NM_016335.6(PRODH):c.1463A>G (p.Asn488Ser)
|
rs139903009
|
0.01565
|
NM_001010867.4(IBA57):c.264C>G (p.Ala88=)
|
rs13375853
|
0.01203
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_016335.6(PRODH):c.1173C>T (p.Ser391=)
|
rs3970556
|
0.00960
|
NM_003060.4(SLC22A5):c.-319C>A
|
rs60978556
|
0.00870
|
NM_000019.4(ACAT1):c.941-14C>T
|
rs12801620
|
0.00658
|
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)
|
rs114819130
|
0.00617
|
NM_003748.4(ALDH4A1):c.453+19C>T
|
rs201900829
|
0.00609
|
NM_003748.4(ALDH4A1):c.678+3G>A
|
rs138788183
|
0.00516
|
NM_005327.7(HADH):c.275T>G (p.Phe92Cys)
|
rs61735992
|
0.00516
|
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)
|
rs143097446
|
0.00471
|
NM_001918.5(DBT):c.1282-13_1282-9del
|
rs761681999
|
0.00456
|
NM_001739.2(CA5A):c.749A>G (p.Glu250Gly)
|
rs146136907
|
0.00428
|
NM_018706.7(DHTKD1):c.1079T>C (p.Val360Ala)
|
rs147571909
|
0.00424
|
NM_000687.4(AHCY):c.367G>A (p.Gly123Arg)
|
rs41301825
|
0.00406
|
NM_003748.4(ALDH4A1):c.453+17C>T
|
rs200675281
|
0.00367
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn)
|
rs144053672
|
0.00316
|
NM_016335.6(PRODH):c.1397C>T (p.Thr466Met)
|
rs2870984
|
0.00314
|
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)
|
rs34644609
|
0.00309
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)
|
rs140317484
|
0.00287
|
NM_054012.4(ASS1):c.622A>G (p.Thr208Ala)
|
rs62637575
|
0.00277
|
NM_002454.3(MTRR):c.1326C>T (p.Leu442=)
|
rs144781389
|
0.00274
|
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln)
|
rs149949619
|
0.00274
|
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser)
|
rs115328026
|
0.00266
|
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met)
|
rs61731903
|
0.00262
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr)
|
rs142099123
|
0.00261
|
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val)
|
rs185042766
|
0.00257
|
NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser)
|
rs146741810
|
0.00249
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln)
|
rs139645527
|
0.00242
|
NM_000137.4(FAH):c.1259G>A (p.Ter420=)
|
rs61747586
|
0.00241
|
NM_001024845.3(SLC6A9):c.1810G>A (p.Gly604Ser)
|
rs61733177
|
0.00241
|
NM_018706.7(DHTKD1):c.1832A>G (p.Gln611Arg)
|
rs147938299
|
0.00240
|
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)
|
rs139415285
|
0.00235
|
NM_005957.5(MTHFR):c.236+3A>G
|
rs1413355
|
0.00233
|
NM_000126.4(ETFA):c.186+7A>G
|
rs184587113
|
0.00231
|
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys)
|
rs148651921
|
0.00231
|
NM_152542.5(PPM1K):c.629G>A (p.Arg210Gln)
|
rs77538297
|
0.00225
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)
|
rs144751390
|
0.00219
|
NM_020686.6(ABAT):c.641T>C (p.Met214Thr)
|
rs149271402
|
0.00219
|
NM_003748.4(ALDH4A1):c.1385A>C (p.Lys462Thr)
|
rs150762865
|
0.00217
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val)
|
rs116577685
|
0.00213
|
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile)
|
rs76773981
|
0.00207
|
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)
|
rs151271754
|
0.00205
|
NM_000254.3(MTR):c.3337G>A (p.Ala1113Thr)
|
rs146071220
|
0.00203
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
NM_000329.3(RPE65):c.675C>G (p.Ile225Met)
|
rs114379164
|
0.00199
|
NM_002454.3(MTRR):c.857C>T (p.Thr286Met)
|
rs79430644
|
0.00198
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
NM_000170.3(GLDC):c.40C>A (p.Arg14Ser)
|
rs182760732
|
0.00197
|
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met)
|
rs76762510
|
0.00197
|
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser)
|
rs75525811
|
0.00196
|
NM_002454.3(MTRR):c.1982A>G (p.His661Arg)
|
rs148909799
|
0.00196
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)
|
rs114053717
|
0.00190
|
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys)
|
rs185863881
|
0.00187
|
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val)
|
rs142617551
|
0.00183
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)
|
rs148873419
|
0.00175
|
NM_001739.2(CA5A):c.655A>G (p.Thr219Ala)
|
rs148496007
|
0.00175
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_000159.4(GCDH):c.271+3G>A
|
rs75430014
|
0.00167
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
NM_002225.5(IVD):c.11C>T (p.Ala4Val)
|
rs148189323
|
0.00157
|
NM_018706.7(DHTKD1):c.443A>C (p.Lys148Thr)
|
rs141676270
|
0.00156
|
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)
|
rs148411623
|
0.00155
|
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser)
|
rs144230667
|
0.00154
|
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)
|
rs148601288
|
0.00153
|
NM_000687.4(AHCY):c.853C>T (p.Arg285Trp)
|
rs116846245
|
0.00152
|
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)
|
rs61747068
|
0.00152
|
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His)
|
rs149463053
|
0.00151
|
NM_016335.6(PRODH):c.21G>T (p.Leu7=)
|
rs539772713
|
0.00151
|
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)
|
rs141868117
|
0.00150
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu)
|
rs201612257
|
0.00145
|
NM_002454.3(MTRR):c.1544C>T (p.Ala515Val)
|
rs16879355
|
0.00145
|
NM_002150.3(HPD):c.498G>A (p.Met166Ile)
|
rs149081239
|
0.00141
|
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys)
|
rs137978109
|
0.00135
|
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys)
|
rs202128129
|
0.00134
|
NM_001370658.1(BTD):c.339G>A (p.Pro113=)
|
rs181743799
|
0.00133
|
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys)
|
rs147353781
|
0.00133
|
NM_006623.4(PHGDH):c.510+6A>G
|
rs371736796
|
0.00133
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
NM_001985.3(ETFB):c.521G>A (p.Arg174His)
|
rs141917423
|
0.00130
|
NM_000159.4(GCDH):c.1143C>T (p.Ile381=)
|
rs142553521
|
0.00128
|
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln)
|
rs140516872
|
0.00127
|
NM_016579.4(CD320):c.745C>T (p.Leu249Phe)
|
rs115054912
|
0.00126
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)
|
rs150149784
|
0.00124
|
NM_000187.4(HGD):c.919C>T (p.Arg307Cys)
|
rs143556739
|
0.00124
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys)
|
rs151092557
|
0.00122
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp)
|
rs138675420
|
0.00118
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn)
|
rs139364393
|
0.00116
|
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val)
|
rs150914629
|
0.00116
|
NM_012213.3(MLYCD):c.686G>A (p.Arg229His)
|
rs142117752
|
0.00114
|
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met)
|
rs139792723
|
0.00111
|
NM_000045.4(ARG1):c.953T>C (p.Leu318Pro)
|
rs73544627
|
0.00110
|
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser)
|
rs116118397
|
0.00110
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
NM_000281.4(PCBD1):c.263G>A (p.Arg88Gln)
|
rs115117837
|
0.00108
|
NM_201253.3(CRB1):c.484G>A (p.Val162Met)
|
rs137853138
|
0.00106
|
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile)
|
rs147358733
|
0.00105
|
NM_058179.4(PSAT1):c.884C>G (p.Pro295Arg)
|
rs148080212
|
0.00105
|
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys)
|
rs140747102
|
0.00104
|
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)
|
rs146668962
|
0.00104
|
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
|
rs144436610
|
0.00104
|
NM_001024845.3(SLC6A9):c.517G>A (p.Ala173Thr)
|
rs142642003
|
0.00103
|
NM_015662.3(IFT172):c.3530+7T>C
|
rs150882197
|
0.00103
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
NM_001482.3(GATM):c.69+13C>T
|
rs573273215
|
0.00101
|
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)
|
rs151275800
|
0.00101
|
NM_015662.3(IFT172):c.2787+20C>T
|
rs200344602
|
0.00100
|
NM_015662.3(IFT172):c.4274G>A (p.Gly1425Asp)
|
rs139560074
|
0.00099
|
NM_054012.4(ASS1):c.420+13T>G
|
rs201883474
|
0.00099
|
NM_000687.4(AHCY):c.219+7C>G
|
rs200332864
|
0.00098
|
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu)
|
rs143753228
|
0.00098
|
NM_000170.3(GLDC):c.1401+9A>G
|
rs75555848
|
0.00097
|
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)
|
rs141200145
|
0.00096
|
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)
|
rs150352833
|
0.00096
|
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)
|
rs200398000
|
0.00096
|
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala)
|
rs146099754
|
0.00096
|
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)
|
rs144899305
|
0.00096
|
NM_005050.4(ABCD4):c.518A>G (p.Tyr173Cys)
|
rs188205145
|
0.00096
|
NM_000170.3(GLDC):c.2964G>A (p.Arg988=)
|
rs146045718
|
0.00095
|
NM_000016.6(ACADM):c.994C>T (p.Leu332=)
|
rs138098371
|
0.00093
|
NM_001271.4(CHD2):c.2973+4A>G
|
rs202244266
|
0.00093
|
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln)
|
rs77477448
|
0.00093
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
NM_000137.4(FAH):c.1205G>A (p.Arg402His)
|
rs147796599
|
0.00092
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
NM_014251.3(SLC25A13):c.1311+3A>G
|
rs180844972
|
0.00092
|
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser)
|
rs116320983
|
0.00091
|
NM_001080.3(ALDH5A1):c.354+14G>A
|
rs572861590
|
0.00091
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)
|
rs3027884
|
0.00091
|
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met)
|
rs200164926
|
0.00091
|
NM_006623.4(PHGDH):c.1208A>G (p.Asn403Ser)
|
rs139827025
|
0.00091
|
NM_000026.4(ADSL):c.895A>G (p.Met299Val)
|
rs34396910
|
0.00090
|
NM_000360.4(TH):c.695+13T>C
|
rs373030101
|
0.00089
|
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg)
|
rs149414160
|
0.00089
|
NM_014384.3(ACAD8):c.211-20C>T
|
rs200508056
|
0.00089
|
NM_018706.7(DHTKD1):c.2722C>A (p.His908Asn)
|
rs140386798
|
0.00089
|
NM_000108.5(DLD):c.583-3C>T
|
rs186031819
|
0.00088
|
NM_001739.2(CA5A):c.214A>C (p.Arg72=)
|
rs150841082
|
0.00088
|
NM_012213.3(MLYCD):c.507G>A (p.Leu169=)
|
rs555482480
|
0.00088
|
NM_000282.4(PCCA):c.2040+11dup
|
rs779884567
|
0.00087
|
NM_015662.3(IFT172):c.2787+6G>A
|
rs75805075
|
0.00086
|
NM_018706.7(DHTKD1):c.2340A>G (p.Gln780=)
|
rs149564288
|
0.00086
|
NM_018706.7(DHTKD1):c.721A>T (p.Met241Leu)
|
rs149066296
|
0.00086
|
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)
|
rs143427811
|
0.00086
|
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)
|
rs77300588
|
0.00085
|
NM_018706.7(DHTKD1):c.1262A>G (p.Lys421Arg)
|
rs34033944
|
0.00084
|
NM_000048.4(ASL):c.1029C>T (p.Leu343=)
|
rs140532520
|
0.00083
|
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)
|
rs139063843
|
0.00083
|
NM_015662.3(IFT172):c.2264G>A (p.Arg755Gln)
|
rs78631901
|
0.00083
|
NM_016335.6(PRODH):c.42T>C (p.Ile14=)
|
rs761010757
|
0.00082
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
NM_000126.4(ETFA):c.6C>T (p.Phe2=)
|
rs749929239
|
0.00081
|
NM_000159.4(GCDH):c.471C>T (p.Ser157=)
|
rs146682905
|
0.00081
|
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
0.00081
|
NM_001875.5(CPS1):c.2192+6A>T
|
rs201058019
|
0.00081
|
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys)
|
rs114030714
|
0.00081
|
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile)
|
rs147304638
|
0.00081
|
NM_004975.4(KCNB1):c.1734G>C (p.Gly578=)
|
rs145456546
|
0.00081
|
NM_152542.5(PPM1K):c.708-5A>G
|
rs192622849
|
0.00081
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
NM_025136.4(OPA3):c.249G>C (p.Leu83=)
|
rs199692583
|
0.00080
|
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=)
|
rs200678234
|
0.00080
|
NM_000016.6(ACADM):c.645T>A (p.Ala215=)
|
rs147395095
|
0.00079
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00079
|
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=)
|
rs149521997
|
0.00079
|
NM_005327.7(HADH):c.614G>C (p.Gly205Ala)
|
rs144699575
|
0.00079
|
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)
|
rs148540696
|
0.00078
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
NM_002225.5(IVD):c.228C>T (p.Asn76=)
|
rs140098686
|
0.00078
|
NM_006623.4(PHGDH):c.291-18C>A
|
rs199604131
|
0.00078
|
NM_015662.3(IFT172):c.3186G>A (p.Val1062=)
|
rs143922405
|
0.00078
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
NM_002454.3(MTRR):c.446C>T (p.Ala149Val)
|
rs142714881
|
0.00077
|
NM_004937.3(CTNS):c.461+10del
|
rs377470989
|
0.00077
|
NM_014252.4(SLC25A15):c.564C>T (p.Phe188=)
|
rs141028076
|
0.00077
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr)
|
rs139310305
|
0.00076
|
NM_000353.3(TAT):c.929T>C (p.Val310Ala)
|
rs143213566
|
0.00076
|
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly)
|
rs535825137
|
0.00076
|
NM_004453.4(ETFDH):c.832-10T>G
|
rs200911913
|
0.00076
|
NM_005957.5(MTHFR):c.788A>C (p.His263Pro)
|
rs142612062
|
0.00076
|
NM_012213.3(MLYCD):c.1007A>G (p.Lys336Arg)
|
rs76841036
|
0.00075
|
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)
|
rs148962110
|
0.00075
|
NM_015506.3(MMACHC):c.798C>T (p.Ala266=)
|
rs201813445
|
0.00075
|
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)
|
rs138480247
|
0.00075
|
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr)
|
rs199745070
|
0.00074
|
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
|
rs139306043
|
0.00074
|
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)
|
rs144777709
|
0.00073
|
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser)
|
rs143068960
|
0.00073
|
NM_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)
|
rs377734902
|
0.00073
|
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr)
|
rs145641996
|
0.00073
|
NM_172250.3(MMAA):c.966A>G (p.Pro322=)
|
rs150692463
|
0.00073
|
NM_004937.3(CTNS):c.695G>A (p.Arg232His)
|
rs142641674
|
0.00072
|
NM_005881.4(BCKDK):c.717-15C>T
|
rs201213741
|
0.00072
|
NM_172250.3(MMAA):c.879A>G (p.Gly293=)
|
rs146352309
|
0.00072
|
NM_000281.4(PCBD1):c.216+18C>T
|
rs183906944
|
0.00071
|
NM_000282.4(PCCA):c.1896A>G (p.Thr632=)
|
rs61760965
|
0.00071
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=)
|
rs374052426
|
0.00070
|
NM_000329.3(RPE65):c.496-4G>A
|
rs138146176
|
0.00069
|
NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly)
|
rs148745414
|
0.00069
|
NM_001698.3(AUH):c.140C>T (p.Pro47Leu)
|
rs200564356
|
0.00068
|
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn)
|
rs150847674
|
0.00068
|
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln)
|
rs146332658
|
0.00068
|
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val)
|
rs144182725
|
0.00068
|
NM_152542.5(PPM1K):c.858T>G (p.His286Gln)
|
rs141441221
|
0.00068
|
NM_153006.3(NAGS):c.1302C>T (p.Pro434=)
|
rs150004962
|
0.00068
|
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val)
|
rs9448884
|
0.00068
|
NM_000071.3(CBS):c.1125C>T (p.Pro375=)
|
rs146180894
|
0.00067
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
NM_000687.4(AHCY):c.1008C>T (p.Ile336=)
|
rs139344907
|
0.00067
|
NM_001243279.3(ACSF3):c.823-4G>C
|
rs558325262
|
0.00067
|
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met)
|
rs116246250
|
0.00067
|
NM_001698.3(AUH):c.598+10A>C
|
rs186203318
|
0.00066
|
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe)
|
rs139926581
|
0.00066
|
NC_000022.11:g.40346167C>T
|
rs561082270
|
0.00064
|
NM_000191.3(HMGCL):c.663C>T (p.Val221=)
|
rs143884026
|
0.00064
|
NM_000254.3(MTR):c.2622G>A (p.Pro874=)
|
rs141919148
|
0.00064
|
NM_001024845.3(SLC6A9):c.528C>T (p.Ser176=)
|
rs139332952
|
0.00064
|
NM_002150.3(HPD):c.1038C>T (p.Leu346=)
|
rs145947530
|
0.00064
|
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=)
|
rs79157191
|
0.00064
|
NM_014362.4(HIBCH):c.36-13A>T
|
rs199859881
|
0.00064
|
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn)
|
rs142513139
|
0.00064
|
NM_201253.3(CRB1):c.1647T>C (p.Asn549=)
|
rs62636283
|
0.00064
|
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu)
|
rs145792427
|
0.00063
|
NM_004453.4(ETFDH):c.627T>C (p.Gly209=)
|
rs148708761
|
0.00063
|
NM_005881.4(BCKDK):c.1218G>A (p.Arg406=)
|
rs145180240
|
0.00063
|
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)
|
rs374403946
|
0.00062
|
NM_002454.3(MTRR):c.54C>T (p.Ile18=)
|
rs6413426
|
0.00062
|
NM_015702.3(MMADHC):c.741A>G (p.Glu247=)
|
rs146820547
|
0.00062
|
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)
|
rs35501596
|
0.00061
|
NM_000048.4(ASL):c.242T>C (p.Leu81Pro)
|
rs141046612
|
0.00061
|
NM_000182.5(HADHA):c.809C>T (p.Ala270Val)
|
rs141429393
|
0.00061
|
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)
|
rs11568513
|
0.00061
|
NM_015662.3(IFT172):c.786-12A>G
|
rs373665754
|
0.00061
|
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=)
|
rs1018475767
|
0.00061
|
NM_000187.4(HGD):c.1128C>G (p.Asp376Glu)
|
rs150145204
|
0.00060
|
NM_000282.4(PCCA):c.870C>T (p.Cys290=)
|
rs141174380
|
0.00060
|
NM_000360.4(TH):c.90+907A>G
|
rs1262784684
|
0.00060
|
NM_000554.6(CRX):c.28C>G (p.His10Asp)
|
rs139340178
|
0.00060
|
NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala)
|
rs142482046
|
0.00060
|
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)
|
rs150705788
|
0.00059
|
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=)
|
rs145155300
|
0.00059
|
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=)
|
rs376924663
|
0.00059
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
NM_001002755.4(NFU1):c.167-13T>G
|
rs181762580
|
0.00058
|
NM_001609.4(ACADSB):c.1228+8G>C
|
rs202191462
|
0.00058
|
NM_001875.5(CPS1):c.2025C>T (p.Ala675=)
|
rs143913650
|
0.00058
|
NM_003042.4(SLC6A1):c.801C>T (p.Gly267=)
|
rs150519659
|
0.00058
|
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
|
rs148616219
|
0.00058
|
NM_000048.4(ASL):c.399G>A (p.Ser133=)
|
rs141584041
|
0.00057
|
NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=)
|
rs776791710
|
0.00057
|
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala)
|
rs199793367
|
0.00057
|
NM_004975.4(KCNB1):c.2136G>A (p.Thr712=)
|
rs139458439
|
0.00057
|
NM_016335.6(PRODH):c.703C>T (p.Leu235Phe)
|
rs534685286
|
0.00057
|
NM_000017.4(ACADS):c.669G>A (p.Thr223=)
|
rs17848089
|
0.00056
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)
|
rs142141929
|
0.00056
|
NM_000360.4(TH):c.1398C>T (p.Ile466=)
|
rs118175546
|
0.00056
|
NM_001024845.3(SLC6A9):c.501T>C (p.Asn167=)
|
rs148755700
|
0.00056
|
NM_001243279.3(ACSF3):c.1614-10G>C
|
rs370941606
|
0.00056
|
NM_001370658.1(BTD):c.252T>C (p.Asp84=)
|
rs138545268
|
0.00056
|
NM_002454.3(MTRR):c.1058-16G>A
|
rs201644712
|
0.00056
|
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr)
|
rs149730454
|
0.00056
|
NM_020166.5(MCCC1):c.1160A>G (p.Tyr387Cys)
|
rs147116804
|
0.00056
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00056
|
NM_058179.4(PSAT1):c.445G>A (p.Val149Met)
|
rs142975997
|
0.00056
|
NM_012213.3(MLYCD):c.1236C>T (p.Arg412=)
|
rs370278897
|
0.00055
|
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe)
|
rs1800456
|
0.00054
|
NM_000360.4(TH):c.897C>T (p.Phe299=)
|
rs76719766
|
0.00054
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
NM_003060.4(SLC22A5):c.75C>T (p.Leu25=)
|
rs144054688
|
0.00054
|
NM_014384.3(ACAD8):c.110-17T>C
|
rs372435194
|
0.00054
|
NM_000709.4(BCKDHA):c.289-5C>T
|
rs200646708
|
0.00053
|
NM_000687.4(AHCY):c.29-16C>T
|
rs150128901
|
0.00052
|
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)
|
rs61736656
|
0.00052
|
NM_003060.4(SLC22A5):c.1341C>T (p.Tyr447=)
|
rs58188318
|
0.00052
|
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu)
|
rs139457557
|
0.00051
|
NM_000017.4(ACADS):c.1053C>T (p.Ala351=)
|
rs145594828
|
0.00051
|
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)
|
rs150518187
|
0.00051
|
NM_000071.3(CBS):c.531+19G>A
|
rs950515567
|
0.00051
|
NM_000071.3(CBS):c.829-14C>T
|
rs370697155
|
0.00051
|
NM_001024845.3(SLC6A9):c.1290C>T (p.Gly430=)
|
rs137855830
|
0.00051
|
NM_001243279.3(ACSF3):c.978-7C>T
|
rs190927208
|
0.00051
|
NM_002150.3(HPD):c.898C>A (p.Arg300=)
|
rs149281612
|
0.00051
|
NM_016579.4(CD320):c.722G>A (p.Ser241Asn)
|
rs140803270
|
0.00051
|
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00050
|
NM_000240.4(MAOA):c.1375-17T>C
|
rs368285679
|
0.00050
|
NM_000329.3(RPE65):c.117C>T (p.Thr39=)
|
rs143929144
|
0.00050
|
NM_000532.5(PCCB):c.603T>C (p.Ala201=)
|
rs141340198
|
0.00050
|
NM_000687.4(AHCY):c.390C>T (p.Asp130=)
|
rs143931269
|
0.00050
|
NM_001370658.1(BTD):c.825C>T (p.Asn275=)
|
rs145379955
|
0.00050
|
NM_001875.5(CPS1):c.2829+19T>C
|
rs370788477
|
0.00050
|
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr)
|
rs200111698
|
0.00050
|
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
|
rs149600380
|
0.00049
|
NM_001258392.3(CLPB):c.1560+11T>C
|
rs113954132
|
0.00049
|
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp)
|
rs139646715
|
0.00049
|
NM_001875.5(CPS1):c.1707+15dup
|
rs567549478
|
0.00049
|
NM_001875.5(CPS1):c.1707+16T>C
|
rs565200384
|
0.00049
|
NM_004483.5(GCSH):c.33C>T (p.Ala11=)
|
rs760969799
|
0.00049
|
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)
|
rs139229844
|
0.00049
|
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
|
rs138937107
|
0.00049
|
NM_177550.5(SLC13A5):c.716+15G>A
|
rs377090828
|
0.00049
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
NM_001258392.3(CLPB):c.723C>T (p.His241=)
|
rs368930954
|
0.00048
|
NM_006859.4(LIAS):c.807G>A (p.Gln269=)
|
rs140846573
|
0.00048
|
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
|
rs141098495
|
0.00048
|
NM_052845.4(MMAB):c.620C>T (p.Ala207Val)
|
rs61739388
|
0.00048
|
NM_000026.4(ADSL):c.1191+9C>T
|
rs371706528
|
0.00047
|
NM_000170.3(GLDC):c.1155+91C>T
|
rs779753406
|
0.00047
|
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=)
|
rs148188703
|
0.00047
|
NM_001271.4(CHD2):c.3552A>G (p.Ala1184=)
|
rs144292068
|
0.00047
|
NM_005050.4(ABCD4):c.1507-18C>T
|
rs368891249
|
0.00047
|
NM_000026.4(ADSL):c.27G>T (p.Ser9=)
|
rs146873132
|
0.00046
|
NM_001243279.3(ACSF3):c.1614-6C>T
|
rs368789945
|
0.00046
|
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser)
|
rs200886053
|
0.00046
|
NM_005050.4(ABCD4):c.425+13A>G
|
rs370752716
|
0.00046
|
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)
|
rs147744868
|
0.00046
|
NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala)
|
rs142409945
|
0.00046
|
NM_152419.3(HGSNAT):c.765C>T (p.Val255=)
|
rs137963729
|
0.00046
|
NM_201253.3(CRB1):c.3878+15A>T
|
rs200217112
|
0.00046
|
NM_000026.4(ADSL):c.702-7T>C
|
rs201509960
|
0.00045
|
NM_000170.3(GLDC):c.45G>A (p.Gly15=)
|
rs577986419
|
0.00045
|
NM_001080.3(ALDH5A1):c.355-9C>G
|
rs375453445
|
0.00045
|
NM_015506.3(MMACHC):c.277-4C>G
|
rs199889403
|
0.00045
|
NM_054012.4(ASS1):c.175-16G>T
|
rs373936572
|
0.00045
|
NM_201253.3(CRB1):c.2398A>G (p.Ile800Val)
|
rs74846670
|
0.00045
|
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg)
|
rs142090517
|
0.00045
|
NM_000019.4(ACAT1):c.1164-15C>T
|
rs185613183
|
0.00044
|
NM_000170.3(GLDC):c.166C>T (p.Leu56Phe)
|
rs374342418
|
0.00044
|
NM_000282.4(PCCA):c.1002C>T (p.Thr334=)
|
rs150106872
|
0.00044
|
NM_001258392.3(CLPB):c.455+8G>C
|
rs200993434
|
0.00044
|
NM_002454.3(MTRR):c.958A>G (p.Ser320Gly)
|
rs199762141
|
0.00044
|
NM_032601.4(MCEE):c.66C>T (p.Pro22=)
|
rs151148238
|
0.00044
|
NM_145261.4(DNAJC19):c.300A>G (p.Ala100=)
|
rs373886730
|
0.00044
|
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe)
|
rs140648074
|
0.00044
|
NM_000017.4(ACADS):c.360+15A>G
|
rs770784767
|
0.00043
|
NM_000254.3(MTR):c.1080A>G (p.Leu360=)
|
rs141861479
|
0.00043
|
NM_001080.3(ALDH5A1):c.605C>T (p.Thr202Ile)
|
rs148733464
|
0.00043
|
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=)
|
rs780294227
|
0.00043
|
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)
|
rs142621386
|
0.00043
|
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)
|
rs144705277
|
0.00043
|
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)
|
rs141481633
|
0.00043
|
NM_001876.4(CPT1A):c.144C>T (p.Asn48=)
|
rs182451427
|
0.00043
|
NM_004937.3(CTNS):c.853-15G>A
|
rs376050426
|
0.00043
|
NM_015662.3(IFT172):c.2023-15C>A
|
rs377630264
|
0.00043
|
NM_000276.4(OCRL):c.1657A>G (p.Ile553Val)
|
rs773281269
|
0.00042
|
NM_000360.4(TH):c.363G>A (p.Pro121=)
|
rs370429316
|
0.00042
|
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=)
|
rs150526956
|
0.00042
|
NM_002860.4(ALDH18A1):c.1381G>A (p.Ala461Thr)
|
rs150429857
|
0.00042
|
NM_004937.3(CTNS):c.562-20T>C
|
rs764063960
|
0.00042
|
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val)
|
rs375935118
|
0.00042
|
NM_000137.4(FAH):c.243G>A (p.Ala81=)
|
rs36122289
|
0.00041
|
NM_000137.4(FAH):c.706+9T>C
|
rs368042270
|
0.00041
|
NM_000687.4(AHCY):c.636C>T (p.Ala212=)
|
rs141172613
|
0.00041
|
NM_001127222.2(CACNA1A):c.978+9T>C
|
rs111366222
|
0.00041
|
NM_001271.4(CHD2):c.1810-3T>C
|
rs189339982
|
0.00041
|
NM_001370658.1(BTD):c.411C>T (p.Arg137=)
|
rs141240202
|
0.00041
|
NM_001876.4(CPT1A):c.2260C>T (p.Leu754=)
|
rs144781827
|
0.00041
|
NM_001958.5(EEF1A2):c.357C>T (p.Gly119=)
|
rs143241534
|
0.00041
|
NM_005050.4(ABCD4):c.1118+9C>T
|
rs370581068
|
0.00041
|
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)
|
rs141440865
|
0.00041
|
NM_177550.5(SLC13A5):c.690C>T (p.Asn230=)
|
rs146385318
|
0.00041
|
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
|
rs144907014
|
0.00040
|
NM_001010867.4(IBA57):c.780C>T (p.Tyr260=)
|
rs202126055
|
0.00040
|
NM_001258392.3(CLPB):c.159G>A (p.Gly53=)
|
rs146260335
|
0.00040
|
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)
|
rs368890059
|
0.00040
|
NM_004937.3(CTNS):c.561+4C>T
|
rs111256750
|
0.00040
|
NM_032861.4(SERAC1):c.1308+7G>A
|
rs201873667
|
0.00040
|
NM_177550.5(SLC13A5):c.1576-13G>A
|
rs377340234
|
0.00040
|
NM_177550.5(SLC13A5):c.369-17C>T
|
rs372696631
|
0.00040
|
NM_177550.5(SLC13A5):c.582G>A (p.Gly194=)
|
rs147260918
|
0.00040
|
NM_000017.4(ACADS):c.624+8C>T
|
rs371550264
|
0.00039
|
NM_000026.4(ADSL):c.270T>C (p.Ala90=)
|
rs143275316
|
0.00039
|
NM_000045.4(ARG1):c.803-8T>C
|
rs374805901
|
0.00039
|
NM_000532.5(PCCB):c.1485T>G (p.Pro495=)
|
rs151094095
|
0.00039
|
NM_001258392.3(CLPB):c.1287C>T (p.Ala429=)
|
rs143482511
|
0.00039
|
NM_001875.5(CPS1):c.2391+20C>T
|
rs376315320
|
0.00039
|
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)
|
rs150485422
|
0.00039
|
NM_002150.3(HPD):c.954+14A>C
|
rs200866898
|
0.00039
|
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)
|
rs146720775
|
0.00039
|
NM_004408.4(DNM1):c.1707C>T (p.Asn569=)
|
rs145318071
|
0.00039
|
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)
|
rs142858149
|
0.00039
|
NM_000017.4(ACADS):c.1029+20A>C
|
rs370161104
|
0.00038
|
NM_000071.3(CBS):c.1380G>A (p.Thr460=)
|
rs765134080
|
0.00038
|
NM_000159.4(GCDH):c.636-18C>T
|
rs183109666
|
0.00038
|
NM_000182.5(HADHA):c.1153C>T (p.Leu385=)
|
rs139485335
|
0.00038
|
NM_000254.3(MTR):c.1977A>G (p.Lys659=)
|
rs144767461
|
0.00038
|
NM_000274.4(OAT):c.900+9C>A
|
rs372834151
|
0.00038
|
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
NM_001024845.3(SLC6A9):c.859-18A>G
|
rs202227083
|
0.00038
|
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)
|
rs147446660
|
0.00038
|
NM_005050.4(ABCD4):c.1710G>T (p.Gly570=)
|
rs138862492
|
0.00038
|
NM_005327.7(HADH):c.99C>G (p.Ile33Met)
|
rs74428123
|
0.00038
|
NM_015506.3(MMACHC):c.691T>C (p.Leu231=)
|
rs373198842
|
0.00038
|
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=)
|
rs372909374
|
0.00038
|
NM_000048.4(ASL):c.1200C>G (p.Thr400=)
|
rs370291313
|
0.00037
|
NM_000159.4(GCDH):c.531C>T (p.Phe177=)
|
rs144013229
|
0.00037
|
NM_000320.3(QDPR):c.450C>T (p.Tyr150=)
|
rs140949360
|
0.00037
|
NM_001258392.3(CLPB):c.776-10_776-8del
|
rs572621494
|
0.00037
|
NM_001876.4(CPT1A):c.1557G>A (p.Gln519=)
|
rs149983153
|
0.00037
|
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=)
|
rs375212345
|
0.00037
|
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=)
|
rs782660801
|
0.00037
|
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=)
|
rs150305281
|
0.00037
|
NM_020166.5(MCCC1):c.267A>C (p.Val89=)
|
rs369138447
|
0.00037
|
NM_000016.6(ACADM):c.945+19G>A
|
rs200091478
|
0.00036
|
NM_000026.4(ADSL):c.363G>A (p.Leu121=)
|
rs138203195
|
0.00036
|
NM_000277.3(PAH):c.609C>T (p.Cys203=)
|
rs1801147
|
0.00036
|
NM_000282.4(PCCA):c.2055A>G (p.Gln685=)
|
rs147568036
|
0.00036
|
NM_001258392.3(CLPB):c.874-12C>G
|
rs201936481
|
0.00036
|
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
|
rs74574054
|
0.00036
|
NM_001876.4(CPT1A):c.1983C>T (p.Tyr661=)
|
rs374136875
|
0.00036
|
NM_001876.4(CPT1A):c.930G>C (p.Arg310=)
|
rs147373480
|
0.00036
|
NM_004937.3(CTNS):c.94G>A (p.Val32Ile)
|
rs146684402
|
0.00036
|
NM_016335.6(PRODH):c.1465G>A (p.Ala489Thr)
|
rs370003523
|
0.00036
|
NM_025136.4(OPA3):c.143-7C>T
|
rs375551151
|
0.00036
|
NM_000282.4(PCCA):c.2037C>T (p.Asp679=)
|
rs146870931
|
0.00035
|
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser)
|
rs142693704
|
0.00035
|
NM_003982.4(SLC7A7):c.543C>G (p.Thr181=)
|
rs145777568
|
0.00035
|
NM_054012.4(ASS1):c.322C>T (p.Arg108Trp)
|
rs143405567
|
0.00035
|
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)
|
rs867446205
|
0.00035
|
NM_172250.3(MMAA):c.57A>G (p.Ala19=)
|
rs143211378
|
0.00035
|
NM_177550.5(SLC13A5):c.1230C>T (p.Ile410=)
|
rs149447388
|
0.00035
|
NM_201253.3(CRB1):c.2976A>G (p.Ala992=)
|
rs200379694
|
0.00035
|
NM_000240.4(MAOA):c.1526C>T (p.Thr509Ile)
|
rs147298607
|
0.00034
|
NM_000329.3(RPE65):c.102C>A (p.Ile34=)
|
rs146357166
|
0.00034
|
NM_000329.3(RPE65):c.1435T>C (p.Leu479=)
|
rs373882259
|
0.00034
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
NM_001010867.4(IBA57):c.341+9G>A
|
rs370043210
|
0.00034
|
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=)
|
rs146779456
|
0.00034
|
NM_001609.4(ACADSB):c.990+11A>T
|
rs376944892
|
0.00034
|
NM_001876.4(CPT1A):c.492G>A (p.Leu164=)
|
rs200836324
|
0.00034
|
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)
|
rs147219158
|
0.00034
|
NM_005050.4(ABCD4):c.1498G>A (p.Ala500Thr)
|
rs150594251
|
0.00034
|
NM_005518.4(HMGCS2):c.1017-18C>T
|
rs373664352
|
0.00034
|
NM_020166.5(MCCC1):c.438A>G (p.Gly146=)
|
rs139987877
|
0.00034
|
NM_022132.5(MCCC2):c.1374-10C>T
|
rs766032118
|
0.00034
|
NM_025136.4(OPA3):c.143-14C>T
|
rs368939051
|
0.00034
|
NM_054012.4(ASS1):c.411C>T (p.Pro137=)
|
rs139250536
|
0.00034
|
NM_058179.4(PSAT1):c.795G>A (p.Ala265=)
|
rs184256039
|
0.00034
|
NM_000554.6(CRX):c.597C>T (p.Ser199=)
|
rs61748455
|
0.00033
|
NM_001278293.3(ARL6):c.481G>T (p.Ala161Ser)
|
rs567825969
|
0.00033
|
NM_001876.4(CPT1A):c.2013C>T (p.Ser671=)
|
rs755323437
|
0.00033
|
NM_022132.5(MCCC2):c.738+9A>G
|
rs776559643
|
0.00033
|
NM_153006.3(NAGS):c.246G>A (p.Pro82=)
|
rs747154237
|
0.00033
|
NM_000159.4(GCDH):c.1044C>T (p.His348=)
|
rs140134376
|
0.00032
|
NM_000170.3(GLDC):c.471-14T>C
|
rs374248745
|
0.00032
|
NM_000277.3(PAH):c.969+7C>T
|
rs80324017
|
0.00032
|
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)
|
rs61748442
|
0.00032
|
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile)
|
rs151294087
|
0.00032
|
NM_001080.3(ALDH5A1):c.175C>T (p.Leu59=)
|
rs907112605
|
0.00032
|
NM_001698.3(AUH):c.807G>A (p.Arg269=)
|
rs145208407
|
0.00032
|
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=)
|
rs150472102
|
0.00032
|
NM_002860.4(ALDH18A1):c.933+13T>C
|
rs201520042
|
0.00032
|
NM_004974.4(KCNA2):c.903C>T (p.Val301=)
|
rs752322953
|
0.00032
|
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)
|
rs199953428
|
0.00032
|
NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=)
|
rs150021522
|
0.00032
|
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn)
|
rs147297426
|
0.00032
|
NC_000022.11:g.40346253G>A
|
rs912673794
|
0.00031
|
NM_000017.4(ACADS):c.795+9G>A
|
rs370703070
|
0.00031
|
NM_000182.5(HADHA):c.1689+11C>T
|
rs367640259
|
0.00031
|
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys)
|
rs143832445
|
0.00031
|
NM_000387.6(SLC25A20):c.720A>G (p.Ala240=)
|
rs142417191
|
0.00031
|
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)
|
rs144241950
|
0.00031
|
NM_000532.5(PCCB):c.180G>A (p.Lys60=)
|
rs140636870
|
0.00031
|
NM_001002755.4(NFU1):c.303-19A>G
|
rs141033711
|
0.00031
|
NM_001243279.3(ACSF3):c.327C>T (p.Val109=)
|
rs141517318
|
0.00031
|
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)
|
rs375374971
|
0.00031
|
NM_001258392.3(CLPB):c.1164C>T (p.His388=)
|
rs202009794
|
0.00031
|
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=)
|
rs141458508
|
0.00031
|
NM_001271.4(CHD2):c.1214C>T (p.Pro405Leu)
|
rs370464322
|
0.00031
|
NM_004483.5(GCSH):c.72G>T (p.Ala24=)
|
rs1010129827
|
0.00031
|
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=)
|
rs201452496
|
0.00031
|
NM_015662.3(IFT172):c.3005T>A (p.Leu1002His)
|
rs369466577
|
0.00031
|
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=)
|
rs138374055
|
0.00031
|
NM_054012.4(ASS1):c.333C>T (p.Ala111=)
|
rs141568959
|
0.00031
|
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)
|
rs886062952
|
0.00031
|
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
|
rs371714495
|
0.00031
|
NM_201253.3(CRB1):c.3399G>T (p.Val1133=)
|
rs146793724
|
0.00031
|
NM_205861.3(DHDDS):c.912C>G (p.Ala304=)
|
rs747231238
|
0.00031
|
NM_000687.4(AHCY):c.882C>G (p.Ala294=)
|
rs376464023
|
0.00030
|
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=)
|
rs189674085
|
0.00030
|
NM_002225.5(IVD):c.961-6G>A
|
rs199783007
|
0.00030
|
NM_005050.4(ABCD4):c.1637-10G>A
|
rs201148020
|
0.00030
|
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=)
|
rs200145247
|
0.00030
|
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg)
|
rs182600362
|
0.00030
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)
|
rs145541911
|
0.00030
|
NM_000018.4(ACADVL):c.1678+15C>T
|
rs371402802
|
0.00029
|
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
|
rs143225442
|
0.00029
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_000170.3(GLDC):c.329C>A (p.Pro110His)
|
rs371491621
|
0.00029
|
NM_000182.5(HADHA):c.315-12T>C
|
rs531815564
|
0.00029
|
NM_000191.3(HMGCL):c.604C>T (p.Leu202=)
|
rs146602259
|
0.00029
|
NM_000320.3(QDPR):c.545+12G>A
|
rs372540886
|
0.00029
|
NM_000360.4(TH):c.91-891G>A
|
rs371277838
|
0.00029
|
NM_000687.4(AHCY):c.855-8C>T
|
rs370059571
|
0.00029
|
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
|
rs142967869
|
0.00029
|
NM_001127222.2(CACNA1A):c.3117G>T (p.Val1039=)
|
rs745981005
|
0.00029
|
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=)
|
rs372240227
|
0.00029
|
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=)
|
rs147718091
|
0.00029
|
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu)
|
rs146588273
|
0.00029
|
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser)
|
rs143043614
|
0.00029
|
NM_001271.4(CHD2):c.4078G>A (p.Gly1360Arg)
|
rs146655995
|
0.00029
|
NM_001698.3(AUH):c.936T>C (p.Tyr312=)
|
rs139628387
|
0.00029
|
NM_003042.4(SLC6A1):c.1275T>G (p.Ala425=)
|
rs33999096
|
0.00029
|
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)
|
rs377767450
|
0.00029
|
NM_004937.3(CTNS):c.661G>A (p.Val221Met)
|
rs138270433
|
0.00029
|
NM_005957.5(MTHFR):c.1281T>C (p.Ser427=)
|
rs149533586
|
0.00029
|
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=)
|
rs149585376
|
0.00029
|
NM_012213.3(MLYCD):c.799-19C>T
|
rs371452638
|
0.00029
|
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=)
|
rs35434090
|
0.00029
|
NM_177550.5(SLC13A5):c.1095C>G (p.Thr365=)
|
rs139660928
|
0.00029
|
NM_201253.3(CRB1):c.29T>C (p.Leu10Pro)
|
rs201609001
|
0.00029
|
NM_201253.3(CRB1):c.71-14T>C
|
rs374653244
|
0.00029
|
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
|
rs146339375
|
0.00028
|
NM_000182.5(HADHA):c.1690-13G>A
|
rs368557552
|
0.00028
|
NM_000360.4(TH):c.67G>A (p.Ala23Thr)
|
rs201081519
|
0.00028
|
NM_000709.4(BCKDHA):c.117C>A (p.Pro39=)
|
rs80014754
|
0.00028
|
NM_001010867.4(IBA57):c.680-14T>G
|
rs375942905
|
0.00028
|
NM_003748.4(ALDH4A1):c.483C>T (p.Asp161=)
|
rs182240222
|
0.00028
|
NM_004453.4(ETFDH):c.441T>C (p.Phe147=)
|
rs138149265
|
0.00028
|
NM_005271.5(GLUD1):c.393C>G (p.Val131=)
|
rs147496974
|
0.00028
|
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=)
|
rs782660181
|
0.00028
|
NM_005629.4(SLC6A8):c.1767+16G>A
|
rs781867197
|
0.00028
|
NM_054012.4(ASS1):c.1015G>A (p.Ala339Thr)
|
rs145100866
|
0.00028
|
NM_000137.4(FAH):c.409G>A (p.Val137Ile)
|
rs139268254
|
0.00027
|
NM_000170.3(GLDC):c.619C>G (p.Leu207Val)
|
rs142181803
|
0.00027
|
NM_000341.4(SLC3A1):c.544G>A (p.Glu182Lys)
|
rs549909989
|
0.00027
|
NM_001258392.3(CLPB):c.693C>T (p.Arg231=)
|
rs149932193
|
0.00027
|
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr)
|
rs150012540
|
0.00027
|
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=)
|
rs377583331
|
0.00027
|
NM_012213.3(MLYCD):c.1383G>A (p.Thr461=)
|
rs375344095
|
0.00027
|
NM_032861.4(SERAC1):c.1828+10C>G
|
rs374374755
|
0.00027
|
NM_152419.3(HGSNAT):c.1251-4C>T
|
rs374882647
|
0.00027
|
NM_000018.4(ACADVL):c.1533-4T>A
|
rs369986567
|
0.00026
|
NM_000137.4(FAH):c.564C>T (p.Pro188=)
|
rs149988384
|
0.00026
|
NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser)
|
rs150943866
|
0.00026
|
NM_000254.3(MTR):c.3035A>T (p.Asp1012Val)
|
rs201901663
|
0.00026
|
NM_000281.4(PCBD1):c.57C>T (p.Asn19=)
|
rs114265283
|
0.00026
|
NM_000282.4(PCCA):c.606A>G (p.Ala202=)
|
rs140082586
|
0.00026
|
NM_000282.4(PCCA):c.660C>T (p.Ala220=)
|
rs145826296
|
0.00026
|
NM_000317.3(PTS):c.195T>C (p.Pro65=)
|
rs143472856
|
0.00026
|
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=)
|
rs144065614
|
0.00026
|
NM_000360.4(TH):c.594G>T (p.Val198=)
|
rs544661832
|
0.00026
|
NM_001024845.3(SLC6A9):c.930T>C (p.Ala310=)
|
rs141699039
|
0.00026
|
NM_001080.3(ALDH5A1):c.542C>T (p.Thr181Ile)
|
rs147439442
|
0.00026
|
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=)
|
rs115452236
|
0.00026
|
NM_001258392.3(CLPB):c.465A>G (p.Ser155=)
|
rs138171096
|
0.00026
|
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)
|
rs142524025
|
0.00026
|
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
|
rs148868421
|
0.00026
|
NM_001482.3(GATM):c.484+19C>T
|
rs374556262
|
0.00026
|
NM_001875.5(CPS1):c.1569A>G (p.Arg523=)
|
rs140475976
|
0.00026
|
NM_001876.4(CPT1A):c.693+7C>T
|
rs370181471
|
0.00026
|
NM_002225.5(IVD):c.916C>G (p.Leu306Val)
|
rs144418134
|
0.00026
|
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)
|
rs146222625
|
0.00026
|
NM_004408.4(DNM1):c.414C>T (p.Pro138=)
|
rs141748215
|
0.00026
|
NM_004974.4(KCNA2):c.1047A>G (p.Ala349=)
|
rs371979518
|
0.00026
|
NM_004974.4(KCNA2):c.372G>A (p.Glu124=)
|
rs200499541
|
0.00026
|
NM_006623.4(PHGDH):c.356+13C>G
|
rs184901459
|
0.00026
|
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)
|
rs367930028
|
0.00026
|
NM_015662.3(IFT172):c.258T>C (p.Thr86=)
|
rs369061009
|
0.00026
|
NM_015662.3(IFT172):c.2949G>A (p.Lys983=)
|
rs141970363
|
0.00026
|
NM_015662.3(IFT172):c.987G>A (p.Thr329=)
|
rs376714689
|
0.00026
|
NM_020686.6(ABAT):c.955-19C>T
|
rs200209214
|
0.00026
|
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)
|
rs147719822
|
0.00026
|
NM_000071.3(CBS):c.829-11G>T
|
rs371619788
|
0.00025
|
NM_001243279.3(ACSF3):c.978-6G>A
|
rs377217672
|
0.00025
|
NM_001875.5(CPS1):c.947+19T>C
|
rs201276852
|
0.00025
|
NM_001958.5(EEF1A2):c.807C>T (p.Thr269=)
|
rs147062680
|
0.00025
|
NM_002225.5(IVD):c.234+16C>T
|
rs750473075
|
0.00025
|
NM_002225.5(IVD):c.234+9G>A
|
rs369931477
|
0.00025
|
NM_002454.3(MTRR):c.906T>C (p.Asn302=)
|
rs144729918
|
0.00025
|
NM_004453.4(ETFDH):c.1449G>T (p.Pro483=)
|
rs143873407
|
0.00025
|
NM_004975.4(KCNB1):c.2324C>A (p.Pro775His)
|
rs530927636
|
0.00025
|
NM_014384.3(ACAD8):c.380+17G>T
|
rs201079276
|
0.00025
|
NM_015506.3(MMACHC):c.126G>A (p.Pro42=)
|
rs201112314
|
0.00025
|
NM_015662.3(IFT172):c.291A>C (p.Glu97Asp)
|
rs189236939
|
0.00025
|
NM_015662.3(IFT172):c.3711+13A>T
|
rs371208266
|
0.00025
|
NM_015662.3(IFT172):c.4290C>T (p.Cys1430=)
|
rs551376007
|
0.00025
|
NM_018706.7(DHTKD1):c.33G>A (p.Arg11=)
|
rs199768968
|
0.00025
|
NM_177550.5(SLC13A5):c.232-7G>A
|
rs376066820
|
0.00025
|
NM_201253.3(CRB1):c.1428C>T (p.Thr476=)
|
rs62636282
|
0.00025
|
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)
|
rs150412614
|
0.00025
|
NM_201253.3(CRB1):c.866C>T (p.Thr289Met)
|
rs62636263
|
0.00025
|
NM_000018.4(ACADVL):c.1751+18G>A
|
rs528002997
|
0.00024
|
NM_000137.4(FAH):c.831G>A (p.Pro277=)
|
rs372980573
|
0.00024
|
NM_000159.4(GCDH):c.417G>A (p.Ser139=)
|
rs201583578
|
0.00024
|
NM_000170.3(GLDC):c.2316-13A>C
|
rs200931138
|
0.00024
|
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile)
|
rs147629352
|
0.00024
|
NM_000481.4(AMT):c.152C>T (p.Ala51Val)
|
rs34812788
|
0.00024
|
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)
|
rs137960127
|
0.00024
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
NM_001243279.3(ACSF3):c.1502-4G>A
|
rs111414659
|
0.00024
|
NM_001352514.2(HLCS):c.1326C>T (p.Pro442=)
|
rs143393390
|
0.00024
|
NM_001352514.2(HLCS):c.674G>A (p.Gly225Asp)
|
rs144238478
|
0.00024
|
NM_001876.4(CPT1A):c.171A>G (p.Ala57=)
|
rs758539295
|
0.00024
|
NM_001876.4(CPT1A):c.2173A>G (p.Ile725Val)
|
rs773269662
|
0.00024
|
NM_002860.4(ALDH18A1):c.1153-13A>G
|
rs370680325
|
0.00024
|
NM_002860.4(ALDH18A1):c.76G>A (p.Val26Ile)
|
rs200242907
|
0.00024
|
NM_005518.4(HMGCS2):c.570C>T (p.Ala190=)
|
rs201735169
|
0.00024
|
NM_012213.3(MLYCD):c.558C>G (p.Leu186=)
|
rs200027817
|
0.00024
|
NM_012213.3(MLYCD):c.799-15G>A
|
rs367614213
|
0.00024
|
NM_014251.3(SLC25A13):c.882T>C (p.Ala294=)
|
rs138094550
|
0.00024
|
NM_015662.3(IFT172):c.2193+10T>A
|
rs368782783
|
0.00024
|
NM_015662.3(IFT172):c.3952-19C>T
|
rs367962098
|
0.00024
|
NM_054012.4(ASS1):c.165G>A (p.Gly55=)
|
rs146333243
|
0.00024
|
NM_000170.3(GLDC):c.48C>T (p.Val16=)
|
rs1262283551
|
0.00023
|
NM_000277.3(PAH):c.1161C>T (p.Tyr387=)
|
rs149595475
|
0.00023
|
NM_000554.6(CRX):c.22G>C (p.Gly8Arg)
|
rs146240568
|
0.00023
|
NM_000554.6(CRX):c.309G>A (p.Gln103=)
|
rs138242846
|
0.00023
|
NM_001127222.2(CACNA1A):c.3035C>A (p.Thr1012Lys)
|
rs573941336
|
0.00023
|
NM_001258392.3(CLPB):c.2024A>G (p.Asn675Ser)
|
rs767062135
|
0.00023
|
NM_001370658.1(BTD):c.430A>C (p.Arg144=)
|
rs556096072
|
0.00023
|
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)
|
rs150775371
|
0.00023
|
NM_003982.4(SLC7A7):c.771-12A>G
|
rs554947145
|
0.00023
|
NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln)
|
rs150105001
|
0.00023
|
NM_004937.3(CTNS):c.444G>A (p.Met148Ile)
|
rs199977728
|
0.00023
|
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=)
|
rs1259347673
|
0.00023
|
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=)
|
rs781802693
|
0.00023
|
NM_016335.6(PRODH):c.606C>T (p.Tyr202=)
|
rs149344100
|
0.00023
|
NM_018706.7(DHTKD1):c.1220G>A (p.Arg407His)
|
rs201455968
|
0.00023
|
NM_054012.4(ASS1):c.240C>T (p.Ser80=)
|
rs147910468
|
0.00023
|
NM_000045.4(ARG1):c.474T>C (p.Asp158=)
|
rs144403253
|
0.00022
|
NM_000108.5(DLD):c.321A>G (p.Ala107=)
|
rs138398782
|
0.00022
|
NM_000137.4(FAH):c.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
NM_000353.3(TAT):c.592C>T (p.Leu198=)
|
rs148656877
|
0.00022
|
NM_000360.4(TH):c.1200+11C>T
|
rs372851419
|
0.00022
|
NM_000360.4(TH):c.12C>T (p.Pro4=)
|
rs147131010
|
0.00022
|
NM_000532.5(PCCB):c.544-5G>C
|
rs372351800
|
0.00022
|
NM_001024845.3(SLC6A9):c.1086C>T (p.His362=)
|
rs778854185
|
0.00022
|
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)
|
rs374307014
|
0.00022
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn)
|
rs149822970
|
0.00022
|
NM_001918.5(DBT):c.964T>C (p.Phe322Leu)
|
rs148571335
|
0.00022
|
NM_002860.4(ALDH18A1):c.1253T>A (p.Leu418His)
|
rs201069261
|
0.00022
|
NM_003060.4(SLC22A5):c.798G>A (p.Pro266=)
|
rs143758508
|
0.00022
|
NM_003982.4(SLC7A7):c.882T>C (p.Asp294=)
|
rs750881343
|
0.00022
|
NM_004408.4(DNM1):c.2582C>A (p.Pro861His)
|
rs187315526
|
0.00022
|
NM_004975.4(KCNB1):c.51G>A (p.Pro17=)
|
rs772184358
|
0.00022
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
0.00022
|
NM_005881.4(BCKDK):c.822G>A (p.Pro274=)
|
rs55884792
|
0.00022
|
NM_016335.6(PRODH):c.1126C>T (p.Arg376Trp)
|
rs558320099
|
0.00022
|
NM_016335.6(PRODH):c.457G>A (p.Glu153Lys)
|
rs139870359
|
0.00022
|
NM_016335.6(PRODH):c.780A>G (p.Gln260=)
|
rs202042437
|
0.00022
|
NM_018706.7(DHTKD1):c.2048-4C>T
|
rs375385370
|
0.00022
|
NM_018706.7(DHTKD1):c.2427C>T (p.Ser809=)
|
rs144376657
|
0.00022
|
NM_054012.4(ASS1):c.-4C>T
|
rs138350285
|
0.00022
|
NM_152419.3(HGSNAT):c.468C>T (p.Asn156=)
|
rs376382820
|
0.00022
|
NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn)
|
rs139463596
|
0.00022
|
NM_201253.3(CRB1):c.4148G>A (p.Arg1383His)
|
rs200573274
|
0.00022
|
NM_000048.4(ASL):c.1169C>T (p.Ala390Val)
|
rs201047656
|
0.00021
|
NM_000108.5(DLD):c.519T>G (p.Val173=)
|
rs148559280
|
0.00021
|
NM_000159.4(GCDH):c.127+9C>T
|
rs142568445
|
0.00021
|
NM_000170.3(GLDC):c.1932C>T (p.Cys644=)
|
rs111348076
|
0.00021
|
NM_000170.3(GLDC):c.2097C>T (p.Tyr699=)
|
rs149694787
|
0.00021
|
NM_000182.5(HADHA):c.1621-19A>G
|
rs372878267
|
0.00021
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00021
|
NM_000254.3(MTR):c.1215G>A (p.Gln405=)
|
rs376048659
|
0.00021
|
NM_000532.5(PCCB):c.303+8T>A
|
rs199769617
|
0.00021
|
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)
|
rs147021347
|
0.00021
|
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)
|
rs150177278
|
0.00021
|
NM_001024845.3(SLC6A9):c.1653C>T (p.Ile551=)
|
rs202054416
|
0.00021
|
NM_001271.4(CHD2):c.4483G>A (p.Val1495Met)
|
rs770993927
|
0.00021
|
NM_001739.2(CA5A):c.556C>T (p.Leu186Phe)
|
rs375321548
|
0.00021
|
NM_001875.5(CPS1):c.234A>G (p.Gly78=)
|
rs182678639
|
0.00021
|
NM_001875.5(CPS1):c.3481-4A>C
|
rs200229226
|
0.00021
|
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)
|
rs150314086
|
0.00021
|
NM_002150.3(HPD):c.93+20G>A
|
rs202081529
|
0.00021
|
NM_002860.4(ALDH18A1):c.37T>A (p.Phe13Ile)
|
rs376664715
|
0.00021
|
NM_003042.4(SLC6A1):c.1044C>T (p.Val348=)
|
rs144666962
|
0.00021
|
NM_003042.4(SLC6A1):c.480G>T (p.Pro160=)
|
rs116620331
|
0.00021
|
NM_004408.4(DNM1):c.235+8C>T
|
rs370555560
|
0.00021
|
NM_005271.5(GLUD1):c.150G>C (p.Arg50=)
|
rs746606279
|
0.00021
|
NM_005881.4(BCKDK):c.1185C>T (p.Asp395=)
|
rs141335706
|
0.00021
|
NM_006623.4(PHGDH):c.412-15C>T
|
rs368681081
|
0.00021
|
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp)
|
rs137906877
|
0.00021
|
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)
|
rs201806708
|
0.00021
|
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val)
|
rs143156315
|
0.00021
|
NM_052845.4(MMAB):c.333C>T (p.Ala111=)
|
rs769385276
|
0.00021
|
NM_201253.3(CRB1):c.430T>G (p.Phe144Val)
|
rs62636262
|
0.00021
|
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)
|
rs150038447
|
0.00020
|
NM_000182.5(HADHA):c.864A>G (p.Glu288=)
|
rs372425837
|
0.00020
|
NM_000240.4(MAOA):c.1437+14C>T
|
rs372158657
|
0.00020
|
NM_000254.3(MTR):c.639T>C (p.Phe213=)
|
rs568734591
|
0.00020
|
NM_000274.4(OAT):c.900+17C>G
|
rs375060243
|
0.00020
|
NM_000282.4(PCCA):c.415-10C>T
|
rs376120578
|
0.00020
|
NM_000554.6(CRX):c.549G>A (p.Gly183=)
|
rs61748451
|
0.00020
|
NM_000709.4(BCKDHA):c.336T>G (p.Leu112=)
|
rs150700696
|
0.00020
|
NM_001024845.3(SLC6A9):c.1374G>A (p.Ala458=)
|
rs199966777
|
0.00020
|
NM_001024845.3(SLC6A9):c.859-10T>C
|
rs376444778
|
0.00020
|
NM_001080.3(ALDH5A1):c.1344-6T>C
|
rs368212282
|
0.00020
|
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=)
|
rs539500659
|
0.00020
|
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu)
|
rs141970893
|
0.00020
|
NM_001958.5(EEF1A2):c.30C>T (p.Ile10=)
|
rs376374917
|
0.00020
|
NM_002150.3(HPD):c.199-12C>T
|
rs780308275
|
0.00020
|
NM_002860.4(ALDH18A1):c.96C>A (p.Ile32=)
|
rs11541779
|
0.00020
|
NM_004408.4(DNM1):c.1386C>T (p.Thr462=)
|
rs372666180
|
0.00020
|
NM_004974.4(KCNA2):c.79G>A (p.Ala27Thr)
|
rs750618978
|
0.00020
|
NM_005334.3(HCFC1):c.4942+8C>T
|
rs1013019333
|
0.00020
|
NM_005629.4(SLC6A8):c.1596+9T>G
|
rs781828647
|
0.00020
|
NM_015662.3(IFT172):c.2521+11C>T
|
rs373403495
|
0.00020
|
NM_015662.3(IFT172):c.792G>A (p.Arg264=)
|
rs138730915
|
0.00020
|
NM_016579.4(CD320):c.378C>T (p.Asn126=)
|
rs144097701
|
0.00020
|
NM_054012.4(ASS1):c.765C>T (p.Asn255=)
|
rs375579096
|
0.00020
|
NM_000016.6(ACADM):c.187G>C (p.Val63Leu)
|
rs149308824
|
0.00019
|
NM_000017.4(ACADS):c.211-18G>A
|
rs201747310
|
0.00019
|
NM_000019.4(ACAT1):c.113C>T (p.Thr38Ile)
|
rs142869776
|
0.00019
|
NM_000048.4(ASL):c.655+8G>A
|
rs200203985
|
0.00019
|
NM_000071.3(CBS):c.339C>T (p.Asn113=)
|
rs140879135
|
0.00019
|
NM_000116.5(TAFAZZIN):c.584-7del
|
rs782192927
|
0.00019
|
NM_000156.6(GAMT):c.328-10C>T
|
rs371511930
|
0.00019
|
NM_000170.3(GLDC):c.1530G>A (p.Gly510=)
|
rs145665442
|
0.00019
|
NM_000170.3(GLDC):c.2244G>A (p.Ser748=)
|
rs372693840
|
0.00019
|
NM_000170.3(GLDC):c.2570-10T>C
|
rs373987254
|
0.00019
|
NM_000182.5(HADHA):c.2215G>C (p.Ala739Pro)
|
rs141164185
|
0.00019
|
NM_000254.3(MTR):c.1075+7C>T
|
rs202157685
|
0.00019
|
NM_000274.4(OAT):c.107G>C (p.Gly36Ala)
|
rs140786333
|
0.00019
|
NM_000277.3(PAH):c.399T>C (p.Asn133=)
|
rs145692106
|
0.00019
|
NM_000282.4(PCCA):c.1131T>G (p.Ala377=)
|
rs754991015
|
0.00019
|
NM_000532.5(PCCB):c.510G>A (p.Val170=)
|
rs1212025973
|
0.00019
|
NM_000687.4(AHCY):c.471C>T (p.Thr157=)
|
rs192590509
|
0.00019
|
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)
|
rs371343548
|
0.00019
|
NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu)
|
rs142734560
|
0.00019
|
NM_001080.3(ALDH5A1):c.684G>A (p.Lys228=)
|
rs200484487
|
0.00019
|
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=)
|
rs138912422
|
0.00019
|
NM_001127222.2(CACNA1A):c.1781+7C>A
|
rs202005119
|
0.00019
|
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=)
|
rs376641545
|
0.00019
|
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=)
|
rs749357610
|
0.00019
|
NM_001127222.2(CACNA1A):c.6339+10G>C
|
rs376238265
|
0.00019
|
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr)
|
rs192339782
|
0.00019
|
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser)
|
rs201022212
|
0.00019
|
NM_001258392.3(CLPB):c.1425C>T (p.His475=)
|
rs756497518
|
0.00019
|
NM_001271.4(CHD2):c.4278+5T>C
|
rs202174434
|
0.00019
|
NM_001698.3(AUH):c.262+14G>A
|
rs200386272
|
0.00019
|
NM_001698.3(AUH):c.330+13A>T
|
rs374741033
|
0.00019
|
NM_001739.2(CA5A):c.690C>T (p.Tyr230=)
|
rs142006568
|
0.00019
|
NM_001876.4(CPT1A):c.669A>G (p.Leu223=)
|
rs373563983
|
0.00019
|
NM_001985.3(ETFB):c.452C>T (p.Ser151Phe)
|
rs74735908
|
0.00019
|
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)
|
rs201605414
|
0.00019
|
NM_003748.4(ALDH4A1):c.1579+11C>T
|
rs367612554
|
0.00019
|
NM_003982.4(SLC7A7):c.1064G>A (p.Arg355Gln)
|
rs11568423
|
0.00019
|
NM_004408.4(DNM1):c.1586A>G (p.Asn529Ser)
|
rs150040014
|
0.00019
|
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp)
|
rs375172942
|
0.00019
|
NM_004937.3(CTNS):c.123C>T (p.Asn41=)
|
rs148084080
|
0.00019
|
NM_005050.4(ABCD4):c.1680C>T (p.Ser560=)
|
rs138753274
|
0.00019
|
NM_005957.5(MTHFR):c.513C>A (p.Gly171=)
|
rs150963282
|
0.00019
|
NM_006623.4(PHGDH):c.411+9C>T
|
rs187075075
|
0.00019
|
NM_006859.4(LIAS):c.297T>C (p.Asn99=)
|
rs144299903
|
0.00019
|
NM_012213.3(MLYCD):c.641+11C>T
|
rs200841672
|
0.00019
|
NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg)
|
rs201807738
|
0.00019
|
NM_153006.3(NAGS):c.210C>G (p.Ser70=)
|
rs570583859
|
0.00019
|
NM_000048.4(ASL):c.1035G>A (p.Val345=)
|
rs182203503
|
0.00018
|
NM_000108.5(DLD):c.282C>T (p.Asn94=)
|
rs144617361
|
0.00018
|
NM_000274.4(OAT):c.915G>T (p.Leu305=)
|
rs1249516048
|
0.00018
|
NM_001127222.2(CACNA1A):c.784+10C>T
|
rs781363787
|
0.00018
|
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=)
|
rs147915828
|
0.00018
|
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=)
|
rs150686471
|
0.00018
|
NM_001258392.3(CLPB):c.966C>T (p.Ser322=)
|
rs371562971
|
0.00018
|
NM_001271.4(CHD2):c.2728-16G>A
|
rs111544874
|
0.00018
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)
|
rs200569046
|
0.00018
|
NM_002150.3(HPD):c.759+8C>T
|
rs574773747
|
0.00018
|
NM_002454.3(MTRR):c.904-4C>G
|
rs370809675
|
0.00018
|
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)
|
rs142264458
|
0.00018
|
NM_004937.3(CTNS):c.697G>A (p.Val233Met)
|
rs201058200
|
0.00018
|
NM_012213.3(MLYCD):c.135C>T (p.Arg45=)
|
rs767969074
|
0.00018
|
NM_016579.4(CD320):c.285C>T (p.Thr95=)
|
rs181066013
|
0.00018
|
NM_177550.5(SLC13A5):c.642C>T (p.Tyr214=)
|
rs148755614
|
0.00018
|
NM_000170.3(GLDC):c.2307C>T (p.Pro769=)
|
rs565834029
|
0.00017
|
NM_000170.3(GLDC):c.2352C>T (p.Pro784=)
|
rs367781728
|
0.00017
|
NM_000282.4(PCCA):c.328G>C (p.Val110Leu)
|
rs150788587
|
0.00017
|
NM_000329.3(RPE65):c.1446T>C (p.Asp482=)
|
rs72926953
|
0.00017
|
NM_000481.4(AMT):c.363C>T (p.Asn121=)
|
rs367604855
|
0.00017
|
NM_001010867.4(IBA57):c.204C>T (p.Pro68=)
|
rs376235022
|
0.00017
|
NM_001127222.2(CACNA1A):c.1545C>T (p.Ser515=)
|
rs372275167
|
0.00017
|
NM_001127222.2(CACNA1A):c.6474C>T (p.Arg2158=)
|
rs368016666
|
0.00017
|
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)
|
rs727503832
|
0.00017
|
NM_001271.4(CHD2):c.2877-15A>G
|
rs374737708
|
0.00017
|
NM_001271.4(CHD2):c.4009-4C>T
|
rs376566234
|
0.00017
|
NM_001609.4(ACADSB):c.795C>T (p.Phe265=)
|
rs150619709
|
0.00017
|
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=)
|
rs150601728
|
0.00017
|
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=)
|
rs146185976
|
0.00017
|
NM_004453.4(ETFDH):c.1080A>G (p.Ala360=)
|
rs150020458
|
0.00017
|
NM_004975.4(KCNB1):c.2520C>T (p.Asp840=)
|
rs372147544
|
0.00017
|
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His)
|
rs201578135
|
0.00017
|
NM_012213.3(MLYCD):c.129G>A (p.Leu43=)
|
rs762166598
|
0.00017
|
NM_016335.6(PRODH):c.1143C>T (p.Ala381=)
|
rs560442727
|
0.00017
|
NM_016579.4(CD320):c.374G>A (p.Arg125His)
|
rs375310833
|
0.00017
|
NM_020686.6(ABAT):c.393C>T (p.Leu131=)
|
rs139142171
|
0.00017
|
NM_020686.6(ABAT):c.540+15A>G
|
rs773662763
|
0.00017
|
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)
|
rs371042202
|
0.00017
|
NM_177550.5(SLC13A5):c.741C>T (p.Leu247=)
|
rs138520827
|
0.00017
|
NM_201253.3(CRB1):c.3393T>C (p.Asn1131=)
|
rs150559394
|
0.00017
|
NM_000048.4(ASL):c.1063-18G>A
|
rs375596037
|
0.00016
|
NM_000071.3(CBS):c.1644G>C (p.Arg548=)
|
rs143945898
|
0.00016
|
NM_000137.4(FAH):c.1181-17G>T
|
rs376466730
|
0.00016
|
NM_000137.4(FAH):c.150T>C (p.Phe50=)
|
rs186471906
|
0.00016
|
NM_000137.4(FAH):c.741C>T (p.Leu247=)
|
rs145851627
|
0.00016
|
NM_000159.4(GCDH):c.627C>T (p.Thr209=)
|
rs143172809
|
0.00016
|
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr)
|
rs749513146
|
0.00016
|
NM_000191.3(HMGCL):c.145-8C>T
|
rs369286537
|
0.00016
|
NM_000254.3(MTR):c.3252C>T (p.Asp1084=)
|
rs144429636
|
0.00016
|
NM_000254.3(MTR):c.3405+18C>T
|
rs374485228
|
0.00016
|
NM_000329.3(RPE65):c.168A>G (p.Pro56=)
|
rs150260489
|
0.00016
|
NM_000360.4(TH):c.585G>A (p.Ser195=)
|
rs376615793
|
0.00016
|
NM_000532.5(PCCB):c.1399-19T>C
|
rs368309360
|
0.00016
|
NM_000709.4(BCKDHA):c.213C>T (p.Asn71=)
|
rs138025447
|
0.00016
|
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)
|
rs143608852
|
0.00016
|
NM_001002755.4(NFU1):c.62+10G>A
|
rs773351968
|
0.00016
|
NM_001017989.3(OPA3):c.416A>T (p.Gln139Leu)
|
rs201888844
|
0.00016
|
NM_001024845.3(SLC6A9):c.1104C>T (p.Phe368=)
|
rs149979593
|
0.00016
|
NM_001024845.3(SLC6A9):c.729G>A (p.Val243=)
|
rs189624767
|
0.00016
|
NM_001080.3(ALDH5A1):c.1014+8C>T
|
rs368394825
|
0.00016
|
NM_001080.3(ALDH5A1):c.1080C>T (p.Phe360=)
|
rs571602201
|
0.00016
|
NM_001127222.2(CACNA1A):c.2907G>A (p.Pro969=)
|
rs772557121
|
0.00016
|
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=)
|
rs370541345
|
0.00016
|
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=)
|
rs374555263
|
0.00016
|
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)
|
rs371595464
|
0.00016
|
NM_001127222.2(CACNA1A):c.6339+11C>T
|
rs190260468
|
0.00016
|
NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn)
|
rs142092069
|
0.00016
|
NM_001271.4(CHD2):c.1377+12G>A
|
rs200005446
|
0.00016
|
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu)
|
rs186163798
|
0.00016
|
NM_001271.4(CHD2):c.4593-19T>C
|
rs377557426
|
0.00016
|
NM_001482.3(GATM):c.282G>A (p.Glu94=)
|
rs141223762
|
0.00016
|
NM_001739.2(CA5A):c.258C>T (p.Ser86=)
|
rs145171357
|
0.00016
|
NM_001875.5(CPS1):c.1550-17_1550-13del
|
rs754222806
|
0.00016
|
NM_001875.5(CPS1):c.6G>A (p.Thr2=)
|
rs374246990
|
0.00016
|
NM_001876.4(CPT1A):c.1770G>A (p.Glu590=)
|
rs61731905
|
0.00016
|
NM_001958.5(EEF1A2):c.789C>T (p.Pro263=)
|
rs148075587
|
0.00016
|
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)
|
rs200186078
|
0.00016
|
NM_003042.4(SLC6A1):c.726T>C (p.Phe242=)
|
rs765861626
|
0.00016
|
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)
|
rs75783492
|
0.00016
|
NM_004408.4(DNM1):c.1335+8G>A
|
rs374438127
|
0.00016
|
NM_004408.4(DNM1):c.2430G>A (p.Gly810=)
|
rs1007155416
|
0.00016
|
NM_005050.4(ABCD4):c.1136C>T (p.Ala379Val)
|
rs149139488
|
0.00016
|
NM_005050.4(ABCD4):c.1539C>T (p.Asp513=)
|
rs201456625
|
0.00016
|
NM_005271.5(GLUD1):c.1402+10G>A
|
rs202067232
|
0.00016
|
NM_005327.7(HADH):c.255C>T (p.Asn85=)
|
rs746650397
|
0.00016
|
NM_005518.4(HMGCS2):c.1311G>A (p.Lys437=)
|
rs111284724
|
0.00016
|
NM_005518.4(HMGCS2):c.813A>G (p.Thr271=)
|
rs765772883
|
0.00016
|
NM_005957.5(MTHFR):c.762C>T (p.Pro254=)
|
rs200789362
|
0.00016
|
NM_014251.3(SLC25A13):c.1903G>T (p.Asp635Tyr)
|
rs761035791
|
0.00016
|
NM_014251.3(SLC25A13):c.756G>A (p.Glu252=)
|
rs141152495
|
0.00016
|
NM_014384.3(ACAD8):c.939+11C>T
|
rs372904463
|
0.00016
|
NM_015662.3(IFT172):c.2436C>T (p.Tyr812=)
|
rs143142494
|
0.00016
|
NM_015662.3(IFT172):c.98T>C (p.Val33Ala)
|
rs200884031
|
0.00016
|
NM_016335.6(PRODH):c.1062A>G (p.Leu354=)
|
rs376319831
|
0.00016
|
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His)
|
rs185334169
|
0.00016
|
NM_018706.7(DHTKD1):c.2169G>A (p.Ala723=)
|
rs770278866
|
0.00016
|
NM_018706.7(DHTKD1):c.945A>G (p.Pro315=)
|
rs144254844
|
0.00016
|
NM_020686.6(ABAT):c.1270-14T>C
|
rs200844116
|
0.00016
|
NM_025136.4(OPA3):c.33G>T (p.Leu11=)
|
rs148805518
|
0.00016
|
NM_032601.4(MCEE):c.180G>A (p.Lys60=)
|
rs778261717
|
0.00016
|
NM_058179.4(PSAT1):c.393T>C (p.Tyr131=)
|
rs370268538
|
0.00016
|
NM_145261.4(DNAJC19):c.182G>A (p.Arg61Gln)
|
rs376891597
|
0.00016
|
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)
|
rs202001245
|
0.00016
|
NM_152419.3(HGSNAT):c.321C>T (p.His107=)
|
rs571883806
|
0.00016
|
NM_177550.5(SLC13A5):c.1156+9C>T
|
rs201530285
|
0.00016
|
NM_177550.5(SLC13A5):c.285C>T (p.Ile95=)
|
rs149068818
|
0.00016
|
NM_183050.4(BCKDHB):c.1143G>A (p.Lys381=)
|
rs143579400
|
0.00016
|
NM_205861.3(DHDDS):c.33T>C (p.Leu11=)
|
rs139193738
|
0.00016
|
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=)
|
rs760794308
|
0.00015
|
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)
|
rs780425464
|
0.00015
|
NM_000026.4(ADSL):c.357+6C>T
|
rs181628906
|
0.00015
|
NM_000048.4(ASL):c.1357C>T (p.Arg453Cys)
|
rs144591360
|
0.00015
|
NM_000274.4(OAT):c.772-19T>A
|
rs201585464
|
0.00015
|
NM_000709.4(BCKDHA):c.924C>T (p.Asn308=)
|
rs139390622
|
0.00015
|
NM_001002755.4(NFU1):c.545+11C>T
|
rs775731328
|
0.00015
|
NM_001002755.4(NFU1):c.545+9T>C
|
rs767405381
|
0.00015
|
NM_001024845.3(SLC6A9):c.1017C>T (p.Phe339=)
|
rs200941888
|
0.00015
|
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met)
|
rs778274864
|
0.00015
|
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=)
|
rs768148002
|
0.00015
|
NM_001243279.3(ACSF3):c.72G>A (p.Ala24=)
|
rs752720474
|
0.00015
|
NM_001352514.2(HLCS):c.2526C>T (p.Leu842=)
|
rs147256659
|
0.00015
|
NM_001875.5(CPS1):c.594G>A (p.Gln198=)
|
rs150369462
|
0.00015
|
NM_001876.4(CPT1A):c.357C>T (p.Ile119=)
|
rs138011726
|
0.00015
|
NM_001985.3(ETFB):c.264C>T (p.His88=)
|
rs562266125
|
0.00015
|
NM_004453.4(ETFDH):c.1479T>C (p.Phe493=)
|
rs1423401867
|
0.00015
|
NM_004453.4(ETFDH):c.972+13C>T
|
rs199589412
|
0.00015
|
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=)
|
rs200081632
|
0.00015
|
NM_014251.3(SLC25A13):c.1841+11T>C
|
rs370546671
|
0.00015
|
NM_014251.3(SLC25A13):c.408A>G (p.Leu136=)
|
rs188486690
|
0.00015
|
NM_014252.4(SLC25A15):c.789G>A (p.Thr263=)
|
rs144478411
|
0.00015
|
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
|
rs143642515
|
0.00015
|
NM_018706.7(DHTKD1):c.1185C>T (p.Ile395=)
|
rs140878433
|
0.00015
|
NM_054012.4(ASS1):c.330G>A (p.Gly110=)
|
rs780445340
|
0.00015
|
NM_177550.5(SLC13A5):c.1276-19C>A
|
rs200223186
|
0.00015
|
NM_177550.5(SLC13A5):c.504C>T (p.Ala168=)
|
rs141506210
|
0.00015
|
NM_000017.4(ACADS):c.825C>T (p.Ile275=)
|
rs200652158
|
0.00014
|
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=)
|
rs778531268
|
0.00014
|
NM_000018.4(ACADVL):c.759G>A (p.Gly253=)
|
rs148073142
|
0.00014
|
NM_000048.4(ASL):c.1098C>T (p.Pro366=)
|
rs138511394
|
0.00014
|
NM_000048.4(ASL):c.135C>T (p.Tyr45=)
|
rs200619443
|
0.00014
|
NM_000071.3(CBS):c.317-16C>G
|
rs746289953
|
0.00014
|
NM_000159.4(GCDH):c.51G>T (p.Leu17=)
|
rs772706462
|
0.00014
|
NM_000170.3(GLDC):c.1155+11C>T
|
rs369664085
|
0.00014
|
NM_000170.3(GLDC):c.1974C>A (p.Ala658=)
|
rs534062853
|
0.00014
|
NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu)
|
rs145422395
|
0.00014
|
NM_000254.3(MTR):c.2474-19_2474-15del
|
rs781239294
|
0.00014
|
NM_000276.4(OCRL):c.350-5T>C
|
rs200744251
|
0.00014
|
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe)
|
rs760751280
|
0.00014
|
NM_000277.3(PAH):c.442-18G>A
|
rs149538764
|
0.00014
|
NM_000282.4(PCCA):c.231+16G>A
|
rs562491059
|
0.00014
|
NM_000282.4(PCCA):c.914+10C>G
|
rs774298513
|
0.00014
|
NM_000317.3(PTS):c.84-7T>G
|
rs76064679
|
0.00014
|
NM_000320.3(QDPR):c.436+17C>G
|
rs765346239
|
0.00014
|
NM_000329.3(RPE65):c.408C>T (p.Val136=)
|
rs373547092
|
0.00014
|
NM_000360.4(TH):c.372G>A (p.Gly124=)
|
rs773806238
|
0.00014
|
NM_000360.4(TH):c.842-14G>A
|
rs560689972
|
0.00014
|
NM_000481.4(AMT):c.858C>A (p.Gly286=)
|
rs367726589
|
0.00014
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
NM_000709.4(BCKDHA):c.995+19G>A
|
rs373076000
|
0.00014
|
NM_001024845.3(SLC6A9):c.1435+10C>T
|
rs201803106
|
0.00014
|
NM_001024845.3(SLC6A9):c.1721C>T (p.Ala574Val)
|
rs146175246
|
0.00014
|
NM_001024845.3(SLC6A9):c.915C>T (p.Gly305=)
|
rs201467484
|
0.00014
|
NM_001080.3(ALDH5A1):c.62G>A (p.Gly21Asp)
|
rs371923295
|
0.00014
|
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=)
|
rs376684786
|
0.00014
|
NM_001127222.2(CACNA1A):c.5840-7C>T
|
rs372261381
|
0.00014
|
NM_001127222.2(CACNA1A):c.6084G>A (p.Pro2028=)
|
rs374954726
|
0.00014
|
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=)
|
rs745609731
|
0.00014
|
NM_001127222.2(CACNA1A):c.6760G>C (p.Glu2254Gln)
|
rs779063280
|
0.00014
|
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg)
|
rs200971130
|
0.00014
|
NM_001243279.3(ACSF3):c.1613+8T>G
|
rs1358602745
|
0.00014
|
NM_001271.4(CHD2):c.4485G>A (p.Val1495=)
|
rs143356457
|
0.00014
|
NM_001271.4(CHD2):c.891C>T (p.Asp297=)
|
rs567353575
|
0.00014
|
NM_001352514.2(HLCS):c.1474C>A (p.Gln492Lys)
|
rs138844739
|
0.00014
|
NM_001352514.2(HLCS):c.1500C>A (p.Leu500=)
|
rs200631719
|
0.00014
|
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
|
rs376210604
|
0.00014
|
NM_001875.5(CPS1):c.126+18T>A
|
rs201351777
|
0.00014
|
NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr)
|
rs139740322
|
0.00014
|
NM_002150.3(HPD):c.249C>T (p.Gly83=)
|
rs137989475
|
0.00014
|
NM_002225.5(IVD):c.879-5G>A
|
rs750569823
|
0.00014
|
NM_002860.4(ALDH18A1):c.959A>G (p.Gln320Arg)
|
rs143635402
|
0.00014
|
NM_003042.4(SLC6A1):c.1092G>A (p.Ala364=)
|
rs199998696
|
0.00014
|
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)
|
rs150457229
|
0.00014
|
NM_003748.4(ALDH4A1):c.1138-20G>A
|
rs574681452
|
0.00014
|
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=)
|
rs146882697
|
0.00014
|
NM_004975.4(KCNB1):c.1551G>A (p.Ser517=)
|
rs377030406
|
0.00014
|
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=)
|
rs199916332
|
0.00014
|
NM_005334.3(HCFC1):c.3282C>T (p.Ala1094=)
|
rs372258214
|
0.00014
|
NM_005881.4(BCKDK):c.588G>A (p.Ser196=)
|
rs150773521
|
0.00014
|
NM_005957.5(MTHFR):c.1401G>A (p.Leu467=)
|
rs146554888
|
0.00014
|
NM_005957.5(MTHFR):c.781-12T>C
|
rs376833963
|
0.00014
|
NM_005957.5(MTHFR):c.903G>A (p.Leu301=)
|
rs147979890
|
0.00014
|
NM_006859.4(LIAS):c.31A>T (p.Thr11Ser)
|
rs147516123
|
0.00014
|
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)
|
rs376416252
|
0.00014
|
NM_015509.4(NECAP1):c.714G>A (p.Thr238=)
|
rs759118416
|
0.00014
|
NM_015662.3(IFT172):c.1524+20C>T
|
rs201838139
|
0.00014
|
NM_015662.3(IFT172):c.3041A>T (p.Asp1014Val)
|
rs200961120
|
0.00014
|
NM_016335.6(PRODH):c.873C>T (p.Ile291=)
|
rs146652616
|
0.00014
|
NM_018706.7(DHTKD1):c.1956T>C (p.Ile652=)
|
rs375353018
|
0.00014
|
NM_022132.5(MCCC2):c.114C>G (p.Gly38=)
|
rs750638270
|
0.00014
|
NM_030813.6(CLPB):c.671G>A (p.Arg224Gln)
|
rs770932848
|
0.00014
|
NM_052845.4(MMAB):c.678T>C (p.Tyr226=)
|
rs111678627
|
0.00014
|
NM_054012.4(ASS1):c.351C>T (p.Gly117=)
|
rs2228429
|
0.00014
|
NM_054012.4(ASS1):c.858A>T (p.Ala286=)
|
rs201905628
|
0.00014
|
NM_058179.4(PSAT1):c.571-19A>T
|
rs202227339
|
0.00014
|
NM_145261.4(DNAJC19):c.3+16C>T
|
rs367841424
|
0.00014
|
NM_172250.3(MMAA):c.729C>T (p.Thr243=)
|
rs138111772
|
0.00014
|
NM_177550.5(SLC13A5):c.144C>T (p.Tyr48=)
|
rs138537951
|
0.00014
|
NM_177550.5(SLC13A5):c.927G>A (p.Leu309=)
|
rs141287518
|
0.00014
|
NM_201253.3(CRB1):c.1192G>A (p.Val398Ile)
|
rs144011428
|
0.00014
|
NM_201253.3(CRB1):c.2018A>G (p.Lys673Arg)
|
rs145956521
|
0.00014
|
NM_205861.3(DHDDS):c.990T>C (p.Thr330=)
|
rs773902080
|
0.00014
|
NM_000018.4(ACADVL):c.756T>C (p.Asn252=)
|
rs143233413
|
0.00013
|
NM_000026.4(ADSL):c.735A>T (p.Arg245=)
|
rs143977255
|
0.00013
|
NM_000048.4(ASL):c.1056G>A (p.Thr352=)
|
rs745476328
|
0.00013
|
NM_000048.4(ASL):c.1143+13C>A
|
rs202069416
|
0.00013
|
NM_000048.4(ASL):c.1383A>C (p.Ala461=)
|
rs139531479
|
0.00013
|
NM_000048.4(ASL):c.719-12C>A
|
rs578174223
|
0.00013
|
NM_000071.3(CBS):c.1039+20G>A
|
rs548871653
|
0.00013
|
NM_000071.3(CBS):c.1041T>A (p.Gly347=)
|
rs573954005
|
0.00013
|
NM_000071.3(CBS):c.133C>T (p.Arg45Trp)
|
rs201372812
|
0.00013
|
NM_000071.3(CBS):c.1341C>T (p.Pro447=)
|
rs371493662
|
0.00013
|
NM_000071.3(CBS):c.1539C>T (p.His513=)
|
rs187828882
|
0.00013
|
NM_000071.3(CBS):c.474G>A (p.Ala158=)
|
rs189362155
|
0.00013
|
NM_000071.3(CBS):c.489T>C (p.Tyr163=)
|
rs61735858
|
0.00013
|
NM_000156.6(GAMT):c.575C>T (p.Thr192Met)
|
rs141066224
|
0.00013
|
NM_000170.3(GLDC):c.1851-9C>G
|
rs377751310
|
0.00013
|
NM_000170.3(GLDC):c.2334G>A (p.Pro778=)
|
rs191795314
|
0.00013
|
NM_000182.5(HADHA):c.68-13T>C
|
rs182123964
|
0.00013
|
NM_000187.4(HGD):c.1176C>T (p.Ala392=)
|
rs368805723
|
0.00013
|
NM_000187.4(HGD):c.231C>T (p.Asp77=)
|
rs147017317
|
0.00013
|
NM_000254.3(MTR):c.2043+10A>G
|
rs375005444
|
0.00013
|
NM_000254.3(MTR):c.2405+13C>T
|
rs761948163
|
0.00013
|
NM_000254.3(MTR):c.35-19A>G
|
rs372886393
|
0.00013
|
NM_000274.4(OAT):c.1160-13T>A
|
rs372850085
|
0.00013
|
NM_000274.4(OAT):c.736C>T (p.Leu246=)
|
rs146882296
|
0.00013
|
NM_000276.4(OCRL):c.1184C>T (p.Ala395Val)
|
rs145139567
|
0.00013
|
NM_000276.4(OCRL):c.1587C>G (p.Ala529=)
|
rs375634816
|
0.00013
|
NM_000282.4(PCCA):c.862A>C (p.Arg288=)
|
rs121964957
|
0.00013
|
NM_000387.6(SLC25A20):c.535+6C>T
|
rs199770033
|
0.00013
|
NM_000531.6(OTC):c.390A>G (p.Val130=)
|
rs149795059
|
0.00013
|
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=)
|
rs151227241
|
0.00013
|
NM_001080.3(ALDH5A1):c.859A>G (p.Thr287Ala)
|
rs369156704
|
0.00013
|
NM_001127222.2(CACNA1A):c.4388+8G>A
|
rs376248243
|
0.00013
|
NM_001127222.2(CACNA1A):c.539+20C>T
|
rs369959565
|
0.00013
|
NM_001127222.2(CACNA1A):c.539+9C>T
|
rs369146237
|
0.00013
|
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp)
|
rs139902499
|
0.00013
|
NM_001370658.1(BTD):c.400-4C>T
|
rs372355662
|
0.00013
|
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
|
rs148708735
|
0.00013
|
NM_001958.5(EEF1A2):c.843G>A (p.Ala281=)
|
rs139282309
|
0.00013
|
NM_002454.3(MTRR):c.138A>G (p.Leu46=)
|
rs200682655
|
0.00013
|
NM_003748.4(ALDH4A1):c.1650A>G (p.Thr550=)
|
rs202214117
|
0.00013
|
NM_003982.4(SLC7A7):c.249C>T (p.Ser83=)
|
rs146077876
|
0.00013
|
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)
|
rs139270936
|
0.00013
|
NM_004974.4(KCNA2):c.618C>T (p.Ser206=)
|
rs566902174
|
0.00013
|
NM_005050.4(ABCD4):c.775A>T (p.Thr259Ser)
|
rs201664321
|
0.00013
|
NM_005050.4(ABCD4):c.867C>T (p.Ile289=)
|
rs138775118
|
0.00013
|
NM_005334.3(HCFC1):c.1605+16T>G
|
rs375698764
|
0.00013
|
NM_005629.4(SLC6A8):c.1281C>T (p.Thr427=)
|
rs368950125
|
0.00013
|
NM_006623.4(PHGDH):c.743C>T (p.Ala248Val)
|
rs201782441
|
0.00013
|
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)
|
rs34258482
|
0.00013
|
NM_015662.3(IFT172):c.2877+16G>A
|
rs371011283
|
0.00013
|
NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys)
|
rs186020523
|
0.00013
|
NM_054012.4(ASS1):c.549G>A (p.Glu183=)
|
rs747401210
|
0.00013
|
NM_152419.3(HGSNAT):c.1128+8A>G
|
rs371054148
|
0.00013
|
NM_177550.5(SLC13A5):c.103-15G>A
|
rs374410291
|
0.00013
|
NM_177550.5(SLC13A5):c.1291G>A (p.Val431Met)
|
rs201036096
|
0.00013
|
NM_177550.5(SLC13A5):c.681G>A (p.Thr227=)
|
rs139698810
|
0.00013
|
NM_177550.5(SLC13A5):c.882C>T (p.Asn294=)
|
rs143504660
|
0.00013
|
NM_183050.4(BCKDHB):c.168C>T (p.Phe56=)
|
rs747705382
|
0.00013
|
NM_000017.4(ACADS):c.46+20G>C
|
rs561966080
|
0.00012
|
NM_000019.4(ACAT1):c.1164-14T>C
|
rs111849528
|
0.00012
|
NM_000071.3(CBS):c.828+16G>A
|
rs527276612
|
0.00012
|
NM_000108.5(DLD):c.549G>A (p.Thr183=)
|
rs150630885
|
0.00012
|
NM_000137.4(FAH):c.1077C>T (p.Phe359=)
|
rs145570259
|
0.00012
|
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
NM_000137.4(FAH):c.864C>T (p.Cys288=)
|
rs370273424
|
0.00012
|
NM_000159.4(GCDH):c.894G>A (p.Ala298=)
|
rs150834108
|
0.00012
|
NM_000170.3(GLDC):c.1752T>C (p.Pro584=)
|
rs150647379
|
0.00012
|
NM_000170.3(GLDC):c.713+17G>A
|
rs201230226
|
0.00012
|
NM_000182.5(HADHA):c.1085+17G>A
|
rs183045060
|
0.00012
|
NM_000282.4(PCCA):c.300+20G>T
|
rs371217257
|
0.00012
|
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=)
|
rs150870922
|
0.00012
|
NM_000360.4(TH):c.108G>A (p.Gly36=)
|
rs372002058
|
0.00012
|
NM_000360.4(TH):c.1105-12G>C
|
rs367966462
|
0.00012
|
NM_000360.4(TH):c.91-896G>A
|
rs376736869
|
0.00012
|
NM_000481.4(AMT):c.961G>A (p.Val321Met)
|
rs149457059
|
0.00012
|
NM_000531.6(OTC):c.534G>A (p.Thr178=)
|
rs775895740
|
0.00012
|
NM_000554.6(CRX):c.537G>A (p.Leu179=)
|
rs753262074
|
0.00012
|
NM_000554.6(CRX):c.765C>T (p.Gly255=)
|
rs145913500
|
0.00012
|
NM_001010867.4(IBA57):c.801C>T (p.Ala267=)
|
rs138699407
|
0.00012
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
NM_001127222.2(CACNA1A):c.6526+11C>G
|
rs767916527
|
0.00012
|
NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln)
|
rs373192655
|
0.00012
|
NM_001243279.3(ACSF3):c.1502-18C>G
|
rs759372180
|
0.00012
|
NM_001243279.3(ACSF3):c.387T>C (p.His129=)
|
rs150050697
|
0.00012
|
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=)
|
rs756300619
|
0.00012
|
NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu)
|
rs145470870
|
0.00012
|
NM_001352514.2(HLCS):c.1938G>A (p.Ala646=)
|
rs370347318
|
0.00012
|
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
|
rs200453837
|
0.00012
|
NM_001482.3(GATM):c.288+20_288+21del
|
rs748043870
|
0.00012
|
NM_001482.3(GATM):c.801A>C (p.Ala267=)
|
rs371507418
|
0.00012
|
NM_001958.5(EEF1A2):c.621+10G>A
|
rs750169560
|
0.00012
|
NM_003042.4(SLC6A1):c.1191+8_1191+9insA
|
rs761247510
|
0.00012
|
NM_004937.3(CTNS):c.480C>T (p.Phe160=)
|
rs147565118
|
0.00012
|
NM_004975.4(KCNB1):c.2364G>A (p.Thr788=)
|
rs112132596
|
0.00012
|
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=)
|
rs782484757
|
0.00012
|
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=)
|
rs782566624
|
0.00012
|
NM_006623.4(PHGDH):c.390C>T (p.Asp130=)
|
rs148078511
|
0.00012
|
NM_006623.4(PHGDH):c.643+17A>C
|
rs772910115
|
0.00012
|
NM_006623.4(PHGDH):c.644-12G>A
|
rs370255821
|
0.00012
|
NM_014251.3(SLC25A13):c.849-4A>G
|
rs368491877
|
0.00012
|
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)
|
rs142236568
|
0.00012
|
NM_014384.3(ACAD8):c.178A>G (p.Met60Val)
|
rs374985215
|
0.00012
|
NM_015509.4(NECAP1):c.196+12G>A
|
rs371530521
|
0.00012
|
NM_015662.3(IFT172):c.184-10A>T
|
rs546122503
|
0.00012
|
NM_015662.3(IFT172):c.2343A>G (p.Lys781=)
|
rs374062028
|
0.00012
|
NM_015662.3(IFT172):c.2442+16T>A
|
rs189737111
|
0.00012
|
NM_015662.3(IFT172):c.2642+13G>A
|
rs201243826
|
0.00012
|
NM_015662.3(IFT172):c.39+13G>A
|
rs747789616
|
0.00012
|
NM_015662.3(IFT172):c.5161-12A>G
|
rs368863616
|
0.00012
|
NM_015662.3(IFT172):c.918A>G (p.Leu306=)
|
rs746380795
|
0.00012
|
NM_016335.6(PRODH):c.1105-10C>T
|
rs200237251
|
0.00012
|
NM_020686.6(ABAT):c.735C>T (p.Ile245=)
|
rs367831947
|
0.00012
|
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln)
|
rs145846295
|
0.00012
|
NM_054012.4(ASS1):c.489C>T (p.Tyr163=)
|
rs377319610
|
0.00012
|
NM_152419.3(HGSNAT):c.1378-20T>G
|
rs376109017
|
0.00012
|
NM_153006.3(NAGS):c.1096+8C>T
|
rs371563014
|
0.00012
|
NM_153006.3(NAGS):c.939C>T (p.Pro313=)
|
rs749692636
|
0.00012
|
NM_177550.5(SLC13A5):c.369-12C>T
|
rs375349735
|
0.00012
|
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)
|
rs62636290
|
0.00012
|
NM_201253.3(CRB1):c.4071G>A (p.Leu1357=)
|
rs765722225
|
0.00012
|
NM_000017.4(ACADS):c.255C>T (p.Pro85=)
|
rs113118479
|
0.00011
|
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)
|
rs143172658
|
0.00011
|
NM_000026.4(ADSL):c.482+9T>C
|
rs770663865
|
0.00011
|
NM_000048.4(ASL):c.1047C>G (p.Val349=)
|
rs187877947
|
0.00011
|
NM_000048.4(ASL):c.1062+14C>A
|
rs776422245
|
0.00011
|
NM_000048.4(ASL):c.1302G>A (p.Val434=)
|
rs141705502
|
0.00011
|
NM_000108.5(DLD):c.267+9G>A
|
rs188936529
|
0.00011
|
NM_000137.4(FAH):c.553+15C>T
|
rs368509674
|
0.00011
|
NM_000137.4(FAH):c.961-15G>A
|
rs376633948
|
0.00011
|
NM_000137.4(FAH):c.996C>T (p.His332=)
|
rs182877963
|
0.00011
|
NM_000159.4(GCDH):c.102G>A (p.Gly34=)
|
rs770942722
|
0.00011
|
NM_000159.4(GCDH):c.552C>T (p.Ser184=)
|
rs144887422
|
0.00011
|
NM_000170.3(GLDC):c.1926+6T>C
|
rs200007891
|
0.00011
|
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)
|
rs117460214
|
0.00011
|
NM_000170.3(GLDC):c.255+8C>T
|
rs202086134
|
0.00011
|
NM_000170.3(GLDC):c.642C>T (p.Asn214=)
|
rs775546889
|
0.00011
|
NM_000182.5(HADHA):c.872G>A (p.Arg291Gln)
|
rs143414408
|
0.00011
|
NM_000187.4(HGD):c.141G>A (p.Ser47=)
|
rs541268108
|
0.00011
|
NM_000240.4(MAOA):c.412-6C>G
|
rs369122751
|
0.00011
|
NM_000254.3(MTR):c.2658G>A (p.Ala886=)
|
rs142537384
|
0.00011
|
NM_000254.3(MTR):c.3204+9G>A
|
rs769109539
|
0.00011
|
NM_000274.4(OAT):c.478G>A (p.Val160Met)
|
rs148433929
|
0.00011
|
NM_000276.4(OCRL):c.351T>G (p.Ala117=)
|
rs764237144
|
0.00011
|
NM_000276.4(OCRL):c.481G>A (p.Asp161Asn)
|
rs372298378
|
0.00011
|
NM_000317.3(PTS):c.372A>T (p.Val124=)
|
rs139969809
|
0.00011
|
NM_000329.3(RPE65):c.1194C>T (p.Asp398=)
|
rs139640666
|
0.00011
|
NM_000329.3(RPE65):c.237C>T (p.Tyr79=)
|
rs371095928
|
0.00011
|
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)
|
rs370262167
|
0.00011
|
NM_000360.4(TH):c.1383G>A (p.Pro461=)
|
rs552808212
|
0.00011
|
NM_000360.4(TH):c.696-7C>T
|
rs780074743
|
0.00011
|
NM_000360.4(TH):c.91-828C>T
|
rs764689284
|
0.00011
|
NM_000481.4(AMT):c.822G>C (p.Gly274=)
|
rs763963724
|
0.00011
|
NM_000532.5(PCCB):c.544-20T>C
|
rs370010917
|
0.00011
|
NM_000709.4(BCKDHA):c.1041G>A (p.Ser347=)
|
rs144276456
|
0.00011
|
NM_001127222.2(CACNA1A):c.1782-6C>T
|
rs201350764
|
0.00011
|
NM_001127222.2(CACNA1A):c.5400+18G>A
|
rs16040
|
0.00011
|
NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=)
|
rs745336852
|
0.00011
|
NM_001127222.2(CACNA1A):c.6573G>A (p.Pro2191=)
|
rs554430594
|
0.00011
|
NM_001127222.2(CACNA1A):c.924G>A (p.Val308=)
|
rs754935637
|
0.00011
|
NM_001243279.3(ACSF3):c.1213G>A (p.Ala405Thr)
|
rs189568082
|
0.00011
|
NM_001243279.3(ACSF3):c.561C>T (p.Val187=)
|
rs113731967
|
0.00011
|
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=)
|
rs139236388
|
0.00011
|
NM_001271.4(CHD2):c.4953C>T (p.Gly1651=)
|
rs201939255
|
0.00011
|
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln)
|
rs201628571
|
0.00011
|
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile)
|
rs368124997
|
0.00011
|
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)
|
rs185480832
|
0.00011
|
NM_001370658.1(BTD):c.1362A>G (p.Glu454=)
|
rs189789794
|
0.00011
|
NM_001370658.1(BTD):c.1438C>T (p.Leu480=)
|
rs150206202
|
0.00011
|
NM_001370658.1(BTD):c.603C>T (p.Phe201=)
|
rs142418812
|
0.00011
|
NM_001609.4(ACADSB):c.960A>T (p.Ile320=)
|
rs147531541
|
0.00011
|
NM_001876.4(CPT1A):c.147C>G (p.Gly49=)
|
rs138011017
|
0.00011
|
NM_001876.4(CPT1A):c.717C>T (p.Tyr239=)
|
rs142954613
|
0.00011
|
NM_001918.5(DBT):c.318T>G (p.Ala106=)
|
rs146259768
|
0.00011
|
NM_002454.3(MTRR):c.198C>T (p.Pro66=)
|
rs776410065
|
0.00011
|
NM_002860.4(ALDH18A1):c.1152+8_1152+9del
|
rs373488364
|
0.00011
|
NM_003042.4(SLC6A1):c.1041T>C (p.His347=)
|
rs371611997
|
0.00011
|
NM_003042.4(SLC6A1):c.987C>T (p.Cys329=)
|
rs141488919
|
0.00011
|
NM_003060.4(SLC22A5):c.952-14T>C
|
rs373018486
|
0.00011
|
NM_003748.4(ALDH4A1):c.1272C>T (p.Ser424=)
|
rs370707645
|
0.00011
|
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)
|
rs11568437
|
0.00011
|
NM_003982.4(SLC7A7):c.549A>C (p.Val183=)
|
rs146945921
|
0.00011
|
NM_004577.4(PSPH):c.624C>T (p.Asn208=)
|
rs146008713
|
0.00011
|
NM_004975.4(KCNB1):c.630G>A (p.Thr210=)
|
rs150723418
|
0.00011
|
NM_005050.4(ABCD4):c.555C>T (p.Leu185=)
|
rs188108983
|
0.00011
|
NM_005271.5(GLUD1):c.195C>T (p.Asn65=)
|
rs760817479
|
0.00011
|
NM_005327.7(HADH):c.144A>C (p.Ala48=)
|
rs79881095
|
0.00011
|
NM_005327.7(HADH):c.827-10C>T
|
rs372610846
|
0.00011
|
NM_005334.3(HCFC1):c.2955G>A (p.Pro985=)
|
rs182541172
|
0.00011
|
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln)
|
rs1273500868
|
0.00011
|
NM_005629.4(SLC6A8):c.1533C>T (p.Ile511=)
|
rs782114947
|
0.00011
|
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=)
|
rs782373793
|
0.00011
|
NM_006623.4(PHGDH):c.139-19A>G
|
rs773408065
|
0.00011
|
NM_012213.3(MLYCD):c.1335C>T (p.Thr445=)
|
rs373675093
|
0.00011
|
NM_012213.3(MLYCD):c.741G>T (p.Gly247=)
|
rs376948469
|
0.00011
|
NM_014251.3(SLC25A13):c.1170G>T (p.Leu390=)
|
rs377724262
|
0.00011
|
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=)
|
rs572717478
|
0.00011
|
NM_014252.4(SLC25A15):c.330A>G (p.Ala110=)
|
rs754666431
|
0.00011
|
NM_014252.4(SLC25A15):c.513T>C (p.His171=)
|
rs200321784
|
0.00011
|
NM_014362.4(HIBCH):c.438+19C>G
|
rs919531257
|
0.00011
|
NM_014362.4(HIBCH):c.79-7T>C
|
rs201950316
|
0.00011
|
NM_014362.4(HIBCH):c.885A>G (p.Gln295=)
|
rs778683855
|
0.00011
|
NM_014384.3(ACAD8):c.1128C>T (p.Tyr376=)
|
rs374692738
|
0.00011
|
NM_015506.3(MMACHC):c.783G>A (p.Gly261=)
|
rs776623221
|
0.00011
|
NM_015509.4(NECAP1):c.196+19C>T
|
rs770618397
|
0.00011
|
NM_015509.4(NECAP1):c.780-13T>C
|
rs200758236
|
0.00011
|
NM_015662.3(IFT172):c.2878-13T>C
|
rs374938451
|
0.00011
|
NM_016579.4(CD320):c.269-13C>A
|
rs200852300
|
0.00011
|
NM_018368.4(LMBRD1):c.1189-15C>G
|
rs774156278
|
0.00011
|
NM_018706.7(DHTKD1):c.2047+12C>T
|
rs368839395
|
0.00011
|
NM_018706.7(DHTKD1):c.2154+19G>A
|
rs375269543
|
0.00011
|
NM_018706.7(DHTKD1):c.2520C>T (p.Pro840=)
|
rs540552818
|
0.00011
|
NM_020166.5(MCCC1):c.1732-9T>A
|
rs370660849
|
0.00011
|
NM_020166.5(MCCC1):c.89+13G>C
|
rs774187137
|
0.00011
|
NM_020686.6(ABAT):c.408G>A (p.Pro136=)
|
rs149959823
|
0.00011
|
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp)
|
rs140220101
|
0.00011
|
NM_032861.4(SERAC1):c.128+8G>A
|
rs766928057
|
0.00011
|
NM_032861.4(SERAC1):c.1404-11G>A
|
rs371357530
|
0.00011
|
NM_032861.4(SERAC1):c.1413T>C (p.Ile471=)
|
rs144641679
|
0.00011
|
NM_032861.4(SERAC1):c.552C>T (p.Ser184=)
|
rs140671987
|
0.00011
|
NM_032861.4(SERAC1):c.711A>G (p.Glu237=)
|
rs144125721
|
0.00011
|
NM_052845.4(MMAB):c.666G>A (p.Thr222=)
|
rs369296142
|
0.00011
|
NM_054012.4(ASS1):c.18C>T (p.Ser6=)
|
rs555717331
|
0.00011
|
NM_054012.4(ASS1):c.963G>A (p.Val321=)
|
rs141053589
|
0.00011
|
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys)
|
rs113824905
|
0.00011
|
NM_145261.4(DNAJC19):c.129+15A>C
|
rs201697391
|
0.00011
|
NM_152419.3(HGSNAT):c.1779C>T (p.Phe593=)
|
rs374463372
|
0.00011
|
NM_172250.3(MMAA):c.440-17A>T
|
rs373100355
|
0.00011
|
NM_177550.5(SLC13A5):c.60C>T (p.Thr20=)
|
rs141481217
|
0.00011
|
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)
|
rs114052315
|
0.00011
|
NM_000016.6(ACADM):c.210T>G (p.Thr70=)
|
rs778891510
|
0.00010
|
NM_000018.4(ACADVL):c.495G>A (p.Glu165=)
|
rs370169077
|
0.00010
|
NM_000018.4(ACADVL):c.62+9G>A
|
rs369512281
|
0.00010
|
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)
|
rs753816946
|
0.00010
|
NM_000026.4(ADSL):c.1102-16G>A
|
rs200428249
|
0.00010
|
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)
|
rs200814886
|
0.00010
|
NM_000071.3(CBS):c.1146-12C>T
|
rs199550738
|
0.00010
|
NM_000071.3(CBS):c.151A>C (p.Arg51=)
|
rs754759237
|
0.00010
|
NM_000071.3(CBS):c.1524C>T (p.Phe508=)
|
rs748610628
|
0.00010
|
NM_000071.3(CBS):c.1575T>C (p.Ser525=)
|
rs150037641
|
0.00010
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
NM_000108.5(DLD):c.337+7A>G
|
rs371072449
|
0.00010
|
NM_000108.5(DLD):c.876-6A>T
|
rs199944006
|
0.00010
|
NM_000137.4(FAH):c.648C>A (p.Ile216=)
|
rs147016995
|
0.00010
|
NM_000170.3(GLDC):c.2203-12C>T
|
rs767258496
|
0.00010
|
NM_000182.5(HADHA):c.810G>A (p.Ala270=)
|
rs376632479
|
0.00010
|
NM_000187.4(HGD):c.111C>T (p.Tyr37=)
|
rs772792095
|
0.00010
|
NM_000240.4(MAOA):c.1262+6A>G
|
rs765738971
|
0.00010
|
NM_000254.3(MTR):c.3552C>T (p.Thr1184=)
|
rs760793648
|
0.00010
|
NM_000254.3(MTR):c.866-10C>G
|
rs368755647
|
0.00010
|
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser)
|
rs149293297
|
0.00010
|
NM_000282.4(PCCA):c.2016C>T (p.Ala672=)
|
rs773033856
|
0.00010
|
NM_000320.3(QDPR):c.18T>C (p.Ala6=)
|
rs940829956
|
0.00010
|
NM_000329.3(RPE65):c.859-11C>T
|
rs369772824
|
0.00010
|
NM_000360.4(TH):c.126C>A (p.Ile42=)
|
rs755664117
|
0.00010
|
NM_000360.4(TH):c.1389G>A (p.Thr463=)
|
rs370029424
|
0.00010
|
NM_000481.4(AMT):c.1062C>A (p.Pro354=)
|
rs377227163
|
0.00010
|
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser)
|
rs151078515
|
0.00010
|
NM_000532.5(PCCB):c.555G>A (p.Thr185=)
|
rs543691110
|
0.00010
|
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
|
rs775471043
|
0.00010
|
NM_001010867.4(IBA57):c.1032C>T (p.Ala344=)
|
rs371687353
|
0.00010
|
NM_001024845.3(SLC6A9):c.398A>T (p.Tyr133Phe)
|
rs192630770
|
0.00010
|
NM_001080.3(ALDH5A1):c.738G>A (p.Gln246=)
|
rs372881980
|
0.00010
|
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala)
|
rs373320785
|
0.00010
|
NM_001127222.2(CACNA1A):c.1212C>G (p.Leu404=)
|
rs540579196
|
0.00010
|
NM_001127222.2(CACNA1A):c.4290G>A (p.Ala1430=)
|
rs555959123
|
0.00010
|
NM_001127222.2(CACNA1A):c.5134-4A>G
|
rs200165596
|
0.00010
|
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn)
|
rs368257155
|
0.00010
|
NM_001243279.3(ACSF3):c.1127-5T>C
|
rs200245960
|
0.00010
|
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=)
|
rs749994320
|
0.00010
|
NM_001352514.2(HLCS):c.1194C>T (p.Thr398=)
|
rs149877080
|
0.00010
|
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn)
|
rs139697458
|
0.00010
|
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile)
|
rs183589811
|
0.00010
|
NM_001352514.2(HLCS):c.703G>A (p.Asp235Asn)
|
rs373951547
|
0.00010
|
NM_001370658.1(BTD):c.645C>A (p.Pro215=)
|
rs140769832
|
0.00010
|
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=)
|
rs145295182
|
0.00010
|
NM_001609.4(ACADSB):c.807+10G>A
|
rs367568388
|
0.00010
|
NM_001739.2(CA5A):c.459+10C>T
|
rs368408382
|
0.00010
|
NM_001875.5(CPS1):c.1071C>T (p.Asn357=)
|
rs146683599
|
0.00010
|
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr)
|
rs201340295
|
0.00010
|
NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu)
|
rs373841124
|
0.00010
|
NM_001876.4(CPT1A):c.1092G>A (p.Gln364=)
|
rs199640034
|
0.00010
|
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln)
|
rs757593086
|
0.00010
|
NM_001876.4(CPT1A):c.1569G>A (p.Pro523=)
|
rs754717309
|
0.00010
|
NM_001876.4(CPT1A):c.192C>T (p.Ile64=)
|
rs142691028
|
0.00010
|
NM_001876.4(CPT1A):c.390C>T (p.Leu130=)
|
rs188016546
|
0.00010
|
NM_002454.3(MTRR):c.904-19dup
|
rs1554003810
|
0.00010
|
NM_002860.4(ALDH18A1):c.219C>T (p.Ile73=)
|
rs148228931
|
0.00010
|
NM_002860.4(ALDH18A1):c.4T>C (p.Leu2=)
|
rs755446179
|
0.00010
|
NM_003042.4(SLC6A1):c.837G>C (p.Leu279=)
|
rs141874821
|
0.00010
|
NM_003982.4(SLC7A7):c.1281C>T (p.Cys427=)
|
rs763739193
|
0.00010
|
NM_003982.4(SLC7A7):c.625+10A>G
|
rs200420079
|
0.00010
|
NM_004975.4(KCNB1):c.2105C>T (p.Ala702Val)
|
rs144379782
|
0.00010
|
NM_005050.4(ABCD4):c.1056G>A (p.Leu352=)
|
rs542032495
|
0.00010
|
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=)
|
rs368119827
|
0.00010
|
NM_005518.4(HMGCS2):c.175C>A (p.Leu59Met)
|
rs181428774
|
0.00010
|
NM_005629.4(SLC6A8):c.1570T>A (p.Ser524Thr)
|
rs782703394
|
0.00010
|
NM_005629.4(SLC6A8):c.1653C>T (p.Tyr551=)
|
rs369715906
|
0.00010
|
NM_006623.4(PHGDH):c.1543C>T (p.Leu515=)
|
rs148721434
|
0.00010
|
NM_006623.4(PHGDH):c.643+9G>A
|
rs377674470
|
0.00010
|
NM_012213.3(MLYCD):c.1146C>T (p.Ser382=)
|
rs373273203
|
0.00010
|
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln)
|
rs369201060
|
0.00010
|
NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=)
|
rs148422923
|
0.00010
|
NM_014384.3(ACAD8):c.444G>T (p.Pro148=)
|
rs572820646
|
0.00010
|
NM_014384.3(ACAD8):c.567+12C>T
|
rs375812492
|
0.00010
|
NM_015506.3(MMACHC):c.165G>A (p.Thr55=)
|
rs369883781
|
0.00010
|
NM_015662.3(IFT172):c.337-5C>T
|
rs141086523
|
0.00010
|
NM_015662.3(IFT172):c.3426C>T (p.Pro1142=)
|
rs369463180
|
0.00010
|
NM_016335.6(PRODH):c.273+16G>C
|
rs760963520
|
0.00010
|
NM_016579.4(CD320):c.405C>T (p.Gly135=)
|
rs372005633
|
0.00010
|
NM_018368.4(LMBRD1):c.406-6A>C
|
rs373257303
|
0.00010
|
NM_018706.7(DHTKD1):c.294A>C (p.Gly98=)
|
rs199959700
|
0.00010
|
NM_018706.7(DHTKD1):c.744A>G (p.Leu248=)
|
rs370385309
|
0.00010
|
NM_020166.5(MCCC1):c.762-5T>C
|
rs369355125
|
0.00010
|
NM_020686.6(ABAT):c.489C>T (p.Cys163=)
|
rs200627621
|
0.00010
|
NM_020686.6(ABAT):c.741G>A (p.Pro247=)
|
rs201170840
|
0.00010
|
NM_032601.4(MCEE):c.164T>C (p.Val55Ala)
|
rs374147386
|
0.00010
|
NM_054012.4(ASS1):c.774-17A>G
|
rs372931120
|
0.00010
|
NM_058179.4(PSAT1):c.162C>T (p.Asn54=)
|
rs543844967
|
0.00010
|
NM_058179.4(PSAT1):c.468G>A (p.Thr156=)
|
rs200962308
|
0.00010
|
NM_177550.5(SLC13A5):c.321G>A (p.Lys107=)
|
rs138023567
|
0.00010
|
NM_177550.5(SLC13A5):c.357C>T (p.Ala119=)
|
rs748950933
|
0.00010
|
NM_201253.3(CRB1):c.2652C>A (p.Gly884=)
|
rs555263577
|
0.00010
|
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=)
|
rs62636284
|
0.00010
|
NM_000016.6(ACADM):c.600-19C>T
|
rs747837034
|
0.00009
|
NM_000017.4(ACADS):c.819C>T (p.Ile273=)
|
rs368859841
|
0.00009
|
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)
|
rs777380964
|
0.00009
|
NM_000019.4(ACAT1):c.22C>T (p.Leu8=)
|
rs775668624
|
0.00009
|
NM_000048.4(ASL):c.1044C>T (p.Gly348=)
|
rs147116519
|
0.00009
|
NM_000048.4(ASL):c.524+12G>T
|
rs200700775
|
0.00009
|
NM_000071.3(CBS):c.532-17C>T
|
rs534994500
|
0.00009
|
NM_000156.6(GAMT):c.242C>T (p.Ala81Val)
|
rs751099274
|
0.00009
|
NM_000156.6(GAMT):c.258T>C (p.His86=)
|
rs367871393
|
0.00009
|
NM_000156.6(GAMT):c.270G>A (p.Glu90=)
|
rs138754049
|
0.00009
|
NM_000156.6(GAMT):c.36C>T (p.Pro12=)
|
rs760278546
|
0.00009
|
NM_000159.4(GCDH):c.886G>A (p.Gly296Ser)
|
rs539505767
|
0.00009
|
NM_000161.3(GCH1):c.145C>G (p.Pro49Ala)
|
rs573085618
|
0.00009
|
NM_000170.3(GLDC):c.2151C>T (p.Ile717=)
|
rs1055782169
|
0.00009
|
NM_000170.3(GLDC):c.2175C>T (p.Tyr725=)
|
rs147951756
|
0.00009
|
NM_000170.3(GLDC):c.2457+17T>A
|
rs371788223
|
0.00009
|
NM_000170.3(GLDC):c.471-9C>T
|
rs557572975
|
0.00009
|
NM_000182.5(HADHA):c.1886-16T>C
|
rs376113444
|
0.00009
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00009
|
NM_000182.5(HADHA):c.918+19T>C
|
rs372010520
|
0.00009
|
NM_000187.4(HGD):c.1080G>A (p.Gly360=)
|
rs752713602
|
0.00009
|
NM_000187.4(HGD):c.1206A>G (p.Ser402=)
|
rs140500816
|
0.00009
|
NM_000187.4(HGD):c.993T>C (p.Pro331=)
|
rs747288180
|
0.00009
|
NM_000191.3(HMGCL):c.498-10C>A
|
rs373505626
|
0.00009
|
NM_000254.3(MTR):c.2013C>T (p.Val671=)
|
rs147141232
|
0.00009
|
NM_000254.3(MTR):c.2686C>T (p.Leu896=)
|
rs147762307
|
0.00009
|
NM_000274.4(OAT):c.1015-5C>T
|
rs764963374
|
0.00009
|
NM_000276.4(OCRL):c.72C>G (p.Leu24=)
|
rs772216523
|
0.00009
|
NM_000277.3(PAH):c.60+9C>T
|
rs369454152
|
0.00009
|
NM_000277.3(PAH):c.681G>A (p.Leu227=)
|
rs182135145
|
0.00009
|
NM_000282.4(PCCA):c.2169G>A (p.Leu723=)
|
rs371113202
|
0.00009
|
NM_000282.4(PCCA):c.232-20A>G
|
rs376850891
|
0.00009
|
NM_000317.3(PTS):c.174A>G (p.Thr58=)
|
rs745627441
|
0.00009
|
NM_000320.3(QDPR):c.273C>T (p.Ala91=)
|
rs181584528
|
0.00009
|
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)
|
rs201379753
|
0.00009
|
NM_000329.3(RPE65):c.295G>A (p.Val99Ile)
|
rs143056561
|
0.00009
|
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=)
|
rs148703534
|
0.00009
|
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp)
|
rs150557210
|
0.00009
|
NM_000360.4(TH):c.662G>A (p.Arg221His)
|
rs150559011
|
0.00009
|
NM_000360.4(TH):c.842-17C>T
|
rs991661688
|
0.00009
|
NM_000481.4(AMT):c.463C>T (p.Leu155Phe)
|
rs201233398
|
0.00009
|
NM_000481.4(AMT):c.582C>T (p.Gly194=)
|
rs377552553
|
0.00009
|
NM_000481.4(AMT):c.589G>C (p.Asp197His)
|
rs200550585
|
0.00009
|
NM_000531.6(OTC):c.675G>A (p.Pro225=)
|
rs376129619
|
0.00009
|
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=)
|
rs191375566
|
0.00009
|
NM_000532.5(PCCB):c.373-18T>C
|
rs775972133
|
0.00009
|
NM_000532.5(PCCB):c.885-4A>C
|
rs535943678
|
0.00009
|
NM_000554.6(CRX):c.564C>T (p.Ser188=)
|
rs148622001
|
0.00009
|
NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=)
|
rs200363605
|
0.00009
|
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)
|
rs368567109
|
0.00009
|
NM_001024845.3(SLC6A9):c.1620C>G (p.Gly540=)
|
rs201079660
|
0.00009
|
NM_001024845.3(SLC6A9):c.31-700G>A
|
rs200011312
|
0.00009
|
NM_001024845.3(SLC6A9):c.918C>T (p.Leu306=)
|
rs138394765
|
0.00009
|
NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)
|
rs373315916
|
0.00009
|
NM_001080.3(ALDH5A1):c.727-13T>G
|
rs187404409
|
0.00009
|
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro)
|
rs187259531
|
0.00009
|
NM_001127222.2(CACNA1A):c.2046C>T (p.Gly682=)
|
rs535077726
|
0.00009
|
NM_001127222.2(CACNA1A):c.2105-15C>T
|
rs190471428
|
0.00009
|
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu)
|
rs551380805
|
0.00009
|
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile)
|
rs369742607
|
0.00009
|
NM_001127222.2(CACNA1A):c.3564C>T (p.Asn1188=)
|
rs200209920
|
0.00009
|
NM_001127222.2(CACNA1A):c.3701G>A (p.Arg1234His)
|
rs373183625
|
0.00009
|
NM_001127222.2(CACNA1A):c.3774C>T (p.Ile1258=)
|
rs759641758
|
0.00009
|
NM_001127222.2(CACNA1A):c.3883-18C>T
|
rs745383274
|
0.00009
|
NM_001127222.2(CACNA1A):c.3911A>C (p.Gln1304Pro)
|
rs755279579
|
0.00009
|
NM_001127222.2(CACNA1A):c.4756-4C>T
|
rs199841998
|
0.00009
|
NM_001127222.2(CACNA1A):c.5134-20G>A
|
rs756590078
|
0.00009
|
NM_001127222.2(CACNA1A):c.539+17A>G
|
rs752280152
|
0.00009
|
NM_001127222.2(CACNA1A):c.6051-20G>A
|
rs371831228
|
0.00009
|
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val)
|
rs765051582
|
0.00009
|
NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp)
|
rs751926317
|
0.00009
|
NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp)
|
rs751364653
|
0.00009
|
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=)
|
rs150374081
|
0.00009
|
NM_001258392.3(CLPB):c.1710C>T (p.Leu570=)
|
rs140958543
|
0.00009
|
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
|
rs766600801
|
0.00009
|
NM_001271.4(CHD2):c.1116G>A (p.Glu372=)
|
rs147482358
|
0.00009
|
NM_001271.4(CHD2):c.2792A>G (p.Lys931Arg)
|
rs753058189
|
0.00009
|
NM_001271.4(CHD2):c.5389C>T (p.His1797Tyr)
|
rs754174173
|
0.00009
|
NM_001271.4(CHD2):c.753A>G (p.Glu251=)
|
rs368486032
|
0.00009
|
NM_001352514.2(HLCS):c.2088C>T (p.Val696=)
|
rs150794567
|
0.00009
|
NM_001352514.2(HLCS):c.2283C>T (p.Asn761=)
|
rs138387445
|
0.00009
|
NM_001370658.1(BTD):c.1047G>A (p.Pro349=)
|
rs140890299
|
0.00009
|
NM_001739.2(CA5A):c.244C>A (p.Pro82Thr)
|
rs377135599
|
0.00009
|
NM_001739.2(CA5A):c.774+7C>T
|
rs373877038
|
0.00009
|
NM_001875.5(CPS1):c.1087-7C>T
|
rs202117044
|
0.00009
|
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr)
|
rs201955205
|
0.00009
|
NM_001875.5(CPS1):c.942C>A (p.Ala314=)
|
rs774427324
|
0.00009
|
NM_001876.4(CPT1A):c.1910C>T (p.Ser637Phe)
|
rs150459546
|
0.00009
|
NM_001876.4(CPT1A):c.1959C>T (p.Ile653=)
|
rs556392764
|
0.00009
|
NM_001876.4(CPT1A):c.2028+7C>G
|
rs768465007
|
0.00009
|
NM_001918.5(DBT):c.556-7T>C
|
rs755448648
|
0.00009
|
NM_001958.5(EEF1A2):c.621C>T (p.Asn207=)
|
rs544401782
|
0.00009
|
NM_002150.3(HPD):c.1071+10G>A
|
rs191293267
|
0.00009
|
NM_002150.3(HPD):c.972G>A (p.Val324=)
|
rs200240490
|
0.00009
|
NM_002225.5(IVD):c.1139-9T>C
|
rs373295135
|
0.00009
|
NM_002454.3(MTRR):c.495C>T (p.Gly165=)
|
rs139333376
|
0.00009
|
NM_003042.4(SLC6A1):c.1008C>T (p.Phe336=)
|
rs144261418
|
0.00009
|
NM_003060.4(SLC22A5):c.498-8C>T
|
rs370645111
|
0.00009
|
NM_003060.4(SLC22A5):c.777G>T (p.Leu259=)
|
rs370175430
|
0.00009
|
NM_003060.4(SLC22A5):c.93C>T (p.Pro31=)
|
rs375293546
|
0.00009
|
NM_003748.4(ALDH4A1):c.1677C>T (p.Tyr559=)
|
rs531113108
|
0.00009
|
NM_003748.4(ALDH4A1):c.984C>T (p.Asp328=)
|
rs146741343
|
0.00009
|
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp)
|
rs139619724
|
0.00009
|
NM_003982.4(SLC7A7):c.273G>A (p.Ala91=)
|
rs754387668
|
0.00009
|
NM_004408.4(DNM1):c.1200G>A (p.Thr400=)
|
rs373198034
|
0.00009
|
NM_004408.4(DNM1):c.1315G>A (p.Val439Ile)
|
rs771062230
|
0.00009
|
NM_004408.4(DNM1):c.2364G>A (p.Val788=)
|
rs904300233
|
0.00009
|
NM_004408.4(DNM1):c.797G>A (p.Arg266His)
|
rs200136679
|
0.00009
|
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=)
|
rs377544087
|
0.00009
|
NM_004453.4(ETFDH):c.1764T>C (p.His588=)
|
rs141180629
|
0.00009
|
NM_004577.4(PSPH):c.354T>C (p.His118=)
|
rs373775129
|
0.00009
|
NM_004937.3(CTNS):c.624C>T (p.Phe208=)
|
rs771057130
|
0.00009
|
NM_004937.3(CTNS):c.684C>T (p.Arg228=)
|
rs762346133
|
0.00009
|
NM_004975.4(KCNB1):c.1071C>T (p.Asp357=)
|
rs199964916
|
0.00009
|
NM_004975.4(KCNB1):c.1305T>C (p.Ala435=)
|
rs201403239
|
0.00009
|
NM_004975.4(KCNB1):c.2115C>T (p.Val705=)
|
rs199910304
|
0.00009
|
NM_004975.4(KCNB1):c.2472C>T (p.Gly824=)
|
rs375177375
|
0.00009
|
NM_005271.5(GLUD1):c.102G>C (p.Arg34=)
|
rs896457764
|
0.00009
|
NM_005271.5(GLUD1):c.468G>A (p.Val156=)
|
rs780979729
|
0.00009
|
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=)
|
rs202099968
|
0.00009
|
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=)
|
rs370251100
|
0.00009
|
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=)
|
rs782522290
|
0.00009
|
NM_005629.4(SLC6A8):c.1452C>G (p.Leu484=)
|
rs376421364
|
0.00009
|
NM_005629.4(SLC6A8):c.644+9G>C
|
rs200353790
|
0.00009
|
NM_005629.4(SLC6A8):c.912+15G>A
|
rs1456582785
|
0.00009
|
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=)
|
rs201614853
|
0.00009
|
NM_005957.5(MTHFR):c.1734C>G (p.Val578=)
|
rs145052308
|
0.00009
|
NM_006623.4(PHGDH):c.723C>T (p.Asp241=)
|
rs150682021
|
0.00009
|
NM_006859.4(LIAS):c.129A>G (p.Pro43=)
|
rs377315137
|
0.00009
|
NM_006859.4(LIAS):c.60T>C (p.Tyr20=)
|
rs201996792
|
0.00009
|
NM_014251.3(SLC25A13):c.483G>A (p.Glu161=)
|
rs762752651
|
0.00009
|
NM_014251.3(SLC25A13):c.543C>T (p.Ile181=)
|
rs370372951
|
0.00009
|
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu)
|
rs187685447
|
0.00009
|
NM_014252.4(SLC25A15):c.378C>T (p.Pro126=)
|
rs1331945995
|
0.00009
|
NM_014252.4(SLC25A15):c.55+17C>G
|
rs552201985
|
0.00009
|
NM_014252.4(SLC25A15):c.729T>G (p.Ser243=)
|
rs1007126000
|
0.00009
|
NM_014384.3(ACAD8):c.110-9T>C
|
rs371550147
|
0.00009
|
NM_014384.3(ACAD8):c.173G>A (p.Arg58Gln)
|
rs749474432
|
0.00009
|
NM_014384.3(ACAD8):c.567+8C>T
|
rs574233188
|
0.00009
|
NM_015506.3(MMACHC):c.462T>C (p.Phe154=)
|
rs199747998
|
0.00009
|
NM_015506.3(MMACHC):c.699A>G (p.Leu233=)
|
rs377439596
|
0.00009
|
NM_015509.4(NECAP1):c.252G>A (p.Thr84=)
|
rs149036367
|
0.00009
|
NM_015662.3(IFT172):c.1006-13G>C
|
rs753018358
|
0.00009
|
NM_015662.3(IFT172):c.1608C>T (p.Asp536=)
|
rs749114212
|
0.00009
|
NM_015662.3(IFT172):c.337-4G>A
|
rs374002706
|
0.00009
|
NM_016335.6(PRODH):c.174G>T (p.Ala58=)
|
rs931875471
|
0.00009
|
NM_016335.6(PRODH):c.220C>T (p.Leu74=)
|
rs1332640987
|
0.00009
|
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=)
|
rs765215874
|
0.00009
|
NM_018368.4(LMBRD1):c.405+8T>C
|
rs375415974
|
0.00009
|
NM_018706.7(DHTKD1):c.1998C>T (p.Gly666=)
|
rs144891795
|
0.00009
|
NM_018706.7(DHTKD1):c.2526G>A (p.Pro842=)
|
rs143353830
|
0.00009
|
NM_018706.7(DHTKD1):c.2613G>A (p.Pro871=)
|
rs139445220
|
0.00009
|
NM_018706.7(DHTKD1):c.930C>T (p.Asp310=)
|
rs149203530
|
0.00009
|
NM_020166.5(MCCC1):c.294C>T (p.Ile98=)
|
rs368288499
|
0.00009
|
NM_020686.6(ABAT):c.1158G>A (p.Pro386=)
|
rs374865268
|
0.00009
|
NM_020686.6(ABAT):c.1392G>A (p.Leu464=)
|
rs140054038
|
0.00009
|
NM_020686.6(ABAT):c.26G>A (p.Arg9His)
|
rs531783337
|
0.00009
|
NM_020686.6(ABAT):c.748C>T (p.Arg250Trp)
|
rs201397255
|
0.00009
|
NM_020686.6(ABAT):c.858G>A (p.Thr286=)
|
rs375480247
|
0.00009
|
NM_030813.6(CLPB):c.736+2T>C
|
rs201350869
|
0.00009
|
NM_052845.4(MMAB):c.387G>A (p.Ala129=)
|
rs549807022
|
0.00009
|
NM_052845.4(MMAB):c.561C>T (p.Ala187=)
|
rs370773720
|
0.00009
|
NM_058179.4(PSAT1):c.571-6T>C
|
rs376067862
|
0.00009
|
NM_152419.3(HGSNAT):c.699A>G (p.Leu233=)
|
rs756091468
|
0.00009
|
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)
|
rs775663094
|
0.00009
|
NM_152542.5(PPM1K):c.960C>T (p.Asn320=)
|
rs779464044
|
0.00009
|
NM_153006.3(NAGS):c.1188C>T (p.Asn396=)
|
rs374040892
|
0.00009
|
NM_153006.3(NAGS):c.1452-11C>T
|
rs371793544
|
0.00009
|
NM_153006.3(NAGS):c.30G>C (p.Leu10=)
|
rs530353203
|
0.00009
|
NM_153006.3(NAGS):c.414C>T (p.Phe138=)
|
rs535765680
|
0.00009
|
NM_153006.3(NAGS):c.912T>C (p.His304=)
|
rs373352475
|
0.00009
|
NM_172250.3(MMAA):c.440-6C>T
|
rs374784209
|
0.00009
|
NM_201253.3(CRB1):c.1189G>C (p.Asp397His)
|
rs114264441
|
0.00009
|
NM_201253.3(CRB1):c.1305A>T (p.Gly435=)
|
rs34813822
|
0.00009
|
NM_201253.3(CRB1):c.1332C>T (p.Gly444=)
|
rs148865280
|
0.00009
|
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)
|
rs114630940
|
0.00009
|
NM_201253.3(CRB1):c.3956T>A (p.Phe1319Tyr)
|
rs559611648
|
0.00009
|
NM_000017.4(ACADS):c.1149C>T (p.Arg383=)
|
rs371323002
|
0.00008
|
NM_000018.4(ACADVL):c.1182+17C>A
|
rs191276923
|
0.00008
|
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)
|
rs577313004
|
0.00008
|
NM_000026.4(ADSL):c.567C>T (p.Val189=)
|
rs765353500
|
0.00008
|
NM_000045.4(ARG1):c.831A>G (p.Glu277=)
|
rs748654016
|
0.00008
|
NM_000048.4(ASL):c.1342G>A (p.Val448Ile)
|
rs139410488
|
0.00008
|
NM_000048.4(ASL):c.603-20A>G
|
rs376008291
|
0.00008
|
NM_000048.4(ASL):c.656-14T>A
|
rs756638742
|
0.00008
|
NM_000048.4(ASL):c.72C>T (p.Phe24=)
|
rs760059034
|
0.00008
|
NM_000071.3(CBS):c.955-19G>A
|
rs780694307
|
0.00008
|
NM_000108.5(DLD):c.1452T>C (p.Cys484=)
|
rs760982359
|
0.00008
|
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=)
|
rs140751478
|
0.00008
|
NM_000137.4(FAH):c.1008C>T (p.Asn336=)
|
rs373285527
|
0.00008
|
NM_000159.4(GCDH):c.127+8C>T
|
rs371007485
|
0.00008
|
NM_000159.4(GCDH):c.1299G>A (p.Ala433=)
|
rs150271870
|
0.00008
|
NM_000159.4(GCDH):c.915G>A (p.Ser305=)
|
rs375120734
|
0.00008
|
NM_000161.3(GCH1):c.147C>G (p.Pro49=)
|
rs377631489
|
0.00008
|
NM_000161.3(GCH1):c.354C>T (p.Asn118=)
|
rs779337121
|
0.00008
|
NM_000170.3(GLDC):c.2053-12T>C
|
rs376968366
|
0.00008
|
NM_000182.5(HADHA):c.1629T>C (p.Pro543=)
|
rs1056729658
|
0.00008
|
NM_000254.3(MTR):c.2196+19G>T
|
rs372533462
|
0.00008
|
NM_000254.3(MTR):c.3126C>T (p.Asp1042=)
|
rs529430607
|
0.00008
|
NM_000276.4(OCRL):c.11C>T (p.Pro4Leu)
|
rs770815981
|
0.00008
|
NM_000277.3(PAH):c.1140G>A (p.Thr380=)
|
rs373763334
|
0.00008
|
NM_000282.4(PCCA):c.1540+20T>C
|
rs754203055
|
0.00008
|
NM_000282.4(PCCA):c.490A>G (p.Ile164Val)
|
rs539693612
|
0.00008
|
NM_000282.4(PCCA):c.638-10C>T
|
rs763390049
|
0.00008
|
NM_000329.3(RPE65):c.94+9C>A
|
rs747174742
|
0.00008
|
NM_000341.4(SLC3A1):c.1011+12T>C
|
rs370288046
|
0.00008
|
NM_000360.4(TH):c.685A>T (p.Ile229Phe)
|
rs778613708
|
0.00008
|
NM_000532.5(PCCB):c.561C>T (p.Ser187=)
|
rs145057852
|
0.00008
|
NM_000709.4(BCKDHA):c.1329C>T (p.Phe443=)
|
rs148224513
|
0.00008
|
NM_000709.4(BCKDHA):c.176C>T (p.Ala59Val)
|
rs138373035
|
0.00008
|
NM_001010867.4(IBA57):c.680-5T>A
|
rs577050962
|
0.00008
|
NM_001017989.3(OPA3):c.406T>C (p.Leu136=)
|
rs535476484
|
0.00008
|
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=)
|
rs377458008
|
0.00008
|
NM_001127222.2(CACNA1A):c.1668+20A>G
|
rs543880615
|
0.00008
|
NM_001127222.2(CACNA1A):c.2010C>T (p.Asn670=)
|
rs779250946
|
0.00008
|
NM_001127222.2(CACNA1A):c.3368G>A (p.Arg1123Gln)
|
rs769497214
|
0.00008
|
NM_001127222.2(CACNA1A):c.3607G>A (p.Glu1203Lys)
|
rs375415852
|
0.00008
|
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)
|
rs201269793
|
0.00008
|
NM_001127222.2(CACNA1A):c.4591-5C>T
|
rs199631921
|
0.00008
|
NM_001127222.2(CACNA1A):c.4779T>C (p.Tyr1593=)
|
rs774619836
|
0.00008
|
NM_001127222.2(CACNA1A):c.5401-10G>A
|
rs370129945
|
0.00008
|
NM_001127222.2(CACNA1A):c.979-10C>A
|
rs374647321
|
0.00008
|
NM_001271.4(CHD2):c.1038C>T (p.Asp346=)
|
rs148706063
|
0.00008
|
NM_001271.4(CHD2):c.4212A>G (p.Gln1404=)
|
rs202074164
|
0.00008
|
NM_001278293.3(ARL6):c.350-7C>T
|
rs375454860
|
0.00008
|
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile)
|
rs376903098
|
0.00008
|
NM_001352514.2(HLCS):c.1923C>T (p.Gly641=)
|
rs746277054
|
0.00008
|
NM_001739.2(CA5A):c.624G>A (p.Ala208=)
|
rs370926490
|
0.00008
|
NM_001875.5(CPS1):c.1836+15A>G
|
rs370795545
|
0.00008
|
NM_001875.5(CPS1):c.3921A>G (p.Ala1307=)
|
rs780550238
|
0.00008
|
NM_001875.5(CPS1):c.528+9A>G
|
rs369476447
|
0.00008
|
NM_001958.5(EEF1A2):c.183C>T (p.Asp61=)
|
rs147929770
|
0.00008
|
NM_001985.3(ETFB):c.565G>A (p.Glu189Lys)
|
rs376065198
|
0.00008
|
NM_002454.3(MTRR):c.1058-17C>T
|
rs754619256
|
0.00008
|
NM_002454.3(MTRR):c.129+10G>A
|
rs6413427
|
0.00008
|
NM_002860.4(ALDH18A1):c.678C>T (p.Val226=)
|
rs772829720
|
0.00008
|
NM_003042.4(SLC6A1):c.1071G>A (p.Ala357=)
|
rs1139553
|
0.00008
|
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=)
|
rs367673752
|
0.00008
|
NM_004408.4(DNM1):c.117C>T (p.Gly39=)
|
rs142432944
|
0.00008
|
NM_004937.3(CTNS):c.633C>T (p.His211=)
|
rs150428029
|
0.00008
|
NM_004974.4(KCNA2):c.1023T>C (p.Leu341=)
|
rs139525148
|
0.00008
|
NM_005327.7(HADH):c.240G>A (p.Lys80=)
|
rs748623569
|
0.00008
|
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=)
|
rs781840891
|
0.00008
|
NM_005334.3(HCFC1):c.1762A>G (p.Thr588Ala)
|
rs782762959
|
0.00008
|
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
|
rs373327413
|
0.00008
|
NM_005629.4(SLC6A8):c.1830C>T (p.Asp610=)
|
rs1803330
|
0.00008
|
NM_005881.4(BCKDK):c.936-10A>G
|
rs374677650
|
0.00008
|
NM_005957.5(MTHFR):c.1155T>C (p.Pro385=)
|
rs113989925
|
0.00008
|
NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp)
|
rs138189536
|
0.00008
|
NM_006623.4(PHGDH):c.1560G>A (p.Ala520=)
|
rs145788723
|
0.00008
|
NM_006623.4(PHGDH):c.780C>T (p.Asp260=)
|
rs146220907
|
0.00008
|
NM_014384.3(ACAD8):c.841+9C>T
|
rs777635296
|
0.00008
|
NM_014384.3(ACAD8):c.842-18G>A
|
rs578153873
|
0.00008
|
NM_015509.4(NECAP1):c.114A>G (p.Leu38=)
|
rs141295769
|
0.00008
|
NM_015662.3(IFT172):c.1983T>A (p.His661Gln)
|
rs150739354
|
0.00008
|
NM_015662.3(IFT172):c.2103C>A (p.Ile701=)
|
rs138604630
|
0.00008
|
NM_015662.3(IFT172):c.2366G>A (p.Arg789Gln)
|
rs148237432
|
0.00008
|
NM_015662.3(IFT172):c.3933G>A (p.Ala1311=)
|
rs143011753
|
0.00008
|
NM_015662.3(IFT172):c.732C>T (p.Thr244=)
|
rs778790509
|
0.00008
|
NM_015702.3(MMADHC):c.600C>T (p.Leu200=)
|
rs754142876
|
0.00008
|
NM_015702.3(MMADHC):c.610-12C>A
|
rs371855955
|
0.00008
|
NM_016335.6(PRODH):c.1011+11C>T
|
rs533126839
|
0.00008
|
NM_016335.6(PRODH):c.733-9C>T
|
rs372502306
|
0.00008
|
NM_018368.4(LMBRD1):c.378G>C (p.Lys126Asn)
|
rs200639044
|
0.00008
|
NM_032861.4(SERAC1):c.1403+11C>T
|
rs369586400
|
0.00008
|
NM_052845.4(MMAB):c.584+15G>A
|
rs750655720
|
0.00008
|
NM_052845.4(MMAB):c.644+7G>A
|
rs147637814
|
0.00008
|
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)
|
rs142447736
|
0.00008
|
NM_054012.4(ASS1):c.1056C>T (p.Ser352=)
|
rs766889925
|
0.00008
|
NM_054012.4(ASS1):c.175-5C>T
|
rs747058030
|
0.00008
|
NM_152419.3(HGSNAT):c.339G>A (p.Leu113=)
|
rs1373363345
|
0.00008
|
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala)
|
rs369469113
|
0.00008
|
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr)
|
rs369975831
|
0.00008
|
NM_153006.3(NAGS):c.1269-18G>A
|
rs369686713
|
0.00008
|
NM_153006.3(NAGS):c.722T>C (p.Val241Ala)
|
rs201142696
|
0.00008
|
NM_177550.5(SLC13A5):c.1365C>T (p.Leu455=)
|
rs572994797
|
0.00008
|
NM_183050.4(BCKDHB):c.840+10A>G
|
rs561940940
|
0.00008
|
NM_201253.3(CRB1):c.2843-10C>T
|
rs535242318
|
0.00008
|
NM_201253.3(CRB1):c.3471C>T (p.Ile1157=)
|
rs533882653
|
0.00008
|
NM_000017.4(ACADS):c.204G>A (p.Ala68=)
|
rs374124706
|
0.00007
|
NM_000017.4(ACADS):c.327C>T (p.Cys109=)
|
rs144083614
|
0.00007
|
NM_000018.4(ACADVL):c.205-7T>C
|
rs760625298
|
0.00007
|
NM_000018.4(ACADVL):c.205-8C>G
|
rs774353448
|
0.00007
|
NM_000019.4(ACAT1):c.239-8T>A
|
rs202030208
|
0.00007
|
NM_000048.4(ASL):c.1134C>T (p.Val378=)
|
rs143883756
|
0.00007
|
NM_000048.4(ASL):c.174C>T (p.Ala58=)
|
rs376104424
|
0.00007
|
NM_000048.4(ASL):c.303T>C (p.Gly101=)
|
rs746665818
|
0.00007
|
NM_000048.4(ASL):c.330A>G (p.Gly110=)
|
rs147464765
|
0.00007
|
NM_000071.3(CBS):c.1338G>A (p.Ala446=)
|
rs373962057
|
0.00007
|
NM_000071.3(CBS):c.345C>T (p.Gly115=)
|
rs374438247
|
0.00007
|
NM_000071.3(CBS):c.888G>A (p.Thr296=)
|
rs769593715
|
0.00007
|
NM_000108.5(DLD):c.119-4G>A
|
rs376605135
|
0.00007
|
NM_000156.6(GAMT):c.201G>A (p.Val67=)
|
rs745986528
|
0.00007
|
NM_000156.6(GAMT):c.396C>A (p.Ile132=)
|
rs200500835
|
0.00007
|
NM_000159.4(GCDH):c.861C>T (p.Phe287=)
|
rs200757991
|
0.00007
|
NM_000161.3(GCH1):c.225C>T (p.Tyr75=)
|
rs961694546
|
0.00007
|
NM_000161.3(GCH1):c.297C>T (p.Ala99=)
|
rs776450369
|
0.00007
|
NM_000170.3(GLDC):c.1850+17T>G
|
rs909283201
|
0.00007
|
NM_000170.3(GLDC):c.661G>A (p.Val221Ile)
|
rs144043066
|
0.00007
|
NM_000182.5(HADHA):c.1515G>A (p.Lys505=)
|
rs543680661
|
0.00007
|
NM_000182.5(HADHA):c.1935G>A (p.Arg645=)
|
rs762246988
|
0.00007
|
NM_000182.5(HADHA):c.2000+9G>A
|
rs200802583
|
0.00007
|
NM_000182.5(HADHA):c.513C>A (p.Thr171=)
|
rs139043179
|
0.00007
|
NM_000254.3(MTR):c.3030C>T (p.Tyr1010=)
|
rs777595935
|
0.00007
|
NM_000254.3(MTR):c.558C>T (p.Gly186=)
|
rs139019399
|
0.00007
|
NM_000274.4(OAT):c.1110C>T (p.Ala370=)
|
rs148325838
|
0.00007
|
NM_000277.3(PAH):c.*144A>G
|
rs375319584
|
0.00007
|
NM_000281.4(PCBD1):c.27C>T (p.Ser9=)
|
rs547375927
|
0.00007
|
NM_000329.3(RPE65):c.95-10T>A
|
rs547374432
|
0.00007
|
NM_000353.3(TAT):c.69C>T (p.Asn23=)
|
rs370850249
|
0.00007
|
NM_000360.4(TH):c.1476G>A (p.Ala492=)
|
rs146945950
|
0.00007
|
NM_000360.4(TH):c.240C>T (p.Ala80=)
|
rs371658705
|
0.00007
|
NM_000481.4(AMT):c.159G>A (p.Ala53=)
|
rs201080782
|
0.00007
|
NM_000481.4(AMT):c.713C>T (p.Ala238Val)
|
rs199985521
|
0.00007
|
NM_000532.5(PCCB):c.430-5C>G
|
rs369339939
|
0.00007
|
NM_000532.5(PCCB):c.941A>G (p.Tyr314Cys)
|
rs148578333
|
0.00007
|
NM_000554.6(CRX):c.100+8C>T
|
rs375411321
|
0.00007
|
NM_000554.6(CRX):c.159G>A (p.Glu53=)
|
rs767773596
|
0.00007
|
NM_000554.6(CRX):c.253-11T>C
|
rs199991284
|
0.00007
|
NM_000687.4(AHCY):c.945C>T (p.Ala315=)
|
rs368716358
|
0.00007
|
NM_000709.4(BCKDHA):c.1167+14G>A
|
rs775372632
|
0.00007
|
NM_000709.4(BCKDHA):c.517C>T (p.Leu173=)
|
rs747591833
|
0.00007
|
NM_001010867.4(IBA57):c.150C>T (p.Cys50=)
|
rs765132163
|
0.00007
|
NM_001127222.2(CACNA1A):c.2172+9G>A
|
rs368353124
|
0.00007
|
NM_001127222.2(CACNA1A):c.2783C>T (p.Pro928Leu)
|
rs754998423
|
0.00007
|
NM_001127222.2(CACNA1A):c.2788C>T (p.Arg930Trp)
|
rs367882437
|
0.00007
|
NM_001127222.2(CACNA1A):c.4338G>A (p.Leu1446=)
|
rs371952826
|
0.00007
|
NM_001127222.2(CACNA1A):c.5394G>A (p.Ser1798=)
|
rs201681631
|
0.00007
|
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=)
|
rs371972266
|
0.00007
|
NM_001127222.2(CACNA1A):c.6527-16C>T
|
rs752985059
|
0.00007
|
NM_001258392.3(CLPB):c.921C>T (p.Phe307=)
|
rs561993207
|
0.00007
|
NM_001271.4(CHD2):c.1174A>G (p.Thr392Ala)
|
rs754295120
|
0.00007
|
NM_001271.4(CHD2):c.2506-11T>G
|
rs376323635
|
0.00007
|
NM_001271.4(CHD2):c.2578-18A>G
|
rs375711428
|
0.00007
|
NM_001271.4(CHD2):c.2703G>A (p.Ala901=)
|
rs776453723
|
0.00007
|
NM_001271.4(CHD2):c.2728-12C>G
|
rs544624674
|
0.00007
|
NM_001271.4(CHD2):c.4977C>T (p.Ser1659=)
|
rs769365893
|
0.00007
|
NM_001271.4(CHD2):c.984G>A (p.Gln328=)
|
rs944181807
|
0.00007
|
NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys)
|
rs745652723
|
0.00007
|
NM_001352514.2(HLCS):c.816C>T (p.Ala272=)
|
rs376665169
|
0.00007
|
NM_001370658.1(BTD):c.1344C>T (p.Phe448=)
|
rs781065270
|
0.00007
|
NM_001370658.1(BTD):c.1539G>A (p.Ala513=)
|
rs745376296
|
0.00007
|
NM_001482.3(GATM):c.1041C>T (p.Asp347=)
|
rs139599307
|
0.00007
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
NM_001875.5(CPS1):c.487G>A (p.Gly163Arg)
|
rs200214298
|
0.00007
|
NM_001876.4(CPT1A):c.2154C>T (p.Asp718=)
|
rs141868515
|
0.00007
|
NM_001876.4(CPT1A):c.525G>A (p.Pro175=)
|
rs371805329
|
0.00007
|
NM_001876.4(CPT1A):c.694-10C>T
|
rs201198921
|
0.00007
|
NM_001958.5(EEF1A2):c.171C>T (p.Ala57=)
|
rs572244463
|
0.00007
|
NM_001958.5(EEF1A2):c.369C>T (p.Phe123=)
|
rs375710105
|
0.00007
|
NM_001985.3(ETFB):c.18G>C (p.Val6=)
|
rs572600030
|
0.00007
|
NM_001985.3(ETFB):c.402A>G (p.Thr134=)
|
rs754039782
|
0.00007
|
NM_002225.5(IVD):c.903C>T (p.His301=)
|
rs759116078
|
0.00007
|
NM_002454.3(MTRR):c.21A>G (p.Leu7=)
|
rs114427781
|
0.00007
|
NM_002454.3(MTRR):c.519A>G (p.Ala173=)
|
rs776844185
|
0.00007
|
NM_003042.4(SLC6A1):c.1335T>C (p.Tyr445=)
|
rs758040188
|
0.00007
|
NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn)
|
rs577131769
|
0.00007
|
NM_003748.4(ALDH4A1):c.179G>A (p.Arg60Gln)
|
rs114609576
|
0.00007
|
NM_003982.4(SLC7A7):c.1431G>A (p.Gly477=)
|
rs201993411
|
0.00007
|
NM_004408.4(DNM1):c.1422+18C>T
|
rs747813685
|
0.00007
|
NM_004408.4(DNM1):c.1772C>T (p.Thr591Met)
|
rs772239774
|
0.00007
|
NM_004937.3(CTNS):c.80C>A (p.Thr27Asn)
|
rs576315457
|
0.00007
|
NM_004974.4(KCNA2):c.30C>T (p.Asp10=)
|
rs757960714
|
0.00007
|
NM_004975.4(KCNB1):c.2091C>T (p.Asn697=)
|
rs746382408
|
0.00007
|
NM_005050.4(ABCD4):c.447C>T (p.Asp149=)
|
rs143479125
|
0.00007
|
NM_005050.4(ABCD4):c.504G>A (p.Pro168=)
|
rs753233201
|
0.00007
|
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys)
|
rs781949446
|
0.00007
|
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=)
|
rs374047752
|
0.00007
|
NM_005629.4(SLC6A8):c.387G>T (p.Leu129=)
|
rs1448790929
|
0.00007
|
NM_005881.4(BCKDK):c.721C>T (p.Leu241=)
|
rs374121679
|
0.00007
|
NM_005957.5(MTHFR):c.885C>G (p.Arg295=)
|
rs371474040
|
0.00007
|
NM_006623.4(PHGDH):c.261C>T (p.Ala87=)
|
rs761309245
|
0.00007
|
NM_006623.4(PHGDH):c.511-7C>T
|
rs748335207
|
0.00007
|
NM_006859.4(LIAS):c.1116C>G (p.Leu372=)
|
rs376183576
|
0.00007
|
NM_012213.3(MLYCD):c.1278C>T (p.Asn426=)
|
rs367874845
|
0.00007
|
NM_014251.3(SLC25A13):c.6G>T (p.Ala2=)
|
rs774562949
|
0.00007
|
NM_014384.3(ACAD8):c.984C>T (p.Ala328=)
|
rs766640729
|
0.00007
|
NM_015662.3(IFT172):c.1525-19C>T
|
rs764463970
|
0.00007
|
NM_015662.3(IFT172):c.3711+17A>G
|
rs376488082
|
0.00007
|
NM_015662.3(IFT172):c.4491C>T (p.Ala1497=)
|
rs774451726
|
0.00007
|
NM_015662.3(IFT172):c.4816-8T>C
|
rs371396353
|
0.00007
|
NM_015702.3(MMADHC):c.513C>G (p.Gly171=)
|
rs373384350
|
0.00007
|
NM_018706.7(DHTKD1):c.1419G>A (p.Thr473=)
|
rs370218003
|
0.00007
|
NM_018706.7(DHTKD1):c.718-5A>G
|
rs374421488
|
0.00007
|
NM_020686.6(ABAT):c.1488A>G (p.Leu496=)
|
rs772187224
|
0.00007
|
NM_020686.6(ABAT):c.330C>T (p.Pro110=)
|
rs142857998
|
0.00007
|
NM_020686.6(ABAT):c.864C>T (p.Ala288=)
|
rs149855547
|
0.00007
|
NM_020686.6(ABAT):c.955-7C>T
|
rs771443083
|
0.00007
|
NM_022132.5(MCCC2):c.1488+10G>A
|
rs190514867
|
0.00007
|
NM_022132.5(MCCC2):c.738+16C>T
|
rs554502924
|
0.00007
|
NM_054012.4(ASS1):c.174+10G>A
|
rs371597908
|
0.00007
|
NM_058179.4(PSAT1):c.121+16G>A
|
rs184944122
|
0.00007
|
NM_145261.4(DNAJC19):c.280+2dup
|
rs756616792
|
0.00007
|
NM_172250.3(MMAA):c.733+13T>C
|
rs768662983
|
0.00007
|
NM_177550.5(SLC13A5):c.1074T>C (p.Thr358=)
|
rs369156060
|
0.00007
|
NM_177550.5(SLC13A5):c.1461G>A (p.Pro487=)
|
rs374067396
|
0.00007
|
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala)
|
rs533227950
|
0.00007
|
NM_201253.3(CRB1):c.3372A>G (p.Gln1124=)
|
rs376135634
|
0.00007
|
NM_201253.3(CRB1):c.825G>A (p.Gly275=)
|
rs149685264
|
0.00007
|
NM_000016.6(ACADM):c.1032T>A (p.Val344=)
|
rs774315514
|
0.00006
|
NM_000016.6(ACADM):c.582C>T (p.Asn194=)
|
rs778535261
|
0.00006
|
NM_000016.6(ACADM):c.945+9A>G
|
rs768654898
|
0.00006
|
NM_000017.4(ACADS):c.1050G>T (p.Leu350=)
|
rs768748973
|
0.00006
|
NM_000017.4(ACADS):c.225C>T (p.Gly75=)
|
rs370478896
|
0.00006
|
NM_000017.4(ACADS):c.624+11C>T
|
rs763811046
|
0.00006
|
NM_000018.4(ACADVL):c.264C>T (p.Phe88=)
|
rs147357106
|
0.00006
|
NM_000018.4(ACADVL):c.62+18G>A
|
rs780776419
|
0.00006
|
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)
|
rs367713788
|
0.00006
|
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
|
rs372169445
|
0.00006
|
NM_000045.4(ARG1):c.135T>C (p.Cys45=)
|
rs372415368
|
0.00006
|
NM_000045.4(ARG1):c.333T>C (p.His111=)
|
rs200458963
|
0.00006
|
NM_000048.4(ASL):c.1293G>A (p.Gly431=)
|
rs977248418
|
0.00006
|
NM_000048.4(ASL):c.207+10G>A
|
rs754479563
|
0.00006
|
NM_000048.4(ASL):c.207+9C>T
|
rs766219256
|
0.00006
|
NM_000048.4(ASL):c.401G>A (p.Gly134Asp)
|
rs201352504
|
0.00006
|
NM_000048.4(ASL):c.656-4C>A
|
rs571362354
|
0.00006
|
NM_000048.4(ASL):c.849G>C (p.Leu283=)
|
rs771334759
|
0.00006
|
NM_000048.4(ASL):c.919-10C>T
|
rs199585001
|
0.00006
|
NM_000071.3(CBS):c.1161C>T (p.Ser387=)
|
rs149280976
|
0.00006
|
NM_000071.3(CBS):c.1266G>A (p.Pro422=)
|
rs150146702
|
0.00006
|
NM_000071.3(CBS):c.1413G>C (p.Gly471=)
|
rs777859460
|
0.00006
|
NM_000071.3(CBS):c.1425G>A (p.Pro475=)
|
rs147885808
|
0.00006
|
NM_000071.3(CBS):c.1626C>T (p.Phe542=)
|
rs758818777
|
0.00006
|
NM_000071.3(CBS):c.452-12G>T
|
rs780064320
|
0.00006
|
NM_000071.3(CBS):c.612G>C (p.Val204=)
|
rs539670390
|
0.00006
|
NM_000071.3(CBS):c.69G>A (p.Ser23=)
|
rs769704501
|
0.00006
|
NM_000071.3(CBS):c.737-10C>T
|
rs546751042
|
0.00006
|
NM_000071.3(CBS):c.786G>A (p.Thr262=)
|
rs551782391
|
0.00006
|
NM_000071.3(CBS):c.828+20C>T
|
rs771093015
|
0.00006
|
NM_000071.3(CBS):c.954+7C>T
|
rs554429567
|
0.00006
|
NM_000108.5(DLD):c.609T>C (p.Ser203=)
|
rs144590106
|
0.00006
|
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=)
|
rs141773967
|
0.00006
|
NM_000126.4(ETFA):c.269-15G>A
|
rs371793833
|
0.00006
|
NM_000126.4(ETFA):c.442A>G (p.Ile148Val)
|
rs199673198
|
0.00006
|
NM_000126.4(ETFA):c.817-12C>T
|
rs752918296
|
0.00006
|
NM_000137.4(FAH):c.302A>G (p.Glu101Gly)
|
rs758347578
|
0.00006
|
NM_000159.4(GCDH):c.506-8G>T
|
rs376016112
|
0.00006
|
NM_000159.4(GCDH):c.885C>T (p.Tyr295=)
|
rs139192015
|
0.00006
|
NM_000161.3(GCH1):c.582G>A (p.Thr194=)
|
rs199836777
|
0.00006
|
NM_000170.3(GLDC):c.1770A>G (p.Gly590=)
|
rs368034833
|
0.00006
|
NM_000170.3(GLDC):c.1824T>C (p.Tyr608=)
|
rs542429544
|
0.00006
|
NM_000170.3(GLDC):c.2028C>T (p.Ile676=)
|
rs372604935
|
0.00006
|
NM_000170.3(GLDC):c.258C>T (p.Ser86=)
|
rs562000292
|
0.00006
|
NM_000170.3(GLDC):c.2601G>A (p.Thr867=)
|
rs371678175
|
0.00006
|
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)
|
rs139931025
|
0.00006
|
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
|
rs915226152
|
0.00006
|
NM_000170.3(GLDC):c.934A>G (p.Ile312Val)
|
rs1351445046
|
0.00006
|
NM_000182.5(HADHA):c.1425C>T (p.Asn475=)
|
rs774394602
|
0.00006
|
NM_000182.5(HADHA):c.2010C>T (p.Asp670=)
|
rs377688807
|
0.00006
|
NM_000182.5(HADHA):c.816C>A (p.Ala272=)
|
rs764851270
|
0.00006
|
NM_000187.4(HGD):c.501C>T (p.Thr167=)
|
rs146878140
|
0.00006
|
NM_000187.4(HGD):c.550-14G>C
|
rs769000073
|
0.00006
|
NM_000187.4(HGD):c.786G>A (p.Pro262=)
|
rs747648606
|
0.00006
|
NM_000191.3(HMGCL):c.882G>A (p.Val294=)
|
rs1370242689
|
0.00006
|
NM_000240.4(MAOA):c.1119C>A (p.Ile373=)
|
rs200913136
|
0.00006
|
NM_000240.4(MAOA):c.1389C>T (p.Leu463=)
|
rs771568228
|
0.00006
|
NM_000240.4(MAOA):c.412-13C>T
|
rs763906089
|
0.00006
|
NM_000254.3(MTR):c.502+13C>T
|
rs201647375
|
0.00006
|
NM_000254.3(MTR):c.996-20T>C
|
rs772967310
|
0.00006
|
NM_000277.3(PAH):c.222A>G (p.Lys74=)
|
rs374797155
|
0.00006
|
NM_000277.3(PAH):c.352+11G>C
|
rs371926082
|
0.00006
|
NM_000277.3(PAH):c.438C>T (p.His146=)
|
rs191142120
|
0.00006
|
NM_000277.3(PAH):c.804C>T (p.Tyr268=)
|
rs748337823
|
0.00006
|
NM_000282.4(PCCA):c.1350A>G (p.Ser450=)
|
rs755614638
|
0.00006
|
NM_000282.4(PCCA):c.1515C>T (p.Ser505=)
|
rs201162791
|
0.00006
|
NM_000282.4(PCCA):c.1713C>T (p.Thr571=)
|
rs778536273
|
0.00006
|
NM_000282.4(PCCA):c.1900-15T>G
|
rs769815745
|
0.00006
|
NM_000282.4(PCCA):c.483C>T (p.Val161=)
|
rs370402818
|
0.00006
|
NM_000282.4(PCCA):c.716+19T>C
|
rs201320992
|
0.00006
|
NM_000317.3(PTS):c.399C>T (p.Tyr133=)
|
rs199603175
|
0.00006
|
NM_000320.3(QDPR):c.519C>T (p.Pro173=)
|
rs368614041
|
0.00006
|
NM_000320.3(QDPR):c.621C>T (p.Phe207=)
|
rs200518175
|
0.00006
|
NM_000329.3(RPE65):c.1244-20G>A
|
rs772290877
|
0.00006
|
NM_000329.3(RPE65):c.245+14C>T
|
rs368381348
|
0.00006
|
NM_000329.3(RPE65):c.859-10A>G
|
rs752810906
|
0.00006
|
NM_000353.3(TAT):c.231C>A (p.Ser77=)
|
rs562235592
|
0.00006
|
NM_000353.3(TAT):c.235+11G>C
|
rs376600004
|
0.00006
|
NM_000353.3(TAT):c.93G>A (p.Pro31=)
|
rs757389308
|
0.00006
|
NM_000360.4(TH):c.1228C>A (p.Arg410=)
|
rs575326605
|
0.00006
|
NM_000360.4(TH):c.1236C>T (p.Phe412=)
|
rs367624648
|
0.00006
|
NM_000360.4(TH):c.263C>T (p.Pro88Leu)
|
rs150260759
|
0.00006
|
NM_000360.4(TH):c.362C>T (p.Pro121Leu)
|
rs760017478
|
0.00006
|
NM_000360.4(TH):c.487+8G>A
|
rs749511812
|
0.00006
|
NM_000360.4(TH):c.644+19C>T
|
rs769248793
|
0.00006
|
NM_000360.4(TH):c.91-897C>T
|
rs762373165
|
0.00006
|
NM_000481.4(AMT):c.555C>T (p.Pro185=)
|
rs144790394
|
0.00006
|
NM_000481.4(AMT):c.91-9C>T
|
rs761235679
|
0.00006
|
NM_000531.6(OTC):c.299-18C>T
|
rs5917586
|
0.00006
|
NM_000532.5(PCCB):c.1198+11G>C
|
rs952515018
|
0.00006
|
NM_000532.5(PCCB):c.66C>G (p.Arg22=)
|
rs759836996
|
0.00006
|
NM_000532.5(PCCB):c.966+17T>C
|
rs752703797
|
0.00006
|
NM_000554.6(CRX):c.311A>G (p.Gln104Arg)
|
rs769592519
|
0.00006
|
NM_000687.4(AHCY):c.29-5C>T
|
rs375669228
|
0.00006
|
NM_000709.4(BCKDHA):c.1032G>A (p.Ala344=)
|
rs376446100
|
0.00006
|
NM_000709.4(BCKDHA):c.606C>T (p.Phe202=)
|
rs370068964
|
0.00006
|
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)
|
rs398123514
|
0.00006
|
NM_001010867.4(IBA57):c.162C>T (p.Asp54=)
|
rs762720562
|
0.00006
|
NM_001010867.4(IBA57):c.342-14C>T
|
rs368178420
|
0.00006
|
NM_001010867.4(IBA57):c.947A>C (p.Asn316Thr)
|
rs200319163
|
0.00006
|
NM_001024845.3(SLC6A9):c.31-6201G>A
|
rs112726936
|
0.00006
|
NM_001080.3(ALDH5A1):c.1134T>C (p.Thr378=)
|
rs1258501471
|
0.00006
|
NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly)
|
rs139719918
|
0.00006
|
NM_001080.3(ALDH5A1):c.1353A>C (p.Thr451=)
|
rs146549665
|
0.00006
|
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=)
