
|
NM_181882.3(PRX):c.1404G>A (p.Val468=)
|
|
|
NM_181882.3(PRX):c.1404_1481del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1])
|
|
|
NM_181882.3(PRX):c.140T>C (p.Leu47Pro)
|
|
|
NM_181882.3(PRX):c.1410C>G (p.Leu470=)
|
|
|
NM_181882.3(PRX):c.1416G>A (p.Lys472=)
|
|
|
NM_181882.3(PRX):c.144C>T (p.Arg48=)
|
|
|
NM_181882.3(PRX):c.1450A>G (p.Met484Val)
|
rs1462275457
|
|
NM_181882.3(PRX):c.1466T>A (p.Val489Glu)
|
rs1484709871
|
|
NM_181882.3(PRX):c.1467G>T (p.Val489=)
|
|
|
NM_181882.3(PRX):c.1473T>C (p.Leu491=)
|
|
|
NM_181882.3(PRX):c.1482A>G (p.Val494=)
|
|
|
NM_181882.3(PRX):c.1483_1560del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1])
|
rs1555801137
|
|
NM_181882.3(PRX):c.1483_1560dup (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[3])
|
rs1555801137
|
|
NM_181882.3(PRX):c.1490C>A (p.Pro497His)
|
rs1167411868
|
|
NM_181882.3(PRX):c.1491C>G (p.Pro497=)
|
rs1224453835
|
|
NM_181882.3(PRX):c.1495G>T (p.Val499Leu)
|
|
|
NM_181882.3(PRX):c.1497G>A (p.Val499=)
|
rs2145730703
|
|
NM_181882.3(PRX):c.1500_1577del (p.Leu523_Leu548del)
|
rs2079442701
|
|
NM_181882.3(PRX):c.1515A>G (p.Pro505=)
|
rs1234698192
|
|
NM_181882.3(PRX):c.151T>C (p.Ser51Pro)
|
rs1462393547
|
|
NM_181882.3(PRX):c.1523C>T (p.Pro508Leu)
|
|
|
NM_181882.3(PRX):c.1547G>A (p.Arg516Gln)
|
rs1035002145
|
|
NM_181882.3(PRX):c.1549C>T (p.Leu517Phe)
|
rs2079443162
|
|
NM_181882.3(PRX):c.1552_1562delinsT (p.Pro518fs)
|
|
|
NM_181882.3(PRX):c.1558G>A (p.Val520Ile)
|
rs2079443099
|
|
NM_181882.3(PRX):c.1568_1645del (p.Leu523_Leu548del)
|
|
|
NM_181882.3(PRX):c.1568_1645dup (p.Leu523_Leu548dup)
|
|
|
NM_181882.3(PRX):c.1568_1723del (p.Leu523_Leu574del)
|
rs2079440442
|
|
NM_181882.3(PRX):c.1574del (p.Val525fs)
|
rs752095452
|
|
NM_181882.3(PRX):c.1578_1601dup (p.Lys529_Met536dup)
|
rs764208864
|
|
NM_181882.3(PRX):c.158C>A (p.Ala53Asp)
|
rs753322071
|
|
NM_181882.3(PRX):c.1594_1671dup (p.Lys532_Pro557dup)
|
rs2079441294
|
|
NM_181882.3(PRX):c.1596G>A (p.Lys532=)
|
rs751136125
|
|
NM_181882.3(PRX):c.159C>G (p.Ala53=)
|
rs763507069
|
|
NM_181882.3(PRX):c.1613T>C (p.Val538Ala)
|
rs765791679
|
|
NM_181882.3(PRX):c.1613T>G (p.Val538Gly)
|
|
|
NM_181882.3(PRX):c.1617G>A (p.Pro539=)
|
|
|
NM_181882.3(PRX):c.1620G>A (p.Glu540=)
|
|
|
NM_181882.3(PRX):c.1621G>A (p.Val541Met)
|
rs764542785
|
|
NM_181882.3(PRX):c.1627C>T (p.Leu543Phe)
|
rs1370468682
|
|
NM_181882.3(PRX):c.1638_1715del (p.Ser552_Val577del)
|
rs2079440653
|
|
NM_181882.3(PRX):c.1646C>G (p.Pro549Arg)
|
rs150582069
|
|
NM_181882.3(PRX):c.1647G>A (p.Pro549=)
|
|
|
NM_181882.3(PRX):c.1657del (p.Glu553fs)
|
|
|
NM_181882.3(PRX):c.1658A>G (p.Glu553Gly)
|
rs879254301
|
|
NM_181882.3(PRX):c.1659_1660del (p.Glu553fs)
|
rs2079441396
|
|
NM_181882.3(PRX):c.165_177dup (p.Gln60fs)
|
rs1599662669
|
|
NM_181882.3(PRX):c.1664A>G (p.Lys555Arg)
|
rs2145730296
|
|
NM_181882.3(PRX):c.1666_1743del (p.Leu556_Lys581del)
|
rs1599654291
|
|
NM_181882.3(PRX):c.1667T>A (p.Leu556His)
|
rs2079441335
|
|
NM_181882.3(PRX):c.1670C>T (p.Pro557Leu)
|
rs1419440307
|
|
NM_181882.3(PRX):c.1680A>C (p.Ser560=)
|
rs1194012098
|
|
NM_181882.3(PRX):c.168C>T (p.Ser56=)
|
|
|
NM_181882.3(PRX):c.1695A>G (p.Pro565=)
|
rs1000191235
|
|
NM_181882.3(PRX):c.1696G>C (p.Glu566Gln)
|
rs2079440933
|
|
NM_181882.3(PRX):c.1708C>G (p.Pro570Ala)
|
rs2145730168
|
|
NM_181882.3(PRX):c.1711G>A (p.Glu571Lys)
|
|
|
NM_181882.3(PRX):c.1716G>A (p.Val572=)
|
rs184025564
|
|
NM_181882.3(PRX):c.1718A>G (p.Gln573Arg)
|
rs1289149165
|
|
NM_181882.3(PRX):c.1722_1723delinsCA (p.Pro575Thr)
|
rs2079440418
|
|
NM_181882.3(PRX):c.1724C>T (p.Pro575Leu)
|
rs201829675
|
|
NM_181882.3(PRX):c.1725G>A (p.Pro575=)
|
rs1043949955
|
|
NM_181882.3(PRX):c.1728A>G (p.Lys576=)
|
|
|
NM_181882.3(PRX):c.1746C>T (p.Val582=)
|
rs946852986
|
|
NM_181882.3(PRX):c.1750G>C (p.Glu584Gln)
|
rs2079440126
|
|
NM_181882.3(PRX):c.1759C>T (p.Leu587Phe)
|
rs773206299
|
|
NM_181882.3(PRX):c.1767G>A (p.Lys589=)
|
|
|
NM_181882.3(PRX):c.1768G>A (p.Val590Met)
|
rs1278199971
|
|
NM_181882.3(PRX):c.176T>C (p.Leu59Pro)
|
rs748318191
|
|
NM_181882.3(PRX):c.1775A>C (p.Glu592Ala)
|
|
|
NM_181882.3(PRX):c.178C>A (p.Gln60Lys)
|
|
|
NM_181882.3(PRX):c.17G>T (p.Arg6Leu)
|
rs774078598
|
|
NM_181882.3(PRX):c.1806A>G (p.Glu602=)
|
rs527537921
|
|
NM_181882.3(PRX):c.1813C>T (p.Leu605Phe)
|
rs1555801070
|
|
NM_181882.3(PRX):c.1818G>A (p.Pro606=)
|
rs768022787
|
|
NM_181882.3(PRX):c.184+11C>T
|
|
|
NM_181882.3(PRX):c.184+13G>A
|
|
|
NM_181882.3(PRX):c.184+19T>G
|
|
|
NM_181882.3(PRX):c.184+2T>A
|
rs2079511684
|
|
NM_181882.3(PRX):c.184+2T>C
|
rs2079511684
|
|
NM_181882.3(PRX):c.184+9G>C
|
|
|
NM_181882.3(PRX):c.1845T>C (p.Asp615=)
|
|
|
NM_181882.3(PRX):c.184G>A (p.Gly62Arg)
|
rs1205438395
|
|
NM_181882.3(PRX):c.185-11C>A
|
|
|
NM_181882.3(PRX):c.185-13A>T
|
|
|
NM_181882.3(PRX):c.185-4G>T
|
rs1322328826
|
|
NM_181882.3(PRX):c.185-5C>T
|
|
|
NM_181882.3(PRX):c.185-9C>T
|
rs1555801635
|
|
NM_181882.3(PRX):c.1851C>T (p.His617=)
|
rs2145729833
|
|
NM_181882.3(PRX):c.1857A>G (p.Pro619=)
|
rs779898963
|
|
NM_181882.3(PRX):c.1859A>G (p.Glu620Gly)
|
rs1395113048
|
|
NM_181882.3(PRX):c.1860_2123dup (p.Val714_Cys715insProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysVal)
|
|
|
NM_181882.3(PRX):c.1868T>G (p.Leu623Arg)
|
rs2079438528
|
|
NM_181882.3(PRX):c.1869_1976del (p.Glu633_Pro668del)
|
rs2079436631
|
|
NM_181882.3(PRX):c.1887G>T (p.Met629Ile)
|
|
|
NM_181882.3(PRX):c.1898A>T (p.Glu633Val)
|
rs1599654002
|
|
NM_181882.3(PRX):c.1900_1914del (p.629MKLPE[1])
|
rs575492732
|
|
NM_181882.3(PRX):c.1912G>A (p.Glu638Lys)
|
rs2145729705
|
|
NM_181882.3(PRX):c.191A>G (p.Gln64Arg)
|
|
|
NM_181882.3(PRX):c.1938G>A (p.Glu646=)
|
|
|
NM_181882.3(PRX):c.1942G>T (p.Ala648Ser)
|
rs950524654
|
|
NM_181882.3(PRX):c.1947G>A (p.Val649=)
|
rs2145729571
|
|
NM_181882.3(PRX):c.1950C>G (p.Pro650=)
|
|
|
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)
|
rs3814290
|
|
NM_181882.3(PRX):c.1953T>C (p.Asp651=)
|
|
|
NM_181882.3(PRX):c.1955T>C (p.Val652Ala)
|
rs963617308
|
|
NM_181882.3(PRX):c.1956G>A (p.Val652=)
|
|
|
NM_181882.3(PRX):c.1959C>A (p.His653Gln)
|
rs760652185
|
|
NM_181882.3(PRX):c.1979C>G (p.Pro660Arg)
|
rs748737580
|
|
NM_181882.3(PRX):c.1980G>A (p.Pro660=)
|
rs777413169
|
|
NM_181882.3(PRX):c.1980G>T (p.Pro660=)
|
rs777413169
|
|
NM_181882.3(PRX):c.1986C>T (p.Val662=)
|
rs1279008110
|
|
NM_181882.3(PRX):c.1991A>G (p.Glu664Gly)
|
rs758728503
|
|
NM_181882.3(PRX):c.1999C>G (p.Leu667Val)
|
rs1599653741
|
|
NM_181882.3(PRX):c.1999del (p.Leu667fs)
|
|
|
NM_181882.3(PRX):c.200G>A (p.Ser67Asn)
|
rs1568710768
|
|
NM_181882.3(PRX):c.2028_2213dup (p.Glu677_Pro738dup)
|
rs2145728948
|
|
NM_181882.3(PRX):c.2032G>T (p.Val678Phe)
|
|
|
NM_181882.3(PRX):c.2033T>C (p.Val678Ala)
|
rs1568706919
|
|
NM_181882.3(PRX):c.2037A>T (p.Arg679=)
|
rs2145729366
|
|
NM_181882.3(PRX):c.2050C>T (p.Gln684Ter)
|
rs1252279085
|
|
NM_181882.3(PRX):c.205C>T (p.Arg69Ter)
|
rs2079467367
|
|
NM_181882.3(PRX):c.2067A>G (p.Ser689=)
|
|
|
NM_181882.3(PRX):c.2077C>G (p.Leu693Val)
|
rs758696889
|
|
NM_181882.3(PRX):c.2088G>A (p.Val696=)
|
rs1053269682
|
|
NM_181882.3(PRX):c.2106C>G (p.Pro702=)
|
rs183461864
|
|