|
rs372455508
|
0.00006
|
NM_001127222.2(CACNA1A):c.1353C>G (p.Pro451=)
|
rs569115027
|
0.00006
|
NM_001127222.2(CACNA1A):c.1593C>T (p.Ser531=)
|
rs372090886
|
0.00006
|
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr)
|
rs201666606
|
0.00006
|
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=)
|
rs780515850
|
0.00006
|
NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg)
|
rs771423362
|
0.00006
|
NM_001127222.2(CACNA1A):c.2853G>A (p.Ala951=)
|
rs761522418
|
0.00006
|
NM_001127222.2(CACNA1A):c.2940C>G (p.Arg980=)
|
rs1188340576
|
0.00006
|
NM_001127222.2(CACNA1A):c.297C>T (p.Pro99=)
|
rs370211834
|
0.00006
|
NM_001127222.2(CACNA1A):c.3053G>C (p.Arg1018Pro)
|
rs762288499
|
0.00006
|
NM_001127222.2(CACNA1A):c.3489C>T (p.Pro1163=)
|
rs771567638
|
0.00006
|
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val)
|
rs372017604
|
0.00006
|
NM_001127222.2(CACNA1A):c.4388+12G>A
|
rs924927963
|
0.00006
|
NM_001127222.2(CACNA1A):c.4710G>A (p.Thr1570=)
|
rs761547761
|
0.00006
|
NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=)
|
rs368347143
|
0.00006
|
NM_001127222.2(CACNA1A):c.549G>T (p.Ala183=)
|
rs16004
|
0.00006
|
NM_001127222.2(CACNA1A):c.5529-1245T>C
|
rs368791169
|
0.00006
|
NM_001127222.2(CACNA1A):c.5731+14A>G
|
rs762304728
|
0.00006
|
NM_001127222.2(CACNA1A):c.5731+14_5731+15del
|
rs775317628
|
0.00006
|
NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn)
|
rs371957992
|
0.00006
|
NM_001127222.2(CACNA1A):c.5940+12G>A
|
rs780841537
|
0.00006
|
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)
|
rs751947412
|
0.00006
|
NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser)
|
rs574805525
|
0.00006
|
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)
|
rs771768635
|
0.00006
|
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln)
|
rs769040794
|
0.00006
|
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln)
|
rs1033214914
|
0.00006
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
NM_001127222.2(CACNA1A):c.831C>T (p.Pro277=)
|
rs568635317
|
0.00006
|
NM_001127222.2(CACNA1A):c.903C>T (p.Phe301=)
|
rs17846910
|
0.00006
|
NM_001243279.3(ACSF3):c.156C>T (p.Ala52=)
|
rs746564011
|
0.00006
|
NM_001243279.3(ACSF3):c.258C>T (p.Cys86=)
|
rs560101290
|
0.00006
|
NM_001243279.3(ACSF3):c.720C>T (p.His240=)
|
rs778493922
|
0.00006
|
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=)
|
rs200950385
|
0.00006
|
NM_001258392.3(CLPB):c.1146C>T (p.Ser382=)
|
rs377372785
|
0.00006
|
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=)
|
rs147296630
|
0.00006
|
NM_001271.4(CHD2):c.1052+11C>T
|
rs558895083
|
0.00006
|
NM_001271.4(CHD2):c.1233C>T (p.Pro411=)
|
rs202188833
|
0.00006
|
NM_001271.4(CHD2):c.1377+13T>C
|
rs375615448
|
0.00006
|
NM_001271.4(CHD2):c.180T>G (p.Ser60=)
|
rs747415863
|
0.00006
|
NM_001271.4(CHD2):c.2724G>A (p.Lys908=)
|
rs775276311
|
0.00006
|
NM_001271.4(CHD2):c.3237+14A>G
|
rs763922777
|
0.00006
|
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp)
|
rs755898320
|
0.00006
|
NM_001271.4(CHD2):c.4542C>T (p.Ala1514=)
|
rs147115056
|
0.00006
|
NM_001271.4(CHD2):c.4907-15T>A
|
rs372145426
|
0.00006
|
NM_001271.4(CHD2):c.4968A>G (p.Pro1656=)
|
rs909107415
|
0.00006
|
NM_001271.4(CHD2):c.4978G>A (p.Asp1660Asn)
|
rs61752830
|
0.00006
|
NM_001271.4(CHD2):c.4986C>T (p.His1662=)
|
rs139082993
|
0.00006
|
NM_001271.4(CHD2):c.826+14G>A
|
rs189583903
|
0.00006
|
NM_001278293.3(ARL6):c.453C>T (p.Asn151=)
|
rs947207333
|
0.00006
|
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=)
|
rs73196003
|
0.00006
|
NM_001352514.2(HLCS):c.1686C>G (p.Ser562=)
|
rs141905941
|
0.00006
|
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=)
|
rs150263699
|
0.00006
|
NM_001352514.2(HLCS):c.2450+7G>C
|
rs373944714
|
0.00006
|
NM_001352514.2(HLCS):c.689G>A (p.Ser230Asn)
|
rs761147008
|
0.00006
|
NM_001370658.1(BTD):c.1528C>G (p.Leu510Val)
|
rs201852672
|
0.00006
|
NM_001370658.1(BTD):c.522C>T (p.Phe174=)
|
rs750363004
|
0.00006
|
NM_001609.4(ACADSB):c.757T>C (p.Leu253=)
|
rs776888756
|
0.00006
|
NM_001698.3(AUH):c.656-8C>T
|
rs199879150
|
0.00006
|
NM_001698.3(AUH):c.720G>A (p.Ala240=)
|
rs780040124
|
0.00006
|
NM_001698.3(AUH):c.843+13A>G
|
rs747375365
|
0.00006
|
NM_001739.2(CA5A):c.267G>A (p.Ala89=)
|
rs377436710
|
0.00006
|
NM_001739.2(CA5A):c.450C>T (p.Tyr150=)
|
rs368084033
|
0.00006
|
NM_001739.2(CA5A):c.720C>A (p.Thr240=)
|
rs547918689
|
0.00006
|
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)
|
rs199878637
|
0.00006
|
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)
|
rs142369181
|
0.00006
|
NM_001875.5(CPS1):c.2392-9G>A
|
rs374695266
|
0.00006
|
NM_001875.5(CPS1):c.2544C>T (p.Ser848=)
|
rs142818109
|
0.00006
|
NM_001875.5(CPS1):c.2745G>A (p.Lys915=)
|
rs143659334
|
0.00006
|
NM_001875.5(CPS1):c.3219C>G (p.Val1073=)
|
rs374964409
|
0.00006
|
NM_001875.5(CPS1):c.3234A>G (p.Thr1078=)
|
rs148570490
|
0.00006
|
NM_001875.5(CPS1):c.3408G>A (p.Gly1136=)
|
rs147776702
|
0.00006
|
NM_001875.5(CPS1):c.4173G>A (p.Thr1391=)
|
rs201710257
|
0.00006
|
NM_001875.5(CPS1):c.4488T>C (p.Ala1496=)
|
rs141982972
|
0.00006
|
NM_001875.5(CPS1):c.636C>T (p.Tyr212=)
|
rs138724401
|
0.00006
|
NM_001876.4(CPT1A):c.1083G>A (p.Gln361=)
|
rs761229343
|
0.00006
|
NM_001876.4(CPT1A):c.1539G>A (p.Pro513=)
|
rs371923903
|
0.00006
|
NM_001876.4(CPT1A):c.1845C>T (p.Phe615=)
|
rs144747588
|
0.00006
|
NM_001876.4(CPT1A):c.1850G>A (p.Arg617Gln)
|
rs375224809
|
0.00006
|
NM_001876.4(CPT1A):c.2178T>C (p.Leu726=)
|
rs200501379
|
0.00006
|
NM_001876.4(CPT1A):c.2244T>C (p.His748=)
|
rs746766870
|
0.00006
|
NM_001876.4(CPT1A):c.598A>G (p.Lys200Glu)
|
rs201425412
|
0.00006
|
NM_001918.5(DBT):c.733C>A (p.Pro245Thr)
|
rs200339376
|
0.00006
|
NM_001918.5(DBT):c.90T>C (p.His30=)
|
rs377306925
|
0.00006
|
NM_001918.5(DBT):c.9A>G (p.Ala3=)
|
rs772869478
|
0.00006
|
NM_001958.5(EEF1A2):c.1029+13G>A
|
rs374272155
|
0.00006
|
NM_001958.5(EEF1A2):c.1265-13C>A
|
rs1163487010
|
0.00006
|
NM_001958.5(EEF1A2):c.145-16C>T
|
rs369022379
|
0.00006
|
NM_001958.5(EEF1A2):c.145-8C>T
|
rs554786640
|
0.00006
|
NM_001958.5(EEF1A2):c.219C>T (p.Ile73=)
|
rs371263699
|
0.00006
|
NM_001958.5(EEF1A2):c.345C>T (p.Ile115=)
|
rs138846735
|
0.00006
|
NM_001958.5(EEF1A2):c.999G>A (p.Pro333=)
|
rs760721599
|
0.00006
|
NM_001985.3(ETFB):c.708C>T (p.Gly236=)
|
rs749837573
|
0.00006
|
NM_001985.3(ETFB):c.81C>T (p.Thr27=)
|
rs374819445
|
0.00006
|
NM_002150.3(HPD):c.760-7C>T
|
rs748133768
|
0.00006
|
NM_002225.5(IVD):c.234+13G>A
|
rs762088213
|
0.00006
|
NM_002225.5(IVD):c.286+8T>C
|
rs769702849
|
0.00006
|
NM_002225.5(IVD):c.784+13G>A
|
rs369694967
|
0.00006
|
NM_002454.3(MTRR):c.1370+18C>T
|
rs374485961
|
0.00006
|
NM_002860.4(ALDH18A1):c.1467+16G>A
|
rs371225175
|
0.00006
|
NM_002860.4(ALDH18A1):c.1568C>T (p.Ala523Val)
|
rs529294368
|
0.00006
|
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=)
|
rs200730342
|
0.00006
|
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly)
|
rs143874727
|
0.00006
|
NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln)
|
rs771439149
|
0.00006
|
NM_003042.4(SLC6A1):c.371-9C>T
|
rs368461369
|
0.00006
|
NM_003042.4(SLC6A1):c.891G>A (p.Gly297=)
|
rs151039956
|
0.00006
|
NM_003060.4(SLC22A5):c.570G>A (p.Ser190=)
|
rs561032476
|
0.00006
|
NM_003982.4(SLC7A7):c.1425C>T (p.Ile475=)
|
rs373156106
|
0.00006
|
NM_004408.4(DNM1):c.1350G>T (p.Pro450=)
|
rs147897973
|
0.00006
|
NM_004408.4(DNM1):c.725T>C (p.Ile242Thr)
|
rs138357499
|
0.00006
|
NM_004408.4(DNM1):c.849+7G>A
|
rs779667787
|
0.00006
|
NM_004408.4(DNM1):c.992+13C>A
|
rs762733307
|
0.00006
|
NM_004453.4(ETFDH):c.1690+20C>T
|
rs376588328
|
0.00006
|
NM_004453.4(ETFDH):c.846T>C (p.Asp282=)
|
rs371927583
|
0.00006
|
NM_004453.4(ETFDH):c.882T>C (p.Thr294=)
|
rs770579929
|
0.00006
|
NM_004937.3(CTNS):c.29T>C (p.Ile10Thr)
|
rs754092691
|
0.00006
|
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser)
|
rs200313254
|
0.00006
|
NM_004937.3(CTNS):c.487G>A (p.Val163Met)
|
rs200818208
|
0.00006
|
NM_004937.3(CTNS):c.648G>A (p.Thr216=)
|
rs772591288
|
0.00006
|
NM_004974.4(KCNA2):c.1146G>A (p.Pro382=)
|
rs370714935
|
0.00006
|
NM_004974.4(KCNA2):c.292T>C (p.Leu98=)
|
rs369845519
|
0.00006
|
NM_004974.4(KCNA2):c.35C>T (p.Ala12Val)
|
rs372822052
|
0.00006
|
NM_004975.4(KCNB1):c.1905T>C (p.Gly635=)
|
rs117166054
|
0.00006
|
NM_005050.4(ABCD4):c.1518G>A (p.Val506=)
|
rs372838114
|
0.00006
|
NM_005050.4(ABCD4):c.1716G>A (p.Thr572=)
|
rs776137988
|
0.00006
|
NM_005334.3(HCFC1):c.1084+8C>T
|
rs367698803
|
0.00006
|
NM_005334.3(HCFC1):c.1803+7G>A
|
rs782241441
|
0.00006
|
NM_005518.4(HMGCS2):c.1420+13T>C
|
rs771878586
|
0.00006
|
NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr)
|
rs781962672
|
0.00006
|
NM_005629.4(SLC6A8):c.1038C>T (p.Leu346=)
|
rs369716393
|
0.00006
|
NM_005629.4(SLC6A8):c.1170G>A (p.Pro390=)
|
rs782416756
|
0.00006
|
NM_005629.4(SLC6A8):c.126A>G (p.Thr42=)
|
rs1557043825
|
0.00006
|
NM_005629.4(SLC6A8):c.1504C>T (p.Arg502Cys)
|
rs782488606
|
0.00006
|
NM_005629.4(SLC6A8):c.26G>T (p.Gly9Val)
|
rs1198790754
|
0.00006
|
NM_005957.5(MTHFR):c.1146C>T (p.Asp382=)
|
rs761540678
|
0.00006
|
NM_006623.4(PHGDH):c.1467C>T (p.Gly489=)
|
rs754658401
|
0.00006
|
NM_006623.4(PHGDH):c.1515C>G (p.Thr505=)
|
rs201529203
|
0.00006
|
NM_006623.4(PHGDH):c.375G>A (p.Thr125=)
|
rs754365384
|
0.00006
|
NM_006623.4(PHGDH):c.510+14G>A
|
rs763333293
|
0.00006
|
NM_006859.4(LIAS):c.999A>G (p.Lys333=)
|
rs372877643
|
0.00006
|
NM_012213.3(MLYCD):c.939G>A (p.Lys313=)
|
rs1014990867
|
0.00006
|
NM_012213.3(MLYCD):c.948+11C>T
|
rs568952897
|
0.00006
|
NM_014251.3(SLC25A13):c.1751-24T>C
|
rs375555060
|
0.00006
|
NM_014251.3(SLC25A13):c.1751-4_1751-3insT
|
rs765170811
|
0.00006
|
NM_014251.3(SLC25A13):c.534C>T (p.Val178=)
|
rs776288888
|
0.00006
|
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile)
|
rs531991442
|
0.00006
|
NM_014252.4(SLC25A15):c.324G>A (p.Gln108=)
|
rs756644906
|
0.00006
|
NM_014362.4(HIBCH):c.312G>A (p.Ser104=)
|
rs201502204
|
0.00006
|
NM_014362.4(HIBCH):c.35+10A>C
|
rs747167987
|
0.00006
|
NM_014384.3(ACAD8):c.557A>G (p.Asn186Ser)
|
rs200170162
|
0.00006
|
NM_014384.3(ACAD8):c.846C>G (p.Ser282=)
|
rs200330956
|
0.00006
|
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=)
|
rs528744719
|
0.00006
|
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)
|
rs200276195
|
0.00006
|
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala)
|
rs569132013
|
0.00006
|
NM_015509.4(NECAP1):c.489C>T (p.Ile163=)
|
rs773465096
|
0.00006
|
NM_015662.3(IFT172):c.1006-10C>T
|
rs545781319
|
0.00006
|
NM_015662.3(IFT172):c.1932G>A (p.Ala644=)
|
rs374357498
|
0.00006
|
NM_015662.3(IFT172):c.3530+12C>G
|
rs755760582
|
0.00006
|
NM_015662.3(IFT172):c.3921C>T (p.Asn1307=)
|
rs377211687
|
0.00006
|
NM_015662.3(IFT172):c.877G>A (p.Ala293Thr)
|
rs370903625
|
0.00006
|
NM_015702.3(MMADHC):c.510T>C (p.Asn170=)
|
rs745423033
|
0.00006
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
NM_016335.6(PRODH):c.456C>T (p.Pro152=)
|
rs747609336
|
0.00006
|
NM_016579.4(CD320):c.143-4G>A
|
rs371174438
|
0.00006
|
NM_016579.4(CD320):c.588C>G (p.Ala196=)
|
rs776070970
|
0.00006
|
NM_018368.4(LMBRD1):c.1410T>G (p.Ala470=)
|
rs761693513
|
0.00006
|
NM_018368.4(LMBRD1):c.637-13G>A
|
rs776621535
|
0.00006
|
NM_018706.7(DHTKD1):c.1078G>A (p.Val360Met)
|
rs755976465
|
0.00006
|
NM_018706.7(DHTKD1):c.2454A>G (p.Lys818=)
|
rs544154603
|
0.00006
|
NM_018706.7(DHTKD1):c.717+12C>T
|
rs548903016
|
0.00006
|
NM_020166.5(MCCC1):c.1083+10T>A
|
rs374971501
|
0.00006
|
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=)
|
rs768167603
|
0.00006
|
NM_020166.5(MCCC1):c.1623T>C (p.Ser541=)
|
rs750602906
|
0.00006
|
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)
|
rs200651846
|
0.00006
|
NM_020166.5(MCCC1):c.384A>C (p.Gly128=)
|
rs139091481
|
0.00006
|
NM_020686.6(ABAT):c.541-9T>C
|
rs774934344
|
0.00006
|
NM_020686.6(ABAT):c.816+19G>A
|
rs147226856
|
0.00006
|
NM_022132.5(MCCC2):c.1056A>C (p.Gly352=)
|
rs373146322
|
0.00006
|
NM_022132.5(MCCC2):c.1341C>T (p.Ala447=)
|
rs548725229
|
0.00006
|
NM_022132.5(MCCC2):c.1509G>A (p.Ala503=)
|
rs779855532
|
0.00006
|
NM_022132.5(MCCC2):c.417C>T (p.Thr139=)
|
rs367635502
|
0.00006
|
NM_032601.4(MCEE):c.375C>T (p.Ile125=)
|
rs748574475
|
0.00006
|
NM_052845.4(MMAB):c.150G>A (p.Ser50=)
|
rs754357121
|
0.00006
|
NM_054012.4(ASS1):c.1047G>T (p.Val349=)
|
rs376502913
|
0.00006
|
NM_054012.4(ASS1):c.1211G>A (p.Arg404His)
|
rs752612525
|
0.00006
|
NM_152419.3(HGSNAT):c.1542+18C>T
|
rs1013624277
|
0.00006
|
NM_152419.3(HGSNAT):c.633+20G>C
|
rs144188129
|
0.00006
|
NM_152419.3(HGSNAT):c.666C>T (p.Leu222=)
|
rs754275273
|
0.00006
|
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr)
|
rs777459994
|
0.00006
|
NM_177550.5(SLC13A5):c.1055+16A>C
|
rs756534283
|
0.00006
|
NM_177550.5(SLC13A5):c.1068T>C (p.Asp356=)
|
rs369080598
|
0.00006
|
NM_177550.5(SLC13A5):c.547+8C>T
|
rs1270343571
|
0.00006
|
NM_177550.5(SLC13A5):c.548-17C>T
|
rs761273591
|
0.00006
|
NM_177550.5(SLC13A5):c.663C>T (p.Thr221=)
|
rs373831482
|
0.00006
|
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=)
|
rs754553205
|
0.00006
|
NM_201253.3(CRB1):c.1014C>T (p.Ile338=)
|
rs771549675
|
0.00006
|
NM_201253.3(CRB1):c.1172-15T>A
|
rs375141011
|
0.00006
|
NM_201253.3(CRB1):c.1172-20C>T
|
rs768396277
|
0.00006
|
NM_201253.3(CRB1):c.1182C>T (p.Cys394=)
|
rs115352681
|
0.00006
|
NM_201253.3(CRB1):c.156T>C (p.Asn52=)
|
rs143046320
|
0.00006
|
NM_201253.3(CRB1):c.1746A>G (p.Leu582=)
|
rs550119977
|
0.00006
|
NM_201253.3(CRB1):c.2796G>A (p.Pro932=)
|
rs139127915
|
0.00006
|
NM_201253.3(CRB1):c.2826G>T (p.Val942=)
|
rs781176401
|
0.00006
|
NM_205861.3(DHDDS):c.312G>A (p.Leu104=)
|
rs146693904
|
0.00006
|
NM_205861.3(DHDDS):c.480T>C (p.His160=)
|
rs758260694
|
0.00006
|
NM_205861.3(DHDDS):c.504G>A (p.Glu168=)
|
rs1251271750
|
0.00006
|
NM_000018.4(ACADVL):c.1077+16G>A
|
rs780420241
|
0.00005
|
NM_000018.4(ACADVL):c.1078-13G>C
|
rs368366316
|
0.00005
|
NM_000018.4(ACADVL):c.1719C>T (p.Ile573=)
|
rs372452333
|
0.00005
|
NM_000018.4(ACADVL):c.623-18T>C
|
rs777866869
|
0.00005
|
NM_000018.4(ACADVL):c.752+7T>C
|
rs753057653
|
0.00005
|
NM_000018.4(ACADVL):c.954A>G (p.Pro318=)
|
rs137919558
|
0.00005
|
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)
|
rs200729208
|
0.00005
|
NM_000019.4(ACAT1):c.607A>C (p.Lys203Gln)
|
rs200498630
|
0.00005
|
NM_000026.4(ADSL):c.1102-18C>G
|
rs764157832
|
0.00005
|
NM_000026.4(ADSL):c.1192-5C>T
|
rs563441974
|
0.00005
|
NM_000045.4(ARG1):c.309G>A (p.Leu103=)
|
rs749043086
|
0.00005
|
NM_000048.4(ASL):c.393G>A (p.Thr131=)
|
rs147273133
|
0.00005
|
NM_000048.4(ASL):c.447-20C>T
|
rs370515460
|
0.00005
|
NM_000048.4(ASL):c.609C>A (p.Ala203=)
|
rs139105263
|
0.00005
|
NM_000048.4(ASL):c.75C>T (p.Asn25=)
|
rs370260834
|
0.00005
|
NM_000048.4(ASL):c.90C>T (p.Tyr30=)
|
rs751062108
|
0.00005
|
NM_000048.4(ASL):c.933G>A (p.Leu311=)
|
rs550097103
|
0.00005
|
NM_000071.3(CBS):c.1074G>A (p.Val358=)
|
rs570135008
|
0.00005
|
NM_000071.3(CBS):c.1494G>A (p.Arg498=)
|
rs778800147
|
0.00005
|
NM_000071.3(CBS):c.663C>T (p.Asp221=)
|
rs753964840
|
0.00005
|
NM_000071.3(CBS):c.774C>T (p.Gly258=)
|
rs764925747
|
0.00005
|
NM_000108.5(DLD):c.807G>T (p.Gly269=)
|
rs912822748
|
0.00005
|
NM_000116.5(TAFAZZIN):c.110-6C>T
|
rs782099193
|
0.00005
|
NM_000137.4(FAH):c.1026G>A (p.Pro342=)
|
rs748360797
|
0.00005
|
NM_000156.6(GAMT):c.331A>C (p.Ile111Leu)
|
rs201833033
|
0.00005
|
NM_000156.6(GAMT):c.651G>A (p.Pro217=)
|
rs745327521
|
0.00005
|
NM_000159.4(GCDH):c.1092C>T (p.Pro364=)
|
rs146363703
|
0.00005
|
NM_000159.4(GCDH):c.335-14C>T
|
rs781650833
|
0.00005
|
NM_000161.3(GCH1):c.543T>G (p.Val181=)
|
rs765670568
|
0.00005
|
NM_000170.3(GLDC):c.1143C>A (p.Ile381=)
|
rs755376052
|
0.00005
|
NM_000170.3(GLDC):c.1149A>G (p.Thr383=)
|
rs146499591
|
0.00005
|
NM_000170.3(GLDC):c.135C>T (p.Ala45=)
|
rs747904179
|
0.00005
|
NM_000170.3(GLDC):c.1650C>T (p.His550=)
|
rs566134371
|
0.00005
|
NM_000170.3(GLDC):c.1767A>G (p.Gln589=)
|
rs372596473
|
0.00005
|
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
|
rs141875337
|
0.00005
|
NM_000170.3(GLDC):c.2073C>T (p.Asn691=)
|
rs140352381
|
0.00005
|
NM_000170.3(GLDC):c.2181C>T (p.Asp727=)
|
rs192045547
|
0.00005
|
NM_000170.3(GLDC):c.2202+20G>A
|
rs770620676
|
0.00005
|
NM_000170.3(GLDC):c.2666-8C>A
|
rs771178748
|
0.00005
|
NM_000170.3(GLDC):c.2839-15G>A
|
rs374118017
|
0.00005
|
NM_000170.3(GLDC):c.576C>G (p.Ala192=)
|
rs768514155
|
0.00005
|
NM_000170.3(GLDC):c.862-13A>G
|
rs541830167
|
0.00005
|
NM_000182.5(HADHA):c.1752C>T (p.Ala584=)
|
rs761749332
|
0.00005
|
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys)
|
rs777153382
|
0.00005
|
NM_000182.5(HADHA):c.2106C>T (p.Ile702=)
|
rs267599302
|
0.00005
|
NM_000182.5(HADHA):c.764A>G (p.Lys255Arg)
|
rs754673524
|
0.00005
|
NM_000187.4(HGD):c.396T>A (p.Ala132=)
|
rs768585616
|
0.00005
|
NM_000191.3(HMGCL):c.561+8C>G
|
rs372648949
|
0.00005
|
NM_000191.3(HMGCL):c.720A>G (p.Gln240=)
|
rs911190800
|
0.00005
|
NM_000240.4(MAOA):c.1262+19G>A
|
rs377168294
|
0.00005
|
NM_000254.3(MTR):c.2235C>T (p.Gly745=)
|
rs1453742538
|
0.00005
|
NM_000254.3(MTR):c.2994C>T (p.Asn998=)
|
rs778549407
|
0.00005
|
NM_000254.3(MTR):c.3384G>A (p.Ala1128=)
|
rs767454577
|
0.00005
|
NM_000254.3(MTR):c.759A>C (p.Pro253=)
|
rs752365220
|
0.00005
|
NM_000274.4(OAT):c.582C>T (p.Tyr194=)
|
rs754489812
|
0.00005
|
NM_000276.4(OCRL):c.1466+16C>T
|
rs750356239
|
0.00005
|
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)
|
rs376280495
|
0.00005
|
NM_000276.4(OCRL):c.2695G>A (p.Glu899Lys)
|
rs749551841
|
0.00005
|
NM_000276.4(OCRL):c.39+8C>T
|
rs1051771435
|
0.00005
|
NM_000276.4(OCRL):c.50G>C (p.Gly17Ala)
|
rs768913997
|
0.00005
|
NM_000282.4(PCCA):c.945G>A (p.Ala315=)
|
rs373115130
|
0.00005
|
NM_000317.3(PTS):c.318G>A (p.Thr106=)
|
rs568878711
|
0.00005
|
NM_000341.4(SLC3A1):c.1137-3T>C
|
rs555017366
|
0.00005
|
NM_000353.3(TAT):c.408+10A>T
|
rs766194831
|
0.00005
|
NM_000360.4(TH):c.1105-13G>A
|
rs535333944
|
0.00005
|
NM_000360.4(TH):c.192C>T (p.Pro64=)
|
rs767080132
|
0.00005
|
NM_000360.4(TH):c.297T>C (p.Ala99=)
|
rs1002356459
|
0.00005
|
NM_000360.4(TH):c.549C>T (p.Phe183=)
|
rs756278325
|
0.00005
|
NM_000360.4(TH):c.678C>T (p.Ala226=)
|
rs139619260
|
0.00005
|
NM_000360.4(TH):c.90+23G>A
|
rs551036568
|
0.00005
|
NM_000360.4(TH):c.91-867G>A
|
rs1799833
|
0.00005
|
NM_000481.4(AMT):c.231G>A (p.Ser77=)
|
rs779002947
|
0.00005
|
NM_000481.4(AMT):c.91-8G>A
|
rs375632843
|
0.00005
|
NM_000531.6(OTC):c.372C>T (p.Leu124=)
|
rs201070935
|
0.00005
|
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile)
|
rs145135400
|
0.00005
|
NM_000532.5(PCCB):c.544-10G>A
|
rs759150582
|
0.00005
|
NM_000532.5(PCCB):c.642G>A (p.Thr214=)
|
rs148056730
|
0.00005
|
NM_000554.6(CRX):c.101-6C>T
|
rs781316943
|
0.00005
|
NM_000554.6(CRX):c.369G>A (p.Thr123=)
|
rs368752695
|
0.00005
|
NM_000554.6(CRX):c.552G>A (p.Pro184=)
|
rs779118593
|
0.00005
|
NM_000554.6(CRX):c.606C>T (p.Cys202=)
|
rs764877352
|
0.00005
|
NM_000554.6(CRX):c.774T>C (p.Tyr258=)
|
rs767273026
|
0.00005
|
NM_000709.4(BCKDHA):c.1020C>T (p.Asp340=)
|
rs548045051
|
0.00005
|
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=)
|
rs576803251
|
0.00005
|
NM_001010867.4(IBA57):c.894G>A (p.Thr298=)
|
rs142711871
|
0.00005
|
NM_001024845.3(SLC6A9):c.120C>T (p.Ser40=)
|
rs571004944
|
0.00005
|
NM_001024845.3(SLC6A9):c.489C>G (p.Ser163=)
|
rs763497489
|
0.00005
|
NM_001024845.3(SLC6A9):c.753C>T (p.Tyr251=)
|
rs201597633
|
0.00005
|
NM_001024845.3(SLC6A9):c.859-16C>T
|
rs371880142
|
0.00005
|
NM_001080.3(ALDH5A1):c.188G>T (p.Ser63Ile)
|
rs374908367
|
0.00005
|
NM_001080.3(ALDH5A1):c.354+13G>C
|
rs779886253
|
0.00005
|
NM_001127222.2(CACNA1A):c.105C>T (p.Gly35=)
|
rs745876675
|
0.00005
|
NM_001127222.2(CACNA1A):c.1199-9C>T
|
rs529977616
|
0.00005
|
NM_001127222.2(CACNA1A):c.1305C>T (p.Pro435=)
|
rs376451601
|
0.00005
|
NM_001127222.2(CACNA1A):c.2328G>A (p.Gln776=)
|
rs754796882
|
0.00005
|
NM_001127222.2(CACNA1A):c.2547C>T (p.Leu849=)
|
rs768719398
|
0.00005
|
NM_001127222.2(CACNA1A):c.2626G>A (p.Gly876Ser)
|
rs763054302
|
0.00005
|
NM_001127222.2(CACNA1A):c.3123C>A (p.Gly1041=)
|
rs377466062
|
0.00005
|
NM_001127222.2(CACNA1A):c.4125C>T (p.Asn1375=)
|
rs767026062
|
0.00005
|
NM_001127222.2(CACNA1A):c.4896C>T (p.Phe1632=)
|
rs374613316
|
0.00005
|
NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=)
|
rs373678557
|
0.00005
|
NM_001127222.2(CACNA1A):c.561G>A (p.Thr187=)
|
rs777316026
|
0.00005
|
NM_001127222.2(CACNA1A):c.5931C>T (p.Arg1977=)
|
rs377136737
|
0.00005
|
NM_001127222.2(CACNA1A):c.631+15G>A
|
rs372178435
|
0.00005
|
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)
|
rs202216404
|
0.00005
|
NM_001127222.2(CACNA1A):c.6473G>A (p.Arg2158His)
|
rs375859889
|
0.00005
|
NM_001127222.2(CACNA1A):c.6663G>A (p.Pro2221=)
|
rs1447103387
|
0.00005
|
NM_001127222.2(CACNA1A):c.6695G>A (p.Arg2232Gln)
|
rs777894367
|
0.00005
|
NM_001127222.2(CACNA1A):c.6751G>A (p.Glu2251Lys)
|
rs758625682
|
0.00005
|
NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val)
|
rs755099305
|
0.00005
|
NM_001127222.2(CACNA1A):c.807G>A (p.Pro269=)
|
rs772730357
|
0.00005
|
NM_001243279.3(ACSF3):c.1233G>A (p.Gly411=)
|
rs777928520
|
0.00005
|
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=)
|
rs368192538
|
0.00005
|
NM_001243279.3(ACSF3):c.708C>T (p.Asp236=)
|
rs550622194
|
0.00005
|
NM_001258392.3(CLPB):c.1362T>A (p.Ile454=)
|
rs547364848
|
0.00005
|
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=)
|
rs199965220
|
0.00005
|
NM_001258392.3(CLPB):c.582C>T (p.Asn194=)
|
rs200063494
|
0.00005
|
NM_001258392.3(CLPB):c.651G>C (p.Leu217=)
|
rs375214732
|
0.00005
|
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu)
|
rs200120256
|
0.00005
|
NM_001271.4(CHD2):c.1719+12A>G
|
rs754059204
|
0.00005
|
NM_001271.4(CHD2):c.2562T>C (p.Asn854=)
|
rs1035687846
|
0.00005
|
NM_001271.4(CHD2):c.2835C>T (p.Thr945=)
|
rs752124959
|
0.00005
|
NM_001271.4(CHD2):c.4482C>T (p.Asn1494=)
|
rs565686460
|
0.00005
|
NM_001271.4(CHD2):c.4644G>A (p.Leu1548=)
|
rs138836603
|
0.00005
|
NM_001271.4(CHD2):c.5154-19C>T
|
rs777949860
|
0.00005
|
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)
|
rs759178651
|
0.00005
|
NM_001352514.2(HLCS):c.2622A>G (p.Ter874=)
|
rs375809125
|
0.00005
|
NM_001370658.1(BTD):c.1188C>T (p.His396=)
|
rs372039874
|
0.00005
|
NM_001370658.1(BTD):c.39C>T (p.Cys13=)
|
rs201564216
|
0.00005
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
NM_001609.4(ACADSB):c.603C>G (p.Leu201=)
|
rs368834489
|
0.00005
|
NM_001609.4(ACADSB):c.682-20G>A
|
rs142778552
|
0.00005
|
NM_001698.3(AUH):c.795C>T (p.Asp265=)
|
rs761573002
|
0.00005
|
NM_001739.2(CA5A):c.438C>T (p.Asp146=)
|
rs143279008
|
0.00005
|
NM_001875.5(CPS1):c.1632G>A (p.Thr544=)
|
rs755530984
|
0.00005
|
NM_001875.5(CPS1):c.2733G>A (p.Gly911=)
|
rs571189660
|
0.00005
|
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)
|
rs146064786
|
0.00005
|
NM_001876.4(CPT1A):c.1392C>T (p.Asn464=)
|
rs138700687
|
0.00005
|
NM_001876.4(CPT1A):c.1731G>A (p.Ala577=)
|
rs140468410
|
0.00005
|
NM_001876.4(CPT1A):c.2142+9G>A
|
rs753764564
|
0.00005
|
NM_001876.4(CPT1A):c.327G>A (p.Leu109=)
|
rs1047202617
|
0.00005
|
NM_001876.4(CPT1A):c.434G>A (p.Arg145His)
|
rs373015421
|
0.00005
|
NM_001876.4(CPT1A):c.633C>T (p.Val211=)
|
rs775908039
|
0.00005
|
NM_001918.5(DBT):c.291C>T (p.Ser97=)
|
rs201318480
|
0.00005
|
NM_001958.5(EEF1A2):c.621+9C>T
|
rs758255976
|
0.00005
|
NM_001958.5(EEF1A2):c.738G>C (p.Leu246=)
|
rs1333751988
|
0.00005
|
NM_001958.5(EEF1A2):c.773-14C>T
|
rs754466423
|
0.00005
|
NM_001958.5(EEF1A2):c.773-6C>T
|
rs377166905
|
0.00005
|
NM_001958.5(EEF1A2):c.912C>T (p.Pro304=)
|
rs370076840
|
0.00005
|
NM_001985.3(ETFB):c.216+7A>G
|
rs910583174
|
0.00005
|
NM_001985.3(ETFB):c.582G>A (p.Thr194=)
|
rs376679757
|
0.00005
|
NM_002225.5(IVD):c.111T>C (p.Asp37=)
|
rs887220079
|
0.00005
|
NM_002225.5(IVD):c.303C>T (p.Ser101=)
|
rs749482459
|
0.00005
|
NM_002225.5(IVD):c.816T>C (p.Gly272=)
|
rs753508865
|
0.00005
|
NM_003042.4(SLC6A1):c.1032C>T (p.Phe344=)
|
rs370079283
|
0.00005
|
NM_003042.4(SLC6A1):c.258T>C (p.Tyr86=)
|
rs765030652
|
0.00005
|
NM_003042.4(SLC6A1):c.381T>C (p.Leu127=)
|
rs753023286
|
0.00005
|
NM_003042.4(SLC6A1):c.715-16C>T
|
rs761013218
|
0.00005
|
NM_003060.4(SLC22A5):c.1458C>T (p.Tyr486=)
|
rs763224132
|
0.00005
|
NM_003982.4(SLC7A7):c.480G>A (p.Leu160=)
|
rs143867688
|
0.00005
|
NM_004408.4(DNM1):c.1422+7C>A
|
rs761674210
|
0.00005
|
NM_004408.4(DNM1):c.1893+12G>A
|
rs376700785
|
0.00005
|
NM_004408.4(DNM1):c.2226C>T (p.Ile742=)
|
rs760982623
|
0.00005
|
NM_004453.4(ETFDH):c.35-15G>A
|
rs529832630
|
0.00005
|
NM_004453.4(ETFDH):c.678A>G (p.Ala226=)
|
rs372865586
|
0.00005
|
NM_004483.5(GCSH):c.84G>A (p.Pro28=)
|
rs775381594
|
0.00005
|
NM_004937.3(CTNS):c.225+19C>T
|
rs550960394
|
0.00005
|
NM_004937.3(CTNS):c.600C>T (p.Pro200=)
|
rs577044481
|
0.00005
|
NM_004937.3(CTNS):c.628C>T (p.Leu210=)
|
rs531995684
|
0.00005
|
NM_004974.4(KCNA2):c.1107C>T (p.Val369=)
|
rs141466713
|
0.00005
|
NM_004975.4(KCNB1):c.2327A>G (p.Lys776Arg)
|
rs756982426
|
0.00005
|
NM_004975.4(KCNB1):c.39C>T (p.Thr13=)
|
rs775536644
|
0.00005
|
NM_004975.4(KCNB1):c.504C>T (p.Cys168=)
|
rs139960830
|
0.00005
|
NM_004975.4(KCNB1):c.855C>T (p.Ser285=)
|
rs367938880
|
0.00005
|
NM_005050.4(ABCD4):c.1495T>C (p.Leu499=)
|
rs561519173
|
0.00005
|
NM_005050.4(ABCD4):c.249A>G (p.Thr83=)
|
rs773214307
|
0.00005
|
NM_005271.5(GLUD1):c.585T>C (p.Asp195=)
|
rs756647962
|
0.00005
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
NM_005327.7(HADH):c.709+18G>A
|
rs369931989
|
0.00005
|
NM_005334.3(HCFC1):c.1317G>A (p.Pro439=)
|
rs781810369
|
0.00005
|
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=)
|
rs1459988694
|
0.00005
|
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=)
|
rs782017804
|
0.00005
|
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=)
|
rs782670703
|
0.00005
|
NM_005518.4(HMGCS2):c.851-19T>C
|
rs373541639
|
0.00005
|
NM_005957.5(MTHFR):c.1378C>T (p.Leu460=)
|
rs200180238
|
0.00005
|
NM_005957.5(MTHFR):c.1491C>T (p.Ile497=)
|
rs143480693
|
0.00005
|
NM_006623.4(PHGDH):c.372G>A (p.Ala124=)
|
rs146740411
|
0.00005
|
NM_006623.4(PHGDH):c.549G>A (p.Ser183=)
|
rs776140200
|
0.00005
|
NM_006859.4(LIAS):c.393+7C>T
|
rs372423537
|
0.00005
|
NM_006859.4(LIAS):c.609-19T>C
|
rs1169661442
|
0.00005
|
NM_012213.3(MLYCD):c.798+8C>T
|
rs199720670
|
0.00005
|
NM_014251.3(SLC25A13):c.165A>G (p.Pro55=)
|
rs945380705
|
0.00005
|
NM_014251.3(SLC25A13):c.1869T>C (p.Pro623=)
|
rs201931382
|
0.00005
|
NM_014251.3(SLC25A13):c.960A>G (p.Pro320=)
|
rs765358773
|
0.00005
|
NM_014252.4(SLC25A15):c.381G>A (p.Thr127=)
|
rs543205273
|
0.00005
|
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met)
|
rs553432772
|
0.00005
|
NM_014252.4(SLC25A15):c.417G>A (p.Glu139=)
|
rs752316567
|
0.00005
|
NM_014252.4(SLC25A15):c.788C>T (p.Thr263Met)
|
rs140242288
|
0.00005
|
NM_014384.3(ACAD8):c.408C>T (p.Phe136=)
|
rs143408080
|
0.00005
|
NM_015509.4(NECAP1):c.301+15A>C
|
rs779900246
|
0.00005
|
NM_015509.4(NECAP1):c.417A>G (p.Glu139=)
|
rs778506326
|
0.00005
|
NM_015662.3(IFT172):c.1168-7G>A
|
rs373380537
|
0.00005
|
NM_015662.3(IFT172):c.1678A>G (p.Met560Val)
|
rs763516858
|
0.00005
|
NM_015662.3(IFT172):c.2670C>T (p.Ala890=)
|
rs374065796
|
0.00005
|
NM_018368.4(LMBRD1):c.474-20A>G
|
rs952976480
|
0.00005
|
NM_018706.7(DHTKD1):c.1897-15C>T
|
rs767082732
|
0.00005
|
NM_018706.7(DHTKD1):c.2048-18C>A
|
rs532827857
|
0.00005
|
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
|
rs199528231
|
0.00005
|
NM_020166.5(MCCC1):c.2050-17G>C
|
rs371009096
|
0.00005
|
NM_020686.6(ABAT):c.70+9C>T
|
rs374147109
|
0.00005
|
NM_020686.6(ABAT):c.954+17G>A
|
rs896794473
|
0.00005
|
NM_022132.5(MCCC2):c.162T>C (p.Asn54=)
|
rs774812912
|
0.00005
|
NM_022132.5(MCCC2):c.1650C>T (p.Asn550=)
|
rs200915932
|
0.00005
|
NM_022132.5(MCCC2):c.72C>T (p.His24=)
|
rs374686220
|
0.00005
|
NM_030813.6(CLPB):c.660C>T (p.Asp220=)
|
rs759358526
|
0.00005
|
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
|
rs142070439
|
0.00005
|
NM_054012.4(ASS1):c.552C>T (p.Asn184=)
|
rs368192467
|
0.00005
|
NM_054012.4(ASS1):c.624G>A (p.Thr208=)
|
rs759518085
|
0.00005
|
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp)
|
rs200238482
|
0.00005
|
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
|
rs199749473
|
0.00005
|
NM_172250.3(MMAA):c.1221A>G (p.Ala407=)
|
rs767115507
|
0.00005
|
NM_172250.3(MMAA):c.912G>A (p.Ala304=)
|
rs371769807
|
0.00005
|
NM_177550.5(SLC13A5):c.1449C>T (p.Ile483=)
|
rs769760541
|
0.00005
|
NM_177550.5(SLC13A5):c.498C>T (p.Thr166=)
|
rs906604048
|
0.00005
|
NM_183050.4(BCKDHB):c.197-16T>C
|
rs759961267
|
0.00005
|
NM_201253.3(CRB1):c.3534C>T (p.Ile1178=)
|
rs753331276
|
0.00005
|
NM_000016.6(ACADM):c.287-10G>C
|
rs368875210
|
0.00004
|
NM_000016.6(ACADM):c.426G>A (p.Lys142=)
|
rs565131848
|
0.00004
|
NM_000016.6(ACADM):c.468+19C>T
|
rs762564037
|
0.00004
|
NM_000016.6(ACADM):c.57T>C (p.His19=)
|
rs762984318
|
0.00004
|
NM_000016.6(ACADM):c.960A>G (p.Ser320=)
|
rs138728545
|
0.00004
|
NM_000017.4(ACADS):c.1104C>T (p.Gly368=)
|
rs200165866
|
0.00004
|
NM_000017.4(ACADS):c.888T>C (p.Asn296=)
|
rs111686208
|
0.00004
|
NM_000017.4(ACADS):c.905C>T (p.Ala302Val)
|
rs770009021
|
0.00004
|
NM_000017.4(ACADS):c.934-18G>C
|
rs371199821
|
0.00004
|
NM_000018.4(ACADVL):c.1332+10G>A
|
rs763921736
|
0.00004
|
NM_000018.4(ACADVL):c.139-20C>T
|
rs374535729
|
0.00004
|
NM_000018.4(ACADVL):c.1752-17C>T
|
rs750855741
|
0.00004
|
NM_000018.4(ACADVL):c.1857C>T (p.Ala619=)
|
rs375730795
|
0.00004
|
NM_000018.4(ACADVL):c.255T>C (p.Asp85=)
|
rs201085520
|
0.00004
|
NM_000018.4(ACADVL):c.342+15G>A
|
rs777751102
|
0.00004
|
NM_000019.4(ACAT1):c.1006-17C>G
|
rs1409314804
|
0.00004
|
NM_000019.4(ACAT1):c.384A>G (p.Ser128=)
|
rs374439037
|
0.00004
|
NM_000019.4(ACAT1):c.436-5C>T
|
rs369472868
|
0.00004
|
NM_000019.4(ACAT1):c.546C>T (p.Asp182=)
|
rs373393997
|
0.00004
|
NM_000019.4(ACAT1):c.636C>T (p.Asp212=)
|
rs759659537
|
0.00004
|
NM_000019.4(ACAT1):c.730+12G>A
|
rs559179516
|
0.00004
|
NM_000019.4(ACAT1):c.918T>A (p.Val306=)
|
rs200318899
|
0.00004
|
NM_000026.4(ADSL):c.1011-9G>C
|
rs780794164
|
0.00004
|
NM_000026.4(ADSL):c.1102-4A>G
|
rs371780382
|
0.00004
|
NM_000026.4(ADSL):c.153+7G>A
|
rs376477242
|
0.00004
|
NM_000026.4(ADSL):c.408C>T (p.Ala136=)
|
rs368166273
|
0.00004
|
NM_000026.4(ADSL):c.801C>T (p.Thr267=)
|
rs369069575
|
0.00004
|
NM_000026.4(ADSL):c.870T>C (p.Ser290=)
|
rs146890981
|
0.00004
|
NM_000045.4(ARG1):c.306-16A>T
|
rs772341418
|
0.00004
|
NM_000045.4(ARG1):c.471C>T (p.Pro157=)
|
rs766853875
|
0.00004
|
NM_000045.4(ARG1):c.564C>T (p.Tyr188=)
|
rs376378819
|
0.00004
|
NM_000045.4(ARG1):c.822T>C (p.Asp274=)
|
rs1353394805
|
0.00004
|
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr)
|
rs202219126
|
0.00004
|
NM_000048.4(ASL):c.1063-8G>A
|
rs548397162
|
0.00004
|
NM_000048.4(ASL):c.13-4C>T
|
rs201082875
|
0.00004
|
NM_000048.4(ASL):c.159G>A (p.Gly53=)
|
rs745883849
|
0.00004
|
NM_000048.4(ASL):c.219G>A (p.Glu73=)
|
rs775520810
|
0.00004
|
NM_000048.4(ASL):c.348+8A>T
|
rs757626168
|
0.00004
|
NM_000048.4(ASL):c.369G>A (p.Leu123=)
|
rs968632275
|
0.00004
|
NM_000048.4(ASL):c.528C>T (p.His176=)
|
rs150557376
|
0.00004
|
NM_000071.3(CBS):c.1145+10G>A
|
rs150863939
|
0.00004
|
NM_000071.3(CBS):c.1281G>A (p.Pro427=)
|
rs563330591
|
0.00004
|
NM_000071.3(CBS):c.1512G>A (p.Glu504=)
|
rs149170219
|
0.00004
|
NM_000071.3(CBS):c.175C>T (p.Pro59Ser)
|
rs376496085
|
0.00004
|
NM_000071.3(CBS):c.18C>T (p.Pro6=)
|
rs777370660
|
0.00004
|
NM_000071.3(CBS):c.342G>A (p.Ala114=)
|
rs145338910
|
0.00004
|
NM_000071.3(CBS):c.501C>T (p.Ile167=)
|
rs754246295
|
0.00004
|
NM_000108.5(DLD):c.951C>G (p.Pro317=)
|
rs778207997
|
0.00004
|
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=)
|
rs782471244
|
0.00004
|
NM_000116.5(TAFAZZIN):c.583+10G>A
|
rs370536414
|
0.00004
|
NM_000116.5(TAFAZZIN):c.584-7T>C
|
rs397515745
|
0.00004
|
NM_000126.4(ETFA):c.345C>T (p.Phe115=)
|
rs760557143
|
0.00004
|
NM_000137.4(FAH):c.270T>C (p.Ser90=)
|
rs1353456033
|
0.00004
|
NM_000137.4(FAH):c.408C>T (p.Asn136=)
|
rs111972793
|
0.00004
|
NM_000137.4(FAH):c.441G>A (p.Ala147=)
|
rs141863249
|
0.00004
|
NM_000137.4(FAH):c.81+8G>A
|
rs188046704
|
0.00004
|
NM_000137.4(FAH):c.82-14C>T
|
rs746674102
|
0.00004
|
NM_000137.4(FAH):c.975G>C (p.Thr325=)
|
rs776473288
|
0.00004
|
NM_000156.6(GAMT):c.378C>T (p.Asp126=)
|
rs538244028
|
0.00004
|
NM_000156.6(GAMT):c.402C>T (p.Tyr134=)
|
rs556829801
|
0.00004
|
NM_000156.6(GAMT):c.585C>T (p.Pro195=)
|
rs371024035
|
0.00004
|
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn)
|
rs753228876
|
0.00004
|
NM_000159.4(GCDH):c.1188C>T (p.Asp396=)
|
rs779968566
|
0.00004
|
NM_000159.4(GCDH):c.1275G>A (p.Gly425=)
|
rs778633875
|
0.00004
|
NM_000159.4(GCDH):c.285G>A (p.Glu95=)
|
rs772071645
|
0.00004
|
NM_000159.4(GCDH):c.945C>T (p.Tyr315=)
|
rs138133019
|
0.00004
|
NM_000159.4(GCDH):c.976C>T (p.Leu326=)
|
rs907822395
|
0.00004
|
NM_000161.3(GCH1):c.509+19T>C
|
rs374420051
|
0.00004
|
NM_000161.3(GCH1):c.510-19A>T
|
rs778122258
|
0.00004
|
NM_000170.3(GLDC):c.1110A>G (p.Gln370=)
|
rs778787964
|
0.00004
|
NM_000170.3(GLDC):c.1308T>C (p.Asp436=)
|
rs1314627231
|
0.00004
|
NM_000170.3(GLDC):c.1483-15G>C
|
rs371777070
|
0.00004
|
NM_000170.3(GLDC):c.150G>A (p.Ser50=)
|
rs768354829
|
0.00004
|
NM_000170.3(GLDC):c.1534G>C (p.Val512Leu)
|
rs751521889
|
0.00004
|
NM_000170.3(GLDC):c.1580+9G>A
|
rs759094314
|
0.00004
|
NM_000170.3(GLDC):c.1626A>G (p.Glu542=)
|
rs779537709
|
0.00004
|
NM_000170.3(GLDC):c.1666-6T>C
|
rs766481730
|
0.00004
|
NM_000170.3(GLDC):c.2202+8C>A
|
rs577906178
|
0.00004
|
NM_000170.3(GLDC):c.228A>G (p.Arg76=)
|
rs749103956
|
0.00004
|
NM_000170.3(GLDC):c.2304G>A (p.Gly768=)
|
rs533775952
|
0.00004
|
NM_000170.3(GLDC):c.2397C>T (p.Thr799=)
|
rs778396953
|
0.00004
|
NM_000170.3(GLDC):c.2406G>A (p.Ala802=)
|
rs368811775
|
0.00004
|
NM_000170.3(GLDC):c.2565A>C (p.Ala855=)
|
rs966395392
|
0.00004
|
NM_000170.3(GLDC):c.2673C>T (p.His891=)
|
rs144939090
|
0.00004
|
NM_000170.3(GLDC):c.2832G>A (p.Pro944=)
|
rs764242927
|
0.00004
|
NM_000170.3(GLDC):c.2862C>T (p.Cys954=)
|
rs780534916
|
0.00004
|
NM_000170.3(GLDC):c.2919+17T>G
|
rs372909849
|
0.00004
|
NM_000170.3(GLDC):c.310C>A (p.Pro104Thr)
|
rs543718579
|
0.00004
|
NM_000170.3(GLDC):c.335-10C>T
|
rs373940475
|
0.00004
|
NM_000170.3(GLDC):c.471-20A>G
|
rs750857265
|
0.00004
|
NM_000170.3(GLDC):c.489A>G (p.Pro163=)
|
rs770044310
|
0.00004
|
NM_000170.3(GLDC):c.699C>T (p.Val233=)
|
rs372130842
|
0.00004
|
NM_000182.5(HADHA):c.1086-12C>T
|
rs767692992
|
0.00004
|
NM_000182.5(HADHA):c.1141G>A (p.Val381Met)
|
rs764067083
|
0.00004
|
NM_000182.5(HADHA):c.1209A>G (p.Gln403=)
|
rs780178287
|
0.00004
|
NM_000182.5(HADHA):c.1542C>T (p.Thr514=)
|
rs374189575
|
0.00004
|
NM_000182.5(HADHA):c.1554C>A (p.Ser518=)
|
rs765162716
|
0.00004
|
NM_000182.5(HADHA):c.1788G>A (p.Ala596=)
|
rs190409957
|
0.00004
|
NM_000182.5(HADHA):c.504A>G (p.Val168=)
|
rs1004279547
|
0.00004
|
NM_000182.5(HADHA):c.585T>A (p.Pro195=)
|
rs202034466
|
0.00004
|
NM_000182.5(HADHA):c.858G>A (p.Val286=)
|
rs373864418
|
0.00004
|
NM_000187.4(HGD):c.1027A>C (p.Met343Leu)
|
rs755078457
|
0.00004
|
NM_000187.4(HGD):c.177-5T>C
|
rs768308376
|
0.00004
|
NM_000187.4(HGD):c.24T>C (p.Ser8=)
|
rs745386219
|
0.00004
|
NM_000187.4(HGD):c.6T>A (p.Ala2=)
|
rs1308413187
|
0.00004
|
NM_000187.4(HGD):c.807C>T (p.His269=)
|
rs758567130
|
0.00004
|
NM_000191.3(HMGCL):c.145-13C>T
|
rs762224192
|
0.00004
|
NM_000191.3(HMGCL):c.717T>G (p.Gly239=)
|
rs370708710
|
0.00004
|
NM_000240.4(MAOA):c.1262+18C>T
|
rs372784589
|
0.00004
|
NM_000240.4(MAOA):c.702C>T (p.Leu234=)
|
rs370853887
|
0.00004
|
NM_000254.3(MTR):c.1086C>G (p.Pro362=)
|
rs779393795
|
0.00004
|
NM_000254.3(MTR):c.1128G>A (p.Glu376=)
|
rs759636736
|
0.00004
|
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser)
|
rs200479834
|
0.00004
|
NM_000254.3(MTR):c.1722T>C (p.Ser574=)
|
rs142857114
|
0.00004
|
NM_000254.3(MTR):c.2328G>T (p.Val776=)
|
rs980038551
|
0.00004
|
NM_000254.3(MTR):c.2474-20T>A
|
rs377347275
|
0.00004
|
NM_000254.3(MTR):c.2718T>C (p.Phe906=)
|
rs371962565
|
0.00004
|
NM_000254.3(MTR):c.996-5C>T
|
rs914525473
|
0.00004
|
NM_000274.4(OAT):c.1002C>T (p.Ile334=)
|
rs757744354
|
0.00004
|
NM_000274.4(OAT):c.1056G>A (p.Leu352=)
|
rs766145396
|
0.00004
|
NM_000274.4(OAT):c.425-13T>C
|
rs752220933
|
0.00004
|
NM_000274.4(OAT):c.543G>A (p.Thr181=)
|
rs558611630
|
0.00004
|
NM_000274.4(OAT):c.772-10T>C
|
rs759900831
|
0.00004
|
NM_000276.4(OCRL):c.1713+6C>G
|
rs191367057
|
0.00004
|
NM_000277.3(PAH):c.1002C>T (p.Cys334=)
|
rs140243918
|
0.00004
|
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)
|
rs62517206
|
0.00004
|
NM_000277.3(PAH):c.420G>A (p.Ala140=)
|
rs200366386
|
0.00004
|
NM_000277.3(PAH):c.441+7C>A
|
rs775999845
|
0.00004
|
NM_000277.3(PAH):c.588C>T (p.Ser196=)
|
rs755420480
|
0.00004
|
NM_000281.4(PCBD1):c.246T>C (p.Cys82=)
|
rs371676743
|
0.00004
|
NM_000282.4(PCCA):c.1176C>T (p.Asn392=)
|
rs138597181
|
0.00004
|
NM_000282.4(PCCA):c.184-6C>T
|
rs542777393
|
0.00004
|
NM_000282.4(PCCA):c.2025C>G (p.Val675=)
|
rs891946343
|
0.00004
|
NM_000282.4(PCCA):c.2040+11T>C
|
rs200641726
|
0.00004
|
NM_000282.4(PCCA):c.327T>C (p.Ala109=)
|
rs764005205
|
0.00004
|
NM_000282.4(PCCA):c.525C>T (p.Gly175=)
|
rs151168308
|
0.00004
|
NM_000282.4(PCCA):c.645T>G (p.Pro215=)
|
rs751840442
|
0.00004
|
NM_000282.4(PCCA):c.768T>C (p.Asp256=)
|
rs1239656926
|
0.00004
|
NM_000282.4(PCCA):c.819+9A>G
|
rs372739944
|
0.00004
|
NM_000282.4(PCCA):c.825A>G (p.Leu275=)
|
rs376560248
|
0.00004
|
NM_000317.3(PTS):c.144C>T (p.Gly48=)
|
rs778754646
|
0.00004
|
NM_000317.3(PTS):c.244-13G>C
|
rs374541778
|
0.00004
|
NM_000317.3(PTS):c.420G>T (p.Val140=)
|
rs146364246
|
0.00004
|
NM_000317.3(PTS):c.83+10G>C
|
rs372809628
|
0.00004
|
NM_000320.3(QDPR):c.408C>T (p.Gly136=)
|
rs3733569
|
0.00004
|
NM_000320.3(QDPR):c.629+18G>A
|
rs758057470
|
0.00004
|
NM_000320.3(QDPR):c.630-20A>C
|
rs769294923
|
0.00004
|
NM_000329.3(RPE65):c.1104T>C (p.Tyr368=)
|
rs764797700
|
0.00004
|
NM_000329.3(RPE65):c.1129-5C>T
|
rs368533067
|
0.00004
|
NM_000329.3(RPE65):c.1244-17T>A
|
rs528268427
|
0.00004
|
NM_000329.3(RPE65):c.75G>A (p.Pro25=)
|
rs199529021
|
0.00004
|
NM_000329.3(RPE65):c.94+10G>A
|
rs777879312
|
0.00004
|
NM_000329.3(RPE65):c.942C>T (p.His314=)
|
rs752875512
|
0.00004
|
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=)
|
rs760943092
|
0.00004
|
NM_000353.3(TAT):c.1239G>A (p.Pro413=)
|
rs146926467
|
0.00004
|
NM_000353.3(TAT):c.192G>A (p.Lys64=)
|
rs1246137962
|
0.00004
|
NM_000353.3(TAT):c.360G>A (p.Glu120=)
|
rs752517713
|
0.00004
|
NM_000360.4(TH):c.1296C>T (p.Phe432=)
|
rs760210103
|
0.00004
|
NM_000360.4(TH):c.1317C>T (p.Asp439=)
|
rs375440221
|
0.00004
|
NM_000360.4(TH):c.132C>T (p.Asp44=)
|
rs767310984
|
0.00004
|
NM_000360.4(TH):c.1470C>G (p.Ala490=)
|
rs777477661
|
0.00004
|
NM_000360.4(TH):c.153G>A (p.Ala51=)
|
rs149580405
|
0.00004
|
NM_000360.4(TH):c.24G>A (p.Thr8=)
|
rs529205525
|
0.00004
|
NM_000360.4(TH):c.312+17C>T
|
rs368788352
|
0.00004
|
NM_000360.4(TH):c.90+30G>A
|
rs200408490
|
0.00004
|
NM_000387.6(SLC25A20):c.844-19C>T
|
rs1057522215
|
0.00004
|
NM_000481.4(AMT):c.195C>T (p.His65=)
|
rs145243292
|
0.00004
|
NM_000481.4(AMT):c.283G>A (p.Val95Met)
|
rs183396486
|
0.00004
|
NM_000481.4(AMT):c.642C>T (p.Gly214=)
|
rs759245586
|
0.00004
|
NM_000481.4(AMT):c.789C>T (p.Ser263=)
|
rs753177107
|
0.00004
|
NM_000531.6(OTC):c.360G>A (p.Val120=)
|
rs768780957
|
0.00004
|
NM_000532.5(PCCB):c.1371C>T (p.Thr457=)
|
rs140630332
|
0.00004
|
NM_000532.5(PCCB):c.1498+10T>G
|
rs777201996
|
0.00004
|
NM_000532.5(PCCB):c.1499-20C>T
|
rs183824739
|
0.00004
|
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)
|
rs577625696
|
0.00004
|
NM_000532.5(PCCB):c.183+17C>T
|
rs776965589
|
0.00004
|
NM_000532.5(PCCB):c.246C>T (p.Ser82=)
|
rs150449954
|
0.00004
|
NM_000532.5(PCCB):c.372+17A>G
|
rs192106664
|
0.00004
|
NM_000532.5(PCCB):c.402A>G (p.Ser134=)
|
rs200988668
|
0.00004
|
NM_000532.5(PCCB):c.51G>A (p.Leu17=)
|
rs1262464904
|
0.00004
|
NM_000532.5(PCCB):c.663C>G (p.Ser221=)
|
rs771455499
|
0.00004
|
NM_000554.6(CRX):c.42C>T (p.Asn14=)
|
rs774344094
|
0.00004
|
NM_000554.6(CRX):c.585C>T (p.Tyr195=)
|
rs373497612
|
0.00004
|
NM_000554.6(CRX):c.648C>T (p.Ser216=)
|
rs772398140
|
0.00004
|
NM_000554.6(CRX):c.720C>G (p.Pro240=)
|
rs748655180
|
0.00004
|
NM_000554.6(CRX):c.789C>T (p.Pro263=)
|
rs550083287
|
0.00004
|
NM_000554.6(CRX):c.9G>A (p.Ala3=)
|
rs140766502
|
0.00004
|
NM_000687.4(AHCY):c.393C>T (p.Asp131=)
|
rs553442034
|
0.00004
|
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=)
|
rs373390136
|
0.00004
|
NM_000709.4(BCKDHA):c.351C>T (p.Arg117=)
|
rs573976272
|
0.00004
|
NM_000709.4(BCKDHA):c.921C>T (p.Tyr307=)
|
rs758972542
|
0.00004
|
NM_001002755.4(NFU1):c.546-16T>C
|
rs750424685
|
0.00004
|
NM_001010867.4(IBA57):c.114T>C (p.Pro38=)
|
rs1051788506
|
0.00004
|
NM_001024845.3(SLC6A9):c.1336-12G>A
|
rs201040295
|
0.00004
|
NM_001024845.3(SLC6A9):c.1537-9C>G
|
rs201085053
|
0.00004
|
NM_001024845.3(SLC6A9):c.319+14G>A
|
rs201038599
|
0.00004
|
NM_001024845.3(SLC6A9):c.468C>T (p.Cys156=)
|
rs777756958
|
0.00004
|
NM_001080.3(ALDH5A1):c.1343+20G>A
|
rs374536399
|
0.00004
|
NM_001080.3(ALDH5A1):c.1403-20G>A
|
rs201826601
|
0.00004
|
NM_001080.3(ALDH5A1):c.1428C>T (p.Ala476=)
|
rs1003592170
|
0.00004
|
NM_001080.3(ALDH5A1):c.1530C>T (p.Ser510=)
|
rs780090048
|
0.00004
|
NM_001080.3(ALDH5A1):c.1539G>A (p.Gly513=)
|
rs778867668
|
0.00004
|
NM_001080.3(ALDH5A1):c.1596C>T (p.Tyr532=)
|
rs370544116
|
0.00004
|
NM_001080.3(ALDH5A1):c.22C>T (p.Arg8Trp)
|
rs767601869
|
0.00004
|
NM_001080.3(ALDH5A1):c.606C>A (p.Thr202=)
|
rs375585467
|
0.00004
|
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=)
|
rs188108571
|
0.00004
|
NM_001127222.2(CACNA1A):c.1080A>C (p.Ser360=)
|
rs920116858
|
0.00004
|
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=)
|
rs764453012
|
0.00004
|
NM_001127222.2(CACNA1A):c.1262G>A (p.Arg421Gln)
|
rs752902118
|
0.00004
|
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)
|
rs561858384
|
0.00004
|
NM_001127222.2(CACNA1A):c.2105-8A>G
|
rs763822129
|
0.00004
|
NM_001127222.2(CACNA1A):c.219G>C (p.Thr73=)
|
rs781239273
|
0.00004
|
NM_001127222.2(CACNA1A):c.2279+12del
|
rs764839773
|
0.00004
|
NM_001127222.2(CACNA1A):c.2280-16_2280-7del
|
rs756552078
|
0.00004
|
NM_001127222.2(CACNA1A):c.2677C>T (p.Arg893Trp)
|
rs1262547488
|
0.00004
|
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser)
|
rs751726770
|
0.00004
|
NM_001127222.2(CACNA1A):c.2712C>T (p.His904=)
|
rs759320715
|
0.00004
|
NM_001127222.2(CACNA1A):c.2718G>A (p.Arg906=)
|
rs909344317
|
0.00004
|
NM_001127222.2(CACNA1A):c.27G>T (p.Pro9=)
|
rs547576283
|
0.00004
|
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr)
|
rs1406066197
|
0.00004
|
NM_001127222.2(CACNA1A):c.3106G>A (p.Gly1036Arg)
|
rs762343454
|
0.00004
|
NM_001127222.2(CACNA1A):c.3120G>A (p.Ser1040=)
|
rs763969240
|
0.00004
|
NM_001127222.2(CACNA1A):c.3122G>T (p.Gly1041Val)
|
rs370396470
|
0.00004
|
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser)
|
rs775079932
|
0.00004
|
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr)
|
rs554091859
|
0.00004
|
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile)
|
rs373224251
|
0.00004
|
NM_001127222.2(CACNA1A):c.3612G>A (p.Glu1204=)
|
rs749273165
|
0.00004
|
NM_001127222.2(CACNA1A):c.3621C>T (p.Asp1207=)
|
rs368211900
|
0.00004
|
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn)
|
rs750231498
|
0.00004
|
NM_001127222.2(CACNA1A):c.3843C>T (p.Tyr1281=)
|
rs774224202
|
0.00004
|
NM_001127222.2(CACNA1A):c.3882+7G>A
|
rs376836245
|
0.00004
|
NM_001127222.2(CACNA1A):c.3989+11T>C
|
rs762686149
|
0.00004
|
NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=)
|
rs368100270
|
0.00004
|
NM_001127222.2(CACNA1A):c.4866+10A>G
|
rs746939321
|
0.00004
|
NM_001127222.2(CACNA1A):c.486C>T (p.Gly162=)
|
rs753180610
|
0.00004
|
NM_001127222.2(CACNA1A):c.4891A>G (p.Ile1631Val)
|
rs539463134
|
0.00004
|
NM_001127222.2(CACNA1A):c.5067+11G>A
|
rs761890193
|
0.00004
|
NM_001127222.2(CACNA1A):c.539+10G>A
|
rs375079448
|
0.00004
|
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=)
|
rs188863534
|
0.00004
|
NM_001127222.2(CACNA1A):c.5528+7A>G
|
rs367551746
|
0.00004
|
NM_001127222.2(CACNA1A):c.5529-1222T>C
|
rs374688464
|
0.00004
|
NM_001127222.2(CACNA1A):c.5922G>A (p.Gln1974=)
|
rs773419069
|
0.00004
|
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)
|
rs745775887
|
0.00004
|
NM_001127222.2(CACNA1A):c.6160G>A (p.Asp2054Asn)
|
rs761560224
|
0.00004
|
NM_001127222.2(CACNA1A):c.6189+9G>T
|
rs568861195
|
0.00004
|
NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys)
|
rs752513542
|
0.00004
|
NM_001127222.2(CACNA1A):c.6304-14T>C
|
rs776930613
|
0.00004
|
NM_001127222.2(CACNA1A):c.631+14C>T
|
rs1377159542
|
0.00004
|
NM_001127222.2(CACNA1A):c.6339+12G>A
|
rs371246823
|
0.00004
|
NM_001127222.2(CACNA1A):c.6339+9C>T
|
rs369361580
|
0.00004
|
NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp)
|
rs759576380
|
0.00004
|
NM_001127222.2(CACNA1A):c.687C>T (p.Ile229=)
|
rs544057763
|
0.00004
|
NM_001127222.2(CACNA1A):c.784+9A>G
|
rs746215285
|
0.00004
|
NM_001127222.2(CACNA1A):c.984C>T (p.Asn328=)
|
rs772301380
|
0.00004
|
NM_001243279.3(ACSF3):c.1113C>T (p.Ala371=)
|
rs201792144
|
0.00004
|
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=)
|
rs766713747
|
0.00004
|
NM_001243279.3(ACSF3):c.1251G>T (p.Gly417=)
|
rs3743984
|
0.00004
|
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=)
|
rs755163107
|
0.00004
|
NM_001243279.3(ACSF3):c.666+9C>T
|
rs767663198
|
0.00004
|
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=)
|
rs377354800
|
0.00004
|
NM_001243279.3(ACSF3):c.759G>A (p.Ala253=)
|
rs765643653
|
0.00004
|
NM_001243279.3(ACSF3):c.936C>T (p.His312=)
|
rs202119269
|
0.00004
|
NM_001258392.3(CLPB):c.1236G>A (p.Lys412=)
|
rs538912422
|
0.00004
|
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=)
|
rs758906536
|
0.00004
|
NM_001258392.3(CLPB):c.543-20_543-18del
|
rs759265435
|
0.00004
|
NM_001258392.3(CLPB):c.646+7371C>T
|
rs369768699
|
0.00004
|
NM_001271.4(CHD2):c.1359C>T (p.Ile453=)
|
rs777978644
|
0.00004
|
NM_001271.4(CHD2):c.1809+3G>A
|
rs778257286
|
0.00004
|
NM_001271.4(CHD2):c.2601A>G (p.Thr867=)
|
rs145367388
|
0.00004
|
NM_001271.4(CHD2):c.3012G>A (p.Thr1004=)
|
rs775751349
|
0.00004
|
NM_001271.4(CHD2):c.4025G>A (p.Arg1342Gln)
|
rs143503275
|
0.00004
|
NM_001271.4(CHD2):c.4032T>G (p.Pro1344=)
|
rs547927047
|
0.00004
|
NM_001271.4(CHD2):c.4458C>T (p.Leu1486=)
|
rs772169751
|
0.00004
|
NM_001271.4(CHD2):c.4592+17C>T
|
rs184611897
|
0.00004
|
NM_001271.4(CHD2):c.5247C>T (p.Pro1749=)
|
rs766244767
|
0.00004
|
NM_001271.4(CHD2):c.600A>G (p.Gly200=)
|
rs1057522302
|
0.00004
|
NM_001271.4(CHD2):c.987A>G (p.Gln329=)
|
rs758605280
|
0.00004
|
NM_001278293.3(ARL6):c.147A>T (p.Pro49=)
|
rs570616502
|
0.00004
|
NM_001278293.3(ARL6):c.33T>A (p.Leu11=)
|
rs753656245
|
0.00004
|
NM_001278293.3(ARL6):c.536-4T>C
|
rs201939836
|
0.00004
|
NM_001352514.2(HLCS):c.1621-9A>G
|
rs374646852
|
0.00004
|
NM_001352514.2(HLCS):c.1961-7G>C
|
rs145472697
|
0.00004
|
NM_001352514.2(HLCS):c.494-9A>G
|
rs376397597
|
0.00004
|
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
|
rs200950813
|
0.00004
|
NM_001352514.2(HLCS):c.709G>A (p.Asp237Asn)
|
rs780948465
|
0.00004
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
NM_001370658.1(BTD):c.-46T>C
|
rs374044613
|
0.00004
|
NM_001370658.1(BTD):c.1014T>C (p.His338=)
|
rs371365798
|
0.00004
|
NM_001370658.1(BTD):c.123C>T (p.Ala41=)
|
rs747945967
|
0.00004
|
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)
|
rs774052068
|
0.00004
|
NM_001482.3(GATM):c.156T>A (p.Ala52=)
|
rs185569234
|
0.00004
|
NM_001482.3(GATM):c.485-18A>G
|
rs770332433
|
0.00004
|
NM_001482.3(GATM):c.57C>T (p.Tyr19=)
|
rs1052590218
|
0.00004
|
NM_001482.3(GATM):c.624C>G (p.Ala208=)
|
rs149853417
|
0.00004
|
NM_001482.3(GATM):c.979-19G>T
|
rs575171738
|
0.00004
|
NM_001609.4(ACADSB):c.510+13G>C
|
rs773089971
|
0.00004
|
NM_001698.3(AUH):c.117G>C (p.Ser39=)
|
rs759828827
|
0.00004
|
NM_001698.3(AUH):c.330+9A>G
|
rs145402420
|
0.00004
|
NM_001698.3(AUH):c.844-20T>C
|
rs769924401
|
0.00004
|
NM_001739.2(CA5A):c.619-7C>T
|
rs558522180
|
0.00004
|
NM_001739.2(CA5A):c.753C>T (p.Pro251=)
|
rs748576210
|
0.00004
|
NM_001875.5(CPS1):c.1131C>T (p.His377=)
|
rs372421311
|
0.00004
|
NM_001875.5(CPS1):c.1359+19T>C
|
rs759580115
|
0.00004
|
NM_001875.5(CPS1):c.1764C>T (p.Ser588=)
|
rs374071271
|
0.00004
|
NM_001875.5(CPS1):c.1929T>C (p.Asn643=)
|
rs367848165
|
0.00004
|
NM_001875.5(CPS1):c.2019C>T (p.Ser673=)
|
rs374595822
|
0.00004
|
NM_001875.5(CPS1):c.236+15T>C
|
rs538300887
|
0.00004
|
NM_001875.5(CPS1):c.2427C>T (p.Phe809=)
|
rs747718128
|
0.00004
|
NM_001875.5(CPS1):c.2568+9T>C
|
rs752578602
|
0.00004
|
NM_001875.5(CPS1):c.2687+9G>T
|
rs377094467
|
0.00004
|
NM_001875.5(CPS1):c.3414T>G (p.Ala1138=)
|
rs761875285
|
0.00004
|
NM_001875.5(CPS1):c.3667-20G>A
|
rs369845787
|
0.00004
|
NM_001875.5(CPS1):c.3756+14A>G
|
rs771430083
|
0.00004
|
NM_001875.5(CPS1):c.3757-10A>C
|
rs201251176
|
0.00004
|
NM_001875.5(CPS1):c.378C>T (p.Ile126=)
|
rs780425393
|
0.00004
|
NM_001875.5(CPS1):c.4101+8G>A
|
rs754780089
|
0.00004
|
NM_001875.5(CPS1):c.472-5T>G
|
rs747103515
|
0.00004
|
NM_001875.5(CPS1):c.712-11C>T
|
rs561995236
|
0.00004
|
NM_001875.5(CPS1):c.771T>C (p.Asp257=)
|
rs373865114
|
0.00004
|
NM_001875.5(CPS1):c.785C>T (p.Ala262Val)
|
rs372217508
|
0.00004
|
NM_001875.5(CPS1):c.819A>G (p.Pro273=)
|
rs140890568
|
0.00004
|
NM_001876.4(CPT1A):c.1302G>A (p.Thr434=)
|
rs1424284180
|
0.00004
|
NM_001876.4(CPT1A):c.1353-4G>A
|
rs577271875
|
0.00004
|
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser)
|
rs552007692
|
0.00004
|
NM_001876.4(CPT1A):c.1576-11T>G
|
rs778920950
|
0.00004
|
NM_001876.4(CPT1A):c.1644C>T (p.Ser548=)
|
rs775058970
|
0.00004
|
NM_001876.4(CPT1A):c.2115C>T (p.Tyr705=)
|
rs149454771
|
0.00004
|
NM_001876.4(CPT1A):c.466A>G (p.Ile156Val)
|
rs201398937
|
0.00004
|
NM_001876.4(CPT1A):c.753C>T (p.Asn251=)
|
rs765615450
|
0.00004
|
NM_001876.4(CPT1A):c.772-10C>T
|
rs368790901
|
0.00004
|
NM_001876.4(CPT1A):c.772-8C>T
|
rs376651947
|
0.00004
|
NM_001918.5(DBT):c.1051G>C (p.Glu351Gln)
|
rs142160613
|
0.00004
|
NM_001918.5(DBT):c.1143C>G (p.Gly381=)
|
rs1052326198
|
0.00004
|
NM_001918.5(DBT):c.27C>G (p.Thr9=)
|
rs371418997
|
0.00004
|
NM_001918.5(DBT):c.536G>A (p.Arg179His)
|
rs766629953
|
0.00004
|
NM_001918.5(DBT):c.562C>T (p.Leu188=)
|
rs370323452
|
0.00004
|
NM_001918.5(DBT):c.773-17A>C
|
rs144978854
|
0.00004
|
NM_001918.5(DBT):c.978C>T (p.Asn326=)
|
rs140659494
|
0.00004
|
NM_001958.5(EEF1A2):c.113C>T (p.Thr38Ile)
|
rs781157708
|
0.00004
|
NM_001958.5(EEF1A2):c.117T>C (p.Ile39=)
|
rs754859581
|
0.00004
|
NM_001958.5(EEF1A2):c.1218G>A (p.Pro406=)
|
rs377632570
|
0.00004
|
NM_001958.5(EEF1A2):c.1233T>C (p.Cys411=)
|
rs374077620
|
0.00004
|
NM_001958.5(EEF1A2):c.1380G>A (p.Lys460=)
|
rs1295987421
|
0.00004
|
NM_001958.5(EEF1A2):c.324+20C>T
|
rs199746748
|
0.00004
|
NM_001958.5(EEF1A2):c.354G>A (p.Ala118=)
|
rs143957818
|
0.00004
|
NM_001958.5(EEF1A2):c.399G>A (p.Thr133=)
|
rs146240185
|
0.00004
|
NM_001958.5(EEF1A2):c.513C>A (p.Val171=)
|
rs201149992
|
0.00004
|
NM_001958.5(EEF1A2):c.747G>A (p.Pro249=)
|
rs879640448
|
0.00004
|
NM_001958.5(EEF1A2):c.771C>T (p.Gly257=)
|
rs1047396966
|
0.00004
|
NM_001985.3(ETFB):c.705C>T (p.Ala235=)
|
rs760012472
|
0.00004
|
NM_002150.3(HPD):c.199-16T>C
|
rs200721174
|
0.00004
|
NM_002150.3(HPD):c.531T>C (p.Ser177=)
|
rs113922752
|
0.00004
|
NM_002150.3(HPD):c.882G>A (p.Thr294=)
|
rs200038783
|
0.00004
|
NM_002150.3(HPD):c.915G>A (p.Thr305=)
|
rs751753975
|
0.00004
|
NM_002150.3(HPD):c.966C>A (p.Ile322=)
|
rs908075187
|
0.00004
|
NM_002225.5(IVD):c.1005G>A (p.Ala335=)
|
rs570369496
|
0.00004
|
NM_002225.5(IVD):c.1041C>T (p.Cys347=)
|
rs371770434
|
0.00004
|
NM_002225.5(IVD):c.784+20G>A
|
rs375795386
|
0.00004
|
NM_002454.3(MTRR):c.1095T>C (p.Ser365=)
|
rs1490381537
|
0.00004
|
NM_002454.3(MTRR):c.1147-16G>A
|
rs143842562
|
0.00004
|
NM_002454.3(MTRR):c.1362G>A (p.Ser454=)
|
rs370978510
|
0.00004
|
NM_002454.3(MTRR):c.1557+18T>C
|
rs367589908
|
0.00004
|
NM_002454.3(MTRR):c.1677-8C>T
|
rs750976454
|
0.00004
|
NM_002454.3(MTRR):c.1677-9T>C
|
rs200734299
|
0.00004
|
NM_002454.3(MTRR):c.1944T>C (p.Tyr648=)
|
rs143418731
|
0.00004
|
NM_002454.3(MTRR):c.2073C>T (p.Arg691=)
|
rs768387137
|
0.00004
|
NM_002454.3(MTRR):c.27T>C (p.Ala9=)
|
rs114748706
|
0.00004
|
NM_002454.3(MTRR):c.283+13C>G
|
rs368391537
|
0.00004
|
NM_002454.3(MTRR):c.402-19G>A
|
rs192942300
|
0.00004
|
NM_002454.3(MTRR):c.507G>C (p.Val169=)
|
rs367609729
|
0.00004
|
NM_002860.4(ALDH18A1):c.1014C>T (p.His338=)
|
rs150056435
|
0.00004
|
NM_002860.4(ALDH18A1):c.1078+17A>G
|
rs745857450
|
0.00004
|
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=)
|
rs369979669
|
0.00004
|
NM_002860.4(ALDH18A1):c.1485C>T (p.Ile495=)
|
rs777125038
|
0.00004
|
NM_002860.4(ALDH18A1):c.2206+17T>C
|
rs200513474
|
0.00004
|
NM_002860.4(ALDH18A1):c.240C>T (p.Ala80=)
|
rs1016828034
|
0.00004
|
NM_002860.4(ALDH18A1):c.27G>C (p.Gly9=)
|
rs368431558
|
0.00004
|
NM_002860.4(ALDH18A1):c.357C>T (p.Ala119=)
|
rs767594147
|
0.00004
|
NM_002860.4(ALDH18A1):c.429G>A (p.Ser143=)
|
rs745705105
|
0.00004
|
NM_003042.4(SLC6A1):c.1317C>T (p.Ile439=)
|
rs918740589
|
0.00004
|
NM_003042.4(SLC6A1):c.1425C>T (p.Tyr475=)
|
rs201643896
|
0.00004
|
NM_003042.4(SLC6A1):c.1527+16G>A
|
rs189002557
|
0.00004
|
NM_003042.4(SLC6A1):c.1528-18C>T
|
rs754211094
|
0.00004
|
NM_003042.4(SLC6A1):c.1696-4A>G
|
rs773416770
|
0.00004
|
NM_003042.4(SLC6A1):c.318G>A (p.Gln106=)
|
rs370359077
|
0.00004
|
NM_003042.4(SLC6A1):c.384G>A (p.Ala128=)
|
rs2272404
|
0.00004
|
NM_003042.4(SLC6A1):c.45C>T (p.Thr15=)
|
rs761463345
|
0.00004
|
NM_003042.4(SLC6A1):c.492C>T (p.Cys164=)
|
rs151263329
|
0.00004
|
NM_003042.4(SLC6A1):c.582-7T>G
|
rs201191000
|
0.00004
|
NM_003042.4(SLC6A1):c.850-4A>G
|
rs780311335
|
0.00004
|
NM_003042.4(SLC6A1):c.888C>T (p.Tyr296=)
|
rs144034291
|
0.00004
|
NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=)
|
rs758572818
|
0.00004
|
NM_003060.4(SLC22A5):c.1053-10T>C
|
rs377069432
|
0.00004
|
NM_003060.4(SLC22A5):c.1086G>A (p.Ser362=)
|
rs764371993
|
0.00004
|
NM_003060.4(SLC22A5):c.1101C>T (p.Asn367=)
|
rs1012487647
|
0.00004
|
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=)
|
rs200637508
|
0.00004
|
NM_003060.4(SLC22A5):c.1140G>A (p.Ala380=)
|
rs375679167
|
0.00004
|
NM_003060.4(SLC22A5):c.1296G>C (p.Val432=)
|
rs755533900
|
0.00004
|
NM_003060.4(SLC22A5):c.1450+18A>G
|
rs11568516
|
0.00004
|
NM_003060.4(SLC22A5):c.1587-15T>A
|
rs762259659
|
0.00004
|
NM_003060.4(SLC22A5):c.246C>T (p.Arg82=)
|
rs377767448
|
0.00004
|
NM_003060.4(SLC22A5):c.591C>T (p.Val197=)
|
rs113656768
|
0.00004
|
NM_003748.4(ALDH4A1):c.454-18C>T
|
rs557911088
|
0.00004
|
NM_003748.4(ALDH4A1):c.462C>T (p.Thr154=)
|
rs372535998
|
0.00004
|
NM_003982.4(SLC7A7):c.1362G>C (p.Leu454=)
|
rs143853134
|
0.00004
|
NM_003982.4(SLC7A7):c.591G>T (p.Ala197=)
|
rs750720946
|
0.00004
|
NM_004408.4(DNM1):c.1422+9C>T
|
rs760832551
|
0.00004
|
NM_004408.4(DNM1):c.1493+16G>C
|
rs746358072
|
0.00004
|
NM_004408.4(DNM1):c.2238C>T (p.Asn746=)
|
rs1057521629
|
0.00004
|
NM_004408.4(DNM1):c.2535-20G>C
|
rs753705712
|
0.00004
|
NM_004408.4(DNM1):c.386-19C>G
|
rs772469890
|
0.00004
|
NM_004408.4(DNM1):c.589+10C>T
|
rs987855255
|
0.00004
|
NM_004408.4(DNM1):c.589+15G>A
|
rs535456711
|
0.00004
|
NM_004408.4(DNM1):c.850-18C>T
|
rs763158060
|
0.00004
|
NM_004408.4(DNM1):c.850-8A>G
|
rs750891102
|
0.00004
|
NM_004453.4(ETFDH):c.1659T>C (p.Tyr553=)
|
rs1333454413
|
0.00004
|
NM_004453.4(ETFDH):c.285A>G (p.Glu95=)
|
rs201268972
|
0.00004
|
NM_004453.4(ETFDH):c.488-12A>C
|
rs180889150
|
0.00004
|
NM_004483.5(GCSH):c.228+8A>C
|
rs375928222
|
0.00004
|
NM_004483.5(GCSH):c.425-18G>A
|
rs200332491
|
0.00004
|
NM_004577.4(PSPH):c.447G>A (p.Thr149=)
|
rs143341199
|
0.00004
|
NM_004937.3(CTNS):c.1035C>T (p.Phe345=)
|
rs149007536
|
0.00004
|
NM_004937.3(CTNS):c.1038C>T (p.Asp346=)
|
rs771450572
|
0.00004
|
NM_004937.3(CTNS):c.1083G>A (p.Pro361=)
|
rs371189196
|
0.00004
|
NM_004937.3(CTNS):c.510C>T (p.Phe170=)
|
rs747488464
|
0.00004
|
NM_004937.3(CTNS):c.562-16C>T
|
rs776712980
|
0.00004
|
NM_004937.3(CTNS):c.66A>C (p.Ser22=)
|
rs748125070
|
0.00004
|
NM_004937.3(CTNS):c.682-9C>T
|
rs943621505
|
0.00004
|
NM_004937.3(CTNS):c.69C>T (p.Ser23=)
|
rs142642362
|
0.00004
|
NM_004937.3(CTNS):c.730G>A (p.Ala244Thr)
|
rs559490847
|
0.00004
|
NM_004937.3(CTNS):c.852+8C>T
|
rs780856527
|
0.00004
|
NM_004937.3(CTNS):c.853-5C>T
|
rs979289719
|
0.00004
|
NM_004937.3(CTNS):c.921C>T (p.Thr307=)
|
rs117654723
|
0.00004
|
NM_004974.4(KCNA2):c.1050G>A (p.Glu350=)
|
rs771963870
|
0.00004
|
NM_004974.4(KCNA2):c.1061G>A (p.Arg354Gln)
|
rs374827915
|
0.00004
|
NM_004974.4(KCNA2):c.1179A>G (p.Leu393=)
|
rs549281059
|
0.00004
|
NM_004974.4(KCNA2):c.168G>A (p.Glu56=)
|
rs768793748
|
0.00004
|
NM_004974.4(KCNA2):c.318A>G (p.Leu106=)
|
rs763135225
|
0.00004
|
NM_004974.4(KCNA2):c.840C>T (p.Asp280=)
|
rs571429123
|
0.00004
|
NM_004975.4(KCNB1):c.1336G>A (p.Val446Ile)
|
rs776968332
|
0.00004
|
NM_004975.4(KCNB1):c.1388T>C (p.Ile463Thr)
|
rs145421532
|
0.00004
|
NM_004975.4(KCNB1):c.1622C>A (p.Ser541Tyr)
|
rs374460751
|
0.00004
|
NM_004975.4(KCNB1):c.1879C>T (p.Arg627Trp)
|
rs554351105
|
0.00004
|
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp)
|
rs779379680
|
0.00004
|
NM_004975.4(KCNB1):c.2093G>A (p.Arg698Gln)
|
rs1449919002
|
0.00004
|
NM_004975.4(KCNB1):c.210C>G (p.Leu70=)
|
rs1460995367
|
0.00004
|
NM_004975.4(KCNB1):c.2376G>A (p.Ser792=)
|
rs750105922
|
0.00004
|
NM_004975.4(KCNB1):c.2456C>T (p.Ala819Val)
|
rs777645076
|
0.00004
|
NM_004975.4(KCNB1):c.2561G>A (p.Arg854Gln)
|
rs764648709
|
0.00004
|
NM_004975.4(KCNB1):c.568-5C>T
|
rs185995580
|
0.00004
|
NM_004975.4(KCNB1):c.651C>T (p.Leu217=)
|
rs537777787
|
0.00004
|
NM_004975.4(KCNB1):c.840C>T (p.Thr280=)
|
rs748523037
|
0.00004
|
NM_005050.4(ABCD4):c.1327+8C>T
|
rs199678602
|
0.00004
|
NM_005050.4(ABCD4):c.1752+7G>A
|
rs376322555
|
0.00004
|
NM_005050.4(ABCD4):c.699G>A (p.Ala233=)
|
rs139683556
|
0.00004
|
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met)
|
rs181943870
|
0.00004
|
NM_005271.5(GLUD1):c.48C>G (p.Pro16=)
|
rs1313982001
|
0.00004
|
NM_005327.7(HADH):c.324C>T (p.Ser108=)
|
rs373153417
|
0.00004
|
NM_005327.7(HADH):c.384C>T (p.Asn128=)
|
rs369550874
|
0.00004
|
NM_005327.7(HADH):c.710-14C>T
|
rs185267497
|
0.00004
|
NM_005327.7(HADH):c.795C>T (p.Val265=)
|
rs143416676
|
0.00004
|
NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=)
|
rs782250826
|
0.00004
|
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=)
|
rs782820533
|
0.00004
|
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg)
|
rs782407440
|
0.00004
|
NM_005334.3(HCFC1):c.4806C>T (p.Leu1602=)
|
rs923295564
|
0.00004
|
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=)
|
rs1422949741
|
0.00004
|
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)
|
rs1342469676
|
0.00004
|
NM_005334.3(HCFC1):c.984C>T (p.Val328=)
|
rs782409511
|
0.00004
|
NM_005518.4(HMGCS2):c.1161C>T (p.Tyr387=)
|
rs756169207
|
0.00004
|
NM_005518.4(HMGCS2):c.501C>T (p.Tyr167=)
|
rs758839673
|
0.00004
|
NM_005629.4(SLC6A8):c.1146G>A (p.Pro382=)
|
rs782627741
|
0.00004
|
NM_005629.4(SLC6A8):c.1245C>T (p.Leu415=)
|
rs782030501
|
0.00004
|
NM_005629.4(SLC6A8):c.1714G>A (p.Val572Met)
|
rs2872524
|
0.00004
|
NM_005629.4(SLC6A8):c.283G>A (p.Val95Ile)
|
rs782040427
|
0.00004
|
NM_005629.4(SLC6A8):c.927G>A (p.Ala309=)
|
rs781807737
|
0.00004
|
NM_005881.4(BCKDK):c.262C>T (p.Leu88=)
|
rs141938310
|
0.00004
|
NM_005957.5(MTHFR):c.1065C>A (p.Pro355=)
|
rs1156478570
|
0.00004
|
NM_005957.5(MTHFR):c.1134C>T (p.Thr378=)
|
rs767306503
|
0.00004
|
NM_005957.5(MTHFR):c.1722A>T (p.Val574=)
|
rs936532190
|
0.00004
|
NM_005957.5(MTHFR):c.336C>T (p.Ile112=)
|
rs777803896
|
0.00004
|
NM_005957.5(MTHFR):c.681G>A (p.Thr227=)
|
rs774825800
|
0.00004
|
NM_005957.5(MTHFR):c.90G>A (p.Ser30=)
|
rs765167328
|
0.00004
|
NM_006623.4(PHGDH):c.1128C>T (p.Val376=)
|
rs199677303
|
0.00004
|
NM_006623.4(PHGDH):c.1176C>T (p.Asn392=)
|
rs764196357
|
0.00004
|
NM_006623.4(PHGDH):c.1254C>T (p.Phe418=)
|
rs763258512
|
0.00004
|
NM_006623.4(PHGDH):c.1575G>T (p.Val525=)
|
rs587681898
|
0.00004
|
NM_006623.4(PHGDH):c.412-6T>C
|
rs762278325
|
0.00004
|
NM_006859.4(LIAS):c.1066+20A>G
|
rs748825373
|
0.00004
|
NM_006859.4(LIAS):c.114C>G (p.Leu38=)
|
rs750439302
|
0.00004
|
NM_006859.4(LIAS):c.27C>A (p.Ala9=)
|
rs553110956
|
0.00004
|
NM_006859.4(LIAS):c.737+9G>A
|
rs750744754
|
0.00004
|
NM_012213.3(MLYCD):c.12C>T (p.Phe4=)
|
rs1027854085
|
0.00004
|
NM_012213.3(MLYCD):c.1350G>A (p.Leu450=)
|
rs752170020
|
0.00004
|
NM_012213.3(MLYCD):c.933C>T (p.Val311=)
|
rs757687650
|
0.00004
|
NM_012213.3(MLYCD):c.948+10A>G
|
rs372958512
|
0.00004
|
NM_014251.3(SLC25A13):c.1638G>A (p.Thr546=)
|
rs143706021
|
0.00004
|
NM_014251.3(SLC25A13):c.1722A>G (p.Gly574=)
|
rs760315798
|
0.00004
|
NM_014251.3(SLC25A13):c.1770A>T (p.Ser590=)
|
rs769993871
|
0.00004
|
NM_014251.3(SLC25A13):c.615+8G>A
|
rs557575818
|
0.00004
|
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=)
|
rs536354947
|
0.00004
|
NM_014252.4(SLC25A15):c.576A>G (p.Glu192=)
|
rs774514708
|
0.00004
|
NM_014252.4(SLC25A15):c.782-18C>T
|
rs183166413
|
0.00004
|
NM_014362.4(HIBCH):c.550T>C (p.Leu184=)
|
rs777785491
|
0.00004
|
NM_014384.3(ACAD8):c.615C>T (p.Cys205=)
|
rs200275294
|
0.00004
|
NM_015506.3(MMACHC):c.402T>C (p.Asp134=)
|
rs774024065
|
0.00004
|
NM_015506.3(MMACHC):c.423G>C (p.Gly141=)
|
rs1035201847
|
0.00004
|
NM_015506.3(MMACHC):c.42C>T (p.Asp14=)
|
rs141562335
|
0.00004
|
NM_015506.3(MMACHC):c.700T>C (p.Leu234=)
|
rs199964843
|
0.00004
|
NM_015509.4(NECAP1):c.95+9C>T
|
rs199764142
|
0.00004
|
NM_015662.3(IFT172):c.1326-17C>T
|
rs969211942
|
0.00004
|
NM_015662.3(IFT172):c.1524+7A>G
|
rs149896944
|
0.00004
|
NM_015662.3(IFT172):c.1791C>T (p.Ile597=)
|
rs747273253
|
0.00004
|
NM_015662.3(IFT172):c.184-6T>A
|
rs371658303
|
0.00004
|
NM_015662.3(IFT172):c.1964C>T (p.Ala655Val)
|
rs370407165
|
0.00004
|
NM_015662.3(IFT172):c.2787+10A>G
|
rs199842476
|
0.00004
|
NM_015662.3(IFT172):c.318C>T (p.Cys106=)
|
rs772983278
|
0.00004
|
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)
|
rs76076247
|
0.00004
|
NM_015662.3(IFT172):c.3549T>C (p.Asp1183=)
|
rs566100277
|
0.00004
|
NM_015662.3(IFT172):c.4407C>T (p.His1469=)
|
rs761583320
|
0.00004
|
NM_015662.3(IFT172):c.4755+11del
|
rs775669156
|
0.00004
|
NM_015662.3(IFT172):c.4816-6C>T
|
rs367782557
|
0.00004
|
NM_015662.3(IFT172):c.571-10T>C
|
rs753921843
|
0.00004
|
NM_015662.3(IFT172):c.861C>T (p.Tyr287=)
|
rs148906663
|
0.00004
|
NM_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
0.00004
|
NM_016335.6(PRODH):c.518-11C>T
|
rs112526442
|
0.00004
|
NM_016579.4(CD320):c.333C>T (p.Thr111=)
|
rs540057476
|
0.00004
|
NM_016579.4(CD320):c.657C>T (p.Ala219=)
|
rs368089898
|
0.00004
|
NM_018368.4(LMBRD1):c.1206A>G (p.Arg402=)
|
rs779802824
|
0.00004
|
NM_018368.4(LMBRD1):c.1389A>G (p.Pro463=)
|
rs751525924
|
0.00004
|
NM_018368.4(LMBRD1):c.297C>T (p.Tyr99=)
|
rs139154326
|
0.00004
|
NM_018368.4(LMBRD1):c.562+19A>T
|
rs200488577
|
0.00004
|
NM_018368.4(LMBRD1):c.918C>T (p.Ile306=)
|
rs766287809
|
0.00004
|
NM_018706.7(DHTKD1):c.1551G>A (p.Ala517=)
|
rs112910106
|
0.00004
|
NM_018706.7(DHTKD1):c.1650C>T (p.His550=)
|
rs375209596
|
0.00004
|
NM_018706.7(DHTKD1):c.2154+11C>T
|
rs771483975
|
0.00004
|
NM_018706.7(DHTKD1):c.2251A>C (p.Arg751=)
|
rs781551352
|
0.00004
|
NM_018706.7(DHTKD1):c.576C>T (p.Gly192=)
|
rs543081107
|
0.00004
|
NM_018706.7(DHTKD1):c.627G>A (p.Ser209=)
|
rs745332525
|
0.00004
|
NM_018706.7(DHTKD1):c.636C>T (p.Ser212=)
|
rs772308172
|
0.00004
|
NM_018706.7(DHTKD1):c.876C>T (p.Ala292=)
|
rs556079764
|
0.00004
|
NM_020166.5(MCCC1):c.1233C>T (p.Asp411=)
|
rs140579569
|
0.00004
|
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=)
|
rs373049854
|
0.00004
|
NM_020166.5(MCCC1):c.136+7A>G
|
rs559629034
|
0.00004
|
NM_020166.5(MCCC1):c.165A>G (p.Ala55=)
|
rs373199843
|
0.00004
|
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=)
|
rs377320336
|
0.00004
|
NM_020166.5(MCCC1):c.66C>T (p.Leu22=)
|
rs750778690
|
0.00004
|
NM_020686.6(ABAT):c.1254A>T (p.Gly418=)
|
rs140640183
|
0.00004
|
NM_020686.6(ABAT):c.510C>T (p.Asn170=)
|
rs141981377
|
0.00004
|
NM_020686.6(ABAT):c.555G>A (p.Gly185=)
|
rs147765799
|
0.00004
|
NM_020686.6(ABAT):c.667+18C>T
|
rs756875305
|
0.00004
|
NM_020686.6(ABAT):c.801C>T (p.Ala267=)
|
rs377220277
|
0.00004
|
NM_020686.6(ABAT):c.817-15C>A
|
rs761188607
|
0.00004
|
NM_020686.6(ABAT):c.963C>T (p.Cys321=)
|
rs375537349
|
0.00004
|
NM_022132.5(MCCC2):c.1560C>T (p.Tyr520=)
|
rs765801018
|
0.00004
|
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
|
rs768354167
|
0.00004
|
NM_022132.5(MCCC2):c.999+16A>G
|
rs1241526106
|
0.00004
|
NM_025136.4(OPA3):c.303C>T (p.Tyr101=)
|
rs752010426
|
0.00004
|
NM_032601.4(MCEE):c.304T>C (p.Leu102=)
|
rs767011431
|
0.00004
|
NM_032861.4(SERAC1):c.355+10C>T
|
rs760497677
|
0.00004
|
NM_032861.4(SERAC1):c.660A>G (p.Gln220=)
|
rs776026202
|
0.00004
|
NM_032861.4(SERAC1):c.92-16T>C
|
rs201656768
|
0.00004
|
NM_032861.4(SERAC1):c.999T>C (p.Ser333=)
|
rs746668292
|
0.00004
|
NM_052845.4(MMAB):c.168C>G (p.Pro56=)
|
rs752857938
|
0.00004
|
NM_052845.4(MMAB):c.348+17C>T
|
rs202141416
|
0.00004
|
NM_052845.4(MMAB):c.349-9G>A
|
rs372577644
|
0.00004
|
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
|
rs756766385
|
0.00004
|
NM_052845.4(MMAB):c.471C>T (p.Ile157=)
|
rs369581051
|
0.00004
|
NM_052845.4(MMAB):c.52C>A (p.Leu18Met)
|
rs374802787
|
0.00004
|
NM_054012.4(ASS1):c.105+10C>T
|
rs1010509460
|
0.00004
|
NM_054012.4(ASS1):c.1059C>T (p.Val353=)
|
rs759769412
|
0.00004
|
NM_054012.4(ASS1):c.348C>T (p.His116=)
|
rs770688393
|
0.00004
|
NM_054012.4(ASS1):c.421-8A>C
|
rs764424984
|
0.00004
|
NM_054012.4(ASS1):c.564C>T (p.Ile188=)
|
rs2297599
|
0.00004
|
NM_054012.4(ASS1):c.566+11C>T
|
rs200527708
|
0.00004
|
NM_054012.4(ASS1):c.90C>T (p.Asp30=)
|
rs371519061
|
0.00004
|
NM_058179.4(PSAT1):c.122-9C>G
|
rs1238498437
|
0.00004
|
NM_058179.4(PSAT1):c.231A>T (p.Gly77=)
|
rs762436279
|
0.00004
|
NM_058179.4(PSAT1):c.291G>A (p.Arg97=)
|
rs113759812
|
0.00004
|
NM_058179.4(PSAT1):c.792C>T (p.Ala264=)
|
rs371935677
|
0.00004
|
NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)
|
rs141007488
|
0.00004
|
NM_152419.3(HGSNAT):c.118+17T>C
|
rs912987473
|
0.00004
|
NM_152419.3(HGSNAT):c.1347C>T (p.Asp449=)
|
rs752420375
|
0.00004
|
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)
|
rs772611068
|
0.00004
|
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser)
|
rs368452647
|
0.00004
|
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=)
|
rs752466254
|
0.00004
|
NM_152419.3(HGSNAT):c.840C>T (p.Leu280=)
|
rs1000820440
|
0.00004
|
NM_152419.3(HGSNAT):c.87G>C (p.Ser29=)
|
rs1461385635
|
0.00004
|
NM_152542.5(PPM1K):c.987+9G>C
|
rs374460251
|
0.00004
|
NM_153006.3(NAGS):c.1152C>T (p.Asp384=)
|
rs773966217
|
0.00004
|
NM_153006.3(NAGS):c.1392G>A (p.Leu464=)
|
rs758356127
|
0.00004
|
NM_153006.3(NAGS):c.291G>A (p.Ser97=)
|
rs769434080
|
0.00004
|
NM_153006.3(NAGS):c.429G>A (p.Val143=)
|
rs199976538
|
0.00004
|
NM_153006.3(NAGS):c.534G>A (p.Pro178=)
|
rs539061299
|
0.00004
|
NM_153006.3(NAGS):c.573G>A (p.Glu191=)
|
rs748018121
|
0.00004
|
NM_153006.3(NAGS):c.622C>A (p.Arg208=)
|
rs762205848
|
0.00004
|
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr)
|
rs186127828
|
0.00004
|
NM_172250.3(MMAA):c.378A>G (p.Val126=)
|
rs750237065
|
0.00004
|
NM_172250.3(MMAA):c.440-4G>A
|
rs780768376
|
0.00004
|
NM_172250.3(MMAA):c.562+11C>T
|
rs746737805
|
0.00004
|
NM_177550.5(SLC13A5):c.1156+20C>T
|
rs368150158
|
0.00004
|
NM_177550.5(SLC13A5):c.1437+18G>A
|
rs371350083
|
0.00004
|
NM_177550.5(SLC13A5):c.1560C>A (p.Leu520=)
|
rs771239934
|
0.00004
|
NM_177550.5(SLC13A5):c.1584A>G (p.Thr528=)
|
rs764993670
|
0.00004
|
NM_177550.5(SLC13A5):c.18C>T (p.Ser6=)
|
rs775174636
|
0.00004
|
NM_177550.5(SLC13A5):c.232-8C>T
|
rs566063560
|
0.00004
|
NM_177550.5(SLC13A5):c.342C>T (p.Leu114=)
|
rs774031315
|
0.00004
|
NM_177550.5(SLC13A5):c.489C>T (p.Ser163=)
|
rs372231184
|
0.00004
|
NM_177550.5(SLC13A5):c.864G>A (p.Gly288=)
|
rs910523768
|
0.00004
|
NM_177550.5(SLC13A5):c.945G>A (p.Ala315=)
|
rs1057522909
|
0.00004
|
NM_183050.4(BCKDHB):c.111C>T (p.His37=)
|
rs755592273
|
0.00004
|
NM_183050.4(BCKDHB):c.681A>C (p.Ser227=)
|
rs755637620
|
0.00004
|
NM_183050.4(BCKDHB):c.840+15T>C
|
rs764829376
|
0.00004
|
NM_201253.3(CRB1):c.1014C>A (p.Ile338=)
|
rs771549675
|
0.00004
|
NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu)
|
rs148551147
|
0.00004
|
NM_201253.3(CRB1):c.1089T>C (p.Tyr363=)
|
rs376105354
|
0.00004
|
NM_201253.3(CRB1):c.1728G>A (p.Glu576=)
|
rs529612010
|
0.00004
|
NM_201253.3(CRB1):c.2235G>A (p.Thr745=)
|
rs753107217
|
0.00004
|
NM_201253.3(CRB1):c.2403G>A (p.Lys801=)
|
rs568010290
|
0.00004
|
NM_201253.3(CRB1):c.2419C>T (p.Leu807=)
|
rs371089348
|
0.00004
|
NM_201253.3(CRB1):c.2463G>A (p.Thr821=)
|
rs375269970
|
0.00004
|
NM_201253.3(CRB1):c.3603A>T (p.Thr1201=)
|
rs778669324
|
0.00004
|
NM_201253.3(CRB1):c.582C>A (p.Pro194=)
|
rs201148750
|
0.00004
|
NM_201253.3(CRB1):c.678C>T (p.Asp226=)
|
rs753324293
|
0.00004
|
NM_201253.3(CRB1):c.744C>T (p.Cys248=)
|
rs367580749
|
0.00004
|
NM_000016.6(ACADM):c.118+10C>T
|
rs202218503
|
0.00003
|
NM_000016.6(ACADM):c.287-16C>T
|
rs368504798
|
0.00003
|
NM_000016.6(ACADM):c.456G>A (p.Glu152=)
|
rs771055994
|
0.00003
|
NM_000016.6(ACADM):c.657T>C (p.Phe219=)
|
rs758331876
|
0.00003
|
NM_000016.6(ACADM):c.687A>C (p.Pro229=)
|
rs368276871
|
0.00003
|
NM_000016.6(ACADM):c.735A>T (p.Ser245=)
|
rs1451872855
|
0.00003
|
NM_000017.4(ACADS):c.414G>A (p.Ala138=)
|
rs201825471
|
0.00003
|
NM_000017.4(ACADS):c.900C>T (p.Phe300=)
|
rs150980955
|
0.00003
|
NM_000018.4(ACADVL):c.1458G>T (p.Gly486=)
|
rs749425874
|
0.00003
|
NM_000018.4(ACADVL):c.1532+11G>A
|
rs372900326
|
0.00003
|
NM_000018.4(ACADVL):c.1566C>T (p.Ser522=)
|
rs371654348
|
0.00003
|
NM_000018.4(ACADVL):c.1606-6C>T
|
rs764055292
|
0.00003
|
NM_000018.4(ACADVL):c.168C>G (p.Pro56=)
|
rs544122648
|
0.00003
|
NM_000018.4(ACADVL):c.1782C>A (p.Pro594=)
|
rs1373644425
|
0.00003
|
NM_000018.4(ACADVL):c.1785G>A (p.Thr595=)
|
rs774382482
|
0.00003
|
NM_000018.4(ACADVL):c.1828-20C>T
|
rs757145035
|
0.00003
|
NM_000018.4(ACADVL):c.343-14T>C
|
rs200368309
|
0.00003
|
NM_000018.4(ACADVL):c.369C>T (p.Asp123=)
|
rs374524648
|
0.00003
|
NM_000018.4(ACADVL):c.945A>G (p.Val315=)
|
rs761849960
|
0.00003
|
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)
|
rs149171104
|
0.00003
|
NM_000019.4(ACAT1):c.325T>C (p.Leu109=)
|
rs772625970
|
0.00003
|
NM_000026.4(ADSL):c.1422C>T (p.Ser474=)
|
rs748593655
|
0.00003
|
NM_000026.4(ADSL):c.273C>T (p.His91=)
|
rs148303726
|
0.00003
|
NM_000026.4(ADSL):c.763C>T (p.Leu255=)
|
rs771049726
|
0.00003
|
NM_000045.4(ARG1):c.558A>G (p.Glu186=)
|
rs773465984
|
0.00003
|
NM_000045.4(ARG1):c.621A>C (p.Gly207=)
|
rs1028447199
|
0.00003
|
NM_000045.4(ARG1):c.702C>T (p.Asp234=)
|
rs148939143
|
0.00003
|
NM_000048.4(ASL):c.1242G>A (p.Gln414=)
|
rs144716217
|
0.00003
|
NM_000048.4(ASL):c.1389G>A (p.Gln463=)
|
rs149698725
|
0.00003
|
NM_000048.4(ASL):c.291+7C>G
|
rs371162956
|
0.00003
|
NM_000048.4(ASL):c.924C>T (p.Ala308=)
|
rs747831550
|
0.00003
|
NM_000071.3(CBS):c.1040-16G>A
|
rs755940179
|
0.00003
|
NM_000071.3(CBS):c.1040-6C>G
|
rs767372401
|
0.00003
|
NM_000071.3(CBS):c.1083G>A (p.Ala361=)
|
rs781323559
|
0.00003
|
NM_000071.3(CBS):c.1146-4G>A
|
rs778414187
|
0.00003
|
NM_000071.3(CBS):c.1146-7C>T
|
rs376749931
|
0.00003
|
NM_000071.3(CBS):c.1224-14C>T
|
rs756737169
|
0.00003
|
NM_000071.3(CBS):c.1224-5C>T
|
rs370071493
|
0.00003
|
NM_000071.3(CBS):c.1272C>T (p.Thr424=)
|
rs141717913
|
0.00003
|
NM_000071.3(CBS):c.1287C>T (p.Ile429=)
|
rs770442169
|
0.00003
|
NM_000071.3(CBS):c.1326C>G (p.Gly442=)
|
rs750627927
|
0.00003
|
NM_000071.3(CBS):c.1356G>A (p.Ala452=)
|
rs776322450
|
0.00003
|
NM_000071.3(CBS):c.1359-18C>T
|
rs770172764
|
0.00003
|
NM_000071.3(CBS):c.1359-9G>A
|
rs202137317
|
0.00003
|
NM_000071.3(CBS):c.1410C>T (p.Ala470=)
|
rs773019624
|
0.00003
|
NM_000071.3(CBS):c.1464A>G (p.Lys488=)
|
rs771312041
|
0.00003
|
NM_000071.3(CBS):c.147G>A (p.Pro49=)
|
rs771719483
|
0.00003
|
NM_000071.3(CBS):c.1485G>A (p.Thr495=)
|
rs369903148
|
0.00003
|
NM_000071.3(CBS):c.1563C>T (p.Thr521=)
|
rs773052594
|
0.00003
|
NM_000071.3(CBS):c.210-16G>T
|
rs183972299
|
0.00003
|
NM_000071.3(CBS):c.396C>T (p.Arg132=)
|
rs754758476
|
0.00003
|
NM_000071.3(CBS):c.429C>T (p.Ile143=)
|
rs370167302
|
0.00003
|
NM_000071.3(CBS):c.435G>A (p.Pro145=)
|
rs148782895
|
0.00003
|
NM_000071.3(CBS):c.456C>T (p.Ile152=)
|
rs769438280
|
0.00003
|
NM_000071.3(CBS):c.525C>T (p.Ser175=)
|
rs767850964
|
0.00003
|
NM_000071.3(CBS):c.537C>T (p.Asp179=)
|
rs769712423
|
0.00003
|
NM_000071.3(CBS):c.609C>T (p.His203=)
|
rs142313595
|
0.00003
|
NM_000071.3(CBS):c.615G>C (p.Gly205=)
|
rs773114442
|
0.00003
|
NM_000071.3(CBS):c.708C>T (p.Thr236=)
|
rs748495689
|
0.00003
|
NM_000071.3(CBS):c.717G>A (p.Glu239=)
|
rs372797469
|
0.00003
|
NM_000071.3(CBS):c.737-9G>A
|
rs781068454
|
0.00003
|
NM_000071.3(CBS):c.771G>A (p.Thr257=)
|
rs375004389
|
0.00003
|
NM_000071.3(CBS):c.903C>T (p.Tyr301=)
|
rs746575551
|
0.00003
|
NM_000071.3(CBS):c.918C>T (p.Ile306=)
|
rs201950895
|
0.00003
|
NM_000071.3(CBS):c.924C>T (p.Tyr308=)
|
rs149809170
|
0.00003
|
NM_000108.5(DLD):c.105C>T (p.Tyr35=)
|
rs747810875
|
0.00003
|
NM_000108.5(DLD):c.342C>T (p.Ser114=)
|
rs757785953
|
0.00003
|
NM_000108.5(DLD):c.495G>A (p.Thr165=)
|
rs202125454
|
0.00003
|
NM_000108.5(DLD):c.723A>C (p.Ala241=)
|
rs751488296
|
0.00003
|
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=)
|
rs143525004
|
0.00003
|
NM_000116.5(TAFAZZIN):c.371-6C>A
|
rs782195445
|
0.00003
|
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)
|
rs397515743
|
0.00003
|
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=)
|
rs150583937
|
0.00003
|
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
|
rs200909606
|
0.00003
|
NM_000126.4(ETFA):c.351+8G>A
|
rs374723922
|
0.00003
|
NM_000126.4(ETFA):c.720A>G (p.Gln240=)
|
rs756864231
|
0.00003
|
NM_000126.4(ETFA):c.733+16T>G
|
rs755381395
|
0.00003
|
NM_000126.4(ETFA):c.771T>G (p.Val257=)
|
rs138255469
|
0.00003
|
NM_000126.4(ETFA):c.816+8T>A
|
rs759412407
|
0.00003
|
NM_000126.4(ETFA):c.981T>G (p.Thr327=)
|
rs752246889
|
0.00003
|
NM_000137.4(FAH):c.1029G>A (p.Gly343=)
|
rs772334351
|
0.00003
|
NM_000137.4(FAH):c.10A>C (p.Ile4Leu)
|
rs754336457
|
0.00003
|
NM_000137.4(FAH):c.126C>T (p.Asp42=)
|
rs373120801
|
0.00003
|
NM_000137.4(FAH):c.192+18G>A
|
rs772156602
|
0.00003
|
NM_000137.4(FAH):c.843C>G (p.Pro281=)
|
rs755556442
|
0.00003
|
NM_000156.6(GAMT):c.181+20C>G
|
rs747307760
|
0.00003
|
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp)
|
rs552210450
|
0.00003
|
NM_000156.6(GAMT):c.328-19T>C
|
rs879927012
|
0.00003
|
NM_000156.6(GAMT):c.36C>G (p.Pro12=)
|
rs760278546
|
0.00003
|
NM_000156.6(GAMT):c.460-7T>G
|
rs1200384623
|
0.00003
|
NM_000156.6(GAMT):c.600C>T (p.Ala200=)
|
rs200679529
|
0.00003
|
NM_000156.6(GAMT):c.669C>T (p.Tyr223=)
|
rs762954251
|
0.00003
|
NM_000156.6(GAMT):c.9C>T (p.Ala3=)
|
rs1048753323
|
0.00003
|
NM_000159.4(GCDH):c.396G>T (p.Arg132=)
|
rs1160521098
|
0.00003
|
NM_000159.4(GCDH):c.876C>T (p.Asn292=)
|
rs1438245420
|
0.00003
|
NM_000159.4(GCDH):c.891C>T (p.Ile297=)
|
rs143102910
|
0.00003
|
NM_000161.3(GCH1):c.239G>A (p.Ser80Asn)
|
rs770547722
|
0.00003
|
NM_000161.3(GCH1):c.324C>T (p.Gly108=)
|
rs772386583
|
0.00003
|
NM_000161.3(GCH1):c.343+8C>A
|
rs370233441
|
0.00003
|
NM_000161.3(GCH1):c.348C>T (p.Val116=)
|
rs1212537614
|
0.00003
|
NM_000161.3(GCH1):c.454-15G>A
|
rs559391590
|
0.00003
|
NM_000161.3(GCH1):c.509+8T>A
|
rs753570450
|
0.00003
|
NM_000161.3(GCH1):c.542-18T>A
|
rs1362048177
|
0.00003
|
NM_000170.3(GLDC):c.114C>T (p.Ser38=)
|
rs1315587398
|
0.00003
|
NM_000170.3(GLDC):c.1383G>A (p.Arg461=)
|
rs376222727
|
0.00003
|
NM_000170.3(GLDC):c.1428C>T (p.Val476=)
|
rs781701911
|
0.00003
|
NM_000170.3(GLDC):c.1446C>T (p.Asp482=)
|
rs201147701
|
0.00003
|
NM_000170.3(GLDC):c.1453T>C (p.Leu485=)
|
rs760562478
|
0.00003
|
NM_000170.3(GLDC):c.1483-6C>T
|
rs1442788186
|
0.00003
|
NM_000170.3(GLDC):c.1644T>G (p.Leu548=)
|
rs750071045
|
0.00003
|
NM_000170.3(GLDC):c.1695G>A (p.Ser565=)
|
rs762780926
|
0.00003
|
NM_000170.3(GLDC):c.2229C>T (p.Phe743=)
|
rs144317480
|
0.00003
|
NM_000170.3(GLDC):c.2569+9C>G
|
rs1410571088
|
0.00003
|
NM_000170.3(GLDC):c.261T>C (p.Ile87=)
|
rs776700682
|
0.00003
|
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn)
|
rs770826242
|
0.00003
|
NM_000170.3(GLDC):c.2751C>T (p.Asp917=)
|
rs775143096
|
0.00003
|
NM_000170.3(GLDC):c.606A>C (p.Ala202=)
|
rs779661117
|
0.00003
|
NM_000170.3(GLDC):c.726C>A (p.Val242=)
|
rs377750481
|
0.00003
|
NM_000170.3(GLDC):c.84G>T (p.Pro28=)
|
rs1259938806
|
0.00003
|
NM_000170.3(GLDC):c.870C>T (p.Ala290=)
|
rs143159617
|
0.00003
|
NM_000170.3(GLDC):c.873C>T (p.Cys291=)
|
rs893058571
|
0.00003
|
NM_000182.5(HADHA):c.1014C>T (p.Ala338=)
|
rs748021991
|
0.00003
|
NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr)
|
rs534553558
|
0.00003
|
NM_000182.5(HADHA):c.12C>T (p.Cys4=)
|
rs938902936
|
0.00003
|
NM_000182.5(HADHA):c.1479+9G>A
|
rs761058783
|
0.00003
|
NM_000182.5(HADHA):c.1620+9C>G
|
rs772786562
|
0.00003
|
NM_000182.5(HADHA):c.1683C>A (p.Ile561=)
|
rs372266559
|
0.00003
|
NM_000182.5(HADHA):c.1923G>A (p.Glu641=)
|
rs754472544
|
0.00003
|
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe)
|
rs765213828
|
0.00003
|
NM_000182.5(HADHA):c.777G>A (p.Lys259=)
|
rs142071869
|
0.00003
|
NM_000182.5(HADHA):c.828A>G (p.Pro276=)
|
rs765819381
|
0.00003
|
NM_000182.5(HADHA):c.954C>T (p.Ala318=)
|
rs755595692
|
0.00003
|
NM_000187.4(HGD):c.477G>A (p.Gln159=)
|
rs1351109217
|
0.00003
|
NM_000187.4(HGD):c.765T>C (p.Ala255=)
|
rs747764475
|
0.00003
|
NM_000191.3(HMGCL):c.453C>T (p.Asp151=)
|
rs148943423
|
0.00003
|
NM_000191.3(HMGCL):c.60+18C>T
|
rs1012054316
|
0.00003
|
NM_000191.3(HMGCL):c.6A>G (p.Ala2=)
|
rs375969301
|
0.00003
|
NM_000191.3(HMGCL):c.774T>C (p.Ser258=)
|
rs568796561
|
0.00003
|
NM_000240.4(MAOA):c.956-8T>G
|
rs780408416
|
0.00003
|
NM_000254.3(MTR):c.1275A>G (p.Pro425=)
|
rs202147344
|
0.00003
|
NM_000254.3(MTR):c.2043+18G>C
|
rs763911562
|
0.00003
|
NM_000254.3(MTR):c.2473+14A>G
|
rs193210789
|
0.00003
|
NM_000254.3(MTR):c.2474-19_2474-18insA
|
rs777429098
|
0.00003
|
NM_000254.3(MTR):c.3135C>T (p.His1045=)
|
rs775738419
|
0.00003
|
NM_000254.3(MTR):c.3636T>C (p.Ala1212=)
|
rs767100856
|
0.00003
|
NM_000274.4(OAT):c.1113A>G (p.Val371=)
|
rs370349040
|
0.00003
|
NM_000274.4(OAT):c.1251G>A (p.Pro417=)
|
rs570318690
|
0.00003
|
NM_000274.4(OAT):c.303G>A (p.Leu101=)
|
rs569605240
|
0.00003
|
NM_000274.4(OAT):c.521-7T>G
|
rs576876835
|
0.00003
|
NM_000274.4(OAT):c.649-17T>C
|
rs766418222
|
0.00003
|
NM_000274.4(OAT):c.649-18T>C
|
rs752593582
|
0.00003
|
NM_000276.4(OCRL):c.1416G>A (p.Lys472=)
|
rs367841616
|
0.00003
|
NM_000276.4(OCRL):c.1614G>A (p.Val538=)
|
rs748308192
|
0.00003
|
NM_000276.4(OCRL):c.2427G>A (p.Gln809=)
|
rs145277867
|
0.00003
|
NM_000276.4(OCRL):c.441G>A (p.Gly147=)
|
rs199624352
|
0.00003
|
NM_000277.3(PAH):c.894C>T (p.Ser298=)
|
rs765823928
|
0.00003
|
NM_000281.4(PCBD1):c.228G>A (p.Thr76=)
|
rs778445183
|
0.00003
|
NM_000282.4(PCCA):c.1576T>C (p.Leu526=)
|
rs564315582
|
0.00003
|
NM_000282.4(PCCA):c.1929C>T (p.Ala643=)
|
rs772945583
|
0.00003
|
NM_000282.4(PCCA):c.33G>T (p.Leu11=)
|
rs922002208
|
0.00003
|
NM_000282.4(PCCA):c.414+19A>G
|
rs531469612
|
0.00003
|
NM_000282.4(PCCA):c.415-9A>G
|
rs1057520932
|
0.00003
|
NM_000282.4(PCCA):c.915-18A>T
|
rs780272314
|
0.00003
|
NM_000317.3(PTS):c.312G>A (p.Val104=)
|
rs148185068
|
0.00003
|
NM_000329.3(RPE65):c.1338+8A>G
|
rs777211540
|
0.00003
|
NM_000329.3(RPE65):c.1452T>A (p.Gly484=)
|
rs775602082
|
0.00003
|
NM_000329.3(RPE65):c.1548T>C (p.Ala516=)
|
rs546103655
|
0.00003
|
NM_000329.3(RPE65):c.246-7C>T
|
rs372100362
|
0.00003
|
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)
|
rs200592320
|
0.00003
|
NM_000353.3(TAT):c.1164C>T (p.Asn388=)
|
rs148342760
|
0.00003
|
NM_000353.3(TAT):c.378C>T (p.Tyr126=)
|
rs1169609060
|
0.00003
|
NM_000353.3(TAT):c.426T>C (p.Ser142=)
|
rs754808935
|
0.00003
|
NM_000353.3(TAT):c.760-12G>A
|
rs1218875252
|
0.00003
|
NM_000353.3(TAT):c.942G>A (p.Gln314=)
|
rs1395182099
|
0.00003
|
NM_000360.4(TH):c.1105-4G>A
|
rs772712441
|
0.00003
|
NM_000360.4(TH):c.1254C>T (p.Ala418=)
|
rs374772644
|
0.00003
|
NM_000360.4(TH):c.171C>T (p.Ala57=)
|
rs771152796
|
0.00003
|
NM_000360.4(TH):c.225G>A (p.Glu75=)
|
rs558597025
|
0.00003
|
NM_000360.4(TH):c.286C>T (p.Leu96=)
|
rs74742646
|
0.00003
|
NM_000360.4(TH):c.309T>C (p.Phe103=)
|
rs754746512
|
0.00003
|
NM_000360.4(TH):c.365G>A (p.Arg122Gln)
|
rs201093528
|
0.00003
|
NM_000360.4(TH):c.459G>A (p.Glu153=)
|
rs373986982
|
0.00003
|
NM_000360.4(TH):c.695+14G>A
|
rs369545292
|
0.00003
|
NM_000360.4(TH):c.714G>A (p.Thr238=)
|
rs747783772
|
0.00003
|
NM_000360.4(TH):c.768T>C (p.Ala256=)
|
rs1417486240
|
0.00003
|
NM_000360.4(TH):c.90+29C>T
|
rs761081184
|
0.00003
|
NM_000360.4(TH):c.91-15C>T
|
rs775705010
|
0.00003
|
NM_000360.4(TH):c.984C>T (p.Cys328=)
|
rs371340450
|
0.00003
|
NM_000387.6(SLC25A20):c.719-9G>A
|
rs973098577
|
0.00003
|
NM_000387.6(SLC25A20):c.844-11T>C
|
rs776093253
|
0.00003
|
NM_000481.4(AMT):c.174A>G (p.Pro58=)
|
rs1356238437
|
0.00003
|
NM_000481.4(AMT):c.472-6T>C
|
rs750153849
|
0.00003
|
NM_000481.4(AMT):c.583G>A (p.Val195Met)
|
rs372496075
|
0.00003
|
NM_000481.4(AMT):c.705G>A (p.Val235=)
|
rs1324646911
|
0.00003
|
NM_000531.6(OTC):c.196A>C (p.Arg66=)
|
rs369756595
|
0.00003
|
NM_000531.6(OTC):c.270T>C (p.Ser90=)
|
rs72554342
|
0.00003
|
NM_000531.6(OTC):c.717+8C>T
|
rs769353645
|
0.00003
|
NM_000531.6(OTC):c.963A>G (p.Ser321=)
|
rs1387377929
|
0.00003
|
NM_000532.5(PCCB):c.1399-5C>T
|
rs575227657
|
0.00003
|
NM_000532.5(PCCB):c.1569C>G (p.Ala523=)
|
rs1418405958
|
0.00003
|
NM_000532.5(PCCB):c.372+15C>T
|
rs370726053
|
0.00003
|
NM_000532.5(PCCB):c.450G>A (p.Thr150=)
|
rs749989578
|
0.00003
|
NM_000532.5(PCCB):c.654+12G>T
|
rs770141659
|
0.00003
|
NM_000532.5(PCCB):c.855G>A (p.Pro285=)
|
rs982512877
|
0.00003
|
NM_000532.5(PCCB):c.906T>G (p.Leu302=)
|
rs139600424
|
0.00003
|
NM_000532.5(PCCB):c.967-14A>G
|
rs1011978513
|
0.00003
|
NM_000554.6(CRX):c.100+13G>A
|
rs770361425
|
0.00003
|
NM_000687.4(AHCY):c.29-4G>A
|
rs774846394
|
0.00003
|
NM_000687.4(AHCY):c.321C>T (p.Asp107=)
|
rs760451324
|
0.00003
|
NM_000687.4(AHCY):c.445+11C>T
|
rs375253690
|
0.00003
|
NM_000709.4(BCKDHA):c.1070A>G (p.Gln357Arg)
|
rs185688419
|
0.00003
|
NM_000709.4(BCKDHA):c.108+12G>A
|
rs780834493
|
0.00003
|
NM_000709.4(BCKDHA):c.293C>T (p.Pro98Leu)
|
rs532803527
|
0.00003
|
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)
|
rs201366184
|
0.00003
|
NM_000709.4(BCKDHA):c.438C>T (p.Ala146=)
|
rs200947033
|
0.00003
|
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=)
|
rs750729027
|
0.00003
|
NM_000709.4(BCKDHA):c.647-16C>T
|
rs760230287
|
0.00003
|
NM_000709.4(BCKDHA):c.726T>C (p.Ser242=)
|
rs750023394
|
0.00003
|
NM_000709.4(BCKDHA):c.807C>T (p.Tyr269=)
|
rs775754845
|
0.00003
|
NM_000709.4(BCKDHA):c.819G>T (p.Thr273=)
|
rs201991385
|
0.00003
|
NM_000709.4(BCKDHA):c.867C>T (p.Pro289=)
|
rs779043936
|
0.00003
|
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=)
|
rs187669174
|
0.00003
|
NM_000709.4(BCKDHA):c.999C>T (p.Ile333=)
|
rs374450070
|
0.00003
|
NM_001002755.4(NFU1):c.702G>A (p.Glu234=)
|
rs561482249
|
0.00003
|
NM_001024845.3(SLC6A9):c.1096C>T (p.Leu366=)
|
rs749350979
|
0.00003
|
NM_001024845.3(SLC6A9):c.219C>T (p.Leu73=)
|
rs752331240
|
0.00003
|
NM_001024845.3(SLC6A9):c.31-6222C>T
|
rs200465924
|
0.00003
|
NM_001080.3(ALDH5A1):c.1014+13G>C
|
rs201217389
|
0.00003
|
NM_001080.3(ALDH5A1):c.1173+8dup
|
rs770822292
|
0.00003
|
NM_001080.3(ALDH5A1):c.1174-10C>T
|
rs754181566
|
0.00003
|
NM_001080.3(ALDH5A1):c.1314G>A (p.Glu438=)
|
rs1471758596
|
0.00003
|
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=)
|
rs775722631
|
0.00003
|
NM_001080.3(ALDH5A1):c.162C>T (p.Leu54=)
|
rs760612467
|
0.00003
|
NM_001080.3(ALDH5A1):c.355-4G>C
|
rs775932045
|
0.00003
|
NM_001080.3(ALDH5A1):c.490C>T (p.Leu164=)
|
rs749451380
|
0.00003
|
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=)
|
rs4646837
|
0.00003
|
NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=)
|
rs760461822
|
0.00003
|
NM_001080.3(ALDH5A1):c.696C>T (p.Asp232=)
|
rs145883639
|
0.00003
|
NM_001127222.2(CACNA1A):c.1191A>G (p.Ser397=)
|
rs781149861
|
0.00003
|
NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val)
|
rs774203605
|
0.00003
|
NM_001127222.2(CACNA1A):c.1442G>A (p.Arg481His)
|
rs763944721
|
0.00003
|
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)
|
rs375210532
|
0.00003
|
NM_001127222.2(CACNA1A):c.159G>T (p.Ala53=)
|
rs767892925
|
0.00003
|
NM_001127222.2(CACNA1A):c.198C>T (p.Pro66=)
|
rs774731482
|
0.00003
|
NM_001127222.2(CACNA1A):c.1990C>T (p.Leu664=)
|
rs1246140836
|
0.00003
|
NM_001127222.2(CACNA1A):c.1998C>T (p.Gly666=)
|
rs373695561
|
0.00003
|
NM_001127222.2(CACNA1A):c.2028G>A (p.Gly676=)
|
rs369129616
|
0.00003
|
NM_001127222.2(CACNA1A):c.2259G>A (p.Ala753=)
|
rs765929251
|
0.00003
|
NM_001127222.2(CACNA1A):c.2400C>G (p.Asp800Glu)
|
rs376074188
|
0.00003
|
NM_001127222.2(CACNA1A):c.2487G>A (p.Glu829=)
|
rs755434242
|
0.00003
|
NM_001127222.2(CACNA1A):c.2765G>T (p.Arg922Leu)
|
rs752824390
|
0.00003
|
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln)
|
rs768048563
|
0.00003
|
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val)
|
rs762396014
|
0.00003
|
NM_001127222.2(CACNA1A):c.2895G>C (p.Gly965=)
|
rs1057522107
|
0.00003
|
NM_001127222.2(CACNA1A):c.3017G>C (p.Arg1006Pro)
|
rs1268938831
|
0.00003
|
NM_001127222.2(CACNA1A):c.3090-6C>T
|
rs758040795
|
0.00003
|
NM_001127222.2(CACNA1A):c.3105C>T (p.Ser1035=)
|
rs768168157
|
0.00003
|
NM_001127222.2(CACNA1A):c.3119C>T (p.Ser1040Leu)
|
rs776628272
|
0.00003
|
NM_001127222.2(CACNA1A):c.3210C>T (p.Asn1070=)
|
rs369927027
|
0.00003
|
NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His)
|
rs201647627
|
0.00003
|
NM_001127222.2(CACNA1A):c.3372G>A (p.Thr1124=)
|
rs770311284
|
0.00003
|
NM_001127222.2(CACNA1A):c.3483G>A (p.Arg1161=)
|
rs772768681
|
0.00003
|
NM_001127222.2(CACNA1A):c.3490G>A (p.Asp1164Asn)
|
rs775838621
|
0.00003
|
NM_001127222.2(CACNA1A):c.3933C>G (p.Leu1311=)
|
rs372081879
|
0.00003
|
NM_001127222.2(CACNA1A):c.4470C>T (p.Tyr1490=)
|
rs1353710115
|
0.00003
|
NM_001127222.2(CACNA1A):c.4626G>A (p.Pro1542=)
|
rs768317498
|
0.00003
|
NM_001127222.2(CACNA1A):c.4951-14C>T
|
rs1019678447
|
0.00003
|
NM_001127222.2(CACNA1A):c.5421C>T (p.Ala1807=)
|
rs372359926
|
0.00003
|
NM_001127222.2(CACNA1A):c.5493C>T (p.Tyr1831=)
|
rs777510892
|
0.00003
|
NM_001127222.2(CACNA1A):c.549G>A (p.Ala183=)
|
rs16004
|
0.00003
|
NM_001127222.2(CACNA1A):c.5528+1273T>C
|
rs371000214
|
0.00003
|
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met)
|
rs771104002
|
0.00003
|
NM_001127222.2(CACNA1A):c.5853C>T (p.Thr1951=)
|
rs534218994
|
0.00003
|
NM_001127222.2(CACNA1A):c.5898G>A (p.Arg1966=)
|
rs370834253
|
0.00003
|
NM_001127222.2(CACNA1A):c.5940+5G>A
|
rs780060495
|
0.00003
|
NM_001127222.2(CACNA1A):c.6051-4G>A
|
rs1199529097
|
0.00003
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
NM_001127222.2(CACNA1A):c.6130A>G (p.Thr2044Ala)
|
rs566781445
|
0.00003
|
NM_001127222.2(CACNA1A):c.6192C>T (p.Ser2064=)
|
rs974692135
|
0.00003
|
NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln)
|
rs373229577
|
0.00003
|
NM_001127222.2(CACNA1A):c.6340-19G>A
|
rs916904971
|
0.00003
|
NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln)
|
rs779044548
|
0.00003
|
NM_001127222.2(CACNA1A):c.642C>T (p.Val214=)
|
rs1336839525
|
0.00003
|
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp)
|
rs756780624
|
0.00003
|
NM_001127222.2(CACNA1A):c.654G>A (p.Ser218=)
|
rs201991581
|
0.00003
|
NM_001127222.2(CACNA1A):c.6624A>C (p.Arg2208=)
|
rs556858383
|
0.00003
|
NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu)
|
rs1336146310
|
0.00003
|
NM_001127222.2(CACNA1A):c.6699G>A (p.Pro2233=)
|
rs1312330476
|
0.00003
|
NM_001127222.2(CACNA1A):c.6722G>A (p.Arg2241Gln)
|
rs773057074
|
0.00003
|
NM_001127222.2(CACNA1A):c.6780+8C>T
|
rs774169958
|
0.00003
|
NM_001127222.2(CACNA1A):c.6780+9G>A
|
rs763812565
|
0.00003
|
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)
|
rs749587119
|
0.00003
|
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=)
|
rs374451559
|
0.00003
|
NM_001243279.3(ACSF3):c.1501+11G>A
|
rs770771724
|
0.00003
|
NM_001243279.3(ACSF3):c.1502-5C>T
|
rs577763495
|
0.00003
|
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=)
|
rs375187216
|
0.00003
|
NM_001243279.3(ACSF3):c.1605G>A (p.Glu535=)
|
rs139813770
|
0.00003
|
NM_001243279.3(ACSF3):c.171C>T (p.Ile57=)
|
rs147044602
|
0.00003
|
NM_001243279.3(ACSF3):c.18G>A (p.Val6=)
|
rs375071176
|
0.00003
|
NM_001243279.3(ACSF3):c.321C>T (p.Ser107=)
|
rs901932797
|
0.00003
|
NM_001243279.3(ACSF3):c.45C>G (p.Ala15=)
|
rs771481057
|
0.00003
|
NM_001243279.3(ACSF3):c.474G>A (p.Pro158=)
|
rs757199694
|
0.00003
|
NM_001243279.3(ACSF3):c.498G>A (p.Pro166=)
|
rs748625786
|
0.00003
|
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=)
|
rs751461445
|
0.00003
|
NM_001243279.3(ACSF3):c.810C>T (p.Phe270=)
|
rs143501853
|
0.00003
|
NM_001243279.3(ACSF3):c.978-4G>A
|
rs370451473
|
0.00003
|
NM_001258392.3(CLPB):c.105G>T (p.Arg35=)
|
rs1336037926
|
0.00003
|
NM_001258392.3(CLPB):c.246C>T (p.Cys82=)
|
rs1004490311
|
0.00003
|
NM_001258392.3(CLPB):c.249C>T (p.Leu83=)
|
rs200845330
|
0.00003
|
NM_001258392.3(CLPB):c.543-12G>C
|
rs750871760
|
0.00003
|
NM_001258392.3(CLPB):c.990G>A (p.Ala330=)
|
rs765172842
|
0.00003
|
NM_001271.4(CHD2):c.1155T>A (p.Ala385=)
|
rs374640261
|
0.00003
|
NM_001271.4(CHD2):c.1199-11A>G
|
rs1236615732
|
0.00003
|
NM_001271.4(CHD2):c.1596G>A (p.Leu532=)
|
rs996584370
|
0.00003
|
NM_001271.4(CHD2):c.1680C>T (p.Asn560=)
|
rs368985360
|
0.00003
|
NM_001271.4(CHD2):c.1773A>G (p.Ala591=)
|
rs370425217
|
0.00003
|
NM_001271.4(CHD2):c.192G>A (p.Ser64=)
|
rs143614581
|
0.00003
|
NM_001271.4(CHD2):c.1938G>A (p.Gly646=)
|
rs985145180
|
0.00003
|
NM_001271.4(CHD2):c.2769G>A (p.Glu923=)
|
rs755268343
|
0.00003
|
NM_001271.4(CHD2):c.2850C>A (p.Ile950=)
|
rs780916645
|
0.00003
|
NM_001271.4(CHD2):c.3067-19A>G
|
rs749337105
|
0.00003
|
NM_001271.4(CHD2):c.3322T>A (p.Ser1108Thr)
|
rs750356605
|
0.00003
|
NM_001271.4(CHD2):c.3366T>C (p.Ser1122=)
|
rs781574098
|
0.00003
|
NM_001271.4(CHD2):c.3413+7G>T
|
rs892847874
|
0.00003
|
NM_001271.4(CHD2):c.3596-15A>T
|
rs376417647
|
0.00003
|
NM_001271.4(CHD2):c.4029G>A (p.Lys1343=)
|
rs200781322
|
0.00003
|
NM_001271.4(CHD2):c.4036G>T (p.Val1346Leu)
|
rs200178864
|
0.00003
|
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del)
|
rs746694647
|
0.00003
|
NM_001271.4(CHD2):c.4242C>T (p.Asp1414=)
|
rs771971989
|
0.00003
|
NM_001271.4(CHD2):c.4434C>G (p.Pro1478=)
|
rs199572989
|
0.00003
|
NM_001271.4(CHD2):c.4584C>G (p.Leu1528=)
|
rs543526502
|
0.00003
|
NM_001271.4(CHD2):c.585G>A (p.Pro195=)
|
rs371325259
|
0.00003
|
NM_001271.4(CHD2):c.596G>A (p.Arg199His)
|
rs367550855
|
0.00003
|
NM_001271.4(CHD2):c.62+19C>A
|
rs748026656
|
0.00003
|
NM_001271.4(CHD2):c.827-12A>C
|
rs759241973
|
0.00003
|
NM_001271.4(CHD2):c.881G>T (p.Gly294Val)
|
rs771390521
|
0.00003
|
NM_001278293.3(ARL6):c.93G>A (p.Thr31=)
|
rs778479091
|
0.00003
|
NM_001352514.2(HLCS):c.1119C>T (p.Pro373=)
|
rs768927843
|
0.00003
|
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
|
rs147495853
|
0.00003
|
NM_001352514.2(HLCS):c.1911G>A (p.Pro637=)
|
rs775832153
|
0.00003
|
NM_001352514.2(HLCS):c.1935C>T (p.Ile645=)
|
rs749728724
|
0.00003
|
NM_001352514.2(HLCS):c.2181C>T (p.Ile727=)
|
rs375456567
|
0.00003
|
NM_001352514.2(HLCS):c.2184C>T (p.Gly728=)
|
rs370277326
|
0.00003
|
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val)
|
rs199517800
|
0.00003
|
NM_001352514.2(HLCS):c.2451-8C>G
|
rs373177254
|
0.00003
|
NM_001352514.2(HLCS):c.2511C>T (p.Asp837=)
|
rs761596791
|
0.00003
|
NM_001352514.2(HLCS):c.885C>T (p.Pro295=)
|
rs139989284
|
0.00003
|
NM_001370658.1(BTD):c.1456C>T (p.Leu486=)
|
rs774018881
|
0.00003
|
NM_001370658.1(BTD):c.400-10T>G
|
rs750494564
|
0.00003
|
NM_001370658.1(BTD):c.72C>T (p.Thr24=)
|
rs765550405
|
0.00003
|
NM_001370658.1(BTD):c.997G>A (p.Glu333Lys)
|
rs753466926
|
0.00003
|
NM_001482.3(GATM):c.1159+14A>G
|
rs368974196
|
0.00003
|
NM_001482.3(GATM):c.1239G>A (p.Arg413=)
|
rs550159982
|
0.00003
|
NM_001609.4(ACADSB):c.1026G>A (p.Gln342=)
|
rs755539165
|
0.00003
|
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
|
rs770933347
|
0.00003
|
NM_001698.3(AUH):c.506-9C>T
|
rs537751591
|
0.00003
|
NM_001698.3(AUH):c.657G>A (p.Gly219=)
|
rs141110052
|
0.00003
|
NM_001739.2(CA5A):c.687C>T (p.Thr229=)
|
rs369600488
|
0.00003
|
NM_001875.5(CPS1):c.1662A>G (p.Leu554=)
|
rs778112132
|
0.00003
|
NM_001875.5(CPS1):c.1707+11T>G
|
rs377732856
|
0.00003
|
NM_001875.5(CPS1):c.3404+8T>A
|
rs767159571
|
0.00003
|
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)
|
rs555151297
|
0.00003
|
NM_001875.5(CPS1):c.3952T>C (p.Leu1318=)
|
rs769593170
|
0.00003
|
NM_001875.5(CPS1):c.4164G>A (p.Leu1388=)
|
rs750003966
|
0.00003
|
NM_001875.5(CPS1):c.840+10A>G
|
rs778447367
|
0.00003
|
NM_001876.4(CPT1A):c.1152C>T (p.Thr384=)
|
rs765003303
|
0.00003
|
NM_001876.4(CPT1A):c.1352+14C>A
|
rs777403181
|
0.00003
|
NM_001876.4(CPT1A):c.1353-15G>A
|
rs17848451
|
0.00003
|
NM_001876.4(CPT1A):c.1437G>A (p.Pro479=)
|
rs554525176
|
0.00003
|
NM_001876.4(CPT1A):c.1440C>T (p.Ile480=)
|
rs746623711
|
0.00003
|
NM_001876.4(CPT1A):c.1461C>T (p.Tyr487=)
|
rs757568196
|
0.00003
|
NM_001876.4(CPT1A):c.1518C>T (p.Gly506=)
|
rs573112017
|
0.00003
|
NM_001876.4(CPT1A):c.454-7T>C
|
rs780429219
|
0.00003
|
NM_001876.4(CPT1A):c.642A>G (p.Gly214=)
|
rs377534215
|
0.00003
|
NM_001876.4(CPT1A):c.694-5A>G
|
rs533087846
|
0.00003
|
NM_001876.4(CPT1A):c.741G>A (p.Pro247=)
|
rs1034760579
|
0.00003
|
NM_001958.5(EEF1A2):c.1092C>T (p.His364=)
|
rs1455059454
|
0.00003
|
NM_001958.5(EEF1A2):c.1269C>T (p.Arg423=)
|
rs900643414
|
0.00003
|
NM_001958.5(EEF1A2):c.1281C>T (p.Arg427=)
|
rs776988182
|
0.00003
|
NM_001958.5(EEF1A2):c.180G>C (p.Leu60=)
|
rs760484799
|
0.00003
|
NM_001958.5(EEF1A2):c.288C>T (p.Arg96=)
|
rs368043002
|
0.00003
|
NM_001958.5(EEF1A2):c.39C>T (p.Ile13=)
|
rs762508675
|
0.00003
|
NM_001958.5(EEF1A2):c.504C>T (p.Asp168=)
|
rs757395064
|
0.00003
|
NM_001958.5(EEF1A2):c.543C>T (p.Ile181=)
|
rs1057115359
|
0.00003
|
NM_001958.5(EEF1A2):c.621+18C>T
|
rs555535397
|
0.00003
|
NM_001958.5(EEF1A2):c.717G>A (p.Thr239=)
|
rs1355719317
|
0.00003
|
NM_001958.5(EEF1A2):c.772+12C>T
|
rs754595612
|
0.00003
|
NM_001958.5(EEF1A2):c.921C>T (p.Asn307=)
|
rs1057522085
|
0.00003
|
NM_001958.5(EEF1A2):c.924C>T (p.Val308=)
|
rs779912733
|
0.00003
|
NM_001958.5(EEF1A2):c.93C>T (p.Cys31=)
|
rs747910289
|
0.00003
|
NM_001985.3(ETFB):c.135G>A (p.Ala45=)
|
rs372040033
|
0.00003
|
NM_002225.5(IVD):c.1066-10C>T
|
rs774472099
|
0.00003
|
NM_002225.5(IVD):c.1066-4G>A
|
rs374193700
|
0.00003
|
NM_002225.5(IVD):c.1139-8G>C
|
rs755640305
|
0.00003
|
NM_002225.5(IVD):c.264C>T (p.Gly88=)
|
rs377199313
|
0.00003
|
NM_002225.5(IVD):c.576C>T (p.Asn192=)
|
rs756184085
|
0.00003
|
NM_002225.5(IVD):c.609C>T (p.Asp203=)
|
rs563452741
|
0.00003
|
NM_002225.5(IVD):c.785-9T>C
|
rs374999241
|
0.00003
|
NM_002225.5(IVD):c.873T>C (p.Pro291=)
|
rs537402391
|
0.00003
|
NM_002225.5(IVD):c.960+8G>A
|
rs531429598
|
0.00003
|
NM_002454.3(MTRR):c.1080A>C (p.Ile360=)
|
rs969738618
|
0.00003
|
NM_002454.3(MTRR):c.1188T>C (p.Ala396=)
|
rs763760088
|
0.00003
|
NM_002454.3(MTRR):c.1287C>T (p.Leu429=)
|
rs551079367
|
0.00003
|
NM_002454.3(MTRR):c.402-20C>T
|
rs565590605
|
0.00003
|
NM_002860.4(ALDH18A1):c.1110G>A (p.Ala370=)
|
rs558532112
|
0.00003
|
NM_002860.4(ALDH18A1):c.1172A>G (p.His391Arg)
|
rs774081826
|
0.00003
|
NM_002860.4(ALDH18A1):c.1380C>T (p.Ile460=)
|
rs770247123
|
0.00003
|
NM_002860.4(ALDH18A1):c.1467+15C>T
|
rs374652686
|
0.00003
|
NM_002860.4(ALDH18A1):c.2040C>T (p.Asn680=)
|
rs145806693
|
0.00003
|
NM_002860.4(ALDH18A1):c.2121G>A (p.Ala707=)
|
rs753837028
|
0.00003
|
NM_002860.4(ALDH18A1):c.933+14G>A
|
rs546156675
|
0.00003
|
NM_002860.4(ALDH18A1):c.948C>T (p.Leu316=)
|
rs769800738
|
0.00003
|
NM_003042.4(SLC6A1):c.1191+11C>T
|
rs764670075
|
0.00003
|
NM_003042.4(SLC6A1):c.1191+8C>T
|
rs1259297873
|
0.00003
|
NM_003042.4(SLC6A1):c.1224G>A (p.Leu408=)
|
rs1422692085
|
0.00003
|
NM_003042.4(SLC6A1):c.1516A>G (p.Ile506Val)
|
rs529455113
|
0.00003
|
NM_003042.4(SLC6A1):c.1559C>T (p.Thr520Met)
|
rs372892801
|
0.00003
|
NM_003042.4(SLC6A1):c.1722C>T (p.Ser574=)
|
rs145387062
|
0.00003
|
NM_003042.4(SLC6A1):c.1731C>T (p.Ile577=)
|
rs778960516
|
0.00003
|
NM_003042.4(SLC6A1):c.660C>T (p.Ile220=)
|
rs760984163
|
0.00003
|
NM_003042.4(SLC6A1):c.779C>T (p.Thr260Met)
|
rs777446246
|
0.00003
|
NM_003042.4(SLC6A1):c.849+9C>T
|
rs370642265
|
0.00003
|
NM_003042.4(SLC6A1):c.966C>T (p.Ile322=)
|
rs757627416
|
0.00003
|
NM_003060.4(SLC22A5):c.1053-14G>A
|
rs779432700
|
0.00003
|
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp)
|
rs200125400
|
0.00003
|
NM_003060.4(SLC22A5):c.1468C>T (p.Leu490=)
|
rs1580895743
|
0.00003
|
NM_003060.4(SLC22A5):c.1539C>T (p.Phe513=)
|
rs370593952
|
0.00003
|
NM_003060.4(SLC22A5):c.1548A>G (p.Pro516=)
|
rs1253149319
|
0.00003
|
NM_003060.4(SLC22A5):c.1587-11T>G
|
rs772775759
|
0.00003
|
NM_003060.4(SLC22A5):c.312C>T (p.Asp104=)
|
rs895049211
|
0.00003
|
NM_003060.4(SLC22A5):c.572A>G (p.Lys191Arg)
|
rs200290813
|
0.00003
|
NM_003060.4(SLC22A5):c.696G>A (p.Thr232=)
|
rs748677211
|
0.00003
|
NM_003060.4(SLC22A5):c.843C>T (p.Pro281=)
|
rs764544978
|
0.00003
|
NM_003748.4(ALDH4A1):c.1467C>G (p.Val489=)
|
rs377587520
|
0.00003
|
NM_003748.4(ALDH4A1):c.432C>T (p.Leu144=)
|
rs781234955
|
0.00003
|
NM_003748.4(ALDH4A1):c.624G>A (p.Ser208=)
|
rs142063145
|
0.00003
|
NM_003982.4(SLC7A7):c.1122C>T (p.Cys374=)
|
rs771254387
|
0.00003
|
NM_003982.4(SLC7A7):c.1407G>A (p.Pro469=)
|
rs1182780017
|
0.00003
|
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)
|
rs765682604
|
0.00003
|
NM_003982.4(SLC7A7):c.862A>C (p.Arg288=)
|
rs143240690
|
0.00003
|
NM_003982.4(SLC7A7):c.894+10T>A
|
rs769176965
|
0.00003
|
NM_003982.4(SLC7A7):c.981C>T (p.Ser327=)
|
rs139335972
|
0.00003
|
NM_003982.4(SLC7A7):c.99G>A (p.Leu33=)
|
rs757080971
|
0.00003
|
NM_004408.4(DNM1):c.1176C>T (p.Ile392=)
|
rs760314213
|
0.00003
|
NM_004408.4(DNM1):c.1197-16C>T
|
rs769415906
|
0.00003
|
NM_004408.4(DNM1):c.1335+16G>A
|
rs768442528
|
0.00003
|
NM_004408.4(DNM1):c.1390A>G (p.Ile464Val)
|
rs992608425
|
0.00003
|
NM_004408.4(DNM1):c.1558-16C>T
|
rs768903530
|
0.00003
|
NM_004408.4(DNM1):c.1568A>G (p.Lys523Arg)
|
rs760956595
|
0.00003
|
NM_004408.4(DNM1):c.1672-15T>C
|
rs1184633809
|
0.00003
|
NM_004408.4(DNM1):c.1722C>T (p.Asp574=)
|
rs1404706727
|
0.00003
|
NM_004408.4(DNM1):c.1893+9C>A
|
rs769121301
|
0.00003
|
NM_004408.4(DNM1):c.1906-20C>T
|
rs1284100485
|
0.00003
|
NM_004408.4(DNM1):c.1917C>T (p.Thr639=)
|
rs528464319
|
0.00003
|
NM_004408.4(DNM1):c.2322G>T (p.Ser774=)
|
rs566718787
|
0.00003
|
NM_004408.4(DNM1):c.2427G>T (p.Leu809=)
|
rs897409469
|
0.00003
|
NM_004408.4(DNM1):c.387G>A (p.Val129=)
|
rs758325864
|
0.00003
|
NM_004408.4(DNM1):c.678C>G (p.Pro226=)
|
rs150094408
|
0.00003
|
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val)
|
rs201823591
|
0.00003
|
NM_004453.4(ETFDH):c.1468+12_1468+13del
|
rs769120603
|
0.00003
|
NM_004453.4(ETFDH):c.1560A>C (p.Ser520=)
|
rs566844923
|
0.00003
|
NM_004453.4(ETFDH):c.606+14T>C
|
rs139113830
|
0.00003
|
NM_004453.4(ETFDH):c.642T>C (p.Ile214=)
|
rs201049444
|
0.00003
|
NM_004453.4(ETFDH):c.651C>T (p.Asn217=)
|
rs562079045
|
0.00003
|
NM_004483.5(GCSH):c.129T>C (p.Thr43=)
|
rs867378019
|
0.00003
|
NM_004937.3(CTNS):c.117G>A (p.Ser39=)
|
rs765428193
|
0.00003
|
NM_004937.3(CTNS):c.461+8C>T
|
rs368822078
|
0.00003
|
NM_004937.3(CTNS):c.621C>T (p.Phe207=)
|
rs749428707
|
0.00003
|
NM_004937.3(CTNS):c.726G>C (p.Val242=)
|
rs777045218
|
0.00003
|
NM_004937.3(CTNS):c.831G>T (p.Thr277=)
|
rs533147998
|
0.00003
|
NM_004937.3(CTNS):c.951C>T (p.Phe317=)
|
rs770096901
|
0.00003
|
NM_004974.4(KCNA2):c.1215G>A (p.Pro405=)
|
rs368489072
|
0.00003
|
NM_004974.4(KCNA2):c.363A>G (p.Glu121=)
|
rs747745503
|
0.00003
|
NM_004975.4(KCNB1):c.168G>T (p.Arg56=)
|
rs780529809
|
0.00003
|
NM_004975.4(KCNB1):c.2116G>A (p.Ala706Thr)
|
rs779750227
|
0.00003
|
NM_004975.4(KCNB1):c.598G>A (p.Val200Ile)
|
rs748573940
|
0.00003
|
NM_005050.4(ABCD4):c.1028+9G>A
|
rs982830151
|
0.00003
|
NM_005050.4(ABCD4):c.1422G>T (p.Val474=)
|
rs763882047
|
0.00003
|
NM_005050.4(ABCD4):c.24C>G (p.Pro8=)
|
rs371692280
|
0.00003
|
NM_005050.4(ABCD4):c.425+7G>A
|
rs375608814
|
0.00003
|
NM_005327.7(HADH):c.486A>G (p.Arg162=)
|
rs377521547
|
0.00003
|
NM_005327.7(HADH):c.714C>T (p.Asp238=)
|
rs201739885
|
0.00003
|
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met)
|
rs782047045
|
0.00003
|
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=)
|
rs782036588
|
0.00003
|
NM_005334.3(HCFC1):c.2154G>A (p.Ala718=)
|
rs201614319
|
0.00003
|
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=)
|
rs1603296223
|
0.00003
|
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=)
|
rs782099695
|
0.00003
|
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=)
|
rs372301724
|
0.00003
|
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=)
|
rs781889604
|
0.00003
|
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=)
|
rs782457287
|
0.00003
|
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)
|
rs782313635
|
0.00003
|
NM_005334.3(HCFC1):c.504-9C>T
|
rs781961920
|
0.00003
|
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=)
|
rs1557112253
|
0.00003
|
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=)
|
rs369626014
|
0.00003
|
NM_005518.4(HMGCS2):c.1016+10C>T
|
rs770388243
|
0.00003
|
NM_005629.4(SLC6A8):c.1021G>A (p.Ala341Thr)
|
rs782741852
|
0.00003
|
NM_005629.4(SLC6A8):c.1161C>T (p.Ile387=)
|
rs782582952
|
0.00003
|
NM_005629.4(SLC6A8):c.180C>T (p.Asp60=)
|
rs781939862
|
0.00003
|
NM_005629.4(SLC6A8):c.1869C>T (p.Ser623=)
|
rs782748657
|
0.00003
|
NM_005629.4(SLC6A8):c.1870G>A (p.Glu624Lys)
|
rs368555229
|
0.00003
|
NM_005629.4(SLC6A8):c.234C>T (p.Phe78=)
|
rs1229187797
|
0.00003
|
NM_005629.4(SLC6A8):c.409T>G (p.Ser137Ala)
|
rs782360920
|
0.00003
|
NM_005881.4(BCKDK):c.654C>T (p.Val218=)
|
rs368040635
|
0.00003
|
NM_005957.5(MTHFR):c.1068G>A (p.Lys356=)
|
rs749442724
|
0.00003
|
NM_005957.5(MTHFR):c.1368C>T (p.Asn456=)
|
rs201105692
|
0.00003
|
NM_005957.5(MTHFR):c.1411C>T (p.Leu471=)
|
rs370996045
|
0.00003
|
NM_005957.5(MTHFR):c.1467C>T (p.Asn489=)
|
rs374026519
|
0.00003
|
NM_005957.5(MTHFR):c.1752+11C>T
|
rs45598534
|
0.00003
|
NM_005957.5(MTHFR):c.18A>G (p.Arg6=)
|
rs748686763
|
0.00003
|
NM_005957.5(MTHFR):c.237-9C>T
|
rs765794234
|
0.00003
|
NM_005957.5(MTHFR):c.756C>T (p.Ile252=)
|
rs1379249594
|
0.00003
|
NM_005957.5(MTHFR):c.783C>G (p.Gly261=)
|
rs960207316
|
0.00003
|
NM_005957.5(MTHFR):c.819G>A (p.Lys273=)
|
rs757497217
|
0.00003
|
NM_005957.5(MTHFR):c.918C>T (p.Cys306=)
|
rs45498098
|
0.00003
|
NM_006623.4(PHGDH):c.1044G>T (p.Gly348=)
|
rs761417256
|
0.00003
|
NM_006623.4(PHGDH):c.1224C>T (p.His408=)
|
rs746907048
|
0.00003
|
NM_006623.4(PHGDH):c.1401A>G (p.Leu467=)
|
rs768039058
|
0.00003
|
NM_006623.4(PHGDH):c.486C>A (p.Thr162=)
|
rs1054405028
|
0.00003
|
NM_006623.4(PHGDH):c.644-13C>T
|
rs761863796
|
0.00003
|
NM_006623.4(PHGDH):c.903T>G (p.Val301=)
|
rs777075726
|
0.00003
|
NM_006859.4(LIAS):c.168G>A (p.Arg56=)
|
rs768182597
|
0.00003
|
NM_006859.4(LIAS):c.375C>T (p.Thr125=)
|
rs538035764
|
0.00003
|
NM_006859.4(LIAS):c.738-20A>G
|
rs777702565
|
0.00003
|
NM_012213.3(MLYCD):c.1344C>T (p.Cys448=)
|
rs534173407
|
0.00003
|
NM_012213.3(MLYCD):c.505C>T (p.Leu169=)
|
rs771885443
|
0.00003
|
NM_012213.3(MLYCD):c.762C>T (p.His254=)
|
rs773274796
|
0.00003
|
NM_012213.3(MLYCD):c.894C>G (p.Leu298=)
|
rs368719157
|
0.00003
|
NM_012213.3(MLYCD):c.949-8C>G
|
rs1314128180
|
0.00003
|
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu)
|
rs139149160
|
0.00003
|
NM_014251.3(SLC25A13):c.212+16A>C
|
rs780250852
|
0.00003
|
NM_014252.4(SLC25A15):c.453-8C>T
|
rs368094314
|
0.00003
|
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=)
|
rs146145710
|
0.00003
|
NM_015506.3(MMACHC):c.156A>G (p.Val52=)
|
rs763931975
|
0.00003
|
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu)
|
rs747214324
|
0.00003
|
NM_015506.3(MMACHC):c.82-10T>C
|
rs778416032
|
0.00003
|
NM_015506.3(MMACHC):c.831T>C (p.Pro277=)
|
rs1322086708
|
0.00003
|
NM_015509.4(NECAP1):c.492+7A>G
|
rs1449501710
|
0.00003
|
NM_015509.4(NECAP1):c.804G>A (p.Gln268=)
|
rs112884329
|
0.00003
|
NM_015662.3(IFT172):c.1222-5C>T
|
rs920680020
|
0.00003
|
NM_015662.3(IFT172):c.1325+11A>G
|
rs767955758
|
0.00003
|
NM_015662.3(IFT172):c.1693-15G>A
|
rs1214000278
|
0.00003
|
NM_015662.3(IFT172):c.1893G>A (p.Leu631=)
|
rs774534899
|
0.00003
|
NM_015662.3(IFT172):c.2388A>G (p.Thr796=)
|
rs750450341
|
0.00003
|
NM_015662.3(IFT172):c.297-13T>C
|
rs376856549
|
0.00003
|
NM_015662.3(IFT172):c.2975+14C>T
|
rs764978738
|
0.00003
|
NM_015662.3(IFT172):c.3159C>T (p.Leu1053=)
|
rs751712354
|
0.00003
|
NM_015662.3(IFT172):c.357A>G (p.Gln119=)
|
rs749934202
|
0.00003
|
NM_015662.3(IFT172):c.3597C>T (p.Val1199=)
|
rs371169770
|
0.00003
|
NM_015662.3(IFT172):c.3822-16G>A
|
rs373661630
|
0.00003
|
NM_015662.3(IFT172):c.4051-9A>G
|
rs772647033
|
0.00003
|
NM_015662.3(IFT172):c.4161-16C>T
|
rs573518240
|
0.00003
|
NM_015662.3(IFT172):c.4225-18dup
|
rs773571606
|
0.00003
|
NM_015662.3(IFT172):c.456G>A (p.Glu152=)
|
rs771141815
|
0.00003
|
NM_015662.3(IFT172):c.4689A>G (p.Ser1563=)
|
rs370933808
|
0.00003
|
NM_015662.3(IFT172):c.4815+19C>T
|
rs371490518
|
0.00003
|
NM_015662.3(IFT172):c.4915-17C>T
|
rs1431263019
|
0.00003
|
NM_016335.6(PRODH):c.417C>T (p.Ser139=)
|
rs1414061185
|
0.00003
|
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
0.00003
|
NM_018706.7(DHTKD1):c.155-20T>A
|
rs777435388
|
0.00003
|
NM_018706.7(DHTKD1):c.2016C>T (p.Ala672=)
|
rs750587155
|
0.00003
|
NM_018706.7(DHTKD1):c.2048-16C>T
|
rs752596009
|
0.00003
|
NM_018706.7(DHTKD1):c.2250G>A (p.Arg750=)
|
rs371391583
|
0.00003
|
NM_018706.7(DHTKD1):c.2325C>T (p.Ala775=)
|
rs755569908
|
0.00003
|
NM_018706.7(DHTKD1):c.2403-7C>G
|
rs552132988
|
0.00003
|
NM_018706.7(DHTKD1):c.2652C>T (p.Ala884=)
|
rs755776129
|
0.00003
|
NM_018706.7(DHTKD1):c.311-20C>G
|
rs368615319
|
0.00003
|
NM_018706.7(DHTKD1):c.555G>A (p.Ser185=)
|
rs1157871671
|
0.00003
|
NM_018706.7(DHTKD1):c.988-18C>T
|
rs371869013
|
0.00003
|
NM_020166.5(MCCC1):c.1113C>T (p.Ser371=)
|
rs368135707
|
0.00003
|
NM_020166.5(MCCC1):c.1212C>T (p.His404=)
|
rs769780560
|
0.00003
|
NM_020166.5(MCCC1):c.1314C>T (p.Val438=)
|
rs774243822
|
0.00003
|
NM_020166.5(MCCC1):c.1341A>G (p.Ala447=)
|
rs757687424
|
0.00003
|
NM_020166.5(MCCC1):c.1377+17C>T
|
rs375624644
|
0.00003
|
NM_020166.5(MCCC1):c.1431A>G (p.Pro477=)
|
rs547421709
|
0.00003
|
NM_020166.5(MCCC1):c.2010G>A (p.Ala670=)
|
rs370727510
|
0.00003
|
NM_020166.5(MCCC1):c.300C>T (p.Pro100=)
|
rs747409426
|
0.00003
|
NM_020166.5(MCCC1):c.492-5T>C
|
rs775353666
|
0.00003
|
NM_020166.5(MCCC1):c.759G>A (p.Pro253=)
|
rs761851977
|
0.00003
|
NM_020166.5(MCCC1):c.78C>T (p.Leu26=)
|
rs760268547
|
0.00003
|
NM_020166.5(MCCC1):c.90-20C>T
|
rs369103962
|
0.00003
|
NM_020686.6(ABAT):c.1053C>T (p.Asp351=)
|
rs772233141
|
0.00003
|
NM_020686.6(ABAT):c.1123-15C>T
|
rs376574278
|
0.00003
|
NM_020686.6(ABAT):c.168+13C>T
|
rs759610129
|
0.00003
|
NM_020686.6(ABAT):c.317-8G>C
|
rs747682160
|
0.00003
|
NM_020686.6(ABAT):c.447+13G>A
|
rs200598762
|
0.00003
|
NM_020686.6(ABAT):c.678G>A (p.Ala226=)
|
rs112564762
|
0.00003
|
NM_020686.6(ABAT):c.70+10G>A
|
rs553745013
|
0.00003
|
NM_020686.6(ABAT):c.708C>T (p.Ile236=)
|
rs778110660
|
0.00003
|
NM_020686.6(ABAT):c.909C>T (p.His303=)
|
rs532330605
|
0.00003
|
NM_020686.6(ABAT):c.990C>T (p.Thr330=)
|
rs369874487
|
0.00003
|
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)
|
rs201238842
|
0.00003
|
NM_022132.5(MCCC2):c.1449C>T (p.Ala483=)
|
rs1049308310
|
0.00003
|
NM_022132.5(MCCC2):c.1521G>A (p.Glu507=)
|
rs1266022580
|
0.00003
|
NM_022132.5(MCCC2):c.219A>C (p.Ala73=)
|
rs1048291170
|
0.00003
|
NM_022132.5(MCCC2):c.25C>T (p.Leu9=)
|
rs1285116638
|
0.00003
|
NM_022132.5(MCCC2):c.282-8C>T
|
rs574221691
|
0.00003
|
NM_022132.5(MCCC2):c.864G>A (p.Arg288=)
|
rs368236133
|
0.00003
|
NM_022132.5(MCCC2):c.999+8A>G
|
rs575141754
|
0.00003
|
NM_025136.4(OPA3):c.39C>T (p.Tyr13=)
|
rs374843726
|
0.00003
|
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)
|
rs147401037
|
0.00003
|
NM_032861.4(SERAC1):c.1428C>T (p.Asn476=)
|
rs774371194
|
0.00003
|
NM_052845.4(MMAB):c.507C>T (p.Ala169=)
|
rs776916498
|
0.00003
|
NM_052845.4(MMAB):c.644+9G>A
|
rs748589454
|
0.00003
|
NM_052845.4(MMAB):c.732G>A (p.Ser244=)
|
rs186864802
|
0.00003
|
NM_054012.4(ASS1):c.1057G>A (p.Val353Ile)
|
rs754285392
|
0.00003
|
NM_054012.4(ASS1):c.132C>T (p.Phe44=)
|
rs761408245
|
0.00003
|
NM_054012.4(ASS1):c.175-4G>A
|
rs370817871
|
0.00003
|
NM_054012.4(ASS1):c.33C>T (p.Tyr11=)
|
rs574820010
|
0.00003
|
NM_054012.4(ASS1):c.495+8C>T
|
rs762250168
|
0.00003
|
NM_054012.4(ASS1):c.570C>T (p.Tyr190=)
|
rs758481857
|
0.00003
|
NM_054012.4(ASS1):c.688+10C>T
|
rs890497211
|
0.00003
|
NM_054012.4(ASS1):c.786C>T (p.Gly262=)
|
rs536799104
|
0.00003
|
NM_054012.4(ASS1):c.849G>A (p.Glu283=)
|
rs569267797
|
0.00003
|
NM_058179.4(PSAT1):c.240C>T (p.Cys80=)
|
rs371446138
|
0.00003
|
NM_058179.4(PSAT1):c.740+10G>A
|
rs553502763
|
0.00003
|
NM_058179.4(PSAT1):c.869+9A>G
|
rs368990190
|
0.00003
|
NM_152419.3(HGSNAT):c.1044G>A (p.Val348=)
|
rs374020825
|
0.00003
|
NM_152419.3(HGSNAT):c.1129-6A>G
|
rs777965568
|
0.00003
|
NM_152419.3(HGSNAT):c.1250+11C>A
|
rs185075731
|
0.00003
|
NM_152419.3(HGSNAT):c.1326C>T (p.Ile442=)
|
rs765410268
|
0.00003
|
NM_152419.3(HGSNAT):c.234+17A>G
|
rs1177889475
|
0.00003
|
NM_152419.3(HGSNAT):c.563+20C>T
|
rs367934394
|
0.00003
|
NM_152419.3(HGSNAT):c.654G>A (p.Arg218=)
|
rs561712734
|
0.00003
|
NM_152419.3(HGSNAT):c.711G>A (p.Pro237=)
|
rs376484914
|
0.00003
|
NM_152542.5(PPM1K):c.174A>G (p.Pro58=)
|
rs569624511
|
0.00003
|
NM_152542.5(PPM1K):c.759C>T (p.His253=)
|
rs146016106
|
0.00003
|
NM_153006.3(NAGS):c.1038C>T (p.His346=)
|
rs754276418
|
0.00003
|
NM_153006.3(NAGS):c.1311G>T (p.Gly437=)
|
rs762358574
|
0.00003
|
NM_153006.3(NAGS):c.1416C>T (p.Phe472=)
|
rs769484401
|
0.00003
|
NM_153006.3(NAGS):c.1479C>T (p.Phe493=)
|
rs551970622
|
0.00003
|
NM_172250.3(MMAA):c.563-12T>C
|
rs199938583
|
0.00003
|
NM_172250.3(MMAA):c.787C>T (p.Leu263=)
|
rs759947234
|
0.00003
|
NM_172250.3(MMAA):c.970-5G>A
|
rs370814663
|
0.00003
|
NM_177550.5(SLC13A5):c.1062C>T (p.Val354=)
|
rs908065981
|
0.00003
|
NM_177550.5(SLC13A5):c.1206C>T (p.Thr402=)
|
rs143869456
|
0.00003
|
NM_177550.5(SLC13A5):c.1281G>A (p.Ser427=)
|
rs377534564
|
0.00003
|
NM_177550.5(SLC13A5):c.1290C>T (p.Ser430=)
|
rs756166033
|
0.00003
|
NM_177550.5(SLC13A5):c.1485C>G (p.Thr495=)
|
rs907914369
|
0.00003
|
NM_177550.5(SLC13A5):c.207C>T (p.Leu69=)
|
rs560691044
|
0.00003
|
NM_177550.5(SLC13A5):c.368+9G>A
|
rs764226590
|
0.00003
|
NM_177550.5(SLC13A5):c.654C>T (p.Ile218=)
|
rs547998800
|
0.00003
|
NM_177550.5(SLC13A5):c.906G>T (p.Leu302=)
|
rs1334051824
|
0.00003
|
NM_201253.3(CRB1):c.1480C>T (p.Leu494=)
|
rs530821170
|
0.00003
|
NM_201253.3(CRB1):c.2874C>T (p.Ser958=)
|
rs372778560
|
0.00003
|
NM_201253.3(CRB1):c.2925T>C (p.Asn975=)
|
rs1413108078
|
0.00003
|
NM_201253.3(CRB1):c.2979A>G (p.Glu993=)
|
rs557653092
|
0.00003
|
NM_201253.3(CRB1):c.3318T>C (p.Tyr1106=)
|
rs186077696
|
0.00003
|
NM_201253.3(CRB1):c.3702T>C (p.Asn1234=)
|
rs747978870
|
0.00003
|
NM_205861.3(DHDDS):c.219G>A (p.Val73=)
|
rs771438629
|
0.00003
|
NM_205861.3(DHDDS):c.273C>T (p.Asp91=)
|
rs201045286
|
0.00003
|
NM_205861.3(DHDDS):c.441-10C>T
|
rs763275058
|
0.00003
|
NM_205861.3(DHDDS):c.651A>G (p.Leu217=)
|
rs1296634591
|
0.00003
|
NM_000016.6(ACADM):c.12G>C (p.Gly4=)
|
rs757845443
|
0.00002
|
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
|
rs1212443202
|
0.00002
|
NM_000016.6(ACADM):c.474T>C (p.Tyr158=)
|
rs757198475
|
0.00002
|
NM_000016.6(ACADM):c.6A>C (p.Ala2=)
|
rs752190688
|
0.00002
|
NM_000016.6(ACADM):c.798C>T (p.Asp266=)
|
rs765170454
|
0.00002
|
NM_000016.6(ACADM):c.927C>T (p.Phe309=)
|
rs771550655
|
0.00002
|
NM_000017.4(ACADS):c.46+15G>A
|
rs777164036
|
0.00002
|
NM_000017.4(ACADS):c.579G>A (p.Ser193=)
|
rs777162096
|
0.00002
|
NM_000017.4(ACADS):c.933+14C>G
|
rs753402878
|
0.00002
|
NM_000018.4(ACADVL):c.1269+8C>G
|
rs766504482
|
0.00002
|
NM_000018.4(ACADVL):c.138+10C>G
|
rs1057523013
|
0.00002
|
NM_000018.4(ACADVL):c.138+7C>A
|
rs1462406529
|
0.00002
|
NM_000018.4(ACADVL):c.1389G>A (p.Gly463=)
|
rs377305356
|
0.00002
|
NM_000018.4(ACADVL):c.1434+7C>T
|
rs748136425
|
0.00002
|
NM_000018.4(ACADVL):c.1435-11T>C
|
rs745620433
|
0.00002
|
NM_000018.4(ACADVL):c.1614G>A (p.Arg538=)
|
rs144450894
|
0.00002
|
NM_000018.4(ACADVL):c.1710C>T (p.Asp570=)
|
rs759638134
|
0.00002
|
NM_000018.4(ACADVL):c.1751+12G>A
|
rs1380275062
|
0.00002
|
NM_000018.4(ACADVL):c.1765C>T (p.Leu589=)
|
rs533344677
|
0.00002
|
NM_000018.4(ACADVL):c.1791G>A (p.Gln597=)
|
rs372453844
|
0.00002
|
NM_000018.4(ACADVL):c.1827+8T>C
|
rs941400018
|
0.00002
|
NM_000018.4(ACADVL):c.1866G>A (p.Gln622=)
|
rs373898227
|
0.00002
|
NM_000018.4(ACADVL):c.273G>A (p.Pro91=)
|
rs778993830
|
0.00002
|
NM_000018.4(ACADVL):c.342+14C>T
|
rs567468883
|
0.00002
|
NM_000018.4(ACADVL):c.423C>T (p.Ala141=)
|
rs757296575
|
0.00002
|
NM_000018.4(ACADVL):c.477+12C>G
|
rs1057523521
|
0.00002
|
NM_000018.4(ACADVL):c.477+8C>T
|
rs1437698813
|
0.00002
|
NM_000018.4(ACADVL):c.477+9G>A
|
rs780716056
|
0.00002
|
NM_000018.4(ACADVL):c.478-8C>G
|
rs1300294861
|
0.00002
|
NM_000018.4(ACADVL):c.519C>T (p.Gly173=)
|
rs757830946
|
0.00002
|
NM_000018.4(ACADVL):c.622+18G>A
|
rs200740226
|
0.00002
|
NM_000018.4(ACADVL):c.822C>T (p.Ala274=)
|
rs372038260
|
0.00002
|
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)
|
rs531514327
|
0.00002
|
NM_000018.4(ACADVL):c.951G>T (p.Val317=)
|
rs1183459867
|
0.00002
|
NM_000018.4(ACADVL):c.957G>A (p.Ser319=)
|
rs143870522
|
0.00002
|
NM_000019.4(ACAT1):c.105A>G (p.Ser35=)
|
rs1442033328
|
0.00002
|
NM_000019.4(ACAT1):c.1147C>T (p.Leu383=)
|
rs1407616925
|
0.00002
|
NM_000019.4(ACAT1):c.225C>T (p.Ala75=)
|
rs747201837
|
0.00002
|
NM_000019.4(ACAT1):c.288A>G (p.Gln96=)
|
rs969770311
|
0.00002
|
NM_000019.4(ACAT1):c.342T>A (p.Pro114=)
|
rs941750006
|
0.00002
|
NM_000019.4(ACAT1):c.436-7T>C
|
rs775534544
|
0.00002
|
NM_000019.4(ACAT1):c.579+11T>C
|
rs1191067994
|
0.00002
|
NM_000019.4(ACAT1):c.687G>A (p.Gly229=)
|
rs545578010
|
0.00002
|
NM_000019.4(ACAT1):c.941-9T>G
|
rs980651269
|
0.00002
|
NM_000026.4(ADSL):c.1102-17C>T
|
rs754015340
|
0.00002
|
NM_000026.4(ADSL):c.114A>G (p.Thr38=)
|
rs377588571
|
0.00002
|
NM_000026.4(ADSL):c.1368+10C>T
|
rs1330219053
|
0.00002
|
NM_000026.4(ADSL):c.438T>C (p.Ala146=)
|
rs779272702
|
0.00002
|
NM_000026.4(ADSL):c.862+10G>A
|
rs747275092
|
0.00002
|
NM_000026.4(ADSL):c.879A>G (p.Pro293=)
|
rs758359453
|
0.00002
|
NM_000026.4(ADSL):c.894C>T (p.Pro298=)
|
rs145469983
|
0.00002
|
NM_000045.4(ARG1):c.234G>A (p.Glu78=)
|
rs571619062
|
0.00002
|
NM_000045.4(ARG1):c.306-5A>G
|
rs777553747
|
0.00002
|
NM_000045.4(ARG1):c.342C>T (p.Val114=)
|
rs751231138
|
0.00002
|
NM_000045.4(ARG1):c.411T>C (p.Ser137=)
|
rs759282838
|
0.00002
|
NM_000045.4(ARG1):c.525G>A (p.Val175=)
|
rs779060814
|
0.00002
|
NM_000045.4(ARG1):c.630G>A (p.Lys210=)
|
rs760873925
|
0.00002
|
NM_000045.4(ARG1):c.685C>T (p.Leu229=)
|
rs538034569
|
0.00002
|
NM_000045.4(ARG1):c.6C>T (p.Ser2=)
|
rs138584410
|
0.00002
|
NM_000045.4(ARG1):c.726A>T (p.Pro242=)
|
rs750244366
|
0.00002
|
NM_000048.4(ASL):c.1023C>T (p.Ala341=)
|
rs530889593
|
0.00002
|
NM_000048.4(ASL):c.1170C>A (p.Ala390=)
|
rs747116101
|
0.00002
|
NM_000048.4(ASL):c.1323C>T (p.Gly441=)
|
rs749685338
|
0.00002
|
NM_000048.4(ASL):c.1371G>A (p.Ala457=)
|
rs375514826
|
0.00002
|
NM_000048.4(ASL):c.208-4A>G
|
rs1293737779
|
0.00002
|
NM_000048.4(ASL):c.243G>C (p.Leu81=)
|
rs774204716
|
0.00002
|
NM_000048.4(ASL):c.294G>A (p.Glu98=)
|
rs778312880
|
0.00002
|
NM_000048.4(ASL):c.498C>T (p.Pro166=)
|
rs1293664442
|
0.00002
|
NM_000048.4(ASL):c.771C>T (p.Ala257=)
|
rs375586912
|
0.00002
|
NM_000048.4(ASL):c.861G>A (p.Lys287=)
|
rs370973627
|
0.00002
|
NM_000048.4(ASL):c.870C>G (p.Pro290=)
|
rs764804216
|
0.00002
|
NM_000048.4(ASL):c.918+13G>C
|
rs372611875
|
0.00002
|
NM_000048.4(ASL):c.919-4G>A
|
rs756230523
|
0.00002
|
NM_000071.3(CBS):c.1040-7T>C
|
rs750399521
|
0.00002
|
NM_000071.3(CBS):c.1209G>A (p.Thr403=)
|
rs199967147
|
0.00002
|
NM_000071.3(CBS):c.1251G>A (p.Leu417=)
|
rs764079534
|
0.00002
|
NM_000071.3(CBS):c.1359-10C>T
|
rs781475420
|
0.00002
|
NM_000071.3(CBS):c.1467+10C>T
|
rs778008141
|
0.00002
|
NM_000071.3(CBS):c.1593C>T (p.Phe531=)
|
rs768230991
|
0.00002
|
NM_000071.3(CBS):c.1605C>T (p.Thr535=)
|
rs769221457
|
0.00002
|
NM_000071.3(CBS):c.183C>T (p.Ser61=)
|
rs753906914
|
0.00002
|
NM_000071.3(CBS):c.297C>T (p.Phe99=)
|
rs749697783
|
0.00002
|
NM_000071.3(CBS):c.351C>T (p.Ser117=)
|
rs769149281
|
0.00002
|
NM_000071.3(CBS):c.381T>A (p.Ile127=)
|
rs199824647
|
0.00002
|
NM_000071.3(CBS):c.384G>A (p.Glu128=)
|
rs374593242
|
0.00002
|
NM_000071.3(CBS):c.405G>A (p.Thr135=)
|
rs940663649
|
0.00002
|
NM_000071.3(CBS):c.441C>T (p.Ser147=)
|
rs367669819
|
0.00002
|
NM_000071.3(CBS):c.451+19G>T
|
rs765760722
|
0.00002
|
NM_000071.3(CBS):c.51C>T (p.His17=)
|
rs762239336
|
0.00002
|
NM_000071.3(CBS):c.532-13T>C
|
rs757869040
|
0.00002
|
NM_000071.3(CBS):c.720C>A (p.Ile240=)
|
rs769024492
|
0.00002
|
NM_000071.3(CBS):c.981C>T (p.Asn327=)
|
rs777898632
|
0.00002
|
NM_000108.5(DLD):c.1503G>A (p.Ala501=)
|
rs766286119
|
0.00002
|
NM_000108.5(DLD):c.36C>T (p.Ala12=)
|
rs780127925
|
0.00002
|
NM_000108.5(DLD):c.45C>G (p.Gly15=)
|
rs570539642
|
0.00002
|
NM_000108.5(DLD):c.528A>T (p.Thr176=)
|
rs1391814799
|
0.00002
|
NM_000108.5(DLD):c.597A>T (p.Thr199=)
|
rs768248572
|
0.00002
|
NM_000108.5(DLD):c.684+10G>A
|
rs1345267865
|
0.00002
|
NM_000108.5(DLD):c.735A>G (p.Leu245=)
|
rs754865063
|
0.00002
|
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=)
|
rs368329470
|
0.00002
|
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)
|
rs781986219
|
0.00002
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
|
rs990648341
|
0.00002
|
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=)
|
rs782716787
|
0.00002
|
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=)
|
rs781792950
|
0.00002
|
NM_000126.4(ETFA):c.352-8G>T
|
rs767560884
|
0.00002
|
NM_000126.4(ETFA):c.39+8C>T
|
rs771448257
|
0.00002
|
NM_000126.4(ETFA):c.489G>C (p.Val163=)
|
rs1294335935
|
0.00002
|
NM_000126.4(ETFA):c.734-11T>C
|
rs771704448
|
0.00002
|
NM_000126.4(ETFA):c.882+8T>C
|
rs776847997
|
0.00002
|
NM_000126.4(ETFA):c.882+9A>G
|
rs373161597
|
0.00002
|
NM_000137.4(FAH):c.1125G>A (p.Leu375=)
|
rs573995081
|
0.00002
|
NM_000137.4(FAH):c.315-18C>G
|
rs757360795
|
0.00002
|
NM_000137.4(FAH):c.391C>T (p.Arg131Trp)
|
rs147946196
|
0.00002
|
NM_000137.4(FAH):c.411C>T (p.Val137=)
|
rs757871102
|
0.00002
|
NM_000137.4(FAH):c.60C>A (p.Gly20=)
|
rs749196943
|
0.00002
|
NM_000137.4(FAH):c.666T>C (p.His222=)
|
rs768359308
|
0.00002
|
NM_000137.4(FAH):c.891C>T (p.Ile297=)
|
rs1037374579
|
0.00002
|