NM_181882.3(PRX):c.2107G>C (p.Asp703His)
|
rs756173103
|
|
NM_181882.3(PRX):c.2113C>T (p.His705Tyr)
|
rs2079434434
|
|
NM_181882.3(PRX):c.2115C>G (p.His705Gln)
|
|
|
NM_181882.3(PRX):c.2120C>G (p.Pro707Arg)
|
|
|
NM_181882.3(PRX):c.2127G>A (p.Val709=)
|
|
|
NM_181882.3(PRX):c.2134C>T (p.Pro712Ser)
|
rs1463490551
|
|
NM_181882.3(PRX):c.2152A>G (p.Lys718Glu)
|
rs2079433906
|
|
NM_181882.3(PRX):c.2158C>T (p.Pro720Ser)
|
rs1599653417
|
|
NM_181882.3(PRX):c.2176G>A (p.Glu726Lys)
|
|
|
NM_181882.3(PRX):c.2178G>A (p.Glu726=)
|
rs761322510
|
|
NM_181882.3(PRX):c.2180_2181del (p.Ile727fs)
|
|
|
NM_181882.3(PRX):c.2184A>G (p.Lys728=)
|
rs2145729003
|
|
NM_181882.3(PRX):c.2185C>T (p.Leu729Phe)
|
rs2079433471
|
|
NM_181882.3(PRX):c.2190C>T (p.Pro730=)
|
rs1336238948
|
|
NM_181882.3(PRX):c.2202G>A (p.Glu734=)
|
|
|
NM_181882.3(PRX):c.2215G>A (p.Asp739Asn)
|
rs779294844
|
|
NM_181882.3(PRX):c.2217T>C (p.Asp739=)
|
|
|
NM_181882.3(PRX):c.2227C>T (p.Pro743Ser)
|
|
|
NM_181882.3(PRX):c.2229C>G (p.Pro743=)
|
|
|
NM_181882.3(PRX):c.222C>T (p.Asn74=)
|
|
|
NM_181882.3(PRX):c.2241G>A (p.Leu747=)
|
|
|
NM_181882.3(PRX):c.2243C>G (p.Pro748Arg)
|
rs111252437
|
|
NM_181882.3(PRX):c.2245A>G (p.Lys749Glu)
|
rs755014286
|
|
NM_181882.3(PRX):c.2247A>G (p.Lys749=)
|
|
|
NM_181882.3(PRX):c.225C>T (p.Phe75=)
|
|
|
NM_181882.3(PRX):c.2261G>A (p.Arg754Gln)
|
rs760071236
|
|
NM_181882.3(PRX):c.2261G>T (p.Arg754Leu)
|
|
|
NM_181882.3(PRX):c.227A>G (p.Lys76Arg)
|
|
|
NM_181882.3(PRX):c.2281C>T (p.Pro761Ser)
|
rs1430642282
|
|
NM_181882.3(PRX):c.2282C>G (p.Pro761Arg)
|
rs530370432
|
|
NM_181882.3(PRX):c.2289del (p.Asp765fs)
|
rs797045102
|
|
NM_181882.3(PRX):c.2292C>G (p.Pro764=)
|
rs142637195
|
|
NM_181882.3(PRX):c.2292C>T (p.Pro764=)
|
rs142637195
|
|
NM_181882.3(PRX):c.2293G>A (p.Asp765Asn)
|
rs541455813
|
|
NM_181882.3(PRX):c.2293G>T (p.Asp765Tyr)
|
rs541455813
|
|
NM_181882.3(PRX):c.2301del (p.Leu768fs)
|
|
|
NM_181882.3(PRX):c.2305C>T (p.Pro769Ser)
|
|
|
NM_181882.3(PRX):c.2311G>C (p.Ala771Pro)
|
rs1568706134
|
|
NM_181882.3(PRX):c.2312C>T (p.Ala771Val)
|
|
|
NM_181882.3(PRX):c.2317G>C (p.Glu773Gln)
|
|
|
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)
|
rs752192677
|
|
NM_181882.3(PRX):c.231C>G (p.Tyr77Ter)
|
rs752192677
|
|
NM_181882.3(PRX):c.231C>T (p.Tyr77=)
|
rs752192677
|
|
NM_181882.3(PRX):c.2330C>G (p.Pro777Arg)
|
rs2079431092
|
|
NM_181882.3(PRX):c.2331C>T (p.Pro777=)
|
|
|
NM_181882.3(PRX):c.2332A>G (p.Arg778Gly)
|
rs2079431069
|
|
NM_181882.3(PRX):c.2355G>A (p.Lys785=)
|
rs2145728615
|
|
NM_181882.3(PRX):c.2362A>T (p.Lys788Ter)
|
|
|
NM_181882.3(PRX):c.236A>T (p.Asp79Val)
|
rs2079466924
|
|
NM_181882.3(PRX):c.2372_2392del (p.Gln791_Gly798delinsArg)
|
|
|
NM_181882.3(PRX):c.2374G>T (p.Ala792Ser)
|
|
|
NM_181882.3(PRX):c.238G>T (p.Ala80Ser)
|
|
|
NM_181882.3(PRX):c.2399A>G (p.Lys800Arg)
|
rs2145728557
|
|
NM_181882.3(PRX):c.2400G>A (p.Lys800=)
|
rs2079430394
|
|
NM_181882.3(PRX):c.2419C>T (p.Pro807Ser)
|
|
|
NM_181882.3(PRX):c.2440T>C (p.Ser814Pro)
|
rs201809431
|
|
NM_181882.3(PRX):c.2447C>T (p.Ser816Leu)
|
rs556698543
|
|
NM_181882.3(PRX):c.2456A>G (p.Lys819Arg)
|
rs2079429870
|
|
NM_181882.3(PRX):c.2485G>C (p.Gly829Arg)
|
|
|
NM_181882.3(PRX):c.248T>G (p.Leu83Arg)
|
rs1599657876
|
|
NM_181882.3(PRX):c.24C>T (p.Ala8=)
|
|
|
NM_181882.3(PRX):c.2509C>G (p.Leu837Val)
|
|
|
NM_181882.3(PRX):c.2509C>T (p.Leu837=)
|
rs1177784082
|
|
NM_181882.3(PRX):c.2582T>G (p.Leu861Arg)
|
rs1192034174
|
|
NM_181882.3(PRX):c.2599C>A (p.Leu867Met)
|
rs2079428174
|
|
NM_181882.3(PRX):c.2605G>A (p.Gly869Arg)
|
rs1555800819
|
|
NM_181882.3(PRX):c.2630G>T (p.Gly877Val)
|
|
|
NM_181882.3(PRX):c.2637A>G (p.Gly879=)
|
|
|
NM_181882.3(PRX):c.2641C>A (p.Arg881=)
|
rs375201649
|
|
NM_181882.3(PRX):c.2641C>T (p.Arg881Trp)
|
rs375201649
|
|
NM_181882.3(PRX):c.2645_2646inv (p.Val882Ala)
|
|
|
NM_181882.3(PRX):c.2651G>A (p.Gly884Asp)
|
rs139005780
|
|
NM_181882.3(PRX):c.2652C>T (p.Gly884=)
|
rs768242642
|
|
NM_181882.3(PRX):c.2666C>A (p.Ala889Glu)
|
rs2145728054
|
|
NM_181882.3(PRX):c.2672T>G (p.Val891Gly)
|
|
|
NM_181882.3(PRX):c.27+12C>A
|
|
|
NM_181882.3(PRX):c.27+12C>T
|
rs376353333
|
|
NM_181882.3(PRX):c.27+15G>A
|
|
|
NM_181882.3(PRX):c.27+19T>C
|
rs534546929
|
|
NM_181882.3(PRX):c.2700T>C (p.Ser900=)
|
|
|
NM_181882.3(PRX):c.2728G>C (p.Ala910Pro)
|
rs145203783
|
|
NM_181882.3(PRX):c.2744A>T (p.Glu915Val)
|
rs899773763
|
|
NM_181882.3(PRX):c.2750G>A (p.Arg917Gln)
|
|
|
NM_181882.3(PRX):c.2784T>C (p.Ser928=)
|
rs766519481
|
|
NM_181882.3(PRX):c.2787del (p.Lys930fs)
|
rs754521978
|
|
NM_181882.3(PRX):c.2793C>T (p.Phe931=)
|
rs750559680
|
|
NM_181882.3(PRX):c.28-13C>T
|
|
|
NM_181882.3(PRX):c.28-14G>A
|
|
|
NM_181882.3(PRX):c.28-20C>T
|
rs757487813
|
|
NM_181882.3(PRX):c.28-4G>A
|
|
|
NM_181882.3(PRX):c.2801C>T (p.Pro934Leu)
|
|
|
NM_181882.3(PRX):c.2810G>T (p.Gly937Val)
|
|
|
NM_181882.3(PRX):c.2815_2816del (p.Ser939fs)
|
rs2145727806
|
|
NM_181882.3(PRX):c.2816C>G (p.Ser939Trp)
|
rs761769929
|
|
NM_181882.3(PRX):c.2819G>A (p.Gly940Glu)
|
rs1322545345
|
|
NM_181882.3(PRX):c.281_283del (p.Phe94del)
|
rs1424434006
|
|
NM_181882.3(PRX):c.2827G>A (p.Val943Met)
|
rs1255146621
|
|
NM_181882.3(PRX):c.2843C>G (p.Ala948Gly)
|
rs2079424981
|
|
NM_181882.3(PRX):c.2853dup (p.Gly952fs)
|
rs1568704829
|
|
NM_181882.3(PRX):c.2854G>C (p.Gly952Arg)
|
rs1060502972
|
|
NM_181882.3(PRX):c.2876T>C (p.Val959Ala)
|
rs1568704784
|
|
NM_181882.3(PRX):c.2888C>T (p.Ala963Val)
|
rs1187783058
|
|
NM_181882.3(PRX):c.2898C>T (p.Leu966=)
|
|
|
NM_181882.3(PRX):c.2905G>C (p.Ala969Pro)
|
|
|
NM_181882.3(PRX):c.2910G>A (p.Arg970=)
|
|
|
NM_181882.3(PRX):c.2913G>A (p.Val971=)
|
rs1599652077
|
|
NM_181882.3(PRX):c.2913G>T (p.Val971=)
|
rs1599652077
|
|
NM_181882.3(PRX):c.2916G>T (p.Gly972=)
|
rs1555800751
|
|
NM_181882.3(PRX):c.2921_2941del (p.Glu974_Ala980del)
|
rs748965299
|
|
NM_181882.3(PRX):c.2928G>A (p.Glu976=)
|
|
|
NM_181882.3(PRX):c.2939C>A (p.Ala980Asp)
|
rs2079423739
|
|
NM_181882.3(PRX):c.2942G>A (p.Gly981Glu)
|
rs1568704659
|
|
NM_181882.3(PRX):c.2942G>T (p.Gly981Val)
|
rs1568704659
|
|
NM_181882.3(PRX):c.2960C>T (p.Pro987Leu)
|
|
|
NM_181882.3(PRX):c.296C>T (p.Thr99Ile)
|
rs561203828
|
|
NM_181882.3(PRX):c.2977A>T (p.Ile993Phe)
|
rs1234629496
|
|
NM_181882.3(PRX):c.2986C>T (p.Leu996Phe)
|
|
|
NM_181882.3(PRX):c.2993_3000del (p.Leu998fs)
|
rs1231723888
|
|
NM_181882.3(PRX):c.2995G>C (p.Asp999His)
|
|
|
NM_181882.3(PRX):c.3011C>T (p.Ser1004Leu)
|
rs996865233
|
|
NM_181882.3(PRX):c.3028G>A (p.Ala1010Thr)
|
rs2079422267
|
|
NM_181882.3(PRX):c.302C>T (p.Pro101Leu)
|
rs1202652443
|
|
NM_181882.3(PRX):c.3036C>T (p.Ala1012=)
|
|
|
NM_181882.3(PRX):c.3050A>C (p.Lys1017Thr)
|
rs538922683
|
|
NM_181882.3(PRX):c.3054del (p.Arg1020fs)
|
|
|
NM_181882.3(PRX):c.3057C>G (p.Pro1019=)
|
rs1330286599
|
|
NM_181882.3(PRX):c.3060G>A (p.Arg1020=)
|
rs761267361
|
|
NM_181882.3(PRX):c.3090C>T (p.Gly1030=)
|
rs2145727261
|
|
NM_181882.3(PRX):c.3098del (p.Thr1033fs)
|
rs2145727241
|
|
NM_181882.3(PRX):c.3102G>A (p.Glu1034=)
|
rs774688060
|
|
NM_181882.3(PRX):c.3112C>T (p.Leu1038=)
|
|
|
NM_181882.3(PRX):c.311A>T (p.Asp104Val)
|
|
|
NM_181882.3(PRX):c.3120A>C (p.Pro1040=)
|
|
|