NM_000137.4(FAH):c.961-18C>T
|
rs781743677
|
0.00002
|
NM_000137.4(FAH):c.9C>T (p.Phe3=)
|
rs1440066142
|
0.00002
|
NM_000156.6(GAMT):c.102G>T (p.Leu34=)
|
rs780224925
|
0.00002
|
NM_000156.6(GAMT):c.105C>T (p.Arg35=)
|
rs758387003
|
0.00002
|
NM_000156.6(GAMT):c.181+16C>A
|
rs776931007
|
0.00002
|
NM_000156.6(GAMT):c.189G>C (p.Arg63=)
|
rs568392459
|
0.00002
|
NM_000156.6(GAMT):c.219C>T (p.Ile73=)
|
rs1417220310
|
0.00002
|
NM_000156.6(GAMT):c.225G>A (p.Ala75=)
|
rs202151546
|
0.00002
|
NM_000156.6(GAMT):c.486G>A (p.Pro162=)
|
rs368650653
|
0.00002
|
NM_000156.6(GAMT):c.54C>T (p.Pro18=)
|
rs960874258
|
0.00002
|
NM_000156.6(GAMT):c.571-7C>T
|
rs767793408
|
0.00002
|
NM_000156.6(GAMT):c.576G>A (p.Thr192=)
|
rs771099195
|
0.00002
|
NM_000156.6(GAMT):c.642G>A (p.Leu214=)
|
rs746723263
|
0.00002
|
NM_000159.4(GCDH):c.1059C>T (p.Leu353=)
|
rs758606844
|
0.00002
|
NM_000159.4(GCDH):c.1083-10C>T
|
rs756372984
|
0.00002
|
NM_000159.4(GCDH):c.1122C>T (p.Asn374=)
|
rs771733977
|
0.00002
|
NM_000159.4(GCDH):c.1149C>T (p.Arg383=)
|
rs1458766426
|
0.00002
|
NM_000159.4(GCDH):c.1209C>T (p.His403=)
|
rs747746632
|
0.00002
|
NM_000159.4(GCDH):c.1227C>T (p.Ala409=)
|
rs368251933
|
0.00002
|
NM_000159.4(GCDH):c.357G>A (p.Ser119=)
|
rs150674535
|
0.00002
|
NM_000159.4(GCDH):c.420G>T (p.Ala140=)
|
rs1408565185
|
0.00002
|
NM_000159.4(GCDH):c.441C>T (p.Leu147=)
|
rs931207617
|
0.00002
|
NM_000159.4(GCDH):c.54C>T (p.His18=)
|
rs747459082
|
0.00002
|
NM_000159.4(GCDH):c.774C>G (p.Ala258=)
|
rs1305712372
|
0.00002
|
NM_000159.4(GCDH):c.92-14T>C
|
rs185661323
|
0.00002
|
NM_000159.4(GCDH):c.92-7C>T
|
rs538220975
|
0.00002
|
NM_000161.3(GCH1):c.195G>A (p.Glu65=)
|
rs139350456
|
0.00002
|
NM_000161.3(GCH1):c.343+7G>A
|
rs754924703
|
0.00002
|
NM_000161.3(GCH1):c.435G>A (p.Leu145=)
|
rs763677193
|
0.00002
|
NM_000170.3(GLDC):c.1014A>G (p.Glu338=)
|
rs764153656
|
0.00002
|
NM_000170.3(GLDC):c.103C>A (p.Arg35=)
|
rs764400486
|
0.00002
|
NM_000170.3(GLDC):c.1059-13A>C
|
rs774411764
|
0.00002
|
NM_000170.3(GLDC):c.1155+12G>A
|
rs200706904
|
0.00002
|
NM_000170.3(GLDC):c.1161C>T (p.Leu387=)
|
rs781613958
|
0.00002
|
NM_000170.3(GLDC):c.1242C>T (p.Ala414=)
|
rs761471932
|
0.00002
|
NM_000170.3(GLDC):c.1329C>T (p.Gly443=)
|
rs1331638239
|
0.00002
|
NM_000170.3(GLDC):c.147C>T (p.Ala49=)
|
rs994081399
|
0.00002
|
NM_000170.3(GLDC):c.1536G>A (p.Val512=)
|
rs370403481
|
0.00002
|
NM_000170.3(GLDC):c.15C>T (p.Ala5=)
|
rs1217742509
|
0.00002
|
NM_000170.3(GLDC):c.1662A>C (p.Pro554=)
|
rs547588947
|
0.00002
|
NM_000170.3(GLDC):c.1743C>G (p.Pro581=)
|
rs771788026
|
0.00002
|
NM_000170.3(GLDC):c.1787G>A (p.Arg596Gln)
|
rs573132323
|
0.00002
|
NM_000170.3(GLDC):c.1977C>T (p.His659=)
|
rs1402896169
|
0.00002
|
NM_000170.3(GLDC):c.2053-11T>G
|
rs752086205
|
0.00002
|
NM_000170.3(GLDC):c.2203-10T>G
|
rs761374321
|
0.00002
|
NM_000170.3(GLDC):c.2253T>C (p.Asn751=)
|
rs765624698
|
0.00002
|
NM_000170.3(GLDC):c.2289T>C (p.Gly763=)
|
rs749032015
|
0.00002
|
NM_000170.3(GLDC):c.243C>G (p.Thr81=)
|
rs1042575278
|
0.00002
|
NM_000170.3(GLDC):c.2458-11C>T
|
rs778469197
|
0.00002
|
NM_000170.3(GLDC):c.2703G>C (p.Gly901=)
|
rs369767254
|
0.00002
|
NM_000170.3(GLDC):c.2839-16C>T
|
rs776393477
|
0.00002
|
NM_000170.3(GLDC):c.3003C>T (p.Thr1001=)
|
rs975199715
|
0.00002
|
NM_000170.3(GLDC):c.3054G>A (p.Ala1018=)
|
rs749409925
|
0.00002
|
NM_000170.3(GLDC):c.375C>T (p.Ser125=)
|
rs750281192
|
0.00002
|
NM_000170.3(GLDC):c.471-10T>A
|
rs369391624
|
0.00002
|
NM_000170.3(GLDC):c.549G>A (p.Val183=)
|
rs371771891
|
0.00002
|
NM_000170.3(GLDC):c.635+14C>A
|
rs1409018724
|
0.00002
|
NM_000170.3(GLDC):c.777C>G (p.Val259=)
|
rs141980284
|
0.00002
|
NM_000170.3(GLDC):c.807G>A (p.Thr269=)
|
rs374776450
|
0.00002
|
NM_000170.3(GLDC):c.900C>T (p.Cys300=)
|
rs143256976
|
0.00002
|
NM_000182.5(HADHA):c.1089T>C (p.His363=)
|
rs755296795
|
0.00002
|
NM_000182.5(HADHA):c.1353C>T (p.Asp451=)
|
rs770306077
|
0.00002
|
NM_000182.5(HADHA):c.1656G>A (p.Ala552=)
|
rs541069396
|
0.00002
|
NM_000182.5(HADHA):c.1701C>T (p.Asp567=)
|
rs778014305
|
0.00002
|
NM_000182.5(HADHA):c.1794T>C (p.His598=)
|
rs149021400
|
0.00002
|
NM_000182.5(HADHA):c.183A>G (p.Val61=)
|
rs370149021
|
0.00002
|
NM_000182.5(HADHA):c.2133G>A (p.Pro711=)
|
rs186499456
|
0.00002
|
NM_000182.5(HADHA):c.2146+10G>A
|
rs768516891
|
0.00002
|
NM_000182.5(HADHA):c.2147-10C>T
|
rs371667948
|
0.00002
|
NM_000182.5(HADHA):c.9C>T (p.Ala3=)
|
rs1323737552
|
0.00002
|
NM_000187.4(HGD):c.1305T>C (p.Thr435=)
|
rs571129573
|
0.00002
|
NM_000187.4(HGD):c.732G>A (p.Thr244=)
|
rs769516009
|
0.00002
|
NM_000191.3(HMGCL):c.165G>A (p.Val55=)
|
rs1173716795
|
0.00002
|
NM_000191.3(HMGCL):c.168A>G (p.Lys56=)
|
rs1291707271
|
0.00002
|
NM_000191.3(HMGCL):c.324A>G (p.Pro108=)
|
rs932601140
|
0.00002
|
NM_000191.3(HMGCL):c.549T>A (p.Ala183=)
|
rs61743700
|
0.00002
|
NM_000191.3(HMGCL):c.564C>G (p.Val188=)
|
rs779911061
|
0.00002
|
NM_000191.3(HMGCL):c.636G>A (p.Gly212=)
|
rs1471029861
|
0.00002
|
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=)
|
rs765198174
|
0.00002
|
NM_000191.3(HMGCL):c.828G>A (p.Leu276=)
|
rs771024022
|
0.00002
|
NM_000191.3(HMGCL):c.843G>A (p.Leu281=)
|
rs773635833
|
0.00002
|
NM_000191.3(HMGCL):c.877-16A>G
|
rs763250288
|
0.00002
|
NM_000191.3(HMGCL):c.877-7C>T
|
rs750545040
|
0.00002
|
NM_000240.4(MAOA):c.1052+14G>A
|
rs113551306
|
0.00002
|
NM_000240.4(MAOA):c.1262+7C>T
|
rs773216160
|
0.00002
|
NM_000240.4(MAOA):c.255C>G (p.Gly85=)
|
rs1601935224
|
0.00002
|
NM_000240.4(MAOA):c.30G>A (p.Ala10=)
|
rs1347324620
|
0.00002
|
NM_000240.4(MAOA):c.681C>T (p.Ser227=)
|
rs758225239
|
0.00002
|
NM_000254.3(MTR):c.1395G>A (p.Gly465=)
|
rs372015549
|
0.00002
|
NM_000254.3(MTR):c.1434G>A (p.Glu478=)
|
rs747176647
|
0.00002
|
NM_000254.3(MTR):c.1953+7A>G
|
rs777871271
|
0.00002
|
NM_000254.3(MTR):c.2109A>G (p.Arg703=)
|
rs565935347
|
0.00002
|
NM_000254.3(MTR):c.259C>T (p.Leu87=)
|
rs751808381
|
0.00002
|
NM_000254.3(MTR):c.2775+17G>T
|
rs763995449
|
0.00002
|
NM_000254.3(MTR):c.2910G>A (p.Val970=)
|
rs769690083
|
0.00002
|
NM_000254.3(MTR):c.339+19C>T
|
rs199843808
|
0.00002
|
NM_000254.3(MTR):c.3598+15G>A
|
rs754129736
|
0.00002
|
NM_000254.3(MTR):c.486G>A (p.Pro162=)
|
rs747494979
|
0.00002
|
NM_000254.3(MTR):c.711C>T (p.Ser237=)
|
rs775774568
|
0.00002
|
NM_000274.4(OAT):c.1014+17C>T
|
rs759429643
|
0.00002
|
NM_000274.4(OAT):c.1245G>A (p.Ala415=)
|
rs751449034
|
0.00002
|
NM_000274.4(OAT):c.184C>T (p.Leu62=)
|
rs776832915
|
0.00002
|
NM_000274.4(OAT):c.477C>T (p.Thr159=)
|
rs575839041
|
0.00002
|
NM_000274.4(OAT):c.643C>T (p.Leu215=)
|
rs111616939
|
0.00002
|
NM_000274.4(OAT):c.771+8C>T
|
rs113532454
|
0.00002
|
NM_000274.4(OAT):c.771+9G>C
|
rs756798690
|
0.00002
|
NM_000274.4(OAT):c.816T>C (p.Thr272=)
|
rs778561122
|
0.00002
|
NM_000274.4(OAT):c.900+15C>T
|
rs369658048
|
0.00002
|
NM_000274.4(OAT):c.996G>A (p.Val332=)
|
rs768045594
|
0.00002
|
NM_000276.4(OCRL):c.1320T>G (p.Asn440Lys)
|
rs761140161
|
0.00002
|
NM_000276.4(OCRL):c.1336A>G (p.Arg446Gly)
|
rs771429717
|
0.00002
|
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)
|
rs748186190
|
0.00002
|
NM_000276.4(OCRL):c.2244C>T (p.Tyr748=)
|
rs781297236
|
0.00002
|
NM_000276.4(OCRL):c.2282T>G (p.Met761Arg)
|
rs1336177262
|
0.00002
|
NM_000276.4(OCRL):c.561-13A>G
|
rs773509037
|
0.00002
|
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg)
|
rs1388273402
|
0.00002
|
NM_000276.4(OCRL):c.963G>A (p.Gly321=)
|
rs763484849
|
0.00002
|
NM_000277.3(PAH):c.1066-4A>G
|
rs757320744
|
0.00002
|
NM_000277.3(PAH):c.1098C>A (p.Pro366=)
|
rs776159017
|
0.00002
|
NM_000277.3(PAH):c.12G>A (p.Ala4=)
|
rs536605300
|
0.00002
|
NM_000277.3(PAH):c.441+15C>T
|
rs187133779
|
0.00002
|
NM_000277.3(PAH):c.441+9A>G
|
rs756060157
|
0.00002
|
NM_000277.3(PAH):c.442-14C>T
|
rs775806999
|
0.00002
|
NM_000277.3(PAH):c.642A>G (p.Glu214=)
|
rs373782868
|
0.00002
|
NM_000277.3(PAH):c.861G>A (p.Leu287=)
|
rs754686336
|
0.00002
|
NM_000277.3(PAH):c.870T>C (p.His290=)
|
rs751203209
|
0.00002
|
NM_000282.4(PCCA):c.1285-4C>T
|
rs372262089
|
0.00002
|
NM_000282.4(PCCA):c.1540+11A>G
|
rs374671328
|
0.00002
|
NM_000282.4(PCCA):c.1693T>C (p.Leu565=)
|
rs767365284
|
0.00002
|
NM_000282.4(PCCA):c.1747-8dup
|
rs753595587
|
0.00002
|
NM_000282.4(PCCA):c.183+18A>G
|
rs746021444
|
0.00002
|
NM_000282.4(PCCA):c.1988G>A (p.Arg663His)
|
rs780042764
|
0.00002
|
NM_000282.4(PCCA):c.2112T>C (p.Thr704=)
|
rs765451633
|
0.00002
|
NM_000282.4(PCCA):c.318G>A (p.Ala106=)
|
rs752769607
|
0.00002
|
NM_000282.4(PCCA):c.469-6C>T
|
rs1411689584
|
0.00002
|
NM_000282.4(PCCA):c.638-5G>A
|
rs764316702
|
0.00002
|
NM_000317.3(PTS):c.186+9A>G
|
rs202139885
|
0.00002
|
NM_000317.3(PTS):c.192C>T (p.Asp64=)
|
rs201156784
|
0.00002
|
NM_000320.3(QDPR):c.534C>T (p.Ile178=)
|
rs767857309
|
0.00002
|
NM_000320.3(QDPR):c.624A>G (p.Leu208=)
|
rs757533596
|
0.00002
|
NM_000329.3(RPE65):c.1243+10T>C
|
rs548537552
|
0.00002
|
NM_000329.3(RPE65):c.1431T>C (p.Asp477=)
|
rs570518981
|
0.00002
|
NM_000329.3(RPE65):c.1473G>C (p.Val491=)
|
rs748413171
|
0.00002
|
NM_000329.3(RPE65):c.1575C>T (p.Thr525=)
|
rs145318478
|
0.00002
|
NM_000329.3(RPE65):c.165G>A (p.Glu55=)
|
rs375272714
|
0.00002
|
NM_000329.3(RPE65):c.353+7G>A
|
rs773557127
|
0.00002
|
NM_000329.3(RPE65):c.402T>C (p.Val134=)
|
rs1467212381
|
0.00002
|
NM_000329.3(RPE65):c.496-5C>T
|
rs769548166
|
0.00002
|
NM_000329.3(RPE65):c.564C>T (p.Thr188=)
|
rs764476046
|
0.00002
|
NM_000329.3(RPE65):c.621A>G (p.Val207=)
|
rs746032112
|
0.00002
|
NM_000329.3(RPE65):c.747T>C (p.Tyr249=)
|
rs764888162
|
0.00002
|
NM_000329.3(RPE65):c.807T>C (p.Ser269=)
|
rs774896870
|
0.00002
|
NM_000329.3(RPE65):c.825C>T (p.Tyr275=)
|
rs988133284
|
0.00002
|
NM_000353.3(TAT):c.1008A>G (p.Gly336=)
|
rs377685329
|
0.00002
|
NM_000353.3(TAT):c.324C>T (p.Gly108=)
|
rs1400528245
|
0.00002
|
NM_000353.3(TAT):c.411C>T (p.Asp137=)
|
rs757380584
|
0.00002
|
NM_000353.3(TAT):c.528T>C (p.Ala176=)
|
rs774778427
|
0.00002
|
NM_000353.3(TAT):c.660C>T (p.Pro220=)
|
rs1404599153
|
0.00002
|
NM_000353.3(TAT):c.759+8T>A
|
rs761791218
|
0.00002
|
NM_000353.3(TAT):c.84C>T (p.Ser28=)
|
rs184872582
|
0.00002
|
NM_000360.4(TH):c.1047+10G>A
|
rs747505017
|
0.00002
|
NM_000360.4(TH):c.1047+8G>A
|
rs1399106612
|
0.00002
|
NM_000360.4(TH):c.1050C>T (p.Asp350=)
|
rs1421783815
|
0.00002
|
NM_000360.4(TH):c.1105-7C>T
|
rs374133473
|
0.00002
|
NM_000360.4(TH):c.1320C>T (p.Ala440=)
|
rs1301464480
|
0.00002
|
NM_000360.4(TH):c.1335-9C>G
|
rs910277713
|
0.00002
|
NM_000360.4(TH):c.1377C>T (p.Phe459=)
|
rs575305786
|
0.00002
|
NM_000360.4(TH):c.1422C>T (p.Ala474=)
|
rs375735482
|
0.00002
|
NM_000360.4(TH):c.216C>T (p.Ala72=)
|
rs773288225
|
0.00002
|
NM_000360.4(TH):c.288G>C (p.Leu96=)
|
rs151082354
|
0.00002
|
NM_000360.4(TH):c.313-15C>T
|
rs1298110996
|
0.00002
|
NM_000360.4(TH):c.351C>T (p.Pro117=)
|
rs764429855
|
0.00002
|
NM_000360.4(TH):c.360G>A (p.Arg120=)
|
rs761868828
|
0.00002
|
NM_000360.4(TH):c.414A>C (p.Arg138=)
|
rs528105731
|
0.00002
|
NM_000360.4(TH):c.426C>T (p.Ala142=)
|
rs200598308
|
0.00002
|
NM_000360.4(TH):c.534C>T (p.His178=)
|
rs965288727
|
0.00002
|
NM_000360.4(TH):c.576+11C>T
|
rs770003580
|
0.00002
|
NM_000360.4(TH):c.576+12G>A
|
rs550221603
|
0.00002
|
NM_000360.4(TH):c.600C>T (p.Arg200=)
|
rs748661920
|
0.00002
|
NM_000360.4(TH):c.729C>T (p.Tyr243=)
|
rs878855308
|
0.00002
|
NM_000360.4(TH):c.900G>A (p.Leu300=)
|
rs971671588
|
0.00002
|
NM_000360.4(TH):c.977+10C>T
|
rs370829131
|
0.00002
|
NM_000360.4(TH):c.978-10C>T
|
rs752258129
|
0.00002
|
NM_000360.4(TH):c.978-7C>T
|
rs778560407
|
0.00002
|
NM_000387.6(SLC25A20):c.195A>G (p.Arg65=)
|
rs776205534
|
0.00002
|
NM_000387.6(SLC25A20):c.608+12A>G
|
rs773824427
|
0.00002
|
NM_000387.6(SLC25A20):c.719-10T>C
|
rs769684089
|
0.00002
|
NM_000387.6(SLC25A20):c.894C>A (p.Thr298=)
|
rs766966542
|
0.00002
|
NM_000481.4(AMT):c.43C>T (p.Leu15=)
|
rs775112005
|
0.00002
|
NM_000481.4(AMT):c.522G>T (p.Val174=)
|
rs768025952
|
0.00002
|
NM_000481.4(AMT):c.657C>T (p.Arg219=)
|
rs976237396
|
0.00002
|
NM_000481.4(AMT):c.78T>C (p.Leu26=)
|
rs764624214
|
0.00002
|
NM_000531.6(OTC):c.216+9C>T
|
rs774764719
|
0.00002
|
NM_000531.6(OTC):c.375G>A (p.Thr125=)
|
rs371075231
|
0.00002
|
NM_000531.6(OTC):c.380C>T (p.Thr127Met)
|
rs762910963
|
0.00002
|
NM_000531.6(OTC):c.403G>A (p.Ala135Thr)
|
rs770910923
|
0.00002
|
NM_000531.6(OTC):c.762G>T (p.Ala254=)
|
rs1388386866
|
0.00002
|
NM_000531.6(OTC):c.764A>G (p.His255Arg)
|
rs72558440
|
0.00002
|
NM_000531.6(OTC):c.906C>T (p.His302=)
|
rs67870244
|
0.00002
|
NM_000532.5(PCCB):c.1090+18T>C
|
rs775309894
|
0.00002
|
NM_000532.5(PCCB):c.1091-4C>G
|
rs759283485
|
0.00002
|
NM_000532.5(PCCB):c.12A>G (p.Ala4=)
|
rs1476876445
|
0.00002
|
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=)
|
rs199541514
|
0.00002
|
NM_000532.5(PCCB):c.1338C>T (p.His446=)
|
rs958149789
|
0.00002
|
NM_000532.5(PCCB):c.1499-14C>T
|
rs369168852
|
0.00002
|
NM_000532.5(PCCB):c.24G>T (p.Ala8=)
|
rs1057523611
|
0.00002
|
NM_000532.5(PCCB):c.30C>T (p.Val10=)
|
rs754303318
|
0.00002
|
NM_000532.5(PCCB):c.318C>T (p.Ser106=)
|
rs767388070
|
0.00002
|
NM_000532.5(PCCB):c.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
NM_000532.5(PCCB):c.480C>T (p.Asp160=)
|
rs1454839953
|
0.00002
|
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)
|
rs549397464
|
0.00002
|
NM_000532.5(PCCB):c.939C>T (p.Ala313=)
|
rs369008776
|
0.00002
|
NM_000532.5(PCCB):c.945C>T (p.Asn315=)
|
rs766185451
|
0.00002
|
NM_000532.5(PCCB):c.996C>T (p.Ile332=)
|
rs773854246
|
0.00002
|
NM_000554.6(CRX):c.21G>A (p.Pro7=)
|
rs772745666
|
0.00002
|
NM_000554.6(CRX):c.252+8G>C
|
rs773348946
|
0.00002
|
NM_000554.6(CRX):c.253-16C>T
|
rs372605680
|
0.00002
|
NM_000554.6(CRX):c.594C>T (p.Ala198=)
|
rs1186532132
|
0.00002
|
NM_000554.6(CRX):c.747C>G (p.Ser249=)
|
rs748748807
|
0.00002
|
NM_000687.4(AHCY):c.1168-16C>T
|
rs776065604
|
0.00002
|
NM_000709.4(BCKDHA):c.126G>A (p.Gln42=)
|
rs770845165
|
0.00002
|
NM_000709.4(BCKDHA):c.1286G>A (p.Arg429His)
|
rs143065803
|
0.00002
|
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=)
|
rs398123491
|
0.00002
|
NM_000709.4(BCKDHA):c.1320G>A (p.Leu440=)
|
rs771396248
|
0.00002
|
NM_000709.4(BCKDHA):c.339C>T (p.Asn113=)
|
rs747299996
|
0.00002
|
NM_000709.4(BCKDHA):c.528C>A (p.Ala176=)
|
rs755611354
|
0.00002
|
NM_000709.4(BCKDHA):c.585C>T (p.Tyr195=)
|
rs575806482
|
0.00002
|
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=)
|
rs772457864
|
0.00002
|
NM_000709.4(BCKDHA):c.915C>T (p.Ala305=)
|
rs748919780
|
0.00002
|
NM_000709.4(BCKDHA):c.927C>T (p.Ala309=)
|
rs763842430
|
0.00002
|
NM_000709.4(BCKDHA):c.996-10C>T
|
rs748005370
|
0.00002
|
NM_001002755.4(NFU1):c.528G>A (p.Leu176=)
|
rs368931176
|
0.00002
|
NM_001010867.4(IBA57):c.138G>C (p.Ala46=)
|
rs1037373507
|
0.00002
|
NM_001024845.3(SLC6A9):c.1200+17G>A
|
rs199559219
|
0.00002
|
NM_001024845.3(SLC6A9):c.1662C>T (p.Tyr554=)
|
rs145370858
|
0.00002
|
NM_001024845.3(SLC6A9):c.1845G>A (p.Ala615=)
|
rs201082592
|
0.00002
|
NM_001024845.3(SLC6A9):c.273A>T (p.Ala91=)
|
rs1291297446
|
0.00002
|
NM_001080.3(ALDH5A1):c.1014+7C>A
|
rs1759660737
|
0.00002
|
NM_001080.3(ALDH5A1):c.1173+12G>A
|
rs1178556679
|
0.00002
|
NM_001080.3(ALDH5A1):c.1173+18T>C
|
rs775059292
|
0.00002
|
NM_001080.3(ALDH5A1):c.1188G>A (p.Val396=)
|
rs534575798
|
0.00002
|
NM_001080.3(ALDH5A1):c.1299G>C (p.Leu433=)
|
rs781629841
|
0.00002
|
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=)
|
rs771829991
|
0.00002
|
NM_001080.3(ALDH5A1):c.1343+8C>T
|
rs775916984
|
0.00002
|
NM_001080.3(ALDH5A1):c.1347C>T (p.Phe449=)
|
rs192771358
|
0.00002
|
NM_001080.3(ALDH5A1):c.1506C>T (p.Cys502=)
|
rs200605419
|
0.00002
|
NM_001080.3(ALDH5A1):c.318C>T (p.Tyr106=)
|
rs985818920
|
0.00002
|
NM_001080.3(ALDH5A1):c.51G>A (p.Ser17=)
|
rs756763728
|
0.00002
|
NM_001080.3(ALDH5A1):c.609+9C>G
|
rs369980939
|
0.00002
|
NM_001080.3(ALDH5A1):c.690C>T (p.Ala230=)
|
rs544724128
|
0.00002
|
NM_001080.3(ALDH5A1):c.708C>T (p.Ser236=)
|
rs771725195
|
0.00002
|
NM_001080.3(ALDH5A1):c.726+7C>T
|
rs376318673
|
0.00002
|
NM_001080.3(ALDH5A1):c.75C>T (p.Arg25=)
|
rs755799999
|
0.00002
|
NM_001080.3(ALDH5A1):c.871-13C>T
|
rs778951931
|
0.00002
|
NM_001080.3(ALDH5A1):c.960C>T (p.Asn320=)
|
rs781439143
|
0.00002
|
NM_001127222.2(CACNA1A):c.1083-11T>C
|
rs777235021
|
0.00002
|
NM_001127222.2(CACNA1A):c.1246C>G (p.Pro416Ala)
|
rs371138043
|
0.00002
|
NM_001127222.2(CACNA1A):c.1248C>G (p.Pro416=)
|
rs1158411031
|
0.00002
|
NM_001127222.2(CACNA1A):c.1256-9T>C
|
rs758786727
|
0.00002
|
NM_001127222.2(CACNA1A):c.1356C>T (p.Phe452=)
|
rs41276888
|
0.00002
|
NM_001127222.2(CACNA1A):c.1513A>G (p.Ile505Val)
|
rs750557478
|
0.00002
|
NM_001127222.2(CACNA1A):c.1716T>C (p.Pro572=)
|
rs923412087
|
0.00002
|
NM_001127222.2(CACNA1A):c.1737C>T (p.Ser579=)
|
rs371161901
|
0.00002
|
NM_001127222.2(CACNA1A):c.1881C>T (p.Phe627=)
|
rs371268760
|
0.00002
|
NM_001127222.2(CACNA1A):c.2256C>T (p.Ser752=)
|
rs764816582
|
0.00002
|
NM_001127222.2(CACNA1A):c.2280-16G>A
|
rs759745350
|
0.00002
|
NM_001127222.2(CACNA1A):c.2377C>T (p.Leu793=)
|
rs759875039
|
0.00002
|
NM_001127222.2(CACNA1A):c.2434C>T (p.Arg812Trp)
|
rs369084322
|
0.00002
|
NM_001127222.2(CACNA1A):c.2483A>G (p.Gln828Arg)
|
rs753196787
|
0.00002
|
NM_001127222.2(CACNA1A):c.2532C>T (p.Thr844=)
|
rs761929729
|
0.00002
|
NM_001127222.2(CACNA1A):c.2729T>G (p.Leu910Arg)
|
rs953766694
|
0.00002
|
NM_001127222.2(CACNA1A):c.285C>T (p.Thr95=)
|
rs758206206
|
0.00002
|
NM_001127222.2(CACNA1A):c.2889G>A (p.Arg963=)
|
rs1390620211
|
0.00002
|
NM_001127222.2(CACNA1A):c.2963G>A (p.Gly988Asp)
|
rs1271411894
|
0.00002
|
NM_001127222.2(CACNA1A):c.3045G>A (p.Gly1015=)
|
rs1400869068
|
0.00002
|
NM_001127222.2(CACNA1A):c.3078T>A (p.His1026Gln)
|
rs1202322408
|
0.00002
|
NM_001127222.2(CACNA1A):c.3089+16C>T
|
rs897924558
|
0.00002
|
NM_001127222.2(CACNA1A):c.3178C>T (p.Pro1060Ser)
|
rs969592968
|
0.00002
|
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=)
|
rs373678395
|
0.00002
|
NM_001127222.2(CACNA1A):c.3264C>T (p.Ala1088=)
|
rs916089734
|
0.00002
|
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)
|
rs762006290
|
0.00002
|
NM_001127222.2(CACNA1A):c.3420C>T (p.Pro1140=)
|
rs542849275
|
0.00002
|
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys)
|
rs780535727
|
0.00002
|
NM_001127222.2(CACNA1A):c.3426T>C (p.Asn1142=)
|
rs1326349920
|
0.00002
|
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile)
|
rs376365775
|
0.00002
|
NM_001127222.2(CACNA1A):c.3786C>T (p.Ala1262=)
|
rs572832442
|
0.00002
|
NM_001127222.2(CACNA1A):c.3883-20C>T
|
rs769443982
|
0.00002
|
NM_001127222.2(CACNA1A):c.4173C>T (p.Ala1391=)
|
rs371589326
|
0.00002
|
NM_001127222.2(CACNA1A):c.4251-19T>A
|
rs763689584
|
0.00002
|
NM_001127222.2(CACNA1A):c.4251-4G>A
|
rs201785699
|
0.00002
|
NM_001127222.2(CACNA1A):c.4440C>T (p.Pro1480=)
|
rs756711282
|
0.00002
|
NM_001127222.2(CACNA1A):c.4530C>T (p.Ile1510=)
|
rs371060261
|
0.00002
|
NM_001127222.2(CACNA1A):c.4591-4G>A
|
rs370348070
|
0.00002
|
NM_001127222.2(CACNA1A):c.4608C>T (p.Phe1536=)
|
rs760679421
|
0.00002
|
NM_001127222.2(CACNA1A):c.4617C>T (p.Ser1539=)
|
rs1051975
|
0.00002
|
NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu)
|
rs182161386
|
0.00002
|
NM_001127222.2(CACNA1A):c.4695G>A (p.Pro1565=)
|
rs753924411
|
0.00002
|
NM_001127222.2(CACNA1A):c.4772T>C (p.Val1591Ala)
|
rs770150171
|
0.00002
|
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)
|
rs758409135
|
0.00002
|
NM_001127222.2(CACNA1A):c.5158G>A (p.Val1720Met)
|
rs537982877
|
0.00002
|
NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=)
|
rs200501726
|
0.00002
|
NM_001127222.2(CACNA1A):c.539+12G>A
|
rs148855231
|
0.00002
|
NM_001127222.2(CACNA1A):c.540-20T>C
|
rs756413933
|
0.00002
|
NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=)
|
rs750338421
|
0.00002
|
NM_001127222.2(CACNA1A):c.5731+20G>A
|
rs774752183
|
0.00002
|
NM_001127222.2(CACNA1A):c.5732-20T>C
|
rs1425639727
|
0.00002
|
NM_001127222.2(CACNA1A):c.5839+15C>T
|
rs756095565
|
0.00002
|
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=)
|
rs368203745
|
0.00002
|
NM_001127222.2(CACNA1A):c.5979G>A (p.Pro1993=)
|
rs540390772
|
0.00002
|
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala)
|
rs141963371
|
0.00002
|
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)
|
rs374063403
|
0.00002
|
NM_001127222.2(CACNA1A):c.6101G>A (p.Arg2034His)
|
rs369555957
|
0.00002
|
NM_001127222.2(CACNA1A):c.6229G>A (p.Asp2077Asn)
|
rs757223826
|
0.00002
|
NM_001127222.2(CACNA1A):c.6340-7C>A
|
rs765609971
|
0.00002
|
NM_001127222.2(CACNA1A):c.6346T>G (p.Ser2116Ala)
|
rs576057388
|
0.00002
|
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro)
|
rs1220294928
|
0.00002
|
NM_001127222.2(CACNA1A):c.6408C>T (p.Asp2136=)
|
rs779701046
|
0.00002
|
NM_001127222.2(CACNA1A):c.6451C>T (p.His2151Tyr)
|
rs1005361810
|
0.00002
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His)
|
rs755749925
|
0.00002
|
NM_001127222.2(CACNA1A):c.6472C>T (p.Arg2158Cys)
|
rs774289573
|
0.00002
|
NM_001127222.2(CACNA1A):c.6482G>A (p.Arg2161His)
|
rs769503871
|
0.00002
|
NM_001127222.2(CACNA1A):c.6513C>T (p.Thr2171=)
|
rs756597852
|
0.00002
|
NM_001127222.2(CACNA1A):c.6526+10C>A
|
rs1425384815
|
0.00002
|
NM_001127222.2(CACNA1A):c.6526+7A>G
|
rs972428713
|
0.00002
|
NM_001127222.2(CACNA1A):c.6662C>T (p.Pro2221Leu)
|
rs778551911
|
0.00002
|
NM_001127222.2(CACNA1A):c.6781-6G>A
|
rs757167417
|
0.00002
|
NM_001243279.3(ACSF3):c.1203C>T (p.Tyr401=)
|
rs776003939
|
0.00002
|
NM_001243279.3(ACSF3):c.1266G>A (p.Glu422=)
|
rs150322170
|
0.00002
|
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)
|
rs747338200
|
0.00002
|
NM_001243279.3(ACSF3):c.294C>G (p.Val98=)
|
rs1439239345
|
0.00002
|
NM_001243279.3(ACSF3):c.366A>G (p.Ala122=)
|
rs749371364
|
0.00002
|
NM_001243279.3(ACSF3):c.480C>T (p.Val160=)
|
rs375671065
|
0.00002
|
NM_001243279.3(ACSF3):c.558G>A (p.Pro186=)
|
rs756599875
|
0.00002
|
NM_001243279.3(ACSF3):c.645G>A (p.Thr215=)
|
rs772996642
|
0.00002
|
NM_001243279.3(ACSF3):c.667-7C>T
|
rs770578916
|
0.00002
|
NM_001243279.3(ACSF3):c.912C>T (p.Tyr304=)
|
rs753810945
|
0.00002
|
NM_001243279.3(ACSF3):c.978-5C>T
|
rs767914459
|
0.00002
|
NM_001258392.3(CLPB):c.1786-6C>T
|
rs191389918
|
0.00002
|
NM_001271.4(CHD2):c.1161G>A (p.Lys387=)
|
rs756485685
|
0.00002
|
NM_001271.4(CHD2):c.1215G>A (p.Pro405=)
|
rs144294063
|
0.00002
|
NM_001271.4(CHD2):c.1242A>G (p.Leu414=)
|
rs749255095
|
0.00002
|
NM_001271.4(CHD2):c.2091T>A (p.Leu697=)
|
rs770949083
|
0.00002
|
NM_001271.4(CHD2):c.225C>G (p.Ser75=)
|
rs144667627
|
0.00002
|
NM_001271.4(CHD2):c.2395C>T (p.Leu799=)
|
rs369618673
|
0.00002
|
NM_001271.4(CHD2):c.2565A>G (p.Ala855=)
|
rs892314237
|
0.00002
|
NM_001271.4(CHD2):c.2577+20G>C
|
rs771629875
|
0.00002
|
NM_001271.4(CHD2):c.2757G>A (p.Gly919=)
|
rs754006955
|
0.00002
|
NM_001271.4(CHD2):c.2974-16G>C
|
rs990532473
|
0.00002
|
NM_001271.4(CHD2):c.3744A>G (p.Leu1248=)
|
rs778897064
|
0.00002
|
NM_001271.4(CHD2):c.4034G>C (p.Arg1345Pro)
|
rs751507887
|
0.00002
|
NM_001271.4(CHD2):c.4098T>G (p.Pro1366=)
|
rs1478793992
|
0.00002
|
NM_001271.4(CHD2):c.4165A>C (p.Lys1389Gln)
|
rs762950368
|
0.00002
|
NM_001271.4(CHD2):c.4592+20C>G
|
rs377002260
|
0.00002
|
NM_001271.4(CHD2):c.4599A>G (p.Leu1533=)
|
rs150640503
|
0.00002
|
NM_001271.4(CHD2):c.4668T>C (p.His1556=)
|
rs749555682
|
0.00002
|
NM_001271.4(CHD2):c.4693-19G>A
|
rs764154165
|
0.00002
|
NM_001271.4(CHD2):c.4710C>T (p.Asp1570=)
|
rs756273030
|
0.00002
|
NM_001271.4(CHD2):c.4764G>A (p.Arg1588=)
|
rs762849098
|
0.00002
|
NM_001271.4(CHD2):c.4832C>T (p.Ser1611Phe)
|
rs893203290
|
0.00002
|
NM_001271.4(CHD2):c.4941C>T (p.Asn1647=)
|
rs1161487399
|
0.00002
|
NM_001271.4(CHD2):c.5073C>T (p.Pro1691=)
|
rs754504518
|
0.00002
|
NM_001271.4(CHD2):c.5154-13A>G
|
rs747116554
|
0.00002
|
NM_001271.4(CHD2):c.5229A>G (p.Arg1743=)
|
rs773814385
|
0.00002
|
NM_001271.4(CHD2):c.5370C>T (p.Pro1790=)
|
rs756324303
|
0.00002
|
NM_001271.4(CHD2):c.5391C>T (p.His1797=)
|
rs755395580
|
0.00002
|
NM_001271.4(CHD2):c.63-15C>G
|
rs372471036
|
0.00002
|
NM_001271.4(CHD2):c.699A>G (p.Lys233=)
|
rs201178956
|
0.00002
|
NM_001271.4(CHD2):c.827-17A>T
|
rs765907918
|
0.00002
|
NM_001271.4(CHD2):c.843T>C (p.Thr281=)
|
rs752429913
|
0.00002
|
NM_001271.4(CHD2):c.87G>A (p.Ser29=)
|
rs560296130
|
0.00002
|
NM_001278293.3(ARL6):c.185+9C>T
|
rs768962345
|
0.00002
|
NM_001278293.3(ARL6):c.479+7T>C
|
rs924315465
|
0.00002
|
NM_001352514.2(HLCS):c.1290C>T (p.Ser430=)
|
rs1472760580
|
0.00002
|
NM_001352514.2(HLCS):c.1341C>T (p.Pro447=)
|
rs543680851
|
0.00002
|
NM_001352514.2(HLCS):c.1548A>G (p.Thr516=)
|
rs144016759
|
0.00002
|
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=)
|
rs776800808
|
0.00002
|
NM_001352514.2(HLCS):c.2130C>T (p.Asn710=)
|
rs748819971
|
0.00002
|
NM_001352514.2(HLCS):c.2237-12G>C
|
rs1487390204
|
0.00002
|
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=)
|
rs760265551
|
0.00002
|
NM_001352514.2(HLCS):c.2349C>T (p.Leu783=)
|
rs138952612
|
0.00002
|
NM_001352514.2(HLCS):c.477A>C (p.Val159=)
|
rs779019472
|
0.00002
|
NM_001352514.2(HLCS):c.519G>C (p.Leu173=)
|
rs142669894
|
0.00002
|
NM_001370658.1(BTD):c.-17+11G>A
|
rs563797222
|
0.00002
|
NM_001370658.1(BTD):c.1311G>A (p.Val437=)
|
rs753880468
|
0.00002
|
NM_001370658.1(BTD):c.1425C>A (p.Ile475=)
|
rs780182371
|
0.00002
|
NM_001370658.1(BTD):c.183G>A (p.Glu61=)
|
rs753816877
|
0.00002
|
NM_001370658.1(BTD):c.288T>C (p.His96=)
|
rs1261536776
|
0.00002
|
NM_001370658.1(BTD):c.534C>T (p.Val178=)
|
rs757159632
|
0.00002
|
NM_001370658.1(BTD):c.723C>T (p.Tyr241=)
|
rs372687866
|
0.00002
|
NM_001370658.1(BTD):c.741G>A (p.Val247=)
|
rs552436982
|
0.00002
|
NM_001370658.1(BTD):c.852A>G (p.Pro284=)
|
rs778024234
|
0.00002
|
NM_001370658.1(BTD):c.972C>T (p.Leu324=)
|
rs117806438
|
0.00002
|
NM_001482.3(GATM):c.270G>A (p.Pro90=)
|
rs923654745
|
0.00002
|
NM_001482.3(GATM):c.408G>A (p.Thr136=)
|
rs765074779
|
0.00002
|
NM_001482.3(GATM):c.582A>G (p.Arg194=)
|
rs181118920
|
0.00002
|
NM_001482.3(GATM):c.885C>A (p.Ser295=)
|
rs3210029
|
0.00002
|
NM_001482.3(GATM):c.921C>T (p.Thr307=)
|
rs778783157
|
0.00002
|
NM_001609.4(ACADSB):c.915G>A (p.Ala305=)
|
rs371907721
|
0.00002
|
NM_001698.3(AUH):c.198C>T (p.Gly66=)
|
rs1268067238
|
0.00002
|
NM_001698.3(AUH):c.263-11C>T
|
rs759369259
|
0.00002
|
NM_001698.3(AUH):c.655+15C>T
|
rs781269099
|
0.00002
|
NM_001698.3(AUH):c.655+7G>A
|
rs748099966
|
0.00002
|
NM_001739.2(CA5A):c.340+16G>A
|
rs1278259154
|
0.00002
|
NM_001739.2(CA5A):c.340+7G>A
|
rs1319117167
|
0.00002
|
NM_001739.2(CA5A):c.444C>T (p.His148=)
|
rs575569678
|
0.00002
|
NM_001739.2(CA5A):c.849A>G (p.Pro283=)
|
rs764416139
|
0.00002
|
NM_001875.5(CPS1):c.1275C>T (p.Val425=)
|
rs202149657
|
0.00002
|
NM_001875.5(CPS1):c.1425C>T (p.Gly475=)
|
rs764341671
|
0.00002
|
NM_001875.5(CPS1):c.1550-5T>C
|
rs779060657
|
0.00002
|
NM_001875.5(CPS1):c.2256C>T (p.Asn752=)
|
rs770788292
|
0.00002
|
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser)
|
rs750006303
|
0.00002
|
NM_001875.5(CPS1):c.2892T>A (p.Gly964=)
|
rs770984739
|
0.00002
|
NM_001875.5(CPS1):c.3030G>A (p.Thr1010=)
|
rs372027160
|
0.00002
|
NM_001875.5(CPS1):c.3954G>A (p.Leu1318=)
|
rs1447002867
|
0.00002
|
NM_001875.5(CPS1):c.4023T>C (p.Gly1341=)
|
rs1324553117
|
0.00002
|
NM_001875.5(CPS1):c.4047A>G (p.Ala1349=)
|
rs772642343
|
0.00002
|
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala)
|
rs747085519
|
0.00002
|
NM_001875.5(CPS1):c.764A>C (p.Glu255Ala)
|
rs780006153
|
0.00002
|
NM_001875.5(CPS1):c.841-8del
|
rs745402454
|
0.00002
|
NM_001875.5(CPS1):c.84A>G (p.Lys28=)
|
rs574128765
|
0.00002
|
NM_001875.5(CPS1):c.883A>G (p.Thr295Ala)
|
rs143608594
|
0.00002
|
NM_001876.4(CPT1A):c.123G>A (p.Lys41=)
|
rs1246674324
|
0.00002
|
NM_001876.4(CPT1A):c.1245G>A (p.Ala415=)
|
rs750166396
|
0.00002
|
NM_001876.4(CPT1A):c.1257G>A (p.Thr419=)
|
rs764443409
|
0.00002
|
NM_001876.4(CPT1A):c.1317C>T (p.Tyr439=)
|
rs140332936
|
0.00002
|
NM_001876.4(CPT1A):c.1335C>T (p.His445=)
|
rs768418242
|
0.00002
|
NM_001876.4(CPT1A):c.1410C>T (p.Asn470=)
|
rs762915863
|
0.00002
|
NM_001876.4(CPT1A):c.1434G>A (p.Ala478=)
|
rs572938737
|
0.00002
|
NM_001876.4(CPT1A):c.1530G>A (p.Pro510=)
|
rs141303589
|
0.00002
|
NM_001876.4(CPT1A):c.1563C>T (p.Asp521=)
|
rs757551678
|
0.00002
|
NM_001876.4(CPT1A):c.1650A>G (p.Pro550=)
|
rs771639556
|
0.00002
|
NM_001876.4(CPT1A):c.1719C>T (p.Ala573=)
|
rs377681307
|
0.00002
|
NM_001876.4(CPT1A):c.1728G>A (p.Leu576=)
|
rs751342542
|
0.00002
|
NM_001876.4(CPT1A):c.1741-15C>T
|
rs754694654
|
0.00002
|
NM_001876.4(CPT1A):c.1788C>T (p.Leu596=)
|
rs962860616
|
0.00002
|
NM_001876.4(CPT1A):c.1848G>A (p.Val616=)
|
rs764482477
|
0.00002
|
NM_001876.4(CPT1A):c.1851G>A (p.Arg617=)
|
rs775639278
|
0.00002
|
NM_001876.4(CPT1A):c.1903T>C (p.Leu635=)
|
rs372215145
|
0.00002
|
NM_001876.4(CPT1A):c.303G>A (p.Thr101=)
|
rs553777167
|
0.00002
|
NM_001876.4(CPT1A):c.318C>T (p.Ser106=)
|
rs761199292
|
0.00002
|
NM_001876.4(CPT1A):c.420C>T (p.His140=)
|
rs762136749
|
0.00002
|
NM_001876.4(CPT1A):c.432T>C (p.Ser144=)
|
rs751979703
|
0.00002
|
NM_001876.4(CPT1A):c.51C>T (p.Asp17=)
|
rs750719349
|
0.00002
|
NM_001876.4(CPT1A):c.772-9G>A
|
rs936271013
|
0.00002
|
NM_001876.4(CPT1A):c.900G>T (p.Thr300=)
|
rs1273814063
|
0.00002
|
NM_001876.4(CPT1A):c.915C>T (p.Ser305=)
|
rs763082846
|
0.00002
|
NM_001918.5(DBT):c.1017+9T>C
|
rs773457541
|
0.00002
|
NM_001918.5(DBT):c.1210-11_1210-9del
|
rs1557944011
|
0.00002
|
NM_001918.5(DBT):c.1269T>C (p.Leu423=)
|
rs760929997
|
0.00002
|
NM_001918.5(DBT):c.15T>C (p.Arg5=)
|
rs773817425
|
0.00002
|
NM_001918.5(DBT):c.175+9G>A
|
rs779334816
|
0.00002
|
NM_001918.5(DBT):c.176-10del
|
rs745672858
|
0.00002
|
NM_001918.5(DBT):c.176-15C>A
|
rs762049483
|
0.00002
|
NM_001918.5(DBT):c.434-5A>C
|
rs374530437
|
0.00002
|
NM_001918.5(DBT):c.62G>A (p.Arg21His)
|
rs533707792
|
0.00002
|
NM_001958.5(EEF1A2):c.159C>T (p.Ser53=)
|
rs766656421
|
0.00002
|
NM_001958.5(EEF1A2):c.477G>A (p.Glu159=)
|
rs768282017
|
0.00002
|
NM_001958.5(EEF1A2):c.582C>T (p.Ser194=)
|
rs759785829
|
0.00002
|
NM_001958.5(EEF1A2):c.591C>T (p.His197=)
|
rs544191007
|
0.00002
|
NM_001958.5(EEF1A2):c.773-15C>T
|
rs780584279
|
0.00002
|
NM_001958.5(EEF1A2):c.773-7T>A
|
rs766099866
|
0.00002
|
NM_001958.5(EEF1A2):c.783G>A (p.Thr261=)
|
rs370695849
|
0.00002
|
NM_001985.3(ETFB):c.393T>C (p.Cys131=)
|
rs371564310
|
0.00002
|
NM_001985.3(ETFB):c.439-20C>G
|
rs755291156
|
0.00002
|
NM_001985.3(ETFB):c.57+7G>C
|
rs759897705
|
0.00002
|
NM_001985.3(ETFB):c.576C>T (p.Tyr192=)
|
rs748162444
|
0.00002
|
NM_001985.3(ETFB):c.702G>A (p.Thr234=)
|
rs769668781
|
0.00002
|
NM_002150.3(HPD):c.222G>T (p.Ala74=)
|
rs757475819
|
0.00002
|
NM_002150.3(HPD):c.93+9C>T
|
rs542121054
|
0.00002
|
NM_002225.5(IVD):c.1138+13C>T
|
rs770658726
|
0.00002
|
NM_002225.5(IVD):c.1138+9T>G
|
rs749171166
|
0.00002
|
NM_002225.5(IVD):c.1215G>A (p.Gly405=)
|
rs752374036
|
0.00002
|
NM_002225.5(IVD):c.219G>A (p.Glu73=)
|
rs748950739
|
0.00002
|
NM_002225.5(IVD):c.22C>T (p.Leu8=)
|
rs773816252
|
0.00002
|
NM_002225.5(IVD):c.357C>T (p.Ser119=)
|
rs776924775
|
0.00002
|
NM_002225.5(IVD):c.483C>T (p.Ala161=)
|
rs751760095
|
0.00002
|
NM_002225.5(IVD):c.534C>A (p.Leu178=)
|
rs775318094
|
0.00002
|
NM_002225.5(IVD):c.540G>A (p.Ala180=)
|
rs775944806
|
0.00002
|
NM_002225.5(IVD):c.897G>A (p.Leu299=)
|
rs751049911
|
0.00002
|
NM_002225.5(IVD):c.9T>C (p.Thr3=)
|
rs370886046
|
0.00002
|
NM_002454.3(MTRR):c.1057+9C>T
|
rs752920631
|
0.00002
|
NM_002454.3(MTRR):c.1146+12T>C
|
rs775452380
|
0.00002
|
NM_002454.3(MTRR):c.129+20A>T
|
rs758051759
|
0.00002
|
NM_002454.3(MTRR):c.1317T>C (p.Ser439=)
|
rs756279354
|
0.00002
|
NM_002454.3(MTRR):c.1563C>T (p.Ser521=)
|
rs757184514
|
0.00002
|
NM_002454.3(MTRR):c.1575A>C (p.Arg525=)
|
rs369430052
|
0.00002
|
NM_002454.3(MTRR):c.1641C>T (p.Thr547=)
|
rs1044675786
|
0.00002
|
NM_002454.3(MTRR):c.1769+14C>T
|
rs760216011
|
0.00002
|
NM_002454.3(MTRR):c.1773A>G (p.Lys591=)
|
rs760394620
|
0.00002
|
NM_002454.3(MTRR):c.1959A>G (p.Ala653=)
|
rs763202690
|
0.00002
|
NM_002454.3(MTRR):c.280C>T (p.Leu94=)
|
rs1383637211
|
0.00002
|
NM_002454.3(MTRR):c.459T>C (p.His153=)
|
rs1485372093
|
0.00002
|
NM_002860.4(ALDH18A1):c.183C>T (p.Phe61=)
|
rs375400820
|
0.00002
|
NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=)
|
rs1002367939
|
0.00002
|
NM_002860.4(ALDH18A1):c.231C>T (p.Leu77=)
|
rs1278292461
|
0.00002
|
NM_002860.4(ALDH18A1):c.2361C>T (p.Leu787=)
|
rs377506019
|
0.00002
|
NM_002860.4(ALDH18A1):c.454-9A>G
|
rs775098819
|
0.00002
|
NM_002860.4(ALDH18A1):c.465C>T (p.Val155=)
|
rs545084277
|
0.00002
|
NM_002860.4(ALDH18A1):c.966C>T (p.Gly322=)
|
rs754882491
|
0.00002
|
NM_003042.4(SLC6A1):c.1023C>T (p.Ile341=)
|
rs775636186
|
0.00002
|
NM_003042.4(SLC6A1):c.126C>T (p.Pro42=)
|
rs142759144
|
0.00002
|
NM_003042.4(SLC6A1):c.129C>A (p.Asp43Glu)
|
rs371207948
|
0.00002
|
NM_003042.4(SLC6A1):c.1392G>A (p.Val464=)
|
rs770686295
|
0.00002
|
NM_003042.4(SLC6A1):c.378C>T (p.Gly126=)
|
rs767614653
|
0.00002
|
NM_003042.4(SLC6A1):c.424G>A (p.Val142Ile)
|
rs746202904
|
0.00002
|
NM_003042.4(SLC6A1):c.514C>T (p.Arg172Cys)
|
rs778818301
|
0.00002
|
NM_003042.4(SLC6A1):c.715-7C>T
|
rs762522852
|
0.00002
|
NM_003042.4(SLC6A1):c.783G>A (p.Leu261=)
|
rs779237172
|
0.00002
|
NM_003042.4(SLC6A1):c.786C>T (p.Pro262=)
|
rs373297474
|
0.00002
|
NM_003042.4(SLC6A1):c.807C>T (p.Leu269=)
|
rs769006572
|
0.00002
|
NM_003042.4(SLC6A1):c.99G>A (p.Lys33=)
|
rs767066259
|
0.00002
|
NM_003060.4(SLC22A5):c.1053-19C>A
|
rs372778184
|
0.00002
|
NM_003060.4(SLC22A5):c.1185A>G (p.Gln395=)
|
rs916795176
|
0.00002
|
NM_003060.4(SLC22A5):c.1267+20A>G
|
rs372336902
|
0.00002
|
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=)
|
rs1226557478
|
0.00002
|
NM_003060.4(SLC22A5):c.306C>T (p.Asp102=)
|
rs1751854895
|
0.00002
|
NM_003060.4(SLC22A5):c.393+8C>T
|
rs1481183476
|
0.00002
|
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=)
|
rs145350949
|
0.00002
|
NM_003060.4(SLC22A5):c.573G>T (p.Lys191Asn)
|
rs765204844
|
0.00002
|
NM_003060.4(SLC22A5):c.810C>T (p.Cys270=)
|
rs200046767
|
0.00002
|
NM_003748.4(ALDH4A1):c.492G>A (p.Ala164=)
|
rs757586223
|
0.00002
|
NM_003982.4(SLC7A7):c.1014C>G (p.Gly338=)
|
rs1195982035
|
0.00002
|
NM_003982.4(SLC7A7):c.1083T>C (p.Ser361=)
|
rs768481415
|
0.00002
|
NM_003982.4(SLC7A7):c.1228C>A (p.Arg410=)
|
rs121908678
|
0.00002
|
NM_003982.4(SLC7A7):c.1251C>T (p.Ser417=)
|
rs775549397
|
0.00002
|
NM_003982.4(SLC7A7):c.1335C>T (p.Ile445=)
|
rs760898785
|
0.00002
|
NM_003982.4(SLC7A7):c.1359C>G (p.Gly453=)
|
rs771189806
|
0.00002
|
NM_003982.4(SLC7A7):c.1429+8G>A
|
rs201766738
|
0.00002
|
NM_003982.4(SLC7A7):c.342C>T (p.Phe114=)
|
rs777682875
|
0.00002
|
NM_003982.4(SLC7A7):c.558T>C (p.Ile186=)
|
rs567180118
|
0.00002
|
NM_003982.4(SLC7A7):c.597C>T (p.Ile199=)
|
rs756887684
|
0.00002
|
NM_003982.4(SLC7A7):c.612T>C (p.Val204=)
|
rs371412051
|
0.00002
|
NM_003982.4(SLC7A7):c.666A>C (p.Ser222=)
|
rs140599841
|
0.00002
|
NM_003982.4(SLC7A7):c.675G>C (p.Val225=)
|
rs772172822
|
0.00002
|
NM_003982.4(SLC7A7):c.681C>T (p.Asp227=)
|
rs774892456
|
0.00002
|
NM_003982.4(SLC7A7):c.688C>T (p.Leu230=)
|
rs749678651
|
0.00002
|
NM_004408.4(DNM1):c.1161G>A (p.Glu387=)
|
rs998519750
|
0.00002
|
NM_004408.4(DNM1):c.1197-11C>T
|
rs764285452
|
0.00002
|
NM_004408.4(DNM1):c.1197-15G>A
|
rs534677463
|
0.00002
|
NM_004408.4(DNM1):c.1380G>C (p.Val460=)
|
rs749564973
|
0.00002
|
NM_004408.4(DNM1):c.141G>T (p.Val47=)
|
rs1269297218
|
0.00002
|
NM_004408.4(DNM1):c.1423-14A>G
|
rs765225886
|
0.00002
|
NM_004408.4(DNM1):c.1558-17G>T
|
rs749222845
|
0.00002
|
NM_004408.4(DNM1):c.161+11C>G
|
rs1483670500
|
0.00002
|
NM_004408.4(DNM1):c.162-17C>T
|
rs1057524327
|
0.00002
|
NM_004408.4(DNM1):c.1755C>T (p.Ile585=)
|
rs759079310
|
0.00002
|
NM_004408.4(DNM1):c.1860C>T (p.Phe620=)
|
rs1050799692
|
0.00002
|
NM_004408.4(DNM1):c.2133G>A (p.Gln711=)
|
rs1277551348
|
0.00002
|
NM_004408.4(DNM1):c.2586C>T (p.Phe862=)
|
rs560349998
|
0.00002
|
NM_004408.4(DNM1):c.689-8G>T
|
rs760856978
|
0.00002
|
NM_004408.4(DNM1):c.702G>A (p.Val234=)
|
rs754094661
|
0.00002
|
NM_004408.4(DNM1):c.850-17C>G
|
rs764505046
|
0.00002
|
NM_004453.4(ETFDH):c.1371C>G (p.Ser457=)
|
rs749280294
|
0.00002
|
NM_004453.4(ETFDH):c.176-7C>T
|
rs776816664
|
0.00002
|
NM_004453.4(ETFDH):c.474G>A (p.Val158=)
|
rs1350126940
|
0.00002
|
NM_004453.4(ETFDH):c.558A>G (p.Gln186=)
|
rs143688210
|
0.00002
|
NM_004453.4(ETFDH):c.972+8A>G
|
rs778686663
|
0.00002
|
NM_004577.4(PSPH):c.422-14A>G
|
rs749619757
|
0.00002
|
NM_004937.3(CTNS):c.141-4A>C
|
rs1437667230
|
0.00002
|
NM_004937.3(CTNS):c.61+20G>A
|
rs760019018
|
0.00002
|
NM_004937.3(CTNS):c.642C>G (p.Val214=)
|
rs760843675
|
0.00002
|
NM_004937.3(CTNS):c.759C>T (p.Ile253=)
|
rs778758718
|
0.00002
|
NM_004937.3(CTNS):c.870C>T (p.Tyr290=)
|
rs776842972
|
0.00002
|
NM_004974.4(KCNA2):c.1053C>T (p.Ala351=)
|
rs748008112
|
0.00002
|
NM_004974.4(KCNA2):c.1450T>C (p.Leu484=)
|
rs139459165
|
0.00002
|
NM_004974.4(KCNA2):c.590G>A (p.Gly197Asp)
|
rs752985457
|
0.00002
|
NM_004975.4(KCNB1):c.1167G>A (p.Leu389=)
|
rs771768169
|
0.00002
|
NM_004975.4(KCNB1):c.1207C>T (p.Leu403=)
|
rs749215518
|
0.00002
|
NM_004975.4(KCNB1):c.1335C>T (p.Ile445=)
|
rs368667514
|
0.00002
|
NM_004975.4(KCNB1):c.1387A>G (p.Ile463Val)
|
rs777560545
|
0.00002
|
NM_004975.4(KCNB1):c.1494C>A (p.Thr498=)
|
rs1483168827
|
0.00002
|
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln)
|
rs753575587
|
0.00002
|
NM_004975.4(KCNB1):c.2058C>T (p.Pro686=)
|
rs908785527
|
0.00002
|
NM_004975.4(KCNB1):c.2225C>A (p.Thr742Lys)
|
rs1218107028
|
0.00002
|
NM_004975.4(KCNB1):c.2271C>T (p.Asp757=)
|
rs190726852
|
0.00002
|
NM_004975.4(KCNB1):c.2351C>T (p.Pro784Leu)
|
rs766596568
|
0.00002
|
NM_004975.4(KCNB1):c.2478T>C (p.Ser826=)
|
rs554768897
|
0.00002
|
NM_004975.4(KCNB1):c.2516C>T (p.Pro839Leu)
|
rs761070687
|
0.00002
|
NM_004975.4(KCNB1):c.513G>A (p.Lys171=)
|
rs762797906
|
0.00002
|
NM_004975.4(KCNB1):c.567+11G>C
|
rs772220866
|
0.00002
|
NM_004975.4(KCNB1):c.568-20C>T
|
rs934317402
|
0.00002
|
NM_004975.4(KCNB1):c.568-7C>T
|
rs958924629
|
0.00002
|
NM_004975.4(KCNB1):c.568-9T>C
|
rs771401083
|
0.00002
|
NM_004975.4(KCNB1):c.693C>T (p.His231=)
|
rs765195036
|
0.00002
|
NM_004975.4(KCNB1):c.96G>A (p.Arg32=)
|
rs781213174
|
0.00002
|
NM_004975.4(KCNB1):c.9G>A (p.Ala3=)
|
rs768300586
|
0.00002
|
NM_005050.4(ABCD4):c.1401C>T (p.Asp467=)
|
rs757799492
|
0.00002
|
NM_005050.4(ABCD4):c.1559+20G>A
|
rs572419384
|
0.00002
|
NM_005050.4(ABCD4):c.1704G>A (p.Gln568=)
|
rs141766346
|
0.00002
|
NM_005050.4(ABCD4):c.1818A>G (p.Glu606=)
|
rs761917106
|
0.00002
|
NM_005050.4(ABCD4):c.374G>A (p.Arg125Gln)
|
rs368694663
|
0.00002
|
NM_005271.5(GLUD1):c.330G>A (p.Lys110=)
|
rs199752396
|
0.00002
|
NM_005271.5(GLUD1):c.432G>T (p.Thr144=)
|
rs1423075857
|
0.00002
|
NM_005271.5(GLUD1):c.526+11G>A
|
rs757850230
|
0.00002
|
NM_005271.5(GLUD1):c.527-4T>G
|
rs779153065
|
0.00002
|
NM_005327.7(HADH):c.261+17G>A
|
rs185657456
|
0.00002
|
NM_005327.7(HADH):c.827-9G>A
|
rs1363052334
|
0.00002
|
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=)
|
rs782472950
|
0.00002
|
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=)
|
rs782517377
|
0.00002
|
NM_005334.3(HCFC1):c.2856+15G>A
|
rs1286532435
|
0.00002
|
NM_005334.3(HCFC1):c.2859C>T (p.Pro953=)
|
rs1436495630
|
0.00002
|
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=)
|
rs1557114580
|
0.00002
|
NM_005334.3(HCFC1):c.3249C>T (p.His1083=)
|
rs782014460
|
0.00002
|
NM_005334.3(HCFC1):c.3455C>G (p.Ala1152Gly)
|
rs868914963
|
0.00002
|
NM_005334.3(HCFC1):c.3975C>T (p.His1325=)
|
rs373289538
|
0.00002
|
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)
|
rs781788935
|
0.00002
|
NM_005334.3(HCFC1):c.504-5G>A
|
rs1362015008
|
0.00002
|
NM_005334.3(HCFC1):c.5517+16T>A
|
rs782354980
|
0.00002
|
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=)
|
rs781929046
|
0.00002
|
NM_005334.3(HCFC1):c.748G>A (p.Val250Met)
|
rs782385961
|
0.00002
|
NM_005518.4(HMGCS2):c.1236T>C (p.Tyr412=)
|
rs773364048
|
0.00002
|
NM_005518.4(HMGCS2):c.744G>A (p.Ser248=)
|
rs1219952938
|
0.00002
|
NM_005518.4(HMGCS2):c.891C>T (p.Tyr297=)
|
rs1048438
|
0.00002
|
NM_005629.4(SLC6A8):c.1242T>C (p.Gly414=)
|
rs1458755240
|
0.00002
|
NM_005629.4(SLC6A8):c.1254+10G>A
|
rs1478635455
|
0.00002
|
NM_005629.4(SLC6A8):c.1284C>T (p.Gly428=)
|
rs781788160
|
0.00002
|
NM_005629.4(SLC6A8):c.1393-11C>T
|
rs1341948115
|
0.00002
|
NM_005629.4(SLC6A8):c.1414C>T (p.Leu472=)
|
rs781974297
|
0.00002
|
NM_005629.4(SLC6A8):c.144C>T (p.Ala48=)
|
rs782232933
|
0.00002
|
NM_005629.4(SLC6A8):c.1515C>T (p.Asp505=)
|
rs151335200
|
0.00002
|
NM_005629.4(SLC6A8):c.1597-18C>T
|
rs781842035
|
0.00002
|
NM_005629.4(SLC6A8):c.1614C>T (p.Asn538=)
|
rs369726574
|
0.00002
|
NM_005629.4(SLC6A8):c.1683C>A (p.Gly561=)
|
rs1286428662
|
0.00002
|
NM_005629.4(SLC6A8):c.1698G>C (p.Leu566=)
|
rs782287646
|
0.00002
|
NM_005629.4(SLC6A8):c.1710G>A (p.Leu570=)
|
rs782662808
|
0.00002
|
NM_005629.4(SLC6A8):c.1731G>A (p.Leu577=)
|
rs1603217844
|
0.00002
|
NM_005629.4(SLC6A8):c.1743C>T (p.Leu581=)
|
rs782036265
|
0.00002
|
NM_005629.4(SLC6A8):c.1768-9C>G
|
rs782234529
|
0.00002
|
NM_005629.4(SLC6A8):c.1831G>A (p.Ala611Thr)
|
rs146949376
|
0.00002
|
NM_005629.4(SLC6A8):c.263-19G>A
|
rs202034702
|
0.00002
|
NM_005629.4(SLC6A8):c.286C>T (p.Leu96=)
|
rs141438791
|
0.00002
|
NM_005629.4(SLC6A8):c.639C>T (p.Phe213=)
|
rs1057523082
|
0.00002
|
NM_005629.4(SLC6A8):c.644+8C>T
|
rs782433720
|
0.00002
|
NM_005629.4(SLC6A8):c.747T>C (p.Cys249=)
|
rs782688272
|
0.00002
|
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg)
|
rs1233444890
|
0.00002
|
NM_005629.4(SLC6A8):c.833G>A (p.Arg278His)
|
rs782802482
|
0.00002
|
NM_005629.4(SLC6A8):c.90C>T (p.Ala30=)
|
rs1557043794
|
0.00002
|
NM_005881.4(BCKDK):c.717-4G>A
|
rs200045337
|
0.00002
|
NM_005957.5(MTHFR):c.1011G>A (p.Gly337=)
|
rs755483936
|
0.00002
|
NM_005957.5(MTHFR):c.1482C>T (p.Ser494=)
|
rs765736104
|
0.00002
|
NM_005957.5(MTHFR):c.1752+12G>A
|
rs541364916
|
0.00002
|
NM_005957.5(MTHFR):c.1770G>A (p.Leu590=)
|
rs554668389
|
0.00002
|
NM_005957.5(MTHFR):c.1857C>T (p.Val619=)
|
rs572292225
|
0.00002
|
NM_005957.5(MTHFR):c.236+8C>T
|
rs778531212
|
0.00002
|
NM_005957.5(MTHFR):c.376C>T (p.Leu126=)
|
rs775190597
|
0.00002
|
NM_005957.5(MTHFR):c.453G>A (p.Lys151=)
|
rs750818024
|
0.00002
|
NM_005957.5(MTHFR):c.606C>T (p.Pro202=)
|
rs13306554
|
0.00002
|
NM_005957.5(MTHFR):c.813G>A (p.Leu271=)
|
rs781214043
|
0.00002
|
NM_006623.4(PHGDH):c.1149C>T (p.Ser383=)
|
rs145449458
|
0.00002
|
NM_006623.4(PHGDH):c.1272C>T (p.Ala424=)
|
rs61743646
|
0.00002
|
NM_006623.4(PHGDH):c.1365A>G (p.Pro455=)
|
rs1264262485
|
0.00002
|
NM_006623.4(PHGDH):c.1447+9G>A
|
rs200578872
|
0.00002
|
NM_006623.4(PHGDH):c.1521C>T (p.His507=)
|
rs145182036
|
0.00002
|
NM_006623.4(PHGDH):c.222C>A (p.Gly74=)
|
rs746248451
|
0.00002
|
NM_006623.4(PHGDH):c.411+10G>A
|
rs754273367
|
0.00002
|
NM_006623.4(PHGDH):c.429G>A (p.Leu143=)
|
rs1417980204
|
0.00002
|
NM_006623.4(PHGDH):c.511-4C>A
|
rs1294928573
|
0.00002
|
NM_006623.4(PHGDH):c.644-4C>T
|
rs750611174
|
0.00002
|
NM_006623.4(PHGDH):c.745C>T (p.Leu249=)
|
rs779555619
|
0.00002
|
NM_006623.4(PHGDH):c.793-16A>G
|
rs182868038
|
0.00002
|
NM_006623.4(PHGDH):c.793-17T>C
|
rs777684647
|
0.00002
|
NM_006623.4(PHGDH):c.793-6G>T
|
rs759639493
|
0.00002
|
NM_006623.4(PHGDH):c.804G>A (p.Arg268=)
|
rs587719252
|
0.00002
|
NM_006623.4(PHGDH):c.909C>T (p.Phe303=)
|
rs762185673
|
0.00002
|
NM_006859.4(LIAS):c.234A>G (p.Pro78=)
|
rs766730917
|
0.00002
|
NM_006859.4(LIAS):c.46-16T>C
|
rs752442762
|
0.00002
|
NM_006859.4(LIAS):c.737+11G>A
|
rs760672937
|
0.00002
|
NM_012213.3(MLYCD):c.1179G>A (p.Ala393=)
|
rs564269563
|
0.00002
|
NM_012213.3(MLYCD):c.334C>T (p.Leu112=)
|
rs751532385
|
0.00002
|
NM_012213.3(MLYCD):c.528+10C>T
|
rs1177520551
|
0.00002
|
NM_012213.3(MLYCD):c.615G>A (p.Pro205=)
|
rs572295105
|
0.00002
|
NM_012213.3(MLYCD):c.641+12G>A
|
rs186425334
|
0.00002
|
NM_012213.3(MLYCD):c.798+9G>A
|
rs752966506
|
0.00002
|
NM_012213.3(MLYCD):c.879G>A (p.Leu293=)
|
rs1907207894
|
0.00002
|
NM_014251.3(SLC25A13):c.1344T>C (p.Pro448=)
|
rs1037190907
|
0.00002
|
NM_014251.3(SLC25A13):c.1353C>T (p.Ile451=)
|
rs267601652
|
0.00002
|
NM_014251.3(SLC25A13):c.1419C>T (p.Val473=)
|
rs201598915
|
0.00002
|
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=)
|
rs144494809
|
0.00002
|
NM_014251.3(SLC25A13):c.1695C>T (p.Cys565=)
|
rs765192701
|
0.00002
|
NM_014251.3(SLC25A13):c.798C>T (p.Pro266=)
|
rs988236127
|
0.00002
|
NM_014252.4(SLC25A15):c.144C>T (p.Thr48=)
|
rs376634191
|
0.00002
|
NM_014252.4(SLC25A15):c.314+10G>A
|
rs538900917
|
0.00002
|
NM_014252.4(SLC25A15):c.336C>T (p.Ala112=)
|
rs371187770
|
0.00002
|
NM_014252.4(SLC25A15):c.567T>C (p.Gly189=)
|
rs1266409173
|
0.00002
|
NM_014252.4(SLC25A15):c.756C>T (p.Thr252=)
|
rs11618618
|
0.00002
|
NM_014362.4(HIBCH):c.438+11T>G
|
rs1414998551
|
0.00002
|
NM_014384.3(ACAD8):c.491-6C>T
|
rs772337149
|
0.00002
|
NM_015506.3(MMACHC):c.105G>A (p.Leu35=)
|
rs1415635839
|
0.00002
|
NM_015506.3(MMACHC):c.354G>A (p.Gln118=)
|
rs765769901
|
0.00002
|
NM_015506.3(MMACHC):c.414C>T (p.Asp138=)
|
rs775173474
|
0.00002
|
NM_015506.3(MMACHC):c.429+14T>G
|
rs371226986
|
0.00002
|
NM_015506.3(MMACHC):c.574C>T (p.Leu192=)
|
rs762919217
|
0.00002
|
NM_015506.3(MMACHC):c.606T>C (p.Asp202=)
|
rs748881103
|
0.00002
|
NM_015506.3(MMACHC):c.765C>T (p.Pro255=)
|
rs772078967
|
0.00002
|
NM_015506.3(MMACHC):c.810C>T (p.Leu270=)
|
rs778330842
|
0.00002
|
NM_015509.4(NECAP1):c.180C>T (p.Leu60=)
|
rs374460096
|
0.00002
|
NM_015509.4(NECAP1):c.196+11C>T
|
rs375832217
|
0.00002
|
NM_015509.4(NECAP1):c.383+10G>C
|
rs1465757811
|
0.00002
|
NM_015509.4(NECAP1):c.723A>G (p.Ala241=)
|
rs1311591214
|
0.00002
|
NM_015662.3(IFT172):c.15C>T (p.His5=)
|
rs377627847
|
0.00002
|
NM_015662.3(IFT172):c.1638G>A (p.Leu546=)
|
rs372659702
|
0.00002
|
NM_015662.3(IFT172):c.1693-19G>T
|
rs202039261
|
0.00002
|
NM_015662.3(IFT172):c.183+17T>C
|
rs754011076
|
0.00002
|
NM_015662.3(IFT172):c.2194-7T>C
|
rs569757422
|
0.00002
|
NM_015662.3(IFT172):c.2667C>T (p.Ala889=)
|
rs753125303
|
0.00002
|
NM_015662.3(IFT172):c.3093A>G (p.Thr1031=)
|
rs755900185
|
0.00002
|
NM_015662.3(IFT172):c.3229-4A>G
|
rs766026056
|
0.00002
|
NM_015662.3(IFT172):c.336+14C>T
|
rs780202491
|
0.00002
|
NM_015662.3(IFT172):c.3711+15G>A
|
rs778810233
|
0.00002
|
NM_015662.3(IFT172):c.3987A>G (p.Gln1329=)
|
rs768705269
|
0.00002
|
NM_015662.3(IFT172):c.3990T>A (p.Arg1330=)
|
rs367670487
|
0.00002
|
NM_015662.3(IFT172):c.4051-20G>A
|
rs761286001
|
0.00002
|
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu)
|
rs777573615
|
0.00002
|
NM_015662.3(IFT172):c.4539+10C>T
|
rs778633701
|
0.00002
|
NM_015662.3(IFT172):c.4629G>A (p.Thr1543=)
|
rs371031629
|
0.00002
|
NM_015662.3(IFT172):c.4656G>A (p.Gln1552=)
|
rs530107456
|
0.00002
|
NM_015662.3(IFT172):c.771A>G (p.Leu257=)
|
rs756245677
|
0.00002
|
NM_015662.3(IFT172):c.780T>C (p.Tyr260=)
|
rs752770691
|
0.00002
|
NM_015702.3(MMADHC):c.537A>G (p.Thr179=)
|
rs377571291
|
0.00002
|
NM_015702.3(MMADHC):c.615C>T (p.Ile205=)
|
rs986210972
|
0.00002
|
NM_016335.6(PRODH):c.1251+10C>T
|
rs755799435
|
0.00002
|
NM_016335.6(PRODH):c.468G>A (p.Glu156=)
|
rs749195093
|
0.00002
|
NM_016579.4(CD320):c.126C>T (p.Thr42=)
|
rs551205813
|
0.00002
|
NM_016579.4(CD320):c.318C>T (p.Leu106=)
|
rs369646365
|
0.00002
|
NM_018368.4(LMBRD1):c.1188+7A>T
|
rs375681915
|
0.00002
|
NM_018368.4(LMBRD1):c.1418-16T>C
|
rs753105951
|
0.00002
|
NM_018368.4(LMBRD1):c.1557G>A (p.Ser519=)
|
rs944285630
|
0.00002
|
NM_018368.4(LMBRD1):c.39C>T (p.Ile13=)
|
rs368494826
|
0.00002
|
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
0.00002
|
NM_018706.7(DHTKD1):c.1113C>A (p.Thr371=)
|
rs191543372
|
0.00002
|
NM_018706.7(DHTKD1):c.154+19G>A
|
rs767736649
|
0.00002
|
NM_018706.7(DHTKD1):c.2031C>T (p.Asp677=)
|
rs779425467
|
0.00002
|
NM_018706.7(DHTKD1):c.2103C>T (p.Tyr701=)
|
rs766801757
|
0.00002
|
NM_018706.7(DHTKD1):c.2319+12G>A
|
rs750847492
|
0.00002
|
NM_018706.7(DHTKD1):c.2370G>A (p.Pro790=)
|
rs745636733
|
0.00002
|
NM_018706.7(DHTKD1):c.306G>A (p.Thr102=)
|
rs775431352
|
0.00002
|
NM_018706.7(DHTKD1):c.717+13G>A
|
rs778027470
|
0.00002
|
NM_018706.7(DHTKD1):c.780C>T (p.Asp260=)
|
rs143069945
|
0.00002
|
NM_018706.7(DHTKD1):c.9T>A (p.Ser3=)
|
rs367959044
|
0.00002
|
NM_020166.5(MCCC1):c.1146C>T (p.Phe382=)
|
rs762544072
|
0.00002
|
NM_020166.5(MCCC1):c.144C>T (p.Asn48=)
|
rs77681010
|
0.00002
|
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=)
|
rs150835353
|
0.00002
|
NM_020166.5(MCCC1):c.1797A>G (p.Lys599=)
|
rs147087448
|
0.00002
|
NM_020166.5(MCCC1):c.387C>T (p.Cys129=)
|
rs761110034
|
0.00002
|
NM_020166.5(MCCC1):c.603T>C (p.Pro201=)
|
rs765869735
|
0.00002
|
NM_020166.5(MCCC1):c.618C>T (p.Ala206=)
|
rs760366008
|
0.00002
|
NM_020166.5(MCCC1):c.639+9G>T
|
rs780170482
|
0.00002
|
NM_020166.5(MCCC1):c.761+14A>G
|
rs372797109
|
0.00002
|
NM_020686.6(ABAT):c.1062C>T (p.Thr354=)
|
rs772989994
|
0.00002
|
NM_020686.6(ABAT):c.1113G>A (p.Arg371=)
|
rs1000294391
|
0.00002
|
NM_020686.6(ABAT):c.199-9T>A
|
rs767501137
|
0.00002
|
NM_020686.6(ABAT):c.367-11C>T
|
rs368243612
|
0.00002
|
NM_020686.6(ABAT):c.462G>C (p.Gly154=)
|
rs892963068
|
0.00002
|
NM_020686.6(ABAT):c.486C>T (p.Ala162=)
|
rs763045532
|
0.00002
|
NM_020686.6(ABAT):c.618C>T (p.Pro206=)
|
rs373357773
|
0.00002
|
NM_020686.6(ABAT):c.667+15T>C
|
rs753309345
|
0.00002
|
NM_020686.6(ABAT):c.70+12G>A
|
rs760345321
|
0.00002
|
NM_020686.6(ABAT):c.873C>T (p.Ile291=)
|
rs775338476
|
0.00002
|
NM_022132.5(MCCC2):c.1119C>T (p.Asn373=)
|
rs766440020
|
0.00002
|
NM_022132.5(MCCC2):c.1216+8A>G
|
rs532313245
|
0.00002
|
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=)
|
rs754213093
|
0.00002
|
NM_022132.5(MCCC2):c.1488+10del
|
rs767400522
|
0.00002
|
NM_022132.5(MCCC2):c.78C>T (p.Asp26=)
|
rs774475879
|
0.00002
|
NM_022132.5(MCCC2):c.903+9G>A
|
rs747069963
|
0.00002
|
NM_025136.4(OPA3):c.142+16A>G
|
rs1969904812
|
0.00002
|
NM_025136.4(OPA3):c.15G>C (p.Ala5=)
|
rs763315476
|
0.00002
|
NM_025136.4(OPA3):c.333G>A (p.Lys111=)
|
rs761583193
|
0.00002
|
NM_025136.4(OPA3):c.336G>A (p.Glu112=)
|
rs146349367
|
0.00002
|
NM_025136.4(OPA3):c.351T>C (p.Ala117=)
|
rs760489108
|
0.00002
|
NM_025136.4(OPA3):c.519A>G (p.Ala173=)
|
rs1200579847
|
0.00002
|
NM_025136.4(OPA3):c.528G>A (p.Ala176=)
|
rs752240099
|
0.00002
|
NM_025136.4(OPA3):c.540G>A (p.Ter180=)
|
rs774281852
|
0.00002
|
NM_032861.4(SERAC1):c.1309-19T>G
|
rs372001660
|
0.00002
|
NM_032861.4(SERAC1):c.1684+7C>A
|
rs765831183
|
0.00002
|
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
|
rs751553040
|
0.00002
|
NM_052845.4(MMAB):c.372C>T (p.Val124=)
|
rs371092213
|
0.00002
|
NM_052845.4(MMAB):c.618T>C (p.Asp206=)
|
rs1461731163
|
0.00002
|
NM_052845.4(MMAB):c.644+8C>T
|
rs770159367
|
0.00002
|
NM_052845.4(MMAB):c.645-6C>T
|
rs766039550
|
0.00002
|
NM_054012.4(ASS1):c.1127+15C>T
|
rs1057523862
|
0.00002
|
NM_054012.4(ASS1):c.144G>A (p.Arg48=)
|
rs756107583
|
0.00002
|
NM_054012.4(ASS1):c.294C>T (p.Ile98=)
|
rs183370361
|
0.00002
|
NM_054012.4(ASS1):c.336G>A (p.Lys112=)
|
rs374535616
|
0.00002
|
NM_054012.4(ASS1):c.381G>A (p.Arg127=)
|
rs1338613142
|
0.00002
|
NM_054012.4(ASS1):c.495+9G>A
|
rs767706288
|
0.00002
|
NM_054012.4(ASS1):c.534G>A (p.Pro178=)
|
rs113818350
|
0.00002
|
NM_054012.4(ASS1):c.567-4G>A
|
rs754758285
|
0.00002
|
NM_054012.4(ASS1):c.567-5C>T
|
rs753543907
|
0.00002
|
NM_054012.4(ASS1):c.726C>T (p.Thr242=)
|
rs768496429
|
0.00002
|
NM_054012.4(ASS1):c.930A>G (p.Lys310=)
|
rs200219927
|
0.00002
|
NM_054012.4(ASS1):c.966T>C (p.Tyr322=)
|
rs750851227
|
0.00002
|
NM_058179.4(PSAT1):c.1007+16A>G
|
rs1385813794
|
0.00002
|
NM_058179.4(PSAT1):c.398-9C>G
|
rs542270699
|
0.00002
|
NM_058179.4(PSAT1):c.447G>A (p.Val149=)
|
rs745905648
|
0.00002
|
NM_058179.4(PSAT1):c.571-4T>A
|
rs539694042
|
0.00002
|
NM_058179.4(PSAT1):c.60+8C>G
|
rs753386884
|
0.00002
|
NM_145261.4(DNAJC19):c.210-17T>C
|
rs750700018
|
0.00002
|
NM_145261.4(DNAJC19):c.90G>A (p.Glu30=)
|
rs367996239
|
0.00002
|
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=)
|
rs772729729
|
0.00002
|
NM_152419.3(HGSNAT):c.1377+14G>A
|
rs781546106
|
0.00002
|
NM_152419.3(HGSNAT):c.1377+19C>T
|
rs753305419
|
0.00002
|
NM_152419.3(HGSNAT):c.1614-10C>T
|
rs755029430
|
0.00002
|
NM_152419.3(HGSNAT):c.168A>G (p.Leu56=)
|
rs769399813
|
0.00002
|
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=)
|
rs367648422
|
0.00002
|
NM_152419.3(HGSNAT):c.1842C>T (p.Val614=)
|
rs374563604
|
0.00002
|
NM_152419.3(HGSNAT):c.282G>A (p.Gly94=)
|
rs751419441
|
0.00002
|
NM_152419.3(HGSNAT):c.371+15T>A
|
rs372920077
|
0.00002
|
NM_152419.3(HGSNAT):c.690G>A (p.Thr230=)
|
rs1303093971
|
0.00002
|
NM_152419.3(HGSNAT):c.90G>T (p.Gly30=)
|
rs1187482453
|
0.00002
|
NM_152419.3(HGSNAT):c.945A>G (p.Ala315=)
|
rs371569367
|
0.00002
|
NM_152542.5(PPM1K):c.582A>G (p.Leu194=)
|
rs758129828
|
0.00002
|
NM_152542.5(PPM1K):c.600A>G (p.Glu200=)
|
rs755062947
|
0.00002
|
NM_153006.3(NAGS):c.1275C>T (p.Asn425=)
|
rs758320949
|
0.00002
|
NM_153006.3(NAGS):c.417C>T (p.Ala139=)
|
rs776301293
|
0.00002
|
NM_153006.3(NAGS):c.505A>T (p.Met169Leu)
|
rs569174201
|
0.00002
|
NM_153006.3(NAGS):c.834C>T (p.Thr278=)
|
rs1355724687
|
0.00002
|
NM_153006.3(NAGS):c.852G>A (p.Ala284=)
|
rs781691544
|
0.00002
|
NM_172250.3(MMAA):c.1059G>A (p.Gly353=)
|
rs552250080
|
0.00002
|
NM_172250.3(MMAA):c.1140G>A (p.Arg380=)
|
rs1209585004
|
0.00002
|
NM_172250.3(MMAA):c.585C>T (p.Thr195=)
|
rs571797666
|
0.00002
|
NM_172250.3(MMAA):c.970-6C>T
|
rs774402841
|
0.00002
|
NM_177550.5(SLC13A5):c.1055+15C>A
|
rs764186836
|
0.00002
|
NM_177550.5(SLC13A5):c.1179C>T (p.Pro393=)
|
rs755751249
|
0.00002
|
NM_177550.5(SLC13A5):c.1275+7T>C
|
rs537439213
|
0.00002
|
NM_177550.5(SLC13A5):c.1438-20G>A
|
rs1329698702
|
0.00002
|
NM_177550.5(SLC13A5):c.1438-4G>A
|
rs901014442
|
0.00002
|
NM_177550.5(SLC13A5):c.232-15C>T
|
rs199904860
|
0.00002
|
NM_177550.5(SLC13A5):c.313C>T (p.Leu105=)
|
rs765334582
|
0.00002
|
NM_177550.5(SLC13A5):c.368+8C>T
|
rs754086132
|
0.00002
|
NM_177550.5(SLC13A5):c.390C>T (p.Gly130=)
|
rs371499002
|
0.00002
|
NM_177550.5(SLC13A5):c.471G>A (p.Gln157=)
|
rs367895721
|
0.00002
|
NM_177550.5(SLC13A5):c.675C>T (p.Thr225=)
|
rs766223341
|
0.00002
|
NM_177550.5(SLC13A5):c.744G>C (p.Val248=)
|
rs755035537
|
0.00002
|
NM_177550.5(SLC13A5):c.771C>T (p.Ala257=)
|
rs1042746956
|
0.00002
|
NM_183050.4(BCKDHB):c.36C>T (p.Leu12=)
|
rs1464497822
|
0.00002
|
NM_183050.4(BCKDHB):c.714T>C (p.Phe238=)
|
rs774640066
|
0.00002
|
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)
|
rs537988425
|
0.00002
|
NM_183050.4(BCKDHB):c.789C>T (p.Ala263=)
|
rs145150150
|
0.00002
|
NM_201253.3(CRB1):c.1191C>T (p.Asp397=)
|
rs758897056
|
0.00002
|
NM_201253.3(CRB1):c.1299T>C (p.Tyr433=)
|
rs1032057202
|
0.00002
|
NM_201253.3(CRB1):c.1350T>C (p.Cys450=)
|
rs1199282651
|
0.00002
|
NM_201253.3(CRB1):c.1452C>T (p.Thr484=)
|
rs372844443
|
0.00002
|
NM_201253.3(CRB1):c.1974C>T (p.Ile658=)
|
rs756559532
|
0.00002
|
NM_201253.3(CRB1):c.2010T>C (p.Cys670=)
|
rs201949837
|
0.00002
|
NM_201253.3(CRB1):c.2118C>T (p.Asn706=)
|
rs775275370
|
0.00002
|
NM_201253.3(CRB1):c.234C>T (p.Pro78=)
|
rs1216212132
|
0.00002
|
NM_201253.3(CRB1):c.2637C>G (p.Val879=)
|
rs150464955
|
0.00002
|
NM_201253.3(CRB1):c.2901G>T (p.Gly967=)
|
rs773815247
|
0.00002
|
NM_201253.3(CRB1):c.3276C>A (p.Gly1092=)
|
rs550408313
|
0.00002
|
NM_201253.3(CRB1):c.3381A>G (p.Lys1127=)
|
rs1327880181
|
0.00002
|
NM_201253.3(CRB1):c.4002G>A (p.Val1334=)
|
rs752417635
|
0.00002
|
NM_201253.3(CRB1):c.4005+10C>T
|
rs531187198
|
0.00002
|
NM_201253.3(CRB1):c.4125T>C (p.Thr1375=)
|
rs1459964782
|
0.00002
|
NM_201253.3(CRB1):c.54G>A (p.Leu18=)
|
rs769695428
|
0.00002
|
NM_201253.3(CRB1):c.591C>T (p.Asn197=)
|
rs770973303
|
0.00002
|
NM_201253.3(CRB1):c.768G>T (p.Gly256=)
|
rs776142561
|
0.00002
|
NM_201253.3(CRB1):c.867G>A (p.Thr289=)
|
rs147244321
|
0.00002
|
NM_201253.3(CRB1):c.939T>C (p.Asn313=)
|
rs1410405020
|
0.00002
|
NM_205861.3(DHDDS):c.181-9C>T
|
rs754405782
|
0.00002
|
NM_205861.3(DHDDS):c.756C>T (p.Ser252=)
|
rs565600867
|
0.00002
|
NM_205861.3(DHDDS):c.909G>A (p.Ser303=)
|
rs376517028
|
0.00002
|
NM_000016.6(ACADM):c.1077A>G (p.Ala359=)
|
rs373828881
|
0.00001
|
NM_000016.6(ACADM):c.1167A>G (p.Lys389=)
|
rs1426726206
|
0.00001
|
NM_000016.6(ACADM):c.1194+9A>G
|
rs1570910495
|
0.00001
|
NM_000016.6(ACADM):c.1206T>C (p.Gly402=)
|
rs775020164
|
0.00001
|
NM_000016.6(ACADM):c.1239T>C (p.Arg413=)
|
rs767921195
|
0.00001
|
NM_000016.6(ACADM):c.126C>T (p.Thr42=)
|
rs765625793
|
0.00001
|
NM_000016.6(ACADM):c.171A>G (p.Arg57=)
|
rs1419381234
|
0.00001
|
NM_000016.6(ACADM):c.195A>C (p.Ala65=)
|
rs771649282
|
0.00001
|
NM_000016.6(ACADM):c.216+7A>G
|
rs1469967408
|
0.00001
|
NM_000016.6(ACADM):c.21A>G (p.Arg7=)
|
rs906559903
|
0.00001
|
NM_000016.6(ACADM):c.229C>T (p.Leu77=)
|
rs749859620
|
0.00001
|
NM_000016.6(ACADM):c.287-6C>T
|
rs771099349
|
0.00001
|
NM_000016.6(ACADM):c.287-7dup
|
rs886042084
|
0.00001
|
NM_000016.6(ACADM):c.30+8G>A
|
rs760526492
|
0.00001
|
NM_000016.6(ACADM):c.31-5T>C
|
rs756654520
|
0.00001
|
NM_000016.6(ACADM):c.34C>T (p.Leu12=)
|
rs562722132
|
0.00001
|
NM_000016.6(ACADM):c.363T>C (p.Thr121=)
|
rs766081723
|
0.00001
|
NM_000016.6(ACADM):c.382T>C (p.Leu128=)
|
rs764651997
|
0.00001
|
NM_000016.6(ACADM):c.388-6C>T
|
rs776623274
|
0.00001
|
NM_000016.6(ACADM):c.402T>A (p.Ile134=)
|
rs757821130
|
0.00001
|
NM_000016.6(ACADM):c.469-4C>G
|
rs1244966116
|
0.00001
|
NM_000016.6(ACADM):c.600-6T>C
|
rs771343450
|
0.00001
|
NM_000016.6(ACADM):c.610T>C (p.Leu204=)
|
rs776993753
|
0.00001
|
NM_000016.6(ACADM):c.705A>G (p.Arg235=)
|
rs1647874596
|
0.00001
|
NM_000016.6(ACADM):c.756C>T (p.Phe252=)
|
rs749692458
|
0.00001
|
NM_000016.6(ACADM):c.771G>A (p.Val257=)
|
rs762143899
|
0.00001
|
NM_000016.6(ACADM):c.90A>G (p.Gln30=)
|
rs1047139742
|
0.00001
|
NM_000016.6(ACADM):c.936A>T (p.Leu312=)
|
rs770989035
|
0.00001
|
NM_000016.6(ACADM):c.981A>C (p.Ala327=)
|
rs951841268
|
0.00001
|
NM_000017.4(ACADS):c.1071C>T (p.Thr357=)
|
rs759011410
|
0.00001
|
NM_000017.4(ACADS):c.1173C>T (p.Tyr391=)
|
rs766657084
|
0.00001
|
NM_000017.4(ACADS):c.46+8C>A
|
rs758929346
|
0.00001
|
NM_000017.4(ACADS):c.473-9T>G
|
rs751507296
|
0.00001
|
NM_000017.4(ACADS):c.477C>T (p.Asn159=)
|
rs747915680
|
0.00001
|
NM_000017.4(ACADS):c.625-7C>T
|
rs748174528
|
0.00001
|
NM_000017.4(ACADS):c.801C>A (p.Thr267=)
|
rs746750876
|
0.00001
|
NM_000017.4(ACADS):c.934-11G>A
|
rs753547944
|
0.00001
|
NM_000017.4(ACADS):c.981G>C (p.Leu327=)
|
rs1214493869
|
0.00001
|
NM_000018.4(ACADVL):c.1050T>C (p.Gly350=)
|
rs752314368
|
0.00001
|
NM_000018.4(ACADVL):c.1077+8C>T
|
rs938844412
|
0.00001
|
NM_000018.4(ACADVL):c.1083T>C (p.Asp361=)
|
rs770917473
|
0.00001
|
NM_000018.4(ACADVL):c.1089C>A (p.Ala363=)
|
rs774273664
|
0.00001
|
NM_000018.4(ACADVL):c.1101C>T (p.Thr367=)
|
rs1179669157
|
0.00001
|
NM_000018.4(ACADVL):c.111G>A (p.Arg37=)
|
rs755803798
|
0.00001
|
NM_000018.4(ACADVL):c.1125C>T (p.Asn375=)
|
rs1349423150
|
0.00001
|
NM_000018.4(ACADVL):c.117C>T (p.Pro39=)
|
rs370883584
|
0.00001
|
NM_000018.4(ACADVL):c.1183-6C>T
|
rs1184450028
|
0.00001
|
NM_000018.4(ACADVL):c.123C>T (p.Ala41=)
|
rs778217628
|
0.00001
|
NM_000018.4(ACADVL):c.1245C>T (p.Ala415=)
|
rs1481416358
|
0.00001
|
NM_000018.4(ACADVL):c.1269+18C>G
|
rs1567567226
|
0.00001
|
NM_000018.4(ACADVL):c.1302C>A (p.Ile434=)
|
rs1469316904
|
0.00001
|
NM_000018.4(ACADVL):c.132C>G (p.Ala44=)
|
rs1237892223
|
0.00001
|
NM_000018.4(ACADVL):c.1332+9C>T
|
rs376427620
|
0.00001
|
NM_000018.4(ACADVL):c.1333-4C>T
|
rs1393726040
|
0.00001
|
NM_000018.4(ACADVL):c.1333-7G>T
|
rs1228196483
|
0.00001
|
NM_000018.4(ACADVL):c.1341A>G (p.Gly447=)
|
rs1484763411
|
0.00001
|
NM_000018.4(ACADVL):c.139-10C>T
|
rs747439748
|
0.00001
|
NM_000018.4(ACADVL):c.1408C>T (p.Leu470=)
|
rs1335872701
|
0.00001
|
NM_000018.4(ACADVL):c.1410G>A (p.Leu470=)
|
rs1281251073
|
0.00001
|
NM_000018.4(ACADVL):c.1494T>G (p.Ala498=)
|
rs756867868
|
0.00001
|
NM_000018.4(ACADVL):c.1515A>C (p.Ala505=)
|
rs781153542
|
0.00001
|
NM_000018.4(ACADVL):c.1532+10G>C
|
rs775913504
|
0.00001
|
NM_000018.4(ACADVL):c.1551C>T (p.Ser517=)
|
rs926496616
|
0.00001
|
NM_000018.4(ACADVL):c.1569A>G (p.Gly523=)
|
rs779048354
|
0.00001
|
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)
|
rs745996278
|
0.00001
|
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=)
|
rs779770406
|
0.00001
|
NM_000018.4(ACADVL):c.1678+16A>G
|
rs768350660
|
0.00001
|
NM_000018.4(ACADVL):c.1678+9G>A
|
rs775156404
|
0.00001
|
NM_000018.4(ACADVL):c.1751+7A>T
|
rs1438741226
|
0.00001
|
NM_000018.4(ACADVL):c.1827+10G>A
|
rs766755156
|
0.00001
|
NM_000018.4(ACADVL):c.1827+9C>T
|
rs372630480
|
0.00001
|
NM_000018.4(ACADVL):c.1848G>A (p.Glu616=)
|
rs372886650
|
0.00001
|
NM_000018.4(ACADVL):c.1893C>T (p.Tyr631=)
|
rs780006187
|
0.00001
|
NM_000018.4(ACADVL):c.201G>A (p.Lys67=)
|
rs753577095
|
0.00001
|
NM_000018.4(ACADVL):c.204+15G>A
|
rs1404625751
|
0.00001
|
NM_000018.4(ACADVL):c.204+16G>A
|
rs780773899
|
0.00001
|
NM_000018.4(ACADVL):c.205-15C>T
|
rs1567560898
|
0.00001
|
NM_000018.4(ACADVL):c.216C>T (p.Ser72=)
|
rs761492981
|
0.00001
|
NM_000018.4(ACADVL):c.270C>T (p.Tyr90=)
|
rs749482177
|
0.00001
|
NM_000018.4(ACADVL):c.277+7G>C
|
rs1405587459
|
0.00001
|
NM_000018.4(ACADVL):c.278-5T>C
|
rs780118841
|
0.00001
|
NM_000018.4(ACADVL):c.278-6C>T
|
rs1008843538
|
0.00001
|
NM_000018.4(ACADVL):c.278-7T>C
|
rs758471890
|
0.00001
|
NM_000018.4(ACADVL):c.278-8C>T
|
rs1178133251
|
0.00001
|
NM_000018.4(ACADVL):c.279G>A (p.Val93=)
|
rs748048602
|
0.00001
|
NM_000018.4(ACADVL):c.285C>T (p.Asn95=)
|
rs769723013
|
0.00001
|
NM_000018.4(ACADVL):c.339C>T (p.Phe113=)
|
rs750653177
|
0.00001
|
NM_000018.4(ACADVL):c.33G>A (p.Gly11=)
|
rs975427927
|
0.00001
|
NM_000018.4(ACADVL):c.342+10G>T
|
rs1226688830
|
0.00001
|
NM_000018.4(ACADVL):c.342+16G>C
|
rs536497611
|
0.00001
|
NM_000018.4(ACADVL):c.342+18G>A
|
rs372594520
|
0.00001
|
NM_000018.4(ACADVL):c.343-13G>A
|
rs1250954751
|
0.00001
|
NM_000018.4(ACADVL):c.343-19G>A
|
rs2090623176
|
0.00001
|
NM_000018.4(ACADVL):c.393C>G (p.Thr131=)
|
rs754931255
|
0.00001
|
NM_000018.4(ACADVL):c.432G>C (p.Leu144=)
|
rs778968978
|
0.00001
|
NM_000018.4(ACADVL):c.456T>C (p.Gly152=)
|
rs1009994523
|
0.00001
|
NM_000018.4(ACADVL):c.477+14A>G
|
rs1483410961
|
0.00001
|
NM_000018.4(ACADVL):c.477+14_477+16del
|
rs767953226
|
0.00001
|
NM_000018.4(ACADVL):c.480C>T (p.Tyr160=)
|
rs371910495
|
0.00001
|
NM_000018.4(ACADVL):c.483C>A (p.Ala161=)
|
rs573137772
|
0.00001
|
NM_000018.4(ACADVL):c.51C>T (p.Leu17=)
|
rs376733533
|
0.00001
|
NM_000018.4(ACADVL):c.531C>T (p.Thr177=)
|
rs2071228805
|
0.00001
|
NM_000018.4(ACADVL):c.532C>T (p.Leu178=)
|
rs376092908
|
0.00001
|
NM_000018.4(ACADVL):c.54G>A (p.Gly18=)
|
rs759918601
|
0.00001
|
NM_000018.4(ACADVL):c.552C>T (p.Ile184=)
|
rs770961747
|
0.00001
|
NM_000018.4(ACADVL):c.576T>C (p.Phe192=)
|
rs760355468
|
0.00001
|
NM_000018.4(ACADVL):c.62+20G>A
|
rs369163211
|
0.00001
|
NM_000018.4(ACADVL):c.622+20G>T
|
rs2071236387
|
0.00001
|
NM_000018.4(ACADVL):c.623-10T>C
|
rs1021636784
|
0.00001
|
NM_000018.4(ACADVL):c.651C>T (p.Thr217=)
|
rs764913196
|
0.00001
|
NM_000018.4(ACADVL):c.690C>T (p.Thr230=)
|
rs749436149
|
0.00001
|
NM_000018.4(ACADVL):c.78G>C (p.Ala26=)
|
rs1285117129
|
0.00001
|
NM_000018.4(ACADVL):c.828G>A (p.Lys276=)
|
rs986417874
|
0.00001
|
NM_000018.4(ACADVL):c.864C>T (p.Phe288=)
|
rs753748672
|
0.00001
|
NM_000018.4(ACADVL):c.867G>T (p.Gly289=)
|
rs745557512
|
0.00001
|
NM_000018.4(ACADVL):c.878+19G>C
|
rs1405611766
|
0.00001
|
NM_000018.4(ACADVL):c.878+8A>C
|
rs910644475
|
0.00001
|
NM_000018.4(ACADVL):c.879-16C>A
|
rs780626099
|
0.00001
|
NM_000018.4(ACADVL):c.882G>A (p.Gly294=)
|
rs1314252710
|
0.00001
|
NM_000018.4(ACADVL):c.894G>A (p.Lys298=)
|
rs749598830
|
0.00001
|
NM_000018.4(ACADVL):c.967C>T (p.Leu323=)
|
rs778134085
|
0.00001
|
NM_000018.4(ACADVL):c.969G>A (p.Leu323=)
|
rs749734276
|
0.00001
|
NM_000018.4(ACADVL):c.984T>C (p.Ser328=)
|
rs148803927
|
0.00001
|
NM_000018.4(ACADVL):c.999C>G (p.Ala333=)
|
rs760659262
|
0.00001
|
NM_000019.4(ACAT1):c.1026G>A (p.Leu342=)
|
rs1453736760
|
0.00001
|
NM_000019.4(ACAT1):c.1099T>C (p.Leu367=)
|
rs756978324
|
0.00001
|
NM_000019.4(ACAT1):c.1101G>A (p.Leu367=)
|
rs778512952
|
0.00001
|
NM_000019.4(ACAT1):c.1191T>C (p.His397=)
|
rs1439617035
|
0.00001
|
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
|
rs748749897
|
0.00001
|
NM_000019.4(ACAT1):c.1263C>T (p.Ala421=)
|
rs1382129086
|
0.00001
|
NM_000019.4(ACAT1):c.1281G>A (p.Leu427=)
|
rs1430318016
|
0.00001
|
NM_000019.4(ACAT1):c.129C>T (p.Val43=)
|
rs773917391
|
0.00001
|
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
|
rs763375578
|
0.00001
|
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
|
rs757128075
|
0.00001
|
NM_000019.4(ACAT1):c.267A>G (p.Ala89=)
|
rs1380608828
|
0.00001
|
NM_000019.4(ACAT1):c.348T>C (p.Ser116=)
|
rs372836412
|
0.00001
|
NM_000019.4(ACAT1):c.354A>G (p.Pro118=)
|
rs762367702
|
0.00001
|
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
|
rs536301499
|
0.00001
|
NM_000019.4(ACAT1):c.39C>T (p.Arg13=)
|
rs908924449
|
0.00001
|
NM_000019.4(ACAT1):c.438T>C (p.Asp146=)
|
rs1447450319
|
0.00001
|
NM_000019.4(ACAT1):c.477T>G (p.Val159=)
|
rs1200544048
|
0.00001
|
NM_000019.4(ACAT1):c.48C>T (p.Ser16=)
|
rs1196108614
|
0.00001
|
NM_000019.4(ACAT1):c.532T>C (p.Leu178=)
|
rs370063325
|
0.00001
|
NM_000019.4(ACAT1):c.627T>C (p.Asn209=)
|
rs771160678
|
0.00001
|
NM_000019.4(ACAT1):c.699T>C (p.Asn233=)
|
rs1409696819
|
0.00001
|
NM_000019.4(ACAT1):c.72+13C>T
|
rs780504384
|
0.00001
|
NM_000019.4(ACAT1):c.759T>C (p.Asp253=)
|
rs983216159
|
0.00001
|
NM_000019.4(ACAT1):c.864T>C (p.Asp288=)
|
rs747272327
|
0.00001
|
NM_000019.4(ACAT1):c.867A>C (p.Gly289=)
|
rs201725995
|
0.00001
|
NM_000026.4(ADSL):c.1011-13A>G
|
rs768058696
|
0.00001
|
NM_000026.4(ADSL):c.1011-18T>C
|
rs779350776
|
0.00001
|
NM_000026.4(ADSL):c.1041C>T (p.Thr347=)
|
rs767608764
|
0.00001
|
NM_000026.4(ADSL):c.1071C>T (p.Asn357=)
|
rs1455722783
|
0.00001
|
NM_000026.4(ADSL):c.1089C>T (p.Val363=)
|
rs368373129
|
0.00001
|
NM_000026.4(ADSL):c.1102-15dup
|
rs1413779867
|
0.00001
|
NM_000026.4(ADSL):c.1191+8A>T
|
rs1288865818
|
0.00001
|
NM_000026.4(ADSL):c.1350T>C (p.Thr450=)
|
rs200300396
|
0.00001
|
NM_000026.4(ADSL):c.1369-17T>C
|
rs758511561
|
0.00001
|
NM_000026.4(ADSL):c.1416T>C (p.Tyr472=)
|
rs777123162
|
0.00001
|
NM_000026.4(ADSL):c.1444T>C (p.Leu482=)
|
rs938446288
|
0.00001
|
NM_000026.4(ADSL):c.153+17T>C
|
rs369553804
|
0.00001
|
NM_000026.4(ADSL):c.154-9A>G
|
rs762257005
|
0.00001
|
NM_000026.4(ADSL):c.15C>A (p.Gly5=)
|
rs751781160
|
0.00001
|
NM_000026.4(ADSL):c.255A>G (p.Arg85=)
|
rs747492297
|
0.00001
|
NM_000026.4(ADSL):c.342T>C (p.Tyr114=)
|
rs147017931
|
0.00001
|
NM_000026.4(ADSL):c.358-5C>T
|
rs769856337
|
0.00001
|
NM_000026.4(ADSL):c.417C>T (p.Ile139=)
|
rs1250387068
|
0.00001
|
NM_000026.4(ADSL):c.429C>T (p.Ala143=)
|
rs754065119
|
0.00001
|
NM_000026.4(ADSL):c.42C>T (p.Arg14=)
|
rs768010749
|
0.00001
|
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)
|
rs746180694
|
0.00001
|
NM_000026.4(ADSL):c.465A>G (p.Leu155=)
|
rs139543370
|
0.00001
|
NM_000026.4(ADSL):c.528T>C (p.Ile176=)
|
rs534209963
|
0.00001
|
NM_000026.4(ADSL):c.579G>C (p.Leu193=)
|
rs751928831
|
0.00001
|
NM_000026.4(ADSL):c.655-11T>G
|
rs780906231
|
0.00001
|
NM_000026.4(ADSL):c.702-19C>G
|
rs1396036308
|
0.00001
|
NM_000026.4(ADSL):c.754C>T (p.Leu252=)
|
rs1475251951
|
0.00001
|
NM_000026.4(ADSL):c.789C>T (p.His263=)
|
rs772388333
|
0.00001
|
NM_000026.4(ADSL):c.793-4C>T
|
rs762409643
|
0.00001
|
NM_000026.4(ADSL):c.862+13T>C
|
rs768716895
|
0.00001
|
NM_000026.4(ADSL):c.873G>A (p.Ala291=)
|
rs765122847
|
0.00001
|
NM_000045.4(ARG1):c.147T>C (p.Asp49=)
|
rs1773783430
|
0.00001
|
NM_000045.4(ARG1):c.150T>C (p.Tyr50=)
|
rs1415873396
|
0.00001
|
NM_000045.4(ARG1):c.153G>T (p.Gly51=)
|
rs1320772127
|
0.00001
|
NM_000045.4(ARG1):c.177T>A (p.Pro59=)
|
rs753347547
|
0.00001
|
NM_000045.4(ARG1):c.210A>G (p.Pro70=)
|
rs745580041
|
0.00001
|
NM_000045.4(ARG1):c.294C>T (p.Gly98=)
|
rs763868954
|
0.00001
|
NM_000045.4(ARG1):c.305+7T>C
|
rs886061060
|
0.00001
|
NM_000045.4(ARG1):c.305+8T>C
|
rs764770439
|
0.00001
|
NM_000045.4(ARG1):c.402A>C (p.Thr134=)
|
rs1288330812
|
0.00001
|
NM_000045.4(ARG1):c.42T>A (p.Pro14=)
|
rs939256919
|
0.00001
|
NM_000045.4(ARG1):c.466-12T>C
|
rs371980294
|
0.00001
|
NM_000045.4(ARG1):c.466-14C>T
|
rs1773983345
|
0.00001
|
NM_000045.4(ARG1):c.486C>T (p.Phe162=)
|
rs752966614
|
0.00001
|
NM_000045.4(ARG1):c.501C>A (p.Pro167=)
|
rs1773988131
|
0.00001
|
NM_000045.4(ARG1):c.522T>C (p.Ile174=)
|
rs370289649
|
0.00001
|
NM_000045.4(ARG1):c.543C>T (p.Asp181=)
|
rs745787043
|
0.00001
|
NM_000045.4(ARG1):c.560+10T>C
|
rs527679047
|
0.00001
|
NM_000045.4(ARG1):c.560+18T>A
|
rs760015789
|
0.00001
|
NM_000045.4(ARG1):c.561-19C>A
|
rs746467226
|
0.00001
|
NM_000045.4(ARG1):c.561-5T>C
|
rs768201589
|
0.00001
|
NM_000045.4(ARG1):c.606A>G (p.Glu202=)
|
rs1013928443
|
0.00001
|
NM_000045.4(ARG1):c.665+14G>C
|
rs758420954
|
0.00001
|
NM_000045.4(ARG1):c.720C>T (p.Phe240=)
|
rs762145115
|
0.00001
|
NM_000045.4(ARG1):c.744C>T (p.Val248=)
|
rs556756212
|
0.00001
|
NM_000045.4(ARG1):c.774C>T (p.Leu258=)
|
rs770834693
|
0.00001
|
NM_000045.4(ARG1):c.804G>A (p.Gly268=)
|
rs747275658
|
0.00001
|
NM_000045.4(ARG1):c.843C>T (p.Ser281=)
|
rs771010341
|
0.00001
|
NM_000048.4(ASL):c.1014T>C (p.Thr338=)
|
rs1396048492
|
0.00001
|
NM_000048.4(ASL):c.1059G>T (p.Leu353=)
|
rs771658402
|
0.00001
|
NM_000048.4(ASL):c.1101C>T (p.Asp367=)
|
rs199891488
|
0.00001
|
NM_000048.4(ASL):c.1113T>G (p.Thr371=)
|
rs1466517161
|
0.00001
|
NM_000048.4(ASL):c.1143+8T>C
|
rs1015804553
|
0.00001
|
NM_000048.4(ASL):c.1143+9G>A
|
rs368891277
|
0.00001
|
NM_000048.4(ASL):c.1173C>T (p.Ser391=)
|
rs1436177232
|
0.00001
|
NM_000048.4(ASL):c.12+10A>T
|
rs746934631
|
0.00001
|
NM_000048.4(ASL):c.1230G>C (p.Leu410=)
|
rs1397223617
|
0.00001
|
NM_000048.4(ASL):c.1239G>T (p.Leu413=)
|
rs780205992
|
0.00001
|
NM_000048.4(ASL):c.1250+13C>T
|
rs879422673
|
0.00001
|
NM_000048.4(ASL):c.1260C>T (p.Phe420=)
|
rs1208131360
|
0.00001
|
NM_000048.4(ASL):c.1269C>T (p.Asp423=)
|
rs1420011973
|
0.00001
|
NM_000048.4(ASL):c.1275C>T (p.Ile425=)
|
rs771218861
|
0.00001
|
NM_000048.4(ASL):c.1290C>T (p.Tyr430=)
|
rs780846396
|
0.00001
|
NM_000048.4(ASL):c.1299T>C (p.Ser433=)
|
rs764807922
|
0.00001
|
NM_000048.4(ASL):c.1308G>A (p.Gln436=)
|
rs751302378
|
0.00001
|
NM_000048.4(ASL):c.1311T>C (p.Tyr437=)
|
rs932494060
|
0.00001
|
NM_000048.4(ASL):c.1318C>T (p.Leu440=)
|
rs146274715
|
0.00001
|
NM_000048.4(ASL):c.1319T>C (p.Leu440Pro)
|
rs752915686
|
0.00001
|
NM_000048.4(ASL):c.1332G>A (p.Ala444=)
|
rs1020745415
|
0.00001
|
NM_000048.4(ASL):c.1341C>T (p.Ser447=)
|
rs558327619
|
0.00001
|
NM_000048.4(ASL):c.1344C>T (p.Val448=)
|
rs144011206
|
0.00001
|
NM_000048.4(ASL):c.141G>A (p.Arg47=)
|
rs569936169
|
0.00001
|
NM_000048.4(ASL):c.195T>C (p.His65=)
|
rs1431884873
|
0.00001
|
NM_000048.4(ASL):c.246C>T (p.Asn82=)
|
rs1281983139
|
0.00001
|
NM_000048.4(ASL):c.279G>A (p.Glu93=)
|
rs1228047537
|
0.00001
|
NM_000048.4(ASL):c.292-14C>T
|
rs376560894
|
0.00001
|
NM_000048.4(ASL):c.306A>G (p.Ala102=)
|
rs192537483
|
0.00001
|
NM_000048.4(ASL):c.308C>T (p.Thr103Met)
|
rs768087423
|
0.00001
|
NM_000048.4(ASL):c.312A>G (p.Ala104=)
|
rs1398461862
|
0.00001
|
NM_000048.4(ASL):c.327G>A (p.Thr109=)
|
rs766185326
|
0.00001
|
NM_000048.4(ASL):c.446+7C>A
|
rs1224014280
|
0.00001
|
NM_000048.4(ASL):c.462C>T (p.Leu154=)
|
rs1303394917
|
0.00001
|
NM_000048.4(ASL):c.468G>A (p.Pro156=)
|
rs748316235
|
0.00001
|
NM_000048.4(ASL):c.474C>T (p.Tyr158=)
|
rs1361999742
|
0.00001
|
NM_000048.4(ASL):c.552T>C (p.Ser184=)
|
rs1786675333
|
0.00001
|
NM_000048.4(ASL):c.582C>T (p.Ile194=)
|
rs746394101
|
0.00001
|
NM_000048.4(ASL):c.585T>C (p.Asn195=)
|
rs772416006
|
0.00001
|
NM_000048.4(ASL):c.588C>T (p.Val196=)
|
rs114242623
|
0.00001
|
NM_000048.4(ASL):c.603-5T>C
|
rs367999318
|
0.00001
|
NM_000048.4(ASL):c.615A>G (p.Ala205=)
|
rs775013928
|
0.00001
|
NM_000048.4(ASL):c.625C>T (p.Leu209=)
|
rs1484116994
|
0.00001
|
NM_000048.4(ASL):c.633G>T (p.Val211=)
|
rs1326733063
|
0.00001
|
NM_000048.4(ASL):c.642G>A (p.Glu214=)
|
rs1427327330
|
0.00001
|
NM_000048.4(ASL):c.655+7C>T
|
rs755546894
|
0.00001
|
NM_000048.4(ASL):c.660C>T (p.Leu220=)
|
rs1562741433
|
0.00001
|
NM_000048.4(ASL):c.693T>C (p.Asp231=)
|
rs1312699116
|
0.00001
|
NM_000048.4(ASL):c.708G>C (p.Arg236=)
|
rs1206710088
|
0.00001
|
NM_000048.4(ASL):c.720C>T (p.Ala240=)
|
rs764072757
|
0.00001
|
NM_000048.4(ASL):c.789C>T (p.Tyr263=)
|
rs1388633554
|
0.00001
|
NM_000048.4(ASL):c.795C>T (p.Thr265=)
|
rs757101256
|
0.00001
|
NM_000048.4(ASL):c.833+10G>A
|
rs544134586
|
0.00001
|
NM_000048.4(ASL):c.833+16C>T
|
rs949611035
|
0.00001
|
NM_000048.4(ASL):c.834-14A>G
|
rs1786759930
|
0.00001
|
NM_000048.4(ASL):c.979-8C>T
|
rs781673231
|
0.00001
|
NM_000048.4(ASL):c.981G>A (p.Glu327=)
|
rs770579327
|
0.00001
|
NM_000071.3(CBS):c.1005C>T (p.Ala335=)
|
rs753731849
|
0.00001
|
NM_000071.3(CBS):c.1020G>A (p.Ala340=)
|
rs768294788
|
0.00001
|
NM_000071.3(CBS):c.1029G>C (p.Gly343=)
|
rs1332776421
|
0.00001
|
NM_000071.3(CBS):c.1035G>T (p.Leu345=)
|
rs746340769
|
0.00001
|
NM_000071.3(CBS):c.1065G>A (p.Ala355=)
|
rs748552493
|
0.00001
|
NM_000071.3(CBS):c.1110C>T (p.Cys370=)
|
rs752404089
|
0.00001
|
NM_000071.3(CBS):c.1145+9C>T
|
rs745997797
|
0.00001
|
NM_000071.3(CBS):c.1146-5C>T
|
rs941685349
|
0.00001
|
NM_000071.3(CBS):c.1155C>T (p.Phe385=)
|
rs754691256
|
0.00001
|
NM_000071.3(CBS):c.1224-6C>T
|
rs755369737
|
0.00001
|
NM_000071.3(CBS):c.126G>C (p.Leu42=)
|
rs752812436
|
0.00001
|
NM_000071.3(CBS):c.1299C>T (p.His433=)
|
rs1188405012
|
0.00001
|
NM_000071.3(CBS):c.1329C>T (p.Phe443=)
|
rs747186128
|
0.00001
|
NM_000071.3(CBS):c.1332C>T (p.Asp444=)
|
rs1060503998
|
0.00001
|
NM_000071.3(CBS):c.1398G>A (p.Ser466=)
|
rs766199408
|
0.00001
|
NM_000071.3(CBS):c.144T>G (p.Ala48=)
|
rs770839773
|
0.00001
|
NM_000071.3(CBS):c.1452C>T (p.Tyr484=)
|
rs776806222
|
0.00001
|
NM_000071.3(CBS):c.1497C>G (p.Leu499=)
|
rs1477206467
|
0.00001
|
NM_000071.3(CBS):c.1551G>A (p.Gln517=)
|
rs750311684
|
0.00001
|
NM_000071.3(CBS):c.1553-13G>A
|
rs766380369
|
0.00001
|
NM_000071.3(CBS):c.15C>T (p.Thr5=)
|
rs137920248
|
0.00001
|
NM_000071.3(CBS):c.168G>A (p.Leu56=)
|
rs752055364
|
0.00001
|
NM_000071.3(CBS):c.180C>T (p.Ala60=)
|
rs755282601
|
0.00001
|
NM_000071.3(CBS):c.390T>C (p.Ala130=)
|
rs758553912
|
0.00001
|
NM_000071.3(CBS):c.399C>T (p.Asp133=)
|
rs200362321
|
0.00001
|
NM_000071.3(CBS):c.447C>T (p.Asn149=)
|
rs1457546374
|
0.00001
|
NM_000071.3(CBS):c.532-8T>C
|
rs775695225
|
0.00001
|
NM_000071.3(CBS):c.564T>C (p.Ile188=)
|
rs771803581
|
0.00001
|
NM_000071.3(CBS):c.666+10C>A
|
rs773040114
|
0.00001
|
NM_000071.3(CBS):c.675C>T (p.Asn225=)
|
rs145303290
|
0.00001
|
NM_000071.3(CBS):c.687C>T (p.Pro229=)
|
rs769298649
|
0.00001
|
NM_000071.3(CBS):c.72G>A (p.Ala24=)
|
rs145466242
|
0.00001
|
NM_000071.3(CBS):c.736+7C>T
|
rs757332652
|
0.00001
|
NM_000071.3(CBS):c.737-11C>T
|
rs769967427
|
0.00001
|
NM_000071.3(CBS):c.840G>A (p.Val280=)
|
rs1060500682
|
0.00001
|
NM_000071.3(CBS):c.870G>A (p.Pro290=)
|
rs773580068
|
0.00001
|
NM_000071.3(CBS):c.984T>C (p.Asp328=)
|
rs752829651
|
0.00001
|
NM_000071.3(CBS):c.993G>A (p.Ala331=)
|
rs759398443
|
0.00001
|
NM_000108.5(DLD):c.1032A>G (p.Gln344=)
|
rs762641521
|
0.00001
|
NM_000108.5(DLD):c.1101G>A (p.Glu367=)
|
rs377345899
|
0.00001
|
NM_000108.5(DLD):c.1161T>C (p.Asn387=)
|
rs1232556757
|
0.00001
|
NM_000108.5(DLD):c.1182C>T (p.Tyr394=)
|
rs757087726
|
0.00001
|
NM_000108.5(DLD):c.119-5C>T
|
rs377653882
|
0.00001
|
NM_000108.5(DLD):c.1236+9G>A
|
rs780911500
|
0.00001
|
NM_000108.5(DLD):c.1266A>G (p.Pro422=)
|
rs766756785
|
0.00001
|
NM_000108.5(DLD):c.1275T>C (p.Ala425=)
|
rs751879528
|
0.00001
|
NM_000108.5(DLD):c.1374+8T>C
|
rs768177436
|
0.00001
|
NM_000108.5(DLD):c.1443T>G (p.Ala481=)
|
rs775957704
|
0.00001
|
NM_000108.5(DLD):c.1467C>A (p.Thr489=)
|
rs1381413555
|
0.00001
|
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
|
rs773097788
|
0.00001
|
NM_000108.5(DLD):c.199-4G>T
|
rs763348101
|
0.00001
|
NM_000108.5(DLD):c.199-7G>T
|
rs1358100638
|
0.00001
|
NM_000108.5(DLD):c.204C>G (p.Val68=)
|
rs553951105
|
0.00001
|
NM_000108.5(DLD):c.24C>T (p.Tyr8=)
|
rs778122189
|
0.00001
|
NM_000108.5(DLD):c.268-19T>C
|
rs373587265
|
0.00001
|
NM_000108.5(DLD):c.268-7C>T
|
rs1584463325
|
0.00001
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
NM_000108.5(DLD):c.387T>A (p.Thr129=)
|
rs748122031
|
0.00001
|
NM_000108.5(DLD):c.39+11A>C
|
rs2031564900
|
0.00001
|
NM_000108.5(DLD):c.393A>G (p.Val131=)
|
rs773013949
|
0.00001
|
NM_000108.5(DLD):c.417C>G (p.Ala139=)
|
rs759291025
|
0.00001
|
NM_000108.5(DLD):c.504T>C (p.Asp168=)
|
rs1291877622
|
0.00001
|
NM_000108.5(DLD):c.540T>C (p.Leu180=)
|
rs369876154
|
0.00001
|
NM_000108.5(DLD):c.57A>T (p.Arg19=)
|
rs754899464
|
0.00001
|
NM_000108.5(DLD):c.606A>T (p.Ser202=)
|
rs1362069416
|
0.00001
|
NM_000108.5(DLD):c.669A>C (p.Val223=)
|
rs764478905
|
0.00001
|
NM_000108.5(DLD):c.684+9T>A
|
rs1160897223
|
0.00001
|
NM_000108.5(DLD):c.741T>C (p.His247=)
|
rs781000040
|
0.00001
|
NM_000108.5(DLD):c.96G>C (p.Leu32=)
|
rs765623212
|
0.00001
|
NM_000116.5(TAFAZZIN):c.110-6C>G
|
rs782099193
|
0.00001
|
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)
|
rs782470471
|
0.00001
|
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=)
|
rs782223969
|
0.00001
|
NM_000116.5(TAFAZZIN):c.238+11C>G
|
rs1163786089
|
0.00001
|
NM_000116.5(TAFAZZIN):c.461-16G>C
|
rs782759146
|
0.00001
|
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=)
|
rs1603381303
|
0.00001
|
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=)
|
rs782498534
|
0.00001
|
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)
|
rs781846964
|
0.00001
|
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=)
|
rs587781186
|
0.00001
|
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=)
|
rs372610945
|
0.00001
|
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=)
|
rs782123597
|
0.00001
|
NM_000116.5(TAFAZZIN):c.700-5C>T
|
rs782731479
|
0.00001
|
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=)
|
rs1042313041
|
0.00001
|
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=)
|
rs368990588
|
0.00001
|
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=)
|
rs782273950
|
0.00001
|
NM_000126.4(ETFA):c.187-4A>T
|
rs745823838
|
0.00001
|
NM_000126.4(ETFA):c.21G>C (p.Pro7=)
|
rs903002200
|
0.00001
|
NM_000126.4(ETFA):c.264T>A (p.Leu88=)
|
rs1405829462
|
0.00001
|
NM_000126.4(ETFA):c.269-5C>T
|
rs2039776155
|
0.00001
|
NM_000126.4(ETFA):c.273A>G (p.Glu91=)
|
rs1043494451
|
0.00001
|
NM_000126.4(ETFA):c.283T>C (p.Leu95=)
|
rs759065701
|
0.00001
|
NM_000126.4(ETFA):c.30C>T (p.Leu10=)
|
rs1042921735
|
0.00001
|
NM_000126.4(ETFA):c.321C>T (p.His107=)
|
rs368550471
|
0.00001
|
NM_000126.4(ETFA):c.342C>T (p.Ala114=)
|
rs1306072739
|
0.00001
|
NM_000126.4(ETFA):c.351+10T>C
|
rs768357479
|
0.00001
|
NM_000126.4(ETFA):c.354C>T (p.Asn118=)
|
rs761728625
|
0.00001
|
NM_000126.4(ETFA):c.393G>A (p.Pro131=)
|
rs769299291
|
0.00001
|
NM_000126.4(ETFA):c.452-11del
|
rs764215608
|
0.00001
|
NM_000126.4(ETFA):c.564A>G (p.Ala188=)
|
rs752534473
|
0.00001
|
NM_000126.4(ETFA):c.654G>A (p.Val218=)
|
rs779655385
|
0.00001
|
NM_000126.4(ETFA):c.678G>A (p.Lys226=)
|
rs774023966
|
0.00001
|
NM_000126.4(ETFA):c.759T>C (p.Asp253=)
|
rs142970498
|
0.00001
|
NM_000126.4(ETFA):c.78T>C (p.Ala26=)
|
rs773298687
|
0.00001
|
NM_000126.4(ETFA):c.831T>C (p.Ala277=)
|
rs371149279
|
0.00001
|
NM_000126.4(ETFA):c.883-10T>C
|
rs1289782242
|
0.00001
|
NM_000126.4(ETFA):c.883-14T>A
|
rs2038999587
|
0.00001
|
NM_000126.4(ETFA):c.951A>G (p.Ala317=)
|
rs750192285
|
0.00001
|
NM_000126.4(ETFA):c.964-4G>A
|
rs777742977
|
0.00001
|
NM_000137.4(FAH):c.1110G>A (p.Thr370=)
|
rs765686036
|
0.00001
|
NM_000137.4(FAH):c.1113G>A (p.Lys371=)
|
rs1171924945
|
0.00001
|
NM_000137.4(FAH):c.1119A>C (p.Ile373=)
|
rs764155500
|
0.00001
|
NM_000137.4(FAH):c.1122C>T (p.Asp374=)
|
rs1173090424
|
0.00001
|
NM_000137.4(FAH):c.1158C>T (p.Asp386=)
|
rs767824538
|
0.00001
|
NM_000137.4(FAH):c.1180+10G>A
|
rs758464032
|
0.00001
|
NM_000137.4(FAH):c.1188C>T (p.Cys396=)
|
rs746752457
|
0.00001
|
NM_000137.4(FAH):c.1194G>A (p.Gly398=)
|
rs780323996
|
0.00001
|
NM_000137.4(FAH):c.1236G>A (p.Val412=)
|
rs761729916
|
0.00001
|
NM_000137.4(FAH):c.141G>A (p.Lys47=)
|
rs1202678414
|
0.00001
|
NM_000137.4(FAH):c.237G>A (p.Lys79=)
|
rs1490117712
|
0.00001
|
NM_000137.4(FAH):c.261C>T (p.Asn87=)
|
rs763985544
|
0.00001
|
NM_000137.4(FAH):c.296A>G (p.Asp99Gly)
|
rs547847694
|
0.00001
|
NM_000137.4(FAH):c.300C>T (p.Thr100=)
|
rs567587933
|
0.00001
|
NM_000137.4(FAH):c.315-9G>A
|
rs768269250
|
0.00001
|
NM_000137.4(FAH):c.318A>G (p.Ala106=)
|
rs141827305
|
0.00001
|
NM_000137.4(FAH):c.33C>T (p.Asp11=)
|
rs1276283182
|
0.00001
|
NM_000137.4(FAH):c.387C>T (p.Ser129=)
|
rs770974311
|
0.00001
|
NM_000137.4(FAH):c.442T>C (p.Leu148=)
|
rs139430892
|
0.00001
|
NM_000137.4(FAH):c.455+19G>C
|
rs774022499
|
0.00001
|
NM_000137.4(FAH):c.492C>T (p.Ser164=)
|
rs754416947
|
0.00001
|
NM_000137.4(FAH):c.498C>T (p.Val166=)
|
rs143712599
|
0.00001
|
NM_000137.4(FAH):c.528C>T (p.Pro176=)
|
rs1299029114
|
0.00001
|
NM_000137.4(FAH):c.553+7G>A
|
rs2041210647
|
0.00001
|
NM_000137.4(FAH):c.699C>T (p.Asp233=)
|
rs1358109972
|
0.00001
|
NM_000137.4(FAH):c.723G>A (p.Lys241=)
|
rs199995781
|
0.00001
|
NM_000137.4(FAH):c.729G>A (p.Glu243=)
|
rs1283645707
|
0.00001
|
NM_000137.4(FAH):c.759G>A (p.Lys253=)
|
rs750572597
|
0.00001
|
NM_000137.4(FAH):c.783G>A (p.Pro261=)
|
rs777792671
|
0.00001
|
NM_000137.4(FAH):c.913+8G>A
|
rs1245028497
|
0.00001
|
NM_000137.4(FAH):c.933G>A (p.Ala311=)
|
rs375166793
|
0.00001
|
NM_000137.4(FAH):c.960+12C>T
|
rs370507945
|
0.00001
|
NM_000156.6(GAMT):c.153C>T (p.His51=)
|
rs760366501
|
0.00001
|
NM_000156.6(GAMT):c.198G>A (p.Glu66=)
|
rs772132045
|
0.00001
|
NM_000156.6(GAMT):c.207T>C (p.Phe69=)
|
rs1334995399
|
0.00001
|
NM_000156.6(GAMT):c.228A>T (p.Ser76=)
|
rs752364729
|
0.00001
|
NM_000156.6(GAMT):c.267C>T (p.Ile89=)
|
rs1457175740
|
0.00001
|
NM_000156.6(GAMT):c.282C>T (p.Gly94=)
|
rs771191011
|
0.00001
|
NM_000156.6(GAMT):c.312A>G (p.Pro104=)
|
rs779679242
|
0.00001
|
NM_000156.6(GAMT):c.372G>A (p.Leu124=)
|
rs748762855
|
0.00001
|
NM_000156.6(GAMT):c.384C>T (p.His128=)
|
rs1310922766
|
0.00001
|
NM_000156.6(GAMT):c.391+17C>T
|
rs374989534
|
0.00001
|
NM_000156.6(GAMT):c.391+18G>A
|
rs765964500
|
0.00001
|
NM_000156.6(GAMT):c.392-19G>T
|
rs1031492095
|
0.00001
|
NM_000156.6(GAMT):c.392-6G>A
|
rs753979877
|
0.00001
|
NM_000156.6(GAMT):c.408G>A (p.Thr136=)
|
rs772974568
|
0.00001
|
NM_000156.6(GAMT):c.414A>G (p.Pro138=)
|
rs1376380710
|
0.00001
|
NM_000156.6(GAMT):c.426G>A (p.Glu142=)
|
rs372673897
|
0.00001
|
NM_000156.6(GAMT):c.438A>G (p.Thr146=)
|
rs80338733
|
0.00001
|
NM_000156.6(GAMT):c.459+17T>C
|
rs1057522464
|
0.00001
|
NM_000156.6(GAMT):c.460-6C>T
|
rs777981486
|
0.00001
|
NM_000156.6(GAMT):c.475C>T (p.Leu159=)
|
rs765014324
|
0.00001
|
NM_000156.6(GAMT):c.492C>T (p.Gly164=)
|
rs1555777026
|
0.00001
|
NM_000156.6(GAMT):c.570+9A>C
|
rs763489091
|
0.00001
|
NM_000156.6(GAMT):c.571-8C>T
|
rs1344390513
|
0.00001
|
NM_000156.6(GAMT):c.588G>A (p.Ala196=)
|
rs747909654
|
0.00001
|
NM_000156.6(GAMT):c.624T>C (p.Arg208=)
|
rs759873807
|
0.00001
|
NM_000156.6(GAMT):c.627G>A (p.Thr209=)
|
rs1012771142
|
0.00001
|
NM_000156.6(GAMT):c.639G>A (p.Ala213=)
|
rs373479245
|
0.00001
|
NM_000156.6(GAMT):c.654C>T (p.Ala218=)
|
rs561375487
|
0.00001
|
NM_000156.6(GAMT):c.672C>T (p.Ala224=)
|
rs2082606258
|
0.00001
|
NM_000156.6(GAMT):c.675C>T (p.Phe225=)
|
rs761788121
|
0.00001
|
NM_000156.6(GAMT):c.690G>A (p.Thr230=)
|
rs763944598
|
0.00001
|
NM_000159.4(GCDH):c.1014C>T (p.Asp338=)
|
rs1400225199
|
0.00001
|
NM_000159.4(GCDH):c.1051C>T (p.Leu351=)
|
rs1306667649
|
0.00001
|
NM_000159.4(GCDH):c.1077G>A (p.Gln359=)
|
rs947840778
|
0.00001
|
NM_000159.4(GCDH):c.1082+8C>T
|
rs199627852
|
0.00001
|
NM_000159.4(GCDH):c.1108C>T (p.Leu370=)
|
rs747792184
|
0.00001
|
NM_000159.4(GCDH):c.1114A>C (p.Arg372=)
|
rs771924230
|
0.00001
|
NM_000159.4(GCDH):c.1131A>G (p.Lys377=)
|
rs139241235
|
0.00001
|
NM_000159.4(GCDH):c.1140C>T (p.Asp380=)
|
rs760363668
|
0.00001
|
NM_000159.4(GCDH):c.117A>G (p.Gln39=)
|
rs752609314
|
0.00001
|
NM_000159.4(GCDH):c.1236C>T (p.Thr412=)
|
rs767895203
|
0.00001
|
NM_000159.4(GCDH):c.1239C>T (p.Tyr413=)
|
rs776082304
|
0.00001
|
NM_000159.4(GCDH):c.1244-4C>A
|
rs774546166
|
0.00001
|
NM_000159.4(GCDH):c.1260C>T (p.His420=)
|
rs777575306
|
0.00001
|
NM_000159.4(GCDH):c.1266G>A (p.Leu422=)
|
rs148091111
|
0.00001
|
NM_000159.4(GCDH):c.1269C>T (p.Ile423=)
|
rs1336423127
|
0.00001
|
NM_000159.4(GCDH):c.129C>T (p.Ser43=)
|
rs144678094
|
0.00001
|
NM_000159.4(GCDH):c.207C>T (p.Asp69=)
|
rs752123594
|
0.00001
|
NM_000159.4(GCDH):c.209C>A (p.Thr70Asn)
|
rs770537412
|
0.00001
|
NM_000159.4(GCDH):c.294G>A (p.Ser98=)
|
rs774554314
|
0.00001
|
NM_000159.4(GCDH):c.334+15C>T
|
rs200188623
|
0.00001
|
NM_000159.4(GCDH):c.334+7A>G
|
rs1970575048
|
0.00001
|
NM_000159.4(GCDH):c.42A>T (p.Gly14=)
|
rs891920390
|
0.00001
|
NM_000159.4(GCDH):c.435C>T (p.Ser145=)
|
rs1239198957
|
0.00001
|
NM_000159.4(GCDH):c.489G>A (p.Lys163=)
|
rs1198939173
|
0.00001
|
NM_000159.4(GCDH):c.49C>T (p.Leu17=)
|
rs1295141904
|
0.00001
|
NM_000159.4(GCDH):c.505+13C>G
|
rs780526140
|
0.00001
|
NM_000159.4(GCDH):c.505+20G>T
|
rs1057522095
|
0.00001
|
NM_000159.4(GCDH):c.506-10G>A
|
rs753347860
|
0.00001
|
NM_000159.4(GCDH):c.506-4G>A
|
rs1367182882
|
0.00001
|
NM_000159.4(GCDH):c.612C>T (p.Tyr204=)
|
rs777957599
|
0.00001
|
NM_000159.4(GCDH):c.635+20G>A
|
rs1351975861
|
0.00001
|
NM_000159.4(GCDH):c.657C>T (p.Ala219=)
|
rs757621195
|
0.00001
|
NM_000159.4(GCDH):c.6C>T (p.Ala2=)
|
rs1970548169
|
0.00001
|
NM_000159.4(GCDH):c.709C>T (p.Leu237=)
|
rs1237461659
|
0.00001
|
NM_000159.4(GCDH):c.711G>A (p.Leu237=)
|
rs1970676956
|
0.00001
|
NM_000159.4(GCDH):c.75G>T (p.Ser25=)
|
rs1475316070
|
0.00001
|
NM_000159.4(GCDH):c.768G>A (p.Leu256=)
|
rs1970679799
|
0.00001
|
NM_000159.4(GCDH):c.826G>T (p.Val276Leu)
|
rs763300541
|
0.00001
|
NM_000159.4(GCDH):c.837T>C (p.Gly279=)
|
rs767543724
|
0.00001
|
NM_000159.4(GCDH):c.849G>C (p.Leu283=)
|
rs777665473
|
0.00001
|
NM_000159.4(GCDH):c.912T>C (p.Ala304=)
|
rs780703352
|
0.00001
|
NM_000159.4(GCDH):c.948C>T (p.Ala316=)
|
rs772743499
|
0.00001
|
NM_000159.4(GCDH):c.951C>T (p.Leu317=)
|
rs886450662
|
0.00001
|
NM_000159.4(GCDH):c.957-8C>T
|
rs776644984
|
0.00001
|
NM_000159.4(GCDH):c.972C>T (p.Val324=)
|
rs149646305
|
0.00001
|
NM_000161.3(GCH1):c.150G>A (p.Ala50=)
|
rs1001181151
|
0.00001
|
NM_000161.3(GCH1):c.153C>T (p.Asp51=)
|
rs745516526
|
0.00001
|
NM_000161.3(GCH1):c.204C>T (p.Leu68=)
|
rs557778839
|
0.00001
|
NM_000161.3(GCH1):c.294G>T (p.Ala98=)
|
rs765416856
|
0.00001
|
NM_000161.3(GCH1):c.300G>A (p.Ser100=)
|
rs777068790
|
0.00001
|
NM_000161.3(GCH1):c.344-15A>G
|
rs1181987843
|
0.00001
|
NM_000161.3(GCH1):c.408C>T (p.Asp136=)
|
rs753357224
|
0.00001
|
NM_000161.3(GCH1):c.42G>A (p.Arg14=)
|
rs1248275477
|
0.00001
|
NM_000161.3(GCH1):c.510-14T>A
|
rs748309367
|
0.00001
|
NM_000161.3(GCH1):c.541+15T>C
|
rs780398294
|
0.00001
|
NM_000161.3(GCH1):c.592C>A (p.Arg198=)
|
rs752447862
|
0.00001
|
NM_000161.3(GCH1):c.626+20T>C
|
rs775439923
|
0.00001
|
NM_000161.3(GCH1):c.691T>C (p.Leu231=)
|
rs915108762
|
0.00001
|
NM_000170.3(GLDC):c.1035T>G (p.Pro345=)
|
rs759830992
|
0.00001
|
NM_000170.3(GLDC):c.1050G>A (p.Gly350=)
|
rs771910050
|
0.00001
|
NM_000170.3(GLDC):c.1058+7G>A
|
rs1291062152
|
0.00001
|
NM_000170.3(GLDC):c.1058+8G>A
|
rs1230501747
|
0.00001
|
NM_000170.3(GLDC):c.1080G>T (p.Val360=)
|
rs745502236
|
0.00001
|
NM_000170.3(GLDC):c.1156-10T>C
|
rs748599108
|
0.00001
|
NM_000170.3(GLDC):c.1210C>T (p.Leu404=)
|
rs781450542
|
0.00001
|
NM_000170.3(GLDC):c.1215G>A (p.Glu405=)
|
rs771135075
|
0.00001
|
NM_000170.3(GLDC):c.1261+16G>A
|
rs760139834
|
0.00001
|
NM_000170.3(GLDC):c.1332C>T (p.Cys444=)
|
rs781050148
|
0.00001
|
NM_000170.3(GLDC):c.1359C>T (p.Ala453=)
|
rs766839627
|
0.00001
|
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln)
|
rs767652664
|
0.00001
|
NM_000170.3(GLDC):c.1398C>T (p.Gly466=)
|
rs746977015
|
0.00001
|
NM_000170.3(GLDC):c.1402-10G>A
|
rs199516238
|
0.00001
|
NM_000170.3(GLDC):c.1402-14T>G
|
rs376719104
|
0.00001
|
NM_000170.3(GLDC):c.1443G>C (p.Leu481=)
|
rs1334045011
|
0.00001
|
NM_000170.3(GLDC):c.1447G>A (p.Asp483Asn)
|
rs753029511
|
0.00001
|
NM_000170.3(GLDC):c.1452G>A (p.Leu484=)
|
rs766071661
|
0.00001
|
NM_000170.3(GLDC):c.1482+13A>G
|
rs374894047
|
0.00001
|
NM_000170.3(GLDC):c.1485A>G (p.Glu495=)
|
rs747500252
|
0.00001
|
NM_000170.3(GLDC):c.1560C>G (p.Leu520=)
|
rs748612685
|
0.00001
|
NM_000170.3(GLDC):c.156C>T (p.Leu52=)
|
rs779860452
|
0.00001
|
NM_000170.3(GLDC):c.1572G>A (p.Val524=)
|
rs373679781
|
0.00001
|
NM_000170.3(GLDC):c.1581-11T>G
|
rs764656980
|
0.00001
|
NM_000170.3(GLDC):c.1665+7A>T
|
rs759573888
|
0.00001
|
NM_000170.3(GLDC):c.1666-20T>C
|
rs912148549
|
0.00001
|
NM_000170.3(GLDC):c.1666-4A>T
|
rs909685694
|
0.00001
|
NM_000170.3(GLDC):c.1666-7C>T
|
rs1298989281
|
0.00001
|
NM_000170.3(GLDC):c.1684C>T (p.Leu562=)
|
rs773483552
|
0.00001
|
NM_000170.3(GLDC):c.1689C>T (p.Asn563=)
|
rs546431385
|
0.00001
|
NM_000170.3(GLDC):c.1708-10T>C
|
rs1818291131
|
0.00001
|
NM_000170.3(GLDC):c.1734C>T (p.Asn578=)
|
rs1034614089
|
0.00001
|
NM_000170.3(GLDC):c.1737C>T (p.Ile579=)
|
rs746477003
|
0.00001
|
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)
|
rs765268971
|
0.00001
|
NM_000170.3(GLDC):c.1850+7G>A
|
rs1334727362
|
0.00001
|
NM_000170.3(GLDC):c.1851C>T (p.Ser617=)
|
rs777724341
|
0.00001
|
NM_000170.3(GLDC):c.1878G>A (p.Leu626=)
|
rs1360717642
|
0.00001
|
NM_000170.3(GLDC):c.1917G>A (p.Gly639=)
|
rs776998782
|
0.00001
|
NM_000170.3(GLDC):c.1926+7A>T
|
rs1381047073
|
0.00001
|
NM_000170.3(GLDC):c.1941G>A (p.Pro647=)
|
rs1232468588
|
0.00001
|
NM_000170.3(GLDC):c.1953T>C (p.His651=)
|
rs777613879
|
0.00001
|
NM_000170.3(GLDC):c.1956G>C (p.Gly652=)
|
rs1221597797
|
0.00001
|
NM_000170.3(GLDC):c.2019T>C (p.Tyr673=)
|
rs774506115
|
0.00001
|
NM_000170.3(GLDC):c.2022G>C (p.Gly674=)
|
rs768923849
|
0.00001
|
NM_000170.3(GLDC):c.2052+7G>C
|
rs755812288
|
0.00001
|
NM_000170.3(GLDC):c.2070G>A (p.Glu690=)
|
rs1817629842
|
0.00001
|
NM_000170.3(GLDC):c.2106C>T (p.Thr702=)
|
rs751926697
|
0.00001
|
NM_000170.3(GLDC):c.2115G>A (p.Val705=)
|
rs765205689
|
0.00001
|
NM_000170.3(GLDC):c.2139G>A (p.Val713=)
|
rs763944767
|
0.00001
|
NM_000170.3(GLDC):c.2145C>T (p.Asp715=)
|
rs769158507
|
0.00001
|
NM_000170.3(GLDC):c.2202+9T>G
|
rs765177412
|
0.00001
|
NM_000170.3(GLDC):c.2262G>A (p.Lys754=)
|
rs954961288
|
0.00001
|
NM_000170.3(GLDC):c.2271C>T (p.Cys757=)
|
rs770961258
|
0.00001
|
NM_000170.3(GLDC):c.2280C>T (p.His760=)
|
rs777816136
|
0.00001
|
NM_000170.3(GLDC):c.2315+7T>C
|
rs747009828
|
0.00001
|
NM_000170.3(GLDC):c.2315+8C>T
|
rs773354023
|
0.00001
|
NM_000170.3(GLDC):c.2316-10A>C
|
rs1046747265
|
0.00001
|
NM_000170.3(GLDC):c.2316-17A>G
|
rs1263329857
|
0.00001
|
NM_000170.3(GLDC):c.2412A>G (p.Pro804=)
|
rs1008088665
|
0.00001
|
NM_000170.3(GLDC):c.2457+10G>A
|
rs771927272
|
0.00001
|
NM_000170.3(GLDC):c.2469C>G (p.Gly823=)
|
rs1216155531
|
0.00001
|
NM_000170.3(GLDC):c.2472G>A (p.Lys824=)
|
rs1286626531
|
0.00001
|
NM_000170.3(GLDC):c.2499G>A (p.Ala833=)
|
rs767267571
|
0.00001
|
NM_000170.3(GLDC):c.2523C>T (p.Ala841=)
|
rs762805307
|
0.00001
|
NM_000170.3(GLDC):c.256-15G>A
|
rs189719025
|
0.00001
|
NM_000170.3(GLDC):c.2666-4G>C
|
rs1007363577
|
0.00001
|
NM_000170.3(GLDC):c.2670T>C (p.Phe890=)
|
rs760961076
|
0.00001
|
NM_000170.3(GLDC):c.268T>C (p.Leu90=)
|
rs771631849
|
0.00001
|
NM_000170.3(GLDC):c.2697G>A (p.Val899=)
|
rs780535258
|
0.00001
|
NM_000170.3(GLDC):c.2706C>T (p.Thr902=)
|
rs752943013
|
0.00001
|
NM_000170.3(GLDC):c.2718G>A (p.Glu906=)
|
rs1463086398
|
0.00001
|
NM_000170.3(GLDC):c.273C>T (p.Ile91=)
|
rs1335911770
|
0.00001
|
NM_000170.3(GLDC):c.2742A>T (p.Ala914=)
|
rs374022098
|
0.00001
|
NM_000170.3(GLDC):c.2793T>A (p.Ala931=)
|
rs367759326
|
0.00001
|
NM_000170.3(GLDC):c.2814C>T (p.Ile938=)
|
rs750518195
|
0.00001
|
NM_000170.3(GLDC):c.2820C>T (p.Pro940=)
|
rs1355492624
|
0.00001
|
NM_000170.3(GLDC):c.282G>A (p.Thr94=)
|
rs769003941
|
0.00001
|
NM_000170.3(GLDC):c.2839-7G>A
|
rs771936299
|
0.00001
|
NM_000170.3(GLDC):c.2925C>T (p.Phe975=)
|
rs1052505781
|
0.00001
|
NM_000170.3(GLDC):c.2994G>C (p.Leu998=)
|
rs759229432
|
0.00001
|
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn)
|
rs555776146
|
0.00001
|
NM_000170.3(GLDC):c.327C>T (p.Asp109=)
|
rs1181706015
|
0.00001
|
NM_000170.3(GLDC):c.357T>C (p.Thr119=)
|
rs777954190
|
0.00001
|
NM_000170.3(GLDC):c.372A>T (p.Ser124=)
|
rs1162730454
|
0.00001
|
NM_000170.3(GLDC):c.396G>A (p.Ser132=)
|
rs542613459
|
0.00001
|
NM_000170.3(GLDC):c.470+8A>G
|
rs1428962515
|
0.00001
|
NM_000170.3(GLDC):c.519G>A (p.Leu173=)
|
rs1384226436
|
0.00001
|
NM_000170.3(GLDC):c.51G>T (p.Gly17=)
|
rs947785805
|
0.00001
|
NM_000170.3(GLDC):c.588G>A (p.Leu196=)
|
rs1324658907
|
0.00001
|
NM_000170.3(GLDC):c.60C>T (p.Arg20=)
|
rs1162699082
|
0.00001
|
NM_000170.3(GLDC):c.635+18G>C
|
rs199569891
|
0.00001
|
NM_000170.3(GLDC):c.635+8G>C
|
rs760774268
|
0.00001
|
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg)
|
rs201049516
|
0.00001
|
NM_000170.3(GLDC):c.669C>T (p.Pro223=)
|
rs748556946
|
0.00001
|
NM_000170.3(GLDC):c.687A>G (p.Thr229=)
|
rs772572634
|
0.00001
|
NM_000170.3(GLDC):c.713+16C>T
|
rs749690567
|
0.00001
|
NM_000170.3(GLDC):c.714-13T>G
|
rs1453203047
|
0.00001
|
NM_000170.3(GLDC):c.729C>T (p.Leu243=)
|
rs1372919732
|
0.00001
|
NM_000170.3(GLDC):c.787T>C (p.Leu263=)
|
rs1322312349
|
0.00001
|
NM_000170.3(GLDC):c.816G>A (p.Lys272=)
|
rs771125415
|
0.00001
|
NM_000170.3(GLDC):c.831G>A (p.Thr277=)
|
rs369824891
|
0.00001
|
NM_000170.3(GLDC):c.837C>G (p.Leu279=)
|
rs755904706
|
0.00001
|
NM_000170.3(GLDC):c.861+20G>A
|
rs762609731
|
0.00001
|
NM_000170.3(GLDC):c.862-14C>T
|
rs1202842146
|
0.00001
|
NM_000170.3(GLDC):c.862-16C>G
|
rs780268150
|
0.00001
|
NM_000170.3(GLDC):c.862-4C>A
|
rs768905756
|
0.00001
|
NM_000170.3(GLDC):c.862-8C>T
|
rs1275195194
|
0.00001
|
NM_000170.3(GLDC):c.915T>C (p.Pro305=)
|
rs1478814212
|
0.00001
|
NM_000170.3(GLDC):c.940C>T (p.Leu314=)
|
rs1350558805
|
0.00001
|
NM_000170.3(GLDC):c.969A>G (p.Pro323=)
|
rs748143417
|
0.00001
|
NM_000170.3(GLDC):c.96G>T (p.Pro32=)
|
rs1430526811
|
0.00001
|
NM_000170.3(GLDC):c.972G>A (p.Leu324=)
|
rs754536865
|
0.00001
|
NM_000170.3(GLDC):c.990T>C (p.His330=)
|
rs1329493716
|
0.00001
|
NM_000182.5(HADHA):c.110-7T>C
|
rs551019555
|
0.00001
|
NM_000182.5(HADHA):c.1128C>T (p.Ile376=)
|
rs765101895
|
0.00001
|
NM_000182.5(HADHA):c.1140C>T (p.Ser380=)
|
rs199727889
|
0.00001
|
NM_000182.5(HADHA):c.1245A>G (p.Lys415=)
|
rs1669827760
|
0.00001
|
NM_000182.5(HADHA):c.1323C>T (p.Ala441=)
|
rs1288347890
|
0.00001
|
NM_000182.5(HADHA):c.1332G>A (p.Val444=)
|
rs1669824778
|
0.00001
|
NM_000182.5(HADHA):c.1389A>G (p.Glu463=)
|
rs772078762
|
0.00001
|
NM_000182.5(HADHA):c.1392+7A>G
|
rs757442432
|
0.00001
|
NM_000182.5(HADHA):c.1407C>T (p.His469=)
|
rs776013887
|
0.00001
|
NM_000182.5(HADHA):c.1434T>C (p.Ala478=)
|
rs780854216
|
0.00001
|
NM_000182.5(HADHA):c.1488C>A (p.Gly496=)
|
rs138750492
|
0.00001
|
NM_000182.5(HADHA):c.1524G>A (p.Leu508=)
|
rs748881184
|
0.00001
|
NM_000182.5(HADHA):c.1539G>A (p.Thr513=)
|
rs755287314
|
0.00001
|
NM_000182.5(HADHA):c.1599G>A (p.Gly533=)
|
rs773993179
|
0.00001
|
NM_000182.5(HADHA):c.1621-7T>C
|
rs774272303
|
0.00001
|
NM_000182.5(HADHA):c.1675A>G (p.Ile559Val)
|
rs780480297
|
0.00001
|
NM_000182.5(HADHA):c.1704G>A (p.Pro568=)
|
rs543883463
|
0.00001
|
NM_000182.5(HADHA):c.1755C>T (p.Ala585=)
|
rs921898736
|
0.00001
|
NM_000182.5(HADHA):c.1758A>C (p.Thr586=)
|
rs974621601
|
0.00001
|
NM_000182.5(HADHA):c.180+19A>G
|
rs367919663
|
0.00001
|
NM_000182.5(HADHA):c.1800G>A (p.Ala600=)
|
rs771364967
|
0.00001
|
NM_000182.5(HADHA):c.1854G>C (p.Leu618=)
|
rs201393639
|
0.00001
|
NM_000182.5(HADHA):c.1886-8T>C
|
rs749138340
|
0.00001
|
NM_000182.5(HADHA):c.189A>G (p.Thr63=)
|
rs748187062
|
0.00001
|
NM_000182.5(HADHA):c.2000+8C>T
|
rs750784743
|
0.00001
|
NM_000182.5(HADHA):c.2016C>T (p.Asp672=)
|
rs1669506916
|
0.00001
|
NM_000182.5(HADHA):c.201G>A (p.Glu67=)
|
rs1574626650
|
0.00001
|
NM_000182.5(HADHA):c.2022G>A (p.Gln674=)
|
rs1479427836
|
0.00001
|
NM_000182.5(HADHA):c.2112C>T (p.Ala704=)
|
rs754294789
|
0.00001
|
NM_000182.5(HADHA):c.2121G>C (p.Gly707=)
|
rs374503588
|
0.00001
|
NM_000182.5(HADHA):c.2146+9C>T
|
rs776491880
|
0.00001
|
NM_000182.5(HADHA):c.2147-19G>C
|
rs367910392
|
0.00001
|
NM_000182.5(HADHA):c.2148G>C (p.Gly716=)
|
rs1271662796
|
0.00001
|
NM_000182.5(HADHA):c.2156G>A (p.Arg719His)
|
rs751955844
|
0.00001
|
NM_000182.5(HADHA):c.2169G>T (p.Leu723=)
|
rs1352996721
|
0.00001
|
NM_000182.5(HADHA):c.2208T>C (p.Tyr736=)
|
rs774114061
|
0.00001
|
NM_000182.5(HADHA):c.264C>T (p.Ala88=)
|
rs755713464
|
0.00001
|
NM_000182.5(HADHA):c.27C>T (p.Ile9=)
|
rs1453533016
|
0.00001
|
NM_000182.5(HADHA):c.285A>T (p.Pro95=)
|
rs1483582925
|
0.00001
|
NM_000182.5(HADHA):c.324C>T (p.Ala108=)
|
rs559608103
|
0.00001
|
NM_000182.5(HADHA):c.363A>G (p.Gln121=)
|
rs199639645
|
0.00001
|
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser)
|
rs200549951
|
0.00001
|
NM_000182.5(HADHA):c.552C>A (p.Gly184=)
|
rs997810898
|
0.00001
|
NM_000182.5(HADHA):c.573+16C>T
|
rs372317291
|
0.00001
|
NM_000182.5(HADHA):c.573+9A>G
|
rs1419666935
|
0.00001
|
NM_000182.5(HADHA):c.676+10A>G
|
rs746940690
|
0.00001
|
NM_000182.5(HADHA):c.708A>G (p.Thr236=)
|
rs769619183
|
0.00001
|
NM_000182.5(HADHA):c.720A>C (p.Leu240=)
|
rs147042247
|
0.00001
|
NM_000182.5(HADHA):c.751C>T (p.Leu251=)
|
rs778945181
|
0.00001
|
NM_000182.5(HADHA):c.768C>T (p.Ile256=)
|
rs1245138981
|
0.00001
|
NM_000182.5(HADHA):c.800-15C>T
|
rs1057523518
|
0.00001
|
NM_000182.5(HADHA):c.924A>G (p.Val308=)
|
rs556893283
|
0.00001
|
NM_000182.5(HADHA):c.976-7T>G
|
rs1670058905
|
0.00001
|
NM_000182.5(HADHA):c.981T>C (p.Phe327=)
|
rs775800474
|
0.00001
|
NM_000187.4(HGD):c.1107C>A (p.Thr369=)
|
rs1165278353
|
0.00001
|
NM_000187.4(HGD):c.1110C>A (p.Pro370=)
|
rs760307527
|
0.00001
|
NM_000187.4(HGD):c.120T>C (p.Tyr40=)
|
rs369064890
|
0.00001
|
NM_000187.4(HGD):c.1335T>C (p.Asn445=)
|
rs187614203
|
0.00001
|
NM_000187.4(HGD):c.168T>C (p.Asn56=)
|
rs773277281
|
0.00001
|
NM_000187.4(HGD):c.27A>T (p.Gly9=)
|
rs780784207
|
0.00001
|
NM_000187.4(HGD):c.288A>G (p.Arg96=)
|
rs776344570
|
0.00001
|
NM_000187.4(HGD):c.307C>A (p.Pro103Thr)
|
rs559502955
|
0.00001
|
NM_000187.4(HGD):c.327A>G (p.Lys109=)
|
rs774514092
|
0.00001
|
NM_000187.4(HGD):c.343-5C>T
|
rs779590565
|
0.00001
|
NM_000187.4(HGD):c.390G>T (p.Gly130=)
|
rs774183442
|
0.00001
|
NM_000187.4(HGD):c.540C>T (p.Cys180=)
|
rs1447439273
|
0.00001
|
NM_000187.4(HGD):c.561G>A (p.Arg187=)
|
rs1436826620
|
0.00001
|
NM_000187.4(HGD):c.612T>C (p.Tyr204=)
|
rs765182260
|
0.00001
|
NM_000187.4(HGD):c.682T>C (p.Leu228=)
|
rs1282585373
|
0.00001
|
NM_000187.4(HGD):c.702T>C (p.Tyr234=)
|
rs771518151
|
0.00001
|
NM_000187.4(HGD):c.810G>A (p.Gly270=)
|
rs1940985320
|
0.00001
|
NM_000187.4(HGD):c.816T>C (p.Tyr272=)
|
rs1036188406
|
0.00001
|
NM_000187.4(HGD):c.834C>T (p.Asn278=)
|
rs1194280787
|
0.00001
|
NM_000187.4(HGD):c.879+9G>T
|
rs915477284
|
0.00001
|
NM_000187.4(HGD):c.880-5C>T
|
rs746239685
|
0.00001
|
NM_000187.4(HGD):c.912G>A (p.Lys304=)
|
rs1189623213
|
0.00001
|
NM_000187.4(HGD):c.915T>C (p.Ser305=)
|
rs144158342
|
0.00001
|
NM_000191.3(HMGCL):c.141A>G (p.Glu47=)
|
rs776280224
|
0.00001
|
NM_000191.3(HMGCL):c.145-4A>G
|
rs963436984
|
0.00001
|
NM_000191.3(HMGCL):c.159T>A (p.Thr53=)
|
rs1638634324
|
0.00001
|
NM_000191.3(HMGCL):c.252+17A>G
|
rs773700977
|
0.00001
|
NM_000191.3(HMGCL):c.27G>T (p.Pro9=)
|
rs1337954372
|
0.00001
|
NM_000191.3(HMGCL):c.30G>A (p.Arg10=)
|
rs1284448239
|
0.00001
|
NM_000191.3(HMGCL):c.339C>T (p.Phe113=)
|
rs112352538
|
0.00001
|
NM_000191.3(HMGCL):c.345A>C (p.Ala115=)
|
rs761706911
|
0.00001
|
NM_000191.3(HMGCL):c.348+7G>A
|
rs746088233
|
0.00001
|
NM_000191.3(HMGCL):c.349-10A>T
|
rs755304948
|
0.00001
|
NM_000191.3(HMGCL):c.390C>T (p.Ala130=)
|
rs141872588
|
0.00001
|
NM_000191.3(HMGCL):c.399C>T (p.Leu133=)
|
rs760474502
|
0.00001
|
NM_000191.3(HMGCL):c.441T>C (p.Phe147=)
|
rs777819749
|
0.00001
|
NM_000191.3(HMGCL):c.471G>A (p.Ala157=)
|
rs758118156
|
0.00001
|
NM_000191.3(HMGCL):c.477A>C (p.Ser159=)
|
rs1304272931
|
0.00001
|
NM_000191.3(HMGCL):c.498-14_498-13del
|
rs753940756
|
0.00001
|
NM_000191.3(HMGCL):c.498-7C>T
|
rs764007608
|
0.00001
|
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=)
|
rs200189529
|
0.00001
|
NM_000191.3(HMGCL):c.561+20C>T
|
rs781059597
|
0.00001
|
NM_000191.3(HMGCL):c.561+7G>A
|
rs773091131
|
0.00001
|
NM_000191.3(HMGCL):c.60+7G>A
|
rs368461149
|
0.00001
|
NM_000191.3(HMGCL):c.624G>A (p.Val208=)
|
rs747724373
|
0.00001
|
NM_000191.3(HMGCL):c.687C>T (p.Ala229=)
|
rs1638447338
|
0.00001
|
NM_000191.3(HMGCL):c.711C>T (p.Thr237=)
|
rs754976763
|
0.00001
|
NM_000191.3(HMGCL):c.735C>A (p.Thr245=)
|
rs202074025
|
0.00001
|
NM_000191.3(HMGCL):c.750+8A>G
|
rs771868826
|
0.00001
|
NM_000191.3(HMGCL):c.762T>C (p.Ser254=)
|
rs983682054
|
0.00001
|
NM_000191.3(HMGCL):c.816A>T (p.Ala272=)
|
rs141340718
|
0.00001
|
NM_000191.3(HMGCL):c.825C>T (p.Asn275=)
|
rs1287973337
|
0.00001
|
NM_000191.3(HMGCL):c.84T>C (p.Thr28=)
|
rs752969194
|
0.00001
|
NM_000191.3(HMGCL):c.858G>A (p.Glu286=)
|
rs376715568
|
0.00001
|
NM_000191.3(HMGCL):c.876+20G>A
|
rs749917434
|
0.00001
|
NM_000191.3(HMGCL):c.90A>G (p.Pro30=)
|
rs767787302
|
0.00001
|
NM_000191.3(HMGCL):c.921T>C (p.Cys307=)
|
rs777324642
|
0.00001
|
NM_000191.3(HMGCL):c.977G>A (p.Ter326=)
|
rs1303767209
|
0.00001
|
NM_000240.4(MAOA):c.1165-11C>T
|
rs948692153
|
0.00001
|
NM_000240.4(MAOA):c.1488C>G (p.Pro496=)
|
rs1569203097
|
0.00001
|
NM_000240.4(MAOA):c.1545G>T (p.Gly515=)
|
rs1223537199
|
0.00001
|
NM_000254.3(MTR):c.1071G>A (p.Leu357=)
|
rs771474135
|
0.00001
|
NM_000254.3(MTR):c.1076-16T>C
|
rs1363188046
|
0.00001
|
NM_000254.3(MTR):c.108G>A (p.Gly36=)
|
rs1057523951
|
0.00001
|
NM_000254.3(MTR):c.1311C>T (p.Ser437=)
|
rs777192214
|
0.00001
|
NM_000254.3(MTR):c.1329+15A>G
|
rs752303010
|
0.00001
|
NM_000254.3(MTR):c.1425G>A (p.Lys475=)
|
rs1464958347
|
0.00001
|
NM_000254.3(MTR):c.1566G>C (p.Leu522=)
|
rs779536088
|
0.00001
|
NM_000254.3(MTR):c.1695+15G>A
|
rs750838511
|
0.00001
|
NM_000254.3(MTR):c.1743C>T (p.Ser581=)
|
rs758784869
|
0.00001
|
NM_000254.3(MTR):c.181A>C (p.Arg61=)
|
rs886046217
|
0.00001
|
NM_000254.3(MTR):c.2446C>T (p.Leu816=)
|
rs1458770538
|
0.00001
|
NM_000254.3(MTR):c.2454T>C (p.Ala818=)
|
rs769066955
|
0.00001
|
NM_000254.3(MTR):c.2763T>C (p.Tyr921=)
|
rs989945025
|
0.00001
|
NM_000254.3(MTR):c.2775+19T>C
|
rs1416410897
|
0.00001
|
NM_000254.3(MTR):c.2776-16C>T
|
rs770223976
|
0.00001
|
NM_000254.3(MTR):c.3315T>C (p.Phe1105=)
|
rs1221565565
|
0.00001
|
NM_000254.3(MTR):c.34+10C>T
|
rs376679817
|
0.00001
|
NM_000254.3(MTR):c.34+13C>A
|
rs370004550
|
0.00001
|
NM_000254.3(MTR):c.3516C>T (p.Arg1172=)
|
rs750050502
|
0.00001
|
NM_000254.3(MTR):c.444G>A (p.Pro148=)
|
rs778868012
|
0.00001
|
NM_000254.3(MTR):c.669+11A>C
|
rs773271317
|
0.00001
|
NM_000274.4(OAT):c.1005A>G (p.Ala335=)
|
rs763750788
|
0.00001
|
NM_000274.4(OAT):c.1014+10G>C
|
rs185123140
|
0.00001
|
NM_000274.4(OAT):c.1137T>G (p.Ala379=)
|
rs1390940241
|
0.00001
|
NM_000274.4(OAT):c.1160-12A>G
|
rs892494276
|
0.00001
|
NM_000274.4(OAT):c.117C>G (p.Thr39=)
|
rs1171989360
|
0.00001
|
NM_000274.4(OAT):c.147G>A (p.Lys49=)
|
rs1234365587
|
0.00001
|
NM_000274.4(OAT):c.199+20G>A
|
rs746812237
|
0.00001
|
NM_000274.4(OAT):c.200-9G>A
|
rs1412655303
|
0.00001
|
NM_000274.4(OAT):c.225C>A (p.Gly75=)
|
rs768034800
|
0.00001
|
NM_000274.4(OAT):c.264C>T (p.Val88=)
|
rs1951678319
|
0.00001
|
NM_000274.4(OAT):c.322T>C (p.Leu108=)
|
rs756421829
|
0.00001
|
NM_000274.4(OAT):c.327C>G (p.Thr109=)
|
rs1409185490
|
0.00001
|
NM_000274.4(OAT):c.354C>T (p.Asn118=)
|
rs532722603
|
0.00001
|
NM_000274.4(OAT):c.429G>A (p.Val143=)
|
rs1041076477
|
0.00001
|
NM_000274.4(OAT):c.520+10A>C
|
rs747375268
|
0.00001
|
NM_000274.4(OAT):c.520+18T>G
|
rs778035963
|
0.00001
|
NM_000274.4(OAT):c.520+7G>A
|
rs369858071
|
0.00001
|
NM_000274.4(OAT):c.606G>A (p.Pro202=)
|
rs369806549
|
0.00001
|
NM_000274.4(OAT):c.615C>T (p.Asp205=)
|
rs144823472
|
0.00001
|
NM_000274.4(OAT):c.636G>T (p.Leu212=)
|
rs1951546849
|
0.00001
|
NM_000274.4(OAT):c.639C>T (p.Pro213=)
|
rs773314783
|
0.00001
|
NM_000274.4(OAT):c.648+12G>A
|
rs772528371
|
0.00001
|
NM_000274.4(OAT):c.675T>C (p.Ala225=)
|
rs1951496845
|
0.00001
|
NM_000274.4(OAT):c.720T>C (p.Val240=)
|
rs758197065
|
0.00001
|
NM_000274.4(OAT):c.78A>G (p.Thr26=)
|
rs1205048472
|
0.00001
|
NM_000274.4(OAT):c.90T>C (p.Thr30=)
|
rs1250394805
|
0.00001
|
NM_000274.4(OAT):c.939C>A (p.Thr313=)
|
rs1263275234
|
0.00001
|
NM_000274.4(OAT):c.951G>A (p.Gly317=)
|
rs1424302227
|
0.00001
|
NM_000274.4(OAT):c.957T>C (p.His319=)
|
rs1162641842
|
0.00001
|
NM_000276.4(OCRL):c.1104C>T (p.Thr368=)
|
rs1457897461
|
0.00001
|
NM_000276.4(OCRL):c.115T>C (p.Tyr39His)
|
rs756670728
|
0.00001
|
NM_000276.4(OCRL):c.1603-12A>G
|
rs1440624100
|
0.00001
|
NM_000276.4(OCRL):c.1656C>T (p.Arg552=)
|
rs761645724
|
0.00001
|
NM_000276.4(OCRL):c.1880-8C>T
|
rs750041502
|
0.00001
|
NM_000276.4(OCRL):c.1944G>A (p.Ser648=)
|
rs776881376
|
0.00001
|
NM_000276.4(OCRL):c.39+16A>C
|
rs1242261409
|
0.00001
|
NM_000276.4(OCRL):c.52A>G (p.Met18Val)
|
rs779021479
|
0.00001
|
NM_000276.4(OCRL):c.560+20A>G
|
rs767279122
|
0.00001
|
NM_000276.4(OCRL):c.768C>T (p.Ser256=)
|
rs1368090073
|
0.00001
|
NM_000277.3(PAH):c.1026A>G (p.Ala342=)
|
rs766756246
|
0.00001
|
NM_000277.3(PAH):c.1041C>T (p.Leu347=)
|
rs1233192488
|
0.00001
|
NM_000277.3(PAH):c.1059A>G (p.Glu353=)
|
rs1403823473
|
0.00001
|
NM_000277.3(PAH):c.1066-5T>C
|
rs910131541
|
0.00001
|
NM_000277.3(PAH):c.1095C>G (p.Leu365=)
|
rs747661840
|
0.00001
|
NM_000277.3(PAH):c.1185C>A (p.Ala395=)
|
rs760256025
|
0.00001
|
NM_000277.3(PAH):c.1188G>A (p.Lys396=)
|
rs772683682
|
0.00001
|
NM_000277.3(PAH):c.1251C>T (p.Tyr417=)
|
rs1272159852
|
0.00001
|
NM_000277.3(PAH):c.1254C>T (p.Thr418=)
|
rs755787172
|
0.00001
|
NM_000277.3(PAH):c.1270T>C (p.Leu424=)
|
rs148041893
|
0.00001
|
NM_000277.3(PAH):c.1299G>A (p.Leu433=)
|
rs770034263
|
0.00001
|
NM_000277.3(PAH):c.135T>G (p.Val45=)
|
rs773425620
|
0.00001
|
NM_000277.3(PAH):c.169-9C>G
|
rs747810402
|
0.00001
|
NM_000277.3(PAH):c.198A>G (p.Glu66=)
|
rs117308669
|
0.00001
|
NM_000277.3(PAH):c.231T>C (p.Tyr77=)
|
rs62507332
|
0.00001
|
NM_000277.3(PAH):c.352+10A>G
|
rs559561517
|
0.00001
|
NM_000277.3(PAH):c.353-9G>T
|
rs757191681
|
0.00001
|
NM_000277.3(PAH):c.424C>T (p.Leu142=)
|
rs375364629
|
0.00001
|
NM_000277.3(PAH):c.42A>G (p.Lys14=)
|
rs759956741
|
0.00001
|
NM_000277.3(PAH):c.450A>G (p.Lys150=)
|
rs749317892
|
0.00001
|
NM_000277.3(PAH):c.509+18G>T
|
rs749428436
|
0.00001
|
NM_000277.3(PAH):c.509+9G>A
|
rs1392904247
|
0.00001
|
NM_000277.3(PAH):c.513G>T (p.Gly171=)
|
rs143211522
|
0.00001
|
NM_000277.3(PAH):c.60+10G>C
|
rs1878409841
|
0.00001
|
NM_000277.3(PAH):c.61-7C>T
|
rs1246404276
|
0.00001
|
NM_000277.3(PAH):c.633A>C (p.Pro211=)
|
rs1347265181
|
0.00001
|
NM_000277.3(PAH):c.687C>T (p.Asp229=)
|
rs966010608
|
0.00001
|
NM_000277.3(PAH):c.693T>C (p.Ser231=)
|
rs1592954345
|
0.00001
|
NM_000277.3(PAH):c.702G>A (p.Leu234=)
|
rs993558609
|
0.00001
|
NM_000277.3(PAH):c.771C>T (p.Gly257=)
|
rs544995045
|
0.00001
|
NM_000277.3(PAH):c.786C>T (p.Val262=)
|
rs776860902
|
0.00001
|
NM_000277.3(PAH):c.825C>T (p.Pro275=)
|
rs1875223145
|
0.00001
|
NM_000277.3(PAH):c.842+8C>T
|
rs747113268
|
0.00001
|
NM_000277.3(PAH):c.936T>C (p.Gly312=)
|
rs776778122
|
0.00001
|
NM_000277.3(PAH):c.969+12C>T
|
rs1874869257
|
0.00001
|
NM_000281.4(PCBD1):c.204C>T (p.Asn68=)
|
rs778214598
|
0.00001
|
NM_000281.4(PCBD1):c.240T>C (p.His80=)
|
rs749751658
|
0.00001
|
NM_000281.4(PCBD1):c.249C>T (p.Ala83=)
|
rs148217100
|
0.00001
|
NM_000281.4(PCBD1):c.264G>C (p.Arg88=)
|
rs1411706949
|
0.00001
|
NM_000281.4(PCBD1):c.294A>G (p.Gln98=)
|
rs773744136
|
0.00001
|
NM_000282.4(PCCA):c.105+16G>A
|
rs2046038909
|
0.00001
|
NM_000282.4(PCCA):c.106-10T>C
|
rs770940740
|
0.00001
|
NM_000282.4(PCCA):c.1065+10A>G
|
rs1428223017
|
0.00001
|
NM_000282.4(PCCA):c.1065+12T>A
|
rs1013549378
|
0.00001
|
NM_000282.4(PCCA):c.1065+15T>C
|
rs762540382
|
0.00001
|
NM_000282.4(PCCA):c.1066-13C>T
|
rs372186963
|
0.00001
|
NM_000282.4(PCCA):c.1071G>A (p.Glu357=)
|
rs761295534
|
0.00001
|
NM_000282.4(PCCA):c.1089C>T (p.Cys363=)
|
rs766934571
|
0.00001
|
NM_000282.4(PCCA):c.1269G>A (p.Pro423=)
|
rs778642206
|
0.00001
|
NM_000282.4(PCCA):c.1284+17T>G
|
rs531058073
|
0.00001
|
NM_000282.4(PCCA):c.1285-10T>C
|
rs1186262441
|
0.00001
|
NM_000282.4(PCCA):c.1285-15C>T
|
rs779554504
|
0.00001
|
NM_000282.4(PCCA):c.1285-20T>C
|
rs1227568974
|
0.00001
|
NM_000282.4(PCCA):c.1285-5C>T
|
rs773331326
|
0.00001
|
NM_000282.4(PCCA):c.12C>T (p.Phe4=)
|
rs759257021
|
0.00001
|
NM_000282.4(PCCA):c.1326C>T (p.Ser442=)
|
rs934310912
|
0.00001
|
NM_000282.4(PCCA):c.1353+16C>T
|
rs573543059
|
0.00001
|
NM_000282.4(PCCA):c.1353+18A>G
|
rs369105635
|
0.00001
|
NM_000282.4(PCCA):c.1354-10T>C
|
rs750041912
|
0.00001
|
NM_000282.4(PCCA):c.1437A>G (p.Thr479=)
|
rs1224037636
|
0.00001
|
NM_000282.4(PCCA):c.1518T>C (p.Asp506=)
|
rs1214787896
|
0.00001
|
NM_000282.4(PCCA):c.1540+15A>C
|
rs372830595
|
0.00001
|
NM_000282.4(PCCA):c.1541-15A>G
|
rs748759552
|
0.00001
|
NM_000282.4(PCCA):c.1659A>G (p.Lys553=)
|
rs764395477
|
0.00001
|
NM_000282.4(PCCA):c.1764G>A (p.Ser588=)
|
rs772158996
|
0.00001
|
NM_000282.4(PCCA):c.1785G>A (p.Thr595=)
|
rs766312551
|
0.00001
|
NM_000282.4(PCCA):c.1800G>A (p.Ser600=)
|
rs761681712
|
0.00001
|
NM_000282.4(PCCA):c.180A>G (p.Glu60=)
|
rs1003935202
|
0.00001
|
NM_000282.4(PCCA):c.1818C>T (p.Ser606=)
|
rs763647197
|
0.00001
|
NM_000282.4(PCCA):c.1824T>C (p.Asp608=)
|
rs1008553303
|
0.00001
|
NM_000282.4(PCCA):c.184-5T>C
|
rs780230606
|
0.00001
|
NM_000282.4(PCCA):c.1899+7A>G
|
rs950344042
|
0.00001
|
NM_000282.4(PCCA):c.1995G>A (p.Pro665=)
|
rs1357780167
|
0.00001
|
NM_000282.4(PCCA):c.2001C>T (p.Pro667=)
|
rs778845861
|
0.00001
|
NM_000282.4(PCCA):c.2010G>A (p.Val670=)
|
rs1343608733
|
0.00001
|
NM_000282.4(PCCA):c.2118+10T>C
|
rs1318351775
|
0.00001
|
NM_000282.4(PCCA):c.2119-5T>G
|
rs752895575
|
0.00001
|
NM_000282.4(PCCA):c.2136T>C (p.Cys712=)
|
rs781085655
|
0.00001
|
NM_000282.4(PCCA):c.231+8G>A
|
rs199996461
|
0.00001
|
NM_000282.4(PCCA):c.30G>T (p.Pro10=)
|
rs1206173421
|
0.00001
|
NM_000282.4(PCCA):c.405G>A (p.Arg135=)
|
rs996873957
|
0.00001
|
NM_000282.4(PCCA):c.414+7C>G
|
rs1051098122
|
0.00001
|
NM_000282.4(PCCA):c.432A>G (p.Gly144=)
|
rs768756825
|
0.00001
|
NM_000282.4(PCCA):c.453A>G (p.Glu151=)
|
rs897110640
|
0.00001
|
NM_000282.4(PCCA):c.54G>A (p.Gly18=)
|
rs1373903905
|
0.00001
|
NM_000282.4(PCCA):c.570T>C (p.Asn190=)
|
rs747026505
|
0.00001
|
NM_000282.4(PCCA):c.601-13C>T
|
rs1367838556
|
0.00001
|
NM_000282.4(PCCA):c.637+18C>A
|
rs758676556
|
0.00001
|
NM_000282.4(PCCA):c.717-8T>C
|
rs1367148068
|
0.00001
|
NM_000282.4(PCCA):c.762C>T (p.Gly254=)
|
rs758211858
|
0.00001
|
NM_000282.4(PCCA):c.819+19C>G
|
rs1566819775
|
0.00001
|
NM_000282.4(PCCA):c.819+20T>C
|
rs759539188
|
0.00001
|
NM_000282.4(PCCA):c.849A>G (p.Leu283=)
|
rs1357373616
|
0.00001
|
NM_000282.4(PCCA):c.858T>C (p.Asn286=)
|
rs778427348
|
0.00001
|
NM_000282.4(PCCA):c.864A>G (p.Arg288=)
|
rs771222501
|
0.00001
|
NM_000282.4(PCCA):c.987T>C (p.Tyr329=)
|
rs778986379
|
0.00001
|
NM_000317.3(PTS):c.163+7G>A
|
rs1384844563
|
0.00001
|
NM_000317.3(PTS):c.237T>C (p.Tyr79=)
|
rs766251710
|
0.00001
|
NM_000317.3(PTS):c.279G>C (p.Leu93=)
|
rs1157712069
|
0.00001
|
NM_000317.3(PTS):c.45C>T (p.Ser15=)
|
rs756084052
|
0.00001
|
NM_000317.3(PTS):c.66G>A (p.Ala22=)
|
rs1859866331
|
0.00001
|
NM_000320.3(QDPR):c.147C>T (p.Ser49=)
|
rs758659025
|
0.00001
|
NM_000320.3(QDPR):c.186G>A (p.Glu62=)
|
rs771557010
|
0.00001
|
NM_000320.3(QDPR):c.296-18C>T
|
rs770021666
|
0.00001
|
NM_000320.3(QDPR):c.296-7C>T
|
rs376187471
|
0.00001
|
NM_000320.3(QDPR):c.318G>A (p.Leu106=)
|
rs766832692
|
0.00001
|
NM_000320.3(QDPR):c.34C>A (p.Arg12=)
|
rs1372264673
|
0.00001
|
NM_000320.3(QDPR):c.400T>C (p.Leu134=)
|
rs775048498
|
0.00001
|
NM_000320.3(QDPR):c.423G>A (p.Leu141=)
|
rs1553875093
|
0.00001
|
NM_000320.3(QDPR):c.444C>T (p.Ile148=)
|
rs754982401
|
0.00001
|
NM_000320.3(QDPR):c.507C>T (p.Ser169=)
|
rs774932503
|
0.00001
|
NM_000320.3(QDPR):c.545+14G>T
|
rs775046749
|
0.00001
|
NM_000320.3(QDPR):c.546-9C>A
|
rs764033550
|
0.00001
|
NM_000329.3(RPE65):c.105C>T (p.Pro35=)
|
rs996390276
|
0.00001
|
NM_000329.3(RPE65):c.1083C>A (p.Pro361=)
|
rs756209191
|
0.00001
|
NM_000329.3(RPE65):c.1092A>G (p.Glu364=)
|
rs751860030
|
0.00001
|
NM_000329.3(RPE65):c.1221T>C (p.Val407=)
|
rs771095890
|
0.00001
|
NM_000329.3(RPE65):c.1233G>A (p.Gly411=)
|
rs373834001
|
0.00001
|
NM_000329.3(RPE65):c.1243+18A>G
|
rs749922257
|
0.00001
|
NM_000329.3(RPE65):c.1244-6T>C
|
rs1290347377
|
0.00001
|
NM_000329.3(RPE65):c.126C>T (p.Leu42=)
|
rs148973921
|
0.00001
|
NM_000329.3(RPE65):c.1299T>C (p.Tyr433=)
|
rs763437650
|
0.00001
|
NM_000329.3(RPE65):c.1371T>C (p.Thr457=)
|
rs372273815
|
0.00001
|
NM_000329.3(RPE65):c.1398C>T (p.Tyr466=)
|
rs764189309
|
0.00001
|
NM_000329.3(RPE65):c.1407A>G (p.Glu469=)
|
rs762977154
|
0.00001
|
NM_000329.3(RPE65):c.1451-7T>C
|
rs773933584
|
0.00001
|
NM_000329.3(RPE65):c.1459C>T (p.Leu487=)
|
rs1404827828
|
0.00001
|
NM_000329.3(RPE65):c.1485A>C (p.Ala495=)
|
rs753956649
|
0.00001
|
NM_000329.3(RPE65):c.1581T>C (p.His527=)
|
rs768915904
|
0.00001
|
NM_000329.3(RPE65):c.264T>C (p.Ala88=)
|
rs771159132
|
0.00001
|
NM_000329.3(RPE65):c.267C>T (p.Tyr89=)
|
rs372620785
|
0.00001
|
NM_000329.3(RPE65):c.327A>G (p.Pro109=)
|
rs1356737522
|
0.00001
|
NM_000329.3(RPE65):c.354-7T>C
|
rs776756253
|
0.00001
|
NM_000329.3(RPE65):c.375A>G (p.Gly125=)
|
rs992113946
|
0.00001
|
NM_000329.3(RPE65):c.450C>T (p.Asn150=)
|
rs370004418
|
0.00001
|
NM_000329.3(RPE65):c.45G>T (p.Leu15=)
|
rs1292301823
|
0.00001
|
NM_000329.3(RPE65):c.495+10A>G
|
rs1186657454
|
0.00001
|
NM_000329.3(RPE65):c.496-10A>C
|
rs372059562
|
0.00001
|
NM_000329.3(RPE65):c.496-14C>T
|
rs763256793
|
0.00001
|
NM_000329.3(RPE65):c.576T>A (p.Ile192=)
|
rs747122876
|
0.00001
|
NM_000329.3(RPE65):c.624G>A (p.Lys208=)
|
rs1170839612
|
0.00001
|
NM_000329.3(RPE65):c.634C>T (p.Leu212=)
|
rs1020549411
|
0.00001
|
NM_000329.3(RPE65):c.63A>G (p.Glu21=)
|
rs1043155791
|
0.00001
|
NM_000329.3(RPE65):c.643+10C>A
|
rs758825902
|
0.00001
|
NM_000329.3(RPE65):c.643+19C>T
|
rs371106770
|
0.00001
|
NM_000329.3(RPE65):c.717C>T (p.Tyr239=)
|
rs1366781286
|
0.00001
|
NM_000329.3(RPE65):c.726-19C>A
|
rs1219424509
|
0.00001
|
NM_000329.3(RPE65):c.726-9T>C
|
rs751054481
|
0.00001
|
NM_000329.3(RPE65):c.750C>T (p.Ile250=)
|
rs759403626
|
0.00001
|
NM_000329.3(RPE65):c.774A>G (p.Lys258=)
|
rs1264648487
|
0.00001
|
NM_000329.3(RPE65):c.777T>C (p.Ile259=)
|
rs762186209
|
0.00001
|
NM_000329.3(RPE65):c.783G>T (p.Leu261=)
|
rs188493184
|
0.00001
|
NM_000329.3(RPE65):c.798T>C (p.Ser266=)
|
rs1645882700
|
0.00001
|
NM_000329.3(RPE65):c.822C>T (p.Asn274=)
|
rs777207027
|
0.00001
|
NM_000329.3(RPE65):c.886A>C (p.Arg296=)
|
rs1399365841
|
0.00001
|
NM_000329.3(RPE65):c.888G>A (p.Arg296=)
|
rs778422718
|
0.00001
|
NM_000329.3(RPE65):c.894G>A (p.Lys298=)
|
rs768068723
|
0.00001
|
NM_000329.3(RPE65):c.957A>G (p.Glu319=)
|
rs753954638
|
0.00001
|
NM_000329.3(RPE65):c.987C>T (p.Cys329=)
|
rs1250396948
|
0.00001
|
NM_000341.4(SLC3A1):c.1119G>A (p.Thr373=)
|
rs772223467
|
0.00001
|
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=)
|
rs557669708
|
0.00001
|
NM_000341.4(SLC3A1):c.1326C>T (p.Asn442=)
|
rs368554884
|
0.00001
|
NM_000341.4(SLC3A1):c.264C>T (p.Ile88=)
|
rs770970062
|
0.00001
|
NM_000341.4(SLC3A1):c.276C>T (p.Leu92=)
|
rs1671329757
|
0.00001
|
NM_000341.4(SLC3A1):c.892-9C>T
|
rs1335328608
|
0.00001
|
NM_000353.3(TAT):c.1041+10G>A
|
rs757195169
|
0.00001
|
NM_000353.3(TAT):c.1042-12C>T
|
rs748571289
|
0.00001
|
NM_000353.3(TAT):c.1050T>C (p.Ala350=)
|
rs1323649409
|
0.00001
|
NM_000353.3(TAT):c.1125+10T>C
|
rs746015147
|
0.00001
|
NM_000353.3(TAT):c.1126-14T>C
|
rs776899240
|
0.00001
|
NM_000353.3(TAT):c.1146T>C (p.His382=)
|
rs141534499
|
0.00001
|
NM_000353.3(TAT):c.1179G>A (p.Thr393=)
|
rs760896128
|
0.00001
|
NM_000353.3(TAT):c.117C>G (p.Ala39=)
|
rs1451272406
|
0.00001
|
NM_000353.3(TAT):c.1225-5T>C
|
rs760804060
|
0.00001
|
NM_000353.3(TAT):c.1236C>T (p.Tyr412=)
|
rs1441677896
|
0.00001
|
NM_000353.3(TAT):c.1269C>T (p.Pro423=)
|
rs779346474
|
0.00001
|
NM_000353.3(TAT):c.1290G>A (p.Ala430=)
|
rs767563000
|
0.00001
|
NM_000353.3(TAT):c.12C>T (p.Tyr4=)
|
rs773782377
|
0.00001
|
NM_000353.3(TAT):c.207A>G (p.Pro69=)
|
rs1383405389
|
0.00001
|
NM_000353.3(TAT):c.236-8A>G
|
rs1331039178
|
0.00001
|
NM_000353.3(TAT):c.341-7C>G
|
rs1291363507
|
0.00001
|
NM_000353.3(TAT):c.348A>C (p.Leu116=)
|
rs1020645107
|
0.00001
|
NM_000353.3(TAT):c.351C>T (p.Ser117=)
|
rs977686877
|
0.00001
|
NM_000353.3(TAT):c.408+7C>G
|
rs1489466141
|
0.00001
|
NM_000353.3(TAT):c.438A>G (p.Gln146=)
|
rs550620178
|
0.00001
|
NM_000353.3(TAT):c.568-9T>C
|
rs958672860
|
0.00001
|
NM_000353.3(TAT):c.570A>G (p.Pro190=)
|
rs147832751
|
0.00001
|
NM_000353.3(TAT):c.760-8C>G
|
rs368379963
|
0.00001
|
NM_000353.3(TAT):c.840G>A (p.Lys280=)
|
rs747797659
|
0.00001
|
NM_000353.3(TAT):c.870C>G (p.Gly290=)
|
rs746209091
|
0.00001
|
NM_000353.3(TAT):c.885T>C (p.His295=)
|
rs764232948
|
0.00001
|
NM_000353.3(TAT):c.933G>A (p.Lys311=)
|
rs774056969
|
0.00001
|
NM_000360.4(TH):c.1047+7C>T
|
rs771406751
|
0.00001
|
NM_000360.4(TH):c.1048-7T>C
|
rs1846081680
|
0.00001
|
NM_000360.4(TH):c.1062G>A (p.Ala354=)
|
rs775488051
|
0.00001
|
NM_000360.4(TH):c.1077G>A (p.Ser359=)
|
rs759797905
|
0.00001
|
NM_000360.4(TH):c.1104+11C>A
|
rs1368988481
|
0.00001
|
NM_000360.4(TH):c.1128C>T (p.Phe376=)
|
rs769329337
|
0.00001
|
NM_000360.4(TH):c.1146C>T (p.Asn382=)
|
rs202090361
|
0.00001
|
NM_000360.4(TH):c.1149G>A (p.Gly383=)
|
rs758398302
|
0.00001
|
NM_000360.4(TH):c.1191G>A (p.Gly397=)
|
rs545937773
|
0.00001
|
NM_000360.4(TH):c.1197C>T (p.Leu399=)
|
rs762263415
|
0.00001
|
NM_000360.4(TH):c.1200+7G>A
|
rs1463979447
|
0.00001
|
NM_000360.4(TH):c.1201-16A>G
|
rs201228560
|
0.00001
|
NM_000360.4(TH):c.1209G>A (p.Leu403=)
|
rs1255096793
|
0.00001
|
NM_000360.4(TH):c.1233C>T (p.Ala411=)
|
rs768695630
|
0.00001
|
NM_000360.4(TH):c.1251G>A (p.Ala417=)
|
rs774769978
|
0.00001
|
NM_000360.4(TH):c.1257G>A (p.Val419=)
|
rs1299170832
|
0.00001
|
NM_000360.4(TH):c.1290C>T (p.Val430=)
|
rs367962981
|
0.00001
|
NM_000360.4(TH):c.1332C>T (p.Leu444=)
|
rs534572182
|
0.00001
|
NM_000360.4(TH):c.1334+9G>A
|
rs758713265
|
0.00001
|
NM_000360.4(TH):c.1335-14G>A
|
rs754310603
|
0.00001
|
NM_000360.4(TH):c.1464C>A (p.Thr488=)
|
rs1245346478
|
0.00001
|
NM_000360.4(TH):c.150G>A (p.Glu50=)
|
rs763790386
|
0.00001
|
NM_000360.4(TH):c.15C>T (p.Asp5=)
|
rs562609508
|
0.00001
|
NM_000360.4(TH):c.168G>A (p.Ala56=)
|
rs776640286
|
0.00001
|
NM_000360.4(TH):c.195G>A (p.Gly65=)
|
rs145628270
|
0.00001
|
NM_000360.4(TH):c.204G>A (p.Leu68=)
|
rs1378296581
|
0.00001
|
NM_000360.4(TH):c.285G>A (p.Ala95=)
|
rs749856378
|
0.00001
|
NM_000360.4(TH):c.303G>A (p.Lys101=)
|
rs752339418
|
0.00001
|
NM_000360.4(TH):c.30G>A (p.Gln10=)
|
rs980737617
|
0.00001
|
NM_000360.4(TH):c.315G>A (p.Thr105=)
|
rs778507389
|