NM_181882.3(PRX):c.3130G>A (p.Glu1044Lys)
|
|
|
NM_181882.3(PRX):c.3133T>C (p.Leu1045=)
|
|
|
NM_181882.3(PRX):c.3142_3147del (p.Lys1048_Gly1049del)
|
rs764547883
|
|
NM_181882.3(PRX):c.3154T>C (p.Trp1052Arg)
|
|
|
NM_181882.3(PRX):c.3177C>G (p.Pro1059=)
|
rs2145727107
|
|
NM_181882.3(PRX):c.317C>T (p.Ala106Val)
|
rs2145734161
|
|
NM_181882.3(PRX):c.3190C>G (p.Pro1064Ala)
|
rs937051533
|
|
NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser)
|
rs937051533
|
|
NM_181882.3(PRX):c.3198del (p.Phe1066fs)
|
rs1599651549
|
|
NM_181882.3(PRX):c.320T>G (p.Leu107Arg)
|
|
|
NM_181882.3(PRX):c.3247_3248delinsTG (p.Pro1083Trp)
|
rs2079419662
|
|
NM_181882.3(PRX):c.3249G>A (p.Pro1083=)
|
|
|
NM_181882.3(PRX):c.3254A>G (p.Glu1085Gly)
|
|
|
NM_181882.3(PRX):c.3257A>G (p.Lys1086Arg)
|
|
|
NM_181882.3(PRX):c.3258G>T (p.Lys1086Asn)
|
|
|
NM_181882.3(PRX):c.3263A>G (p.Glu1088Gly)
|
rs758071572
|
|
NM_181882.3(PRX):c.3264G>A (p.Glu1088=)
|
|
|
NM_181882.3(PRX):c.3268A>C (p.Thr1090Pro)
|
|
|
NM_181882.3(PRX):c.3272C>T (p.Ala1091Val)
|
rs2145726879
|
|
NM_181882.3(PRX):c.3275del (p.Val1092fs)
|
|
|
NM_181882.3(PRX):c.3280C>T (p.Leu1094Phe)
|
rs2079418891
|
|
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs)
|
rs1555800610
|
|
NM_181882.3(PRX):c.3291C>T (p.Pro1097=)
|
|
|
NM_181882.3(PRX):c.3294G>A (p.Glu1098=)
|
rs1599651349
|
|
NM_181882.3(PRX):c.329G>A (p.Gly110Glu)
|
rs1309370142
|
|
NM_181882.3(PRX):c.3302T>C (p.Leu1101Pro)
|
|
|
NM_181882.3(PRX):c.3309G>A (p.Thr1103=)
|
rs557336965
|
|
NM_181882.3(PRX):c.3314G>C (p.Gly1105Ala)
|
|
|
NM_181882.3(PRX):c.3336A>G (p.Ala1112=)
|
rs779789272
|
|
NM_181882.3(PRX):c.3341G>T (p.Gly1114Val)
|
rs772043027
|
|
NM_181882.3(PRX):c.334G>A (p.Val112Met)
|
rs1374240096
|
|
NM_181882.3(PRX):c.3351_3352delinsTA (p.Val1118Ile)
|
rs2145726691
|
|
NM_181882.3(PRX):c.3352G>T (p.Val1118Phe)
|
rs143654708
|
|
NM_181882.3(PRX):c.3365A>G (p.Gln1122Arg)
|
rs1287415463
|
|
NM_181882.3(PRX):c.3371C>G (p.Ser1124Ter)
|
|
|
NM_181882.3(PRX):c.3379A>T (p.Lys1127Ter)
|
rs964195568
|
|
NM_181882.3(PRX):c.3387C>T (p.Ser1129=)
|
rs2145726595
|
|
NM_181882.3(PRX):c.3389C>G (p.Thr1130Arg)
|
rs2079417291
|
|
NM_181882.3(PRX):c.3393C>T (p.Ala1131=)
|
rs2145726580
|
|
NM_181882.3(PRX):c.3396G>C (p.Gly1132=)
|
rs2145726564
|
|
NM_181882.3(PRX):c.3400G>T (p.Val1134Leu)
|
rs786204203
|
|
NM_181882.3(PRX):c.3418G>A (p.Asp1140Asn)
|
rs1599651064
|
|
NM_181882.3(PRX):c.3445_3446insAGATGCCACCTGTG (p.Gly1149fs)
|
|
|
NM_181882.3(PRX):c.3447C>T (p.Gly1149=)
|
rs1599651000
|
|
NM_181882.3(PRX):c.344A>G (p.Tyr115Cys)
|
rs759570608
|
|
NM_181882.3(PRX):c.3453C>T (p.Ser1151=)
|
|
|
NM_181882.3(PRX):c.3459A>G (p.Pro1153=)
|
rs1599650963
|
|
NM_181882.3(PRX):c.3462G>C (p.Gln1154His)
|
rs374969898
|
|
NM_181882.3(PRX):c.3472A>C (p.Thr1158Pro)
|
|
|
NM_181882.3(PRX):c.3475G>C (p.Gly1159Arg)
|
|
|
NM_181882.3(PRX):c.3482G>A (p.Gly1161Glu)
|
|
|
NM_181882.3(PRX):c.3494C>T (p.Thr1165Ile)
|
rs2079415753
|
|
NM_181882.3(PRX):c.3502C>T (p.Gln1168Ter)
|
rs2145726269
|
|
NM_181882.3(PRX):c.3519A>C (p.Thr1173=)
|
rs567285703
|
|
NM_181882.3(PRX):c.3527CAG[1] (p.Ala1177del)
|
rs765351391
|
|
NM_181882.3(PRX):c.3531A>G (p.Ala1177=)
|
rs1465687338
|
|
NM_181882.3(PRX):c.3536G>A (p.Gly1179Asp)
|
rs1306056577
|
|
NM_181882.3(PRX):c.3537C>T (p.Gly1179=)
|
rs2079415063
|
|
NM_181882.3(PRX):c.353del (p.Lys118fs)
|
rs1568710514
|
|
NM_181882.3(PRX):c.3562C>T (p.Pro1188Ser)
|
rs878855284
|
|
NM_181882.3(PRX):c.3595G>C (p.Val1199Leu)
|
rs2145726058
|
|
NM_181882.3(PRX):c.35G>C (p.Arg12Thr)
|
|
|
NM_181882.3(PRX):c.3626G>C (p.Gly1209Ala)
|
|
|