0.00001
|
NM_000360.4(TH):c.378C>T (p.Pro126=)
|
rs779782825
|
0.00001
|
NM_000360.4(TH):c.393C>T (p.Phe131=)
|
rs1239693053
|
0.00001
|
NM_000360.4(TH):c.402C>T (p.Leu134=)
|
rs759914498
|
0.00001
|
NM_000360.4(TH):c.447C>A (p.Arg149=)
|
rs1288293766
|
0.00001
|
NM_000360.4(TH):c.462C>T (p.Asp154=)
|
rs76831425
|
0.00001
|
NM_000360.4(TH):c.474C>T (p.Pro158=)
|
rs531554933
|
0.00001
|
NM_000360.4(TH):c.477G>A (p.Ala159=)
|
rs1217513263
|
0.00001
|
NM_000360.4(TH):c.487+14C>G
|
rs1298714018
|
0.00001
|
NM_000360.4(TH):c.558C>T (p.Asp186=)
|
rs781341540
|
0.00001
|
NM_000360.4(TH):c.576+10G>A
|
rs775488025
|
0.00001
|
NM_000360.4(TH):c.582C>A (p.Phe194Leu)
|
rs555133070
|
0.00001
|
NM_000360.4(TH):c.5C>T (p.Pro2Leu)
|
rs139474171
|
0.00001
|
NM_000360.4(TH):c.636G>A (p.Gln212=)
|
rs752607225
|
0.00001
|
NM_000360.4(TH):c.644+10C>T
|
rs760886341
|
0.00001
|
NM_000360.4(TH):c.644+20G>A
|
rs745379902
|
0.00001
|
NM_000360.4(TH):c.644+8G>A
|
rs776723483
|
0.00001
|
NM_000360.4(TH):c.644+8G>C
|
rs776723483
|
0.00001
|
NM_000360.4(TH):c.645-18C>T
|
rs762094071
|
0.00001
|
NM_000360.4(TH):c.648C>T (p.Gly216=)
|
rs774810612
|
0.00001
|
NM_000360.4(TH):c.675C>T (p.Thr225=)
|
rs1437906953
|
0.00001
|
NM_000360.4(TH):c.695+11C>T
|
rs993765578
|
0.00001
|
NM_000360.4(TH):c.696-5C>T
|
rs755960694
|
0.00001
|
NM_000360.4(TH):c.723C>A (p.Gly241=)
|
rs752953358
|
0.00001
|
NM_000360.4(TH):c.738C>T (p.His246=)
|
rs761504134
|
0.00001
|
NM_000360.4(TH):c.769T>C (p.Leu257=)
|
rs138787428
|
0.00001
|
NM_000360.4(TH):c.786C>T (p.Ser262=)
|
rs753109309
|
0.00001
|
NM_000360.4(TH):c.828C>G (p.Ser276=)
|
rs747123916
|
0.00001
|
NM_000360.4(TH):c.841+12C>T
|
rs368489295
|
0.00001
|
NM_000360.4(TH):c.841+15G>C
|
rs1289211521
|
0.00001
|
NM_000360.4(TH):c.842-6T>C
|
rs1363004689
|
0.00001
|
NM_000360.4(TH):c.849G>A (p.Thr283=)
|
rs892319076
|
0.00001
|
NM_000360.4(TH):c.873C>T (p.Ala291=)
|
rs1176834491
|
0.00001
|
NM_000360.4(TH):c.885C>T (p.Ser295=)
|
rs772023928
|
0.00001
|
NM_000360.4(TH):c.894C>T (p.Asp298=)
|
rs1003880422
|
0.00001
|
NM_000360.4(TH):c.90+22C>G
|
rs753296112
|
0.00001
|
NM_000360.4(TH):c.90+27G>A
|
rs1343146453
|
0.00001
|
NM_000360.4(TH):c.91-17G>A
|
rs1198598913
|
0.00001
|
NM_000360.4(TH):c.91-800T>C
|
rs1234803833
|
0.00001
|
NM_000360.4(TH):c.91-821A>C
|
rs1338821407
|
0.00001
|
NM_000360.4(TH):c.954C>T (p.Ser318=)
|
rs1462093961
|
0.00001
|
NM_000360.4(TH):c.96G>A (p.Pro32=)
|
rs202167640
|
0.00001
|
NM_000360.4(TH):c.977+9G>C
|
rs752199740
|
0.00001
|
NM_000360.4(TH):c.978-6G>T
|
rs75487597
|
0.00001
|
NM_000360.4(TH):c.981C>T (p.Asp327=)
|
rs947297093
|
0.00001
|
NM_000360.4(TH):c.990C>T (p.His330=)
|
rs760420202
|
0.00001
|
NM_000360.4(TH):c.996G>A (p.Leu332=)
|
rs750185526
|
0.00001
|
NM_000360.4(TH):c.996G>T (p.Leu332=)
|
rs750185526
|
0.00001
|
NM_000387.6(SLC25A20):c.105+14G>A
|
rs755691674
|
0.00001
|
NM_000387.6(SLC25A20):c.327-13G>C
|
rs781297561
|
0.00001
|
NM_000387.6(SLC25A20):c.570T>C (p.Tyr190=)
|
rs144972397
|
0.00001
|
NM_000387.6(SLC25A20):c.597G>A (p.Pro199=)
|
rs142911267
|
0.00001
|
NM_000387.6(SLC25A20):c.844-6T>C
|
rs760652203
|
0.00001
|
NM_000481.4(AMT):c.1029G>A (p.Lys343=)
|
rs1553638253
|
0.00001
|
NM_000481.4(AMT):c.1034-14T>C
|
rs772896226
|
0.00001
|
NM_000481.4(AMT):c.1038T>C (p.Thr346=)
|
rs532787574
|
0.00001
|
NM_000481.4(AMT):c.1083G>A (p.Ala361=)
|
rs753899057
|
0.00001
|
NM_000481.4(AMT):c.1092T>C (p.Tyr364=)
|
rs764246902
|
0.00001
|
NM_000481.4(AMT):c.1095G>A (p.Val365=)
|
rs1367905315
|
0.00001
|
NM_000481.4(AMT):c.1101C>T (p.Cys367=)
|
rs753150990
|
0.00001
|
NM_000481.4(AMT):c.111G>A (p.Pro37=)
|
rs754165977
|
0.00001
|
NM_000481.4(AMT):c.1140G>C (p.Val380=)
|
rs746645414
|
0.00001
|
NM_000481.4(AMT):c.123C>T (p.Phe41=)
|
rs774066970
|
0.00001
|
NM_000481.4(AMT):c.126C>T (p.His42=)
|
rs761195733
|
0.00001
|
NM_000481.4(AMT):c.135C>T (p.His45=)
|
rs773881893
|
0.00001
|
NM_000481.4(AMT):c.141G>A (p.Gly47=)
|
rs1286962248
|
0.00001
|
NM_000481.4(AMT):c.153G>A (p.Ala51=)
|
rs768510463
|
0.00001
|
NM_000481.4(AMT):c.183C>T (p.Tyr61=)
|
rs2049116527
|
0.00001
|
NM_000481.4(AMT):c.198T>C (p.Thr66=)
|
rs151231828
|
0.00001
|
NM_000481.4(AMT):c.204G>A (p.Ser68=)
|
rs544165488
|
0.00001
|
NM_000481.4(AMT):c.340-19C>T
|
rs529076810
|
0.00001
|
NM_000481.4(AMT):c.399C>T (p.Thr133=)
|
rs1638775910
|
0.00001
|
NM_000481.4(AMT):c.435C>T (p.Asn145=)
|
rs1318110345
|
0.00001
|
NM_000481.4(AMT):c.441C>G (p.Gly147=)
|
rs2049076356
|
0.00001
|
NM_000481.4(AMT):c.459G>A (p.Leu153=)
|
rs1054393564
|
0.00001
|
NM_000481.4(AMT):c.462C>T (p.Ala154=)
|
rs1192215555
|
0.00001
|
NM_000481.4(AMT):c.471+7C>G
|
rs776638071
|
0.00001
|
NM_000481.4(AMT):c.471+7C>T
|
rs776638071
|
0.00001
|
NM_000481.4(AMT):c.471+9C>T
|
rs760770619
|
0.00001
|
NM_000481.4(AMT):c.516G>A (p.Leu172=)
|
rs1281064499
|
0.00001
|
NM_000481.4(AMT):c.519G>A (p.Glu173=)
|
rs376777888
|
0.00001
|
NM_000481.4(AMT):c.546G>A (p.Leu182=)
|
rs1231853585
|
0.00001
|
NM_000481.4(AMT):c.54C>T (p.Phe18=)
|
rs914716059
|
0.00001
|
NM_000481.4(AMT):c.551-20C>T
|
rs770272854
|
0.00001
|
NM_000481.4(AMT):c.551-8G>C
|
rs1198266542
|
0.00001
|
NM_000481.4(AMT):c.576G>A (p.Gln192=)
|
rs1318971313
|
0.00001
|
NM_000481.4(AMT):c.579C>T (p.Ala193=)
|
rs749313171
|
0.00001
|
NM_000481.4(AMT):c.60G>A (p.Pro20=)
|
rs374750709
|
0.00001
|
NM_000481.4(AMT):c.618C>T (p.Thr206=)
|
rs1361089893
|
0.00001
|
NM_000481.4(AMT):c.684G>A (p.Glu228=)
|
rs2049057695
|
0.00001
|
NM_000481.4(AMT):c.696+10G>T
|
rs750787542
|
0.00001
|
NM_000481.4(AMT):c.697-11G>A
|
rs751099729
|
0.00001
|
NM_000481.4(AMT):c.697-35G>C
|
rs746080712
|
0.00001
|
NM_000481.4(AMT):c.702G>A (p.Ser234=)
|
rs761701860
|
0.00001
|
NM_000481.4(AMT):c.750C>T (p.Asn250=)
|
rs141324034
|
0.00001
|
NM_000481.4(AMT):c.798G>A (p.Leu266=)
|
rs749832818
|
0.00001
|
NM_000481.4(AMT):c.807C>A (p.Gly269=)
|
rs200176736
|
0.00001
|
NM_000481.4(AMT):c.84C>T (p.Cys28=)
|
rs763223038
|
0.00001
|
NM_000481.4(AMT):c.852G>A (p.Val284=)
|
rs749481166
|
0.00001
|
NM_000481.4(AMT):c.877+10G>A
|
rs1292050339
|
0.00001
|
NM_000481.4(AMT):c.878-16_878-15del
|
rs759562642
|
0.00001
|
NM_000481.4(AMT):c.878-5T>G
|
rs945551152
|
0.00001
|
NM_000481.4(AMT):c.879G>C (p.Gly293=)
|
rs972670254
|
0.00001
|
NM_000481.4(AMT):c.891A>G (p.Arg297=)
|
rs763216113
|
0.00001
|
NM_000481.4(AMT):c.897T>C (p.Ala299=)
|
rs371771461
|
0.00001
|
NM_000481.4(AMT):c.939G>A (p.Lys313=)
|
rs1382062787
|
0.00001
|
NM_000531.6(OTC):c.105G>A (p.Val35=)
|
rs757207910
|
0.00001
|
NM_000531.6(OTC):c.171A>G (p.Leu57=)
|
rs924740805
|
0.00001
|
NM_000531.6(OTC):c.217-13C>G
|
rs1465869489
|
0.00001
|
NM_000531.6(OTC):c.283T>C (p.Leu95=)
|
rs771474981
|
0.00001
|
NM_000531.6(OTC):c.345T>C (p.Asp115=)
|
rs755849455
|
0.00001
|
NM_000531.6(OTC):c.417G>A (p.Leu139=)
|
rs1416217766
|
0.00001
|
NM_000531.6(OTC):c.426G>A (p.Val142=)
|
rs760271775
|
0.00001
|
NM_000531.6(OTC):c.522T>G (p.Ala174=)
|
rs749594331
|
0.00001
|
NM_000531.6(OTC):c.540+10T>C
|
rs1333367271
|
0.00001
|
NM_000531.6(OTC):c.567T>C (p.Leu189=)
|
rs1401331899
|
0.00001
|
NM_000531.6(OTC):c.591G>A (p.Gly197=)
|
rs1569279948
|
0.00001
|
NM_000531.6(OTC):c.609C>T (p.Ser203=)
|
rs1354432045
|
0.00001
|
NM_000531.6(OTC):c.627G>A (p.Ala209=)
|
rs745635680
|
0.00001
|
NM_000531.6(OTC):c.663+7A>C
|
rs767994989
|
0.00001
|
NM_000531.6(OTC):c.66T>C (p.Val22=)
|
rs1237799169
|
0.00001
|
NM_000531.6(OTC):c.68G>A (p.Arg23Gln)
|
rs148660170
|
0.00001
|
NM_000531.6(OTC):c.708T>C (p.Tyr236=)
|
rs754974144
|
0.00001
|
NM_000531.6(OTC):c.717+5G>A
|
rs747637190
|
0.00001
|
NM_000531.6(OTC):c.736C>G (p.Leu246Val)
|
rs1168053730
|
0.00001
|
NM_000531.6(OTC):c.77+7G>A
|
rs745462108
|
0.00001
|
NM_000531.6(OTC):c.777A>G (p.Val259=)
|
rs1231550367
|
0.00001
|
NM_000531.6(OTC):c.867+8T>C
|
rs1190812009
|
0.00001
|
NM_000531.6(OTC):c.868-14C>T
|
rs1488225008
|
0.00001
|
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)
|
rs756772340
|
0.00001
|
NM_000531.6(OTC):c.945C>A (p.Val315=)
|
rs1296441032
|
0.00001
|
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=)
|
rs769437282
|
0.00001
|
NM_000532.5(PCCB):c.1091-14C>A
|
rs1053805085
|
0.00001
|
NM_000532.5(PCCB):c.1091-6T>C
|
rs778146041
|
0.00001
|
NM_000532.5(PCCB):c.1096T>C (p.Leu366=)
|
rs779828803
|
0.00001
|
NM_000532.5(PCCB):c.1104T>C (p.Ile368=)
|
rs768328410
|
0.00001
|
NM_000532.5(PCCB):c.1107T>C (p.Asn369=)
|
rs1025062139
|
0.00001
|
NM_000532.5(PCCB):c.1173T>C (p.Phe391=)
|
rs751750136
|
0.00001
|
NM_000532.5(PCCB):c.1198+19G>A
|
rs923951408
|
0.00001
|
NM_000532.5(PCCB):c.1199-4C>T
|
rs1361484856
|
0.00001
|
NM_000532.5(PCCB):c.1199-8A>G
|
rs886058019
|
0.00001
|
NM_000532.5(PCCB):c.1224C>T (p.Ile408=)
|
rs773701247
|
0.00001
|
NM_000532.5(PCCB):c.1251C>T (p.Tyr417=)
|
rs781546348
|
0.00001
|
NM_000532.5(PCCB):c.1300-11A>G
|
rs200406126
|
0.00001
|
NM_000532.5(PCCB):c.1302C>T (p.Ala434=)
|
rs755024380
|
0.00001
|
NM_000532.5(PCCB):c.1344T>C (p.Cys448=)
|
rs1306702510
|
0.00001
|
NM_000532.5(PCCB):c.1368C>T (p.Pro456=)
|
rs776005238
|
0.00001
|
NM_000532.5(PCCB):c.1383A>C (p.Ala461=)
|
rs1354285306
|
0.00001
|
NM_000532.5(PCCB):c.1399-10C>T
|
rs774180307
|
0.00001
|
NM_000532.5(PCCB):c.1401C>T (p.Gly467=)
|
rs142915585
|
0.00001
|
NM_000532.5(PCCB):c.142C>T (p.Leu48=)
|
rs376983709
|
0.00001
|
NM_000532.5(PCCB):c.1431G>A (p.Glu477=)
|
rs989893902
|
0.00001
|
NM_000532.5(PCCB):c.1499-6C>T
|
rs769854818
|
0.00001
|
NM_000532.5(PCCB):c.1521A>G (p.Gln507=)
|
rs774461715
|
0.00001
|
NM_000532.5(PCCB):c.1614A>G (p.Pro538=)
|
rs767287287
|
0.00001
|
NM_000532.5(PCCB):c.168C>T (p.Asp56=)
|
rs759008477
|
0.00001
|
NM_000532.5(PCCB):c.183+7C>G
|
rs1039491317
|
0.00001
|
NM_000532.5(PCCB):c.27G>A (p.Ala9=)
|
rs1402404407
|
0.00001
|
NM_000532.5(PCCB):c.297G>A (p.Lys99=)
|
rs768256081
|
0.00001
|
NM_000532.5(PCCB):c.303+13A>G
|
rs533887723
|
0.00001
|
NM_000532.5(PCCB):c.321G>C (p.Val107=)
|
rs201915067
|
0.00001
|
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
|
rs757534748
|
0.00001
|
NM_000532.5(PCCB):c.348A>G (p.Gly116=)
|
rs1057522223
|
0.00001
|
NM_000532.5(PCCB):c.373-13A>G
|
rs1559997795
|
0.00001
|
NM_000532.5(PCCB):c.373-7T>G
|
rs995479007
|
0.00001
|
NM_000532.5(PCCB):c.414C>T (p.Ala138=)
|
rs781142631
|
0.00001
|
NM_000532.5(PCCB):c.483T>G (p.Ser161=)
|
rs751200837
|
0.00001
|
NM_000532.5(PCCB):c.507A>C (p.Gly169=)
|
rs1334504053
|
0.00001
|
NM_000532.5(PCCB):c.544-4G>A
|
rs1390317726
|
0.00001
|
NM_000532.5(PCCB):c.54G>A (p.Ala18=)
|
rs1343618692
|
0.00001
|
NM_000532.5(PCCB):c.597A>G (p.Pro199=)
|
rs773799305
|
0.00001
|
NM_000532.5(PCCB):c.627C>T (p.Ala209=)
|
rs1157323383
|
0.00001
|
NM_000532.5(PCCB):c.630A>C (p.Leu210=)
|
rs1269554950
|
0.00001
|
NM_000532.5(PCCB):c.630A>G (p.Leu210=)
|
rs1269554950
|
0.00001
|
NM_000532.5(PCCB):c.63C>G (p.Leu21=)
|
rs1941478618
|
0.00001
|
NM_000532.5(PCCB):c.645C>T (p.Phe215=)
|
rs1250882565
|
0.00001
|
NM_000532.5(PCCB):c.654+14G>T
|
rs1457950469
|
0.00001
|
NM_000532.5(PCCB):c.660C>T (p.Thr220=)
|
rs376645261
|
0.00001
|
NM_000532.5(PCCB):c.723G>A (p.Gln241=)
|
rs751695055
|
0.00001
|
NM_000532.5(PCCB):c.732C>T (p.Leu244=)
|
rs752940167
|
0.00001
|
NM_000532.5(PCCB):c.741C>T (p.Ala247=)
|
rs191115697
|
0.00001
|
NM_000532.5(PCCB):c.747C>T (p.Thr249=)
|
rs746448544
|
0.00001
|
NM_000532.5(PCCB):c.75C>T (p.Val25=)
|
rs761030422
|
0.00001
|
NM_000532.5(PCCB):c.787A>G (p.Asn263Asp)
|
rs529945350
|
0.00001
|
NM_000532.5(PCCB):c.801C>T (p.Ala267=)
|
rs759508806
|
0.00001
|
NM_000532.5(PCCB):c.884+14C>T
|
rs372020160
|
0.00001
|
NM_000532.5(PCCB):c.884+15G>A
|
rs374909979
|
0.00001
|
NM_000532.5(PCCB):c.885-7C>T
|
rs1427637783
|
0.00001
|
NM_000532.5(PCCB):c.888C>T (p.Asp296=)
|
rs753285409
|
0.00001
|
NM_000532.5(PCCB):c.909C>T (p.Asp303=)
|
rs375740382
|
0.00001
|
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
|
rs572246667
|
0.00001
|
NM_000532.5(PCCB):c.966+20G>A
|
rs778065472
|
0.00001
|
NM_000532.5(PCCB):c.966+9C>T
|
rs1325021223
|
0.00001
|
NM_000532.5(PCCB):c.975T>C (p.Asp325=)
|
rs746146640
|
0.00001
|
NM_000532.5(PCCB):c.978G>A (p.Glu326=)
|
rs1419967211
|
0.00001
|
NM_000554.6(CRX):c.195C>T (p.Asp65=)
|
rs757731373
|
0.00001
|
NM_000554.6(CRX):c.273G>A (p.Arg91=)
|
rs1254989456
|
0.00001
|
NM_000554.6(CRX):c.363G>A (p.Ala121=)
|
rs141888455
|
0.00001
|
NM_000554.6(CRX):c.367A>G (p.Thr123Ala)
|
rs755554804
|
0.00001
|
NM_000554.6(CRX):c.696G>A (p.Pro232=)
|
rs1466177047
|
0.00001
|
NM_000554.6(CRX):c.726G>A (p.Val242=)
|
rs371406142
|
0.00001
|
NM_000554.6(CRX):c.846C>A (p.Pro282=)
|
rs1172429450
|
0.00001
|
NM_000687.4(AHCY):c.1015C>T (p.Leu339=)
|
rs373915089
|
0.00001
|
NM_000687.4(AHCY):c.1236G>A (p.Lys412=)
|
rs756185456
|
0.00001
|
NM_000687.4(AHCY):c.219+8C>T
|
rs768480898
|
0.00001
|
NM_000687.4(AHCY):c.309G>A (p.Lys103=)
|
rs201902693
|
0.00001
|
NM_000687.4(AHCY):c.558+13G>T
|
rs2297750
|
0.00001
|
NM_000687.4(AHCY):c.639C>T (p.Gly213=)
|
rs757357954
|
0.00001
|
NM_000687.4(AHCY):c.936C>T (p.Asn312=)
|
rs528770765
|
0.00001
|
NM_000687.4(AHCY):c.942C>T (p.Asn314=)
|
rs767550579
|
0.00001
|
NM_000709.4(BCKDHA):c.1038C>T (p.Arg346=)
|
rs1469254740
|
0.00001
|
NM_000709.4(BCKDHA):c.1053C>T (p.Val351=)
|
rs1480623363
|
0.00001
|
NM_000709.4(BCKDHA):c.1104G>T (p.Leu368=)
|
rs749040007
|
0.00001
|
NM_000709.4(BCKDHA):c.1137G>A (p.Glu379=)
|
rs935233075
|
0.00001
|
NM_000709.4(BCKDHA):c.1149G>A (p.Arg383=)
|
rs190202447
|
0.00001
|
NM_000709.4(BCKDHA):c.1158C>T (p.Ser386=)
|
rs1301881882
|
0.00001
|
NM_000709.4(BCKDHA):c.1167+9G>T
|
rs1365135243
|
0.00001
|
NM_000709.4(BCKDHA):c.1168-5C>T
|
rs1196167996
|
0.00001
|
NM_000709.4(BCKDHA):c.1176G>A (p.Glu392=)
|
rs767493580
|
0.00001
|
NM_000709.4(BCKDHA):c.1224C>T (p.Leu408=)
|
rs368383404
|
0.00001
|
NM_000709.4(BCKDHA):c.1257G>A (p.Gln419=)
|
rs1234860232
|
0.00001
|
NM_000709.4(BCKDHA):c.129G>A (p.Gln43=)
|
rs1355693373
|
0.00001
|
NM_000709.4(BCKDHA):c.1317A>G (p.Pro439=)
|
rs749795206
|
0.00001
|
NM_000709.4(BCKDHA):c.177G>A (p.Ala59=)
|
rs750926317
|
0.00001
|
NM_000709.4(BCKDHA):c.192G>A (p.Lys64=)
|
rs755750415
|
0.00001
|
NM_000709.4(BCKDHA):c.240C>T (p.Arg80=)
|
rs143167070
|
0.00001
|
NM_000709.4(BCKDHA):c.249C>T (p.Asp83=)
|
rs398123495
|
0.00001
|
NM_000709.4(BCKDHA):c.27G>A (p.Arg9=)
|
rs545537409
|
0.00001
|
NM_000709.4(BCKDHA):c.288+7G>A
|
rs780156666
|
0.00001
|
NM_000709.4(BCKDHA):c.375+10G>A
|
rs933606851
|
0.00001
|
NM_000709.4(BCKDHA):c.402C>T (p.Asn134=)
|
rs201638798
|
0.00001
|
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)
|
rs369278165
|
0.00001
|
NM_000709.4(BCKDHA):c.492G>C (p.Leu164=)
|
rs764618560
|
0.00001
|
NM_000709.4(BCKDHA):c.504C>T (p.Asp168=)
|
rs750857655
|
0.00001
|
NM_000709.4(BCKDHA):c.510C>G (p.Pro170=)
|
rs1163026059
|
0.00001
|
NM_000709.4(BCKDHA):c.615C>T (p.Ile205=)
|
rs768600012
|
0.00001
|
NM_000709.4(BCKDHA):c.618C>T (p.Ser206=)
|
rs144995574
|
0.00001
|
NM_000709.4(BCKDHA):c.646+12T>C
|
rs777143993
|
0.00001
|
NM_000709.4(BCKDHA):c.647-8C>T
|
rs763820194
|
0.00001
|
NM_000709.4(BCKDHA):c.657G>A (p.Ala219=)
|
rs770514966
|
0.00001
|
NM_000709.4(BCKDHA):c.660G>A (p.Ala220=)
|
rs547571406
|
0.00001
|
NM_000709.4(BCKDHA):c.681T>C (p.Asn227=)
|
rs1015416257
|
0.00001
|
NM_000709.4(BCKDHA):c.684C>T (p.Ala228=)
|
rs771485726
|
0.00001
|
NM_000709.4(BCKDHA):c.693C>T (p.Val231=)
|
rs763610087
|
0.00001
|
NM_000709.4(BCKDHA):c.699C>A (p.Ile233=)
|
rs1367109275
|
0.00001
|
NM_000709.4(BCKDHA):c.729G>A (p.Glu243=)
|
rs373175569
|
0.00001
|
NM_000709.4(BCKDHA):c.732G>A (p.Gly244=)
|
rs1192566664
|
0.00001
|
NM_000709.4(BCKDHA):c.735C>T (p.Asp245=)
|
rs766357034
|
0.00001
|
NM_000709.4(BCKDHA):c.736G>A (p.Ala246Thr)
|
rs536540966
|
0.00001
|
NM_000709.4(BCKDHA):c.73C>T (p.Leu25=)
|
rs778388437
|
0.00001
|
NM_000709.4(BCKDHA):c.756C>T (p.Phe252=)
|
rs756393197
|
0.00001
|
NM_000709.4(BCKDHA):c.995+10G>A
|
rs778460909
|
0.00001
|
NM_001002755.4(NFU1):c.300T>C (p.Ala100=)
|
rs201828730
|
0.00001
|
NM_001002755.4(NFU1):c.370-4A>G
|
rs1673014101
|
0.00001
|
NM_001002755.4(NFU1):c.545+7G>T
|
rs750179976
|
0.00001
|
NM_001002755.4(NFU1):c.699G>A (p.Pro233=)
|
rs200732109
|
0.00001
|
NM_001010867.4(IBA57):c.471G>A (p.Leu157=)
|
rs540662509
|
0.00001
|
NM_001010867.4(IBA57):c.639C>T (p.Leu213=)
|
rs751616087
|
0.00001
|
NM_001010867.4(IBA57):c.955C>T (p.Leu319=)
|
rs186655921
|
0.00001
|
NM_001017989.3(OPA3):c.534C>T (p.Ser178=)
|
rs1162879805
|
0.00001
|
NM_001024845.3(SLC6A9):c.1035C>T (p.Leu345=)
|
rs571108267
|
0.00001
|
NM_001024845.3(SLC6A9):c.1116C>T (p.Pro372=)
|
rs752071690
|
0.00001
|
NM_001024845.3(SLC6A9):c.1218G>A (p.Thr406=)
|
rs1366466556
|
0.00001
|
NM_001024845.3(SLC6A9):c.1335+11C>T
|
rs375920422
|
0.00001
|
NM_001024845.3(SLC6A9):c.1543C>T (p.Leu515=)
|
rs767975291
|
0.00001
|
NM_001024845.3(SLC6A9):c.1572G>A (p.Pro524=)
|
rs763994500
|
0.00001
|
NM_001024845.3(SLC6A9):c.1815C>T (p.Phe605=)
|
rs746391409
|
0.00001
|
NM_001024845.3(SLC6A9):c.189C>T (p.Gly63=)
|
rs780398424
|
0.00001
|
NM_001024845.3(SLC6A9):c.31-6225G>A
|
rs201727215
|
0.00001
|
NM_001024845.3(SLC6A9):c.31-693C>T
|
rs1236884799
|
0.00001
|
NM_001024845.3(SLC6A9):c.357C>T (p.Ile119=)
|
rs201434525
|
0.00001
|
NM_001024845.3(SLC6A9):c.762G>C (p.Leu254=)
|
rs1270315807
|
0.00001
|
NM_001080.3(ALDH5A1):c.1083C>T (p.Ala361=)
|
rs111525061
|
0.00001
|
NM_001080.3(ALDH5A1):c.1102C>T (p.Leu368=)
|
rs767434033
|
0.00001
|
NM_001080.3(ALDH5A1):c.1174-9A>C
|
rs370984312
|
0.00001
|
NM_001080.3(ALDH5A1):c.1197C>T (p.Ala399=)
|
rs747534238
|
0.00001
|
NM_001080.3(ALDH5A1):c.1216G>A (p.Val406Ile)
|
rs143741652
|
0.00001
|
NM_001080.3(ALDH5A1):c.1403-17_1403-15dup
|
rs1454619327
|
0.00001
|
NM_001080.3(ALDH5A1):c.1403-18C>A
|
rs757181768
|
0.00001
|
NM_001080.3(ALDH5A1):c.141C>T (p.Tyr47=)
|
rs1182147990
|
0.00001
|
NM_001080.3(ALDH5A1):c.1473C>T (p.Gly491=)
|
rs369192820
|
0.00001
|
NM_001080.3(ALDH5A1):c.147G>T (p.Gly49=)
|
rs1262777866
|
0.00001
|
NM_001080.3(ALDH5A1):c.186C>T (p.Asp62=)
|
rs1346879524
|
0.00001
|
NM_001080.3(ALDH5A1):c.213G>A (p.Pro71=)
|
rs1220581277
|
0.00001
|
NM_001080.3(ALDH5A1):c.219C>A (p.Ala73=)
|
rs1200016885
|
0.00001
|
NM_001080.3(ALDH5A1):c.21G>A (p.Leu7=)
|
rs762014234
|
0.00001
|
NM_001080.3(ALDH5A1):c.231C>G (p.Pro77=)
|
rs1160948222
|
0.00001
|
NM_001080.3(ALDH5A1):c.258T>C (p.Ala86=)
|
rs1225985397
|
0.00001
|
NM_001080.3(ALDH5A1):c.291G>A (p.Glu97=)
|
rs973569793
|
0.00001
|
NM_001080.3(ALDH5A1):c.354+7G>A
|
rs1171725478
|
0.00001
|
NM_001080.3(ALDH5A1):c.432T>C (p.Ala144=)
|
rs746895751
|
0.00001
|
NM_001080.3(ALDH5A1):c.439-7A>G
|
rs1437395260
|
0.00001
|
NM_001080.3(ALDH5A1):c.54G>A (p.Thr18=)
|
rs1254730579
|
0.00001
|
NM_001080.3(ALDH5A1):c.603C>A (p.Ile201=)
|
rs145003796
|
0.00001
|
NM_001080.3(ALDH5A1):c.615T>C (p.Asn205=)
|
rs1759307160
|
0.00001
|
NM_001080.3(ALDH5A1):c.711C>T (p.Ala237=)
|
rs893040301
|
0.00001
|
NM_001080.3(ALDH5A1):c.783A>G (p.Arg261=)
|
rs761068786
|
0.00001
|
NM_001080.3(ALDH5A1):c.885C>T (p.His295=)
|
rs367554353
|
0.00001
|
NM_001080.3(ALDH5A1):c.978A>T (p.Ala326=)
|
rs1234197652
|
0.00001
|
NM_001127222.2(CACNA1A):c.1071T>C (p.Gly357=)
|
rs1240852774
|
0.00001
|
NM_001127222.2(CACNA1A):c.1143G>A (p.Arg381=)
|
rs762033223
|
0.00001
|
NM_001127222.2(CACNA1A):c.117C>T (p.Gly39=)
|
rs374304094
|
0.00001
|
NM_001127222.2(CACNA1A):c.1209C>T (p.Ile403=)
|
rs559232599
|
0.00001
|
NM_001127222.2(CACNA1A):c.1230C>T (p.Asp410=)
|
rs751952553
|
0.00001
|
NM_001127222.2(CACNA1A):c.1256-18A>G
|
rs1369047772
|
0.00001
|
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)
|
rs201398669
|
0.00001
|
NM_001127222.2(CACNA1A):c.1327G>A (p.Ala443Thr)
|
rs866479368
|
0.00001
|
NM_001127222.2(CACNA1A):c.1346-7C>A
|
rs754052378
|
0.00001
|
NM_001127222.2(CACNA1A):c.135A>G (p.Gln45=)
|
rs764813421
|
0.00001
|
NM_001127222.2(CACNA1A):c.1389G>A (p.Glu463=)
|
rs886043657
|
0.00001
|
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn)
|
rs185034915
|
0.00001
|
NM_001127222.2(CACNA1A):c.1556-12T>C
|
rs749749321
|
0.00001
|
NM_001127222.2(CACNA1A):c.162G>A (p.Gln54=)
|
rs762262807
|
0.00001
|
NM_001127222.2(CACNA1A):c.1644T>C (p.Ser548=)
|
rs772855559
|
0.00001
|
NM_001127222.2(CACNA1A):c.1647C>T (p.Ser549=)
|
rs866879440
|
0.00001
|
NM_001127222.2(CACNA1A):c.1668+10C>T
|
rs545368463
|
0.00001
|
NM_001127222.2(CACNA1A):c.1668+11T>C
|
rs200980685
|
0.00001
|
NM_001127222.2(CACNA1A):c.1668+19A>G
|
rs771087905
|
0.00001
|
NM_001127222.2(CACNA1A):c.1669-17C>T
|
rs755846938
|
0.00001
|
NM_001127222.2(CACNA1A):c.1692G>A (p.Glu564=)
|
rs371827685
|
0.00001
|
NM_001127222.2(CACNA1A):c.1804C>T (p.Leu602=)
|
rs16014
|
0.00001
|
NM_001127222.2(CACNA1A):c.1809C>T (p.Val603=)
|
rs560241650
|
0.00001
|
NM_001127222.2(CACNA1A):c.1848G>A (p.Leu616=)
|
rs1164864162
|
0.00001
|
NM_001127222.2(CACNA1A):c.1875C>T (p.Val625=)
|
rs774629539
|
0.00001
|
NM_001127222.2(CACNA1A):c.1899A>G (p.Gln633=)
|
rs769887736
|
0.00001
|
NM_001127222.2(CACNA1A):c.1913+8C>T
|
rs770833278
|
0.00001
|
NM_001127222.2(CACNA1A):c.1950C>T (p.Phe650=)
|
rs747730451
|
0.00001
|
NM_001127222.2(CACNA1A):c.1977G>A (p.Thr659=)
|
rs371952989
|
0.00001
|
NM_001127222.2(CACNA1A):c.1989C>T (p.Ile663=)
|
rs764413479
|
0.00001
|
NM_001127222.2(CACNA1A):c.2022C>T (p.Tyr674=)
|
rs940460024
|
0.00001
|
NM_001127222.2(CACNA1A):c.2025C>T (p.Asp675=)
|
rs1170735669
|
0.00001
|
NM_001127222.2(CACNA1A):c.2043G>A (p.Gly681=)
|
rs750324942
|
0.00001
|
NM_001127222.2(CACNA1A):c.2052G>A (p.Gln684=)
|
rs774083779
|
0.00001
|
NM_001127222.2(CACNA1A):c.2055C>T (p.Gly685=)
|
rs768332997
|
0.00001
|
NM_001127222.2(CACNA1A):c.210C>T (p.Asn70=)
|
rs1417918847
|
0.00001
|
NM_001127222.2(CACNA1A):c.2124C>T (p.Phe708=)
|
rs762654239
|
0.00001
|
NM_001127222.2(CACNA1A):c.2133C>T (p.Ile711=)
|
rs764839814
|
0.00001
|
NM_001127222.2(CACNA1A):c.2172+8C>T
|
rs200277127
|
0.00001
|
NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val)
|
rs1335209785
|
0.00001
|
NM_001127222.2(CACNA1A):c.2199G>A (p.Ala733=)
|
rs1463843521
|
0.00001
|
NM_001127222.2(CACNA1A):c.2265C>T (p.Asn755=)
|
rs1382705855
|
0.00001
|
NM_001127222.2(CACNA1A):c.2289A>G (p.Gln763=)
|
rs771044445
|
0.00001
|
NM_001127222.2(CACNA1A):c.2310C>G (p.Ala770=)
|
rs1375569922
|
0.00001
|
NM_001127222.2(CACNA1A):c.2340G>A (p.Glu780=)
|
rs562717028
|
0.00001
|
NM_001127222.2(CACNA1A):c.2349G>A (p.Lys783=)
|
rs1187115036
|
0.00001
|
NM_001127222.2(CACNA1A):c.2358G>A (p.Leu786=)
|
rs749958045
|
0.00001
|
NM_001127222.2(CACNA1A):c.2364C>T (p.Ala788=)
|
rs766996486
|
0.00001
|
NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile)
|
rs370746809
|
0.00001
|
NM_001127222.2(CACNA1A):c.2397G>A (p.Pro799=)
|
rs996453280
|
0.00001
|
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)
|
rs760816963
|
0.00001
|
NM_001127222.2(CACNA1A):c.2520G>A (p.Ala840=)
|
rs1367532933
|
0.00001
|
NM_001127222.2(CACNA1A):c.255C>T (p.Asn85=)
|
rs1285665891
|
0.00001
|
NM_001127222.2(CACNA1A):c.2571C>T (p.Phe857=)
|
rs1222215404
|
0.00001
|
NM_001127222.2(CACNA1A):c.2622G>A (p.Ser874=)
|
rs1334069330
|
0.00001
|
NM_001127222.2(CACNA1A):c.2641A>C (p.Arg881=)
|
rs1361559490
|
0.00001
|
NM_001127222.2(CACNA1A):c.2651C>T (p.Ala884Val)
|
rs746582791
|
0.00001
|
NM_001127222.2(CACNA1A):c.2655A>G (p.Gly885=)
|
rs1057524746
|
0.00001
|
NM_001127222.2(CACNA1A):c.2658C>T (p.Ser886=)
|
rs1462953587
|
0.00001
|
NM_001127222.2(CACNA1A):c.2679G>T (p.Arg893=)
|
rs2057731363
|
0.00001
|
NM_001127222.2(CACNA1A):c.2696G>A (p.Arg899His)
|
rs1290079536
|
0.00001
|
NM_001127222.2(CACNA1A):c.270C>T (p.Tyr90=)
|
rs371957971
|
0.00001
|
NM_001127222.2(CACNA1A):c.2781C>T (p.Asp927=)
|
rs1216508972
|
0.00001
|
NM_001127222.2(CACNA1A):c.2799G>A (p.Val933=)
|
rs761397410
|
0.00001
|
NM_001127222.2(CACNA1A):c.2809G>C (p.Gly937Arg)
|
rs746428515
|
0.00001
|
NM_001127222.2(CACNA1A):c.2811G>T (p.Gly937=)
|
rs1322679497
|
0.00001
|
NM_001127222.2(CACNA1A):c.2872C>A (p.His958Asn)
|
rs923472334
|
0.00001
|
NM_001127222.2(CACNA1A):c.2919G>A (p.Ala973=)
|
rs1229290225
|
0.00001
|
NM_001127222.2(CACNA1A):c.2938C>T (p.Arg980Cys)
|
rs778978325
|
0.00001
|
NM_001127222.2(CACNA1A):c.294-17C>T
|
rs752007612
|
0.00001
|
NM_001127222.2(CACNA1A):c.2959C>G (p.Arg987Gly)
|
rs1489702072
|
0.00001
|
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=)
|
rs1347561457
|
0.00001
|
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)
|
rs781006387
|
0.00001
|
NM_001127222.2(CACNA1A):c.3015C>T (p.His1005=)
|
rs1226532363
|
0.00001
|
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His)
|
rs200850308
|
0.00001
|
NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu)
|
rs748935741
|
0.00001
|
NM_001127222.2(CACNA1A):c.3234G>A (p.Ser1078=)
|
rs1331367408
|
0.00001
|
NM_001127222.2(CACNA1A):c.3238G>A (p.Ala1080Thr)
|
rs577581172
|
0.00001
|
NM_001127222.2(CACNA1A):c.3246C>T (p.His1082=)
|
rs556541935
|
0.00001
|
NM_001127222.2(CACNA1A):c.3247G>A (p.Gly1083Ser)
|
rs753077104
|
0.00001
|
NM_001127222.2(CACNA1A):c.3261C>T (p.His1087=)
|
rs776799566
|
0.00001
|
NM_001127222.2(CACNA1A):c.3303C>T (p.Thr1101=)
|
rs748999071
|
0.00001
|
NM_001127222.2(CACNA1A):c.330G>A (p.Ala110=)
|
rs375486960
|
0.00001
|
NM_001127222.2(CACNA1A):c.3334A>C (p.Met1112Leu)
|
rs755317765
|
0.00001
|
NM_001127222.2(CACNA1A):c.3347C>T (p.Pro1116Leu)
|
rs760744104
|
0.00001
|
NM_001127222.2(CACNA1A):c.3357C>T (p.Ala1119=)
|
rs372364153
|
0.00001
|
NM_001127222.2(CACNA1A):c.3383C>T (p.Pro1128Leu)
|
rs754208553
|
0.00001
|
NM_001127222.2(CACNA1A):c.339C>T (p.Ile113=)
|
rs185952971
|
0.00001
|
NM_001127222.2(CACNA1A):c.3402C>T (p.Pro1134=)
|
rs767675502
|
0.00001
|
NM_001127222.2(CACNA1A):c.3435C>T (p.Ile1145=)
|
rs781300443
|
0.00001
|
NM_001127222.2(CACNA1A):c.3450C>T (p.Ser1150=)
|
rs751700486
|
0.00001
|
NM_001127222.2(CACNA1A):c.345C>G (p.Leu115=)
|
rs747917423
|
0.00001
|
NM_001127222.2(CACNA1A):c.3497C>T (p.Thr1166Ile)
|
rs746222908
|
0.00001
|
NM_001127222.2(CACNA1A):c.3501A>G (p.Thr1167=)
|
rs1467183042
|
0.00001
|
NM_001127222.2(CACNA1A):c.3520T>G (p.Cys1174Gly)
|
rs996509493
|
0.00001
|
NM_001127222.2(CACNA1A):c.3543C>T (p.Thr1181=)
|
rs773844470
|
0.00001
|
NM_001127222.2(CACNA1A):c.3553+7C>G
|
rs878865349
|
0.00001
|
NM_001127222.2(CACNA1A):c.3636C>T (p.Asp1212=)
|
rs757943547
|
0.00001
|
NM_001127222.2(CACNA1A):c.3639C>T (p.Gly1213=)
|
rs976780203
|
0.00001
|
NM_001127222.2(CACNA1A):c.367G>A (p.Asp123Asn)
|
rs753467037
|
0.00001
|
NM_001127222.2(CACNA1A):c.3692+20A>G
|
rs934863410
|
0.00001
|
NM_001127222.2(CACNA1A):c.3700C>T (p.Arg1234Cys)
|
rs781738239
|
0.00001
|
NM_001127222.2(CACNA1A):c.3724C>T (p.Leu1242=)
|
rs1275961783
|
0.00001
|
NM_001127222.2(CACNA1A):c.3750C>T (p.Leu1250=)
|
rs1238454656
|
0.00001
|
NM_001127222.2(CACNA1A):c.3778C>T (p.Leu1260=)
|
rs944942986
|
0.00001
|
NM_001127222.2(CACNA1A):c.3783C>T (p.Ala1261=)
|
rs1057523661
|
0.00001
|
NM_001127222.2(CACNA1A):c.3882+10G>C
|
rs183712582
|
0.00001
|
NM_001127222.2(CACNA1A):c.3883-5C>T
|
rs748652953
|
0.00001
|
NM_001127222.2(CACNA1A):c.399+20A>G
|
rs1192777400
|
0.00001
|
NM_001127222.2(CACNA1A):c.400-19T>C
|
rs2060943767
|
0.00001
|
NM_001127222.2(CACNA1A):c.4047G>T (p.Val1349=)
|
rs1265632174
|
0.00001
|
NM_001127222.2(CACNA1A):c.4090-16C>G
|
rs758220361
|
0.00001
|
NM_001127222.2(CACNA1A):c.4143C>T (p.Ile1381=)
|
rs1244179413
|
0.00001
|
NM_001127222.2(CACNA1A):c.4170C>T (p.Phe1390=)
|
rs760102802
|
0.00001
|
NM_001127222.2(CACNA1A):c.4203A>G (p.Lys1401=)
|
rs1160017642
|
0.00001
|
NM_001127222.2(CACNA1A):c.4256A>G (p.Lys1419Arg)
|
rs574194354
|
0.00001
|
NM_001127222.2(CACNA1A):c.4263C>T (p.Leu1421=)
|
rs1173445536
|
0.00001
|
NM_001127222.2(CACNA1A):c.4293A>G (p.Arg1431=)
|
rs913405402
|
0.00001
|
NM_001127222.2(CACNA1A):c.4302G>A (p.Glu1434=)
|
rs1052611146
|
0.00001
|
NM_001127222.2(CACNA1A):c.4389-15C>T
|
rs1356998435
|
0.00001
|
NM_001127222.2(CACNA1A):c.4389-7C>T
|
rs1417689500
|
0.00001
|
NM_001127222.2(CACNA1A):c.438C>T (p.Phe146=)
|
rs755662617
|
0.00001
|
NM_001127222.2(CACNA1A):c.4467C>T (p.Phe1489=)
|
rs1600186663
|
0.00001
|
NM_001127222.2(CACNA1A):c.4590+12A>G
|
rs760554391
|
0.00001
|
NM_001127222.2(CACNA1A):c.4590+13A>G
|
rs1190654202
|
0.00001
|
NM_001127222.2(CACNA1A):c.4659C>T (p.Ser1553=)
|
rs966897092
|
0.00001
|
NM_001127222.2(CACNA1A):c.4668C>T (p.Tyr1556=)
|
rs370203027
|
0.00001
|
NM_001127222.2(CACNA1A):c.4707C>T (p.Tyr1569=)
|
rs201475701
|
0.00001
|
NM_001127222.2(CACNA1A):c.4725C>T (p.Ile1575=)
|
rs751308492
|
0.00001
|
NM_001127222.2(CACNA1A):c.4807G>A (p.Val1603Ile)
|
rs943715197
|
0.00001
|
NM_001127222.2(CACNA1A):c.4821C>A (p.Leu1607=)
|
rs2056444098
|
0.00001
|
NM_001127222.2(CACNA1A):c.4824C>T (p.Phe1608=)
|
rs1176237039
|
0.00001
|
NM_001127222.2(CACNA1A):c.4935C>T (p.Leu1645=)
|
rs1401183344
|
0.00001
|
NM_001127222.2(CACNA1A):c.5067+10C>T
|
rs549805937
|
0.00001
|
NM_001127222.2(CACNA1A):c.5088G>A (p.Leu1696=)
|
rs767743815
|
0.00001
|
NM_001127222.2(CACNA1A):c.5094C>T (p.Ile1698=)
|
rs201844207
|
0.00001
|
NM_001127222.2(CACNA1A):c.5134-11C>T
|
rs41276882
|
0.00001
|
NM_001127222.2(CACNA1A):c.5154C>T (p.Ile1718=)
|
rs751799133
|
0.00001
|
NM_001127222.2(CACNA1A):c.5193A>C (p.Gln1731His)
|
rs773031818
|
0.00001
|
NM_001127222.2(CACNA1A):c.5249+8G>C
|
rs747305291
|
0.00001
|
NM_001127222.2(CACNA1A):c.5250-8G>C
|
rs1555737120
|
0.00001
|
NM_001127222.2(CACNA1A):c.5256C>T (p.Ala1752=)
|
rs753902560
|
0.00001
|
NM_001127222.2(CACNA1A):c.5298C>T (p.Ser1766=)
|
rs767315464
|
0.00001
|
NM_001127222.2(CACNA1A):c.5313T>C (p.Asp1771=)
|
rs2055674093
|
0.00001
|
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)
|
rs886043622
|
0.00001
|
NM_001127222.2(CACNA1A):c.531G>T (p.Val177=)
|
rs1294737592
|
0.00001
|
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln)
|
rs267605294
|
0.00001
|
NM_001127222.2(CACNA1A):c.539+11C>T
|
rs115447563
|
0.00001
|
NM_001127222.2(CACNA1A):c.539+8G>T
|
rs372925573
|
0.00001
|
NM_001127222.2(CACNA1A):c.540-9T>G
|
rs1172688314
|
0.00001
|
NM_001127222.2(CACNA1A):c.5400+7C>T
|
rs1046598864
|
0.00001
|
NM_001127222.2(CACNA1A):c.5400+8T>C
|
rs772508313
|
0.00001
|
NM_001127222.2(CACNA1A):c.5418C>T (p.Val1806=)
|
rs561301072
|
0.00001
|
NM_001127222.2(CACNA1A):c.5520C>T (p.Pro1840=)
|
rs754521399
|
0.00001
|
NM_001127222.2(CACNA1A):c.5528+16G>A
|
rs775890060
|
0.00001
|
NM_001127222.2(CACNA1A):c.5528+6A>G
|
rs762224302
|
0.00001
|
NM_001127222.2(CACNA1A):c.5626-6C>G
|
rs769606952
|
0.00001
|
NM_001127222.2(CACNA1A):c.5706A>G (p.Thr1902=)
|
rs1434572084
|
0.00001
|
NM_001127222.2(CACNA1A):c.5731+19C>T
|
rs1259224644
|
0.00001
|
NM_001127222.2(CACNA1A):c.5732-8C>T
|
rs1057521521
|
0.00001
|
NM_001127222.2(CACNA1A):c.573A>G (p.Leu191=)
|
rs1229065392
|
0.00001
|
NM_001127222.2(CACNA1A):c.5760T>C (p.Ala1920=)
|
rs760343725
|
0.00001
|
NM_001127222.2(CACNA1A):c.5768G>A (p.Arg1923Gln)
|
rs771636070
|
0.00001
|
NM_001127222.2(CACNA1A):c.5784G>A (p.Ala1928=)
|
rs770231014
|
0.00001
|
NM_001127222.2(CACNA1A):c.5795A>G (p.Asn1932Ser)
|
rs1205866071
|
0.00001
|
NM_001127222.2(CACNA1A):c.5811G>A (p.Thr1937=)
|
rs747273411
|
0.00001
|
NM_001127222.2(CACNA1A):c.5839+10G>A
|
rs371733571
|
0.00001
|
NM_001127222.2(CACNA1A):c.5840-15dup
|
rs1428959852
|
0.00001
|
NM_001127222.2(CACNA1A):c.5871A>G (p.Ala1957=)
|
rs751132291
|
0.00001
|
NM_001127222.2(CACNA1A):c.5937G>A (p.Glu1979=)
|
rs768860392
|
0.00001
|
NM_001127222.2(CACNA1A):c.6012C>T (p.Asn2004=)
|
rs764448299
|
0.00001
|
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=)
|
rs369675855
|
0.00001
|
NM_001127222.2(CACNA1A):c.6050+9C>T
|
rs1401679003
|
0.00001
|
NM_001127222.2(CACNA1A):c.6051-11C>A
|
rs759586410
|
0.00001
|
NM_001127222.2(CACNA1A):c.6060C>T (p.His2020=)
|
rs1282402038
|
0.00001
|
NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=)
|
rs886043571
|
0.00001
|
NM_001127222.2(CACNA1A):c.6096C>A (p.Thr2032=)
|
rs2054850952
|
0.00001
|
NM_001127222.2(CACNA1A):c.613C>T (p.Leu205=)
|
rs2059326322
|
0.00001
|
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=)
|
rs760682283
|
0.00001
|
NM_001127222.2(CACNA1A):c.6162C>A (p.Asp2054Glu)
|
rs774164327
|
0.00001
|
NM_001127222.2(CACNA1A):c.6190-18T>C
|
rs751366127
|
0.00001
|
NM_001127222.2(CACNA1A):c.6190-4G>A
|
rs769551839
|
0.00001
|
NM_001127222.2(CACNA1A):c.6190-5C>T
|
rs368180309
|
0.00001
|
NM_001127222.2(CACNA1A):c.6228C>T (p.Ser2076=)
|
rs781315895
|
0.00001
|
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu)
|
rs751515136
|
0.00001
|
NM_001127222.2(CACNA1A):c.6295G>A (p.Glu2099Lys)
|
rs757385012
|
0.00001
|
NM_001127222.2(CACNA1A):c.6303+14C>T
|
rs777901156
|
0.00001
|
NM_001127222.2(CACNA1A):c.6340-9C>T
|
rs1297370748
|
0.00001
|
NM_001127222.2(CACNA1A):c.6360C>T (p.Pro2120=)
|
rs1442058627
|
0.00001
|
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=)
|
rs760994682
|
0.00001
|
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)
|
rs750077868
|
0.00001
|
NM_001127222.2(CACNA1A):c.6435C>T (p.Pro2145=)
|
rs1456597171
|
0.00001
|
NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln)
|
rs751044309
|
0.00001
|
NM_001127222.2(CACNA1A):c.6463C>T (p.Arg2155Cys)
|
rs766661019
|
0.00001
|
NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn)
|
rs1042634748
|
0.00001
|
NM_001127222.2(CACNA1A):c.6481C>T (p.Arg2161Cys)
|
rs1198604369
|
0.00001
|
NM_001127222.2(CACNA1A):c.6501G>T (p.Leu2167=)
|
rs781746273
|
0.00001
|
NM_001127222.2(CACNA1A):c.6527-5C>T
|
rs1193230442
|
0.00001
|
NM_001127222.2(CACNA1A):c.6527-8C>T
|
rs1265326582
|
0.00001
|
NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu)
|
rs1325697290
|
0.00001
|
NM_001127222.2(CACNA1A):c.6582G>A (p.Glu2194=)
|
rs777446478
|
0.00001
|
NM_001127222.2(CACNA1A):c.6588C>A (p.Asp2196Glu)
|
rs1168700437
|
0.00001
|
NM_001127222.2(CACNA1A):c.6606C>T (p.Pro2202=)
|
rs1219161255
|
0.00001
|
NM_001127222.2(CACNA1A):c.6648C>T (p.His2216=)
|
rs1281394713
|
0.00001
|
NM_001127222.2(CACNA1A):c.6667C>T (p.Pro2223Ser)
|
rs768221184
|
0.00001
|
NM_001127222.2(CACNA1A):c.6696G>A (p.Arg2232=)
|
rs1392174465
|
0.00001
|
NM_001127222.2(CACNA1A):c.6698C>T (p.Pro2233Leu)
|
rs1317740666
|
0.00001
|
NM_001127222.2(CACNA1A):c.6705C>T (p.His2235=)
|
rs1376732755
|
0.00001
|
NM_001127222.2(CACNA1A):c.6706G>A (p.Gly2236Ser)
|
rs752808137
|
0.00001
|
NM_001127222.2(CACNA1A):c.6716G>A (p.Arg2239Gln)
|
rs753798870
|
0.00001
|
NM_001127222.2(CACNA1A):c.6732C>T (p.Arg2244=)
|
rs1406247650
|
0.00001
|
NM_001127222.2(CACNA1A):c.6747C>T (p.Pro2249=)
|
rs747396290
|
0.00001
|
NM_001127222.2(CACNA1A):c.6750C>T (p.Ser2250=)
|
rs375958273
|
0.00001
|
NM_001127222.2(CACNA1A):c.6758G>A (p.Arg2253Gln)
|
rs752950486
|
0.00001
|
NM_001127222.2(CACNA1A):c.6780+7G>A
|
rs2054677545
|
0.00001
|
NM_001127222.2(CACNA1A):c.684G>A (p.Gln228=)
|
rs1356192843
|
0.00001
|
NM_001127222.2(CACNA1A):c.714T>C (p.Leu238=)
|
rs1451920573
|
0.00001
|
NM_001127222.2(CACNA1A):c.726C>T (p.Ile242=)
|
rs1169274623
|
0.00001
|
NM_001127222.2(CACNA1A):c.74T>G (p.Val25Gly)
|
rs565157998
|
0.00001
|
NM_001127222.2(CACNA1A):c.774A>G (p.Glu258=)
|
rs770324320
|
0.00001
|
NM_001127222.2(CACNA1A):c.784+11G>A
|
rs757532272
|
0.00001
|
NM_001127222.2(CACNA1A):c.786T>C (p.Asp262=)
|
rs944129354
|
0.00001
|
NM_001127222.2(CACNA1A):c.78C>G (p.Gly26=)
|
rs748434655
|
0.00001
|
NM_001127222.2(CACNA1A):c.864G>A (p.Gln288=)
|
rs770448965
|
0.00001
|
NM_001127222.2(CACNA1A):c.867C>T (p.Pro289=)
|
rs777059446
|
0.00001
|
NM_001127222.2(CACNA1A):c.885C>T (p.Asn295=)
|
rs981058428
|
0.00001
|
NM_001127222.2(CACNA1A):c.978+10G>T
|
rs1015293932
|
0.00001
|
NM_001127222.2(CACNA1A):c.979-7C>T
|
rs1375150525
|
0.00001
|
NM_001243279.3(ACSF3):c.1011C>T (p.Leu337=)
|
rs757799912
|
0.00001
|
NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=)
|
rs747906365
|
0.00001
|
NM_001243279.3(ACSF3):c.105C>T (p.Ala35=)
|
rs779450250
|
0.00001
|
NM_001243279.3(ACSF3):c.1095C>T (p.Ser365=)
|
rs148716626
|
0.00001
|
NM_001243279.3(ACSF3):c.1098G>A (p.Gly366=)
|
rs967555706
|
0.00001
|
NM_001243279.3(ACSF3):c.1101C>T (p.Pro367=)
|
rs765752531
|
0.00001
|
NM_001243279.3(ACSF3):c.1107C>A (p.Thr369=)
|
rs750959933
|
0.00001
|
NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=)
|
rs1373279774
|
0.00001
|
NM_001243279.3(ACSF3):c.1127-7C>G
|
rs761564953
|
0.00001
|
NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu)
|
rs747598756
|
0.00001
|
NM_001243279.3(ACSF3):c.1212C>T (p.His404=)
|
rs750140114
|
0.00001
|
NM_001243279.3(ACSF3):c.1215A>G (p.Ala405=)
|
rs766100388
|
0.00001
|
NM_001243279.3(ACSF3):c.1239+9C>G
|
rs376238513
|
0.00001
|
NM_001243279.3(ACSF3):c.12T>C (p.His4=)
|
rs1210564027
|
0.00001
|
NM_001243279.3(ACSF3):c.1359T>C (p.Phe453=)
|
rs1321315792
|
0.00001
|
NM_001243279.3(ACSF3):c.1366+8C>T
|
rs773327286
|
0.00001
|
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=)
|
rs761654873
|
0.00001
|
NM_001243279.3(ACSF3):c.1501+10C>T
|
rs375729407
|
0.00001
|
NM_001243279.3(ACSF3):c.1502-10C>T
|
rs573043890
|
0.00001
|
NM_001243279.3(ACSF3):c.1502-8A>G
|
rs760700508
|
0.00001
|
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=)
|
rs149803422
|
0.00001
|
NM_001243279.3(ACSF3):c.1632C>T (p.Tyr544=)
|
rs757338614
|
0.00001
|
NM_001243279.3(ACSF3):c.1656G>A (p.Leu552=)
|
rs1025781878
|
0.00001
|
NM_001243279.3(ACSF3):c.1722C>T (p.His574=)
|
rs757130082
|
0.00001
|
NM_001243279.3(ACSF3):c.189C>T (p.His63=)
|
rs562260243
|
0.00001
|
NM_001243279.3(ACSF3):c.201G>A (p.Thr67=)
|
rs1259149379
|
0.00001
|
NM_001243279.3(ACSF3):c.267C>T (p.Val89=)
|
rs746883692
|
0.00001
|
NM_001243279.3(ACSF3):c.324C>T (p.Tyr108=)
|
rs763021932
|
0.00001
|
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=)
|
rs182147718
|
0.00001
|
NM_001243279.3(ACSF3):c.384G>A (p.Lys128=)
|
rs541662926
|
0.00001
|
NM_001243279.3(ACSF3):c.393G>A (p.Ala131=)
|
rs905316715
|
0.00001
|
NM_001243279.3(ACSF3):c.417C>T (p.Cys139=)
|
rs775755554
|
0.00001
|
NM_001243279.3(ACSF3):c.465C>T (p.Leu155=)
|
rs1377484799
|
0.00001
|
NM_001243279.3(ACSF3):c.507G>A (p.Pro169=)
|
rs775166866
|
0.00001
|
NM_001243279.3(ACSF3):c.555C>T (p.Val185=)
|
rs1260446910
|
0.00001
|
NM_001243279.3(ACSF3):c.588C>T (p.Gly196=)
|
rs373441358
|
0.00001
|
NM_001243279.3(ACSF3):c.648C>T (p.His216=)
|
rs377553361
|
0.00001
|
NM_001243279.3(ACSF3):c.663T>C (p.Ala221=)
|
rs1374928980
|
0.00001
|
NM_001243279.3(ACSF3):c.678G>A (p.Leu226=)
|
rs1336029211
|
0.00001
|
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=)
|
rs766852572
|
0.00001
|
NM_001243279.3(ACSF3):c.738C>T (p.His246=)
|
rs112722289
|
0.00001
|
NM_001243279.3(ACSF3):c.741C>A (p.Val247=)
|
rs773357766
|
0.00001
|
NM_001243279.3(ACSF3):c.760C>T (p.Leu254=)
|
rs764919377
|
0.00001
|
NM_001243279.3(ACSF3):c.816T>G (p.Pro272=)
|
rs1321795303
|
0.00001
|
NM_001243279.3(ACSF3):c.823-5C>T
|
rs192714121
|
0.00001
|
NM_001243279.3(ACSF3):c.918G>A (p.Arg306=)
|
rs942841837
|
0.00001
|
NM_001243279.3(ACSF3):c.957A>C (p.Ala319=)
|
rs1165098721
|
0.00001
|
NM_001258392.3(CLPB):c.1067-4C>A
|
rs1311832888
|
0.00001
|
NM_001258392.3(CLPB):c.1123-14T>C
|
rs761493633
|
0.00001
|
NM_001258392.3(CLPB):c.1200C>T (p.Tyr400=)
|
rs536717344
|
0.00001
|
NM_001258392.3(CLPB):c.1312C>T (p.Leu438=)
|
rs539751194
|
0.00001
|
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=)
|
rs776452795
|
0.00001
|
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=)
|
rs1315933008
|
0.00001
|
NM_001258392.3(CLPB):c.1407C>T (p.Ser469=)
|
rs747632383
|
0.00001
|
NM_001258392.3(CLPB):c.1428G>A (p.Ala476=)
|
rs750997439
|
0.00001
|
NM_001258392.3(CLPB):c.1461C>T (p.Ser487=)
|
rs752870447
|
0.00001
|
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg)
|
rs571871217
|
0.00001
|
NM_001258392.3(CLPB):c.1542G>A (p.Val514=)
|
rs935570035
|
0.00001
|
NM_001258392.3(CLPB):c.1581G>A (p.Glu527=)
|
rs752634197
|
0.00001
|
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=)
|
rs200970392
|
0.00001
|
NM_001258392.3(CLPB):c.1681-14C>T
|
rs746122828
|
0.00001
|
NM_001258392.3(CLPB):c.1740C>T (p.Val580=)
|
rs759628306
|
0.00001
|
NM_001258392.3(CLPB):c.1741G>A (p.Asp581Asn)
|
rs776835116
|
0.00001
|
NM_001258392.3(CLPB):c.1785+7A>G
|
rs745442561
|
0.00001
|
NM_001258392.3(CLPB):c.1785+8C>T
|
rs1446394124
|
0.00001
|
NM_001258392.3(CLPB):c.1786-5G>A
|
rs756715990
|
0.00001
|
NM_001258392.3(CLPB):c.1968C>T (p.Asp656=)
|
rs757217501
|
0.00001
|
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=)
|
rs894319387
|
0.00001
|
NM_001258392.3(CLPB):c.261T>C (p.Thr87=)
|
rs1427118335
|
0.00001
|
NM_001258392.3(CLPB):c.39G>A (p.Ala13=)
|
rs572605602
|
0.00001
|
NM_001258392.3(CLPB):c.531C>T (p.Asn177=)
|
rs771786059
|
0.00001
|
NM_001258392.3(CLPB):c.57G>C (p.Arg19=)
|
rs112362953
|
0.00001
|
NM_001258392.3(CLPB):c.58C>T (p.Leu20=)
|
rs150558227
|
0.00001
|
NM_001258392.3(CLPB):c.646+13T>C
|
rs370275901
|
0.00001
|
NM_001258392.3(CLPB):c.647-6C>T
|
rs1377454533
|
0.00001
|
NM_001258392.3(CLPB):c.771T>C (p.Asp257=)
|
rs143460015
|
0.00001
|
NM_001258392.3(CLPB):c.775+13G>A
|
rs746972083
|
0.00001
|
NM_001258392.3(CLPB):c.817T>C (p.Leu273=)
|
rs1950189871
|
0.00001
|
NM_001258392.3(CLPB):c.849G>A (p.Lys283=)
|
rs759743960
|
0.00001
|
NM_001258392.3(CLPB):c.873+12G>A
|
rs199805574
|
0.00001
|
NM_001271.4(CHD2):c.1052+14C>G
|
rs146319346
|
0.00001
|
NM_001271.4(CHD2):c.1104G>A (p.Glu368=)
|
rs757569320
|
0.00001
|
NM_001271.4(CHD2):c.1154-6G>A
|
rs1275001828
|
0.00001
|
NM_001271.4(CHD2):c.1188A>G (p.Thr396=)
|
rs199553245
|
0.00001
|
NM_001271.4(CHD2):c.1199-9A>G
|
rs1210573353
|
0.00001
|
NM_001271.4(CHD2):c.1220C>T (p.Pro407Leu)
|
rs372219984
|
0.00001
|
NM_001271.4(CHD2):c.1248A>G (p.Lys416=)
|
rs1034535662
|
0.00001
|
NM_001271.4(CHD2):c.1317T>C (p.Asn439=)
|
rs753188917
|
0.00001
|
NM_001271.4(CHD2):c.1321A>T (p.Ile441Phe)
|
rs763586960
|
0.00001
|
NM_001271.4(CHD2):c.1335C>T (p.His445=)
|
rs140008471
|
0.00001
|
NM_001271.4(CHD2):c.1378-18T>C
|
rs748100193
|
0.00001
|
NM_001271.4(CHD2):c.1503-5T>C
|
rs1008040869
|
0.00001
|
NM_001271.4(CHD2):c.1503-6C>T
|
rs768998067
|
0.00001
|
NM_001271.4(CHD2):c.1572C>T (p.Ser524=)
|
rs1019484868
|
0.00001
|
NM_001271.4(CHD2):c.1578G>A (p.Leu526=)
|
rs763466775
|
0.00001
|
NM_001271.4(CHD2):c.159G>A (p.Ser53=)
|
rs552271683
|
0.00001
|
NM_001271.4(CHD2):c.1668A>G (p.Ala556=)
|
rs1060504937
|
0.00001
|
NM_001271.4(CHD2):c.174A>G (p.Glu58=)
|
rs1168929886
|
0.00001
|
NM_001271.4(CHD2):c.1764G>A (p.Lys588=)
|
rs139263117
|
0.00001
|
NM_001271.4(CHD2):c.1770C>T (p.Asn590=)
|
rs149947056
|
0.00001
|
NM_001271.4(CHD2):c.1810-11T>C
|
rs759545889
|
0.00001
|
NM_001271.4(CHD2):c.189G>T (p.Gln63His)
|
rs568998233
|
0.00001
|
NM_001271.4(CHD2):c.1914C>T (p.Ser638=)
|
rs1304257967
|
0.00001
|
NM_001271.4(CHD2):c.1968C>T (p.Leu656=)
|
rs1159091696
|
0.00001
|
NM_001271.4(CHD2):c.2037G>A (p.Gly679=)
|
rs1441816340
|
0.00001
|
NM_001271.4(CHD2):c.2098A>C (p.Arg700=)
|
rs776453537
|
0.00001
|
NM_001271.4(CHD2):c.219C>G (p.Ser73=)
|
rs140718403
|
0.00001
|
NM_001271.4(CHD2):c.2231C>T (p.Thr744Ile)
|
rs1359060187
|
0.00001
|
NM_001271.4(CHD2):c.2350C>T (p.Leu784=)
|
rs2053846480
|
0.00001
|
NM_001271.4(CHD2):c.249A>G (p.Lys83=)
|
rs990673547
|
0.00001
|
NM_001271.4(CHD2):c.24C>T (p.Ser8=)
|
rs1251726951
|
0.00001
|
NM_001271.4(CHD2):c.2505+19T>C
|
rs1057521420
|
0.00001
|
NM_001271.4(CHD2):c.2506-13T>C
|
rs751543942
|
0.00001
|
NM_001271.4(CHD2):c.2553C>T (p.Asp851=)
|
rs2053887874
|
0.00001
|
NM_001271.4(CHD2):c.2577+12A>C
|
rs769088995
|
0.00001
|
NM_001271.4(CHD2):c.2634A>G (p.Ser878=)
|
rs914239234
|
0.00001
|
NM_001271.4(CHD2):c.2745A>G (p.Leu915=)
|
rs1567150238
|
0.00001
|
NM_001271.4(CHD2):c.2751A>T (p.Thr917=)
|
rs1233513499
|
0.00001
|
NM_001271.4(CHD2):c.2802A>G (p.Val934=)
|
rs544488824
|
0.00001
|
NM_001271.4(CHD2):c.2843G>A (p.Arg948Gln)
|
rs1158357314
|
0.00001
|
NM_001271.4(CHD2):c.2865A>G (p.Ser955=)
|
rs769531663
|
0.00001
|
NM_001271.4(CHD2):c.2901G>A (p.Glu967=)
|
rs755608958
|
0.00001
|
NM_001271.4(CHD2):c.2907A>G (p.Thr969=)
|
rs2053970223
|
0.00001
|
NM_001271.4(CHD2):c.295-17G>A
|
rs757490818
|
0.00001
|
NM_001271.4(CHD2):c.295-18G>C
|
rs747188522
|
0.00001
|
NM_001271.4(CHD2):c.3006T>C (p.Ala1002=)
|
rs186862897
|
0.00001
|
NM_001271.4(CHD2):c.3066+8G>A
|
rs376968734
|
0.00001
|
NM_001271.4(CHD2):c.3067-16G>A
|
rs768858302
|
0.00001
|
NM_001271.4(CHD2):c.3067-6T>C
|
rs901346678
|
0.00001
|
NM_001271.4(CHD2):c.30G>A (p.Glu10=)
|
rs754725429
|
0.00001
|
NM_001271.4(CHD2):c.3177G>A (p.Glu1059=)
|
rs764787401
|
0.00001
|
NM_001271.4(CHD2):c.3180G>A (p.Arg1060=)
|
rs1005206801
|
0.00001
|
NM_001271.4(CHD2):c.3190C>T (p.Leu1064=)
|
rs752339272
|
0.00001
|
NM_001271.4(CHD2):c.3214C>A (p.Arg1072=)
|
rs767106034
|
0.00001
|
NM_001271.4(CHD2):c.3238-13C>T
|
rs368489730
|
0.00001
|
NM_001271.4(CHD2):c.3354G>C (p.Gly1118=)
|
rs747316316
|
0.00001
|
NM_001271.4(CHD2):c.3399T>C (p.Asp1133=)
|
rs972263908
|
0.00001
|
NM_001271.4(CHD2):c.3402A>G (p.Ala1134=)
|
rs1596438065
|
0.00001
|
NM_001271.4(CHD2):c.3444C>T (p.Leu1148=)
|
rs949834349
|
0.00001
|
NM_001271.4(CHD2):c.3455+9A>C
|
rs199958087
|
0.00001
|
NM_001271.4(CHD2):c.3456-16A>G
|
rs375354835
|
0.00001
|
NM_001271.4(CHD2):c.3456-19C>T
|
rs780531827
|
0.00001
|
NM_001271.4(CHD2):c.3456-6C>T
|
rs755464665
|
0.00001
|
NM_001271.4(CHD2):c.3483G>A (p.Glu1161=)
|
rs747595052
|
0.00001
|
NM_001271.4(CHD2):c.3510G>A (p.Leu1170=)
|
rs746728408
|
0.00001
|
NM_001271.4(CHD2):c.3570G>A (p.Glu1190=)
|
rs1304626183
|
0.00001
|
NM_001271.4(CHD2):c.357A>G (p.Pro119=)
|
rs770307318
|
0.00001
|
NM_001271.4(CHD2):c.3591C>T (p.Ser1197=)
|
rs753318183
|
0.00001
|
NM_001271.4(CHD2):c.3595+7G>A
|
rs527839842
|
0.00001
|
NM_001271.4(CHD2):c.3639C>T (p.Ser1213=)
|
rs373621677
|
0.00001
|
NM_001271.4(CHD2):c.3690G>A (p.Glu1230=)
|
rs113077918
|
0.00001
|
NM_001271.4(CHD2):c.3786G>A (p.Gly1262=)
|
rs1440327194
|
0.00001
|
NM_001271.4(CHD2):c.3828T>C (p.His1276=)
|
rs1171704093
|
0.00001
|
NM_001271.4(CHD2):c.3849A>G (p.Leu1283=)
|
rs1356992069
|
0.00001
|
NM_001271.4(CHD2):c.3894G>A (p.Pro1298=)
|
rs754764864
|
0.00001
|
NM_001271.4(CHD2):c.3924G>A (p.Lys1308=)
|
rs745873112
|
0.00001
|
NM_001271.4(CHD2):c.3952T>C (p.Leu1318=)
|
rs376550364
|
0.00001
|
NM_001271.4(CHD2):c.4008+8C>T
|
rs764966782
|
0.00001
|
NM_001271.4(CHD2):c.4009-13T>C
|
rs1161220634
|
0.00001
|
NM_001271.4(CHD2):c.4009G>T (p.Ala1337Ser)
|
rs776072657
|
0.00001
|
NM_001271.4(CHD2):c.4137+17C>T
|
rs761732184
|
0.00001
|
NM_001271.4(CHD2):c.4137+18G>A
|
rs1246012548
|
0.00001
|
NM_001271.4(CHD2):c.4137+9T>G
|
rs774237978
|
0.00001
|
NM_001271.4(CHD2):c.4149G>A (p.Leu1383=)
|
rs752784398
|
0.00001
|
NM_001271.4(CHD2):c.4227A>G (p.Lys1409=)
|
rs917584577
|
0.00001
|
NM_001271.4(CHD2):c.4278+15C>T
|
rs751745833
|
0.00001
|
NM_001271.4(CHD2):c.4278+8T>C
|
rs1340343354
|
0.00001
|
NM_001271.4(CHD2):c.4321T>G (p.Ser1441Ala)
|
rs1006566437
|
0.00001
|
NM_001271.4(CHD2):c.4363C>G (p.Pro1455Ala)
|
rs1184559933
|
0.00001
|
NM_001271.4(CHD2):c.4512C>T (p.Asn1504=)
|
rs750989875
|
0.00001
|
NM_001271.4(CHD2):c.4592+7A>G
|
rs1384519631
|
0.00001
|
NM_001271.4(CHD2):c.4629T>C (p.Phe1543=)
|
rs1488895664
|
0.00001
|
NM_001271.4(CHD2):c.4692+7T>C
|
rs748728212
|
0.00001
|
NM_001271.4(CHD2):c.4713C>T (p.Asp1571=)
|
rs749592290
|
0.00001
|
NM_001271.4(CHD2):c.4791C>T (p.Thr1597=)
|
rs560317096
|
0.00001
|
NM_001271.4(CHD2):c.4815G>A (p.Lys1605=)
|
rs2054437516
|
0.00001
|
NM_001271.4(CHD2):c.4906+20T>C
|
rs753889013
|
0.00001
|
NM_001271.4(CHD2):c.4907-9T>G
|
rs747965948
|
0.00001
|
NM_001271.4(CHD2):c.4976G>A (p.Ser1659Asn)
|
rs748829883
|
0.00001
|
NM_001271.4(CHD2):c.4992G>A (p.Gln1664=)
|
rs1289862557
|
0.00001
|
NM_001271.4(CHD2):c.5019C>T (p.His1673=)
|
rs767814807
|
0.00001
|
NM_001271.4(CHD2):c.5058C>T (p.Ser1686=)
|
rs199851404
|
0.00001
|
NM_001271.4(CHD2):c.5076C>T (p.Asn1692=)
|
rs901529415
|
0.00001
|
NM_001271.4(CHD2):c.5083T>C (p.Ser1695Pro)
|
rs757945055
|
0.00001
|
NM_001271.4(CHD2):c.5100T>C (p.Tyr1700=)
|
rs751251777
|
0.00001
|
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln)
|
rs61759469
|
0.00001
|
NM_001271.4(CHD2):c.5121A>G (p.Arg1707=)
|
rs1429253236
|
0.00001
|
NM_001271.4(CHD2):c.5124C>T (p.Asp1708=)
|
rs768703416
|
0.00001
|
NM_001271.4(CHD2):c.5148T>C (p.Tyr1716=)
|
rs773497328
|
0.00001
|
NM_001271.4(CHD2):c.5184C>T (p.Ser1728=)
|
rs781575273
|
0.00001
|
NM_001271.4(CHD2):c.525A>G (p.Val175=)
|
rs369466744
|
0.00001
|
NM_001271.4(CHD2):c.5310G>A (p.Leu1770=)
|
rs1450537733
|
0.00001
|
NM_001271.4(CHD2):c.5328T>G (p.Pro1776=)
|
rs1243275651
|
0.00001
|
NM_001271.4(CHD2):c.53A>G (p.Asn18Ser)
|
rs1034044226
|
0.00001
|
NM_001271.4(CHD2):c.5437C>T (p.Leu1813=)
|
rs1160530295
|
0.00001
|
NM_001271.4(CHD2):c.543C>A (p.Val181=)
|
rs987898061
|
0.00001
|
NM_001271.4(CHD2):c.5478G>A (p.Arg1826=)
|
rs769748892
|
0.00001
|
NM_001271.4(CHD2):c.551+16A>G
|
rs1298978258
|
0.00001
|
NM_001271.4(CHD2):c.552-7A>G
|
rs374413766
|
0.00001
|
NM_001271.4(CHD2):c.602A>T (p.Lys201Met)
|
rs1369732003
|
0.00001
|
NM_001271.4(CHD2):c.660G>A (p.Arg220=)
|
rs1466513798
|
0.00001
|
NM_001271.4(CHD2):c.677C>T (p.Ala226Val)
|
rs1379301229
|
0.00001
|
NM_001271.4(CHD2):c.687C>T (p.Asn229=)
|
rs752009455
|
0.00001
|
NM_001271.4(CHD2):c.798C>G (p.Val266=)
|
rs1302498638
|
0.00001
|
NM_001271.4(CHD2):c.870C>T (p.Gly290=)
|
rs748380979
|
0.00001
|
NM_001271.4(CHD2):c.918G>A (p.Gln306=)
|
rs373093638
|
0.00001
|
NM_001278293.3(ARL6):c.186-11T>G
|
rs370656150
|
0.00001
|
NM_001278293.3(ARL6):c.254+8C>T
|
rs772021931
|
0.00001
|
NM_001278293.3(ARL6):c.432T>A (p.Ser144=)
|
rs1324293417
|
0.00001
|
NM_001278293.3(ARL6):c.519T>C (p.Gly173=)
|
rs200888923
|
0.00001
|
NM_001278293.3(ARL6):c.63G>A (p.Leu21=)
|
rs369665795
|
0.00001
|
NM_001278293.3(ARL6):c.96G>A (p.Thr32=)
|
rs771538955
|
0.00001
|
NM_001278293.3(ARL6):c.99C>T (p.Ile33=)
|
rs772756275
|
0.00001
|
NM_001352514.2(HLCS):c.1083T>C (p.Cys361=)
|
rs568871363
|
0.00001
|
NM_001352514.2(HLCS):c.1101T>C (p.Ala367=)
|
rs773020648
|
0.00001
|
NM_001352514.2(HLCS):c.1164G>A (p.Gly388=)
|
rs765979436
|
0.00001
|
NM_001352514.2(HLCS):c.1179G>A (p.Leu393=)
|
rs1395979008
|
0.00001
|
NM_001352514.2(HLCS):c.1188C>T (p.Ser396=)
|
rs1188065092
|
0.00001
|
NM_001352514.2(HLCS):c.1227A>C (p.Ala409=)
|
rs776771975
|
0.00001
|
NM_001352514.2(HLCS):c.1242C>G (p.Val414=)
|
rs772203778
|
0.00001
|
NM_001352514.2(HLCS):c.1371G>A (p.Glu457=)
|
rs760694310
|
0.00001
|
NM_001352514.2(HLCS):c.1395T>C (p.His465=)
|
rs2066885260
|
0.00001
|
NM_001352514.2(HLCS):c.1413C>T (p.Arg471=)
|
rs533602689
|
0.00001
|
NM_001352514.2(HLCS):c.1425T>C (p.Ala475=)
|
rs1034237557
|
0.00001
|
NM_001352514.2(HLCS):c.1437+7A>G
|
rs1240794985
|
0.00001
|
NM_001352514.2(HLCS):c.1524C>T (p.Tyr508=)
|
rs772808561
|
0.00001
|
NM_001352514.2(HLCS):c.1596T>G (p.Pro532=)
|
rs201862206
|
0.00001
|
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
|
rs148814769
|
0.00001
|
NM_001352514.2(HLCS):c.1863G>A (p.Val621=)
|
rs762642801
|
0.00001
|
NM_001352514.2(HLCS):c.1893-9C>G
|
rs761781683
|
0.00001
|
NM_001352514.2(HLCS):c.1908A>T (p.Thr636=)
|
rs1369860703
|
0.00001
|
NM_001352514.2(HLCS):c.2034A>G (p.Arg678=)
|
rs945618984
|
0.00001
|
NM_001352514.2(HLCS):c.2058G>A (p.Pro686=)
|
rs556886743
|
0.00001
|
NM_001352514.2(HLCS):c.2208C>T (p.Leu736=)
|
rs764487201
|
0.00001
|
NM_001352514.2(HLCS):c.2346T>C (p.Tyr782=)
|
rs367725468
|
0.00001
|
NM_001352514.2(HLCS):c.2418C>G (p.Val806=)
|
rs759416272
|
0.00001
|
NM_001352514.2(HLCS):c.2463C>A (p.Val821=)
|
rs779439814
|
0.00001
|
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=)
|
rs199936080
|
0.00001
|
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=)
|
rs202028605
|
0.00001
|
NM_001352514.2(HLCS):c.2601C>A (p.Leu867=)
|
rs372467001
|
0.00001
|
NM_001352514.2(HLCS):c.456C>A (p.Leu152=)
|
rs778232930
|
0.00001
|
NM_001352514.2(HLCS):c.498G>A (p.Val166=)
|
rs2066944593
|
0.00001
|
NM_001352514.2(HLCS):c.513C>T (p.Ser171=)
|
rs755797089
|
0.00001
|
NM_001352514.2(HLCS):c.540C>T (p.Val180=)
|
rs574644351
|
0.00001
|
NM_001352514.2(HLCS):c.570G>A (p.Pro190=)
|
rs780666266
|
0.00001
|
NM_001352514.2(HLCS):c.585T>C (p.Ser195=)
|
rs1379810424
|
0.00001
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
NM_001352514.2(HLCS):c.621T>C (p.His207=)
|
rs1323740370
|
0.00001
|
NM_001352514.2(HLCS):c.681C>T (p.Ala227=)
|
rs768745299
|
0.00001
|
NM_001352514.2(HLCS):c.696T>C (p.Pro232=)
|
rs200877859
|
0.00001
|
NM_001352514.2(HLCS):c.723C>A (p.Gly241=)
|
rs886057077
|
0.00001
|
NM_001352514.2(HLCS):c.744C>G (p.Leu248=)
|
rs764416032
|
0.00001
|
NM_001352514.2(HLCS):c.762C>T (p.His254=)
|
rs775946159
|
0.00001
|
NM_001352514.2(HLCS):c.810G>A (p.Ala270=)
|
rs747702795
|
0.00001
|
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=)
|
rs779907293
|
0.00001
|
NM_001352514.2(HLCS):c.861G>A (p.Glu287=)
|
rs1410993144
|
0.00001
|
NM_001352514.2(HLCS):c.969C>T (p.Leu323=)
|
rs1458636068
|
0.00001
|
NM_001352514.2(HLCS):c.981C>T (p.His327=)
|
rs773664058
|
0.00001
|
NM_001352514.2(HLCS):c.996G>A (p.Val332=)
|
rs745472061
|
0.00001
|
NM_001370658.1(BTD):c.-17+7A>C
|
rs1453269936
|
0.00001
|
NM_001370658.1(BTD):c.-22G>A
|
rs781354864
|
0.00001
|
NM_001370658.1(BTD):c.1092C>T (p.Thr364=)
|
rs753278397
|
0.00001
|
NM_001370658.1(BTD):c.1101C>T (p.Asn367=)
|
rs756863026
|
0.00001
|
NM_001370658.1(BTD):c.1161T>C (p.Pro387=)
|
rs749528636
|
0.00001
|
NM_001370658.1(BTD):c.1200T>C (p.Asn400=)
|
rs2065658628
|
0.00001
|
NM_001370658.1(BTD):c.1236C>A (p.Thr412=)
|
rs1575030932
|
0.00001
|
NM_001370658.1(BTD):c.1377G>A (p.Thr459=)
|
rs535292517
|
0.00001
|
NM_001370658.1(BTD):c.1446A>G (p.Ser482=)
|
rs1323842252
|
0.00001
|
NM_001370658.1(BTD):c.1470C>T (p.Asp490=)
|
rs1301007653
|
0.00001
|
NM_001370658.1(BTD):c.249+15C>T
|
rs760435212
|
0.00001
|
NM_001370658.1(BTD):c.255A>C (p.Val85=)
|
rs369304137
|
0.00001
|
NM_001370658.1(BTD):c.600A>G (p.Ala200=)
|
rs757071809
|
0.00001
|
NM_001370658.1(BTD):c.669C>T (p.Phe223=)
|
rs774761127
|
0.00001
|
NM_001370658.1(BTD):c.729G>A (p.Val243=)
|
rs777470168
|
0.00001
|
NM_001370658.1(BTD):c.789G>A (p.Glu263=)
|
rs2065643507
|
0.00001
|
NM_001370658.1(BTD):c.843C>A (p.Val281=)
|
rs1344958210
|
0.00001
|
NM_001482.3(GATM):c.105T>C (p.Thr35=)
|
rs372089316
|
0.00001
|
NM_001482.3(GATM):c.1170C>G (p.Thr390=)
|
rs368737044
|
0.00001
|
NM_001482.3(GATM):c.1197T>C (p.Asn399=)
|
rs1225580016
|
0.00001
|
NM_001482.3(GATM):c.1230C>T (p.Cys410=)
|
rs767575428
|
0.00001
|
NM_001482.3(GATM):c.1257G>A (p.Gln419=)
|
rs774881489
|
0.00001
|
NM_001482.3(GATM):c.138C>T (p.Ser46=)
|
rs1012951622
|
0.00001
|
NM_001482.3(GATM):c.153A>G (p.Ala51=)
|
rs1045318003
|
0.00001
|
NM_001482.3(GATM):c.210C>T (p.Asn70=)
|
rs776673535
|
0.00001
|
NM_001482.3(GATM):c.255C>T (p.Asn85=)
|
rs1057522666
|
0.00001
|
NM_001482.3(GATM):c.294C>T (p.Asn98=)
|
rs1271594468
|
0.00001
|
NM_001482.3(GATM):c.30G>T (p.Gly10=)
|
rs929095379
|
0.00001
|
NM_001482.3(GATM):c.366G>A (p.Lys122=)
|
rs1456477402
|
0.00001
|
NM_001482.3(GATM):c.484+7G>A
|
rs749748325
|
0.00001
|
NM_001482.3(GATM):c.48G>T (p.Ala16=)
|
rs587780951
|
0.00001
|
NM_001482.3(GATM):c.540C>T (p.Ile180=)
|
rs758473036
|
0.00001
|
NM_001482.3(GATM):c.567C>T (p.Arg189=)
|
rs953018412
|
0.00001
|
NM_001482.3(GATM):c.591G>A (p.Arg197=)
|
rs1167013064
|
0.00001
|
NM_001482.3(GATM):c.621C>T (p.Gly207=)
|
rs780300589
|
0.00001
|
NM_001482.3(GATM):c.675+9C>G
|
rs766041671
|
0.00001
|
NM_001482.3(GATM):c.676-14C>A
|
rs748127418
|
0.00001
|
NM_001482.3(GATM):c.813+14G>A
|
rs1889448449
|
0.00001
|
NM_001482.3(GATM):c.814-9T>C
|
rs774614737
|
0.00001
|
NM_001482.3(GATM):c.852T>C (p.His284=)
|
rs1057520287
|
0.00001
|
NM_001482.3(GATM):c.979-14T>C
|
rs775560293
|
0.00001
|
NM_001482.3(GATM):c.9G>A (p.Arg3=)
|
rs1471775361
|
0.00001
|
NM_001609.4(ACADSB):c.1233G>A (p.Thr411=)
|
rs755167353
|
0.00001
|
NM_001609.4(ACADSB):c.219G>A (p.Gln73=)
|
rs756256851
|
0.00001
|
NM_001609.4(ACADSB):c.426G>A (p.Gln142=)
|
rs748754507
|
0.00001
|
NM_001609.4(ACADSB):c.511-6A>G
|
rs773071242
|
0.00001
|
NM_001609.4(ACADSB):c.555A>G (p.Ser185=)
|
rs762414612
|
0.00001
|
NM_001609.4(ACADSB):c.669A>G (p.Val223=)
|
rs750818948
|
0.00001
|
NM_001609.4(ACADSB):c.681+14C>T
|
rs748185849
|
0.00001
|
NM_001698.3(AUH):c.222G>A (p.Glu74=)
|
rs1587943178
|
0.00001
|
NM_001698.3(AUH):c.331-8C>T
|
rs758271092
|
0.00001
|
NM_001698.3(AUH):c.798G>A (p.Ala266=)
|
rs760509061
|
0.00001
|
NM_001698.3(AUH):c.864G>A (p.Val288=)
|
rs199569104
|
0.00001
|
NM_001698.3(AUH):c.894+9C>A
|
rs1388023086
|
0.00001
|
NM_001739.2(CA5A):c.630G>A (p.Ala210=)
|
rs1399915166
|
0.00001
|
NM_001739.2(CA5A):c.726G>A (p.Ser242=)
|
rs562598251
|
0.00001
|
NM_001739.2(CA5A):c.777C>G (p.Leu259=)
|
rs762128732
|
0.00001
|
NM_001875.5(CPS1):c.1029C>T (p.Asn343=)
|
rs747138655
|
0.00001
|
NM_001875.5(CPS1):c.1146G>A (p.Pro382=)
|
rs773257710
|
0.00001
|
NM_001875.5(CPS1):c.1165-4C>T
|
rs768180035
|
0.00001
|
NM_001875.5(CPS1):c.1226T>C (p.Val409Ala)
|
rs370342489
|
0.00001
|
NM_001875.5(CPS1):c.1227C>A (p.Val409=)
|
rs1394034733
|
0.00001
|
NM_001875.5(CPS1):c.1245A>G (p.Leu415=)
|
rs1359323350
|
0.00001
|
NM_001875.5(CPS1):c.1278T>C (p.Leu426=)
|
rs756314968
|
0.00001
|
NM_001875.5(CPS1):c.1284A>C (p.Leu428=)
|
rs1574567824
|
0.00001
|
NM_001875.5(CPS1):c.1332A>G (p.Ser444=)
|
rs773724891
|
0.00001
|
NM_001875.5(CPS1):c.1362A>G (p.Glu454=)
|
rs367595511
|
0.00001
|
NM_001875.5(CPS1):c.1395C>T (p.Asn465=)
|
rs1263470631
|
0.00001
|
NM_001875.5(CPS1):c.1426T>C (p.Leu476=)
|
rs1445507619
|
0.00001
|
NM_001875.5(CPS1):c.1482G>A (p.Glu494=)
|
rs374857825
|
0.00001
|
NM_001875.5(CPS1):c.1488C>T (p.Ile496=)
|
rs1457449273
|
0.00001
|
NM_001875.5(CPS1):c.1558C>T (p.Leu520=)
|
rs1313193730
|
0.00001
|
NM_001875.5(CPS1):c.1578C>T (p.Leu526=)
|
rs763001072
|
0.00001
|
NM_001875.5(CPS1):c.1650T>C (p.Phe550=)
|
rs1354358473
|
0.00001
|
NM_001875.5(CPS1):c.1716T>C (p.Asp572=)
|
rs764231738
|
0.00001
|
NM_001875.5(CPS1):c.1767C>A (p.Ala589=)
|
rs1574577584
|
0.00001
|
NM_001875.5(CPS1):c.1773A>C (p.Ala591=)
|
rs746570258
|
0.00001
|
NM_001875.5(CPS1):c.1860T>C (p.Ile620=)
|
rs767658438
|
0.00001
|
NM_001875.5(CPS1):c.1902T>C (p.Tyr634=)
|
rs763877139
|
0.00001
|
NM_001875.5(CPS1):c.1977C>T (p.His659=)
|
rs774879922
|
0.00001
|
NM_001875.5(CPS1):c.1981+10G>A
|
rs773319112
|
0.00001
|
NM_001875.5(CPS1):c.1982-7T>C
|
rs1213843515
|
0.00001
|
NM_001875.5(CPS1):c.1982-9G>T
|
rs779387910
|
0.00001
|
NM_001875.5(CPS1):c.2061T>C (p.Val687=)
|
rs771497233
|
0.00001
|
NM_001875.5(CPS1):c.2106C>A (p.Ala702=)
|
rs533243282
|
0.00001
|
NM_001875.5(CPS1):c.2155C>T (p.Leu719=)
|
rs753381839
|
0.00001
|
NM_001875.5(CPS1):c.2161C>A (p.Arg721=)
|
rs202107577
|
0.00001
|
NM_001875.5(CPS1):c.2193-10C>A
|
rs767881510
|
0.00001
|
NM_001875.5(CPS1):c.2193-4A>G
|
rs750884552
|
0.00001
|
NM_001875.5(CPS1):c.2205A>G (p.Ala735=)
|
rs749436827
|
0.00001
|
NM_001875.5(CPS1):c.2259C>T (p.Val753=)
|
rs771293294
|
0.00001
|
NM_001875.5(CPS1):c.2322C>G (p.Pro774=)
|
rs1445208216
|
0.00001
|
NM_001875.5(CPS1):c.237-4C>A
|
rs777273892
|
0.00001
|
NM_001875.5(CPS1):c.2385A>G (p.Val795=)
|
rs768164187
|
0.00001
|
NM_001875.5(CPS1):c.2436T>G (p.Ala812=)
|
rs771710751
|
0.00001
|
NM_001875.5(CPS1):c.2454A>G (p.Pro818=)
|
rs765712117
|
0.00001
|
NM_001875.5(CPS1):c.2476C>T (p.Arg826Cys)
|
rs757451824
|
0.00001
|
NM_001875.5(CPS1):c.2502A>G (p.Pro834=)
|
rs1382587498
|
0.00001
|
NM_001875.5(CPS1):c.2547G>A (p.Thr849=)
|
rs371426184
|
0.00001
|
NM_001875.5(CPS1):c.2559C>G (p.Ala853=)
|
rs754665415
|
0.00001
|
NM_001875.5(CPS1):c.2568+8G>A
|
rs765027224
|
0.00001
|
NM_001875.5(CPS1):c.2577T>C (p.Asp859=)
|
rs1439343002
|
0.00001
|
NM_001875.5(CPS1):c.2589C>G (p.Ser863=)
|
rs139626513
|
0.00001
|
NM_001875.5(CPS1):c.2601T>C (p.Ile867=)
|
rs375325824
|
0.00001
|
NM_001875.5(CPS1):c.2652T>C (p.Ile884=)
|
rs372620072
|
0.00001
|
NM_001875.5(CPS1):c.2687+9G>A
|
rs377094467
|
0.00001
|
NM_001875.5(CPS1):c.2727G>A (p.Glu909=)
|
rs1373561767
|
0.00001
|
NM_001875.5(CPS1):c.2769C>T (p.Leu923=)
|
rs1244905393
|
0.00001
|
NM_001875.5(CPS1):c.2771C>G (p.Thr924Ser)
|
rs150463750
|
0.00001
|
NM_001875.5(CPS1):c.2829+7G>A
|
rs759086830
|
0.00001
|
NM_001875.5(CPS1):c.2829+8A>G
|
rs941366546
|
0.00001
|
NM_001875.5(CPS1):c.2830-9C>G
|
rs764400976
|
0.00001
|
NM_001875.5(CPS1):c.3036G>T (p.Val1012=)
|
rs750243323
|
0.00001
|
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=)
|
rs369030433
|
0.00001
|
NM_001875.5(CPS1):c.3204A>G (p.Leu1068=)
|
rs766909251
|
0.00001
|
NM_001875.5(CPS1):c.3282T>C (p.Ala1094=)
|
rs761077723
|
0.00001
|
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=)
|
rs749825961
|
0.00001
|
NM_001875.5(CPS1):c.3303G>A (p.Val1101=)
|
rs774531676
|
0.00001
|
NM_001875.5(CPS1):c.330T>G (p.Thr110=)
|
rs777617670
|
0.00001
|
NM_001875.5(CPS1):c.3405-10C>T
|
rs1700521088
|
0.00001
|
NM_001875.5(CPS1):c.3405-19T>C
|
rs771189677
|
0.00001
|
NM_001875.5(CPS1):c.3483G>A (p.Glu1161=)
|
rs906879658
|
0.00001
|
NM_001875.5(CPS1):c.3555A>C (p.Gly1185=)
|
rs775829352
|
0.00001
|
NM_001875.5(CPS1):c.3558+7G>A
|
rs764456030
|
0.00001
|
NM_001875.5(CPS1):c.3559-9T>C
|
rs760610209
|
0.00001
|
NM_001875.5(CPS1):c.3576C>T (p.Ile1192=)
|
rs1204885910
|
0.00001
|
NM_001875.5(CPS1):c.3630G>A (p.Leu1210=)
|
rs778094703
|
0.00001
|
NM_001875.5(CPS1):c.3666+11A>G
|
rs759823112
|
0.00001
|
NM_001875.5(CPS1):c.3666+7A>G
|
rs776903581
|
0.00001
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
NM_001875.5(CPS1):c.3723C>T (p.Asn1241=)
|
rs760598756
|
0.00001
|
NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr)
|
rs754433289
|
0.00001
|
NM_001875.5(CPS1):c.3753C>T (p.Val1251=)
|
rs758123016
|
0.00001
|
NM_001875.5(CPS1):c.3759G>A (p.Val1253=)
|
rs756701188
|
0.00001
|
NM_001875.5(CPS1):c.3772T>C (p.Leu1258=)
|
rs768630786
|
0.00001
|
NM_001875.5(CPS1):c.3795C>T (p.Pro1265=)
|
rs1438414940
|
0.00001
|
NM_001875.5(CPS1):c.382-10G>A
|
rs938645149
|
0.00001
|
NM_001875.5(CPS1):c.390T>A (p.Gly130=)
|
rs577598098
|
0.00001
|
NM_001875.5(CPS1):c.3950G>A (p.Arg1317Gln)
|
rs369682093
|
0.00001
|
NM_001875.5(CPS1):c.4003-6A>G
|
rs757472109
|
0.00001
|
NM_001875.5(CPS1):c.4059A>C (p.Thr1353=)
|
rs1400368646
|
0.00001
|
NM_001875.5(CPS1):c.4068G>A (p.Lys1356=)
|
rs1425920194
|
0.00001
|
NM_001875.5(CPS1):c.4074C>G (p.Pro1358=)
|
rs759838283
|
0.00001
|
NM_001875.5(CPS1):c.4074C>T (p.Pro1358=)
|
rs759838283
|
0.00001
|
NM_001875.5(CPS1):c.4098C>T (p.Ile1366=)
|
rs757362140
|
0.00001
|
NM_001875.5(CPS1):c.4101+10T>C
|
rs1701173335
|
0.00001
|
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)
|
rs765106604
|
0.00001
|
NM_001875.5(CPS1):c.4134T>G (p.Ala1378=)
|
rs746991241
|
0.00001
|
NM_001875.5(CPS1):c.4155T>C (p.Gly1385=)
|
rs1200099747
|
0.00001
|
NM_001875.5(CPS1):c.4194C>T (p.Leu1398=)
|
rs1300448311
|
0.00001
|
NM_001875.5(CPS1):c.4200C>T (p.Ala1400=)
|
rs150044077
|
0.00001
|
NM_001875.5(CPS1):c.4206T>C (p.Asn1402=)
|
rs1235300832
|
0.00001
|
NM_001875.5(CPS1):c.4233G>A (p.Pro1411=)
|
rs760775513
|
0.00001
|
NM_001875.5(CPS1):c.4300C>T (p.Leu1434=)
|
rs752311782
|
0.00001
|
NM_001875.5(CPS1):c.4350T>C (p.Tyr1450=)
|
rs771831155
|
0.00001
|
NM_001875.5(CPS1):c.4389C>A (p.Leu1463=)
|
rs1433915902
|
0.00001
|
NM_001875.5(CPS1):c.4410C>T (p.Thr1470=)
|
rs138590011
|
0.00001
|
NM_001875.5(CPS1):c.4416T>G (p.Leu1472=)
|
rs1701583781
|
0.00001
|
NM_001875.5(CPS1):c.471+14T>C
|
rs914408029
|
0.00001
|
NM_001875.5(CPS1):c.474T>C (p.Val158=)
|
rs1697846903
|
0.00001
|
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser)
|
rs868808195
|
0.00001
|
NM_001875.5(CPS1):c.529-7T>C
|
rs1386014914
|
0.00001
|
NM_001875.5(CPS1):c.690T>C (p.Asn230=)
|
rs762276786
|
0.00001
|
NM_001875.5(CPS1):c.69G>A (p.Val23=)
|
rs1696927192
|
0.00001
|
NM_001875.5(CPS1):c.711+7A>C
|
rs756703955
|
0.00001
|
NM_001875.5(CPS1):c.712-10T>G
|
rs767866028
|
0.00001
|
NM_001875.5(CPS1):c.726G>A (p.Val242=)
|
rs765377334
|
0.00001
|
NM_001875.5(CPS1):c.765G>A (p.Glu255=)
|
rs748743178
|
0.00001
|
NM_001875.5(CPS1):c.795G>A (p.Pro265=)
|
rs1174421173
|
0.00001
|
NM_001875.5(CPS1):c.831T>C (p.Asn277=)
|
rs1218356698
|
0.00001
|
NM_001875.5(CPS1):c.837A>G (p.Arg279=)
|
rs1211571555
|
0.00001
|
NM_001875.5(CPS1):c.841-7G>A
|
rs754897201
|
0.00001
|
NM_001875.5(CPS1):c.867A>G (p.Pro289=)
|
rs1441290967
|
0.00001
|
NM_001875.5(CPS1):c.996T>C (p.Ile332=)
|
rs754231161
|
0.00001
|
NM_001876.4(CPT1A):c.105A>G (p.Gly35=)
|
rs1566377603
|
0.00001
|
NM_001876.4(CPT1A):c.1110C>T (p.Thr370=)
|
rs768865335
|
0.00001
|
NM_001876.4(CPT1A):c.1113G>A (p.Ser371=)
|
rs756237590
|
0.00001
|
NM_001876.4(CPT1A):c.1320C>T (p.Ala440=)
|
rs773343849
|
0.00001
|
NM_001876.4(CPT1A):c.1347C>T (p.Tyr449=)
|
rs769751060
|
0.00001
|
NM_001876.4(CPT1A):c.1353-17_1353-16del
|
rs757335881
|
0.00001
|
NM_001876.4(CPT1A):c.1353-5C>T
|
rs770478804
|
0.00001
|
NM_001876.4(CPT1A):c.1368G>A (p.Ser456=)
|
rs563338783
|
0.00001
|
NM_001876.4(CPT1A):c.1374G>A (p.Thr458=)
|
rs766448516
|
0.00001
|
NM_001876.4(CPT1A):c.1500G>A (p.Glu500=)
|
rs760474415
|
0.00001
|
NM_001876.4(CPT1A):c.1575+9G>A
|
rs767365466
|
0.00001
|
NM_001876.4(CPT1A):c.1608C>T (p.Thr536=)
|
rs756997593
|
0.00001
|
NM_001876.4(CPT1A):c.1686T>C (p.Cys562=)
|
rs771593510
|
0.00001
|
NM_001876.4(CPT1A):c.1692G>A (p.Thr564=)
|
rs1159341156
|
0.00001
|
NM_001876.4(CPT1A):c.1741-4C>G
|
rs1249777003
|
0.00001
|
NM_001876.4(CPT1A):c.1767C>T (p.Tyr589=)
|
rs762044597
|
0.00001
|
NM_001876.4(CPT1A):c.1806G>A (p.Thr602=)
|
rs866075317
|
0.00001
|
NM_001876.4(CPT1A):c.1812C>T (p.Thr604=)
|
rs772047118
|
0.00001
|
NM_001876.4(CPT1A):c.1854C>A (p.Ala618=)
|
rs1380885875
|
0.00001
|
NM_001876.4(CPT1A):c.1866G>A (p.Pro622=)
|
rs771886992
|
0.00001
|
NM_001876.4(CPT1A):c.1947C>T (p.Thr649=)
|
rs766536084
|
0.00001
|
NM_001876.4(CPT1A):c.2001C>T (p.Leu667=)
|
rs370172029
|
0.00001
|
NM_001876.4(CPT1A):c.2142+11C>T
|
rs1192871538
|
0.00001
|
NM_001876.4(CPT1A):c.2169G>A (p.Ser723=)
|
rs761120296
|
0.00001
|
NM_001876.4(CPT1A):c.216G>A (p.Thr72=)
|
rs759964195
|
0.00001
|
NM_001876.4(CPT1A):c.222C>T (p.Tyr74=)
|
rs398123654
|
0.00001
|
NM_001876.4(CPT1A):c.2259C>T (p.His753=)
|
rs752442128
|
0.00001
|
NM_001876.4(CPT1A):c.2283C>T (p.Ile761=)
|
rs761306389
|
0.00001
|
NM_001876.4(CPT1A):c.231C>T (p.Ile77=)
|
rs1856241635
|
0.00001
|
NM_001876.4(CPT1A):c.399C>T (p.His133=)
|
rs753243767
|
0.00001
|
NM_001876.4(CPT1A):c.477C>A (p.Gly159=)
|
rs895684720
|
0.00001
|
NM_001876.4(CPT1A):c.495C>T (p.Tyr165=)
|
rs139789100
|
0.00001
|
NM_001876.4(CPT1A):c.504G>A (p.Gln168=)
|
rs755282175
|
0.00001
|
NM_001876.4(CPT1A):c.510G>A (p.Ser170=)
|
rs766492086
|
0.00001
|
NM_001876.4(CPT1A):c.519C>A (p.Arg173=)
|
rs1462501450
|
0.00001
|
NM_001876.4(CPT1A):c.588A>G (p.Glu196=)
|
rs772625735
|
0.00001
|
NM_001876.4(CPT1A):c.675C>T (p.Ser225=)
|
rs866295650
|
0.00001
|
NM_001876.4(CPT1A):c.694-9G>A
|
rs771162679
|
0.00001
|
NM_001876.4(CPT1A):c.699C>T (p.Ser233=)
|
rs777831837
|
0.00001
|
NM_001876.4(CPT1A):c.744C>T (p.Leu248=)
|
rs763514947
|
0.00001
|
NM_001876.4(CPT1A):c.771+16C>T
|
rs1323194775
|
0.00001
|
NM_001876.4(CPT1A):c.771+18G>T
|
rs1016553533
|
0.00001
|
NM_001876.4(CPT1A):c.789T>C (p.Leu263=)
|
rs1273057192
|
0.00001
|
NM_001876.4(CPT1A):c.816C>T (p.Ala272=)
|
rs368042078
|
0.00001
|
NM_001876.4(CPT1A):c.822C>T (p.Asn274=)
|
rs774440104
|
0.00001
|
NM_001876.4(CPT1A):c.847A>C (p.Arg283=)
|
rs1173914550
|
0.00001
|
NM_001876.4(CPT1A):c.912C>T (p.Cys304=)
|
rs80356789
|
0.00001
|
NM_001876.4(CPT1A):c.945C>G (p.Ser315=)
|
rs1013648059
|
0.00001
|
NM_001876.4(CPT1A):c.967+11C>G
|
rs201996551
|
0.00001
|
NM_001876.4(CPT1A):c.968-4T>C
|
rs1186244631
|
0.00001
|
NM_001876.4(CPT1A):c.990C>T (p.Asp330=)
|
rs762563555
|
0.00001
|
NM_001918.5(DBT):c.1017+8A>G
|
rs541924732
|
0.00001
|
NM_001918.5(DBT):c.1018-10T>A
|
rs1328647470
|
0.00001
|
NM_001918.5(DBT):c.1110C>T (p.Ile370=)
|
rs771962372
|
0.00001
|
NM_001918.5(DBT):c.1138T>C (p.Leu380=)
|
rs756606257
|
0.00001
|
NM_001918.5(DBT):c.1158C>T (p.Leu386=)
|
rs139943180
|
0.00001
|
NM_001918.5(DBT):c.1173T>G (p.Leu391=)
|
rs763246178
|
0.00001
|
NM_001918.5(DBT):c.1210-18_1210-9del
|
rs780660910
|
0.00001
|
NM_001918.5(DBT):c.1320G>A (p.Lys440=)
|
rs1243840387
|
0.00001
|
NM_001918.5(DBT):c.1350T>G (p.Ala450=)
|
rs149959750
|
0.00001
|
NM_001918.5(DBT):c.1371T>C (p.Gly457=)
|
rs1188716932
|
0.00001
|
NM_001918.5(DBT):c.1392C>T (p.Ser464=)
|
rs765967170
|
0.00001
|
NM_001918.5(DBT):c.176-4G>A
|
rs769021966
|
0.00001
|
NM_001918.5(DBT):c.198G>A (p.Gln66=)
|
rs201714436
|
0.00001
|
NM_001918.5(DBT):c.231A>G (p.Arg77=)
|
rs1028461413
|
0.00001
|
NM_001918.5(DBT):c.270T>C (p.Asp90=)
|
rs913574975
|
0.00001
|
NM_001918.5(DBT):c.378C>T (p.Asp126=)
|
rs1410915223
|
0.00001
|
NM_001918.5(DBT):c.387C>T (p.Ala129=)
|
rs200503541
|
0.00001
|
NM_001918.5(DBT):c.420G>A (p.Thr140=)
|
rs771792232
|
0.00001
|
NM_001918.5(DBT):c.42G>A (p.Ala14=)
|
rs758610837
|
0.00001
|
NM_001918.5(DBT):c.495G>A (p.Glu165=)
|
rs1481747202
|
0.00001
|
NM_001918.5(DBT):c.52-5del
|
rs1234151678
|
0.00001
|
NM_001918.5(DBT):c.624T>C (p.Tyr208=)
|
rs752504160
|
0.00001
|
NM_001918.5(DBT):c.765C>T (p.Pro255=)
|
rs767126022
|
0.00001
|
NM_001918.5(DBT):c.772+7A>T
|
rs904010521
|
0.00001
|
NM_001918.5(DBT):c.837T>C (p.Cys279=)
|
rs1662392437
|
0.00001
|
NM_001918.5(DBT):c.939+9C>T
|
rs779947502
|
0.00001
|
NM_001958.5(EEF1A2):c.1029+9C>T
|
rs2082373589
|
0.00001
|
NM_001958.5(EEF1A2):c.1030-5C>T
|
rs1428414395
|
0.00001
|
NM_001958.5(EEF1A2):c.1065C>T (p.Ala355=)
|
rs998259316
|
0.00001
|
NM_001958.5(EEF1A2):c.1104C>T (p.Ile368=)
|
rs965429825
|
0.00001
|
NM_001958.5(EEF1A2):c.120G>A (p.Glu40=)
|
rs897078195
|
0.00001
|
NM_001958.5(EEF1A2):c.1264+8G>A
|
rs940966378
|
0.00001
|
NM_001958.5(EEF1A2):c.1265-4C>A
|
rs562688898
|
0.00001
|
NM_001958.5(EEF1A2):c.1265-9G>T
|
rs2082362753
|
0.00001
|
NM_001958.5(EEF1A2):c.126C>T (p.Phe42=)
|
rs746596211
|
0.00001
|
NM_001958.5(EEF1A2):c.1338C>T (p.Gly446=)
|
rs779261770
|
0.00001
|
NM_001958.5(EEF1A2):c.138G>A (p.Ala46=)
|
rs1212477042
|
0.00001
|
NM_001958.5(EEF1A2):c.145-7G>T
|
rs536472004
|
0.00001
|
NM_001958.5(EEF1A2):c.240C>T (p.Phe80=)
|
rs777444750
|
0.00001
|
NM_001958.5(EEF1A2):c.325-7C>T
|
rs760916766
|
0.00001
|
NM_001958.5(EEF1A2):c.325-8C>T
|
rs769119480
|
0.00001
|
NM_001958.5(EEF1A2):c.363C>T (p.Gly121=)
|
rs746290505
|
0.00001
|
NM_001958.5(EEF1A2):c.387G>A (p.Lys129=)
|
rs754118857
|
0.00001
|
NM_001958.5(EEF1A2):c.412C>T (p.Leu138=)
|
rs900745409
|
0.00001
|
NM_001958.5(EEF1A2):c.426G>A (p.Thr142=)
|
rs751391189
|
0.00001
|
NM_001958.5(EEF1A2):c.447C>T (p.Ile149=)
|
rs772964838
|
0.00001
|
NM_001958.5(EEF1A2):c.459C>T (p.Asn153=)
|
rs761190222
|
0.00001
|
NM_001958.5(EEF1A2):c.45C>T (p.His15=)
|
rs546748631
|
0.00001
|
NM_001958.5(EEF1A2):c.489C>T (p.Ser163=)
|
rs138632721
|
0.00001
|
NM_001958.5(EEF1A2):c.501C>T (p.Tyr167=)
|
rs773761730
|
0.00001
|
NM_001958.5(EEF1A2):c.510C>T (p.Ile170=)
|
rs1425598851
|
0.00001
|
NM_001958.5(EEF1A2):c.621+19G>A
|
rs982607125
|
0.00001
|
NM_001958.5(EEF1A2):c.622-4C>G
|
rs1313830443
|
0.00001
|
NM_001958.5(EEF1A2):c.626C>T (p.Pro209Leu)
|
rs768753735
|
0.00001
|
NM_001958.5(EEF1A2):c.638G>T (p.Gly213Val)
|
rs1390638586
|
0.00001
|
NM_001958.5(EEF1A2):c.666C>T (p.Asn222=)
|
rs1023284810
|
0.00001
|
NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr)
|
rs778585590
|
0.00001
|
NM_001958.5(EEF1A2):c.693C>T (p.Ala231=)
|
rs888357801
|
0.00001
|
NM_001958.5(EEF1A2):c.759G>T (p.Val253=)
|
rs372796244
|
0.00001
|
NM_001958.5(EEF1A2):c.792G>C (p.Val264=)
|
rs777241260
|
0.00001
|
NM_001958.5(EEF1A2):c.842C>T (p.Ala281Val)
|
rs1166766963
|
0.00001
|
NM_001958.5(EEF1A2):c.873A>G (p.Ser291=)
|
rs772266559
|
0.00001
|
NM_001958.5(EEF1A2):c.876G>A (p.Val292=)
|
rs112732285
|
0.00001
|
NM_001958.5(EEF1A2):c.888C>T (p.His296=)
|
rs762804574
|
0.00001
|
NM_001958.5(EEF1A2):c.895C>T (p.Leu299=)
|
rs1309447992
|
0.00001
|
NM_001958.5(EEF1A2):c.900C>T (p.Ser300=)
|
rs374349515
|
0.00001
|
NM_001958.5(EEF1A2):c.915C>T (p.Gly305=)
|
rs377239518
|
0.00001
|
NM_001958.5(EEF1A2):c.942C>T (p.Asn314=)
|
rs758126231
|
0.00001
|
NM_001958.5(EEF1A2):c.948G>A (p.Ser316=)
|
rs750037526
|
0.00001
|
NM_001958.5(EEF1A2):c.954G>A (p.Lys318=)
|
rs1203123076
|
0.00001
|
NM_001985.3(ETFB):c.151C>A (p.Arg51=)
|
rs1308673942
|
0.00001
|
NM_001985.3(ETFB):c.189C>T (p.Ala63=)
|
rs267605609
|
0.00001
|
NM_001985.3(ETFB):c.439-14C>T
|
rs756770328
|
0.00001
|
NM_001985.3(ETFB):c.57+16del
|
rs529887209
|
0.00001
|
NM_001985.3(ETFB):c.597+8C>T
|
rs758639864
|
0.00001
|
NM_001985.3(ETFB):c.598-14C>T
|
rs750381743
|
0.00001
|
NM_001985.3(ETFB):c.90C>A (p.Val30=)
|
rs1986016385
|
0.00001
|
NM_002150.3(HPD):c.156C>T (p.Thr52=)
|
rs776140021
|
0.00001
|
NM_002150.3(HPD):c.273C>T (p.Asp91=)
|
rs777153098
|
0.00001
|
NM_002150.3(HPD):c.765T>C (p.Tyr255=)
|
rs767720774
|
0.00001
|
NM_002150.3(HPD):c.832-11C>T
|
rs1877487606
|
0.00001
|
NM_002225.5(IVD):c.1014G>A (p.Gln338=)
|
rs1891648588
|
0.00001
|
NM_002225.5(IVD):c.1026T>C (p.Asn342=)
|
rs1401482066
|
0.00001
|
NM_002225.5(IVD):c.1053T>C (p.His351=)
|
rs763091729
|
0.00001
|
NM_002225.5(IVD):c.1146T>C (p.Asn382=)
|
rs1419468231
|
0.00001
|
NM_002225.5(IVD):c.1185A>G (p.Arg395=)
|
rs375709475
|
0.00001
|
NM_002225.5(IVD):c.123G>C (p.Gly41=)
|
rs139179135
|
0.00001
|
NM_002225.5(IVD):c.145-5A>G
|
rs746358275
|
0.00001
|
NM_002225.5(IVD):c.150T>A (p.Arg50=)
|
rs762440985
|
0.00001
|
NM_002225.5(IVD):c.204C>T (p.Ile68=)
|
rs780579571
|
0.00001
|
NM_002225.5(IVD):c.235-8G>A
|
rs1035492488
|
0.00001
|
NM_002225.5(IVD):c.252G>A (p.Leu84=)
|
rs756466515
|
0.00001
|
NM_002225.5(IVD):c.27G>T (p.Gly9=)
|
rs760413553
|
0.00001
|
NM_002225.5(IVD):c.297C>T (p.Gly99=)
|
rs377129112
|
0.00001
|
NM_002225.5(IVD):c.330G>A (p.Leu110=)
|
rs746017260
|
0.00001
|
NM_002225.5(IVD):c.372C>T (p.Leu124=)
|
rs964820890
|
0.00001
|
NM_002225.5(IVD):c.453G>A (p.Pro151=)
|
rs535261722
|
0.00001
|
NM_002225.5(IVD):c.457-9T>C
|
rs1418302146
|
0.00001
|
NM_002225.5(IVD):c.474C>T (p.Tyr158=)
|
rs1033930341
|
0.00001
|
NM_002225.5(IVD):c.477C>T (p.Ile159=)
|
rs758187120
|
0.00001
|
NM_002225.5(IVD):c.486G>A (p.Leu162=)
|
rs755094829
|
0.00001
|
NM_002225.5(IVD):c.57G>A (p.Pro19=)
|
rs1277276427
|
0.00001
|
NM_002225.5(IVD):c.666C>T (p.Ile222=)
|
rs772662373
|
0.00001
|
NM_002225.5(IVD):c.675C>T (p.Phe225=)
|
rs749242305
|
0.00001
|
NM_002225.5(IVD):c.690T>C (p.Gly230=)
|
rs1182189552
|
0.00001
|
NM_002225.5(IVD):c.759A>T (p.Leu253=)
|
rs1237759561
|
0.00001
|
NM_002225.5(IVD):c.784+12C>T
|
rs572858305
|
0.00001
|
NM_002225.5(IVD):c.784+9C>T
|
rs1891254953
|
0.00001
|
NM_002225.5(IVD):c.785-4G>A
|
rs369133260
|
0.00001
|
NM_002225.5(IVD):c.798G>C (p.Leu266=)
|
rs1263112437
|
0.00001
|
NM_002225.5(IVD):c.81G>A (p.Gln27=)
|
rs898534021
|
0.00001
|
NM_002225.5(IVD):c.822C>T (p.Tyr274=)
|
rs375580399
|
0.00001
|
NM_002225.5(IVD):c.864C>T (p.Ala288=)
|
rs1566939786
|
0.00001
|
NM_002225.5(IVD):c.948C>T (p.Ile316=)
|
rs754100750
|
0.00001
|
NM_002225.5(IVD):c.960+7C>T
|
rs113361784
|
0.00001
|
NM_002225.5(IVD):c.972G>A (p.Gly324=)
|
rs748522492
|
0.00001
|
NM_002454.3(MTRR):c.1041A>G (p.Ala347=)
|
rs1331838959
|
0.00001
|
NM_002454.3(MTRR):c.1057+7G>T
|
rs767794040
|
0.00001
|
NM_002454.3(MTRR):c.1086G>A (p.Ala362=)
|
rs750381895
|
0.00001
|
NM_002454.3(MTRR):c.1131A>C (p.Arg377=)
|
rs1050662553
|
0.00001
|
NM_002454.3(MTRR):c.1147-6T>C
|
rs781413511
|
0.00001
|
NM_002454.3(MTRR):c.1147-8T>C
|
rs961118885
|
0.00001
|
NM_002454.3(MTRR):c.1149A>G (p.Ala383=)
|
rs748418818
|
0.00001
|
NM_002454.3(MTRR):c.1179T>C (p.Ser393=)
|
rs1333791112
|
0.00001
|
NM_002454.3(MTRR):c.1227G>A (p.Gly409=)
|
rs1250182164
|
0.00001
|
NM_002454.3(MTRR):c.1239T>C (p.Tyr413=)
|
rs755507944
|
0.00001
|
NM_002454.3(MTRR):c.123C>T (p.Ser41=)
|
rs759379396
|
0.00001
|
NM_002454.3(MTRR):c.1257T>C (p.Asp419=)
|
rs1292824472
|
0.00001
|
NM_002454.3(MTRR):c.1266C>T (p.Ala422=)
|
rs981600908
|
0.00001
|
NM_002454.3(MTRR):c.130-12C>G
|
rs764724859
|
0.00001
|
NM_002454.3(MTRR):c.1311A>G (p.Pro437=)
|
rs755561250
|
0.00001
|
NM_002454.3(MTRR):c.1371-10A>G
|
rs368498814
|
0.00001
|
NM_002454.3(MTRR):c.13C>T (p.Leu5=)
|
rs763313419
|
0.00001
|
NM_002454.3(MTRR):c.1443A>G (p.Thr481=)
|
rs1359474445
|
0.00001
|
NM_002454.3(MTRR):c.1527T>C (p.His509=)
|
rs1483514424
|
0.00001
|
NM_002454.3(MTRR):c.1533C>T (p.Asp511=)
|
rs1269324233
|
0.00001
|
NM_002454.3(MTRR):c.1546C>T (p.Leu516=)
|
rs1268958481
|
0.00001
|
NM_002454.3(MTRR):c.1593C>T (p.His531=)
|
rs778082216
|
0.00001
|
NM_002454.3(MTRR):c.1602T>C (p.Asp534=)
|
rs1738404887
|
0.00001
|
NM_002454.3(MTRR):c.1666C>T (p.Leu556=)
|
rs762466500
|
0.00001
|
NM_002454.3(MTRR):c.1676+10T>C
|
rs757713803
|
0.00001
|
NM_002454.3(MTRR):c.1677-6A>G
|
rs780299669
|
0.00001
|
NM_002454.3(MTRR):c.1764A>G (p.Leu588=)
|
rs766927577
|
0.00001
|
NM_002454.3(MTRR):c.1769+8A>G
|
rs892239997
|
0.00001
|
NM_002454.3(MTRR):c.1791T>C (p.Leu597=)
|
rs767659059
|
0.00001
|
NM_002454.3(MTRR):c.1857A>G (p.Glu619=)
|
rs1416687292
|
0.00001
|
NM_002454.3(MTRR):c.1869G>A (p.Lys623=)
|
rs768364684
|
0.00001
|
NM_002454.3(MTRR):c.1890G>A (p.Gln630=)
|
rs9282786
|
0.00001
|
NM_002454.3(MTRR):c.1917C>A (p.Ile639=)
|
rs778699591
|
0.00001
|
NM_002454.3(MTRR):c.1952+14G>A
|
rs557018438
|
0.00001
|
NM_002454.3(MTRR):c.1992T>C (p.Leu664=)
|
rs375588388
|
0.00001
|
NM_002454.3(MTRR):c.2031A>G (p.Leu677=)
|
rs367590648
|
0.00001
|
NM_002454.3(MTRR):c.2052C>T (p.Ala684=)
|
rs1427160228
|
0.00001
|
NM_002454.3(MTRR):c.2076C>T (p.Tyr692=)
|
rs984089159
|
0.00001
|
NM_002454.3(MTRR):c.303C>T (p.Tyr101=)
|
rs1748681766
|
0.00001
|
NM_002454.3(MTRR):c.378T>C (p.Thr126=)
|
rs577851734
|
0.00001
|
NM_002454.3(MTRR):c.399A>G (p.Val133=)
|
rs560392566
|
0.00001
|
NM_002454.3(MTRR):c.39A>G (p.Gly13=)
|
rs752509731
|
0.00001
|
NM_002454.3(MTRR):c.401+10G>A
|
rs760026002
|
0.00001
|
NM_002454.3(MTRR):c.401+9A>G
|
rs376866907
|
0.00001
|
NM_002454.3(MTRR):c.423G>A (p.Pro141=)
|
rs753947379
|
0.00001
|
NM_002454.3(MTRR):c.432T>G (p.Ala144=)
|
rs116439533
|
0.00001
|
NM_002454.3(MTRR):c.477A>G (p.Gly159=)
|
rs1270504511
|
0.00001
|
NM_002454.3(MTRR):c.498A>G (p.Ala166=)
|
rs747865209
|
0.00001
|
NM_002454.3(MTRR):c.504G>A (p.Pro168=)
|
rs746183496
|
0.00001
|
NM_002454.3(MTRR):c.588C>T (p.Phe196=)
|
rs776897289
|
0.00001
|
NM_002454.3(MTRR):c.594T>C (p.Asp198=)
|
rs773514527
|
0.00001
|
NM_002454.3(MTRR):c.612T>C (p.Ser204=)
|
rs374670570
|
0.00001
|
NM_002454.3(MTRR):c.708A>G (p.Ser236=)
|
rs372700667
|
0.00001
|
NM_002454.3(MTRR):c.744A>G (p.Glu248=)
|
rs749341418
|
0.00001
|
NM_002454.3(MTRR):c.807A>G (p.Ser269=)
|
rs1348478237
|
0.00001
|
NM_002454.3(MTRR):c.84A>G (p.Val28=)
|
rs1045121482
|
0.00001
|
NM_002454.3(MTRR):c.903+19T>A
|
rs930028739
|
0.00001
|
NM_002454.3(MTRR):c.904-10del
|
rs1467919139
|
0.00001
|
NM_002454.3(MTRR):c.936C>T (p.Ala312=)
|
rs777075473
|
0.00001
|
NM_002454.3(MTRR):c.942C>T (p.Ser314=)
|
rs770336060
|
0.00001
|
NM_002860.4(ALDH18A1):c.1041G>A (p.Lys347=)
|
rs2097862079
|
0.00001
|
NM_002860.4(ALDH18A1):c.1247-19C>G
|
rs772575442
|
0.00001
|
NM_002860.4(ALDH18A1):c.1320G>A (p.Leu440=)
|
rs537092003
|
0.00001
|
NM_002860.4(ALDH18A1):c.1335C>T (p.Ala445=)
|
rs771965130
|
0.00001
|
NM_002860.4(ALDH18A1):c.1635T>C (p.Leu545=)
|
rs368774840
|
0.00001
|
NM_002860.4(ALDH18A1):c.2034G>A (p.Val678=)
|
rs1328125928
|
0.00001
|
NM_002860.4(ALDH18A1):c.306A>G (p.Val102=)
|
rs773545430
|
0.00001
|
NM_002860.4(ALDH18A1):c.378C>T (p.Arg126=)
|
rs773835343
|
0.00001
|
NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)
|
rs201428777
|
0.00001
|
NM_002860.4(ALDH18A1):c.559-19A>G
|
rs776600555
|
0.00001
|
NM_002860.4(ALDH18A1):c.75C>T (p.Thr25=)
|
rs759465204
|
0.00001
|
NM_002860.4(ALDH18A1):c.809-12T>C
|
rs777274822
|
0.00001
|
NM_002860.4(ALDH18A1):c.934-7T>A
|
rs772389382
|
0.00001
|
NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=)
|
rs751578810
|
0.00001
|
NM_003042.4(SLC6A1):c.1056C>G (p.Ser352=)
|
rs767184689
|
0.00001
|
NM_003042.4(SLC6A1):c.1065T>C (p.Asp355=)
|
rs967912210
|
0.00001
|
NM_003042.4(SLC6A1):c.1083C>T (p.Pro361=)
|
rs768964697
|
0.00001
|
NM_003042.4(SLC6A1):c.1096C>T (p.Leu366=)
|
rs1410013974
|
0.00001
|
NM_003042.4(SLC6A1):c.1137A>G (p.Pro379=)
|
rs774667916
|
0.00001
|
NM_003042.4(SLC6A1):c.114G>A (p.Ala38=)
|
rs139224269
|
0.00001
|
NM_003042.4(SLC6A1):c.1191+7G>A
|
rs753558292
|
0.00001
|
NM_003042.4(SLC6A1):c.1249C>T (p.Arg417Cys)
|
rs774371133
|
0.00001
|
NM_003042.4(SLC6A1):c.12C>T (p.Asn4=)
|
rs978516736
|
0.00001
|
NM_003042.4(SLC6A1):c.1323+17C>G
|
rs1697783020
|
0.00001
|
NM_003042.4(SLC6A1):c.1324-14T>A
|
rs1228458713
|
0.00001
|
NM_003042.4(SLC6A1):c.1324-9A>G
|
rs758526997
|
0.00001
|
NM_003042.4(SLC6A1):c.1383G>C (p.Leu461=)
|
rs1160002015
|
0.00001
|
NM_003042.4(SLC6A1):c.1426+13C>G
|
rs776382632
|
0.00001
|
NM_003042.4(SLC6A1):c.1426+7A>G
|
rs1697896460
|
0.00001
|
NM_003042.4(SLC6A1):c.1527+11G>A
|
rs1006629615
|
0.00001
|
NM_003042.4(SLC6A1):c.1528-5T>C
|
rs748037660
|
0.00001
|
NM_003042.4(SLC6A1):c.1560G>A (p.Thr520=)
|
rs780977371
|
0.00001
|
NM_003042.4(SLC6A1):c.1624C>T (p.Leu542=)
|
rs746102316
|
0.00001
|
NM_003042.4(SLC6A1):c.1683C>T (p.Gly561=)
|
rs777068422
|
0.00001
|
NM_003042.4(SLC6A1):c.1696-7C>T
|
rs770154222
|
0.00001
|
NM_003042.4(SLC6A1):c.1767G>A (p.Ala589=)
|
rs748298652
|
0.00001
|
NM_003042.4(SLC6A1):c.1785G>A (p.Lys595=)
|
rs536318043
|
0.00001
|
NM_003042.4(SLC6A1):c.1791C>G (p.Ala597=)
|
rs202231185
|
0.00001
|
NM_003042.4(SLC6A1):c.186C>T (p.Ile62=)
|
rs1465313059
|
0.00001
|
NM_003042.4(SLC6A1):c.222C>T (p.Cys74=)
|
rs139045747
|
0.00001
|
NM_003042.4(SLC6A1):c.239-13T>C
|
rs763764950
|
0.00001
|
NM_003042.4(SLC6A1):c.271A>G (p.Ile91Val)
|
rs758250115
|
0.00001
|
NM_003042.4(SLC6A1):c.291C>A (p.Leu97=)
|
rs1424265759
|
0.00001
|
NM_003042.4(SLC6A1):c.333G>A (p.Gly111=)
|
rs749594860
|
0.00001
|
NM_003042.4(SLC6A1):c.351G>A (p.Lys117=)
|
rs148698856
|
0.00001
|
NM_003042.4(SLC6A1):c.371-5C>T
|
rs1297168513
|
0.00001
|
NM_003042.4(SLC6A1):c.371-8G>A
|
rs774167411
|
0.00001
|
NM_003042.4(SLC6A1):c.396A>G (p.Leu132=)
|
rs754242081
|
0.00001
|
NM_003042.4(SLC6A1):c.453G>A (p.Leu151=)
|
rs1697264815
|
0.00001
|
NM_003042.4(SLC6A1):c.471G>A (p.Thr157=)
|
rs780692463
|
0.00001
|
NM_003042.4(SLC6A1):c.474A>C (p.Thr158=)
|
rs780468448
|
0.00001
|
NM_003042.4(SLC6A1):c.546T>G (p.Thr182=)
|
rs760766783
|
0.00001
|
NM_003042.4(SLC6A1):c.583C>T (p.Arg195Cys)
|
rs769934894
|
0.00001
|
NM_003042.4(SLC6A1):c.585C>T (p.Arg195=)
|
rs978823137
|
0.00001
|
NM_003042.4(SLC6A1):c.603G>A (p.Thr201=)
|
rs762985616
|
0.00001
|
NM_003042.4(SLC6A1):c.72T>C (p.Asn24=)
|
rs774478277
|
0.00001
|
NM_003042.4(SLC6A1):c.798G>A (p.Glu266=)
|
rs1211147356
|
0.00001
|
NM_003042.4(SLC6A1):c.828C>T (p.Phe276=)
|
rs1176975543
|
0.00001
|
NM_003042.4(SLC6A1):c.850-18T>C
|
rs760273801
|
0.00001
|
NM_003042.4(SLC6A1):c.850-5T>C
|
rs1398769799
|
0.00001
|
NM_003042.4(SLC6A1):c.918C>T (p.Leu306=)
|
rs775332356
|
0.00001
|
NM_003042.4(SLC6A1):c.929A>G (p.Asn310Ser)
|
rs896013015
|
0.00001
|
NM_003042.4(SLC6A1):c.967G>A (p.Val323Ile)
|
rs1403165900
|
0.00001
|
NM_003060.4(SLC22A5):c.105C>T (p.Thr35=)
|
rs765461422
|
0.00001
|
NM_003060.4(SLC22A5):c.111G>C (p.Leu37=)
|
rs762780354
|
0.00001
|
NM_003060.4(SLC22A5):c.114C>T (p.Ser38=)
|
rs756867867
|
0.00001
|
NM_003060.4(SLC22A5):c.1177C>T (p.Leu393=)
|
rs368514254
|
0.00001
|
NM_003060.4(SLC22A5):c.117C>T (p.Ser39=)
|
rs201427730
|
0.00001
|
NM_003060.4(SLC22A5):c.1227G>C (p.Leu409=)
|
rs1346191785
|
0.00001
|
NM_003060.4(SLC22A5):c.1267+14G>A
|
rs769114259
|
0.00001
|
NM_003060.4(SLC22A5):c.1268-20T>A
|
rs1752733205
|
0.00001
|
NM_003060.4(SLC22A5):c.1320G>A (p.Thr440=)
|
rs747285272
|
0.00001
|
NM_003060.4(SLC22A5):c.1332C>T (p.Ser444=)
|
rs769918856
|
0.00001
|
NM_003060.4(SLC22A5):c.1353C>T (p.Ala451=)
|
rs374662740
|
0.00001
|
NM_003060.4(SLC22A5):c.1359G>A (p.Leu453=)
|
rs1168638815
|
0.00001
|
NM_003060.4(SLC22A5):c.135C>G (p.Thr45=)
|
rs202000855
|
0.00001
|
NM_003060.4(SLC22A5):c.1395C>G (p.Val465=)
|
rs781562637
|
0.00001
|
NM_003060.4(SLC22A5):c.144C>T (p.His48=)
|
rs745897099
|
0.00001
|
NM_003060.4(SLC22A5):c.1450+10A>G
|
rs1487082253
|
0.00001
|
NM_003060.4(SLC22A5):c.1450+7C>A
|
rs1223468160
|
0.00001
|
NM_003060.4(SLC22A5):c.1451-17C>T
|
rs771588323
|
0.00001
|
NM_003060.4(SLC22A5):c.147C>T (p.Arg49=)
|
rs1461536917
|
0.00001
|
NM_003060.4(SLC22A5):c.150C>T (p.Cys50=)
|
rs974348546
|
0.00001
|
NM_003060.4(SLC22A5):c.1515C>T (p.Leu505=)
|
rs780129415
|
0.00001
|
NM_003060.4(SLC22A5):c.153G>A (p.Arg51=)
|
rs1330041441
|
0.00001
|
NM_003060.4(SLC22A5):c.1563T>C (p.Ile521=)
|
rs1325105843
|
0.00001
|
NM_003060.4(SLC22A5):c.1578A>G (p.Arg526=)
|
rs1554088590
|
0.00001
|
NM_003060.4(SLC22A5):c.207G>A (p.Leu69=)
|
rs377767446
|
0.00001
|
NM_003060.4(SLC22A5):c.24C>A (p.Thr8=)
|
rs766678115
|
0.00001
|
NM_003060.4(SLC22A5):c.300G>A (p.Gly100=)
|
rs552442289
|
0.00001
|
NM_003060.4(SLC22A5):c.303C>T (p.Arg101=)
|
rs1368157214
|
0.00001
|
NM_003060.4(SLC22A5):c.30C>T (p.Phe10=)
|
rs574313463
|
0.00001
|
NM_003060.4(SLC22A5):c.315G>C (p.Leu105=)
|
rs1012140520
|
0.00001
|
NM_003060.4(SLC22A5):c.318G>A (p.Gly106=)
|
rs1214969369
|
0.00001
|
NM_003060.4(SLC22A5):c.393+10G>A
|
rs1365783263
|
0.00001
|
NM_003060.4(SLC22A5):c.394-10C>T
|
rs748687943
|
0.00001
|
NM_003060.4(SLC22A5):c.399C>T (p.Asn133=)
|
rs1027119483
|
0.00001
|
NM_003060.4(SLC22A5):c.405G>A (p.Val135=)
|
rs777083211
|
0.00001
|
NM_003060.4(SLC22A5):c.450C>T (p.Phe150=)
|
rs756089971
|
0.00001
|
NM_003060.4(SLC22A5):c.462G>A (p.Leu154=)
|
rs771808266
|
0.00001
|
NM_003060.4(SLC22A5):c.463T>C (p.Leu155=)
|
rs777136671
|
0.00001
|
NM_003060.4(SLC22A5):c.497+19G>A
|
rs764058694
|
0.00001
|
NM_003060.4(SLC22A5):c.497+9T>C
|
rs969798244
|
0.00001
|
NM_003060.4(SLC22A5):c.498-4C>A
|
rs778593047
|
0.00001
|
NM_003060.4(SLC22A5):c.546C>T (p.Gly182=)
|
rs1329903175
|
0.00001
|
NM_003060.4(SLC22A5):c.63C>T (p.Ile21=)
|
rs769437903
|
0.00001
|
NM_003060.4(SLC22A5):c.717T>C (p.Tyr239=)
|
rs1370546808
|
0.00001
|
NM_003060.4(SLC22A5):c.747T>C (p.Phe249=)
|
rs746473075
|
0.00001
|
NM_003060.4(SLC22A5):c.786G>A (p.Ala262=)
|
rs758916243
|
0.00001
|
NM_003060.4(SLC22A5):c.792G>A (p.Thr264=)
|
rs771014732
|
0.00001
|
NM_003060.4(SLC22A5):c.801G>A (p.Gly267=)
|
rs554745191
|
0.00001
|
NM_003060.4(SLC22A5):c.825-10G>A
|
rs766084888
|
0.00001
|
NM_003060.4(SLC22A5):c.942C>T (p.Asp314=)
|
rs1752560559
|
0.00001
|
NM_003060.4(SLC22A5):c.945G>A (p.Pro315=)
|
rs764733247
|
0.00001
|
NM_003060.4(SLC22A5):c.951+10_951+15del
|
rs769613982
|
0.00001
|
NM_003748.4(ALDH4A1):c.108C>T (p.Pro36=)
|
rs768297819
|
0.00001
|
NM_003748.4(ALDH4A1):c.1137+12C>T
|
rs749404523
|
0.00001
|
NM_003748.4(ALDH4A1):c.1138-6C>T
|
rs755890443
|
0.00001
|
NM_003748.4(ALDH4A1):c.1521C>T (p.Asn507=)
|
rs757085430
|
0.00001
|
NM_003748.4(ALDH4A1):c.453+20G>T
|
rs1406816149
|
0.00001
|
NM_003748.4(ALDH4A1):c.501C>T (p.Ile167=)
|
rs754269597
|
0.00001
|
NM_003748.4(ALDH4A1):c.531G>A (p.Ala177=)
|
rs138847454
|
0.00001
|
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=)
|
rs775591571
|
0.00001
|
NM_003748.4(ALDH4A1):c.945C>T (p.Cys315=)
|
rs774448725
|
0.00001
|
NM_003982.4(SLC7A7):c.105G>A (p.Lys35=)
|
rs753833842
|
0.00001
|
NM_003982.4(SLC7A7):c.1096-7C>T
|
rs772027108
|
0.00001
|
NM_003982.4(SLC7A7):c.1096-8G>A
|
rs1378166336
|
0.00001
|
NM_003982.4(SLC7A7):c.1117T>C (p.Leu373=)
|
rs769906633
|
0.00001
|
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=)
|
rs371346432
|
0.00001
|
NM_003982.4(SLC7A7):c.1149C>T (p.Asn383=)
|
rs758810096
|
0.00001
|
NM_003982.4(SLC7A7):c.1246-8G>A
|
rs764143566
|
0.00001
|
NM_003982.4(SLC7A7):c.1329C>T (p.Ser443=)
|
rs1363447141
|
0.00001
|
NM_003982.4(SLC7A7):c.1356A>G (p.Ser452=)
|
rs1346185145
|
0.00001
|
NM_003982.4(SLC7A7):c.1429+7C>T
|
rs552331172
|
0.00001
|
NM_003982.4(SLC7A7):c.1430-8C>T
|
rs1310878284
|
0.00001
|
NM_003982.4(SLC7A7):c.1452G>A (p.Gln484=)
|
rs2038526040
|
0.00001
|
NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=)
|
rs1566438384
|
0.00001
|
NM_003982.4(SLC7A7):c.1535A>G (p.Ter512=)
|
rs777446088
|
0.00001
|
NM_003982.4(SLC7A7):c.153C>T (p.Ile51=)
|
rs762189517
|
0.00001
|
NM_003982.4(SLC7A7):c.291T>C (p.Ile97=)
|
rs1373571295
|
0.00001
|
NM_003982.4(SLC7A7):c.447G>A (p.Pro149=)
|
rs375485114
|
0.00001
|
NM_003982.4(SLC7A7):c.474C>T (p.Ser158=)
|
rs373825689
|
0.00001
|
NM_003982.4(SLC7A7):c.477C>T (p.Arg159=)
|
rs753120791
|
0.00001
|
NM_003982.4(SLC7A7):c.478C>T (p.Leu160=)
|
rs376853890
|
0.00001
|
NM_003982.4(SLC7A7):c.510C>T (p.Thr170=)
|
rs761380240
|
0.00001
|
NM_003982.4(SLC7A7):c.516T>C (p.Ile172=)
|
rs527568845
|
0.00001
|
NM_003982.4(SLC7A7):c.583C>T (p.Leu195=)
|
rs775643218
|
0.00001
|
NM_003982.4(SLC7A7):c.585G>A (p.Leu195=)
|
rs768649205
|
0.00001
|
NM_003982.4(SLC7A7):c.588C>T (p.Ile196=)
|
rs747530058
|
0.00001
|
NM_003982.4(SLC7A7):c.58T>C (p.Leu20=)
|
rs1437964553
|
0.00001
|
NM_003982.4(SLC7A7):c.618T>G (p.Leu206=)
|
rs2038686425
|
0.00001
|
NM_003982.4(SLC7A7):c.699C>T (p.Tyr233=)
|
rs767657396
|
0.00001
|
NM_003982.4(SLC7A7):c.732C>T (p.Thr244=)
|
rs758362364
|
0.00001
|
NM_003982.4(SLC7A7):c.770+7A>G
|
rs774913676
|
0.00001
|
NM_003982.4(SLC7A7):c.771-5T>C
|
rs371954584
|
0.00001
|
NM_003982.4(SLC7A7):c.792C>G (p.Gly264=)
|
rs770260977
|
0.00001
|
NM_003982.4(SLC7A7):c.795C>T (p.Ile265=)
|
rs777140678
|
0.00001
|
NM_003982.4(SLC7A7):c.84G>A (p.Pro28=)
|
rs746630301
|
0.00001
|
NM_003982.4(SLC7A7):c.864A>G (p.Arg288=)
|
rs1304389598
|
0.00001
|
NM_003982.4(SLC7A7):c.894+13dup
|
rs779202322
|
0.00001
|
NM_003982.4(SLC7A7):c.966T>C (p.Gly322=)
|
rs780862401
|
0.00001
|
NM_003982.4(SLC7A7):c.972C>G (p.Leu324=)
|
rs1239008031
|
0.00001
|
NM_003982.4(SLC7A7):c.998+9G>C
|
rs1350841635
|
0.00001
|
NM_004408.4(DNM1):c.1011C>T (p.Ala337=)
|
rs753714670
|
0.00001
|
NM_004408.4(DNM1):c.1053C>T (p.Ile351=)
|
rs1420306273
|
0.00001
|
NM_004408.4(DNM1):c.1098C>T (p.Phe366=)
|
rs532535557
|
0.00001
|
NM_004408.4(DNM1):c.1101C>T (p.His367=)
|
rs747430397
|
0.00001
|
NM_004408.4(DNM1):c.1116C>T (p.Phe372=)
|
rs367584321
|
0.00001
|
NM_004408.4(DNM1):c.1137T>C (p.Phe379=)
|
rs1835101654
|
0.00001
|
NM_004408.4(DNM1):c.1146G>A (p.Lys382=)
|
rs150617335
|
0.00001
|
NM_004408.4(DNM1):c.1155A>C (p.Arg385=)
|
rs140703430
|
0.00001
|
NM_004408.4(DNM1):c.1196+14C>T
|
rs372024347
|
0.00001
|
NM_004408.4(DNM1):c.1197-4T>C
|
rs1004698189
|
0.00001
|
NM_004408.4(DNM1):c.1197-6G>A
|
rs767877912
|
0.00001
|
NM_004408.4(DNM1):c.1262G>A (p.Arg421Gln)
|
rs769689269
|
0.00001
|
NM_004408.4(DNM1):c.1269G>A (p.Pro423=)
|
rs1436554330
|
0.00001
|
NM_004408.4(DNM1):c.1335+7C>T
|
rs201230726
|
0.00001
|
NM_004408.4(DNM1):c.1336-15C>T
|
rs764771425
|
0.00001
|
NM_004408.4(DNM1):c.1336-7T>C
|
rs550764968
|
0.00001
|
NM_004408.4(DNM1):c.1356A>G (p.Leu452=)
|
rs756954152
|
0.00001
|
NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln)
|
rs750296552
|
0.00001
|
NM_004408.4(DNM1):c.1359G>A (p.Arg453=)
|
rs968662562
|
0.00001
|
NM_004408.4(DNM1):c.1409G>A (p.Arg470His)
|
rs763830358
|
0.00001
|
NM_004408.4(DNM1):c.1422+10G>A
|
rs375886288
|
0.00001
|
NM_004408.4(DNM1):c.1422+16C>T
|
rs766488967
|
0.00001
|
NM_004408.4(DNM1):c.1443C>T (p.Ile481=)
|
rs778321233
|
0.00001
|
NM_004408.4(DNM1):c.1494-10C>T
|
rs772807242
|
0.00001
|
NM_004408.4(DNM1):c.1494-15C>T
|
rs375232749
|
0.00001
|
NM_004408.4(DNM1):c.150T>C (p.Asn50=)
|
rs769600214
|
0.00001
|
NM_004408.4(DNM1):c.1524G>A (p.Lys508=)
|
rs1057523085
|
0.00001
|
NM_004408.4(DNM1):c.1671+11G>C
|
rs377034879
|
0.00001
|
NM_004408.4(DNM1):c.1743G>A (p.Ser581=)
|
rs776254391
|
0.00001
|
NM_004408.4(DNM1):c.1894-5C>G
|
rs1836928538
|
0.00001
|
NM_004408.4(DNM1):c.1932C>T (p.Ser644=)
|
rs750934085
|
0.00001
|
NM_004408.4(DNM1):c.1956C>T (p.Asp652=)
|
rs1564353077
|
0.00001
|
NM_004408.4(DNM1):c.199C>T (p.Arg67Cys)
|
rs199575353
|
0.00001
|
NM_004408.4(DNM1):c.2070T>A (p.Ile690=)
|
rs1019671226
|
0.00001
|
NM_004408.4(DNM1):c.2076+17A>G
|
rs1361466672
|
0.00001
|
NM_004408.4(DNM1):c.2113C>T (p.Leu705=)
|
rs752228958
|
0.00001
|
NM_004408.4(DNM1):c.2163G>A (p.Gln721=)
|
rs146678077
|
0.00001
|
NM_004408.4(DNM1):c.224A>G (p.Asn75Ser)
|
rs551214260
|
0.00001
|
NM_004408.4(DNM1):c.2310C>T (p.Ala770=)
|
rs1224582228
|
0.00001
|
NM_004408.4(DNM1):c.235+10C>T
|
rs372579464
|
0.00001
|
NM_004408.4(DNM1):c.2361C>T (p.Ala787=)
|
rs1041513039
|
0.00001
|
NM_004408.4(DNM1):c.2379C>T (p.Pro793=)
|
rs1215135225
|
0.00001
|
NM_004408.4(DNM1):c.2418G>T (p.Gly806=)
|
rs1413872976
|
0.00001
|
NM_004408.4(DNM1):c.2536C>T (p.Arg846Ter)
|
rs752575279
|
0.00001
|
NM_004408.4(DNM1):c.354G>A (p.Val118=)
|
rs1357577359
|
0.00001
|
NM_004408.4(DNM1):c.386-17C>T
|
rs766023182
|
0.00001
|
NM_004408.4(DNM1):c.3G>T (p.Met1Ile)
|
rs1401701364
|
0.00001
|
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln)
|
rs763288862
|
0.00001
|
NM_004408.4(DNM1):c.528C>T (p.Pro176=)
|
rs146242842
|
0.00001
|
NM_004408.4(DNM1):c.603C>T (p.Ile201=)
|
rs1484030185
|
0.00001
|
NM_004408.4(DNM1):c.624C>T (p.Asp208=)
|
rs1395270062
|
0.00001
|
NM_004408.4(DNM1):c.633C>T (p.Asp211=)
|
rs1043525791
|
0.00001
|
NM_004408.4(DNM1):c.720G>A (p.Lys240=)
|
rs969868074
|
0.00001
|
NM_004408.4(DNM1):c.804G>A (p.Leu268=)
|
rs771201307
|
0.00001
|
NM_004408.4(DNM1):c.822G>A (p.Thr274=)
|
rs765410948
|
0.00001
|
NM_004408.4(DNM1):c.853C>T (p.Leu285=)
|
rs546034278
|
0.00001
|
NM_004408.4(DNM1):c.882G>A (p.Pro294=)
|
rs559572430
|
0.00001
|
NM_004408.4(DNM1):c.920T>C (p.Ile307Thr)
|
rs1052613908
|
0.00001
|
NM_004408.4(DNM1):c.924G>A (p.Glu308=)
|
rs1364961903
|
0.00001
|
NM_004408.4(DNM1):c.990G>T (p.Leu330=)
|
rs761236543
|
0.00001
|
NM_004408.4(DNM1):c.992+18C>T
|
rs1320762709
|
0.00001
|
NM_004408.4(DNM1):c.992+19C>T
|
rs1375346310
|
0.00001
|
NM_004453.4(ETFDH):c.1083C>T (p.Tyr361=)
|
rs765063539
|
0.00001
|
NM_004453.4(ETFDH):c.108T>G (p.Thr36=)
|
rs140731939
|
0.00001
|
NM_004453.4(ETFDH):c.1107T>C (p.Gly369=)
|
rs781782240
|
0.00001
|
NM_004453.4(ETFDH):c.1116+10C>T
|
rs1417738324
|
0.00001
|
NM_004453.4(ETFDH):c.1117-4T>C
|
rs940742984
|
0.00001
|
NM_004453.4(ETFDH):c.1233A>C (p.Ala411=)
|
rs772194053
|
0.00001
|
NM_004453.4(ETFDH):c.1286-16A>G
|
rs1163678059
|
0.00001
|
NM_004453.4(ETFDH):c.1286-8A>T
|
rs1054882235
|
0.00001
|
NM_004453.4(ETFDH):c.1290C>G (p.Leu430=)
|
rs770765347
|
0.00001
|
NM_004453.4(ETFDH):c.1293T>C (p.His431=)
|
rs745559526
|
0.00001
|
NM_004453.4(ETFDH):c.12G>A (p.Pro4=)
|
rs373776053
|
0.00001
|
NM_004453.4(ETFDH):c.1326A>T (p.Ser442=)
|
rs1188056766
|
0.00001
|
NM_004453.4(ETFDH):c.1344A>G (p.Leu448=)
|
rs765652548
|
0.00001
|
NM_004453.4(ETFDH):c.1368G>A (p.Pro456=)
|
rs781354386
|
0.00001
|
NM_004453.4(ETFDH):c.1377C>T (p.His459=)
|
rs1243627865
|
0.00001
|
NM_004453.4(ETFDH):c.1432T>C (p.Leu478=)
|
rs1774615019
|
0.00001
|
NM_004453.4(ETFDH):c.1468+8A>G
|
rs755214741
|
0.00001
|
NM_004453.4(ETFDH):c.1506C>T (p.Cys502=)
|
rs1405831535
|
0.00001
|
NM_004453.4(ETFDH):c.1512T>C (p.Pro504=)
|
rs940960964
|
0.00001
|
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)
|
rs754795292
|
0.00001
|
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=)
|
rs1408118210
|
0.00001
|
NM_004453.4(ETFDH):c.1665G>A (p.Gly555=)
|
rs1305282556
|
0.00001
|
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=)
|
rs747312700
|
0.00001
|
NM_004453.4(ETFDH):c.1734G>A (p.Arg578=)
|
rs761505388
|
0.00001
|
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=)
|
rs755342205
|
0.00001
|
NM_004453.4(ETFDH):c.219A>T (p.Ile73=)
|
rs1297866480
|
0.00001
|
NM_004453.4(ETFDH):c.267G>A (p.Gln89=)
|
rs1773880095
|
0.00001
|
NM_004453.4(ETFDH):c.27C>T (p.Ser9=)
|
rs746903871
|
0.00001
|
NM_004453.4(ETFDH):c.34+7G>A
|
rs1436016069
|
0.00001
|
NM_004453.4(ETFDH):c.342C>T (p.Leu114=)
|
rs770193214
|
0.00001
|
NM_004453.4(ETFDH):c.363A>G (p.Pro121=)
|
rs1773885365
|
0.00001
|
NM_004453.4(ETFDH):c.399G>A (p.Glu133=)
|
rs1319398122
|
0.00001
|
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)
|
rs751256504
|
0.00001
|
NM_004453.4(ETFDH):c.459A>G (p.Lys153=)
|
rs749702132
|
0.00001
|
NM_004453.4(ETFDH):c.507T>C (p.His169=)
|
rs772286040
|
0.00001
|
NM_004453.4(ETFDH):c.552C>T (p.Gly184=)
|
rs752262349
|
0.00001
|
NM_004453.4(ETFDH):c.654T>C (p.Asp218=)
|
rs1241684347
|
0.00001
|
NM_004453.4(ETFDH):c.738A>G (p.Glu246=)
|
rs1212314821
|
0.00001
|
NM_004453.4(ETFDH):c.768A>G (p.Leu256=)
|
rs1481843055
|
0.00001
|
NM_004453.4(ETFDH):c.777G>A (p.Lys259=)
|
rs1365101415
|
0.00001
|
NM_004453.4(ETFDH):c.832-19T>G
|
rs775057755
|
0.00001
|
NM_004453.4(ETFDH):c.832-5T>C
|
rs768022965
|
0.00001
|
NM_004453.4(ETFDH):c.832-8T>A
|
rs912481593
|
0.00001
|
NM_004453.4(ETFDH):c.84A>G (p.Leu28=)
|
rs1053865022
|
0.00001
|
NM_004453.4(ETFDH):c.870A>G (p.Arg290=)
|
rs752487495
|
0.00001
|
NM_004453.4(ETFDH):c.969T>G (p.Leu323=)
|
rs753462513
|
0.00001
|
NM_004483.5(GCSH):c.102G>A (p.Gly34=)
|
rs941391744
|
0.00001
|
NM_004483.5(GCSH):c.153T>C (p.Arg51=)
|
rs142243166
|
0.00001
|
NM_004483.5(GCSH):c.425-8G>C
|
rs770923322
|
0.00001
|
NM_004483.5(GCSH):c.75C>T (p.Pro25=)
|
rs958918692
|
0.00001
|
NM_004577.4(PSPH):c.414C>T (p.Tyr138=)
|
rs756554508
|
0.00001
|
NM_004577.4(PSPH):c.542C>T (p.Ala181Val)
|
rs527489732
|
0.00001
|
NM_004577.4(PSPH):c.609A>G (p.Gln203=)
|
rs752178752
|
0.00001
|
NM_004577.4(PSPH):c.615C>T (p.Val205=)
|
rs1335846307
|
0.00001
|
NM_004937.3(CTNS):c.1014C>T (p.Leu338=)
|
rs766085355
|
0.00001
|
NM_004937.3(CTNS):c.1020C>G (p.Val340=)
|
rs759909683
|
0.00001
|
NM_004937.3(CTNS):c.102G>A (p.Leu34=)
|
rs2075871217
|
0.00001
|
NM_004937.3(CTNS):c.1080A>G (p.Arg360=)
|
rs1244220520
|
0.00001
|
NM_004937.3(CTNS):c.1089T>C (p.Tyr363=)
|
rs371237992
|
0.00001
|
NM_004937.3(CTNS):c.141-6C>T
|
rs777132924
|
0.00001
|
NM_004937.3(CTNS):c.207C>T (p.Ile69=)
|
rs765304748
|
0.00001
|
NM_004937.3(CTNS):c.225+9C>A
|
rs779694812
|
0.00001
|
NM_004937.3(CTNS):c.270A>T (p.Thr90=)
|
rs754247532
|
0.00001
|
NM_004937.3(CTNS):c.333G>A (p.Pro111=)
|
rs755169805
|
0.00001
|
NM_004937.3(CTNS):c.341G>A (p.Arg114His)
|
rs559362332
|
0.00001
|
NM_004937.3(CTNS):c.363C>T (p.Ser121=)
|
rs746463725
|
0.00001
|
NM_004937.3(CTNS):c.39C>T (p.Pro13=)
|
rs370068809
|
0.00001
|
NM_004937.3(CTNS):c.462-10C>A
|
rs765481486
|
0.00001
|
NM_004937.3(CTNS):c.462-10C>T
|
rs765481486
|
0.00001
|
NM_004937.3(CTNS):c.525A>G (p.Val175=)
|
rs1040347769
|
0.00001
|
NM_004937.3(CTNS):c.588C>T (p.Asn196=)
|
rs757955245
|
0.00001
|
NM_004937.3(CTNS):c.597C>T (p.Asn199=)
|
rs1325554729
|
0.00001
|
NM_004937.3(CTNS):c.609C>T (p.Ser203=)
|
rs200273011
|
0.00001
|
NM_004937.3(CTNS):c.61+7T>C
|
rs762701585
|
0.00001
|
NM_004937.3(CTNS):c.612C>T (p.Asn204=)
|
rs200170842
|
0.00001
|
NM_004937.3(CTNS):c.615C>T (p.Asp205=)
|
rs756137690
|
0.00001
|
NM_004937.3(CTNS):c.660C>T (p.Ile220=)
|
rs369227591
|
0.00001
|
NM_004937.3(CTNS):c.681+7C>A
|
rs757360314
|
0.00001
|
NM_004937.3(CTNS):c.681+9A>T
|
rs1800531
|
0.00001
|
NM_004937.3(CTNS):c.682-8G>A
|
rs759116689
|
0.00001
|
NM_004937.3(CTNS):c.714C>T (p.Ile238=)
|
rs372330647
|
0.00001
|
NM_004937.3(CTNS):c.720C>T (p.Phe240=)
|
rs771577860
|
0.00001
|
NM_004937.3(CTNS):c.729C>T (p.Leu243=)
|
rs762142619
|
0.00001
|
NM_004937.3(CTNS):c.732G>A (p.Ala244=)
|
rs199518474
|
0.00001
|
NM_004937.3(CTNS):c.744A>G (p.Ala248=)
|
rs767702551
|
0.00001
|
NM_004937.3(CTNS):c.768A>G (p.Ala256=)
|
rs746564292
|
0.00001
|
NM_004937.3(CTNS):c.783G>A (p.Thr261=)
|
rs377053292
|
0.00001
|
NM_004937.3(CTNS):c.789G>A (p.Leu263=)
|
rs773808648
|
0.00001
|
NM_004937.3(CTNS):c.792G>A (p.Gln264=)
|
rs148662747
|
0.00001
|
NM_004937.3(CTNS):c.855C>G (p.Ala285=)
|
rs1425996808
|
0.00001
|
NM_004937.3(CTNS):c.879C>T (p.Ser293=)
|
rs767558679
|
0.00001
|
NM_004937.3(CTNS):c.885G>A (p.Glu295=)
|
rs752243433
|
0.00001
|
NM_004937.3(CTNS):c.897T>C (p.Ile299=)
|
rs199824920
|
0.00001
|
NM_004937.3(CTNS):c.903C>T (p.Asn301=)
|
rs757595884
|
0.00001
|
NM_004937.3(CTNS):c.966C>T (p.Asn322=)
|
rs767301567
|
0.00001
|
NM_004937.3(CTNS):c.970+14C>T
|
rs756853653
|
0.00001
|
NM_004937.3(CTNS):c.971-8G>A
|
rs777822023
|
0.00001
|
NM_004937.3(CTNS):c.981G>A (p.Thr327=)
|
rs779967932
|
0.00001
|
NM_004937.3(CTNS):c.990C>T (p.Phe330=)
|
rs544777200
|
0.00001
|
NM_004974.4(KCNA2):c.1014G>C (p.Gly338=)
|
rs975996921
|
0.00001
|
NM_004974.4(KCNA2):c.1113C>T (p.Ser371=)
|
rs1022053211
|
0.00001
|
NM_004974.4(KCNA2):c.1281C>T (p.Ala427=)
|
rs769892809
|
0.00001
|
NM_004974.4(KCNA2):c.1385A>G (p.Gln462Arg)
|
rs767147366
|
0.00001
|
NM_004974.4(KCNA2):c.1433A>G (p.Lys478Arg)
|
rs1243868138
|
0.00001
|
NM_004974.4(KCNA2):c.144A>G (p.Leu48=)
|
rs369373711
|
0.00001
|
NM_004974.4(KCNA2):c.156C>T (p.Ala52=)
|
rs1444396267
|
0.00001
|
NM_004974.4(KCNA2):c.234C>T (p.Phe78=)
|
rs1384622440
|
0.00001
|
NM_004974.4(KCNA2):c.273C>T (p.Tyr91=)
|
rs750174299
|
0.00001
|
NM_004974.4(KCNA2):c.366G>A (p.Ala122=)
|
rs768027755
|
0.00001
|
NM_004974.4(KCNA2):c.465C>T (p.Tyr155=)
|
rs752785338
|
0.00001
|
NM_004974.4(KCNA2):c.552A>G (p.Thr184=)
|
rs1649493531
|
0.00001
|
NM_004974.4(KCNA2):c.65C>G (p.Thr22Ser)
|
rs1403692006
|
0.00001
|
NM_004974.4(KCNA2):c.745G>A (p.Gly249Ser)
|
rs746926057
|
0.00001
|
NM_004974.4(KCNA2):c.792C>A (p.Ile264=)
|
rs200005187
|
0.00001
|
NM_004974.4(KCNA2):c.885C>T (p.Val295=)
|
rs749777424
|
0.00001
|
NM_004974.4(KCNA2):c.909G>A (p.Arg303=)
|
rs759220639
|
0.00001
|
NM_004974.4(KCNA2):c.915C>T (p.Phe305=)
|
rs776140578
|
0.00001
|
NM_004974.4(KCNA2):c.9G>A (p.Val3=)
|
rs1217542162
|
0.00001
|
NM_004975.4(KCNB1):c.1023C>T (p.Gly341=)
|
rs763113494
|
0.00001
|
NM_004975.4(KCNB1):c.1047C>A (p.Val349=)
|
rs773495969
|
0.00001
|
NM_004975.4(KCNB1):c.1098C>T (p.Ala366=)
|
rs777002170
|
0.00001
|
NM_004975.4(KCNB1):c.1116C>G (p.Thr372=)
|
rs1347667767
|
0.00001
|
NM_004975.4(KCNB1):c.1128T>A (p.Thr376=)
|
rs375581882
|
0.00001
|
NM_004975.4(KCNB1):c.117G>A (p.Gly39=)
|
rs368376649
|
0.00001
|
NM_004975.4(KCNB1):c.1294C>T (p.Arg432Trp)
|
rs752596402
|
0.00001
|
NM_004975.4(KCNB1):c.1299A>G (p.Arg433=)
|
rs758700383
|
0.00001
|
NM_004975.4(KCNB1):c.1332C>T (p.Ser444=)
|
rs1178240064
|
0.00001
|
NM_004975.4(KCNB1):c.1410G>A (p.Glu470=)
|
rs1214032172
|
0.00001
|
NM_004975.4(KCNB1):c.1444C>A (p.His482Asn)
|
rs1171133807
|
0.00001
|
NM_004975.4(KCNB1):c.1506G>T (p.Lys502Asn)
|
rs761247010
|
0.00001
|
NM_004975.4(KCNB1):c.1723C>T (p.Arg575Cys)
|
rs947355756
|
0.00001
|
NM_004975.4(KCNB1):c.1862C>T (p.Ala621Val)
|
rs770069345
|
0.00001
|
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr)
|
rs1447311755
|
0.00001
|
NM_004975.4(KCNB1):c.1950T>C (p.Ser650=)
|
rs767412426
|
0.00001
|
NM_004975.4(KCNB1):c.1962C>T (p.Ile654=)
|
rs1226209770
|
0.00001
|
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys)
|
rs769948178
|
0.00001
|
NM_004975.4(KCNB1):c.1968C>T (p.Ser656=)
|
rs751330439
|
0.00001
|
NM_004975.4(KCNB1):c.2049A>C (p.Pro683=)
|
rs751308084
|
0.00001
|
NM_004975.4(KCNB1):c.204G>A (p.Ser68=)
|
rs1202077661
|
0.00001
|
NM_004975.4(KCNB1):c.2055C>A (p.Leu685=)
|
rs200849612
|
0.00001
|
NM_004975.4(KCNB1):c.2127G>A (p.Glu709=)
|
rs750280554
|
0.00001
|
NM_004975.4(KCNB1):c.2201C>A (p.Pro734His)
|
rs780940515
|
0.00001
|
NM_004975.4(KCNB1):c.2322C>T (p.Pro774=)
|
rs1471605520
|
0.00001
|
NM_004975.4(KCNB1):c.2345C>T (p.Thr782Ile)
|
rs751639377
|
0.00001
|
NM_004975.4(KCNB1):c.2352G>A (p.Pro784=)
|
rs763162952
|
0.00001
|
NM_004975.4(KCNB1):c.2425T>C (p.Leu809=)
|
rs745432739
|
0.00001
|
NM_004975.4(KCNB1):c.2457A>G (p.Ala819=)
|
rs755210446
|
0.00001
|
NM_004975.4(KCNB1):c.2524C>T (p.Arg842Cys)
|
rs758964585
|
0.00001
|
NM_004975.4(KCNB1):c.27C>A (p.Gly9=)
|
rs760648829
|
0.00001
|
NM_004975.4(KCNB1):c.300C>G (p.Arg100=)
|
rs760237871
|
0.00001
|
NM_004975.4(KCNB1):c.411C>T (p.Tyr137=)
|
rs747090668
|
0.00001
|
NM_004975.4(KCNB1):c.492T>C (p.Asp164=)
|
rs1392771017
|
0.00001
|
NM_004975.4(KCNB1):c.4C>T (p.Pro2Ser)
|
rs1054441474
|
0.00001
|
NM_004975.4(KCNB1):c.54C>T (p.Pro18=)
|
rs1403444378
|
0.00001
|
NM_004975.4(KCNB1):c.567+3G>A
|
rs752873604
|
0.00001
|
NM_004975.4(KCNB1):c.660C>T (p.Phe220=)
|
rs751017425
|
0.00001
|
NM_004975.4(KCNB1):c.702C>T (p.Ala234=)
|
rs753634361
|
0.00001
|
NM_004975.4(KCNB1):c.711C>T (p.Ile237=)
|
rs1020438851
|
0.00001
|
NM_004975.4(KCNB1):c.738G>A (p.Leu246=)
|
rs1336511502
|
0.00001
|
NM_004975.4(KCNB1):c.81G>A (p.Lys27=)
|
rs910155179
|
0.00001
|
NM_004975.4(KCNB1):c.84G>C (p.Ala28=)
|
rs748425302
|
0.00001
|
NM_004975.4(KCNB1):c.882C>T (p.Arg294=)
|
rs757868422
|
0.00001
|
NM_004975.4(KCNB1):c.900C>A (p.Arg300=)
|
rs1057523982
|
0.00001
|
NM_004975.4(KCNB1):c.903C>T (p.Ile301=)
|
rs1441724609
|
0.00001
|
NM_004975.4(KCNB1):c.954G>A (p.Gln318=)
|
rs368624252
|
0.00001
|
NM_004975.4(KCNB1):c.974G>A (p.Arg325Gln)
|
rs759765009
|
0.00001
|
NM_004975.4(KCNB1):c.984C>T (p.Tyr328=)
|
rs1179351306
|
0.00001
|
NM_004975.4(KCNB1):c.99C>A (p.Val33=)
|
rs932309335
|
0.00001
|
NM_005050.4(ABCD4):c.1028+17C>T
|
rs1290816055
|
0.00001
|
NM_005050.4(ABCD4):c.12G>C (p.Ala4=)
|
rs754280972
|
0.00001
|
NM_005050.4(ABCD4):c.1317G>A (p.Thr439=)
|
rs201586690
|
0.00001
|
NM_005050.4(ABCD4):c.1365G>A (p.Gly455=)
|
rs760206135
|
0.00001
|
NM_005050.4(ABCD4):c.1371A>G (p.Leu457=)
|
rs780349078
|
0.00001
|
NM_005050.4(ABCD4):c.1449C>T (p.Pro483=)
|
rs747273884
|
0.00001
|
NM_005050.4(ABCD4):c.158-7C>A
|
rs557930358
|
0.00001
|
NM_005050.4(ABCD4):c.1753-4G>A
|
rs554458015
|
0.00001
|
NM_005050.4(ABCD4):c.285+19T>C
|
rs369159114
|
0.00001
|
NM_005050.4(ABCD4):c.360C>T (p.His120=)
|
rs1050702853
|
0.00001
|
NM_005050.4(ABCD4):c.594C>T (p.Thr198=)
|
rs202070697
|
0.00001
|
NM_005050.4(ABCD4):c.669-7C>T
|
rs371152472
|
0.00001
|
NM_005050.4(ABCD4):c.6G>A (p.Ala2=)
|
rs1486429349
|
0.00001
|
NM_005050.4(ABCD4):c.9C>G (p.Val3=)
|
rs72542410
|
0.00001
|
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=)
|
rs774771496
|
0.00001
|
NM_005271.5(GLUD1):c.168G>A (p.Ala56=)
|
rs930453131
|
0.00001
|
NM_005271.5(GLUD1):c.200T>C (p.Phe67Ser)
|
rs1401755923
|
0.00001
|
NM_005271.5(GLUD1):c.527-12C>T
|
rs780201965
|
0.00001
|
NM_005271.5(GLUD1):c.594G>A (p.Leu198=)
|
rs781638449
|
0.00001
|
NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg)
|
rs761375132
|
0.00001
|
NM_005327.7(HADH):c.159A>G (p.Val53=)
|
rs148846625
|
0.00001
|
NM_005327.7(HADH):c.579A>G (p.Thr193=)
|
rs762771153
|
0.00001
|
NM_005327.7(HADH):c.696G>A (p.Arg232=)
|
rs747476251
|
0.00001
|
NM_005327.7(HADH):c.72G>A (p.Lys24=)
|
rs781319494
|
0.00001
|
NM_005334.3(HCFC1):c.1085-15T>C
|
rs782302951
|
0.00001
|
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=)
|
rs1557116370
|
0.00001
|
NM_005334.3(HCFC1):c.138G>C (p.Val46=)
|
rs782634164
|
0.00001
|
NM_005334.3(HCFC1):c.1428C>T (p.Thr476=)
|
rs782186278
|
0.00001
|
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=)
|
rs1557115850
|
0.00001
|
NM_005334.3(HCFC1):c.2029-17C>T
|
rs1184396495
|
0.00001
|
NM_005334.3(HCFC1):c.2196C>T (p.Pro732=)
|
rs1322440288
|
0.00001
|
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=)
|
rs1557115422
|
0.00001
|
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=)
|
rs782276292
|
0.00001
|
NM_005334.3(HCFC1):c.2475C>T (p.His825=)
|
rs782533163
|
0.00001
|
NM_005334.3(HCFC1):c.2628C>T (p.Gly876=)
|
rs1557115062
|
0.00001
|
NM_005334.3(HCFC1):c.2636-16G>T
|
rs782607911
|
0.00001
|
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)
|
rs374223163
|
0.00001
|
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=)
|
rs868910589
|
0.00001
|
NM_005334.3(HCFC1):c.3558G>A (p.Pro1186=)
|
rs782676033
|
0.00001
|
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=)
|
rs1204221011
|
0.00001
|
NM_005334.3(HCFC1):c.3941A>G (p.Gln1314Arg)
|
rs781875988
|
0.00001
|
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=)
|
rs782766895
|
0.00001
|
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=)
|
rs946537625
|
0.00001
|
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
0.00001
|
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=)
|
rs782136932
|
0.00001
|
NM_005334.3(HCFC1):c.4333+11G>T
|
rs1557113474
|
0.00001
|
NM_005334.3(HCFC1):c.477C>T (p.Ser159=)
|
rs1272514582
|
0.00001
|
NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=)
|
rs368086196
|
0.00001
|
NM_005334.3(HCFC1):c.4942+9C>T
|
rs782480118
|
0.00001
|
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met)
|
rs782467999
|
0.00001
|
NM_005334.3(HCFC1):c.5172C>T (p.Asn1724=)
|
rs372903122
|
0.00001
|
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=)
|
rs377138805
|
0.00001
|
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=)
|
rs2065298662
|
0.00001
|
NM_005334.3(HCFC1):c.6069-16T>C
|
rs1184614214
|
0.00001
|
NM_005334.3(HCFC1):c.624C>T (p.Tyr208=)
|
rs1242952055
|
0.00001
|
NM_005334.3(HCFC1):c.648C>G (p.Ser216=)
|
rs1557117476
|
0.00001
|
NM_005334.3(HCFC1):c.684G>A (p.Arg228=)
|
rs781873669
|
0.00001
|
NM_005334.3(HCFC1):c.753G>A (p.Ala251=)
|
rs1557117195
|
0.00001
|
NM_005518.4(HMGCS2):c.1016+19G>T
|
rs781641917
|
0.00001
|
NM_005518.4(HMGCS2):c.1187+7A>T
|
rs769416687
|
0.00001
|
NM_005518.4(HMGCS2):c.1421-17T>C
|
rs755145375
|
0.00001
|
NM_005518.4(HMGCS2):c.387A>G (p.Val129=)
|
rs750709310
|
0.00001
|
NM_005518.4(HMGCS2):c.633C>T (p.Ala211=)
|
rs370124069
|
0.00001
|
NM_005518.4(HMGCS2):c.714G>A (p.Val238=)
|
rs1419921025
|
0.00001
|
NM_005518.4(HMGCS2):c.879C>T (p.Asp293=)
|
rs761787433
|
0.00001
|
NM_005629.4(SLC6A8):c.1008C>T (p.Asn336=)
|
rs782239150
|
0.00001
|
NM_005629.4(SLC6A8):c.1016+13G>A
|
rs782016796
|
0.00001
|
NM_005629.4(SLC6A8):c.1017-10C>T
|
rs1557045124
|
0.00001
|
NM_005629.4(SLC6A8):c.1030C>T (p.Leu344=)
|
rs1295886890
|
0.00001
|
NM_005629.4(SLC6A8):c.1053C>G (p.Thr351=)
|
rs1557045138
|
0.00001
|
NM_005629.4(SLC6A8):c.1127A>G (p.Lys376Arg)
|
rs1557045159
|
0.00001
|
NM_005629.4(SLC6A8):c.1143G>A (p.Gly381=)
|
rs782514670
|
0.00001
|
NM_005629.4(SLC6A8):c.1164C>A (p.Ala388=)
|
rs1394306160
|
0.00001
|
NM_005629.4(SLC6A8):c.1197C>T (p.Ala399=)
|
rs1557045289
|
0.00001
|
NM_005629.4(SLC6A8):c.1290C>T (p.Leu430=)
|
rs782667574
|
0.00001
|
NM_005629.4(SLC6A8):c.1315T>G (p.Phe439Val)
|
rs782206415
|
0.00001
|
NM_005629.4(SLC6A8):c.1318C>T (p.Arg440Cys)
|
rs782326194
|
0.00001
|
NM_005629.4(SLC6A8):c.1344C>A (p.Ala448=)
|
rs781971678
|
0.00001
|
NM_005629.4(SLC6A8):c.136C>T (p.Arg46Cys)
|
rs1557043834
|
0.00001
|
NM_005629.4(SLC6A8):c.1371C>T (p.Ile457=)
|
rs3179358
|
0.00001
|
NM_005629.4(SLC6A8):c.1393-5C>G
|
rs782213020
|
0.00001
|
NM_005629.4(SLC6A8):c.1407C>T (p.Val469=)
|
rs782779876
|
0.00001
|
NM_005629.4(SLC6A8):c.1431G>A (p.Ser477=)
|
rs1060453
|
0.00001
|
NM_005629.4(SLC6A8):c.1483G>A (p.Ala495Thr)
|
rs1557045503
|
0.00001
|
NM_005629.4(SLC6A8):c.1495+19C>T
|
rs1284437374
|
0.00001
|
NM_005629.4(SLC6A8):c.1496-10C>T
|
rs1557045522
|
0.00001
|
NM_005629.4(SLC6A8):c.1496-20C>T
|
rs1557045519
|
0.00001
|
NM_005629.4(SLC6A8):c.1505G>A (p.Arg502His)
|
rs1453689278
|
0.00001
|
NM_005629.4(SLC6A8):c.1512G>T (p.Met504Ile)
|
rs782325571
|
0.00001
|
NM_005629.4(SLC6A8):c.1542A>G (p.Arg514=)
|
rs1557045561
|
0.00001
|
NM_005629.4(SLC6A8):c.1575C>T (p.Phe525=)
|
rs2091477642
|
0.00001
|
NM_005629.4(SLC6A8):c.1596+10G>A
|
rs1557045600
|
0.00001
|
NM_005629.4(SLC6A8):c.1596+8C>T
|
rs782769501
|
0.00001
|
NM_005629.4(SLC6A8):c.1597-14A>G
|
rs1557045640
|
0.00001
|
NM_005629.4(SLC6A8):c.1597-4G>A
|
rs1312663828
|
0.00001
|
NM_005629.4(SLC6A8):c.1602C>G (p.Ile534Met)
|
rs782582776
|
0.00001
|
NM_005629.4(SLC6A8):c.1605C>T (p.Phe535=)
|
rs782183518
|
0.00001
|
NM_005629.4(SLC6A8):c.1650C>G (p.Thr550=)
|
rs781811330
|
0.00001
|
NM_005629.4(SLC6A8):c.1719G>A (p.Pro573=)
|
rs2314070
|
0.00001
|
NM_005629.4(SLC6A8):c.1767+17G>T
|
rs372958689
|
0.00001
|
NM_005629.4(SLC6A8):c.1767+9C>A
|
rs782076464
|
0.00001
|
NM_005629.4(SLC6A8):c.1768-10T>C
|
rs1459295373
|
0.00001
|
NM_005629.4(SLC6A8):c.1791C>T (p.Pro597=)
|
rs782481058
|
0.00001
|
NM_005629.4(SLC6A8):c.1848G>A (p.Leu616=)
|
rs1173097153
|
0.00001
|
NM_005629.4(SLC6A8):c.1907G>A (p.Ter636=)
|
rs1557045889
|
0.00001
|
NM_005629.4(SLC6A8):c.201C>T (p.Gly67=)
|
rs782020168
|
0.00001
|
NM_005629.4(SLC6A8):c.204C>T (p.Phe68=)
|
rs782128137
|
0.00001
|
NM_005629.4(SLC6A8):c.231C>T (p.Arg77=)
|
rs781820776
|
0.00001
|
NM_005629.4(SLC6A8):c.263-13C>T
|
rs1557044161
|
0.00001
|
NM_005629.4(SLC6A8):c.263-9C>A
|
rs1557044163
|
0.00001
|
NM_005629.4(SLC6A8):c.291C>T (p.Ile97=)
|
rs1557044172
|
0.00001
|
NM_005629.4(SLC6A8):c.297G>A (p.Leu99=)
|
rs782391316
|
0.00001
|
NM_005629.4(SLC6A8):c.333G>C (p.Ser111=)
|
rs781916894
|
0.00001
|
NM_005629.4(SLC6A8):c.375C>T (p.Asn125=)
|
rs1169070771
|
0.00001
|
NM_005629.4(SLC6A8):c.395-9C>T
|
rs782540675
|
0.00001
|
NM_005629.4(SLC6A8):c.405C>T (p.Tyr135=)
|
rs782249346
|
0.00001
|
NM_005629.4(SLC6A8):c.459C>T (p.Ala153=)
|
rs782593568
|
0.00001
|
NM_005629.4(SLC6A8):c.486C>T (p.Ser162=)
|
rs1414869177
|
0.00001
|
NM_005629.4(SLC6A8):c.522C>T (p.His174=)
|
rs1557044433
|
0.00001
|
NM_005629.4(SLC6A8):c.543C>T (p.Cys181=)
|
rs1221310274
|
0.00001
|
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn)
|
rs1261794545
|
0.00001
|
NM_005629.4(SLC6A8):c.552C>A (p.Ile184=)
|
rs1557044439
|
0.00001
|
NM_005629.4(SLC6A8):c.579C>T (p.Ala193=)
|
rs782164730
|
0.00001
|
NM_005629.4(SLC6A8):c.627T>C (p.Pro209=)
|
rs1057521539
|
0.00001
|
NM_005629.4(SLC6A8):c.682C>T (p.Pro228Ser)
|
rs781848986
|
0.00001
|
NM_005629.4(SLC6A8):c.687G>A (p.Gly229=)
|
rs1557044561
|
0.00001
|
NM_005629.4(SLC6A8):c.708C>T (p.Thr236=)
|
rs782489930
|
0.00001
|
NM_005629.4(SLC6A8):c.709C>T (p.Leu237Phe)
|
rs782587269
|
0.00001
|
NM_005629.4(SLC6A8):c.718C>T (p.Leu240=)
|
rs2091458962
|
0.00001
|
NM_005629.4(SLC6A8):c.768C>T (p.Ser256=)
|
rs1177686940
|
0.00001
|
NM_005629.4(SLC6A8):c.778-7C>T
|
rs782613166
|
0.00001
|
NM_005629.4(SLC6A8):c.786C>T (p.Tyr262=)
|
rs1557044940
|
0.00001
|
NM_005629.4(SLC6A8):c.823C>T (p.Leu275=)
|
rs1557044951
|
0.00001
|
NM_005629.4(SLC6A8):c.913-13G>T
|
rs1176497805
|
0.00001
|
NM_005629.4(SLC6A8):c.913-8T>C
|
rs1557045039
|
0.00001
|
NM_005629.4(SLC6A8):c.951C>T (p.Tyr317=)
|
rs371516458
|
0.00001
|
NM_005629.4(SLC6A8):c.960C>T (p.Gly320=)
|
rs1603216822
|
0.00001
|
NM_005629.4(SLC6A8):c.99G>A (p.Lys33=)
|
rs782436399
|
0.00001
|
NM_005881.4(BCKDK):c.1068T>C (p.Ser356=)
|
rs767003668
|
0.00001
|
NM_005881.4(BCKDK):c.1116G>A (p.Thr372=)
|
rs111551851
|
0.00001
|
NM_005881.4(BCKDK):c.120G>A (p.Val40=)
|
rs933735430
|
0.00001
|
NM_005881.4(BCKDK):c.15G>C (p.Ser5=)
|
rs753378449
|
0.00001
|
NM_005881.4(BCKDK):c.372C>T (p.His124=)
|
rs148112682
|
0.00001
|
NM_005881.4(BCKDK):c.66A>T (p.Gly22=)
|
rs775340971
|
0.00001
|
NM_005881.4(BCKDK):c.717-5C>T
|
rs1291981908
|
0.00001
|
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=)
|
rs147727428
|
0.00001
|
NM_005957.5(MTHFR):c.1062C>T (p.His354=)
|
rs776606131
|
0.00001
|
NM_005957.5(MTHFR):c.1158C>T (p.Asn386=)
|
rs764444752
|
0.00001
|
NM_005957.5(MTHFR):c.1182C>A (p.Ser394=)
|
rs1394785767
|
0.00001
|
NM_005957.5(MTHFR):c.1230C>T (p.Ser410=)
|
rs748977409
|
0.00001
|
NM_005957.5(MTHFR):c.123G>T (p.Arg41=)
|
rs1465286858
|
0.00001
|
NM_005957.5(MTHFR):c.1251G>A (p.Leu417=)
|
rs1448262865
|
0.00001
|
NM_005957.5(MTHFR):c.1308T>C (p.Val436=)
|
rs373524607
|
0.00001
|
NM_005957.5(MTHFR):c.1348-11G>A
|
rs201696223
|
0.00001
|
NM_005957.5(MTHFR):c.1356C>T (p.Cys452=)
|
rs1379967274
|
0.00001
|
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=)
|
rs1428673436
|
0.00001
|
NM_005957.5(MTHFR):c.1383G>A (p.Ala461=)
|
rs199517455
|
0.00001
|
NM_005957.5(MTHFR):c.1449C>T (p.Asn483=)
|
rs1644188320
|
0.00001
|
NM_005957.5(MTHFR):c.1531-5C>T
|
rs563840479
|
0.00001
|
NM_005957.5(MTHFR):c.1531-9C>G
|
rs1433996363
|
0.00001
|
NM_005957.5(MTHFR):c.1539A>G (p.Leu513=)
|
rs1454380592
|
0.00001
|
NM_005957.5(MTHFR):c.1566G>A (p.Ala522=)
|
rs539932473
|
0.00001
|
NM_005957.5(MTHFR):c.157T>C (p.Leu53=)
|
rs1205350004
|
0.00001
|
NM_005957.5(MTHFR):c.1596C>T (p.Tyr532=)
|
rs776430173
|
0.00001
|
NM_005957.5(MTHFR):c.1633-8C>A
|
rs1347437811
|
0.00001
|
NM_005957.5(MTHFR):c.1641C>T (p.Asn547=)
|
rs764655005
|
0.00001
|
NM_005957.5(MTHFR):c.1668G>A (p.Pro556=)
|
rs778486116
|
0.00001
|
NM_005957.5(MTHFR):c.1731C>T (p.Pro577=)
|
rs926145376
|
0.00001
|
NM_005957.5(MTHFR):c.1755C>T (p.Asp585=)
|
rs375119199
|
0.00001
|
NM_005957.5(MTHFR):c.1779G>A (p.Glu593=)
|
rs372169679
|
0.00001
|
NM_005957.5(MTHFR):c.1812G>A (p.Pro604=)
|
rs1407988165
|
0.00001
|
NM_005957.5(MTHFR):c.1839C>T (p.His613=)
|
rs199730437
|
0.00001
|
NM_005957.5(MTHFR):c.1887C>T (p.Asp629=)
|
rs780005836
|
0.00001
|
NM_005957.5(MTHFR):c.1968A>G (p.Pro656=)
|
rs774321998
|
0.00001
|
NM_005957.5(MTHFR):c.198T>A (p.Pro66=)
|
rs1300486433
|
0.00001
|
NM_005957.5(MTHFR):c.237-10C>T
|
rs367693626
|
0.00001
|
NM_005957.5(MTHFR):c.282C>T (p.Thr94=)
|
rs143347952
|
0.00001
|
NM_005957.5(MTHFR):c.294A>T (p.Ala98=)
|
rs1265447449
|
0.00001
|
NM_005957.5(MTHFR):c.321C>T (p.Thr107=)
|
rs769916813
|
0.00001
|
NM_005957.5(MTHFR):c.423T>C (p.His141=)
|
rs1339869041
|
0.00001
|
NM_005957.5(MTHFR):c.522C>T (p.Tyr174=)
|
rs941382680
|
0.00001
|
NM_005957.5(MTHFR):c.534G>A (p.Leu178=)
|
rs746368113
|
0.00001
|
NM_005957.5(MTHFR):c.654G>A (p.Val218=)
|
rs756691180
|
0.00001
|
NM_005957.5(MTHFR):c.660G>A (p.Ala220=)
|
rs141060174
|
0.00001
|
NM_005957.5(MTHFR):c.666C>T (p.Ala222=)
|
rs776956662
|
0.00001
|
NM_005957.5(MTHFR):c.69T>C (p.Ser23=)
|
rs757868254
|
0.00001
|
NM_005957.5(MTHFR):c.735C>T (p.Asp245=)
|
rs941214983
|
0.00001
|
NM_005957.5(MTHFR):c.765G>A (p.Gly255=)
|
rs770611205
|
0.00001
|
NM_005957.5(MTHFR):c.789C>T (p.His263=)
|
rs774637461
|
0.00001
|
NM_005957.5(MTHFR):c.846C>T (p.Asp282=)
|
rs1451895576
|
0.00001
|
NM_005957.5(MTHFR):c.957C>T (p.His319=)
|
rs763699944
|
0.00001
|
NM_005957.5(MTHFR):c.966C>T (p.Thr322=)
|
rs138748774
|
0.00001
|
NM_005957.5(MTHFR):c.969C>T (p.Leu323=)
|
rs769659626
|
0.00001
|
NM_005957.5(MTHFR):c.997C>T (p.Leu333=)
|
rs1318966127
|
0.00001
|
NM_005957.5(MTHFR):c.9C>T (p.Asn3=)
|
rs773463208
|
0.00001
|
NM_006623.4(PHGDH):c.1017G>A (p.Leu339=)
|
rs768115742
|
0.00001
|
NM_006623.4(PHGDH):c.1024C>T (p.Leu342=)
|
rs1416033860
|
0.00001
|
NM_006623.4(PHGDH):c.1041T>G (p.Ala347=)
|
rs1374696914
|
0.00001
|
NM_006623.4(PHGDH):c.1078+20G>T
|
rs988452433
|
0.00001
|
NM_006623.4(PHGDH):c.1079-7T>C
|
rs766319430
|
0.00001
|
NM_006623.4(PHGDH):c.1079-8G>A
|
rs1180990036
|
0.00001
|
NM_006623.4(PHGDH):c.111C>T (p.Ser37=)
|
rs1270606502
|
0.00001
|
NM_006623.4(PHGDH):c.1179T>C (p.Ala393=)
|
rs754034829
|
0.00001
|
NM_006623.4(PHGDH):c.1194A>G (p.Lys398=)
|
rs747965439
|
0.00001
|
NM_006623.4(PHGDH):c.1218C>T (p.Thr406=)
|
rs771737948
|
0.00001
|
NM_006623.4(PHGDH):c.1227C>T (p.Ser409=)
|
rs768582720
|
0.00001
|
NM_006623.4(PHGDH):c.1245G>A (p.Glu415=)
|
rs769982653
|
0.00001
|
NM_006623.4(PHGDH):c.1290C>T (p.Ala430=)
|
rs1393433949
|
0.00001
|
NM_006623.4(PHGDH):c.129G>A (p.Ala43=)
|
rs587623477
|
0.00001
|
NM_006623.4(PHGDH):c.1335G>T (p.Leu445=)
|
rs768496348
|
0.00001
|
NM_006623.4(PHGDH):c.135G>T (p.Leu45=)
|
rs1352826557
|
0.00001
|
NM_006623.4(PHGDH):c.1434G>A (p.Leu478=)
|
rs1420781632
|
0.00001
|
NM_006623.4(PHGDH):c.1447+13C>T
|
rs143612626
|
0.00001
|
NM_006623.4(PHGDH):c.1461G>A (p.Glu487=)
|
rs1005068896
|
0.00001
|
NM_006623.4(PHGDH):c.1500G>C (p.Val500=)
|
rs755921813
|
0.00001
|
NM_006623.4(PHGDH):c.162C>T (p.Arg54=)
|
rs754900737
|
0.00001
|
NM_006623.4(PHGDH):c.180C>T (p.Thr60=)
|
rs769991971
|
0.00001
|
NM_006623.4(PHGDH):c.195C>T (p.Asn65=)
|
rs771208719
|
0.00001
|
NM_006623.4(PHGDH):c.21G>C (p.Arg7=)
|
rs1650717107
|
0.00001
|
NM_006623.4(PHGDH):c.225G>A (p.Arg75=)
|
rs1441422663
|
0.00001
|
NM_006623.4(PHGDH):c.290+17G>A
|
rs375876858
|
0.00001
|
NM_006623.4(PHGDH):c.290+18C>T
|
rs779206688
|
0.00001
|
NM_006623.4(PHGDH):c.291-8A>G
|
rs775356901
|
0.00001
|
NM_006623.4(PHGDH):c.306C>T (p.Asn102=)
|
rs761693145
|
0.00001
|
NM_006623.4(PHGDH):c.357-10A>G
|
rs773131387
|
0.00001
|
NM_006623.4(PHGDH):c.357-8C>T
|
rs762922421
|
0.00001
|
NM_006623.4(PHGDH):c.366C>G (p.Pro122=)
|
rs1210498938
|
0.00001
|
NM_006623.4(PHGDH):c.48C>T (p.Asp16=)
|
rs765678440
|
0.00001
|
NM_006623.4(PHGDH):c.534T>C (p.Ile178=)
|
rs1467975689
|
0.00001
|
NM_006623.4(PHGDH):c.54C>T (p.Cys18=)
|
rs1236966373
|
0.00001
|
NM_006623.4(PHGDH):c.571C>T (p.Leu191=)
|
rs988162080
|
0.00001
|
NM_006623.4(PHGDH):c.582G>A (p.Glu194=)
|
rs751522281
|
0.00001
|
NM_006623.4(PHGDH):c.597C>T (p.Leu199=)
|
rs1337925565
|
0.00001
|
NM_006623.4(PHGDH):c.639G>A (p.Thr213=)
|
rs1489385483
|
0.00001
|
NM_006623.4(PHGDH):c.643+7G>A
|
rs943894952
|
0.00001
|
NM_006623.4(PHGDH):c.67T>C (p.Leu23=)
|
rs1650719894
|
0.00001
|
NM_006623.4(PHGDH):c.684G>A (p.Gly228=)
|
rs745471026
|
0.00001
|
NM_006623.4(PHGDH):c.732C>T (p.Ala244=)
|
rs767968310
|
0.00001
|
NM_006623.4(PHGDH):c.75T>C (p.Asp25=)
|
rs752195785
|
0.00001
|
NM_006623.4(PHGDH):c.765C>T (p.Ala255=)
|
rs138939987
|
0.00001
|
NM_006623.4(PHGDH):c.774A>G (p.Ala258=)
|
rs587668968
|
0.00001
|
NM_006623.4(PHGDH):c.786T>C (p.Phe262=)
|
rs1221851702
|
0.00001
|
NM_006623.4(PHGDH):c.798G>A (p.Pro266=)
|
rs761104723
|
0.00001
|
NM_006623.4(PHGDH):c.81G>C (p.Gly27=)
|
rs1157171557
|
0.00001
|
NM_006623.4(PHGDH):c.849C>T (p.His283=)
|
rs1651976766
|
0.00001
|
NM_006623.4(PHGDH):c.882C>T (p.Arg294=)
|
rs778794269
|
0.00001
|
NM_006623.4(PHGDH):c.90G>C (p.Val30=)
|
rs376722247
|
0.00001
|
NM_006623.4(PHGDH):c.927G>A (p.Gly309=)
|
rs1232037305
|
0.00001
|
NM_006623.4(PHGDH):c.945+15C>T
|
rs1244270161
|
0.00001
|
NM_006623.4(PHGDH):c.946-11A>G
|
rs1003480319
|
0.00001
|
NM_006623.4(PHGDH):c.946-20C>T
|
rs202074277
|
0.00001
|
NM_006623.4(PHGDH):c.946-6C>T
|
rs199629505
|
0.00001
|
NM_006859.4(LIAS):c.1029T>C (p.Thr343=)
|
rs777324779
|
0.00001
|
NM_006859.4(LIAS):c.138A>G (p.Gln46=)
|
rs1040093656
|
0.00001
|
NM_006859.4(LIAS):c.186T>C (p.Tyr62=)
|
rs1166998501
|
0.00001
|
NM_006859.4(LIAS):c.18G>A (p.Gly6=)
|
rs774040503
|
0.00001
|
NM_006859.4(LIAS):c.24A>G (p.Ala8=)
|
rs750426614
|
0.00001
|
NM_006859.4(LIAS):c.330A>T (p.Arg110=)
|
rs757501311
|
0.00001
|
NM_006859.4(LIAS):c.378C>T (p.Ala126=)
|
rs1190479485
|
0.00001
|
NM_006859.4(LIAS):c.387G>A (p.Thr129=)
|
rs746196972
|
0.00001
|
NM_006859.4(LIAS):c.405C>T (p.Asp135=)
|
rs1458548365
|
0.00001
|
NM_006859.4(LIAS):c.529C>T (p.Leu177=)
|
rs750168413
|
0.00001
|
NM_006859.4(LIAS):c.608+13G>A
|
rs1003800399
|
0.00001
|
NM_006859.4(LIAS):c.69C>T (p.Ser23=)
|
rs946086496
|
0.00001
|
NM_006859.4(LIAS):c.737+10T>G
|
rs773328488
|
0.00001
|
NM_006859.4(LIAS):c.737+8C>T
|
rs984126692
|
0.00001
|
NM_006859.4(LIAS):c.738-9G>A
|
rs1256747817
|
0.00001
|
NM_006859.4(LIAS):c.789A>G (p.Lys263=)
|
rs1234796638
|
0.00001
|
NM_006859.4(LIAS):c.81G>A (p.Pro27=)
|
rs760501971
|
0.00001
|
NM_006859.4(LIAS):c.867A>G (p.Val289=)
|
rs745794858
|
0.00001
|
NM_006859.4(LIAS):c.883+17A>G
|
rs768249393
|
0.00001
|
NM_006859.4(LIAS):c.884-18G>A
|
rs754933240
|
0.00001
|
NM_006859.4(LIAS):c.884-4A>G
|
rs1182861876
|
0.00001
|
NM_006859.4(LIAS):c.884-5T>A
|
rs374449188
|
0.00001
|
NM_006859.4(LIAS):c.916T>C (p.Leu306=)
|
rs779455306
|
0.00001
|
NM_012213.3(MLYCD):c.1191G>A (p.Pro397=)
|
rs753701525
|
0.00001
|
NM_012213.3(MLYCD):c.1194G>C (p.Leu398=)
|
rs752228353
|
0.00001
|
NM_012213.3(MLYCD):c.1206C>T (p.Cys402=)
|
rs749679659
|
0.00001
|
NM_012213.3(MLYCD):c.1329C>T (p.Gly443=)
|
rs1240849577
|
0.00001
|
NM_012213.3(MLYCD):c.1347C>T (p.Gly449=)
|
rs778137956
|
0.00001
|
NM_012213.3(MLYCD):c.1428C>G (p.Ala476=)
|
rs570304882
|
0.00001
|
NM_012213.3(MLYCD):c.166C>T (p.Leu56=)
|
rs1265969148
|
0.00001
|
NM_012213.3(MLYCD):c.225C>T (p.Tyr75=)
|
rs528074239
|
0.00001
|
NM_012213.3(MLYCD):c.282C>T (p.Gly94=)
|
rs550726820
|
0.00001
|
NM_012213.3(MLYCD):c.426C>T (p.His142=)
|
rs923281597
|
0.00001
|
NM_012213.3(MLYCD):c.432C>T (p.Ile144=)
|
rs944533152
|
0.00001
|
NM_012213.3(MLYCD):c.453G>A (p.Val151=)
|
rs766316428
|
0.00001
|
NM_012213.3(MLYCD):c.501C>G (p.Leu167=)
|
rs1003003517
|
0.00001
|
NM_012213.3(MLYCD):c.576C>T (p.Ser192=)
|
rs1399745223
|
0.00001
|
NM_012213.3(MLYCD):c.642-16A>G
|
rs548228436
|
0.00001
|
NM_012213.3(MLYCD):c.799-4C>T
|
rs1434940922
|
0.00001
|
NM_012213.3(MLYCD):c.948+7G>A
|
rs768723084
|
0.00001
|
NM_012213.3(MLYCD):c.961C>T (p.His321Tyr)
|
rs762720529
|
0.00001
|
NM_014251.3(SLC25A13):c.1019-6T>C
|
rs1207471194
|
0.00001
|
NM_014251.3(SLC25A13):c.1047C>T (p.Ile349=)
|
rs768322999
|
0.00001
|
NM_014251.3(SLC25A13):c.1083A>T (p.Ser361=)
|
rs202177210
|
0.00001
|
NM_014251.3(SLC25A13):c.108C>T (p.Ser36=)
|
rs896670252
|
0.00001
|
NM_014251.3(SLC25A13):c.1177+8C>T
|
rs1410802687
|
0.00001
|
NM_014251.3(SLC25A13):c.1185G>A (p.Leu395=)
|
rs1794001316
|
0.00001
|
NM_014251.3(SLC25A13):c.1197G>A (p.Leu399=)
|
rs373876605
|
0.00001
|
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=)
|
rs747257110
|
0.00001
|
NM_014251.3(SLC25A13):c.12C>T (p.Ala4=)
|
rs961482670
|
0.00001
|
NM_014251.3(SLC25A13):c.1311+8C>G
|
rs1415795866
|
0.00001
|
NM_014251.3(SLC25A13):c.1392T>G (p.Thr464=)
|
rs770856997
|
0.00001
|
NM_014251.3(SLC25A13):c.1453-5T>C
|
rs1339556280
|
0.00001
|
NM_014251.3(SLC25A13):c.1494C>T (p.Ala498=)
|
rs1405058189
|
0.00001
|
NM_014251.3(SLC25A13):c.1560A>G (p.Pro520=)
|
rs1792040995
|
0.00001
|
NM_014251.3(SLC25A13):c.1566C>T (p.Ser522=)
|
rs771908277
|
0.00001
|
NM_014251.3(SLC25A13):c.1591+10C>A
|
rs1457922451
|
0.00001
|
NM_014251.3(SLC25A13):c.1592-4G>A
|
rs1283658557
|
0.00001
|
NM_014251.3(SLC25A13):c.1592-6C>T
|
rs1380040472
|
0.00001
|
NM_014251.3(SLC25A13):c.1593T>C (p.Gly531=)
|
rs1347392751
|
0.00001
|
NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=)
|
rs199735534
|
0.00001
|
NM_014251.3(SLC25A13):c.1750+8A>T
|
rs749637750
|
0.00001
|
NM_014251.3(SLC25A13):c.1751-12A>G
|
rs759064910
|
0.00001
|
NM_014251.3(SLC25A13):c.1751-14C>T
|
rs11762136
|
0.00001
|
NM_014251.3(SLC25A13):c.1751-29A>G
|
rs778800045
|
0.00001
|
NM_014251.3(SLC25A13):c.1800C>T (p.Tyr600=)
|
rs765919667
|
0.00001
|
NM_014251.3(SLC25A13):c.1824C>T (p.Tyr608=)
|
rs1053861538
|
0.00001
|
NM_014251.3(SLC25A13):c.1896G>A (p.Pro632=)
|
rs764388459
|
0.00001
|
NM_014251.3(SLC25A13):c.1917C>T (p.Gly639=)
|
rs769610597
|
0.00001
|
NM_014251.3(SLC25A13):c.1986G>A (p.Lys662=)
|
rs778545092
|
0.00001
|
NM_014251.3(SLC25A13):c.225T>C (p.Phe75=)
|
rs1796689041
|
0.00001
|
NM_014251.3(SLC25A13):c.255G>A (p.Leu85=)
|
rs369071668
|
0.00001
|
NM_014251.3(SLC25A13):c.354G>A (p.Gln118=)
|
rs1333222363
|
0.00001
|
NM_014251.3(SLC25A13):c.45T>C (p.Ala15=)
|
rs142466552
|
0.00001
|
NM_014251.3(SLC25A13):c.507A>G (p.Gln169=)
|
rs757796108
|
0.00001
|
NM_014251.3(SLC25A13):c.528G>C (p.Gly176=)
|
rs769565327
|
0.00001
|
NM_014251.3(SLC25A13):c.558C>T (p.Ile186=)
|
rs181615775
|
0.00001
|
NM_014251.3(SLC25A13):c.570C>T (p.Ile190=)
|
rs1794922644
|
0.00001
|
NM_014251.3(SLC25A13):c.582C>T (p.Val194=)
|
rs1311802793
|
0.00001
|
NM_014251.3(SLC25A13):c.606T>C (p.Cys202=)
|
rs957746607
|
0.00001
|
NM_014251.3(SLC25A13):c.609A>G (p.Leu203=)
|
rs751566503
|
0.00001
|
NM_014251.3(SLC25A13):c.666A>C (p.Gly222=)
|
rs200838637
|
0.00001
|
NM_014251.3(SLC25A13):c.720G>A (p.Leu240=)
|
rs545794488
|
0.00001
|
NM_014251.3(SLC25A13):c.755-6A>G
|
rs747352641
|
0.00001
|
NM_014251.3(SLC25A13):c.75A>G (p.Ala25=)
|
rs1024088586
|
0.00001
|
NM_014251.3(SLC25A13):c.768G>A (p.Leu256=)
|
rs772252278
|
0.00001
|
NM_014251.3(SLC25A13):c.80T>G (p.Ile27Ser)
|
rs774203119
|
0.00001
|
NM_014251.3(SLC25A13):c.822G>A (p.Gln274=)
|
rs1322261920
|
0.00001
|
NM_014251.3(SLC25A13):c.849-8C>T
|
rs927032469
|
0.00001
|
NM_014251.3(SLC25A13):c.849-9C>G
|
rs775803606
|
0.00001
|
NM_014251.3(SLC25A13):c.84G>A (p.Glu28=)
|
rs770435848
|
0.00001
|
NM_014251.3(SLC25A13):c.906C>T (p.Pro302=)
|
rs1794753359
|
0.00001
|
NM_014251.3(SLC25A13):c.90C>T (p.Asn30=)
|
rs777148254
|
0.00001
|
NM_014251.3(SLC25A13):c.933+10G>T
|
rs774663950
|
0.00001
|
NM_014251.3(SLC25A13):c.984G>A (p.Ser328=)
|
rs760851084
|
0.00001
|
NM_014251.3(SLC25A13):c.987C>G (p.Ala329=)
|
rs1469897135
|
0.00001
|
NM_014251.3(SLC25A13):c.999T>G (p.Gly333=)
|
rs748986342
|
0.00001
|
NM_014252.4(SLC25A15):c.177C>A (p.Gly59=)
|
rs1057519112
|
0.00001
|
NM_014252.4(SLC25A15):c.18T>C (p.Ala6=)
|
rs573033866
|
0.00001
|
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=)
|
rs765380976
|
0.00001
|
NM_014252.4(SLC25A15):c.282A>G (p.Lys94=)
|
rs761843636
|
0.00001
|
NM_014252.4(SLC25A15):c.372C>G (p.Leu124=)
|
rs1305315510
|
0.00001
|
NM_014252.4(SLC25A15):c.400C>T (p.Leu134=)
|
rs1882124544
|
0.00001
|
NM_014252.4(SLC25A15):c.402G>A (p.Leu134=)
|
rs1593294212
|
0.00001
|
NM_014252.4(SLC25A15):c.452+11C>G
|
rs780976780
|
0.00001
|
NM_014252.4(SLC25A15):c.453-10C>G
|
rs745823100
|
0.00001
|
NM_014252.4(SLC25A15):c.453-5C>T
|
rs748169316
|
0.00001
|
NM_014252.4(SLC25A15):c.55+8C>A
|
rs1280804783
|
0.00001
|
NM_014252.4(SLC25A15):c.555C>T (p.Phe185=)
|
rs1489139087
|
0.00001
|
NM_014252.4(SLC25A15):c.744A>G (p.Gly248=)
|
rs1372683295
|
0.00001
|
NM_014252.4(SLC25A15):c.782-17G>A
|
rs375356896
|
0.00001
|
NM_014252.4(SLC25A15):c.78C>T (p.Thr26=)
|
rs1450925149
|
0.00001
|
NM_014252.4(SLC25A15):c.805C>T (p.Leu269=)
|
rs1397426904
|
0.00001
|
NM_014252.4(SLC25A15):c.81G>A (p.Gly27=)
|
rs1395458736
|
0.00001
|
NM_014252.4(SLC25A15):c.846A>G (p.Ala282=)
|
rs751245001
|
0.00001
|
NM_014252.4(SLC25A15):c.864A>G (p.Glu288=)
|
rs756808391
|
0.00001
|
NM_014252.4(SLC25A15):c.873G>A (p.Arg291=)
|
rs769268831
|
0.00001
|
NM_014362.4(HIBCH):c.153A>G (p.Leu51=)
|
rs768948062
|
0.00001
|
NM_014362.4(HIBCH):c.196C>A (p.Arg66=)
|
rs757976755
|
0.00001
|
NM_014362.4(HIBCH):c.892-18A>C
|
rs113980003
|
0.00001
|
NM_014362.4(HIBCH):c.897T>C (p.Ile299=)
|
rs763947247
|
0.00001
|
NM_014384.3(ACAD8):c.734C>T (p.Ala245Val)
|
rs780609527
|
0.00001
|
NM_015506.3(MMACHC):c.114C>T (p.Ala38=)
|
rs372262322
|
0.00001
|
NM_015506.3(MMACHC):c.159C>T (p.Leu53=)
|
rs371927733
|
0.00001
|
NM_015506.3(MMACHC):c.180C>T (p.Asp60=)
|
rs535215325
|
0.00001
|
NM_015506.3(MMACHC):c.199T>C (p.Leu67=)
|
rs1272042617
|
0.00001
|
NM_015506.3(MMACHC):c.213C>T (p.His71=)
|
rs746112343
|
0.00001
|
NM_015506.3(MMACHC):c.258T>C (p.His86=)
|
rs1005452717
|
0.00001
|
NM_015506.3(MMACHC):c.276+10G>A
|
rs1229858789
|
0.00001
|
NM_015506.3(MMACHC):c.282C>T (p.Leu94=)
|
rs751229877
|
0.00001
|
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn)
|
rs563710045
|
0.00001
|
NM_015506.3(MMACHC):c.423G>A (p.Gly141=)
|
rs1035201847
|
0.00001
|
NM_015506.3(MMACHC):c.477C>T (p.Ala159=)
|
rs747698015
|
0.00001
|
NM_015506.3(MMACHC):c.48A>G (p.Leu16=)
|
rs1366120426
|
0.00001
|
NM_015506.3(MMACHC):c.520C>T (p.Leu174=)
|
rs1298700969
|
0.00001
|
NM_015506.3(MMACHC):c.570C>T (p.Ile190=)
|
rs769162698
|
0.00001
|
NM_015506.3(MMACHC):c.633C>T (p.Pro211=)
|
rs577804554
|
0.00001
|
NM_015506.3(MMACHC):c.636G>A (p.Gln212=)
|
rs774357624
|
0.00001
|
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)
|
rs369621922
|
0.00001
|
NM_015506.3(MMACHC):c.696C>T (p.Ala232=)
|
rs767496391
|
0.00001
|
NM_015506.3(MMACHC):c.726G>A (p.Lys242=)
|
rs750002717
|
0.00001
|
NM_015506.3(MMACHC):c.72C>T (p.Tyr24=)
|
rs755881820
|
0.00001
|
NM_015506.3(MMACHC):c.75C>A (p.Pro25=)
|
rs749003802
|
0.00001
|
NM_015506.3(MMACHC):c.771C>G (p.Pro257=)
|
rs376037114
|
0.00001
|
NM_015506.3(MMACHC):c.792C>T (p.Ser264=)
|
rs1458150108
|
0.00001
|
NM_015506.3(MMACHC):c.804C>T (p.Ser268=)
|
rs941778714
|
0.00001
|
NM_015506.3(MMACHC):c.828A>G (p.Pro276=)
|
rs1288893138
|
0.00001
|
NM_015509.4(NECAP1):c.13T>C (p.Leu5=)
|
rs780897889
|
0.00001
|
NM_015509.4(NECAP1):c.197-12C>T
|
rs753873119
|
0.00001
|
NM_015509.4(NECAP1):c.301+14G>A
|
rs758362815
|
0.00001
|
NM_015509.4(NECAP1):c.302-13A>G
|
rs776765650
|
0.00001
|
NM_015509.4(NECAP1):c.39G>T (p.Val13=)
|
rs1947446999
|
0.00001
|
NM_015509.4(NECAP1):c.516T>C (p.Gly172=)
|
rs748624358
|
0.00001
|
NM_015509.4(NECAP1):c.546G>A (p.Gly182=)
|
rs1327798217
|
0.00001
|
NM_015509.4(NECAP1):c.648G>A (p.Pro216=)
|
rs370869772
|
0.00001
|
NM_015509.4(NECAP1):c.95+11C>T
|
rs1390115604
|
0.00001
|
NM_015509.4(NECAP1):c.95+16C>T
|
rs372167429
|
0.00001
|
NM_015662.3(IFT172):c.108G>A (p.Val36=)
|
rs1251466028
|
0.00001
|
NM_015662.3(IFT172):c.1092A>G (p.Gly364=)
|
rs575297457
|
0.00001
|
NM_015662.3(IFT172):c.1242C>T (p.Ala414=)
|
rs970385102
|
0.00001
|
NM_015662.3(IFT172):c.1314C>G (p.Pro438=)
|
rs1435972299
|
0.00001
|
NM_015662.3(IFT172):c.1371G>A (p.Lys457=)
|
rs759436301
|
0.00001
|
NM_015662.3(IFT172):c.1411+17C>T
|
rs1333168893
|
0.00001
|
NM_015662.3(IFT172):c.141A>G (p.Gly47=)
|
rs759962675
|
0.00001
|
NM_015662.3(IFT172):c.1443C>T (p.Thr481=)
|
rs780600337
|
0.00001
|
NM_015662.3(IFT172):c.1512C>T (p.Asp504=)
|
rs746321444
|
0.00001
|
NM_015662.3(IFT172):c.1572C>T (p.Asn524=)
|
rs1208242658
|
0.00001
|
NM_015662.3(IFT172):c.1719C>T (p.Gly573=)
|
rs373009930
|
0.00001
|
NM_015662.3(IFT172):c.1731C>G (p.Thr577=)
|
rs369849820
|
0.00001
|
NM_015662.3(IFT172):c.1773A>G (p.Thr591=)
|
rs1415381763
|
0.00001
|
NM_015662.3(IFT172):c.183+7A>G
|
rs1357322553
|
0.00001
|
NM_015662.3(IFT172):c.1929T>C (p.Ile643=)
|
rs375541145
|
0.00001
|
NM_015662.3(IFT172):c.1935G>A (p.Glu645=)
|
rs755341436
|
0.00001
|
NM_015662.3(IFT172):c.2022+13C>T
|
rs905264258
|
0.00001
|
NM_015662.3(IFT172):c.2022+7A>G
|
rs773433922
|
0.00001
|
NM_015662.3(IFT172):c.2023-18C>T
|
rs780624216
|
0.00001
|
NM_015662.3(IFT172):c.2023-7C>T
|
rs758190461
|
0.00001
|
NM_015662.3(IFT172):c.2025C>T (p.Gly675=)
|
rs762659921
|
0.00001
|
NM_015662.3(IFT172):c.2115+15G>A
|
rs764321777
|
0.00001
|
NM_015662.3(IFT172):c.2127G>A (p.Glu709=)
|
rs752839444
|
0.00001
|
NM_015662.3(IFT172):c.2175C>T (p.Ile725=)
|
rs535676099
|
0.00001
|
NM_015662.3(IFT172):c.2208G>A (p.Leu736=)
|
rs1235366375
|
0.00001
|
NM_015662.3(IFT172):c.2427G>A (p.Gly809=)
|
rs760908963
|
0.00001
|
NM_015662.3(IFT172):c.2442+13C>T
|
rs749766704
|
0.00001
|
NM_015662.3(IFT172):c.2601G>A (p.Gln867=)
|
rs1406843732
|
0.00001
|
NM_015662.3(IFT172):c.2634C>T (p.Ile878=)
|
rs761022629
|
0.00001
|
NM_015662.3(IFT172):c.2643-18C>A
|
rs922995821
|
0.00001
|
NM_015662.3(IFT172):c.270C>A (p.Ile90=)
|
rs759058747
|
0.00001
|
NM_015662.3(IFT172):c.2724G>A (p.Arg908=)
|
rs367662405
|
0.00001
|
NM_015662.3(IFT172):c.2751C>T (p.Leu917=)
|
rs777958898
|
0.00001
|
NM_015662.3(IFT172):c.2796G>A (p.Glu932=)
|
rs566830176
|
0.00001
|
NM_015662.3(IFT172):c.2919A>G (p.Leu973=)
|
rs1480327016
|
0.00001
|
NM_015662.3(IFT172):c.2975+8G>A
|
rs750348734
|
0.00001
|
NM_015662.3(IFT172):c.2982T>C (p.Tyr994=)
|
rs757083011
|
0.00001
|
NM_015662.3(IFT172):c.3103C>T (p.Leu1035=)
|
rs1029240622
|
0.00001
|
NM_015662.3(IFT172):c.336+20C>G
|
rs1412070265
|
0.00001
|
NM_015662.3(IFT172):c.337-11C>T
|
rs745921292
|
0.00001
|
NM_015662.3(IFT172):c.3387G>A (p.Ala1129=)
|
rs369025741
|
0.00001
|
NM_015662.3(IFT172):c.3465+10T>C
|
rs780429245
|
0.00001
|
NM_015662.3(IFT172):c.3465+9G>A
|
rs1665997491
|
0.00001
|
NM_015662.3(IFT172):c.3530+11C>G
|
rs777469179
|
0.00001
|
NM_015662.3(IFT172):c.3531-11C>A
|
rs1489039902
|
0.00001
|
NM_015662.3(IFT172):c.354G>A (p.Leu118=)
|
rs757988462
|
0.00001
|
NM_015662.3(IFT172):c.3582C>T (p.His1194=)
|
rs376037251
|
0.00001
|
NM_015662.3(IFT172):c.3615A>G (p.Gly1205=)
|
rs768132019
|
0.00001
|
NM_015662.3(IFT172):c.363G>A (p.Pro121=)
|
rs761759245
|
0.00001
|
NM_015662.3(IFT172):c.3732C>T (p.Asp1244=)
|
rs370204045
|
0.00001
|
NM_015662.3(IFT172):c.3756T>C (p.Tyr1252=)
|
rs759026392
|
0.00001
|
NM_015662.3(IFT172):c.3769C>T (p.Leu1257=)
|
rs373382907
|
0.00001
|
NM_015662.3(IFT172):c.3821+20G>T
|
rs747215115
|
0.00001
|
NM_015662.3(IFT172):c.3822-19A>T
|
rs1204452162
|
0.00001
|
NM_015662.3(IFT172):c.3924C>T (p.Ser1308=)
|
rs764778967
|
0.00001
|
NM_015662.3(IFT172):c.3927C>T (p.Gly1309=)
|
rs768633686
|
0.00001
|
NM_015662.3(IFT172):c.3984C>T (p.Pro1328=)
|
rs1384062308
|
0.00001
|
NM_015662.3(IFT172):c.40-10G>T
|
rs769327900
|
0.00001
|
NM_015662.3(IFT172):c.4014A>G (p.Val1338=)
|
rs527544045
|
0.00001
|
NM_015662.3(IFT172):c.4095C>T (p.Ile1365=)
|
rs747729113
|
0.00001
|
NM_015662.3(IFT172):c.4134G>A (p.Lys1378=)
|
rs1039315733
|
0.00001
|
NM_015662.3(IFT172):c.4230G>A (p.Val1410=)
|
rs145041736
|
0.00001
|
NM_015662.3(IFT172):c.4248T>C (p.Ala1416=)
|
rs754200053
|
0.00001
|
NM_015662.3(IFT172):c.42T>C (p.Asp14=)
|
rs1668694687
|
0.00001
|
NM_015662.3(IFT172):c.4312-10C>T
|
rs767163406
|
0.00001
|
NM_015662.3(IFT172):c.4312-9C>T
|
rs1665420944
|
0.00001
|
NM_015662.3(IFT172):c.4539+11G>A
|
rs756814532
|
0.00001
|
NM_015662.3(IFT172):c.4539+18C>T
|
rs771718287
|
0.00001
|
NM_015662.3(IFT172):c.4540-13C>T
|
rs1665265846
|
0.00001
|
NM_015662.3(IFT172):c.4540-20G>T
|
rs538748702
|
0.00001
|
NM_015662.3(IFT172):c.4611C>T (p.Ile1537=)
|
rs901644807
|
0.00001
|
NM_015662.3(IFT172):c.4659+18G>A
|
rs757297478
|
0.00001
|
NM_015662.3(IFT172):c.4878C>T (p.Pro1626=)
|
rs773180868
|
0.00001
|
NM_015662.3(IFT172):c.4893C>A (p.Leu1631=)
|
rs1237678953
|
0.00001
|
NM_015662.3(IFT172):c.5010C>T (p.Tyr1670=)
|
rs1459018703
|
0.00001
|
NM_015662.3(IFT172):c.5050C>T (p.Leu1684=)
|
rs1350772419
|
0.00001
|
NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys)
|
rs868748622
|
0.00001
|
NM_015662.3(IFT172):c.516A>G (p.Ala172=)
|
rs1302439397
|
0.00001
|
NM_015662.3(IFT172):c.570+19G>A
|
rs761066634
|
0.00001
|
NM_015662.3(IFT172):c.582T>C (p.Val194=)
|
rs533475435
|
0.00001
|
NM_015662.3(IFT172):c.591G>A (p.Pro197=)
|
rs747654101
|
0.00001
|
NM_015662.3(IFT172):c.690A>G (p.Gln230=)
|
rs892639684
|
0.00001
|
NM_015662.3(IFT172):c.6C>T (p.His2=)
|
rs1430470069
|
0.00001
|
NM_015662.3(IFT172):c.786-15C>T
|
rs200145274
|
0.00001
|
NM_015662.3(IFT172):c.786-16A>G
|
rs769974669
|
0.00001
|
NM_015662.3(IFT172):c.798C>T (p.Phe266=)
|
rs755850960
|
0.00001
|
NM_015662.3(IFT172):c.909+12G>C
|
rs752407974
|
0.00001
|
NM_015662.3(IFT172):c.936G>A (p.Gln312=)
|
rs139291216
|
0.00001
|
NM_015702.3(MMADHC):c.117G>A (p.Ser39=)
|
rs1448387303
|
0.00001
|
NM_015702.3(MMADHC):c.237T>C (p.Gly79=)
|
rs763521620
|
0.00001
|
NM_015702.3(MMADHC):c.372+7T>C
|
rs368516017
|
0.00001
|
NM_015702.3(MMADHC):c.373-16T>C
|
rs754844727
|
0.00001
|
NM_015702.3(MMADHC):c.373-8C>A
|
rs766361763
|
0.00001
|
NM_015702.3(MMADHC):c.432C>G (p.Ala144=)
|
rs1478523517
|
0.00001
|
NM_015702.3(MMADHC):c.466T>C (p.Leu156=)
|
rs778778537
|
0.00001
|
NM_015702.3(MMADHC):c.561T>G (p.Thr187=)
|
rs1282238457
|
0.00001
|
NM_015702.3(MMADHC):c.585T>C (p.Ile195=)
|
rs757784250
|
0.00001
|
NM_015702.3(MMADHC):c.624T>C (p.Ala208=)
|
rs1485998377
|
0.00001
|
NM_015702.3(MMADHC):c.660T>C (p.Tyr220=)
|
rs1427942673
|
0.00001
|
NM_015702.3(MMADHC):c.765T>C (p.Ser255=)
|
rs376860199
|
0.00001
|
NM_015702.3(MMADHC):c.828A>G (p.Val276=)
|
rs937318527
|
0.00001
|
NM_015702.3(MMADHC):c.855A>T (p.Pro285=)
|
rs768988562
|
0.00001
|
NM_015702.3(MMADHC):c.9+12A>C
|
rs570608507
|
0.00001
|
NM_016335.6(PRODH):c.1427+8G>T
|
rs765272958
|
0.00001
|
NM_016335.6(PRODH):c.1659C>T (p.Pro553=)
|
rs778275329
|
0.00001
|
NM_016579.4(CD320):c.143-9A>G
|
rs779568253
|
0.00001
|
NM_016579.4(CD320):c.210C>T (p.Leu70=)
|
rs780676013
|
0.00001
|
NM_016579.4(CD320):c.306G>A (p.Pro102=)
|
rs755073624
|
0.00001
|
NM_016579.4(CD320):c.459C>T (p.Asp153=)
|
rs750510195
|
0.00001
|
NM_018368.4(LMBRD1):c.1017T>C (p.Ser339=)
|
rs558926049
|
0.00001
|
NM_018368.4(LMBRD1):c.1404A>T (p.Ala468=)
|
rs1382933312
|
0.00001
|
NM_018368.4(LMBRD1):c.1417+9A>G
|
rs763882735
|
0.00001
|
NM_018368.4(LMBRD1):c.1418-20T>A
|
rs758519179
|
0.00001
|
NM_018368.4(LMBRD1):c.1510-19G>A
|
rs1484305691
|
0.00001
|
NM_018368.4(LMBRD1):c.1605C>G (p.Pro535=)
|
rs771408766
|
0.00001
|
NM_018368.4(LMBRD1):c.247-4C>T
|
rs1321930777
|
0.00001
|
NM_018368.4(LMBRD1):c.291A>G (p.Val97=)
|
rs752864942
|
0.00001
|
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
|
rs747318789
|
0.00001
|
NM_018706.7(DHTKD1):c.102G>A (p.Arg34=)
|
rs766251442
|
0.00001
|
NM_018706.7(DHTKD1):c.1257C>T (p.Phe419=)
|
rs775165668
|
0.00001
|
NM_018706.7(DHTKD1):c.1358+19G>A
|
rs760227108
|
0.00001
|
NM_018706.7(DHTKD1):c.1358+20T>C
|
rs766003951
|
0.00001
|
NM_018706.7(DHTKD1):c.1358+9A>G
|
rs1270166462
|
0.00001
|
NM_018706.7(DHTKD1):c.1371C>T (p.Ser457=)
|
rs760150534
|
0.00001
|
NM_018706.7(DHTKD1):c.1533C>T (p.Gly511=)
|
rs372588654
|
0.00001
|
NM_018706.7(DHTKD1):c.154+20C>A
|
rs1183216028
|
0.00001
|
NM_018706.7(DHTKD1):c.1557C>T (p.Ile519=)
|
rs759650263
|
0.00001
|
NM_018706.7(DHTKD1):c.1581C>T (p.Pro527=)
|
rs1588612349
|
0.00001
|
NM_018706.7(DHTKD1):c.1839G>A (p.Thr613=)
|
rs202019251
|
0.00001
|
NM_018706.7(DHTKD1):c.1980G>T (p.Leu660=)
|
rs1050041160
|
0.00001
|
NM_018706.7(DHTKD1):c.2412C>A (p.Thr804=)
|
rs765729432
|
0.00001
|
NM_018706.7(DHTKD1):c.243C>T (p.Ala81=)
|
rs375541349
|
0.00001
|
NM_018706.7(DHTKD1):c.255T>C (p.Asn85=)
|
rs755459607
|
0.00001
|
NM_018706.7(DHTKD1):c.2667G>A (p.Leu889=)
|
rs781702712
|
0.00001
|
NM_018706.7(DHTKD1):c.408A>G (p.Gln136=)
|
rs1161663539
|
0.00001
|
NM_018706.7(DHTKD1):c.495T>C (p.His165=)
|
rs1298715789
|
0.00001
|
NM_018706.7(DHTKD1):c.522+11G>T
|
rs771751313
|
0.00001
|
NM_018706.7(DHTKD1):c.600C>T (p.Gly200=)
|
rs752556444
|
0.00001
|
NM_018706.7(DHTKD1):c.906C>T (p.Arg302=)
|
rs779076881
|
0.00001
|
NM_020166.5(MCCC1):c.1023A>G (p.Gln341=)
|
rs773895702
|
0.00001
|
NM_020166.5(MCCC1):c.1089A>G (p.Ala363=)
|
rs746900508
|
0.00001
|
NM_020166.5(MCCC1):c.1203A>G (p.Pro401=)
|
rs777766730
|
0.00001
|
NM_020166.5(MCCC1):c.1221T>G (p.Thr407=)
|
rs781302711
|
0.00001
|
NM_020166.5(MCCC1):c.1272C>T (p.Asp424=)
|
rs779316162
|
0.00001
|
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)
|
rs763713221
|
0.00001
|
NM_020166.5(MCCC1):c.1377+18G>A
|
rs1373677740
|
0.00001
|
NM_020166.5(MCCC1):c.1386A>G (p.Gly462=)
|
rs780740389
|
0.00001
|
NM_020166.5(MCCC1):c.1401T>C (p.Ile467=)
|
rs763803301
|
0.00001
|
NM_020166.5(MCCC1):c.1569C>T (p.Thr523=)
|
rs746494126
|
0.00001
|
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
|
rs747015041
|
0.00001
|
NM_020166.5(MCCC1):c.1764T>C (p.Asn588=)
|
rs200025893
|
0.00001
|
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn)
|
rs569721834
|
0.00001
|
NM_020166.5(MCCC1):c.1827G>A (p.Ala609=)
|
rs769042107
|
0.00001
|
NM_020166.5(MCCC1):c.1833G>T (p.Leu611=)
|
rs747354023
|
0.00001
|
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=)
|
rs201782543
|
0.00001
|
NM_020166.5(MCCC1):c.183C>T (p.Ala61=)
|
rs756447790
|
0.00001
|
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
|
rs758827154
|
0.00001
|
NM_020166.5(MCCC1):c.1858C>T (p.Leu620=)
|
rs1382492613
|
0.00001
|
NM_020166.5(MCCC1):c.189G>A (p.Arg63=)
|
rs753180751
|
0.00001
|
NM_020166.5(MCCC1):c.2049+10T>C
|
rs1233685852
|
0.00001
|
NM_020166.5(MCCC1):c.2082A>G (p.Val694=)
|
rs765720892
|
0.00001
|
NM_020166.5(MCCC1):c.2085G>A (p.Lys695=)
|
rs762296041
|
0.00001
|
NM_020166.5(MCCC1):c.2136C>T (p.Val712=)
|
rs984881958
|
0.00001
|
NM_020166.5(MCCC1):c.2172G>A (p.Ser724=)
|
rs781286566
|
0.00001
|
NM_020166.5(MCCC1):c.492-4A>G
|
rs908545297
|
0.00001
|
NM_020166.5(MCCC1):c.492-6C>T
|
rs746685018
|
0.00001
|
NM_020166.5(MCCC1):c.492-7T>C
|
rs768336115
|
0.00001
|
NM_020166.5(MCCC1):c.6G>A (p.Ala2=)
|
rs768348047
|
0.00001
|
NM_020166.5(MCCC1):c.89+20C>T
|
rs749164963
|
0.00001
|
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)
|
rs1191355416
|
0.00001
|
NM_020686.6(ABAT):c.1005G>A (p.Thr335=)
|
rs557375445
|
0.00001
|
NM_020686.6(ABAT):c.1089C>T (p.Gly363=)
|
rs767008763
|
0.00001
|
NM_020686.6(ABAT):c.1125C>G (p.Pro375=)
|
rs755056622
|
0.00001
|
NM_020686.6(ABAT):c.1191C>T (p.Asn397=)
|
rs764870964
|
0.00001
|
NM_020686.6(ABAT):c.1269+7C>T
|
rs751971295
|
0.00001
|
NM_020686.6(ABAT):c.1311C>T (p.Gly437=)
|
rs1481554008
|
0.00001
|
NM_020686.6(ABAT):c.1431G>A (p.Thr477=)
|
rs573157071
|
0.00001
|
NM_020686.6(ABAT):c.1491A>G (p.Ala497=)
|
rs1290355155
|
0.00001
|
NM_020686.6(ABAT):c.153A>C (p.Pro51=)
|
rs1368430890
|
0.00001
|
NM_020686.6(ABAT):c.156G>A (p.Gly52=)
|
rs955478669
|
0.00001
|
NM_020686.6(ABAT):c.169-6C>T
|
rs758166055
|
0.00001
|
NM_020686.6(ABAT):c.18C>T (p.Leu6=)
|
rs766349160
|
0.00001
|
NM_020686.6(ABAT):c.199-7C>T
|
rs1488250705
|
0.00001
|
NM_020686.6(ABAT):c.231C>T (p.Tyr77=)
|
rs746154029
|
0.00001
|
NM_020686.6(ABAT):c.249T>C (p.Asn83=)
|
rs564543173
|
0.00001
|
NM_020686.6(ABAT):c.285T>C (p.Asp95=)
|
rs917180192
|
0.00001
|
NM_020686.6(ABAT):c.316+19T>C
|
rs1278852788
|
0.00001
|
NM_020686.6(ABAT):c.317-11C>T
|
rs779744741
|
0.00001
|
NM_020686.6(ABAT):c.317-18A>G
|
rs2059688012
|
0.00001
|
NM_020686.6(ABAT):c.366+13G>T
|
rs769166673
|
0.00001
|
NM_020686.6(ABAT):c.387C>T (p.Pro129=)
|
rs759203240
|
0.00001
|
NM_020686.6(ABAT):c.399C>T (p.Ile133=)
|
rs1272415972
|
0.00001
|
NM_020686.6(ABAT):c.448-11C>G
|
rs771506614
|
0.00001
|
NM_020686.6(ABAT):c.448-5C>A
|
rs374659543
|
0.00001
|
NM_020686.6(ABAT):c.525C>T (p.Ile175=)
|
rs1382391739
|
0.00001
|
NM_020686.6(ABAT):c.540+13_540+14dup
|
rs765389727
|
0.00001
|
NM_020686.6(ABAT):c.541-10A>G
|
rs771274045
|
0.00001
|
NM_020686.6(ABAT):c.60G>A (p.Leu20=)
|
rs768798452
|
0.00001
|
NM_020686.6(ABAT):c.648G>A (p.Ala216=)
|
rs767550217
|
0.00001
|
NM_020686.6(ABAT):c.657G>C (p.Gly219=)
|
rs1245557067
|
0.00001
|
NM_020686.6(ABAT):c.667+20C>T
|
rs376506551
|
0.00001
|
NM_020686.6(ABAT):c.70+13G>T
|
rs1282229987
|
0.00001
|
NM_020686.6(ABAT):c.70+20A>C
|
rs763704300
|
0.00001
|
NM_020686.6(ABAT):c.789A>G (p.Gln263=)
|
rs749392643
|
0.00001
|
NM_020686.6(ABAT):c.817-5T>A
|
rs1424382157
|
0.00001
|
NM_020686.6(ABAT):c.840T>C (p.Tyr280=)
|
rs1596470323
|
0.00001
|
NM_020686.6(ABAT):c.954+12G>A
|
rs372226894
|
0.00001
|
NM_020686.6(ABAT):c.955-14T>G
|
rs375655134
|
0.00001
|
NM_020686.6(ABAT):c.975G>A (p.Val325=)
|
rs761480429
|
0.00001
|
NM_020686.6(ABAT):c.978C>T (p.Asp326=)
|
rs201727625
|
0.00001
|
NM_020686.6(ABAT):c.999C>T (p.Gly333=)
|
rs1353981722
|
0.00001
|
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=)
|
rs760703487
|
0.00001
|
NM_022132.5(MCCC2):c.105G>A (p.Pro35=)
|
rs1365918358
|
0.00001
|
NM_022132.5(MCCC2):c.1107C>T (p.Ile369=)
|
rs1394757971
|
0.00001
|
NM_022132.5(MCCC2):c.1216+10T>C
|
rs777129152
|
0.00001
|
NM_022132.5(MCCC2):c.1242A>G (p.Glu414=)
|
rs375010821
|
0.00001
|
NM_022132.5(MCCC2):c.1374-19C>A
|
rs761903116
|
0.00001
|
NM_022132.5(MCCC2):c.13C>T (p.Leu5=)
|
rs954414863
|
0.00001
|
NM_022132.5(MCCC2):c.1452G>A (p.Thr484=)
|
rs1345577961
|
0.00001
|
NM_022132.5(MCCC2):c.1476G>T (p.Arg492=)
|
rs201279542
|
0.00001
|
NM_022132.5(MCCC2):c.1488+9C>T
|
rs1561848361
|
0.00001
|
NM_022132.5(MCCC2):c.1500T>C (p.Ala500=)
|
rs1747468314
|
0.00001
|
NM_022132.5(MCCC2):c.1524C>T (p.Pro508=)
|
rs146674014
|
0.00001
|
NM_022132.5(MCCC2):c.1574+7G>T
|
rs766044711
|
0.00001
|
NM_022132.5(MCCC2):c.196+20C>T
|
rs766988420
|
0.00001
|
NM_022132.5(MCCC2):c.336G>A (p.Glu112=)
|
rs1325018619
|
0.00001
|
NM_022132.5(MCCC2):c.383+17T>C
|
rs1745350073
|
0.00001
|
NM_022132.5(MCCC2):c.456A>G (p.Lys152=)
|
rs1409261895
|
0.00001
|
NM_022132.5(MCCC2):c.51C>G (p.Pro17=)
|
rs1390205513
|
0.00001
|
NM_022132.5(MCCC2):c.549T>C (p.Asp183=)
|
rs1400921456
|
0.00001
|
NM_022132.5(MCCC2):c.624+13G>T
|
rs376190037
|
0.00001
|
NM_022132.5(MCCC2):c.625-17G>A
|
rs771274447
|
0.00001
|
NM_022132.5(MCCC2):c.627C>T (p.Ile209=)
|
rs777033953
|
0.00001
|
NM_022132.5(MCCC2):c.651C>T (p.Thr217=)
|
rs1380948898
|
0.00001
|
NM_022132.5(MCCC2):c.657A>C (p.Gly219=)
|
rs1350958601
|
0.00001
|
NM_022132.5(MCCC2):c.736T>C (p.Leu246=)
|
rs1303225809
|
0.00001
|
NM_022132.5(MCCC2):c.739-7G>T
|
rs765082065
|
0.00001
|
NM_022132.5(MCCC2):c.753T>C (p.Thr251=)
|
rs3736398
|
0.00001
|
NM_022132.5(MCCC2):c.798T>C (p.His266=)
|
rs932586663
|
0.00001
|
NM_022132.5(MCCC2):c.804-10T>C
|
rs1295275733
|
0.00001
|
NM_022132.5(MCCC2):c.903+8C>T
|
rs1348079727
|
0.00001
|
NM_022132.5(MCCC2):c.904-4G>T
|
rs758885126
|
0.00001
|
NM_025136.4(OPA3):c.120T>C (p.Tyr40=)
|
rs752657560
|
0.00001
|
NM_025136.4(OPA3):c.142+10A>T
|
rs539476253
|
0.00001
|
NM_025136.4(OPA3):c.143-6C>T
|
rs760030315
|
0.00001
|
NM_025136.4(OPA3):c.143-9C>G
|
rs1342185871
|
0.00001
|
NM_025136.4(OPA3):c.222G>A (p.Glu74=)
|
rs1241138154
|
0.00001
|
NM_025136.4(OPA3):c.237G>C (p.Leu79=)
|
rs943536843
|
0.00001
|
NM_025136.4(OPA3):c.252G>A (p.Leu84=)
|
rs757297634
|
0.00001
|
NM_025136.4(OPA3):c.255C>T (p.Gly85=)
|
rs951025429
|
0.00001
|
NM_025136.4(OPA3):c.354C>T (p.Ala118=)
|
rs745763712
|
0.00001
|
NM_025136.4(OPA3):c.381C>T (p.Gly127=)
|
rs1405668670
|
0.00001
|
NM_025136.4(OPA3):c.426G>A (p.Ala142=)
|
rs1289276507
|
0.00001
|
NM_025136.4(OPA3):c.441C>G (p.Gly147=)
|
rs1049255184
|
0.00001
|
NM_025136.4(OPA3):c.444C>T (p.Ala148=)
|
rs759536853
|
0.00001
|
NM_025136.4(OPA3):c.453A>G (p.Glu151=)
|
rs1338422249
|
0.00001
|
NM_025136.4(OPA3):c.78T>C (p.Arg26=)
|
rs1372988634
|
0.00001
|
NM_025136.4(OPA3):c.87G>A (p.Glu29=)
|
rs1194417590
|
0.00001
|
NM_032861.4(SERAC1):c.1016-5A>G
|
rs1321114507
|
0.00001
|
NM_032861.4(SERAC1):c.1539G>A (p.Thr513=)
|
rs1219406942
|
0.00001
|
NM_032861.4(SERAC1):c.1653C>T (p.Phe551=)
|
rs1398045297
|
0.00001
|
NM_032861.4(SERAC1):c.1685-12A>G
|
rs1327940001
|
0.00001
|
NM_032861.4(SERAC1):c.285A>G (p.Arg95=)
|
rs752918334
|
0.00001
|
NM_032861.4(SERAC1):c.387T>C (p.His129=)
|
rs781658698
|
0.00001
|
NM_032861.4(SERAC1):c.487+12A>G
|
rs531094036
|
0.00001
|
NM_032861.4(SERAC1):c.525G>A (p.Pro175=)
|
rs774652383
|
0.00001
|
NM_032861.4(SERAC1):c.738+7T>C
|
rs1784954711
|
0.00001
|
NM_052845.4(MMAB):c.135-4T>C
|
rs1025409144
|
0.00001
|
NM_052845.4(MMAB):c.255C>T (p.Ala85=)
|
rs894225131
|
0.00001
|
NM_052845.4(MMAB):c.348+10_348+13del
|
rs775340018
|
0.00001
|
NM_052845.4(MMAB):c.348+7A>G
|
rs769138883
|
0.00001
|
NM_052845.4(MMAB):c.348+9C>T
|
rs747459155
|
0.00001
|
NM_052845.4(MMAB):c.349-10C>T
|
rs896742047
|
0.00001
|
NM_052845.4(MMAB):c.360A>G (p.Thr120=)
|
rs1393235772
|
0.00001
|
NM_052845.4(MMAB):c.369C>T (p.Asp123=)
|
rs1055749855
|
0.00001
|
NM_052845.4(MMAB):c.422-6C>T
|
rs759110803
|
0.00001
|
NM_052845.4(MMAB):c.423G>A (p.Lys141=)
|
rs1474862262
|
0.00001
|
NM_052845.4(MMAB):c.432G>C (p.Thr144=)
|
rs200127370
|
0.00001
|
NM_052845.4(MMAB):c.451C>T (p.Leu151=)
|
rs1884202824
|
0.00001
|
NM_052845.4(MMAB):c.456G>A (p.Glu152=)
|
rs1884202411
|
0.00001
|
NM_052845.4(MMAB):c.457C>T (p.Leu153=)
|
rs767045171
|
0.00001
|
NM_052845.4(MMAB):c.465G>A (p.Gln155=)
|
rs1323701026
|
0.00001
|
NM_052845.4(MMAB):c.516G>T (p.Leu172=)
|
rs914000089
|
0.00001
|
NM_052845.4(MMAB):c.522G>A (p.Ser174=)
|
rs545625368
|
0.00001
|
NM_052845.4(MMAB):c.525A>G (p.Gly175=)
|
rs138069953
|
0.00001
|
NM_052845.4(MMAB):c.540G>A (p.Ser180=)
|
rs754311573
|
0.00001
|
NM_052845.4(MMAB):c.543G>A (p.Ala181=)
|
rs145411521
|
0.00001
|
NM_052845.4(MMAB):c.615C>T (p.Thr205=)
|
rs760629956
|
0.00001
|
NM_052845.4(MMAB):c.645-8C>G
|
rs1251570137
|
0.00001
|
NM_052845.4(MMAB):c.99G>A (p.Gln33=)
|
rs749127574
|
0.00001
|
NM_054012.4(ASS1):c.1014C>T (p.Ile338=)
|
rs749554993
|
0.00001
|
NM_054012.4(ASS1):c.105+14C>T
|
rs750278093
|
0.00001
|
NM_054012.4(ASS1):c.1053G>A (p.Val351=)
|
rs761241799
|
0.00001
|
NM_054012.4(ASS1):c.1074G>A (p.Val358=)
|
rs1256882753
|
0.00001
|
NM_054012.4(ASS1):c.1083C>T (p.Leu361=)
|
rs78564724
|
0.00001
|
NM_054012.4(ASS1):c.1127+8C>T
|
rs1231262490
|
0.00001
|
NM_054012.4(ASS1):c.1167C>T (p.Thr389=)
|
rs772796860
|
0.00001
|
NM_054012.4(ASS1):c.1194-10del
|
rs778919653
|
0.00001
|
NM_054012.4(ASS1):c.1197G>A (p.Leu399=)
|
rs1342431625
|
0.00001
|
NM_054012.4(ASS1):c.174+11G>A
|
rs771403927
|
0.00001
|
NM_054012.4(ASS1):c.183T>C (p.Ile61=)
|
rs1036284939
|
0.00001
|
NM_054012.4(ASS1):c.210G>A (p.Glu70=)
|
rs1465915503
|
0.00001
|
NM_054012.4(ASS1):c.225G>A (p.Pro75=)
|
rs765933359
|
0.00001
|
NM_054012.4(ASS1):c.246G>A (p.Leu82=)
|
rs757342268
|
0.00001
|
NM_054012.4(ASS1):c.261C>T (p.Tyr87=)
|
rs749648285
|
0.00001
|
NM_054012.4(ASS1):c.315C>T (p.Ile105=)
|
rs953220613
|
0.00001
|
NM_054012.4(ASS1):c.369C>T (p.Asn123=)
|
rs761616623
|
0.00001
|
NM_054012.4(ASS1):c.390C>G (p.Leu130=)
|
rs760943587
|
0.00001
|
NM_054012.4(ASS1):c.39C>T (p.Gly13=)
|
rs769672308
|
0.00001
|
NM_054012.4(ASS1):c.423C>G (p.Val141=)
|
rs887468647
|
0.00001
|
NM_054012.4(ASS1):c.438G>A (p.Arg146=)
|
rs1180017518
|
0.00001
|
NM_054012.4(ASS1):c.513C>T (p.Ile171=)
|
rs1322818918
|
0.00001
|
NM_054012.4(ASS1):c.54G>A (p.Ser18=)
|
rs768923973
|
0.00001
|
NM_054012.4(ASS1):c.561C>T (p.His187=)
|
rs1403877099
|
0.00001
|
NM_054012.4(ASS1):c.566+9C>A
|
rs1445034997
|
0.00001
|
NM_054012.4(ASS1):c.606G>A (p.Ala202=)
|
rs747850211
|
0.00001
|
NM_054012.4(ASS1):c.63C>T (p.Leu21=)
|
rs774476997
|
0.00001
|
NM_054012.4(ASS1):c.669C>T (p.Leu223=)
|
rs763203138
|
0.00001
|
NM_054012.4(ASS1):c.688+13C>T
|
rs1179330591
|
0.00001
|
NM_054012.4(ASS1):c.688+7G>T
|
rs1846038006
|
0.00001
|
NM_054012.4(ASS1):c.711C>T (p.Asn237=)
|
rs779981831
|
0.00001
|
NM_054012.4(ASS1):c.771C>T (p.Val257=)
|
rs547904731
|
0.00001
|
NM_054012.4(ASS1):c.838+9G>A
|
rs760468184
|
0.00001
|
NM_054012.4(ASS1):c.839-6G>C
|
rs766187530
|
0.00001
|
NM_054012.4(ASS1):c.84C>A (p.Gly28=)
|
rs1386337873
|
0.00001
|
NM_054012.4(ASS1):c.891C>T (p.Ile297=)
|
rs200900381
|
0.00001
|
NM_054012.4(ASS1):c.960G>A (p.Leu320=)
|
rs752064358
|
0.00001
|
NM_054012.4(ASS1):c.990G>A (p.Glu330=)
|
rs746549187
|
0.00001
|
NM_058179.4(PSAT1):c.1005T>C (p.His335=)
|
rs200973599
|
0.00001
|
NM_058179.4(PSAT1):c.1007+13G>A
|
rs1057515672
|
0.00001
|
NM_058179.4(PSAT1):c.192-14A>C
|
rs765489661
|
0.00001
|
NM_058179.4(PSAT1):c.225G>T (p.Leu75=)
|
rs377756778
|
0.00001
|
NM_058179.4(PSAT1):c.261C>T (p.Pro87=)
|
rs909218310
|
0.00001
|
NM_058179.4(PSAT1):c.270C>T (p.Leu90=)
|
rs775726256
|
0.00001
|
NM_058179.4(PSAT1):c.33G>T (p.Gly11=)
|
rs767502606
|
0.00001
|
NM_058179.4(PSAT1):c.369C>T (p.Ile123=)
|
rs762328288
|
0.00001
|
NM_058179.4(PSAT1):c.456C>T (p.Cys152=)
|
rs376944831
|
0.00001
|
NM_058179.4(PSAT1):c.498C>T (p.Pro166=)
|
rs746877540
|
0.00001
|
NM_058179.4(PSAT1):c.516A>G (p.Val172=)
|
rs749688642
|
0.00001
|
NM_058179.4(PSAT1):c.570+13A>G
|
rs962259327
|
0.00001
|
NM_058179.4(PSAT1):c.813C>T (p.Ser271=)
|
rs747711253
|
0.00001
|
NM_058179.4(PSAT1):c.867C>T (p.Tyr289=)
|
rs189310401
|
0.00001
|
NM_058179.4(PSAT1):c.870-16T>C
|
rs746255855
|
0.00001
|
NM_058179.4(PSAT1):c.879G>A (p.Val293=)
|
rs762084954
|
0.00001
|
NM_145261.4(DNAJC19):c.105A>G (p.Gln35=)
|
rs1400868784
|
0.00001
|
NM_145261.4(DNAJC19):c.129+11G>T
|
rs546533068
|
0.00001
|
NM_145261.4(DNAJC19):c.210-19C>T
|
rs780397593
|
0.00001
|
NM_145261.4(DNAJC19):c.280+16A>T
|
rs773185733
|
0.00001
|
NM_145261.4(DNAJC19):c.348A>G (p.Lys116=)
|
rs771098271
|
0.00001
|
NM_152419.3(HGSNAT):c.1002C>T (p.Cys334=)
|
rs747338801
|
0.00001
|
NM_152419.3(HGSNAT):c.1008T>A (p.Gly336=)
|
rs748217780
|
0.00001
|
NM_152419.3(HGSNAT):c.1012+10T>A
|
rs372410947
|
0.00001
|
NM_152419.3(HGSNAT):c.1013-12T>G
|
rs199736308
|
0.00001
|
NM_152419.3(HGSNAT):c.1045C>T (p.Leu349=)
|
rs767921078
|
0.00001
|
NM_152419.3(HGSNAT):c.1107T>C (p.Pro369=)
|
rs1401712530
|
0.00001
|
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=)
|
rs886062953
|
0.00001
|
NM_152419.3(HGSNAT):c.1129-5C>T
|
rs1220052687
|
0.00001
|
NM_152419.3(HGSNAT):c.1129-7C>T
|
rs756262049
|
0.00001
|
NM_152419.3(HGSNAT):c.1155C>T (p.Asp385=)
|
rs768343523
|
0.00001
|
NM_152419.3(HGSNAT):c.1161G>A (p.Thr387=)
|
rs761414980
|
0.00001
|
NM_152419.3(HGSNAT):c.118+10C>A
|
rs768117824
|
0.00001
|
NM_152419.3(HGSNAT):c.1224C>T (p.Phe408=)
|
rs779284289
|
0.00001
|
NM_152419.3(HGSNAT):c.1251-16C>G
|
rs371770607
|
0.00001
|
NM_152419.3(HGSNAT):c.1290G>A (p.Lys430=)
|
rs748987930
|
0.00001
|
NM_152419.3(HGSNAT):c.1302C>T (p.Cys434=)
|
rs759417010
|
0.00001
|
NM_152419.3(HGSNAT):c.1359C>T (p.Tyr453=)
|
rs376647117
|
0.00001
|
NM_152419.3(HGSNAT):c.1368A>G (p.Pro456=)
|
rs1411732379
|
0.00001
|
NM_152419.3(HGSNAT):c.1377+7G>C
|
rs1225445756
|
0.00001
|
NM_152419.3(HGSNAT):c.1392C>T (p.Thr464=)
|
rs767972481
|
0.00001
|
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=)
|
rs779611596
|
0.00001
|
NM_152419.3(HGSNAT):c.1440C>T (p.Ile480=)
|
rs779933668
|
0.00001
|
NM_152419.3(HGSNAT):c.1465-14G>A
|
rs1484663572
|
0.00001
|
NM_152419.3(HGSNAT):c.1543-20C>A
|
rs201435854
|
0.00001
|
NM_152419.3(HGSNAT):c.1543-7A>G
|
rs781471935
|
0.00001
|
NM_152419.3(HGSNAT):c.1545G>A (p.Gly515=)
|
rs1440154264
|
0.00001
|
NM_152419.3(HGSNAT):c.1632T>C (p.Thr544=)
|
rs757706222
|
0.00001
|
NM_152419.3(HGSNAT):c.1669C>T (p.Leu557=)
|
rs761500930
|
0.00001
|
NM_152419.3(HGSNAT):c.1698G>A (p.Leu566=)
|
rs752785040
|
0.00001
|
NM_152419.3(HGSNAT):c.1727-13C>G
|
rs747875081
|
0.00001
|
NM_152419.3(HGSNAT):c.1727-17A>G
|
rs780686580
|
0.00001
|
NM_152419.3(HGSNAT):c.1815C>T (p.His605=)
|
rs1249488528
|
0.00001
|
NM_152419.3(HGSNAT):c.1821G>A (p.Glu607=)
|
rs769449292
|
0.00001
|
NM_152419.3(HGSNAT):c.1907G>A (p.Ter636=)
|
rs1804852687
|
0.00001
|
NM_152419.3(HGSNAT):c.234+10A>T
|
rs1802742419
|
0.00001
|
NM_152419.3(HGSNAT):c.258C>T (p.Asn86=)
|
rs772299811
|
0.00001
|
NM_152419.3(HGSNAT):c.261T>A (p.Val87=)
|
rs1461875540
|
0.00001
|
NM_152419.3(HGSNAT):c.279A>C (p.Ala93=)
|
rs766369405
|
0.00001
|
NM_152419.3(HGSNAT):c.288T>C (p.Pro96=)
|
rs755833800
|
0.00001
|
NM_152419.3(HGSNAT):c.360A>G (p.Lys120=)
|
rs200079240
|
0.00001
|
NM_152419.3(HGSNAT):c.366T>G (p.Val122=)
|
rs1803172362
|
0.00001
|
NM_152419.3(HGSNAT):c.369T>C (p.Cys123=)
|
rs1258501549
|
0.00001
|
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=)
|
rs1335563220
|
0.00001
|
NM_152419.3(HGSNAT):c.411C>G (p.Leu137=)
|
rs1051098032
|
0.00001
|
NM_152419.3(HGSNAT):c.453T>C (p.Cys151=)
|
rs763777880
|
0.00001
|
NM_152419.3(HGSNAT):c.45G>A (p.Ala15=)
|
rs1351688097
|
0.00001
|
NM_152419.3(HGSNAT):c.486T>C (p.Ser162=)
|
rs1803185644
|
0.00001
|
NM_152419.3(HGSNAT):c.48C>G (p.Ser16=)
|
rs1802479958
|
0.00001
|
NM_152419.3(HGSNAT):c.558G>A (p.Leu186=)
|
rs953533399
|
0.00001
|
NM_152419.3(HGSNAT):c.559T>C (p.Leu187=)
|
rs1408418542
|
0.00001
|
NM_152419.3(HGSNAT):c.563+7T>C
|
rs756465413
|
0.00001
|
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)
|
rs1355715592
|
0.00001
|
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)
|
rs1251787808
|
0.00001
|
NM_152419.3(HGSNAT):c.64C>T (p.Leu22=)
|
rs1164054537
|
0.00001
|
NM_152419.3(HGSNAT):c.726C>T (p.Ser242=)
|
rs181728385
|
0.00001
|
NM_152419.3(HGSNAT):c.735C>G (p.Thr245=)
|
rs997906795
|
0.00001
|
NM_152419.3(HGSNAT):c.777T>C (p.Tyr259=)
|
rs376365655
|
0.00001
|
NM_152419.3(HGSNAT):c.837C>T (p.Asp279=)
|
rs1277158595
|
0.00001
|
NM_152419.3(HGSNAT):c.849G>A (p.Pro283=)
|
rs368058038
|
0.00001
|
NM_152419.3(HGSNAT):c.851+7T>G
|
rs756810802
|
0.00001
|
NM_152419.3(HGSNAT):c.851+9C>T
|
rs755549867
|
0.00001
|
NM_152419.3(HGSNAT):c.885A>G (p.Leu295=)
|
rs200637619
|
0.00001
|
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=)
|
rs780309535
|
0.00001
|
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=)
|
rs1358940142
|
0.00001
|
NM_152419.3(HGSNAT):c.987G>C (p.Val329=)
|
rs1241816731
|
0.00001
|
NM_152542.5(PPM1K):c.1080A>G (p.Ser360=)
|
rs746316294
|
0.00001
|
NM_152542.5(PPM1K):c.525C>T (p.Ala175=)
|
rs778580842
|
0.00001
|
NM_152542.5(PPM1K):c.66G>A (p.Leu22=)
|
rs1731887392
|
0.00001
|
NM_153006.3(NAGS):c.1000C>A (p.Arg334=)
|
rs201310602
|
0.00001
|
NM_153006.3(NAGS):c.1047C>T (p.Ala349=)
|
rs1401837626
|
0.00001
|
NM_153006.3(NAGS):c.1096+9G>A
|
rs1194405418
|
0.00001
|
NM_153006.3(NAGS):c.1101C>T (p.Ser367=)
|
rs777811683
|
0.00001
|
NM_153006.3(NAGS):c.1110G>C (p.Leu370=)
|
rs1597866171
|
0.00001
|
NM_153006.3(NAGS):c.1191C>T (p.Ala397=)
|
rs764654474
|
0.00001
|
NM_153006.3(NAGS):c.1197C>T (p.Phe399=)
|
rs751627477
|
0.00001
|
NM_153006.3(NAGS):c.1222C>T (p.Leu408=)
|
rs1418116310
|
0.00001
|
NM_153006.3(NAGS):c.1242G>A (p.Arg414=)
|
rs754959332
|
0.00001
|
NM_153006.3(NAGS):c.1257C>T (p.Tyr419=)
|
rs1235142426
|
0.00001
|
NM_153006.3(NAGS):c.1299G>A (p.Glu433=)
|
rs104894607
|
0.00001
|
NM_153006.3(NAGS):c.1317C>T (p.Thr439=)
|
rs1483196926
|
0.00001
|
NM_153006.3(NAGS):c.1452-4C>G
|
rs749449489
|
0.00001
|
NM_153006.3(NAGS):c.1551C>T (p.His517=)
|
rs757631705
|
0.00001
|
NM_153006.3(NAGS):c.1563G>A (p.Leu521=)
|
rs368798366
|
0.00001
|
NM_153006.3(NAGS):c.180C>A (p.Pro60=)
|
rs1295356207
|
0.00001
|
NM_153006.3(NAGS):c.216G>T (p.Ser72=)
|
rs891726101
|
0.00001
|
NM_153006.3(NAGS):c.273G>A (p.Glu91=)
|
rs1302576935
|
0.00001
|
NM_153006.3(NAGS):c.297C>T (p.Arg99=)
|
rs1381024708
|
0.00001
|
NM_153006.3(NAGS):c.303G>T (p.Leu101=)
|
rs986684848
|
0.00001
|
NM_153006.3(NAGS):c.351T>G (p.Pro117=)
|
rs1214682844
|
0.00001
|
NM_153006.3(NAGS):c.427-222G>A
|
rs2049072767
|
0.00001
|
NM_153006.3(NAGS):c.42T>C (p.Ala14=)
|
rs752217893
|
0.00001
|
NM_153006.3(NAGS):c.450C>T (p.Cys150=)
|
rs750572927
|
0.00001
|
NM_153006.3(NAGS):c.459C>T (p.Gly153=)
|
rs1259861627
|
0.00001
|
NM_153006.3(NAGS):c.51G>A (p.Pro17=)
|
rs1009436443
|
0.00001
|
NM_153006.3(NAGS):c.585G>A (p.Gln195=)
|
rs1418200676
|
0.00001
|
NM_153006.3(NAGS):c.618G>A (p.Ala206=)
|
rs767680440
|
0.00001
|
NM_153006.3(NAGS):c.645G>T (p.Val215=)
|
rs766418377
|
0.00001
|
NM_153006.3(NAGS):c.675C>A (p.Arg225=)
|
rs1436648834
|
0.00001
|
NM_153006.3(NAGS):c.687G>T (p.Pro229=)
|
rs1319985208
|
0.00001
|
NM_153006.3(NAGS):c.696T>C (p.His232=)
|
rs1268332465
|
0.00001
|
NM_153006.3(NAGS):c.701+11G>A
|
rs1206538981
|
0.00001
|
NM_153006.3(NAGS):c.708C>A (p.Gly236=)
|
rs202223128
|
0.00001
|
NM_153006.3(NAGS):c.714C>T (p.Ile238=)
|
rs751366509
|
0.00001
|
NM_153006.3(NAGS):c.795C>T (p.Ala265=)
|
rs763221725
|
0.00001
|
NM_153006.3(NAGS):c.81C>A (p.Gly27=)
|
rs1473496570
|
0.00001
|
NM_153006.3(NAGS):c.837G>A (p.Ala279=)
|
rs778475082
|
0.00001
|
NM_153006.3(NAGS):c.853C>T (p.Leu285=)
|
rs746317425
|
0.00001
|
NM_153006.3(NAGS):c.858G>A (p.Arg286=)
|
rs373673751
|
0.00001
|
NM_153006.3(NAGS):c.879C>G (p.Leu293=)
|
rs1236291283
|
0.00001
|
NM_153006.3(NAGS):c.897G>A (p.Leu299=)
|
rs1453345879
|
0.00001
|
NM_153006.3(NAGS):c.915+10T>C
|
rs780755353
|
0.00001
|
NM_153006.3(NAGS):c.915+18A>G
|
rs1470219186
|
0.00001
|
NM_153006.3(NAGS):c.915+6_915+7insAA
|
rs745844473
|
0.00001
|
NM_153006.3(NAGS):c.916-9C>T
|
rs1162697855
|
0.00001
|
NM_153006.3(NAGS):c.927C>T (p.Asn309=)
|
rs551054997
|
0.00001
|
NM_153006.3(NAGS):c.942C>T (p.Ala314=)
|
rs1226554229
|
0.00001
|
NM_153006.3(NAGS):c.975G>A (p.Val325=)
|
rs770676572
|
0.00001
|
NM_172250.3(MMAA):c.1137C>T (p.Phe379=)
|
rs1010401774
|
0.00001
|
NM_172250.3(MMAA):c.129G>A (p.Pro43=)
|
rs779779664
|
0.00001
|
NM_172250.3(MMAA):c.159G>A (p.Lys53=)
|
rs1191388669
|
0.00001
|
NM_172250.3(MMAA):c.15A>G (p.Leu5=)
|
rs755914586
|
0.00001
|
NM_172250.3(MMAA):c.177T>C (p.Asp59=)
|
rs1727713075
|
0.00001
|
NM_172250.3(MMAA):c.258G>A (p.Val86=)
|
rs1240108337
|
0.00001
|
NM_172250.3(MMAA):c.336C>T (p.His112=)
|
rs771388415
|
0.00001
|
NM_172250.3(MMAA):c.33T>C (p.His11=)
|
rs370983676
|
0.00001
|
NM_172250.3(MMAA):c.440-5C>T
|
rs759611574
|
0.00001
|
NM_172250.3(MMAA):c.563-9A>G
|
rs1361037765
|
0.00001
|
NM_172250.3(MMAA):c.702G>A (p.Ala234=)
|
rs781525637
|
0.00001
|
NM_172250.3(MMAA):c.734-8A>G
|
rs778057240
|
0.00001
|
NM_172250.3(MMAA):c.756T>C (p.Ala252=)
|
rs781124654
|
0.00001
|
NM_172250.3(MMAA):c.795A>C (p.Pro265=)
|
rs767934772
|
0.00001
|
NM_172250.3(MMAA):c.819+10T>A
|
rs1202834297
|
0.00001
|
NM_172250.3(MMAA):c.840C>T (p.Ile280=)
|
rs750509072
|
0.00001
|
NM_172250.3(MMAA):c.891G>A (p.Val297=)
|
rs1315370286
|
0.00001
|
NM_172250.3(MMAA):c.927A>G (p.Ala309=)
|
rs769082931
|
0.00001
|
NM_172250.3(MMAA):c.970-7T>C
|
rs770942394
|
0.00001
|
NM_177550.5(SLC13A5):c.1017C>T (p.Pro339=)
|
rs200365614
|
0.00001
|
NM_177550.5(SLC13A5):c.102+8G>C
|
rs765725969
|
0.00001
|
NM_177550.5(SLC13A5):c.1065C>T (p.Ser355=)
|
rs140940366
|
0.00001
|
NM_177550.5(SLC13A5):c.1125C>T (p.Pro375=)
|
rs1483419923
|
0.00001
|
NM_177550.5(SLC13A5):c.1156+15C>G
|
rs367721453
|
0.00001
|
NM_177550.5(SLC13A5):c.1188G>A (p.Leu396=)
|
rs570830621
|
0.00001
|
NM_177550.5(SLC13A5):c.1221C>T (p.Pro407=)
|
rs547474199
|
0.00001
|
NM_177550.5(SLC13A5):c.1240C>T (p.Leu414=)
|
rs1206208725
|
0.00001
|
NM_177550.5(SLC13A5):c.1272C>T (p.Ser424=)
|
rs368030315
|
0.00001
|
NM_177550.5(SLC13A5):c.1276-17C>T
|
rs1973392872
|
0.00001
|
NM_177550.5(SLC13A5):c.1318T>C (p.Leu440=)
|
rs1341974633
|
0.00001
|
NM_177550.5(SLC13A5):c.1323C>T (p.His441=)
|
rs368369308
|
0.00001
|
NM_177550.5(SLC13A5):c.132C>T (p.Leu44=)
|
rs1258344040
|
0.00001
|
NM_177550.5(SLC13A5):c.1407C>A (p.Thr469=)
|
rs1488808458
|
0.00001
|
NM_177550.5(SLC13A5):c.1438-18del
|
rs759057646
|
0.00001
|
NM_177550.5(SLC13A5):c.1438-5C>T
|
rs368120301
|
0.00001
|
NM_177550.5(SLC13A5):c.1530A>G (p.Pro510=)
|
rs762703163
|
0.00001
|
NM_177550.5(SLC13A5):c.1575+10C>A
|
rs576242281
|
0.00001
|
NM_177550.5(SLC13A5):c.1575+12G>A
|
rs748598074
|
0.00001
|
NM_177550.5(SLC13A5):c.1629T>C (p.Ala543=)
|
rs766561824
|
0.00001
|
NM_177550.5(SLC13A5):c.1689G>A (p.Val563=)
|
rs1567612268
|
0.00001
|
NM_177550.5(SLC13A5):c.276C>T (p.Gly92=)
|
rs771703938
|
0.00001
|
NM_177550.5(SLC13A5):c.279C>G (p.Gly93=)
|
rs1253377106
|
0.00001
|
NM_177550.5(SLC13A5):c.327C>T (p.Ile109=)
|
rs761010502
|
0.00001
|
NM_177550.5(SLC13A5):c.369-13C>T
|
rs1387018006
|
0.00001
|
NM_177550.5(SLC13A5):c.369-9C>A
|
rs1301686731
|
0.00001
|
NM_177550.5(SLC13A5):c.453C>T (p.Ile151=)
|
rs144523287
|
0.00001
|
NM_177550.5(SLC13A5):c.466T>C (p.Leu156=)
|
rs1284550674
|
0.00001
|
NM_177550.5(SLC13A5):c.516G>A (p.Leu172=)
|
rs1164489091
|
0.00001
|
NM_177550.5(SLC13A5):c.547+15A>G
|
rs200767134
|
0.00001
|
NM_177550.5(SLC13A5):c.555A>G (p.Gln185=)
|
rs752221899
|
0.00001
|
NM_177550.5(SLC13A5):c.576T>C (p.Thr192=)
|
rs1274573548
|
0.00001
|
NM_177550.5(SLC13A5):c.645G>A (p.Ala215=)
|
rs771306101
|
0.00001
|
NM_177550.5(SLC13A5):c.699C>T (p.Leu233=)
|
rs200076864
|
0.00001
|
NM_177550.5(SLC13A5):c.69G>T (p.Leu23=)
|
rs1280438112
|
0.00001
|
NM_177550.5(SLC13A5):c.702G>C (p.Leu234=)
|
rs1353818031
|
0.00001
|
NM_177550.5(SLC13A5):c.717-6T>C
|
rs779832945
|
0.00001
|
NM_177550.5(SLC13A5):c.861C>T (p.Cys287=)
|
rs148018915
|
0.00001
|
NM_177550.5(SLC13A5):c.873C>T (p.Ser291=)
|
rs767067775
|
0.00001
|
NM_177550.5(SLC13A5):c.942C>T (p.Phe314=)
|
rs546617630
|
0.00001
|
NM_177550.5(SLC13A5):c.954C>T (p.Asn318=)
|
rs764495638
|
0.00001
|
NM_183050.4(BCKDHB):c.1039-10C>T
|
rs760262704
|
0.00001
|
NM_183050.4(BCKDHB):c.1158T>G (p.Leu386=)
|
rs766392710
|
0.00001
|
NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val)
|
rs534975518
|
0.00001
|
NM_183050.4(BCKDHB):c.192G>A (p.Glu64=)
|
rs1174539586
|
0.00001
|
NM_183050.4(BCKDHB):c.24C>T (p.Ala8=)
|
rs558448066
|
0.00001
|
NM_183050.4(BCKDHB):c.258C>T (p.Ala86=)
|
rs756064958
|
0.00001
|
NM_183050.4(BCKDHB):c.274+8T>G
|
rs144531503
|
0.00001
|
NM_183050.4(BCKDHB):c.344-9T>C
|
rs1479038293
|
0.00001
|
NM_183050.4(BCKDHB):c.393A>T (p.Gly131=)
|
rs934559515
|
0.00001
|
NM_183050.4(BCKDHB):c.402C>T (p.Ile134=)
|
rs759881863
|
0.00001
|
NM_183050.4(BCKDHB):c.43A>C (p.Arg15=)
|
rs781373417
|
0.00001
|
NM_183050.4(BCKDHB):c.478-9G>A
|
rs780452994
|
0.00001
|
NM_183050.4(BCKDHB):c.48G>T (p.Ala16=)
|
rs998893388
|
0.00001
|
NM_183050.4(BCKDHB):c.495C>T (p.Ala165=)
|
rs1174061592
|
0.00001
|
NM_183050.4(BCKDHB):c.522T>C (p.Leu174=)
|
rs1191860809
|
0.00001
|
NM_183050.4(BCKDHB):c.555T>C (p.Pro185=)
|
rs749123579
|
0.00001
|
NM_183050.4(BCKDHB):c.573T>C (p.His191=)
|
rs1280521091
|
0.00001
|
NM_183050.4(BCKDHB):c.615C>T (p.Ala205=)
|
rs760033819
|
0.00001
|
NM_183050.4(BCKDHB):c.636G>A (p.Val212=)
|
rs968957690
|
0.00001
|
NM_183050.4(BCKDHB):c.672T>G (p.Leu224=)
|
rs1488608145
|
0.00001
|
NM_183050.4(BCKDHB):c.676T>C (p.Leu226=)
|
rs1772903772
|
0.00001
|
NM_183050.4(BCKDHB):c.743-14T>C
|
rs747561308
|
0.00001
|
NM_183050.4(BCKDHB):c.841-9T>G
|
rs774698097
|
0.00001
|
NM_183050.4(BCKDHB):c.858G>A (p.Glu286=)
|
rs765019762
|
0.00001
|
NM_183050.4(BCKDHB):c.861A>G (p.Val287=)
|
rs1358699136
|
0.00001
|
NM_183050.4(BCKDHB):c.882G>A (p.Lys294=)
|
rs1354419202
|
0.00001
|
NM_183050.4(BCKDHB):c.90G>A (p.Gly30=)
|
rs553058134
|
0.00001
|
NM_183050.4(BCKDHB):c.9T>A (p.Val3=)
|
rs1373155112
|
0.00001
|
NM_201253.3(CRB1):c.1023T>C (p.Asn341=)
|
rs1064797127
|
0.00001
|
NM_201253.3(CRB1):c.1116T>C (p.Ser372=)
|
rs764990895
|
0.00001
|
NM_201253.3(CRB1):c.1134C>T (p.Ala378=)
|
rs1422765947
|
0.00001
|
NM_201253.3(CRB1):c.1143T>C (p.Tyr381=)
|
rs777205072
|
0.00001
|
NM_201253.3(CRB1):c.1161T>G (p.Pro387=)
|
rs746407080
|
0.00001
|
NM_201253.3(CRB1):c.1172-12A>G
|
rs146175509
|
0.00001
|
NM_201253.3(CRB1):c.1206T>C (p.Ser402=)
|
rs373229699
|
0.00001
|
NM_201253.3(CRB1):c.1227T>G (p.Gly409=)
|
rs903050285
|
0.00001
|
NM_201253.3(CRB1):c.1230T>C (p.Gly410=)
|
rs1334956674
|
0.00001
|
NM_201253.3(CRB1):c.1236T>C (p.Cys412=)
|
rs1358707398
|
0.00001
|
NM_201253.3(CRB1):c.123C>T (p.Asn41=)
|
rs766622294
|
0.00001
|
NM_201253.3(CRB1):c.132A>G (p.Thr44=)
|
rs754232939
|
0.00001
|
NM_201253.3(CRB1):c.1389C>A (p.Gly463=)
|
rs985484481
|
0.00001
|
NM_201253.3(CRB1):c.1446C>T (p.Ile482=)
|
rs150894028
|
0.00001
|
NM_201253.3(CRB1):c.1590T>C (p.Asp530=)
|
rs1386404996
|
0.00001
|
NM_201253.3(CRB1):c.15C>T (p.Asn5=)
|
rs1184713975
|
0.00001
|
NM_201253.3(CRB1):c.1612C>T (p.Leu538=)
|
rs764090396
|
0.00001
|
NM_201253.3(CRB1):c.1656A>T (p.Ser552=)
|
rs774901506
|
0.00001
|
NM_201253.3(CRB1):c.1749C>T (p.Ile583=)
|
rs1178650450
|
0.00001
|
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)
|
rs750442312
|
0.00001
|
NM_201253.3(CRB1):c.1803T>C (p.Ser601=)
|
rs757974429
|
0.00001
|
NM_201253.3(CRB1):c.1818T>C (p.Cys606=)
|
rs371114178
|
0.00001
|
NM_201253.3(CRB1):c.1827G>A (p.Gln609=)
|
rs1231765331
|
0.00001
|
NM_201253.3(CRB1):c.1833C>T (p.Ser611=)
|
rs1474792750
|
0.00001
|
NM_201253.3(CRB1):c.1837T>C (p.Leu613=)
|
rs1664331544
|
0.00001
|
NM_201253.3(CRB1):c.1914G>A (p.Ser638=)
|
rs780682072
|
0.00001
|
NM_201253.3(CRB1):c.1947T>C (p.Asp649=)
|
rs370486884
|
0.00001
|
NM_201253.3(CRB1):c.1977G>A (p.Ser659=)
|
rs1457627160
|
0.00001
|
NM_201253.3(CRB1):c.1995T>C (p.Asn665=)
|
rs774597710
|
0.00001
|
NM_201253.3(CRB1):c.2019G>A (p.Lys673=)
|
rs762613347
|
0.00001
|
NM_201253.3(CRB1):c.201T>C (p.Cys67=)
|
rs778707167
|
0.00001
|
NM_201253.3(CRB1):c.2022T>C (p.Asp674=)
|
rs763534239
|
0.00001
|
NM_201253.3(CRB1):c.2040T>C (p.Pro680=)
|
rs756400739
|
0.00001
|
NM_201253.3(CRB1):c.2052A>G (p.Arg684=)
|
rs1220603723
|
0.00001
|
NM_201253.3(CRB1):c.2055A>G (p.Gly685=)
|
rs1267861114
|
0.00001
|
NM_201253.3(CRB1):c.2058C>T (p.Arg686=)
|
rs1297707527
|
0.00001
|
NM_201253.3(CRB1):c.207C>T (p.Asn69=)
|
rs1302750453
|
0.00001
|
NM_201253.3(CRB1):c.2106T>C (p.Tyr702=)
|
rs1381483469
|
0.00001
|
NM_201253.3(CRB1):c.2129-15A>G
|
rs997262993
|
0.00001
|
NM_201253.3(CRB1):c.2129-8C>T
|
rs768488282
|
0.00001
|
NM_201253.3(CRB1):c.2136G>A (p.Val712=)
|
rs1308513402
|
0.00001
|
NM_201253.3(CRB1):c.2166T>C (p.Thr722=)
|
rs1401615070
|
0.00001
|
NM_201253.3(CRB1):c.2172T>C (p.Tyr724=)
|
rs752824817
|
0.00001
|
NM_201253.3(CRB1):c.2244A>G (p.Pro748=)
|
rs1303632948
|
0.00001
|
NM_201253.3(CRB1):c.2286T>C (p.Tyr762=)
|
rs1192399919
|
0.00001
|
NM_201253.3(CRB1):c.2352A>T (p.Val784=)
|
rs139001684
|
0.00001
|
NM_201253.3(CRB1):c.2367T>C (p.Asn789=)
|
rs998893595
|
0.00001
|
NM_201253.3(CRB1):c.2370T>C (p.Asp790=)
|
rs1664663329
|
0.00001
|
NM_201253.3(CRB1):c.2391T>C (p.Ser797=)
|
rs749788926
|
0.00001
|
NM_201253.3(CRB1):c.2406A>T (p.Pro802=)
|
rs141103073
|
0.00001
|
NM_201253.3(CRB1):c.2472C>T (p.Ile824=)
|
rs757171810
|
0.00001
|
NM_201253.3(CRB1):c.2523T>C (p.Thr841=)
|
rs1191597946
|
0.00001
|
NM_201253.3(CRB1):c.2544C>T (p.Phe848=)
|
rs760840456
|
0.00001
|
NM_201253.3(CRB1):c.2563G>A (p.Val855Ile)
|
rs557930078
|
0.00001
|
NM_201253.3(CRB1):c.2580A>G (p.Gln860=)
|
rs562386611
|
0.00001
|
NM_201253.3(CRB1):c.2610C>T (p.Asn870=)
|
rs1032233875
|
0.00001
|
NM_201253.3(CRB1):c.261C>T (p.Asn87=)
|
rs759889286
|
0.00001
|
NM_201253.3(CRB1):c.2676+10A>G
|
rs1184687882
|
0.00001
|
NM_201253.3(CRB1):c.2691C>T (p.His897=)
|
rs1664766595
|
0.00001
|
NM_201253.3(CRB1):c.2778G>A (p.Gln926=)
|
rs775185174
|
0.00001
|
NM_201253.3(CRB1):c.2823G>A (p.Pro941=)
|
rs62645757
|
0.00001
|
NM_201253.3(CRB1):c.2843-8C>A
|
rs745832578
|
0.00001
|
NM_201253.3(CRB1):c.285G>C (p.Leu95=)
|
rs753898127
|
0.00001
|
NM_201253.3(CRB1):c.2892A>G (p.Arg964=)
|
rs146781806
|
0.00001
|
NM_201253.3(CRB1):c.2931A>G (p.Thr977=)
|
rs764177876
|
0.00001
|
NM_201253.3(CRB1):c.2968T>C (p.Leu990=)
|
rs750298942
|
0.00001
|
NM_201253.3(CRB1):c.3000T>C (p.Asn1000=)
|
rs1477246106
|
0.00001
|
NM_201253.3(CRB1):c.3042T>C (p.Ser1014=)
|
rs374426440
|
0.00001
|
NM_201253.3(CRB1):c.309T>C (p.Ser103=)
|
rs777099127
|
0.00001
|
NM_201253.3(CRB1):c.3105C>T (p.His1035=)
|
rs541965270
|
0.00001
|
NM_201253.3(CRB1):c.3114C>T (p.Thr1038=)
|
rs1240273159
|
0.00001
|
NM_201253.3(CRB1):c.3132A>G (p.Pro1044=)
|
rs761284263
|
0.00001
|
NM_201253.3(CRB1):c.3165G>A (p.Val1055=)
|
rs1187770298
|
0.00001
|
NM_201253.3(CRB1):c.3168C>T (p.Asp1056=)
|
rs1182400732
|
0.00001
|
NM_201253.3(CRB1):c.3189C>A (p.Thr1063=)
|
rs370428071
|
0.00001
|
NM_201253.3(CRB1):c.3220T>C (p.Leu1074=)
|
rs777533163
|
0.00001
|
NM_201253.3(CRB1):c.3285G>C (p.Gly1095=)
|
rs1030214290
|
0.00001
|
NM_201253.3(CRB1):c.3306C>T (p.Ile1102=)
|
rs374786358
|
0.00001
|
NM_201253.3(CRB1):c.3486T>C (p.His1162=)
|
rs553324848
|
0.00001
|
NM_201253.3(CRB1):c.348G>A (p.Lys116=)
|
rs763032541
|
0.00001
|
NM_201253.3(CRB1):c.3564T>C (p.His1188=)
|
rs376271122
|
0.00001
|
NM_201253.3(CRB1):c.3609G>A (p.Glu1203=)
|
rs1177792712
|
0.00001
|
NM_201253.3(CRB1):c.3624T>C (p.Gly1208=)
|
rs760520811
|
0.00001
|
NM_201253.3(CRB1):c.3750-10A>C
|
rs766568931
|
0.00001
|
NM_201253.3(CRB1):c.3765C>T (p.Pro1255=)
|
rs1175098520
|
0.00001
|
NM_201253.3(CRB1):c.3810T>C (p.Asn1270=)
|
rs748813717
|
0.00001
|
NM_201253.3(CRB1):c.3828G>A (p.Glu1276=)
|
rs1390632601
|
0.00001
|
NM_201253.3(CRB1):c.3834G>A (p.Gln1278=)
|
rs1041984071
|
0.00001
|
NM_201253.3(CRB1):c.3876A>G (p.Glu1292=)
|
rs114973695
|
0.00001
|
NM_201253.3(CRB1):c.3878+10A>G
|
rs886043311
|
0.00001
|
NM_201253.3(CRB1):c.3879-4G>A
|
rs373719645
|
0.00001
|
NM_201253.3(CRB1):c.3915G>A (p.Pro1305=)
|
rs541488801
|
0.00001
|
NM_201253.3(CRB1):c.3924T>C (p.Asn1308=)
|
rs771757120
|
0.00001
|
NM_201253.3(CRB1):c.3939G>A (p.Gln1313=)
|
rs375597838
|
0.00001
|
NM_201253.3(CRB1):c.393T>C (p.Tyr131=)
|
rs1324766724
|
0.00001
|
NM_201253.3(CRB1):c.4026C>T (p.Ser1342=)
|
rs142057392
|
0.00001
|
NM_201253.3(CRB1):c.4059C>T (p.Val1353=)
|
rs541669826
|
0.00001
|
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=)
|
rs753097155
|
0.00001
|
NM_201253.3(CRB1):c.4104C>T (p.Val1368=)
|
rs781437952
|
0.00001
|
NM_201253.3(CRB1):c.4113C>T (p.Asn1371=)
|
rs1667262615
|
0.00001
|
NM_201253.3(CRB1):c.4122A>T (p.Ala1374=)
|
rs1667263346
|
0.00001
|
NM_201253.3(CRB1):c.603C>T (p.Cys201=)
|
rs763908215
|
0.00001
|
NM_201253.3(CRB1):c.627T>C (p.Thr209=)
|
rs755611610
|
0.00001
|
NM_201253.3(CRB1):c.652+17C>G
|
rs779288558
|
0.00001
|
NM_201253.3(CRB1):c.653-6T>A
|
rs750059176
|
0.00001
|
NM_201253.3(CRB1):c.70+7C>T
|
rs1358042113
|
0.00001
|
NM_201253.3(CRB1):c.70+8T>C
|
rs763662967
|
0.00001
|
NM_201253.3(CRB1):c.71-12del
|
rs369741574
|
0.00001
|
NM_201253.3(CRB1):c.71-9T>A
|
rs571591819
|
0.00001
|
NM_201253.3(CRB1):c.711A>G (p.Ala237=)
|
rs1192169952
|
0.00001
|
NM_201253.3(CRB1):c.75C>T (p.Ser25=)
|
rs768441650
|
0.00001
|
NM_201253.3(CRB1):c.763C>T (p.Leu255=)
|
rs1659649148
|
0.00001
|
NM_201253.3(CRB1):c.826C>T (p.Leu276=)
|
rs1405215161
|
0.00001
|
NM_201253.3(CRB1):c.849-10T>C
|
rs747523008
|
0.00001
|
NM_201253.3(CRB1):c.864C>T (p.Cys288=)
|
rs1385265027
|
0.00001
|
NM_201253.3(CRB1):c.885G>C (p.Gly295=)
|
rs542716912
|
0.00001
|
NM_201253.3(CRB1):c.957T>C (p.Ser319=)
|
rs765228022
|
0.00001
|
NM_201253.3(CRB1):c.996A>G (p.Thr332=)
|
rs1488355227
|
0.00001
|
NM_205861.3(DHDDS):c.102C>T (p.Asp34=)
|
rs577531413
|
0.00001
|
NM_205861.3(DHDDS):c.181-16C>A
|
rs1462542158
|
0.00001
|
NM_205861.3(DHDDS):c.198G>A (p.Leu66=)
|
rs1308665778
|
0.00001
|
NM_205861.3(DHDDS):c.213A>G (p.Leu71=)
|
rs1230195916
|
0.00001
|
NM_205861.3(DHDDS):c.228C>T (p.Tyr76=)
|
rs566029202
|
0.00001
|
NM_205861.3(DHDDS):c.231A>G (p.Ala77=)
|
rs373249607
|
0.00001
|
NM_205861.3(DHDDS):c.270A>T (p.Val90=)
|
rs1482389957
|
0.00001
|
NM_205861.3(DHDDS):c.324-4T>G
|
rs747118618
|
0.00001
|
NM_205861.3(DHDDS):c.361C>T (p.Leu121=)
|
rs770824761
|
0.00001
|
NM_205861.3(DHDDS):c.366C>T (p.Gly122=)
|
rs774001400
|
0.00001
|
NM_205861.3(DHDDS):c.426G>A (p.Thr142=)
|
rs780727048
|
0.00001
|
NM_205861.3(DHDDS):c.440+8C>A
|
rs1454410409
|
0.00001
|
NM_205861.3(DHDDS):c.441-20T>G
|
rs750044465
|
0.00001
|
NM_205861.3(DHDDS):c.45C>T (p.Phe15=)
|
rs1168720054
|
0.00001
|
NM_205861.3(DHDDS):c.465A>G (p.Ala155=)
|
rs202148886
|
0.00001
|
NM_205861.3(DHDDS):c.468C>T (p.Tyr156=)
|
rs768075911
|
0.00001
|
NM_205861.3(DHDDS):c.519G>A (p.Val173=)
|
rs372941732
|
0.00001
|
NM_205861.3(DHDDS):c.542+16T>C
|
rs774865740
|
0.00001
|
NM_205861.3(DHDDS):c.542+7C>T
|
rs772779004
|
0.00001
|
NM_205861.3(DHDDS):c.543-10C>T
|
rs1326477506
|
0.00001
|
NM_205861.3(DHDDS):c.561G>A (p.Leu187=)
|
rs1264707466
|
0.00001
|
NM_205861.3(DHDDS):c.57C>T (p.Ile19=)
|
rs981419090
|
0.00001
|
NM_205861.3(DHDDS):c.63+13C>T
|
rs370926608
|
0.00001
|
NM_205861.3(DHDDS):c.64-12C>A
|
rs201786378
|
0.00001
|
NM_205861.3(DHDDS):c.64-7T>C
|
rs557755780
|
0.00001
|
NM_205861.3(DHDDS):c.658-11A>G
|
rs1243630480
|
0.00001
|
NM_205861.3(DHDDS):c.723C>T (p.Phe241=)
|
rs375378756
|
0.00001
|
NM_205861.3(DHDDS):c.738G>A (p.Gln246=)
|
rs369614880
|
0.00001
|
NM_205861.3(DHDDS):c.753T>C (p.His251=)
|
rs915027151
|
0.00001
|
NM_205861.3(DHDDS):c.765+18G>T
|
rs748452578
|
0.00001
|
NM_205861.3(DHDDS):c.78G>A (p.Pro26=)
|
rs988933766
|
0.00001
|
NM_205861.3(DHDDS):c.837G>A (p.Glu279=)
|
rs772459112
|
0.00001
|
NM_205861.3(DHDDS):c.987C>T (p.Gly329=)
|
rs1381026387
|
0.00001
|
NC_000003.11:g.(?_11067125)_(11078652_?)dup
|
|
|
NC_000010.10:g.(?_12111033)_(12140015_?)dup
|
|
|
NC_000010.10:g.(?_12143021)_(12162887_?)dup
|
|
|
NC_000010.10:g.(?_12159652)_(12162887_?)del
|
|
|
NC_000017.11:g.6702964ACTC[3]
|
|
|
NC_000022.11:g.40345590G>C
|
rs897965743
|
|
NC_000022.11:g.40346432C>T
|
rs190560535
|
|
NC_000023.11:g.153693174AGGTG[3]
|
|
|
NM_000016.6(ACADM):c.*5dup (p.Ter422=)
|
rs3841786
|
|
NM_000016.6(ACADM):c.1017A>G (p.Arg339=)
|
|
|
NM_000016.6(ACADM):c.1023T>C (p.Ala341=)
|
|
|
NM_000016.6(ACADM):c.1029G>A (p.Glu343=)
|
|
|
NM_000016.6(ACADM):c.1032T>C (p.Val344=)
|
rs774315514
|
|
NM_000016.6(ACADM):c.1041T>G (p.Gly347=)
|
rs2100453092
|
|
NM_000016.6(ACADM):c.1053C>T (p.Thr351=)
|
rs2100453178
|
|
NM_000016.6(ACADM):c.1071A>G (p.Ala357=)
|
|
|
NM_000016.6(ACADM):c.1086A>C (p.Gly362=)
|
rs2100453395
|
|
NM_000016.6(ACADM):c.108A>G (p.Gly36=)
|
rs2100347303
|
|
NM_000016.6(ACADM):c.1095A>G (p.Ala365=)
|
rs376993634
|
|
NM_000016.6(ACADM):c.1101G>A (p.Gln367=)
|
rs2100453483
|
|
NM_000016.6(ACADM):c.1128T>C (p.Leu376=)
|
|
|
NM_000016.6(ACADM):c.1137T>C (p.Asn379=)
|
|
|
NM_000016.6(ACADM):c.1149A>G (p.Thr383=)
|
rs2100453695
|
|
NM_000016.6(ACADM):c.1155T>C (p.Tyr385=)
|
rs2100453722
|
|
NM_000016.6(ACADM):c.1161A>T (p.Val387=)
|
|
|
NM_000016.6(ACADM):c.1176G>A (p.Arg392=)
|
rs2100453854
|
|
NM_000016.6(ACADM):c.118+11G>A
|
|
|
NM_000016.6(ACADM):c.118+17A>G
|
|
|
NM_000016.6(ACADM):c.119-10_119-8dup
|
rs761432730
|
|
NM_000016.6(ACADM):c.119-16A>T
|
rs760185676
|
|
NM_000016.6(ACADM):c.119-5C>T
|
|
|
NM_000016.6(ACADM):c.119-7C>A
|
|
|
NM_000016.6(ACADM):c.119-7C>T
|
|
|
NM_000016.6(ACADM):c.1194+13A>G
|
|
|
NM_000016.6(ACADM):c.1194+16A>G
|
|
|
NM_000016.6(ACADM):c.1194+17T>C
|
|
|
NM_000016.6(ACADM):c.1194+19T>G
|
|
|
NM_000016.6(ACADM):c.1195-14T>A
|
|
|
NM_000016.6(ACADM):c.1195-14T>C
|
|
|
NM_000016.6(ACADM):c.1195-15A>G
|
|
|
NM_000016.6(ACADM):c.1195-17T>G
|
|
|
NM_000016.6(ACADM):c.1195-21_1195-11del
|
|
|
NM_000016.6(ACADM):c.1195-7del
|
rs2100456720
|
|
NM_000016.6(ACADM):c.1197T>C (p.Ile399=)
|
|
|
NM_000016.6(ACADM):c.1221A>G (p.Gln407=)
|
|
|
NM_000016.6(ACADM):c.1227T>G (p.Leu409=)
|
rs2100456877
|
|
NM_000016.6(ACADM):c.1236C>G (p.Ala412=)
|
|
|
NM_000016.6(ACADM):c.1239T>A (p.Arg413=)
|
rs767921195
|
|
NM_000016.6(ACADM):c.1248T>C (p.Ile416=)
|
|
|
NM_000016.6(ACADM):c.12G>A (p.Gly4=)
|
|
|
NM_000016.6(ACADM):c.12G>T (p.Gly4=)
|
rs757845443
|
|
NM_000016.6(ACADM):c.132G>A (p.Gln44=)
|
rs1647165709
|
|
NM_000016.6(ACADM):c.150T>A (p.Ala50=)
|
rs1647165968
|
|
NM_000016.6(ACADM):c.153T>G (p.Thr51=)
|
rs1444170033
|
|
NM_000016.6(ACADM):c.165T>C (p.Phe55=)
|
rs2100362680
|
|
NM_000016.6(ACADM):c.168C>T (p.Ala56=)
|
|
|
NM_000016.6(ACADM):c.183C>T (p.Ile61=)
|
rs1647166593
|
|
NM_000016.6(ACADM):c.213T>G (p.Gly71=)
|
rs1316700534
|
|
NM_000016.6(ACADM):c.216+10T>G
|
rs2275378
|
|
NM_000016.6(ACADM):c.216+13A>G
|
|
|
NM_000016.6(ACADM):c.216+19A>C
|
|
|
NM_000016.6(ACADM):c.217-10T>C
|
rs1647169552
|
|
NM_000016.6(ACADM):c.217-12T>C
|
|
|
NM_000016.6(ACADM):c.217-12T>G
|
|
|
NM_000016.6(ACADM):c.217-13C>A
|
|
|
NM_000016.6(ACADM):c.217-16G>A
|
|
|
NM_000016.6(ACADM):c.217-4C>G
|
|
|
NM_000016.6(ACADM):c.217-8T>C
|
|
|
NM_000016.6(ACADM):c.225C>A (p.Val75=)
|
rs770293389
|
|
NM_000016.6(ACADM):c.225C>T (p.Val75=)
|
|
|
NM_000016.6(ACADM):c.270C>T (p.His90=)
|
|
|
NM_000016.6(ACADM):c.279G>A (p.Glu93=)
|
rs2100363744
|
|
NM_000016.6(ACADM):c.286+14A>G
|
rs1570862121
|
|
NM_000016.6(ACADM):c.286+9_286+10insTTTTT
|
rs2100363808
|
|
NM_000016.6(ACADM):c.287-12T>C
|
|
|
NM_000016.6(ACADM):c.287-5T>C
|
rs990706580
|
|
NM_000016.6(ACADM):c.291T>C (p.Gly97=)
|
|
|
NM_000016.6(ACADM):c.30+10A>G
|
rs759413479
|
|
NM_000016.6(ACADM):c.30+11G>A
|
|
|
NM_000016.6(ACADM):c.30+14C>T
|
|
|
NM_000016.6(ACADM):c.30+18G>A
|
rs762704029
|
|
NM_000016.6(ACADM):c.30+18G>C
|
|
|
NM_000016.6(ACADM):c.30+18G>T
|
|
|
NM_000016.6(ACADM):c.30+20T>C
|
rs1570843347
|
|
NM_000016.6(ACADM):c.30+8G>C
|
|
|
NM_000016.6(ACADM):c.30+9G>A
|
rs770961707
|
|
NM_000016.6(ACADM):c.30+9G>C
|
rs770961707
|
|
NM_000016.6(ACADM):c.31-12T>C
|
|
|
NM_000016.6(ACADM):c.31-16A>G
|
|
|
NM_000016.6(ACADM):c.31-17A>G
|
|
|
NM_000016.6(ACADM):c.31-19A>T
|
|
|
NM_000016.6(ACADM):c.31-20A>C
|
|
|
NM_000016.6(ACADM):c.31-4A>G
|
rs2100346922
|
|
NM_000016.6(ACADM):c.31-8C>T
|
rs1231281560
|
|
NM_000016.6(ACADM):c.321A>G (p.Leu107=)
|
rs2100365813
|
|
NM_000016.6(ACADM):c.33C>T (p.Val11=)
|
rs1557440940
|
|
NM_000016.6(ACADM):c.348T>C (p.Cys116=)
|
rs2100365971
|
|
NM_000016.6(ACADM):c.366T>A (p.Ala122=)
|
|
|
NM_000016.6(ACADM):c.366T>C (p.Ala122=)
|
rs1647188974
|
|
NM_000016.6(ACADM):c.387+11T>C
|
|
|
NM_000016.6(ACADM):c.388-19T>C
|
|
|
NM_000016.6(ACADM):c.388-4G>A
|
rs2100370415
|
|
NM_000016.6(ACADM):c.396T>C (p.Pro132=)
|
rs1647211756
|
|
NM_000016.6(ACADM):c.399T>C (p.Ile133=)
|
rs2100370611
|
|
NM_000016.6(ACADM):c.408T>C (p.Ala136=)
|
|
|
NM_000016.6(ACADM):c.417T>C (p.Asp139=)
|
|
|
NM_000016.6(ACADM):c.438G>A (p.Leu146=)
|
rs2100371014
|
|
NM_000016.6(ACADM):c.441G>T (p.Gly147=)
|
rs2100371058
|
|
NM_000016.6(ACADM):c.459A>G (p.Pro153=)
|
rs2100371183
|
|
NM_000016.6(ACADM):c.460T>C (p.Leu154=)
|
rs2100371196
|
|
NM_000016.6(ACADM):c.468+20G>A
|
|
|
NM_000016.6(ACADM):c.468+7_468+8del
|
rs1647214461
|
|
NM_000016.6(ACADM):c.469-16T>C
|
|
|
NM_000016.6(ACADM):c.469-19T>A
|
|
|
NM_000016.6(ACADM):c.469-19_469-18del
|
|
|
NM_000016.6(ACADM):c.469-20C>T
|
|
|
NM_000016.6(ACADM):c.469-6T>C
|
|
|
NM_000016.6(ACADM):c.469-8T>C
|
|
|
NM_000016.6(ACADM):c.469-9A>T
|
|
|
NM_000016.6(ACADM):c.471T>C (p.Ala157=)
|
rs2100389425
|
|
NM_000016.6(ACADM):c.477T>C (p.Cys159=)
|
|
|
NM_000016.6(ACADM):c.480A>C (p.Val160=)
|
rs2100389477
|
|
NM_000016.6(ACADM):c.489T>C (p.Pro163=)
|
|
|
NM_000016.6(ACADM):c.498C>G (p.Gly166=)
|
|
|
NM_000016.6(ACADM):c.498C>T (p.Gly166=)
|
|
|
NM_000016.6(ACADM):c.507A>G (p.Val169=)
|
|
|
NM_000016.6(ACADM):c.546G>A (p.Glu182=)
|
|
|
NM_000016.6(ACADM):c.54T>C (p.Phe18=)
|
|
|
NM_000016.6(ACADM):c.558T>C (p.Asn186=)
|
|
|
NM_000016.6(ACADM):c.579C>G (p.Thr193=)
|
rs534575785
|
|
NM_000016.6(ACADM):c.579C>T (p.Thr193=)
|
rs534575785
|
|
NM_000016.6(ACADM):c.599+11C>G
|
|
|
NM_000016.6(ACADM):c.599+12A>G
|
rs1403181967
|
|
NM_000016.6(ACADM):c.599+16C>T
|
|
|
NM_000016.6(ACADM):c.599+17A>T
|
|
|
NM_000016.6(ACADM):c.599+19C>T
|
|
|
NM_000016.6(ACADM):c.599+9T>C
|
rs752789232
|
|
NM_000016.6(ACADM):c.600-12T>G
|
|
|
NM_000016.6(ACADM):c.600-8T>C
|
|
|
NM_000016.6(ACADM):c.600-9A>G
|
|
|
NM_000016.6(ACADM):c.600-9A>T
|
rs772764643
|
|
NM_000016.6(ACADM):c.615A>G (p.Ala205=)
|
rs2100407904
|
|
NM_000016.6(ACADM):c.618T>C (p.Arg206=)
|
rs2100407938
|
|
NM_000016.6(ACADM):c.627A>G (p.Pro209=)
|
rs1337545473
|
|
NM_000016.6(ACADM):c.639T>C (p.Ala213=)
|
|
|
NM_000016.6(ACADM):c.681T>C (p.Asp227=)
|
|
|
NM_000016.6(ACADM):c.693T>C (p.Ile231=)
|
|
|
NM_000016.6(ACADM):c.6A>G (p.Ala2=)
|
rs752190688
|
|
NM_000016.6(ACADM):c.6A>T (p.Ala2=)
|
rs752190688
|
|
NM_000016.6(ACADM):c.702G>T (p.Gly234=)
|
|
|
NM_000016.6(ACADM):c.708+10T>A
|
rs1647876114
|
|
NM_000016.6(ACADM):c.708+11_708+14del
|
|
|
NM_000016.6(ACADM):c.708+15A>G
|
|
|
NM_000016.6(ACADM):c.708+19A>G
|
|
|
NM_000016.6(ACADM):c.708+8A>C
|
rs372454296
|
|
NM_000016.6(ACADM):c.708+9T>C
|
rs991394488
|
|
NM_000016.6(ACADM):c.709-13A>C
|
|
|
NM_000016.6(ACADM):c.709-18T>C
|
|
|
NM_000016.6(ACADM):c.709-19A>G
|
|
|
NM_000016.6(ACADM):c.709-4T>C
|
rs1648074655
|
|
NM_000016.6(ACADM):c.709-7T>C
|
|
|
NM_000016.6(ACADM):c.712T>C (p.Leu238=)
|
|
|
NM_000016.6(ACADM):c.729A>G (p.Arg243=)
|
rs2100417405
|
|
NM_000016.6(ACADM):c.732T>C (p.Cys244=)
|
rs2100417419
|
|
NM_000016.6(ACADM):c.738T>C (p.Asp246=)
|
|
|
NM_000016.6(ACADM):c.753C>A (p.Val251=)
|
|
|
NM_000016.6(ACADM):c.753C>T (p.Val251=)
|
rs2100417528
|
|
NM_000016.6(ACADM):c.762T>C (p.Asp254=)
|
|
|
NM_000016.6(ACADM):c.783T>C (p.Asn261=)
|
|
|
NM_000016.6(ACADM):c.81C>T (p.Ala27=)
|
|
|
NM_000016.6(ACADM):c.849+11T>A
|
|
|
NM_000016.6(ACADM):c.849+12G>A
|
|
|
NM_000016.6(ACADM):c.849+13G>A
|
|
|
NM_000016.6(ACADM):c.849+13G>C
|
|
|
NM_000016.6(ACADM):c.849+13G>T
|
|
|
NM_000016.6(ACADM):c.849+14G>A
|
|
|
NM_000016.6(ACADM):c.849+14_849+15insCCAT
|
|
|
NM_000016.6(ACADM):c.849+9T>A
|
|
|
NM_000016.6(ACADM):c.850-10A>T
|
|
|
NM_000016.6(ACADM):c.850-15A>G
|
|
|
NM_000016.6(ACADM):c.850-16_850-8dup
|
|
|
NM_000016.6(ACADM):c.850-19T>C
|
|
|
NM_000016.6(ACADM):c.850-3_850-2insTAAATACTTAAAAT
|
rs1553125391
|
|
NM_000016.6(ACADM):c.850-6T>C
|
|
|
NM_000016.6(ACADM):c.855T>C (p.Ala285=)
|
rs2100420216
|
|
NM_000016.6(ACADM):c.876A>G (p.Ala292=)
|
|
|
NM_000016.6(ACADM):c.879A>G (p.Gln293=)
|
rs1302160137
|
|
NM_000016.6(ACADM):c.900C>G (p.Thr300=)
|
|
|
NM_000016.6(ACADM):c.903G>A (p.Lys301=)
|
rs2100420394
|
|
NM_000016.6(ACADM):c.918G>A (p.Arg306=)
|
|
|
NM_000016.6(ACADM):c.936A>G (p.Leu312=)
|
|
|
NM_000016.6(ACADM):c.945+11T>G
|
|
|
NM_000016.6(ACADM):c.945+13C>T
|
|
|
NM_000016.6(ACADM):c.945+18T>C
|
rs2100420600
|
|
NM_000016.6(ACADM):c.945+18dup
|
|
|
NM_000016.6(ACADM):c.945+20C>G
|
|
|
NM_000016.6(ACADM):c.945+8T>G
|
rs1570893452
|
|
NM_000016.6(ACADM):c.946-10T>C
|
|
|
NM_000016.6(ACADM):c.946-13T>C
|
|
|
NM_000016.6(ACADM):c.946-14C>A
|
|
|
NM_000016.6(ACADM):c.946-14_946-12del
|
|
|
NM_000016.6(ACADM):c.946-20T>G
|
|
|
NM_000016.6(ACADM):c.946-4C>A
|
rs752961658
|
|
NM_000016.6(ACADM):c.946-6T>C
|
|
|
NM_000016.6(ACADM):c.946-9T>C
|
rs1057524311
|
|
NM_000016.6(ACADM):c.954A>G (p.Ala318=)
|
|
|
NM_000016.6(ACADM):c.972T>A (p.Ala324=)
|
|
|
NM_000016.6(ACADM):c.987A>G (p.Lys329=)
|
|
|
NM_000016.6(ACADM):c.990T>A (p.Val330=)
|
rs2100452828
|
|
NM_000016.6(ACADM):c.99A>G (p.Pro33=)
|
rs2100347227
|
|
NM_000017.4(ACADS):c.1029+18C>T
|
|
|
NM_000017.4(ACADS):c.1030-13C>T
|
|
|
NM_000017.4(ACADS):c.1030-20G>A
|
|
|
NM_000017.4(ACADS):c.1030-6G>A
|
rs1249811685
|
|
NM_000017.4(ACADS):c.1086+19C>A
|
|
|
NM_000017.4(ACADS):c.1116C>T (p.Tyr372=)
|
|
|
NM_000017.4(ACADS):c.1131G>A (p.Pro377=)
|
|
|
NM_000017.4(ACADS):c.1152C>T (p.Asp384=)
|
|
|
NM_000017.4(ACADS):c.1167G>A (p.Glu389=)
|
rs1195281334
|
|
NM_000017.4(ACADS):c.1170C>T (p.Ile390=)
|
|
|
NM_000017.4(ACADS):c.1179C>T (p.Gly393=)
|
|
|
NM_000017.4(ACADS):c.1198C>G (p.Leu400Val)
|
rs369840561
|
|
NM_000017.4(ACADS):c.126C>G (p.Leu42=)
|
|
|
NM_000017.4(ACADS):c.210+13C>T
|
rs1883114264
|
|
NM_000017.4(ACADS):c.243C>T (p.Ala81=)
|
|
|
NM_000017.4(ACADS):c.249C>T (p.Asp83=)
|
|
|
NM_000017.4(ACADS):c.267C>T (p.Gly89=)
|
|
|
NM_000017.4(ACADS):c.285C>T (p.Tyr95=)
|
|
|
NM_000017.4(ACADS):c.286C>T (p.Leu96=)
|
|
|
NM_000017.4(ACADS):c.294C>T (p.Tyr98=)
|
|
|
NM_000017.4(ACADS):c.360+16G>A
|
rs2136948385
|
|
NM_000017.4(ACADS):c.360+19C>G
|
|
|
NM_000017.4(ACADS):c.360+8C>G
|
|
|
NM_000017.4(ACADS):c.361-10G>C
|
|
|
NM_000017.4(ACADS):c.361-13G>A
|
|
|
NM_000017.4(ACADS):c.361-20G>A
|
|
|
NM_000017.4(ACADS):c.399G>A (p.Lys133=)
|
|
|
NM_000017.4(ACADS):c.402G>A (p.Glu134=)
|
|
|
NM_000017.4(ACADS):c.413C>T (p.Ala138Val)
|
|
|
NM_000017.4(ACADS):c.432C>T (p.Thr144=)
|
|
|
NM_000017.4(ACADS):c.46+16A>C
|
|
|
NM_000017.4(ACADS):c.46+9G>T
|
|
|
NM_000017.4(ACADS):c.47-14G>C
|
rs2136939265
|
|
NM_000017.4(ACADS):c.47-17T>C
|
|
|
NM_000017.4(ACADS):c.472+9C>G
|
|
|
NM_000017.4(ACADS):c.473-7T>C
|
|
|
NM_000017.4(ACADS):c.489A>C (p.Ala163=)
|
|
|
NM_000017.4(ACADS):c.528A>C (p.Ser176=)
|
|
|
NM_000017.4(ACADS):c.576T>C (p.Ala192=)
|
|
|
NM_000017.4(ACADS):c.603G>A (p.Thr201=)
|
|
|
NM_000017.4(ACADS):c.603G>T (p.Thr201=)
|
|
|
NM_000017.4(ACADS):c.612C>A (p.Ala204=)
|
|
|
NM_000017.4(ACADS):c.624+19G>A
|
|
|
NM_000017.4(ACADS):c.624+19G>C
|
|
|
NM_000017.4(ACADS):c.625-10C>T
|
|
|
NM_000017.4(ACADS):c.625-8C>A
|
|
|
NM_000017.4(ACADS):c.636C>T (p.Ala212=)
|
|
|
NM_000017.4(ACADS):c.670T>C (p.Leu224=)
|
|
|
NM_000017.4(ACADS):c.672G>A (p.Leu224=)
|
|
|
NM_000017.4(ACADS):c.702G>A (p.Arg234=)
|
rs1306227224
|
|
NM_000017.4(ACADS):c.795+8C>T
|
|
|
NM_000017.4(ACADS):c.795+9G>T
|
|
|
NM_000017.4(ACADS):c.796-12C>T
|
|
|
NM_000017.4(ACADS):c.840G>T (p.Leu280=)
|
|
|
NM_000017.4(ACADS):c.855C>T (p.Thr285=)
|
|
|
NM_000017.4(ACADS):c.861C>T (p.Leu287=)
|
|
|
NM_000017.4(ACADS):c.879C>T (p.Tyr293=)
|
|
|
NM_000017.4(ACADS):c.87C>T (p.Tyr29=)
|
|
|
NM_000017.4(ACADS):c.897C>A (p.Ala299=)
|
|
|
NM_000017.4(ACADS):c.984C>T (p.Thr328=)
|
|
|
NM_000017.4(ACADS):c.993T>C (p.Ala331=)
|
|
|
NM_000018.4(ACADVL):c.1005C>T (p.His335=)
|
|
|
NM_000018.4(ACADVL):c.1011C>T (p.Leu337=)
|
|
|
NM_000018.4(ACADVL):c.1017T>C (p.Asn339=)
|
rs2142980519
|
|
NM_000018.4(ACADVL):c.1023G>A (p.Arg341=)
|
rs373411700
|
|
NM_000018.4(ACADVL):c.102C>T (p.Gly34=)
|
rs2142961120
|
|
NM_000018.4(ACADVL):c.1062C>A (p.Gly354=)
|
rs2142980779
|
|
NM_000018.4(ACADVL):c.1074G>A (p.Lys358=)
|
|
|
NM_000018.4(ACADVL):c.1077+10C>G
|
|
|
NM_000018.4(ACADVL):c.1077+11T>A
|
|
|
NM_000018.4(ACADVL):c.1077+13C>T
|
|
|
NM_000018.4(ACADVL):c.1077+15C>A
|
|
|
NM_000018.4(ACADVL):c.1077+9C>G
|
rs2142980927
|
|
NM_000018.4(ACADVL):c.1078-10C>T
|
rs748209172
|
|
NM_000018.4(ACADVL):c.1078-15T>A
|
rs2071310800
|
|
NM_000018.4(ACADVL):c.1078-18G>A
|
|
|
NM_000018.4(ACADVL):c.1078-8T>C
|
rs1597531722
|
|
NM_000018.4(ACADVL):c.1078-9C>T
|
rs2071311236
|
|
NM_000018.4(ACADVL):c.1080A>G (p.Val360=)
|
|
|
NM_000018.4(ACADVL):c.1080A>T (p.Val360=)
|
rs2142981942
|
|
NM_000018.4(ACADVL):c.1089C>T (p.Ala363=)
|
rs774273664
|
|
NM_000018.4(ACADVL):c.108C>T (p.Ala36=)
|
|
|
NM_000018.4(ACADVL):c.1092T>C (p.Thr364=)
|
rs745742925
|
|
NM_000018.4(ACADVL):c.1098T>C (p.Arg366=)
|
rs2142982087
|
|
NM_000018.4(ACADVL):c.1101C>A (p.Thr367=)
|
|
|
NM_000018.4(ACADVL):c.1128T>C (p.Phe376=)
|
|
|
NM_000018.4(ACADVL):c.1131G>A (p.Gly377=)
|
rs2142982245
|
|
NM_000018.4(ACADVL):c.1140G>A (p.Gln380=)
|
rs748299183
|
|
NM_000018.4(ACADVL):c.1146G>A (p.Lys382=)
|
rs1057523504
|
|
NM_000018.4(ACADVL):c.1147C>T (p.Leu383=)
|
rs756194870
|
|
NM_000018.4(ACADVL):c.1153C>A (p.Arg385=)
|
|
|
NM_000018.4(ACADVL):c.1167G>A (p.Leu389=)
|
rs2142982468
|
|
NM_000018.4(ACADVL):c.1173T>C (p.Tyr391=)
|
rs2071316298
|
|
NM_000018.4(ACADVL):c.1176A>G (p.Val392=)
|
rs2071316566
|
|
NM_000018.4(ACADVL):c.1179T>C (p.Thr393=)
|
|
|
NM_000018.4(ACADVL):c.1182+16G>T
|
|
|
NM_000018.4(ACADVL):c.1182+18C>G
|
|
|
NM_000018.4(ACADVL):c.1182+18C>T
|
|
|
NM_000018.4(ACADVL):c.1183-11T>C
|
|
|
NM_000018.4(ACADVL):c.1183-4T>A
|
rs2142984151
|
|
NM_000018.4(ACADVL):c.1200G>A (p.Val400=)
|
rs1597533902
|
|
NM_000018.4(ACADVL):c.1200G>C (p.Val400=)
|
rs1597533902
|
|
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=)
|
rs2071338251
|
|
NM_000018.4(ACADVL):c.1218G>A (p.Gln406=)
|
rs1597533984
|
|
NM_000018.4(ACADVL):c.1224C>A (p.Ala408=)
|
|
|
NM_000018.4(ACADVL):c.1227G>C (p.Thr409=)
|
|
|
NM_000018.4(ACADVL):c.1242G>A (p.Glu414=)
|
rs2142984490
|
|
NM_000018.4(ACADVL):c.1245C>A (p.Ala415=)
|
rs1481416358
|
|
NM_000018.4(ACADVL):c.1248C>T (p.Ala416=)
|
|
|
NM_000018.4(ACADVL):c.1257A>G (p.Lys419=)
|
rs2142984575
|
|
NM_000018.4(ACADVL):c.1263T>C (p.Phe421=)
|
|
|
NM_000018.4(ACADVL):c.1266C>T (p.Gly422=)
|
|
|
NM_000018.4(ACADVL):c.1269+10C>T
|
rs1555528738
|
|
NM_000018.4(ACADVL):c.1269+11A>G
|
|
|
NM_000018.4(ACADVL):c.1269+13G>C
|
|
|
NM_000018.4(ACADVL):c.1269+14C>A
|
|
|
NM_000018.4(ACADVL):c.1269+15A>G
|
|
|
NM_000018.4(ACADVL):c.1269+16T>C
|
rs2142984714
|
|
NM_000018.4(ACADVL):c.1269+20G>A
|
|
|
NM_000018.4(ACADVL):c.1269+22dup
|
rs780870246
|
|
NM_000018.4(ACADVL):c.1269+7T>G
|
|
|
NM_000018.4(ACADVL):c.1269+9C>G
|
rs2142984643
|
|
NM_000018.4(ACADVL):c.126G>T (p.Gly42=)
|
|
|
NM_000018.4(ACADVL):c.1270-17C>G
|
|
|
NM_000018.4(ACADVL):c.1270-17C>T
|
|
|
NM_000018.4(ACADVL):c.1270-18T>C
|
|
|
NM_000018.4(ACADVL):c.1270-20C>T
|
|
|
NM_000018.4(ACADVL):c.1270-6C>T
|
|
|
NM_000018.4(ACADVL):c.1270-9T>G
|
rs2142984921
|
|
NM_000018.4(ACADVL):c.1278C>T (p.Ala426=)
|
|
|
NM_000018.4(ACADVL):c.1287G>A (p.Val429=)
|
rs999226548
|
|
NM_000018.4(ACADVL):c.1293T>C (p.Asp431=)
|
rs2142985083
|
|
NM_000018.4(ACADVL):c.129T>A (p.Gly43=)
|
rs727503789
|
|
NM_000018.4(ACADVL):c.1308C>A (p.Ile436=)
|
rs2142985123
|
|
NM_000018.4(ACADVL):c.1308C>T (p.Ile436=)
|
|
|
NM_000018.4(ACADVL):c.1314G>A (p.Gly438=)
|
rs2142985177
|
|
NM_000018.4(ACADVL):c.1317T>A (p.Gly439=)
|
rs2142985210
|
|
NM_000018.4(ACADVL):c.1317T>C (p.Gly439=)
|
rs2142985210
|
|
NM_000018.4(ACADVL):c.1323C>T (p.Gly441=)
|
|
|
NM_000018.4(ACADVL):c.132C>T (p.Ala44=)
|
rs1237892223
|
|
NM_000018.4(ACADVL):c.1332+10G>C
|
rs763921736
|
|
NM_000018.4(ACADVL):c.1332+11G>T
|
|
|
NM_000018.4(ACADVL):c.1332+16C>T
|
|
|
NM_000018.4(ACADVL):c.1332+19C>G
|
|
|
NM_000018.4(ACADVL):c.1332+7G>A
|
rs1382340897
|
|
NM_000018.4(ACADVL):c.1332+9_1332+10insTCC
|
|
|
NM_000018.4(ACADVL):c.1333-10C>T
|
|
|
NM_000018.4(ACADVL):c.1333-16T>C
|
|
|
NM_000018.4(ACADVL):c.1333-17G>A
|
|
|
NM_000018.4(ACADVL):c.1333-18T>C
|
|
|
NM_000018.4(ACADVL):c.1333-20T>C
|
|
|
NM_000018.4(ACADVL):c.1333-21_1333-20del
|
|
|
NM_000018.4(ACADVL):c.1333-5G>T
|
|
|
NM_000018.4(ACADVL):c.1333-7G>A
|
rs1228196483
|
|
NM_000018.4(ACADVL):c.1333-7G>C
|
|
|
NM_000018.4(ACADVL):c.1333-8T>C
|
|
|
NM_000018.4(ACADVL):c.1335A>G (p.Glu445=)
|
|
|
NM_000018.4(ACADVL):c.1338T>C (p.Pro446=)
|
rs2142985783
|
|
NM_000018.4(ACADVL):c.1347G>A (p.Glu449=)
|
|
|
NM_000018.4(ACADVL):c.1374C>T (p.Phe458=)
|
|
|
NM_000018.4(ACADVL):c.1377G>C (p.Arg459=)
|
rs2142985989
|
|
NM_000018.4(ACADVL):c.138+10C>A
|
rs1057523013
|
|
NM_000018.4(ACADVL):c.138+10C>T
|
rs1057523013
|
|
NM_000018.4(ACADVL):c.138+11G>T
|
|
|
NM_000018.4(ACADVL):c.138+15C>T
|
|
|
NM_000018.4(ACADVL):c.138+16C>A
|
|
|
NM_000018.4(ACADVL):c.138+17T>C
|
rs2142961713
|
|
NM_000018.4(ACADVL):c.138+7C>T
|
rs1462406529
|
|
NM_000018.4(ACADVL):c.1380C>T (p.Ile460=)
|
rs2071355303
|
|
NM_000018.4(ACADVL):c.1389G>C (p.Gly463=)
|
rs377305356
|
|
NM_000018.4(ACADVL):c.139-11T>C
|
|
|
NM_000018.4(ACADVL):c.139-12C>G
|
|
|
NM_000018.4(ACADVL):c.139-14G>C
|
rs1015495051
|
|
NM_000018.4(ACADVL):c.139-15C>T
|
|
|
NM_000018.4(ACADVL):c.139-16C>A
|
|
|
NM_000018.4(ACADVL):c.139-16C>T
|
|
|
NM_000018.4(ACADVL):c.139-5C>G
|
rs769138546
|
|
NM_000018.4(ACADVL):c.139-5C>T
|
|
|
NM_000018.4(ACADVL):c.139-7T>C
|
rs2142963859
|
|
NM_000018.4(ACADVL):c.1395T>C (p.Asn465=)
|
rs1301241478
|
|
NM_000018.4(ACADVL):c.1398C>T (p.Asp466=)
|
rs2142986089
|
|
NM_000018.4(ACADVL):c.1407G>A (p.Arg469=)
|
rs1597535653
|
|
NM_000018.4(ACADVL):c.1410G>C (p.Leu470=)
|
rs1281251073
|
|
NM_000018.4(ACADVL):c.1416G>C (p.Val472=)
|
rs778848546
|
|
NM_000018.4(ACADVL):c.141G>T (p.Leu47=)
|
|
|
NM_000018.4(ACADVL):c.1420C>T (p.Leu474=)
|
rs771882915
|
|
NM_000018.4(ACADVL):c.1422G>A (p.Leu474=)
|
rs2142986233
|
|
NM_000018.4(ACADVL):c.1434+11_1434+12del
|
rs1567567959
|
|
NM_000018.4(ACADVL):c.1434+12A>C
|
|
|
NM_000018.4(ACADVL):c.1434+15dup
|
|
|
NM_000018.4(ACADVL):c.1434+18G>A
|
|
|
NM_000018.4(ACADVL):c.1434+19T>C
|
|
|
NM_000018.4(ACADVL):c.1434+20G>A
|
|
|
NM_000018.4(ACADVL):c.1434+20G>C
|
|
|
NM_000018.4(ACADVL):c.1434+20G>T
|
|
|
NM_000018.4(ACADVL):c.1434+6_1434+8dup
|
|
|
NM_000018.4(ACADVL):c.1435-15C>A
|
|
|
NM_000018.4(ACADVL):c.1435-15C>T
|
rs548935465
|
|
NM_000018.4(ACADVL):c.1435-16C>T
|
|
|
NM_000018.4(ACADVL):c.1435-19G>A
|
rs1223218362
|
|
NM_000018.4(ACADVL):c.1435-19G>T
|
|
|
NM_000018.4(ACADVL):c.1435-20T>C
|
|
|
NM_000018.4(ACADVL):c.1435-4A>G
|
|
|
NM_000018.4(ACADVL):c.1435-4A>T
|
rs1412310624
|
|
NM_000018.4(ACADVL):c.1435-4del
|
|
|
NM_000018.4(ACADVL):c.1435-5C>T
|
|
|
NM_000018.4(ACADVL):c.1435-9C>A
|
rs1280800189
|
|
NM_000018.4(ACADVL):c.1435-9C>T
|
rs1280800189
|
|
NM_000018.4(ACADVL):c.1437C>T (p.Asp479=)
|
rs779807335
|
|
NM_000018.4(ACADVL):c.1446G>A (p.Lys482=)
|
|
|
NM_000018.4(ACADVL):c.1452C>T (p.Leu484=)
|
rs1555528820
|
|
NM_000018.4(ACADVL):c.1455T>C (p.Ser485=)
|
|
|
NM_000018.4(ACADVL):c.1464C>G (p.Gly488=)
|
|
|
NM_000018.4(ACADVL):c.1467T>C (p.Ser489=)
|
|
|
NM_000018.4(ACADVL):c.1476G>A (p.Lys492=)
|
rs764757180
|
|
NM_000018.4(ACADVL):c.1482C>T (p.Pro494=)
|
rs2071364748
|
|
NM_000018.4(ACADVL):c.1503G>C (p.Leu501=)
|
rs2142987026
|
|
NM_000018.4(ACADVL):c.1527G>A (p.Leu509=)
|
rs1447518560
|
|
NM_000018.4(ACADVL):c.1530G>A (p.Arg510=)
|
rs2142987170
|
|
NM_000018.4(ACADVL):c.1532+10G>A
|
rs775913504
|
|
NM_000018.4(ACADVL):c.1532+19C>T
|
|
|
NM_000018.4(ACADVL):c.1532+20C>G
|
rs1291717212
|
|
NM_000018.4(ACADVL):c.1532+7T>A
|
rs534469222
|
|
NM_000018.4(ACADVL):c.1532+7T>C
|
rs534469222
|
|
NM_000018.4(ACADVL):c.1533-12T>C
|
|
|
NM_000018.4(ACADVL):c.1533-13C>T
|
|
|
NM_000018.4(ACADVL):c.1533-15C>T
|
rs2142987494
|
|
NM_000018.4(ACADVL):c.1533-4T>C
|
|
|
NM_000018.4(ACADVL):c.1533-6T>C
|
|
|
NM_000018.4(ACADVL):c.1533-7del
|
|
|
NM_000018.4(ACADVL):c.1536G>A (p.Arg512=)
|
|
|
NM_000018.4(ACADVL):c.1536G>C (p.Arg512=)
|
|
|
NM_000018.4(ACADVL):c.1557G>A (p.Leu519=)
|
|
|
NM_000018.4(ACADVL):c.156A>C (p.Ser52=)
|
|
|
NM_000018.4(ACADVL):c.156A>G (p.Ser52=)
|
|
|
NM_000018.4(ACADVL):c.1572T>C (p.Leu524=)
|
|
|
NM_000018.4(ACADVL):c.1585T>C (p.Leu529=)
|
rs2142987882
|
|
NM_000018.4(ACADVL):c.1605+11A>T
|
|
|
NM_000018.4(ACADVL):c.1605+12G>A
|
|
|
NM_000018.4(ACADVL):c.1605+13G>A
|
|
|
NM_000018.4(ACADVL):c.1605+15G>T
|
|
|
NM_000018.4(ACADVL):c.1605+20G>A
|
|
|
NM_000018.4(ACADVL):c.1605+8G>A
|
rs1329414728
|
|
NM_000018.4(ACADVL):c.1605+9C>T
|
rs1370192669
|
|
NM_000018.4(ACADVL):c.1606-11C>T
|
|
|
NM_000018.4(ACADVL):c.1606-16G>A
|
|
|
NM_000018.4(ACADVL):c.1606-17T>C
|
|
|
NM_000018.4(ACADVL):c.1606-19A>G
|
|
|
NM_000018.4(ACADVL):c.1606-5T>C
|
|
|
NM_000018.4(ACADVL):c.1606-5_1606-4del
|
|
|
NM_000018.4(ACADVL):c.1620G>A (p.Leu540=)
|
|
|
NM_000018.4(ACADVL):c.1623G>A (p.Glu541=)
|
|
|
NM_000018.4(ACADVL):c.162C>T (p.Ser54=)
|
rs2142964086
|
|
NM_000018.4(ACADVL):c.1638G>C (p.Val546=)
|
rs2142988749
|
|
NM_000018.4(ACADVL):c.1641G>A (p.Val547=)
|
|
|
NM_000018.4(ACADVL):c.1644G>A (p.Glu548=)
|
rs2071384402
|
|
NM_000018.4(ACADVL):c.1650G>A (p.Lys550=)
|
|
|
NM_000018.4(ACADVL):c.165C>T (p.His55=)
|
rs1303022654
|
|
NM_000018.4(ACADVL):c.1662C>T (p.His554=)
|
|
|
NM_000018.4(ACADVL):c.1668G>A (p.Lys556=)
|
rs1295605212
|
|
NM_000018.4(ACADVL):c.1678+14A>G
|
|
|
NM_000018.4(ACADVL):c.1678+17C>G
|
rs776565824
|
|
NM_000018.4(ACADVL):c.1678+17C>T
|
|
|
NM_000018.4(ACADVL):c.1678+18C>T
|
|
|
NM_000018.4(ACADVL):c.1678+7G>A
|
rs771685940
|
|
NM_000018.4(ACADVL):c.1678+9_1678+10delinsAG
|
rs2142989035
|
|
NM_000018.4(ACADVL):c.1678+9_1678+10delinsCG
|
rs2142989035
|
|
NM_000018.4(ACADVL):c.1679-10T>C
|
|
|
NM_000018.4(ACADVL):c.1679-11C>G
|
|
|
NM_000018.4(ACADVL):c.1679-13A>C
|
rs768421738
|
|
NM_000018.4(ACADVL):c.1679-13A>G
|
|
|
NM_000018.4(ACADVL):c.1679-16C>G
|
|
|
NM_000018.4(ACADVL):c.1679-18A>C
|
|
|
NM_000018.4(ACADVL):c.1679-19C>T
|
|
|
NM_000018.4(ACADVL):c.1679-5G>A
|
rs1302758825
|
|
NM_000018.4(ACADVL):c.1679-5del
|
rs1555528999
|
|
NM_000018.4(ACADVL):c.1679-7C>T
|
rs776276526
|
|
NM_000018.4(ACADVL):c.1683A>G (p.Glu561=)
|
rs1597539259
|
|
NM_000018.4(ACADVL):c.168C>A (p.Pro56=)
|
|
|
NM_000018.4(ACADVL):c.168C>T (p.Pro56=)
|
rs544122648
|
|
NM_000018.4(ACADVL):c.1693C>T (p.Leu565=)
|
rs2142989804
|
|
NM_000018.4(ACADVL):c.1695G>T (p.Leu565=)
|
rs1279657316
|
|
NM_000018.4(ACADVL):c.1704G>A (p.Leu568=)
|
rs2142989842
|
|
NM_000018.4(ACADVL):c.1707A>C (p.Ala569=)
|
|
|
NM_000018.4(ACADVL):c.1716C>G (p.Ala572=)
|
|
|
NM_000018.4(ACADVL):c.1716C>T (p.Ala572=)
|
rs2142989897
|
|
NM_000018.4(ACADVL):c.171T>A (p.Ser57=)
|
|
|
NM_000018.4(ACADVL):c.1722C>T (p.Asp574=)
|
rs2142989956
|
|
NM_000018.4(ACADVL):c.1728T>C (p.Tyr576=)
|
|
|
NM_000018.4(ACADVL):c.1740G>T (p.Val580=)
|
|
|
NM_000018.4(ACADVL):c.1746C>T (p.Leu582=)
|
|
|
NM_000018.4(ACADVL):c.1749G>A (p.Ser583=)
|
rs771471327
|
|
NM_000018.4(ACADVL):c.174C>T (p.Asp58=)
|
|
|
NM_000018.4(ACADVL):c.1751+12G>C
|
|
|
NM_000018.4(ACADVL):c.1751+16G>C
|
|
|
NM_000018.4(ACADVL):c.1751+16G>T
|
|
|
NM_000018.4(ACADVL):c.1751+7A>G
|
|
|
NM_000018.4(ACADVL):c.1751+7_1751+9del
|
|
|
NM_000018.4(ACADVL):c.1751+9G>C
|
|
|
NM_000018.4(ACADVL):c.1752-10T>C
|
|
|
NM_000018.4(ACADVL):c.1752-14C>T
|
|
|
NM_000018.4(ACADVL):c.1752-15C>G
|
|
|
NM_000018.4(ACADVL):c.1752-19A>G
|
|
|
NM_000018.4(ACADVL):c.1752-19A>T
|
|
|
NM_000018.4(ACADVL):c.1752-20C>A
|
|
|
NM_000018.4(ACADVL):c.1752-4C>T
|
|
|
NM_000018.4(ACADVL):c.1752-5G>A
|
|
|
NM_000018.4(ACADVL):c.1752-8C>A
|
|
|
NM_000018.4(ACADVL):c.1755C>T (p.Ala585=)
|
rs886038215
|
|
NM_000018.4(ACADVL):c.1764C>T (p.Ser588=)
|
|
|
NM_000018.4(ACADVL):c.1770T>C (p.Ser590=)
|
|
|
NM_000018.4(ACADVL):c.1773G>A (p.Glu591=)
|
|
|
NM_000018.4(ACADVL):c.1776C>T (p.Gly592=)
|
|
|
NM_000018.4(ACADVL):c.1782C>G (p.Pro594=)
|
rs1373644425
|
|
NM_000018.4(ACADVL):c.1788C>G (p.Ala596=)
|
rs1597540282
|
|
NM_000018.4(ACADVL):c.1806C>G (p.Leu602=)
|
|
|
NM_000018.4(ACADVL):c.180G>A (p.Leu60=)
|
|
|
NM_000018.4(ACADVL):c.180G>C (p.Leu60=)
|
rs886053372
|
|
NM_000018.4(ACADVL):c.1815C>G (p.Thr605=)
|
rs2142990923
|
|
NM_000018.4(ACADVL):c.1815C>T (p.Thr605=)
|
rs2142990923
|
|
NM_000018.4(ACADVL):c.1821T>C (p.Cys607=)
|
|
|
NM_000018.4(ACADVL):c.1828-14T>C
|
|
|
NM_000018.4(ACADVL):c.1828-17T>G
|
|
|
NM_000018.4(ACADVL):c.1828-18C>G
|
|
|
NM_000018.4(ACADVL):c.1828-4C>A
|
|
|
NM_000018.4(ACADVL):c.1828-7_1828-5dup
|
|
|
NM_000018.4(ACADVL):c.1839G>T (p.Arg613=)
|
|
|
NM_000018.4(ACADVL):c.1857C>G (p.Ala619=)
|
rs375730795
|
|
NM_000018.4(ACADVL):c.1861C>T (p.Leu621=)
|
|
|
NM_000018.4(ACADVL):c.1872C>T (p.Asp624=)
|
|
|
NM_000018.4(ACADVL):c.1875C>A (p.Pro625=)
|
|
|
NM_000018.4(ACADVL):c.1875C>G (p.Pro625=)
|
rs2071410938
|
|
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=)
|
rs931018661
|
|
NM_000018.4(ACADVL):c.1887G>A (p.Glu629=)
|
|
|
NM_000018.4(ACADVL):c.1890C>G (p.Leu630=)
|
|
|
NM_000018.4(ACADVL):c.1899C>T (p.Asn633=)
|
rs2142991198
|
|
NM_000018.4(ACADVL):c.189A>G (p.Lys63=)
|
rs727503790
|
|
NM_000018.4(ACADVL):c.1908C>T (p.Ser636=)
|
|
|
NM_000018.4(ACADVL):c.1911C>T (p.Ile637=)
|
rs2142991217
|
|
NM_000018.4(ACADVL):c.1914C>A (p.Ser638=)
|
|
|
NM_000018.4(ACADVL):c.1917G>A (p.Lys639=)
|
|
|
NM_000018.4(ACADVL):c.1921T>C (p.Leu641=)
|
|
|
NM_000018.4(ACADVL):c.1929G>A (p.Glu643=)
|
rs1208010882
|
|
NM_000018.4(ACADVL):c.192A>G (p.Lys64=)
|
rs2071148553
|
|
NM_000018.4(ACADVL):c.1932G>C (p.Arg644=)
|
rs886053375
|
|
NM_000018.4(ACADVL):c.1941G>A (p.Val647=)
|
rs2142991254
|
|
NM_000018.4(ACADVL):c.1944C>T (p.Val648=)
|
rs1171256173
|
|
NM_000018.4(ACADVL):c.1953C>T (p.Asn651=)
|
rs1417091241
|
|
NM_000018.4(ACADVL):c.1956A>G (p.Pro652=)
|
rs2071415834
|
|
NM_000018.4(ACADVL):c.198C>T (p.Ala66=)
|
rs2142964530
|
|
NM_000018.4(ACADVL):c.204+11C>A
|
|
|
NM_000018.4(ACADVL):c.204+12C>A
|
|
|
NM_000018.4(ACADVL):c.204+12C>G
|
|
|
NM_000018.4(ACADVL):c.204+12C>T
|
|
|
NM_000018.4(ACADVL):c.204+13G>C
|
|
|
NM_000018.4(ACADVL):c.204+14A>G
|
|
|
NM_000018.4(ACADVL):c.204+18C>A
|
|
|
NM_000018.4(ACADVL):c.204+18C>T
|
rs2071151141
|
|
NM_000018.4(ACADVL):c.204+19A>G
|
|
|
NM_000018.4(ACADVL):c.204+19A>T
|
|
|
NM_000018.4(ACADVL):c.204+8G>T
|
|
|
NM_000018.4(ACADVL):c.204+9C>T
|
|
|
NM_000018.4(ACADVL):c.205-10C>T
|
rs2142965181
|
|
NM_000018.4(ACADVL):c.205-12C>T
|
rs2142965144
|
|
NM_000018.4(ACADVL):c.205-20A>C
|
|
|
NM_000018.4(ACADVL):c.205-3dup
|
rs2142965291
|
|
NM_000018.4(ACADVL):c.205-5C>T
|
|
|
NM_000018.4(ACADVL):c.205-6G>C
|
|
|
NM_000018.4(ACADVL):c.205-6G>T
|
|
|
NM_000018.4(ACADVL):c.205-8_205-7delinsGC
|
rs2142965218
|
|
NM_000018.4(ACADVL):c.210T>G (p.Ser70=)
|
|
|
NM_000018.4(ACADVL):c.216C>G (p.Ser72=)
|
|
|
NM_000018.4(ACADVL):c.222T>C (p.Ala74=)
|
|
|
NM_000018.4(ACADVL):c.234C>T (p.Phe78=)
|
rs2142965570
|
|
NM_000018.4(ACADVL):c.243G>A (p.Gln81=)
|
rs1318553246
|
|
NM_000018.4(ACADVL):c.24G>A (p.Ala8=)
|
|
|
NM_000018.4(ACADVL):c.24G>C (p.Ala8=)
|
rs903824712
|
|
NM_000018.4(ACADVL):c.252A>C (p.Thr84=)
|
|
|
NM_000018.4(ACADVL):c.258G>A (p.Gln86=)
|
|
|
NM_000018.4(ACADVL):c.273G>C (p.Pro91=)
|
rs778993830
|
|
NM_000018.4(ACADVL):c.277+10G>A
|
rs1597519525
|
|
NM_000018.4(ACADVL):c.277+11G>A
|
|
|
NM_000018.4(ACADVL):c.277+14T>A
|
|
|
NM_000018.4(ACADVL):c.277+18C>A
|
rs2142966096
|
|
NM_000018.4(ACADVL):c.277+9del
|
|
|
NM_000018.4(ACADVL):c.278-10C>T
|
rs2071166695
|
|
NM_000018.4(ACADVL):c.278-12C>A
|
|
|
NM_000018.4(ACADVL):c.278-12C>G
|
|
|
NM_000018.4(ACADVL):c.278-14C>T
|
|
|
NM_000018.4(ACADVL):c.278-15C>T
|
|
|
NM_000018.4(ACADVL):c.278-16C>A
|
rs1428008149
|
|
NM_000018.4(ACADVL):c.278-16C>T
|
rs1428008149
|
|
NM_000018.4(ACADVL):c.278-18G>A
|
|
|
NM_000018.4(ACADVL):c.278-18G>T
|
|
|
NM_000018.4(ACADVL):c.278-20C>T
|
|
|
NM_000018.4(ACADVL):c.278-31_278-18del
|
rs2071164779
|
|
NM_000018.4(ACADVL):c.278-4G>A
|
rs2142966745
|
|
NM_000018.4(ACADVL):c.278-9C>T
|
|
|
NM_000018.4(ACADVL):c.27C>T (p.Ser9=)
|
|
|
NM_000018.4(ACADVL):c.28T>C (p.Leu10=)
|
rs1265116066
|
|
NM_000018.4(ACADVL):c.294G>A (p.Gln98=)
|
rs794727695
|
|
NM_000018.4(ACADVL):c.309A>G (p.Lys103=)
|
rs2142967187
|
|
NM_000018.4(ACADVL):c.30G>A (p.Leu10=)
|
rs2142959363
|
|
NM_000018.4(ACADVL):c.312G>A (p.Glu104=)
|
|
|
NM_000018.4(ACADVL):c.315G>T (p.Leu105=)
|
rs754620326
|
|
NM_000018.4(ACADVL):c.324T>C (p.Pro108=)
|
rs764628802
|
|
NM_000018.4(ACADVL):c.324T>G (p.Pro108=)
|
rs764628802
|
|
NM_000018.4(ACADVL):c.327G>A (p.Val109=)
|
|
|
NM_000018.4(ACADVL):c.330C>T (p.Ser110=)
|
|
|
NM_000018.4(ACADVL):c.333T>C (p.Arg111=)
|
rs2142967414
|
|
NM_000018.4(ACADVL):c.336C>T (p.Phe112=)
|
rs537031882
|
|
NM_000018.4(ACADVL):c.342+10G>A
|
|
|
NM_000018.4(ACADVL):c.342+12C>G
|
|
|
NM_000018.4(ACADVL):c.342+17G>C
|
|
|
NM_000018.4(ACADVL):c.342+17G>T
|
rs368213180
|
|
NM_000018.4(ACADVL):c.343-10C>A
|
rs2142968470
|
|
NM_000018.4(ACADVL):c.343-10C>T
|
rs2142968470
|
|
NM_000018.4(ACADVL):c.343-11G>C
|
|
|
NM_000018.4(ACADVL):c.343-15C>T
|
|
|
NM_000018.4(ACADVL):c.343-20G>C
|
|
|
NM_000018.4(ACADVL):c.343-6C>T
|
|
|
NM_000018.4(ACADVL):c.343-7T>C
|
rs2142968501
|
|
NM_000018.4(ACADVL):c.343-8T>A
|
|
|
NM_000018.4(ACADVL):c.348G>A (p.Val116=)
|
|
|
NM_000018.4(ACADVL):c.351C>T (p.Asn117=)
|
rs779745734
|
|
NM_000018.4(ACADVL):c.357C>G (p.Pro119=)
|
|
|
NM_000018.4(ACADVL):c.357C>T (p.Pro119=)
|
rs1443253379
|
|
NM_000018.4(ACADVL):c.363G>A (p.Lys121=)
|
rs768219726
|
|
NM_000018.4(ACADVL):c.366T>C (p.Asn122=)
|
|
|
NM_000018.4(ACADVL):c.372T>C (p.Ala124=)
|
rs2142968911
|
|
NM_000018.4(ACADVL):c.375G>A (p.Leu125=)
|
|
|
NM_000018.4(ACADVL):c.384G>A (p.Val128=)
|
|
|
NM_000018.4(ACADVL):c.387G>A (p.Glu129=)
|
|
|
NM_000018.4(ACADVL):c.390G>A (p.Glu130=)
|
rs2142969071
|
|
NM_000018.4(ACADVL):c.393C>T (p.Thr131=)
|
rs754931255
|
|
NM_000018.4(ACADVL):c.396T>C (p.Thr132=)
|
rs1202646536
|
|
NM_000018.4(ACADVL):c.396T>G (p.Thr132=)
|
rs1202646536
|
|
NM_000018.4(ACADVL):c.39G>A (p.Gln13=)
|
rs1481490993
|
|
NM_000018.4(ACADVL):c.402G>A (p.Gln134=)
|
rs2142969249
|
|
NM_000018.4(ACADVL):c.411G>A (p.Lys137=)
|
rs2142969322
|
|
NM_000018.4(ACADVL):c.414G>A (p.Glu138=)
|
rs767727881
|
|
NM_000018.4(ACADVL):c.417G>A (p.Leu139=)
|
|
|
NM_000018.4(ACADVL):c.432G>A (p.Leu144=)
|
rs778968978
|
|
NM_000018.4(ACADVL):c.438G>A (p.Val146=)
|
|
|
NM_000018.4(ACADVL):c.444T>C (p.Ser148=)
|
rs2142969724
|
|
NM_000018.4(ACADVL):c.447G>A (p.Glu149=)
|
rs2142969733
|
|
NM_000018.4(ACADVL):c.450G>A (p.Leu150=)
|
|
|
NM_000018.4(ACADVL):c.459G>A (p.Val153=)
|
rs2142969815
|
|
NM_000018.4(ACADVL):c.465T>C (p.Leu155=)
|
|
|
NM_000018.4(ACADVL):c.471C>T (p.Asn157=)
|
|
|
NM_000018.4(ACADVL):c.477+12C>T
|
|
|
NM_000018.4(ACADVL):c.477+15T>G
|
|
|
NM_000018.4(ACADVL):c.477+17G>A
|
rs375076326
|
|
NM_000018.4(ACADVL):c.477+17G>T
|
|
|
NM_000018.4(ACADVL):c.477+20A>G
|
|
|
NM_000018.4(ACADVL):c.477+7G>A
|
rs1279805508
|
|
NM_000018.4(ACADVL):c.477+7G>T
|
rs1279805508
|
|
NM_000018.4(ACADVL):c.478-11T>C
|
|
|
NM_000018.4(ACADVL):c.478-13G>A
|
|
|
NM_000018.4(ACADVL):c.478-13G>C
|
|
|
NM_000018.4(ACADVL):c.478-16C>G
|
|
|
NM_000018.4(ACADVL):c.478-20G>C
|
rs746194631
|
|
NM_000018.4(ACADVL):c.478-4C>T
|
|
|
NM_000018.4(ACADVL):c.478-6C>T
|
rs2142973845
|
|
NM_000018.4(ACADVL):c.478-7C>T
|
|
|
NM_000018.4(ACADVL):c.478-8C>T
|
|
|
NM_000018.4(ACADVL):c.492G>A (p.Val164=)
|
|
|
NM_000018.4(ACADVL):c.498C>A (p.Ile166=)
|
rs370565071
|
|
NM_000018.4(ACADVL):c.498C>T (p.Ile166=)
|
rs370565071
|
|
NM_000018.4(ACADVL):c.501G>A (p.Val167=)
|
rs2142974194
|
|
NM_000018.4(ACADVL):c.501G>C (p.Val167=)
|
rs2142974194
|
|
NM_000018.4(ACADVL):c.504C>T (p.Gly168=)
|
|
|
NM_000018.4(ACADVL):c.510T>C (p.His170=)
|
|
|
NM_000018.4(ACADVL):c.51C>G (p.Leu17=)
|
|
|
NM_000018.4(ACADVL):c.531C>G (p.Thr177=)
|
rs2071228805
|
|
NM_000018.4(ACADVL):c.537G>A (p.Gly179=)
|
rs1597525140
|
|
NM_000018.4(ACADVL):c.564C>G (p.Gly188=)
|
|
|
NM_000018.4(ACADVL):c.567C>T (p.Ile189=)
|
rs2142974641
|
|
NM_000018.4(ACADVL):c.579C>T (p.Gly193=)
|
|
|
NM_000018.4(ACADVL):c.582A>C (p.Thr194=)
|
rs113891941
|
|
NM_000018.4(ACADVL):c.582A>G (p.Thr194=)
|
rs113891941
|
|
NM_000018.4(ACADVL):c.603C>T (p.Tyr201=)
|
|
|
NM_000018.4(ACADVL):c.609C>A (p.Pro203=)
|
rs2142975004
|
|
NM_000018.4(ACADVL):c.609C>T (p.Pro203=)
|
rs2142975004
|
|
NM_000018.4(ACADVL):c.612G>A (p.Lys204=)
|
rs149836890
|
|
NM_000018.4(ACADVL):c.613C>T (p.Leu205=)
|
|
|
NM_000018.4(ACADVL):c.62+10del
|
rs1251002707
|
|
NM_000018.4(ACADVL):c.62+11G>A
|
rs754789048
|
|
NM_000018.4(ACADVL):c.62+12_62+21del
|
rs2142959968
|
|
NM_000018.4(ACADVL):c.62+13C>T
|
|
|
NM_000018.4(ACADVL):c.62+16G>A
|
|
|
NM_000018.4(ACADVL):c.62+4TG[2]
|
|
|
NM_000018.4(ACADVL):c.62+4TG[3]
|
rs777656865
|
|
NM_000018.4(ACADVL):c.622+13T>C
|
|
|
NM_000018.4(ACADVL):c.622+14A>G
|
rs2071235916
|
|
NM_000018.4(ACADVL):c.622+14del
|
|
|
NM_000018.4(ACADVL):c.622+15G>A
|
|
|
NM_000018.4(ACADVL):c.622+19_622+20del
|
|
|
NM_000018.4(ACADVL):c.622+19del
|
|
|
NM_000018.4(ACADVL):c.622+20G>C
|
|
|
NM_000018.4(ACADVL):c.623-11C>T
|
|
|
NM_000018.4(ACADVL):c.623-14T>C
|
rs2142976404
|
|
NM_000018.4(ACADVL):c.623-20A>G
|
|
|
NM_000018.4(ACADVL):c.623-21A>G
|
|
|
NM_000018.4(ACADVL):c.623-7C>T
|
|
|
NM_000018.4(ACADVL):c.624G>A (p.Gly208=)
|
rs2142976497
|
|
NM_000018.4(ACADVL):c.63-10C>T
|
rs2142960638
|
|
NM_000018.4(ACADVL):c.63-16C>A
|
|
|
NM_000018.4(ACADVL):c.63-16C>G
|
|
|
NM_000018.4(ACADVL):c.63-16C>T
|
|
|
NM_000018.4(ACADVL):c.63-17A>T
|
rs1597516059
|
|
NM_000018.4(ACADVL):c.63-4A>G
|
rs2142960681
|
|
NM_000018.4(ACADVL):c.63-5C>T
|
|
|
NM_000018.4(ACADVL):c.63-7C>T
|
|
|
NM_000018.4(ACADVL):c.63-8C>T
|
rs2142960652
|
|
NM_000018.4(ACADVL):c.633G>A (p.Val211=)
|
|
|
NM_000018.4(ACADVL):c.645T>C (p.Cys215=)
|
|
|
NM_000018.4(ACADVL):c.660A>C (p.Ser220=)
|
rs2142976731
|
|
NM_000018.4(ACADVL):c.666G>A (p.Gly222=)
|
rs755458311
|
|
NM_000018.4(ACADVL):c.669A>G (p.Ser223=)
|
|
|
NM_000018.4(ACADVL):c.675A>G (p.Ala225=)
|
rs1367195566
|
|
NM_000018.4(ACADVL):c.675A>T (p.Ala225=)
|
|
|
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)
|
rs372114185
|
|
NM_000018.4(ACADVL):c.678C>T (p.Ala226=)
|
rs372114185
|
|
NM_000018.4(ACADVL):c.681C>T (p.Ser227=)
|
|
|
NM_000018.4(ACADVL):c.693T>C (p.Ser231=)
|
rs77763289
|
|
NM_000018.4(ACADVL):c.696T>C (p.Ala232=)
|
|
|
NM_000018.4(ACADVL):c.699G>A (p.Val233=)
|
rs1244500033
|
|
NM_000018.4(ACADVL):c.69G>A (p.Arg23=)
|
|
|
NM_000018.4(ACADVL):c.702C>G (p.Pro234=)
|
rs2142976946
|
|
NM_000018.4(ACADVL):c.708C>T (p.Pro236=)
|
rs2142976976
|
|
NM_000018.4(ACADVL):c.711T>C (p.Cys237=)
|
|
|
NM_000018.4(ACADVL):c.720C>T (p.Tyr240=)
|
|
|
NM_000018.4(ACADVL):c.726C>T (p.Thr242=)
|
rs972997485
|
|
NM_000018.4(ACADVL):c.732T>C (p.Asn244=)
|
rs1567564195
|
|
NM_000018.4(ACADVL):c.741G>A (p.Lys247=)
|
|
|
NM_000018.4(ACADVL):c.752+10C>T
|
rs200176128
|
|
NM_000018.4(ACADVL):c.752+12C>G
|
|
|
NM_000018.4(ACADVL):c.752+14C>T
|
|
|
NM_000018.4(ACADVL):c.752+18T>A
|
rs928947852
|
|
NM_000018.4(ACADVL):c.752+20T>A
|
|
|
NM_000018.4(ACADVL):c.752+9C>T
|
|
|
NM_000018.4(ACADVL):c.753-13C>T
|
|
|
NM_000018.4(ACADVL):c.753-15C>T
|
|
|
NM_000018.4(ACADVL):c.753-8T>C
|
|
|
NM_000018.4(ACADVL):c.753-9C>A
|
|
|
NM_000018.4(ACADVL):c.753-9C>G
|
rs1262931604
|
|
NM_000018.4(ACADVL):c.753-9C>T
|
rs1262931604
|
|
NM_000018.4(ACADVL):c.75G>T (p.Thr25=)
|
rs2142960838
|
|
NM_000018.4(ACADVL):c.765A>G (p.Leu255=)
|
|
|
NM_000018.4(ACADVL):c.777C>T (p.Phe259=)
|
|
|
NM_000018.4(ACADVL):c.780G>C (p.Thr260=)
|
rs140871321
|
|
NM_000018.4(ACADVL):c.780G>T (p.Thr260=)
|
rs140871321
|
|
NM_000018.4(ACADVL):c.783C>T (p.Val261=)
|
rs1309345559
|
|
NM_000018.4(ACADVL):c.816A>G (p.Thr272=)
|
|
|
NM_000018.4(ACADVL):c.81C>G (p.Leu27=)
|
|
|
NM_000018.4(ACADVL):c.834G>A (p.Lys278=)
|
|
|
NM_000018.4(ACADVL):c.843T>A (p.Ala281=)
|
|
|
NM_000018.4(ACADVL):c.843T>C (p.Ala281=)
|
|
|
NM_000018.4(ACADVL):c.849G>A (p.Val283=)
|
|
|
NM_000018.4(ACADVL):c.84G>A (p.Leu28=)
|
|
|
NM_000018.4(ACADVL):c.855G>A (p.Glu285=)
|
rs201509063
|
|
NM_000018.4(ACADVL):c.861C>G (p.Gly287=)
|
rs2142978212
|
|
NM_000018.4(ACADVL):c.861C>T (p.Gly287=)
|
rs2142978212
|
|
NM_000018.4(ACADVL):c.867G>A (p.Gly289=)
|
rs745557512
|
|
NM_000018.4(ACADVL):c.876C>G (p.Thr292=)
|
|
|
NM_000018.4(ACADVL):c.878+10T>C
|
|
|
NM_000018.4(ACADVL):c.878+11T>G
|
|
|
NM_000018.4(ACADVL):c.878+18G>A
|
|
|
NM_000018.4(ACADVL):c.878+18G>T
|
|
|
NM_000018.4(ACADVL):c.878+34G>A
|
|
|
NM_000018.4(ACADVL):c.879-10C>T
|
|
|
NM_000018.4(ACADVL):c.879-13T>C
|
|
|
NM_000018.4(ACADVL):c.879-15A>G
|
|
|
NM_000018.4(ACADVL):c.879-17A>G
|
|
|
NM_000018.4(ACADVL):c.879-18C>T
|
|
|
NM_000018.4(ACADVL):c.879-19C>T
|
rs754490495
|
|
NM_000018.4(ACADVL):c.879-20C>T
|
|
|
NM_000018.4(ACADVL):c.879-7G>C
|
rs2142979711
|
|
NM_000018.4(ACADVL):c.882G>C (p.Gly294=)
|
|
|
NM_000018.4(ACADVL):c.885C>A (p.Pro295=)
|
rs1567565243
|
|
NM_000018.4(ACADVL):c.891G>A (p.Glu297=)
|
|
|
NM_000018.4(ACADVL):c.906C>T (p.Ile302=)
|
|
|
NM_000018.4(ACADVL):c.909G>A (p.Lys303=)
|
rs2142979945
|
|
NM_000018.4(ACADVL):c.921A>C (p.Thr307=)
|
|
|
NM_000018.4(ACADVL):c.924A>G (p.Ala308=)
|
|
|
NM_000018.4(ACADVL):c.927G>A (p.Glu309=)
|
|
|
NM_000018.4(ACADVL):c.942A>C (p.Gly314=)
|
rs2142980069
|
|
NM_000018.4(ACADVL):c.948G>A (p.Arg316=)
|
|
|
NM_000018.4(ACADVL):c.96G>A (p.Arg32=)
|
rs1243371051
|
|
NM_000018.4(ACADVL):c.972T>C (p.Gly324=)
|
rs1555528483
|
|
NM_000018.4(ACADVL):c.981G>C (p.Gly327=)
|
rs527421619
|
|
NM_000018.4(ACADVL):c.99C>T (p.Pro33=)
|
|
|
NM_000018.4(ACADVL):c.9G>A (p.Ala3=)
|
|
|
NM_000018.4(ACADVL):c.9G>C (p.Ala3=)
|
|
|
NM_000019.4(ACAT1):c.1005+11A>C
|
|
|
NM_000019.4(ACAT1):c.1005+11A>T
|
|
|
NM_000019.4(ACAT1):c.1005+19G>A
|
rs1239413602
|
|
NM_000019.4(ACAT1):c.1005+19G>T
|
|
|
NM_000019.4(ACAT1):c.1005+20C>T
|
|
|
NM_000019.4(ACAT1):c.1005+20dup
|
|
|
NM_000019.4(ACAT1):c.1006-15T>C
|
|
|
NM_000019.4(ACAT1):c.1006-16T>C
|
|
|
NM_000019.4(ACAT1):c.1006-17C>A
|
|
|
NM_000019.4(ACAT1):c.1006-18T>A
|
|
|
NM_000019.4(ACAT1):c.1006-18T>C
|
|
|
NM_000019.4(ACAT1):c.1006-21C>A
|
|
|
NM_000019.4(ACAT1):c.1006-4T>G
|
|
|
NM_000019.4(ACAT1):c.1006-7A>T
|
|
|
NM_000019.4(ACAT1):c.1006-8A>C
|
|
|
NM_000019.4(ACAT1):c.1020G>A (p.Val340=)
|
rs2077705283
|
|
NM_000019.4(ACAT1):c.1023A>G (p.Gly341=)
|
|
|
NM_000019.4(ACAT1):c.1023A>T (p.Gly341=)
|
|
|
NM_000019.4(ACAT1):c.1024T>C (p.Leu342=)
|
|
|
NM_000019.4(ACAT1):c.1044A>C (p.Ala348=)
|
rs2134791187
|
|
NM_000019.4(ACAT1):c.1053A>G (p.Glu351=)
|
|
|
NM_000019.4(ACAT1):c.1059T>C (p.Asn353=)
|
rs1591374629
|
|
NM_000019.4(ACAT1):c.1077T>G (p.Val359=)
|
|
|
NM_000019.4(ACAT1):c.1081C>T (p.Leu361=)
|
|
|
NM_000019.4(ACAT1):c.1089C>T (p.Asn363=)
|
|
|
NM_000019.4(ACAT1):c.10C>T (p.Leu4=)
|
|
|
NM_000019.4(ACAT1):c.1116A>G (p.Gln372=)
|
|
|
NM_000019.4(ACAT1):c.1128C>A (p.Ile376=)
|
|
|
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=)
|
rs928429664
|
|
NM_000019.4(ACAT1):c.1131T>C (p.Asn377=)
|
rs751682437
|
|
NM_000019.4(ACAT1):c.1134A>G (p.Gly378=)
|
rs2134791835
|
|
NM_000019.4(ACAT1):c.1163+11A>G
|
|
|
NM_000019.4(ACAT1):c.1163+14A>G
|
|
|
NM_000019.4(ACAT1):c.1163+15_1163+17del
|
rs748465398
|
|
NM_000019.4(ACAT1):c.1163+16_1163+18del
|
|
|
NM_000019.4(ACAT1):c.1163+18C>T
|
|
|
NM_000019.4(ACAT1):c.1163+19T>G
|
|
|
NM_000019.4(ACAT1):c.1163+20A>C
|
|
|
NM_000019.4(ACAT1):c.1163+20A>G
|
|
|
NM_000019.4(ACAT1):c.1164-11C>T
|
|
|
NM_000019.4(ACAT1):c.1164-17T>C
|
|
|
NM_000019.4(ACAT1):c.1164-4T>C
|
|
|
NM_000019.4(ACAT1):c.1164-4T>G
|
|
|
NM_000019.4(ACAT1):c.1164-7A>C
|
|
|
NM_000019.4(ACAT1):c.1164-8_1164-4dup
|
|
|
NM_000019.4(ACAT1):c.1176C>G (p.Ala392=)
|
|
|
NM_000019.4(ACAT1):c.1179G>A (p.Arg393=)
|
|
|
NM_000019.4(ACAT1):c.1192T>C (p.Leu398=)
|
|
|
NM_000019.4(ACAT1):c.1197T>C (p.Thr399=)
|
|
|
NM_000019.4(ACAT1):c.120+17G>A
|
|
|
NM_000019.4(ACAT1):c.120+20C>G
|
|
|
NM_000019.4(ACAT1):c.120+20C>T
|
|
|
NM_000019.4(ACAT1):c.1203C>T (p.Ala401=)
|
|
|
NM_000019.4(ACAT1):c.1204T>C (p.Leu402=)
|
|
|
NM_000019.4(ACAT1):c.1206G>A (p.Leu402=)
|
|
|
NM_000019.4(ACAT1):c.121-12G>A
|
|
|
NM_000019.4(ACAT1):c.121-19C>T
|
|
|
NM_000019.4(ACAT1):c.121-8C>T
|
|
|
NM_000019.4(ACAT1):c.1215A>C (p.Gly405=)
|
|
|
NM_000019.4(ACAT1):c.1224T>C (p.Gly408=)
|
rs1218523313
|
|
NM_000019.4(ACAT1):c.1230C>T (p.Ala410=)
|
|
|
NM_000019.4(ACAT1):c.1233T>C (p.Ser411=)
|
rs2077740550
|
|
NM_000019.4(ACAT1):c.1239C>T (p.Cys413=)
|
rs2134798301
|
|
NM_000019.4(ACAT1):c.1245A>G (p.Gly415=)
|
|
|
NM_000019.4(ACAT1):c.1248A>G (p.Gly416=)
|
|
|
NM_000019.4(ACAT1):c.1260T>C (p.Ser420=)
|
|
|
NM_000019.4(ACAT1):c.126G>A (p.Val42=)
|
|
|
NM_000019.4(ACAT1):c.126G>T (p.Val42=)
|
rs2135334412
|
|
NM_000019.4(ACAT1):c.1272T>A (p.Ile424=)
|
|
|
NM_000019.4(ACAT1):c.1278G>A (p.Lys426=)
|
|
|
NM_000019.4(ACAT1):c.1279C>T (p.Leu427=)
|
rs201500937
|
|
NM_000019.4(ACAT1):c.15G>C (p.Ala5=)
|
rs886047594
|
|
NM_000019.4(ACAT1):c.15G>T (p.Ala5=)
|
|
|
NM_000019.4(ACAT1):c.174C>T (p.Ser58=)
|
rs147018814
|
|
NM_000019.4(ACAT1):c.177T>G (p.Leu59=)
|
rs2135334620
|
|
NM_000019.4(ACAT1):c.180C>G (p.Ser60=)
|
rs1246350270
|
|
NM_000019.4(ACAT1):c.189A>C (p.Pro63=)
|
|
|
NM_000019.4(ACAT1):c.18A>G (p.Ala6=)
|
|
|
NM_000019.4(ACAT1):c.192C>T (p.Ala64=)
|
rs2135334679
|
|
NM_000019.4(ACAT1):c.213A>C (p.Ala71=)
|
|
|
NM_000019.4(ACAT1):c.21T>G (p.Leu7=)
|
|
|
NM_000019.4(ACAT1):c.234G>A (p.Lys78=)
|
|
|
NM_000019.4(ACAT1):c.238+11A>G
|
|
|
NM_000019.4(ACAT1):c.238+13T>C
|
|
|
NM_000019.4(ACAT1):c.238+20T>C
|
|
|
NM_000019.4(ACAT1):c.238+20T>G
|
|
|
NM_000019.4(ACAT1):c.238+8G>T
|
rs2135334879
|
|
NM_000019.4(ACAT1):c.239-13T>G
|
|
|
NM_000019.4(ACAT1):c.239-17_239-16insC
|
|
|
NM_000019.4(ACAT1):c.239-6dup
|
rs2077417137
|
|
NM_000019.4(ACAT1):c.24G>T (p.Leu8=)
|
|
|
NM_000019.4(ACAT1):c.264A>G (p.Glu88=)
|
rs1406647087
|
|
NM_000019.4(ACAT1):c.267A>C (p.Ala89=)
|
rs1380608828
|
|
NM_000019.4(ACAT1):c.27C>T (p.Arg9=)
|
rs1437592865
|
|
NM_000019.4(ACAT1):c.291A>C (p.Gly97=)
|
rs746216662
|
|
NM_000019.4(ACAT1):c.291A>G (p.Gly97=)
|
|
|
NM_000019.4(ACAT1):c.303A>G (p.Gln101=)
|
|
|
NM_000019.4(ACAT1):c.312A>G (p.Thr104=)
|
rs2135336378
|
|
NM_000019.4(ACAT1):c.315G>A (p.Arg105=)
|
|
|
NM_000019.4(ACAT1):c.318G>A (p.Gln106=)
|
|
|
NM_000019.4(ACAT1):c.321A>T (p.Ala107=)
|
|
|
NM_000019.4(ACAT1):c.330T>C (p.Gly110=)
|
rs2135336464
|
|
NM_000019.4(ACAT1):c.334+16T>C
|
|
|
NM_000019.4(ACAT1):c.334+18_334+19del
|
|
|
NM_000019.4(ACAT1):c.334+19T>G
|
|
|
NM_000019.4(ACAT1):c.334+8G>A
|
rs1336705723
|
|
NM_000019.4(ACAT1):c.335-12T>C
|
|
|
NM_000019.4(ACAT1):c.335-16C>T
|
|
|
NM_000019.4(ACAT1):c.335-19T>C
|
|
|
NM_000019.4(ACAT1):c.335-20G>A
|
|
|
NM_000019.4(ACAT1):c.335-20G>C
|
|
|
NM_000019.4(ACAT1):c.335-4T>G
|
|
|
NM_000019.4(ACAT1):c.33C>T (p.Gly11=)
|
|
|
NM_000019.4(ACAT1):c.360C>T (p.Thr120=)
|
rs2135341517
|
|
NM_000019.4(ACAT1):c.36C>G (p.Ala12=)
|
rs1333520451
|
|
NM_000019.4(ACAT1):c.36C>T (p.Ala12=)
|
rs1333520451
|
|
NM_000019.4(ACAT1):c.375T>C (p.Val125=)
|
rs767382364
|
|
NM_000019.4(ACAT1):c.384A>C (p.Ser128=)
|
|
|
NM_000019.4(ACAT1):c.399C>T (p.Ile133=)
|
rs2135341722
|
|
NM_000019.4(ACAT1):c.39C>A (p.Arg13=)
|
|
|
NM_000019.4(ACAT1):c.408C>A (p.Ala136=)
|
|
|
NM_000019.4(ACAT1):c.42C>T (p.Ser14=)
|
rs1436280151
|
|
NM_000019.4(ACAT1):c.435+11C>T
|
|
|
NM_000019.4(ACAT1):c.435+12C>T
|
|
|
NM_000019.4(ACAT1):c.435+13G>A
|
|
|
NM_000019.4(ACAT1):c.435+19C>T
|
|
|
NM_000019.4(ACAT1):c.435+20C>T
|
|
|
NM_000019.4(ACAT1):c.436-12G>A
|
|
|
NM_000019.4(ACAT1):c.436-13T>C
|
|
|
NM_000019.4(ACAT1):c.436-14G>A
|
|
|
NM_000019.4(ACAT1):c.436-4G>C
|
rs3741050
|
|
NM_000019.4(ACAT1):c.436-8C>T
|
rs2135355544
|
|
NM_000019.4(ACAT1):c.447G>A (p.Val149=)
|
|
|
NM_000019.4(ACAT1):c.45C>T (p.Arg15=)
|
rs2135283693
|
|
NM_000019.4(ACAT1):c.474T>C (p.Asn158=)
|
|
|
NM_000019.4(ACAT1):c.477T>C (p.Val159=)
|
|
|
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)
|
rs1591367485
|
|
NM_000019.4(ACAT1):c.492C>T (p.Asn164=)
|
rs2135356062
|
|
NM_000019.4(ACAT1):c.507A>T (p.Pro169=)
|
rs201456540
|
|
NM_000019.4(ACAT1):c.510T>C (p.Tyr170=)
|
|
|
NM_000019.4(ACAT1):c.513T>C (p.Gly171=)
|
rs1388288534
|
|
NM_000019.4(ACAT1):c.51C>A (p.Pro17=)
|
|
|
NM_000019.4(ACAT1):c.51C>G (p.Pro17=)
|
rs765733417
|
|
NM_000019.4(ACAT1):c.531T>C (p.Asp177=)
|
|
|
NM_000019.4(ACAT1):c.537T>C (p.Ile179=)
|
|
|
NM_000019.4(ACAT1):c.549G>A (p.Gly183=)
|
|
|
NM_000019.4(ACAT1):c.550C>T (p.Leu184=)
|
rs2135356370
|
|
NM_000019.4(ACAT1):c.579+17G>T
|
|
|
NM_000019.4(ACAT1):c.579+7G>A
|
|
|
NM_000019.4(ACAT1):c.57C>A (p.Leu19=)
|
rs540416798
|
|
NM_000019.4(ACAT1):c.57C>T (p.Leu19=)
|
rs540416798
|
|
NM_000019.4(ACAT1):c.580-14C>A
|
|
|
NM_000019.4(ACAT1):c.580-5dup
|
rs2134760866
|
|
NM_000019.4(ACAT1):c.580-7T>C
|
rs565210496
|
|
NM_000019.4(ACAT1):c.580-8T>C
|
|
|
NM_000019.4(ACAT1):c.588T>C (p.Cys196=)
|
|
|
NM_000019.4(ACAT1):c.603A>G (p.Ala201=)
|
rs1591368730
|
|
NM_000019.4(ACAT1):c.609G>A (p.Lys203=)
|
|
|
NM_000019.4(ACAT1):c.615T>C (p.Asn205=)
|
|
|
NM_000019.4(ACAT1):c.622C>A (p.Arg208=)
|
rs532190594
|
|
NM_000019.4(ACAT1):c.630A>G (p.Glu210=)
|
|
|
NM_000019.4(ACAT1):c.633G>A (p.Gln211=)
|
rs2134761170
|
|
NM_000019.4(ACAT1):c.642T>C (p.Tyr214=)
|
rs761282960
|
|
NM_000019.4(ACAT1):c.657T>C (p.Tyr219=)
|
|
|
NM_000019.4(ACAT1):c.666T>C (p.Ser222=)
|
rs2134761387
|
|
NM_000019.4(ACAT1):c.681A>G (p.Glu227=)
|
rs2134761453
|
|
NM_000019.4(ACAT1):c.684T>C (p.Ala228=)
|
rs2134761476
|
|
NM_000019.4(ACAT1):c.72+10G>A
|
|
|
NM_000019.4(ACAT1):c.72+10G>T
|
rs1324987267
|
|
NM_000019.4(ACAT1):c.72+15T>A
|
|
|
NM_000019.4(ACAT1):c.72+17C>T
|
|
|
NM_000019.4(ACAT1):c.72+19C>T
|
|
|
NM_000019.4(ACAT1):c.72+8G>C
|
|
|
NM_000019.4(ACAT1):c.73-10T>C
|
|
|
NM_000019.4(ACAT1):c.73-10T>G
|
|
|
NM_000019.4(ACAT1):c.73-13A>G
|
|
|
NM_000019.4(ACAT1):c.73-16_73-13del
|
rs764584922
|
|
NM_000019.4(ACAT1):c.73-17_73-12del
|
|
|
NM_000019.4(ACAT1):c.73-18T>C
|
|
|
NM_000019.4(ACAT1):c.73-20_73-18del
|
rs761134266
|
|
NM_000019.4(ACAT1):c.73-9A>G
|
|
|
NM_000019.4(ACAT1):c.730+8T>G
|
rs1203808396
|
|
NM_000019.4(ACAT1):c.731-10_731-8del
|
|
|
NM_000019.4(ACAT1):c.731-20T>C
|
|
|
NM_000019.4(ACAT1):c.731-20T>G
|
|
|
NM_000019.4(ACAT1):c.731-6T>C
|
rs574669264
|
|
NM_000019.4(ACAT1):c.732T>A (p.Gly244=)
|
rs2134768518
|
|
NM_000019.4(ACAT1):c.738A>G (p.Pro246=)
|
rs2134768546
|
|
NM_000019.4(ACAT1):c.747G>C (p.Val249=)
|
|
|
NM_000019.4(ACAT1):c.774T>G (p.Arg258=)
|
rs778592070
|
|
NM_000019.4(ACAT1):c.777T>C (p.Val259=)
|
rs2134768842
|
|
NM_000019.4(ACAT1):c.807A>G (p.Thr269=)
|
rs2134768930
|
|
NM_000019.4(ACAT1):c.810T>C (p.Val270=)
|
rs768923639
|
|
NM_000019.4(ACAT1):c.826+10A>G
|
|
|
NM_000019.4(ACAT1):c.826+15A>G
|
|
|
NM_000019.4(ACAT1):c.826+16T>C
|
|
|
NM_000019.4(ACAT1):c.826+19A>C
|
|
|
NM_000019.4(ACAT1):c.826+20G>A
|
|
|
NM_000019.4(ACAT1):c.826+7G>A
|
|
|
NM_000019.4(ACAT1):c.827-12T>G
|
rs2134772377
|
|
NM_000019.4(ACAT1):c.827-16T>A
|
|
|
NM_000019.4(ACAT1):c.827-16T>C
|
|
|
NM_000019.4(ACAT1):c.827-16_827-15del
|
|
|
NM_000019.4(ACAT1):c.827-17C>G
|
|
|
NM_000019.4(ACAT1):c.827-18C>A
|
|
|
NM_000019.4(ACAT1):c.831A>G (p.Thr277=)
|
rs2077608173
|
|
NM_000019.4(ACAT1):c.846T>C (p.Asn282=)
|
rs2134772561
|
|
NM_000019.4(ACAT1):c.852T>C (p.Ser284=)
|
|
|
NM_000019.4(ACAT1):c.855A>C (p.Thr285=)
|
|
|
NM_000019.4(ACAT1):c.855A>G (p.Thr285=)
|
|
|
NM_000019.4(ACAT1):c.861T>C (p.Asn287=)
|
|
|
NM_000019.4(ACAT1):c.867A>T (p.Gly289=)
|
|
|
NM_000019.4(ACAT1):c.876T>C (p.Ala292=)
|
|
|
NM_000019.4(ACAT1):c.879G>A (p.Leu293=)
|
|
|
NM_000019.4(ACAT1):c.903G>T (p.Ala301=)
|
rs75811190
|
|
NM_000019.4(ACAT1):c.912C>A (p.Leu304=)
|
|
|
NM_000019.4(ACAT1):c.915T>C (p.Asn305=)
|
rs2134773010
|
|
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
|
rs2077610591
|
|
NM_000019.4(ACAT1):c.930A>G (p.Ala310=)
|
|
|
NM_000019.4(ACAT1):c.936A>T (p.Ile312=)
|
|
|
NM_000019.4(ACAT1):c.93G>A (p.Arg31=)
|
|
|
NM_000019.4(ACAT1):c.940+12C>A
|
|
|
NM_000019.4(ACAT1):c.940+12C>G
|
|
|
NM_000019.4(ACAT1):c.940+13G>A
|
|
|
NM_000019.4(ACAT1):c.940+14_940+18del
|
|
|
NM_000019.4(ACAT1):c.940+15G>A
|
|
|
NM_000019.4(ACAT1):c.940+15_940+25del
|
|
|
NM_000019.4(ACAT1):c.940+16_940+20del
|
rs2134773385
|
|
NM_000019.4(ACAT1):c.940+20C>G
|
|
|
NM_000019.4(ACAT1):c.940+7C>G
|
|
|
NM_000019.4(ACAT1):c.941-13T>C
|
rs760991373
|
|
NM_000019.4(ACAT1):c.941-14_941-13del
|
|
|
NM_000019.4(ACAT1):c.941-15C>A
|
|
|
NM_000019.4(ACAT1):c.941-15C>G
|
|
|
NM_000019.4(ACAT1):c.941-15C>T
|
rs759374737
|
|
NM_000019.4(ACAT1):c.941-16C>A
|
|
|
NM_000019.4(ACAT1):c.941-16C>G
|
rs770980645
|
|
NM_000019.4(ACAT1):c.941-16C>T
|
|
|
NM_000019.4(ACAT1):c.941-16_941-15insA
|
|
|
NM_000019.4(ACAT1):c.941-17C>A
|
|
|
NM_000019.4(ACAT1):c.941-17C>G
|
|
|
NM_000019.4(ACAT1):c.941-18C>G
|
|
|
NM_000019.4(ACAT1):c.941-18C>T
|
|
|
NM_000019.4(ACAT1):c.941-18_941-17insG
|
|
|
NM_000019.4(ACAT1):c.941-19C>T
|
|
|
NM_000019.4(ACAT1):c.941-20C>A
|
|
|
NM_000019.4(ACAT1):c.960A>G (p.Val320=)
|
|
|
NM_000019.4(ACAT1):c.972T>C (p.Asp324=)
|
|
|
NM_000019.4(ACAT1):c.984T>A (p.Ala328=)
|
rs745826234
|
|
NM_000019.4(ACAT1):c.987T>C (p.Pro329=)
|
|
|
NM_000019.4(ACAT1):c.996T>C (p.Ala332=)
|
rs2134780546
|
|
NM_000019.4(ACAT1):c.99T>C (p.Tyr33=)
|
|
|
NM_000019.4(ACAT1):c.9G>A (p.Val3=)
|
|
|
NM_000026.4(ADSL):c.1005C>G (p.Ala335=)
|
|
|
NM_000026.4(ADSL):c.1011-17G>A
|
|
|
NM_000026.4(ADSL):c.1026C>T (p.Ala342=)
|
rs1280553241
|
|
NM_000026.4(ADSL):c.1029G>A (p.Glu343=)
|
|
|
NM_000026.4(ADSL):c.1062G>A (p.Thr354=)
|
|
|
NM_000026.4(ADSL):c.1080A>G (p.Glu360=)
|
|
|
NM_000026.4(ADSL):c.1092G>A (p.Val364=)
|
rs1303477707
|
|
NM_000026.4(ADSL):c.1101+10C>T
|
rs1274084136
|
|
NM_000026.4(ADSL):c.1102-12C>G
|
|
|
NM_000026.4(ADSL):c.1102-14A>G
|
|
|
NM_000026.4(ADSL):c.1102-16G>T
|
rs200428249
|
|
NM_000026.4(ADSL):c.1102-6C>G
|
rs758666194
|
|
NM_000026.4(ADSL):c.1102-7C>T
|
rs1001524766
|
|
NM_000026.4(ADSL):c.1122G>T (p.Arg374=)
|
rs2146671725
|
|
NM_000026.4(ADSL):c.1128G>A (p.Glu376=)
|
rs796052247
|
|
NM_000026.4(ADSL):c.1152C>T (p.Asn384=)
|
|
|
NM_000026.4(ADSL):c.1191+10C>G
|
rs974462495
|
|
NM_000026.4(ADSL):c.1191+11C>A
|
rs1057523739
|
|
NM_000026.4(ADSL):c.1191+12dup
|
rs1383604211
|
|
NM_000026.4(ADSL):c.1191+17G>A
|
rs1160304907
|
|
NM_000026.4(ADSL):c.1192-11T>C
|
|
|
NM_000026.4(ADSL):c.1192-12C>T
|
|
|
NM_000026.4(ADSL):c.1192-20A>C
|
|
|
NM_000026.4(ADSL):c.1192-20A>G
|
|
|
NM_000026.4(ADSL):c.1266C>T (p.Asp422=)
|
|
|
NM_000026.4(ADSL):c.1269C>A (p.Leu423=)
|
rs2146673771
|
|
NM_000026.4(ADSL):c.1314C>G (p.Ser438=)
|
rs2146674013
|
|
NM_000026.4(ADSL):c.1317G>A (p.Gln439=)
|
|
|
NM_000026.4(ADSL):c.1318T>C (p.Leu440=)
|
rs2044946403
|
|
NM_000026.4(ADSL):c.1338T>G (p.Pro446=)
|
|
|
NM_000026.4(ADSL):c.1359C>T (p.Ala453=)
|
rs1601598300
|
|
NM_000026.4(ADSL):c.1368+14A>C
|
|
|
NM_000026.4(ADSL):c.1368+18C>T
|
|
|
NM_000026.4(ADSL):c.1368+8del
|
rs758319423
|
|
NM_000026.4(ADSL):c.1369-19A>G
|
|
|
NM_000026.4(ADSL):c.1369-7C>G
|
rs780296394
|
|
NM_000026.4(ADSL):c.136C>T (p.Leu46=)
|
|
|
NM_000026.4(ADSL):c.1380C>T (p.Phe460=)
|
rs2146678362
|
|
NM_000026.4(ADSL):c.1381T>C (p.Leu461=)
|
|
|
NM_000026.4(ADSL):c.1413A>G (p.Pro471=)
|
rs796674225
|
|
NM_000026.4(ADSL):c.1452G>C (p.Leu484=)
|
|
|
NM_000026.4(ADSL):c.153+10C>A
|
rs751038604
|
|
NM_000026.4(ADSL):c.153+10C>G
|
|
|
NM_000026.4(ADSL):c.153+12C>T
|
rs780869214
|
|
NM_000026.4(ADSL):c.153+16C>G
|
|
|
NM_000026.4(ADSL):c.153+18G>A
|
|
|
NM_000026.4(ADSL):c.153+19A>G
|
rs2146613300
|
|
NM_000026.4(ADSL):c.153+7G>C
|
|
|
NM_000026.4(ADSL):c.154-12C>T
|
|
|
NM_000026.4(ADSL):c.154-7del
|
rs1452778583
|
|
NM_000026.4(ADSL):c.15C>T (p.Gly5=)
|
rs751781160
|
|
NM_000026.4(ADSL):c.225G>A (p.Lys75=)
|
|
|
NM_000026.4(ADSL):c.282A>G (p.Thr94=)
|
|
|
NM_000026.4(ADSL):c.357+10T>G
|
rs2146623665
|
|
NM_000026.4(ADSL):c.357+15_357+22dup
|
|
|
NM_000026.4(ADSL):c.357+7G>T
|
rs199993991
|
|
NM_000026.4(ADSL):c.393T>C (p.Leu131=)
|
|
|
NM_000026.4(ADSL):c.39C>T (p.Tyr13=)
|
|
|
NM_000026.4(ADSL):c.402+12G>C
|
|
|
NM_000026.4(ADSL):c.402+18G>A
|
rs753085563
|
|
NM_000026.4(ADSL):c.403-16A>G
|
|
|
NM_000026.4(ADSL):c.403-21_403-6del
|
|
|
NM_000026.4(ADSL):c.403-5T>C
|
|
|
NM_000026.4(ADSL):c.403-7C>A
|
rs1601565699
|
|
NM_000026.4(ADSL):c.403-7C>T
|
rs1601565699
|
|
NM_000026.4(ADSL):c.403-7del
|
|
|
NM_000026.4(ADSL):c.414G>A (p.Val138=)
|
|
|
NM_000026.4(ADSL):c.414G>C (p.Val138=)
|
|
|
NM_000026.4(ADSL):c.435T>C (p.Phe145=)
|
rs2146638742
|
|
NM_000026.4(ADSL):c.462A>G (p.Thr154=)
|
rs963510054
|
|
NM_000026.4(ADSL):c.480C>T (p.Phe160=)
|
|
|
NM_000026.4(ADSL):c.482+16A>C
|
rs921958536
|
|
NM_000026.4(ADSL):c.482+16A>T
|
|
|
NM_000026.4(ADSL):c.483-13T>C
|
|
|
NM_000026.4(ADSL):c.483-14C>T
|
|
|
NM_000026.4(ADSL):c.483-19G>A
|
|
|
NM_000026.4(ADSL):c.555C>T (p.Asn185=)
|
|
|
NM_000026.4(ADSL):c.576C>A (p.Asp192Glu)
|
|
|
NM_000026.4(ADSL):c.587G>T (p.Arg196Leu)
|
|
|
NM_000026.4(ADSL):c.60C>T (p.Arg20=)
|
|
|
NM_000026.4(ADSL):c.621T>C (p.Ser207=)
|
|
|
NM_000026.4(ADSL):c.633C>G (p.Leu211=)
|
|
|
NM_000026.4(ADSL):c.655-14C>A
|
|
|
NM_000026.4(ADSL):c.655-16G>C
|
|
|
NM_000026.4(ADSL):c.655-9C>G
|
rs1334564416
|
|
NM_000026.4(ADSL):c.684A>G (p.Glu228=)
|
rs2146654775
|
|
NM_000026.4(ADSL):c.701+16T>A
|
|
|
NM_000026.4(ADSL):c.701+7A>C
|
|
|
NM_000026.4(ADSL):c.702-15T>C
|
rs2146658569
|
|
NM_000026.4(ADSL):c.702-5C>G
|
rs751224448
|
|
NM_000026.4(ADSL):c.702-7T>A
|
rs201509960
|
|
NM_000026.4(ADSL):c.708C>T (p.Phe236=)
|
rs1210367027
|
|
NM_000026.4(ADSL):c.72G>A (p.Pro24=)
|
rs1279175740
|
|
NM_000026.4(ADSL):c.780A>C (p.Ala260=)
|
|
|
NM_000026.4(ADSL):c.792+15C>T
|
|
|
NM_000026.4(ADSL):c.792+17T>C
|
|
|
NM_000026.4(ADSL):c.793-11A>G
|
|
|
NM_000026.4(ADSL):c.793-13C>T
|
|
|
NM_000026.4(ADSL):c.793-19A>C
|
|
|
NM_000026.4(ADSL):c.816G>A (p.Leu272=)
|
|
|
NM_000026.4(ADSL):c.831G>A (p.Glu277=)
|
|
|
NM_000026.4(ADSL):c.837G>A (p.Glu279=)
|
|
|
NM_000026.4(ADSL):c.843C>T (p.Pro281=)
|
rs1555908183
|
|
NM_000026.4(ADSL):c.862+14A>G
|
|
|
NM_000026.4(ADSL):c.862+9T>C
|
|
|
NM_000026.4(ADSL):c.863-11T>C
|
rs375532126
|
|
NM_000026.4(ADSL):c.863-12T>C
|
|
|
NM_000026.4(ADSL):c.863-18C>T
|
rs2146662900
|
|
NM_000026.4(ADSL):c.863-20T>G
|
rs760407114
|
|
NM_000026.4(ADSL):c.885G>A (p.Lys295=)
|
|
|
NM_000026.4(ADSL):c.954G>A (p.Pro318=)
|
|
|
NM_000026.4(ADSL):c.990A>G (p.Thr330=)
|
|
|
NM_000026.4(ADSL):c.999T>C (p.Asp333=)
|
rs2146663670
|
|
NM_000026.4(ADSL):c.9T>C (p.Ala3=)
|
rs758676257
|
|
NM_000045.4(ARG1):c.111T>C (p.Leu37=)
|
|
|
NM_000045.4(ARG1):c.130+10_130+13dup
|
rs2114519466
|
|
NM_000045.4(ARG1):c.130+11A>G
|
rs2114519480
|
|
NM_000045.4(ARG1):c.130+8_130+9del
|
|
|
NM_000045.4(ARG1):c.131-14C>T
|
|
|
NM_000045.4(ARG1):c.131-19C>G
|
|
|
NM_000045.4(ARG1):c.131-4T>A
|
|
|
NM_000045.4(ARG1):c.131-9T>A
|
|
|
NM_000045.4(ARG1):c.131-9T>C
|
|
|
NM_000045.4(ARG1):c.141G>A (p.Val47=)
|
|
|
NM_000045.4(ARG1):c.144G>A (p.Lys48=)
|
|
|
NM_000045.4(ARG1):c.157C>T (p.Leu53=)
|
|
|
NM_000045.4(ARG1):c.159G>A (p.Leu53=)
|
|
|
NM_000045.4(ARG1):c.159G>T (p.Leu53=)
|
|
|
NM_000045.4(ARG1):c.162C>T (p.Pro54=)
|
|
|
NM_000045.4(ARG1):c.168T>A (p.Ala56=)
|
|
|
NM_000045.4(ARG1):c.171C>T (p.Asp57=)
|
|
|
NM_000045.4(ARG1):c.183C>T (p.Asp61=)
|
rs2114530488
|
|
NM_000045.4(ARG1):c.189C>G (p.Pro63=)
|
rs2114530548
|
|
NM_000045.4(ARG1):c.198T>C (p.Ile66=)
|
rs2114530584
|
|
NM_000045.4(ARG1):c.231C>T (p.Ser77=)
|
|
|
NM_000045.4(ARG1):c.243T>C (p.Ala81=)
|
rs1773789074
|
|
NM_000045.4(ARG1):c.252G>A (p.Val84=)
|
|
|
NM_000045.4(ARG1):c.255A>G (p.Ala85=)
|
rs2114530857
|
|
NM_000045.4(ARG1):c.261C>A (p.Val87=)
|
|
|
NM_000045.4(ARG1):c.264G>A (p.Lys88=)
|
|
|
NM_000045.4(ARG1):c.282C>T (p.Ser94=)
|
|
|
NM_000045.4(ARG1):c.283C>T (p.Leu95=)
|
rs2114531019
|
|
NM_000045.4(ARG1):c.291G>A (p.Leu97=)
|
rs2114531053
|
|
NM_000045.4(ARG1):c.297A>C (p.Gly99=)
|
rs2114531110
|
|
NM_000045.4(ARG1):c.305+11A>G
|
|
|
NM_000045.4(ARG1):c.305+16T>C
|
|
|
NM_000045.4(ARG1):c.306-10_306-9delinsCT
|
rs2114539119
|
|
NM_000045.4(ARG1):c.306-11T>C
|
|
|
NM_000045.4(ARG1):c.306-12T>C
|
|
|
NM_000045.4(ARG1):c.306-15T>C
|
|
|
NM_000045.4(ARG1):c.306-7C>T
|
|
|
NM_000045.4(ARG1):c.306-9C>T
|
|
|
NM_000045.4(ARG1):c.30T>C (p.Ile10=)
|
|
|
NM_000045.4(ARG1):c.312A>T (p.Ala104=)
|
rs995938048
|
|
NM_000045.4(ARG1):c.318A>G (p.Gly106=)
|
|
|
NM_000045.4(ARG1):c.321C>T (p.Ser107=)
|
|
|
NM_000045.4(ARG1):c.330C>A (p.Gly110=)
|
|
|
NM_000045.4(ARG1):c.330C>T (p.Gly110=)
|
rs1296548302
|
|
NM_000045.4(ARG1):c.336C>G (p.Ala112=)
|
|
|
NM_000045.4(ARG1):c.336C>T (p.Ala112=)
|
rs1585419820
|
|
NM_000045.4(ARG1):c.357A>C (p.Gly119=)
|
|
|
NM_000045.4(ARG1):c.363C>T (p.Ile121=)
|
rs1585419999
|
|
NM_000045.4(ARG1):c.375T>G (p.Ala125=)
|
|
|
NM_000045.4(ARG1):c.378C>T (p.His126=)
|
rs2114539679
|
|
NM_000045.4(ARG1):c.381T>C (p.Thr127=)
|
rs2114539712
|
|
NM_000045.4(ARG1):c.384T>C (p.Asp128=)
|
rs1216971255
|
|
NM_000045.4(ARG1):c.390C>T (p.Asn130=)
|
rs774535167
|
|
NM_000045.4(ARG1):c.397C>T (p.Leu133=)
|
rs769778089
|
|
NM_000045.4(ARG1):c.399G>A (p.Leu133=)
|
|
|
NM_000045.4(ARG1):c.420G>A (p.Leu140=)
|
|
|
NM_000045.4(ARG1):c.423T>C (p.His141=)
|
rs2114539979
|
|
NM_000045.4(ARG1):c.429A>G (p.Gln143=)
|
|
|
NM_000045.4(ARG1):c.42T>G (p.Pro14=)
|
|
|
NM_000045.4(ARG1):c.447G>C (p.Leu149=)
|
|
|
NM_000045.4(ARG1):c.454C>T (p.Leu152=)
|
rs1562359129
|
|
NM_000045.4(ARG1):c.462A>G (p.Gly154=)
|
|
|
NM_000045.4(ARG1):c.465+9C>T
|
|
|
NM_000045.4(ARG1):c.466-10G>A
|
rs1244186113
|
|
NM_000045.4(ARG1):c.466-13A>G
|
rs1448074178
|
|
NM_000045.4(ARG1):c.466-13A>T
|
|
|
NM_000045.4(ARG1):c.477G>A (p.Val159=)
|
rs2114545447
|
|
NM_000045.4(ARG1):c.48A>C (p.Ser16=)
|
rs1585391263
|
|
NM_000045.4(ARG1):c.513C>T (p.Ala171=)
|
|
|
NM_000045.4(ARG1):c.516G>A (p.Lys172=)
|
|
|
NM_000045.4(ARG1):c.519T>C (p.Asp173=)
|
|
|
NM_000045.4(ARG1):c.531T>C (p.Ile177=)
|
rs2114545822
|
|
NM_000045.4(ARG1):c.534C>T (p.Gly178=)
|
rs2114545840
|
|
NM_000045.4(ARG1):c.549C>T (p.Asp183=)
|
rs1773993991
|
|
NM_000045.4(ARG1):c.54A>G (p.Gly18=)
|
|
|
NM_000045.4(ARG1):c.560+15T>C
|
|
|
NM_000045.4(ARG1):c.560+19G>A
|
|
|
NM_000045.4(ARG1):c.561-12TC[4]
|
|
|
NM_000045.4(ARG1):c.561-14T>C
|
rs1268205686
|
|
NM_000045.4(ARG1):c.561-20T>C
|
|
|
NM_000045.4(ARG1):c.561-6T>C
|
|
|
NM_000045.4(ARG1):c.561-7T>A
|
rs2114547549
|
|
NM_000045.4(ARG1):c.561-8T>C
|
rs2114547535
|
|
NM_000045.4(ARG1):c.561-9C>A
|
rs1261380741
|
|
NM_000045.4(ARG1):c.561-9C>G
|
rs1261380741
|
|
NM_000045.4(ARG1):c.561-9_561-8del
|
rs756783454
|
|
NM_000045.4(ARG1):c.568T>C (p.Leu190=)
|
|
|
NM_000045.4(ARG1):c.57+12A>G
|
|
|
NM_000045.4(ARG1):c.57+12A>T
|
|
|
NM_000045.4(ARG1):c.57+18dup
|
|
|
NM_000045.4(ARG1):c.57+20T>C
|
|
|
NM_000045.4(ARG1):c.57+7A>G
|
|
|
NM_000045.4(ARG1):c.58-13_58-11del
|
rs2114518963
|
|
NM_000045.4(ARG1):c.58-16T>C
|
|
|
NM_000045.4(ARG1):c.58-17A>G
|
rs762210089
|
|
NM_000045.4(ARG1):c.58-17A>T
|
rs762210089
|
|
NM_000045.4(ARG1):c.582C>T (p.Gly194=)
|
|
|
NM_000045.4(ARG1):c.591C>T (p.Tyr197=)
|
rs2114547822
|
|
NM_000045.4(ARG1):c.603T>G (p.Thr201=)
|
rs767964970
|
|
NM_000045.4(ARG1):c.627C>A (p.Gly209=)
|
rs2114548020
|
|
NM_000045.4(ARG1):c.63A>G (p.Arg21=)
|
rs2114519068
|
|
NM_000045.4(ARG1):c.645A>T (p.Thr215=)
|
rs2114548129
|
|
NM_000045.4(ARG1):c.648C>T (p.Leu216=)
|
|
|
NM_000045.4(ARG1):c.657A>G (p.Leu219=)
|
|
|
NM_000045.4(ARG1):c.663A>G (p.Gly221=)
|
rs1452547824
|
|
NM_000045.4(ARG1):c.665+11_665+27del
|
|
|
NM_000045.4(ARG1):c.665+13TG[3]
|
|
|
NM_000045.4(ARG1):c.665+18G>A
|
|
|
NM_000045.4(ARG1):c.665+19T>C
|
|
|
NM_000045.4(ARG1):c.665+20G>A
|
|
|
NM_000045.4(ARG1):c.665+23_665+36del
|
|
|
NM_000045.4(ARG1):c.665+7T>C
|
|
|
NM_000045.4(ARG1):c.665+7T>G
|
|
|
NM_000045.4(ARG1):c.665+9C>A
|
rs1774025291
|
|
NM_000045.4(ARG1):c.666-13C>T
|
|
|
NM_000045.4(ARG1):c.666-19C>T
|
rs774722903
|
|
NM_000045.4(ARG1):c.666-5A>G
|
|
|
NM_000045.4(ARG1):c.666-6T>C
|
rs2114549070
|
|
NM_000045.4(ARG1):c.673A>C (p.Arg225=)
|
|
|
NM_000045.4(ARG1):c.687A>C (p.Leu229=)
|
|
|
NM_000045.4(ARG1):c.687A>G (p.Leu229=)
|
rs780770809
|
|
NM_000045.4(ARG1):c.69G>A (p.Gly23=)
|
|
|
NM_000045.4(ARG1):c.745G>C (p.Val249Leu)
|
rs182650447
|
|
NM_000045.4(ARG1):c.75A>C (p.Glu25Asp)
|
|
|
NM_000045.4(ARG1):c.762C>T (p.Tyr254=)
|
rs777639743
|
|
NM_000045.4(ARG1):c.777C>T (p.Tyr259=)
|
rs775687110
|
|
NM_000045.4(ARG1):c.780C>T (p.Ile260=)
|
rs2114549662
|
|
NM_000045.4(ARG1):c.789A>G (p.Glu263=)
|
|
|
NM_000045.4(ARG1):c.792C>T (p.Ile264=)
|
rs1279130152
|
|
NM_000045.4(ARG1):c.795C>T (p.Tyr265=)
|
|
|
NM_000045.4(ARG1):c.802+12T>G
|
|
|
NM_000045.4(ARG1):c.802+15_802+19del
|
|
|
NM_000045.4(ARG1):c.802+9C>A
|
|
|
NM_000045.4(ARG1):c.802+9C>G
|
rs1317661902
|
|
NM_000045.4(ARG1):c.803-10G>A
|
rs2114550847
|
|
NM_000045.4(ARG1):c.803-17A>G
|
|
|
NM_000045.4(ARG1):c.803-20A>G
|
|
|
NM_000045.4(ARG1):c.803-9T>A
|
rs1296257255
|
|
NM_000045.4(ARG1):c.803-9T>C
|
rs1296257255
|
|
NM_000045.4(ARG1):c.804G>C (p.Gly268=)
|
rs747275658
|
|
NM_000045.4(ARG1):c.817T>C (p.Leu273=)
|
|
|
NM_000045.4(ARG1):c.81C>T (p.Gly27=)
|
rs2114519204
|
|
NM_000045.4(ARG1):c.825A>C (p.Ile275=)
|
rs781780752
|
|
NM_000045.4(ARG1):c.837C>T (p.Asn279=)
|
|
|
NM_000045.4(ARG1):c.840A>C (p.Pro280=)
|
rs1585429947
|
|
NM_000045.4(ARG1):c.849G>A (p.Gly283=)
|
rs1774062925
|
|
NM_000045.4(ARG1):c.84T>C (p.Pro28=)
|
|
|
NM_000045.4(ARG1):c.858A>G (p.Pro286=)
|
rs2114551265