NM_181882.3(PRX):c.3626dup (p.Val1210fs)
|
|
|
NM_181882.3(PRX):c.3637A>T (p.Met1213Leu)
|
|
|
NM_181882.3(PRX):c.3651A>G (p.Thr1217=)
|
rs2145725969
|
|
NM_181882.3(PRX):c.3672C>T (p.Asp1224=)
|
|
|
NM_181882.3(PRX):c.3681A>G (p.Leu1227=)
|
|
|
NM_181882.3(PRX):c.370G>A (p.Val124Met)
|
rs2079464852
|
|
NM_181882.3(PRX):c.3714A>C (p.Thr1238=)
|
|
|
NM_181882.3(PRX):c.3718G>A (p.Glu1240Lys)
|
|
|
NM_181882.3(PRX):c.3722G>A (p.Gly1241Asp)
|
rs139120811
|
|
NM_181882.3(PRX):c.3729G>A (p.Leu1243=)
|
|
|
NM_181882.3(PRX):c.3733C>T (p.Leu1245=)
|
|
|
NM_181882.3(PRX):c.3737A>G (p.Lys1246Arg)
|
rs2079412467
|
|
NM_181882.3(PRX):c.3738G>A (p.Lys1246=)
|
|
|
NM_181882.3(PRX):c.375C>T (p.Ala125=)
|
rs2145733991
|
|
NM_181882.3(PRX):c.3770G>T (p.Gly1257Val)
|
rs1424142560
|
|
NM_181882.3(PRX):c.3785A>G (p.Glu1262Gly)
|
rs2145725692
|
|
NM_181882.3(PRX):c.379C>T (p.Leu127=)
|
rs886054441
|
|
NM_181882.3(PRX):c.3801G>C (p.Gly1267=)
|
|
|
NM_181882.3(PRX):c.3802G>A (p.Ala1268Thr)
|
rs146061247
|
|
NM_181882.3(PRX):c.381+15C>T
|
|
|
NM_181882.3(PRX):c.381+16C>G
|
|
|
NM_181882.3(PRX):c.3810T>C (p.Arg1270=)
|
|
|
NM_181882.3(PRX):c.382-17C>T
|
rs889158287
|
|
NM_181882.3(PRX):c.382-19C>T
|
|
|
NM_181882.3(PRX):c.382-20C>T
|
|
|
NM_181882.3(PRX):c.3831C>G (p.Pro1277=)
|
rs577796628
|
|
NM_181882.3(PRX):c.3831C>T (p.Pro1277=)
|
rs577796628
|
|
NM_181882.3(PRX):c.3834C>T (p.Asp1278=)
|
|
|
NM_181882.3(PRX):c.3835G>C (p.Val1279Leu)
|
rs747247972
|
|
NM_181882.3(PRX):c.3846G>T (p.Ser1282=)
|
rs143289108
|
|
NM_181882.3(PRX):c.384C>T (p.Asn128=)
|
|
|
NM_181882.3(PRX):c.3856G>A (p.Gly1286Ser)
|
rs555523161
|
|
NM_181882.3(PRX):c.3859A>C (p.Asn1287His)
|
rs2145725536
|
|
NM_181882.3(PRX):c.3863A>T (p.His1288Leu)
|
rs1568702462
|
|
NM_181882.3(PRX):c.3867C>G (p.Ala1289=)
|
|
|
NM_181882.3(PRX):c.3867C>T (p.Ala1289=)
|
rs759245840
|
|
NM_181882.3(PRX):c.3868G>A (p.Glu1290Lys)
|
rs773955274
|
|
NM_181882.3(PRX):c.3868G>T (p.Glu1290Ter)
|
rs773955274
|
|
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter)
|
rs765769524
|
|
NM_181882.3(PRX):c.3890A>G (p.Glu1297Gly)
|
rs2049353803
|
|
NM_181882.3(PRX):c.3900C>G (p.Ala1300=)
|
rs757223803
|
|
NM_181882.3(PRX):c.3900C>T (p.Ala1300=)
|
|
|
NM_181882.3(PRX):c.3916G>A (p.Val1306Ile)
|
|
|
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro)
|
rs767394584
|
|
NM_181882.3(PRX):c.3935G>T (p.Gly1312Val)
|
rs764644013
|
|
NM_181882.3(PRX):c.3961G>A (p.Glu1321Lys)
|
rs748063094
|
|
NM_181882.3(PRX):c.3972G>A (p.Glu1324=)
|
rs2145725286
|
|
NM_181882.3(PRX):c.3985C>A (p.Pro1329Thr)
|
rs1337046069
|
|
NM_181882.3(PRX):c.3997C>T (p.Leu1333=)
|
rs2145725256
|
|
NM_181882.3(PRX):c.4004G>A (p.Arg1335Gln)
|
rs1384489319
|
|
NM_181882.3(PRX):c.4028T>C (p.Met1343Thr)
|
|
|
NM_181882.3(PRX):c.4030G>A (p.Val1344Ile)
|
rs2079407989
|
|
NM_181882.3(PRX):c.4035T>A (p.Thr1345=)
|
|
|
NM_181882.3(PRX):c.4048C>T (p.Pro1350Ser)
|
|
|
NM_181882.3(PRX):c.4050del (p.Ser1351fs)
|
rs766124869
|
|
NM_181882.3(PRX):c.4056C>T (p.Pro1352=)
|
|
|
NM_181882.3(PRX):c.4058A>C (p.Glu1353Ala)
|
rs1555800424
|
|
NM_181882.3(PRX):c.4059GGA[4] (p.Glu1359_Glu1361del)
|
rs139624657
|
|
NM_181882.3(PRX):c.4059GGA[5] (p.Glu1360_Glu1361del)
|
rs139624657
|
|
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del)
|
rs139624657
|
|
NM_181882.3(PRX):c.4059GGA[8] (p.Glu1361dup)
|
rs139624657
|
|
NM_181882.3(PRX):c.4059GGA[9] (p.Glu1360_Glu1361dup)
|
rs139624657
|
|
NM_181882.3(PRX):c.406A>G (p.Lys136Glu)
|
rs2079459199
|
|
NM_181882.3(PRX):c.407AGA[3] (p.Lys139del)
|
rs778666575
|
|
NM_181882.3(PRX):c.4088G>A (p.Ser1363Asn)
|
rs1197436795
|
|
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu)
|
rs748112276
|
|
NM_181882.3(PRX):c.4099dup (p.Ala1367fs)
|
rs768199280
|
|
NM_181882.3(PRX):c.4101C>T (p.Ala1367=)
|
|
|
NM_181882.3(PRX):c.4102_4117del (p.Ser1368fs)
|
rs1487409170
|
|
NM_181882.3(PRX):c.4108C>A (p.Arg1370Ser)
|
rs371438221
|
|
NM_181882.3(PRX):c.4108C>T (p.Arg1370Cys)
|
rs371438221
|
|
NM_181882.3(PRX):c.4109GCCGGG[3] (p.Arg1373_Val1374insGlyArg)
|
|
|
NM_181882.3(PRX):c.4110C>A (p.Arg1370=)
|
rs2145724978
|
|
NM_181882.3(PRX):c.4119GGTCCG[3] (p.1374VR[3])
|
rs748943829
|
|
NM_181882.3(PRX):c.4123C>T (p.Arg1375Trp)
|
rs1049231899
|
|
NM_181882.3(PRX):c.4124G>T (p.Arg1375Leu)
|
|
|
NM_181882.3(PRX):c.4131C>A (p.Arg1377=)
|
rs2145724900
|
|
NM_181882.3(PRX):c.4134G>A (p.Leu1378=)
|
rs2079406117
|
|
NM_181882.3(PRX):c.4169C>G (p.Ser1390Cys)
|
|
|
NM_181882.3(PRX):c.4171C>G (p.Arg1391Gly)
|
rs369072136
|
|
NM_181882.3(PRX):c.4171C>T (p.Arg1391Trp)
|
rs369072136
|
|
NM_181882.3(PRX):c.4172G>C (p.Arg1391Pro)
|
rs917161355
|
|
NM_181882.3(PRX):c.4173G>A (p.Arg1391=)
|
|
|
NM_181882.3(PRX):c.4176G>A (p.Gly1392=)
|
|
|
NM_181882.3(PRX):c.4183G>A (p.Gly1395Ser)
|
|
|
NM_181882.3(PRX):c.4185C>T (p.Gly1395=)
|
|
|
NM_181882.3(PRX):c.4196C>T (p.Pro1399Leu)
|
rs764183288
|
|
NM_181882.3(PRX):c.4205_4206dup (p.Val1403fs)
|
|
|
NM_181882.3(PRX):c.4207G>A (p.Val1403Ile)
|
rs139051512
|
|
NM_181882.3(PRX):c.4217_4218insTGATGCAGCCCCCAAGTCCCCCGTCAGAGAGAA (p.Glu1405_Lys1406insAsnAspAlaAlaProLysSerProValArgGlu)
|
|
|
NM_181882.3(PRX):c.4224C>G (p.Pro1408=)
|
rs1555800370
|
|
NM_181882.3(PRX):c.4232G>A (p.Arg1411His)
|
rs1005254872
|
|
NM_181882.3(PRX):c.4240A>G (p.Arg1414Gly)
|
rs2145724711
|
|
NM_181882.3(PRX):c.4251A>G (p.Leu1417=)
|
|
|
NM_181882.3(PRX):c.4253G>A (p.Ser1418Asn)
|
rs375802521
|
|
NM_181882.3(PRX):c.4267A>C (p.Ser1423Arg)
|
rs895345246
|
|
NM_181882.3(PRX):c.4268G>A (p.Ser1423Asn)
|
rs2145724650
|
|
NM_181882.3(PRX):c.4270G>A (p.Gly1424Arg)
|
rs754032938
|
|
NM_181882.3(PRX):c.4285G>A (p.Glu1429Lys)
|
rs2145724616
|
|
NM_181882.3(PRX):c.4288G>T (p.Glu1430Ter)
|
|
|
NM_181882.3(PRX):c.4300C>T (p.Arg1434Trp)
|
|
|
NM_181882.3(PRX):c.4304T>C (p.Val1435Ala)
|
rs878855285
|
|
NM_181882.3(PRX):c.4306C>T (p.Arg1436Trp)
|
rs1332674327
|
|
NM_181882.3(PRX):c.4316G>T (p.Ser1439Ile)
|
rs2079403599
|
|
NM_181882.3(PRX):c.4317C>A (p.Ser1439Arg)
|
rs372280596
|
|
NM_181882.3(PRX):c.4333A>T (p.Thr1445Ser)
|
rs368067072
|
|
NM_181882.3(PRX):c.4335A>G (p.Thr1445=)
|
|
|
NM_181882.3(PRX):c.4343C>T (p.Pro1448Leu)
|
|
|
NM_181882.3(PRX):c.4365G>A (p.Gly1455=)
|
rs2079402966
|
|
NM_181882.3(PRX):c.439G>A (p.Val147Ile)
|
|
|
NM_181882.3(PRX):c.444C>G (p.Pro148=)
|
rs765210929
|
|
NM_181882.3(PRX):c.458del (p.Pro153fs)
|
rs1599656851
|
|
NM_181882.3(PRX):c.461T>C (p.Val154Ala)
|
rs1555801518
|
|
NM_181882.3(PRX):c.464A>T (p.Asp155Val)
|
rs2079458431
|
|
NM_181882.3(PRX):c.466G>T (p.Val156Phe)
|
rs562267802
|
|
NM_181882.3(PRX):c.469G>A (p.Glu157Lys)
|
rs149219327
|
|
NM_181882.3(PRX):c.474C>T (p.Phe158=)
|
rs1286146998
|
|
NM_181882.3(PRX):c.478_492del (p.Phe160_Ser164del)
|
rs1555801508
|
|
NM_181882.3(PRX):c.479T>C (p.Phe160Ser)
|
rs2079458015
|
|
NM_181882.3(PRX):c.489C>T (p.Phe163=)
|
rs2145732977
|
|
NM_181882.3(PRX):c.500G>A (p.Arg167His)
|
rs757322355
|
|
NM_181882.3(PRX):c.509T>C (p.Leu170Pro)
|
rs1387520113
|
|
NM_181882.3(PRX):c.551C>G (p.Ala184Gly)
|
rs951064135
|
|
NM_181882.3(PRX):c.560G>A (p.Arg187His)
|
|
|
NM_181882.3(PRX):c.573T>A (p.Pro191=)
|
|
|
NM_181882.3(PRX):c.577C>T (p.Leu193=)
|
rs1007677763
|
|