|
|
NM_000045.4(ARG1):c.876A>G (p.Thr292=)
|
|
|
NM_000045.4(ARG1):c.876A>T (p.Thr292=)
|
|
|
NM_000045.4(ARG1):c.879G>C (p.Val293=)
|
|
|
NM_000045.4(ARG1):c.87A>C (p.Thr29=)
|
|
|
NM_000045.4(ARG1):c.87A>G (p.Thr29=)
|
rs1373647667
|
|
NM_000045.4(ARG1):c.885A>G (p.Thr295=)
|
rs750083218
|
|
NM_000045.4(ARG1):c.885A>T (p.Thr295=)
|
rs750083218
|
|
NM_000045.4(ARG1):c.900C>G (p.Thr300=)
|
|
|
NM_000045.4(ARG1):c.901T>C (p.Leu301=)
|
rs748708936
|
|
NM_000045.4(ARG1):c.903G>A (p.Leu301=)
|
rs2114551538
|
|
NM_000045.4(ARG1):c.906T>G (p.Ala302=)
|
|
|
NM_000045.4(ARG1):c.915A>G (p.Gly305=)
|
|
|
NM_000045.4(ARG1):c.918T>C (p.Leu306=)
|
|
|
NM_000045.4(ARG1):c.924G>T (p.Arg308=)
|
|
|
NM_000045.4(ARG1):c.927G>A (p.Glu309=)
|
|
|
NM_000045.4(ARG1):c.936C>T (p.His312=)
|
rs776119677
|
|
NM_000045.4(ARG1):c.93G>A (p.Leu31=)
|
rs1773630165
|
|
NM_000045.4(ARG1):c.963T>C (p.Pro321=)
|
rs2114551913
|
|
NM_000045.4(ARG1):c.9C>G (p.Ala3=)
|
|
|
NM_000048.4(ASL):c.1005G>C (p.Val335=)
|
rs2115746700
|
|
NM_000048.4(ASL):c.1008A>G (p.Ser336=)
|
rs2115746741
|
|
NM_000048.4(ASL):c.1050C>T (p.Ile350=)
|
|
|
NM_000048.4(ASL):c.1056G>C (p.Thr352=)
|
rs745476328
|
|
NM_000048.4(ASL):c.1062+12C>T
|
|
|
NM_000048.4(ASL):c.1062+13C>A
|
|
|
NM_000048.4(ASL):c.1062+13C>T
|
|
|
NM_000048.4(ASL):c.1062+16C>A
|
|
|
NM_000048.4(ASL):c.1062+17C>G
|
|
|
NM_000048.4(ASL):c.1062+7C>G
|
|
|
NM_000048.4(ASL):c.1062+7C>T
|
rs2115747359
|
|
NM_000048.4(ASL):c.1063-10G>A
|
|
|
NM_000048.4(ASL):c.1063-12C>T
|
|
|
NM_000048.4(ASL):c.1063-14A>T
|
|
|
NM_000048.4(ASL):c.1063-15C>T
|
|
|
NM_000048.4(ASL):c.1063-19C>T
|
|
|
NM_000048.4(ASL):c.1065T>A (p.Ile355=)
|
|
|
NM_000048.4(ASL):c.1068C>T (p.His356=)
|
|
|
NM_000048.4(ASL):c.1077C>T (p.Asn359=)
|
rs372785881
|
|
NM_000048.4(ASL):c.1095C>T (p.Ser365=)
|
rs749559501
|
|
NM_000048.4(ASL):c.1143+16C>A
|
|
|
NM_000048.4(ASL):c.1143+18del
|
|
|
NM_000048.4(ASL):c.1143+20G>T
|
|
|
NM_000048.4(ASL):c.1143+8T>G
|
|
|
NM_000048.4(ASL):c.1144-14T>A
|
|
|
NM_000048.4(ASL):c.1144-15C>T
|
|
|
NM_000048.4(ASL):c.1144-19C>T
|
|
|
NM_000048.4(ASL):c.1144-5C>T
|
rs1429849711
|
|
NM_000048.4(ASL):c.114T>C (p.Asp38=)
|
|
|
NM_000048.4(ASL):c.1167G>A (p.Glu389=)
|
|
|
NM_000048.4(ASL):c.1170C>G (p.Ala390=)
|
|
|
NM_000048.4(ASL):c.1170C>T (p.Ala390=)
|
rs747116101
|
|
NM_000048.4(ASL):c.1176G>C (p.Gly392=)
|
rs2115764470
|
|
NM_000048.4(ASL):c.1185G>C (p.Val395=)
|
|
|
NM_000048.4(ASL):c.1194C>A (p.Ala398=)
|
|
|
NM_000048.4(ASL):c.1194C>T (p.Ala398=)
|
rs149370610
|
|
NM_000048.4(ASL):c.1197G>A (p.Glu399=)
|
rs2115764700
|
|
NM_000048.4(ASL):c.12+11C>A
|
|
|
NM_000048.4(ASL):c.12+14C>T
|
|
|
NM_000048.4(ASL):c.12+15G>T
|
|
|
NM_000048.4(ASL):c.12+17G>A
|
|
|
NM_000048.4(ASL):c.12+20C>A
|
|
|
NM_000048.4(ASL):c.12+8G>A
|
|
|
NM_000048.4(ASL):c.1206G>A (p.Gly402=)
|
|
|
NM_000048.4(ASL):c.1209C>T (p.Val403=)
|
rs1179470187
|
|
NM_000048.4(ASL):c.120A>G (p.Gln40=)
|
rs1786514929
|
|
NM_000048.4(ASL):c.1215C>T (p.Leu405=)
|
|
|
NM_000048.4(ASL):c.1221G>A (p.Gln407=)
|
|
|
NM_000048.4(ASL):c.1222C>T (p.Leu408=)
|
rs2115764958
|
|
NM_000048.4(ASL):c.1224G>A (p.Leu408=)
|
rs2115764992
|
|
NM_000048.4(ASL):c.1227A>G (p.Ser409=)
|
|
|
NM_000048.4(ASL):c.1228C>T (p.Leu410=)
|
|
|
NM_000048.4(ASL):c.1230G>A (p.Leu410=)
|
|
|
NM_000048.4(ASL):c.1250+11del
|
|
|
NM_000048.4(ASL):c.1250+18C>T
|
|
|
NM_000048.4(ASL):c.1250+8C>T
|
|
|
NM_000048.4(ASL):c.1251-10C>G
|
rs2115766036
|
|
NM_000048.4(ASL):c.1251-10C>T
|
|
|
NM_000048.4(ASL):c.1251-18C>A
|
|
|
NM_000048.4(ASL):c.1251-4C>G
|
|
|
NM_000048.4(ASL):c.1251-8C>G
|
|
|
NM_000048.4(ASL):c.1251-8C>T
|
|
|
NM_000048.4(ASL):c.1254C>T (p.Pro418=)
|
rs2115766177
|
|
NM_000048.4(ASL):c.1255C>T (p.Leu419=)
|
|
|
NM_000048.4(ASL):c.1257G>A (p.Leu419=)
|
|
|
NM_000048.4(ASL):c.1266C>A (p.Gly422=)
|
rs538342522
|
|
NM_000048.4(ASL):c.1296C>T (p.His432=)
|
|
|
NM_000048.4(ASL):c.13-10T>C
|
rs2115689838
|
|
NM_000048.4(ASL):c.13-12T>A
|
|
|
NM_000048.4(ASL):c.13-14G>T
|
|
|
NM_000048.4(ASL):c.13-19T>C
|
|
|
NM_000048.4(ASL):c.13-7T>C
|
|
|
NM_000048.4(ASL):c.13-8C>T
|
rs2115689858
|
|
NM_000048.4(ASL):c.1317C>T (p.Ala439=)
|
rs755170923
|
|
NM_000048.4(ASL):c.1366C>A (p.Arg456=)
|
|
|
NM_000048.4(ASL):c.1368G>A (p.Arg456=)
|
|
|
NM_000048.4(ASL):c.1371G>T (p.Ala457=)
|
|
|
NM_000048.4(ASL):c.1372C>T (p.Leu458=)
|
rs1175698932
|
|
NM_000048.4(ASL):c.1374A>G (p.Leu458=)
|
|
|
NM_000048.4(ASL):c.1377G>A (p.Leu459=)
|
rs2115767668
|
|
NM_000048.4(ASL):c.1386G>A (p.Gln462=)
|
rs1274669918
|
|
NM_000048.4(ASL):c.1395G>A (p.Ter465=)
|
rs1339615185
|
|
NM_000048.4(ASL):c.144C>T (p.Gly48=)
|
|
|
NM_000048.4(ASL):c.165C>T (p.Leu55=)
|
|
|
NM_000048.4(ASL):c.174C>A (p.Ala58=)
|
|
|
NM_000048.4(ASL):c.18G>A (p.Gly6=)
|
|
|
NM_000048.4(ASL):c.204C>T (p.Asp68=)
|
rs2115691807
|
|
NM_000048.4(ASL):c.207+10G>C
|
|
|
NM_000048.4(ASL):c.207+18A>G
|
|
|
NM_000048.4(ASL):c.207+19G>C
|
|
|
NM_000048.4(ASL):c.207+8C>A
|
|
|
NM_000048.4(ASL):c.207+9C>A
|
|
|
NM_000048.4(ASL):c.207+9C>G
|
|
|
NM_000048.4(ASL):c.208-14G>T
|
|
|
NM_000048.4(ASL):c.208-19T>C
|
|
|
NM_000048.4(ASL):c.208-5T>C
|
|
|
NM_000048.4(ASL):c.225C>A (p.Ala75=)
|
|
|
NM_000048.4(ASL):c.241C>T (p.Leu81=)
|
rs1297216151
|
|
NM_000048.4(ASL):c.252T>C (p.Asn84=)
|
|
|
NM_000048.4(ASL):c.255T>C (p.Asp85=)
|
rs2115694775
|
|
NM_000048.4(ASL):c.261C>T (p.Asp87=)
|
rs1215546982
|
|
NM_000048.4(ASL):c.267C>T (p.His89=)
|
|
|
NM_000048.4(ASL):c.276T>C (p.Asn92=)
|
rs780895668
|
|
NM_000048.4(ASL):c.282C>T (p.Arg94=)
|
rs2115695015
|
|
NM_000048.4(ASL):c.285C>T (p.Arg95=)
|
rs757105613
|
|
NM_000048.4(ASL):c.286C>T (p.Leu96=)
|
rs1042681659
|
|
NM_000048.4(ASL):c.288G>C (p.Leu96=)
|
rs2115695181
|
|
NM_000048.4(ASL):c.291+17C>A
|
|
|
NM_000048.4(ASL):c.291+17C>G
|
|
|
NM_000048.4(ASL):c.291+7C>A
|
rs371162956
|
|
NM_000048.4(ASL):c.291+8C>A
|
rs781492633
|
|
NM_000048.4(ASL):c.292-12C>T
|
|
|
NM_000048.4(ASL):c.292-12del
|
|
|
NM_000048.4(ASL):c.292-18G>A
|
|
|
NM_000048.4(ASL):c.292-7C>T
|
rs748643275
|
|
NM_000048.4(ASL):c.306A>C (p.Ala102=)
|
rs192537483
|
|
NM_000048.4(ASL):c.309G>C (p.Thr103=)
|
|
|
NM_000048.4(ASL):c.324C>T (p.His108=)
|
|
|
NM_000048.4(ASL):c.333G>T (p.Arg111=)
|
rs2115698584
|
|
NM_000048.4(ASL):c.348+10C>T
|
rs779302505
|
|
NM_000048.4(ASL):c.348+12C>T
|
|
|
NM_000048.4(ASL):c.348+18C>G
|
|
|
NM_000048.4(ASL):c.348+19C>T
|
|
|
NM_000048.4(ASL):c.348+20C>G
|
|
|
NM_000048.4(ASL):c.348+8dup
|
|
|
NM_000048.4(ASL):c.348+9G>T
|
rs2115698826
|
|
NM_000048.4(ASL):c.349-13C>A
|
|
|
NM_000048.4(ASL):c.349-18C>T
|
|
|
NM_000048.4(ASL):c.349-5C>T
|
rs1400200414
|
|
NM_000048.4(ASL):c.349-6G>T
|
rs2115699934
|
|
NM_000048.4(ASL):c.349-9C>G
|
|
|
NM_000048.4(ASL):c.351G>C (p.Val117=)
|
|
|
NM_000048.4(ASL):c.367C>T (p.Leu123=)
|
rs2115700058
|
|
NM_000048.4(ASL):c.396C>T (p.Leu132=)
|
rs2115700372
|
|
NM_000048.4(ASL):c.399G>C (p.Ser133=)
|
rs141584041
|
|
NM_000048.4(ASL):c.402C>A (p.Gly134=)
|
rs1308519514
|
|
NM_000048.4(ASL):c.405C>T (p.Leu135=)
|
rs372653036
|
|
NM_000048.4(ASL):c.408C>T (p.Leu136=)
|
|
|
NM_000048.4(ASL):c.426C>T (p.Thr142=)
|
|
|
NM_000048.4(ASL):c.446+14G>A
|
|
|
NM_000048.4(ASL):c.447-10T>C
|
|
|
NM_000048.4(ASL):c.447-18G>C
|
|
|
NM_000048.4(ASL):c.447-9C>T
|
|
|
NM_000048.4(ASL):c.45T>C (p.Gly15=)
|
rs2115690225
|
|
NM_000048.4(ASL):c.465C>T (p.Phe155=)
|
|
|
NM_000048.4(ASL):c.471G>A (p.Gly157=)
|
|
|
NM_000048.4(ASL):c.471G>T (p.Gly157=)
|
|
|
NM_000048.4(ASL):c.486G>A (p.Gln162=)
|
rs1786669549
|
|
NM_000048.4(ASL):c.48A>G (p.Ala16=)
|
|
|
NM_000048.4(ASL):c.492C>T (p.Ala164=)
|
|
|
NM_000048.4(ASL):c.51G>A (p.Val17=)
|
|
|
NM_000048.4(ASL):c.524+10G>A
|
|
|
NM_000048.4(ASL):c.524+14G>A
|
rs1398644718
|
|
NM_000048.4(ASL):c.524+16T>C
|
|
|
NM_000048.4(ASL):c.524+17G>A
|
|
|
NM_000048.4(ASL):c.525-10C>T
|
|
|
NM_000048.4(ASL):c.525-11G>A
|
|
|
NM_000048.4(ASL):c.525-14C>T
|
|
|
NM_000048.4(ASL):c.525-16C>T
|
|
|
NM_000048.4(ASL):c.525-8T>C
|
|
|
NM_000048.4(ASL):c.531C>A (p.Ala177=)
|
rs201974677
|
|
NM_000048.4(ASL):c.531C>T (p.Ala177=)
|
rs201974677
|
|
NM_000048.4(ASL):c.540G>C (p.Leu180=)
|
rs1584027903
|
|
NM_000048.4(ASL):c.549C>T (p.Asp183=)
|
|
|
NM_000048.4(ASL):c.54C>T (p.Asp18=)
|
rs1309121791
|
|
NM_000048.4(ASL):c.562C>T (p.Leu188=)
|
|
|
NM_000048.4(ASL):c.564G>A (p.Leu188=)
|
|
|
NM_000048.4(ASL):c.564G>T (p.Leu188=)
|
|
|
NM_000048.4(ASL):c.573G>C (p.Arg191=)
|
rs1470984058
|
|
NM_000048.4(ASL):c.577C>A (p.Arg193=)
|
|
|
NM_000048.4(ASL):c.579G>C (p.Arg193=)
|
rs2115725998
|
|
NM_000048.4(ASL):c.589C>T (p.Leu197=)
|
rs2115726114
|
|
NM_000048.4(ASL):c.594C>G (p.Pro198=)
|
rs760887143
|
|
NM_000048.4(ASL):c.597G>C (p.Leu199=)
|
rs1268487200
|
|
NM_000048.4(ASL):c.597G>T (p.Leu199=)
|
|
|
NM_000048.4(ASL):c.602+18G>A
|
|
|
NM_000048.4(ASL):c.602+18G>T
|
|
|
NM_000048.4(ASL):c.602+19C>T
|
|
|
NM_000048.4(ASL):c.603-10G>A
|
rs1179948747
|
|
NM_000048.4(ASL):c.603-12C>T
|
|
|
NM_000048.4(ASL):c.603-13C>T
|
|
|
NM_000048.4(ASL):c.603-14C>T
|
|
|
NM_000048.4(ASL):c.603-20A>T
|
rs376008291
|
|
NM_000048.4(ASL):c.603-7C>G
|
|
|
NM_000048.4(ASL):c.603-8C>T
|
|
|
NM_000048.4(ASL):c.606G>T (p.Gly202=)
|
rs781714725
|
|
NM_000048.4(ASL):c.60C>T (p.Ile20=)
|
rs910643561
|
|
NM_000048.4(ASL):c.612T>C (p.Ile204=)
|
rs2115730140
|
|
NM_000048.4(ASL):c.627G>A (p.Leu209=)
|
|
|
NM_000048.4(ASL):c.639A>G (p.Arg213=)
|
|
|
NM_000048.4(ASL):c.651A>G (p.Arg217=)
|
|
|
NM_000048.4(ASL):c.655+10C>G
|
rs756614378
|
|
NM_000048.4(ASL):c.655+16C>T
|
|
|
NM_000048.4(ASL):c.655+20C>T
|
|
|
NM_000048.4(ASL):c.655+8G>T
|
rs200203985
|
|
NM_000048.4(ASL):c.656-10_656-7del
|
|
|
NM_000048.4(ASL):c.656-10del
|
rs2115732818
|
|
NM_000048.4(ASL):c.656-12C>T
|
|
|
NM_000048.4(ASL):c.656-13C>T
|
|
|
NM_000048.4(ASL):c.656-4C>G
|
rs571362354
|
|
NM_000048.4(ASL):c.656-4C>T
|
rs571362354
|
|
NM_000048.4(ASL):c.656-5C>G
|
|
|
NM_000048.4(ASL):c.656-5C>T
|
rs201814807
|
|
NM_000048.4(ASL):c.656-6C>A
|
|
|
NM_000048.4(ASL):c.656-6C>T
|
|
|
NM_000048.4(ASL):c.656-7C>T
|
|
|
NM_000048.4(ASL):c.656-9C>A
|
|
|
NM_000048.4(ASL):c.656-9C>T
|
|
|
NM_000048.4(ASL):c.66G>A (p.Glu22=)
|
|
|
NM_000048.4(ASL):c.681C>T (p.Leu227=)
|
|
|
NM_000048.4(ASL):c.687C>T (p.Ser229=)
|
|
|
NM_000048.4(ASL):c.711C>T (p.Asp237=)
|
|
|
NM_000048.4(ASL):c.718+10G>C
|
|
|
NM_000048.4(ASL):c.718+15G>A
|
|
|
NM_000048.4(ASL):c.718+15G>C
|
|
|
NM_000048.4(ASL):c.718+20T>C
|
|
|
NM_000048.4(ASL):c.718+7C>T
|
|
|
NM_000048.4(ASL):c.718+8C>T
|
rs1445565689
|
|
NM_000048.4(ASL):c.719-13C>A
|
|
|
NM_000048.4(ASL):c.719-13C>T
|
|
|
NM_000048.4(ASL):c.719-19T>C
|
|
|
NM_000048.4(ASL):c.719-5C>T
|
|
|
NM_000048.4(ASL):c.720C>G (p.Ala240=)
|
rs764072757
|
|
NM_000048.4(ASL):c.723G>A (p.Glu241=)
|
|
|
NM_000048.4(ASL):c.729G>A (p.Leu243=)
|
rs1584031066
|
|
NM_000048.4(ASL):c.741G>A (p.Ser247=)
|
rs371927473
|
|
NM_000048.4(ASL):c.741G>C (p.Ser247=)
|
rs371927473
|
|
NM_000048.4(ASL):c.741G>T (p.Ser247=)
|
rs371927473
|
|
NM_000048.4(ASL):c.771C>A (p.Ala257=)
|
rs375586912
|
|
NM_000048.4(ASL):c.786C>G (p.Leu262=)
|
|
|
NM_000048.4(ASL):c.78G>A (p.Ala26=)
|
rs115069006
|
|
NM_000048.4(ASL):c.78G>C (p.Ala26=)
|
rs115069006
|
|
NM_000048.4(ASL):c.78G>T (p.Ala26=)
|
rs115069006
|
|
NM_000048.4(ASL):c.810C>T (p.Phe270=)
|
|
|
NM_000048.4(ASL):c.813G>A (p.Val271=)
|
|
|
NM_000048.4(ASL):c.81C>T (p.Ser27=)
|
rs2115690655
|
|
NM_000048.4(ASL):c.822A>G (p.Ser274=)
|
|
|
NM_000048.4(ASL):c.831C>T (p.Tyr277=)
|
rs2115739815
|
|
NM_000048.4(ASL):c.833+19C>T
|
|
|
NM_000048.4(ASL):c.833+7C>T
|
rs2115739894
|
|
NM_000048.4(ASL):c.834-12C>T
|
|
|
NM_000048.4(ASL):c.834-13C>T
|
|
|
NM_000048.4(ASL):c.834-20G>T
|
|
|
NM_000048.4(ASL):c.834-5C>T
|
rs373749562
|
|
NM_000048.4(ASL):c.834-6C>T
|
|
|
NM_000048.4(ASL):c.834-9T>C
|
|
|
NM_000048.4(ASL):c.837G>C (p.Thr279=)
|
rs543255240
|
|
NM_000048.4(ASL):c.837G>T (p.Thr279=)
|
|
|
NM_000048.4(ASL):c.843C>T (p.Ser281=)
|
rs2115741445
|
|
NM_000048.4(ASL):c.849G>A (p.Leu283=)
|
|
|
NM_000048.4(ASL):c.855C>G (p.Pro285=)
|
rs760378137
|
|
NM_000048.4(ASL):c.870C>T (p.Pro290=)
|
rs764804216
|
|
NM_000048.4(ASL):c.888C>T (p.Ile296=)
|
|
|
NM_000048.4(ASL):c.891G>T (p.Arg297=)
|
rs1377192458
|
|
NM_000048.4(ASL):c.903G>A (p.Gly301=)
|
rs2115741935
|
|
NM_000048.4(ASL):c.909G>A (p.Val303=)
|
|
|
NM_000048.4(ASL):c.916C>A (p.Arg306=)
|
|
|
NM_000048.4(ASL):c.918+10G>A
|
|
|
NM_000048.4(ASL):c.918+11_918+14dup
|
rs2115742201
|
|
NM_000048.4(ASL):c.918+12A>G
|
rs2115742216
|
|
NM_000048.4(ASL):c.918+12del
|
|
|
NM_000048.4(ASL):c.918+18A>G
|
|
|
NM_000048.4(ASL):c.918+19G>A
|
|
|
NM_000048.4(ASL):c.918+8A>G
|
|
|
NM_000048.4(ASL):c.919-10_919-9del
|
|
|
NM_000048.4(ASL):c.919-12C>T
|
|
|
NM_000048.4(ASL):c.919-16C>A
|
|
|
NM_000048.4(ASL):c.919-20G>A
|
|
|
NM_000048.4(ASL):c.919-4G>T
|
rs756230523
|
|
NM_000048.4(ASL):c.919-5C>T
|
rs746354859
|
|
NM_000048.4(ASL):c.919-7C>T
|
|
|
NM_000048.4(ASL):c.927G>A (p.Gly309=)
|
|
|
NM_000048.4(ASL):c.927G>C (p.Gly309=)
|
rs151294789
|
|
NM_000048.4(ASL):c.930C>T (p.Leu310=)
|
|
|
NM_000048.4(ASL):c.951T>A (p.Leu317=)
|
rs765914227
|
|
NM_000048.4(ASL):c.960C>A (p.Thr320=)
|
rs2115743513
|
|
NM_000048.4(ASL):c.963C>T (p.Tyr321=)
|
|
|
NM_000048.4(ASL):c.96G>C (p.Arg32=)
|
rs2115690889
|
|
NM_000048.4(ASL):c.978+10C>G
|
rs535237668
|
|
NM_000048.4(ASL):c.978+10C>T
|
rs535237668
|
|
NM_000048.4(ASL):c.978+11G>A
|
|
|
NM_000048.4(ASL):c.978+12G>A
|
|
|
NM_000048.4(ASL):c.978+15G>A
|
|
|
NM_000048.4(ASL):c.978+17G>T
|
|
|
NM_000048.4(ASL):c.979-11G>T
|
|
|
NM_000048.4(ASL):c.979-12T>C
|
|
|
NM_000048.4(ASL):c.979-13A>G
|
|
|
NM_000048.4(ASL):c.979-15C>T
|
|
|
NM_000048.4(ASL):c.979-16G>A
|
|
|
NM_000048.4(ASL):c.979-18C>G
|
|
|
NM_000048.4(ASL):c.979-6T>C
|
rs1584032729
|
|
NM_000048.4(ASL):c.979-9G>A
|
rs2115746380
|
|
NM_000048.4(ASL):c.984C>T (p.Asp328=)
|
rs2115746525
|
|
NM_000048.4(ASL):c.990A>G (p.Glu330=)
|
|
|
NM_000048.4(ASL):c.996G>A (p.Val332=)
|
|
|
NM_000048.4(ASL):c.99C>A (p.His33Gln)
|
|
|
NM_000048.4(ASL):c.99C>G (p.His33Gln)
|
rs142077823
|
|
NM_000048.4(ASL):c.99C>T (p.His33=)
|
rs142077823
|
|
NM_000071.3(CBS):c.1008C>A (p.Arg336=)
|
|
|
NM_000071.3(CBS):c.1008C>T (p.Arg336=)
|
|
|
NM_000071.3(CBS):c.1014G>A (p.Leu338=)
|
rs761405806
|
|
NM_000071.3(CBS):c.1017C>T (p.Ile339=)
|
rs773933333
|
|
NM_000071.3(CBS):c.1020G>T (p.Ala340=)
|
|
|
NM_000071.3(CBS):c.102G>A (p.Glu34=)
|
|
|
NM_000071.3(CBS):c.1035G>A (p.Leu345=)
|
rs746340769
|
|
NM_000071.3(CBS):c.1039+10T>C
|
rs1343344368
|
|
NM_000071.3(CBS):c.1039+13C>A
|
|
|
NM_000071.3(CBS):c.1039+13C>T
|
|
|
NM_000071.3(CBS):c.1039+14G>A
|
|
|
NM_000071.3(CBS):c.1039+19C>A
|
|
|
NM_000071.3(CBS):c.1039+19C>G
|
|
|
NM_000071.3(CBS):c.1039+20G>T
|
|
|
NM_000071.3(CBS):c.1039+7G>A
|
|
|
NM_000071.3(CBS):c.1039+7G>C
|
rs2146362915
|
|
NM_000071.3(CBS):c.1039+9G>A
|
|
|
NM_000071.3(CBS):c.1040-10C>T
|
rs1601344657
|
|
NM_000071.3(CBS):c.1040-10CT[2]
|
|
|
NM_000071.3(CBS):c.1040-13G>A
|
|
|
NM_000071.3(CBS):c.1040-15_1040-13del
|
|
|
NM_000071.3(CBS):c.1040-17C>T
|
|
|
NM_000071.3(CBS):c.1041T>C (p.Gly347=)
|
rs573954005
|
|
NM_000071.3(CBS):c.1065G>C (p.Ala355=)
|
rs748552493
|
|
NM_000071.3(CBS):c.1071C>G (p.Ala357=)
|
rs368206976
|
|
NM_000071.3(CBS):c.1071C>T (p.Ala357=)
|
rs368206976
|
|
NM_000071.3(CBS):c.1074G>C (p.Val358=)
|
rs570135008
|
|
NM_000071.3(CBS):c.1089G>A (p.Glu363=)
|
rs1601343953
|
|
NM_000071.3(CBS):c.1090C>T (p.Leu364=)
|
|
|
NM_000071.3(CBS):c.1098G>A (p.Glu366=)
|
rs1601343873
|
|
NM_000071.3(CBS):c.1113G>A (p.Val371=)
|
|
|
NM_000071.3(CBS):c.1116C>G (p.Val372=)
|
|
|
NM_000071.3(CBS):c.1125C>G (p.Pro375=)
|
rs146180894
|
|
NM_000071.3(CBS):c.1145+10G>C
|
|
|
NM_000071.3(CBS):c.1145+12C>T
|
|
|
NM_000071.3(CBS):c.1145+16C>T
|
|
|
NM_000071.3(CBS):c.1145+17C>G
|
|
|
NM_000071.3(CBS):c.1145+17C>T
|
|
|
NM_000071.3(CBS):c.1145+19C>T
|
|
|
NM_000071.3(CBS):c.1145+8dup
|
|
|
NM_000071.3(CBS):c.1145+9C>A
|
|
|
NM_000071.3(CBS):c.1146-10C>G
|
rs1379534542
|
|
NM_000071.3(CBS):c.1146-10C>T
|
|
|
NM_000071.3(CBS):c.1146-11C>T
|
|
|
NM_000071.3(CBS):c.1146-13C>T
|
|
|
NM_000071.3(CBS):c.1146-19T>G
|
|
|
NM_000071.3(CBS):c.1146-20G>A
|
rs1057522600
|
|
NM_000071.3(CBS):c.1146-4G>C
|
|
|
NM_000071.3(CBS):c.1146-4G>T
|
|
|
NM_000071.3(CBS):c.1146-6C>T
|
rs1981696579
|
|
NM_000071.3(CBS):c.1149C>T (p.Thr383=)
|
rs2146344423
|
|
NM_000071.3(CBS):c.114C>G (p.Ala38=)
|
rs2146428122
|
|
NM_000071.3(CBS):c.1164C>T (p.Asp388=)
|
rs2146344263
|
|
NM_000071.3(CBS):c.1165A>C (p.Arg389=)
|
rs1601339535
|
|
NM_000071.3(CBS):c.1174C>T (p.Leu392=)
|
|
|
NM_000071.3(CBS):c.117G>A (p.Lys39=)
|
rs2146428109
|
|
NM_000071.3(CBS):c.1182G>A (p.Lys394=)
|
|
|
NM_000071.3(CBS):c.1188T>C (p.Phe396=)
|
|
|
NM_000071.3(CBS):c.1191G>T (p.Leu397=)
|
|
|
NM_000071.3(CBS):c.1200G>A (p.Glu400=)
|
|
|
NM_000071.3(CBS):c.1221C>G (p.Pro407=)
|
|
|
NM_000071.3(CBS):c.1223+10C>T
|
|
|
NM_000071.3(CBS):c.1223+123_1224-87del
|
rs1416544817
|
|
NM_000071.3(CBS):c.1223+13G>T
|
|
|
NM_000071.3(CBS):c.1223+16C>T
|
|
|
NM_000071.3(CBS):c.1223+17G>A
|
|
|
NM_000071.3(CBS):c.1223+19A>G
|
rs2146343442
|
|
NM_000071.3(CBS):c.1223+7C>T
|
rs2146343623
|
|
NM_000071.3(CBS):c.1223+8C>A
|
rs747888658
|
|
NM_000071.3(CBS):c.1223+8C>T
|
rs747888658
|
|
NM_000071.3(CBS):c.1223+9G>A
|
rs1000757478
|
|
NM_000071.3(CBS):c.1224-12C>T
|
rs779601404
|
|
NM_000071.3(CBS):c.1224-13C>T
|
|
|
NM_000071.3(CBS):c.1224-14C>G
|
|
|
NM_000071.3(CBS):c.1224-20G>A
|
|
|
NM_000071.3(CBS):c.1224-20G>T
|
|
|
NM_000071.3(CBS):c.1224-7C>T
|
|
|
NM_000071.3(CBS):c.1233C>T (p.His411=)
|
rs2146342075
|
|
NM_000071.3(CBS):c.1239T>A (p.Arg413=)
|
|
|
NM_000071.3(CBS):c.1239T>C (p.Arg413=)
|
rs2146341997
|
|
NM_000071.3(CBS):c.1245G>A (p.Gln415=)
|
|
|
NM_000071.3(CBS):c.1251G>C (p.Leu417=)
|
|
|
NM_000071.3(CBS):c.1257G>C (p.Leu419=)
|
rs138432416
|
|
NM_000071.3(CBS):c.1260A>C (p.Ser420=)
|
rs1060503997
|
|
NM_000071.3(CBS):c.1260A>G (p.Ser420=)
|
rs1060503997
|
|
NM_000071.3(CBS):c.126G>A (p.Leu42=)
|
|
|
NM_000071.3(CBS):c.1272C>G (p.Thr424=)
|
rs141717913
|
|
NM_000071.3(CBS):c.1290C>T (p.Thr430=)
|
rs746564702
|
|
NM_000071.3(CBS):c.1296G>T (p.Gly432=)
|
|
|
NM_000071.3(CBS):c.1305C>A (p.Ile435=)
|
rs769351162
|
|
NM_000071.3(CBS):c.1305C>T (p.Ile435=)
|
rs769351162
|
|
NM_000071.3(CBS):c.1311C>T (p.Ile437=)
|
|
|
NM_000071.3(CBS):c.1320G>A (p.Glu440=)
|
rs2146340988
|
|
NM_000071.3(CBS):c.1323G>A (p.Lys441=)
|
rs2146340959
|
|
NM_000071.3(CBS):c.132C>T (p.Ile44=)
|
|
|
NM_000071.3(CBS):c.1338G>T (p.Ala446=)
|
rs373962057
|
|
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|
|
NM_000071.3(CBS):c.84G>A (p.Leu28=)
|
rs1601384336
|
|
NM_000071.3(CBS):c.852G>A (p.Gly284=)
|
rs1269665368
|
|
NM_000071.3(CBS):c.855C>T (p.Ser285=)
|
rs1201628362
|
|
NM_000071.3(CBS):c.861C>T (p.Leu287=)
|
rs754312192
|
|
NM_000071.3(CBS):c.864A>C (p.Ala288=)
|
rs2146367182
|
|
NM_000071.3(CBS):c.870G>C (p.Pro290=)
|
rs773580068
|
|
NM_000071.3(CBS):c.87G>A (p.Glu29=)
|
|
|
NM_000071.3(CBS):c.888G>C (p.Thr296=)
|
|
|
NM_000071.3(CBS):c.906G>A (p.Glu302=)
|
rs2146366576
|
|
NM_000071.3(CBS):c.90G>A (p.Lys30=)
|
rs2146428287
|
|
NM_000071.3(CBS):c.915G>C (p.Gly305=)
|
|
|
NM_000071.3(CBS):c.915G>T (p.Gly305=)
|
|
|
NM_000071.3(CBS):c.933C>T (p.Ile311=)
|
rs2146366372
|
|
NM_000071.3(CBS):c.936C>T (p.Pro312=)
|
rs1601351871
|
|
NM_000071.3(CBS):c.93G>T (p.Gly31=)
|
rs754409674
|
|
NM_000071.3(CBS):c.945G>A (p.Leu315=)
|
rs2146366216
|
|
NM_000071.3(CBS):c.948C>T (p.Asp316=)
|
|
|
NM_000071.3(CBS):c.954+10G>A
|
|
|
NM_000071.3(CBS):c.954+15G>T
|
|
|
NM_000071.3(CBS):c.954+17G>A
|
|
|
NM_000071.3(CBS):c.954+18C>G
|
rs1057521202
|
|
NM_000071.3(CBS):c.954+20C>A
|
|
|
NM_000071.3(CBS):c.954+8G>T
|
|
|
NM_000071.3(CBS):c.954+9A>G
|
|
|
NM_000071.3(CBS):c.955-11G>T
|
|
|
NM_000071.3(CBS):c.955-5C>A
|
rs746366131
|
|
NM_000071.3(CBS):c.955-5C>T
|
|
|
NM_000071.3(CBS):c.955-8C>T
|
rs1290305207
|
|
NM_000071.3(CBS):c.957G>C (p.Val319=)
|
|
|
NM_000071.3(CBS):c.972C>T (p.Phe324=)
|
|
|
NM_000071.3(CBS):c.978C>T (p.Ser326=)
|
rs1343681863
|
|
NM_000071.3(CBS):c.990G>A (p.Glu330=)
|
rs1373353287
|
|
NM_000108.5(DLD):c.1005T>C (p.Gly335=)
|
rs763878786
|
|
NM_000108.5(DLD):c.1011T>C (p.Ile337=)
|
rs761507009
|
|
NM_000108.5(DLD):c.1014A>G (p.Pro338=)
|
rs764979410
|
|
NM_000108.5(DLD):c.1023C>A (p.Thr341=)
|
rs2116270465
|
|
NM_000108.5(DLD):c.1023C>T (p.Thr341=)
|
rs2116270465
|
|
NM_000108.5(DLD):c.1035T>C (p.Thr345=)
|
|
|
NM_000108.5(DLD):c.1044A>C (p.Pro348=)
|
rs1241426016
|
|
NM_000108.5(DLD):c.1046+16G>A
|
|
|
NM_000108.5(DLD):c.1046+16G>T
|
|
|
NM_000108.5(DLD):c.1047-13A>T
|
|
|
NM_000108.5(DLD):c.1047-13_1047-5del
|
rs1462836154
|
|
NM_000108.5(DLD):c.1047-19C>A
|
|
|
NM_000108.5(DLD):c.1047-4G>T
|
rs2116271429
|
|
NM_000108.5(DLD):c.1047-7G>A
|
|
|
NM_000108.5(DLD):c.1047-7G>T
|
|
|
NM_000108.5(DLD):c.1047-7_1047-4del
|
rs2116271424
|
|
NM_000108.5(DLD):c.1053T>C (p.Tyr351=)
|
rs2116271455
|
|
NM_000108.5(DLD):c.1074T>C (p.Ala358=)
|
|
|
NM_000108.5(DLD):c.108A>G (p.Ala36=)
|
|
|
NM_000108.5(DLD):c.108A>T (p.Ala36=)
|
|
|
NM_000108.5(DLD):c.1095A>G (p.Lys365=)
|
|
|
NM_000108.5(DLD):c.1113T>C (p.Ile371=)
|
rs773097241
|
|
NM_000108.5(DLD):c.1116C>A (p.Ile372=)
|
rs2116271616
|
|
NM_000108.5(DLD):c.1158C>T (p.Tyr386=)
|
|
|
NM_000108.5(DLD):c.1173A>G (p.Ser391=)
|
|
|
NM_000108.5(DLD):c.1179T>C (p.Ile393=)
|
|
|
NM_000108.5(DLD):c.118+10T>G
|
rs1436028319
|
|
NM_000108.5(DLD):c.118+11A>G
|
|
|
NM_000108.5(DLD):c.118+13G>A
|
|
|
NM_000108.5(DLD):c.118+18A>G
|
|
|
NM_000108.5(DLD):c.118+19C>G
|
|
|
NM_000108.5(DLD):c.118+19C>T
|
|
|
NM_000108.5(DLD):c.119-16T>C
|
|
|
NM_000108.5(DLD):c.119-18A>T
|
|
|
NM_000108.5(DLD):c.119-7A>G
|
rs2116206903
|
|
NM_000108.5(DLD):c.119-9T>C
|
|
|
NM_000108.5(DLD):c.1191T>C (p.Pro397=)
|
rs2116272074
|
|
NM_000108.5(DLD):c.1215A>G (p.Ser405=)
|
|
|
NM_000108.5(DLD):c.1221G>A (p.Glu407=)
|
|
|
NM_000108.5(DLD):c.1233A>G (p.Glu411=)
|
|
|
NM_000108.5(DLD):c.1236+13A>T
|
|
|
NM_000108.5(DLD):c.1236+16G>A
|
rs2116272359
|
|
NM_000108.5(DLD):c.1236+16G>T
|
|
|
NM_000108.5(DLD):c.1236+19_1236+20insAAAA
|
|
|
NM_000108.5(DLD):c.1236+7C>A
|
|
|
NM_000108.5(DLD):c.1237-13C>G
|
|
|
NM_000108.5(DLD):c.1237-17T>C
|
|
|
NM_000108.5(DLD):c.1237-5C>T
|
|
|
NM_000108.5(DLD):c.1237-7G>A
|
rs765771763
|
|
NM_000108.5(DLD):c.1237-7G>C
|
|
|
NM_000108.5(DLD):c.1245G>A (p.Glu415=)
|
|
|
NM_000108.5(DLD):c.1248C>T (p.Tyr416=)
|
rs773685921
|
|
NM_000108.5(DLD):c.1254T>A (p.Val418=)
|
rs763401114
|
|
NM_000108.5(DLD):c.1254T>C (p.Val418=)
|
rs763401114
|
|
NM_000108.5(DLD):c.1272T>C (p.Ala424=)
|
rs1005430908
|
|
NM_000108.5(DLD):c.1296T>C (p.Asn432=)
|
rs2116274251
|
|
NM_000108.5(DLD):c.1302C>T (p.Asp434=)
|
|
|
NM_000108.5(DLD):c.1320G>A (p.Lys440=)
|
rs2116274362
|
|
NM_000108.5(DLD):c.1323C>T (p.Ile441=)
|
|
|
NM_000108.5(DLD):c.1338G>A (p.Ser446=)
|
rs1323254312
|
|
NM_000108.5(DLD):c.1344C>T (p.Asp448=)
|
|
|
NM_000108.5(DLD):c.1353G>A (p.Leu451=)
|
|
|
NM_000108.5(DLD):c.1359A>G (p.Ala453=)
|
rs1291150689
|
|
NM_000108.5(DLD):c.1374+10G>A
|
rs2116274678
|
|
NM_000108.5(DLD):c.1374+12A>G
|
|
|
NM_000108.5(DLD):c.1374+16C>T
|
|
|
NM_000108.5(DLD):c.1374+17C>T
|
|
|
NM_000108.5(DLD):c.1374+9T>A
|
rs1584473925
|
|
NM_000108.5(DLD):c.1374+9T>G
|
|
|
NM_000108.5(DLD):c.1375-17G>T
|
|
|
NM_000108.5(DLD):c.1377T>A (p.Gly459=)
|
rs2032340474
|
|
NM_000108.5(DLD):c.1416A>G (p.Glu472=)
|
|
|
NM_000108.5(DLD):c.1422A>G (p.Gly474=)
|
|
|
NM_000108.5(DLD):c.1428C>T (p.Ser476=)
|
rs2032344125
|
|
NM_000108.5(DLD):c.1437T>C (p.Asp479=)
|
|
|
NM_000108.5(DLD):c.144T>C (p.Gly48=)
|
rs2116207135
|
|
NM_000108.5(DLD):c.1464+16A>G
|
|
|
NM_000108.5(DLD):c.1464+17T>C
|
rs2116278286
|
|
NM_000108.5(DLD):c.1464+19T>C
|
|
|
NM_000108.5(DLD):c.1465-12C>T
|
|
|
NM_000108.5(DLD):c.1465-16A>T
|
|
|
NM_000108.5(DLD):c.1465-7C>G
|
rs886061908
|
|
NM_000108.5(DLD):c.1465-9C>T
|
rs2032348186
|
|
NM_000108.5(DLD):c.1482T>C (p.Phe494=)
|
rs2032348683
|
|
NM_000108.5(DLD):c.1506A>G (p.Ser502=)
|
rs941059131
|
|
NM_000108.5(DLD):c.1515A>G (p.Lys505=)
|
|
|
NM_000108.5(DLD):c.1527T>C (p.Phe509=)
|
|
|
NM_000108.5(DLD):c.156A>G (p.Gly52=)
|
|
|
NM_000108.5(DLD):c.159A>G (p.Gly53=)
|
|
|
NM_000108.5(DLD):c.168T>C (p.Ala56=)
|
rs2116207243
|
|
NM_000108.5(DLD):c.180T>G (p.Ala60=)
|
rs2116207327
|
|
NM_000108.5(DLD):c.183C>G (p.Ala61=)
|
rs2031882834
|
|
NM_000108.5(DLD):c.183C>T (p.Ala61=)
|
rs2031882834
|
|
NM_000108.5(DLD):c.189A>G (p.Leu63=)
|
|
|
NM_000108.5(DLD):c.18T>C (p.Arg6=)
|
rs2116150112
|
|
NM_000108.5(DLD):c.192C>A (p.Gly64=)
|
rs1222766486
|
|
NM_000108.5(DLD):c.198+10G>C
|
rs777566045
|
|
NM_000108.5(DLD):c.199-10T>C
|
rs2116209763
|
|
NM_000108.5(DLD):c.199-4G>A
|
|
|
NM_000108.5(DLD):c.199-6T>C
|
rs1584462430
|
|
NM_000108.5(DLD):c.204C>T (p.Val68=)
|
rs553951105
|
|
NM_000108.5(DLD):c.228T>C (p.Leu76=)
|
|
|
NM_000108.5(DLD):c.231T>C (p.Gly77=)
|
|
|
NM_000108.5(DLD):c.237A>G (p.Thr79=)
|
|
|
NM_000108.5(DLD):c.267+12T>C
|
|
|
NM_000108.5(DLD):c.267+8T>A
|
|
|
NM_000108.5(DLD):c.267+9G>C
|
rs188936529
|
|
NM_000108.5(DLD):c.268-15T>C
|
|
|
NM_000108.5(DLD):c.268-20A>T
|
|
|
NM_000108.5(DLD):c.268-6C>T
|
|
|
NM_000108.5(DLD):c.273A>G (p.Leu91=)
|
|
|
NM_000108.5(DLD):c.27C>T (p.Cys9=)
|
|
|
NM_000108.5(DLD):c.285T>C (p.Ser95=)
|
rs761564212
|
|
NM_000108.5(DLD):c.297T>C (p.His99=)
|
|
|
NM_000108.5(DLD):c.306T>C (p.His102=)
|
|
|
NM_000108.5(DLD):c.30C>A (p.Ser10=)
|
rs779166996
|
|
NM_000108.5(DLD):c.30C>T (p.Ser10=)
|
rs779166996
|
|
NM_000108.5(DLD):c.337+10C>T
|
rs752671238
|
|
NM_000108.5(DLD):c.337+16A>G
|
|
|
NM_000108.5(DLD):c.337+17T>C
|
|
|
NM_000108.5(DLD):c.337+19C>T
|
rs751168608
|
|
NM_000108.5(DLD):c.338-18del
|
|
|
NM_000108.5(DLD):c.338-4A>C
|
rs2116219347
|
|
NM_000108.5(DLD):c.351C>A (p.Arg117=)
|
rs374988228
|
|
NM_000108.5(DLD):c.351C>G (p.Arg117=)
|
rs374988228
|
|
NM_000108.5(DLD):c.351C>T (p.Arg117=)
|
rs374988228
|
|
NM_000108.5(DLD):c.39+10G>A
|
|
|
NM_000108.5(DLD):c.39+10G>C
|
|
|
NM_000108.5(DLD):c.39+12G>A
|
|
|
NM_000108.5(DLD):c.39+14A>G
|
|
|
NM_000108.5(DLD):c.39+14A>T
|
|
|
NM_000108.5(DLD):c.39+20G>C
|
|
|
NM_000108.5(DLD):c.39+7G>A
|
|
|
NM_000108.5(DLD):c.40-10C>G
|
rs2116162378
|
|
NM_000108.5(DLD):c.40-17A>G
|
|
|
NM_000108.5(DLD):c.40-18G>A
|
|
|
NM_000108.5(DLD):c.40-20G>A
|
rs2031631950
|
|
NM_000108.5(DLD):c.40-4del
|
rs2116162407
|
|
NM_000108.5(DLD):c.421T>C (p.Leu141=)
|
rs2116219899
|
|
NM_000108.5(DLD):c.438+12A>C
|
|
|
NM_000108.5(DLD):c.438+15T>C
|
|
|
NM_000108.5(DLD):c.438+15T>G
|
|
|
NM_000108.5(DLD):c.438+16T>G
|
|
|
NM_000108.5(DLD):c.438+7G>A
|
|
|
NM_000108.5(DLD):c.439-4A>G
|
rs1270309743
|
|
NM_000108.5(DLD):c.439-6G>C
|
rs369208046
|
|
NM_000108.5(DLD):c.439-7_439-6inv
|
|
|
NM_000108.5(DLD):c.444T>G (p.Val148=)
|
rs2116221274
|
|
NM_000108.5(DLD):c.450C>A (p.Val150=)
|
rs2116221334
|
|
NM_000108.5(DLD):c.453T>C (p.Asn151=)
|
|
|
NM_000108.5(DLD):c.462A>G (p.Gly154=)
|
rs2116221430
|
|
NM_000108.5(DLD):c.474C>A (p.Gly158=)
|
rs2116221541
|
|
NM_000108.5(DLD):c.474C>T (p.Gly158=)
|
|
|
NM_000108.5(DLD):c.486C>A (p.Val162=)
|
|
|
NM_000108.5(DLD):c.489T>G (p.Thr163=)
|
|
|
NM_000108.5(DLD):c.48T>C (p.His16=)
|
rs2031632982
|
|
NM_000108.5(DLD):c.507C>A (p.Gly169=)
|
rs144351432
|
|
NM_000108.5(DLD):c.513T>A (p.Thr171=)
|
|
|
NM_000108.5(DLD):c.516G>A (p.Gln172=)
|
rs777748761
|
|
NM_000108.5(DLD):c.552T>C (p.Gly184=)
|
|
|
NM_000108.5(DLD):c.582+11T>G
|
|
|
NM_000108.5(DLD):c.582+13C>A
|
|
|
NM_000108.5(DLD):c.582+16A>G
|
|
|
NM_000108.5(DLD):c.582+16_582+17insC
|
|
|
NM_000108.5(DLD):c.582+18T>C
|
|
|
NM_000108.5(DLD):c.582+18T>G
|
|
|
NM_000108.5(DLD):c.582+19T>G
|
|
|
NM_000108.5(DLD):c.582+7A>G
|
|
|
NM_000108.5(DLD):c.582+7A>T
|
|
|
NM_000108.5(DLD):c.583-15_583-14del
|
|
|
NM_000108.5(DLD):c.583-8T>A
|
|
|
NM_000108.5(DLD):c.585A>T (p.Ile195=)
|
|
|
NM_000108.5(DLD):c.597A>G (p.Thr199=)
|
rs768248572
|
|
NM_000108.5(DLD):c.615T>A (p.Gly205=)
|
|
|
NM_000108.5(DLD):c.627A>G (p.Leu209=)
|
|
|
NM_000108.5(DLD):c.630A>G (p.Lys210=)
|
|
|
NM_000108.5(DLD):c.636T>A (p.Val212=)
|
rs2116225767
|
|
NM_000108.5(DLD):c.654T>C (p.Val218=)
|
rs1584465590
|
|
NM_000108.5(DLD):c.660T>C (p.Gly220=)
|
rs2116225941
|
|
NM_000108.5(DLD):c.663A>G (p.Ala221=)
|
|
|
NM_000108.5(DLD):c.666A>G (p.Gly222=)
|
rs2116225961
|
|
NM_000108.5(DLD):c.66T>C (p.His22=)
|
rs2116162670
|
|
NM_000108.5(DLD):c.684+11T>A
|
|
|
NM_000108.5(DLD):c.684+20C>T
|
|
|
NM_000108.5(DLD):c.685-14T>C
|
|
|
NM_000108.5(DLD):c.685-17_685-14del
|
|
|
NM_000108.5(DLD):c.685-18T>G
|
|
|
NM_000108.5(DLD):c.685-19T>C
|
|
|
NM_000108.5(DLD):c.685-20T>C
|
|
|
NM_000108.5(DLD):c.685-4G>A
|
rs1584471861
|
|
NM_000108.5(DLD):c.685-4G>T
|
rs1584471861
|
|
NM_000108.5(DLD):c.685-8_685-5del
|
rs2032245429
|
|
NM_000108.5(DLD):c.685-9_685-5del
|
|
|
NM_000108.5(DLD):c.699A>G (p.Gln233=)
|
rs1418720698
|
|
NM_000108.5(DLD):c.69C>T (p.Gly23=)
|
|
|
NM_000108.5(DLD):c.6G>A (p.Gln2=)
|
rs559880901
|
|
NM_000108.5(DLD):c.700A>C (p.Arg234=)
|
|
|
NM_000108.5(DLD):c.70C>T (p.Leu24=)
|
rs369442554
|
|
NM_000108.5(DLD):c.720A>G (p.Thr240=)
|
|
|
NM_000108.5(DLD):c.723A>G (p.Ala241=)
|
rs751488296
|
|
NM_000108.5(DLD):c.729A>G (p.Glu243=)
|
rs2032247071
|
|
NM_000108.5(DLD):c.72A>G (p.Leu24=)
|
rs769445579
|
|
NM_000108.5(DLD):c.744A>G (p.Val248=)
|
|
|
NM_000108.5(DLD):c.789C>T (p.Arg263=)
|
|
|
NM_000108.5(DLD):c.807G>A (p.Gly269=)
|
|
|
NM_000108.5(DLD):c.828A>G (p.Thr276=)
|
rs2032250540
|
|
NM_000108.5(DLD):c.834T>C (p.Val278=)
|
rs1258445963
|
|
NM_000108.5(DLD):c.840T>A (p.Gly280=)
|
rs2116264411
|
|
NM_000108.5(DLD):c.84T>A (p.Ser28=)
|
|
|
NM_000108.5(DLD):c.84T>C (p.Ser28=)
|
|
|
NM_000108.5(DLD):c.870T>C (p.Asp290=)
|
|
|
NM_000108.5(DLD):c.873T>C (p.Val291=)
|
|
|
NM_000108.5(DLD):c.875+11A>G
|
|
|
NM_000108.5(DLD):c.875+13C>A
|
|
|
NM_000108.5(DLD):c.875+14A>G
|
|
|
NM_000108.5(DLD):c.875+20T>C
|
|
|
NM_000108.5(DLD):c.875+9A>G
|
|
|
NM_000108.5(DLD):c.876-14T>C
|
|
|
NM_000108.5(DLD):c.876-19T>C
|
|
|
NM_000108.5(DLD):c.876-5T>A
|
|
|
NM_000108.5(DLD):c.876-6A>C
|
|
|
NM_000108.5(DLD):c.876-6A>G
|
rs199944006
|
|
NM_000108.5(DLD):c.879T>C (p.Ile293=)
|
rs2116269476
|
|
NM_000108.5(DLD):c.888T>C (p.Ala296=)
|
rs2032281375
|
|
NM_000108.5(DLD):c.897T>C (p.Gly299=)
|
rs2116269619
|
|
NM_000108.5(DLD):c.906A>G (p.Glu302=)
|
rs2116269710
|
|
NM_000108.5(DLD):c.911T>C (p.Ile304Thr)
|
|
|
NM_000108.5(DLD):c.918T>C (p.Cys306=)
|
rs1433041129
|
|
NM_000108.5(DLD):c.924A>C (p.Val308=)
|
|
|
NM_000108.5(DLD):c.924A>G (p.Val308=)
|
|
|
NM_000108.5(DLD):c.93T>C (p.Pro31=)
|
rs1182818821
|
|
NM_000108.5(DLD):c.94C>T (p.Leu32=)
|
rs1241052092
|
|
NM_000108.5(DLD):c.954T>C (p.Phe318=)
|
rs2116270132
|
|
NM_000108.5(DLD):c.978G>A (p.Glu326=)
|
|
|
NM_000108.5(DLD):c.999C>G (p.Pro333=)
|
|
|
NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)
|
|
|
NM_000116.5(TAFAZZIN):c.109+15G>A
|
|
|
NM_000116.5(TAFAZZIN):c.109+15del
|
|
|
NM_000116.5(TAFAZZIN):c.109+20G>A
|
|
|
NM_000116.5(TAFAZZIN):c.109+8G>A
|
rs2068315794
|
|
NM_000116.5(TAFAZZIN):c.110-15C>G
|
|
|
NM_000116.5(TAFAZZIN):c.110-19A>C
|
|
|
NM_000116.5(TAFAZZIN):c.110-20G>T
|
|
|
NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=)
|
|
|
NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=)
|
|
|
NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=)
|
|
|
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)
|
|
|
NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=)
|
|
|
NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=)
|
|
|
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=)
|
rs1557191148
|
|
NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=)
|
|
|
NM_000116.5(TAFAZZIN):c.238+10C>A
|
|
|
NM_000116.5(TAFAZZIN):c.238+7G>A
|
|
|
NM_000116.5(TAFAZZIN):c.238+9G>C
|
|
|
NM_000116.5(TAFAZZIN):c.239-11C>T
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>G
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>T
|
|
|
NM_000116.5(TAFAZZIN):c.239-18G>A
|
|
|
NM_000116.5(TAFAZZIN):c.239-19A>G
|
|
|
NM_000116.5(TAFAZZIN):c.239-6C>T
|
|
|
NM_000116.5(TAFAZZIN):c.239-6del
|
rs1064794479
|
|
NM_000116.5(TAFAZZIN):c.239-7C>T
|
rs2148190472
|
|
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)
|
|
|
NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)
|
|
|
NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)
|
|
|
NM_000116.5(TAFAZZIN):c.258C>T (p.His86=)
|
|
|
NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)
|
|
|
NM_000116.5(TAFAZZIN):c.273G>A (p.Lys91=)
|
|
|
NM_000116.5(TAFAZZIN):c.284+17C>T
|
|
|
NM_000116.5(TAFAZZIN):c.284+8_284+10del
|
|
|
NM_000116.5(TAFAZZIN):c.285-14C>T
|
|
|
NM_000116.5(TAFAZZIN):c.285-5C>T
|
|
|
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=)
|
rs2148191873
|
|
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)
|
|
|
NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=)
|
|
|
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=)
|
rs1569552726
|
|
NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=)
|
|
|
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)
|
|
|
NM_000116.5(TAFAZZIN):c.370+11C>T
|
|
|
NM_000116.5(TAFAZZIN):c.370+12del
|
|
|
NM_000116.5(TAFAZZIN):c.370+16A>G
|
|
|
NM_000116.5(TAFAZZIN):c.370+18C>T
|
|
|
NM_000116.5(TAFAZZIN):c.370+19G>A
|
|
|
NM_000116.5(TAFAZZIN):c.371-13C>G
|
rs397515742
|
|
NM_000116.5(TAFAZZIN):c.371-17T>C
|
|
|
NM_000116.5(TAFAZZIN):c.371-19A>T
|
|
|
NM_000116.5(TAFAZZIN):c.371-4G>A
|
|
|
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=)
|
|
|
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)
|
|
|
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>A
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>T
|
|
|
NM_000116.5(TAFAZZIN):c.460+17G>A
|
|
|
NM_000116.5(TAFAZZIN):c.461-13C>A
|
|
|
NM_000116.5(TAFAZZIN):c.461-14C>A
|
|
|
NM_000116.5(TAFAZZIN):c.461-15G>A
|
|
|
NM_000116.5(TAFAZZIN):c.461-18G>A
|
|
|
NM_000116.5(TAFAZZIN):c.461-19A>G
|
|
|
NM_000116.5(TAFAZZIN):c.461-22_461-14del
|
|
|
NM_000116.5(TAFAZZIN):c.461-7C>T
|
|
|
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=)
|
rs2148210856
|
|
NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=)
|
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=)
|
|
|
NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)
|
|
|
NM_000116.5(TAFAZZIN):c.541+10G>A
|
rs1396794207
|
|
NM_000116.5(TAFAZZIN):c.541+13G>A
|
|
|
NM_000116.5(TAFAZZIN):c.541+20_541+40dup
|
|
|
NM_000116.5(TAFAZZIN):c.541+8G>A
|
|
|
NM_000116.5(TAFAZZIN):c.542-6C>T
|
|
|
NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=)
|
|
|
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=)
|
rs36005334
|
|
NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=)
|
|
|
NM_000116.5(TAFAZZIN):c.584-11C>A
|
|
|
NM_000116.5(TAFAZZIN):c.584-15C>G
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>A
|
rs2068583124
|
|
NM_000116.5(TAFAZZIN):c.584-9C>G
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>T
|
|
|
NM_000116.5(TAFAZZIN):c.588C>T (p.Ile196=)
|
|
|
NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=)
|
rs797040235
|
|
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=)
|
rs797040235
|
|
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=)
|
rs797040235
|
|
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=)
|
rs782162647
|
|
NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=)
|
|
|
NM_000116.5(TAFAZZIN):c.642T>C (p.His214=)
|
|
|
NM_000116.5(TAFAZZIN):c.646+12G>A
|
|
|
NM_000116.5(TAFAZZIN):c.646+13A>T
|
|
|
NM_000116.5(TAFAZZIN):c.646+15G>A
|
|
|
NM_000116.5(TAFAZZIN):c.646+18G>A
|
|
|
NM_000116.5(TAFAZZIN):c.646+20C>G
|
|
|
NM_000116.5(TAFAZZIN):c.646+7C>T
|
|
|
NM_000116.5(TAFAZZIN):c.646+8T>C
|
|
|
NM_000116.5(TAFAZZIN):c.647-14C>G
|
|
|
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=)
|
rs1603381820
|
|
NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=)
|
|
|
NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=)
|
|
|
NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=)
|
|
|
NM_000116.5(TAFAZZIN):c.699+15C>T
|
|
|
NM_000116.5(TAFAZZIN):c.699+17G>A
|
|
|
NM_000116.5(TAFAZZIN):c.699+19C>T
|
|
|
NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=)
|
|
|
NM_000116.5(TAFAZZIN):c.700-14C>T
|
|
|
NM_000116.5(TAFAZZIN):c.700-19C>G
|
|
|
NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=)
|
|
|
NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)
|
|
|
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=)
|
rs2148214484
|
|
NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)
|
|
|
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=)
|
rs376379156
|
|
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=)
|
rs376379156
|
|
NM_000116.5(TAFAZZIN):c.759G>A (p.Arg253=)
|
|
|
NM_000116.5(TAFAZZIN):c.777+19C>T
|
|
|
NM_000116.5(TAFAZZIN):c.777+20C>T
|
|
|
NM_000116.5(TAFAZZIN):c.778-6C>A
|
|
|
NM_000116.5(TAFAZZIN):c.778-8del
|
|
|
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)
|
|
|
NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=)
|
|
|
NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=)
|
|
|
NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=)
|
|
|
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=)
|
rs1603382441
|
|
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)
|
|
|
NM_000126.4(ETFA):c.120C>T (p.Thr40=)
|
|
|
NM_000126.4(ETFA):c.126T>G (p.Thr42=)
|
|
|
NM_000126.4(ETFA):c.141T>G (p.Leu47=)
|
rs2141543772
|
|
NM_000126.4(ETFA):c.153G>A (p.Val51=)
|
rs2039810189
|
|
NM_000126.4(ETFA):c.156C>T (p.Ser52=)
|
rs2141543739
|
|
NM_000126.4(ETFA):c.15G>A (p.Ala5=)
|
rs1253564653
|
|
NM_000126.4(ETFA):c.165A>G (p.Val55=)
|
rs2039810025
|
|
NM_000126.4(ETFA):c.183C>T (p.Asp61=)
|
rs2141543697
|
|
NM_000126.4(ETFA):c.186+7A>C
|
|
|
NM_000126.4(ETFA):c.186+8A>T
|
|
|
NM_000126.4(ETFA):c.186+9T>A
|
rs1596224309
|
|
NM_000126.4(ETFA):c.186+9T>C
|
rs1596224309
|
|
NM_000126.4(ETFA):c.187-13C>A
|
|
|
NM_000126.4(ETFA):c.187-14T>C
|
|
|
NM_000126.4(ETFA):c.187-17T>G
|
|
|
NM_000126.4(ETFA):c.187-18C>T
|
|
|
NM_000126.4(ETFA):c.189G>A (p.Val63=)
|
rs1179483198
|
|
NM_000126.4(ETFA):c.201C>G (p.Leu67=)
|
rs1250916782
|
|
NM_000126.4(ETFA):c.210A>G (p.Val70=)
|
rs1274661227
|
|
NM_000126.4(ETFA):c.210A>T (p.Val70=)
|
|
|
NM_000126.4(ETFA):c.213A>G (p.Ala71=)
|
|
|
NM_000126.4(ETFA):c.21G>A (p.Pro7=)
|
rs903002200
|
|
NM_000126.4(ETFA):c.222A>G (p.Ala74=)
|
rs2141540424
|
|
NM_000126.4(ETFA):c.228T>C (p.Val76=)
|
rs1277270558
|
|
NM_000126.4(ETFA):c.240G>A (p.Gln80=)
|
rs2141540395
|
|
NM_000126.4(ETFA):c.24G>A (p.Gly8=)
|
rs2141564548
|
|
NM_000126.4(ETFA):c.24G>C (p.Gly8=)
|
rs2141564548
|
|
NM_000126.4(ETFA):c.261A>G (p.Leu87=)
|
|
|
NM_000126.4(ETFA):c.264T>G (p.Leu88=)
|
rs1405829462
|
|
NM_000126.4(ETFA):c.268+11C>G
|
|
|
NM_000126.4(ETFA):c.268+12C>T
|
|
|
NM_000126.4(ETFA):c.268+14G>A
|
|
|
NM_000126.4(ETFA):c.268+15T>C
|
|
|
NM_000126.4(ETFA):c.268+18A>G
|
rs757775846
|
|
NM_000126.4(ETFA):c.269-15G>T
|
|
|
NM_000126.4(ETFA):c.269-19A>G
|
|
|
NM_000126.4(ETFA):c.269-5C>A
|
|
|
NM_000126.4(ETFA):c.282A>G (p.Pro94=)
|
|
|
NM_000126.4(ETFA):c.288T>C (p.Ile96=)
|
|
|
NM_000126.4(ETFA):c.294A>C (p.Ala98=)
|
rs1458002715
|
|
NM_000126.4(ETFA):c.297T>C (p.Thr99=)
|
rs2141540022
|
|
NM_000126.4(ETFA):c.297T>G (p.Thr99=)
|
|
|
NM_000126.4(ETFA):c.303G>A (p.Lys101=)
|
|
|
NM_000126.4(ETFA):c.30C>G (p.Leu10=)
|
rs1042921735
|
|
NM_000126.4(ETFA):c.324C>A (p.Ile108=)
|
rs753701756
|
|
NM_000126.4(ETFA):c.33G>C (p.Arg11=)
|
|
|
NM_000126.4(ETFA):c.348A>G (p.Gly116=)
|
rs2141539896
|
|
NM_000126.4(ETFA):c.351+12G>A
|
rs2039773989
|
|
NM_000126.4(ETFA):c.351+18G>A
|
|
|
NM_000126.4(ETFA):c.351+20G>A
|
|
|
NM_000126.4(ETFA):c.351+8G>C
|
rs374723922
|
|
NM_000126.4(ETFA):c.351+9G>A
|
rs2039774067
|
|
NM_000126.4(ETFA):c.352-16C>G
|
|
|
NM_000126.4(ETFA):c.352-19C>T
|
|
|
NM_000126.4(ETFA):c.352-7C>T
|
|
|
NM_000126.4(ETFA):c.358T>C (p.Leu120=)
|
rs2141533653
|
|
NM_000126.4(ETFA):c.363C>T (p.Pro121=)
|
|
|
NM_000126.4(ETFA):c.366A>G (p.Arg122=)
|
rs2039718120
|
|
NM_000126.4(ETFA):c.369A>T (p.Val123=)
|
|
|
NM_000126.4(ETFA):c.36G>A (p.Arg12=)
|
rs1299355915
|
|
NM_000126.4(ETFA):c.372A>C (p.Ala124=)
|
|
|
NM_000126.4(ETFA):c.384G>A (p.Glu128=)
|
|
|
NM_000126.4(ETFA):c.39+11A>C
|
|
|
NM_000126.4(ETFA):c.39+14G>T
|
|
|
NM_000126.4(ETFA):c.39+17A>G
|
|
|
NM_000126.4(ETFA):c.39+18del
|
|
|
NM_000126.4(ETFA):c.39+19G>A
|
|
|
NM_000126.4(ETFA):c.39+7C>T
|
|
|
NM_000126.4(ETFA):c.39+8C>G
|
|
|
NM_000126.4(ETFA):c.39+9G>A
|
rs2039995773
|
|
NM_000126.4(ETFA):c.39+9G>C
|
|
|
NM_000126.4(ETFA):c.390C>T (p.Ala130=)
|
|
|
NM_000126.4(ETFA):c.40-10C>T
|
rs546196896
|
|
NM_000126.4(ETFA):c.40-16T>G
|
rs1402206099
|
|
NM_000126.4(ETFA):c.40-17C>A
|
|
|
NM_000126.4(ETFA):c.40-17_40-8del
|
|
|
NM_000126.4(ETFA):c.40-19T>C
|
|
|
NM_000126.4(ETFA):c.40-21_40-18dup
|
|
|
NM_000126.4(ETFA):c.40-21_40-19dup
|
|
|
NM_000126.4(ETFA):c.40-8C>T
|
rs1380119459
|
|
NM_000126.4(ETFA):c.423T>C (p.Pro141=)
|
rs2141533520
|
|
NM_000126.4(ETFA):c.426C>T (p.Asp142=)
|
|
|
NM_000126.4(ETFA):c.429A>C (p.Thr143=)
|
rs2141533504
|
|
NM_000126.4(ETFA):c.429A>G (p.Thr143=)
|
|
|
NM_000126.4(ETFA):c.435G>A (p.Val145=)
|
rs2141533487
|
|
NM_000126.4(ETFA):c.438A>G (p.Arg146=)
|
|
|
NM_000126.4(ETFA):c.441T>A (p.Thr147=)
|
rs2141533484
|
|
NM_000126.4(ETFA):c.451+11A>C
|
|
|
NM_000126.4(ETFA):c.451+12A>G
|
|
|
NM_000126.4(ETFA):c.451+14_451+17del
|
rs2039716961
|
|
NM_000126.4(ETFA):c.451+15A>G
|
|
|
NM_000126.4(ETFA):c.451+17G>T
|
|
|
NM_000126.4(ETFA):c.451+19T>C
|
rs1301022193
|
|
NM_000126.4(ETFA):c.452-13T>A
|
|
|
NM_000126.4(ETFA):c.452-17T>C
|
|
|
NM_000126.4(ETFA):c.452-7G>A
|
|
|
NM_000126.4(ETFA):c.452-7G>T
|
|
|
NM_000126.4(ETFA):c.452-9A>G
|
|
|
NM_000126.4(ETFA):c.456T>C (p.Asn152=)
|
rs2141531775
|
|
NM_000126.4(ETFA):c.462A>C (p.Leu154=)
|
rs2039705956
|
|
NM_000126.4(ETFA):c.462A>G (p.Leu154=)
|
|
|
NM_000126.4(ETFA):c.468A>C (p.Thr156=)
|
rs775043427
|
|
NM_000126.4(ETFA):c.471G>A (p.Val157=)
|
|
|
NM_000126.4(ETFA):c.495G>A (p.Val165=)
|
|
|
NM_000126.4(ETFA):c.513A>G (p.Thr171=)
|
|
|
NM_000126.4(ETFA):c.51A>G (p.Leu17=)
|
|
|
NM_000126.4(ETFA):c.540C>G (p.Gly180=)
|
rs146133196
|
|
NM_000126.4(ETFA):c.540C>T (p.Gly180=)
|
rs146133196
|
|
NM_000126.4(ETFA):c.549C>T (p.Ala183=)
|
|
|
NM_000126.4(ETFA):c.54A>G (p.Arg18=)
|
rs2141543902
|
|
NM_000126.4(ETFA):c.558A>G (p.Glu186=)
|
rs2141531548
|
|
NM_000126.4(ETFA):c.562+10C>G
|
|
|
NM_000126.4(ETFA):c.562+11A>G
|
|
|
NM_000126.4(ETFA):c.562+13T>G
|
|
|
NM_000126.4(ETFA):c.562+15G>C
|
|
|
NM_000126.4(ETFA):c.562+16G>T
|
rs2141531505
|
|
NM_000126.4(ETFA):c.562+18G>T
|
|
|
NM_000126.4(ETFA):c.562+8T>C
|
|
|
NM_000126.4(ETFA):c.562+8T>G
|
|
|
NM_000126.4(ETFA):c.563-11A>T
|
|
|
NM_000126.4(ETFA):c.563-4G>A
|
|
|
NM_000126.4(ETFA):c.563-5T>C
|
rs2141530823
|
|
NM_000126.4(ETFA):c.563-6A>G
|
rs2141530825
|
|
NM_000126.4(ETFA):c.563-8G>A
|
rs777484688
|
|
NM_000126.4(ETFA):c.563-9T>C
|
|
|
NM_000126.4(ETFA):c.579A>G (p.Pro193=)
|
rs936157234
|
|
NM_000126.4(ETFA):c.591A>C (p.Ser197=)
|
rs1327483238
|
|
NM_000126.4(ETFA):c.594G>A (p.Glu198=)
|
|
|
NM_000126.4(ETFA):c.603C>T (p.Asp201=)
|
|
|
NM_000126.4(ETFA):c.630A>G (p.Pro210=)
|
|
|
NM_000126.4(ETFA):c.657A>G (p.Val219=)
|
|
|
NM_000126.4(ETFA):c.660T>C (p.Ser220=)
|
|
|
NM_000126.4(ETFA):c.664+16A>C
|
|
|
NM_000126.4(ETFA):c.664+20T>C
|
|
|
NM_000126.4(ETFA):c.664+8A>T
|
|
|
NM_000126.4(ETFA):c.665-12T>A
|
|
|
NM_000126.4(ETFA):c.665-13C>G
|
|
|
NM_000126.4(ETFA):c.665-14T>C
|
|
|
NM_000126.4(ETFA):c.665-15A>G
|
|
|
NM_000126.4(ETFA):c.665-16dup
|
|
|
NM_000126.4(ETFA):c.665-17T>C
|
|
|
NM_000126.4(ETFA):c.665-18T>C
|
|
|
NM_000126.4(ETFA):c.665-4T>C
|
|
|
NM_000126.4(ETFA):c.667C>A (p.Arg223=)
|
rs769976586
|
|
NM_000126.4(ETFA):c.66C>T (p.Thr22=)
|
rs370375322
|
|
NM_000126.4(ETFA):c.687G>A (p.Glu229=)
|
|
|
NM_000126.4(ETFA):c.696G>A (p.Lys232=)
|
|
|
NM_000126.4(ETFA):c.69G>A (p.Leu23=)
|
|
|
NM_000126.4(ETFA):c.700T>C (p.Leu234=)
|
|
|
NM_000126.4(ETFA):c.702A>G (p.Leu234=)
|
rs775620228
|
|
NM_000126.4(ETFA):c.721C>T (p.Leu241=)
|
|
|
NM_000126.4(ETFA):c.723A>G (p.Leu241=)
|
rs2141528126
|
|
NM_000126.4(ETFA):c.733+10T>C
|
rs1298665818
|
|
NM_000126.4(ETFA):c.733+16T>A
|
|
|
NM_000126.4(ETFA):c.733+18A>C
|
|
|
NM_000126.4(ETFA):c.733+8T>A
|
|
|
NM_000126.4(ETFA):c.733+8T>C
|
|
|
NM_000126.4(ETFA):c.733+9A>G
|
|
|
NM_000126.4(ETFA):c.734-10T>C
|
rs2141516395
|
|
NM_000126.4(ETFA):c.734-17A>G
|
|
|
NM_000126.4(ETFA):c.734-8C>T
|
|
|
NM_000126.4(ETFA):c.750T>C (p.Ala250=)
|
|
|
NM_000126.4(ETFA):c.765C>A (p.Gly255=)
|
rs2141516311
|
|
NM_000126.4(ETFA):c.780C>T (p.Asp260=)
|
|
|
NM_000126.4(ETFA):c.786A>G (p.Gln262=)
|
|
|
NM_000126.4(ETFA):c.798G>A (p.Thr266=)
|
rs764478797
|
|
NM_000126.4(ETFA):c.810A>G (p.Val270=)
|
|
|
NM_000126.4(ETFA):c.813A>C (p.Ala271=)
|
rs2141516230
|
|
NM_000126.4(ETFA):c.816+13A>G
|
|
|
NM_000126.4(ETFA):c.816+9T>A
|
rs2141516215
|
|
NM_000126.4(ETFA):c.817-12_817-11del
|
|
|
NM_000126.4(ETFA):c.817-16A>G
|
rs1176510084
|
|
NM_000126.4(ETFA):c.817-5T>A
|
|
|
NM_000126.4(ETFA):c.817-7A>G
|
|
|
NM_000126.4(ETFA):c.817-8T>G
|
|
|
NM_000126.4(ETFA):c.819A>G (p.Glu273=)
|
|
|
NM_000126.4(ETFA):c.81G>A (p.Glu27=)
|
|
|
NM_000126.4(ETFA):c.822T>A (p.Leu274=)
|
rs2141463797
|
|
NM_000126.4(ETFA):c.822T>C (p.Leu274=)
|
rs2141463797
|
|
NM_000126.4(ETFA):c.837A>C (p.Gly279=)
|
rs772717284
|
|
NM_000126.4(ETFA):c.837A>G (p.Gly279=)
|
rs772717284
|
|
NM_000126.4(ETFA):c.84T>C (p.His28=)
|
|
|
NM_000126.4(ETFA):c.864T>G (p.Ala288=)
|
|
|
NM_000126.4(ETFA):c.867G>A (p.Gly289=)
|
|
|
NM_000126.4(ETFA):c.882+10C>T
|
rs2039064081
|
|
NM_000126.4(ETFA):c.882+14A>T
|
|
|
NM_000126.4(ETFA):c.882+15G>A
|
|
|
NM_000126.4(ETFA):c.882+7G>A
|
rs753882653
|
|
NM_000126.4(ETFA):c.882+7G>C
|
rs753882653
|
|
NM_000126.4(ETFA):c.882+7G>T
|
rs753882653
|
|
NM_000126.4(ETFA):c.883-17_883-16del
|
|
|
NM_000126.4(ETFA):c.883-18T>C
|
|
|
NM_000126.4(ETFA):c.883-18T>G
|
|
|
NM_000126.4(ETFA):c.883-4A>G
|
rs2142108087
|
|
NM_000126.4(ETFA):c.883-5C>T
|
|
|
NM_000126.4(ETFA):c.883-6T>C
|
rs2142108091
|
|
NM_000126.4(ETFA):c.883-9A>G
|
rs773894937
|
|
NM_000126.4(ETFA):c.883-9dup
|
rs2142108094
|
|
NM_000126.4(ETFA):c.891G>C (p.Val297=)
|
rs2142108075
|
|
NM_000126.4(ETFA):c.909A>G (p.Pro303=)
|
rs2142108061
|
|
NM_000126.4(ETFA):c.927A>G (p.Gln309=)
|
|
|
NM_000126.4(ETFA):c.939T>C (p.Tyr313=)
|
|
|
NM_000126.4(ETFA):c.942A>C (p.Gly314=)
|
rs1253828046
|
|
NM_000126.4(ETFA):c.945A>C (p.Ile315=)
|
rs2142108038
|
|
NM_000126.4(ETFA):c.955T>C (p.Leu319=)
|
|
|
NM_000126.4(ETFA):c.960T>C (p.Phe320=)
|
|
|
NM_000126.4(ETFA):c.963+14G>A
|
|
|
NM_000126.4(ETFA):c.963+14G>C
|
rs1369553684
|
|
NM_000126.4(ETFA):c.963+17A>G
|
|
|
NM_000126.4(ETFA):c.963+8G>A
|
|
|
NM_000126.4(ETFA):c.963+9del
|
rs2038998662
|
|
NM_000126.4(ETFA):c.964-10T>C
|
rs1223890959
|
|
NM_000126.4(ETFA):c.964-18T>G
|
|
|
NM_000126.4(ETFA):c.964-20C>T
|
|
|
NM_000126.4(ETFA):c.964-4G>T
|
|
|
NM_000126.4(ETFA):c.972T>C (p.Pro324=)
|
rs1351662991
|
|
NM_000126.4(ETFA):c.99A>G (p.Leu33=)
|
|
|
NM_000137.4(FAH):c.1018C>T (p.Leu340=)
|
|
|
NM_000137.4(FAH):c.1029G>T (p.Gly343=)
|
|
|
NM_000137.4(FAH):c.102G>A (p.Val34=)
|
|
|
NM_000137.4(FAH):c.1036C>T (p.Leu346=)
|
|
|
NM_000137.4(FAH):c.1044T>C (p.Ser348=)
|
rs2142107851
|
|
NM_000137.4(FAH):c.1059G>A (p.Gly353=)
|
|
|
NM_000137.4(FAH):c.1062+11G>C
|
|
|
NM_000137.4(FAH):c.1062+15G>C
|
|
|
NM_000137.4(FAH):c.1062+16C>T
|
|
|
NM_000137.4(FAH):c.1062+18C>T
|
|
|
NM_000137.4(FAH):c.1063-10T>C
|
|
|
NM_000137.4(FAH):c.1063-12C>T
|
|
|
NM_000137.4(FAH):c.1063-18C>T
|
|
|
NM_000137.4(FAH):c.1063-9G>T
|
rs866653704
|
|
NM_000137.4(FAH):c.1068A>C (p.Pro356=)
|
rs2142108569
|
|
NM_000137.4(FAH):c.1068A>G (p.Pro356=)
|
rs2142108569
|
|
NM_000137.4(FAH):c.1080C>T (p.Gly360=)
|
|
|
NM_000137.4(FAH):c.1087T>C (p.Leu363=)
|
|
|
NM_000137.4(FAH):c.1098G>T (p.Ser366=)
|
|
|
NM_000137.4(FAH):c.1134T>G (p.Gly378=)
|
|
|
NM_000137.4(FAH):c.1140C>T (p.Thr380=)
|
rs2142108657
|
|
NM_000137.4(FAH):c.1146G>A (p.Lys382=)
|
rs2142108665
|
|
NM_000137.4(FAH):c.1152G>T (p.Leu384=)
|
rs886051497
|
|
NM_000137.4(FAH):c.1161G>A (p.Gly387=)
|
rs2142108682
|
|
NM_000137.4(FAH):c.1164T>C (p.Asp388=)
|
|
|
NM_000137.4(FAH):c.1180+10G>T
|
|
|
NM_000137.4(FAH):c.1180+18C>G
|
|
|
NM_000137.4(FAH):c.1180+7G>T
|
|
|
NM_000137.4(FAH):c.1180+9T>G
|
|
|
NM_000137.4(FAH):c.1181-10T>C
|
|
|
NM_000137.4(FAH):c.1181-18T>G
|
|
|
NM_000137.4(FAH):c.1181-7G>A
|
rs750983382
|
|
NM_000137.4(FAH):c.1181-9C>G
|
rs2142112575
|
|
NM_000137.4(FAH):c.1182G>A (p.Gly394=)
|
rs2142112592
|
|
NM_000137.4(FAH):c.1182G>C (p.Gly394=)
|
|
|
NM_000137.4(FAH):c.1185C>T (p.Tyr395=)
|
rs2142112598
|
|
NM_000137.4(FAH):c.1206C>T (p.Arg402=)
|
rs2142112638
|
|
NM_000137.4(FAH):c.1209C>A (p.Ile403=)
|
|
|
NM_000137.4(FAH):c.120C>T (p.Ile40=)
|
|
|
NM_000137.4(FAH):c.1221G>A (p.Gln407=)
|
|
|
NM_000137.4(FAH):c.1239G>T (p.Leu413=)
|
rs2142112674
|
|
NM_000137.4(FAH):c.1245T>G (p.Ala415=)
|
rs2142112683
|
|
NM_000137.4(FAH):c.129C>G (p.Leu43=)
|
|
|
NM_000137.4(FAH):c.129C>T (p.Leu43=)
|
|
|
NM_000137.4(FAH):c.132C>T (p.Ser44=)
|
|
|
NM_000137.4(FAH):c.138C>T (p.Ile46=)
|
rs2142090778
|
|
NM_000137.4(FAH):c.147C>G (p.Leu49=)
|
rs886051496
|
|
NM_000137.4(FAH):c.15G>A (p.Pro5=)
|
|
|
NM_000137.4(FAH):c.162C>T (p.Val54=)
|
|
|
NM_000137.4(FAH):c.165C>G (p.Leu55=)
|
|
|
NM_000137.4(FAH):c.189T>C (p.Asn63=)
|
|
|
NM_000137.4(FAH):c.192+10T>C
|
rs2142090839
|
|
NM_000137.4(FAH):c.192+13G>T
|
|
|
NM_000137.4(FAH):c.192+17C>T
|
|
|
NM_000137.4(FAH):c.192+19A>C
|
|
|
NM_000137.4(FAH):c.192+9T>C
|
rs1386784352
|
|
NM_000137.4(FAH):c.193-15_193-14del
|
|
|
NM_000137.4(FAH):c.193-8G>T
|
rs2142091970
|
|
NM_000137.4(FAH):c.201C>T (p.Leu67=)
|
rs779516322
|
|
NM_000137.4(FAH):c.207C>T (p.Ser69=)
|
|
|
NM_000137.4(FAH):c.210C>T (p.Phe70=)
|
rs2142091985
|
|
NM_000137.4(FAH):c.21C>T (p.Ala7=)
|
|
|
NM_000137.4(FAH):c.249G>A (p.Val83=)
|
rs370095143
|
|
NM_000137.4(FAH):c.252C>T (p.Phe84=)
|
rs2041132568
|
|
NM_000137.4(FAH):c.253T>C (p.Leu85=)
|
rs2142092035
|
|
NM_000137.4(FAH):c.258G>A (p.Gln86=)
|
|
|
NM_000137.4(FAH):c.294T>C (p.Asp98=)
|
rs1413778856
|
|
NM_000137.4(FAH):c.297C>T (p.Asp99=)
|
rs1595890511
|
|
NM_000137.4(FAH):c.306T>C (p.Leu102=)
|
rs2041133609
|
|
NM_000137.4(FAH):c.307C>A (p.Arg103=)
|
|
|
NM_000137.4(FAH):c.309G>A (p.Arg103=)
|
rs771117713
|
|
NM_000137.4(FAH):c.30C>T (p.Ser10=)
|
rs1051057226
|
|
NM_000137.4(FAH):c.312G>A (p.Lys104=)
|
rs1203041732
|
|
NM_000137.4(FAH):c.314+11C>G
|
|
|
NM_000137.4(FAH):c.314+11C>T
|
|
|
NM_000137.4(FAH):c.314+12G>A
|
|
|
NM_000137.4(FAH):c.314+12G>T
|
|
|
NM_000137.4(FAH):c.314+14G>T
|
|
|
NM_000137.4(FAH):c.314+18A>C
|
|
|
NM_000137.4(FAH):c.314+18A>T
|
|
|
NM_000137.4(FAH):c.314+20del
|
|
|
NM_000137.4(FAH):c.315-11C>T
|
|
|
NM_000137.4(FAH):c.315-12T>C
|
|
|
NM_000137.4(FAH):c.315-12T>G
|
|
|
NM_000137.4(FAH):c.315-13T>A
|
|
|
NM_000137.4(FAH):c.315-7G>A
|
|
|
NM_000137.4(FAH):c.315-9G>C
|
|
|
NM_000137.4(FAH):c.318A>C (p.Ala106=)
|
|
|
NM_000137.4(FAH):c.336T>A (p.Ser112=)
|
|
|
NM_000137.4(FAH):c.342G>A (p.Thr114=)
|
rs773312072
|
|
NM_000137.4(FAH):c.342G>C (p.Thr114=)
|
|
|
NM_000137.4(FAH):c.348C>T (p.His116=)
|
|
|
NM_000137.4(FAH):c.357C>T (p.Ala119=)
|
rs2142092612
|
|
NM_000137.4(FAH):c.364+10G>C
|
|
|
NM_000137.4(FAH):c.364+12C>T
|
|
|
NM_000137.4(FAH):c.364+15T>C
|
|
|
NM_000137.4(FAH):c.364+18A>T
|
|
|
NM_000137.4(FAH):c.364+19C>G
|
|
|
NM_000137.4(FAH):c.364+19C>T
|
|
|
NM_000137.4(FAH):c.364+7G>T
|
|
|
NM_000137.4(FAH):c.364+9A>G
|
|
|
NM_000137.4(FAH):c.365-10del
|
|
|
NM_000137.4(FAH):c.365-11T>C
|
|
|
NM_000137.4(FAH):c.365-12T>C
|
|
|
NM_000137.4(FAH):c.365-15G>A
|
|
|
NM_000137.4(FAH):c.365-17G>T
|
|
|
NM_000137.4(FAH):c.365-18T>G
|
|
|
NM_000137.4(FAH):c.365-4G>A
|
rs2041155157
|
|
NM_000137.4(FAH):c.365-5T>C
|
|
|
NM_000137.4(FAH):c.365-8C>G
|
|
|
NM_000137.4(FAH):c.365-9C>A
|
|
|
NM_000137.4(FAH):c.365-9C>T
|
|
|
NM_000137.4(FAH):c.396G>A (p.Gln132=)
|
|
|
NM_000137.4(FAH):c.402T>G (p.Ala134=)
|
|
|
NM_000137.4(FAH):c.414A>G (p.Gly138=)
|
rs2142093995
|
|
NM_000137.4(FAH):c.441G>T (p.Ala147=)
|
rs141863249
|
|
NM_000137.4(FAH):c.455+10G>A
|
|
|
NM_000137.4(FAH):c.455+12G>A
|
|
|
NM_000137.4(FAH):c.455+18T>C
|
|
|
NM_000137.4(FAH):c.455+19G>A
|
|
|
NM_000137.4(FAH):c.455+6_455+10del
|
|
|
NM_000137.4(FAH):c.456-10C>G
|
|
|
NM_000137.4(FAH):c.456-10C>T
|
rs2142097863
|
|
NM_000137.4(FAH):c.456-14C>A
|
|
|
NM_000137.4(FAH):c.456-4T>G
|
|
|
NM_000137.4(FAH):c.457C>T (p.Leu153=)
|
rs2142097876
|
|
NM_000137.4(FAH):c.462C>T (p.His154=)
|
|
|
NM_000137.4(FAH):c.480T>C (p.His160=)
|
rs2041209431
|
|
NM_000137.4(FAH):c.48C>T (p.Asn16=)
|
rs1256559961
|
|
NM_000137.4(FAH):c.49C>T (p.Leu17=)
|
rs2041065702
|
|
NM_000137.4(FAH):c.501G>T (p.Val167=)
|
|
|
NM_000137.4(FAH):c.513C>T (p.Thr171=)
|
rs2142097954
|
|
NM_000137.4(FAH):c.519C>A (p.Ile173=)
|
rs2142097962
|
|
NM_000137.4(FAH):c.51G>A (p.Leu17=)
|
rs756012361
|
|
NM_000137.4(FAH):c.525G>A (p.Arg175=)
|
|
|
NM_000137.4(FAH):c.534A>G (p.Gly178=)
|
rs2142097990
|
|
NM_000137.4(FAH):c.549T>C (p.Asp183=)
|
|
|
NM_000137.4(FAH):c.54C>A (p.Pro18=)
|
rs2142086887
|
|
NM_000137.4(FAH):c.553+11G>A
|
|
|
NM_000137.4(FAH):c.553+11G>T
|
|
|
NM_000137.4(FAH):c.553+16G>A
|
|
|
NM_000137.4(FAH):c.553+16G>T
|
|
|
NM_000137.4(FAH):c.553+17T>C
|
|
|
NM_000137.4(FAH):c.554-10G>A
|
rs765115302
|
|
NM_000137.4(FAH):c.554-12G>A
|
|
|
NM_000137.4(FAH):c.554-15C>T
|
rs774367598
|
|
NM_000137.4(FAH):c.554-15dup
|
|
|
NM_000137.4(FAH):c.554-16T>C
|
|
|
NM_000137.4(FAH):c.554-17_554-16insA
|
|
|
NM_000137.4(FAH):c.554-4C>G
|
rs1308165232
|
|
NM_000137.4(FAH):c.554-6T>C
|
rs2041212398
|
|
NM_000137.4(FAH):c.558G>A (p.Lys186=)
|
|
|
NM_000137.4(FAH):c.564C>G (p.Pro188=)
|
rs149988384
|
|
NM_000137.4(FAH):c.570T>C (p.Tyr190=)
|
rs2142098208
|
|
NM_000137.4(FAH):c.576C>A (p.Ala192=)
|
|
|
NM_000137.4(FAH):c.582G>A (p.Lys194=)
|
|
|
NM_000137.4(FAH):c.588G>A (p.Leu196=)
|
rs1435460132
|
|
NM_000137.4(FAH):c.591C>T (p.Asp197=)
|
|
|
NM_000137.4(FAH):c.597G>A (p.Glu199=)
|
rs2142098244
|
|
NM_000137.4(FAH):c.598C>T (p.Leu200=)
|
rs2041213194
|
|
NM_000137.4(FAH):c.606+10C>T
|
rs2142098259
|
|
NM_000137.4(FAH):c.606+11T>A
|
|
|
NM_000137.4(FAH):c.606+11T>C
|
|
|
NM_000137.4(FAH):c.606+14A>C
|
|
|
NM_000137.4(FAH):c.606+16G>C
|
|
|
NM_000137.4(FAH):c.606+17T>G
|
|
|
NM_000137.4(FAH):c.606+20T>C
|
|
|
NM_000137.4(FAH):c.606+8A>G
|
rs1444983943
|
|
NM_000137.4(FAH):c.607-10C>T
|
rs2041245977
|
|
NM_000137.4(FAH):c.607-17A>C
|
|
|
NM_000137.4(FAH):c.607-18A>G
|
|
|
NM_000137.4(FAH):c.607-20T>A
|
|
|
NM_000137.4(FAH):c.607-4T>A
|
rs2142100909
|
|
NM_000137.4(FAH):c.607-5G>A
|
rs2142100907
|
|
NM_000137.4(FAH):c.607-8C>A
|
|
|
NM_000137.4(FAH):c.607-9C>T
|
rs1325357461
|
|
NM_000137.4(FAH):c.621C>T (p.Gly207=)
|
rs1404777519
|
|
NM_000137.4(FAH):c.634T>C (p.Leu212=)
|
rs1337693496
|
|
NM_000137.4(FAH):c.63C>T (p.Val21=)
|
rs2142086898
|
|
NM_000137.4(FAH):c.642G>A (p.Glu214=)
|
|
|
NM_000137.4(FAH):c.645G>A (p.Pro215=)
|
rs151221329
|
|
NM_000137.4(FAH):c.645G>C (p.Pro215=)
|
rs151221329
|
|
NM_000137.4(FAH):c.645G>T (p.Pro215=)
|
rs151221329
|
|
NM_000137.4(FAH):c.648C>G (p.Ile216Met)
|
rs147016995
|
|
NM_000137.4(FAH):c.663C>A (p.Ala221=)
|
rs370892975
|
|
NM_000137.4(FAH):c.663C>T (p.Ala221=)
|
rs370892975
|
|
NM_000137.4(FAH):c.669G>A (p.Glu223=)
|
|
|
NM_000137.4(FAH):c.69G>A (p.Ser23=)
|
|
|
NM_000137.4(FAH):c.706+16C>T
|
|
|
NM_000137.4(FAH):c.706+20T>C
|
|
|
NM_000137.4(FAH):c.707-10T>C
|
|
|
NM_000137.4(FAH):c.707-12C>T
|
|
|
NM_000137.4(FAH):c.707-13C>T
|
|
|
NM_000137.4(FAH):c.707-7_707-5del
|
rs779284513
|
|
NM_000137.4(FAH):c.707-8T>G
|
|
|
NM_000137.4(FAH):c.709C>A (p.Arg237=)
|
|
|
NM_000137.4(FAH):c.72C>T (p.Thr24=)
|
rs768146083
|
|
NM_000137.4(FAH):c.732T>C (p.Tyr244=)
|
rs2041254296
|
|
NM_000137.4(FAH):c.735C>A (p.Val245=)
|
rs1399119821
|
|
NM_000137.4(FAH):c.735C>G (p.Val245=)
|
|
|
NM_000137.4(FAH):c.738T>G (p.Pro246=)
|
rs2142101669
|
|
NM_000137.4(FAH):c.741C>G (p.Leu247=)
|
rs145851627
|
|
NM_000137.4(FAH):c.747A>C (p.Pro249=)
|
|
|
NM_000137.4(FAH):c.753T>C (p.Leu251=)
|
rs2142101706
|
|
NM_000137.4(FAH):c.756G>A (p.Gly252=)
|
rs202041382
|
|
NM_000137.4(FAH):c.768G>C (p.Gly256=)
|
|
|
NM_000137.4(FAH):c.783G>T (p.Pro261=)
|
rs777792671
|
|
NM_000137.4(FAH):c.789G>C (p.Val263=)
|
rs2142101764
|
|
NM_000137.4(FAH):c.801T>C (p.Asp267=)
|
rs1342383488
|
|
NM_000137.4(FAH):c.807C>T (p.Leu269=)
|
|
|
NM_000137.4(FAH):c.81+10G>A
|
rs199733231
|
|
NM_000137.4(FAH):c.81+16T>C
|
|
|
NM_000137.4(FAH):c.81+17T>C
|
|
|
NM_000137.4(FAH):c.81+9T>A
|
|
|
NM_000137.4(FAH):c.82-11C>T
|
|
|
NM_000137.4(FAH):c.82-16G>A
|
|
|
NM_000137.4(FAH):c.82-19G>C
|
|
|
NM_000137.4(FAH):c.82-20C>T
|
|
|
NM_000137.4(FAH):c.82-4C>T
|
|
|
NM_000137.4(FAH):c.82-5C>A
|
|
|
NM_000137.4(FAH):c.82-5C>G
|
rs1446141136
|
|
NM_000137.4(FAH):c.82-5_82-3del
|
|
|
NM_000137.4(FAH):c.825C>G (p.Pro275=)
|
|
|
NM_000137.4(FAH):c.837+13T>A
|
|
|
NM_000137.4(FAH):c.837+17C>A
|
|
|
NM_000137.4(FAH):c.837+18A>G
|
|
|
NM_000137.4(FAH):c.838-10G>C
|
rs759821435
|
|
NM_000137.4(FAH):c.838-10G>T
|
|
|
NM_000137.4(FAH):c.838-11T>C
|
|
|
NM_000137.4(FAH):c.838-15G>A
|
|
|
NM_000137.4(FAH):c.838-19C>T
|
|
|
NM_000137.4(FAH):c.838-28_838-15del
|
rs2142103223
|
|
NM_000137.4(FAH):c.838-9C>T
|
|
|
NM_000137.4(FAH):c.846G>A (p.Arg282=)
|
rs886334563
|
|
NM_000137.4(FAH):c.850C>T (p.Leu284=)
|
|
|
NM_000137.4(FAH):c.855G>T (p.Pro285=)
|
rs73481171
|
|
NM_000137.4(FAH):c.876C>G (p.Pro292=)
|
rs2142103332
|
|
NM_000137.4(FAH):c.87A>G (p.Arg29=)
|
|
|
NM_000137.4(FAH):c.882A>G (p.Thr294=)
|
rs2142103341
|
|
NM_000137.4(FAH):c.894C>T (p.Asn298=)
|
|
|
NM_000137.4(FAH):c.897C>T (p.Leu299=)
|
rs947679755
|
|
NM_000137.4(FAH):c.906C>T (p.Asn302=)
|
rs2142103372
|
|
NM_000137.4(FAH):c.909G>C (p.Leu303=)
|
rs2142103381
|
|
NM_000137.4(FAH):c.90G>A (p.Pro30=)
|
rs202195651
|
|
NM_000137.4(FAH):c.90G>C (p.Pro30=)
|
rs202195651
|
|
NM_000137.4(FAH):c.913+10A>G
|
rs2142103401
|
|
NM_000137.4(FAH):c.913+13G>C
|
|
|
NM_000137.4(FAH):c.913+14G>A
|
|
|
NM_000137.4(FAH):c.913+15G>T
|
|
|
NM_000137.4(FAH):c.913+16A>G
|
|
|
NM_000137.4(FAH):c.913+17C>A
|
|
|
NM_000137.4(FAH):c.913+8G>T
|
|
|
NM_000137.4(FAH):c.914-10T>C
|
rs1272034690
|
|
NM_000137.4(FAH):c.914-7C>T
|
|
|
NM_000137.4(FAH):c.921A>C (p.Gly307=)
|
|
|
NM_000137.4(FAH):c.948G>A (p.Lys316=)
|
rs2142105527
|
|
NM_000137.4(FAH):c.961-11A>G
|
|
|
NM_000137.4(FAH):c.961-13C>T
|
|
|
NM_000137.4(FAH):c.961-16C>T
|
rs780170029
|
|
NM_000137.4(FAH):c.961-18C>G
|
|
|
NM_000137.4(FAH):c.961-20C>G
|
rs2142107661
|
|
NM_000137.4(FAH):c.961-5T>C
|
rs2142107684
|
|
NM_000137.4(FAH):c.961-8G>T
|
rs932983420
|
|
NM_000137.4(FAH):c.969C>T (p.Tyr323=)
|
rs1595897308
|
|
NM_000137.4(FAH):c.975G>A (p.Thr325=)
|
rs776473288
|
|
NM_000137.4(FAH):c.981G>A (p.Leu327=)
|
|
|
NM_000156.6(GAMT):c.100C>T (p.Leu34=)
|
rs2144641175
|
|
NM_000156.6(GAMT):c.108C>T (p.Ile36=)
|
rs2144641154
|
|
NM_000156.6(GAMT):c.120G>A (p.Pro40=)
|
rs2144641123
|
|
NM_000156.6(GAMT):c.138G>A (p.Glu46=)
|
rs2082632667
|
|
NM_000156.6(GAMT):c.141C>A (p.Thr47=)
|
rs1442811967
|
|
NM_000156.6(GAMT):c.141C>G (p.Thr47=)
|
rs1442811967
|
|
NM_000156.6(GAMT):c.144C>T (p.Pro48=)
|
|
|
NM_000156.6(GAMT):c.147T>C (p.Tyr49=)
|
rs2144641018
|
|
NM_000156.6(GAMT):c.156G>A (p.Ala52=)
|
rs1447391161
|
|
NM_000156.6(GAMT):c.162C>G (p.Ala54=)
|
rs2082632327
|
|
NM_000156.6(GAMT):c.162C>T (p.Ala54=)
|
rs2082632327
|
|
NM_000156.6(GAMT):c.165C>T (p.Ala55=)
|
rs767100879
|
|
NM_000156.6(GAMT):c.168C>T (p.Ala56=)
|
|
|
NM_000156.6(GAMT):c.171C>G (p.Ala57=)
|
rs1359387431
|
|
NM_000156.6(GAMT):c.181+10G>A
|
|
|
NM_000156.6(GAMT):c.181+10G>C
|
rs1555777328
|
|
NM_000156.6(GAMT):c.181+12C>T
|
|
|
NM_000156.6(GAMT):c.181+13C>G
|
|
|
NM_000156.6(GAMT):c.181+18T>G
|
rs2144640824
|
|
NM_000156.6(GAMT):c.181+7C>T
|
rs2144640848
|
|
NM_000156.6(GAMT):c.181+8C>T
|
|
|
NM_000156.6(GAMT):c.181+9C>G
|
rs762178903
|
|
NM_000156.6(GAMT):c.182-10G>T
|
rs1479331383
|
|
NM_000156.6(GAMT):c.182-12G>A
|
|
|
NM_000156.6(GAMT):c.182-17G>A
|
|
|
NM_000156.6(GAMT):c.182-4C>T
|
|
|
NM_000156.6(GAMT):c.183G>A (p.Gly61=)
|
|
|
NM_000156.6(GAMT):c.18G>A (p.Ala6=)
|
|
|
NM_000156.6(GAMT):c.195G>A (p.Leu65=)
|
rs2144638523
|
|
NM_000156.6(GAMT):c.21C>A (p.Thr7=)
|
|
|
NM_000156.6(GAMT):c.222A>G (p.Ala74=)
|
|
|
NM_000156.6(GAMT):c.237G>A (p.Gln79=)
|
|
|
NM_000156.6(GAMT):c.243G>A (p.Ala81=)
|
rs1048118950
|
|
NM_000156.6(GAMT):c.246C>A (p.Pro82=)
|
|
|
NM_000156.6(GAMT):c.246C>T (p.Pro82=)
|
|
|
NM_000156.6(GAMT):c.24C>A (p.Pro8=)
|
rs2144641443
|
|
NM_000156.6(GAMT):c.264C>A (p.Ile88=)
|
|
|
NM_000156.6(GAMT):c.264C>T (p.Ile88=)
|
|
|
NM_000156.6(GAMT):c.267C>A (p.Ile89=)
|
rs1457175740
|
|
NM_000156.6(GAMT):c.273C>T (p.Cys91=)
|
rs2144638258
|
|
NM_000156.6(GAMT):c.276T>C (p.Asn92=)
|
rs767814433
|
|
NM_000156.6(GAMT):c.27C>T (p.Ile9=)
|
rs2144641431
|
|
NM_000156.6(GAMT):c.291G>A (p.Gln97=)
|
rs796052524
|
|
NM_000156.6(GAMT):c.292C>A (p.Arg98=)
|
|
|
NM_000156.6(GAMT):c.309C>G (p.Ala103=)
|
rs2144638101
|
|
NM_000156.6(GAMT):c.315G>A (p.Arg105=)
|
rs559092619
|
|
NM_000156.6(GAMT):c.321A>G (p.Thr107=)
|
|
|
NM_000156.6(GAMT):c.324C>T (p.His108=)
|
|
|
NM_000156.6(GAMT):c.327+11G>A
|
|
|
NM_000156.6(GAMT):c.327+14C>T
|
|
|
NM_000156.6(GAMT):c.327+15G>A
|
|
|
NM_000156.6(GAMT):c.327+15G>C
|
|
|
NM_000156.6(GAMT):c.327+15G>T
|
|
|
NM_000156.6(GAMT):c.327+17A>G
|
|
|
NM_000156.6(GAMT):c.327+18G>A
|
|
|
NM_000156.6(GAMT):c.327+19G>A
|
|
|
NM_000156.6(GAMT):c.327+19G>T
|
|
|
NM_000156.6(GAMT):c.327+7C>T
|
|
|
NM_000156.6(GAMT):c.327+9C>T
|
|
|
NM_000156.6(GAMT):c.328-11C>T
|
|
|
NM_000156.6(GAMT):c.328-15T>C
|
|
|
NM_000156.6(GAMT):c.328-15T>G
|
|
|
NM_000156.6(GAMT):c.328-17C>A
|
|
|
NM_000156.6(GAMT):c.328-19_328-18del
|
rs911385649
|
|
NM_000156.6(GAMT):c.328-23_328-20del
|
|
|
NM_000156.6(GAMT):c.328-5G>A
|
rs1321189630
|
|
NM_000156.6(GAMT):c.328-5G>C
|
|
|
NM_000156.6(GAMT):c.328-7C>G
|
|
|
NM_000156.6(GAMT):c.328-7C>T
|
|
|
NM_000156.6(GAMT):c.328-9C>T
|
rs1220189610
|
|
NM_000156.6(GAMT):c.339G>A (p.Leu113=)
|
rs572944977
|
|
NM_000156.6(GAMT):c.33G>A (p.Ala11=)
|
rs763777192
|
|
NM_000156.6(GAMT):c.33G>T (p.Ala11=)
|
rs763777192
|
|
NM_000156.6(GAMT):c.346C>T (p.Leu116=)
|
|
|
NM_000156.6(GAMT):c.360G>A (p.Val120=)
|
rs776439107
|
|
NM_000156.6(GAMT):c.366C>G (p.Pro122=)
|
|
|
NM_000156.6(GAMT):c.369C>G (p.Thr123=)
|
|
|
NM_000156.6(GAMT):c.369C>T (p.Thr123=)
|
|
|
NM_000156.6(GAMT):c.372G>C (p.Leu124=)
|
rs748762855
|
|
NM_000156.6(GAMT):c.391+18G>C
|
|
|
NM_000156.6(GAMT):c.391+20A>G
|
|
|
NM_000156.6(GAMT):c.391+8G>C
|
rs1333892851
|
|
NM_000156.6(GAMT):c.391+9_391+15del
|
rs2144637383
|
|
NM_000156.6(GAMT):c.392-10C>T
|
|
|
NM_000156.6(GAMT):c.392-11T>C
|
|
|
NM_000156.6(GAMT):c.392-13G>A
|
|
|
NM_000156.6(GAMT):c.392-13G>T
|
|
|
NM_000156.6(GAMT):c.392-14T>C
|
|
|
NM_000156.6(GAMT):c.392-15C>T
|
|
|
NM_000156.6(GAMT):c.392-15_392-14del
|
|
|
NM_000156.6(GAMT):c.392-17T>G
|
|
|
NM_000156.6(GAMT):c.392-19G>A
|
rs1031492095
|
|
NM_000156.6(GAMT):c.392-5T>G
|
|
|
NM_000156.6(GAMT):c.392-6G>C
|
rs753979877
|
|
NM_000156.6(GAMT):c.392-9T>C
|
|
|
NM_000156.6(GAMT):c.392-9T>G
|
rs2082618862
|
|
NM_000156.6(GAMT):c.393G>T (p.Gly131=)
|
|
|
NM_000156.6(GAMT):c.397C>T (p.Leu133=)
|
rs2144636902
|
|
NM_000156.6(GAMT):c.399G>T (p.Leu133=)
|
rs2144636896
|
|
NM_000156.6(GAMT):c.39C>A (p.Gly13=)
|
rs1262796024
|
|
NM_000156.6(GAMT):c.39C>G (p.Gly13=)
|
|
|
NM_000156.6(GAMT):c.429C>G (p.Thr143=)
|
rs779376340
|
|
NM_000156.6(GAMT):c.429C>T (p.Thr143=)
|
|
|
NM_000156.6(GAMT):c.42G>A (p.Glu14=)
|
rs775018136
|
|
NM_000156.6(GAMT):c.456C>A (p.Ile152=)
|
rs1198352263
|
|
NM_000156.6(GAMT):c.459+11C>T
|
|
|
NM_000156.6(GAMT):c.459+12dup
|
|
|
NM_000156.6(GAMT):c.459+19C>T
|
|
|
NM_000156.6(GAMT):c.459+8T>C
|
rs2144636697
|
|
NM_000156.6(GAMT):c.459+9_459+12del
|
rs762239322
|
|
NM_000156.6(GAMT):c.45C>T (p.Asn15=)
|
|
|
NM_000156.6(GAMT):c.460-12C>G
|
|
|
NM_000156.6(GAMT):c.460-15A>G
|
|
|
NM_000156.6(GAMT):c.460-5C>T
|
|
|
NM_000156.6(GAMT):c.460-9C>G
|
rs900568054
|
|
NM_000156.6(GAMT):c.460-9C>T
|
rs900568054
|
|
NM_000156.6(GAMT):c.462C>T (p.Asn154=)
|
rs748256259
|
|
NM_000156.6(GAMT):c.465C>T (p.His155=)
|
rs1454250040
|
|
NM_000156.6(GAMT):c.486G>C (p.Pro162=)
|
rs368650653
|
|
NM_000156.6(GAMT):c.492C>G (p.Gly164=)
|
rs1555777026
|
|
NM_000156.6(GAMT):c.507C>T (p.Cys169=)
|
rs1555777024
|
|
NM_000156.6(GAMT):c.513C>A (p.Leu171=)
|
|
|
NM_000156.6(GAMT):c.513C>T (p.Leu171=)
|
rs748417607
|
|
NM_000156.6(GAMT):c.516C>A (p.Thr172=)
|
rs2144636311
|
|
NM_000156.6(GAMT):c.516C>T (p.Thr172=)
|
rs2144636311
|
|
NM_000156.6(GAMT):c.519C>T (p.Ser173=)
|
|
|
NM_000156.6(GAMT):c.51C>T (p.Ser17=)
|
rs1600160670
|
|
NM_000156.6(GAMT):c.525G>A (p.Gly175=)
|
rs2144636249
|
|
NM_000156.6(GAMT):c.525G>C (p.Gly175=)
|
rs2144636249
|
|
NM_000156.6(GAMT):c.529C>T (p.Leu177=)
|
rs750356640
|
|
NM_000156.6(GAMT):c.531G>A (p.Leu177=)
|
rs2144636218
|
|
NM_000156.6(GAMT):c.537G>A (p.Lys179=)
|
rs2144636191
|
|
NM_000156.6(GAMT):c.540C>T (p.Ser180=)
|
rs2144636187
|
|
NM_000156.6(GAMT):c.54C>G (p.Pro18=)
|
|
|
NM_000156.6(GAMT):c.552C>T (p.Asp184=)
|
|
|
NM_000156.6(GAMT):c.555C>T (p.Ile185=)
|
rs2144636150
|
|
NM_000156.6(GAMT):c.570+11C>G
|
|
|
NM_000156.6(GAMT):c.570+11C>T
|
|
|
NM_000156.6(GAMT):c.570+17T>C
|
|
|
NM_000156.6(GAMT):c.571-10C>T
|
|
|
NM_000156.6(GAMT):c.571-12A>G
|
|
|
NM_000156.6(GAMT):c.571-5A>G
|
|
|
NM_000156.6(GAMT):c.571-6G>C
|
rs2074899
|
|
NM_000156.6(GAMT):c.571-7_571-6delinsTA
|
rs2144633742
|
|
NM_000156.6(GAMT):c.571-9C>T
|
rs775582832
|
|
NM_000156.6(GAMT):c.579G>A (p.Gln193=)
|
rs1215212718
|
|
NM_000156.6(GAMT):c.588G>T (p.Ala196=)
|
rs747909654
|
|
NM_000156.6(GAMT):c.591G>A (p.Leu197=)
|
rs2144633664
|
|
NM_000156.6(GAMT):c.606C>T (p.Phe202=)
|
|
|
NM_000156.6(GAMT):c.615G>A (p.Glu205=)
|
rs1390338375
|
|
NM_000156.6(GAMT):c.630G>A (p.Glu210=)
|
|
|
NM_000156.6(GAMT):c.648A>G (p.Pro216=)
|
|
|
NM_000156.6(GAMT):c.651G>T (p.Pro217=)
|
|
|
NM_000156.6(GAMT):c.654C>G (p.Ala218=)
|
rs561375487
|
|
NM_000156.6(GAMT):c.666C>T (p.Tyr222=)
|
|
|
NM_000156.6(GAMT):c.66G>T (p.Ala22=)
|
|
|
NM_000156.6(GAMT):c.678A>G (p.Pro226=)
|
|
|
NM_000156.6(GAMT):c.690G>T (p.Thr230=)
|
|
|
NM_000156.6(GAMT):c.693C>T (p.Pro231=)
|
|
|
NM_000156.6(GAMT):c.69G>C (p.Ala23=)
|
|
|
NM_000156.6(GAMT):c.6C>T (p.Ser2=)
|
|
|
NM_000156.6(GAMT):c.705A>T (p.Lys235Asn)
|
|
|
NM_000156.6(GAMT):c.72C>A (p.Pro24=)
|
|
|
NM_000156.6(GAMT):c.81C>T (p.Tyr27=)
|
|
|
NM_000156.6(GAMT):c.87A>T (p.Ala29=)
|
rs1242704513
|
|
NM_000156.6(GAMT):c.90G>A (p.Ala30=)
|
rs2144641210
|
|
NM_000156.6(GAMT):c.96G>A (p.Thr32=)
|
rs1293967229
|
|
NM_000159.4(GCDH):c.1002G>A (p.Lys334=)
|
|
|
NM_000159.4(GCDH):c.1006C>T (p.Leu336=)
|
|
|
NM_000159.4(GCDH):c.1008G>A (p.Leu336=)
|
|
|
NM_000159.4(GCDH):c.1011A>C (p.Ala337=)
|
|
|
NM_000159.4(GCDH):c.1020C>T (p.Leu340=)
|
|
|
NM_000159.4(GCDH):c.1038C>A (p.Gly346=)
|
rs1970709021
|
|
NM_000159.4(GCDH):c.1038C>T (p.Gly346=)
|
rs1970709021
|
|
NM_000159.4(GCDH):c.1047C>T (p.Ala349=)
|
|
|
NM_000159.4(GCDH):c.1056G>A (p.Gln352=)
|
|
|
NM_000159.4(GCDH):c.1065C>A (p.Arg355=)
|
rs112816231
|
|
NM_000159.4(GCDH):c.1068G>A (p.Leu356=)
|
|
|
NM_000159.4(GCDH):c.1080C>T (p.Asp360=)
|
rs1970710700
|
|
NM_000159.4(GCDH):c.1082+10G>A
|
rs2145954156
|
|
NM_000159.4(GCDH):c.1082+12G>A
|
|
|
NM_000159.4(GCDH):c.1082+14G>T
|
|
|
NM_000159.4(GCDH):c.1082+20G>C
|
|
|
NM_000159.4(GCDH):c.1082+7G>A
|
rs1970710999
|
|
NM_000159.4(GCDH):c.1083-11G>A
|
|
|
NM_000159.4(GCDH):c.1083-14T>C
|
|
|
NM_000159.4(GCDH):c.1083-18C>G
|
|
|
NM_000159.4(GCDH):c.1083-19C>T
|
|
|
NM_000159.4(GCDH):c.1083-7C>T
|
|
|
NM_000159.4(GCDH):c.1083-8A>T
|
rs2145954753
|
|
NM_000159.4(GCDH):c.1083-9C>T
|
rs778065536
|
|
NM_000159.4(GCDH):c.108A>G (p.Thr36=)
|
|
|
NM_000159.4(GCDH):c.1107G>A (p.Leu369=)
|
rs2145954839
|
|
NM_000159.4(GCDH):c.1113G>A (p.Lys371=)
|
rs2145954850
|
|
NM_000159.4(GCDH):c.1128G>A (p.Gly376=)
|
|
|
NM_000159.4(GCDH):c.1135C>T (p.Leu379=)
|
|
|
NM_000159.4(GCDH):c.1137G>A (p.Leu379=)
|
rs1970719706
|
|
NM_000159.4(GCDH):c.114C>T (p.Ser38=)
|
rs767535651
|
|
NM_000159.4(GCDH):c.1165C>T (p.Leu389=)
|
|
|
NM_000159.4(GCDH):c.1167G>A (p.Leu389=)
|
rs398123191
|
|
NM_000159.4(GCDH):c.1167G>C (p.Leu389=)
|
|
|
NM_000159.4(GCDH):c.1167G>T (p.Leu389=)
|
|
|
NM_000159.4(GCDH):c.1179G>A (p.Gly393=)
|
|
|
NM_000159.4(GCDH):c.1194T>C (p.Tyr398=)
|
|
|
NM_000159.4(GCDH):c.1200G>T (p.Val400=)
|
|
|
NM_000159.4(GCDH):c.1203C>T (p.Ile401=)
|
|
|
NM_000159.4(GCDH):c.120G>A (p.Leu40=)
|
rs2145938892
|
|
NM_000159.4(GCDH):c.1212C>T (p.Ala404=)
|
|
|
NM_000159.4(GCDH):c.1218C>T (p.Asn406=)
|
|
|
NM_000159.4(GCDH):c.1227C>A (p.Ala409=)
|
|
|
NM_000159.4(GCDH):c.1236C>A (p.Thr412=)
|
|
|
NM_000159.4(GCDH):c.123T>A (p.Ala41=)
|
|
|
NM_000159.4(GCDH):c.123T>C (p.Ala41=)
|
rs2145938906
|
|
NM_000159.4(GCDH):c.1243+11G>A
|
rs1356042526
|
|
NM_000159.4(GCDH):c.1243+13C>T
|
|
|
NM_000159.4(GCDH):c.1243+17A>G
|
|
|
NM_000159.4(GCDH):c.1243+19A>G
|
|
|
NM_000159.4(GCDH):c.1243+20G>A
|
|
|
NM_000159.4(GCDH):c.1243+9T>G
|
|
|
NM_000159.4(GCDH):c.1244-10T>C
|
|
|
NM_000159.4(GCDH):c.1244-11A>C
|
|
|
NM_000159.4(GCDH):c.1244-13T>C
|
|
|
NM_000159.4(GCDH):c.1244-17G>A
|
|
|
NM_000159.4(GCDH):c.1244-17G>C
|
|
|
NM_000159.4(GCDH):c.1244-17_1244-16del
|
rs745657713
|
|
NM_000159.4(GCDH):c.1244-4C>T
|
rs774546166
|
|
NM_000159.4(GCDH):c.1244-6G>A
|
rs1384861178
|
|
NM_000159.4(GCDH):c.1251T>C (p.His417=)
|
|
|
NM_000159.4(GCDH):c.1254C>T (p.Asp418=)
|
|
|
NM_000159.4(GCDH):c.127+16C>T
|
|
|
NM_000159.4(GCDH):c.127+18C>T
|
|
|
NM_000159.4(GCDH):c.127+20C>T
|
|
|
NM_000159.4(GCDH):c.1278A>G (p.Arg426=)
|
|
|
NM_000159.4(GCDH):c.128-12dup
|
|
|
NM_000159.4(GCDH):c.128-5C>T
|
|
|
NM_000159.4(GCDH):c.1287G>A (p.Thr429=)
|
rs141819282
|
|
NM_000159.4(GCDH):c.1287G>T (p.Thr429=)
|
rs141819282
|
|
NM_000159.4(GCDH):c.1290A>T (p.Gly430=)
|
|
|
NM_000159.4(GCDH):c.1305G>A (p.Thr435=)
|
rs200081311
|
|
NM_000159.4(GCDH):c.1305G>C (p.Thr435=)
|
rs200081311
|
|
NM_000159.4(GCDH):c.138C>G (p.Pro46=)
|
|
|
NM_000159.4(GCDH):c.138C>T (p.Pro46=)
|
rs1403429553
|
|
NM_000159.4(GCDH):c.156C>T (p.Asp52=)
|
|
|
NM_000159.4(GCDH):c.15C>A (p.Gly5=)
|
rs2145938210
|
|
NM_000159.4(GCDH):c.15C>T (p.Gly5=)
|
|
|
NM_000159.4(GCDH):c.168G>T (p.Leu56=)
|
|
|
NM_000159.4(GCDH):c.171G>A (p.Glu57=)
|
|
|
NM_000159.4(GCDH):c.178C>T (p.Leu60=)
|
|
|
NM_000159.4(GCDH):c.189T>C (p.Asp63=)
|
|
|
NM_000159.4(GCDH):c.198C>T (p.Leu66=)
|
|
|
NM_000159.4(GCDH):c.204G>A (p.Arg68=)
|
|
|
NM_000159.4(GCDH):c.216C>T (p.Arg72=)
|
rs1970566527
|
|
NM_000159.4(GCDH):c.222C>T (p.Tyr74=)
|
|
|
NM_000159.4(GCDH):c.231G>A (p.Glu77=)
|
rs1301943901
|
|
NM_000159.4(GCDH):c.246C>A (p.Arg82=)
|
rs1466044796
|
|
NM_000159.4(GCDH):c.249C>T (p.Ile83=)
|
rs1013749296
|
|
NM_000159.4(GCDH):c.250C>T (p.Leu84=)
|
rs2145940216
|
|
NM_000159.4(GCDH):c.252G>A (p.Leu84=)
|
|
|
NM_000159.4(GCDH):c.271+11T>G
|
|
|
NM_000159.4(GCDH):c.271+16G>T
|
|
|
NM_000159.4(GCDH):c.271+8G>A
|
rs2145940277
|
|
NM_000159.4(GCDH):c.272-13G>T
|
|
|
NM_000159.4(GCDH):c.272-15C>T
|
|
|
NM_000159.4(GCDH):c.272-17C>T
|
|
|
NM_000159.4(GCDH):c.272-20G>C
|
|
|
NM_000159.4(GCDH):c.272-20G>T
|
|
|
NM_000159.4(GCDH):c.272-9C>T
|
|
|
NM_000159.4(GCDH):c.276T>C (p.Phe92=)
|
|
|
NM_000159.4(GCDH):c.279T>C (p.His93=)
|
|
|
NM_000159.4(GCDH):c.288C>T (p.Ile96=)
|
rs868023396
|
|
NM_000159.4(GCDH):c.291T>C (p.Ile97=)
|
rs766788256
|
|
NM_000159.4(GCDH):c.297G>A (p.Glu99=)
|
rs2145940675
|
|
NM_000159.4(GCDH):c.316C>T (p.Leu106=)
|
|
|
NM_000159.4(GCDH):c.327C>G (p.Thr109=)
|
rs2145940768
|
|
NM_000159.4(GCDH):c.330C>A (p.Ile110=)
|
rs745618765
|
|
NM_000159.4(GCDH):c.330C>T (p.Ile110=)
|
rs745618765
|
|
NM_000159.4(GCDH):c.334+12T>C
|
|
|
NM_000159.4(GCDH):c.334+14T>C
|
|
|
NM_000159.4(GCDH):c.334+17C>G
|
|
|
NM_000159.4(GCDH):c.334+20C>T
|
|
|
NM_000159.4(GCDH):c.334+8C>A
|
|
|
NM_000159.4(GCDH):c.334+8C>T
|
|
|
NM_000159.4(GCDH):c.335-10C>T
|
|
|
NM_000159.4(GCDH):c.335-13C>T
|
|
|
NM_000159.4(GCDH):c.335-18C>T
|
|
|
NM_000159.4(GCDH):c.335-5A>C
|
|
|
NM_000159.4(GCDH):c.335-6del
|
|
|
NM_000159.4(GCDH):c.335-7C>T
|
rs1276560235
|
|
NM_000159.4(GCDH):c.339T>C (p.Tyr113=)
|
|
|
NM_000159.4(GCDH):c.342C>T (p.Gly114=)
|
rs933742715
|
|
NM_000159.4(GCDH):c.348T>G (p.Ala116=)
|
|
|
NM_000159.4(GCDH):c.351G>A (p.Gly117=)
|
rs765292190
|
|
NM_000159.4(GCDH):c.363G>A (p.Val121=)
|
|
|
NM_000159.4(GCDH):c.366C>T (p.Ala122=)
|
rs751364711
|
|
NM_000159.4(GCDH):c.372G>A (p.Gly124=)
|
|
|
NM_000159.4(GCDH):c.372G>C (p.Gly124=)
|
|
|
NM_000159.4(GCDH):c.375C>T (p.Leu125=)
|
rs1262773034
|
|
NM_000159.4(GCDH):c.378G>C (p.Leu126=)
|
rs1599610282
|
|
NM_000159.4(GCDH):c.381C>G (p.Ala127=)
|
|
|
NM_000159.4(GCDH):c.381C>T (p.Ala127=)
|
|
|
NM_000159.4(GCDH):c.384A>G (p.Arg128=)
|
rs2145944138
|
|
NM_000159.4(GCDH):c.396G>A (p.Arg132=)
|
|
|
NM_000159.4(GCDH):c.402C>T (p.Asp134=)
|
rs2145944193
|
|
NM_000159.4(GCDH):c.408C>T (p.Gly136=)
|
|
|
NM_000159.4(GCDH):c.417G>T (p.Ser139=)
|
|
|
NM_000159.4(GCDH):c.420G>A (p.Ala140=)
|
rs1408565185
|
|
NM_000159.4(GCDH):c.429C>G (p.Val143=)
|
|
|
NM_000159.4(GCDH):c.429C>T (p.Val143=)
|
|
|
NM_000159.4(GCDH):c.438C>T (p.Ser146=)
|
rs1970606310
|
|
NM_000159.4(GCDH):c.444C>T (p.Val148=)
|
|
|
NM_000159.4(GCDH):c.459T>C (p.Tyr153=)
|
|
|
NM_000159.4(GCDH):c.45C>T (p.Pro15=)
|
rs2145938335
|
|
NM_000159.4(GCDH):c.465T>C (p.Tyr155=)
|
rs2145944531
|
|
NM_000159.4(GCDH):c.483G>A (p.Arg161=)
|
|
|
NM_000159.4(GCDH):c.486G>A (p.Gln162=)
|
rs2145944634
|
|
NM_000159.4(GCDH):c.48C>G (p.Gly16=)
|
rs1436850883
|
|
NM_000159.4(GCDH):c.495G>A (p.Leu165=)
|
rs1475804794
|
|
NM_000159.4(GCDH):c.495G>T (p.Leu165=)
|
rs1475804794
|
|
NM_000159.4(GCDH):c.505+11G>T
|
|
|
NM_000159.4(GCDH):c.505+12C>T
|
|
|
NM_000159.4(GCDH):c.505+12_505+71del
|
rs2145944782
|
|
NM_000159.4(GCDH):c.505+14C>T
|
|
|
NM_000159.4(GCDH):c.505+15A>G
|
|
|
NM_000159.4(GCDH):c.505+19G>A
|
|
|
NM_000159.4(GCDH):c.505+7G>A
|
rs2145944779
|
|
NM_000159.4(GCDH):c.506-13C>A
|
|
|
NM_000159.4(GCDH):c.506-13C>G
|
|
|
NM_000159.4(GCDH):c.506-13C>T
|
|
|
NM_000159.4(GCDH):c.506-14T>C
|
|
|
NM_000159.4(GCDH):c.506-16T>C
|
|
|
NM_000159.4(GCDH):c.506-18T>A
|
|
|
NM_000159.4(GCDH):c.506-19C>T
|
|
|
NM_000159.4(GCDH):c.506-7C>T
|
|
|
NM_000159.4(GCDH):c.506-8G>A
|
rs376016112
|
|
NM_000159.4(GCDH):c.510G>A (p.Lys170=)
|
rs200785120
|
|
NM_000159.4(GCDH):c.51G>A (p.Leu17=)
|
rs772706462
|
|
NM_000159.4(GCDH):c.525C>G (p.Gly175=)
|
|
|
NM_000159.4(GCDH):c.528C>T (p.Cys176=)
|
rs756345321
|
|
NM_000159.4(GCDH):c.540A>G (p.Thr180=)
|
rs2145950187
|
|
NM_000159.4(GCDH):c.543G>A (p.Glu181=)
|
|
|
NM_000159.4(GCDH):c.555A>C (p.Gly185=)
|
|
|
NM_000159.4(GCDH):c.570C>T (p.Ser190=)
|
|
|
NM_000159.4(GCDH):c.579C>T (p.Thr193=)
|
rs1338648863
|
|
NM_000159.4(GCDH):c.57C>A (p.Val19=)
|
rs1211924450
|
|
NM_000159.4(GCDH):c.57C>T (p.Val19=)
|
|
|
NM_000159.4(GCDH):c.591C>T (p.Tyr197=)
|
rs755546081
|
|
NM_000159.4(GCDH):c.597A>G (p.Ser199=)
|
|
|
NM_000159.4(GCDH):c.609C>T (p.Ser203=)
|
|
|
NM_000159.4(GCDH):c.624G>A (p.Gly208=)
|
|
|
NM_000159.4(GCDH):c.627C>A (p.Thr209=)
|
rs143172809
|
|
NM_000159.4(GCDH):c.633C>A (p.Thr211=)
|
rs2145950612
|
|
NM_000159.4(GCDH):c.635+10C>A
|
rs1599614516
|
|
NM_000159.4(GCDH):c.635+12G>A
|
|
|
NM_000159.4(GCDH):c.635+19G>A
|
|
|
NM_000159.4(GCDH):c.635+7G>A
|
rs2145950631
|
|
NM_000159.4(GCDH):c.636-16A>G
|
|
|
NM_000159.4(GCDH):c.636-17G>A
|
|
|
NM_000159.4(GCDH):c.636-17G>C
|
|
|
NM_000159.4(GCDH):c.636-4C>T
|
|
|
NM_000159.4(GCDH):c.636-6C>A
|
|
|
NM_000159.4(GCDH):c.636-7T>A
|
|
|
NM_000159.4(GCDH):c.636-7T>C
|
|
|
NM_000159.4(GCDH):c.636-9del
|
rs771335099
|
|
NM_000159.4(GCDH):c.63C>T (p.Arg21=)
|
|
|
NM_000159.4(GCDH):c.648G>A (p.Ser216=)
|
rs2145950883
|
|
NM_000159.4(GCDH):c.681G>A (p.Arg227=)
|
|
|
NM_000159.4(GCDH):c.681G>C (p.Arg227=)
|
|
|
NM_000159.4(GCDH):c.693C>G (p.Gly231=)
|
rs1970676135
|
|
NM_000159.4(GCDH):c.714G>A (p.Leu238=)
|
|
|
NM_000159.4(GCDH):c.729G>C (p.Arg243=)
|
rs2145951167
|
|
NM_000159.4(GCDH):c.732T>C (p.Gly244=)
|
rs1599614979
|
|
NM_000159.4(GCDH):c.735C>A (p.Leu245=)
|
rs372678445
|
|
NM_000159.4(GCDH):c.741C>T (p.Ala247=)
|
rs2145951229
|
|
NM_000159.4(GCDH):c.765G>A (p.Ser255=)
|
rs1193455540
|
|
NM_000159.4(GCDH):c.765G>T (p.Ser255=)
|
|
|
NM_000159.4(GCDH):c.786C>A (p.Gly262=)
|
rs1599615180
|
|
NM_000159.4(GCDH):c.78G>A (p.Ser26=)
|
|
|
NM_000159.4(GCDH):c.78G>C (p.Ser26=)
|
rs376747683
|
|
NM_000159.4(GCDH):c.7C>T (p.Leu3=)
|
|
|
NM_000159.4(GCDH):c.810G>A (p.Glu270=)
|
rs2145951500
|
|
NM_000159.4(GCDH):c.813G>T (p.Val271=)
|
rs2145951510
|
|
NM_000159.4(GCDH):c.81G>T (p.Ala27=)
|
rs773407020
|
|
NM_000159.4(GCDH):c.831C>T (p.Leu277=)
|
rs1355435798
|
|
NM_000159.4(GCDH):c.834T>C (p.Pro278=)
|
rs2145951607
|
|
NM_000159.4(GCDH):c.840A>C (p.Ala280=)
|
rs2145951627
|
|
NM_000159.4(GCDH):c.84G>A (p.Ala28=)
|
rs751454066
|
|
NM_000159.4(GCDH):c.84G>T (p.Ala28=)
|
|
|
NM_000159.4(GCDH):c.852+15C>G
|
|
|
NM_000159.4(GCDH):c.852+18T>A
|
|
|
NM_000159.4(GCDH):c.853-11C>T
|
|
|
NM_000159.4(GCDH):c.853-15A>C
|
|
|
NM_000159.4(GCDH):c.853-18G>A
|
|
|
NM_000159.4(GCDH):c.853-19C>T
|
|
|
NM_000159.4(GCDH):c.853-20G>T
|
|
|
NM_000159.4(GCDH):c.853-4A>G
|
|
|
NM_000159.4(GCDH):c.858C>T (p.Pro286=)
|
|
|
NM_000159.4(GCDH):c.864C>T (p.Gly288=)
|
|
|
NM_000159.4(GCDH):c.870G>A (p.Leu290=)
|
rs2145952706
|
|
NM_000159.4(GCDH):c.873C>T (p.Asn291=)
|
|
|
NM_000159.4(GCDH):c.879C>G (p.Ala293=)
|
|
|
NM_000159.4(GCDH):c.879C>T (p.Ala293=)
|
|
|
NM_000159.4(GCDH):c.882G>A (p.Arg294=)
|
rs2145952773
|
|
NM_000159.4(GCDH):c.894G>C (p.Ala298=)
|
rs150834108
|
|
NM_000159.4(GCDH):c.900C>T (p.Gly300=)
|
|
|
NM_000159.4(GCDH):c.903G>A (p.Val301=)
|
rs2145952871
|
|
NM_000159.4(GCDH):c.91+12G>A
|
|
|
NM_000159.4(GCDH):c.91+14C>A
|
|
|
NM_000159.4(GCDH):c.91+15G>T
|
|
|
NM_000159.4(GCDH):c.91+8T>A
|
|
|
NM_000159.4(GCDH):c.91+8_91+9del
|
|
|
NM_000159.4(GCDH):c.92-10G>A
|
rs1970555071
|
|
NM_000159.4(GCDH):c.92-15G>T
|
|
|
NM_000159.4(GCDH):c.92-16C>T
|
|
|
NM_000159.4(GCDH):c.92-18C>T
|
|
|
NM_000159.4(GCDH):c.92-4G>A
|
rs1970555166
|
|
NM_000159.4(GCDH):c.92-8G>C
|
rs2145938816
|
|
NM_000159.4(GCDH):c.930C>T (p.His310=)
|
rs2145952978
|
|
NM_000159.4(GCDH):c.942G>A (p.Gln314=)
|
rs2145953021
|
|
NM_000159.4(GCDH):c.956+11G>A
|
|
|
NM_000159.4(GCDH):c.956+14G>A
|
|
|
NM_000159.4(GCDH):c.956+17G>A
|
rs765218612
|
|
NM_000159.4(GCDH):c.956+18T>C
|
|
|
NM_000159.4(GCDH):c.957-16G>A
|
|
|
NM_000159.4(GCDH):c.957-20C>A
|
|
|
NM_000159.4(GCDH):c.957-20C>T
|
|
|
NM_000159.4(GCDH):c.957-6A>C
|
rs748270195
|
|
NM_000159.4(GCDH):c.957-6A>T
|
rs748270195
|
|
NM_000159.4(GCDH):c.957-7C>T
|
rs2145953733
|
|
NM_000159.4(GCDH):c.966T>C (p.Phe322=)
|
rs1436984668
|
|
NM_000159.4(GCDH):c.972C>A (p.Val324=)
|
|
|
NM_000159.4(GCDH):c.993G>A (p.Leu331=)
|
rs1477463597
|
|
NM_000159.4(GCDH):c.993G>C (p.Leu331=)
|
rs1477463597
|
|
NM_000159.4(GCDH):c.99C>A (p.Gly33=)
|
|
|
NM_000161.3(GCH1):c.111G>A (p.Glu37=)
|
|
|
NM_000161.3(GCH1):c.120G>C (p.Pro40=)
|
|
|
NM_000161.3(GCH1):c.126C>A (p.Pro42=)
|
rs2140127497
|
|
NM_000161.3(GCH1):c.126C>T (p.Pro42=)
|
rs2140127497
|
|
NM_000161.3(GCH1):c.12C>A (p.Gly4=)
|
|
|
NM_000161.3(GCH1):c.141G>A (p.Ala47=)
|
|
|
NM_000161.3(GCH1):c.141G>T (p.Ala47=)
|
|
|
NM_000161.3(GCH1):c.156C>T (p.Gly52=)
|
|
|
NM_000161.3(GCH1):c.162G>A (p.Lys54=)
|
|
|
NM_000161.3(GCH1):c.165C>T (p.Gly55=)
|
rs2040583785
|
|
NM_000161.3(GCH1):c.168G>A (p.Glu56=)
|
rs2140127407
|
|
NM_000161.3(GCH1):c.174C>T (p.Pro58=)
|
|
|
NM_000161.3(GCH1):c.183G>A (p.Glu61=)
|
|
|
NM_000161.3(GCH1):c.186G>A (p.Glu62=)
|
|
|
NM_000161.3(GCH1):c.192C>T (p.Asn64=)
|
rs1486693649
|
|
NM_000161.3(GCH1):c.196C>T (p.Leu66=)
|
|
|
NM_000161.3(GCH1):c.198G>C (p.Leu66=)
|
|
|
NM_000161.3(GCH1):c.234C>T (p.Ile78=)
|
|
|
NM_000161.3(GCH1):c.235C>T (p.Leu79=)
|
|
|
NM_000161.3(GCH1):c.243G>T (p.Ser81=)
|
rs557028351
|
|
NM_000161.3(GCH1):c.246G>C (p.Leu82=)
|
|
|
NM_000161.3(GCH1):c.252G>A (p.Glu84=)
|
rs1263510185
|
|
NM_000161.3(GCH1):c.255C>T (p.Asn85=)
|
|
|
NM_000161.3(GCH1):c.270G>A (p.Gly90=)
|
|
|
NM_000161.3(GCH1):c.273G>A (p.Leu91=)
|
|
|
NM_000161.3(GCH1):c.27G>C (p.Pro9=)
|
rs1361472755
|
|
NM_000161.3(GCH1):c.27G>T (p.Pro9=)
|
|
|
NM_000161.3(GCH1):c.300G>C (p.Ser100=)
|
|
|
NM_000161.3(GCH1):c.303C>T (p.Ala101=)
|
|
|
NM_000161.3(GCH1):c.30G>A (p.Ala10=)
|
|
|
NM_000161.3(GCH1):c.324C>A (p.Gly108=)
|
|
|
NM_000161.3(GCH1):c.327C>T (p.Tyr109=)
|
|
|
NM_000161.3(GCH1):c.33G>A (p.Glu11=)
|
rs2140127730
|
|
NM_000161.3(GCH1):c.343+10C>T
|
|
|
NM_000161.3(GCH1):c.343+11C>T
|
|
|
NM_000161.3(GCH1):c.343+12C>G
|
|
|
NM_000161.3(GCH1):c.343+12dup
|
rs759191308
|
|
NM_000161.3(GCH1):c.343+13G>T
|
|
|
NM_000161.3(GCH1):c.343+14C>G
|
|
|
NM_000161.3(GCH1):c.343+14_343+15del
|
|
|
NM_000161.3(GCH1):c.343+16G>A
|
|
|
NM_000161.3(GCH1):c.343+17G>A
|
|
|
NM_000161.3(GCH1):c.343+7G>T
|
|
|
NM_000161.3(GCH1):c.343+9G>C
|
|
|
NM_000161.3(GCH1):c.343+9G>T
|
|
|
NM_000161.3(GCH1):c.344-14G>C
|
|
|
NM_000161.3(GCH1):c.344-16715G>C
|
rs11158026
|
|
NM_000161.3(GCH1):c.344-16715G>T
|
rs11158026
|
|
NM_000161.3(GCH1):c.344-9del
|
|
|
NM_000161.3(GCH1):c.349C>T (p.Leu117=)
|
|
|
NM_000161.3(GCH1):c.351A>C (p.Leu117=)
|
|
|
NM_000161.3(GCH1):c.360T>A (p.Ala120=)
|
|
|
NM_000161.3(GCH1):c.369T>C (p.Asp123=)
|
|
|
NM_000161.3(GCH1):c.39G>C (p.Pro13=)
|
|
|
NM_000161.3(GCH1):c.432C>T (p.His144=)
|
|
|
NM_000161.3(GCH1):c.440_453+9dup
|
|
|
NM_000161.3(GCH1):c.453+11C>G
|
|
|
NM_000161.3(GCH1):c.453+14T>C
|
|
|
NM_000161.3(GCH1):c.453+16T>C
|
|
|
NM_000161.3(GCH1):c.454-11C>T
|
|
|
NM_000161.3(GCH1):c.454-13C>G
|
|
|
NM_000161.3(GCH1):c.454-16C>T
|
|
|
NM_000161.3(GCH1):c.474T>C (p.Pro158=)
|
|
|
NM_000161.3(GCH1):c.480G>A (p.Lys160=)
|
|
|
NM_000161.3(GCH1):c.486C>A (p.Val162=)
|
|
|
NM_000161.3(GCH1):c.498C>T (p.Ser166=)
|
|
|
NM_000161.3(GCH1):c.507G>C (p.Ala169=)
|
rs150158277
|
|
NM_000161.3(GCH1):c.509+12T>A
|
|
|
NM_000161.3(GCH1):c.509+12T>C
|
rs760292517
|
|
NM_000161.3(GCH1):c.509+14T>C
|
|
|
NM_000161.3(GCH1):c.509+16C>T
|
|
|
NM_000161.3(GCH1):c.509+20G>C
|
|
|
NM_000161.3(GCH1):c.509+9G>A
|
|
|
NM_000161.3(GCH1):c.509+9G>T
|
|
|
NM_000161.3(GCH1):c.510-13C>A
|
|
|
NM_000161.3(GCH1):c.510-13C>G
|
rs1172601960
|
|
NM_000161.3(GCH1):c.510-18C>T
|
|
|
NM_000161.3(GCH1):c.510-19A>G
|
rs778122258
|
|
NM_000161.3(GCH1):c.510-8T>C
|
rs2140043752
|
|
NM_000161.3(GCH1):c.510-9C>G
|
|
|
NM_000161.3(GCH1):c.525T>C (p.Tyr175=)
|
|
|
NM_000161.3(GCH1):c.541+10A>G
|
|
|
NM_000161.3(GCH1):c.542-13A>G
|
|
|
NM_000161.3(GCH1):c.542-20G>A
|
|
|
NM_000161.3(GCH1):c.542-9C>T
|
|
|
NM_000161.3(GCH1):c.549G>A (p.Glu183=)
|
|
|
NM_000161.3(GCH1):c.573A>G (p.Val191=)
|
|
|
NM_000161.3(GCH1):c.594G>T (p.Arg198=)
|
|
|
NM_000161.3(GCH1):c.606C>T (p.Val202=)
|
rs1171007081
|
|
NM_000161.3(GCH1):c.615G>A (p.Val205=)
|
|
|
NM_000161.3(GCH1):c.626+17C>G
|
rs2140041535
|
|
NM_000161.3(GCH1):c.626+18T>A
|
|
|
NM_000161.3(GCH1):c.626+7C>G
|
|
|
NM_000161.3(GCH1):c.626+7C>T
|
|
|
NM_000161.3(GCH1):c.626+9G>C
|
|
|
NM_000161.3(GCH1):c.626+9G>T
|
rs374007793
|
|
NM_000161.3(GCH1):c.627-10del
|
|
|
NM_000161.3(GCH1):c.627-14_627-10del
|
|
|
NM_000161.3(GCH1):c.627-19G>T
|
|
|
NM_000161.3(GCH1):c.642A>G (p.Val214=)
|
|
|
NM_000161.3(GCH1):c.66C>T (p.Phe22=)
|
|
|
NM_000161.3(GCH1):c.675T>A (p.Thr225=)
|
|
|
NM_000161.3(GCH1):c.687A>G (p.Thr229=)
|
|
|
NM_000161.3(GCH1):c.69C>G (p.Pro23=)
|
|
|
NM_000161.3(GCH1):c.705G>C (p.Arg235=)
|
|
|
NM_000161.3(GCH1):c.714A>T (p.Pro238=)
|
|
|
NM_000161.3(GCH1):c.72G>A (p.Glu24=)
|
|
|
NM_000161.3(GCH1):c.732C>T (p.Phe244=)
|
rs745929907
|
|
NM_000161.3(GCH1):c.752G>A (p.Ter251=)
|
|
|
NM_000161.3(GCH1):c.75G>A (p.Arg25=)
|
|
|
NM_000161.3(GCH1):c.75G>C (p.Arg25=)
|
|
|
NM_000161.3(GCH1):c.90C>G (p.Pro30=)
|
|
|
NM_000161.3(GCH1):c.90C>T (p.Pro30=)
|
|
|
NM_000161.3(GCH1):c.93G>A (p.Gly31=)
|
|
|
NM_000161.3(GCH1):c.93G>T (p.Gly31=)
|
|
|
NM_000161.3(GCH1):c.96C>G (p.Pro32=)
|
|
|
NM_000161.3(GCH1):c.96C>T (p.Pro32=)
|
|
|
NM_000170.3(GLDC):c.1008C>A (p.Val336=)
|
|
|
NM_000170.3(GLDC):c.1009C>A (p.Arg337=)
|
|
|
NM_000170.3(GLDC):c.1011A>G (p.Arg337=)
|
rs2129895844
|
|
NM_000170.3(GLDC):c.1023G>A (p.Val341=)
|
rs2129895800
|
|
NM_000170.3(GLDC):c.102C>T (p.Ser34=)
|
|
|
NM_000170.3(GLDC):c.1035T>C (p.Pro345=)
|
|
|
NM_000170.3(GLDC):c.1058+10C>G
|
rs774499942
|
|
NM_000170.3(GLDC):c.1058+10del
|
|
|
NM_000170.3(GLDC):c.1058+12C>A
|
rs1043292818
|
|
NM_000170.3(GLDC):c.1058+12C>T
|
rs1043292818
|
|
NM_000170.3(GLDC):c.1058+13A>G
|
|
|
NM_000170.3(GLDC):c.1058+16T>C
|
|
|
NM_000170.3(GLDC):c.1058+17T>C
|
|
|
NM_000170.3(GLDC):c.1058+9G>A
|
rs1363690964
|
|
NM_000170.3(GLDC):c.1058+9G>C
|
rs1363690964
|
|
NM_000170.3(GLDC):c.1059-14T>C
|
|
|
NM_000170.3(GLDC):c.1059-16C>T
|
|
|
NM_000170.3(GLDC):c.1059-4G>A
|
|
|
NM_000170.3(GLDC):c.1059-6G>A
|
|
|
NM_000170.3(GLDC):c.1059-6del
|
|
|
NM_000170.3(GLDC):c.1068T>C (p.Thr356=)
|
rs2129885580
|
|
NM_000170.3(GLDC):c.1074A>G (p.Lys358=)
|
|
|
NM_000170.3(GLDC):c.1080G>A (p.Val360=)
|
rs745502236
|
|
NM_000170.3(GLDC):c.1080G>C (p.Val360=)
|
rs745502236
|
|
NM_000170.3(GLDC):c.1089T>G (p.Leu363=)
|
|
|
NM_000170.3(GLDC):c.108C>T (p.Asp36=)
|
rs1819723828
|
|
NM_000170.3(GLDC):c.1101C>A (p.Thr367=)
|
rs2129885400
|
|
NM_000170.3(GLDC):c.1101C>T (p.Thr367=)
|
|
|
NM_000170.3(GLDC):c.1119G>C (p.Arg373=)
|
|
|
NM_000170.3(GLDC):c.1128G>A (p.Lys376=)
|
rs751362445
|
|
NM_000170.3(GLDC):c.1137C>T (p.Ser379=)
|
rs762926339
|
|
NM_000170.3(GLDC):c.1143C>T (p.Ile381=)
|
rs755376052
|
|
NM_000170.3(GLDC):c.1155+12G>T
|
|
|
NM_000170.3(GLDC):c.1155+14C>G
|
|
|
NM_000170.3(GLDC):c.1155+16G>A
|
|
|
NM_000170.3(GLDC):c.1155+16G>C
|
rs1370343582
|
|
NM_000170.3(GLDC):c.1155+17A>G
|
|
|
NM_000170.3(GLDC):c.1155+18C>T
|
|
|
NM_000170.3(GLDC):c.1155+7C>T
|
|
|
NM_000170.3(GLDC):c.1155+8A>C
|
rs2129885109
|
|
NM_000170.3(GLDC):c.1155+9C>G
|
rs994997633
|
|
NM_000170.3(GLDC):c.1155+9C>T
|
rs994997633
|
|
NM_000170.3(GLDC):c.1156-14T>C
|
rs1243954142
|
|
NM_000170.3(GLDC):c.1156-17A>T
|
|
|
NM_000170.3(GLDC):c.1156-20T>C
|
|
|
NM_000170.3(GLDC):c.1156-4T>G
|
rs2129862068
|
|
NM_000170.3(GLDC):c.1156-4_1156-3del
|
|
|
NM_000170.3(GLDC):c.1156-7C>A
|
rs150095531
|
|
NM_000170.3(GLDC):c.1158C>A (p.Ala386=)
|
|
|
NM_000170.3(GLDC):c.1158C>T (p.Ala386=)
|
|
|
NM_000170.3(GLDC):c.1161C>A (p.Leu387=)
|
rs781613958
|
|
NM_000170.3(GLDC):c.1161C>G (p.Leu387=)
|
rs781613958
|
|
NM_000170.3(GLDC):c.1162T>C (p.Leu388=)
|
|
|
NM_000170.3(GLDC):c.1167G>A (p.Ala389=)
|
rs199901045
|
|
NM_000170.3(GLDC):c.1167G>C (p.Ala389=)
|
rs199901045
|
|
NM_000170.3(GLDC):c.1179C>T (p.Ala393=)
|
|
|
NM_000170.3(GLDC):c.1185T>C (p.Phe395=)
|
|
|
NM_000170.3(GLDC):c.1188A>G (p.Ala396=)
|
rs2129861872
|
|
NM_000170.3(GLDC):c.1191C>T (p.Ile397=)
|
|
|
NM_000170.3(GLDC):c.1203C>T (p.Ser401=)
|
rs768917100
|
|
NM_000170.3(GLDC):c.120C>A (p.Gly40=)
|
|
|
NM_000170.3(GLDC):c.120C>G (p.Gly40=)
|
rs775879413
|
|
NM_000170.3(GLDC):c.1218T>C (p.His406=)
|
rs2129861696
|
|
NM_000170.3(GLDC):c.1221T>A (p.Ile407=)
|
|
|
NM_000170.3(GLDC):c.1227G>A (p.Arg409=)
|
rs778700604
|
|
NM_000170.3(GLDC):c.1233A>G (p.Val411=)
|
|
|
NM_000170.3(GLDC):c.1239T>C (p.Asn413=)
|
|
|
NM_000170.3(GLDC):c.1242C>G (p.Ala414=)
|
rs761471932
|
|
NM_000170.3(GLDC):c.1254G>A (p.Leu418=)
|
|
|
NM_000170.3(GLDC):c.1257A>G (p.Ser419=)
|
rs1818463744
|
|
NM_000170.3(GLDC):c.1261+12A>G
|
|
|
NM_000170.3(GLDC):c.1261+13T>C
|
|
|
NM_000170.3(GLDC):c.1261+14C>G
|
|
|
NM_000170.3(GLDC):c.1261+9G>T
|
rs2129861490
|
|
NM_000170.3(GLDC):c.1262-11A>C
|
|
|
NM_000170.3(GLDC):c.1262-11A>G
|
|
|
NM_000170.3(GLDC):c.1262-12T>C
|
|
|
NM_000170.3(GLDC):c.1262-13C>T
|
|
|
NM_000170.3(GLDC):c.1262-15T>C
|
|
|
NM_000170.3(GLDC):c.1262-16C>A
|
|
|
NM_000170.3(GLDC):c.1262-16C>T
|
|
|
NM_000170.3(GLDC):c.1262-17T>A
|
rs2129853883
|
|
NM_000170.3(GLDC):c.1262-17T>C
|
|
|
NM_000170.3(GLDC):c.1262-19G>C
|
|
|
NM_000170.3(GLDC):c.1262-19G>T
|
|
|
NM_000170.3(GLDC):c.1262-20G>A
|
|
|
NM_000170.3(GLDC):c.1262-4G>A
|
rs549797631
|
|
NM_000170.3(GLDC):c.1262-4G>T
|
rs549797631
|
|
NM_000170.3(GLDC):c.1262-7T>C
|
|
|
NM_000170.3(GLDC):c.1262-9C>T
|
|
|
NM_000170.3(GLDC):c.1262-9_1262-8insA
|
rs2129853829
|
|
NM_000170.3(GLDC):c.1263T>A (p.Gly421=)
|
rs1403086128
|
|
NM_000170.3(GLDC):c.1263T>C (p.Gly421=)
|
rs1403086128
|
|
NM_000170.3(GLDC):c.1266C>T (p.Leu422=)
|
|
|
NM_000170.3(GLDC):c.1269G>A (p.Lys423=)
|
rs1334975700
|
|
NM_000170.3(GLDC):c.1272A>C (p.Arg424=)
|
|
|
NM_000170.3(GLDC):c.1278G>A (p.Gly426=)
|
rs1554647023
|
|
NM_000170.3(GLDC):c.1287C>G (p.Leu429=)
|
rs2129853644
|
|
NM_000170.3(GLDC):c.1296C>T (p.Asp432=)
|
rs766465179
|
|
NM_000170.3(GLDC):c.1311C>G (p.Thr437=)
|
rs1317859936
|
|
NM_000170.3(GLDC):c.1311C>T (p.Thr437=)
|
rs1317859936
|
|
NM_000170.3(GLDC):c.1323G>A (p.Gln441=)
|
|
|
NM_000170.3(GLDC):c.1326T>C (p.Cys442=)
|
|
|
NM_000170.3(GLDC):c.1338G>A (p.Val446=)
|
|
|
NM_000170.3(GLDC):c.1344G>A (p.Glu448=)
|
rs758064858
|
|
NM_000170.3(GLDC):c.1353C>T (p.Gly451=)
|
|
|
NM_000170.3(GLDC):c.1356G>A (p.Arg452=)
|
rs1818404846
|
|
NM_000170.3(GLDC):c.1359C>G (p.Ala453=)
|
|
|
NM_000170.3(GLDC):c.1368G>C (p.Arg456=)
|
|
|
NM_000170.3(GLDC):c.1371G>A (p.Gln457=)
|
rs2129853083
|
|
NM_000170.3(GLDC):c.1381C>A (p.Arg461=)
|
rs761957837
|
|
NM_000170.3(GLDC):c.1383G>C (p.Arg461=)
|
|
|
NM_000170.3(GLDC):c.1386T>C (p.Leu462=)
|
|
|
NM_000170.3(GLDC):c.1398C>A (p.Gly466=)
|
|
|
NM_000170.3(GLDC):c.1401+10del
|
|
|
NM_000170.3(GLDC):c.1401+17G>A
|
|
|
NM_000170.3(GLDC):c.1401+17G>C
|
rs2129852854
|
|
NM_000170.3(GLDC):c.1401+18T>C
|
|
|
NM_000170.3(GLDC):c.1401+19A>G
|
|
|
NM_000170.3(GLDC):c.1402-12G>C
|
|
|
NM_000170.3(GLDC):c.1402-13T>G
|
|
|
NM_000170.3(GLDC):c.1402-14T>A
|
|
|
NM_000170.3(GLDC):c.1402-16G>T
|
|
|
NM_000170.3(GLDC):c.1413T>C (p.Ser471=)
|
|
|
NM_000170.3(GLDC):c.1416T>C (p.Leu472=)
|
|
|
NM_000170.3(GLDC):c.1419T>C (p.Asp473=)
|
rs2129850459
|
|
NM_000170.3(GLDC):c.141T>A (p.Ala47=)
|
rs1819722643
|
|
NM_000170.3(GLDC):c.141T>G (p.Ala47=)
|
|
|
NM_000170.3(GLDC):c.1428C>A (p.Val476=)
|
|
|
NM_000170.3(GLDC):c.1441C>T (p.Leu481=)
|
|
|
NM_000170.3(GLDC):c.1450T>C (p.Leu484=)
|
|
|
NM_000170.3(GLDC):c.1455G>A (p.Leu485=)
|
|
|
NM_000170.3(GLDC):c.1464T>C (p.Phe488=)
|
|
|
NM_000170.3(GLDC):c.1476A>T (p.Ser492=)
|
rs768290485
|
|
NM_000170.3(GLDC):c.1479T>C (p.Ser493=)
|
|
|
NM_000170.3(GLDC):c.147C>A (p.Ala49=)
|
|
|
NM_000170.3(GLDC):c.147C>G (p.Ala49=)
|
|
|
NM_000170.3(GLDC):c.1482+11T>C
|
|
|
NM_000170.3(GLDC):c.1482+18A>C
|
rs770032700
|
|
NM_000170.3(GLDC):c.1482+18A>G
|
|
|
NM_000170.3(GLDC):c.1482+20G>A
|
|
|
NM_000170.3(GLDC):c.1483-13G>A
|
|
|
NM_000170.3(GLDC):c.1483-13_1483-12del
|
|
|
NM_000170.3(GLDC):c.1483-16dup
|
|
|
NM_000170.3(GLDC):c.1483-19C>G
|
|
|
NM_000170.3(GLDC):c.1483-19C>T
|
|
|
NM_000170.3(GLDC):c.1483-5T>C
|
rs2129840025
|
|
NM_000170.3(GLDC):c.1483-7C>T
|
rs1818331244
|
|
NM_000170.3(GLDC):c.1483-9C>T
|
rs2129840047
|
|
NM_000170.3(GLDC):c.1488G>T (p.Leu496=)
|
|
|
NM_000170.3(GLDC):c.1491T>C (p.Val497=)
|
|
|
NM_000170.3(GLDC):c.150G>T (p.Ser50=)
|
rs768354829
|
|
NM_000170.3(GLDC):c.1515C>T (p.Cys505=)
|
rs2129839857
|
|
NM_000170.3(GLDC):c.1530G>C (p.Gly510=)
|
|
|
NM_000170.3(GLDC):c.1530G>T (p.Gly510=)
|
|
|
NM_000170.3(GLDC):c.1536G>T (p.Val512=)
|
|
|
NM_000170.3(GLDC):c.153C>T (p.Arg51=)
|
|
|
NM_000170.3(GLDC):c.1543A>C (p.Arg515=)
|
|
|
NM_000170.3(GLDC):c.1551C>T (p.Ser517=)
|
rs750825656
|
|
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg)
|
rs761064507
|
|
NM_000170.3(GLDC):c.1554G>A (p.Pro518=)
|
rs377219563
|
|
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
|
rs377219563
|
|
NM_000170.3(GLDC):c.1554G>T (p.Pro518=)
|
|
|
NM_000170.3(GLDC):c.1563C>A (p.Thr521=)
|
rs768689997
|
|
NM_000170.3(GLDC):c.1563C>T (p.Thr521=)
|
rs768689997
|
|
NM_000170.3(GLDC):c.156C>A (p.Leu52=)
|
rs779860452
|
|
NM_000170.3(GLDC):c.1580+13T>C
|
rs1563849682
|
|
NM_000170.3(GLDC):c.1580+15T>G
|
|
|
NM_000170.3(GLDC):c.1580+16G>T
|
rs1818327175
|
|
NM_000170.3(GLDC):c.1580+17T>C
|
|
|
NM_000170.3(GLDC):c.1580+17T>G
|
|
|
NM_000170.3(GLDC):c.1580+7G>A
|
|
|
NM_000170.3(GLDC):c.1580+7G>C
|
rs1205124797
|
|
NM_000170.3(GLDC):c.1580+7G>T
|
|
|
NM_000170.3(GLDC):c.1581-10G>A
|
|
|
NM_000170.3(GLDC):c.1581-17G>C
|
|
|
NM_000170.3(GLDC):c.1581-19C>T
|
|
|
NM_000170.3(GLDC):c.1581-5C>G
|
rs184463452
|
|
NM_000170.3(GLDC):c.1581-8G>A
|
|
|
NM_000170.3(GLDC):c.1587C>T (p.His529=)
|
|
|
NM_000170.3(GLDC):c.1590T>C (p.Ser530=)
|
rs2129837600
|
|
NM_000170.3(GLDC):c.1593A>G (p.Glu531=)
|
|
|
NM_000170.3(GLDC):c.1596A>C (p.Thr532=)
|
rs2129837578
|
|
NM_000170.3(GLDC):c.159G>A (p.Leu53=)
|
|
|
NM_000170.3(GLDC):c.15C>A (p.Ala5=)
|
rs1217742509
|
|
NM_000170.3(GLDC):c.1602T>C (p.Ile534=)
|
rs201758383
|
|
NM_000170.3(GLDC):c.1611C>T (p.Tyr537=)
|
|
|
NM_000170.3(GLDC):c.1621C>T (p.Leu541=)
|
|
|
NM_000170.3(GLDC):c.1623G>T (p.Leu541=)
|
|
|
NM_000170.3(GLDC):c.1635C>T (p.Asp545=)
|
rs2129837376
|
|
NM_000170.3(GLDC):c.1641C>T (p.Ser547=)
|
|
|
NM_000170.3(GLDC):c.1644T>C (p.Leu548=)
|
rs750071045
|
|
NM_000170.3(GLDC):c.165C>T (p.Arg55=)
|
rs1481397059
|
|
NM_000170.3(GLDC):c.1662A>G (p.Pro554=)
|
rs547588947
|
|
NM_000170.3(GLDC):c.1665+11G>C
|
|
|
NM_000170.3(GLDC):c.1665+12T>C
|
|
|
NM_000170.3(GLDC):c.1665+14G>A
|
|
|
NM_000170.3(GLDC):c.1665+16C>T
|
|
|
NM_000170.3(GLDC):c.1665+17T>G
|
|
|
NM_000170.3(GLDC):c.1665+7A>G
|
|
|
NM_000170.3(GLDC):c.1665+8T>C
|
|
|
NM_000170.3(GLDC):c.1666-13G>A
|
|
|
NM_000170.3(GLDC):c.1666-15A>G
|
|
|
NM_000170.3(GLDC):c.1666-6T>A
|
|
|
NM_000170.3(GLDC):c.1666-8T>C
|
rs2129836483
|
|
NM_000170.3(GLDC):c.1668A>G (p.Gly556=)
|
rs760801304
|
|
NM_000170.3(GLDC):c.1671C>G (p.Ser557=)
|
rs2129836432
|
|
NM_000170.3(GLDC):c.1674C>T (p.Cys558=)
|
rs1469574000
|
|
NM_000170.3(GLDC):c.1677C>A (p.Thr559=)
|
|
|
NM_000170.3(GLDC):c.1686G>A (p.Leu562=)
|
|
|
NM_000170.3(GLDC):c.168T>C (p.Leu56=)
|
|
|
NM_000170.3(GLDC):c.1698T>G (p.Ser566=)
|
rs2129836314
|
|
NM_000170.3(GLDC):c.16A>C (p.Arg6=)
|
|
|
NM_000170.3(GLDC):c.1704C>T (p.Leu568=)
|
rs919319637
|
|
NM_000170.3(GLDC):c.1707+11C>T
|
rs2129836174
|
|
NM_000170.3(GLDC):c.1707+12A>T
|
|
|
NM_000170.3(GLDC):c.1707+13C>T
|
|
|
NM_000170.3(GLDC):c.1707+17T>C
|
|
|
NM_000170.3(GLDC):c.1707+18G>A
|
|
|
NM_000170.3(GLDC):c.1708-18T>C
|
|
|
NM_000170.3(GLDC):c.1708-9T>G
|
rs2129832194
|
|
NM_000170.3(GLDC):c.1722A>G (p.Lys574=)
|
|
|
NM_000170.3(GLDC):c.1731A>C (p.Ala577=)
|
|
|
NM_000170.3(GLDC):c.1740C>T (p.His580=)
|
rs1587946346
|
|
NM_000170.3(GLDC):c.1743C>A (p.Pro581=)
|
|
|
NM_000170.3(GLDC):c.1743C>T (p.Pro581=)
|
|
|
NM_000170.3(GLDC):c.1749G>A (p.Val583=)
|
|
|
NM_000170.3(GLDC):c.174C>T (p.Pro58=)
|
|
|
NM_000170.3(GLDC):c.1773T>C (p.Tyr591=)
|
rs2129831810
|
|
NM_000170.3(GLDC):c.1776G>A (p.Gln592=)
|
|
|
NM_000170.3(GLDC):c.1797G>A (p.Glu599=)
|
rs1587946274
|
|
NM_000170.3(GLDC):c.1806G>A (p.Leu602=)
|
rs2129831668
|
|
NM_000170.3(GLDC):c.180C>T (p.His60=)
|
|
|
NM_000170.3(GLDC):c.183C>T (p.Asp61=)
|
rs375497905
|
|
NM_000170.3(GLDC):c.1850+12del
|
|
|
NM_000170.3(GLDC):c.1850+14T>C
|
|
|
NM_000170.3(GLDC):c.1850+17T>C
|
|
|
NM_000170.3(GLDC):c.1850+18C>G
|
|
|
NM_000170.3(GLDC):c.1850+8C>A
|
rs1326427792
|
|
NM_000170.3(GLDC):c.1850+8C>T
|
rs1326427792
|
|
NM_000170.3(GLDC):c.1850+9A>G
|
rs2129831335
|
|
NM_000170.3(GLDC):c.1851-14_1851-12del
|
|
|
NM_000170.3(GLDC):c.1863A>T (p.Gly621=)
|
|
|
NM_000170.3(GLDC):c.1869T>C (p.Tyr623=)
|
rs2129758380
|
|
NM_000170.3(GLDC):c.186C>T (p.Asp62=)
|
rs1462209032
|
|
NM_000170.3(GLDC):c.1881C>G (p.Ala627=)
|
rs2129758314
|
|
NM_000170.3(GLDC):c.1893C>G (p.Ala631=)
|
|
|
NM_000170.3(GLDC):c.1893C>T (p.Ala631=)
|
rs565751857
|
|
NM_000170.3(GLDC):c.189C>T (p.Phe63=)
|
|
|
NM_000170.3(GLDC):c.1908A>G (p.Lys636=)
|
rs552960907
|
|
NM_000170.3(GLDC):c.190G>A (p.Ala64Thr)
|
rs141601131
|
|
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser)
|
rs141601131
|
|
NM_000170.3(GLDC):c.1917G>T (p.Gly639=)
|
|
|
NM_000170.3(GLDC):c.1923A>G (p.Arg641=)
|
|
|
NM_000170.3(GLDC):c.1926+12A>G
|
|
|
NM_000170.3(GLDC):c.1926+14G>T
|
|
|
NM_000170.3(GLDC):c.1926+17G>A
|
|
|
NM_000170.3(GLDC):c.1926+19G>C
|
|
|
NM_000170.3(GLDC):c.1926+8T>C
|
rs1268260237
|
|
NM_000170.3(GLDC):c.1927-10T>C
|
|
|
NM_000170.3(GLDC):c.1927-11C>G
|
|
|
NM_000170.3(GLDC):c.1927-12T>G
|
|
|
NM_000170.3(GLDC):c.1927-13T>G
|
|
|
NM_000170.3(GLDC):c.1927-14T>C
|
|
|
NM_000170.3(GLDC):c.1927-15C>G
|
|
|
NM_000170.3(GLDC):c.1927-16C>G
|
rs1817685878
|
|
NM_000170.3(GLDC):c.1927-19C>T
|
|
|
NM_000170.3(GLDC):c.1927-21_1927-17del
|
|
|
NM_000170.3(GLDC):c.1927-4G>A
|
rs576723612
|
|
NM_000170.3(GLDC):c.1927-6C>T
|
|
|
NM_000170.3(GLDC):c.1927-7T>C
|
rs1174878870
|
|
NM_000170.3(GLDC):c.1927-8T>C
|
|
|
NM_000170.3(GLDC):c.1929T>G (p.Val643=)
|
|
|
NM_000170.3(GLDC):c.1935C>A (p.Leu645=)
|
|
|
NM_000170.3(GLDC):c.1935C>G (p.Leu645=)
|
rs1192928029
|
|
NM_000170.3(GLDC):c.1935C>T (p.Leu645=)
|
rs1192928029
|
|
NM_000170.3(GLDC):c.1947A>G (p.Ser649=)
|
|
|
NM_000170.3(GLDC):c.1950A>G (p.Ala650=)
|
rs1458021364
|
|
NM_000170.3(GLDC):c.1956G>A (p.Gly652=)
|
|
|
NM_000170.3(GLDC):c.1959C>T (p.Thr653=)
|
rs2129735219
|
|
NM_000170.3(GLDC):c.195G>C (p.Arg65=)
|
rs2130031993
|
|
NM_000170.3(GLDC):c.1971T>C (p.Ser657=)
|
|
|
NM_000170.3(GLDC):c.1974C>T (p.Ala658=)
|
rs534062853
|
|
NM_000170.3(GLDC):c.1983A>T (p.Ala661=)
|
|
|
NM_000170.3(GLDC):c.1998G>A (p.Gln666=)
|
|
|
NM_000170.3(GLDC):c.2001T>C (p.Pro667=)
|
|
|
NM_000170.3(GLDC):c.2010G>A (p.Val670=)
|
rs368248411
|
|
NM_000170.3(GLDC):c.2010G>C (p.Val670=)
|
rs368248411
|
|
NM_000170.3(GLDC):c.2025T>C (p.Asn675=)
|
|
|
NM_000170.3(GLDC):c.2034A>G (p.Ala678=)
|
|
|
NM_000170.3(GLDC):c.2043C>G (p.Leu681=)
|
|
|
NM_000170.3(GLDC):c.2043C>T (p.Leu681=)
|
rs72695507
|
|
NM_000170.3(GLDC):c.2049C>G (p.Ala683=)
|
|
|
NM_000170.3(GLDC):c.204C>A (p.Ile68=)
|
|
|
NM_000170.3(GLDC):c.204C>T (p.Ile68=)
|
rs2130031955
|
|
NM_000170.3(GLDC):c.2052+10T>C
|
|
|
NM_000170.3(GLDC):c.2052+11_2052+13del
|
|
|
NM_000170.3(GLDC):c.2052+12C>G
|
|
|
NM_000170.3(GLDC):c.2052+13T>A
|
|
|
NM_000170.3(GLDC):c.2052+13T>C
|
|
|
NM_000170.3(GLDC):c.2052+16T>G
|
rs1817682144
|
|
NM_000170.3(GLDC):c.2052+20C>T
|
|
|
NM_000170.3(GLDC):c.2052+8T>A
|
rs2129734705
|
|
NM_000170.3(GLDC):c.2053-11T>C
|
|
|
NM_000170.3(GLDC):c.2053-15C>T
|
|
|
NM_000170.3(GLDC):c.2053-16C>A
|
|
|
NM_000170.3(GLDC):c.2053-17C>A
|
|
|
NM_000170.3(GLDC):c.2053-17C>T
|
|
|
NM_000170.3(GLDC):c.2053-18A>G
|
|
|
NM_000170.3(GLDC):c.2053-9C>A
|
rs2129726722
|
|
NM_000170.3(GLDC):c.2053-9C>G
|
|
|
NM_000170.3(GLDC):c.2061G>A (p.Lys687=)
|
rs1817630045
|
|
NM_000170.3(GLDC):c.2074C>T (p.Leu692=)
|
|
|
NM_000170.3(GLDC):c.2085C>A (p.Ile695=)
|
rs145547090
|
|
NM_000170.3(GLDC):c.2085C>T (p.Ile695=)
|
rs145547090
|
|
NM_000170.3(GLDC):c.2094A>C (p.Thr698=)
|
rs779427031
|
|
NM_000170.3(GLDC):c.2094A>G (p.Thr698=)
|
|
|
NM_000170.3(GLDC):c.2109T>C (p.Asn703=)
|
|
|
NM_000170.3(GLDC):c.210T>C (p.Pro70=)
|
rs1170354400
|
|
NM_000170.3(GLDC):c.2112G>A (p.Gly704=)
|
rs1817628881
|
|
NM_000170.3(GLDC):c.2115G>C (p.Val705=)
|
rs765205689
|
|
NM_000170.3(GLDC):c.2121A>G (p.Glu707=)
|
|
|
NM_000170.3(GLDC):c.2127C>T (p.Asn709=)
|
rs753895623
|
|
NM_000170.3(GLDC):c.2136C>T (p.Asp712=)
|
rs762761551
|
|
NM_000170.3(GLDC):c.2142T>C (p.Cys714=)
|
|
|
NM_000170.3(GLDC):c.2148C>T (p.Leu716=)
|
rs367750112
|
|
NM_000170.3(GLDC):c.2160T>C (p.His720=)
|
rs758841885
|
|
NM_000170.3(GLDC):c.2163A>G (p.Gly721=)
|
rs748569405
|
|
NM_000170.3(GLDC):c.2172C>G (p.Val724=)
|
rs753855821
|
|
NM_000170.3(GLDC):c.2187A>G (p.Ala729=)
|
|
|
NM_000170.3(GLDC):c.2196T>C (p.Asn732=)
|
rs386833544
|
|
NM_000170.3(GLDC):c.2202+13G>C
|
rs1288374750
|
|
NM_000170.3(GLDC):c.2202+16G>C
|
|
|
NM_000170.3(GLDC):c.2202+17C>G
|
rs1014629026
|
|
NM_000170.3(GLDC):c.2202+17C>T
|
|
|
NM_000170.3(GLDC):c.2202+19C>A
|
|
|
NM_000170.3(GLDC):c.2202+7A>G
|
|
|
NM_000170.3(GLDC):c.2203-11C>A
|
|
|
NM_000170.3(GLDC):c.2203-11C>G
|
|
|
NM_000170.3(GLDC):c.2203-14T>C
|
|
|
NM_000170.3(GLDC):c.2203-16C>G
|
|
|
NM_000170.3(GLDC):c.2203-17C>T
|
|
|
NM_000170.3(GLDC):c.2203-18C>A
|
|
|
NM_000170.3(GLDC):c.2203-18C>G
|
|
|
NM_000170.3(GLDC):c.2203-18C>T
|
|
|
NM_000170.3(GLDC):c.2203-4G>A
|
rs2129720252
|
|
NM_000170.3(GLDC):c.2203-6T>C
|
|
|
NM_000170.3(GLDC):c.2203-8_2203-6dup
|
|
|
NM_000170.3(GLDC):c.2205G>A (p.Val735=)
|
|
|
NM_000170.3(GLDC):c.2211C>T (p.Ile737=)
|
rs1587923448
|
|
NM_000170.3(GLDC):c.2217C>T (p.Arg739=)
|
rs757437950
|
|
NM_000170.3(GLDC):c.2232G>A (p.Gly744=)
|
|
|
NM_000170.3(GLDC):c.2232G>T (p.Gly744=)
|
|
|
NM_000170.3(GLDC):c.2238T>C (p.Asp746=)
|
|
|
NM_000170.3(GLDC):c.2241C>G (p.Val747=)
|
rs375733985
|
|
NM_000170.3(GLDC):c.2247C>T (p.His749=)
|
|
|
NM_000170.3(GLDC):c.2256T>C (p.Leu752=)
|
rs1587923380
|
|
NM_000170.3(GLDC):c.2259C>T (p.His753=)
|
|
|
NM_000170.3(GLDC):c.225G>A (p.Gln75=)
|
|
|
NM_000170.3(GLDC):c.226A>C (p.Arg76=)
|
rs2130031859
|
|
NM_000170.3(GLDC):c.2277C>A (p.Pro759=)
|
|
|
NM_000170.3(GLDC):c.2277C>T (p.Pro759=)
|
rs970388208
|
|
NM_000170.3(GLDC):c.2283A>G (p.Gly761=)
|
rs1554643744
|
|
NM_000170.3(GLDC):c.2286A>G (p.Gly762=)
|
rs2129719766
|
|
NM_000170.3(GLDC):c.2292T>C (p.Gly764=)
|
rs2129719724
|
|
NM_000170.3(GLDC):c.2295T>C (p.Pro765=)
|
rs1817583288
|
|
NM_000170.3(GLDC):c.2298C>T (p.Gly766=)
|
rs1031003330
|
|
NM_000170.3(GLDC):c.2304G>C (p.Gly768=)
|
|
|
NM_000170.3(GLDC):c.2304G>T (p.Gly768=)
|
rs533775952
|
|
NM_000170.3(GLDC):c.2307C>A (p.Pro769=)
|
rs565834029
|
|
NM_000170.3(GLDC):c.2310C>T (p.Ile770=)
|
rs765661419
|
|
NM_000170.3(GLDC):c.2315+10G>A
|
|
|
NM_000170.3(GLDC):c.2315+13C>A
|
|
|
NM_000170.3(GLDC):c.2315+16C>T
|
|
|
NM_000170.3(GLDC):c.2315+19G>C
|
|
|
NM_000170.3(GLDC):c.2315+20T>C
|
rs1212346753
|
|
NM_000170.3(GLDC):c.2316-18C>T
|
rs1330113346
|
|
NM_000170.3(GLDC):c.2316-5dup
|
|
|
NM_000170.3(GLDC):c.2331C>T (p.Ala777=)
|
|
|
NM_000170.3(GLDC):c.2334G>C (p.Pro778=)
|
rs191795314
|
|
NM_000170.3(GLDC):c.2352C>G (p.Pro784=)
|
rs367781728
|
|
NM_000170.3(GLDC):c.2355C>T (p.Val785=)
|
rs2129715094
|
|
NM_000170.3(GLDC):c.2361A>C (p.Ser787=)
|
rs2129715080
|
|
NM_000170.3(GLDC):c.2361A>G (p.Ser787=)
|
|
|
NM_000170.3(GLDC):c.2364A>G (p.Leu788=)
|
rs992373079
|
|
NM_000170.3(GLDC):c.2373T>C (p.Asn791=)
|
rs923929584
|
|
NM_000170.3(GLDC):c.2376G>A (p.Glu792=)
|
rs2129715013
|
|
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser)
|
rs567167527
|
|
NM_000170.3(GLDC):c.2409C>A (p.Ala803=)
|
rs1554643608
|
|
NM_000170.3(GLDC):c.2409C>T (p.Ala803=)
|
rs1554643608
|
|
NM_000170.3(GLDC):c.2424T>C (p.Ser808=)
|
|
|
NM_000170.3(GLDC):c.2427C>T (p.Ser809=)
|
rs2129714696
|
|
NM_000170.3(GLDC):c.2430C>T (p.Ile810=)
|
rs2129714681
|
|
NM_000170.3(GLDC):c.2431T>C (p.Leu811=)
|
|
|
NM_000170.3(GLDC):c.2436C>G (p.Pro812=)
|
rs2129714654
|
|
NM_000170.3(GLDC):c.2436C>T (p.Pro812=)
|
|
|
NM_000170.3(GLDC):c.243C>T (p.Thr81=)
|
|
|
NM_000170.3(GLDC):c.2451T>C (p.Tyr817=)
|
rs766061438
|
|
NM_000170.3(GLDC):c.2454C>T (p.Ile818=)
|
rs1817554747
|
|
NM_000170.3(GLDC):c.2457+11G>C
|
rs2129714505
|
|
NM_000170.3(GLDC):c.2457+12G>A
|
|
|
NM_000170.3(GLDC):c.2457+14G>A
|
|
|
NM_000170.3(GLDC):c.2457+14G>C
|
|
|
NM_000170.3(GLDC):c.2457+14G>T
|
|
|
NM_000170.3(GLDC):c.2457+15T>G
|
|
|
NM_000170.3(GLDC):c.2457+16A>G
|
|
|
NM_000170.3(GLDC):c.2457+20G>T
|
|
|
NM_000170.3(GLDC):c.2457+8C>G
|
rs147308839
|
|
NM_000170.3(GLDC):c.2458-11C>G
|
|
|
NM_000170.3(GLDC):c.2458-12C>G
|
|
|
NM_000170.3(GLDC):c.2458-15T>G
|
|
|
NM_000170.3(GLDC):c.2458-18T>G
|
|
|
NM_000170.3(GLDC):c.2458-20T>C
|
|
|
NM_000170.3(GLDC):c.2458-26_2458-10dup
|
rs2129705813
|
|
NM_000170.3(GLDC):c.2458-4G>A
|
rs2129705803
|
|
NM_000170.3(GLDC):c.2458-4G>T
|
rs2129705803
|
|
NM_000170.3(GLDC):c.2458-7G>A
|
rs2129705811
|
|
NM_000170.3(GLDC):c.2458-7G>C
|
|
|
NM_000170.3(GLDC):c.2466A>G (p.Gly822=)
|
|
|
NM_000170.3(GLDC):c.2475T>A (p.Gly825=)
|
|
|
NM_000170.3(GLDC):c.2490G>A (p.Thr830=)
|
rs145407593
|
|
NM_000170.3(GLDC):c.2490G>C (p.Thr830=)
|
|
|
NM_000170.3(GLDC):c.2496T>G (p.Thr832=)
|
|
|
NM_000170.3(GLDC):c.2499G>T (p.Ala833=)
|
|
|
NM_000170.3(GLDC):c.249G>C (p.Gly83=)
|
rs12341698
|
|
NM_000170.3(GLDC):c.2503T>C (p.Leu835=)
|
|
|
NM_000170.3(GLDC):c.2508T>C (p.Asn836=)
|
rs2129705484
|
|
NM_000170.3(GLDC):c.2511C>G (p.Ala837=)
|
rs2129705466
|
|
NM_000170.3(GLDC):c.2517C>T (p.Tyr839=)
|
rs1817497939
|
|
NM_000170.3(GLDC):c.2523C>A (p.Ala841=)
|
rs762805307
|
|
NM_000170.3(GLDC):c.2523C>G (p.Ala841=)
|
rs762805307
|
|
NM_000170.3(GLDC):c.2526G>A (p.Lys842=)
|
rs548033815
|
|
NM_000170.3(GLDC):c.2527C>A (p.Arg843=)
|
rs1554643360
|
|
NM_000170.3(GLDC):c.252G>A (p.Leu84=)
|
rs1314463455
|
|
NM_000170.3(GLDC):c.2535A>G (p.Glu845=)
|
rs2129705267
|
|
NM_000170.3(GLDC):c.2541C>T (p.His847=)
|
|
|
NM_000170.3(GLDC):c.2544C>T (p.Tyr848=)
|
|
|
NM_000170.3(GLDC):c.255+11C>T
|
|
|
NM_000170.3(GLDC):c.255+12C>A
|
|
|
NM_000170.3(GLDC):c.255+12C>T
|
|
|
NM_000170.3(GLDC):c.255+15C>A
|
|
|
NM_000170.3(GLDC):c.255+16C>G
|
|
|
NM_000170.3(GLDC):c.255+16C>T
|
rs1819718277
|
|
NM_000170.3(GLDC):c.255+17G>C
|
|
|
NM_000170.3(GLDC):c.255+18G>A
|
|
|
NM_000170.3(GLDC):c.255+19C>T
|
|
|
NM_000170.3(GLDC):c.255+7A>G
|
|
|
NM_000170.3(GLDC):c.255+8C>A
|
|
|
NM_000170.3(GLDC):c.255+9C>A
|
|
|
NM_000170.3(GLDC):c.255+9C>G
|
|
|
NM_000170.3(GLDC):c.255+9C>T
|
rs2130031617
|
|
NM_000170.3(GLDC):c.2550T>A (p.Ile850=)
|
|
|
NM_000170.3(GLDC):c.256-13G>A
|
|
|
NM_000170.3(GLDC):c.256-18C>G
|
|
|
NM_000170.3(GLDC):c.256-19C>T
|
|
|
NM_000170.3(GLDC):c.256-20G>T
|
|
|
NM_000170.3(GLDC):c.256-4T>A
|
|
|
NM_000170.3(GLDC):c.256-9T>C
|
rs747777485
|
|
NM_000170.3(GLDC):c.2562T>A (p.Gly854=)
|
rs756304498
|
|
NM_000170.3(GLDC):c.2569+12C>G
|
|
|
NM_000170.3(GLDC):c.2569+13T>A
|
|
|
NM_000170.3(GLDC):c.2569+14T>G
|
|
|
NM_000170.3(GLDC):c.2569+16A>T
|
|
|
NM_000170.3(GLDC):c.2569+17A>T
|
|
|
NM_000170.3(GLDC):c.2569+18T>C
|
|
|
NM_000170.3(GLDC):c.2569+20T>C
|
|
|
NM_000170.3(GLDC):c.2569+7A>G
|
|
|
NM_000170.3(GLDC):c.2569+8T>G
|
rs894742250
|
|
NM_000170.3(GLDC):c.2569+9C>A
|
|
|
NM_000170.3(GLDC):c.2570-10T>A
|
|
|
NM_000170.3(GLDC):c.2570-20G>T
|
|
|
NM_000170.3(GLDC):c.2570-4A>G
|
|
|
NM_000170.3(GLDC):c.2570-8C>T
|
|
|
NM_000170.3(GLDC):c.2574T>C (p.Tyr858=)
|
|
|
NM_000170.3(GLDC):c.2577G>A (p.Val859=)
|
rs935896982
|
|
NM_000170.3(GLDC):c.2577G>C (p.Val859=)
|
rs935896982
|
|
NM_000170.3(GLDC):c.2577G>T (p.Val859=)
|
rs935896982
|
|
NM_000170.3(GLDC):c.2583T>C (p.His861=)
|
|
|
NM_000170.3(GLDC):c.2593T>C (p.Leu865=)
|
rs375375700
|
|
NM_000170.3(GLDC):c.2598C>T (p.Asp866=)
|
|
|
NM_000170.3(GLDC):c.2601G>C (p.Thr867=)
|
|
|
NM_000170.3(GLDC):c.2601G>T (p.Thr867=)
|
|
|
NM_000170.3(GLDC):c.2607C>G (p.Pro869=)
|
|
|
NM_000170.3(GLDC):c.2610C>T (p.Phe870=)
|
|
|
NM_000170.3(GLDC):c.2634T>C (p.Ala878=)
|
|
|
NM_000170.3(GLDC):c.2637G>C (p.Val879=)
|
|
|
NM_000170.3(GLDC):c.2643G>A (p.Val881=)
|
|
|
NM_000170.3(GLDC):c.2655C>G (p.Leu885=)
|
rs2129662984
|
|
NM_000170.3(GLDC):c.2665+10T>C
|
rs774684209
|
|
NM_000170.3(GLDC):c.2665+11T>A
|
|
|
NM_000170.3(GLDC):c.2665+15A>C
|
|
|
NM_000170.3(GLDC):c.2665+16C>T
|
|
|
NM_000170.3(GLDC):c.2665+20C>A
|
|
|
NM_000170.3(GLDC):c.2665+20C>T
|
|
|
NM_000170.3(GLDC):c.2665+8G>A
|
rs761468673
|
|
NM_000170.3(GLDC):c.2665+9del
|
rs1432943603
|
|
NM_000170.3(GLDC):c.2666-10C>G
|
|
|
NM_000170.3(GLDC):c.2666-10C>T
|
|
|
NM_000170.3(GLDC):c.2666-12C>G
|
|
|
NM_000170.3(GLDC):c.2666-7T>G
|
|
|
NM_000170.3(GLDC):c.2666-8C>G
|
|
|
NM_000170.3(GLDC):c.2666-9C>T
|
|
|
NM_000170.3(GLDC):c.267A>G (p.Glu89=)
|
|
|
NM_000170.3(GLDC):c.2682C>G (p.Thr894=)
|
rs2129650044
|
|
NM_000170.3(GLDC):c.2688C>A (p.Ser896=)
|
rs2129650009
|
|
NM_000170.3(GLDC):c.2688C>T (p.Ser896=)
|
|
|
NM_000170.3(GLDC):c.2694T>C (p.Pro898=)
|
rs147762931
|
|
NM_000170.3(GLDC):c.2703G>A (p.Gly901=)
|
|
|
NM_000170.3(GLDC):c.2703G>T (p.Gly901=)
|
|
|
NM_000170.3(GLDC):c.2706C>G (p.Thr902=)
|
rs752943013
|
|
NM_000170.3(GLDC):c.2709C>T (p.Leu903=)
|
|
|
NM_000170.3(GLDC):c.2715G>A (p.Val905=)
|
|
|
NM_000170.3(GLDC):c.2724T>C (p.Thr908=)
|
|
|
NM_000170.3(GLDC):c.2727G>A (p.Glu909=)
|
rs2129649835
|
|
NM_000170.3(GLDC):c.2733G>A (p.Glu911=)
|
rs1397333445
|
|
NM_000170.3(GLDC):c.2742A>G (p.Ala914=)
|
rs374022098
|
|
NM_000170.3(GLDC):c.2746C>T (p.Leu916=)
|
rs773430894
|
|
NM_000170.3(GLDC):c.2760T>C (p.Cys920=)
|
|
|
NM_000170.3(GLDC):c.2763T>C (p.Asp921=)
|
rs2129649657
|
|
NM_000170.3(GLDC):c.2781G>T (p.Arg927=)
|
|
|
NM_000170.3(GLDC):c.2790T>C (p.Ile930=)
|
|
|
NM_000170.3(GLDC):c.27G>A (p.Gly9=)
|
|
|
NM_000170.3(GLDC):c.2805G>A (p.Glu935=)
|
|
|
NM_000170.3(GLDC):c.2808C>T (p.Gly936=)
|
|
|
NM_000170.3(GLDC):c.2811C>T (p.Arg937=)
|
rs2129649432
|
|
NM_000170.3(GLDC):c.2821A>C (p.Arg941=)
|
rs1587909520
|
|
NM_000170.3(GLDC):c.282G>C (p.Thr94=)
|
rs769003941
|
|
NM_000170.3(GLDC):c.2835G>T (p.Leu945=)
|
|
|
NM_000170.3(GLDC):c.2838+10C>T
|
rs1587909491
|
|
NM_000170.3(GLDC):c.2838+11C>A
|
|
|
NM_000170.3(GLDC):c.2838+12C>G
|
|
|
NM_000170.3(GLDC):c.2838+14G>C
|
|
|
NM_000170.3(GLDC):c.2838+14G>T
|
|
|
NM_000170.3(GLDC):c.2838+16A>C
|
|
|
NM_000170.3(GLDC):c.2838+19A>G
|
|
|
NM_000170.3(GLDC):c.2838+8G>C
|
|
|
NM_000170.3(GLDC):c.2838+8G>T
|
rs1353016990
|
|
NM_000170.3(GLDC):c.2839-10T>C
|
rs750768090
|
|
NM_000170.3(GLDC):c.2839-12T>C
|
|
|
NM_000170.3(GLDC):c.2839-13G>T
|
|
|
NM_000170.3(GLDC):c.2839-13_2839-12del
|
|
|
NM_000170.3(GLDC):c.2839-19G>C
|
|
|
NM_000170.3(GLDC):c.2839-4T>C
|
rs2129645533
|
|
NM_000170.3(GLDC):c.2839-4T>G
|
|
|
NM_000170.3(GLDC):c.2839-5C>T
|
|
|
NM_000170.3(GLDC):c.2839-6T>C
|
|
|
NM_000170.3(GLDC):c.2839-7G>C
|
|
|
NM_000170.3(GLDC):c.2839-9C>G
|
|
|
NM_000170.3(GLDC):c.2844T>C (p.Ser948=)
|
rs1817084254
|
|
NM_000170.3(GLDC):c.2844T>G (p.Ser948=)
|
rs1817084254
|
|
NM_000170.3(GLDC):c.2853C>A (p.Ser951=)
|
rs1365662392
|
|
NM_000170.3(GLDC):c.2853C>T (p.Ser951=)
|
|
|
NM_000170.3(GLDC):c.2859C>G (p.Thr953=)
|
rs1817083513
|
|
NM_000170.3(GLDC):c.2868A>C (p.Thr956=)
|
|
|
NM_000170.3(GLDC):c.2868A>G (p.Thr956=)
|
|
|
NM_000170.3(GLDC):c.2868A>T (p.Thr956=)
|
|
|
NM_000170.3(GLDC):c.2874C>A (p.Ser958=)
|
|
|
NM_000170.3(GLDC):c.2874C>G (p.Ser958=)
|
|
|
NM_000170.3(GLDC):c.2877C>T (p.His959=)
|
|
|
NM_000170.3(GLDC):c.2886G>A (p.Arg962=)
|
|
|
NM_000170.3(GLDC):c.28C>T (p.Leu10=)
|
|
|
NM_000170.3(GLDC):c.2904G>A (p.Val968=)
|
|
|
NM_000170.3(GLDC):c.2907A>C (p.Ala969=)
|
|
|
NM_000170.3(GLDC):c.2907A>G (p.Ala969=)
|
|
|
NM_000170.3(GLDC):c.2916A>T (p.Pro972=)
|
|
|
NM_000170.3(GLDC):c.2919+12G>T
|
|
|
NM_000170.3(GLDC):c.2919+16C>G
|
|
|
NM_000170.3(GLDC):c.2919+16C>T
|
rs775233747
|
|
NM_000170.3(GLDC):c.2919+18G>A
|
|
|
NM_000170.3(GLDC):c.2919+18G>C
|
|
|
NM_000170.3(GLDC):c.2919+7del
|
|
|
NM_000170.3(GLDC):c.2919+9T>C
|
|
|
NM_000170.3(GLDC):c.2920-14T>G
|
|
|
NM_000170.3(GLDC):c.2920-16C>A
|
|
|
NM_000170.3(GLDC):c.2920-18A>G
|
|
|
NM_000170.3(GLDC):c.2920-4G>A
|
|
|
NM_000170.3(GLDC):c.2920-8C>G
|
rs138786708
|
|
NM_000170.3(GLDC):c.2922C>G (p.Pro974=)
|
|
|
NM_000170.3(GLDC):c.2922C>T (p.Pro974=)
|
rs2129641379
|
|
NM_000170.3(GLDC):c.2928G>A (p.Val976=)
|
|
|
NM_000170.3(GLDC):c.2940C>T (p.Asn980=)
|
|
|
NM_000170.3(GLDC):c.2943A>G (p.Lys981=)
|
|
|
NM_000170.3(GLDC):c.2946C>T (p.Phe982=)
|
rs1270215089
|
|
NM_000170.3(GLDC):c.294C>T (p.Asn98=)
|
rs1819702080
|
|
NM_000170.3(GLDC):c.2962C>A (p.Arg988=)
|
|
|
NM_000170.3(GLDC):c.2964G>C (p.Arg988=)
|
rs146045718
|
|
NM_000170.3(GLDC):c.2970T>C (p.Asp990=)
|
rs764054067
|
|
NM_000170.3(GLDC):c.2973C>T (p.Asp991=)
|
|
|
NM_000170.3(GLDC):c.2982A>C (p.Gly994=)
|
|
|
NM_000170.3(GLDC):c.2982A>G (p.Gly994=)
|
|
|
NM_000170.3(GLDC):c.2985T>C (p.Asp995=)
|
|
|
NM_000170.3(GLDC):c.2988G>A (p.Gln996=)
|
rs138640017
|
|
NM_000170.3(GLDC):c.2991C>T (p.His997=)
|
rs757398632
|
|
NM_000170.3(GLDC):c.2992C>T (p.Leu998=)
|
|
|
NM_000170.3(GLDC):c.2997T>C (p.Val999=)
|
|
|
NM_000170.3(GLDC):c.2997T>G (p.Val999=)
|
|
|
NM_000170.3(GLDC):c.3000T>C (p.Cys1000=)
|
|
|
NM_000170.3(GLDC):c.3009A>T (p.Pro1003=)
|
|
|
NM_000170.3(GLDC):c.3018A>G (p.Glu1006=)
|
rs1179382589
|
|
NM_000170.3(GLDC):c.3039T>C (p.Ser1013=)
|
rs2129641096
|
|
NM_000170.3(GLDC):c.3057T>A (p.Ser1019=)
|
rs2129641056
|
|
NM_000170.3(GLDC):c.307A>C (p.Arg103=)
|
rs781076791
|
|
NM_000170.3(GLDC):c.309A>G (p.Arg103=)
|
|
|
NM_000170.3(GLDC):c.312C>G (p.Pro104=)
|
rs764472892
|
|
NM_000170.3(GLDC):c.312C>T (p.Pro104=)
|
|
|
NM_000170.3(GLDC):c.313T>C (p.Leu105=)
|
|
|
NM_000170.3(GLDC):c.334+10C>G
|
|
|
NM_000170.3(GLDC):c.334+11G>A
|
|
|
NM_000170.3(GLDC):c.334+12G>A
|
|
|
NM_000170.3(GLDC):c.334+13G>A
|
rs749620185
|
|
NM_000170.3(GLDC):c.334+16_334+22del
|
rs1819700494
|
|
NM_000170.3(GLDC):c.334+17G>T
|
|
|
NM_000170.3(GLDC):c.334+20C>G
|
rs368832194
|
|
NM_000170.3(GLDC):c.334+20C>T
|
rs368832194
|
|
NM_000170.3(GLDC):c.334+8G>A
|
|
|
NM_000170.3(GLDC):c.334+8G>C
|
rs773212382
|
|
NM_000170.3(GLDC):c.334+9C>G
|
rs771413015
|
|
NM_000170.3(GLDC):c.335-15T>G
|
rs1819064204
|
|
NM_000170.3(GLDC):c.335-17C>G
|
|
|
NM_000170.3(GLDC):c.335-17_335-16del
|
|
|
NM_000170.3(GLDC):c.335-19C>T
|
rs773889966
|
|
NM_000170.3(GLDC):c.335-20T>C
|
|
|
NM_000170.3(GLDC):c.335-6A>G
|
|
|
NM_000170.3(GLDC):c.335-8A>C
|
rs770049528
|
|
NM_000170.3(GLDC):c.335-8A>G
|
|
|
NM_000170.3(GLDC):c.33C>A (p.Arg11=)
|
|
|
NM_000170.3(GLDC):c.34C>T (p.Leu12=)
|
rs1819728398
|
|
NM_000170.3(GLDC):c.351T>C (p.Leu117=)
|
rs2129949270
|
|
NM_000170.3(GLDC):c.360G>C (p.Leu120=)
|
|
|
NM_000170.3(GLDC):c.360G>T (p.Leu120=)
|
|
|
NM_000170.3(GLDC):c.369T>C (p.Ile123=)
|
rs2129949164
|
|
NM_000170.3(GLDC):c.36G>C (p.Leu12=)
|
rs1476935488
|
|
NM_000170.3(GLDC):c.372A>G (p.Ser124=)
|
|
|
NM_000170.3(GLDC):c.381C>T (p.Asn127=)
|
rs767326222
|
|
NM_000170.3(GLDC):c.391A>C (p.Arg131=)
|
|
|
NM_000170.3(GLDC):c.393A>G (p.Arg131=)
|
|
|
NM_000170.3(GLDC):c.396G>T (p.Ser132=)
|
rs542613459
|
|
NM_000170.3(GLDC):c.399T>C (p.Tyr133=)
|
|
|
NM_000170.3(GLDC):c.39C>T (p.Gly13=)
|
rs1819728146
|
|
NM_000170.3(GLDC):c.405C>T (p.Gly135=)
|
|
|
NM_000170.3(GLDC):c.420C>T (p.Asn140=)
|
|
|
NM_000170.3(GLDC):c.429G>A (p.Val143=)
|
|
|
NM_000170.3(GLDC):c.42C>T (p.Arg14=)
|
rs2130032913
|
|
NM_000170.3(GLDC):c.438G>T (p.Thr146=)
|
rs13289273
|
|
NM_000170.3(GLDC):c.462C>T (p.Asn154=)
|
|
|
NM_000170.3(GLDC):c.465A>G (p.Ser155=)
|
|
|
NM_000170.3(GLDC):c.468A>G (p.Gly156=)
|
rs2129948789
|
|
NM_000170.3(GLDC):c.470+10T>C
|
|
|
NM_000170.3(GLDC):c.470+16G>C
|
|
|
NM_000170.3(GLDC):c.470+17T>C
|
|
|
NM_000170.3(GLDC):c.470+9T>C
|
rs2129948755
|
|
NM_000170.3(GLDC):c.471-12T>C
|
|
|
NM_000170.3(GLDC):c.471-13G>T
|
|
|
NM_000170.3(GLDC):c.471-14T>G
|
|
|
NM_000170.3(GLDC):c.471-15T>A
|
rs1310810720
|
|
NM_000170.3(GLDC):c.471-15T>C
|
|
|
NM_000170.3(GLDC):c.471-17T>A
|
|
|
NM_000170.3(GLDC):c.471-18C>G
|
|
|
NM_000170.3(GLDC):c.471-18C>T
|
|
|
NM_000170.3(GLDC):c.471-20A>T
|
|
|
NM_000170.3(GLDC):c.471-5dup
|
rs2129916881
|
|
NM_000170.3(GLDC):c.471-7C>G
|
rs1362669104
|
|
NM_000170.3(GLDC):c.474C>T (p.Ile158=)
|
rs2129916861
|
|
NM_000170.3(GLDC):c.480G>A (p.Gln160=)
|
|
|
NM_000170.3(GLDC):c.498T>G (p.Pro166=)
|
|
|
NM_000170.3(GLDC):c.504G>A (p.Val168=)
|
|
|
NM_000170.3(GLDC):c.504G>T (p.Val168=)
|
|
|
NM_000170.3(GLDC):c.510G>A (p.Gln170=)
|
|
|
NM_000170.3(GLDC):c.51G>C (p.Gly17=)
|
rs947785805
|
|
NM_000170.3(GLDC):c.531C>G (p.Leu177=)
|
rs763706954
|
|
NM_000170.3(GLDC):c.531C>T (p.Leu177=)
|
|
|
NM_000170.3(GLDC):c.534C>T (p.Asn178=)
|
rs375402770
|
|
NM_000170.3(GLDC):c.543C>T (p.Thr181=)
|
|
|
NM_000170.3(GLDC):c.555C>T (p.Asp185=)
|
rs2129916426
|
|
NM_000170.3(GLDC):c.564C>A (p.Gly188=)
|
|
|
NM_000170.3(GLDC):c.567G>A (p.Leu189=)
|
|
|
NM_000170.3(GLDC):c.570C>T (p.Asp190=)
|
rs574428768
|
|
NM_000170.3(GLDC):c.579T>C (p.Asn193=)
|
|
|
NM_000170.3(GLDC):c.582A>G (p.Ala194=)
|
rs1587964992
|
|
NM_000170.3(GLDC):c.589C>T (p.Leu197=)
|
rs1461615694
|
|
NM_000170.3(GLDC):c.600G>T (p.Gly200=)
|
|
|
NM_000170.3(GLDC):c.609C>A (p.Ala203=)
|
|
|
NM_000170.3(GLDC):c.609C>G (p.Ala203=)
|
rs201699152
|
|
NM_000170.3(GLDC):c.609C>T (p.Ala203=)
|
rs201699152
|
|
NM_000170.3(GLDC):c.618A>G (p.Ala206=)
|
rs764552944
|
|
NM_000170.3(GLDC):c.625C>T (p.Leu209=)
|
|
|
NM_000170.3(GLDC):c.627G>A (p.Leu209=)
|
|
|
NM_000170.3(GLDC):c.635+10C>T
|
|
|
NM_000170.3(GLDC):c.635+14C>T
|
|
|
NM_000170.3(GLDC):c.635+15A>G
|
|
|
NM_000170.3(GLDC):c.635+16A>T
|
rs182471927
|
|
NM_000170.3(GLDC):c.635+7G>A
|
|
|
NM_000170.3(GLDC):c.635+8G>A
|
rs760774268
|
|
NM_000170.3(GLDC):c.635+9C>A
|
rs775573191
|
|
NM_000170.3(GLDC):c.636-12T>C
|
|
|
NM_000170.3(GLDC):c.636-15T>C
|
|
|
NM_000170.3(GLDC):c.636-17C>G
|
|
|
NM_000170.3(GLDC):c.636-18G>A
|
|
|
NM_000170.3(GLDC):c.636-20G>T
|
|
|
NM_000170.3(GLDC):c.636-5A>G
|
rs1818740864
|
|
NM_000170.3(GLDC):c.636-5A>T
|
|
|
NM_000170.3(GLDC):c.636-6C>T
|
rs2129903875
|
|
NM_000170.3(GLDC):c.636-7T>C
|
|
|
NM_000170.3(GLDC):c.636-9T>C
|
rs1254322993
|
|
NM_000170.3(GLDC):c.639C>T (p.His213=)
|
|
|
NM_000170.3(GLDC):c.63C>T (p.Arg21=)
|
|
|
NM_000170.3(GLDC):c.645G>A (p.Lys215=)
|
rs1818740340
|
|
NM_000170.3(GLDC):c.646A>C (p.Arg216=)
|
|
|
NM_000170.3(GLDC):c.64C>T (p.Leu22=)
|
|
|
NM_000170.3(GLDC):c.663T>G (p.Val221=)
|
rs2129903677
|
|
NM_000170.3(GLDC):c.669C>A (p.Pro223=)
|
|
|
NM_000170.3(GLDC):c.66G>C (p.Leu22=)
|
rs1337924090
|
|
NM_000170.3(GLDC):c.66G>T (p.Leu22=)
|
rs1337924090
|
|
NM_000170.3(GLDC):c.675C>T (p.Cys225=)
|
|
|
NM_000170.3(GLDC):c.681A>C (p.Pro227=)
|
|
|
NM_000170.3(GLDC):c.681A>G (p.Pro227=)
|
rs1818739152
|
|
NM_000170.3(GLDC):c.684G>A (p.Gln228=)
|
rs2129903563
|
|
NM_000170.3(GLDC):c.713+12G>C
|
|
|
NM_000170.3(GLDC):c.713+13A>T
|
|
|
NM_000170.3(GLDC):c.713+14T>G
|
rs560495542
|
|
NM_000170.3(GLDC):c.713+17G>C
|
|
|
NM_000170.3(GLDC):c.713+18T>A
|
|
|
NM_000170.3(GLDC):c.713+18del
|
|
|
NM_000170.3(GLDC):c.713+19G>A
|
|
|
NM_000170.3(GLDC):c.713+7_713+10del
|
rs2129903352
|
|
NM_000170.3(GLDC):c.713+8A>G
|
|
|
NM_000170.3(GLDC):c.713+8A>T
|
rs367971072
|
|
NM_000170.3(GLDC):c.713+9T>C
|
|
|
NM_000170.3(GLDC):c.714-10G>A
|
|
|
NM_000170.3(GLDC):c.714-11T>C
|
|
|
NM_000170.3(GLDC):c.714-13T>A
|
|
|
NM_000170.3(GLDC):c.714-15_714-13del
|
rs780790361
|
|
NM_000170.3(GLDC):c.714-17G>T
|
|
|
NM_000170.3(GLDC):c.714-18T>C
|
|
|
NM_000170.3(GLDC):c.714-19T>C
|
|
|
NM_000170.3(GLDC):c.714-19T>G
|
rs1387477311
|
|
NM_000170.3(GLDC):c.714-4C>A
|
rs1206369229
|
|
NM_000170.3(GLDC):c.714-4C>G
|
rs1206369229
|
|
NM_000170.3(GLDC):c.714-5T>A
|
|
|
NM_000170.3(GLDC):c.714-8C>G
|
rs746399537
|
|
NM_000170.3(GLDC):c.714-9T>C
|
rs2129898712
|
|
NM_000170.3(GLDC):c.720T>C (p.Thr240=)
|
rs2129898600
|
|
NM_000170.3(GLDC):c.723A>G (p.Gly241=)
|
|
|
NM_000170.3(GLDC):c.726C>T (p.Val242=)
|
rs377750481
|
|
NM_000170.3(GLDC):c.72G>A (p.Gly24=)
|
rs1161994258
|
|
NM_000170.3(GLDC):c.72G>C (p.Gly24=)
|
rs1161994258
|
|
NM_000170.3(GLDC):c.747C>G (p.Pro249=)
|
|
|
NM_000170.3(GLDC):c.759C>T (p.Asp253=)
|
|
|
NM_000170.3(GLDC):c.777C>T (p.Val259=)
|
|
|
NM_000170.3(GLDC):c.780T>C (p.Ser260=)
|
rs2129898347
|
|
NM_000170.3(GLDC):c.783A>T (p.Gly261=)
|
|
|
NM_000170.3(GLDC):c.78G>T (p.Ser26=)
|
|
|
NM_000170.3(GLDC):c.792C>T (p.Phe264=)
|
|
|
NM_000170.3(GLDC):c.810G>A (p.Glu270=)
|
rs760055824
|
|
NM_000170.3(GLDC):c.819G>A (p.Val273=)
|
rs2129898179
|
|
NM_000170.3(GLDC):c.81G>A (p.Gly27=)
|
rs1457809070
|
|
NM_000170.3(GLDC):c.81G>T (p.Gly27=)
|
|
|
NM_000170.3(GLDC):c.831G>C (p.Thr277=)
|
rs369824891
|
|
NM_000170.3(GLDC):c.831G>T (p.Thr277=)
|
rs369824891
|
|
NM_000170.3(GLDC):c.834A>G (p.Glu278=)
|
|
|
NM_000170.3(GLDC):c.837C>T (p.Leu279=)
|
rs755904706
|
|
NM_000170.3(GLDC):c.840G>A (p.Val280=)
|
|
|
NM_000170.3(GLDC):c.840G>T (p.Val280=)
|
rs781162390
|
|
NM_000170.3(GLDC):c.849T>C (p.Ala283=)
|
rs2129898030
|
|
NM_000170.3(GLDC):c.84G>A (p.Pro28=)
|
|
|
NM_000170.3(GLDC):c.84G>C (p.Pro28=)
|
rs1259938806
|
|
NM_000170.3(GLDC):c.861+11C>G