NM_181882.3(PRX):c.586C>A (p.Arg196=)
|
|
|
NM_181882.3(PRX):c.586C>G (p.Arg196Gly)
|
rs104894706
|
|
NM_181882.3(PRX):c.586C>T (p.Arg196Ter)
|
rs104894706
|
|
NM_181882.3(PRX):c.587G>A (p.Arg196Gln)
|
rs757381967
|
|
NM_181882.3(PRX):c.587G>C (p.Arg196Pro)
|
rs757381967
|
|
NM_181882.3(PRX):c.594G>T (p.Val198=)
|
|
|
NM_181882.3(PRX):c.597C>A (p.Ala199=)
|
|
|
NM_181882.3(PRX):c.597C>G (p.Ala199=)
|
rs144157275
|
|
NM_181882.3(PRX):c.598G>C (p.Glu200Gln)
|
rs767207935
|
|
NM_181882.3(PRX):c.604G>T (p.Ala202Ser)
|
rs759241041
|
|
NM_181882.3(PRX):c.607C>T (p.Gln203Ter)
|
rs2079456028
|
|
NM_181882.3(PRX):c.615_616delinsTT (p.Arg206Trp)
|
rs1568709522
|
|
NM_181882.3(PRX):c.616C>T (p.Arg206Trp)
|
|
|
NM_181882.3(PRX):c.627del (p.Ala210fs)
|
rs1599656507
|
|
NM_181882.3(PRX):c.630C>T (p.Ala210=)
|
|
|
NM_181882.3(PRX):c.631G>A (p.Ala211Thr)
|
rs112973322
|
|
NM_181882.3(PRX):c.631G>T (p.Ala211Ser)
|
rs112973322
|
|
NM_181882.3(PRX):c.641C>A (p.Pro214His)
|
rs368874138
|
|
NM_181882.3(PRX):c.642C>G (p.Pro214=)
|
|
|
NM_181882.3(PRX):c.642dup (p.Arg215fs)
|
rs768074428
|
|
NM_181882.3(PRX):c.655G>A (p.Val219Met)
|
|
|
NM_181882.3(PRX):c.666G>A (p.Glu222=)
|
rs2145732499
|
|
NM_181882.3(PRX):c.682C>G (p.Arg228Gly)
|
rs751238438
|
|
NM_181882.3(PRX):c.682C>T (p.Arg228Cys)
|
rs751238438
|
|
NM_181882.3(PRX):c.700G>A (p.Val234Met)
|
|
|
NM_181882.3(PRX):c.703G>A (p.Glu235Lys)
|
rs2079454238
|
|
NM_181882.3(PRX):c.705G>T (p.Glu235Asp)
|
rs2079454196
|
|
NM_181882.3(PRX):c.706C>T (p.Leu236=)
|
|
|
NM_181882.3(PRX):c.717G>T (p.Pro239=)
|
rs761293957
|
|
NM_181882.3(PRX):c.730G>A (p.Ala244Thr)
|
rs771211272
|
|
NM_181882.3(PRX):c.730G>T (p.Ala244Ser)
|
rs771211272
|
|
NM_181882.3(PRX):c.731C>A (p.Ala244Glu)
|
rs118071705
|
|
NM_181882.3(PRX):c.735G>A (p.Glu245=)
|
|
|
NM_181882.3(PRX):c.740G>A (p.Gly247Asp)
|
rs1568709200
|
|
NM_181882.3(PRX):c.744C>A (p.Val248=)
|
|
|
NM_181882.3(PRX):c.74C>A (p.Ala25Glu)
|
rs1555802182
|
|
NM_181882.3(PRX):c.761C>T (p.Pro254Leu)
|
rs748153822
|
|
NM_181882.3(PRX):c.768T>G (p.Ala256=)
|
|
|
NM_181882.3(PRX):c.771C>T (p.Ala257=)
|
rs1555801357
|
|
NM_181882.3(PRX):c.773C>A (p.Pro258His)
|
rs2079453076
|
|
NM_181882.3(PRX):c.773_774dup (p.Ser259fs)
|
rs1599656136
|
|
NM_181882.3(PRX):c.774C>A (p.Pro258=)
|
|
|
NM_181882.3(PRX):c.786A>C (p.Ala262=)
|
|
|
NM_181882.3(PRX):c.800C>T (p.Ala267Val)
|
rs1030892757
|
|
NM_181882.3(PRX):c.805C>T (p.His269Tyr)
|
|
|
NM_181882.3(PRX):c.819T>C (p.Leu273=)
|
|
|
NM_181882.3(PRX):c.81C>G (p.Thr27=)
|
|
|
NM_181882.3(PRX):c.821G>A (p.Gly274Glu)
|
rs2145732081
|
|
NM_181882.3(PRX):c.822G>T (p.Gly274=)
|
|
|
NM_181882.3(PRX):c.829G>T (p.Ala277Ser)
|
rs1458620221
|
|
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del)
|
rs2079451762
|
|
NM_181882.3(PRX):c.847G>T (p.Val283Leu)
|
|
|
NM_181882.3(PRX):c.861C>A (p.Ala287=)
|
rs535958285
|
|
NM_181882.3(PRX):c.861C>T (p.Ala287=)
|
rs535958285
|
|
NM_181882.3(PRX):c.862G>C (p.Val288Leu)
|
rs568618329
|
|
NM_181882.3(PRX):c.876C>T (p.Val292=)
|
|
|
NM_181882.3(PRX):c.886G>A (p.Glu296Lys)
|
rs2079451469
|
|
NM_181882.3(PRX):c.888G>A (p.Glu296=)
|
|
|
NM_181882.3(PRX):c.903C>G (p.Pro301=)
|
rs2145731882
|
|
NM_181882.3(PRX):c.904T>C (p.Ser302Pro)
|
|
|
NM_181882.3(PRX):c.914C>T (p.Thr305Ile)
|
|
|
NM_181882.3(PRX):c.917T>C (p.Leu306Pro)
|
|
|
NM_181882.3(PRX):c.925C>A (p.Leu309Ile)
|
|
|
NM_181882.3(PRX):c.930C>T (p.Pro310=)
|
rs1301252557
|
|
NM_181882.3(PRX):c.946G>C (p.Glu316Gln)
|
rs1555801306
|
|
NM_181882.3(PRX):c.956T>G (p.Val319Gly)
|
|
|
NM_181882.3(PRX):c.985G>A (p.Ala329Thr)
|
rs745593860
|
|