|
rs757254927
|
|
NM_000170.3(GLDC):c.861+18G>C
|
|
|
NM_000170.3(GLDC):c.861+18G>T
|
rs1387226807
|
|
NM_000170.3(GLDC):c.861+20G>T
|
|
|
NM_000170.3(GLDC):c.861+7dup
|
rs2129897938
|
|
NM_000170.3(GLDC):c.861+8_861+9del
|
rs753142140
|
|
NM_000170.3(GLDC):c.862-10T>A
|
rs1264036061
|
|
NM_000170.3(GLDC):c.862-16C>T
|
rs780268150
|
|
NM_000170.3(GLDC):c.862-18C>G
|
|
|
NM_000170.3(GLDC):c.862-18C>T
|
|
|
NM_000170.3(GLDC):c.862-7T>C
|
rs761854548
|
|
NM_000170.3(GLDC):c.862-7T>G
|
rs761854548
|
|
NM_000170.3(GLDC):c.862-8C>G
|
|
|
NM_000170.3(GLDC):c.862-9C>G
|
rs1818696548
|
|
NM_000170.3(GLDC):c.862-9C>T
|
|
|
NM_000170.3(GLDC):c.862-9_862-6del
|
rs2129896706
|
|
NM_000170.3(GLDC):c.864C>T (p.Ser288=)
|
|
|
NM_000170.3(GLDC):c.879T>A (p.Ala293=)
|
rs776503486
|
|
NM_000170.3(GLDC):c.87C>T (p.Cys29=)
|
rs2130032585
|
|
NM_000170.3(GLDC):c.882T>C (p.Thr294=)
|
rs757906469
|
|
NM_000170.3(GLDC):c.894T>C (p.Ala298=)
|
rs2129896515
|
|
NM_000170.3(GLDC):c.903C>T (p.Ile301=)
|
rs1818695265
|
|
NM_000170.3(GLDC):c.906G>A (p.Leu302=)
|
|
|
NM_000170.3(GLDC):c.912A>G (p.Pro304=)
|
|
|
NM_000170.3(GLDC):c.918A>C (p.Gly306=)
|
rs1157125186
|
|
NM_000170.3(GLDC):c.918A>G (p.Gly306=)
|
|
|
NM_000170.3(GLDC):c.921A>G (p.Glu307=)
|
|
|
NM_000170.3(GLDC):c.930A>C (p.Val310=)
|
|
|
NM_000170.3(GLDC):c.933C>T (p.Asp311=)
|
|
|
NM_000170.3(GLDC):c.939C>T (p.Ala313=)
|
|
|
NM_000170.3(GLDC):c.93G>C (p.Ala31=)
|
rs2130032552
|
|
NM_000170.3(GLDC):c.945C>G (p.Gly315=)
|
|
|
NM_000170.3(GLDC):c.948C>T (p.Ser316=)
|
rs2129896227
|
|
NM_000170.3(GLDC):c.954G>A (p.Gln318=)
|
rs1818693894
|
|
NM_000170.3(GLDC):c.957A>G (p.Arg319=)
|
|
|
NM_000170.3(GLDC):c.960T>C (p.Phe320=)
|
|
|
NM_000170.3(GLDC):c.963A>G (p.Gly321=)
|
rs1471765259
|
|
NM_000170.3(GLDC):c.96G>A (p.Pro32=)
|
rs1430526811
|
|
NM_000170.3(GLDC):c.978T>C (p.Tyr326=)
|
|
|
NM_000170.3(GLDC):c.981G>A (p.Gly327=)
|
rs1818693268
|
|
NM_000170.3(GLDC):c.981G>C (p.Gly327=)
|
rs1818693268
|
|
NM_000170.3(GLDC):c.981G>T (p.Gly327=)
|
|
|
NM_000170.3(GLDC):c.984A>G (p.Gly328=)
|
rs2129896036
|
|
NM_000170.3(GLDC):c.984A>T (p.Gly328=)
|
|
|
NM_000170.3(GLDC):c.993A>G (p.Ala331=)
|
|
|
NM_000170.3(GLDC):c.996A>C (p.Ala332=)
|
|
|
NM_000170.3(GLDC):c.996A>G (p.Ala332=)
|
|
|
NM_000170.3(GLDC):c.99G>A (p.Arg33=)
|
rs1554652817
|
|
NM_000170.3(GLDC):c.9C>G (p.Ser3=)
|
|
|
NM_000170.3(GLDC):c.9C>T (p.Ser3=)
|
|
|
NM_000182.5(HADHA):c.1011G>A (p.Lys337=)
|
|
|
NM_000182.5(HADHA):c.1014C>G (p.Ala338=)
|
|
|
NM_000182.5(HADHA):c.1015T>C (p.Leu339=)
|
rs2147766676
|
|
NM_000182.5(HADHA):c.1023A>G (p.Gly341=)
|
|
|
NM_000182.5(HADHA):c.1032T>C (p.His344=)
|
|
|
NM_000182.5(HADHA):c.1041C>A (p.Val347=)
|
|
|
NM_000182.5(HADHA):c.1042C>T (p.Leu348=)
|
|
|
NM_000182.5(HADHA):c.1044G>A (p.Leu348=)
|
rs1574612640
|
|
NM_000182.5(HADHA):c.1050G>A (p.Lys350=)
|
rs2147766641
|
|
NM_000182.5(HADHA):c.1053G>A (p.Lys351=)
|
|
|
NM_000182.5(HADHA):c.105G>A (p.Leu35=)
|
rs772322566
|
|
NM_000182.5(HADHA):c.1065A>C (p.Gly355=)
|
rs1574612617
|
|
NM_000182.5(HADHA):c.1077G>A (p.Lys359=)
|
rs2147766596
|
|
NM_000182.5(HADHA):c.1085+10del
|
|
|
NM_000182.5(HADHA):c.1085+12T>G
|
|
|
NM_000182.5(HADHA):c.1085+15A>G
|
|
|
NM_000182.5(HADHA):c.1085+16C>T
|
|
|
NM_000182.5(HADHA):c.1085+19A>G
|
|
|
NM_000182.5(HADHA):c.1086-8C>T
|
|
|
NM_000182.5(HADHA):c.1086-9G>T
|
|
|
NM_000182.5(HADHA):c.110-10T>C
|
rs372046774
|
|
NM_000182.5(HADHA):c.110-11T>C
|
|
|
NM_000182.5(HADHA):c.110-12T>A
|
|
|
NM_000182.5(HADHA):c.110-12T>C
|
|
|
NM_000182.5(HADHA):c.110-13C>A
|
rs1314506688
|
|
NM_000182.5(HADHA):c.110-13_110-10del
|
|
|
NM_000182.5(HADHA):c.110-14T>A
|
|
|
NM_000182.5(HADHA):c.110-14T>C
|
|
|
NM_000182.5(HADHA):c.110-15T>G
|
|
|
NM_000182.5(HADHA):c.110-17C>T
|
|
|
NM_000182.5(HADHA):c.1110G>C (p.Gly370=)
|
|
|
NM_000182.5(HADHA):c.1113G>T (p.Leu371=)
|
|
|
NM_000182.5(HADHA):c.1119A>G (p.Gly373=)
|
rs2147762370
|
|
NM_000182.5(HADHA):c.1125C>T (p.Gly375=)
|
|
|
NM_000182.5(HADHA):c.1131C>G (p.Ala377=)
|
|
|
NM_000182.5(HADHA):c.1137C>A (p.Val379=)
|
|
|
NM_000182.5(HADHA):c.1173T>C (p.Asp391=)
|
|
|
NM_000182.5(HADHA):c.1188G>A (p.Ala396=)
|
rs781338540
|
|
NM_000182.5(HADHA):c.1188G>T (p.Ala396=)
|
|
|
NM_000182.5(HADHA):c.1194C>T (p.Asp398=)
|
|
|
NM_000182.5(HADHA):c.1220+10C>A
|
|
|
NM_000182.5(HADHA):c.1220+10CT[3]
|
|
|
NM_000182.5(HADHA):c.1220+12C>G
|
|
|
NM_000182.5(HADHA):c.1220+12C>T
|
|
|
NM_000182.5(HADHA):c.1220+16C>G
|
|
|
NM_000182.5(HADHA):c.1220+16C>T
|
|
|
NM_000182.5(HADHA):c.1220+17T>C
|
|
|
NM_000182.5(HADHA):c.1220+9G>A
|
|
|
NM_000182.5(HADHA):c.1220+9G>C
|
rs539814267
|
|
NM_000182.5(HADHA):c.1221-11G>T
|
|
|
NM_000182.5(HADHA):c.1222T>C (p.Leu408=)
|
|
|
NM_000182.5(HADHA):c.1236G>T (p.Val412=)
|
|
|
NM_000182.5(HADHA):c.1242G>A (p.Lys414=)
|
rs781509327
|
|
NM_000182.5(HADHA):c.1248T>G (p.Ala416=)
|
rs769173885
|
|
NM_000182.5(HADHA):c.1266G>A (p.Arg422=)
|
|
|
NM_000182.5(HADHA):c.1290T>C (p.Thr430=)
|
|
|
NM_000182.5(HADHA):c.129T>C (p.Tyr43=)
|
rs2147785511
|
|
NM_000182.5(HADHA):c.1350G>A (p.Glu450=)
|
|
|
NM_000182.5(HADHA):c.1365G>A (p.Lys455=)
|
rs2147759599
|
|
NM_000182.5(HADHA):c.1368C>T (p.His456=)
|
|
|
NM_000182.5(HADHA):c.1392+11G>A
|
|
|
NM_000182.5(HADHA):c.1392+14T>C
|
|
|
NM_000182.5(HADHA):c.1392+14T>G
|
|
|
NM_000182.5(HADHA):c.1392+15G>A
|
|
|
NM_000182.5(HADHA):c.1392+18G>A
|
|
|
NM_000182.5(HADHA):c.1392+18G>T
|
|
|
NM_000182.5(HADHA):c.1392+19T>C
|
|
|
NM_000182.5(HADHA):c.1393-13T>C
|
|
|
NM_000182.5(HADHA):c.1393-16T>C
|
|
|
NM_000182.5(HADHA):c.1393-17dup
|
|
|
NM_000182.5(HADHA):c.1393-20T>A
|
|
|
NM_000182.5(HADHA):c.1413C>T (p.Ile471=)
|
|
|
NM_000182.5(HADHA):c.1419C>G (p.Ala473=)
|
|
|
NM_000182.5(HADHA):c.141G>A (p.Gly47=)
|
rs1670826504
|
|
NM_000182.5(HADHA):c.1422T>C (p.Ser474=)
|
rs2147756121
|
|
NM_000182.5(HADHA):c.1431T>G (p.Ser477=)
|
rs758130768
|
|
NM_000182.5(HADHA):c.1437C>T (p.Leu479=)
|
|
|
NM_000182.5(HADHA):c.1440A>C (p.Pro480=)
|
|
|
NM_000182.5(HADHA):c.1452C>A (p.Ile484=)
|
rs758386186
|
|
NM_000182.5(HADHA):c.1452C>T (p.Ile484=)
|
rs758386186
|
|
NM_000182.5(HADHA):c.1461C>A (p.Val487=)
|
|
|
NM_000182.5(HADHA):c.1476G>A (p.Glu492=)
|
|
|
NM_000182.5(HADHA):c.1479+12A>G
|
|
|
NM_000182.5(HADHA):c.1479+14A>G
|
|
|
NM_000182.5(HADHA):c.1479+14A>T
|
|
|
NM_000182.5(HADHA):c.1479+17G>A
|
|
|
NM_000182.5(HADHA):c.1479+7T>A
|
rs1574605330
|
|
NM_000182.5(HADHA):c.1479+8C>A
|
rs764385972
|
|
NM_000182.5(HADHA):c.1479+8C>T
|
rs764385972
|
|
NM_000182.5(HADHA):c.1479+9_1479+25del
|
rs1325169012
|
|
NM_000182.5(HADHA):c.147G>A (p.Val49=)
|
rs2147785494
|
|
NM_000182.5(HADHA):c.1480-10C>T
|
|
|
NM_000182.5(HADHA):c.1480-12T>C
|
|
|
NM_000182.5(HADHA):c.1480-15G>T
|
|
|
NM_000182.5(HADHA):c.1480-20C>T
|
|
|
NM_000182.5(HADHA):c.1480-8C>T
|
rs1574603649
|
|
NM_000182.5(HADHA):c.1482G>T (p.Val494=)
|
|
|
NM_000182.5(HADHA):c.1497C>T (p.Tyr499=)
|
rs373104835
|
|
NM_000182.5(HADHA):c.1503T>G (p.Ser501=)
|
|
|
NM_000182.5(HADHA):c.1506C>T (p.Pro502=)
|
rs1477172372
|
|
NM_000182.5(HADHA):c.1539G>T (p.Thr513=)
|
rs755287314
|
|
NM_000182.5(HADHA):c.1542C>G (p.Thr514=)
|
rs374189575
|
|
NM_000182.5(HADHA):c.1545G>A (p.Glu515=)
|
|
|
NM_000182.5(HADHA):c.1554C>G (p.Ser518=)
|
rs765162716
|
|
NM_000182.5(HADHA):c.1563C>T (p.Thr521=)
|
rs1574603522
|
|
NM_000182.5(HADHA):c.1566T>C (p.Ser522=)
|
rs2147753617
|
|
NM_000182.5(HADHA):c.157C>A (p.Arg53=)
|
rs147103714
|
|
NM_000182.5(HADHA):c.1581A>C (p.Ala527=)
|
rs2147753600
|
|
NM_000182.5(HADHA):c.1584T>C (p.Val528=)
|
rs2147753595
|
|
NM_000182.5(HADHA):c.1590C>T (p.Leu530=)
|
rs1250337326
|
|
NM_000182.5(HADHA):c.1614G>A (p.Val538=)
|
|
|
NM_000182.5(HADHA):c.1614G>T (p.Val538=)
|
|
|
NM_000182.5(HADHA):c.1620+11G>A
|
|
|
NM_000182.5(HADHA):c.1620+13A>G
|
|
|
NM_000182.5(HADHA):c.1620+19G>A
|
|
|
NM_000182.5(HADHA):c.1620+19G>C
|
|
|
NM_000182.5(HADHA):c.1620+20_1620+21del
|
rs1064794598
|
|
NM_000182.5(HADHA):c.1620+7G>A
|
rs2147753540
|
|
NM_000182.5(HADHA):c.1620+9C>T
|
rs772786562
|
|
NM_000182.5(HADHA):c.1621-18T>C
|
rs2147753134
|
|
NM_000182.5(HADHA):c.1621-20C>T
|
|
|
NM_000182.5(HADHA):c.1621-8del
|
rs1558315187
|
|
NM_000182.5(HADHA):c.1623T>C (p.Asp541=)
|
|
|
NM_000182.5(HADHA):c.162T>C (p.Ile54=)
|
rs1558331903
|
|
NM_000182.5(HADHA):c.1638T>C (p.Tyr546=)
|
rs779881707
|
|
NM_000182.5(HADHA):c.1656G>T (p.Ala552=)
|
rs541069396
|
|
NM_000182.5(HADHA):c.165C>T (p.Asn55=)
|
|
|
NM_000182.5(HADHA):c.1679G>A (p.Arg560Gln)
|
rs779324271
|
|
NM_000182.5(HADHA):c.1683C>T (p.Ile561=)
|
|
|
NM_000182.5(HADHA):c.1686C>G (p.Leu562=)
|
rs757813588
|
|
NM_000182.5(HADHA):c.1686C>T (p.Leu562=)
|
rs757813588
|
|
NM_000182.5(HADHA):c.1689+16C>T
|
|
|
NM_000182.5(HADHA):c.1689+18G>C
|
|
|
NM_000182.5(HADHA):c.1689+19_1689+20del
|
|
|
NM_000182.5(HADHA):c.1689+8T>C
|
rs576886917
|
|
NM_000182.5(HADHA):c.1690-16A>C
|
|
|
NM_000182.5(HADHA):c.1690-16A>G
|
|
|
NM_000182.5(HADHA):c.1690-17C>A
|
|
|
NM_000182.5(HADHA):c.1690-17C>T
|
|
|
NM_000182.5(HADHA):c.1690-19T>C
|
|
|
NM_000182.5(HADHA):c.1690-20C>G
|
|
|
NM_000182.5(HADHA):c.16G>A (p.Ala6Thr)
|
|
|
NM_000182.5(HADHA):c.1707G>A (p.Lys569=)
|
rs2147752219
|
|
NM_000182.5(HADHA):c.1731C>T (p.Ser577=)
|
rs1308806038
|
|
NM_000182.5(HADHA):c.1734T>C (p.Phe578=)
|
rs1343063543
|
|
NM_000182.5(HADHA):c.1743T>C (p.Pro581=)
|
rs1669579845
|
|
NM_000182.5(HADHA):c.1758A>G (p.Thr586=)
|
rs974621601
|
|
NM_000182.5(HADHA):c.1759C>T (p.Leu587=)
|
rs2147752154
|
|
NM_000182.5(HADHA):c.1761G>A (p.Leu587=)
|
|
|
NM_000182.5(HADHA):c.1770A>G (p.Glu590=)
|
rs2147752135
|
|
NM_000182.5(HADHA):c.1776T>C (p.Gly592=)
|
|
|
NM_000182.5(HADHA):c.177A>C (p.Ser59=)
|
rs1574627624
|
|
NM_000182.5(HADHA):c.1785A>T (p.Val595=)
|
rs2147752107
|
|
NM_000182.5(HADHA):c.17C>T (p.Ala6Val)
|
|
|
NM_000182.5(HADHA):c.180+14T>A
|
|
|
NM_000182.5(HADHA):c.180+20G>A
|
|
|
NM_000182.5(HADHA):c.180+7C>G
|
|
|
NM_000182.5(HADHA):c.1807C>T (p.Leu603=)
|
|
|
NM_000182.5(HADHA):c.181-15A>G
|
|
|
NM_000182.5(HADHA):c.181-17A>G
|
|
|
NM_000182.5(HADHA):c.181-8T>A
|
rs1670779458
|
|
NM_000182.5(HADHA):c.1828C>A (p.Arg610=)
|
rs267599303
|
|
NM_000182.5(HADHA):c.1830G>A (p.Arg610=)
|
|
|
NM_000182.5(HADHA):c.1833T>C (p.Phe611=)
|
|
|
NM_000182.5(HADHA):c.1854G>A (p.Leu618=)
|
|
|
NM_000182.5(HADHA):c.1857G>C (p.Leu619=)
|
|
|
NM_000182.5(HADHA):c.1863G>A (p.Gln621=)
|
rs1396271017
|
|
NM_000182.5(HADHA):c.1869G>A (p.Val623=)
|
rs2147751984
|
|
NM_000182.5(HADHA):c.1878C>T (p.Gly626=)
|
|
|
NM_000182.5(HADHA):c.1885+12C>G
|
|
|
NM_000182.5(HADHA):c.1885+14A>G
|
|
|
NM_000182.5(HADHA):c.1886-13T>G
|
|
|
NM_000182.5(HADHA):c.1886-14C>T
|
|
|
NM_000182.5(HADHA):c.1886-44_1886-18del
|
rs772436809
|
|
NM_000182.5(HADHA):c.1886-44_1886-18dup
|
|
|
NM_000182.5(HADHA):c.1886-7G>A
|
rs2147750524
|
|
NM_000182.5(HADHA):c.1890T>C (p.Arg630=)
|
rs1331075824
|
|
NM_000182.5(HADHA):c.189A>C (p.Thr63=)
|
rs748187062
|
|
NM_000182.5(HADHA):c.189A>T (p.Thr63=)
|
rs748187062
|
|
NM_000182.5(HADHA):c.1926T>C (p.Gly642=)
|
|
|
NM_000182.5(HADHA):c.192G>A (p.Leu64=)
|
rs2147784458
|
|
NM_000182.5(HADHA):c.1932G>A (p.Lys644=)
|
rs765574028
|
|
NM_000182.5(HADHA):c.1962T>C (p.Ser654=)
|
rs1669532360
|
|
NM_000182.5(HADHA):c.1971G>A (p.Ala657=)
|
rs570854524
|
|
NM_000182.5(HADHA):c.1983G>A (p.Leu661=)
|
rs2147750371
|
|
NM_000182.5(HADHA):c.2000+9G>T
|
rs200802583
|
|
NM_000182.5(HADHA):c.2001-10C>G
|
|
|
NM_000182.5(HADHA):c.2001-10C>T
|
rs1463681982
|
|
NM_000182.5(HADHA):c.2001-13T>C
|
|
|
NM_000182.5(HADHA):c.2001-14C>T
|
|
|
NM_000182.5(HADHA):c.2001-16C>G
|
|
|
NM_000182.5(HADHA):c.2001-18A>G
|
|
|
NM_000182.5(HADHA):c.2001-18_2001-16dup
|
|
|
NM_000182.5(HADHA):c.2001-4G>A
|
|
|
NM_000182.5(HADHA):c.2004A>T (p.Ser668=)
|
|
|
NM_000182.5(HADHA):c.2019C>T (p.Ile673=)
|
|
|
NM_000182.5(HADHA):c.202C>T (p.Leu68=)
|
|
|
NM_000182.5(HADHA):c.204A>G (p.Leu68=)
|
|
|
NM_000182.5(HADHA):c.2073G>A (p.Glu691=)
|
rs2147749350
|
|
NM_000182.5(HADHA):c.2076G>T (p.Gly692=)
|
|
|
NM_000182.5(HADHA):c.2085C>T (p.Ala695=)
|
|
|
NM_000182.5(HADHA):c.2091T>G (p.Pro697=)
|
rs2147749333
|
|
NM_000182.5(HADHA):c.2094A>G (p.Ala698=)
|
rs757938383
|
|
NM_000182.5(HADHA):c.2100A>G (p.Gly700=)
|
|
|
NM_000182.5(HADHA):c.2109A>G (p.Gly703=)
|
|
|
NM_000182.5(HADHA):c.2127C>G (p.Gly709=)
|
|
|
NM_000182.5(HADHA):c.213G>A (p.Glu71=)
|
rs532314552
|
|
NM_000182.5(HADHA):c.2146+12A>G
|
|
|
NM_000182.5(HADHA):c.2146+17G>A
|
|
|
NM_000182.5(HADHA):c.2146+19G>A
|
|
|
NM_000182.5(HADHA):c.2146+20A>C
|
|
|
NM_000182.5(HADHA):c.2146+9C>A
|
|
|
NM_000182.5(HADHA):c.2146+9C>G
|
|
|
NM_000182.5(HADHA):c.2147-10C>A
|
|
|
NM_000182.5(HADHA):c.2147-12_2147-11del
|
|
|
NM_000182.5(HADHA):c.2147-5T>C
|
rs2147748983
|
|
NM_000182.5(HADHA):c.2147-7_2147-6insGA
|
rs767103938
|
|
NM_000182.5(HADHA):c.2147-8C>T
|
|
|
NM_000182.5(HADHA):c.216C>T (p.Phe72=)
|
rs1670777856
|
|
NM_000182.5(HADHA):c.2172T>C (p.Tyr724=)
|
|
|
NM_000182.5(HADHA):c.2178C>T (p.Ala726=)
|
|
|
NM_000182.5(HADHA):c.217T>C (p.Ser73Pro)
|
|
|
NM_000182.5(HADHA):c.2193C>T (p.Asp731=)
|
|
|
NM_000182.5(HADHA):c.2194C>A (p.Arg732=)
|
|
|
NM_000182.5(HADHA):c.2196G>A (p.Arg732=)
|
|
|
NM_000182.5(HADHA):c.2199C>T (p.Leu733=)
|
|
|
NM_000182.5(HADHA):c.2202G>A (p.Lys734=)
|
rs2147748806
|
|
NM_000182.5(HADHA):c.2220T>C (p.Tyr740=)
|
rs142120825
|
|
NM_000182.5(HADHA):c.2235C>T (p.Thr745=)
|
|
|
NM_000182.5(HADHA):c.2241C>T (p.Cys747=)
|
|
|
NM_000182.5(HADHA):c.2259T>C (p.His753=)
|
rs1669489360
|
|
NM_000182.5(HADHA):c.2262T>C (p.Ala754=)
|
rs1423314926
|
|
NM_000182.5(HADHA):c.2265C>T (p.Asn755=)
|
rs2147748705
|
|
NM_000182.5(HADHA):c.2268C>T (p.Ser756=)
|
|
|
NM_000182.5(HADHA):c.2283C>T (p.Phe761=)
|
|
|
NM_000182.5(HADHA):c.2286C>T (p.Tyr762=)
|
rs2147748660
|
|
NM_000182.5(HADHA):c.2289G>A (p.Gln763=)
|
|
|
NM_000182.5(HADHA):c.2291G>A (p.Ter764=)
|
|
|
NM_000182.5(HADHA):c.243T>C (p.Ala81=)
|
|
|
NM_000182.5(HADHA):c.24C>A (p.Gly8=)
|
rs942208244
|
|
NM_000182.5(HADHA):c.258A>G (p.Arg86=)
|
|
|
NM_000182.5(HADHA):c.264C>G (p.Ala88=)
|
|
|
NM_000182.5(HADHA):c.276A>G (p.Ser92=)
|
|
|
NM_000182.5(HADHA):c.279A>G (p.Ser93=)
|
|
|
NM_000182.5(HADHA):c.291C>T (p.Cys97=)
|
|
|
NM_000182.5(HADHA):c.297T>C (p.Ile99=)
|
|
|
NM_000182.5(HADHA):c.300A>G (p.Ala100=)
|
rs1335136331
|
|
NM_000182.5(HADHA):c.303T>G (p.Gly101=)
|
rs1670773890
|
|
NM_000182.5(HADHA):c.306T>C (p.Ala102=)
|
|
|
NM_000182.5(HADHA):c.30C>A (p.Leu10=)
|
|
|
NM_000182.5(HADHA):c.30C>G (p.Leu10=)
|
rs1221423725
|
|
NM_000182.5(HADHA):c.314+11G>A
|
|
|
NM_000182.5(HADHA):c.314+12G>T
|
|
|
NM_000182.5(HADHA):c.314+14A>C
|
|
|
NM_000182.5(HADHA):c.314+15A>G
|
|
|
NM_000182.5(HADHA):c.314+17T>C
|
|
|
NM_000182.5(HADHA):c.314+18dup
|
rs2147784338
|
|
NM_000182.5(HADHA):c.314+19G>A
|
|
|
NM_000182.5(HADHA):c.314+8T>A
|
|
|
NM_000182.5(HADHA):c.315-16T>A
|
|
|
NM_000182.5(HADHA):c.327T>C (p.Ala109=)
|
|
|
NM_000182.5(HADHA):c.336C>A (p.Thr112=)
|
|
|
NM_000182.5(HADHA):c.33C>T (p.Ser11=)
|
rs1574631841
|
|
NM_000182.5(HADHA):c.345A>G (p.Glu115=)
|
|
|
NM_000182.5(HADHA):c.348A>G (p.Val116=)
|
rs2147782544
|
|
NM_000182.5(HADHA):c.36C>A (p.Arg12=)
|
rs2147789735
|
|
NM_000182.5(HADHA):c.384G>A (p.Glu128=)
|
|
|
NM_000182.5(HADHA):c.402A>G (p.Thr134=)
|
|
|
NM_000182.5(HADHA):c.411T>C (p.Ile137=)
|
rs1574625100
|
|
NM_000182.5(HADHA):c.432C>A (p.Ser144=)
|
rs2147782494
|
|
NM_000182.5(HADHA):c.432C>G (p.Ser144=)
|
rs2147782494
|
|
NM_000182.5(HADHA):c.453+12C>G
|
|
|
NM_000182.5(HADHA):c.453+14A>G
|
|
|
NM_000182.5(HADHA):c.453+14A>T
|
|
|
NM_000182.5(HADHA):c.453+20_453+22del
|
|
|
NM_000182.5(HADHA):c.453+9A>G
|
|
|
NM_000182.5(HADHA):c.454-12A>G
|
|
|
NM_000182.5(HADHA):c.454-12_454-11del
|
|
|
NM_000182.5(HADHA):c.454-13C>A
|
|
|
NM_000182.5(HADHA):c.454-17C>G
|
|
|
NM_000182.5(HADHA):c.454-5C>T
|
|
|
NM_000182.5(HADHA):c.454-8G>T
|
rs1175400236
|
|
NM_000182.5(HADHA):c.45C>T (p.Ala15=)
|
|
|
NM_000182.5(HADHA):c.501A>G (p.Thr167=)
|
|
|
NM_000182.5(HADHA):c.507A>G (p.Leu169=)
|
|
|
NM_000182.5(HADHA):c.513C>T (p.Thr171=)
|
|
|
NM_000182.5(HADHA):c.540A>G (p.Pro180=)
|
|
|
NM_000182.5(HADHA):c.546A>G (p.Ala182=)
|
|
|
NM_000182.5(HADHA):c.558A>G (p.Gln186=)
|
|
|
NM_000182.5(HADHA):c.564G>A (p.Leu188=)
|
rs2147781176
|
|
NM_000182.5(HADHA):c.567C>G (p.Pro189=)
|
|
|
NM_000182.5(HADHA):c.573+15C>T
|
|
|
NM_000182.5(HADHA):c.573+7C>G
|
|
|
NM_000182.5(HADHA):c.573+8T>C
|
rs2147781158
|
|
NM_000182.5(HADHA):c.574-13G>A
|
|
|
NM_000182.5(HADHA):c.574-13G>T
|
|
|
NM_000182.5(HADHA):c.574-17C>T
|
|
|
NM_000182.5(HADHA):c.574-4T>G
|
|
|
NM_000182.5(HADHA):c.574-4dup
|
rs763636903
|
|
NM_000182.5(HADHA):c.574-5G>A
|
rs1248416510
|
|
NM_000182.5(HADHA):c.574-6T>C
|
|
|
NM_000182.5(HADHA):c.574-9G>T
|
|
|
NM_000182.5(HADHA):c.57C>G (p.Leu19=)
|
|
|
NM_000182.5(HADHA):c.592T>C (p.Leu198=)
|
|
|
NM_000182.5(HADHA):c.594G>A (p.Leu198=)
|
|
|
NM_000182.5(HADHA):c.609T>G (p.Thr203=)
|
rs2147779949
|
|
NM_000182.5(HADHA):c.612T>A (p.Gly204=)
|
rs2147779944
|
|
NM_000182.5(HADHA):c.621T>C (p.Ile207=)
|
|
|
NM_000182.5(HADHA):c.624T>C (p.Arg208=)
|
rs2147779940
|
|
NM_000182.5(HADHA):c.627A>G (p.Ala209=)
|
|
|
NM_000182.5(HADHA):c.633G>A (p.Arg211=)
|
rs2147779928
|
|
NM_000182.5(HADHA):c.63C>T (p.Ser21=)
|
rs2147789695
|
|
NM_000182.5(HADHA):c.651G>T (p.Leu217=)
|
|
|
NM_000182.5(HADHA):c.654T>C (p.Val218=)
|
|
|
NM_000182.5(HADHA):c.661C>T (p.Leu221=)
|
rs1574623021
|
|
NM_000182.5(HADHA):c.669A>G (p.Glu223=)
|
rs748977241
|
|
NM_000182.5(HADHA):c.67+13C>G
|
|
|
NM_000182.5(HADHA):c.67+14G>A
|
|
|
NM_000182.5(HADHA):c.67+16G>C
|
|
|
NM_000182.5(HADHA):c.67+18G>A
|
|
|
NM_000182.5(HADHA):c.67+18G>T
|
|
|
NM_000182.5(HADHA):c.67+9T>C
|
|
|
NM_000182.5(HADHA):c.677-16G>T
|
|
|
NM_000182.5(HADHA):c.677-17T>A
|
|
|
NM_000182.5(HADHA):c.677-20T>C
|
|
|
NM_000182.5(HADHA):c.677-6T>C
|
rs2147770003
|
|
NM_000182.5(HADHA):c.677-9T>C
|
rs2147770005
|
|
NM_000182.5(HADHA):c.678A>C (p.Gly226=)
|
|
|
NM_000182.5(HADHA):c.68-12C>G
|
|
|
NM_000182.5(HADHA):c.68-12C>T
|
|
|
NM_000182.5(HADHA):c.68-14G>A
|
|
|
NM_000182.5(HADHA):c.68-16A>C
|
|
|
NM_000182.5(HADHA):c.68-18A>T
|
|
|
NM_000182.5(HADHA):c.68-4A>G
|
|
|
NM_000182.5(HADHA):c.68-7C>T
|
rs1670832440
|
|
NM_000182.5(HADHA):c.687A>G (p.Leu229=)
|
rs2147769994
|
|
NM_000182.5(HADHA):c.693T>C (p.Pro231=)
|
|
|
NM_000182.5(HADHA):c.72T>C (p.Tyr24=)
|
|
|
NM_000182.5(HADHA):c.744C>G (p.Ala248=)
|
|
|
NM_000182.5(HADHA):c.744C>T (p.Ala248=)
|
|
|
NM_000182.5(HADHA):c.750A>G (p.Gly250=)
|
|
|
NM_000182.5(HADHA):c.759T>C (p.Asp253=)
|
|
|
NM_000182.5(HADHA):c.774A>G (p.Pro258=)
|
rs2147769914
|
|
NM_000182.5(HADHA):c.790T>C (p.Leu264=)
|
|
|
NM_000182.5(HADHA):c.799+10A>C
|
rs2147769884
|
|
NM_000182.5(HADHA):c.799+13G>A
|
|
|
NM_000182.5(HADHA):c.799+18dup
|
|
|
NM_000182.5(HADHA):c.799+7A>G
|
|
|
NM_000182.5(HADHA):c.799+8T>A
|
rs1451443100
|
|
NM_000182.5(HADHA):c.800-16del
|
|
|
NM_000182.5(HADHA):c.800-20A>G
|
|
|
NM_000182.5(HADHA):c.800-9A>G
|
rs2147769623
|
|
NM_000182.5(HADHA):c.80G>T (p.Arg27Leu)
|
rs200145855
|
|
NM_000182.5(HADHA):c.81C>T (p.Arg27=)
|
|
|
NM_000182.5(HADHA):c.846T>A (p.Val282=)
|
rs1574615034
|
|
NM_000182.5(HADHA):c.849C>T (p.Tyr283=)
|
|
|
NM_000182.5(HADHA):c.870G>A (p.Val290=)
|
rs771022089
|
|
NM_000182.5(HADHA):c.879G>A (p.Gln293=)
|
|
|
NM_000182.5(HADHA):c.882T>A (p.Thr294=)
|
|
|
NM_000182.5(HADHA):c.882T>C (p.Thr294=)
|
rs769959246
|
|
NM_000182.5(HADHA):c.891T>A (p.Leu297=)
|
rs748396892
|
|
NM_000182.5(HADHA):c.918+15A>G
|
|
|
NM_000182.5(HADHA):c.918+16T>G
|
|
|
NM_000182.5(HADHA):c.918+20C>T
|
|
|
NM_000182.5(HADHA):c.919-10T>C
|
rs2147768564
|
|
NM_000182.5(HADHA):c.919-11A>G
|
|
|
NM_000182.5(HADHA):c.919-15T>G
|
|
|
NM_000182.5(HADHA):c.919-7T>G
|
rs2147768563
|
|
NM_000182.5(HADHA):c.930T>C (p.Thr310=)
|
rs1670129457
|
|
NM_000182.5(HADHA):c.93G>A (p.Gly31=)
|
rs2147785589
|
|
NM_000182.5(HADHA):c.954C>A (p.Ala318=)
|
|
|
NM_000182.5(HADHA):c.957T>C (p.Gly319=)
|
|
|
NM_000182.5(HADHA):c.975+12del
|
|
|
NM_000182.5(HADHA):c.975+17dup
|
|
|
NM_000182.5(HADHA):c.975+20A>G
|
|
|
NM_000182.5(HADHA):c.976-10T>A
|
|
|
NM_000182.5(HADHA):c.976-12T>C
|
|
|
NM_000182.5(HADHA):c.976-18T>C
|
|
|
NM_000182.5(HADHA):c.976-19A>C
|
rs2147766738
|
|
NM_000182.5(HADHA):c.976-20C>T
|
|
|
NM_000182.5(HADHA):c.984A>G (p.Gly328=)
|
|
|
NM_000182.5(HADHA):c.990T>C (p.Leu330=)
|
rs1433589314
|
|
NM_000182.5(HADHA):c.999C>A (p.Thr333=)
|
rs2147766687
|
|
NM_000187.4(HGD):c.1006+9C>T
|
|
|
NM_000187.4(HGD):c.1007-18C>T
|
|
|
NM_000187.4(HGD):c.1007-3del
|
rs1261269370
|
|
NM_000187.4(HGD):c.1068G>A (p.Gly356=)
|
rs1940648400
|
|
NM_000187.4(HGD):c.1080G>C (p.Gly360=)
|
rs752713602
|
|
NM_000187.4(HGD):c.1097G>A (p.Ser366Asn)
|
|
|
NM_000187.4(HGD):c.1098C>T (p.Ser366=)
|
|
|
NM_000187.4(HGD):c.1110C>T (p.Pro370=)
|
|
|
NM_000187.4(HGD):c.1188+7A>T
|
|
|
NM_000187.4(HGD):c.1188+8T>C
|
rs1940642048
|
|
NM_000187.4(HGD):c.1189-14G>A
|
|
|
NM_000187.4(HGD):c.1189-20C>G
|
|
|
NM_000187.4(HGD):c.1189-8T>A
|
rs2107483848
|
|
NM_000187.4(HGD):c.1191A>G (p.Ala397=)
|
|
|
NM_000187.4(HGD):c.1230G>A (p.Lys410=)
|
|
|
NM_000187.4(HGD):c.1242G>A (p.Lys414=)
|
|
|
NM_000187.4(HGD):c.1248C>T (p.Ser416=)
|
rs2107483728
|
|
NM_000187.4(HGD):c.1249A>C (p.Arg417=)
|
|
|
NM_000187.4(HGD):c.1275G>A (p.Lys425=)
|
|
|
NM_000187.4(HGD):c.1287A>T (p.Pro429=)
|
rs2107483639
|
|
NM_000187.4(HGD):c.1290C>T (p.Leu430=)
|
rs2107483622
|
|
NM_000187.4(HGD):c.1299C>T (p.His433=)
|
rs2107483607
|
|
NM_000187.4(HGD):c.1314C>T (p.Ser438=)
|
|
|
NM_000187.4(HGD):c.1320C>T (p.Asn440=)
|
|
|
NM_000187.4(HGD):c.132C>T (p.Leu44=)
|
rs1413985635
|
|
NM_000187.4(HGD):c.1332T>C (p.Pro444=)
|
|
|
NM_000187.4(HGD):c.15+15G>A
|
|
|
NM_000187.4(HGD):c.15+16A>T
|
|
|
NM_000187.4(HGD):c.15+8del
|
rs771784891
|
|
NM_000187.4(HGD):c.165C>T (p.Thr55=)
|
|
|
NM_000187.4(HGD):c.176+13G>C
|
|
|
NM_000187.4(HGD):c.176+14A>T
|
|
|
NM_000187.4(HGD):c.177-14_177-11del
|
|
|
NM_000187.4(HGD):c.177-16A>G
|
|
|
NM_000187.4(HGD):c.177-17T>C
|
|
|
NM_000187.4(HGD):c.177-18G>C
|
|
|
NM_000187.4(HGD):c.177-19T>C
|
|
|
NM_000187.4(HGD):c.177-4C>T
|
|
|
NM_000187.4(HGD):c.177-9T>C
|
rs2107548928
|
|
NM_000187.4(HGD):c.186T>C (p.Tyr62=)
|
|
|
NM_000187.4(HGD):c.18C>T (p.Tyr6=)
|
rs769728875
|
|
NM_000187.4(HGD):c.198T>C (p.Pro66=)
|
rs2107548808
|
|
NM_000187.4(HGD):c.210C>T (p.His70=)
|
|
|
NM_000187.4(HGD):c.216C>T (p.Pro72=)
|
|
|
NM_000187.4(HGD):c.225C>T (p.Ser75=)
|
rs2107548752
|
|
NM_000187.4(HGD):c.228T>C (p.Ile76=)
|
rs2107548724
|
|
NM_000187.4(HGD):c.237C>T (p.Gly79=)
|
|
|
NM_000187.4(HGD):c.243C>T (p.Val81=)
|
rs377043265
|
|
NM_000187.4(HGD):c.279C>T (p.Asn93=)
|
|
|
NM_000187.4(HGD):c.282+11C>T
|
|
|
NM_000187.4(HGD):c.283-13A>T
|
|
|
NM_000187.4(HGD):c.283-18T>C
|
|
|
NM_000187.4(HGD):c.283-20T>C
|
|
|
NM_000187.4(HGD):c.33G>C (p.Gly11=)
|
rs886415775
|
|
NM_000187.4(HGD):c.342+15T>A
|
|
|
NM_000187.4(HGD):c.342+16_342+17del
|
|
|
NM_000187.4(HGD):c.342+19C>T
|
|
|
NM_000187.4(HGD):c.342+20A>G
|
|
|
NM_000187.4(HGD):c.342+9G>T
|
rs1941376798
|
|
NM_000187.4(HGD):c.343-11G>T
|
|
|
NM_000187.4(HGD):c.343-11del
|
|
|
NM_000187.4(HGD):c.343-20_343-19del
|
|
|
NM_000187.4(HGD):c.343-6T>A
|
rs753344566
|
|
NM_000187.4(HGD):c.375A>T (p.Ile125=)
|
|
|
NM_000187.4(HGD):c.420C>T (p.Thr140=)
|
|
|
NM_000187.4(HGD):c.434+12A>G
|
|
|
NM_000187.4(HGD):c.434+13G>C
|
|
|
NM_000187.4(HGD):c.434+14T>C
|
|
|
NM_000187.4(HGD):c.434+19G>A
|
|
|
NM_000187.4(HGD):c.434+19G>T
|
|
|
NM_000187.4(HGD):c.434+20G>A
|
|
|
NM_000187.4(HGD):c.469+15C>G
|
|
|
NM_000187.4(HGD):c.470-11T>G
|
|
|
NM_000187.4(HGD):c.470-18C>T
|
|
|
NM_000187.4(HGD):c.470-5G>A
|
rs980173157
|
|
NM_000187.4(HGD):c.474G>A (p.Pro158=)
|
rs2293734
|
|
NM_000187.4(HGD):c.480A>G (p.Lys160=)
|
|
|
NM_000187.4(HGD):c.525G>A (p.Gln175=)
|
|
|
NM_000187.4(HGD):c.550-7A>C
|
|
|
NM_000187.4(HGD):c.550-9C>A
|
|
|
NM_000187.4(HGD):c.559C>A (p.Arg187=)
|
rs756255206
|
|
NM_000187.4(HGD):c.57T>G (p.Pro19=)
|
|
|
NM_000187.4(HGD):c.624T>C (p.Phe208=)
|
rs1576295648
|
|
NM_000187.4(HGD):c.633T>C (p.Pro211=)
|
|
|
NM_000187.4(HGD):c.649+13T>C
|
|
|
NM_000187.4(HGD):c.649+13T>G
|
|
|
NM_000187.4(HGD):c.649+18G>A
|
|
|
NM_000187.4(HGD):c.660C>G (p.Gly220=)
|
|
|
NM_000187.4(HGD):c.663G>A (p.Leu221=)
|
rs755921083
|
|
NM_000187.4(HGD):c.666C>G (p.Ala222=)
|
|
|
NM_000187.4(HGD):c.672T>C (p.Pro224=)
|
|
|
NM_000187.4(HGD):c.684G>A (p.Leu228=)
|
|
|
NM_000187.4(HGD):c.714A>G (p.Gln238=)
|
rs1194507329
|
|
NM_000187.4(HGD):c.717A>T (p.Val239=)
|
|
|
NM_000187.4(HGD):c.735C>T (p.Val245=)
|
|
|
NM_000187.4(HGD):c.756G>A (p.Lys252=)
|
|
|
NM_000187.4(HGD):c.774+17G>C
|
|
|
NM_000187.4(HGD):c.774+20A>C
|
|
|
NM_000187.4(HGD):c.774+7T>C
|
|
|
NM_000187.4(HGD):c.775-15G>A
|
|
|
NM_000187.4(HGD):c.775-15G>T
|
|
|
NM_000187.4(HGD):c.792T>C (p.Asn264=)
|
rs2107502799
|
|
NM_000187.4(HGD):c.831C>T (p.Tyr277=)
|
rs1940984085
|
|
NM_000187.4(HGD):c.852T>C (p.Val284=)
|
|
|
NM_000187.4(HGD):c.87+13A>G
|
|
|
NM_000187.4(HGD):c.87+7G>A
|
rs1576319604
|
|
NM_000187.4(HGD):c.87+8C>T
|
|
|
NM_000187.4(HGD):c.879+14C>T
|
|
|
NM_000187.4(HGD):c.879+14del
|
|
|
NM_000187.4(HGD):c.879+9G>A
|
rs915477284
|
|
NM_000187.4(HGD):c.88-20T>A
|
|
|
NM_000187.4(HGD):c.88-7G>T
|
rs759234521
|
|
NM_000187.4(HGD):c.880-20C>A
|
|
|
NM_000187.4(HGD):c.880-23_880-18del
|
|
|
NM_000187.4(HGD):c.880-4A>G
|
rs781667761
|
|
NM_000187.4(HGD):c.891T>C (p.Ile297=)
|
|
|
NM_000187.4(HGD):c.897A>G (p.Thr299=)
|
|
|
NM_000187.4(HGD):c.900A>G (p.Val300=)
|
|
|
NM_000187.4(HGD):c.948C>A (p.Val316=)
|
rs1576289221
|
|
NM_000187.4(HGD):c.960T>G (p.Pro320=)
|
rs2107498220
|
|
NM_000187.4(HGD):c.963A>G (p.Arg321=)
|
|
|
NM_000187.4(HGD):c.972T>G (p.Val324=)
|
|
|
NM_000187.4(HGD):c.999T>C (p.Tyr333=)
|
|
|
NM_000191.3(HMGCL):c.102A>G (p.Lys34=)
|
|
|
NM_000191.3(HMGCL):c.108G>C (p.Val36=)
|
|
|
NM_000191.3(HMGCL):c.121C>A (p.Arg41=)
|
|
|
NM_000191.3(HMGCL):c.123A>T (p.Arg41=)
|
rs2148425859
|
|
NM_000191.3(HMGCL):c.130C>T (p.Leu44=)
|
|
|
NM_000191.3(HMGCL):c.144+15G>T
|
|
|
NM_000191.3(HMGCL):c.144+16A>G
|
|
|
NM_000191.3(HMGCL):c.144+18C>G
|
|
|
NM_000191.3(HMGCL):c.144+20A>C
|
|
|
NM_000191.3(HMGCL):c.144+8T>G
|
rs2148425829
|
|
NM_000191.3(HMGCL):c.145-11C>G
|
|
|
NM_000191.3(HMGCL):c.145-16TC[3]
|
rs2148424266
|
|
NM_000191.3(HMGCL):c.145-19G>A
|
|
|
NM_000191.3(HMGCL):c.145-5T>A
|
|
|
NM_000191.3(HMGCL):c.145-6C>T
|
rs2148424258
|
|
NM_000191.3(HMGCL):c.145-7A>C
|
|
|
NM_000191.3(HMGCL):c.145-7A>G
|
|
|
NM_000191.3(HMGCL):c.145-9C>T
|
|
|
NM_000191.3(HMGCL):c.150C>A (p.Ile50=)
|
rs376705029
|
|
NM_000191.3(HMGCL):c.153A>G (p.Val51=)
|
|
|
NM_000191.3(HMGCL):c.171C>T (p.Ile57=)
|
rs2148424231
|
|
NM_000191.3(HMGCL):c.174G>A (p.Lys58=)
|
rs2148424227
|
|
NM_000191.3(HMGCL):c.177G>T (p.Leu59=)
|
rs1375512664
|
|
NM_000191.3(HMGCL):c.183C>T (p.Asp61=)
|
rs755922538
|
|
NM_000191.3(HMGCL):c.195A>G (p.Glu65=)
|
rs2148424193
|
|
NM_000191.3(HMGCL):c.21G>A (p.Ala7=)
|
rs751528960
|
|
NM_000191.3(HMGCL):c.21G>T (p.Ala7=)
|
|
|
NM_000191.3(HMGCL):c.225C>T (p.Ser75=)
|
rs1357942068
|
|
NM_000191.3(HMGCL):c.231G>A (p.Val77=)
|
|
|
NM_000191.3(HMGCL):c.24T>C (p.Leu8=)
|
rs2148428459
|
|
NM_000191.3(HMGCL):c.252+10A>G
|
|
|
NM_000191.3(HMGCL):c.252+10A>T
|
rs1194729820
|
|
NM_000191.3(HMGCL):c.252+12C>A
|
|
|
NM_000191.3(HMGCL):c.252+14C>T
|
|
|
NM_000191.3(HMGCL):c.252+18A>G
|
|
|
NM_000191.3(HMGCL):c.252+19T>C
|
|
|
NM_000191.3(HMGCL):c.252+8C>G
|
|
|
NM_000191.3(HMGCL):c.253-18G>A
|
|
|
NM_000191.3(HMGCL):c.253-7T>C
|
rs1391681111
|
|
NM_000191.3(HMGCL):c.274T>C (p.Leu92=)
|
|
|
NM_000191.3(HMGCL):c.27G>C (p.Pro9=)
|
|
|
NM_000191.3(HMGCL):c.315C>G (p.Val105=)
|
|
|
NM_000191.3(HMGCL):c.321C>A (p.Thr107=)
|
|
|
NM_000191.3(HMGCL):c.336C>A (p.Gly112=)
|
|
|
NM_000191.3(HMGCL):c.336C>G (p.Gly112=)
|
|
|
NM_000191.3(HMGCL):c.33A>G (p.Arg11=)
|
rs2148428444
|
|
NM_000191.3(HMGCL):c.33A>T (p.Arg11=)
|
|
|
NM_000191.3(HMGCL):c.348+14T>G
|
|
|
NM_000191.3(HMGCL):c.348+17_348+19del
|
|
|
NM_000191.3(HMGCL):c.348+20G>A
|
|
|
NM_000191.3(HMGCL):c.348+7_348+9dup
|
|
|
NM_000191.3(HMGCL):c.349-10A>G
|
rs755304948
|
|
NM_000191.3(HMGCL):c.349-15C>T
|
|
|
NM_000191.3(HMGCL):c.349-17C>G
|
|
|
NM_000191.3(HMGCL):c.349-19T>A
|
|
|
NM_000191.3(HMGCL):c.349-4G>A
|
|
|
NM_000191.3(HMGCL):c.349-8G>T
|
rs770814366
|
|
NM_000191.3(HMGCL):c.34C>T (p.Leu12=)
|
rs2148428443
|
|
NM_000191.3(HMGCL):c.357T>A (p.Ala119=)
|
rs2148422516
|
|
NM_000191.3(HMGCL):c.360A>T (p.Gly120=)
|
|
|
NM_000191.3(HMGCL):c.378C>T (p.Ile126=)
|
rs2148422513
|
|
NM_000191.3(HMGCL):c.402C>T (p.Phe134=)
|
rs11551767
|
|
NM_000191.3(HMGCL):c.405C>G (p.Thr135=)
|
|
|
NM_000191.3(HMGCL):c.408G>A (p.Lys136=)
|
|
|
NM_000191.3(HMGCL):c.411G>A (p.Lys137=)
|
|
|
NM_000191.3(HMGCL):c.414C>T (p.Asn138=)
|
|
|
NM_000191.3(HMGCL):c.423T>C (p.Cys141=)
|
rs2148422474
|
|
NM_000191.3(HMGCL):c.42C>T (p.Gly14=)
|
rs1638799252
|
|
NM_000191.3(HMGCL):c.456A>G (p.Ala152=)
|
rs2148422453
|
|
NM_000191.3(HMGCL):c.460C>T (p.Leu154=)
|
rs2148422448
|
|
NM_000191.3(HMGCL):c.468A>G (p.Ala156=)
|
rs1017877874
|
|
NM_000191.3(HMGCL):c.48G>C (p.Ala16=)
|
rs115611440
|
|
NM_000191.3(HMGCL):c.497+10A>G
|
|
|
NM_000191.3(HMGCL):c.497+13A>G
|
|
|
NM_000191.3(HMGCL):c.497+20T>A
|
|
|
NM_000191.3(HMGCL):c.498-12G>A
|
|
|
NM_000191.3(HMGCL):c.498-12G>C
|
|
|
NM_000191.3(HMGCL):c.498-16C>T
|
|
|
NM_000191.3(HMGCL):c.513T>C (p.Ala171=)
|
|
|
NM_000191.3(HMGCL):c.519C>T (p.Gly173=)
|
|
|
NM_000191.3(HMGCL):c.51C>A (p.Ser17=)
|
|
|
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.54C>G (p.Leu18=)
|
|
|
NM_000191.3(HMGCL):c.54C>T (p.Leu18=)
|
|
|
NM_000191.3(HMGCL):c.558T>A (p.Ala186=)
|
rs1638505746
|
|
NM_000191.3(HMGCL):c.561+13G>A
|
rs755556712
|
|
NM_000191.3(HMGCL):c.561+15C>A
|
|
|
NM_000191.3(HMGCL):c.561+19G>A
|
rs1239783360
|
|
NM_000191.3(HMGCL):c.561+7G>C
|
|
|
NM_000191.3(HMGCL):c.561+9A>G
|
|
|
NM_000191.3(HMGCL):c.562-12T>C
|
|
|
NM_000191.3(HMGCL):c.562-14G>A
|
|
|
NM_000191.3(HMGCL):c.562-14G>C
|
rs751368427
|
|
NM_000191.3(HMGCL):c.562-16C>T
|
|
|
NM_000191.3(HMGCL):c.562-18G>A
|
|
|
NM_000191.3(HMGCL):c.562-20G>C
|
|
|
NM_000191.3(HMGCL):c.562-8T>C
|
rs2148419215
|
|
NM_000191.3(HMGCL):c.564C>A (p.Val188=)
|
|
|
NM_000191.3(HMGCL):c.597G>A (p.Glu199=)
|
rs2148419180
|
|
NM_000191.3(HMGCL):c.60+10C>T
|
|
|
NM_000191.3(HMGCL):c.60+12G>T
|
|
|
NM_000191.3(HMGCL):c.60+20G>A
|
|
|
NM_000191.3(HMGCL):c.60+7G>C
|
|
|
NM_000191.3(HMGCL):c.60+7G>T
|
rs368461149
|
|
NM_000191.3(HMGCL):c.60+8C>A
|
|
|
NM_000191.3(HMGCL):c.61-11T>C
|
|
|
NM_000191.3(HMGCL):c.61-13T>C
|
|
|
NM_000191.3(HMGCL):c.61-14C>T
|
|
|
NM_000191.3(HMGCL):c.61-16C>T
|
|
|
NM_000191.3(HMGCL):c.61-4A>G
|
|
|
NM_000191.3(HMGCL):c.621T>G (p.Gly207=)
|
rs1638449170
|
|
NM_000191.3(HMGCL):c.627C>A (p.Gly209=)
|
|
|
NM_000191.3(HMGCL):c.627C>T (p.Gly209=)
|
|
|
NM_000191.3(HMGCL):c.630C>T (p.Thr210=)
|
rs886046313
|
|
NM_000191.3(HMGCL):c.652C>T (p.Leu218=)
|
rs779813777
|
|
NM_000191.3(HMGCL):c.663C>G (p.Val221=)
|
rs143884026
|
|
NM_000191.3(HMGCL):c.675G>A (p.Val225=)
|
rs1266803426
|
|
NM_000191.3(HMGCL):c.675G>C (p.Val225=)
|
|
|
NM_000191.3(HMGCL):c.687C>A (p.Ala229=)
|
rs1638447338
|
|
NM_000191.3(HMGCL):c.699C>T (p.His233=)
|
|
|
NM_000191.3(HMGCL):c.6A>T (p.Ala2=)
|
rs375969301
|
|
NM_000191.3(HMGCL):c.708C>T (p.Asp236=)
|
rs886046312
|
|
NM_000191.3(HMGCL):c.711C>G (p.Thr237=)
|
|
|
NM_000191.3(HMGCL):c.714T>C (p.Tyr238=)
|
|
|
NM_000191.3(HMGCL):c.72A>C (p.Ser24=)
|
rs2148425901
|
|
NM_000191.3(HMGCL):c.72A>G (p.Ser24=)
|
rs2148425901
|
|
NM_000191.3(HMGCL):c.732C>T (p.Asn244=)
|
|
|
NM_000191.3(HMGCL):c.735C>G (p.Thr245=)
|
rs202074025
|
|
NM_000191.3(HMGCL):c.735C>T (p.Thr245=)
|
|
|
NM_000191.3(HMGCL):c.736T>C (p.Leu246=)
|
rs143823689
|
|
NM_000191.3(HMGCL):c.745C>T (p.Leu249=)
|
|
|
NM_000191.3(HMGCL):c.750+14T>A
|
rs778868742
|
|
NM_000191.3(HMGCL):c.750+14T>C
|
|
|
NM_000191.3(HMGCL):c.750+14del
|
|
|
NM_000191.3(HMGCL):c.750+18C>T
|
|
|
NM_000191.3(HMGCL):c.750+19C>T
|
|
|
NM_000191.3(HMGCL):c.751-10A>G
|
|
|
NM_000191.3(HMGCL):c.751-11T>C
|
|
|
NM_000191.3(HMGCL):c.751-13C>G
|
|
|
NM_000191.3(HMGCL):c.751-15T>A
|
|
|
NM_000191.3(HMGCL):c.751-17C>T
|
|
|
NM_000191.3(HMGCL):c.751-4C>T
|
|
|
NM_000191.3(HMGCL):c.751-7T>C
|
|
|
NM_000191.3(HMGCL):c.751-8G>A
|
|
|
NM_000191.3(HMGCL):c.751-9T>C
|
|
|
NM_000191.3(HMGCL):c.759G>A (p.Val253=)
|
rs1570642400
|
|
NM_000191.3(HMGCL):c.765C>A (p.Val255=)
|
rs778296169
|
|
NM_000191.3(HMGCL):c.765C>G (p.Val255=)
|
rs778296169
|
|
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
|
rs778296169
|
|
NM_000191.3(HMGCL):c.771C>T (p.Asp257=)
|
rs1300668281
|
|
NM_000191.3(HMGCL):c.795C>G (p.Gly265=)
|
rs1488079271
|
|
NM_000191.3(HMGCL):c.795C>T (p.Gly265=)
|
rs1488079271
|
|
NM_000191.3(HMGCL):c.801C>T (p.Pro267=)
|
|
|
NM_000191.3(HMGCL):c.826T>C (p.Leu276=)
|
rs2148416982
|
|
NM_000191.3(HMGCL):c.840C>T (p.Asp280=)
|
|
|
NM_000191.3(HMGCL):c.841C>T (p.Leu281=)
|
rs1638363122
|
|
NM_000191.3(HMGCL):c.846C>T (p.Val282=)
|
rs2148416963
|
|
NM_000191.3(HMGCL):c.849C>T (p.Tyr283=)
|
|
|
NM_000191.3(HMGCL):c.862T>C (p.Leu288=)
|
|
|
NM_000191.3(HMGCL):c.876+14C>A
|
|
|
NM_000191.3(HMGCL):c.876+17C>G
|
|
|
NM_000191.3(HMGCL):c.876+19del
|
|
|
NM_000191.3(HMGCL):c.876+5_876+8dup
|
rs1261907415
|
|
NM_000191.3(HMGCL):c.876+7C>A
|
|
|
NM_000191.3(HMGCL):c.876+9A>G
|
|
|
NM_000191.3(HMGCL):c.877-11G>T
|
|
|
NM_000191.3(HMGCL):c.877-17T>C
|
|
|
NM_000191.3(HMGCL):c.877-17dup
|
|
|
NM_000191.3(HMGCL):c.888C>T (p.Leu296=)
|
|
|
NM_000191.3(HMGCL):c.894G>A (p.Lys298=)
|
|
|
NM_000191.3(HMGCL):c.897T>A (p.Leu299=)
|
rs992734996
|
|
NM_000191.3(HMGCL):c.909A>G (p.Gly303=)
|
|
|
NM_000191.3(HMGCL):c.915T>C (p.Phe305=)
|
|
|
NM_000191.3(HMGCL):c.918C>T (p.Ile306=)
|
rs2148415804
|
|
NM_000191.3(HMGCL):c.933C>T (p.Asn311=)
|
rs1194563406
|
|
NM_000191.3(HMGCL):c.93G>A (p.Lys31=)
|
|
|
NM_000191.3(HMGCL):c.942T>A (p.Thr314=)
|
|
|
NM_000191.3(HMGCL):c.960G>A (p.Gln320=)
|
|
|
NM_000191.3(HMGCL):c.966C>G (p.Thr322=)
|
|
|
NM_000191.3(HMGCL):c.969T>C (p.Cys323=)
|
rs2148415747
|
|
NM_000240.4(MAOA):c.1052+17T>G
|
|
|
NM_000240.4(MAOA):c.1053-10C>G
|
rs1601948966
|
|
NM_000240.4(MAOA):c.1106+15C>T
|
|
|
NM_000240.4(MAOA):c.1164+7A>C
|
|
|
NM_000240.4(MAOA):c.1215C>T (p.Gly405=)
|
|
|
NM_000240.4(MAOA):c.1299G>A (p.Ala433=)
|
|
|
NM_000240.4(MAOA):c.1375-14T>C
|
|
|
NM_000240.4(MAOA):c.1401C>T (p.Thr467=)
|
|
|
NM_000240.4(MAOA):c.1437+11T>C
|
|
|
NM_000240.4(MAOA):c.1449G>A (p.Ala483=)
|
|
|
NM_000240.4(MAOA):c.15G>A (p.Glu5=)
|
rs2147066663
|
|
NM_000240.4(MAOA):c.186C>T (p.Tyr62=)
|
|
|
NM_000240.4(MAOA):c.306+18C>A
|
|
|
NM_000240.4(MAOA):c.307-18T>C
|
|
|
NM_000240.4(MAOA):c.307-19G>C
|
|
|
NM_000240.4(MAOA):c.412-20G>A
|
|
|
NM_000240.4(MAOA):c.576G>T (p.Leu192=)
|
|
|
NM_000240.4(MAOA):c.73+19G>C
|
|
|
NM_000240.4(MAOA):c.732C>T (p.Val244=)
|
rs980804164
|
|
NM_000240.4(MAOA):c.74-6C>T
|
rs1196492976
|
|
NM_000240.4(MAOA):c.74-9T>A
|
|
|
NM_000240.4(MAOA):c.774G>A (p.Thr258=)
|
|
|
NM_000240.4(MAOA):c.796-15T>G
|
|
|
NM_000240.4(MAOA):c.796-9G>A
|
rs2033882536
|
|
NM_000240.4(MAOA):c.804C>T (p.Tyr268=)
|
|
|
NM_000240.4(MAOA):c.831G>A (p.Leu277=)
|
|
|
NM_000240.4(MAOA):c.933G>A (p.Lys311=)
|
|
|
NM_000254.3(MTR):c.1011T>A (p.Ala337=)
|
|
|
NM_000254.3(MTR):c.1029T>C (p.Pro343=)
|
|
|
NM_000254.3(MTR):c.1044C>G (p.Ala348=)
|
|
|
NM_000254.3(MTR):c.1075+12A>C
|
|
|
NM_000254.3(MTR):c.1075+14A>T
|
|
|
NM_000254.3(MTR):c.1076-11C>G
|
rs186367553
|
|
NM_000254.3(MTR):c.1076-19A>T
|
|
|
NM_000254.3(MTR):c.1076-20A>T
|
|
|
NM_000254.3(MTR):c.1076-9C>T
|
|
|
NM_000254.3(MTR):c.1077T>G (p.Gly359=)
|
rs745469748
|
|
NM_000254.3(MTR):c.1092G>A (p.Arg364=)
|
|
|
NM_000254.3(MTR):c.1095T>C (p.Ile365=)
|
|
|
NM_000254.3(MTR):c.1101G>A (p.Pro367=)
|
rs763018049
|
|
NM_000254.3(MTR):c.1164A>G (p.Lys388=)
|
|
|
NM_000254.3(MTR):c.1176A>C (p.Ala392=)
|
|
|
NM_000254.3(MTR):c.1176A>G (p.Ala392=)
|
|
|
NM_000254.3(MTR):c.1188+19C>T
|
|
|
NM_000254.3(MTR):c.1188+7A>G
|
|
|
NM_000254.3(MTR):c.1189-11T>C
|
rs2103148397
|
|
NM_000254.3(MTR):c.1189-14C>G
|
|
|
NM_000254.3(MTR):c.1189-18C>T
|
|
|
NM_000254.3(MTR):c.1189-20C>T
|
|
|
NM_000254.3(MTR):c.1189-7C>T
|
|
|
NM_000254.3(MTR):c.1197G>A (p.Leu399=)
|
|
|
NM_000254.3(MTR):c.1206C>T (p.Ala402=)
|
|
|
NM_000254.3(MTR):c.1239G>A (p.Leu413=)
|
|
|
NM_000254.3(MTR):c.1248C>T (p.Asn416=)
|
|
|
NM_000254.3(MTR):c.1264C>T (p.Leu422=)
|
|
|
NM_000254.3(MTR):c.1266A>G (p.Leu422=)
|
rs984927112
|
|
NM_000254.3(MTR):c.1269T>C (p.Asp423=)
|
|
|
NM_000254.3(MTR):c.126G>A (p.Gln42=)
|
|
|
NM_000254.3(MTR):c.1308T>G (p.Ala436=)
|
|
|
NM_000254.3(MTR):c.1311C>A (p.Ser437=)
|
|
|
NM_000254.3(MTR):c.1323C>T (p.Ile441=)
|
|
|
NM_000254.3(MTR):c.1326A>G (p.Ala442=)
|
|
|
NM_000254.3(MTR):c.1329+14T>C
|
|
|
NM_000254.3(MTR):c.1329+15_1329+16del
|
|
|
NM_000254.3(MTR):c.1329+16T>C
|
|
|
NM_000254.3(MTR):c.1329+16del
|
|
|
NM_000254.3(MTR):c.1329+19T>G
|
|
|
NM_000254.3(MTR):c.1329+9A>G
|
|
|
NM_000254.3(MTR):c.1330-10C>T
|
|
|
NM_000254.3(MTR):c.1330-12T>C
|
|
|
NM_000254.3(MTR):c.1330-5C>A
|
|
|
NM_000254.3(MTR):c.1335T>G (p.Pro445=)
|
|
|
NM_000254.3(MTR):c.1344C>T (p.Ile448=)
|
|
|
NM_000254.3(MTR):c.1350C>G (p.Ser450=)
|
|
|
NM_000254.3(MTR):c.135G>A (p.Lys45=)
|
rs747724978
|
|
NM_000254.3(MTR):c.1362T>G (p.Ala454=)
|
rs376684560
|
|
NM_000254.3(MTR):c.136C>T (p.Leu46=)
|
|
|
NM_000254.3(MTR):c.1377G>T (p.Gly459=)
|
|
|
NM_000254.3(MTR):c.1398G>A (p.Lys466=)
|
|
|
NM_000254.3(MTR):c.1404T>C (p.Ile468=)
|
|
|
NM_000254.3(MTR):c.1413C>T (p.Ser471=)
|
|
|
NM_000254.3(MTR):c.141C>T (p.Asn47=)
|
|
|
NM_000254.3(MTR):c.1420C>T (p.Leu474=)
|
|
|
NM_000254.3(MTR):c.1470G>A (p.Lys490=)
|
|
|
NM_000254.3(MTR):c.1488G>C (p.Val496=)
|
|
|
NM_000254.3(MTR):c.1491C>T (p.Val497=)
|
|
|
NM_000254.3(MTR):c.1497T>A (p.Ala499=)
|
|
|
NM_000254.3(MTR):c.1497T>C (p.Ala499=)
|
|
|
NM_000254.3(MTR):c.1497T>G (p.Ala499=)
|
|
|
NM_000254.3(MTR):c.1506A>G (p.Glu502=)
|
|
|
NM_000254.3(MTR):c.1515+14T>G
|
|
|
NM_000254.3(MTR):c.1515+16T>C
|
|
|
NM_000254.3(MTR):c.1515+17G>A
|
|
|
NM_000254.3(MTR):c.1516-11C>G
|
|
|
NM_000254.3(MTR):c.1516-11C>T
|
|
|
NM_000254.3(MTR):c.1516-5C>T
|
|
|
NM_000254.3(MTR):c.1516-6C>G
|
|
|
NM_000254.3(MTR):c.1516-6C>T
|
|
|
NM_000254.3(MTR):c.1516-7T>G
|
|
|
NM_000254.3(MTR):c.1518A>C (p.Ala506=)
|
|
|
NM_000254.3(MTR):c.1527A>T (p.Thr509=)
|
|
|
NM_000254.3(MTR):c.1530C>T (p.Asp510=)
|
|
|
NM_000254.3(MTR):c.1545G>A (p.Val515=)
|
|
|
NM_000254.3(MTR):c.1566G>T (p.Leu522=)
|
|
|
NM_000254.3(MTR):c.1575A>G (p.Lys525=)
|
rs199700767
|
|
NM_000254.3(MTR):c.1579C>T (p.Leu527=)
|
|
|
NM_000254.3(MTR):c.1581G>C (p.Leu527=)
|
|
|
NM_000254.3(MTR):c.1596T>C (p.Asn532=)
|
|
|
NM_000254.3(MTR):c.1614T>C (p.Pro538=)
|
|
|
NM_000254.3(MTR):c.1620C>T (p.Ile540=)
|
|
|
NM_000254.3(MTR):c.1647A>G (p.Glu549=)
|
rs1171736020
|
|
NM_000254.3(MTR):c.1656G>A (p.Leu552=)
|
|
|
NM_000254.3(MTR):c.1689C>A (p.Val563=)
|
|
|
NM_000254.3(MTR):c.1689C>T (p.Val563=)
|
|
|
NM_000254.3(MTR):c.1695+10G>A
|
|
|
NM_000254.3(MTR):c.1695+11G>A
|
|
|
NM_000254.3(MTR):c.1695+13A>G
|
|
|
NM_000254.3(MTR):c.1695+13A>T
|
|
|
NM_000254.3(MTR):c.1695+14T>C
|
|
|
NM_000254.3(MTR):c.1695+17T>G
|
|
|
NM_000254.3(MTR):c.1695+18C>T
|
|
|
NM_000254.3(MTR):c.1695+20C>T
|
|
|
NM_000254.3(MTR):c.1695+7G>A
|
|
|
NM_000254.3(MTR):c.1695+7G>T
|
rs183273480
|
|
NM_000254.3(MTR):c.1696-14A>G
|
|
|
NM_000254.3(MTR):c.1696-18T>C
|
rs2103252601
|
|
NM_000254.3(MTR):c.1696-19A>G
|
|
|
NM_000254.3(MTR):c.1696-4C>T
|
|
|
NM_000254.3(MTR):c.1696-5G>A
|
|
|
NM_000254.3(MTR):c.1696-5G>T
|
|
|
NM_000254.3(MTR):c.1696-6T>C
|
|
|
NM_000254.3(MTR):c.1701A>G (p.Thr567=)
|
|
|
NM_000254.3(MTR):c.1707T>A (p.Pro569=)
|
|
|
NM_000254.3(MTR):c.1714A>C (p.Arg572=)
|
|
|
NM_000254.3(MTR):c.1737C>T (p.Asn579=)
|
|
|
NM_000254.3(MTR):c.174T>C (p.Asp58=)
|
rs2103013970
|
|
NM_000254.3(MTR):c.1755A>T (p.Arg585=)
|
|
|
NM_000254.3(MTR):c.1758A>G (p.Gly586=)
|
|
|
NM_000254.3(MTR):c.177T>C (p.His59=)
|
|
|
NM_000254.3(MTR):c.1803T>C (p.His601=)
|
|
|
NM_000254.3(MTR):c.1812+10A>G
|
|
|
NM_000254.3(MTR):c.1812+12G>T
|
|
|
NM_000254.3(MTR):c.1812+15C>T
|
|
|
NM_000254.3(MTR):c.1812+16T>A
|
|
|
NM_000254.3(MTR):c.1812+17C>T
|
|
|
NM_000254.3(MTR):c.1813-11A>G
|
rs1289723374
|
|
NM_000254.3(MTR):c.1830G>T (p.Gly610=)
|
|
|
NM_000254.3(MTR):c.186G>A (p.Pro62=)
|
|
|
NM_000254.3(MTR):c.1878A>G (p.Glu626=)
|
|
|
NM_000254.3(MTR):c.18A>G (p.Gln6=)
|
|
|
NM_000254.3(MTR):c.1929T>G (p.Thr643=)
|
|
|
NM_000254.3(MTR):c.192A>G (p.Lys64=)
|
|
|
NM_000254.3(MTR):c.1953+11A>C
|
|
|
NM_000254.3(MTR):c.1953+12A>G
|
|
|
NM_000254.3(MTR):c.1953+13G>A
|
|
|
NM_000254.3(MTR):c.1953+15G>T
|
|
|
NM_000254.3(MTR):c.1953+18C>T
|
|
|
NM_000254.3(MTR):c.1953+19T>A
|
|
|
NM_000254.3(MTR):c.1953+20A>G
|
|
|
NM_000254.3(MTR):c.1953+9A>C
|
|
|
NM_000254.3(MTR):c.1954-11T>A
|
|
|
NM_000254.3(MTR):c.1954-12A>C
|
rs192346180
|
|
NM_000254.3(MTR):c.1954-19G>C
|
rs2103290480
|
|
NM_000254.3(MTR):c.1954-4T>C
|
|
|
NM_000254.3(MTR):c.1956T>C (p.Thr652=)
|
|
|
NM_000254.3(MTR):c.1965A>C (p.Thr655=)
|
|
|
NM_000254.3(MTR):c.2013C>A (p.Val671=)
|
|
|
NM_000254.3(MTR):c.2022C>T (p.Arg674=)
|
rs2103291244
|
|
NM_000254.3(MTR):c.2025T>C (p.Leu675=)
|
|
|
NM_000254.3(MTR):c.2037T>C (p.Leu679=)
|
|
|
NM_000254.3(MTR):c.2043+15C>T
|
|
|
NM_000254.3(MTR):c.2043+8A>G
|
|
|
NM_000254.3(MTR):c.2043+9C>T
|
rs2103291466
|
|
NM_000254.3(MTR):c.2044-11_2044-9del
|
rs542174711
|
|
NM_000254.3(MTR):c.2044-11dup
|
|
|
NM_000254.3(MTR):c.2044-12T>C
|
|
|
NM_000254.3(MTR):c.2044-17T>C
|
|
|
NM_000254.3(MTR):c.2044-19T>C
|
|
|
NM_000254.3(MTR):c.2044-20T>C
|
|
|
NM_000254.3(MTR):c.2044-4T>C
|
|
|
NM_000254.3(MTR):c.2044-7T>G
|
|
|
NM_000254.3(MTR):c.2044-8T>C
|
rs1664517879
|
|
NM_000254.3(MTR):c.2067G>A (p.Glu689=)
|
|
|
NM_000254.3(MTR):c.2076G>A (p.Glu692=)
|
|
|
NM_000254.3(MTR):c.2106C>T (p.Pro702=)
|
|
|
NM_000254.3(MTR):c.2109A>C (p.Arg703=)
|
|
|
NM_000254.3(MTR):c.2118T>C (p.Asn706=)
|
rs1664526437
|
|
NM_000254.3(MTR):c.2133C>T (p.Pro711=)
|
|
|
NM_000254.3(MTR):c.213T>C (p.Ser71=)
|
|
|
NM_000254.3(MTR):c.2163T>C (p.Asp721=)
|
|
|
NM_000254.3(MTR):c.2190A>G (p.Leu730=)
|
|
|
NM_000254.3(MTR):c.2193T>C (p.Pro731=)
|
|
|
NM_000254.3(MTR):c.2196+12A>C
|
rs1664530187
|
|
NM_000254.3(MTR):c.2196+13T>C
|
|
|
NM_000254.3(MTR):c.2196+15G>A
|
|
|
NM_000254.3(MTR):c.2196+17G>A
|
|
|
NM_000254.3(MTR):c.2196+17G>C
|
|
|
NM_000254.3(MTR):c.2196+19G>A
|
rs372533462
|
|
NM_000254.3(MTR):c.2197-18C>A
|
|
|
NM_000254.3(MTR):c.2197-18C>G
|
|
|
NM_000254.3(MTR):c.2197-5C>G
|
|
|
NM_000254.3(MTR):c.2197-6T>C
|
rs1328542941
|
|
NM_000254.3(MTR):c.2205G>A (p.Lys735=)
|
|
|
NM_000254.3(MTR):c.2211C>T (p.Ala737=)
|
|
|
NM_000254.3(MTR):c.2241T>A (p.Leu747=)
|
|
|
NM_000254.3(MTR):c.2244C>A (p.Ile748=)
|
|
|
NM_000254.3(MTR):c.2247T>G (p.Pro749=)
|
|
|
NM_000254.3(MTR):c.225T>G (p.Pro75=)
|
|
|
NM_000254.3(MTR):c.2268A>G (p.Glu756=)
|
|
|
NM_000254.3(MTR):c.2274C>A (p.Thr758=)
|
|
|
NM_000254.3(MTR):c.2286C>T (p.Asn762=)
|
|
|
NM_000254.3(MTR):c.2304+16C>A
|
|
|
NM_000254.3(MTR):c.2304+16C>T
|
|
|
NM_000254.3(MTR):c.2305-11T>C
|
|
|
NM_000254.3(MTR):c.2305-11T>G
|
|
|
NM_000254.3(MTR):c.2305-14G>T
|
|
|
NM_000254.3(MTR):c.2305-4C>T
|
|
|
NM_000254.3(MTR):c.2305-5T>C
|
|
|
NM_000254.3(MTR):c.2305-9C>T
|
|
|
NM_000254.3(MTR):c.2325C>A (p.Ile775=)
|
|
|
NM_000254.3(MTR):c.2325C>T (p.Ile775=)
|
|
|
NM_000254.3(MTR):c.2346C>T (p.Gly782=)
|
rs777213189
|
|
NM_000254.3(MTR):c.2355C>T (p.His785=)
|
|
|
NM_000254.3(MTR):c.237C>T (p.Tyr79=)
|
|
|
NM_000254.3(MTR):c.2385C>A (p.Val795=)
|
|
|
NM_000254.3(MTR):c.2403C>T (p.Phe801=)
|
|
|
NM_000254.3(MTR):c.2405+18del
|
|
|
NM_000254.3(MTR):c.2405+20C>G
|
|
|
NM_000254.3(MTR):c.2405+20C>T
|
|
|
NM_000254.3(MTR):c.2405+8A>G
|
rs886046221
|
|
NM_000254.3(MTR):c.2406-10T>C
|
|
|
NM_000254.3(MTR):c.2406-18C>G
|
|
|
NM_000254.3(MTR):c.2406-18C>T
|
|
|
NM_000254.3(MTR):c.2406-8T>G
|
|
|
NM_000254.3(MTR):c.2406-9G>C
|
|
|
NM_000254.3(MTR):c.240A>G (p.Gln80=)
|
|
|
NM_000254.3(MTR):c.2424C>G (p.Val808=)
|
|
|
NM_000254.3(MTR):c.2463C>T (p.Asp821=)
|
|
|
NM_000254.3(MTR):c.2473+17C>T
|
|
|
NM_000254.3(MTR):c.2473+20T>A
|
|
|
NM_000254.3(MTR):c.2473+9C>A
|
|
|
NM_000254.3(MTR):c.2474-10A>T
|
|
|
NM_000254.3(MTR):c.2474-15A>T
|
|
|
NM_000254.3(MTR):c.2474-17_2474-16inv
|
|
|
NM_000254.3(MTR):c.2474-18T>C
|
rs10925256
|
|
NM_000254.3(MTR):c.2474-18_2474-17insTA
|
|
|
NM_000254.3(MTR):c.2474-19_2474-17del
|
|
|
NM_000254.3(MTR):c.2474-19_2474-18insAA
|
|
|
NM_000254.3(MTR):c.2474-19_2474-18inv
|
|
|
NM_000254.3(MTR):c.2474-20_2474-19insA
|
rs1665333724
|
|
NM_000254.3(MTR):c.2474-9A>C
|
|
|
NM_000254.3(MTR):c.2487G>C (p.Leu829=)
|
|
|
NM_000254.3(MTR):c.249+11C>T
|
|
|
NM_000254.3(MTR):c.249+15G>T
|
|
|
NM_000254.3(MTR):c.249+16del
|
|
|
NM_000254.3(MTR):c.249+19C>G
|
|
|
NM_000254.3(MTR):c.249+20C>G
|
|
|
NM_000254.3(MTR):c.2490A>G (p.Ser830=)
|
|
|
NM_000254.3(MTR):c.2493A>G (p.Gly831=)
|
|
|
NM_000254.3(MTR):c.250-10C>G
|
|
|
NM_000254.3(MTR):c.250-12C>G
|
|
|
NM_000254.3(MTR):c.250-15A>C
|
|
|
NM_000254.3(MTR):c.250-4dup
|
|
|
NM_000254.3(MTR):c.2508C>G (p.Ser836=)
|
|
|
NM_000254.3(MTR):c.2514T>C (p.Asp838=)
|
|
|
NM_000254.3(MTR):c.2517A>G (p.Glu839=)
|
|
|
NM_000254.3(MTR):c.2523T>A (p.Ile841=)
|
|
|
NM_000254.3(MTR):c.2532C>T (p.Ala844=)
|
|
|
NM_000254.3(MTR):c.2535G>A (p.Lys845=)
|
|
|
NM_000254.3(MTR):c.2553T>G (p.Ala851=)
|
|
|
NM_000254.3(MTR):c.255C>T (p.Tyr85=)
|
|
|
NM_000254.3(MTR):c.2562T>C (p.Ile854=)
|
|
|
NM_000254.3(MTR):c.2565A>G (p.Pro855=)
|
|
|
NM_000254.3(MTR):c.2569T>C (p.Leu857=)
|
|
|
NM_000254.3(MTR):c.2574T>C (p.Ile858=)
|
|
|
NM_000254.3(MTR):c.2594+10A>G
|
|
|
NM_000254.3(MTR):c.2594+11C>T
|
|
|
NM_000254.3(MTR):c.2594+18G>A
|
rs1558329619
|
|
NM_000254.3(MTR):c.2594+19C>G
|
|
|
NM_000254.3(MTR):c.2594+20_2594+28dup
|
|
|
NM_000254.3(MTR):c.2595-8C>G
|
|
|
NM_000254.3(MTR):c.2595-8C>T
|
|
|
NM_000254.3(MTR):c.2598C>T (p.Thr866=)
|
|
|
NM_000254.3(MTR):c.2601C>T (p.His867=)
|
|
|
NM_000254.3(MTR):c.2631T>C (p.Ser877=)
|
|
|
NM_000254.3(MTR):c.2637T>C (p.Pro879=)
|
|
|
NM_000254.3(MTR):c.2664G>A (p.Lys888=)
|
|
|
NM_000254.3(MTR):c.2676+11G>A
|
|
|
NM_000254.3(MTR):c.2676+14C>G
|
|
|
NM_000254.3(MTR):c.2676+17A>C
|
|
|
NM_000254.3(MTR):c.2676+17A>G
|
|
|
NM_000254.3(MTR):c.2676+19A>G
|
|
|
NM_000254.3(MTR):c.2676+8G>T
|
|
|
NM_000254.3(MTR):c.2677-10dup
|
|
|
NM_000254.3(MTR):c.2677-13C>T
|
|
|
NM_000254.3(MTR):c.2677-15A>G
|
|
|
NM_000254.3(MTR):c.2677-5T>G
|
|
|
NM_000254.3(MTR):c.2682C>T (p.Ser894=)
|
|
|
NM_000254.3(MTR):c.270A>G (p.Ala90=)
|
|
|
NM_000254.3(MTR):c.2727C>A (p.Ile909=)
|
|
|
NM_000254.3(MTR):c.2760T>C (p.His920=)
|
|
|
NM_000254.3(MTR):c.2775+17G>A
|
|
|
NM_000254.3(MTR):c.2775+19T>G
|
|
|
NM_000254.3(MTR):c.2775+7G>A
|
|
|
NM_000254.3(MTR):c.2776-11T>G
|
|
|
NM_000254.3(MTR):c.2784A>G (p.Arg928=)
|
|
|
NM_000254.3(MTR):c.2787C>T (p.Tyr929=)
|
|
|
NM_000254.3(MTR):c.2794T>C (p.Leu932=)
|
|
|
NM_000254.3(MTR):c.2802A>G (p.Gln934=)
|
rs963291512
|
|
NM_000254.3(MTR):c.2805C>T (p.Ala935=)
|
|
|
NM_000254.3(MTR):c.2829T>C (p.Asp943=)
|
|
|
NM_000254.3(MTR):c.2851+13A>G
|
|
|
NM_000254.3(MTR):c.2851+8T>G
|
|
|
NM_000254.3(MTR):c.2852-11C>G
|
|
|
NM_000254.3(MTR):c.2852-13T>C
|
|
|
NM_000254.3(MTR):c.2852-15A>T
|
|
|
NM_000254.3(MTR):c.2852-17A>G
|
|
|
NM_000254.3(MTR):c.2852-18C>T
|
|
|
NM_000254.3(MTR):c.2852-4G>T
|
|
|
NM_000254.3(MTR):c.2852-7C>T
|
rs1233643439
|
|
NM_000254.3(MTR):c.2856G>A (p.Lys952=)
|
|
|
NM_000254.3(MTR):c.2862G>A (p.Thr954=)
|
|
|
NM_000254.3(MTR):c.2868T>C (p.Ile956=)
|
|
|
NM_000254.3(MTR):c.2874C>A (p.Thr958=)
|
|
|
NM_000254.3(MTR):c.2874C>T (p.Thr958=)
|
|
|
NM_000254.3(MTR):c.2892T>C (p.Tyr964=)
|
|
|
NM_000254.3(MTR):c.2898G>A (p.Leu966=)
|
|
|
NM_000254.3(MTR):c.2913C>T (p.Asp971=)
|
|
|
NM_000254.3(MTR):c.2919T>A (p.Ile973=)
|
|
|
NM_000254.3(MTR):c.2919T>C (p.Ile973=)
|
|
|
NM_000254.3(MTR):c.294T>C (p.Phe98=)
|
|
|
NM_000254.3(MTR):c.2967G>A (p.Pro989=)
|
|
|
NM_000254.3(MTR):c.2967G>T (p.Pro989=)
|
|
|
NM_000254.3(MTR):c.2970T>C (p.Asn990=)
|
|
|
NM_000254.3(MTR):c.2976C>T (p.Gly992=)
|
|
|
NM_000254.3(MTR):c.3007+15T>G
|
|
|
NM_000254.3(MTR):c.3007+20C>T
|
|
|
NM_000254.3(MTR):c.3007+7G>A
|
|
|
NM_000254.3(MTR):c.3008-13G>T
|
|
|
NM_000254.3(MTR):c.3008-15C>A
|
|
|
NM_000254.3(MTR):c.3008-19_3008-14del
|
|
|
NM_000254.3(MTR):c.3008-5A>G
|
|
|
NM_000254.3(MTR):c.3033T>C (p.Asp1011=)
|
|
|
NM_000254.3(MTR):c.3045T>C (p.Asn1015=)
|
|
|
NM_000254.3(MTR):c.3057A>G (p.Thr1019=)
|
rs1394740700
|
|
NM_000254.3(MTR):c.3093G>C (p.Val1031=)
|
|
|
NM_000254.3(MTR):c.3093G>T (p.Val1031=)
|
|
|
NM_000254.3(MTR):c.30A>G (p.Gln10=)
|
|
|
NM_000254.3(MTR):c.3114G>A (p.Gln1038=)
|
|
|
NM_000254.3(MTR):c.3132T>C (p.Ile1044=)
|
|
|
NM_000254.3(MTR):c.3168A>G (p.Ala1056=)
|
|
|
NM_000254.3(MTR):c.3174C>T (p.Pro1058=)
|
|
|
NM_000254.3(MTR):c.3180C>T (p.Ala1060=)
|
|
|
NM_000254.3(MTR):c.3192G>A (p.Gly1064=)
|
|
|
NM_000254.3(MTR):c.3198G>A (p.Arg1066=)
|
|
|
NM_000254.3(MTR):c.3204+11T>C
|
|
|
NM_000254.3(MTR):c.3204+14A>G
|
|
|
NM_000254.3(MTR):c.3204+20A>G
|
|
|
NM_000254.3(MTR):c.3205-12C>T
|
|
|
NM_000254.3(MTR):c.3205-13C>T
|
|
|
NM_000254.3(MTR):c.3205-15C>T
|
|
|
NM_000254.3(MTR):c.3205-16A>G
|
|
|
NM_000254.3(MTR):c.3205-18A>G
|
|
|
NM_000254.3(MTR):c.3205-7T>C
|
|
|
NM_000254.3(MTR):c.3205-8G>C
|
|
|
NM_000254.3(MTR):c.3205-9G>T
|
|
|
NM_000254.3(MTR):c.3213G>A (p.Lys1071=)
|
|
|
NM_000254.3(MTR):c.3225C>T (p.Ser1075=)
|
|
|
NM_000254.3(MTR):c.3228G>A (p.Thr1076=)
|
|
|
NM_000254.3(MTR):c.3234A>G (p.Pro1078=)
|
|
|
NM_000254.3(MTR):c.3243C>T (p.Cys1081=)
|
|
|
NM_000254.3(MTR):c.3258C>T (p.Ile1086=)
|
|
|
NM_000254.3(MTR):c.3273T>G (p.Ser1091=)
|
|
|
NM_000254.3(MTR):c.3276C>T (p.Gly1092=)
|
|
|
NM_000254.3(MTR):c.327C>T (p.Gly109=)
|
|
|
NM_000254.3(MTR):c.3295C>T (p.Leu1099=)
|
|
|
NM_000254.3(MTR):c.3303C>T (p.Ala1101=)
|
|
|
NM_000254.3(MTR):c.3306T>A (p.Val1102=)
|
|
|
NM_000254.3(MTR):c.3318G>A (p.Gly1106=)
|
|
|
NM_000254.3(MTR):c.3321A>C (p.Val1107=)
|
|
|
NM_000254.3(MTR):c.3321A>G (p.Val1107=)
|
|
|
NM_000254.3(MTR):c.3327G>A (p.Glu1109=)
|
|
|
NM_000254.3(MTR):c.3345G>A (p.Glu1115=)
|
|
|
NM_000254.3(MTR):c.3357C>T (p.Asp1119=)
|
|
|
NM_000254.3(MTR):c.3384G>T (p.Ala1128=)
|
|
|
NM_000254.3(MTR):c.3394C>A (p.Arg1132=)
|
|
|
NM_000254.3(MTR):c.34+11G>C
|
|
|
NM_000254.3(MTR):c.34+13C>T
|
|
|
NM_000254.3(MTR):c.34+14C>T
|
|
|
NM_000254.3(MTR):c.34+15C>T
|
|
|
NM_000254.3(MTR):c.34+16C>A
|
|
|
NM_000254.3(MTR):c.34+19C>T
|
|
|
NM_000254.3(MTR):c.34+9G>A
|
|
|
NM_000254.3(MTR):c.340-166A>C
|
|
|
NM_000254.3(MTR):c.340-20G>A
|
|
|
NM_000254.3(MTR):c.3405+17G>A
|
|
|
NM_000254.3(MTR):c.3405+19G>A
|
|
|
NM_000254.3(MTR):c.3405+21del
|
|
|
NM_000254.3(MTR):c.3405+6_3405+33dup
|
|
|
NM_000254.3(MTR):c.3406-12T>C
|
|
|
NM_000254.3(MTR):c.3406-4C>T
|
|
|
NM_000254.3(MTR):c.3414A>G (p.Ala1138=)
|
|
|
NM_000254.3(MTR):c.3444A>G (p.Glu1148=)
|
|
|
NM_000254.3(MTR):c.3453C>G (p.Ala1151=)
|
|
|
NM_000254.3(MTR):c.3465T>C (p.Ser1155=)
|
|
|
NM_000254.3(MTR):c.3480C>T (p.Val1160=)
|
|
|
NM_000254.3(MTR):c.35-12C>T
|
|
|
NM_000254.3(MTR):c.35-14del
|
|
|
NM_000254.3(MTR):c.3519G>A (p.Pro1173=)
|
|
|
NM_000254.3(MTR):c.3543C>T (p.Pro1181=)
|
|
|
NM_000254.3(MTR):c.3552C>G (p.Thr1184=)
|
rs760793648
|
|
NM_000254.3(MTR):c.3564C>T (p.Thr1188=)
|
|
|
NM_000254.3(MTR):c.3576C>G (p.Leu1192=)
|
|
|
NM_000254.3(MTR):c.3585C>T (p.Ile1195=)
|
|
|
NM_000254.3(MTR):c.3588G>A (p.Glu1196=)
|
|
|
NM_000254.3(MTR):c.3598+13A>C
|
|
|
NM_000254.3(MTR):c.3598+18G>A
|
|
|
NM_000254.3(MTR):c.3598+19C>T
|
|
|
NM_000254.3(MTR):c.3598+20G>A
|
|
|
NM_000254.3(MTR):c.3599-14G>A
|
|
|
NM_000254.3(MTR):c.3599-14G>C
|
|
|
NM_000254.3(MTR):c.3599-17T>C
|
|
|
NM_000254.3(MTR):c.3599-4C>T
|
|
|
NM_000254.3(MTR):c.3599-5T>C
|
|
|
NM_000254.3(MTR):c.3599-6C>G
|
rs2147960863
|
|
NM_000254.3(MTR):c.3599-8C>T
|
|
|
NM_000254.3(MTR):c.3600C>A (p.Gly1200=)
|
|
|
NM_000254.3(MTR):c.3624A>G (p.Ala1208=)
|
|
|
NM_000254.3(MTR):c.3630A>T (p.Ala1210=)
|
|
|
NM_000254.3(MTR):c.3693G>A (p.Gly1231=)
|
|
|
NM_000254.3(MTR):c.3699T>A (p.Ile1233=)
|
|
|
NM_000254.3(MTR):c.3711+10C>A
|
|
|
NM_000254.3(MTR):c.3711+10C>T
|
|
|
NM_000254.3(MTR):c.3711+15del
|
|
|
NM_000254.3(MTR):c.3711+20A>G
|
|
|
NM_000254.3(MTR):c.3711+22_3711+23del
|
|
|
NM_000254.3(MTR):c.3712-4G>A
|
|
|
NM_000254.3(MTR):c.3712-9C>A
|
|
|
NM_000254.3(MTR):c.3727T>C (p.Leu1243=)
|
|
|
NM_000254.3(MTR):c.3744T>G (p.Ser1248=)
|
|
|
NM_000254.3(MTR):c.3750T>C (p.Ala1250=)
|
|
|
NM_000254.3(MTR):c.375C>T (p.Ala125=)
|
|
|
NM_000254.3(MTR):c.3762A>G (p.Lys1254=)
|
|
|
NM_000254.3(MTR):c.387C>A (p.Ala129=)
|
|
|
NM_000254.3(MTR):c.387C>T (p.Ala129=)
|
rs575706892
|
|
NM_000254.3(MTR):c.399T>C (p.Thr133=)
|
|
|
NM_000254.3(MTR):c.402C>T (p.Leu134=)
|
|
|
NM_000254.3(MTR):c.409+14T>G
|
|
|
NM_000254.3(MTR):c.409+15_409+17del
|
rs750828089
|
|
NM_000254.3(MTR):c.409+17T>C
|
|
|
NM_000254.3(MTR):c.426G>C (p.Val142=)
|
|
|
NM_000254.3(MTR):c.447T>A (p.Thr149=)
|
|
|
NM_000254.3(MTR):c.468C>T (p.Ser156=)
|
|
|
NM_000254.3(MTR):c.471A>G (p.Pro157=)
|
rs931152176
|
|
NM_000254.3(MTR):c.471A>T (p.Pro157=)
|
|
|
NM_000254.3(MTR):c.502+14A>G
|
|
|
NM_000254.3(MTR):c.502+16A>C
|
|
|
NM_000254.3(MTR):c.502+21_502+24dup
|
|
|
NM_000254.3(MTR):c.503-14T>C
|
|
|
NM_000254.3(MTR):c.503-15A>T
|
|
|
NM_000254.3(MTR):c.504A>C (p.Thr168=)
|
|
|
NM_000254.3(MTR):c.504A>G (p.Thr168=)
|
|
|
NM_000254.3(MTR):c.507T>C (p.Phe169=)
|
|
|
NM_000254.3(MTR):c.510T>C (p.Asp170=)
|
|
|
NM_000254.3(MTR):c.546A>G (p.Gly182=)
|
|
|
NM_000254.3(MTR):c.606C>T (p.Ala202=)
|
|
|
NM_000254.3(MTR):c.609+14G>C
|
|
|
NM_000254.3(MTR):c.609+14G>T
|
|
|
NM_000254.3(MTR):c.609+16A>G
|
|
|
NM_000254.3(MTR):c.610-12T>C
|
|
|
NM_000254.3(MTR):c.610-6T>C
|
rs769743026
|
|
NM_000254.3(MTR):c.610-6T>G
|
|
|
NM_000254.3(MTR):c.627C>A (p.Leu209=)
|
|
|
NM_000254.3(MTR):c.630A>G (p.Gln210=)
|
|
|
NM_000254.3(MTR):c.651T>C (p.Tyr217=)
|
|
|
NM_000254.3(MTR):c.660G>A (p.Arg220=)
|
|
|
NM_000254.3(MTR):c.669+12dup
|
|
|
NM_000254.3(MTR):c.670-11T>C
|
|
|
NM_000254.3(MTR):c.670-20T>C
|
|
|
NM_000254.3(MTR):c.670-20T>G
|
|
|
NM_000254.3(MTR):c.681G>A (p.Thr227=)
|
|
|
NM_000254.3(MTR):c.684C>A (p.Ile228=)
|
|
|
NM_000254.3(MTR):c.699G>A (p.Gly233=)
|
|
|
NM_000254.3(MTR):c.6A>G (p.Ser2=)
|
|
|
NM_000254.3(MTR):c.702G>A (p.Arg234=)
|
|
|
NM_000254.3(MTR):c.726G>A (p.Glu242=)
|
|
|
NM_000254.3(MTR):c.741C>T (p.Ser247=)
|
|
|
NM_000254.3(MTR):c.750T>C (p.His250=)
|
|
|
NM_000254.3(MTR):c.764+7G>A
|
|
|
NM_000254.3(MTR):c.765-12C>G
|
|
|
NM_000254.3(MTR):c.765-4C>T
|
|
|
NM_000254.3(MTR):c.765-5T>C
|
|
|
NM_000254.3(MTR):c.786G>A (p.Leu262=)
|
|
|
NM_000254.3(MTR):c.792A>G (p.Ala264=)
|
|
|
NM_000254.3(MTR):c.834A>G (p.Thr278=)
|
|
|
NM_000254.3(MTR):c.865+10T>C
|
|
|
NM_000254.3(MTR):c.865+12A>G
|
rs2103095649
|
|
NM_000254.3(MTR):c.865+18G>T
|
|
|
NM_000254.3(MTR):c.865+1GT[3]
|
rs2103095576
|
|
NM_000254.3(MTR):c.865+7G>T
|
|
|
NM_000254.3(MTR):c.866-13T>G
|
|
|
NM_000254.3(MTR):c.866-16A>C
|
|
|
NM_000254.3(MTR):c.866-6T>C
|
|
|
NM_000254.3(MTR):c.866-8T>C
|
|
|
NM_000254.3(MTR):c.873C>G (p.Pro291=)
|
|
|
NM_000254.3(MTR):c.879C>T (p.Thr293=)
|
|
|
NM_000254.3(MTR):c.888C>T (p.Asp296=)
|
|
|
NM_000254.3(MTR):c.894T>C (p.Asp298=)
|
|
|
NM_000254.3(MTR):c.900G>A (p.Thr300=)
|
|
|
NM_000254.3(MTR):c.906T>C (p.Ser302=)
|
|
|
NM_000254.3(MTR):c.915C>T (p.Ala305=)
|
|
|
NM_000254.3(MTR):c.924A>G (p.Leu308=)
|
|
|
NM_000254.3(MTR):c.927+10C>A
|
|
|
NM_000254.3(MTR):c.927+11C>A
|
|
|
NM_000254.3(MTR):c.927+18C>G
|
|
|
NM_000254.3(MTR):c.927+20C>T
|
|
|
NM_000254.3(MTR):c.927+20del
|
|
|
NM_000254.3(MTR):c.927+7G>A
|
|
|
NM_000254.3(MTR):c.928-18G>A
|
|
|
NM_000254.3(MTR):c.928-19T>G
|
|
|
NM_000254.3(MTR):c.928-9T>A
|
|
|
NM_000254.3(MTR):c.963A>C (p.Gly321=)
|
|
|
NM_000254.3(MTR):c.975G>A (p.Gly325=)
|
|
|
NM_000254.3(MTR):c.981A>C (p.Thr327=)
|
|
|
NM_000254.3(MTR):c.984A>G (p.Pro328=)
|
|
|
NM_000254.3(MTR):c.987T>C (p.Asp329=)
|
|
|
NM_000254.3(MTR):c.995+14A>G
|
|
|
NM_000254.3(MTR):c.995+19C>T
|
|
|
NM_000254.3(MTR):c.996-12C>T
|
|
|
NM_000254.3(MTR):c.996-14C>T
|
|
|
NM_000254.3(MTR):c.99G>A (p.Leu33=)
|
|
|
NM_000254.3(MTR):c.9C>T (p.Pro3=)
|
rs201975748
|
|
NM_000274.4(OAT):c.1008C>T (p.Ala336=)
|
|
|
NM_000274.4(OAT):c.1014+14C>G
|
|
|
NM_000274.4(OAT):c.1014+16G>A
|
|
|
NM_000274.4(OAT):c.1014+19A>C
|
|
|
NM_000274.4(OAT):c.1014+19A>G
|
|
|
NM_000274.4(OAT):c.1014+8C>T
|
|
|
NM_000274.4(OAT):c.1015-18A>C
|
|
|
NM_000274.4(OAT):c.1015-4G>A
|
rs1312077418
|
|
NM_000274.4(OAT):c.1015-4G>C
|
rs1312077418
|
|
NM_000274.4(OAT):c.1015-4G>T
|
|
|
NM_000274.4(OAT):c.1015-6A>C
|
rs561800688
|
|
NM_000274.4(OAT):c.1015-6del
|
|
|
NM_000274.4(OAT):c.1015-9dup
|
|
|
NM_000274.4(OAT):c.1017T>C (p.Val339=)
|
rs2134450954
|
|
NM_000274.4(OAT):c.102C>A (p.Val34=)
|
rs2134491030
|
|
NM_000274.4(OAT):c.102C>T (p.Val34=)
|
|
|
NM_000274.4(OAT):c.1032C>T (p.Asn344=)
|
rs2134450878
|
|
NM_000274.4(OAT):c.1035T>A (p.Leu345=)
|
rs1951391200
|
|
NM_000274.4(OAT):c.1035T>C (p.Leu345=)
|
rs1951391200
|
|
NM_000274.4(OAT):c.1050C>T (p.Asp350=)
|
rs2134450807
|
|
NM_000274.4(OAT):c.1053A>G (p.Lys351=)
|
rs757483886
|
|
NM_000274.4(OAT):c.1077A>G (p.Glu359=)
|
rs2134450629
|
|
NM_000274.4(OAT):c.1080C>G (p.Leu360=)
|
|
|
NM_000274.4(OAT):c.1089A>T (p.Leu363=)
|
rs1589697490
|
|
NM_000274.4(OAT):c.108C>T (p.Gly36=)
|
rs2134490957
|
|
NM_000274.4(OAT):c.1104A>G (p.Val368=)
|
|
|
NM_000274.4(OAT):c.111T>C (p.Pro37=)
|
|
|
NM_000274.4(OAT):c.1125A>G (p.Gly375=)
|
rs1589697304
|
|
NM_000274.4(OAT):c.1126T>C (p.Leu376=)
|
rs2134450338
|
|
NM_000274.4(OAT):c.1137T>C (p.Ala379=)
|
rs1390940241
|
|
NM_000274.4(OAT):c.1138A>G (p.Ile380Val)
|
rs545710763
|
|
NM_000274.4(OAT):c.114A>G (p.Pro38=)
|
|
|
NM_000274.4(OAT):c.1155C>A (p.Thr385=)
|
rs2134450152
|
|
NM_000274.4(OAT):c.1155C>T (p.Thr385=)
|
|
|
NM_000274.4(OAT):c.1159+10T>G
|
rs1589697164
|
|
NM_000274.4(OAT):c.1159+15C>T
|
|
|
NM_000274.4(OAT):c.1159+16A>C
|
|
|
NM_000274.4(OAT):c.1160-13T>C
|
|
|
NM_000274.4(OAT):c.1160-15A>G
|
|
|
NM_000274.4(OAT):c.1160-16T>A
|
rs2134440750
|
|
NM_000274.4(OAT):c.1160-20G>A
|
|
|
NM_000274.4(OAT):c.1160-43_1160-15del
|
|
|
NM_000274.4(OAT):c.1160-6del
|
rs2134440702
|
|
NM_000274.4(OAT):c.1179G>A (p.Val393=)
|
|
|
NM_000274.4(OAT):c.1186C>A (p.Arg396=)
|
rs121965036
|
|
NM_000274.4(OAT):c.1188A>G (p.Arg396=)
|
rs2134440491
|
|
NM_000274.4(OAT):c.1212C>G (p.Ala404=)
|
rs2134440359
|
|
NM_000274.4(OAT):c.1215G>A (p.Lys405=)
|
|
|
NM_000274.4(OAT):c.1221C>G (p.Thr407=)
|
|
|
NM_000274.4(OAT):c.1227C>A (p.Gly409=)
|
|
|
NM_000274.4(OAT):c.1227C>G (p.Gly409=)
|
|
|
NM_000274.4(OAT):c.1230C>T (p.Asp410=)
|
|
|
NM_000274.4(OAT):c.123T>C (p.Asp41=)
|
rs376051303
|
|
NM_000274.4(OAT):c.1252C>T (p.Leu418=)
|
|
|
NM_000274.4(OAT):c.1254G>A (p.Leu418=)
|
|
|
NM_000274.4(OAT):c.126C>T (p.Asp42=)
|
|
|
NM_000274.4(OAT):c.1276C>A (p.Arg426=)
|
|
|
NM_000274.4(OAT):c.1281G>A (p.Glu427=)
|
rs1589692099
|
|
NM_000274.4(OAT):c.1284C>G (p.Ser428=)
|
|
|
NM_000274.4(OAT):c.1284C>T (p.Ser428=)
|
rs762294532
|
|
NM_000274.4(OAT):c.1293T>A (p.Ile431=)
|
rs2134439830
|
|
NM_000274.4(OAT):c.1299C>T (p.Asn433=)
|
|
|
NM_000274.4(OAT):c.1305C>A (p.Thr435=)
|
rs528039246
|
|
NM_000274.4(OAT):c.1305C>T (p.Thr435=)
|
rs528039246
|
|
NM_000274.4(OAT):c.1309T>C (p.Leu437=)
|
|
|
NM_000274.4(OAT):c.1311G>A (p.Leu437=)
|
rs1800456
|
|
NM_000274.4(OAT):c.1314T>C (p.Ser438=)
|
|
|
NM_000274.4(OAT):c.141A>G (p.Glu47=)
|
|
|
NM_000274.4(OAT):c.159C>T (p.His53=)
|
|
|
NM_000274.4(OAT):c.162C>T (p.Asn54=)
|
|
|
NM_000274.4(OAT):c.174A>G (p.Leu58=)
|
rs1383903514
|
|
NM_000274.4(OAT):c.192A>G (p.Arg64=)
|
rs1329587046
|
|
NM_000274.4(OAT):c.199+17T>C
|
|
|
NM_000274.4(OAT):c.199+18C>T
|
|
|
NM_000274.4(OAT):c.199+19C>A
|
|
|
NM_000274.4(OAT):c.199+20G>T
|
rs746812237
|
|
NM_000274.4(OAT):c.199+20del
|
|
|
NM_000274.4(OAT):c.199+8T>A
|
|
|
NM_000274.4(OAT):c.199+9C>A
|
|
|
NM_000274.4(OAT):c.200-13T>A
|
|
|
NM_000274.4(OAT):c.200-14del
|
rs2134479102
|
|
NM_000274.4(OAT):c.200-6T>C
|
|
|
NM_000274.4(OAT):c.210A>G (p.Leu70=)
|
rs2134478994
|
|
NM_000274.4(OAT):c.219A>C (p.Val73=)
|
|
|
NM_000274.4(OAT):c.228A>G (p.Arg76=)
|
|
|
NM_000274.4(OAT):c.240C>T (p.Asp80=)
|
rs2134478924
|
|
NM_000274.4(OAT):c.24G>A (p.Leu8=)
|
rs1383131322
|
|
NM_000274.4(OAT):c.258T>C (p.Ser86=)
|
|
|
NM_000274.4(OAT):c.267C>T (p.Asn89=)
|
|
|
NM_000274.4(OAT):c.276T>C (p.His92=)
|
|
|
NM_000274.4(OAT):c.285C>T (p.Pro95=)
|
|
|
NM_000274.4(OAT):c.297T>C (p.Asn99=)
|
rs530768910
|
|
NM_000274.4(OAT):c.300T>C (p.Ala100=)
|
rs2134478568
|
|
NM_000274.4(OAT):c.301C>T (p.Leu101=)
|
rs2134478556
|
|
NM_000274.4(OAT):c.312A>G (p.Gln104=)
|
|
|
NM_000274.4(OAT):c.315G>C (p.Val105=)
|
rs780286690
|
|
NM_000274.4(OAT):c.336T>C (p.Ser112=)
|
rs2134478347
|
|
NM_000274.4(OAT):c.33T>C (p.Phe11=)
|
|
|
NM_000274.4(OAT):c.360T>C (p.Leu120=)
|
|
|
NM_000274.4(OAT):c.384T>C (p.Thr128=)
|
|
|
NM_000274.4(OAT):c.402C>T (p.His134=)
|
|
|
NM_000274.4(OAT):c.414T>C (p.Pro138=)
|
|
|
NM_000274.4(OAT):c.424+8A>G
|
rs2134477909
|
|
NM_000274.4(OAT):c.425-11T>C
|
|
|
NM_000274.4(OAT):c.425-20A>G
|
|
|
NM_000274.4(OAT):c.425-4A>G
|
|
|
NM_000274.4(OAT):c.425-5G>T
|
rs2134477497
|
|
NM_000274.4(OAT):c.435T>C (p.Ala145=)
|
rs764910542
|
|
NM_000274.4(OAT):c.435T>G (p.Ala145=)
|
rs764910542
|
|
NM_000274.4(OAT):c.447C>A (p.Ala149=)
|
rs1951667717
|
|
NM_000274.4(OAT):c.465G>A (p.Lys155=)
|
|
|
NM_000274.4(OAT):c.480G>A (p.Val160=)
|
rs2134477131
|
|
NM_000274.4(OAT):c.483G>A (p.Lys161=)
|
|
|
NM_000274.4(OAT):c.48C>A (p.Arg16=)
|
rs143526711
|
|
NM_000274.4(OAT):c.48C>G (p.Arg16=)
|
|
|
NM_000274.4(OAT):c.501A>G (p.Lys167=)
|
rs1951665213
|
|
NM_000274.4(OAT):c.504A>C (p.Ala168=)
|
rs138591022
|
|
NM_000274.4(OAT):c.504A>G (p.Ala168=)
|
rs138591022
|
|
NM_000274.4(OAT):c.516T>C (p.Phe172=)
|
rs2134476880
|
|
NM_000274.4(OAT):c.520+17A>G
|
|
|
NM_000274.4(OAT):c.521-6T>G
|
rs369018496
|
|
NM_000274.4(OAT):c.521-9C>T
|
|
|
NM_000274.4(OAT):c.531C>T (p.Phe177=)
|
|
|
NM_000274.4(OAT):c.538A>C (p.Arg180=)
|
rs2134465732
|
|
NM_000274.4(OAT):c.543G>T (p.Thr181=)
|
|
|
NM_000274.4(OAT):c.558C>T (p.Ser186=)
|
rs1589705355
|
|
NM_000274.4(OAT):c.561T>C (p.Ser187=)
|
|
|
NM_000274.4(OAT):c.567A>G (p.Thr189=)
|
rs2134465525
|
|
NM_000274.4(OAT):c.573A>G (p.Pro191=)
|
|
|
NM_000274.4(OAT):c.612C>T (p.Phe204=)
|
rs750055546
|
|
NM_000274.4(OAT):c.624C>T (p.Pro208=)
|
rs2134465205
|
|
NM_000274.4(OAT):c.627T>C (p.Tyr209=)
|
rs121965056
|
|
NM_000274.4(OAT):c.630T>C (p.Asn210=)
|
|
|
NM_000274.4(OAT):c.633T>C (p.Asp211=)
|
|
|
NM_000274.4(OAT):c.634C>T (p.Leu212=)
|
rs2134465097
|
|
NM_000274.4(OAT):c.636G>A (p.Leu212=)
|
|
|
NM_000274.4(OAT):c.63A>G (p.Ser21=)
|
|
|
NM_000274.4(OAT):c.642A>G (p.Ala214=)
|
|
|
NM_000274.4(OAT):c.648+13C>T
|
|
|
NM_000274.4(OAT):c.648+13_648+14inv
|
|
|
NM_000274.4(OAT):c.648+19A>C
|
|
|
NM_000274.4(OAT):c.648+20G>A
|
|
|
NM_000274.4(OAT):c.648+20G>T
|
|
|
NM_000274.4(OAT):c.648+8A>C
|
rs1951545729
|
|
NM_000274.4(OAT):c.649-13G>A
|
|
|
NM_000274.4(OAT):c.649-14T>C
|
|
|
NM_000274.4(OAT):c.649-5T>C
|
|
|
NM_000274.4(OAT):c.649-7T>A
|
rs773438111
|
|
NM_000274.4(OAT):c.672G>C (p.Val224=)
|
rs2134460257
|
|
NM_000274.4(OAT):c.678G>A (p.Ala226=)
|
rs1305977647
|
|
NM_000274.4(OAT):c.678G>C (p.Ala226=)
|
rs1305977647
|
|
NM_000274.4(OAT):c.678G>T (p.Ala226=)
|
rs1305977647
|
|
NM_000274.4(OAT):c.681C>T (p.Phe227=)
|
rs777909577
|
|
NM_000274.4(OAT):c.711C>G (p.Gly237=)
|
rs941484898
|
|
NM_000274.4(OAT):c.714T>A (p.Val238=)
|
|
|
NM_000274.4(OAT):c.717T>C (p.Val239=)
|
|
|
NM_000274.4(OAT):c.723G>A (p.Pro241=)
|
|
|
NM_000274.4(OAT):c.723G>C (p.Pro241=)
|
rs765113522
|
|
NM_000274.4(OAT):c.748C>A (p.Arg250=)
|
rs386833617
|
|
NM_000274.4(OAT):c.753G>A (p.Glu251=)
|
rs1589702393
|
|
NM_000274.4(OAT):c.756C>T (p.Leu252=)
|
|
|
NM_000274.4(OAT):c.75T>C (p.Ala25=)
|
rs1199534913
|
|
NM_000274.4(OAT):c.771+10T>C
|
rs2134459550
|
|
NM_000274.4(OAT):c.771+13G>A
|
|
|
NM_000274.4(OAT):c.771+14C>G
|
|
|
NM_000274.4(OAT):c.771+20G>A
|
|
|
NM_000274.4(OAT):c.771+8C>G
|
rs113532454
|
|
NM_000274.4(OAT):c.771+8_771+10dup
|
|
|
NM_000274.4(OAT):c.771+9G>A
|
rs756798690
|
|
NM_000274.4(OAT):c.772-20G>A
|
|
|
NM_000274.4(OAT):c.772-5A>G
|
|
|
NM_000274.4(OAT):c.772-9C>T
|
|
|
NM_000274.4(OAT):c.777C>T (p.Leu259=)
|
|
|
NM_000274.4(OAT):c.789T>C (p.Asp263=)
|
rs2134456663
|
|
NM_000274.4(OAT):c.807G>A (p.Leu269=)
|
rs2134456558
|
|
NM_000274.4(OAT):c.819T>A (p.Gly273=)
|
rs2134456505
|
|
NM_000274.4(OAT):c.834T>C (p.Val278=)
|
|
|
NM_000274.4(OAT):c.840T>C (p.Tyr280=)
|
|
|
NM_000274.4(OAT):c.843A>G (p.Glu281=)
|
|
|
NM_000274.4(OAT):c.864C>G (p.Val288=)
|
rs1951455108
|
|
NM_000274.4(OAT):c.864C>T (p.Val288=)
|
|
|
NM_000274.4(OAT):c.867C>T (p.Leu289=)
|
rs2134456266
|
|
NM_000274.4(OAT):c.876G>A (p.Lys292=)
|
|
|
NM_000274.4(OAT):c.879C>T (p.Ala293=)
|
rs1951454400
|
|
NM_000274.4(OAT):c.897C>T (p.Tyr299=)
|
|
|
NM_000274.4(OAT):c.900+10A>G
|
rs2134456121
|
|
NM_000274.4(OAT):c.900+12G>C
|
|
|
NM_000274.4(OAT):c.900+15C>A
|
|
|
NM_000274.4(OAT):c.900+20del
|
|
|
NM_000274.4(OAT):c.900+7T>C
|
rs2134456131
|
|
NM_000274.4(OAT):c.901-10T>C
|
rs376686600
|
|
NM_000274.4(OAT):c.901-10T>G
|
rs376686600
|
|
NM_000274.4(OAT):c.901-12A>T
|
rs1951421133
|
|
NM_000274.4(OAT):c.901-15T>C
|
|
|
NM_000274.4(OAT):c.901-20G>A
|
|
|
NM_000274.4(OAT):c.90T>G (p.Thr30=)
|
rs1250394805
|
|
NM_000274.4(OAT):c.915G>A (p.Leu305=)
|
|
|
NM_000274.4(OAT):c.924T>C (p.Asp308=)
|
rs2134453379
|
|
NM_000274.4(OAT):c.927C>T (p.Asp309=)
|
rs2134453354
|
|
NM_000274.4(OAT):c.93A>G (p.Lys31=)
|
rs1274789501
|
|
NM_000274.4(OAT):c.948A>C (p.Pro316=)
|
rs2134453303
|
|
NM_000274.4(OAT):c.966A>T (p.Thr322=)
|
rs1951417723
|
|
NM_000274.4(OAT):c.981A>T (p.Pro327=)
|
rs1365800165
|
|
NM_000274.4(OAT):c.982C>T (p.Leu328=)
|
|
|
NM_000274.4(OAT):c.984A>G (p.Leu328=)
|
rs755193146
|
|
NM_000276.4(OCRL):c.1056+19G>T
|
|
|
NM_000276.4(OCRL):c.1057-13C>A
|
|
|
NM_000276.4(OCRL):c.1057-19T>C
|
|
|
NM_000276.4(OCRL):c.1057-6T>G
|
|
|
NM_000276.4(OCRL):c.1057-7C>A
|
|
|
NM_000276.4(OCRL):c.1089A>G (p.Val363=)
|
|
|
NM_000276.4(OCRL):c.1095C>T (p.His365=)
|
|
|
NM_000276.4(OCRL):c.109G>A (p.Gly37Arg)
|
rs767054196
|
|
NM_000276.4(OCRL):c.1110C>T (p.Cys370=)
|
|
|
NM_000276.4(OCRL):c.1113T>C (p.Ile371=)
|
|
|
NM_000276.4(OCRL):c.1122C>T (p.Ser374=)
|
|
|
NM_000276.4(OCRL):c.114A>G (p.Gln38=)
|
|
|
NM_000276.4(OCRL):c.1155A>G (p.Arg385=)
|
|
|
NM_000276.4(OCRL):c.117T>C (p.Tyr39=)
|
|
|
NM_000276.4(OCRL):c.1185G>C (p.Ala395=)
|
|
|
NM_000276.4(OCRL):c.119+11A>G
|
|
|
NM_000276.4(OCRL):c.119+12C>T
|
|
|
NM_000276.4(OCRL):c.119+15G>C
|
|
|
NM_000276.4(OCRL):c.119+8dup
|
|
|
NM_000276.4(OCRL):c.120-17G>A
|
|
|
NM_000276.4(OCRL):c.120-5C>T
|
|
|
NM_000276.4(OCRL):c.1225T>C (p.Leu409=)
|
|
|
NM_000276.4(OCRL):c.1242T>C (p.His414=)
|
|
|
NM_000276.4(OCRL):c.1244+13_1244+38del
|
rs1465814805
|
|
NM_000276.4(OCRL):c.1244+13_1244+41delinsAAA
|
rs2124406244
|
|
NM_000276.4(OCRL):c.1244+14T>C
|
|
|
NM_000276.4(OCRL):c.1244+20_1244+26dup
|
|
|
NM_000276.4(OCRL):c.1244+8G>T
|
|
|
NM_000276.4(OCRL):c.1245-18C>T
|
|
|
NM_000276.4(OCRL):c.1245-20T>G
|
|
|
NM_000276.4(OCRL):c.1245-7T>C
|
|
|
NM_000276.4(OCRL):c.1281T>C (p.Leu427=)
|
|
|
NM_000276.4(OCRL):c.129C>T (p.Ile43=)
|
|
|
NM_000276.4(OCRL):c.12G>C (p.Pro4=)
|
|
|
NM_000276.4(OCRL):c.1320T>C (p.Asn440=)
|
|
|
NM_000276.4(OCRL):c.1329C>T (p.Asp443=)
|
|
|
NM_000276.4(OCRL):c.1341C>G (p.Leu447=)
|
|
|
NM_000276.4(OCRL):c.1350C>T (p.Phe450=)
|
|
|
NM_000276.4(OCRL):c.1353C>T (p.Asp451=)
|
|
|
NM_000276.4(OCRL):c.1356+17T>C
|
|
|
NM_000276.4(OCRL):c.1356+7A>G
|
|
|
NM_000276.4(OCRL):c.1357-10C>G
|
|
|
NM_000276.4(OCRL):c.1357-14C>T
|
|
|
NM_000276.4(OCRL):c.1359A>C (p.Leu453=)
|
|
|
NM_000276.4(OCRL):c.1374A>T (p.Thr458=)
|
|
|
NM_000276.4(OCRL):c.1380A>G (p.Lys460=)
|
|
|
NM_000276.4(OCRL):c.1386T>C (p.Ala462=)
|
|
|
NM_000276.4(OCRL):c.1389T>C (p.Phe463=)
|
|
|
NM_000276.4(OCRL):c.1399A>T (p.Asn467Tyr)
|
|
|
NM_000276.4(OCRL):c.1419C>T (p.Phe473=)
|
|
|
NM_000276.4(OCRL):c.1449A>C (p.Thr483=)
|
|
|
NM_000276.4(OCRL):c.1454G>A (p.Arg485Gln)
|
|
|
NM_000276.4(OCRL):c.1466+12A>G
|
|
|
NM_000276.4(OCRL):c.1466+20C>T
|
|
|
NM_000276.4(OCRL):c.1467-11T>G
|
|
|
NM_000276.4(OCRL):c.1467-12_1467-9dup
|
|
|
NM_000276.4(OCRL):c.1467-16G>A
|
|
|
NM_000276.4(OCRL):c.1467-16del
|
|
|
NM_000276.4(OCRL):c.1467-4dup
|
|
|
NM_000276.4(OCRL):c.1470G>A (p.Gly490=)
|
|
|
NM_000276.4(OCRL):c.1479G>A (p.Arg493=)
|
|
|
NM_000276.4(OCRL):c.1516A>G (p.Thr506Ala)
|
|
|
NM_000276.4(OCRL):c.1518A>G (p.Thr506=)
|
|
|
NM_000276.4(OCRL):c.1526A>C (p.Asn509Thr)
|
|
|
NM_000276.4(OCRL):c.1541G>A (p.Arg514Gln)
|
|
|
NM_000276.4(OCRL):c.1566C>T (p.Ser522=)
|
|
|
NM_000276.4(OCRL):c.1584C>T (p.Ser528=)
|
|
|
NM_000276.4(OCRL):c.15C>G (p.Leu5=)
|
|
|
NM_000276.4(OCRL):c.1602+15G>T
|
|
|
NM_000276.4(OCRL):c.1602+17A>T
|
rs2124412959
|
|
NM_000276.4(OCRL):c.1603-13C>T
|
|
|
NM_000276.4(OCRL):c.1603-20G>A
|
|
|
NM_000276.4(OCRL):c.1603-4T>C
|
|
|
NM_000276.4(OCRL):c.1626G>A (p.Arg542=)
|
|
|
NM_000276.4(OCRL):c.1631G>A (p.Arg544Gln)
|
|
|
NM_000276.4(OCRL):c.1653A>G (p.Val551=)
|
|
|
NM_000276.4(OCRL):c.165C>A (p.Ile55=)
|
|
|
NM_000276.4(OCRL):c.1666A>C (p.Arg556=)
|
|
|
NM_000276.4(OCRL):c.1710G>A (p.Arg570=)
|
|
|
NM_000276.4(OCRL):c.1713+7A>G
|
|
|
NM_000276.4(OCRL):c.1714-10T>C
|
|
|
NM_000276.4(OCRL):c.1714-14C>T
|
|
|
NM_000276.4(OCRL):c.1714-17T>C
|
|
|
NM_000276.4(OCRL):c.1714-18C>G
|
|
|
NM_000276.4(OCRL):c.1714-18C>T
|
|
|
NM_000276.4(OCRL):c.1714-4C>T
|
|
|
NM_000276.4(OCRL):c.1714-6C>T
|
|
|
NM_000276.4(OCRL):c.1714-7T>C
|
|
|
NM_000276.4(OCRL):c.1714-8T>C
|
|
|
NM_000276.4(OCRL):c.1714-9del
|
|
|
NM_000276.4(OCRL):c.1725A>G (p.Glu575=)
|
|
|
NM_000276.4(OCRL):c.1731G>A (p.Val577=)
|
|
|
NM_000276.4(OCRL):c.1739G>A (p.Arg580Gln)
|
|
|
NM_000276.4(OCRL):c.1758G>A (p.Lys586=)
|
|
|
NM_000276.4(OCRL):c.1764G>A (p.Gln588=)
|
|
|
NM_000276.4(OCRL):c.1775A>T (p.Asn592Ile)
|
|
|
NM_000276.4(OCRL):c.17C>G (p.Pro6Arg)
|
|
|
NM_000276.4(OCRL):c.17C>T (p.Pro6Leu)
|
|
|
NM_000276.4(OCRL):c.1812A>G (p.Lys604=)
|
|
|
NM_000276.4(OCRL):c.1821C>T (p.Asp607=)
|
|
|
NM_000276.4(OCRL):c.182A>G (p.His61Arg)
|
|
|
NM_000276.4(OCRL):c.183C>T (p.His61=)
|
|
|
NM_000276.4(OCRL):c.1863G>A (p.Glu621=)
|
|
|
NM_000276.4(OCRL):c.1879+19A>G
|
|
|
NM_000276.4(OCRL):c.1880-19A>G
|
|
|
NM_000276.4(OCRL):c.1880-7A>G
|
|
|
NM_000276.4(OCRL):c.1880-9A>C
|
|
|
NM_000276.4(OCRL):c.1887A>G (p.Thr629=)
|
|
|
NM_000276.4(OCRL):c.1893C>A (p.Asp631Glu)
|
|
|
NM_000276.4(OCRL):c.1905T>C (p.Asp635=)
|
|
|
NM_000276.4(OCRL):c.1926T>C (p.Ser642=)
|
|
|
NM_000276.4(OCRL):c.1956G>A (p.Lys652=)
|
|
|
NM_000276.4(OCRL):c.1971C>A (p.Leu657=)
|
|
|
NM_000276.4(OCRL):c.1971C>T (p.Leu657=)
|
|
|
NM_000276.4(OCRL):c.1974C>T (p.Val658=)
|
rs781410604
|
|
NM_000276.4(OCRL):c.199+10T>C
|
|
|
NM_000276.4(OCRL):c.199+20A>G
|
|
|
NM_000276.4(OCRL):c.200-11T>C
|
|
|
NM_000276.4(OCRL):c.200-4T>C
|
|
|
NM_000276.4(OCRL):c.200-7C>T
|
|
|
NM_000276.4(OCRL):c.2007G>A (p.Leu669=)
|
|
|
NM_000276.4(OCRL):c.2016T>C (p.Ser672=)
|
rs1012694347
|
|
NM_000276.4(OCRL):c.2049C>T (p.Ser683=)
|
|
|
NM_000276.4(OCRL):c.2058T>C (p.Ala686=)
|
|
|
NM_000276.4(OCRL):c.207A>G (p.Glu69=)
|
|
|
NM_000276.4(OCRL):c.2097T>G (p.Val699=)
|
|
|
NM_000276.4(OCRL):c.2106C>T (p.Leu702=)
|
|
|
NM_000276.4(OCRL):c.2112C>T (p.Asp704=)
|
|
|
NM_000276.4(OCRL):c.2115+15A>G
|
|
|
NM_000276.4(OCRL):c.2116-11T>A
|
rs2124426123
|
|
NM_000276.4(OCRL):c.2116-14T>C
|
|
|
NM_000276.4(OCRL):c.2116-16C>T
|
|
|
NM_000276.4(OCRL):c.2116-16_2116-12del
|
|
|
NM_000276.4(OCRL):c.2116-8G>A
|
|
|
NM_000276.4(OCRL):c.2132T>G (p.Leu711Arg)
|
|
|
NM_000276.4(OCRL):c.2136A>G (p.Glu712=)
|
|
|
NM_000276.4(OCRL):c.2139+13A>G
|
|
|
NM_000276.4(OCRL):c.2139+17G>A
|
|
|
NM_000276.4(OCRL):c.2139+20G>A
|
|
|
NM_000276.4(OCRL):c.2139+7C>T
|
|
|
NM_000276.4(OCRL):c.2139+9A>G
|
|
|
NM_000276.4(OCRL):c.2140-12T>C
|
|
|
NM_000276.4(OCRL):c.2140-18T>C
|
|
|
NM_000276.4(OCRL):c.2145A>G (p.Lys715=)
|
|
|
NM_000276.4(OCRL):c.2151T>G (p.Leu717=)
|
|
|
NM_000276.4(OCRL):c.2154G>T (p.Leu718=)
|
|
|
NM_000276.4(OCRL):c.2199G>A (p.Gln733=)
|
|
|
NM_000276.4(OCRL):c.21C>T (p.Val7=)
|
|
|
NM_000276.4(OCRL):c.2214C>T (p.Ile738=)
|
|
|
NM_000276.4(OCRL):c.2256+10_2256+11del
|
|
|
NM_000276.4(OCRL):c.2256+12T>C
|
|
|
NM_000276.4(OCRL):c.2256+17del
|
|
|
NM_000276.4(OCRL):c.2256+18T>C
|
|
|
NM_000276.4(OCRL):c.2256+20C>T
|
|
|
NM_000276.4(OCRL):c.2257-20C>A
|
|
|
NM_000276.4(OCRL):c.2277T>G (p.Pro759=)
|
|
|
NM_000276.4(OCRL):c.2314C>T (p.Leu772=)
|
|
|
NM_000276.4(OCRL):c.2341+11C>T
|
|
|
NM_000276.4(OCRL):c.2341+12G>A
|
rs756410458
|
|
NM_000276.4(OCRL):c.238+19G>A
|
|
|
NM_000276.4(OCRL):c.239-4T>A
|
|
|
NM_000276.4(OCRL):c.239-7T>C
|
|
|
NM_000276.4(OCRL):c.2392C>T (p.Leu798=)
|
|
|
NM_000276.4(OCRL):c.2469+12T>C
|
|
|
NM_000276.4(OCRL):c.2469+13G>A
|
|
|
NM_000276.4(OCRL):c.2469+17T>C
|
|
|
NM_000276.4(OCRL):c.2469+18G>A
|
|
|
NM_000276.4(OCRL):c.2469+8C>T
|
|
|
NM_000276.4(OCRL):c.2470-16C>G
|
|
|
NM_000276.4(OCRL):c.2470-9T>A
|
|
|
NM_000276.4(OCRL):c.2478C>T (p.Ser826=)
|
rs1936564599
|
|
NM_000276.4(OCRL):c.2487G>A (p.Pro829=)
|
|
|
NM_000276.4(OCRL):c.2490A>G (p.Arg830=)
|
|
|
NM_000276.4(OCRL):c.2510G>A (p.Arg837His)
|
|
|
NM_000276.4(OCRL):c.2523A>G (p.Ala841=)
|
|
|
NM_000276.4(OCRL):c.2529T>C (p.Leu843=)
|
|
|
NM_000276.4(OCRL):c.2531G>A (p.Arg844Gln)
|
|
|
NM_000276.4(OCRL):c.2535A>G (p.Glu845=)
|
|
|
NM_000276.4(OCRL):c.2553A>G (p.Glu851=)
|
|
|
NM_000276.4(OCRL):c.2556C>T (p.Tyr852=)
|
|
|
NM_000276.4(OCRL):c.2581+15T>G
|
|
|
NM_000276.4(OCRL):c.2581+16G>A
|
|
|
NM_000276.4(OCRL):c.2581+19A>C
|
|
|
NM_000276.4(OCRL):c.2582-10C>T
|
|
|
NM_000276.4(OCRL):c.2582-18C>T
|
|
|
NM_000276.4(OCRL):c.2586T>A (p.Thr862=)
|
|
|
NM_000276.4(OCRL):c.2607G>A (p.Leu869=)
|
|
|
NM_000276.4(OCRL):c.2613T>C (p.Pro871=)
|
|
|
NM_000276.4(OCRL):c.2627T>A (p.Met876Lys)
|
|
|
NM_000276.4(OCRL):c.265G>C (p.Asp89His)
|
|
|
NM_000276.4(OCRL):c.27C>T (p.Ala9=)
|
|
|
NM_000276.4(OCRL):c.283C>T (p.Arg95Cys)
|
|
|
NM_000276.4(OCRL):c.311G>C (p.Cys104Ser)
|
|
|
NM_000276.4(OCRL):c.318G>A (p.Lys106=)
|
|
|
NM_000276.4(OCRL):c.33G>A (p.Pro11=)
|
|
|
NM_000276.4(OCRL):c.349+12C>T
|
|
|
NM_000276.4(OCRL):c.349+16G>A
|
|
|
NM_000276.4(OCRL):c.349+17C>T
|
|
|
NM_000276.4(OCRL):c.349+18G>A
|
|
|
NM_000276.4(OCRL):c.350-10A>C
|
|
|
NM_000276.4(OCRL):c.350-14C>T
|
rs2124401607
|
|
NM_000276.4(OCRL):c.350-9TC[2]
|
rs1936081749
|
|
NM_000276.4(OCRL):c.384C>T (p.Asp128=)
|
|
|
NM_000276.4(OCRL):c.39+14A>C
|
|
|
NM_000276.4(OCRL):c.39+15G>A
|
|
|
NM_000276.4(OCRL):c.39+15G>C
|
|
|
NM_000276.4(OCRL):c.39+16_39+19del
|
|
|
NM_000276.4(OCRL):c.39+17A>C
|
|
|
NM_000276.4(OCRL):c.39+17A>G
|
|
|
NM_000276.4(OCRL):c.39+18G>C
|
|
|
NM_000276.4(OCRL):c.39+19G>A
|
|
|
NM_000276.4(OCRL):c.39+20G>C
|
|
|
NM_000276.4(OCRL):c.39+9C>G
|
rs1261991452
|
|
NM_000276.4(OCRL):c.393C>T (p.Ser131=)
|
|
|
NM_000276.4(OCRL):c.40-11A>G
|
|
|
NM_000276.4(OCRL):c.40-20C>T
|
|
|
NM_000276.4(OCRL):c.40-8G>A
|
|
|
NM_000276.4(OCRL):c.40-8G>T
|
|
|
NM_000276.4(OCRL):c.405A>G (p.Lys135=)
|
|
|
NM_000276.4(OCRL):c.411C>T (p.Asp137=)
|
|
|
NM_000276.4(OCRL):c.417G>A (p.Lys139=)
|
|
|
NM_000276.4(OCRL):c.423A>G (p.Lys141=)
|
|
|
NM_000276.4(OCRL):c.427T>C (p.Ser143Pro)
|
|
|
NM_000276.4(OCRL):c.431T>C (p.Val144Ala)
|
|
|
NM_000276.4(OCRL):c.432T>C (p.Val144=)
|
|
|
NM_000276.4(OCRL):c.439+10A>T
|
|
|
NM_000276.4(OCRL):c.439+11G>T
|
|
|
NM_000276.4(OCRL):c.439+15C>G
|
|
|
NM_000276.4(OCRL):c.439+15C>T
|
|
|
NM_000276.4(OCRL):c.439+7A>G
|
|
|
NM_000276.4(OCRL):c.439+9A>T
|
|
|
NM_000276.4(OCRL):c.440-15G>A
|
|
|
NM_000276.4(OCRL):c.471T>A (p.Ser157=)
|
rs747396791
|
|
NM_000276.4(OCRL):c.471T>G (p.Ser157=)
|
rs747396791
|
|
NM_000276.4(OCRL):c.474G>A (p.Met158Ile)
|
|
|
NM_000276.4(OCRL):c.510T>C (p.Pro170=)
|
|
|
NM_000276.4(OCRL):c.516G>T (p.Gly172=)
|
|
|
NM_000276.4(OCRL):c.560+10A>T
|
|
|
NM_000276.4(OCRL):c.560+19C>T
|
|
|
NM_000276.4(OCRL):c.560+8C>G
|
|
|
NM_000276.4(OCRL):c.561-17T>C
|
|
|
NM_000276.4(OCRL):c.568C>T (p.Arg190Cys)
|
|
|
NM_000276.4(OCRL):c.594G>A (p.Glu198=)
|
|
|
NM_000276.4(OCRL):c.639T>C (p.Asn213=)
|
|
|
NM_000276.4(OCRL):c.642C>G (p.Thr214=)
|
|
|
NM_000276.4(OCRL):c.660G>A (p.Glu220=)
|
|
|
NM_000276.4(OCRL):c.666C>T (p.Leu222=)
|
|
|
NM_000276.4(OCRL):c.671A>G (p.Lys224Arg)
|
|
|
NM_000276.4(OCRL):c.678C>T (p.Ile226=)
|
|
|
NM_000276.4(OCRL):c.67C>T (p.Pro23Ser)
|
|
|
NM_000276.4(OCRL):c.708C>T (p.Asn236=)
|
|
|
NM_000276.4(OCRL):c.722+11C>T
|
|
|
NM_000276.4(OCRL):c.723-14G>A
|
|
|
NM_000276.4(OCRL):c.723-15C>T
|
|
|
NM_000276.4(OCRL):c.75G>A (p.Arg25=)
|
|
|
NM_000276.4(OCRL):c.789C>T (p.Asn263=)
|
|
|
NM_000276.4(OCRL):c.78G>A (p.Glu26=)
|
|
|
NM_000276.4(OCRL):c.800A>G (p.Asn267Ser)
|
|
|
NM_000276.4(OCRL):c.801T>C (p.Asn267=)
|
|
|
NM_000276.4(OCRL):c.810T>C (p.Asp270=)
|
|
|
NM_000276.4(OCRL):c.820A>G (p.Ile274Val)
|
|
|
NM_000276.4(OCRL):c.825-19A>C
|
|
|
NM_000276.4(OCRL):c.825-20C>T
|
|
|
NM_000276.4(OCRL):c.831A>G (p.Gln277=)
|
|
|
NM_000276.4(OCRL):c.834A>G (p.Glu278=)
|
|
|
NM_000276.4(OCRL):c.876G>C (p.Val292=)
|
|
|
NM_000276.4(OCRL):c.888A>G (p.Glu296=)
|
rs2124404797
|
|
NM_000276.4(OCRL):c.939+7C>T
|
|
|
NM_000276.4(OCRL):c.940-11G>T
|
|
|
NM_000276.4(OCRL):c.940-15C>A
|
|
|
NM_000276.4(OCRL):c.940-4A>G
|
rs2124405755
|
|
NM_000276.4(OCRL):c.984C>G (p.Ala328=)
|
|
|
NM_000276.4(OCRL):c.99C>G (p.Ala33=)
|
|
|
NM_000277.3(PAH):c.1017C>T (p.Ser339=)
|
|
|
NM_000277.3(PAH):c.1023G>A (p.Lys341=)
|
|
|
NM_000277.3(PAH):c.1026A>C (p.Ala342=)
|
|
|
NM_000277.3(PAH):c.1029T>C (p.Tyr343=)
|
|
|
NM_000277.3(PAH):c.1032T>C (p.Gly344=)
|
|
|
NM_000277.3(PAH):c.1050C>A (p.Ser350=)
|
|
|
NM_000277.3(PAH):c.1050C>G (p.Ser350=)
|
rs2136636815
|
|
NM_000277.3(PAH):c.1062A>G (p.Leu354=)
|
rs2136636752
|
|
NM_000277.3(PAH):c.1065+15G>A
|
|
|
NM_000277.3(PAH):c.1065+16G>A
|
|
|
NM_000277.3(PAH):c.1065+20C>A
|
|
|
NM_000277.3(PAH):c.1065+20C>G
|
rs370258593
|
|
NM_000277.3(PAH):c.1065+20C>T
|
rs370258593
|
|
NM_000277.3(PAH):c.1065+7C>T
|
|
|
NM_000277.3(PAH):c.1065+8C>A
|
|
|
NM_000277.3(PAH):c.1065+8C>T
|
rs2136636719
|
|
NM_000277.3(PAH):c.1065+9T>G
|
rs1874730997
|
|
NM_000277.3(PAH):c.1066-14C>T
|
|
|
NM_000277.3(PAH):c.1066-16C>T
|
|
|
NM_000277.3(PAH):c.1066-19T>G
|
|
|
NM_000277.3(PAH):c.1066-31G>A
|
rs199475685
|
|
NM_000277.3(PAH):c.1066-5T>G
|
|
|
NM_000277.3(PAH):c.1066-7C>T
|
rs1242756437
|
|
NM_000277.3(PAH):c.1066-8G>C
|
|
|
NM_000277.3(PAH):c.1071C>T (p.Cys357=)
|
rs766107583
|
|
NM_000277.3(PAH):c.1080G>A (p.Glu360=)
|
|
|
NM_000277.3(PAH):c.1083G>A (p.Lys361=)
|
rs1874700949
|
|
NM_000277.3(PAH):c.1089G>A (p.Lys363=)
|
rs63329263
|
|
NM_000277.3(PAH):c.1092T>G (p.Leu364=)
|
rs1174053337
|
|
NM_000277.3(PAH):c.1095C>A (p.Leu365=)
|
|
|
NM_000277.3(PAH):c.1095C>T (p.Leu365=)
|
rs747661840
|
|
NM_000277.3(PAH):c.1098C>G (p.Pro366=)
|
|
|
NM_000277.3(PAH):c.1113G>A (p.Lys371=)
|
|
|
NM_000277.3(PAH):c.1134T>C (p.Thr378=)
|
rs1874693005
|
|
NM_000277.3(PAH):c.1134T>G (p.Thr378=)
|
rs1874693005
|
|
NM_000277.3(PAH):c.1143G>A (p.Glu381=)
|
rs2136635626
|
|
NM_000277.3(PAH):c.1152C>A (p.Pro384=)
|
|
|
NM_000277.3(PAH):c.1152C>G (p.Pro384=)
|
rs281865458
|
|
NM_000277.3(PAH):c.1155C>A (p.Leu385=)
|
rs772897
|
|
NM_000277.3(PAH):c.1158T>C (p.Tyr386=)
|
rs2136635574
|
|
NM_000277.3(PAH):c.1164G>C (p.Val388=)
|
|
|
NM_000277.3(PAH):c.1167A>G (p.Ala389=)
|
rs2136635539
|
|
NM_000277.3(PAH):c.1170G>A (p.Glu390=)
|
rs2136635531
|
|
NM_000277.3(PAH):c.1199+18G>A
|
|
|
NM_000277.3(PAH):c.1199+19T>C
|
|
|
NM_000277.3(PAH):c.1199+88C>T
|
|
|
NM_000277.3(PAH):c.1199+9G>C
|
|
|
NM_000277.3(PAH):c.1200-16G>A
|
|
|
NM_000277.3(PAH):c.1200-17T>G
|
|
|
NM_000277.3(PAH):c.1200-19C>A
|
|
|
NM_000277.3(PAH):c.1200-4T>A
|
rs2136632220
|
|
NM_000277.3(PAH):c.1200-8G>C
|
rs62507261
|
|
NM_000277.3(PAH):c.1200-8G>T
|
rs62507261
|
|
NM_000277.3(PAH):c.1200-9T>C
|
rs1329150180
|
|
NM_000277.3(PAH):c.1215A>G (p.Thr405=)
|
|
|
NM_000277.3(PAH):c.1221T>G (p.Pro407=)
|
|
|
NM_000277.3(PAH):c.1245C>T (p.Asp415=)
|
|
|
NM_000277.3(PAH):c.1248A>C (p.Pro416=)
|
rs1874540728
|
|
NM_000277.3(PAH):c.1248A>G (p.Pro416=)
|
|
|
NM_000277.3(PAH):c.1254C>A (p.Thr418=)
|
rs755787172
|
|
NM_000277.3(PAH):c.1257A>G (p.Gln419=)
|
rs2136632019
|
|
NM_000277.3(PAH):c.1266G>A (p.Glu422=)
|
|
|
NM_000277.3(PAH):c.1287G>A (p.Gln429=)
|
rs2136631945
|
|
NM_000277.3(PAH):c.1305T>C (p.Asp435=)
|
|
|
NM_000277.3(PAH):c.1315+10T>G
|
|
|
NM_000277.3(PAH):c.1315+13C>T
|
|
|
NM_000277.3(PAH):c.1315+14del
|
|
|
NM_000277.3(PAH):c.1315+16C>A
|
|
|
NM_000277.3(PAH):c.1315+17T>C
|
|
|
NM_000277.3(PAH):c.1315+7A>C
|
|
|
NM_000277.3(PAH):c.1315+9T>C
|
rs199979357
|
|
NM_000277.3(PAH):c.1316-11T>C
|
|
|
NM_000277.3(PAH):c.1316-17G>A
|
|
|
NM_000277.3(PAH):c.1316-8C>A
|
rs2136630870
|
|
NM_000277.3(PAH):c.1316-9T>C
|
|
|
NM_000277.3(PAH):c.1329C>A (p.Ile443=)
|
rs1285012083
|
|
NM_000277.3(PAH):c.1332T>G (p.Leu444=)
|
rs957481163
|
|
NM_000277.3(PAH):c.1341C>A (p.Ala447=)
|
rs2136630826
|
|
NM_000277.3(PAH):c.1344C>T (p.Leu448=)
|
rs747923532
|
|
NM_000277.3(PAH):c.1353A>C (p.Ile451=)
|
rs1440206706
|
|
NM_000277.3(PAH):c.135T>C (p.Val45=)
|
rs773425620
|
|
NM_000277.3(PAH):c.147C>G (p.Ala49=)
|
rs2136728129
|
|
NM_000277.3(PAH):c.153A>T (p.Val51=)
|
rs2136728110
|
|
NM_000277.3(PAH):c.159C>T (p.Arg53=)
|
rs2136728068
|
|
NM_000277.3(PAH):c.165T>C (p.Phe55=)
|
rs199475598
|
|
NM_000277.3(PAH):c.168+13A>G
|
|
|
NM_000277.3(PAH):c.168+14T>C
|
|
|
NM_000277.3(PAH):c.168+17T>C
|
|
|
NM_000277.3(PAH):c.168+18G>T
|
|
|
NM_000277.3(PAH):c.168+19T>G
|
|
|
NM_000277.3(PAH):c.169-10T>C
|
rs536596014
|
|
NM_000277.3(PAH):c.169-10T>G
|
rs536596014
|
|
NM_000277.3(PAH):c.169-16_169-15del
|
|
|
NM_000277.3(PAH):c.169-18C>A
|
|
|
NM_000277.3(PAH):c.169-5T>A
|
rs2136702231
|
|
NM_000277.3(PAH):c.169-8T>C
|
|
|
NM_000277.3(PAH):c.184C>T (p.Leu62=)
|
|
|
NM_000277.3(PAH):c.192C>T (p.His64=)
|
|
|
NM_000277.3(PAH):c.201T>G (p.Ser67=)
|
rs1368765465
|
|
NM_000277.3(PAH):c.204A>G (p.Arg68=)
|
|
|
NM_000277.3(PAH):c.21A>G (p.Glu7=)
|
rs2136734114
|
|
NM_000277.3(PAH):c.228G>A (p.Glu76=)
|
|
|
NM_000277.3(PAH):c.247T>C (p.Leu83=)
|
rs2136701833
|
|
NM_000277.3(PAH):c.261C>T (p.Ser87=)
|
rs62516151
|
|
NM_000277.3(PAH):c.264G>A (p.Leu88=)
|
|
|
NM_000277.3(PAH):c.27A>C (p.Pro9=)
|
|
|
NM_000277.3(PAH):c.285C>T (p.Ile95=)
|
rs1877427309
|
|
NM_000277.3(PAH):c.291C>T (p.Ile97=)
|
rs2136701670
|
|
NM_000277.3(PAH):c.297G>A (p.Arg99=)
|
|
|
NM_000277.3(PAH):c.303C>T (p.Asp101=)
|
|
|
NM_000277.3(PAH):c.309T>G (p.Gly103=)
|
rs2136701573
|
|
NM_000277.3(PAH):c.312C>T (p.Ala104=)
|
|
|
NM_000277.3(PAH):c.327T>C (p.Leu109=)
|
rs1229487239
|
|
NM_000277.3(PAH):c.339G>A (p.Lys113=)
|
|
|
NM_000277.3(PAH):c.342G>A (p.Lys114=)
|
rs2136701489
|
|
NM_000277.3(PAH):c.352+10A>C
|
rs559561517
|
|
NM_000277.3(PAH):c.352+16A>G
|
|
|
NM_000277.3(PAH):c.352+7A>C
|
|
|
NM_000277.3(PAH):c.352+7A>T
|
rs2136701430
|
|
NM_000277.3(PAH):c.353-14T>C
|
|
|
NM_000277.3(PAH):c.353-16C>T
|
|
|
NM_000277.3(PAH):c.353-18G>A
|
|
|
NM_000277.3(PAH):c.353-4T>G
|
rs2136679249
|
|
NM_000277.3(PAH):c.353-7G>A
|
rs2136679264
|
|
NM_000277.3(PAH):c.353-7G>T
|
rs2136679264
|
|
NM_000277.3(PAH):c.353-7_353-5dup
|
rs1452763334
|
|
NM_000277.3(PAH):c.353-8T>C
|
rs1174392751
|
|
NM_000277.3(PAH):c.357C>T (p.Pro119=)
|
rs2136679226
|
|
NM_000277.3(PAH):c.366A>G (p.Pro122=)
|
|
|
NM_000277.3(PAH):c.375T>C (p.Ile125=)
|
rs1028484259
|
|
NM_000277.3(PAH):c.381G>A (p.Glu127=)
|
rs767127989
|
|
NM_000277.3(PAH):c.39G>A (p.Arg13=)
|
|
|
NM_000277.3(PAH):c.420G>T (p.Ala140=)
|
rs200366386
|
|
NM_000277.3(PAH):c.432T>C (p.Ala144=)
|
|
|
NM_000277.3(PAH):c.435C>T (p.Asp145=)
|
|
|
NM_000277.3(PAH):c.441+10T>C
|
|
|
NM_000277.3(PAH):c.441+12G>A
|
rs767307581
|
|
NM_000277.3(PAH):c.441+16G>A
|
|
|
NM_000277.3(PAH):c.441+16G>T
|
|
|
NM_000277.3(PAH):c.441+18del
|
|
|
NM_000277.3(PAH):c.441+20G>T
|
|
|
NM_000277.3(PAH):c.441+8C>T
|
rs777613969
|
|
NM_000277.3(PAH):c.442-10T>C
|
|
|
NM_000277.3(PAH):c.442-14C>G
|
|
|
NM_000277.3(PAH):c.442-17T>C
|
|
|
NM_000277.3(PAH):c.442-4C>G
|
rs987125136
|
|
NM_000277.3(PAH):c.442-4C>T
|
|
|
NM_000277.3(PAH):c.442-7C>A
|
|
|
NM_000277.3(PAH):c.442-7C>T
|
|
|
NM_000277.3(PAH):c.447T>C (p.Phe149=)
|
rs770990005
|
|
NM_000277.3(PAH):c.456T>C (p.Pro152=)
|
rs377244118
|
|
NM_000277.3(PAH):c.45C>G (p.Leu15=)
|
|
|
NM_000277.3(PAH):c.462C>T (p.Tyr154=)
|
rs1191473722
|
|
NM_000277.3(PAH):c.465T>C (p.Arg155=)
|
|
|
NM_000277.3(PAH):c.471A>G (p.Arg157=)
|
|
|
NM_000277.3(PAH):c.474G>A (p.Arg158=)
|
rs2136663312
|
|
NM_000277.3(PAH):c.477G>A (p.Lys159=)
|
|
|
NM_000277.3(PAH):c.489C>T (p.Asp163=)
|
rs1315260421
|
|
NM_000277.3(PAH):c.495C>T (p.Ala165=)
|
rs1875979842
|
|
NM_000277.3(PAH):c.504C>T (p.Tyr168=)
|
|
|
NM_000277.3(PAH):c.509+15C>T
|
|
|
NM_000277.3(PAH):c.509+17T>C
|
|
|
NM_000277.3(PAH):c.509+19T>C
|
|
|
NM_000277.3(PAH):c.509+9del
|
|
|
NM_000277.3(PAH):c.510-10T>C
|
rs1256834291
|
|
NM_000277.3(PAH):c.510-14T>C
|
|
|
NM_000277.3(PAH):c.510-16T>G
|
rs2136649964
|
|
NM_000277.3(PAH):c.510-20A>G
|
|
|
NM_000277.3(PAH):c.510-7A>G
|
|
|
NM_000277.3(PAH):c.510-8T>C
|
|
|
NM_000277.3(PAH):c.510-9G>A
|
|
|
NM_000277.3(PAH):c.526C>A (p.Arg176=)
|
|
|
NM_000277.3(PAH):c.543G>A (p.Glu181=)
|
|
|
NM_000277.3(PAH):c.54T>C (p.Phe18=)
|
rs1878411076
|
|
NM_000277.3(PAH):c.567A>G (p.Thr189=)
|
rs1368976942
|
|
NM_000277.3(PAH):c.570G>A (p.Val190=)
|
rs2136649631
|
|
NM_000277.3(PAH):c.60+10G>A
|
rs1878409841
|
|
NM_000277.3(PAH):c.60+12C>T
|
|
|
NM_000277.3(PAH):c.60+17T>A
|
|
|
NM_000277.3(PAH):c.60+19A>G
|
|
|
NM_000277.3(PAH):c.60+7_60+12del
|
|
|
NM_000277.3(PAH):c.61-10T>C
|
|
|
NM_000277.3(PAH):c.61-13T>C
|
|
|
NM_000277.3(PAH):c.61-15C>A
|
|
|
NM_000277.3(PAH):c.61-15C>T
|
|
|
NM_000277.3(PAH):c.61-17T>C
|
|
|
NM_000277.3(PAH):c.61-19A>G
|
|
|
NM_000277.3(PAH):c.61-4G>A
|
|
|
NM_000277.3(PAH):c.61-4del
|
|
|
NM_000277.3(PAH):c.61-6C>T
|
rs2136728439
|
|
NM_000277.3(PAH):c.61-9A>C
|
|
|
NM_000277.3(PAH):c.61-9A>T
|
rs2136728443
|
|
NM_000277.3(PAH):c.615G>A (p.Glu205=)
|
|
|
NM_000277.3(PAH):c.651T>C (p.Cys217=)
|
rs2136649339
|
|
NM_000277.3(PAH):c.654C>G (p.Gly218=)
|
rs777465976
|
|
NM_000277.3(PAH):c.654C>T (p.Gly218=)
|
rs777465976
|
|
NM_000277.3(PAH):c.657C>T (p.Phe219=)
|
|
|
NM_000277.3(PAH):c.669C>T (p.Asn223=)
|
rs1875356807
|
|
NM_000277.3(PAH):c.66A>C (p.Thr22=)
|
rs2136728416
|
|
NM_000277.3(PAH):c.675C>T (p.Pro225=)
|
rs2136649258
|
|
NM_000277.3(PAH):c.679C>T (p.Leu227=)
|
|
|
NM_000277.3(PAH):c.706+11A>C
|
|
|
NM_000277.3(PAH):c.706+11A>T
|
|
|
NM_000277.3(PAH):c.706+12T>G
|
|
|
NM_000277.3(PAH):c.706+19C>A
|
|
|
NM_000277.3(PAH):c.706+8C>A
|
rs2136649125
|
|
NM_000277.3(PAH):c.706+8C>T
|
rs2136649125
|
|
NM_000277.3(PAH):c.706+9A>G
|
|
|
NM_000277.3(PAH):c.707-12T>C
|
|
|
NM_000277.3(PAH):c.707-17_707-14del
|
|
|
NM_000277.3(PAH):c.707-18T>C
|
rs779692890
|
|
NM_000277.3(PAH):c.707-18T>G
|
|
|
NM_000277.3(PAH):c.707-4C>A
|
|
|
NM_000277.3(PAH):c.707-8C>T
|
rs764946616
|
|
NM_000277.3(PAH):c.714T>A (p.Thr238=)
|
rs2136646476
|
|
NM_000277.3(PAH):c.714T>C (p.Thr238=)
|
|
|
NM_000277.3(PAH):c.72T>C (p.Tyr24=)
|
rs2136728385
|
|
NM_000277.3(PAH):c.732T>G (p.Pro244=)
|
|
|
NM_000277.3(PAH):c.742C>T (p.Leu248=)
|
|
|
NM_000277.3(PAH):c.750C>A (p.Ser250=)
|
rs1592953026
|
|
NM_000277.3(PAH):c.750C>T (p.Ser250=)
|
rs1592953026
|
|
NM_000277.3(PAH):c.754C>A (p.Arg252=)
|
|
|
NM_000277.3(PAH):c.756G>A (p.Arg252=)
|
rs1320172123
|
|
NM_000277.3(PAH):c.75T>C (p.Ile25=)
|
rs1592988950
|
|
NM_000277.3(PAH):c.771C>A (p.Gly257=)
|
rs544995045
|
|
NM_000277.3(PAH):c.774G>A (p.Leu258=)
|
rs2136646229
|
|
NM_000277.3(PAH):c.774G>T (p.Leu258=)
|
rs2136646229
|
|
NM_000277.3(PAH):c.783A>G (p.Arg261=)
|
rs2136646206
|
|
NM_000277.3(PAH):c.789C>T (p.Phe263=)
|
|
|
NM_000277.3(PAH):c.792C>T (p.His264=)
|
rs912042558
|
|
NM_000277.3(PAH):c.795C>T (p.Cys265=)
|
rs1231529155
|
|
NM_000277.3(PAH):c.801G>A (p.Gln267=)
|
rs199475675
|
|
NM_000277.3(PAH):c.807C>A (p.Ile269=)
|
|
|
NM_000277.3(PAH):c.816A>G (p.Gly272=)
|
|
|
NM_000277.3(PAH):c.81C>T (p.Asp27=)
|
rs1878258443
|
|
NM_000277.3(PAH):c.842+11T>C
|
|
|
NM_000277.3(PAH):c.842+20T>C
|
|
|
NM_000277.3(PAH):c.842+20T>G
|
|
|
NM_000277.3(PAH):c.843-11C>G
|
|
|
NM_000277.3(PAH):c.843-9G>C
|
rs2136645008
|
|
NM_000277.3(PAH):c.858G>A (p.Glu286=)
|
rs556021587
|
|
NM_000277.3(PAH):c.861G>T (p.Leu287=)
|
rs754686336
|
|
NM_000277.3(PAH):c.867A>T (p.Gly289=)
|
|
|
NM_000277.3(PAH):c.876C>A (p.Pro292=)
|
|
|
NM_000277.3(PAH):c.888T>C (p.Asp296=)
|
|
|
NM_000277.3(PAH):c.912+15T>G
|
|
|
NM_000277.3(PAH):c.912+20G>T
|
|
|
NM_000277.3(PAH):c.912+9T>C
|
|
|
NM_000277.3(PAH):c.913-18A>G
|
|
|
NM_000277.3(PAH):c.913-8A>C
|
|
|
NM_000277.3(PAH):c.913-9C>T
|
rs2136639713
|
|
NM_000277.3(PAH):c.921C>T (p.Gly307=)
|
rs920882128
|
|
NM_000277.3(PAH):c.927C>T (p.Ala309=)
|
rs1449406538
|
|
NM_000277.3(PAH):c.930T>C (p.Ser310=)
|
|
|
NM_000277.3(PAH):c.936T>A (p.Gly312=)
|
rs776778122
|
|
NM_000277.3(PAH):c.951C>T (p.Tyr317=)
|
rs2136639538
|
|
NM_000277.3(PAH):c.954T>C (p.Ile318=)
|
rs2136639524
|
|
NM_000277.3(PAH):c.969+14C>G
|
|
|
NM_000277.3(PAH):c.969+14C>T
|
|
|
NM_000277.3(PAH):c.969+16C>T
|
|
|
NM_000277.3(PAH):c.969+18C>T
|
|
|
NM_000277.3(PAH):c.969+19T>C
|
|
|
NM_000277.3(PAH):c.969+9C>G
|
rs1448283369
|
|
NM_000277.3(PAH):c.970-7A>T
|
rs745670264
|
|
NM_000277.3(PAH):c.990G>A (p.Glu330=)
|
|
|
NM_000277.3(PAH):c.993T>C (p.Phe331=)
|
|
|
NM_000277.3(PAH):c.999C>G (p.Leu333=)
|
rs777221457
|
|
NM_000277.3(PAH):c.999C>T (p.Leu333=)
|
rs777221457
|
|
NM_000281.4(PCBD1):c.102C>T (p.Ile34=)
|
|
|
NM_000281.4(PCBD1):c.111G>A (p.Gln37=)
|
|
|
NM_000281.4(PCBD1):c.126C>T (p.Asp42=)
|
|
|
NM_000281.4(PCBD1):c.135+12G>C
|
|
|
NM_000281.4(PCBD1):c.135+7C>T
|
|
|
NM_000281.4(PCBD1):c.136-11C>T
|
|
|
NM_000281.4(PCBD1):c.136-12C>G
|
|
|
NM_000281.4(PCBD1):c.136-16C>T
|
|
|
NM_000281.4(PCBD1):c.136-18C>T
|
|
|
NM_000281.4(PCBD1):c.141T>C (p.Phe47=)
|
|
|
NM_000281.4(PCBD1):c.162C>T (p.Ala54=)
|
|
|
NM_000281.4(PCBD1):c.165G>A (p.Leu55=)
|
|
|
NM_000281.4(PCBD1):c.189T>C (p.His63=)
|
|
|
NM_000281.4(PCBD1):c.216+15G>T
|
|
|
NM_000281.4(PCBD1):c.216+17G>A
|
|
|
NM_000281.4(PCBD1):c.217-11T>C
|
|
|
NM_000281.4(PCBD1):c.217-12G>A
|
|
|
NM_000281.4(PCBD1):c.217-12G>T
|
|
|
NM_000281.4(PCBD1):c.217-16T>G
|
|
|
NM_000281.4(PCBD1):c.222C>T (p.His74=)
|
|
|
NM_000281.4(PCBD1):c.24G>A (p.Leu8=)
|
|
|
NM_000281.4(PCBD1):c.252C>G (p.Gly84=)
|
|
|
NM_000281.4(PCBD1):c.252C>T (p.Gly84=)
|
|
|
NM_000281.4(PCBD1):c.262C>A (p.Arg88=)
|
|
|
NM_000281.4(PCBD1):c.270A>C (p.Ile90=)
|
|
|
NM_000281.4(PCBD1):c.288C>T (p.Ile96=)
|
|
|
NM_000281.4(PCBD1):c.3+11G>T
|
|
|
NM_000281.4(PCBD1):c.3+13G>T
|
|
|
NM_000281.4(PCBD1):c.3+14T>A
|
|
|
NM_000281.4(PCBD1):c.3+18C>T
|
|
|
NM_000281.4(PCBD1):c.3+9A>G
|
|
|
NM_000281.4(PCBD1):c.300A>C (p.Ala100=)
|
|
|
NM_000281.4(PCBD1):c.4-11C>T
|
|
|
NM_000281.4(PCBD1):c.4-18T>G
|
|
|
NM_000281.4(PCBD1):c.4-19G>C
|
|
|
NM_000281.4(PCBD1):c.4-21_4-20del
|
|
|
NM_000281.4(PCBD1):c.4-4C>G
|
rs1303323172
|
|
NM_000281.4(PCBD1):c.4-6T>C
|
|
|
NM_000281.4(PCBD1):c.4-7C>A
|
|
|
NM_000281.4(PCBD1):c.45G>A (p.Gln15=)
|
|
|
NM_000281.4(PCBD1):c.48G>T (p.Leu16=)
|
|
|
NM_000281.4(PCBD1):c.60G>C (p.Leu20=)
|
|
|
NM_000281.4(PCBD1):c.61A>C (p.Arg21=)
|
|
|
NM_000281.4(PCBD1):c.66T>C (p.Ala22=)
|
|
|
NM_000281.4(PCBD1):c.72G>A (p.Gly24=)
|
|
|
NM_000282.4(PCCA):c.1005G>A (p.Val335=)
|
|
|
NM_000282.4(PCCA):c.1020C>T (p.Asp340=)
|
rs2152588978
|
|
NM_000282.4(PCCA):c.1026G>A (p.Lys342=)
|
rs2152589052
|
|
NM_000282.4(PCCA):c.1042T>C (p.Leu348=)
|
rs2152589147
|
|
NM_000282.4(PCCA):c.1044G>A (p.Leu348=)
|
|
|
NM_000282.4(PCCA):c.105+11A>G
|
|
|
NM_000282.4(PCCA):c.105+20C>T
|
|
|
NM_000282.4(PCCA):c.105+8G>A
|
|
|
NM_000282.4(PCCA):c.105+9C>T
|
|
|
NM_000282.4(PCCA):c.106-11T>C
|
|
|
NM_000282.4(PCCA):c.106-12C>A
|
|
|
NM_000282.4(PCCA):c.106-12del
|
rs2152250467
|
|
NM_000282.4(PCCA):c.106-17C>T
|
|
|
NM_000282.4(PCCA):c.106-5del
|
|
|
NM_000282.4(PCCA):c.106-9T>G
|
|
|
NM_000282.4(PCCA):c.1062C>A (p.Leu354=)
|
|
|
NM_000282.4(PCCA):c.1065+11C>T
|
|
|
NM_000282.4(PCCA):c.1065+18T>A
|
rs1458093935
|
|
NM_000282.4(PCCA):c.1065+3AAC[2]
|
rs1467232371
|
|
NM_000282.4(PCCA):c.1065+8C>T
|
|
|
NM_000282.4(PCCA):c.1066-10G>C
|
rs1486164333
|
|
NM_000282.4(PCCA):c.1066-15A>G
|
|
|
NM_000282.4(PCCA):c.1066-4G>T
|
|
|
NM_000282.4(PCCA):c.1066-7C>G
|
|
|
NM_000282.4(PCCA):c.1066-8C>T
|
|
|
NM_000282.4(PCCA):c.1099C>T (p.Leu367=)
|
rs1328083857
|
|
NM_000282.4(PCCA):c.1101G>A (p.Leu367=)
|
|
|
NM_000282.4(PCCA):c.1113G>A (p.Gln371=)
|
rs2152683893
|
|
NM_000282.4(PCCA):c.1131T>A (p.Ala377=)
|
|
|
NM_000282.4(PCCA):c.114G>A (p.Leu38=)
|
|
|
NM_000282.4(PCCA):c.1155A>G (p.Lys385=)
|
|
|
NM_000282.4(PCCA):c.1164T>C (p.Asp388=)
|
rs2152684012
|
|
NM_000282.4(PCCA):c.1179C>A (p.Gly393=)
|
rs1430193054
|
|
NM_000282.4(PCCA):c.1197G>C (p.Arg399=)
|
|
|
NM_000282.4(PCCA):c.1209+10A>G
|
rs764226410
|
|
NM_000282.4(PCCA):c.1209+13G>C
|
|
|
NM_000282.4(PCCA):c.1209+14T>G
|
|
|
NM_000282.4(PCCA):c.1209+18G>A
|
|
|
NM_000282.4(PCCA):c.1209+18G>T
|
|
|
NM_000282.4(PCCA):c.1209+8G>C
|
|
|
NM_000282.4(PCCA):c.1210-14C>T
|
|
|
NM_000282.4(PCCA):c.1210-15C>T
|
|
|
NM_000282.4(PCCA):c.1210-16T>C
|
|
|
NM_000282.4(PCCA):c.1210-19C>T
|
|
|
NM_000282.4(PCCA):c.1210-4T>C
|
rs1415422969
|
|
NM_000282.4(PCCA):c.1210-9A>T
|
|
|
NM_000282.4(PCCA):c.1212C>T (p.Asp404=)
|
rs2152686072
|
|
NM_000282.4(PCCA):c.1215C>T (p.Pro405=)
|
|
|
NM_000282.4(PCCA):c.1221G>A (p.Lys407=)
|
rs2152686094
|
|
NM_000282.4(PCCA):c.1230T>C (p.Gly410=)
|
|
|
NM_000282.4(PCCA):c.1239T>G (p.Ser413=)
|
|
|
NM_000282.4(PCCA):c.1245G>A (p.Gly415=)
|
|
|
NM_000282.4(PCCA):c.1249T>C (p.Leu417=)
|
rs2066177786
|
|
NM_000282.4(PCCA):c.1263A>G (p.Gln421=)
|
|
|
NM_000282.4(PCCA):c.126A>G (p.Arg42=)
|
rs763916930
|
|
NM_000282.4(PCCA):c.1276C>T (p.Leu426=)
|
|
|
NM_000282.4(PCCA):c.1284+10T>G
|
|
|
NM_000282.4(PCCA):c.1284+10dup
|
rs1309984509
|
|
NM_000282.4(PCCA):c.1284+14C>T
|
|
|
NM_000282.4(PCCA):c.1284+18_1284+34del
|
|
|
NM_000282.4(PCCA):c.1284+19A>G
|
rs2066182757
|
|
NM_000282.4(PCCA):c.1284+7C>A
|
|
|
NM_000282.4(PCCA):c.1285-12_1285-8del
|
rs2066517246
|
|
NM_000282.4(PCCA):c.1285-14T>C
|
rs1374058554
|
|
NM_000282.4(PCCA):c.1285-7C>T
|
rs748531448
|
|
NM_000282.4(PCCA):c.1285-7dup
|
rs2066518077
|
|
NM_000282.4(PCCA):c.1285-9T>C
|
|
|
NM_000282.4(PCCA):c.129G>A (p.Gln43=)
|
|
|
NM_000282.4(PCCA):c.1311A>T (p.Pro437=)
|
rs2152692646
|
|
NM_000282.4(PCCA):c.1353+10A>C
|
rs1595236362
|
|
NM_000282.4(PCCA):c.1353+10A>G
|
rs1595236362
|
|
NM_000282.4(PCCA):c.1353+10del
|
|
|
NM_000282.4(PCCA):c.1353+12T>G
|
|
|
NM_000282.4(PCCA):c.1353+9_1353+13del
|
|
|
NM_000282.4(PCCA):c.1354-13T>C
|
|
|
NM_000282.4(PCCA):c.1354-14T>G
|
|
|
NM_000282.4(PCCA):c.1354-17T>G
|
|
|
NM_000282.4(PCCA):c.1354-20_1354-17del
|
|
|
NM_000282.4(PCCA):c.1354-8G>C
|
|
|
NM_000282.4(PCCA):c.1356A>G (p.Leu452=)
|
|
|
NM_000282.4(PCCA):c.1362A>C (p.Thr454=)
|
rs765949778
|
|
NM_000282.4(PCCA):c.1365T>C (p.Tyr455=)
|
rs1225545034
|
|
NM_000282.4(PCCA):c.1374T>C (p.Asp458=)
|
|
|
NM_000282.4(PCCA):c.1392G>A (p.Lys464=)
|
rs2152697440
|
|
NM_000282.4(PCCA):c.1407A>T (p.Ala469=)
|
rs2152697468
|
|
NM_000282.4(PCCA):c.1408C>T (p.Leu470=)
|
rs1566911871
|
|
NM_000282.4(PCCA):c.1416C>T (p.Asn472=)
|
|
|
NM_000282.4(PCCA):c.1419T>C (p.Tyr473=)
|
rs1437714151
|
|
NM_000282.4(PCCA):c.141G>T (p.Val47=)
|
|
|
NM_000282.4(PCCA):c.1422T>C (p.Val474=)
|
rs2066771458
|
|
NM_000282.4(PCCA):c.1429+10A>G
|
|
|
NM_000282.4(PCCA):c.1429+13A>T
|
|
|
NM_000282.4(PCCA):c.1429+13_1429+14del
|
|
|
NM_000282.4(PCCA):c.1429+15T>G
|
|
|
NM_000282.4(PCCA):c.1429+18C>T
|
rs1445188783
|
|
NM_000282.4(PCCA):c.1429+20C>T
|
rs2152697607
|
|
NM_000282.4(PCCA):c.1430-14C>A
|
|
|
NM_000282.4(PCCA):c.1430-15T>C
|
|
|
NM_000282.4(PCCA):c.1430-16A>G
|
|
|
NM_000282.4(PCCA):c.1430-17T>C
|
|
|
NM_000282.4(PCCA):c.1430-18A>T
|
rs770776146
|
|
NM_000282.4(PCCA):c.1430-8A>T
|
|
|
NM_000282.4(PCCA):c.1446T>C (p.Ile482=)
|
|
|
NM_000282.4(PCCA):c.1449A>G (p.Ala483=)
|
rs764611115
|
|
NM_000282.4(PCCA):c.1449A>T (p.Ala483=)
|
|
|
NM_000282.4(PCCA):c.1455T>C (p.Leu485=)
|
rs752220238
|
|
NM_000282.4(PCCA):c.1458A>C (p.Arg486=)
|
rs2152733872
|
|
NM_000282.4(PCCA):c.1476A>T (p.Ser492=)
|
|
|
NM_000282.4(PCCA):c.1482T>C (p.Phe494=)
|
|
|
NM_000282.4(PCCA):c.1491A>G (p.Gly497=)
|
rs965243149
|
|
NM_000282.4(PCCA):c.1494C>T (p.Asp498=)
|
rs977076579
|
|
NM_000282.4(PCCA):c.1506A>G (p.Lys502=)
|
|
|
NM_000282.4(PCCA):c.1512C>G (p.Leu504=)
|
|
|
NM_000282.4(PCCA):c.1512C>T (p.Leu504=)
|
|
|
NM_000282.4(PCCA):c.1524T>C (p.Tyr508=)
|
rs2152734002
|
|
NM_000282.4(PCCA):c.1533C>T (p.Gly511=)
|
|
|
NM_000282.4(PCCA):c.153T>A (p.Leu51=)
|
|
|
NM_000282.4(PCCA):c.1540+13T>C
|
rs2069419811
|
|
NM_000282.4(PCCA):c.1540+7A>G
|
rs761046263
|
|
NM_000282.4(PCCA):c.1540+9G>A
|
|
|
NM_000282.4(PCCA):c.1540+9G>T
|
|
|
NM_000282.4(PCCA):c.1541-12_1541-9del
|
rs763530693
|
|
NM_000282.4(PCCA):c.1541-14T>C
|
|
|
NM_000282.4(PCCA):c.1541-16G>A
|
|
|
NM_000282.4(PCCA):c.1541-17T>C
|
|
|
NM_000282.4(PCCA):c.1541-19G>A
|
|
|
NM_000282.4(PCCA):c.1541-19G>T
|
|
|
NM_000282.4(PCCA):c.1541-19_1541-12del
|
|
|
NM_000282.4(PCCA):c.1541-19del
|
rs773809966
|
|
NM_000282.4(PCCA):c.1541-20_1541-9del
|
|
|
NM_000282.4(PCCA):c.1541-5C>T
|
|
|
NM_000282.4(PCCA):c.1541-6C>T
|
|
|
NM_000282.4(PCCA):c.156T>C (p.Gly52=)
|
|
|
NM_000282.4(PCCA):c.1575A>G (p.Leu525=)
|
|
|
NM_000282.4(PCCA):c.1590A>G (p.Ser530=)
|
rs2152751916
|
|
NM_000282.4(PCCA):c.1593A>G (p.Ser531=)
|
rs2152751931
|
|
NM_000282.4(PCCA):c.1594T>C (p.Leu532=)
|
rs2152751935
|
|
NM_000282.4(PCCA):c.1599T>C (p.Phe533=)
|
rs2152751951
|
|
NM_000282.4(PCCA):c.159A>C (p.Ser53=)
|
|
|
NM_000282.4(PCCA):c.159A>T (p.Ser53=)
|
|
|
NM_000282.4(PCCA):c.1620A>G (p.Ala540=)
|
rs1566960733
|
|
NM_000282.4(PCCA):c.1643+11T>C
|
rs2152752064
|
|
NM_000282.4(PCCA):c.1643+12C>A
|
|
|
NM_000282.4(PCCA):c.1643+15T>C
|
|
|
NM_000282.4(PCCA):c.1643+17A>G
|
|
|
NM_000282.4(PCCA):c.1643+8_1643+13del
|
rs2152752048
|
|
NM_000282.4(PCCA):c.1643+9G>A
|
|
|
NM_000282.4(PCCA):c.1644-18C>T
|
rs1431833092
|
|
NM_000282.4(PCCA):c.1644-7A>G
|
|
|
NM_000282.4(PCCA):c.1644-9C>T
|
rs1425956784
|
|
NM_000282.4(PCCA):c.1650T>G (p.Pro550=)
|
|
|
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
|
rs61749895
|
|
NM_000282.4(PCCA):c.1665C>T (p.Asp555=)
|
rs1461874924
|
|
NM_000282.4(PCCA):c.1671C>G (p.Ala557=)
|
rs2075362375
|
|
NM_000282.4(PCCA):c.1680G>A (p.Glu560=)
|
|
|
NM_000282.4(PCCA):c.1695G>A (p.Leu565=)
|
rs1595621243
|
|
NM_000282.4(PCCA):c.1713C>G (p.Thr571=)
|
|
|
NM_000282.4(PCCA):c.171T>C (p.Asp57=)
|
|
|
NM_000282.4(PCCA):c.1731T>C (p.Asn577=)
|
rs2152811890
|
|
NM_000282.4(PCCA):c.1740G>A (p.Val580=)
|
rs2152811913
|
|
NM_000282.4(PCCA):c.1746+12T>C
|
|
|
NM_000282.4(PCCA):c.1746+14_1746+17del
|
|
|
NM_000282.4(PCCA):c.1746+15T>C
|
|
|
NM_000282.4(PCCA):c.1746+17del
|
|
|
NM_000282.4(PCCA):c.1747-11T>C
|
|
|
NM_000282.4(PCCA):c.1747-12G>A
|
|
|
NM_000282.4(PCCA):c.1747-15T>G
|
|
|
NM_000282.4(PCCA):c.1747-18T>C
|
|
|
NM_000282.4(PCCA):c.1747-20C>T
|
|
|
NM_000282.4(PCCA):c.1747-6C>T
|
|
|
NM_000282.4(PCCA):c.1747-7A>G
|
|
|
NM_000282.4(PCCA):c.1761G>A (p.Gly587=)
|
|
|
NM_000282.4(PCCA):c.1773T>C (p.Asn591=)
|
rs1595860527
|
|
NM_000282.4(PCCA):c.1791C>T (p.Asn597=)
|
rs2079093623
|
|
NM_000282.4(PCCA):c.1800G>C (p.Ser600=)
|
rs761681712
|
|
NM_000282.4(PCCA):c.1800G>T (p.Ser600=)
|
rs761681712
|
|
NM_000282.4(PCCA):c.1803C>T (p.Pro601=)
|
|
|
NM_000282.4(PCCA):c.1804T>C (p.Leu602=)
|
|
|
NM_000282.4(PCCA):c.1806A>G (p.Leu602=)
|
rs2152893970
|
|
NM_000282.4(PCCA):c.1807T>C (p.Leu603=)
|
rs2079094668
|
|
NM_000282.4(PCCA):c.1809G>A (p.Leu603=)
|
|
|
NM_000282.4(PCCA):c.1812T>C (p.Ser604=)
|
rs2152893989
|
|
NM_000282.4(PCCA):c.183+15G>T
|
|
|
NM_000282.4(PCCA):c.183+19T>C
|
rs780105316
|
|
NM_000282.4(PCCA):c.183+7A>G
|
rs369767655
|
|
NM_000282.4(PCCA):c.183+9T>G
|
rs2152251053
|
|
NM_000282.4(PCCA):c.1830T>C (p.Thr610=)
|
|
|
NM_000282.4(PCCA):c.1830T>G (p.Thr610=)
|
|
|
NM_000282.4(PCCA):c.184-10C>G
|
|
|
NM_000282.4(PCCA):c.184-10C>T
|
rs2048349934
|
|
NM_000282.4(PCCA):c.184-15T>G
|
rs1257547578
|
|
NM_000282.4(PCCA):c.184-19G>A
|
|
|
NM_000282.4(PCCA):c.184-9T>A
|
|
|
NM_000282.4(PCCA):c.184-9T>C
|
|
|
NM_000282.4(PCCA):c.1842C>G (p.Val614=)
|
|
|
NM_000282.4(PCCA):c.1842C>T (p.Val614=)
|
|
|
NM_000282.4(PCCA):c.1845+10G>T
|
rs1456360150
|
|
NM_000282.4(PCCA):c.1845+12A>G
|
|
|
NM_000282.4(PCCA):c.1845+13A>G
|
|
|
NM_000282.4(PCCA):c.1845+20C>A
|
|
|
NM_000282.4(PCCA):c.1845+21del
|
|
|
NM_000282.4(PCCA):c.1845+8T>C
|
|
|
NM_000282.4(PCCA):c.1845+9T>C
|
|
|
NM_000282.4(PCCA):c.1846-10dup
|
|
|
NM_000282.4(PCCA):c.1846-13G>T
|
|
|
NM_000282.4(PCCA):c.1846-15_1846-14del
|
|
|
NM_000282.4(PCCA):c.1846-20A>G
|
|
|
NM_000282.4(PCCA):c.1846-6T>C
|
|
|
NM_000282.4(PCCA):c.1846-9_1846-6del
|
|
|
NM_000282.4(PCCA):c.1851T>G (p.Leu617=)
|
|
|
NM_000282.4(PCCA):c.1863A>C (p.Ala621=)
|
rs937736837
|
|
NM_000282.4(PCCA):c.1872C>T (p.Asn624=)
|
|
|
NM_000282.4(PCCA):c.1884G>A (p.Gln628=)
|
rs552141237
|
|
NM_000282.4(PCCA):c.1890T>C (p.Leu630=)
|
|
|
NM_000282.4(PCCA):c.1893T>C (p.Gly631=)
|
rs2152925693
|
|
NM_000282.4(PCCA):c.1896A>C (p.Thr632=)
|
rs61760965
|
|
NM_000282.4(PCCA):c.1899+12A>G
|
|
|
NM_000282.4(PCCA):c.1899+14C>T
|
|
|
NM_000282.4(PCCA):c.1899+15A>G
|
rs1595942350
|
|
NM_000282.4(PCCA):c.1899+18C>A
|
|
|
NM_000282.4(PCCA):c.1899+21_1899+24del
|
|
|
NM_000282.4(PCCA):c.18C>G (p.Val6=)
|
|
|
NM_000282.4(PCCA):c.18C>T (p.Val6=)
|
rs752423629
|
|
NM_000282.4(PCCA):c.1900-14G>T
|
|
|
NM_000282.4(PCCA):c.1900-15T>C
|
|
|
NM_000282.4(PCCA):c.1900-20G>T
|
|
|
NM_000282.4(PCCA):c.1900-7C>T
|
|
|
NM_000282.4(PCCA):c.1900-8C>T
|
rs1480940423
|
|
NM_000282.4(PCCA):c.1905G>A (p.Lys635=)
|
|
|
NM_000282.4(PCCA):c.1911T>C (p.Asn637=)
|
|
|
NM_000282.4(PCCA):c.1915T>C (p.Leu639=)
|
rs2152998157
|
|
NM_000282.4(PCCA):c.1920C>T (p.Thr640=)
|
rs2152998162
|
|
NM_000282.4(PCCA):c.1926T>G (p.Leu642=)
|
|
|
NM_000282.4(PCCA):c.1936T>C (p.Leu646=)
|
|
|
NM_000282.4(PCCA):c.1941C>T (p.Asn647=)
|
|
|
NM_000282.4(PCCA):c.1947T>C (p.Phe649=)
|
|
|
NM_000282.4(PCCA):c.1951C>T (p.Leu651=)
|
rs1449490636
|
|
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
|
rs765771203
|
|
NM_000282.4(PCCA):c.1953G>T (p.Leu651=)
|
rs765771203
|
|
NM_000282.4(PCCA):c.1962G>A (p.Val654=)
|
rs2086766593
|
|
NM_000282.4(PCCA):c.1962G>T (p.Val654=)
|
rs2086766593
|
|
NM_000282.4(PCCA):c.1971C>T (p.Asp657=)
|
|
|
NM_000282.4(PCCA):c.1980T>C (p.Ser660=)
|
rs751989323
|
|
NM_000282.4(PCCA):c.1986G>A (p.Leu662=)
|
|
|
NM_000282.4(PCCA):c.1992C>T (p.Ser664=)
|
|
|
NM_000282.4(PCCA):c.1995G>C (p.Pro665=)
|
|
|
NM_000282.4(PCCA):c.2007G>C (p.Val669=)
|
rs2152998254
|
|
NM_000282.4(PCCA):c.2013G>A (p.Val671=)
|
|
|
NM_000282.4(PCCA):c.2013G>T (p.Val671=)
|
|
|
NM_000282.4(PCCA):c.2016C>A (p.Ala672=)
|
rs773033856
|
|
NM_000282.4(PCCA):c.2016C>G (p.Ala672=)
|
|
|
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)
|
rs142646074
|
|
NM_000282.4(PCCA):c.201T>C (p.Leu67=)
|
|
|
NM_000282.4(PCCA):c.2031T>C (p.Pro677=)
|
rs2152998273
|
|
NM_000282.4(PCCA):c.2040+12G>C
|
|
|
NM_000282.4(PCCA):c.2040+12G>T
|
|
|
NM_000282.4(PCCA):c.2040+15T>C
|
|
|
NM_000282.4(PCCA):c.2040+16G>C
|
rs2152998313
|
|
NM_000282.4(PCCA):c.2040+17TC[4]
|
rs1312258807
|
|
NM_000282.4(PCCA):c.2040+18C>G
|
|
|
NM_000282.4(PCCA):c.2040+20C>G
|
|
|
NM_000282.4(PCCA):c.2040+7G>A
|
|
|
NM_000282.4(PCCA):c.2040+8C>T
|
|
|
NM_000282.4(PCCA):c.2040+9TG[3]
|
rs751014655
|
|
NM_000282.4(PCCA):c.2040+9TG[5]
|
rs751014655
|
|
NM_000282.4(PCCA):c.2041-16C>T
|
|
|
NM_000282.4(PCCA):c.2041-8T>C
|
rs2153008293
|
|
NM_000282.4(PCCA):c.2043A>G (p.Val681=)
|
rs745390236
|
|
NM_000282.4(PCCA):c.207T>C (p.Ala69=)
|
rs2152278538
|
|
NM_000282.4(PCCA):c.2094T>C (p.Ser698=)
|
rs2153008347
|
|
NM_000282.4(PCCA):c.2100A>G (p.Thr700=)
|
rs141926030
|
|
NM_000282.4(PCCA):c.2109A>G (p.Lys703=)
|
|
|
NM_000282.4(PCCA):c.210T>C (p.Asn70=)
|
|
|
NM_000282.4(PCCA):c.2118+12_2118+19dup
|
|
|
NM_000282.4(PCCA):c.2118+18C>T
|
|
|
NM_000282.4(PCCA):c.2118+7C>T
|
|
|
NM_000282.4(PCCA):c.2119-17A>G
|
|
|
NM_000282.4(PCCA):c.2119-19G>A
|
rs1162118685
|
|
NM_000282.4(PCCA):c.2119-4C>T
|
|
|
NM_000282.4(PCCA):c.2124A>G (p.Lys708=)
|
rs2153010943
|
|
NM_000282.4(PCCA):c.2130G>A (p.Val710=)
|
|
|
NM_000282.4(PCCA):c.2133C>T (p.His711=)
|
|
|
NM_000282.4(PCCA):c.2163G>C (p.Gly721=)
|
|
|
NM_000282.4(PCCA):c.2167C>T (p.Leu723=)
|
rs748808267
|
|
NM_000282.4(PCCA):c.2181G>A (p.Leu727=)
|
|
|
NM_000282.4(PCCA):c.225A>C (p.Ala75=)
|
rs1243423868
|
|
NM_000282.4(PCCA):c.225A>G (p.Ala75=)
|
|
|
NM_000282.4(PCCA):c.231+10A>G
|
|
|
NM_000282.4(PCCA):c.231+18C>A
|
|
|
NM_000282.4(PCCA):c.231+19T>G
|
|
|
NM_000282.4(PCCA):c.231+9_231+13del
|
rs759203419
|
|
NM_000282.4(PCCA):c.232-13T>C
|
|
|
NM_000282.4(PCCA):c.232-17A>C
|
|
|
NM_000282.4(PCCA):c.232-18T>A
|
|
|
NM_000282.4(PCCA):c.232-18T>C
|
|
|
NM_000282.4(PCCA):c.232-6A>T
|
rs527249599
|
|
NM_000282.4(PCCA):c.243T>A (p.Thr81=)
|
|
|
NM_000282.4(PCCA):c.243T>C (p.Thr81=)
|
rs2152278998
|
|
NM_000282.4(PCCA):c.24A>T (p.Thr8=)
|
rs117397004
|
|
NM_000282.4(PCCA):c.267A>G (p.Thr89=)
|
rs2152279061
|
|
NM_000282.4(PCCA):c.273C>T (p.Ala91=)
|
rs2152279075
|
|
NM_000282.4(PCCA):c.279C>T (p.His93=)
|
rs776253297
|
|
NM_000282.4(PCCA):c.27A>G (p.Ala9=)
|
|
|
NM_000282.4(PCCA):c.300+15G>A
|
|
|
NM_000282.4(PCCA):c.300+18T>C
|
|
|
NM_000282.4(PCCA):c.300+7A>G
|
rs1241971231
|
|
NM_000282.4(PCCA):c.300+8T>G
|
|
|
NM_000282.4(PCCA):c.300+9A>G
|
rs2152279171
|
|
NM_000282.4(PCCA):c.301-10G>A
|
|
|
NM_000282.4(PCCA):c.301-11T>C
|
|
|
NM_000282.4(PCCA):c.301-18A>G
|
|
|
NM_000282.4(PCCA):c.301-5C>T
|
rs2152382806
|
|
NM_000282.4(PCCA):c.306T>C (p.His102=)
|
rs1388078702
|
|
NM_000282.4(PCCA):c.30G>A (p.Pro10=)
|
|
|
NM_000282.4(PCCA):c.30G>C (p.Pro10=)
|
|
|
NM_000282.4(PCCA):c.312A>G (p.Lys104=)
|
|
|
NM_000282.4(PCCA):c.31C>T (p.Leu11=)
|
|
|
NM_000282.4(PCCA):c.33G>A (p.Leu11=)
|
rs922002208
|
|
NM_000282.4(PCCA):c.342A>G (p.Pro114=)
|
|
|
NM_000282.4(PCCA):c.366C>T (p.Leu122=)
|
rs1228885494
|
|
NM_000282.4(PCCA):c.375T>C (p.Asp125=)
|
|
|
NM_000282.4(PCCA):c.378C>T (p.Ala126=)
|
rs2152382977
|
|
NM_000282.4(PCCA):c.396G>A (p.Lys132=)
|
rs2152383018
|
|
NM_000282.4(PCCA):c.402C>T (p.Thr134=)
|
|
|
NM_000282.4(PCCA):c.414+11A>G
|
|
|
NM_000282.4(PCCA):c.414+15A>C
|
|
|
NM_000282.4(PCCA):c.414+15A>G
|
rs1016791209
|
|
NM_000282.4(PCCA):c.414+19A>T
|
|
|
NM_000282.4(PCCA):c.415-10C>A
|
|
|
NM_000282.4(PCCA):c.415-13T>C
|
|
|
NM_000282.4(PCCA):c.415-4T>C
|
rs2152387053
|
|
NM_000282.4(PCCA):c.429T>C (p.Tyr143=)
|
|
|
NM_000282.4(PCCA):c.42C>G (p.Ala14=)
|
rs200714802
|
|
NM_000282.4(PCCA):c.42C>T (p.Ala14=)
|
rs200714802
|
|
NM_000282.4(PCCA):c.441A>G (p.Ser147=)
|
|
|
NM_000282.4(PCCA):c.459C>T (p.Ala153=)
|
rs1358991180
|
|
NM_000282.4(PCCA):c.45A>G (p.Gly15=)
|
|
|
NM_000282.4(PCCA):c.468+10T>C
|
|
|
NM_000282.4(PCCA):c.468+10T>G
|
rs2152387181
|
|
NM_000282.4(PCCA):c.468+15A>G
|
|
|
NM_000282.4(PCCA):c.468+18C>G
|
|
|
NM_000282.4(PCCA):c.468+18C>T
|
|
|
NM_000282.4(PCCA):c.468+19A>G
|
|
|
NM_000282.4(PCCA):c.468+8G>A
|
rs2152387172
|
|
NM_000282.4(PCCA):c.468+8_468+10dup
|
|
|
NM_000282.4(PCCA):c.469-4A>G
|
|
|
NM_000282.4(PCCA):c.469-5C>T
|
|
|
NM_000282.4(PCCA):c.469-5dup
|
|
|
NM_000282.4(PCCA):c.469-8C>A
|
|
|
NM_000282.4(PCCA):c.474A>G (p.Ala158=)
|
|
|
NM_000282.4(PCCA):c.483C>G (p.Val161=)
|
|
|
NM_000282.4(PCCA):c.48G>C (p.Arg16=)
|
|
|
NM_000282.4(PCCA):c.498T>C (p.Pro166=)
|
|
|
NM_000282.4(PCCA):c.519C>A (p.Ala173=)
|
|
|
NM_000282.4(PCCA):c.564G>A (p.Glu188=)
|
rs1594744855
|
|
NM_000282.4(PCCA):c.567T>C (p.Val189=)
|
rs773301690
|
|
NM_000282.4(PCCA):c.576C>A (p.Ile192=)
|
|
|
NM_000282.4(PCCA):c.579T>G (p.Pro193=)
|
rs2152478869
|
|
NM_000282.4(PCCA):c.597C>G (p.Val199=)
|
|
|
NM_000282.4(PCCA):c.600+15T>C
|
|
|
NM_000282.4(PCCA):c.600+16A>C
|
|
|
NM_000282.4(PCCA):c.600+17A>C
|
|
|
NM_000282.4(PCCA):c.601-10G>A
|
rs903647084
|
|
NM_000282.4(PCCA):c.601-12C>T
|
|
|
NM_000282.4(PCCA):c.601-18C>T
|
|
|
NM_000282.4(PCCA):c.601-4A>G
|
|
|
NM_000282.4(PCCA):c.601-6T>C
|
|
|
NM_000282.4(PCCA):c.601-9C>T
|
rs775469263
|
|
NM_000282.4(PCCA):c.603T>C (p.Asp201=)
|
rs773868428
|
|
NM_000282.4(PCCA):c.612A>G (p.Glu204=)
|
rs1594860188
|
|
NM_000282.4(PCCA):c.630G>A (p.Arg210=)
|
rs2152522233
|
|
NM_000282.4(PCCA):c.632A>G (p.Glu211Gly)
|
|
|
NM_000282.4(PCCA):c.637+18C>T
|
rs758676556
|
|
NM_000282.4(PCCA):c.637+9T>G
|
rs2152522254
|
|
NM_000282.4(PCCA):c.638-5G>T
|
rs764316702
|
|
NM_000282.4(PCCA):c.638-7C>T
|
rs2152558252
|
|
NM_000282.4(PCCA):c.63G>A (p.Pro21=)
|
rs2152189800
|
|
NM_000282.4(PCCA):c.645T>A (p.Pro215=)
|
rs751840442
|
|
NM_000282.4(PCCA):c.66G>A (p.Pro22=)
|
|
|
NM_000282.4(PCCA):c.66G>C (p.Pro22=)
|
|
|
NM_000282.4(PCCA):c.66G>T (p.Pro22=)
|
|
|
NM_000282.4(PCCA):c.696T>G (p.Ala232=)
|
rs2152558384
|
|
NM_000282.4(PCCA):c.69G>A (p.Gln23=)
|
rs1593997093
|
|
NM_000282.4(PCCA):c.6G>A (p.Ala2=)
|
rs958365590
|
|
NM_000282.4(PCCA):c.6G>T (p.Ala2=)
|
|
|
NM_000282.4(PCCA):c.716+16A>G
|
|
|
NM_000282.4(PCCA):c.716+20A>G
|
|
|
NM_000282.4(PCCA):c.717-15T>G
|
|
|
NM_000282.4(PCCA):c.717-19T>G
|
|
|
NM_000282.4(PCCA):c.717-5dup
|
rs2062610539
|
|
NM_000282.4(PCCA):c.717-8T>G
|
rs1367148068
|
|
NM_000282.4(PCCA):c.72G>A (p.Gln24=)
|
rs2152189926
|
|
NM_000282.4(PCCA):c.735A>G (p.Ser245=)
|
|
|
NM_000282.4(PCCA):c.73C>T (p.Leu25=)
|
|
|
NM_000282.4(PCCA):c.747T>C (p.Ala249=)
|
rs1594992384
|
|
NM_000282.4(PCCA):c.756T>C (p.Ser252=)
|
rs2152564931
|
|
NM_000282.4(PCCA):c.75G>T (p.Leu25=)
|
rs1295789610
|
|
NM_000282.4(PCCA):c.762C>A (p.Gly254=)
|
rs758211858
|
|
NM_000282.4(PCCA):c.771A>G (p.Arg257=)
|
rs1483857199
|
|
NM_000282.4(PCCA):c.774A>C (p.Leu258=)
|
|
|
NM_000282.4(PCCA):c.774A>G (p.Leu258=)
|
|
|
NM_000282.4(PCCA):c.775C>T (p.Leu259=)
|
|
|
NM_000282.4(PCCA):c.780A>T (p.Ile260=)
|
rs1451573276
|
|
NM_000282.4(PCCA):c.783A>G (p.Glu261=)
|
rs917366865
|
|
NM_000282.4(PCCA):c.79C>T (p.Leu27=)
|
rs2152189967
|
|
NM_000282.4(PCCA):c.801T>C (p.Pro267=)
|
rs2152564990
|
|
NM_000282.4(PCCA):c.807T>C (p.His269=)
|
rs2152565006
|
|
NM_000282.4(PCCA):c.819+10T>C
|
rs1280822128
|
|
NM_000282.4(PCCA):c.819+13_819+35del
|
|
|
NM_000282.4(PCCA):c.819+16A>T
|
rs377356398
|
|
NM_000282.4(PCCA):c.819+19C>T
|
|
|
NM_000282.4(PCCA):c.819+7A>G
|
|
|
NM_000282.4(PCCA):c.819+8C>T
|
|
|
NM_000282.4(PCCA):c.81G>A (p.Leu27=)
|
rs2152189973
|
|
NM_000282.4(PCCA):c.820-18A>G
|
|
|
NM_000282.4(PCCA):c.820-8T>C
|
|
|
NM_000282.4(PCCA):c.820-9C>T
|
rs1371297395
|
|
NM_000282.4(PCCA):c.847T>C (p.Leu283=)
|
rs911990330
|
|
NM_000282.4(PCCA):c.867G>A (p.Glu289=)
|
|
|
NM_000282.4(PCCA):c.873A>C (p.Ser291=)
|
|
|
NM_000282.4(PCCA):c.87G>C (p.Ala29=)
|
|
|
NM_000282.4(PCCA):c.880A>C (p.Arg294=)
|
rs2063109467
|
|
NM_000282.4(PCCA):c.897G>C (p.Val299=)
|
rs770113371
|
|
NM_000282.4(PCCA):c.900G>A (p.Val300=)
|
rs2152572391
|
|
NM_000282.4(PCCA):c.906A>G (p.Glu302=)
|
|
|
NM_000282.4(PCCA):c.90G>C (p.Ala30=)
|
rs776449255
|
|
NM_000282.4(PCCA):c.90G>T (p.Ala30=)
|
rs776449255
|
|
NM_000282.4(PCCA):c.912A>G (p.Pro304=)
|
rs2063111759
|
|
NM_000282.4(PCCA):c.914+14G>A
|
|
|
NM_000282.4(PCCA):c.914+14G>C
|
rs2152572441
|
|
NM_000282.4(PCCA):c.914+16A>T
|
|
|
NM_000282.4(PCCA):c.914+17A>G
|
|
|
NM_000282.4(PCCA):c.914+17A>T
|
|
|
NM_000282.4(PCCA):c.914+18_914+19inv
|
|
|
NM_000282.4(PCCA):c.914+8T>A
|
rs543352333
|
|
NM_000282.4(PCCA):c.914+9C>T
|
|
|
NM_000282.4(PCCA):c.915-13T>G
|
|
|
NM_000282.4(PCCA):c.915-15T>G
|
|
|
NM_000282.4(PCCA):c.915-18A>G
|
|
|
NM_000282.4(PCCA):c.915-18del
|
|
|
NM_000282.4(PCCA):c.915-4G>A
|
|
|
NM_000282.4(PCCA):c.915-5T>C
|
rs2152587983
|
|
NM_000282.4(PCCA):c.915-6A>G
|
rs2063416816
|
|
NM_000282.4(PCCA):c.915-6A>T
|
rs2063416816
|
|
NM_000282.4(PCCA):c.91C>T (p.Leu31=)
|
rs2152190063
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
NM_000282.4(PCCA):c.930G>C (p.Ala310=)
|
rs377248400
|
|
NM_000282.4(PCCA):c.939A>G (p.Arg313=)
|
|
|
NM_000282.4(PCCA):c.93G>A (p.Leu31=)
|
|
|
NM_000282.4(PCCA):c.940A>C (p.Arg314=)
|
rs2152588262
|
|
NM_000282.4(PCCA):c.942A>G (p.Arg314=)
|
rs2152588280
|
|
NM_000282.4(PCCA):c.94C>A (p.Arg32=)
|
rs2152190089
|
|
NM_000282.4(PCCA):c.954A>G (p.Glu318=)
|
rs2152588516
|
|
NM_000282.4(PCCA):c.957A>G (p.Gln319=)
|
rs756496977
|
|
NM_000282.4(PCCA):c.960T>C (p.Ala320=)
|
|
|
NM_000282.4(PCCA):c.966T>G (p.Ala322=)
|
rs2152588623
|
|
NM_000282.4(PCCA):c.972C>G (p.Ala324=)
|
rs2063425317
|
|
NM_000282.4(PCCA):c.972C>T (p.Ala324=)
|
rs2063425317
|
|
NM_000282.4(PCCA):c.978A>G (p.Ala326=)
|
|
|
NM_000282.4(PCCA):c.981A>G (p.Val327=)
|
rs2063425788
|
|
NM_000282.4(PCCA):c.996T>C (p.Ala332=)
|
rs2152588809
|
|
NM_000282.4(PCCA):c.996T>G (p.Ala332=)
|
|
|
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
|
rs2063427075
|
|
NM_000282.4(PCCA):c.99C>G (p.Thr33=)
|
|
|
NM_000282.4(PCCA):c.99C>T (p.Thr33=)
|
|
|
NM_000282.4(PCCA):c.9G>A (p.Gly3=)
|
|
|
NM_000282.4(PCCA):c.9G>C (p.Gly3=)
|
rs547209141
|
|
NM_000317.3(PTS):c.108C>T (p.Asn36=)
|
rs1449216377
|
|
NM_000317.3(PTS):c.117G>C (p.Leu39=)
|
rs2135408246
|
|
NM_000317.3(PTS):c.120T>C (p.Phe40=)
|
|
|
NM_000317.3(PTS):c.123G>A (p.Gly41=)
|
|
|
NM_000317.3(PTS):c.141T>C (p.Asn47=)
|
|
|
NM_000317.3(PTS):c.147T>C (p.His49=)
|
|
|
NM_000317.3(PTS):c.159T>C (p.Tyr53=)
|
rs781197929
|
|
NM_000317.3(PTS):c.163+14_163+15inv
|
|
|
NM_000317.3(PTS):c.163+17T>C
|
|
|
NM_000317.3(PTS):c.164-10C>G
|
|
|
NM_000317.3(PTS):c.164-4A>G
|
|
|
NM_000317.3(PTS):c.164-4A>T
|
rs780741396
|
|
NM_000317.3(PTS):c.164-7T>C
|
rs1555198232
|
|
NM_000317.3(PTS):c.177A>G (p.Val59=)
|
|
|
NM_000317.3(PTS):c.180T>C (p.His60=)
|
rs1859913195
|
|
NM_000317.3(PTS):c.186+14A>G
|
|
|
NM_000317.3(PTS):c.186+16A>G
|
|
|
NM_000317.3(PTS):c.186+17T>G
|
|
|
NM_000317.3(PTS):c.186+18T>A
|
|
|
NM_000317.3(PTS):c.186+18T>C
|
|
|
NM_000317.3(PTS):c.186+19T>C
|
|
|
NM_000317.3(PTS):c.186+19del
|
|
|
NM_000317.3(PTS):c.186+20G>C
|
|
|
NM_000317.3(PTS):c.186+7G>A
|
|
|
NM_000317.3(PTS):c.186+7G>T
|
rs2135408985
|
|
NM_000317.3(PTS):c.187-10T>A
|
|
|
NM_000317.3(PTS):c.187-8T>C
|
|
|
NM_000317.3(PTS):c.21C>T (p.Gly7=)
|
rs2135407159
|
|
NM_000317.3(PTS):c.222T>A (p.Ala74=)
|
|
|
NM_000317.3(PTS):c.228C>A (p.Leu76=)
|
rs772713545
|
|
NM_000317.3(PTS):c.231A>G (p.Lys77=)
|
|
|
NM_000317.3(PTS):c.243+10T>C
|
rs1859918965
|
|
NM_000317.3(PTS):c.243+10T>G
|
|
|
NM_000317.3(PTS):c.243+11G>A
|
|
|
NM_000317.3(PTS):c.243+13T>C
|
|
|
NM_000317.3(PTS):c.243+15G>T
|
|
|
NM_000317.3(PTS):c.243+7G>A
|
|
|
NM_000317.3(PTS):c.243+9A>G
|
rs200446631
|
|
NM_000317.3(PTS):c.244-17C>T
|
|
|
NM_000317.3(PTS):c.244-4C>G
|
|
|
NM_000317.3(PTS):c.244-4C>T
|
rs759579787
|
|
NM_000317.3(PTS):c.244-8G>A
|
|
|
NM_000317.3(PTS):c.244-8G>C
|
|
|
NM_000317.3(PTS):c.244-8G>T
|
rs773715386
|
|
NM_000317.3(PTS):c.244-9T>C
|
|
|
NM_000317.3(PTS):c.249G>A (p.Ala83=)
|
|
|
NM_000317.3(PTS):c.24T>C (p.Arg8=)
|
|
|
NM_000317.3(PTS):c.261C>A (p.Pro87=)
|
|
|
NM_000317.3(PTS):c.273G>A (p.Lys91=)
|
rs1318726823
|
|
NM_000317.3(PTS):c.277C>T (p.Leu93=)
|
|
|
NM_000317.3(PTS):c.291G>A (p.Val97=)
|
rs2135410310
|
|
NM_000317.3(PTS):c.303A>C (p.Ala101=)
|
|
|
NM_000317.3(PTS):c.303A>G (p.Ala101=)
|
|
|
NM_000317.3(PTS):c.309G>A (p.Val103=)
|
|
|
NM_000317.3(PTS):c.312G>C (p.Val104=)
|
rs148185068
|
|
NM_000317.3(PTS):c.314+10A>C
|
rs2135410346
|
|
NM_000317.3(PTS):c.314+11C>T
|
|
|
NM_000317.3(PTS):c.314+14T>C
|
rs377221164
|
|
NM_000317.3(PTS):c.314+14T>G
|
|
|
NM_000317.3(PTS):c.314+20G>A
|
|
|
NM_000317.3(PTS):c.314+7G>C
|
|
|
NM_000317.3(PTS):c.314+8G>A
|
rs751944451
|
|
NM_000317.3(PTS):c.315-17G>A
|
|
|
NM_000317.3(PTS):c.315-17G>T
|
|
|
NM_000317.3(PTS):c.315-17del
|
|
|
NM_000317.3(PTS):c.315-20T>C
|
rs1566817881
|
|
NM_000317.3(PTS):c.315-5T>C
|
rs2135410431
|
|
NM_000317.3(PTS):c.315-6T>C
|
|
|
NM_000317.3(PTS):c.315-8T>C
|
|
|
NM_000317.3(PTS):c.318G>T (p.Thr106=)
|
|
|
NM_000317.3(PTS):c.327T>C (p.Asn109=)
|
|
|
NM_000317.3(PTS):c.333T>C (p.Ala111=)
|
rs1320913050
|
|
NM_000317.3(PTS):c.369T>C (p.Pro123=)
|
|
|
NM_000317.3(PTS):c.36A>G (p.Ala12=)
|
rs2135407170
|
|
NM_000317.3(PTS):c.372A>G (p.Val124=)
|
|
|
NM_000317.3(PTS):c.390A>G (p.Val130=)
|
rs2135410489
|
|
NM_000317.3(PTS):c.393A>G (p.Lys131=)
|
rs2135410494
|
|
NM_000317.3(PTS):c.405T>G (p.Thr135=)
|
rs59731976
|
|
NM_000317.3(PTS):c.420G>A (p.Val140=)
|
|
|
NM_000317.3(PTS):c.48C>T (p.Arg16=)
|
|
|
NM_000317.3(PTS):c.54C>A (p.Ile18=)
|
rs749133827
|
|
NM_000317.3(PTS):c.57C>T (p.Ser19=)
|
rs2135407185
|
|
NM_000317.3(PTS):c.63C>T (p.Ser21=)
|
|
|
NM_000317.3(PTS):c.75A>T (p.Arg25=)
|
|
|
NM_000317.3(PTS):c.76T>C (p.Leu26=)
|
|
|
NM_000317.3(PTS):c.83+10G>A
|
rs372809628
|
|
NM_000317.3(PTS):c.83+10G>T
|
rs372809628
|
|
NM_000317.3(PTS):c.83+11C>T
|
|
|
NM_000317.3(PTS):c.83+12A>C
|
|
|
NM_000317.3(PTS):c.83+12A>G
|
|
|
NM_000317.3(PTS):c.83+9T>C
|
|
|
NM_000317.3(PTS):c.83+9T>G
|
rs2135407218
|
|
NM_000317.3(PTS):c.84-10T>A
|
|
|
NM_000317.3(PTS):c.84-18T>C
|
|
|
NM_000317.3(PTS):c.84-4T>G
|
|
|
NM_000317.3(PTS):c.84-5G>A
|
rs61900919
|
|
NM_000317.3(PTS):c.84-5G>C
|
|
|
NM_000317.3(PTS):c.84-5G>T
|
rs61900919
|
|
NM_000317.3(PTS):c.84-5del
|
rs750461383
|
|
NM_000317.3(PTS):c.84-6G>T
|
rs778736284
|
|
NM_000317.3(PTS):c.84-8T>C
|
|
|
NM_000317.3(PTS):c.9G>A (p.Thr3=)
|
rs1460470110
|
|
NM_000320.3(QDPR):c.102C>T (p.Asn34=)
|
rs1357084602
|
|
NM_000320.3(QDPR):c.105+10C>G
|
|
|
NM_000320.3(QDPR):c.105+11G>C
|
|
|
NM_000320.3(QDPR):c.105+13G>A
|
|
|
NM_000320.3(QDPR):c.105+13G>T
|
|
|
NM_000320.3(QDPR):c.105+14C>T
|
|
|
NM_000320.3(QDPR):c.105+15T>C
|
|
|
NM_000320.3(QDPR):c.105+16G>C
|
|
|
NM_000320.3(QDPR):c.105+20C>G
|
|
|
NM_000320.3(QDPR):c.106-12T>C
|
|
|
NM_000320.3(QDPR):c.106-19del
|
rs1303595690
|
|
NM_000320.3(QDPR):c.106-20A>C
|
|
|
NM_000320.3(QDPR):c.106-6T>C
|
|
|
NM_000320.3(QDPR):c.106-8C>T
|
|
|
NM_000320.3(QDPR):c.117C>T (p.Ser39=)
|
|
|
NM_000320.3(QDPR):c.123T>C (p.Asp41=)
|
|
|
NM_000320.3(QDPR):c.12G>A (p.Ala4=)
|
|
|
NM_000320.3(QDPR):c.132G>A (p.Glu44=)
|
|
|
NM_000320.3(QDPR):c.144C>T (p.Ala48=)
|
|
|
NM_000320.3(QDPR):c.177G>A (p.Ser59=)
|
|
|
NM_000320.3(QDPR):c.189G>A (p.Gln63=)
|
|
|
NM_000320.3(QDPR):c.18T>G (p.Ala6=)
|
|
|
NM_000320.3(QDPR):c.192T>C (p.Ala64=)
|
|
|
NM_000320.3(QDPR):c.198+13A>T
|
|
|
NM_000320.3(QDPR):c.198+15G>A
|
|
|
NM_000320.3(QDPR):c.198+17C>T
|
|
|
NM_000320.3(QDPR):c.198+18C>G
|
|
|
NM_000320.3(QDPR):c.198+19C>A
|
|
|
NM_000320.3(QDPR):c.199-15G>A
|
|
|
NM_000320.3(QDPR):c.199-18T>A
|
|
|
NM_000320.3(QDPR):c.199-7G>A
|
|
|
NM_000320.3(QDPR):c.201G>C (p.Val67=)
|
|
|
NM_000320.3(QDPR):c.201G>T (p.Val67=)
|
|
|
NM_000320.3(QDPR):c.204T>C (p.Thr68=)
|
|
|
NM_000320.3(QDPR):c.210G>A (p.Glu70=)
|
|
|
NM_000320.3(QDPR):c.219G>A (p.Lys73=)
|
|
|
NM_000320.3(QDPR):c.21A>C (p.Ala7=)
|
|
|
NM_000320.3(QDPR):c.246A>C (p.Ala82=)
|
|
|
NM_000320.3(QDPR):c.24C>G (p.Gly8=)
|
|
|
NM_000320.3(QDPR):c.261T>C (p.Ala87=)
|
|
|
NM_000320.3(QDPR):c.264A>C (p.Gly88=)
|
|
|
NM_000320.3(QDPR):c.279C>T (p.Gly93=)
|
|
|
NM_000320.3(QDPR):c.285C>G (p.Ala95=)
|
|
|
NM_000320.3(QDPR):c.295+19C>T
|
|
|
NM_000320.3(QDPR):c.296-14T>C
|
|
|
NM_000320.3(QDPR):c.296-15G>T
|
rs776479029
|
|
NM_000320.3(QDPR):c.296-17A>G
|
|
|
NM_000320.3(QDPR):c.297T>C (p.Ser99=)
|
rs1309099253
|
|
NM_000320.3(QDPR):c.309C>T (p.Asn103=)
|
|
|
NM_000320.3(QDPR):c.312T>C (p.Cys104=)
|
|
|
NM_000320.3(QDPR):c.327G>A (p.Lys109=)
|
|
|
NM_000320.3(QDPR):c.342A>G (p.Thr114=)
|
|
|
NM_000320.3(QDPR):c.345G>T (p.Ser115=)
|
|
|
NM_000320.3(QDPR):c.348C>T (p.Thr116=)
|
|
|
NM_000320.3(QDPR):c.351C>T (p.Ile117=)
|
|
|
NM_000320.3(QDPR):c.354C>T (p.Ser118=)
|
|
|
NM_000320.3(QDPR):c.361C>T (p.Leu121=)
|
|
|
NM_000320.3(QDPR):c.36G>A (p.Arg12=)
|
rs2108999106
|
|
NM_000320.3(QDPR):c.36G>C (p.Arg12=)
|
|
|
NM_000320.3(QDPR):c.378C>A (p.Leu126=)
|
rs2108992993
|
|
NM_000320.3(QDPR):c.390C>A (p.Gly130=)
|
|
|
NM_000320.3(QDPR):c.393C>T (p.Leu131=)
|
|
|
NM_000320.3(QDPR):c.399C>G (p.Thr133=)
|
rs1331138236
|
|
NM_000320.3(QDPR):c.40C>T (p.Leu14=)
|
|
|
NM_000320.3(QDPR):c.420C>G (p.Ala140=)
|
|
|
NM_000320.3(QDPR):c.42G>A (p.Leu14=)
|
|
|
NM_000320.3(QDPR):c.436+11A>G
|
rs1718566849
|
|
NM_000320.3(QDPR):c.436+19A>C
|
|
|
NM_000320.3(QDPR):c.437-10C>G
|
|
|
NM_000320.3(QDPR):c.437-10C>T
|
|
|
NM_000320.3(QDPR):c.437-11C>G
|
|
|
NM_000320.3(QDPR):c.437-15C>G
|
|
|
NM_000320.3(QDPR):c.437-18C>T
|
|
|
NM_000320.3(QDPR):c.437-20A>G
|
|
|
NM_000320.3(QDPR):c.437-5C>A
|
|
|
NM_000320.3(QDPR):c.437-5C>T
|
rs2108987742
|
|
NM_000320.3(QDPR):c.437-9A>G
|
|
|
NM_000320.3(QDPR):c.45G>A (p.Val15=)
|
|
|
NM_000320.3(QDPR):c.468T>C (p.Ala156=)
|
|
|
NM_000320.3(QDPR):c.474C>T (p.His158=)
|
|
|
NM_000320.3(QDPR):c.504C>T (p.Asn168=)
|
|
|
NM_000320.3(QDPR):c.510C>T (p.Gly170=)
|
|
|
NM_000320.3(QDPR):c.516G>A (p.Pro172=)
|
rs549416247
|
|
NM_000320.3(QDPR):c.516G>C (p.Pro172=)
|
rs549416247
|
|
NM_000320.3(QDPR):c.516G>T (p.Pro172=)
|
|
|
NM_000320.3(QDPR):c.519C>G (p.Pro173=)
|
|
|
NM_000320.3(QDPR):c.51C>A (p.Gly17=)
|
|
|
NM_000320.3(QDPR):c.528C>T (p.Ala176=)
|
|
|
NM_000320.3(QDPR):c.531C>A (p.Ala177=)
|
|
|
NM_000320.3(QDPR):c.531C>T (p.Ala177=)
|
|
|
NM_000320.3(QDPR):c.545+14G>A
|
|
|
NM_000320.3(QDPR):c.545+18C>T
|
|
|
NM_000320.3(QDPR):c.545+19C>T
|
|
|
NM_000320.3(QDPR):c.545+8C>G
|
|
|
NM_000320.3(QDPR):c.545+9T>C
|
|
|
NM_000320.3(QDPR):c.546-11G>A
|
|
|
NM_000320.3(QDPR):c.546-20C>G
|
rs2108986777
|
|
NM_000320.3(QDPR):c.546-7A>G
|
|
|
NM_000320.3(QDPR):c.54C>A (p.Gly18=)
|
|
|
NM_000320.3(QDPR):c.553C>T (p.Leu185=)
|
|
|
NM_000320.3(QDPR):c.558T>C (p.Asp186=)
|
|
|
NM_000320.3(QDPR):c.561C>T (p.Thr187=)
|
|
|
NM_000320.3(QDPR):c.564G>A (p.Pro188=)
|
|
|
NM_000320.3(QDPR):c.576A>G (p.Lys192=)
|
|
|
NM_000320.3(QDPR):c.603C>T (p.Ser201=)
|
rs891408281
|
|
NM_000320.3(QDPR):c.60C>A (p.Gly20=)
|
|
|
NM_000320.3(QDPR):c.60C>T (p.Gly20=)
|
|
|
NM_000320.3(QDPR):c.612C>T (p.Pro204=)
|
|
|
NM_000320.3(QDPR):c.618A>G (p.Glu206=)
|
|
|
NM_000320.3(QDPR):c.629+11_629+12del
|
|
|
NM_000320.3(QDPR):c.629+16A>G
|
|
|
NM_000320.3(QDPR):c.629+17T>C
|
rs2108986649
|
|
NM_000320.3(QDPR):c.629+9T>C
|
rs113400069
|
|
NM_000320.3(QDPR):c.630-14A>G
|
|
|
NM_000320.3(QDPR):c.630-15T>C
|
rs781122232
|
|
NM_000320.3(QDPR):c.630-19C>A
|
|
|
NM_000320.3(QDPR):c.630-20A>T
|
|
|
NM_000320.3(QDPR):c.630-23_630-20del
|
|
|
NM_000320.3(QDPR):c.630-4C>A
|
|
|
NM_000320.3(QDPR):c.636C>T (p.Phe212=)
|
rs751389453
|
|
NM_000320.3(QDPR):c.639T>C (p.His213=)
|
|
|
NM_000320.3(QDPR):c.642C>T (p.Asp214=)
|
|
|
NM_000320.3(QDPR):c.666G>A (p.Pro222=)
|
|
|
NM_000320.3(QDPR):c.681A>C (p.Leu227=)
|
|
|
NM_000320.3(QDPR):c.6G>A (p.Ala2=)
|
|
|
NM_000320.3(QDPR):c.711G>A (p.Thr237=)
|
|
|
NM_000320.3(QDPR):c.717C>T (p.Leu239=)
|
|
|
NM_000320.3(QDPR):c.720C>A (p.Thr240=)
|
|
|
NM_000320.3(QDPR):c.75A>C (p.Arg25=)
|
|
|
NM_000320.3(QDPR):c.81G>T (p.Val27=)
|
|
|
NM_000320.3(QDPR):c.90T>C (p.Phe30=)
|
|
|
NM_000329.3(RPE65):c.1017T>C (p.Asn339=)
|
rs780869180
|
|
NM_000329.3(RPE65):c.1020C>T (p.Tyr340=)
|
rs2100817149
|
|
NM_000329.3(RPE65):c.1023A>G (p.Leu341=)
|
|
|
NM_000329.3(RPE65):c.1062A>G (p.Lys354=)
|
rs2100817026
|
|
NM_000329.3(RPE65):c.1065A>G (p.Lys355=)
|
|
|
NM_000329.3(RPE65):c.1071C>G (p.Ala357=)
|
|
|
NM_000329.3(RPE65):c.1072A>C (p.Arg358=)
|
rs1307155552
|
|
NM_000329.3(RPE65):c.1077G>A (p.Lys359=)
|
|
|
NM_000329.3(RPE65):c.108C>T (p.Leu36=)
|
rs749757610
|
|
NM_000329.3(RPE65):c.1098G>A (p.Arg366=)
|
rs764589805
|
|
NM_000329.3(RPE65):c.11+10T>C
|
|
|
NM_000329.3(RPE65):c.11+12T>C
|
|
|
NM_000329.3(RPE65):c.11+13G>A
|
|
|
NM_000329.3(RPE65):c.11+17G>A
|
|
|
NM_000329.3(RPE65):c.11+18A>T
|
|
|
NM_000329.3(RPE65):c.1119T>C (p.Asn373=)
|
|
|
NM_000329.3(RPE65):c.1122T>C (p.Ile374=)
|
|
|
NM_000329.3(RPE65):c.1125C>T (p.Asp375=)
|
rs771869960
|
|
NM_000329.3(RPE65):c.1128+20A>G
|
|
|
NM_000329.3(RPE65):c.1128+7T>C
|
|
|
NM_000329.3(RPE65):c.1129-12C>G
|
|
|
NM_000329.3(RPE65):c.1129-13T>A
|
rs374162988
|
|
NM_000329.3(RPE65):c.1129-16T>G
|
|
|
NM_000329.3(RPE65):c.1129-18T>G
|
|
|
NM_000329.3(RPE65):c.1129-7C>G
|
|
|
NM_000329.3(RPE65):c.1137A>G (p.Thr379=)
|
rs2100808086
|
|
NM_000329.3(RPE65):c.1149A>G (p.Leu383=)
|
rs2100808067
|
|
NM_000329.3(RPE65):c.1152C>G (p.Val384=)
|
rs1571158917
|
|
NM_000329.3(RPE65):c.1158C>T (p.Leu386=)
|
rs2100808030
|
|
NM_000329.3(RPE65):c.1161C>T (p.Pro387=)
|
|
|
NM_000329.3(RPE65):c.1167A>C (p.Thr389=)
|
rs2100807982
|
|
NM_000329.3(RPE65):c.1179A>C (p.Ala393=)
|
|
|
NM_000329.3(RPE65):c.1179A>G (p.Ala393=)
|
|
|
NM_000329.3(RPE65):c.117C>G (p.Thr39=)
|
rs143929144
|
|
NM_000329.3(RPE65):c.1185G>C (p.Leu395=)
|
|
|
NM_000329.3(RPE65):c.12-7A>G
|
rs1645960187
|
|
NM_000329.3(RPE65):c.1209G>A (p.Leu403=)
|
|
|
NM_000329.3(RPE65):c.1215T>A (p.Pro405=)
|
|
|
NM_000329.3(RPE65):c.1218A>G (p.Glu406=)
|
rs1571158792
|
|
NM_000329.3(RPE65):c.1230A>C (p.Ser410=)
|
|
|
NM_000329.3(RPE65):c.1243+14G>A
|
|
|
NM_000329.3(RPE65):c.1243+16G>A
|
|
|
NM_000329.3(RPE65):c.1243+7T>C
|
|
|
NM_000329.3(RPE65):c.1243+8G>A
|
|
|
NM_000329.3(RPE65):c.1243+8G>C
|
|
|
NM_000329.3(RPE65):c.1243+9A>T
|
rs375375768
|
|
NM_000329.3(RPE65):c.1244-19C>A
|
|
|
NM_000329.3(RPE65):c.1244-19C>T
|
|
|
NM_000329.3(RPE65):c.1244-4G>A
|
|
|
NM_000329.3(RPE65):c.1244-4G>T
|
|
|
NM_000329.3(RPE65):c.1244-9A>G
|
rs1042120764
|
|
NM_000329.3(RPE65):c.1245A>G (p.Ala415=)
|
|
|
NM_000329.3(RPE65):c.1248T>C (p.Phe416=)
|
rs780625967
|
|
NM_000329.3(RPE65):c.1251G>A (p.Glu417=)
|
|
|
NM_000329.3(RPE65):c.1254T>C (p.Phe418=)
|
rs756785114
|
|
NM_000329.3(RPE65):c.1269C>T (p.Tyr423=)
|
rs1355323529
|
|
NM_000329.3(RPE65):c.126C>G (p.Leu42=)
|
rs148973921
|
|
NM_000329.3(RPE65):c.1278T>C (p.Tyr426=)
|
|
|
NM_000329.3(RPE65):c.1302G>T (p.Ala434=)
|
|
|
NM_000329.3(RPE65):c.1305T>C (p.Tyr435=)
|
|
|
NM_000329.3(RPE65):c.1314C>A (p.Gly438=)
|
|
|
NM_000329.3(RPE65):c.1335T>C (p.Asp445=)
|
rs746506594
|
|
NM_000329.3(RPE65):c.1338+10C>T
|
rs2100807260
|
|
NM_000329.3(RPE65):c.1338+11C>G
|
|
|
NM_000329.3(RPE65):c.1338+13T>C
|
|
|
NM_000329.3(RPE65):c.1338+15T>C
|
|
|
NM_000329.3(RPE65):c.1338+17A>T
|
|
|
NM_000329.3(RPE65):c.1338+19T>A
|
|
|
NM_000329.3(RPE65):c.1338+9T>A
|
rs2100807262
|
|
NM_000329.3(RPE65):c.1339-11C>T
|
|
|
NM_000329.3(RPE65):c.1339-4del
|
|
|
NM_000329.3(RPE65):c.1341C>G (p.Leu447=)
|
rs2100807097
|
|
NM_000329.3(RPE65):c.1395A>G (p.Ser465=)
|
rs764923358
|
|
NM_000329.3(RPE65):c.1401A>G (p.Pro467=)
|
|
|
NM_000329.3(RPE65):c.1450+10G>A
|
rs1009277050
|
|
NM_000329.3(RPE65):c.1450+13A>C
|
rs371783875
|
|
NM_000329.3(RPE65):c.1450+13A>G
|
|
|
NM_000329.3(RPE65):c.1450+19G>C
|
|
|
NM_000329.3(RPE65):c.1450+20T>C
|
|
|
NM_000329.3(RPE65):c.1450+20T>G
|
|
|
NM_000329.3(RPE65):c.1451-6A>T
|
rs2100805367
|
|
NM_000329.3(RPE65):c.1451-9G>C
|
rs1291761354
|
|
NM_000329.3(RPE65):c.1455A>G (p.Val485=)
|
|
|
NM_000329.3(RPE65):c.1458T>A (p.Val486=)
|
rs2100805312
|
|
NM_000329.3(RPE65):c.1461G>C (p.Leu487=)
|
|
|
NM_000329.3(RPE65):c.1464T>C (p.Ser488=)
|
rs769814819
|
|
NM_000329.3(RPE65):c.1473G>A (p.Val491=)
|
|
|
NM_000329.3(RPE65):c.1476C>T (p.Ser492=)
|
rs778912170
|
|
NM_000329.3(RPE65):c.1491A>G (p.Gln497=)
|
rs766848627
|
|
NM_000329.3(RPE65):c.1509G>A (p.Leu503=)
|
rs750750345
|
|
NM_000329.3(RPE65):c.1513C>T (p.Leu505=)
|
|
|
NM_000329.3(RPE65):c.1515G>A (p.Leu505=)
|
rs2100805164
|
|
NM_000329.3(RPE65):c.1518T>C (p.Asn506=)
|
rs2100805159
|
|
NM_000329.3(RPE65):c.1524G>A (p.Lys508=)
|
rs369335287
|
|
NM_000329.3(RPE65):c.1528T>C (p.Leu510=)
|
|
|
NM_000329.3(RPE65):c.1545G>A (p.Arg515=)
|
rs2100805075
|
|
NM_000329.3(RPE65):c.1554G>A (p.Val518=)
|
|
|
NM_000329.3(RPE65):c.1560T>A (p.Ile520=)
|
|
|
NM_000329.3(RPE65):c.1563C>T (p.Asn521=)
|
|
|
NM_000329.3(RPE65):c.156T>G (p.Val52=)
|
rs1645945856
|
|
NM_000329.3(RPE65):c.1578T>C (p.Phe526=)
|
|
|
NM_000329.3(RPE65):c.1584A>G (p.Gly528=)
|
rs2100804966
|
|
NM_000329.3(RPE65):c.1587G>C (p.Leu529=)
|
|
|
NM_000329.3(RPE65):c.1596A>G (p.Lys532=)
|
|
|
NM_000329.3(RPE65):c.162T>C (p.Ser54=)
|
rs2100831350
|
|
NM_000329.3(RPE65):c.174C>T (p.Tyr58=)
|
|
|
NM_000329.3(RPE65):c.180G>C (p.Leu60=)
|
rs2100831297
|
|
NM_000329.3(RPE65):c.198C>T (p.Leu66=)
|
|
|
NM_000329.3(RPE65):c.199C>T (p.Leu67=)
|
rs1219400458
|
|
NM_000329.3(RPE65):c.213C>T (p.Asp71=)
|
rs1297442944
|
|
NM_000329.3(RPE65):c.219A>G (p.Lys73=)
|
|
|
NM_000329.3(RPE65):c.225A>G (p.Gly75=)
|
|
|
NM_000329.3(RPE65):c.225A>T (p.Gly75=)
|
|
|
NM_000329.3(RPE65):c.234A>G (p.Thr78=)
|
|
|
NM_000329.3(RPE65):c.240C>T (p.His80=)
|
|
|
NM_000329.3(RPE65):c.243A>G (p.Arg81=)
|
|
|
NM_000329.3(RPE65):c.245+11del
|
|
|
NM_000329.3(RPE65):c.245+18G>A
|
|
|
NM_000329.3(RPE65):c.245+7C>G
|
|
|
NM_000329.3(RPE65):c.246-12A>G
|
|
|
NM_000329.3(RPE65):c.246-24_246-20del
|
rs752554231
|
|
NM_000329.3(RPE65):c.24T>C (p.Pro8=)
|
rs2100834378
|
|
NM_000329.3(RPE65):c.252C>A (p.Ile84=)
|
rs1645931175
|
|
NM_000329.3(RPE65):c.270A>G (p.Val90=)
|
|
|
NM_000329.3(RPE65):c.291G>A (p.Arg97=)
|
rs754533608
|
|
NM_000329.3(RPE65):c.294C>A (p.Ile98=)
|
rs367983478
|
|
NM_000329.3(RPE65):c.294C>T (p.Ile98=)
|
rs367983478
|
|
NM_000329.3(RPE65):c.297C>T (p.Val99=)
|
rs2100828363
|
|
NM_000329.3(RPE65):c.303A>G (p.Thr101=)
|
rs2100828338
|
|
NM_000329.3(RPE65):c.318T>C (p.Cys106=)
|
|
|
NM_000329.3(RPE65):c.353+10C>T
|
rs2100828143
|
|
NM_000329.3(RPE65):c.353+11C>G
|
|
|
NM_000329.3(RPE65):c.353+14A>C
|
|
|
NM_000329.3(RPE65):c.353+15A>G
|
|
|
NM_000329.3(RPE65):c.353+20A>T
|
|
|
NM_000329.3(RPE65):c.353+8A>C
|
|
|
NM_000329.3(RPE65):c.353+8A>G
|
rs1645929465
|
|
NM_000329.3(RPE65):c.354-10G>T
|
|
|
NM_000329.3(RPE65):c.354-15C>T
|
|
|
NM_000329.3(RPE65):c.366C>T (p.Tyr122=)
|
rs1479443954
|
|
NM_000329.3(RPE65):c.372A>C (p.Arg124=)
|
rs2100827903
|
|
NM_000329.3(RPE65):c.390C>T (p.Asp130=)
|
rs2100827854
|
|
NM_000329.3(RPE65):c.414A>C (p.Pro138=)
|
rs777483146
|
|
NM_000329.3(RPE65):c.417G>T (p.Val139=)
|
rs536073181
|
|
NM_000329.3(RPE65):c.420G>A (p.Gly140=)
|
rs1571170264
|
|
NM_000329.3(RPE65):c.435T>C (p.Ala145=)
|
rs2100827657
|
|
NM_000329.3(RPE65):c.447C>A (p.Thr149=)
|
|
|
NM_000329.3(RPE65):c.447C>T (p.Thr149=)
|
rs750892483
|
|
NM_000329.3(RPE65):c.456T>C (p.Ile152=)
|
|
|
NM_000329.3(RPE65):c.459A>C (p.Thr153=)
|
|
|
NM_000329.3(RPE65):c.471A>T (p.Pro157=)
|
|
|
NM_000329.3(RPE65):c.495+12T>C
|
|
|
NM_000329.3(RPE65):c.495+13G>A
|
|
|
NM_000329.3(RPE65):c.495+7C>T
|
|
|
NM_000329.3(RPE65):c.495+8A>G
|
rs780898366
|
|
NM_000329.3(RPE65):c.496-12T>C
|
|
|
NM_000329.3(RPE65):c.496-19A>G
|
|
|
NM_000329.3(RPE65):c.498T>C (p.Val166=)
|
|
|
NM_000329.3(RPE65):c.501T>C (p.Asp167=)
|
rs2100821961
|
|
NM_000329.3(RPE65):c.513T>C (p.Tyr171=)
|
|
|
NM_000329.3(RPE65):c.528G>A (p.Gly176=)
|
|
|
NM_000329.3(RPE65):c.528G>C (p.Gly176=)
|
|
|
NM_000329.3(RPE65):c.576T>C (p.Ile192=)
|
rs747122876
|
|
NM_000329.3(RPE65):c.579T>G (p.Gly193=)
|
rs2100821713
|
|
NM_000329.3(RPE65):c.609C>T (p.Ala203=)
|
rs61752886
|
|
NM_000329.3(RPE65):c.612C>T (p.Tyr204=)
|
rs1557600983
|
|
NM_000329.3(RPE65):c.627C>A (p.Ile209=)
|
rs1408756289
|
|
NM_000329.3(RPE65):c.633A>G (p.Pro211=)
|
|
|
NM_000329.3(RPE65):c.636G>A (p.Leu212=)
|
|
|
NM_000329.3(RPE65):c.643+15C>A
|
|
|
NM_000329.3(RPE65):c.643+18T>C
|
|
|
NM_000329.3(RPE65):c.643+19C>A
|
|
|
NM_000329.3(RPE65):c.643+20C>T
|
|
|
NM_000329.3(RPE65):c.643+9del
|
|
|
NM_000329.3(RPE65):c.644-13C>T
|
|
|
NM_000329.3(RPE65):c.644-14C>G
|
rs1645886573
|
|
NM_000329.3(RPE65):c.644-14C>T
|
|
|
NM_000329.3(RPE65):c.644-7A>C
|
|
|
NM_000329.3(RPE65):c.644-9T>G
|
rs2100819936
|
|
NM_000329.3(RPE65):c.645C>T (p.Asp215=)
|
rs1202083660
|
|
NM_000329.3(RPE65):c.64C>T (p.Leu22=)
|
rs754228407
|
|
NM_000329.3(RPE65):c.675C>T (p.Ile225=)
|
rs114379164
|
|
NM_000329.3(RPE65):c.678T>C (p.Val226=)
|
|
|
NM_000329.3(RPE65):c.690C>T (p.Pro230=)
|
|
|
NM_000329.3(RPE65):c.69C>T (p.Ser23=)
|
rs1645959675
|
|
NM_000329.3(RPE65):c.708G>A (p.Lys236=)
|
rs2100819732
|
|
NM_000329.3(RPE65):c.711A>G (p.Pro237=)
|
|
|
NM_000329.3(RPE65):c.714T>C (p.Ser238=)
|
rs1159440503
|
|
NM_000329.3(RPE65):c.723T>C (p.His241=)
|
|
|
NM_000329.3(RPE65):c.725+12G>T
|
|
|
NM_000329.3(RPE65):c.725+19A>G
|
|
|
NM_000329.3(RPE65):c.725+20T>C
|
|
|
NM_000329.3(RPE65):c.725+8G>A
|
rs1286528844
|
|
NM_000329.3(RPE65):c.725+8G>C
|
rs1286528844
|
|
NM_000329.3(RPE65):c.725+9A>G
|
rs111518661
|
|
NM_000329.3(RPE65):c.726-13T>C
|
|
|
NM_000329.3(RPE65):c.726-16T>C
|
rs2100819317
|
|
NM_000329.3(RPE65):c.726-17T>C
|
|
|
NM_000329.3(RPE65):c.726-20C>T
|
|
|
NM_000329.3(RPE65):c.72G>A (p.Ser24=)
|
rs1282164855
|
|
NM_000329.3(RPE65):c.72G>C (p.Ser24=)
|
rs1282164855
|
|
NM_000329.3(RPE65):c.72G>T (p.Ser24=)
|
|
|
NM_000329.3(RPE65):c.735G>C (p.Leu245=)
|
rs2100819271
|
|
NM_000329.3(RPE65):c.744C>T (p.Asn248=)
|
rs1343005273
|
|
NM_000329.3(RPE65):c.768A>C (p.Pro256=)
|
|
|
NM_000329.3(RPE65):c.786C>T (p.Phe262=)
|
|
|
NM_000329.3(RPE65):c.78C>T (p.Leu26=)
|
|
|
NM_000329.3(RPE65):c.798T>A (p.Ser266=)
|
rs1645882700
|
|
NM_000329.3(RPE65):c.819C>T (p.Ala273=)
|
rs2100819102
|
|
NM_000329.3(RPE65):c.84T>C (p.Ala28=)
|
|
|
NM_000329.3(RPE65):c.852C>T (p.Thr284=)
|
|
|
NM_000329.3(RPE65):c.858+10A>C
|
rs2100818982
|
|
NM_000329.3(RPE65):c.858+13T>C
|
rs2100818973
|
|
NM_000329.3(RPE65):c.858+14A>G
|
|
|
NM_000329.3(RPE65):c.858+15T>C
|
|
|
NM_000329.3(RPE65):c.859-13C>T
|
|
|
NM_000329.3(RPE65):c.859-17T>G
|
rs1418885901
|
|
NM_000329.3(RPE65):c.859-19A>G
|
|
|
NM_000329.3(RPE65):c.859-4C>G
|
rs1571165470
|
|
NM_000329.3(RPE65):c.879C>T (p.Asp293=)
|
|
|
NM_000329.3(RPE65):c.87T>C (p.His29=)
|
|
|
NM_000329.3(RPE65):c.882A>G (p.Lys294=)
|
rs1381189679
|
|
NM_000329.3(RPE65):c.885A>G (p.Lys295=)
|
|
|
NM_000329.3(RPE65):c.90A>G (p.Val30=)
|
rs2100834158
|
|
NM_000329.3(RPE65):c.94+10G>C
|
|
|
NM_000329.3(RPE65):c.94+10G>T
|
rs777879312
|
|
NM_000329.3(RPE65):c.94+11C>A
|
|
|
NM_000329.3(RPE65):c.94+13C>T
|
|
|
NM_000329.3(RPE65):c.94+14A>G
|
|
|
NM_000329.3(RPE65):c.94+15T>C
|
|
|
NM_000329.3(RPE65):c.94+17T>A
|
|
|
NM_000329.3(RPE65):c.94+18T>G
|
rs748142481
|
|
NM_000329.3(RPE65):c.94+9C>T
|
rs747174742
|
|
NM_000329.3(RPE65):c.945C>T (p.Ile315=)
|
|
|
NM_000329.3(RPE65):c.948C>T (p.Asn316=)
|
rs2100818448
|
|
NM_000329.3(RPE65):c.95-12C>A
|
|
|
NM_000329.3(RPE65):c.95-13C>T
|
|
|
NM_000329.3(RPE65):c.95-14C>G
|
|
|
NM_000329.3(RPE65):c.95-14C>T
|
|
|
NM_000329.3(RPE65):c.95-15_95-13dup
|
|
|
NM_000329.3(RPE65):c.95-18G>C
|
|
|
NM_000329.3(RPE65):c.95-5C>T
|
rs2100831568
|
|
NM_000329.3(RPE65):c.95-8C>T
|
|
|
NM_000329.3(RPE65):c.951C>T (p.Thr317=)
|
rs1645880052
|
|
NM_000329.3(RPE65):c.954T>C (p.Tyr318=)
|
rs1444997062
|
|
NM_000329.3(RPE65):c.960C>T (p.Asp320=)
|
|
|
NM_000329.3(RPE65):c.963T>C (p.Asn321=)
|
|
|
NM_000329.3(RPE65):c.966G>A (p.Gly322=)
|
rs1400399381
|
|
NM_000329.3(RPE65):c.96C>G (p.Gly32=)
|
rs2100831551
|
|
NM_000329.3(RPE65):c.972G>C (p.Leu324=)
|
|
|
NM_000329.3(RPE65):c.972G>T (p.Leu324=)
|
rs2100818359
|
|
NM_000329.3(RPE65):c.975T>C (p.Ile325=)
|
rs761227832
|
|
NM_000329.3(RPE65):c.981T>C (p.Asp327=)
|
rs2100818330
|
|
NM_000329.3(RPE65):c.996A>G (p.Lys332=)
|
rs2100818284
|
|
NM_000329.3(RPE65):c.998+11A>G
|
|
|
NM_000329.3(RPE65):c.998+12C>T
|
|
|
NM_000329.3(RPE65):c.998+13A>C
|
|
|
NM_000329.3(RPE65):c.998+15T>C
|
|
|
NM_000329.3(RPE65):c.998+16G>A
|
|
|
NM_000329.3(RPE65):c.998+20A>G
|
|
|
NM_000329.3(RPE65):c.999-10_999-9del
|
rs2100817210
|
|
NM_000329.3(RPE65):c.999-12T>C
|
|
|
NM_000329.3(RPE65):c.999-17A>G
|
|
|
NM_000329.3(RPE65):c.999-7T>C
|
|
|
NM_000329.3(RPE65):c.99G>A (p.Arg33=)
|
|
|
NM_000341.4(SLC3A1):c.1012-16G>A
|
|
|
NM_000341.4(SLC3A1):c.1012-17C>T
|
|
|
NM_000341.4(SLC3A1):c.1136+9C>A
|
|
|
NM_000341.4(SLC3A1):c.1137-18C>G
|
|
|
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=)
|
rs886056069
|
|
NM_000341.4(SLC3A1):c.1263G>T (p.Gly421=)
|
|
|
NM_000341.4(SLC3A1):c.1332+18C>T
|
|
|
NM_000341.4(SLC3A1):c.1365G>A (p.Ser455=)
|
|
|
NM_000341.4(SLC3A1):c.1365G>T (p.Ser455=)
|
|
|
NM_000341.4(SLC3A1):c.1374G>C (p.Gly458=)
|
|
|
NM_000341.4(SLC3A1):c.141C>T (p.Ser47=)
|
|
|
NM_000341.4(SLC3A1):c.1440T>C (p.Tyr480=)
|
|
|
NM_000341.4(SLC3A1):c.1506C>A (p.Thr502=)
|
|
|
NM_000341.4(SLC3A1):c.1506C>T (p.Thr502=)
|
|
|
NM_000341.4(SLC3A1):c.1618-16T>C
|
|
|
NM_000341.4(SLC3A1):c.1618-5A>T
|
|
|
NM_000341.4(SLC3A1):c.1653A>G (p.Leu551=)
|
|
|
NM_000341.4(SLC3A1):c.1756C>T (p.Leu586=)
|
|
|
NM_000341.4(SLC3A1):c.1836G>C (p.Ser612=)
|
rs376256364
|
|
NM_000341.4(SLC3A1):c.183C>T (p.Gly61=)
|
rs748832562
|
|
NM_000341.4(SLC3A1):c.195T>C (p.Tyr65=)
|
|
|
NM_000341.4(SLC3A1):c.1974C>A (p.Arg658=)
|
|
|
NM_000341.4(SLC3A1):c.2022T>C (p.Tyr674=)
|
|
|
NM_000341.4(SLC3A1):c.327C>G (p.Ala109=)
|
|
|
NM_000341.4(SLC3A1):c.339G>A (p.Lys113=)
|
|
|
NM_000341.4(SLC3A1):c.360G>A (p.Glu120=)
|
|
|
NM_000341.4(SLC3A1):c.363G>A (p.Gly121=)
|
rs1671332631
|
|
NM_000341.4(SLC3A1):c.431-11T>G
|
|
|
NM_000341.4(SLC3A1):c.531T>A (p.Val177=)
|
|
|
NM_000341.4(SLC3A1):c.567G>C (p.Thr189=)
|
rs143195837
|
|
NM_000341.4(SLC3A1):c.610+14A>G
|
|
|
NM_000341.4(SLC3A1):c.63C>T (p.Asn21=)
|
rs1313555896
|
|
NM_000341.4(SLC3A1):c.766-4C>G
|
|
|
NM_000341.4(SLC3A1):c.789T>C (p.Ser263=)
|
|
|
NM_000341.4(SLC3A1):c.801C>T (p.Asp267=)
|
|
|
NM_000341.4(SLC3A1):c.892-13T>G
|
|
|
NM_000353.3(TAT):c.1002C>T (p.Thr334=)
|
|
|
NM_000353.3(TAT):c.1017C>T (p.Tyr339=)
|
rs2044192494
|
|
NM_000353.3(TAT):c.1020C>T (p.His340=)
|
|
|
NM_000353.3(TAT):c.1038C>G (p.Leu346=)
|
|
|
NM_000353.3(TAT):c.1041+13C>T
|
|
|
NM_000353.3(TAT):c.1041+14C>T
|
|
|
NM_000353.3(TAT):c.1041+17C>T
|
|
|
NM_000353.3(TAT):c.1041+19C>G
|
|
|
NM_000353.3(TAT):c.1041+19C>T
|
|
|
NM_000353.3(TAT):c.1042-10C>T
|
rs2145230359
|
|
NM_000353.3(TAT):c.1042-12del
|
|
|
NM_000353.3(TAT):c.1042-15T>C
|
|
|
NM_000353.3(TAT):c.1042-16T>C
|
|
|
NM_000353.3(TAT):c.1042-5del
|
rs2145230340
|
|
NM_000353.3(TAT):c.1042-6T>G
|
|
|
NM_000353.3(TAT):c.1042-9T>G
|
rs2145230358
|
|
NM_000353.3(TAT):c.1047T>C (p.Asn349=)
|
|
|
NM_000353.3(TAT):c.1062T>C (p.Tyr354=)
|
rs2145230300
|
|
NM_000353.3(TAT):c.1065G>A (p.Gly355=)
|
rs2145230298
|
|
NM_000353.3(TAT):c.1068G>A (p.Ala356=)
|
rs202010343
|
|
NM_000353.3(TAT):c.1068G>T (p.Ala356=)
|
rs202010343
|
|
NM_000353.3(TAT):c.1069T>C (p.Leu357=)
|
rs2145230289
|
|
NM_000353.3(TAT):c.1098C>A (p.Val366=)
|
|
|
NM_000353.3(TAT):c.1098C>G (p.Val366=)
|
|
|
NM_000353.3(TAT):c.1098C>T (p.Val366=)
|
rs1019496970
|
|
NM_000353.3(TAT):c.1113T>G (p.Ala371=)
|
rs2145230234
|
|
NM_000353.3(TAT):c.1119C>T (p.Tyr373=)
|
rs2044188170
|
|
NM_000353.3(TAT):c.1122C>T (p.Leu374=)
|
|
|
NM_000353.3(TAT):c.1125+10T>A
|
|
|
NM_000353.3(TAT):c.1125+11G>A
|
|
|
NM_000353.3(TAT):c.1125+15G>A
|
|
|
NM_000353.3(TAT):c.1125+15_1125+17del
|
|
|
NM_000353.3(TAT):c.1125+16G>A
|
|
|
NM_000353.3(TAT):c.1125+8T>C
|
rs2145230218
|
|
NM_000353.3(TAT):c.1125+9G>A
|
rs2145230217
|
|
NM_000353.3(TAT):c.1126-10G>A
|
rs1283939487
|
|
NM_000353.3(TAT):c.1126-15C>T
|
|
|
NM_000353.3(TAT):c.1126-17C>T
|
|
|
NM_000353.3(TAT):c.1126-6G>T
|
rs2044181609
|
|
NM_000353.3(TAT):c.1126-8T>C
|
|
|
NM_000353.3(TAT):c.1131A>C (p.Gly377=)
|
rs1401197763
|
|
NM_000353.3(TAT):c.1143A>G (p.Glu381=)
|
|
|
NM_000353.3(TAT):c.1152A>C (p.Pro384=)
|
rs764717482
|
|
NM_000353.3(TAT):c.1152A>G (p.Pro384=)
|
rs764717482
|
|
NM_000353.3(TAT):c.1155A>G (p.Glu385=)
|
rs1218085116
|
|
NM_000353.3(TAT):c.1170G>T (p.Val390=)
|
rs2145229327
|
|
NM_000353.3(TAT):c.1185G>A (p.Arg395=)
|
|
|
NM_000353.3(TAT):c.1203T>G (p.Ser401=)
|
rs2145229287
|
|
NM_000353.3(TAT):c.1206C>T (p.Val402=)
|
rs2145229284
|
|
NM_000353.3(TAT):c.1209C>T (p.His403=)
|
rs2145229277
|
|
NM_000353.3(TAT):c.1221A>G (p.Ala407=)
|
|
|
NM_000353.3(TAT):c.1224+11G>T
|
|
|
NM_000353.3(TAT):c.1224+8C>T
|
|
|
NM_000353.3(TAT):c.1224+9_1224+10del
|
rs2145229246
|
|
NM_000353.3(TAT):c.1225-10C>G
|
|
|
NM_000353.3(TAT):c.1225-12T>C
|
|
|
NM_000353.3(TAT):c.1225-15C>T
|
|
|
NM_000353.3(TAT):c.1233G>A (p.Glu411=)
|
rs775290589
|
|
NM_000353.3(TAT):c.1245C>T (p.Phe415=)
|
|
|
NM_000353.3(TAT):c.1248C>T (p.Ile416=)
|
rs1179266660
|
|
NM_000353.3(TAT):c.1263A>C (p.Thr421=)
|
rs753180999
|
|
NM_000353.3(TAT):c.1266C>T (p.Val422=)
|
|
|
NM_000353.3(TAT):c.1282C>T (p.Leu428=)
|
|
|
NM_000353.3(TAT):c.1293C>T (p.Cys431=)
|
rs2044177266
|
|
NM_000353.3(TAT):c.1299G>C (p.Arg433=)
|
rs765229505
|
|
NM_000353.3(TAT):c.1311C>T (p.Phe437=)
|
|
|
NM_000353.3(TAT):c.1329T>C (p.His443=)
|
rs529616700
|
|
NM_000353.3(TAT):c.1332T>C (p.Cys444=)
|
|
|
NM_000353.3(TAT):c.135C>A (p.Pro45=)
|
|
|
NM_000353.3(TAT):c.147C>G (p.Ala49=)
|
rs370213921
|
|
NM_000353.3(TAT):c.159C>T (p.Phe53=)
|
rs748718875
|
|
NM_000353.3(TAT):c.210C>T (p.Asn70=)
|
rs2145235930
|
|
NM_000353.3(TAT):c.216C>A (p.Thr72=)
|
rs759619191
|
|
NM_000353.3(TAT):c.216C>T (p.Thr72=)
|
|
|
NM_000353.3(TAT):c.235+10G>A
|
|
|
NM_000353.3(TAT):c.235+12A>G
|
|
|
NM_000353.3(TAT):c.235+14A>C
|
|
|
NM_000353.3(TAT):c.235+14A>G
|
|
|
NM_000353.3(TAT):c.235+18C>T
|
|
|
NM_000353.3(TAT):c.236-11C>T
|
|
|
NM_000353.3(TAT):c.236-14C>G
|
|
|
NM_000353.3(TAT):c.236-17T>C
|
|
|
NM_000353.3(TAT):c.236-19_236-18del
|
|
|
NM_000353.3(TAT):c.236-6A>G
|
|
|
NM_000353.3(TAT):c.236-6A>T
|
rs2145235741
|
|
NM_000353.3(TAT):c.236-9C>T
|
|
|
NM_000353.3(TAT):c.237G>A (p.Gly79=)
|
rs2145235734
|
|
NM_000353.3(TAT):c.240C>T (p.Asp80=)
|
|
|
NM_000353.3(TAT):c.246T>G (p.Thr82=)
|
|
|
NM_000353.3(TAT):c.249G>A (p.Val83=)
|
rs2145235720
|
|
NM_000353.3(TAT):c.258C>T (p.Asn86=)
|
rs2145235708
|
|
NM_000353.3(TAT):c.276A>G (p.Glu92=)
|
|
|
NM_000353.3(TAT):c.309G>C (p.Ser103=)
|
rs78302875
|
|
NM_000353.3(TAT):c.312C>G (p.Gly104=)
|
rs1597055707
|
|
NM_000353.3(TAT):c.318T>C (p.Tyr106=)
|
|
|
NM_000353.3(TAT):c.321T>C (p.Asn107=)
|
rs2145235638
|
|
NM_000353.3(TAT):c.327T>C (p.Tyr109=)
|
rs2145235630
|
|
NM_000353.3(TAT):c.330C>T (p.Ala110=)
|
|
|
NM_000353.3(TAT):c.340+13T>C
|
|
|
NM_000353.3(TAT):c.340+19T>A
|
|
|
NM_000353.3(TAT):c.340+20C>A
|
|
|
NM_000353.3(TAT):c.340+8C>T
|
|
|
NM_000353.3(TAT):c.341-11T>C
|
|
|
NM_000353.3(TAT):c.341-13T>C
|
|
|
NM_000353.3(TAT):c.341-16C>T
|
|
|
NM_000353.3(TAT):c.341-18T>C
|
|
|
NM_000353.3(TAT):c.341-8T>C
|
|
|
NM_000353.3(TAT):c.341-8T>G
|
|
|
NM_000353.3(TAT):c.342C>T (p.Gly114=)
|
|
|
NM_000353.3(TAT):c.345C>T (p.Phe115=)
|
|
|
NM_000353.3(TAT):c.348A>G (p.Leu116=)
|
rs1020645107
|
|
NM_000353.3(TAT):c.363G>A (p.Glu121=)
|
|
|
NM_000353.3(TAT):c.375T>C (p.Tyr125=)
|
|
|
NM_000353.3(TAT):c.390G>A (p.Glu130=)
|
|
|
NM_000353.3(TAT):c.408+16del
|
|
|
NM_000353.3(TAT):c.408+19A>G
|
|
|
NM_000353.3(TAT):c.408+20C>T
|
|
|
NM_000353.3(TAT):c.408+7_408+9dup
|
|
|
NM_000353.3(TAT):c.408+9T>C
|
rs2044217374
|
|
NM_000353.3(TAT):c.409-11T>G
|
|
|
NM_000353.3(TAT):c.409-17T>C
|
|
|
NM_000353.3(TAT):c.409-18C>G
|
|
|
NM_000353.3(TAT):c.409-4A>G
|
|
|
NM_000353.3(TAT):c.409-8C>G
|
|
|
NM_000353.3(TAT):c.429C>T (p.Gly143=)
|
|
|
NM_000353.3(TAT):c.441T>C (p.Ala147=)
|
rs1033713332
|
|
NM_000353.3(TAT):c.444T>C (p.Ile148=)
|
|
|
NM_000353.3(TAT):c.447C>T (p.Asp149=)
|
|
|
NM_000353.3(TAT):c.454T>C (p.Leu152=)
|
|
|
NM_000353.3(TAT):c.463T>C (p.Leu155=)
|
|
|
NM_000353.3(TAT):c.471C>T (p.Asn157=)
|
rs1266113476
|
|
NM_000353.3(TAT):c.474A>T (p.Pro158=)
|
|
|
NM_000353.3(TAT):c.483C>T (p.Asn161=)
|
rs1466419340
|
|
NM_000353.3(TAT):c.486C>T (p.Ile162=)
|
|
|
NM_000353.3(TAT):c.489G>T (p.Leu163=)
|
rs2145232992
|
|
NM_000353.3(TAT):c.48A>G (p.Ser16=)
|
|
|
NM_000353.3(TAT):c.492T>C (p.Val164=)
|
|
|
NM_000353.3(TAT):c.498A>G (p.Arg166=)
|
|
|
NM_000353.3(TAT):c.501T>A (p.Pro167=)
|
|
|
NM_000353.3(TAT):c.501T>C (p.Pro167=)
|
rs761320051
|
|
NM_000353.3(TAT):c.51T>C (p.Ile17=)
|
|
|
NM_000353.3(TAT):c.522T>G (p.Thr174=)
|
rs2145232971
|
|
NM_000353.3(TAT):c.525G>T (p.Leu175=)
|
rs1282159950
|
|
NM_000353.3(TAT):c.531G>A (p.Glu177=)
|
rs763295882
|
|
NM_000353.3(TAT):c.555C>G (p.Leu185=)
|
rs1380448846
|
|
NM_000353.3(TAT):c.558C>T (p.Tyr186=)
|
rs886052274
|
|
NM_000353.3(TAT):c.565T>C (p.Leu189=)
|
|
|
NM_000353.3(TAT):c.567+10T>C
|
|
|
NM_000353.3(TAT):c.567+19T>A
|
rs2145232886
|
|
NM_000353.3(TAT):c.567+19T>C
|
|
|
NM_000353.3(TAT):c.567+19_567+20delinsATTTTAATCATTTTTAATCATTTTAATCATTTTAATTTTTTAAATTAATCATTTAATTTAATCATTTAATTAAATTAATCATTTAATCATTTAATCATTTTAATTTCCA
|
rs2145232881
|
|
NM_000353.3(TAT):c.567+8A>G
|
rs2145232896
|
|
NM_000353.3(TAT):c.568-17C>T
|
|
|
NM_000353.3(TAT):c.568-7T>C
|
|
|
NM_000353.3(TAT):c.57C>T (p.Asp19=)
|
rs777582600
|
|
NM_000353.3(TAT):c.594G>C (p.Leu198=)
|
rs2145232672
|
|
NM_000353.3(TAT):c.594G>T (p.Leu198=)
|
rs2145232672
|
|
NM_000353.3(TAT):c.597A>G (p.Lys199=)
|
rs2145232668
|
|
NM_000353.3(TAT):c.601C>T (p.Leu201=)
|
|
|
NM_000353.3(TAT):c.603G>A (p.Leu201=)
|
rs866913048
|
|
NM_000353.3(TAT):c.606A>G (p.Glu202=)
|
rs2145232646
|
|
NM_000353.3(TAT):c.60G>T (p.Val20=)
|
rs2145236098
|
|
NM_000353.3(TAT):c.648T>C (p.Asn216=)
|
rs2145232597
|
|
NM_000353.3(TAT):c.663T>C (p.Cys221=)
|
rs2145232573
|
|
NM_000353.3(TAT):c.669A>C (p.Ser223=)
|
rs2145232565
|
|
NM_000353.3(TAT):c.669A>G (p.Ser223=)
|
|
|
NM_000353.3(TAT):c.66C>T (p.Val22=)
|
rs2145236094
|
|
NM_000353.3(TAT):c.687T>C (p.His229=)
|
rs1597054169
|
|
NM_000353.3(TAT):c.706+10G>A
|
rs2145232504
|
|
NM_000353.3(TAT):c.706+7C>T
|
|
|
NM_000353.3(TAT):c.707-14T>C
|
rs1336452724
|
|
NM_000353.3(TAT):c.707-15A>G
|
|
|
NM_000353.3(TAT):c.707-9T>A
|
|
|
NM_000353.3(TAT):c.707-9T>C
|
rs1251000492
|
|
NM_000353.3(TAT):c.714A>T (p.Ala238=)
|
rs2145232085
|
|
NM_000353.3(TAT):c.715C>A (p.Arg239=)
|
rs779258482
|
|
NM_000353.3(TAT):c.723T>C (p.Cys241=)
|
|
|
NM_000353.3(TAT):c.726C>T (p.Val242=)
|
rs2145232065
|
|
NM_000353.3(TAT):c.738T>C (p.Ala246=)
|
rs2145232048
|
|
NM_000353.3(TAT):c.74G>T (p.Gly25Val)
|
|
|
NM_000353.3(TAT):c.756C>T (p.Asp252=)
|
|
|
NM_000353.3(TAT):c.759+10G>A
|
|
|
NM_000353.3(TAT):c.759+13C>T
|
|
|
NM_000353.3(TAT):c.759+17A>T
|
|
|
NM_000353.3(TAT):c.759+19A>G
|
|
|
NM_000353.3(TAT):c.759+7C>T
|
rs2145232013
|
|
NM_000353.3(TAT):c.759+8T>G
|
rs761791218
|
|
NM_000353.3(TAT):c.75T>C (p.Gly25=)
|
|
|
NM_000353.3(TAT):c.760-11C>T
|
|
|
NM_000353.3(TAT):c.760-14G>A
|
|
|
NM_000353.3(TAT):c.760-14G>C
|
|
|
NM_000353.3(TAT):c.760-7T>C
|
|
|
NM_000353.3(TAT):c.783A>G (p.Glu261=)
|
|
|
NM_000353.3(TAT):c.795C>T (p.Thr265=)
|
rs2145231319
|
|
NM_000353.3(TAT):c.807T>C (p.Asp269=)
|
rs1275948022
|
|
NM_000353.3(TAT):c.810C>A (p.Val270=)
|
|
|
NM_000353.3(TAT):c.810C>T (p.Val270=)
|
|
|
NM_000353.3(TAT):c.813C>T (p.Pro271=)
|
rs2145231280
|
|
NM_000353.3(TAT):c.849G>A (p.Leu283=)
|
|
|
NM_000353.3(TAT):c.849G>T (p.Leu283=)
|
|
|
NM_000353.3(TAT):c.858C>A (p.Gly286=)
|
rs970559788
|
|
NM_000353.3(TAT):c.864G>A (p.Arg288=)
|
|
|
NM_000353.3(TAT):c.882T>C (p.Ile294=)
|
|
|
NM_000353.3(TAT):c.912+12G>T
|
|
|
NM_000353.3(TAT):c.912+12_912+13insGGG
|
|
|
NM_000353.3(TAT):c.912+16A>C
|
|
|
NM_000353.3(TAT):c.912+20G>C
|
|
|
NM_000353.3(TAT):c.913-11del
|
|
|
NM_000353.3(TAT):c.913-15G>A
|
|
|
NM_000353.3(TAT):c.913-15G>C
|
|
|
NM_000353.3(TAT):c.915C>A (p.Ile305=)
|
|
|
NM_000353.3(TAT):c.921T>C (p.Asp307=)
|
rs200734333
|
|
NM_000353.3(TAT):c.93G>C (p.Pro31=)
|
rs757389308
|
|
NM_000353.3(TAT):c.93G>T (p.Pro31=)
|
rs757389308
|
|
NM_000353.3(TAT):c.945C>T (p.Arg315=)
|
rs2145230758
|
|
NM_000353.3(TAT):c.949T>C (p.Leu317=)
|
|
|
NM_000353.3(TAT):c.960T>C (p.Cys320=)
|
|
|
NM_000353.3(TAT):c.96A>C (p.Gly32=)
|
|
|
NM_000353.3(TAT):c.979C>T (p.Leu327=)
|
|
|
NM_000353.3(TAT):c.993A>G (p.Leu331=)
|
|
|
NM_000353.3(TAT):c.993A>T (p.Leu331=)
|
|
|
NM_000353.3(TAT):c.9A>C (p.Pro3=)
|
|
|
NM_000360.4(TH):c.1008G>A (p.Val336=)
|
rs1450148544
|
|
NM_000360.4(TH):c.1011C>T (p.Pro337=)
|
|
|
NM_000360.4(TH):c.1029C>T (p.Thr343=)
|
rs1590166863
|
|
NM_000360.4(TH):c.1032C>T (p.Phe344=)
|
rs763198914
|
|
NM_000360.4(TH):c.1041C>T (p.Phe347=)
|
rs1318529339
|
|
NM_000360.4(TH):c.1044G>A (p.Ser348=)
|
|
|
NM_000360.4(TH):c.1044G>T (p.Ser348=)
|
|
|
NM_000360.4(TH):c.1047+13C>A
|
|
|
NM_000360.4(TH):c.1047+15C>T
|
|
|
NM_000360.4(TH):c.1047+17G>A
|
|
|
NM_000360.4(TH):c.1048-13C>A
|
|
|
NM_000360.4(TH):c.1048-13C>T
|
|
|
NM_000360.4(TH):c.1048-16C>A
|
|
|
NM_000360.4(TH):c.1048-20T>C
|
|
|
NM_000360.4(TH):c.1048-20_1048-14dup
|
|
|
NM_000360.4(TH):c.1048-4A>G
|
rs2133691226
|
|
NM_000360.4(TH):c.1048-5C>T
|
|
|
NM_000360.4(TH):c.1048-8C>A
|
rs2133691242
|
|
NM_000360.4(TH):c.1057C>T (p.Leu353=)
|
|
|
NM_000360.4(TH):c.1062G>T (p.Ala354=)
|
rs775488051
|
|
NM_000360.4(TH):c.1068G>A (p.Leu356=)
|
|
|
NM_000360.4(TH):c.1068G>T (p.Leu356=)
|
|
|
NM_000360.4(TH):c.1071G>A (p.Gly357=)
|
|
|
NM_000360.4(TH):c.1071G>C (p.Gly357=)
|
rs900683141
|
|
NM_000360.4(TH):c.1077G>C (p.Ser359=)
|
rs759797905
|
|
NM_000360.4(TH):c.1077G>T (p.Ser359=)
|
|
|
NM_000360.4(TH):c.108G>T (p.Gly36=)
|
rs372002058
|
|
NM_000360.4(TH):c.1092G>A (p.Glu364=)
|
rs2133691065
|
|
NM_000360.4(TH):c.1096C>T (p.Leu366=)
|
|
|
NM_000360.4(TH):c.1101C>A (p.Ser367=)
|
rs2133691038
|
|
NM_000360.4(TH):c.1104+10C>A
|
|
|
NM_000360.4(TH):c.1104+11C>G
|
|
|
NM_000360.4(TH):c.1104+15C>T
|
|
|
NM_000360.4(TH):c.1104+19G>T
|
|
|
NM_000360.4(TH):c.1104+9A>T
|
rs1590166246
|
|
NM_000360.4(TH):c.1105-11C>G
|
|
|
NM_000360.4(TH):c.1105-14C>G
|
|
|
NM_000360.4(TH):c.1105-17G>T
|
|
|
NM_000360.4(TH):c.1105-5C>G
|
rs535794692
|
|
NM_000360.4(TH):c.1105-5C>T
|
rs535794692
|
|
NM_000360.4(TH):c.1105-6C>T
|
|
|
NM_000360.4(TH):c.1105-8C>T
|
|
|
NM_000360.4(TH):c.1116C>T (p.Phe372=)
|
|
|
NM_000360.4(TH):c.1119G>A (p.Thr373=)
|
rs143405115
|
|
NM_000360.4(TH):c.1119G>C (p.Thr373=)
|
rs143405115
|
|
NM_000360.4(TH):c.111C>T (p.Arg37=)
|
rs2133700128
|
|
NM_000360.4(TH):c.1131G>A (p.Gly377=)
|
|
|
NM_000360.4(TH):c.1149G>C (p.Gly383=)
|
rs758398302
|
|
NM_000360.4(TH):c.1152G>A (p.Glu384=)
|
|
|
NM_000360.4(TH):c.1155G>A (p.Val385=)
|
|
|
NM_000360.4(TH):c.1170C>G (p.Ala390=)
|
rs199839852
|
|
NM_000360.4(TH):c.1170C>T (p.Ala390=)
|
rs199839852
|
|
NM_000360.4(TH):c.1174C>T (p.Leu392=)
|
rs2133690244
|
|
NM_000360.4(TH):c.1182C>A (p.Ser394=)
|
|
|
NM_000360.4(TH):c.1182C>G (p.Ser394=)
|
rs1590165799
|
|
NM_000360.4(TH):c.1188C>T (p.Tyr396=)
|
rs375428556
|
|
NM_000360.4(TH):c.1194G>A (p.Glu398=)
|
|
|
NM_000360.4(TH):c.1200+7G>T
|
rs1463979447
|
|
NM_000360.4(TH):c.1200+8T>A
|
rs371162830
|
|
NM_000360.4(TH):c.1200+8T>C
|
rs371162830
|
|
NM_000360.4(TH):c.1200+9C>G
|
rs11564717
|
|
NM_000360.4(TH):c.1201-10C>A
|
rs779826328
|
|
NM_000360.4(TH):c.1201-10C>G
|
rs779826328
|
|
NM_000360.4(TH):c.1201-10C>T
|
rs779826328
|
|
NM_000360.4(TH):c.1201-4C>A
|
|
|
NM_000360.4(TH):c.1201-4C>G
|
|
|
NM_000360.4(TH):c.1201-8C>T
|
rs751808349
|
|
NM_000360.4(TH):c.1201-8_1201-6del
|
rs2133689342
|
|
NM_000360.4(TH):c.1203C>T (p.His401=)
|
rs764678799
|
|
NM_000360.4(TH):c.1209G>C (p.Leu403=)
|
|
|
NM_000360.4(TH):c.120C>T (p.Ser40=)
|
rs766048900
|
|
NM_000360.4(TH):c.1215G>A (p.Glu405=)
|
rs1590165298
|
|
NM_000360.4(TH):c.1218G>A (p.Glu406=)
|
rs2133689255
|
|
NM_000360.4(TH):c.1224G>A (p.Glu408=)
|
rs1037422057
|
|
NM_000360.4(TH):c.1227T>C (p.Ile409=)
|
rs546226132
|
|
NM_000360.4(TH):c.1239C>T (p.Asp413=)
|
rs2133689129
|
|
NM_000360.4(TH):c.123C>T (p.Leu41=)
|
rs2133700103
|
|
NM_000360.4(TH):c.1242T>C (p.Pro414=)
|
|
|
NM_000360.4(TH):c.1245G>A (p.Glu415=)
|
|
|
NM_000360.4(TH):c.1260G>A (p.Gln420=)
|
|
|
NM_000360.4(TH):c.126C>T (p.Ile42=)
|
rs755664117
|
|
NM_000360.4(TH):c.1272C>T (p.Asp424=)
|
rs2133689008
|
|
NM_000360.4(TH):c.1278G>T (p.Thr426=)
|
|
|
NM_000360.4(TH):c.1287A>C (p.Ser429=)
|
rs1590165106
|
|
NM_000360.4(TH):c.1290C>G (p.Val430=)
|
rs367962981
|
|
NM_000360.4(TH):c.12C>A (p.Pro4=)
|
rs147131010
|
|
NM_000360.4(TH):c.1308C>T (p.Ser436=)
|
rs2133688882
|
|
NM_000360.4(TH):c.1326C>T (p.Asp442=)
|
rs1262220896
|
|
NM_000360.4(TH):c.1334+10G>A
|
rs2133688753
|
|
NM_000360.4(TH):c.1334+10G>C
|
|
|
NM_000360.4(TH):c.1334+11C>A
|
|
|
NM_000360.4(TH):c.1334+16A>C
|
|
|
NM_000360.4(TH):c.1334+20C>A
|
|
|
NM_000360.4(TH):c.1334+7T>C
|
|
|
NM_000360.4(TH):c.1334+9G>C
|
rs758713265
|
|
NM_000360.4(TH):c.1335-11C>A
|
rs756737351
|
|
NM_000360.4(TH):c.1335-11C>G
|
|
|
NM_000360.4(TH):c.1335-13C>T
|
rs1846025725
|
|
NM_000360.4(TH):c.1335-15C>T
|
|
|
NM_000360.4(TH):c.1335-18T>A
|
|
|
NM_000360.4(TH):c.1335-19C>G
|
|
|
NM_000360.4(TH):c.1335-6C>T
|
|
|
NM_000360.4(TH):c.1341T>C (p.Tyr447=)
|
rs1442860813
|
|
NM_000360.4(TH):c.1344C>T (p.Ala448=)
|
|
|
NM_000360.4(TH):c.1347A>C (p.Ser449=)
|
rs2133686969
|
|
NM_000360.4(TH):c.1350C>A (p.Arg450=)
|
rs1590164188
|
|
NM_000360.4(TH):c.1353C>T (p.Ile451=)
|
|
|
NM_000360.4(TH):c.1359C>T (p.Arg453=)
|
rs2133686922
|
|
NM_000360.4(TH):c.135C>T (p.Ala45=)
|
rs1488262765
|
|
NM_000360.4(TH):c.1383G>C (p.Pro461=)
|
|
|
NM_000360.4(TH):c.1389G>T (p.Thr463=)
|
rs370029424
|
|
NM_000360.4(TH):c.138C>A (p.Arg46=)
|
|
|
NM_000360.4(TH):c.1390C>T (p.Leu464=)
|
rs777421313
|
|
NM_000360.4(TH):c.1404G>C (p.Val468=)
|
rs2133686744
|
|
NM_000360.4(TH):c.1407G>A (p.Leu469=)
|
|
|
NM_000360.4(TH):c.1410C>T (p.Asp470=)
|
rs1846020769
|
|
NM_000360.4(TH):c.1416C>T (p.Pro472=)
|
|
|
NM_000360.4(TH):c.1428G>A (p.Arg476=)
|
rs2133686644
|
|
NM_000360.4(TH):c.1428G>C (p.Arg476=)
|
|
|
NM_000360.4(TH):c.1435C>T (p.Leu479=)
|
rs2133686613
|
|
NM_000360.4(TH):c.1437G>A (p.Leu479=)
|
|
|
NM_000360.4(TH):c.1442G>A (p.Gly481Asp)
|
rs564949885
|
|
NM_000360.4(TH):c.1449G>A (p.Gln483=)
|
rs1846018715
|
|
NM_000360.4(TH):c.1458G>A (p.Leu486=)
|
|
|
NM_000360.4(TH):c.1461C>T (p.Asp487=)
|
rs2133686512
|
|
NM_000360.4(TH):c.1473T>C (p.His491=)
|
rs2133686471
|
|
NM_000360.4(TH):c.1476G>T (p.Ala492=)
|
|
|
NM_000360.4(TH):c.1479G>A (p.Leu493=)
|
|
|
NM_000360.4(TH):c.156G>A (p.Ala52=)
|
rs769897682
|
|
NM_000360.4(TH):c.156G>T (p.Ala52=)
|
rs769897682
|
|
NM_000360.4(TH):c.165A>G (p.Ala55=)
|
rs2133699994
|
|
NM_000360.4(TH):c.174T>A (p.Ala58=)
|
rs2133699946
|
|
NM_000360.4(TH):c.177A>T (p.Ala59=)
|
|
|
NM_000360.4(TH):c.183C>T (p.Pro61=)
|
|
|
NM_000360.4(TH):c.18C>A (p.Ala6=)
|
|
|
NM_000360.4(TH):c.198C>T (p.Asp66=)
|
|
|
NM_000360.4(TH):c.202C>T (p.Leu68=)
|
rs372393199
|
|
NM_000360.4(TH):c.207G>A (p.Glu69=)
|
rs2133699832
|
|
NM_000360.4(TH):c.21C>A (p.Thr7=)
|
rs2133704280
|
|
NM_000360.4(TH):c.231G>A (p.Glu77=)
|
rs2133699752
|
|
NM_000360.4(TH):c.237G>A (p.Lys79=)
|
|
|
NM_000360.4(TH):c.255C>T (p.Leu85=)
|
rs2133699675
|
|
NM_000360.4(TH):c.279C>G (p.Pro93=)
|
|
|
NM_000360.4(TH):c.282G>A (p.Ser94=)
|
rs75348531
|
|
NM_000360.4(TH):c.282G>C (p.Ser94=)
|
rs75348531
|
|
NM_000360.4(TH):c.282G>T (p.Ser94=)
|
|
|
NM_000360.4(TH):c.312+10T>C
|
rs2133699465
|
|
NM_000360.4(TH):c.312+11G>T
|
|
|
NM_000360.4(TH):c.312+12G>A
|
|
|
NM_000360.4(TH):c.312+13C>A
|
|
|
NM_000360.4(TH):c.312+18G>A
|
|
|
NM_000360.4(TH):c.312+19T>G
|
|
|
NM_000360.4(TH):c.313-10G>A
|
|
|
NM_000360.4(TH):c.313-12T>C
|
|
|
NM_000360.4(TH):c.313-13T>C
|
|
|
NM_000360.4(TH):c.313-18C>G
|
|
|
NM_000360.4(TH):c.313-8T>C
|
|
|
NM_000360.4(TH):c.318T>C (p.Phe106=)
|
|
|
NM_000360.4(TH):c.333C>T (p.His111=)
|
rs2133697797
|
|
NM_000360.4(TH):c.339A>G (p.Leu113=)
|
|
|
NM_000360.4(TH):c.345C>G (p.Thr115=)
|
rs1590169970
|
|
NM_000360.4(TH):c.346C>A (p.Arg116=)
|
rs571368528
|
|
NM_000360.4(TH):c.348G>A (p.Arg116=)
|
rs1590169952
|
|
NM_000360.4(TH):c.357G>A (p.Gln119=)
|
|
|
NM_000360.4(TH):c.364C>A (p.Arg122=)
|
rs771610752
|
|
NM_000360.4(TH):c.369T>G (p.Ala123=)
|
rs2133697665
|
|
NM_000360.4(TH):c.375C>G (p.Gly125=)
|
rs2133697637
|
|
NM_000360.4(TH):c.378C>A (p.Pro126=)
|
rs779782825
|
|
NM_000360.4(TH):c.382C>T (p.Leu128=)
|
rs2133697620
|
|
NM_000360.4(TH):c.384G>A (p.Leu128=)
|
rs2133697614
|
|
NM_000360.4(TH):c.390C>T (p.Tyr130=)
|
|
|
NM_000360.4(TH):c.399C>T (p.Arg133=)
|
|
|
NM_000360.4(TH):c.39C>T (p.Gly13=)
|
|
|
NM_000360.4(TH):c.408G>A (p.Val136=)
|
rs1846166191
|
|
NM_000360.4(TH):c.414A>G (p.Arg138=)
|
rs528105731
|
|
NM_000360.4(TH):c.417G>A (p.Gly139=)
|
rs1846165575
|
|
NM_000360.4(TH):c.417G>C (p.Gly139=)
|
|
|
NM_000360.4(TH):c.423G>C (p.Leu141=)
|
|
|
NM_000360.4(TH):c.432G>C (p.Leu144=)
|
rs2133697405
|
|
NM_000360.4(TH):c.432G>T (p.Leu144=)
|
rs2133697405
|
|
NM_000360.4(TH):c.447C>T (p.Arg149=)
|
|
|
NM_000360.4(TH):c.45C>T (p.Arg15=)
|
|
|
NM_000360.4(TH):c.480G>A (p.Gly160=)
|
|
|
NM_000360.4(TH):c.487+18C>G
|
|
|
NM_000360.4(TH):c.487+7C>T
|
|
|
NM_000360.4(TH):c.487+8G>T
|
rs749511812
|
|
NM_000360.4(TH):c.487+9G>T
|
rs2133697188
|
|
NM_000360.4(TH):c.488-11C>T
|
|
|
NM_000360.4(TH):c.488-14C>T
|
|
|
NM_000360.4(TH):c.488-5T>C
|
rs1846153668
|
|
NM_000360.4(TH):c.489C>A (p.Val163=)
|
|
|
NM_000360.4(TH):c.510G>T (p.Val170=)
|
rs2133696498
|
|
NM_000360.4(TH):c.513A>G (p.Ser171=)
|
rs773094935
|
|
NM_000360.4(TH):c.519G>A (p.Leu173=)
|
rs2133696466
|
|
NM_000360.4(TH):c.51C>G (p.Ala17=)
|
rs199645400
|
|
NM_000360.4(TH):c.522C>T (p.Asp174=)
|
|
|
NM_000360.4(TH):c.525G>A (p.Lys175=)
|
|
|
NM_000360.4(TH):c.535C>T (p.Leu179=)
|
rs547467882
|
|
NM_000360.4(TH):c.543C>A (p.Thr181=)
|
rs2133696399
|
|
NM_000360.4(TH):c.546G>A (p.Lys182=)
|
rs2133696386
|
|
NM_000360.4(TH):c.559C>T (p.Leu187=)
|
rs2133696352
|
|
NM_000360.4(TH):c.564C>T (p.Asp188=)
|
|
|
NM_000360.4(TH):c.576+11C>G
|
|
|
NM_000360.4(TH):c.576+18C>T
|
|
|
NM_000360.4(TH):c.576+7G>C
|
|
|
NM_000360.4(TH):c.576+8G>A
|
rs372753775
|
|
NM_000360.4(TH):c.576+8G>T
|
rs372753775
|
|
NM_000360.4(TH):c.577-10C>G
|
|
|
NM_000360.4(TH):c.577-10C>T
|
rs2133695865
|
|
NM_000360.4(TH):c.577-12C>T
|
|
|
NM_000360.4(TH):c.577-13C>T
|
rs1846146910
|
|
NM_000360.4(TH):c.577-15C>T
|
|
|
NM_000360.4(TH):c.577-19G>A
|
|
|
NM_000360.4(TH):c.577-6C>T
|
|
|
NM_000360.4(TH):c.577-7C>T
|
rs2133695862
|
|
NM_000360.4(TH):c.579C>A (p.Gly193=)
|
rs147852210
|
|
NM_000360.4(TH):c.57T>C (p.Ser19=)
|
|
|
NM_000360.4(TH):c.585G>C (p.Ser195=)
|
rs376615793
|
|
NM_000360.4(TH):c.597C>T (p.Tyr199=)
|
|
|
NM_000360.4(TH):c.609G>A (p.Arg203=)
|
|
|
NM_000360.4(TH):c.613C>T (p.Leu205=)
|
rs1846144092
|
|
NM_000360.4(TH):c.627C>T (p.Ile209=)
|
rs202149985
|
|
NM_000360.4(TH):c.630C>T (p.Ala210=)
|
rs2133695646
|
|
NM_000360.4(TH):c.63G>A (p.Leu21=)
|
rs2133704145
|
|
NM_000360.4(TH):c.642G>A (p.Arg214=)
|
rs139579396
|
|
NM_000360.4(TH):c.644+15C>G
|
rs191712999
|
|
NM_000360.4(TH):c.644+16G>A
|
|
|
NM_000360.4(TH):c.644+8G>T
|
|
|
NM_000360.4(TH):c.644+9C>T
|
rs766524314
|
|
NM_000360.4(TH):c.645-11C>T
|
|
|
NM_000360.4(TH):c.645-15T>C
|
|
|
NM_000360.4(TH):c.654G>A (p.Pro218=)
|
rs1489723629
|
|
NM_000360.4(TH):c.660C>G (p.Pro220=)
|
rs1292625376
|
|
NM_000360.4(TH):c.663T>A (p.Arg221=)
|
|
|
NM_000360.4(TH):c.669G>A (p.Glu223=)
|
rs2133694789
|
|
NM_000360.4(TH):c.672C>T (p.Tyr224=)
|
rs1554923218
|
|
NM_000360.4(TH):c.678C>A (p.Ala226=)
|
|
|
NM_000360.4(TH):c.678C>G (p.Ala226=)
|
rs139619260
|
|
NM_000360.4(TH):c.695+11C>A
|
|
|
NM_000360.4(TH):c.695+11C>G
|
|
|
NM_000360.4(TH):c.695+12G>A
|
rs757808045
|
|
NM_000360.4(TH):c.695+12G>C
|
rs757808045
|
|
NM_000360.4(TH):c.695+15C>A
|
rs767877866
|
|
NM_000360.4(TH):c.695+20A>G
|
|
|
NM_000360.4(TH):c.695+8C>T
|
rs2133694676
|
|
NM_000360.4(TH):c.696-10C>G
|
|
|
NM_000360.4(TH):c.696-14C>T
|
|
|
NM_000360.4(TH):c.696-15C>A
|
|
|
NM_000360.4(TH):c.696-4G>A
|
rs750548460
|
|
NM_000360.4(TH):c.696-8_696-7delinsCT
|
rs2133693922
|
|
NM_000360.4(TH):c.69C>T (p.Ala23=)
|
rs2133704123
|
|
NM_000360.4(TH):c.6C>T (p.Pro2=)
|
|
|
NM_000360.4(TH):c.702G>A (p.Glu234=)
|
rs1324380637
|
|
NM_000360.4(TH):c.714G>C (p.Thr238=)
|
rs747783772
|
|
NM_000360.4(TH):c.717G>A (p.Leu239=)
|
rs2133693841
|
|
NM_000360.4(TH):c.723C>T (p.Gly241=)
|
|
|
NM_000360.4(TH):c.732C>T (p.Ala244=)
|
rs1846114858
|
|
NM_000360.4(TH):c.744C>T (p.Cys248=)
|
|
|
NM_000360.4(TH):c.747G>A (p.Gly249=)
|
rs2133693705
|
|
NM_000360.4(TH):c.756G>C (p.Leu252=)
|
rs1381505844
|
|
NM_000360.4(TH):c.759G>A (p.Glu253=)
|
rs769914766
|
|
NM_000360.4(TH):c.75G>A (p.Gln25=)
|
rs2133704107
|
|
NM_000360.4(TH):c.762C>T (p.Ala254=)
|
|
|
NM_000360.4(TH):c.777G>A (p.Glu259=)
|
|
|
NM_000360.4(TH):c.78A>G (p.Ala26=)
|
rs2133704085
|
|
NM_000360.4(TH):c.795G>C (p.Arg265=)
|
|
|
NM_000360.4(TH):c.795G>T (p.Arg265=)
|
rs773688571
|
|
NM_000360.4(TH):c.804T>C (p.Asn268=)
|
rs1312460384
|
|
NM_000360.4(TH):c.807C>A (p.Ile269=)
|
rs763824588
|
|
NM_000360.4(TH):c.807C>T (p.Ile269=)
|
rs763824588
|
|
NM_000360.4(TH):c.810C>G (p.Pro270=)
|
rs1846110224
|
|
NM_000360.4(TH):c.810C>T (p.Pro270=)
|
rs1846110224
|
|
NM_000360.4(TH):c.816G>A (p.Leu272=)
|
|
|
NM_000360.4(TH):c.81G>A (p.Glu27=)
|
rs139742336
|
|
NM_000360.4(TH):c.81G>T (p.Glu27Asp)
|
rs139742336
|
|
NM_000360.4(TH):c.822C>T (p.Asp274=)
|
rs776737582
|
|
NM_000360.4(TH):c.825C>T (p.Val275=)
|
rs1384915680
|
|
NM_000360.4(TH):c.831C>G (p.Arg277=)
|
rs1408483848
|
|
NM_000360.4(TH):c.841+13G>C
|
|
|
NM_000360.4(TH):c.841+14G>C
|
|
|
NM_000360.4(TH):c.841+18G>A
|
|
|
NM_000360.4(TH):c.841+8C>G
|
|
|
NM_000360.4(TH):c.841+9A>G
|
rs2133693348
|
|
NM_000360.4(TH):c.842-12G>A
|
rs1009338117
|
|
NM_000360.4(TH):c.842-16G>C
|
|
|
NM_000360.4(TH):c.842-7C>G
|
|
|
NM_000360.4(TH):c.842-7C>T
|
|
|
NM_000360.4(TH):c.842-9C>G
|
|
|
NM_000360.4(TH):c.849G>C (p.Thr283=)
|
rs892319076
|
|
NM_000360.4(TH):c.858G>A (p.Gln286=)
|
|
|
NM_000360.4(TH):c.864G>A (p.Arg288=)
|
|
|
NM_000360.4(TH):c.864G>C (p.Arg288=)
|
rs2133692970
|
|
NM_000360.4(TH):c.867T>A (p.Pro289=)
|
rs2133692968
|
|
NM_000360.4(TH):c.873C>G (p.Ala291=)
|
rs1176834491
|
|
NM_000360.4(TH):c.876C>T (p.Gly292=)
|
|
|
NM_000360.4(TH):c.885C>A (p.Ser295=)
|
|
|
NM_000360.4(TH):c.891G>A (p.Arg297=)
|
rs1184382907
|
|
NM_000360.4(TH):c.90+20C>A
|
|
|
NM_000360.4(TH):c.90+21C>T
|
|
|
NM_000360.4(TH):c.90+22C>A
|
|
|
NM_000360.4(TH):c.90+22C>T
|
rs753296112
|
|
NM_000360.4(TH):c.90+25C>G
|
|
|
NM_000360.4(TH):c.90+25C>T
|
|
|
NM_000360.4(TH):c.90+26G>A
|
rs191356744
|
|
NM_000360.4(TH):c.90+30G>T
|
|
|
NM_000360.4(TH):c.90+913C>G
|
|
|
NM_000360.4(TH):c.90+9G>A
|
|
|
NM_000360.4(TH):c.90+9G>T
|
|
|
NM_000360.4(TH):c.900G>C (p.Leu300=)
|
|
|
NM_000360.4(TH):c.907C>T (p.Leu303=)
|
rs1229760285
|
|
NM_000360.4(TH):c.909G>A (p.Leu303=)
|
|
|
NM_000360.4(TH):c.909G>C (p.Leu303=)
|
|
|
NM_000360.4(TH):c.91-10G>T
|
|
|
NM_000360.4(TH):c.91-13C>T
|
|
|
NM_000360.4(TH):c.91-16C>T
|
rs2133700285
|
|
NM_000360.4(TH):c.91-19G>A
|
|
|
NM_000360.4(TH):c.91-4A>C
|
rs2133700257
|
|
NM_000360.4(TH):c.91-5C>T
|
|
|
NM_000360.4(TH):c.91-801C>T
|
|
|
NM_000360.4(TH):c.91-806_91-805del
|
|
|
NM_000360.4(TH):c.91-810G>A
|
|
|
NM_000360.4(TH):c.91-810G>C
|
|
|
NM_000360.4(TH):c.91-822A>G
|
rs1023369939
|
|
NM_000360.4(TH):c.91-831C>T
|
rs2133701838
|
|
NM_000360.4(TH):c.91-840A>G
|
|
|
NM_000360.4(TH):c.91-849C>T
|
|
|
NM_000360.4(TH):c.91-870T>C
|
rs748155087
|
|
NM_000360.4(TH):c.91-873C>A
|
rs771992434
|
|
NM_000360.4(TH):c.91-882C>T
|
|
|
NM_000360.4(TH):c.91-885C>T
|
|
|
NM_000360.4(TH):c.91-888G>A
|
rs1227673897
|
|
NM_000360.4(TH):c.91-897C>A
|
|
|
NM_000360.4(TH):c.91-897C>G
|
rs762373165
|
|
NM_000360.4(TH):c.91-8C>T
|
rs1490379030
|
|
NM_000360.4(TH):c.91-903C>A
|
rs1036726742
|
|
NM_000360.4(TH):c.91-904C>T
|
rs1590172417
|
|
NM_000360.4(TH):c.91-907C>T
|
|
|
NM_000360.4(TH):c.912C>T (p.Ala304=)
|
rs1590167156
|
|
NM_000360.4(TH):c.933C>G (p.Thr311=)
|
|
|
NM_000360.4(TH):c.933C>T (p.Thr311=)
|
|
|
NM_000360.4(TH):c.93C>T (p.Ser31=)
|
rs1217960145
|
|
NM_000360.4(TH):c.942C>T (p.Ile314=)
|
|
|
NM_000360.4(TH):c.948C>T (p.His316=)
|
|
|
NM_000360.4(TH):c.951G>A (p.Ala317=)
|
rs1590167106
|
|
NM_000360.4(TH):c.957G>A (p.Ser319=)
|
|
|
NM_000360.4(TH):c.960C>A (p.Pro320=)
|
rs1846099712
|
|
NM_000360.4(TH):c.960C>T (p.Pro320=)
|
|
|
NM_000360.4(TH):c.969C>T (p.Ser323=)
|
rs2133692653
|
|
NM_000360.4(TH):c.96G>C (p.Pro32=)
|
rs202167640
|
|
NM_000360.4(TH):c.977+11G>C
|
|
|
NM_000360.4(TH):c.977+11G>T
|
|
|
NM_000360.4(TH):c.977+13C>A
|
|
|
NM_000360.4(TH):c.977+13C>G
|
|
|
NM_000360.4(TH):c.977+16G>A
|
|
|
NM_000360.4(TH):c.977+18C>A
|
rs753752531
|
|
NM_000360.4(TH):c.977+20G>A
|
|
|
NM_000360.4(TH):c.977+20G>C
|
|
|
NM_000360.4(TH):c.978-11C>T
|
|
|
NM_000360.4(TH):c.978-13C>G
|
|
|
NM_000360.4(TH):c.978-14C>T
|
rs781570336
|
|
NM_000360.4(TH):c.978-15C>G
|
|
|
NM_000360.4(TH):c.978-20C>T
|
|
|
NM_000360.4(TH):c.978-4G>C
|
|
|
NM_000360.4(TH):c.978-4G>T
|
rs1422368520
|
|
NM_000360.4(TH):c.978-5C>T
|
rs1337547432
|
|
NM_000360.4(TH):c.978-6G>A
|
rs75487597
|
|
NM_000360.4(TH):c.978-8A>C
|
rs1846096199
|
|
NM_000360.4(TH):c.993G>A (p.Glu331=)
|
rs2133692335
|
|
NM_000360.4(TH):c.997C>T (p.Leu333=)
|
rs2133692317
|
|
NM_000360.4(TH):c.9C>G (p.Thr3=)
|
rs1419519961
|
|
NM_000387.6(SLC25A20):c.105+15G>T
|
|
|
NM_000387.6(SLC25A20):c.105+18G>T
|
|
|
NM_000387.6(SLC25A20):c.105+7_105+10dup
|
rs775942451
|
|
NM_000387.6(SLC25A20):c.105+8A>T
|
|
|
NM_000387.6(SLC25A20):c.106-11T>C
|
|
|
NM_000387.6(SLC25A20):c.106-20A>C
|
|
|
NM_000387.6(SLC25A20):c.106-20A>G
|
|
|
NM_000387.6(SLC25A20):c.106-4T>C
|
|
|
NM_000387.6(SLC25A20):c.106-7T>C
|
|
|
NM_000387.6(SLC25A20):c.106-8G>A
|
|
|
NM_000387.6(SLC25A20):c.129G>A (p.Pro43=)
|
|
|
NM_000387.6(SLC25A20):c.159T>C (p.Ser53=)
|
|
|
NM_000387.6(SLC25A20):c.171C>T (p.Asp57=)
|
|
|
NM_000387.6(SLC25A20):c.183G>A (p.Lys61=)
|
|
|
NM_000387.6(SLC25A20):c.198+11G>A
|
rs2106665785
|
|
NM_000387.6(SLC25A20):c.198+13T>C
|
|
|
NM_000387.6(SLC25A20):c.198+15C>A
|
|
|
NM_000387.6(SLC25A20):c.198+19G>A
|
rs199753606
|
|
NM_000387.6(SLC25A20):c.198+19G>T
|
|
|
NM_000387.6(SLC25A20):c.198+7A>G
|
|
|
NM_000387.6(SLC25A20):c.199-14G>C
|
|
|
NM_000387.6(SLC25A20):c.199-20G>A
|
|
|
NM_000387.6(SLC25A20):c.199-5del
|
|
|
NM_000387.6(SLC25A20):c.199-6T>A
|
|
|
NM_000387.6(SLC25A20):c.199-7C>T
|
|
|
NM_000387.6(SLC25A20):c.201C>T (p.Gly67=)
|
|
|
NM_000387.6(SLC25A20):c.213A>G (p.Leu71=)
|
|
|
NM_000387.6(SLC25A20):c.237C>T (p.Ile79=)
|
|
|
NM_000387.6(SLC25A20):c.240C>T (p.Ile80=)
|
|
|
NM_000387.6(SLC25A20):c.261C>T (p.Ala87=)
|
|
|
NM_000387.6(SLC25A20):c.27C>T (p.Ser9=)
|
|
|
NM_000387.6(SLC25A20):c.288G>A (p.Gly96=)
|
|
|
NM_000387.6(SLC25A20):c.294A>G (p.Lys98=)
|
|
|
NM_000387.6(SLC25A20):c.297A>G (p.Leu99=)
|
|
|
NM_000387.6(SLC25A20):c.306A>G (p.Lys102=)
|
|
|
NM_000387.6(SLC25A20):c.30G>A (p.Pro10=)
|
|
|
NM_000387.6(SLC25A20):c.324C>T (p.Leu108=)
|
|
|
NM_000387.6(SLC25A20):c.326+11A>G
|
|
|
NM_000387.6(SLC25A20):c.326+15G>T
|
|
|
NM_000387.6(SLC25A20):c.326+8C>T
|
|
|
NM_000387.6(SLC25A20):c.327-20G>A
|
|
|
NM_000387.6(SLC25A20):c.327-7A>G
|
|
|
NM_000387.6(SLC25A20):c.363C>G (p.Gly121=)
|
|
|
NM_000387.6(SLC25A20):c.363C>T (p.Gly121=)
|
|
|
NM_000387.6(SLC25A20):c.375A>G (p.Thr125=)
|
|
|
NM_000387.6(SLC25A20):c.402C>T (p.Ile134=)
|
|
|
NM_000387.6(SLC25A20):c.408C>T (p.Cys136=)
|
|
|
NM_000387.6(SLC25A20):c.411A>G (p.Leu137=)
|
|
|
NM_000387.6(SLC25A20):c.417+9G>A
|
|
|
NM_000387.6(SLC25A20):c.418-14C>A
|
|
|
NM_000387.6(SLC25A20):c.418-8C>T
|
|
|
NM_000387.6(SLC25A20):c.432A>C (p.Ser144=)
|
|
|
NM_000387.6(SLC25A20):c.453T>C (p.Gly151=)
|
|
|
NM_000387.6(SLC25A20):c.486G>A (p.Glu162=)
|
|
|
NM_000387.6(SLC25A20):c.492G>C (p.Gly164=)
|
|
|
NM_000387.6(SLC25A20):c.516T>C (p.Thr172=)
|
|
|
NM_000387.6(SLC25A20):c.519G>C (p.Val173=)
|
|
|
NM_000387.6(SLC25A20):c.51C>A (p.Gly17=)
|
|
|
NM_000387.6(SLC25A20):c.525C>T (p.Thr175=)
|
|
|
NM_000387.6(SLC25A20):c.535+13G>A
|
|
|
NM_000387.6(SLC25A20):c.536-10C>T
|
|
|
NM_000387.6(SLC25A20):c.536-13_536-3del
|
|
|
NM_000387.6(SLC25A20):c.540C>G (p.Val180=)
|
|
|
NM_000387.6(SLC25A20):c.591C>T (p.Phe197=)
|
|
|
NM_000387.6(SLC25A20):c.600G>A (p.Glu200=)
|
|
|
NM_000387.6(SLC25A20):c.609-12G>T
|
|
|
NM_000387.6(SLC25A20):c.609-14T>C
|
|
|
NM_000387.6(SLC25A20):c.609-19T>C
|
|
|
NM_000387.6(SLC25A20):c.609-5T>C
|
|
|
NM_000387.6(SLC25A20):c.612C>T (p.Val204=)
|
|
|
NM_000387.6(SLC25A20):c.654T>A (p.Ile218=)
|
|
|
NM_000387.6(SLC25A20):c.669C>T (p.Asn223=)
|
|
|
NM_000387.6(SLC25A20):c.706C>A (p.Arg236=)
|
|
|
NM_000387.6(SLC25A20):c.718+12G>A
|
|
|
NM_000387.6(SLC25A20):c.718+12G>C
|
|
|
NM_000387.6(SLC25A20):c.719-18T>C
|
|
|
NM_000387.6(SLC25A20):c.719-5C>T
|
|
|
NM_000387.6(SLC25A20):c.72G>T (p.Leu24=)
|
|
|
NM_000387.6(SLC25A20):c.738T>C (p.Pro246=)
|
|
|
NM_000387.6(SLC25A20):c.771C>T (p.Ile257=)
|
|
|
NM_000387.6(SLC25A20):c.783A>C (p.Gly261=)
|
|
|
NM_000387.6(SLC25A20):c.816G>A (p.Val272=)
|
|
|
NM_000387.6(SLC25A20):c.844-12A>T
|
|
|
NM_000387.6(SLC25A20):c.844-5C>T
|
|
|
NM_000387.6(SLC25A20):c.861T>C (p.Phe287=)
|
|
|
NM_000387.6(SLC25A20):c.882T>C (p.Leu294=)
|
|
|
NM_000387.6(SLC25A20):c.901T>C (p.Leu301=)
|
|
|
NM_000387.6(SLC25A20):c.90T>G (p.Pro30=)
|
|
|
NM_000387.6(SLC25A20):c.91C>T (p.Leu31=)
|
|
|
NM_000387.6(SLC25A20):c.99G>A (p.Thr33=)
|
|
|
NM_000387.6(SLC25A20):c.99G>T (p.Thr33=)
|
|
|
NM_000481.4(AMT):c.1002T>C (p.Ser334=)
|
|
|
NM_000481.4(AMT):c.1005C>T (p.Pro335=)
|
rs2107929049
|
|
NM_000481.4(AMT):c.1008C>T (p.Ile336=)
|
|
|
NM_000481.4(AMT):c.1009C>T (p.Leu337=)
|
|
|
NM_000481.4(AMT):c.1011G>C (p.Leu337=)
|
rs1339213409
|
|
NM_000481.4(AMT):c.102C>T (p.Arg34=)
|
|
|
NM_000481.4(AMT):c.1033+10C>T
|
|
|
NM_000481.4(AMT):c.1033+13G>C
|
|
|
NM_000481.4(AMT):c.1033+17A>G
|
|
|
NM_000481.4(AMT):c.1033+18G>A
|
|
|
NM_000481.4(AMT):c.1033+18G>C
|
|
|
NM_000481.4(AMT):c.1034-11T>G
|
|
|
NM_000481.4(AMT):c.1034-16T>C
|
|
|
NM_000481.4(AMT):c.1034-19G>A
|
|
|
NM_000481.4(AMT):c.1034-30_1034-18dup
|
rs2107928803
|
|
NM_000481.4(AMT):c.1034-6T>C
|
|
|
NM_000481.4(AMT):c.1034-8C>T
|
|
|
NM_000481.4(AMT):c.1053C>T (p.Cys351=)
|
rs747901545
|
|
NM_000481.4(AMT):c.1059C>T (p.Ser353=)
|
|
|
NM_000481.4(AMT):c.1062C>G (p.Pro354=)
|
rs377227163
|
|
NM_000481.4(AMT):c.1062C>T (p.Pro354=)
|
rs377227163
|
|
NM_000481.4(AMT):c.1077T>C (p.Asn359=)
|
rs1559527521
|
|
NM_000481.4(AMT):c.1089T>C (p.Gly363=)
|
|
|
NM_000481.4(AMT):c.108A>C (p.Thr36=)
|
rs1179441264
|
|
NM_000481.4(AMT):c.108A>G (p.Thr36=)
|
|
|
NM_000481.4(AMT):c.1098C>T (p.Pro366=)
|
rs1231229906
|
|
NM_000481.4(AMT):c.1104G>A (p.Glu368=)
|
rs767969842
|
|
NM_000481.4(AMT):c.1112G>A (p.Arg371His)
|
rs147006017
|
|
NM_000481.4(AMT):c.1122A>G (p.Thr374=)
|
rs2107928529
|
|
NM_000481.4(AMT):c.1128G>C (p.Leu376=)
|
rs2107928524
|
|
NM_000481.4(AMT):c.1131G>A (p.Leu377=)
|
|
|
NM_000481.4(AMT):c.1134A>C (p.Val378=)
|
rs2107928520
|
|
NM_000481.4(AMT):c.1164A>C (p.Val388=)
|
|
|
NM_000481.4(AMT):c.1191A>C (p.Thr397=)
|
rs2107928409
|
|
NM_000481.4(AMT):c.1197C>T (p.Tyr399=)
|
rs756452579
|
|
NM_000481.4(AMT):c.1203C>T (p.Thr401=)
|
rs1489152600
|
|
NM_000481.4(AMT):c.1206C>G (p.Leu402=)
|
rs2107928357
|
|
NM_000481.4(AMT):c.127C>T (p.Leu43=)
|
|
|
NM_000481.4(AMT):c.12T>A (p.Ala4=)
|
|
|
NM_000481.4(AMT):c.132C>T (p.Ala44=)
|
|
|
NM_000481.4(AMT):c.138C>T (p.Gly46=)
|
|
|
NM_000481.4(AMT):c.150G>A (p.Val50=)
|
|
|
NM_000481.4(AMT):c.153G>T (p.Ala51=)
|
rs768510463
|
|
NM_000481.4(AMT):c.156T>C (p.Phe52=)
|
rs993993334
|
|
NM_000481.4(AMT):c.159G>C (p.Ala53=)
|
rs201080782
|
|
NM_000481.4(AMT):c.171G>T (p.Leu57=)
|
rs2107937565
|
|
NM_000481.4(AMT):c.186G>C (p.Arg62=)
|
rs2049116342
|
|
NM_000481.4(AMT):c.18T>C (p.Ser6=)
|
|
|
NM_000481.4(AMT):c.216A>G (p.Thr72=)
|
rs2049115116
|
|
NM_000481.4(AMT):c.21G>C (p.Val7=)
|
|
|
NM_000481.4(AMT):c.222G>A (p.Gln74=)
|
rs2107937363
|
|
NM_000481.4(AMT):c.228C>T (p.Cys76=)
|
|
|
NM_000481.4(AMT):c.240C>T (p.Asp80=)
|
rs1316776129
|
|
NM_000481.4(AMT):c.258+10G>A
|
rs2107937238
|
|
NM_000481.4(AMT):c.258+13A>G
|
|
|
NM_000481.4(AMT):c.258+14G>A
|
|
|
NM_000481.4(AMT):c.258+17C>T
|
|
|
NM_000481.4(AMT):c.258+8del
|
|
|
NM_000481.4(AMT):c.259-16T>C
|
|
|
NM_000481.4(AMT):c.259-20G>A
|
|
|
NM_000481.4(AMT):c.259-4C>T
|
rs769933849
|
|
NM_000481.4(AMT):c.259-6C>T
|
rs2049102970
|
|
NM_000481.4(AMT):c.259-8dup
|
rs1195350527
|
|
NM_000481.4(AMT):c.259-9C>T
|
rs2107936124
|
|
NM_000481.4(AMT):c.261C>G (p.Thr87=)
|
|
|
NM_000481.4(AMT):c.270T>C (p.Leu90=)
|
|
|
NM_000481.4(AMT):c.279C>T (p.Asp93=)
|
rs1575308228
|
|
NM_000481.4(AMT):c.282G>A (p.Arg94=)
|
|
|
NM_000481.4(AMT):c.285G>A (p.Val95=)
|
rs2049102202
|
|
NM_000481.4(AMT):c.288G>A (p.Lys96=)
|
|
|
NM_000481.4(AMT):c.289C>T (p.Leu97=)
|
|
|
NM_000481.4(AMT):c.297G>A (p.Glu99=)
|
rs2107935984
|
|
NM_000481.4(AMT):c.303A>G (p.Leu101=)
|
rs756789501
|
|
NM_000481.4(AMT):c.306G>A (p.Val102=)
|
|
|
NM_000481.4(AMT):c.306G>C (p.Val102=)
|
rs964800487
|
|
NM_000481.4(AMT):c.324G>A (p.Glu108=)
|
|
|
NM_000481.4(AMT):c.339+15T>C
|
|
|
NM_000481.4(AMT):c.339+17C>T
|
|
|
NM_000481.4(AMT):c.339+18T>G
|
|
|
NM_000481.4(AMT):c.339+8C>A
|
|
|
NM_000481.4(AMT):c.340-10T>C
|
|
|
NM_000481.4(AMT):c.340-12C>T
|
|
|
NM_000481.4(AMT):c.340-17C>T
|
|
|
NM_000481.4(AMT):c.340-18G>A
|
|
|
NM_000481.4(AMT):c.340-9T>C
|
rs2107933861
|
|
NM_000481.4(AMT):c.340-9del
|
|
|
NM_000481.4(AMT):c.345A>T (p.Thr115=)
|
|
|
NM_000481.4(AMT):c.346C>T (p.Leu116=)
|
|
|
NM_000481.4(AMT):c.351G>A (p.Ser117=)
|
|
|
NM_000481.4(AMT):c.357T>C (p.Phe119=)
|
rs1559529373
|
|
NM_000481.4(AMT):c.360C>T (p.Thr120=)
|
|
|
NM_000481.4(AMT):c.372A>C (p.Gly124=)
|
rs1365568599
|
|
NM_000481.4(AMT):c.381A>G (p.Leu127=)
|
rs2049077607
|
|
NM_000481.4(AMT):c.387C>T (p.Asp129=)
|
|
|
NM_000481.4(AMT):c.393T>C (p.Ile131=)
|
rs2107933716
|
|
NM_000481.4(AMT):c.402T>C (p.Asn134=)
|
rs2107933698
|
|
NM_000481.4(AMT):c.414C>T (p.Gly138=)
|
|
|
NM_000481.4(AMT):c.423T>C (p.Tyr141=)
|
|
|
NM_000481.4(AMT):c.42C>T (p.Arg14=)
|
rs2107938326
|
|
NM_000481.4(AMT):c.432C>G (p.Ser144=)
|
rs2107933634
|
|
NM_000481.4(AMT):c.450G>A (p.Glu150=)
|
|
|
NM_000481.4(AMT):c.471+10C>G
|
|
|
NM_000481.4(AMT):c.471+10C>T
|
|
|
NM_000481.4(AMT):c.471+11T>C
|
|
|
NM_000481.4(AMT):c.471+14G>A
|
|
|
NM_000481.4(AMT):c.471+19C>A
|
|
|
NM_000481.4(AMT):c.471+20T>C
|
|
|
NM_000481.4(AMT):c.471+8C>T
|
rs367986797
|
|
NM_000481.4(AMT):c.471+9C>A
|
rs760770619
|
|
NM_000481.4(AMT):c.471+9C>G
|
|
|
NM_000481.4(AMT):c.472-10T>C
|
rs1211622746
|
|
NM_000481.4(AMT):c.472-11C>T
|
|
|
NM_000481.4(AMT):c.472-17G>C
|
|
|
NM_000481.4(AMT):c.472-19_472-18del
|
|
|
NM_000481.4(AMT):c.472-7C>T
|
|
|
NM_000481.4(AMT):c.472-8T>C
|
|
|
NM_000481.4(AMT):c.472-9G>A
|
|
|
NM_000481.4(AMT):c.474C>T (p.Asp158=)
|
rs765176362
|
|
NM_000481.4(AMT):c.477G>A (p.Lys159=)
|
rs2107932948
|
|
NM_000481.4(AMT):c.486G>A (p.Glu162=)
|
|
|
NM_000481.4(AMT):c.489T>G (p.Leu163=)
|
|
|
NM_000481.4(AMT):c.501C>A (p.Gly167=)
|
|
|
NM_000481.4(AMT):c.501C>G (p.Gly167=)
|
|
|
NM_000481.4(AMT):c.502A>C (p.Arg168=)
|
rs2107932896
|
|
NM_000481.4(AMT):c.514C>T (p.Leu172=)
|
|
|
NM_000481.4(AMT):c.522G>A (p.Val174=)
|
|
|
NM_000481.4(AMT):c.523T>C (p.Leu175=)
|
rs535318089
|
|
NM_000481.4(AMT):c.531T>C (p.Asn177=)
|
rs2049066669
|
|
NM_000481.4(AMT):c.534C>T (p.Ala178=)
|
rs928504970
|
|
NM_000481.4(AMT):c.538C>T (p.Leu180=)
|
rs1559528976
|
|
NM_000481.4(AMT):c.546G>T (p.Leu182=)
|
|
|
NM_000481.4(AMT):c.550+10C>G
|
|
|
NM_000481.4(AMT):c.550+10_550+15del
|
|
|
NM_000481.4(AMT):c.550+12G>A
|
|
|
NM_000481.4(AMT):c.550+16T>C
|
|
|
NM_000481.4(AMT):c.550+17G>A
|
|
|
NM_000481.4(AMT):c.550+18G>C
|
|
|
NM_000481.4(AMT):c.550+7G>A
|
rs755478633
|
|
NM_000481.4(AMT):c.550+9G>A
|
|
|
NM_000481.4(AMT):c.550+9G>T
|
|
|
NM_000481.4(AMT):c.551-11C>T
|
rs760119523
|
|
NM_000481.4(AMT):c.551-15G>A
|
|
|
NM_000481.4(AMT):c.551-4C>T
|
|
|
NM_000481.4(AMT):c.551-6G>A
|
rs937463808
|
|
NM_000481.4(AMT):c.551-9T>C
|
|
|
NM_000481.4(AMT):c.552C>A (p.Gly184=)
|
|
|
NM_000481.4(AMT):c.552C>T (p.Gly184=)
|
rs771745221
|
|
NM_000481.4(AMT):c.561A>C (p.Ala187=)
|
rs2107932359
|
|
NM_000481.4(AMT):c.579C>A (p.Ala193=)
|
rs749313171
|
|
NM_000481.4(AMT):c.57C>T (p.Pro19=)
|
rs770512923
|
|
NM_000481.4(AMT):c.582C>A (p.Gly194=)
|
rs377552553
|
|
NM_000481.4(AMT):c.585G>A (p.Val195=)
|
rs2049060090
|
|
NM_000481.4(AMT):c.591T>C (p.Asp197=)
|
rs2107932258
|
|
NM_000481.4(AMT):c.597G>A (p.Leu199=)
|
|
|
NM_000481.4(AMT):c.609C>A (p.Pro203=)
|
rs1314175857
|
|
NM_000481.4(AMT):c.621T>C (p.Ser207=)
|
rs2107932184
|
|
NM_000481.4(AMT):c.624T>C (p.Ala208=)
|
|
|
NM_000481.4(AMT):c.633G>A (p.Glu211=)
|
|
|
NM_000481.4(AMT):c.648T>C (p.Ser216=)
|
|
|
NM_000481.4(AMT):c.651C>T (p.Gly217=)
|
rs1256823141
|
|
NM_000481.4(AMT):c.654C>T (p.Cys218=)
|
|
|
NM_000481.4(AMT):c.663C>A (p.Thr221=)
|
rs2107932078
|
|
NM_000481.4(AMT):c.666C>A (p.Arg222=)
|
rs2107932060
|
|
NM_000481.4(AMT):c.666C>T (p.Arg222=)
|
rs2107932060
|
|
NM_000481.4(AMT):c.669T>C (p.Cys223=)
|
rs2107932045
|
|
NM_000481.4(AMT):c.66G>A (p.Leu22=)
|
rs2107938211
|
|
NM_000481.4(AMT):c.681A>G (p.Gly227=)
|
rs2107932020
|
|
NM_000481.4(AMT):c.687T>C (p.Asp229=)
|
rs1292063206
|
|
NM_000481.4(AMT):c.690T>C (p.Gly230=)
|
|
|
NM_000481.4(AMT):c.693G>A (p.Val231=)
|
|
|
NM_000481.4(AMT):c.696+10G>A
|
|
|
NM_000481.4(AMT):c.696+15G>A
|
|
|
NM_000481.4(AMT):c.696+16_696+18del
|
|
|
NM_000481.4(AMT):c.696+19T>C
|
|
|
NM_000481.4(AMT):c.696+20G>T
|
|
|
NM_000481.4(AMT):c.696+9A>G
|
|
|
NM_000481.4(AMT):c.696+9A>T
|
rs758602446
|
|
NM_000481.4(AMT):c.697-10T>C
|
rs2107931790
|
|
NM_000481.4(AMT):c.697-17T>C
|
|
|
NM_000481.4(AMT):c.697-18C>T
|
|
|
NM_000481.4(AMT):c.697-19C>T
|
|
|
NM_000481.4(AMT):c.697-20C>T
|
|
|
NM_000481.4(AMT):c.697-7C>T
|
rs2107931789
|
|
NM_000481.4(AMT):c.697-8T>G
|
|
|
NM_000481.4(AMT):c.699C>A (p.Ile233=)
|
rs369840558
|
|
NM_000481.4(AMT):c.6G>A (p.Gln2=)
|
|
|
NM_000481.4(AMT):c.705G>T (p.Val235=)
|
rs1324646911
|
|
NM_000481.4(AMT):c.708G>A (p.Pro236=)
|
rs760662679
|
|
NM_000481.4(AMT):c.708G>C (p.Pro236=)
|
|
|
NM_000481.4(AMT):c.714G>A (p.Ala238=)
|
rs772179698
|
|
NM_000481.4(AMT):c.714G>C (p.Ala238=)
|
|
|
NM_000481.4(AMT):c.714G>T (p.Ala238=)
|
rs772179698
|
|
NM_000481.4(AMT):c.732A>C (p.Ala244=)
|
|
|
NM_000481.4(AMT):c.732A>G (p.Ala244=)
|
rs2049053045
|
|
NM_000481.4(AMT):c.738T>A (p.Ala246=)
|
rs746145744
|
|
NM_000481.4(AMT):c.738T>C (p.Ala246=)
|
|
|
NM_000481.4(AMT):c.753A>G (p.Pro251=)
|
|
|
NM_000481.4(AMT):c.756G>A (p.Glu252=)
|
|
|
NM_000481.4(AMT):c.75A>G (p.Pro25=)
|
|
|
NM_000481.4(AMT):c.765G>A (p.Leu255=)
|
|
|
NM_000481.4(AMT):c.768A>T (p.Ala256=)
|
|
|
NM_000481.4(AMT):c.771G>A (p.Gly257=)
|
rs1575304815
|
|
NM_000481.4(AMT):c.771G>C (p.Gly257=)
|
|
|
NM_000481.4(AMT):c.774G>A (p.Leu258=)
|
rs756652661
|
|
NM_000481.4(AMT):c.786C>T (p.Asp262=)
|
|
|
NM_000481.4(AMT):c.796C>T (p.Leu266=)
|
|
|
NM_000481.4(AMT):c.810C>T (p.Leu270=)
|
rs2107931481
|
|
NM_000481.4(AMT):c.813C>T (p.Cys271=)
|
rs2107931474
|
|
NM_000481.4(AMT):c.81T>C (p.Ser27=)
|
rs2107938151
|
|
NM_000481.4(AMT):c.840C>T (p.His280=)
|
rs759675831
|
|
NM_000481.4(AMT):c.843T>A (p.Thr281=)
|
|
|
NM_000481.4(AMT):c.843T>G (p.Thr281=)
|
rs774244896
|
|
NM_000481.4(AMT):c.849T>A (p.Pro283=)
|
|
|
NM_000481.4(AMT):c.855G>A (p.Glu285=)
|
rs2049049754
|
|
NM_000481.4(AMT):c.867T>C (p.Ser289=)
|
rs1342940505
|
|
NM_000481.4(AMT):c.877+16A>C
|
|
|
NM_000481.4(AMT):c.877+17C>T
|
|
|
NM_000481.4(AMT):c.877+18T>C
|
|
|
NM_000481.4(AMT):c.877+7T>G
|
rs2107931324
|
|
NM_000481.4(AMT):c.877+9G>A
|
|
|
NM_000481.4(AMT):c.877+9G>C
|
|
|
NM_000481.4(AMT):c.878-11del
|
|
|
NM_000481.4(AMT):c.878-12G>A
|
|
|
NM_000481.4(AMT):c.878-15T>C
|
rs771225879
|
|
NM_000481.4(AMT):c.878-16A>T
|
rs904011401
|
|
NM_000481.4(AMT):c.878-19C>G
|
|
|
NM_000481.4(AMT):c.878-19C>T
|
|
|
NM_000481.4(AMT):c.878-6dup
|
rs2107929373
|
|
NM_000481.4(AMT):c.878-7T>C
|
|
|
NM_000481.4(AMT):c.878-7del
|
|
|
NM_000481.4(AMT):c.878-8T>C
|
rs2107929385
|
|
NM_000481.4(AMT):c.878-9A>G
|
|
|
NM_000481.4(AMT):c.879G>A (p.Gly293=)
|
rs972670254
|
|
NM_000481.4(AMT):c.87A>G (p.Ala29=)
|
|
|
NM_000481.4(AMT):c.90+10A>G
|
|
|
NM_000481.4(AMT):c.90+10A>T
|
rs1415657857
|
|
NM_000481.4(AMT):c.90+12G>A
|
|
|
NM_000481.4(AMT):c.90+13G>A
|
|
|
NM_000481.4(AMT):c.90+20T>C
|
|
|
NM_000481.4(AMT):c.90+9G>C
|
rs1447827681
|
|
NM_000481.4(AMT):c.906C>T (p.Phe302=)
|
|
|
NM_000481.4(AMT):c.91-10C>A
|
|
|
NM_000481.4(AMT):c.91-14C>T
|
|
|
NM_000481.4(AMT):c.91-20C>G
|
|
|
NM_000481.4(AMT):c.91-7C>T
|
rs758737016
|
|
NM_000481.4(AMT):c.930C>G (p.Pro310=)
|
|
|
NM_000481.4(AMT):c.930C>T (p.Pro310=)
|
|
|
NM_000481.4(AMT):c.948G>A (p.Val316=)
|
rs1575303144
|
|
NM_000481.4(AMT):c.957G>A (p.Arg319=)
|
|
|
NM_000481.4(AMT):c.99C>T (p.Leu33=)
|
rs2107937805
|
|
NM_000531.6(OTC):c.1002C>A (p.Ile334=)
|
|
|
NM_000531.6(OTC):c.1005+12A>G
|
|
|
NM_000531.6(OTC):c.1006-13G>A
|
|
|
NM_000531.6(OTC):c.1006-6C>T
|
rs2147349912
|
|
NM_000531.6(OTC):c.1008T>A (p.Ala336=)
|
|
|
NM_000531.6(OTC):c.1012A>C (p.Met338Leu)
|
|
|
NM_000531.6(OTC):c.1020C>T (p.Ser340=)
|
|
|
NM_000531.6(OTC):c.10A>G (p.Asn4Asp)
|
|
|
NM_000531.6(OTC):c.114G>A (p.Lys38=)
|
rs1057522000
|
|
NM_000531.6(OTC):c.132T>C (p.Thr44=)
|
|
|
NM_000531.6(OTC):c.144T>C (p.Phe48=)
|
|
|
NM_000531.6(OTC):c.147C>G (p.Thr49=)
|
rs144153859
|
|
NM_000531.6(OTC):c.149G>C (p.Gly50Ala)
|
rs201802621
|
|
NM_000531.6(OTC):c.162A>G (p.Lys54=)
|
rs2147323601
|
|
NM_000531.6(OTC):c.195T>C (p.Phe65=)
|
|
|
NM_000531.6(OTC):c.210A>G (p.Lys70=)
|
|
|
NM_000531.6(OTC):c.216+15C>A
|
|
|
NM_000531.6(OTC):c.216+15C>T
|
|
|
NM_000531.6(OTC):c.216+19T>C
|
|
|
NM_000531.6(OTC):c.216+8A>G
|
rs2147323670
|
|
NM_000531.6(OTC):c.217-15G>A
|
|
|
NM_000531.6(OTC):c.217-4A>G
|
rs2147324923
|
|
NM_000531.6(OTC):c.217-5TA[4]
|
rs759829103
|
|
NM_000531.6(OTC):c.229T>C (p.Leu77=)
|
|
|
NM_000531.6(OTC):c.244T>C (p.Leu82=)
|
rs1356711812
|
|
NM_000531.6(OTC):c.25T>C (p.Leu9=)
|
rs1440140895
|
|
NM_000531.6(OTC):c.298+14C>G
|
|
|
NM_000531.6(OTC):c.298+18T>A
|
|
|
NM_000531.6(OTC):c.298+8C>T
|
|
|
NM_000531.6(OTC):c.299-11T>C
|
|
|
NM_000531.6(OTC):c.299-16T>C
|
|
|
NM_000531.6(OTC):c.299-18del
|
|
|
NM_000531.6(OTC):c.299-5T>C
|
rs377576551
|
|
NM_000531.6(OTC):c.299-7A>T
|
|
|
NM_000531.6(OTC):c.303T>C (p.Phe101=)
|
|
|
NM_000531.6(OTC):c.306A>T (p.Ala102=)
|
|
|
NM_000531.6(OTC):c.30C>T (p.Asn10=)
|
|
|
NM_000531.6(OTC):c.33T>C (p.Asn11=)
|
rs2147315497
|
|
NM_000531.6(OTC):c.348T>A (p.Ile116=)
|
|
|
NM_000531.6(OTC):c.352T>C (p.Leu118=)
|
rs2068375753
|
|
NM_000531.6(OTC):c.357T>C (p.Gly119=)
|
rs2068375897
|
|
NM_000531.6(OTC):c.381G>A (p.Thr127=)
|
|
|
NM_000531.6(OTC):c.386+10T>A
|
rs2068376461
|
|
NM_000531.6(OTC):c.386+9del
|
|
|
NM_000531.6(OTC):c.387-11G>A
|
rs2147341204
|
|
NM_000531.6(OTC):c.387-18T>C
|
|
|
NM_000531.6(OTC):c.387-19T>G
|
|
|
NM_000531.6(OTC):c.387-5C>A
|
rs2147341209
|
|
NM_000531.6(OTC):c.396T>C (p.Ser132=)
|
rs1602029553
|
|
NM_000531.6(OTC):c.415T>C (p.Leu139=)
|
|
|
NM_000531.6(OTC):c.435A>G (p.Gln145=)
|
|
|
NM_000531.6(OTC):c.441T>C (p.Asp147=)
|
rs2147341316
|
|
NM_000531.6(OTC):c.448A>G (p.Thr150Ala)
|
|
|
NM_000531.6(OTC):c.448A>T (p.Thr150Ser)
|
|
|
NM_000531.6(OTC):c.449C>A (p.Thr150Asn)
|
rs766735977
|
|
NM_000531.6(OTC):c.450C>T (p.Thr150=)
|
|
|
NM_000531.6(OTC):c.459A>G (p.Lys153=)
|
rs2147341336
|
|
NM_000531.6(OTC):c.465A>G (p.Ala155=)
|
rs2147341344
|
|
NM_000531.6(OTC):c.474A>G (p.Pro158=)
|
rs2147341354
|
|
NM_000531.6(OTC):c.480C>T (p.Ile160=)
|
rs2147341370
|
|
NM_000531.6(OTC):c.483T>C (p.Asn161=)
|
rs72558497
|
|
NM_000531.6(OTC):c.487C>T (p.Leu163=)
|
rs2147341395
|
|
NM_000531.6(OTC):c.489G>A (p.Leu163=)
|
rs756269281
|
|
NM_000531.6(OTC):c.4C>T (p.Leu2=)
|
|
|
NM_000531.6(OTC):c.501C>T (p.Tyr167=)
|
|
|
NM_000531.6(OTC):c.510C>T (p.Ile170=)
|
|
|
NM_000531.6(OTC):c.516C>A (p.Ile172=)
|
|
|
NM_000531.6(OTC):c.528C>T (p.Tyr176=)
|
|
|
NM_000531.6(OTC):c.531C>G (p.Leu177=)
|
|
|
NM_000531.6(OTC):c.531C>T (p.Leu177=)
|
|
|
NM_000531.6(OTC):c.537C>G (p.Leu179=)
|
|
|
NM_000531.6(OTC):c.540+16del
|
|
|
NM_000531.6(OTC):c.540+17G>A
|
|
|
NM_000531.6(OTC):c.540+17G>T
|
|
|
NM_000531.6(OTC):c.541-14C>T
|
|
|
NM_000531.6(OTC):c.546C>T (p.His182=)
|
|
|
NM_000531.6(OTC):c.54C>T (p.His18=)
|
rs2147315516
|
|
NM_000531.6(OTC):c.558G>A (p.Leu186=)
|
rs2147342624
|
|
NM_000531.6(OTC):c.570C>T (p.Thr190=)
|
|
|
NM_000531.6(OTC):c.585G>A (p.Gly195=)
|
rs1800327
|
|
NM_000531.6(OTC):c.597T>C (p.Asn199=)
|
|
|
NM_000531.6(OTC):c.601C>T (p.Leu201=)
|
rs2147342708
|
|
NM_000531.6(OTC):c.61A>G (p.Met21Val)
|
rs755909408
|
|
NM_000531.6(OTC):c.633C>T (p.Phe211=)
|
rs2147342757
|
|
NM_000531.6(OTC):c.634G>A (p.Gly212Arg)
|
|
|
NM_000531.6(OTC):c.636A>C (p.Gly212=)
|
|
|
NM_000531.6(OTC):c.642C>T (p.His214=)
|
rs1602031079
|
|
NM_000531.6(OTC):c.663+13T>C
|
|
|
NM_000531.6(OTC):c.663+7A>G
|
rs767994989
|
|
NM_000531.6(OTC):c.663+7_663+10delinsTGCA
|
rs2147342809
|
|
NM_000531.6(OTC):c.663+9A>T
|
|
|
NM_000531.6(OTC):c.664-13C>A
|
|
|
NM_000531.6(OTC):c.664-8T>C
|
|
|
NM_000531.6(OTC):c.664-9C>T
|
|
|
NM_000531.6(OTC):c.664G>A (p.Gly222Ser)
|
|
|
NM_000531.6(OTC):c.672G>A (p.Glu224=)
|
|
|
NM_000531.6(OTC):c.681T>C (p.Ala227=)
|
|
|
NM_000531.6(OTC):c.694T>C (p.Leu232=)
|
rs2147344980
|
|
NM_000531.6(OTC):c.699A>C (p.Ala233=)
|
|
|
NM_000531.6(OTC):c.6G>A (p.Leu2=)
|
|
|
NM_000531.6(OTC):c.6G>C (p.Leu2=)
|
rs1602008611
|
|
NM_000531.6(OTC):c.717+13C>T
|
|
|
NM_000531.6(OTC):c.717+15T>C
|
|
|
NM_000531.6(OTC):c.717+20A>C
|
|
|
NM_000531.6(OTC):c.717+20A>G
|
|
|
NM_000531.6(OTC):c.718-11A>C
|
|
|
NM_000531.6(OTC):c.718-17G>A
|
|
|
NM_000531.6(OTC):c.718-18C>A
|
|
|
NM_000531.6(OTC):c.726C>T (p.Thr242=)
|
rs2147345076
|
|
NM_000531.6(OTC):c.729G>A (p.Lys243=)
|
rs2147345080
|
|
NM_000531.6(OTC):c.732G>C (p.Leu244=)
|
rs2147345085
|
|
NM_000531.6(OTC):c.736C>T (p.Leu246=)
|
|
|
NM_000531.6(OTC):c.762G>A (p.Ala254=)
|
rs1388386866
|
|
NM_000531.6(OTC):c.77+11G>A
|
|
|
NM_000531.6(OTC):c.77+20T>C
|
|
|
NM_000531.6(OTC):c.77+8A>G
|
rs2147315564
|
|
NM_000531.6(OTC):c.78-12C>A
|
|
|
NM_000531.6(OTC):c.78-13T>A
|
|
|
NM_000531.6(OTC):c.78-5T>C
|
|
|
NM_000531.6(OTC):c.789C>T (p.Asp263=)
|
rs2147345156
|
|
NM_000531.6(OTC):c.810A>G (p.Gln270=)
|
|
|
NM_000531.6(OTC):c.813A>G (p.Glu271=)
|
|
|
NM_000531.6(OTC):c.819G>A (p.Glu273=)
|
rs1602033324
|
|
NM_000531.6(OTC):c.81T>C (p.Cys27=)
|
rs993705802
|
|
NM_000531.6(OTC):c.822G>A (p.Lys274=)
|
rs2147345221
|
|
NM_000531.6(OTC):c.828_829delinsAA (p.Lys276_Arg277=)
|
rs2147345235
|
|
NM_000531.6(OTC):c.829C>A (p.Arg277=)
|
|
|
NM_000531.6(OTC):c.831G>T (p.Arg277=)
|
rs2147345248
|
|
NM_000531.6(OTC):c.840T>G (p.Ala280=)
|
rs2147345258
|
|
NM_000531.6(OTC):c.846A>G (p.Gln282=)
|
rs2068530338
|
|
NM_000531.6(OTC):c.852C>T (p.Tyr284=)
|
rs2147345272
|
|
NM_000531.6(OTC):c.867+1126A>C
|
|
|
NM_000531.6(OTC):c.867+18T>C
|
|
|
NM_000531.6(OTC):c.867+19C>T
|
|
|
NM_000531.6(OTC):c.867+9T>C
|
|
|
NM_000531.6(OTC):c.868-10A>G
|
|
|
NM_000531.6(OTC):c.868-10A>T
|
rs2147346468
|
|
NM_000531.6(OTC):c.868-13C>A
|
|
|
NM_000531.6(OTC):c.868-13C>T
|
|
|
NM_000531.6(OTC):c.868-8C>T
|
|
|
NM_000531.6(OTC):c.870T>C (p.Thr290=)
|
rs794727959
|
|
NM_000531.6(OTC):c.885C>A (p.Ala295=)
|
rs974497183
|
|
NM_000531.6(OTC):c.897A>C (p.Thr299=)
|
rs2147346527
|
|
NM_000531.6(OTC):c.897A>G (p.Thr299=)
|
|
|
NM_000531.6(OTC):c.915C>A (p.Pro305=)
|
|
|
NM_000531.6(OTC):c.915C>G (p.Pro305=)
|
|
|
NM_000531.6(OTC):c.933G>A (p.Val311=)
|
rs2147346566
|
|
NM_000531.6(OTC):c.93A>G (p.Leu31=)
|
|
|
NM_000531.6(OTC):c.945C>G (p.Val315=)
|
|
|
NM_000531.6(OTC):c.951T>C (p.Tyr317=)
|
|
|
NM_000531.6(OTC):c.972C>T (p.Phe324=)
|
|
|
NM_000531.6(OTC):c.975A>C (p.Pro325=)
|
|
|
NM_000531.6(OTC):c.975A>G (p.Pro325=)
|
|
|
NM_000531.6(OTC):c.987C>T (p.Asn329=)
|
rs2068546163
|
|
NM_000531.6(OTC):c.990A>G (p.Arg330=)
|
|
|
NM_000531.6(OTC):c.999A>C (p.Thr333=)
|
|
|
NM_000532.5(PCCB):c.1002C>A (p.Pro334=)
|
rs370304541
|
|
NM_000532.5(PCCB):c.1017C>T (p.Asn339=)
|
rs764080368
|
|
NM_000532.5(PCCB):c.1020C>T (p.Ile340=)
|
rs2108226621
|
|
NM_000532.5(PCCB):c.102T>C (p.Ser34=)
|
|
|
NM_000532.5(PCCB):c.1032T>C (p.Phe344=)
|
|
|
NM_000532.5(PCCB):c.1035A>G (p.Ala345=)
|
|
|
NM_000532.5(PCCB):c.1044T>C (p.Asn348=)
|
|
|
NM_000532.5(PCCB):c.1047G>A (p.Gly349=)
|
rs2108226680
|
|
NM_000532.5(PCCB):c.1077T>C (p.Pro359=)
|
|
|
NM_000532.5(PCCB):c.1080G>A (p.Lys360=)
|
|
|
NM_000532.5(PCCB):c.1086C>T (p.Ala362=)
|
rs748740009
|
|
NM_000532.5(PCCB):c.1090+11G>A
|
|
|
NM_000532.5(PCCB):c.1090+13T>C
|
|
|
NM_000532.5(PCCB):c.1090+13_1090+16del
|
|
|
NM_000532.5(PCCB):c.1090+15_1090+16dup
|
|
|
NM_000532.5(PCCB):c.1090+17A>C
|
|
|
NM_000532.5(PCCB):c.1090+17A>T
|
|
|
NM_000532.5(PCCB):c.1090+17dup
|
|
|
NM_000532.5(PCCB):c.1090+19A>G
|
|
|
NM_000532.5(PCCB):c.1090+7T>C
|
rs2108226731
|
|
NM_000532.5(PCCB):c.1090+8G>A
|
rs2108226738
|
|
NM_000532.5(PCCB):c.1091-12C>G
|
|
|
NM_000532.5(PCCB):c.1091-12C>T
|
|
|
NM_000532.5(PCCB):c.1091-14C>T
|
|
|
NM_000532.5(PCCB):c.1091-15TC[3]
|
|
|
NM_000532.5(PCCB):c.1091-16_1091-14del
|
|
|
NM_000532.5(PCCB):c.1091-19A>G
|
|
|
NM_000532.5(PCCB):c.1091-4C>T
|
rs759283485
|
|
NM_000532.5(PCCB):c.1091-8C>T
|
|
|
NM_000532.5(PCCB):c.1091-9T>C
|
|
|
NM_000532.5(PCCB):c.1119A>G (p.Lys373=)
|
rs2108237811
|
|
NM_000532.5(PCCB):c.1134C>A (p.Val378=)
|
|
|
NM_000532.5(PCCB):c.1146T>C (p.Asp382=)
|
rs2108237867
|
|
NM_000532.5(PCCB):c.1149A>T (p.Ala383=)
|
rs1303454039
|
|
NM_000532.5(PCCB):c.1155T>C (p.Asn385=)
|
|
|
NM_000532.5(PCCB):c.1164C>T (p.Leu388=)
|
|
|
NM_000532.5(PCCB):c.1167C>A (p.Ile389=)
|
|
|
NM_000532.5(PCCB):c.1182C>T (p.Val394=)
|
|
|
NM_000532.5(PCCB):c.1194A>C (p.Leu398=)
|
|
|
NM_000532.5(PCCB):c.1194A>G (p.Leu398=)
|
rs767647079
|
|
NM_000532.5(PCCB):c.1198+12A>G
|
|
|
NM_000532.5(PCCB):c.1198+13C>T
|
|
|
NM_000532.5(PCCB):c.1198+14A>G
|
|
|
NM_000532.5(PCCB):c.1198+17G>A
|
|
|
NM_000532.5(PCCB):c.1198+18T>G
|
|
|
NM_000532.5(PCCB):c.1198+18dup
|
|
|
NM_000532.5(PCCB):c.1198+19G>C
|
|
|
NM_000532.5(PCCB):c.1198+19G>T
|
|
|
NM_000532.5(PCCB):c.1199-15C>G
|
|
|
NM_000532.5(PCCB):c.1199-15C>T
|
|
|
NM_000532.5(PCCB):c.1199-17C>T
|
|
|
NM_000532.5(PCCB):c.1199-18dup
|
rs2108238321
|
|
NM_000532.5(PCCB):c.1199-20T>G
|
|
|
NM_000532.5(PCCB):c.1199-4C>G
|
|
|
NM_000532.5(PCCB):c.1199-5T>C
|
|
|
NM_000532.5(PCCB):c.1199-7T>C
|
|
|
NM_000532.5(PCCB):c.1199-9C>T
|
|
|
NM_000532.5(PCCB):c.1228C>A (p.Arg410=)
|
rs121964959
|
|
NM_000532.5(PCCB):c.1242G>A (p.Lys414=)
|
rs780048274
|
|
NM_000532.5(PCCB):c.1248C>G (p.Leu416=)
|
|
|
NM_000532.5(PCCB):c.1248C>T (p.Leu416=)
|
rs747022334
|
|
NM_000532.5(PCCB):c.1254A>G (p.Ala418=)
|
|
|
NM_000532.5(PCCB):c.1269T>A (p.Thr423=)
|
rs2108238461
|
|
NM_000532.5(PCCB):c.1281C>G (p.Val427=)
|
|
|
NM_000532.5(PCCB):c.1287C>A (p.Val429=)
|
rs2108238489
|
|
NM_000532.5(PCCB):c.1287C>G (p.Val429=)
|
rs2108238489
|
|
NM_000532.5(PCCB):c.1293C>T (p.Thr431=)
|
rs1474177341
|
|
NM_000532.5(PCCB):c.1299+12A>G
|
rs751610521
|
|
NM_000532.5(PCCB):c.1299+19A>C
|
|
|
NM_000532.5(PCCB):c.1299+7A>T
|
|
|
NM_000532.5(PCCB):c.1299+9C>T
|
|
|
NM_000532.5(PCCB):c.129C>T (p.Arg43=)
|
|
|
NM_000532.5(PCCB):c.1300-12G>T
|
|
|
NM_000532.5(PCCB):c.1300-13G>A
|
rs1320397998
|
|
NM_000532.5(PCCB):c.1300-18C>T
|
|
|
NM_000532.5(PCCB):c.1300-19G>A
|
|
|
NM_000532.5(PCCB):c.1329C>T (p.Ser443=)
|
|
|
NM_000532.5(PCCB):c.132G>C (p.Arg44=)
|
|
|
NM_000532.5(PCCB):c.132G>T (p.Arg44=)
|
|
|
NM_000532.5(PCCB):c.1350T>C (p.Asp450=)
|
rs1935374974
|
|
NM_000532.5(PCCB):c.1356C>T (p.Asn452=)
|
rs1455298516
|
|
NM_000532.5(PCCB):c.135C>A (p.Thr45=)
|
rs1576397628
|
|
NM_000532.5(PCCB):c.135C>G (p.Thr45=)
|
|
|
NM_000532.5(PCCB):c.1386C>A (p.Val462=)
|
|
|
NM_000532.5(PCCB):c.1386C>T (p.Val462=)
|
|
|
NM_000532.5(PCCB):c.138G>A (p.Ala46=)
|
rs145075817
|
|
NM_000532.5(PCCB):c.1395A>G (p.Ala465=)
|
|
|
NM_000532.5(PCCB):c.1398+11C>G
|
|
|
NM_000532.5(PCCB):c.1398+15C>T
|
|
|
NM_000532.5(PCCB):c.1398+16T>G
|
|
|
NM_000532.5(PCCB):c.1398+18T>C
|
|
|
NM_000532.5(PCCB):c.1398+8C>T
|
|
|
NM_000532.5(PCCB):c.1398+9C>T
|
rs2108239140
|
|
NM_000532.5(PCCB):c.1399-12_1399-10del
|
|
|
NM_000532.5(PCCB):c.1399-5C>G
|
|
|
NM_000532.5(PCCB):c.1399-8A>G
|
|
|
NM_000532.5(PCCB):c.13T>C (p.Leu5=)
|
rs1559991921
|
|
NM_000532.5(PCCB):c.1404T>C (p.Ala468=)
|
|
|
NM_000532.5(PCCB):c.1410G>A (p.Glu470=)
|
|
|
NM_000532.5(PCCB):c.141G>A (p.Leu47=)
|
rs1378807952
|
|
NM_000532.5(PCCB):c.1422A>G (p.Lys474=)
|
|
|
NM_000532.5(PCCB):c.1425G>T (p.Gly475=)
|
|
|
NM_000532.5(PCCB):c.1446T>C (p.Ala482=)
|
rs1233276940
|
|
NM_000532.5(PCCB):c.144G>A (p.Leu48=)
|
|
|
NM_000532.5(PCCB):c.144G>C (p.Leu48=)
|
rs1462411928
|
|
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)
|
rs781556055
|
|
NM_000532.5(PCCB):c.1461C>T (p.Ile487=)
|
rs778676531
|
|
NM_000532.5(PCCB):c.1470T>C (p.Phe490=)
|
|
|
NM_000532.5(PCCB):c.1473C>G (p.Ala491=)
|
|
|
NM_000532.5(PCCB):c.1473C>T (p.Ala491=)
|
rs1428860331
|
|
NM_000532.5(PCCB):c.1482C>T (p.Phe494=)
|
rs1179000221
|
|
NM_000532.5(PCCB):c.1491A>C (p.Ala497=)
|
|
|
NM_000532.5(PCCB):c.1498+10T>C
|
rs777201996
|
|
NM_000532.5(PCCB):c.1498+12T>C
|
|
|
NM_000532.5(PCCB):c.1498+12_1498+13del
|
rs770922237
|
|
NM_000532.5(PCCB):c.1498+14G>A
|
|
|
NM_000532.5(PCCB):c.1498+15T>C
|
|
|
NM_000532.5(PCCB):c.1498+8A>G
|
rs2108240447
|
|
NM_000532.5(PCCB):c.1498+9C>T
|
|
|
NM_000532.5(PCCB):c.1499-10G>T
|
|
|
NM_000532.5(PCCB):c.1499-19C>T
|
|
|
NM_000532.5(PCCB):c.1499-4C>T
|
|
|
NM_000532.5(PCCB):c.1499-9C>T
|
|
|
NM_000532.5(PCCB):c.150G>A (p.Gly50=)
|
|
|
NM_000532.5(PCCB):c.150G>C (p.Gly50=)
|
|
|
NM_000532.5(PCCB):c.150G>T (p.Gly50=)
|
|
|
NM_000532.5(PCCB):c.1515C>T (p.Ile505=)
|
rs2108241650
|
|
NM_000532.5(PCCB):c.1518C>T (p.Ile506=)
|
|
|
NM_000532.5(PCCB):c.1524T>G (p.Pro508=)
|
|
|
NM_000532.5(PCCB):c.1539C>G (p.Ala513=)
|
rs2108241686
|
|
NM_000532.5(PCCB):c.1539C>T (p.Ala513=)
|
rs2108241686
|
|
NM_000532.5(PCCB):c.1542A>C (p.Arg514=)
|
rs1337219671
|
|
NM_000532.5(PCCB):c.1564T>C (p.Leu522=)
|
rs2108241717
|
|
NM_000532.5(PCCB):c.1566G>A (p.Leu522=)
|
|
|
NM_000532.5(PCCB):c.1584A>G (p.Gln528=)
|
|
|
NM_000532.5(PCCB):c.1587T>C (p.Arg529=)
|
|
|
NM_000532.5(PCCB):c.159C>T (p.Arg53=)
|
rs776900764
|
|
NM_000532.5(PCCB):c.1605A>G (p.Ala535=)
|
|
|
NM_000532.5(PCCB):c.1611T>A (p.Ile537=)
|
rs2108241808
|
|
NM_000532.5(PCCB):c.1615T>C (p.Leu539=)
|
|
|
NM_000532.5(PCCB):c.165T>C (p.Ile55=)
|
|
|
NM_000532.5(PCCB):c.171G>T (p.Ala57=)
|
rs1168077273
|
|
NM_000532.5(PCCB):c.174G>A (p.Gln58=)
|
rs1576397701
|
|
NM_000532.5(PCCB):c.183+12G>A
|
|
|
NM_000532.5(PCCB):c.183+13G>A
|
|
|
NM_000532.5(PCCB):c.183+15G>A
|
|
|
NM_000532.5(PCCB):c.183+15G>C
|
|
|
NM_000532.5(PCCB):c.183+15G>T
|
|
|
NM_000532.5(PCCB):c.183+16C>T
|
|
|
NM_000532.5(PCCB):c.183+17C>A
|
|
|
NM_000532.5(PCCB):c.183+18T>C
|
|
|
NM_000532.5(PCCB):c.183+19A>C
|
|
|
NM_000532.5(PCCB):c.183+19A>G
|
rs2108128256
|
|
NM_000532.5(PCCB):c.183+19_183+22del
|
rs2108128253
|
|
NM_000532.5(PCCB):c.183+7C>T
|
rs1039491317
|
|
NM_000532.5(PCCB):c.183+8C>T
|
rs780042796
|
|
NM_000532.5(PCCB):c.183+9T>C
|
rs2108128200
|
|
NM_000532.5(PCCB):c.183+9_183+28del
|
|
|
NM_000532.5(PCCB):c.184-12G>A
|
|
|
NM_000532.5(PCCB):c.184-16C>T
|
|
|
NM_000532.5(PCCB):c.184-5T>C
|
|
|
NM_000532.5(PCCB):c.184-7A>G
|
rs1941659337
|
|
NM_000532.5(PCCB):c.184-7A>T
|
rs1941659337
|
|
NM_000532.5(PCCB):c.184-8C>T
|
|
|
NM_000532.5(PCCB):c.184-8del
|
|
|
NM_000532.5(PCCB):c.184-9C>T
|
rs2108137236
|
|
NM_000532.5(PCCB):c.189G>A (p.Lys63=)
|
|
|
NM_000532.5(PCCB):c.18G>A (p.Arg6=)
|
|
|
NM_000532.5(PCCB):c.18G>C (p.Arg6=)
|
rs2108127702
|
|
NM_000532.5(PCCB):c.18G>T (p.Arg6=)
|
rs2108127702
|
|
NM_000532.5(PCCB):c.192A>G (p.Leu64=)
|
|
|
NM_000532.5(PCCB):c.210C>T (p.Ile70=)
|
rs1195573163
|
|
NM_000532.5(PCCB):c.216C>A (p.Leu72=)
|
|
|
NM_000532.5(PCCB):c.216C>T (p.Leu72=)
|
rs2108137325
|
|
NM_000532.5(PCCB):c.217T>C (p.Leu73=)
|
rs1941660630
|
|
NM_000532.5(PCCB):c.21G>A (p.Val7=)
|
rs1404763021
|
|
NM_000532.5(PCCB):c.21G>C (p.Val7=)
|
rs1404763021
|
|
NM_000532.5(PCCB):c.231C>G (p.Gly77=)
|
|
|
NM_000532.5(PCCB):c.231C>T (p.Gly77=)
|
rs2108137338
|
|
NM_000532.5(PCCB):c.237T>C (p.Phe79=)
|
|
|
NM_000532.5(PCCB):c.249C>T (p.Asp83=)
|
rs1941661486
|
|
NM_000532.5(PCCB):c.24G>A (p.Ala8=)
|
|
|
NM_000532.5(PCCB):c.261A>G (p.Glu87=)
|
|
|
NM_000532.5(PCCB):c.273A>C (p.Ala91=)
|
|
|
NM_000532.5(PCCB):c.273A>G (p.Ala91=)
|
|
|
NM_000532.5(PCCB):c.27G>C (p.Ala9=)
|
rs1402404407
|
|
NM_000532.5(PCCB):c.27G>T (p.Ala9=)
|
|
|
NM_000532.5(PCCB):c.303+13A>C
|
|
|
NM_000532.5(PCCB):c.303+15G>A
|
|
|
NM_000532.5(PCCB):c.303+18G>A
|
|
|
NM_000532.5(PCCB):c.303+19_303+21del
|
rs1338554743
|
|
NM_000532.5(PCCB):c.303+7G>A
|
rs747794871
|
|
NM_000532.5(PCCB):c.304-10T>C
|
|
|
NM_000532.5(PCCB):c.304-13A>G
|
|
|
NM_000532.5(PCCB):c.304-14C>T
|
|
|
NM_000532.5(PCCB):c.304-20T>C
|
|
|
NM_000532.5(PCCB):c.304-20T>G
|
|
|
NM_000532.5(PCCB):c.304-4G>T
|
rs1178341565
|
|
NM_000532.5(PCCB):c.304-5G>C
|
rs2108138190
|
|
NM_000532.5(PCCB):c.304-6T>C
|
rs1941675458
|
|
NM_000532.5(PCCB):c.304-9T>C
|
rs772699339
|
|
NM_000532.5(PCCB):c.306T>C (p.Phe102=)
|
rs770601332
|
|
NM_000532.5(PCCB):c.30C>A (p.Val10=)
|
rs754303318
|
|
NM_000532.5(PCCB):c.30C>G (p.Val10=)
|
rs754303318
|
|
NM_000532.5(PCCB):c.315C>T (p.Asp105=)
|
|
|
NM_000532.5(PCCB):c.321G>A (p.Val107=)
|
|
|
NM_000532.5(PCCB):c.324C>G (p.Val108=)
|
|
|
NM_000532.5(PCCB):c.327T>C (p.Thr109=)
|
rs2108138226
|
|
NM_000532.5(PCCB):c.336C>T (p.Gly112=)
|
|
|
NM_000532.5(PCCB):c.342C>A (p.Ile114=)
|
|
|
NM_000532.5(PCCB):c.360T>C (p.Tyr120=)
|
rs1198278808
|
|
NM_000532.5(PCCB):c.372+12C>T
|
|
|
NM_000532.5(PCCB):c.372+14C>G
|
|
|
NM_000532.5(PCCB):c.372+15C>A
|
|
|
NM_000532.5(PCCB):c.372+18T>C
|
|
|
NM_000532.5(PCCB):c.373-17T>A
|
|
|
NM_000532.5(PCCB):c.373-5T>C
|
|
|
NM_000532.5(PCCB):c.373-8C>G
|
|
|
NM_000532.5(PCCB):c.381A>G (p.Thr127=)
|
|
|
NM_000532.5(PCCB):c.384T>G (p.Val128=)
|
rs1169839469
|
|
NM_000532.5(PCCB):c.387T>C (p.Phe129=)
|
rs1576405957
|
|
NM_000532.5(PCCB):c.397C>T (p.Leu133=)
|
rs1941791843
|
|
NM_000532.5(PCCB):c.39G>A (p.Arg13=)
|
|
|
NM_000532.5(PCCB):c.414C>G (p.Ala138=)
|
rs781142631
|
|
NM_000532.5(PCCB):c.417A>G (p.Gln139=)
|
|
|
NM_000532.5(PCCB):c.423C>A (p.Ile141=)
|
rs2108144487
|
|
NM_000532.5(PCCB):c.429+11A>C
|
|
|
NM_000532.5(PCCB):c.429+15C>T
|
|
|
NM_000532.5(PCCB):c.429+17C>A
|
|
|
NM_000532.5(PCCB):c.429+17C>T
|
|
|
NM_000532.5(PCCB):c.429+20A>G
|
rs1282306131
|
|
NM_000532.5(PCCB):c.429+20A>T
|
|
|
NM_000532.5(PCCB):c.429+8T>C
|
rs2108144514
|
|
NM_000532.5(PCCB):c.429+9T>G
|
|
|
NM_000532.5(PCCB):c.42C>G (p.Leu14=)
|
|
|
NM_000532.5(PCCB):c.42C>T (p.Leu14=)
|
rs2108127783
|
|
NM_000532.5(PCCB):c.430-12C>T
|
|
|
NM_000532.5(PCCB):c.430-14C>A
|
|
|
NM_000532.5(PCCB):c.430-14C>G
|
rs1320752306
|
|
NM_000532.5(PCCB):c.430-17T>C
|
|
|
NM_000532.5(PCCB):c.430-17T>G
|
rs2108146563
|
|
NM_000532.5(PCCB):c.430-18A>T
|
|
|
NM_000532.5(PCCB):c.430-19G>A
|
|
|
NM_000532.5(PCCB):c.430-9C>T
|
|
|
NM_000532.5(PCCB):c.438C>T (p.Asp146=)
|
|
|
NM_000532.5(PCCB):c.444C>T (p.Ala148=)
|
|
|
NM_000532.5(PCCB):c.450G>C (p.Thr150=)
|
|
|
NM_000532.5(PCCB):c.450G>T (p.Thr150=)
|
|
|
NM_000532.5(PCCB):c.453G>A (p.Val151=)
|
|
|
NM_000532.5(PCCB):c.459T>A (p.Ala153=)
|
rs2108146658
|
|
NM_000532.5(PCCB):c.462A>G (p.Pro154=)
|
|
|
NM_000532.5(PCCB):c.471G>T (p.Gly157=)
|
rs2108146680
|
|
NM_000532.5(PCCB):c.474G>A (p.Leu158=)
|
rs2108146690
|
|
NM_000532.5(PCCB):c.486G>A (p.Gly162=)
|
|
|
NM_000532.5(PCCB):c.486G>T (p.Gly162=)
|
|
|
NM_000532.5(PCCB):c.495G>T (p.Arg165=)
|
|
|
NM_000532.5(PCCB):c.49C>T (p.Leu17=)
|
rs200185747
|
|
NM_000532.5(PCCB):c.519G>A (p.Leu173=)
|
rs2108146783
|
|
NM_000532.5(PCCB):c.522T>G (p.Ala174=)
|
|
|
NM_000532.5(PCCB):c.525C>A (p.Gly175=)
|
|
|
NM_000532.5(PCCB):c.528T>C (p.Tyr176=)
|
rs2108146812
|
|
NM_000532.5(PCCB):c.540T>C (p.Phe180=)
|
|
|
NM_000532.5(PCCB):c.541C>T (p.Leu181=)
|
rs991870747
|
|
NM_000532.5(PCCB):c.543+10C>G
|
rs2108146841
|
|
NM_000532.5(PCCB):c.543+11T>C
|
|
|
NM_000532.5(PCCB):c.543+17T>G
|
|
|
NM_000532.5(PCCB):c.543+19G>C
|
|
|
NM_000532.5(PCCB):c.543+8A>G
|
|
|
NM_000532.5(PCCB):c.544-10G>C
|
|
|
NM_000532.5(PCCB):c.555G>C (p.Thr185=)
|
rs543691110
|
|
NM_000532.5(PCCB):c.564A>G (p.Gly188=)
|
|
|
NM_000532.5(PCCB):c.579T>A (p.Ile193=)
|
rs2108181900
|
|
NM_000532.5(PCCB):c.57C>T (p.Ser19=)
|
rs1196995378
|
|
NM_000532.5(PCCB):c.594C>G (p.Gly198=)
|
rs1933215700
|
|
NM_000532.5(PCCB):c.597A>C (p.Pro199=)
|
rs773799305
|
|
NM_000532.5(PCCB):c.597A>T (p.Pro199=)
|
|
|
NM_000532.5(PCCB):c.612C>T (p.Ala204=)
|
rs201054265
|
|
NM_000532.5(PCCB):c.642G>T (p.Thr214=)
|
rs148056730
|
|
NM_000532.5(PCCB):c.654+13G>A
|
|
|
NM_000532.5(PCCB):c.654+14del
|
rs748846212
|
|
NM_000532.5(PCCB):c.654+16C>A
|
|
|
NM_000532.5(PCCB):c.654+17T>C
|
|
|
NM_000532.5(PCCB):c.654+18G>A
|
|
|
NM_000532.5(PCCB):c.654+8A>T
|
rs2108182157
|
|
NM_000532.5(PCCB):c.655-12C>G
|
|
|
NM_000532.5(PCCB):c.655-18G>A
|
|
|
NM_000532.5(PCCB):c.655-20C>G
|
|
|
NM_000532.5(PCCB):c.655-7del
|
|
|
NM_000532.5(PCCB):c.655-8T>C
|
|
|
NM_000532.5(PCCB):c.655-9T>C
|
|
|
NM_000532.5(PCCB):c.663C>T (p.Ser221=)
|
rs771455499
|
|
NM_000532.5(PCCB):c.667C>T (p.Leu223=)
|
rs1290994455
|
|
NM_000532.5(PCCB):c.672C>T (p.Phe224=)
|
|
|
NM_000532.5(PCCB):c.675C>T (p.Ile225=)
|
rs2108197231
|
|
NM_000532.5(PCCB):c.693G>T (p.Val231=)
|
|
|
NM_000532.5(PCCB):c.69C>G (p.Ala23=)
|
|
|
NM_000532.5(PCCB):c.69C>T (p.Ala23=)
|
|
|
NM_000532.5(PCCB):c.6G>A (p.Ala2=)
|
rs769835356
|
|
NM_000532.5(PCCB):c.6G>C (p.Ala2=)
|
|
|
NM_000532.5(PCCB):c.702C>G (p.Val234=)
|
|
|
NM_000532.5(PCCB):c.711G>A (p.Glu237=)
|
|
|
NM_000532.5(PCCB):c.72G>A (p.Ala24=)
|
rs1389353704
|
|
NM_000532.5(PCCB):c.72G>T (p.Ala24=)
|
rs1389353704
|
|
NM_000532.5(PCCB):c.750C>T (p.His250=)
|
rs1255224715
|
|
NM_000532.5(PCCB):c.753C>T (p.Thr251=)
|
rs2108197383
|
|
NM_000532.5(PCCB):c.763+12dup
|
|
|
NM_000532.5(PCCB):c.763+16G>A
|
|
|
NM_000532.5(PCCB):c.763+3GA[4]
|
rs1553778916
|
|
NM_000532.5(PCCB):c.763+7G>A
|
|
|
NM_000532.5(PCCB):c.763+8G>A
|
rs2108197414
|
|
NM_000532.5(PCCB):c.763+8G>C
|
rs2108197414
|
|
NM_000532.5(PCCB):c.764-10G>A
|
|
|
NM_000532.5(PCCB):c.764-10G>C
|
rs372617301
|
|
NM_000532.5(PCCB):c.764-11del
|
|
|
NM_000532.5(PCCB):c.764-16C>T
|
|
|
NM_000532.5(PCCB):c.764-17G>T
|
|
|
NM_000532.5(PCCB):c.764-18T>G
|
|
|
NM_000532.5(PCCB):c.764-5C>A
|
rs1934010592
|
|
NM_000532.5(PCCB):c.764-7C>A
|
|
|
NM_000532.5(PCCB):c.764-7C>T
|
|
|
NM_000532.5(PCCB):c.765T>C (p.Gly255=)
|
rs2108202688
|
|
NM_000532.5(PCCB):c.768G>A (p.Val256=)
|
rs2108202690
|
|
NM_000532.5(PCCB):c.774C>T (p.His258=)
|
rs141615209
|
|
NM_000532.5(PCCB):c.780T>G (p.Ala260=)
|
|
|
NM_000532.5(PCCB):c.786A>G (p.Glu262=)
|
|
|
NM_000532.5(PCCB):c.78C>A (p.Arg26=)
|
|
|
NM_000532.5(PCCB):c.78C>T (p.Arg26=)
|
|
|
NM_000532.5(PCCB):c.814C>A (p.Arg272=)
|
|
|
NM_000532.5(PCCB):c.816G>A (p.Arg272=)
|
|
|
NM_000532.5(PCCB):c.816G>C (p.Arg272=)
|
rs762223074
|
|
NM_000532.5(PCCB):c.816G>T (p.Arg272=)
|
|
|
NM_000532.5(PCCB):c.828C>T (p.Asn276=)
|
|
|
NM_000532.5(PCCB):c.837C>G (p.Pro279=)
|
|
|
NM_000532.5(PCCB):c.840G>A (p.Leu280=)
|
rs1934015229
|
|
NM_000532.5(PCCB):c.852C>T (p.Asp284=)
|
rs1298793935
|
|
NM_000532.5(PCCB):c.861C>A (p.Pro287=)
|
rs779786032
|
|
NM_000532.5(PCCB):c.861C>T (p.Pro287=)
|
rs779786032
|
|
NM_000532.5(PCCB):c.862G>A (p.Val288Ile)
|
rs201984177
|
|
NM_000532.5(PCCB):c.864C>A (p.Val288=)
|
rs1934016889
|
|
NM_000532.5(PCCB):c.876C>T (p.His292=)
|
rs776893713
|
|
NM_000532.5(PCCB):c.884+10A>G
|
rs2108202951
|
|
NM_000532.5(PCCB):c.884+11G>A
|
|
|
NM_000532.5(PCCB):c.884+14C>A
|
|
|
NM_000532.5(PCCB):c.884+16dup
|
|
|
NM_000532.5(PCCB):c.884+19C>G
|
|
|
NM_000532.5(PCCB):c.884+8G>A
|
rs187345727
|
|
NM_000532.5(PCCB):c.884+8G>T
|
rs187345727
|
|
NM_000532.5(PCCB):c.885-17C>G
|
|
|
NM_000532.5(PCCB):c.885-18C>T
|
rs1482092717
|
|
NM_000532.5(PCCB):c.885-6C>T
|
|
|
NM_000532.5(PCCB):c.892C>T (p.Leu298=)
|
|
|
NM_000532.5(PCCB):c.894G>A (p.Leu298=)
|
rs746964439
|
|
NM_000532.5(PCCB):c.912A>G (p.Thr304=)
|
rs778118663
|
|
NM_000532.5(PCCB):c.933C>G (p.Thr311=)
|
rs776005016
|
|
NM_000532.5(PCCB):c.951G>A (p.Val317=)
|
rs1366112071
|
|
NM_000532.5(PCCB):c.957C>T (p.Ile319=)
|
rs868483670
|
|
NM_000532.5(PCCB):c.963C>T (p.His321=)
|
rs754807564
|
|
NM_000532.5(PCCB):c.966+10A>G
|
rs2108208861
|
|
NM_000532.5(PCCB):c.966+13T>C
|
|
|
NM_000532.5(PCCB):c.966+15T>C
|
|
|
NM_000532.5(PCCB):c.966+18T>A
|
|
|
NM_000532.5(PCCB):c.966+18T>C
|
rs756231828
|
|
NM_000532.5(PCCB):c.966+18_966+21del
|
|
|
NM_000532.5(PCCB):c.966+19T>C
|
rs1472403904
|
|
NM_000532.5(PCCB):c.966+20G>T
|
|
|
NM_000532.5(PCCB):c.966+8C>T
|
|
|
NM_000532.5(PCCB):c.967-10A>T
|
|
|
NM_000532.5(PCCB):c.967-18G>A
|
rs2108226497
|
|
NM_000532.5(PCCB):c.967-4G>T
|
rs2108226511
|
|
NM_000532.5(PCCB):c.967-5T>G
|
rs1934917985
|
|
NM_000532.5(PCCB):c.967-7C>T
|
|
|
NM_000532.5(PCCB):c.967-8dup
|
|
|
NM_000532.5(PCCB):c.96C>A (p.Ala32=)
|
rs2108127912
|
|
NM_000532.5(PCCB):c.96C>T (p.Ala32=)
|
rs2108127912
|
|
NM_000532.5(PCCB):c.980G>A (p.Arg327His)
|
|
|
NM_000532.5(PCCB):c.99C>G (p.Thr33=)
|
|
|
NM_000532.5(PCCB):c.99C>T (p.Thr33=)
|
|
|
NM_000532.5(PCCB):c.9G>A (p.Ala3=)
|
rs763025114
|
|
NM_000554.6(CRX):c.101-10C>T
|
|
|
NM_000554.6(CRX):c.109A>C (p.Arg37=)
|
|
|
NM_000554.6(CRX):c.123G>A (p.Arg41=)
|
rs181068147
|
|
NM_000554.6(CRX):c.129C>T (p.Arg43=)
|
rs775065439
|
|
NM_000554.6(CRX):c.138C>T (p.Phe46=)
|
|
|
NM_000554.6(CRX):c.151C>T (p.Leu51=)
|
|
|
NM_000554.6(CRX):c.165G>A (p.Glu55=)
|
|
|
NM_000554.6(CRX):c.177C>T (p.Ala59=)
|
|
|
NM_000554.6(CRX):c.198C>T (p.Val66=)
|
|
|
NM_000554.6(CRX):c.213G>A (p.Glu71=)
|
|
|
NM_000554.6(CRX):c.216G>A (p.Val72=)
|
rs2123739992
|
|
NM_000554.6(CRX):c.240G>A (p.Glu80=)
|
|
|
NM_000554.6(CRX):c.252+18_252+24del
|
rs2123740025
|
|
NM_000554.6(CRX):c.270G>C (p.Arg90=)
|
|
|
NM_000554.6(CRX):c.339G>A (p.Lys113=)
|
rs761978269
|
|
NM_000554.6(CRX):c.342C>T (p.Ala114=)
|
|
|
NM_000554.6(CRX):c.345G>A (p.Arg115=)
|
rs1968162928
|
|
NM_000554.6(CRX):c.360G>A (p.Lys120=)
|
|
|
NM_000554.6(CRX):c.372C>A (p.Ser124=)
|
rs755797220
|
|
NM_000554.6(CRX):c.390T>C (p.Asp130=)
|
|
|
NM_000554.6(CRX):c.406C>T (p.Leu136=)
|
|
|
NM_000554.6(CRX):c.408G>C (p.Leu136=)
|
|
|
NM_000554.6(CRX):c.441C>A (p.Pro147=)
|
|
|
NM_000554.6(CRX):c.441C>T (p.Pro147=)
|
rs147422878
|
|
NM_000554.6(CRX):c.462C>T (p.Thr154=)
|
rs2123743108
|
|
NM_000554.6(CRX):c.522G>A (p.Ala174=)
|
rs376827106
|
|
NM_000554.6(CRX):c.52C>T (p.Leu18=)
|
|
|
NM_000554.6(CRX):c.534G>C (p.Gly178=)
|
|
|
NM_000554.6(CRX):c.543C>A (p.Ala181=)
|
|
|
NM_000554.6(CRX):c.555T>A (p.Ser185=)
|
|
|
NM_000554.6(CRX):c.60C>T (p.Gly20=)
|
|
|
NM_000554.6(CRX):c.633G>A (p.Pro211=)
|
|
|
NM_000554.6(CRX):c.678G>A (p.Val226=)
|
|
|
NM_000554.6(CRX):c.690G>T (p.Gly230=)
|
rs936709261
|
|
NM_000554.6(CRX):c.717C>A (p.Gly239=)
|
rs886054546
|
|
NM_000554.6(CRX):c.777C>T (p.Gly259=)
|
|
|
NM_000554.6(CRX):c.786C>T (p.Ser262=)
|
|
|
NM_000554.6(CRX):c.81C>T (p.His27=)
|
rs2123738329
|
|
NM_000554.6(CRX):c.852C>T (p.Asp284=)
|
rs771721958
|
|
NM_000554.6(CRX):c.856C>T (p.Leu286=)
|
rs2123743743
|
|
NM_000554.6(CRX):c.876T>C (p.Ser292=)
|
rs2123743757
|
|
NM_000554.6(CRX):c.894C>A (p.Ile298=)
|
|
|
NM_000687.4(AHCY):c.1003C>T (p.Arg335Cys)
|
rs565486330
|
|
NM_000687.4(AHCY):c.1029G>T (p.Arg343=)
|
|
|
NM_000687.4(AHCY):c.1068C>T (p.Phe356=)
|
|
|
NM_000687.4(AHCY):c.1086C>T (p.Phe362=)
|
|
|
NM_000687.4(AHCY):c.1089C>T (p.Thr363=)
|
|
|
NM_000687.4(AHCY):c.1104G>A (p.Ala368=)
|
|
|
NM_000687.4(AHCY):c.1110C>A (p.Ile370=)
|
|
|
NM_000687.4(AHCY):c.1110C>T (p.Ile370=)
|
|
|
NM_000687.4(AHCY):c.1114C>T (p.Leu372=)
|
|
|
NM_000687.4(AHCY):c.1140C>T (p.Pro380=)
|
|
|
NM_000687.4(AHCY):c.1167+14_1167+16del
|
rs766042035
|
|
NM_000687.4(AHCY):c.1168-9T>C
|
rs2122711427
|
|
NM_000687.4(AHCY):c.120G>A (p.Ser40=)
|
|
|
NM_000687.4(AHCY):c.1215G>A (p.Lys405=)
|
|
|
NM_000687.4(AHCY):c.1261T>C (p.Cys421Arg)
|
|
|
NM_000687.4(AHCY):c.129G>A (p.Lys43=)
|
|
|
NM_000687.4(AHCY):c.141C>T (p.Gly47=)
|
|
|
NM_000687.4(AHCY):c.18C>T (p.Pro6=)
|
rs1601690050
|
|
NM_000687.4(AHCY):c.201C>T (p.Leu67=)
|
|
|
NM_000687.4(AHCY):c.219+13G>A
|
|
|
NM_000687.4(AHCY):c.219+15T>C
|
|
|
NM_000687.4(AHCY):c.219+18A>G
|
rs2122783447
|
|
NM_000687.4(AHCY):c.220-4C>G
|
|
|
NM_000687.4(AHCY):c.255G>A (p.Gln85=)
|
|
|
NM_000687.4(AHCY):c.264G>A (p.Ala88=)
|
|
|
NM_000687.4(AHCY):c.267G>A (p.Ala89=)
|
|
|
NM_000687.4(AHCY):c.273C>T (p.Ala91=)
|
|
|
NM_000687.4(AHCY):c.28+14C>T
|
|
|
NM_000687.4(AHCY):c.28+15C>G
|
|
|
NM_000687.4(AHCY):c.29-15T>C
|
|
|
NM_000687.4(AHCY):c.295+11C>T
|
|
|
NM_000687.4(AHCY):c.296-12C>T
|
|
|
NM_000687.4(AHCY):c.296-13A>G
|
|
|
NM_000687.4(AHCY):c.296-4C>G
|
|
|
NM_000687.4(AHCY):c.297G>A (p.Val99=)
|
|
|
NM_000687.4(AHCY):c.318G>A (p.Thr106=)
|
|
|
NM_000687.4(AHCY):c.366C>T (p.Asp122=)
|
|
|
NM_000687.4(AHCY):c.36C>T (p.Ile12=)
|
|
|
NM_000687.4(AHCY):c.399C>T (p.Gly133=)
|
|
|
NM_000687.4(AHCY):c.39C>T (p.Gly13=)
|
|
|
NM_000687.4(AHCY):c.432G>A (p.Pro144=)
|
|
|
NM_000687.4(AHCY):c.445+12G>A
|
|
|
NM_000687.4(AHCY):c.445+17A>G
|
|
|
NM_000687.4(AHCY):c.446-13C>G
|
|
|
NM_000687.4(AHCY):c.446-17T>C
|
|
|
NM_000687.4(AHCY):c.474G>A (p.Thr158=)
|
|
|
NM_000687.4(AHCY):c.546C>T (p.Asp182=)
|
rs1363332391
|
|
NM_000687.4(AHCY):c.549C>T (p.Ser183=)
|
|
|
NM_000687.4(AHCY):c.552C>T (p.Val184=)
|
|
|
NM_000687.4(AHCY):c.558+20C>T
|
|
|
NM_000687.4(AHCY):c.559-13_559-12dup
|
|
|
NM_000687.4(AHCY):c.570C>T (p.Asp190=)
|
|
|
NM_000687.4(AHCY):c.63C>T (p.Ala21=)
|
|
|
NM_000687.4(AHCY):c.648G>A (p.Ala216=)
|
|
|
NM_000687.4(AHCY):c.648G>C (p.Ala216=)
|
|
|
NM_000687.4(AHCY):c.64C>T (p.Leu22=)
|
|
|
NM_000687.4(AHCY):c.690G>A (p.Gln230=)
|
|
|
NM_000687.4(AHCY):c.705C>T (p.Phe235=)
|
|
|
NM_000687.4(AHCY):c.714C>T (p.Arg238=)
|
|
|
NM_000687.4(AHCY):c.766+13A>G
|
|
|
NM_000687.4(AHCY):c.766+14A>G
|
|
|
NM_000687.4(AHCY):c.766+7T>C
|
|
|
NM_000687.4(AHCY):c.767-8_767-7del
|
rs61664915
|
|
NM_000687.4(AHCY):c.81C>T (p.Asn27=)
|
|
|
NM_000687.4(AHCY):c.822C>T (p.Thr274=)
|
|
|
NM_000687.4(AHCY):c.825C>T (p.Thr275=)
|
|
|
NM_000687.4(AHCY):c.854+17G>A
|
|
|
NM_000687.4(AHCY):c.854+18G>A
|
|
|
NM_000687.4(AHCY):c.855-9G>C
|
|
|
NM_000687.4(AHCY):c.90G>A (p.Pro30=)
|
|
|
NM_000687.4(AHCY):c.90G>C (p.Pro30=)
|
|
|
NM_000687.4(AHCY):c.924C>G (p.Val308=)
|
|
|
NM_000687.4(AHCY):c.954G>A (p.Lys318=)
|
|
|
NM_000687.4(AHCY):c.963C>A (p.Ile321=)
|
|
|
NM_000687.4(AHCY):c.969G>A (p.Pro323=)
|
|
|
NM_000687.4(AHCY):c.972+13C>T
|
|
|
NM_000687.4(AHCY):c.973-10C>T
|
|
|
NM_000687.4(AHCY):c.973-17G>C
|
|
|
NM_000687.4(AHCY):c.973-17G>T
|
|
|
NM_000687.4(AHCY):c.973-6G>A
|
|
|
NM_000687.4(AHCY):c.973-6G>C
|
|
|
NM_000687.4(AHCY):c.981G>A (p.Arg327=)
|
rs1338041155
|
|
NM_000687.4(AHCY):c.987G>A (p.Arg329=)
|
|
|
NM_000709.4(BCKDHA):c.1032G>T (p.Ala344=)
|
rs376446100
|
|
NM_000709.4(BCKDHA):c.1041G>T (p.Ser347=)
|
|
|
NM_000709.4(BCKDHA):c.1059C>T (p.Tyr353=)
|
rs2122146414
|
|
NM_000709.4(BCKDHA):c.108+14C>T
|
|
|
NM_000709.4(BCKDHA):c.108+15C>A
|
|
|
NM_000709.4(BCKDHA):c.108+17C>T
|
|
|
NM_000709.4(BCKDHA):c.108+8C>T
|
rs1235086887
|
|
NM_000709.4(BCKDHA):c.108+9C>T
|
|
|
NM_000709.4(BCKDHA):c.1080C>A (p.Pro360=)
|
rs373390136
|
|
NM_000709.4(BCKDHA):c.1080C>G (p.Pro360=)
|
rs373390136
|
|
NM_000709.4(BCKDHA):c.109-11C>G
|
|
|
NM_000709.4(BCKDHA):c.109-14G>A
|
|
|
NM_000709.4(BCKDHA):c.109-16C>T
|
rs2123253546
|
|
NM_000709.4(BCKDHA):c.109-19C>T
|
|
|
NM_000709.4(BCKDHA):c.109-4C>G
|
rs2039240714
|
|
NM_000709.4(BCKDHA):c.109-5C>T
|
rs2123253575
|
|
NM_000709.4(BCKDHA):c.109-6C>T
|
|
|
NM_000709.4(BCKDHA):c.109-9C>G
|
rs866091918
|
|
NM_000709.4(BCKDHA):c.109-9C>T
|
rs866091918
|
|
NM_000709.4(BCKDHA):c.1090C>T (p.Leu364=)
|
|
|
NM_000709.4(BCKDHA):c.1101T>C (p.Tyr367=)
|
rs2039388598
|
|
NM_000709.4(BCKDHA):c.1113A>G (p.Gln371=)
|
rs2039388745
|
|
NM_000709.4(BCKDHA):c.111C>T (p.His37=)
|
|
|
NM_000709.4(BCKDHA):c.115C>T (p.Pro39Ser)
|
rs750739703
|
|
NM_000709.4(BCKDHA):c.1167+11C>A
|
|
|
NM_000709.4(BCKDHA):c.1167+13C>T
|
|
|
NM_000709.4(BCKDHA):c.1167+17C>A
|
|
|
NM_000709.4(BCKDHA):c.1167+17C>T
|
rs550593850
|
|
NM_000709.4(BCKDHA):c.1167+18G>A
|
|
|
NM_000709.4(BCKDHA):c.1167+19G>C
|
|
|
NM_000709.4(BCKDHA):c.1167+7G>A
|
|
|
NM_000709.4(BCKDHA):c.1168-10G>C
|
|
|
NM_000709.4(BCKDHA):c.1168-11dup
|
|
|
NM_000709.4(BCKDHA):c.1168-12A>G
|
|
|
NM_000709.4(BCKDHA):c.1168-15C>A
|
|
|
NM_000709.4(BCKDHA):c.1168-16C>T
|
|
|
NM_000709.4(BCKDHA):c.1168-4A>G
|
rs2039405052
|
|
NM_000709.4(BCKDHA):c.1168-6C>T
|
rs1045187712
|
|
NM_000709.4(BCKDHA):c.1168-8C>G
|
rs2039404920
|
|
NM_000709.4(BCKDHA):c.116C>G (p.Pro39Arg)
|
|
|
NM_000709.4(BCKDHA):c.1170G>A (p.Val390=)
|
|
|
NM_000709.4(BCKDHA):c.1179C>G (p.Ala393=)
|
rs2122150496
|
|
NM_000709.4(BCKDHA):c.117C>G (p.Pro39=)
|
rs80014754
|
|
NM_000709.4(BCKDHA):c.117C>T (p.Pro39=)
|
|
|
NM_000709.4(BCKDHA):c.1182T>C (p.Phe394=)
|
|
|
NM_000709.4(BCKDHA):c.1194G>A (p.Glu398=)
|
|
|
NM_000709.4(BCKDHA):c.1197G>C (p.Arg399=)
|
rs2122150577
|
|
NM_000709.4(BCKDHA):c.1203C>G (p.Pro401=)
|
rs2122150604
|
|
NM_000709.4(BCKDHA):c.1209C>G (p.Pro403=)
|
|
|
NM_000709.4(BCKDHA):c.1215C>A (p.Pro405=)
|
rs2122150692
|
|
NM_000709.4(BCKDHA):c.1236G>C (p.Val412=)
|
rs2122150817
|
|
NM_000709.4(BCKDHA):c.123G>A (p.Gln41=)
|
rs2123253682
|
|
NM_000709.4(BCKDHA):c.1275G>A (p.Glu425=)
|
rs2122151027
|
|
NM_000709.4(BCKDHA):c.1278T>A (p.Ser426=)
|
rs2122151044
|
|
NM_000709.4(BCKDHA):c.1281G>C (p.Leu427=)
|
|
|
NM_000709.4(BCKDHA):c.12G>A (p.Ala4=)
|
|
|
NM_000709.4(BCKDHA):c.12G>C (p.Ala4=)
|
rs2123232527
|
|
NM_000709.4(BCKDHA):c.1308G>A (p.Glu436=)
|
rs755138169
|
|
NM_000709.4(BCKDHA):c.1311C>T (p.His437=)
|
|
|
NM_000709.4(BCKDHA):c.1314C>T (p.Tyr438=)
|
rs398123493
|
|
NM_000709.4(BCKDHA):c.1317A>C (p.Pro439=)
|
rs749795206
|
|
NM_000709.4(BCKDHA):c.1332T>C (p.Asp444=)
|
|
|
NM_000709.4(BCKDHA):c.1335G>A (p.Lys445=)
|
|
|
NM_000709.4(BCKDHA):c.138A>T (p.Ser46=)
|
rs1342568998
|
|
NM_000709.4(BCKDHA):c.156C>T (p.Pro52=)
|
|
|
NM_000709.4(BCKDHA):c.15C>A (p.Ile5=)
|
rs17173144
|
|
NM_000709.4(BCKDHA):c.165A>G (p.Pro55=)
|
rs1216017259
|
|
NM_000709.4(BCKDHA):c.171C>T (p.Ala57=)
|
rs2039242293
|
|
NM_000709.4(BCKDHA):c.183T>C (p.Phe61=)
|
|
|
NM_000709.4(BCKDHA):c.186A>T (p.Ile62=)
|
rs149251798
|
|
NM_000709.4(BCKDHA):c.198A>G (p.Glu66=)
|
|
|
NM_000709.4(BCKDHA):c.204C>A (p.Ile68=)
|
rs2123253880
|
|
NM_000709.4(BCKDHA):c.210C>T (p.Pro70=)
|
|
|
NM_000709.4(BCKDHA):c.216C>G (p.Val72=)
|
|
|
NM_000709.4(BCKDHA):c.21A>C (p.Ala7=)
|
|
|
NM_000709.4(BCKDHA):c.21A>G (p.Ala7=)
|
|
|
NM_000709.4(BCKDHA):c.222T>G (p.Ser74=)
|
|
|
NM_000709.4(BCKDHA):c.228C>T (p.Ile76=)
|
|
|
NM_000709.4(BCKDHA):c.231C>A (p.Pro77=)
|
|
|
NM_000709.4(BCKDHA):c.231C>G (p.Pro77=)
|
rs2123253941
|
|
NM_000709.4(BCKDHA):c.243C>A (p.Val81=)
|
rs2123253975
|
|
NM_000709.4(BCKDHA):c.24G>A (p.Ala8=)
|
rs1348307618
|
|
NM_000709.4(BCKDHA):c.252G>A (p.Arg84=)
|
|
|
NM_000709.4(BCKDHA):c.252G>T (p.Arg84=)
|
rs2123254022
|
|
NM_000709.4(BCKDHA):c.258C>G (p.Gly86=)
|
rs2123254043
|
|
NM_000709.4(BCKDHA):c.282C>T (p.Asp94=)
|
rs922714716
|
|
NM_000709.4(BCKDHA):c.288+10G>C
|
rs376894084
|
|
NM_000709.4(BCKDHA):c.288+11G>A
|
|
|
NM_000709.4(BCKDHA):c.288+15C>T
|
|
|
NM_000709.4(BCKDHA):c.288+16C>T
|
|
|
NM_000709.4(BCKDHA):c.288+19C>A
|
|
|
NM_000709.4(BCKDHA):c.288+19C>G
|
|
|
NM_000709.4(BCKDHA):c.288+19C>T
|
|
|
NM_000709.4(BCKDHA):c.289-10C>T
|
rs2123254428
|
|
NM_000709.4(BCKDHA):c.289-12C>T
|
|
|
NM_000709.4(BCKDHA):c.289-17T>G
|
|
|
NM_000709.4(BCKDHA):c.289-20A>G
|
|
|
NM_000709.4(BCKDHA):c.289-4G>A
|
rs765966197
|
|
NM_000709.4(BCKDHA):c.289-4G>C
|
|
|
NM_000709.4(BCKDHA):c.289-6C>G
|
|
|
NM_000709.4(BCKDHA):c.289-7C>A
|
|
|
NM_000709.4(BCKDHA):c.289-7C>T
|
rs1270974379
|
|
NM_000709.4(BCKDHA):c.289-8A>C
|
|
|
NM_000709.4(BCKDHA):c.291G>A (p.Leu97=)
|
|
|
NM_000709.4(BCKDHA):c.294G>C (p.Pro98=)
|
rs142967869
|
|
NM_000709.4(BCKDHA):c.306G>A (p.Val102=)
|
rs755966459
|
|
NM_000709.4(BCKDHA):c.309G>A (p.Leu103=)
|
|
|
NM_000709.4(BCKDHA):c.30C>G (p.Val10=)
|
rs2123232613
|
|
NM_000709.4(BCKDHA):c.30C>T (p.Val10=)
|
rs2123232613
|
|
NM_000709.4(BCKDHA):c.315C>T (p.Leu105=)
|
|
|
NM_000709.4(BCKDHA):c.318C>T (p.Tyr106=)
|
|
|
NM_000709.4(BCKDHA):c.324C>T (p.Ser108=)
|
|
|
NM_000709.4(BCKDHA):c.330A>G (p.Thr110=)
|
|
|
NM_000709.4(BCKDHA):c.336T>A (p.Leu112=)
|
rs150700696
|
|
NM_000709.4(BCKDHA):c.342C>T (p.Thr114=)
|
|
|
NM_000709.4(BCKDHA):c.348C>T (p.Asp116=)
|
rs2123254617
|
|
NM_000709.4(BCKDHA):c.357C>T (p.Leu119=)
|
|
|
NM_000709.4(BCKDHA):c.35G>C (p.Arg12Pro)
|
rs769659202
|
|
NM_000709.4(BCKDHA):c.375+16A>G
|
|
|
NM_000709.4(BCKDHA):c.375+17C>T
|
|
|
NM_000709.4(BCKDHA):c.375+19del
|
|
|
NM_000709.4(BCKDHA):c.375+7G>A
|
|
|
NM_000709.4(BCKDHA):c.375+9G>A
|
rs2123254726
|
|
NM_000709.4(BCKDHA):c.376-10A>G
|
rs3213861
|
|
NM_000709.4(BCKDHA):c.376-10_376-9delinsCA
|
rs2123259725
|
|
NM_000709.4(BCKDHA):c.376-12C>T
|
|
|
NM_000709.4(BCKDHA):c.376-13T>A
|
|
|
NM_000709.4(BCKDHA):c.376-15C>A
|
|
|
NM_000709.4(BCKDHA):c.376-20G>C
|
|
|
NM_000709.4(BCKDHA):c.376-8A>T
|
rs398123501
|
|
NM_000709.4(BCKDHA):c.376-9C>T
|
rs555417586
|
|
NM_000709.4(BCKDHA):c.387C>T (p.Ser129=)
|
|
|
NM_000709.4(BCKDHA):c.39A>G (p.Leu13=)
|
|
|
NM_000709.4(BCKDHA):c.420G>C (p.Thr140=)
|
|
|
NM_000709.4(BCKDHA):c.420G>T (p.Thr140=)
|
rs143608852
|
|
NM_000709.4(BCKDHA):c.423C>T (p.His141=)
|
rs146804716
|
|
NM_000709.4(BCKDHA):c.426G>A (p.Val142=)
|
rs748925009
|
|
NM_000709.4(BCKDHA):c.42C>T (p.Asn14=)
|
rs1568499644
|
|
NM_000709.4(BCKDHA):c.434C>T (p.Ala145Val)
|
rs1331666622
|
|
NM_000709.4(BCKDHA):c.438C>G (p.Ala146=)
|
rs200947033
|
|
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=)
|
rs2039284438
|
|
NM_000709.4(BCKDHA):c.453G>A (p.Thr151=)
|
|
|
NM_000709.4(BCKDHA):c.459G>A (p.Leu153=)
|
|
|
NM_000709.4(BCKDHA):c.484+10T>G
|
rs2122122705
|
|
NM_000709.4(BCKDHA):c.484+12C>T
|
|
|
NM_000709.4(BCKDHA):c.484+13G>A
|
|
|
NM_000709.4(BCKDHA):c.484+16G>A
|
|
|
NM_000709.4(BCKDHA):c.484+18T>A
|
|
|
NM_000709.4(BCKDHA):c.484+19T>C
|
|
|
NM_000709.4(BCKDHA):c.484+7C>T
|
|
|
NM_000709.4(BCKDHA):c.484+7dup
|
|
|
NM_000709.4(BCKDHA):c.484+8_484+11dup
|
rs1489683670
|
|
NM_000709.4(BCKDHA):c.485-10C>A
|
rs760838451
|
|
NM_000709.4(BCKDHA):c.485-10C>T
|
|
|
NM_000709.4(BCKDHA):c.485-13C>G
|
|
|
NM_000709.4(BCKDHA):c.485-19T>C
|
|
|
NM_000709.4(BCKDHA):c.485-7C>G
|
|
|
NM_000709.4(BCKDHA):c.485-8C>T
|
|
|
NM_000709.4(BCKDHA):c.489G>A (p.Val163=)
|
rs2122134466
|
|
NM_000709.4(BCKDHA):c.510C>T (p.Pro170=)
|
|
|
NM_000709.4(BCKDHA):c.519A>G (p.Leu173=)
|
|
|
NM_000709.4(BCKDHA):c.522C>T (p.Phe174=)
|
|
|
NM_000709.4(BCKDHA):c.549T>C (p.Ser183=)
|
rs981398635
|
|
NM_000709.4(BCKDHA):c.567C>T (p.Arg189=)
|
|
|
NM_000709.4(BCKDHA):c.582C>T (p.His194=)
|
|
|
NM_000709.4(BCKDHA):c.588C>G (p.Gly196=)
|
rs2122134825
|
|
NM_000709.4(BCKDHA):c.60T>A (p.Ala20=)
|
|
|
NM_000709.4(BCKDHA):c.60T>C (p.Ala20=)
|
rs751351926
|
|
NM_000709.4(BCKDHA):c.625C>T (p.Leu209=)
|
rs762226416
|
|
NM_000709.4(BCKDHA):c.633G>T (p.Thr211=)
|
rs750729027
|
|
NM_000709.4(BCKDHA):c.639C>A (p.Ile213=)
|
rs10404506
|
|
NM_000709.4(BCKDHA):c.63C>G (p.Ala21=)
|
rs140322984
|
|
NM_000709.4(BCKDHA):c.646+13G>C
|
|
|
NM_000709.4(BCKDHA):c.646+15C>T
|
|
|
NM_000709.4(BCKDHA):c.646+20A>G
|
|
|
NM_000709.4(BCKDHA):c.646+7ATGC[3]
|
rs2122135109
|
|
NM_000709.4(BCKDHA):c.646+8T>C
|
|
|
NM_000709.4(BCKDHA):c.647-10T>C
|
|
|
NM_000709.4(BCKDHA):c.647-18C>T
|
|
|
NM_000709.4(BCKDHA):c.647-19A>G
|
|
|
NM_000709.4(BCKDHA):c.647-6C>T
|
rs1304412476
|
|
NM_000709.4(BCKDHA):c.647-7C>T
|
|
|
NM_000709.4(BCKDHA):c.648G>C (p.Ala216=)
|
|
|
NM_000709.4(BCKDHA):c.657G>C (p.Ala219=)
|
|
|
NM_000709.4(BCKDHA):c.669C>A (p.Ala223=)
|
|
|
NM_000709.4(BCKDHA):c.66C>T (p.Leu22=)
|
|
|
NM_000709.4(BCKDHA):c.672G>A (p.Lys224=)
|
|
|
NM_000709.4(BCKDHA):c.675G>T (p.Arg225=)
|
rs2122142848
|
|
NM_000709.4(BCKDHA):c.69G>C (p.Leu23=)
|
rs2123232753
|
|
NM_000709.4(BCKDHA):c.6G>A (p.Ala2=)
|
rs1420392096
|
|
NM_000709.4(BCKDHA):c.705C>T (p.Tyr235=)
|
rs2039374030
|
|
NM_000709.4(BCKDHA):c.723C>T (p.Ala241=)
|
rs2122143075
|
|
NM_000709.4(BCKDHA):c.753C>T (p.Asn251=)
|
|
|
NM_000709.4(BCKDHA):c.75G>A (p.Leu25=)
|
rs1599945228
|
|
NM_000709.4(BCKDHA):c.762C>T (p.Ala254=)
|
|
|
NM_000709.4(BCKDHA):c.765A>G (p.Thr255=)
|
rs1305172669
|
|
NM_000709.4(BCKDHA):c.777C>T (p.Pro259=)
|
|
|
NM_000709.4(BCKDHA):c.789C>T (p.Phe263=)
|
|
|
NM_000709.4(BCKDHA):c.810C>T (p.Ala270=)
|
rs2039376289
|
|
NM_000709.4(BCKDHA):c.816C>G (p.Ser272=)
|
|
|
NM_000709.4(BCKDHA):c.819G>A (p.Thr273=)
|
rs201991385
|
|
NM_000709.4(BCKDHA):c.822C>T (p.Pro274=)
|
rs2122143602
|
|
NM_000709.4(BCKDHA):c.825C>T (p.Thr275=)
|
rs1555767021
|
|
NM_000709.4(BCKDHA):c.828T>G (p.Ser276=)
|
rs2039376515
|
|
NM_000709.4(BCKDHA):c.84T>G (p.Pro28=)
|
|
|
NM_000709.4(BCKDHA):c.853+10C>T
|
|
|
NM_000709.4(BCKDHA):c.853+11T>C
|
rs1555767032
|
|
NM_000709.4(BCKDHA):c.853+12G>A
|
|
|
NM_000709.4(BCKDHA):c.853+13C>T
|
|
|
NM_000709.4(BCKDHA):c.853+19G>A
|
|
|
NM_000709.4(BCKDHA):c.853+19G>T
|
|
|
NM_000709.4(BCKDHA):c.853+20C>T
|
|
|
NM_000709.4(BCKDHA):c.853+8C>T
|
|
|
NM_000709.4(BCKDHA):c.854-14C>G
|
rs372967761
|
|
NM_000709.4(BCKDHA):c.854-14_854-13del
|
|
|
NM_000709.4(BCKDHA):c.854-16C>T
|
|
|
NM_000709.4(BCKDHA):c.854-8C>T
|
|
|
NM_000709.4(BCKDHA):c.87G>A (p.Gly29=)
|
rs1599945255
|
|
NM_000709.4(BCKDHA):c.888C>T (p.Ile296=)
|
rs1237555239
|
|
NM_000709.4(BCKDHA):c.918A>C (p.Val306=)
|
|
|
NM_000709.4(BCKDHA):c.939C>T (p.Ala313=)
|
rs2039381646
|
|
NM_000709.4(BCKDHA):c.940C>A (p.Arg314=)
|
rs753698250
|
|
NM_000709.4(BCKDHA):c.963C>T (p.Asn321=)
|
rs2122145204
|
|
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=)
|
rs398123514
|
|
NM_000709.4(BCKDHA):c.981G>A (p.Glu327=)
|
|
|
NM_000709.4(BCKDHA):c.990C>A (p.Thr330=)
|
rs1213059681
|
|
NM_000709.4(BCKDHA):c.990C>T (p.Thr330=)
|
|
|
NM_000709.4(BCKDHA):c.993C>T (p.Tyr331=)
|
|
|
NM_000709.4(BCKDHA):c.995+10G>C
|
|
|
NM_000709.4(BCKDHA):c.995+13C>T
|
|
|
NM_000709.4(BCKDHA):c.995+15C>T
|
|
|
NM_000709.4(BCKDHA):c.995+16C>A
|
|
|
NM_000709.4(BCKDHA):c.995+17C>G
|
|
|
NM_000709.4(BCKDHA):c.995+17C>T
|
|
|
NM_000709.4(BCKDHA):c.995+18C>A
|
|
|
NM_000709.4(BCKDHA):c.995+18C>G
|
|
|
NM_000709.4(BCKDHA):c.995+18C>T
|
|
|
NM_000709.4(BCKDHA):c.995+20T>C
|
|
|
NM_000709.4(BCKDHA):c.995+8C>T
|
rs886054462
|
|
NM_000709.4(BCKDHA):c.996-10C>G
|
rs748005370
|
|
NM_000709.4(BCKDHA):c.996-11C>T
|
|
|
NM_000709.4(BCKDHA):c.996-13T>C
|
|
|
NM_000709.4(BCKDHA):c.996-19G>A
|
|
|
NM_000709.4(BCKDHA):c.996-19G>C
|
|
|
NM_000709.4(BCKDHA):c.996-20G>A
|
|
|
NM_000709.4(BCKDHA):c.996-21_996-14del
|
|
|
NM_000709.4(BCKDHA):c.996-6G>C
|
rs74586298
|
|
NM_000709.4(BCKDHA):c.996-8C>T
|
|
|
NM_000709.4(BCKDHA):c.996-9C>G
|
rs2039386647
|
|
NM_001002755.4(NFU1):c.19C>A (p.Arg7=)
|
|
|
NM_001002755.4(NFU1):c.207A>G (p.Pro69=)
|
|
|
NM_001002755.4(NFU1):c.240T>A (p.Val80=)
|
|
|
NM_001002755.4(NFU1):c.303-19A>T
|
|
|
NM_001002755.4(NFU1):c.303-4G>A
|
|
|
NM_001002755.4(NFU1):c.313A>C (p.Arg105=)
|
|
|
NM_001002755.4(NFU1):c.324A>C (p.Gly108=)
|
|
|
NM_001002755.4(NFU1):c.370-4A>T
|
rs1673014101
|
|
NM_001002755.4(NFU1):c.370-7T>C
|
|
|
NM_001002755.4(NFU1):c.370-8G>A
|
|
|
NM_001002755.4(NFU1):c.39T>G (p.Ala13=)
|
|
|
NM_001002755.4(NFU1):c.484+7T>A
|
|
|
NM_001002755.4(NFU1):c.485-20T>A
|
|
|
NM_001002755.4(NFU1):c.485-8_485-5del
|
rs769116545
|
|
NM_001002755.4(NFU1):c.526T>C (p.Leu176=)
|
|
|
NM_001002755.4(NFU1):c.546-16T>G
|
rs750424685
|
|
NM_001002755.4(NFU1):c.62+12G>A
|
|
|
NM_001002755.4(NFU1):c.62+14C>G
|
rs370979719
|
|
NM_001002755.4(NFU1):c.62+14C>T
|
rs370979719
|
|
NM_001002755.4(NFU1):c.63-4G>A
|
|
|
NM_001002755.4(NFU1):c.69T>C (p.Cys23=)
|
rs2104814012
|
|
NM_001002755.4(NFU1):c.708A>G (p.Glu236=)
|
|
|
NM_001002755.4(NFU1):c.721-8G>C
|
rs1672329270
|
|
NM_001010867.4(IBA57):c.1005C>T (p.Ala335=)
|
|
|
NM_001010867.4(IBA57):c.1041G>T (p.Val347=)
|
|
|
NM_001010867.4(IBA57):c.147C>G (p.Ala49=)
|
|
|
NM_001010867.4(IBA57):c.156G>A (p.Arg52=)
|
rs1571913232
|
|
NM_001010867.4(IBA57):c.157C>T (p.Leu53=)
|
|
|
NM_001010867.4(IBA57):c.195C>T (p.Asp65=)
|
|
|
NM_001010867.4(IBA57):c.208C>T (p.Leu70=)
|
|
|
NM_001010867.4(IBA57):c.264C>T (p.Ala88=)
|
|
|
NM_001010867.4(IBA57):c.27C>T (p.Gly9=)
|
|
|
NM_001010867.4(IBA57):c.285C>A (p.Gly95=)
|
|
|
NM_001010867.4(IBA57):c.285C>T (p.Gly95=)
|
rs1276192566
|
|
NM_001010867.4(IBA57):c.298C>T (p.Leu100=)
|
rs12132960
|
|
NM_001010867.4(IBA57):c.30C>T (p.Ala10=)
|
|
|
NM_001010867.4(IBA57):c.315G>A (p.Arg105=)
|
|
|
NM_001010867.4(IBA57):c.339C>T (p.Tyr113=)
|
|
|
NM_001010867.4(IBA57):c.33T>A (p.Thr11=)
|
|
|
NM_001010867.4(IBA57):c.341+20G>A
|
|
|
NM_001010867.4(IBA57):c.342-15C>T
|
|
|
NM_001010867.4(IBA57):c.372C>T (p.Phe124=)
|
|
|
NM_001010867.4(IBA57):c.376C>T (p.Leu126=)
|
|
|
NM_001010867.4(IBA57):c.399G>A (p.Gln133=)
|
|
|
NM_001010867.4(IBA57):c.39G>A (p.Gly13=)
|
|
|
NM_001010867.4(IBA57):c.402C>A (p.Gly134=)
|
|
|
NM_001010867.4(IBA57):c.420C>G (p.Leu140=)
|
rs555630458
|
|
NM_001010867.4(IBA57):c.459G>A (p.Pro153=)
|
|
|
NM_001010867.4(IBA57):c.465G>C (p.Pro155=)
|
|
|
NM_001010867.4(IBA57):c.483G>T (p.Ala161=)
|
|
|
NM_001010867.4(IBA57):c.522G>A (p.Ser174=)
|
|
|
NM_001010867.4(IBA57):c.537A>C (p.Ala179=)
|
|
|
NM_001010867.4(IBA57):c.54C>T (p.Val18=)
|
|
|
NM_001010867.4(IBA57):c.567G>T (p.Pro189=)
|
rs764091126
|
|
NM_001010867.4(IBA57):c.585G>A (p.Gly195=)
|
rs2124976810
|
|
NM_001010867.4(IBA57):c.594C>T (p.Leu198=)
|
|
|
NM_001010867.4(IBA57):c.612C>G (p.Gly204=)
|
|
|
NM_001010867.4(IBA57):c.680-11A>G
|
|
|
NM_001010867.4(IBA57):c.680-16C>A
|
|
|
NM_001010867.4(IBA57):c.680-18C>G
|
|
|
NM_001010867.4(IBA57):c.680-6C>T
|
|
|
NM_001010867.4(IBA57):c.693G>A (p.Gly231=)
|
|
|
NM_001010867.4(IBA57):c.696C>A (p.Val232=)
|
|
|
NM_001010867.4(IBA57):c.720C>T (p.Ala240=)
|
|
|
NM_001010867.4(IBA57):c.739C>T (p.Leu247=)
|
|
|
NM_001010867.4(IBA57):c.753C>T (p.Asn251=)
|
|
|
NM_001010867.4(IBA57):c.768C>T (p.Thr256=)
|
rs760717161
|
|
NM_001010867.4(IBA57):c.825C>T (p.Ile275=)
|
|
|
NM_001010867.4(IBA57):c.84G>A (p.Arg28=)
|
|
|
NM_001010867.4(IBA57):c.906C>G (p.Ala302=)
|
|
|
NM_001010867.4(IBA57):c.948C>T (p.Asn316=)
|
|
|
NM_001010867.4(IBA57):c.961C>T (p.Leu321=)
|
rs376206530
|
|
NM_001010867.4(IBA57):c.987T>G (p.Gly329=)
|
|
|
NM_001017989.3(OPA3):c.414G>A (p.Ala138=)
|
rs566450630
|
|
NM_001024845.3(SLC6A9):c.1002C>T (p.Ser334=)
|
|
|
NM_001024845.3(SLC6A9):c.1053C>T (p.His351=)
|
|
|
NM_001024845.3(SLC6A9):c.1176T>C (p.Leu392=)
|
|
|
NM_001024845.3(SLC6A9):c.1182G>A (p.Leu394=)
|
|
|
NM_001024845.3(SLC6A9):c.1200+16C>T
|
|
|
NM_001024845.3(SLC6A9):c.1200+17G>T
|
|
|
NM_001024845.3(SLC6A9):c.1227A>G (p.Thr409=)
|
|
|
NM_001024845.3(SLC6A9):c.1245G>A (p.Val415=)
|
rs746403752
|
|
NM_001024845.3(SLC6A9):c.1311G>C (p.Leu437=)
|
rs1043389439
|
|
NM_001024845.3(SLC6A9):c.132C>T (p.Ala44=)
|
|
|
NM_001024845.3(SLC6A9):c.1335+12G>A
|
|
|
NM_001024845.3(SLC6A9):c.1335+16G>A
|
|
|
NM_001024845.3(SLC6A9):c.1336-9G>A
|
rs2086080391
|
|
NM_001024845.3(SLC6A9):c.1380C>T (p.Ser460=)
|
|
|
NM_001024845.3(SLC6A9):c.1435+19G>T
|
|
|
NM_001024845.3(SLC6A9):c.1437G>C (p.Gly479=)
|
|
|
NM_001024845.3(SLC6A9):c.144C>G (p.Gly48=)
|
|
|
NM_001024845.3(SLC6A9):c.1524C>T (p.Pro508=)
|
|
|
NM_001024845.3(SLC6A9):c.1536+9C>T
|
rs780348462
|
|
NM_001024845.3(SLC6A9):c.1537-14C>T
|
|
|
NM_001024845.3(SLC6A9):c.1537-16C>T
|
|
|
NM_001024845.3(SLC6A9):c.1537-6G>T
|
|
|
NM_001024845.3(SLC6A9):c.1537-8C>T
|
rs757540868
|
|
NM_001024845.3(SLC6A9):c.1656C>T (p.Pro552=)
|
|
|
NM_001024845.3(SLC6A9):c.1708-5T>C
|
|
|
NM_001024845.3(SLC6A9):c.1785C>T (p.Pro595=)
|
|
|
NM_001024845.3(SLC6A9):c.1809C>T (p.Asp603=)
|
|
|
NM_001024845.3(SLC6A9):c.1860G>T (p.Val620=)
|
|
|
NM_001024845.3(SLC6A9):c.187+15_187+16insGCACGGGGGAGGTACCCAGTGA
|
rs775860231
|
|
NM_001024845.3(SLC6A9):c.187+17G>A
|
|
|
NM_001024845.3(SLC6A9):c.1887G>A (p.Gln629=)
|
|
|
NM_001024845.3(SLC6A9):c.261C>T (p.Phe87=)
|
|
|
NM_001024845.3(SLC6A9):c.31-6157A>G
|
|
|
NM_001024845.3(SLC6A9):c.31-6195T>C
|
rs1392773049
|
|
NM_001024845.3(SLC6A9):c.31-6225G>T
|
rs201727215
|
|
NM_001024845.3(SLC6A9):c.31-6234G>A
|
|
|
NM_001024845.3(SLC6A9):c.31-6243C>T
|
|
|
NM_001024845.3(SLC6A9):c.31-6245G>A
|
|
|
NM_001024845.3(SLC6A9):c.31-682C>G
|
|
|
NM_001024845.3(SLC6A9):c.31-736C>T
|
|
|
NM_001024845.3(SLC6A9):c.31-757C>G
|
|
|
NM_001024845.3(SLC6A9):c.31-835G>A
|
|
|
NM_001024845.3(SLC6A9):c.31-856G>C
|
|
|
NM_001024845.3(SLC6A9):c.31-8C>T
|
|
|
NM_001024845.3(SLC6A9):c.319+13C>T
|
|
|
NM_001024845.3(SLC6A9):c.408G>A (p.Ser136=)
|
|
|
NM_001024845.3(SLC6A9):c.450C>G (p.Pro150=)
|
|
|
NM_001024845.3(SLC6A9):c.573C>T (p.Pro191=)
|
|
|
NM_001024845.3(SLC6A9):c.590+7C>G
|
rs1279993228
|
|
NM_001024845.3(SLC6A9):c.590+9C>T
|
rs752205928
|
|
NM_001024845.3(SLC6A9):c.591-16A>G
|
rs2154304738
|
|
NM_001024845.3(SLC6A9):c.645G>A (p.Leu215=)
|
rs200958790
|
|
NM_001024845.3(SLC6A9):c.690C>T (p.Leu230=)
|
|
|
NM_001024845.3(SLC6A9):c.723+10C>T
|
|
|
NM_001024845.3(SLC6A9):c.723+12T>A
|
|
|
NM_001024845.3(SLC6A9):c.724-16A>G
|
|
|
NM_001024845.3(SLC6A9):c.744G>A (p.Thr248=)
|
|
|
NM_001024845.3(SLC6A9):c.780C>T (p.Arg260=)
|
|
|
NM_001024845.3(SLC6A9):c.828C>T (p.Thr276=)
|
rs2154304674
|
|
NM_001024845.3(SLC6A9):c.859-6C>T
|
|
|
NM_001024845.3(SLC6A9):c.903C>T (p.Cys301=)
|
|
|
NM_001024845.3(SLC6A9):c.962+13T>C
|
|
|
NM_001024845.3(SLC6A9):c.962+13T>G
|
|
|
NM_001024845.3(SLC6A9):c.962+14G>T
|
|
|
NM_001024845.3(SLC6A9):c.962+19G>T
|
|
|
NM_001024845.3(SLC6A9):c.963-17G>A
|
|
|
NM_001024845.3(SLC6A9):c.963-5A>C
|
|
|
NM_001024845.3(SLC6A9):c.990C>T (p.Asn330=)
|
|
|
NM_001080.3(ALDH5A1):c.1008T>C (p.Thr336=)
|
rs375086516
|
|
NM_001080.3(ALDH5A1):c.1014+12A>G
|
rs2127387325
|
|
NM_001080.3(ALDH5A1):c.1014+7C>G
|
|
|
NM_001080.3(ALDH5A1):c.1015-12T>C
|
|
|
NM_001080.3(ALDH5A1):c.1015-19G>A
|
rs1462649062
|
|
NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)
|
rs779034609
|
|
NM_001080.3(ALDH5A1):c.105C>T (p.Ser35=)
|
|
|
NM_001080.3(ALDH5A1):c.1071A>G (p.Val357=)
|
rs2127387956
|
|
NM_001080.3(ALDH5A1):c.1083C>A (p.Ala361=)
|
rs111525061
|
|
NM_001080.3(ALDH5A1):c.1104G>A (p.Leu368=)
|
|
|
NM_001080.3(ALDH5A1):c.1116T>C (p.Asn372=)
|
|
|
NM_001080.3(ALDH5A1):c.1140G>A (p.Gln380=)
|
rs1759725179
|
|
NM_001080.3(ALDH5A1):c.1164G>A (p.Ala388=)
|
rs553384589
|
|
NM_001080.3(ALDH5A1):c.1164G>C (p.Ala388=)
|
rs553384589
|
|
NM_001080.3(ALDH5A1):c.1164G>T (p.Ala388=)
|
rs553384589
|
|
NM_001080.3(ALDH5A1):c.1173+10T>C
|
|
|
NM_001080.3(ALDH5A1):c.1174-16C>T
|
rs1402795545
|
|
NM_001080.3(ALDH5A1):c.1174-7T>C
|
rs999796055
|
|
NM_001080.3(ALDH5A1):c.1176G>A (p.Val392=)
|
|
|
NM_001080.3(ALDH5A1):c.117C>G (p.Pro39=)
|
rs1261800997
|
|
NM_001080.3(ALDH5A1):c.117C>T (p.Pro39=)
|
rs1261800997
|
|
NM_001080.3(ALDH5A1):c.120C>A (p.Gly40=)
|
|
|
NM_001080.3(ALDH5A1):c.123G>A (p.Pro41=)
|
rs886042931
|
|
NM_001080.3(ALDH5A1):c.1269C>T (p.Thr423=)
|
rs1581824153
|
|
NM_001080.3(ALDH5A1):c.126C>T (p.Ala42=)
|
rs944589315
|
|
NM_001080.3(ALDH5A1):c.1273C>T (p.Leu425=)
|
|
|
NM_001080.3(ALDH5A1):c.12C>T (p.Cys4=)
|
|
|
NM_001080.3(ALDH5A1):c.1308T>C (p.His436=)
|
rs199500997
|
|
NM_001080.3(ALDH5A1):c.1335A>G (p.Pro445=)
|
rs1401944994
|
|
NM_001080.3(ALDH5A1):c.1335A>T (p.Pro445=)
|
|
|
NM_001080.3(ALDH5A1):c.1338T>G (p.Val446=)
|
rs2127389573
|
|
NM_001080.3(ALDH5A1):c.1343+11C>T
|
|
|
NM_001080.3(ALDH5A1):c.1343+15C>T
|
rs2127389592
|
|
NM_001080.3(ALDH5A1):c.1343+19C>T
|
|
|
NM_001080.3(ALDH5A1):c.1343+20G>T
|
|
|
NM_001080.3(ALDH5A1):c.1343+8C>A
|
rs775916984
|
|
NM_001080.3(ALDH5A1):c.1344-4G>A
|
|
|
NM_001080.3(ALDH5A1):c.1344-7T>C
|
|
|
NM_001080.3(ALDH5A1):c.1380C>T (p.Asn460=)
|
rs1191466061
|
|
NM_001080.3(ALDH5A1):c.138C>T (p.Cys46=)
|
rs1248918160
|
|
NM_001080.3(ALDH5A1):c.1398A>G (p.Leu466=)
|
rs1554138222
|
|
NM_001080.3(ALDH5A1):c.1402+13C>T
|
|
|
NM_001080.3(ALDH5A1):c.1403-10C>G
|
|
|
NM_001080.3(ALDH5A1):c.1403-6T>C
|
|
|
NM_001080.3(ALDH5A1):c.1488A>G (p.Leu496=)
|
rs2127391197
|
|
NM_001080.3(ALDH5A1):c.1515T>G (p.Gly505=)
|
rs2127391207
|
|
NM_001080.3(ALDH5A1):c.1518A>T (p.Gly506=)
|
|
|
NM_001080.3(ALDH5A1):c.153G>C (p.Leu51=)
|
|
|
NM_001080.3(ALDH5A1):c.1551C>A (p.Ser517=)
|
|
|
NM_001080.3(ALDH5A1):c.1569G>A (p.Glu523=)
|
rs2127391231
|
|
NM_001080.3(ALDH5A1):c.156G>C (p.Ala52=)
|
|
|
NM_001080.3(ALDH5A1):c.156G>T (p.Ala52=)
|
|
|
NM_001080.3(ALDH5A1):c.1590G>C (p.Val530=)
|
|
|
NM_001080.3(ALDH5A1):c.168G>C (p.Ala56=)
|
rs371548862
|
|
NM_001080.3(ALDH5A1):c.172C>T (p.Leu58=)
|
|
|
NM_001080.3(ALDH5A1):c.180C>T (p.Arg60=)
|
|
|
NM_001080.3(ALDH5A1):c.183C>T (p.Thr61=)
|
|
|
NM_001080.3(ALDH5A1):c.210C>T (p.Leu70=)
|
|
|
NM_001080.3(ALDH5A1):c.216C>T (p.Ala72=)
|
|
|
NM_001080.3(ALDH5A1):c.219C>T (p.Ala73=)
|
|
|
NM_001080.3(ALDH5A1):c.225C>T (p.Thr75=)
|
rs1581800805
|
|
NM_001080.3(ALDH5A1):c.243G>C (p.Pro81=)
|
|
|
NM_001080.3(ALDH5A1):c.24G>C (p.Arg8=)
|
|
|
NM_001080.3(ALDH5A1):c.24G>T (p.Arg8=)
|
rs1427888209
|
|
NM_001080.3(ALDH5A1):c.264C>A (p.Gly88=)
|
rs759932020
|
|
NM_001080.3(ALDH5A1):c.264C>T (p.Gly88=)
|
rs759932020
|
|
NM_001080.3(ALDH5A1):c.270A>T (p.Val90=)
|
rs2127379071
|
|
NM_001080.3(ALDH5A1):c.273C>G (p.Ala91=)
|
rs1206650969
|
|
NM_001080.3(ALDH5A1):c.288A>G (p.Arg96=)
|
rs1554135737
|
|
NM_001080.3(ALDH5A1):c.297C>T (p.Arg99=)
|
rs1764673975
|
|
NM_001080.3(ALDH5A1):c.303C>T (p.Ala101=)
|
rs764445443
|
|
NM_001080.3(ALDH5A1):c.306G>T (p.Val102=)
|
|
|
NM_001080.3(ALDH5A1):c.324T>C (p.Ala108=)
|
|
|
NM_001080.3(ALDH5A1):c.345C>G (p.Val115=)
|
|
|
NM_001080.3(ALDH5A1):c.354+11C>G
|
|
|
NM_001080.3(ALDH5A1):c.354+11C>T
|
|
|
NM_001080.3(ALDH5A1):c.354+13G>T
|
|
|
NM_001080.3(ALDH5A1):c.354+16T>G
|
rs928290089
|
|
NM_001080.3(ALDH5A1):c.354+18C>T
|
|
|
NM_001080.3(ALDH5A1):c.354+19A>G
|
|
|
NM_001080.3(ALDH5A1):c.354+23_354+24dup
|
|
|
NM_001080.3(ALDH5A1):c.354+3GA[2]
|
rs1554135757
|
|
NM_001080.3(ALDH5A1):c.355-16G>A
|
|
|
NM_001080.3(ALDH5A1):c.355-18T>A
|
|
|
NM_001080.3(ALDH5A1):c.355-19C>T
|
|
|
NM_001080.3(ALDH5A1):c.355-20C>T
|
|
|
NM_001080.3(ALDH5A1):c.355-6T>C
|
rs1759214273
|
|
NM_001080.3(ALDH5A1):c.366A>G (p.Ser122=)
|
|
|
NM_001080.3(ALDH5A1):c.367T>C (p.Leu123=)
|
rs1361924610
|
|
NM_001080.3(ALDH5A1):c.375G>A (p.Arg125=)
|
|
|
NM_001080.3(ALDH5A1):c.375G>C (p.Arg125=)
|
|
|
NM_001080.3(ALDH5A1):c.388T>C (p.Leu130=)
|
|
|
NM_001080.3(ALDH5A1):c.396A>T (p.Ile132=)
|
|
|
NM_001080.3(ALDH5A1):c.402T>C (p.Asn134=)
|
rs777804457
|
|
NM_001080.3(ALDH5A1):c.42C>T (p.Arg14=)
|
rs2127378795
|
|
NM_001080.3(ALDH5A1):c.438+11G>A
|
|
|
NM_001080.3(ALDH5A1):c.439-11A>G
|
rs2127382395
|
|
NM_001080.3(ALDH5A1):c.439-13T>C
|
|
|
NM_001080.3(ALDH5A1):c.439-18T>C
|
|
|
NM_001080.3(ALDH5A1):c.474C>G (p.Leu158=)
|
|
|
NM_001080.3(ALDH5A1):c.534T>A (p.Ile178=)
|
rs2127382448
|
|
NM_001080.3(ALDH5A1):c.546G>A (p.Pro182=)
|
rs779987239
|
|
NM_001080.3(ALDH5A1):c.54G>T (p.Thr18=)
|
rs1254730579
|
|
NM_001080.3(ALDH5A1):c.564C>T (p.Ala188=)
|
|
|
NM_001080.3(ALDH5A1):c.565C>T (p.Leu189=)
|
rs1064796918
|
|
NM_001080.3(ALDH5A1):c.567G>C (p.Leu189=)
|
|
|
NM_001080.3(ALDH5A1):c.588C>T (p.Gly196=)
|
rs145208127
|
|
NM_001080.3(ALDH5A1):c.609+15C>T
|
rs1759252599
|
|
NM_001080.3(ALDH5A1):c.609+20A>G
|
rs1759252699
|
|
NM_001080.3(ALDH5A1):c.610-12T>C
|
|
|
NM_001080.3(ALDH5A1):c.610-13C>T
|
|
|
NM_001080.3(ALDH5A1):c.610-4C>G
|
|
|
NM_001080.3(ALDH5A1):c.63C>G (p.Gly21=)
|
|
|
NM_001080.3(ALDH5A1):c.663C>A (p.Ala221=)
|
rs760461822
|
|
NM_001080.3(ALDH5A1):c.678G>A (p.Val226=)
|
rs113591366
|
|
NM_001080.3(ALDH5A1):c.699G>A (p.Thr233=)
|
|
|
NM_001080.3(ALDH5A1):c.702C>T (p.Pro234=)
|
rs934316238
|
|
NM_001080.3(ALDH5A1):c.726+11C>G
|
|
|
NM_001080.3(ALDH5A1):c.726+17G>T
|
|
|
NM_001080.3(ALDH5A1):c.727-15_727-14inv
|
|
|
NM_001080.3(ALDH5A1):c.753A>C (p.Ser251=)
|
|
|
NM_001080.3(ALDH5A1):c.75C>A (p.Arg25=)
|
rs755799999
|
|
NM_001080.3(ALDH5A1):c.768T>C (p.Val256=)
|
|
|
NM_001080.3(ALDH5A1):c.79C>G (p.Arg27Gly)
|
rs779798309
|
|
NM_001080.3(ALDH5A1):c.852T>C (p.Gly284=)
|
|
|
NM_001080.3(ALDH5A1):c.855A>G (p.Ser285=)
|
rs1759548147
|
|
NM_001080.3(ALDH5A1):c.870+15T>C
|
rs2127385913
|
|
NM_001080.3(ALDH5A1):c.870+8A>T
|
|
|
NM_001080.3(ALDH5A1):c.870+9C>T
|
rs1314010241
|
|
NM_001080.3(ALDH5A1):c.871-11T>C
|
|
|
NM_001080.3(ALDH5A1):c.871-19T>C
|
|
|
NM_001080.3(ALDH5A1):c.871-6T>C
|
rs1399527090
|
|
NM_001080.3(ALDH5A1):c.87C>T (p.Gly29=)
|
rs1581800500
|
|
NM_001080.3(ALDH5A1):c.897T>C (p.Ser299=)
|
rs533586467
|
|
NM_001080.3(ALDH5A1):c.921G>C (p.Leu307=)
|
|
|
NM_001080.3(ALDH5A1):c.936A>G (p.Pro312=)
|
|
|
NM_001080.3(ALDH5A1):c.93G>T (p.Leu31=)
|
rs920257954
|
|
NM_001080.3(ALDH5A1):c.966C>T (p.Asp322=)
|
|
|
NM_001127222.2(CACNA1A):c.1014G>A (p.Leu338=)
|
|
|
NM_001127222.2(CACNA1A):c.1026C>G (p.Pro342=)
|
rs1412349338
|
|
NM_001127222.2(CACNA1A):c.1044C>T (p.Ser348=)
|
|
|
NM_001127222.2(CACNA1A):c.1054C>T (p.Leu352=)
|
|
|
NM_001127222.2(CACNA1A):c.1082+17C>T
|
rs992037503
|
|
NM_001127222.2(CACNA1A):c.1082+19C>A
|
|
|
NM_001127222.2(CACNA1A):c.1082+20C>T
|
|
|
NM_001127222.2(CACNA1A):c.1083-12A>G
|
|
|
NM_001127222.2(CACNA1A):c.1083-20G>T
|
|
|
NM_001127222.2(CACNA1A):c.1092C>T (p.Ala364=)
|
|
|
NM_001127222.2(CACNA1A):c.1120C>A (p.Arg374=)
|
rs2145132791
|
|
NM_001127222.2(CACNA1A):c.1122G>A (p.Arg374=)
|
rs2145132777
|
|
NM_001127222.2(CACNA1A):c.1170T>C (p.Asn390=)
|
rs768768744
|
|
NM_001127222.2(CACNA1A):c.1173G>T (p.Gly391=)
|
|
|
NM_001127222.2(CACNA1A):c.1198+15T>C
|
|
|
NM_001127222.2(CACNA1A):c.1198+16C>A
|
rs375761179
|
|
NM_001127222.2(CACNA1A):c.1199-12C>T
|
|
|
NM_001127222.2(CACNA1A):c.1199-17G>A
|
|
|
NM_001127222.2(CACNA1A):c.1212C>T (p.Leu404=)
|
rs540579196
|
|
NM_001127222.2(CACNA1A):c.1215C>G (p.Ala405=)
|
rs1346992540
|
|
NM_001127222.2(CACNA1A):c.1215C>T (p.Ala405=)
|
rs1346992540
|
|
NM_001127222.2(CACNA1A):c.1218G>A (p.Glu406=)
|
|
|
NM_001127222.2(CACNA1A):c.1255+11T>C
|
|
|
NM_001127222.2(CACNA1A):c.1255+9T>C
|
rs759656495
|
|
NM_001127222.2(CACNA1A):c.1256-10A>G
|
|
|
NM_001127222.2(CACNA1A):c.1256-19C>T
|
rs1473736417
|
|
NM_001127222.2(CACNA1A):c.129G>C (p.Gly43=)
|
rs758153051
|
|
NM_001127222.2(CACNA1A):c.1305C>G (p.Pro435=)
|
rs376451601
|
|
NM_001127222.2(CACNA1A):c.1323G>A (p.Gln441=)
|
|
|
NM_001127222.2(CACNA1A):c.1345+12C>T
|
|
|
NM_001127222.2(CACNA1A):c.1345+15C>T
|
|
|
NM_001127222.2(CACNA1A):c.1346-11T>C
|
|
|
NM_001127222.2(CACNA1A):c.1346-7C>G
|
|
|
NM_001127222.2(CACNA1A):c.1346-8C>T
|
|
|
NM_001127222.2(CACNA1A):c.1371T>C (p.Ile457=)
|
rs762652214
|
|
NM_001127222.2(CACNA1A):c.1395G>C (p.Ser465=)
|
|
|
NM_001127222.2(CACNA1A):c.1395G>T (p.Ser465=)
|
rs374307014
|
|
NM_001127222.2(CACNA1A):c.1416G>A (p.Glu472=)
|
rs756358571
|
|
NM_001127222.2(CACNA1A):c.1443C>T (p.Arg481=)
|
rs2058145379
|
|
NM_001127222.2(CACNA1A):c.1452A>G (p.Lys484=)
|
|
|
NM_001127222.2(CACNA1A):c.1461C>T (p.Ala487=)
|
|
|
NM_001127222.2(CACNA1A):c.1472C>T (p.Thr491Ile)
|
|
|
NM_001127222.2(CACNA1A):c.1494C>T (p.Leu498=)
|
|
|
NM_001127222.2(CACNA1A):c.1500G>T (p.Thr500=)
|
rs373192672
|
|
NM_001127222.2(CACNA1A):c.1533C>A (p.Pro511=)
|
rs751539123
|
|
NM_001127222.2(CACNA1A):c.1533C>T (p.Pro511=)
|
rs751539123
|
|
NM_001127222.2(CACNA1A):c.154A>G (p.Met52Val)
|
|
|
NM_001127222.2(CACNA1A):c.1555+15G>A
|
|
|
NM_001127222.2(CACNA1A):c.1555+17C>T
|
|
|
NM_001127222.2(CACNA1A):c.1556-12_1556-10del
|
|
|
NM_001127222.2(CACNA1A):c.1556-4C>G
|
|
|
NM_001127222.2(CACNA1A):c.1556-4C>T
|
rs1455004036
|
|
NM_001127222.2(CACNA1A):c.1556-5T>C
|
|
|
NM_001127222.2(CACNA1A):c.1556-9C>T
|
|
|
NM_001127222.2(CACNA1A):c.1593C>A (p.Ser531=)
|
|
|
NM_001127222.2(CACNA1A):c.159G>A (p.Ala53=)
|
|
|
NM_001127222.2(CACNA1A):c.1602T>C (p.Phe534=)
|
|
|
NM_001127222.2(CACNA1A):c.1605A>T (p.Ile535=)
|
rs1225327012
|
|
NM_001127222.2(CACNA1A):c.1668+13G>C
|
|
|
NM_001127222.2(CACNA1A):c.1669-7G>A
|
|
|
NM_001127222.2(CACNA1A):c.1669-7G>C
|
|
|
NM_001127222.2(CACNA1A):c.1680G>C (p.Gly560=)
|
rs1600293357
|
|
NM_001127222.2(CACNA1A):c.1695C>T (p.Val565=)
|
|
|
NM_001127222.2(CACNA1A):c.1708A>G (p.Ile570Val)
|
|
|
NM_001127222.2(CACNA1A):c.1719C>T (p.Gly573=)
|
|
|
NM_001127222.2(CACNA1A):c.1725C>G (p.Ser575=)
|
|
|
NM_001127222.2(CACNA1A):c.1770C>T (p.Phe590=)
|
rs2145005492
|
|
NM_001127222.2(CACNA1A):c.1779A>G (p.Thr593=)
|
|
|
NM_001127222.2(CACNA1A):c.1781+17C>T
|
|
|
NM_001127222.2(CACNA1A):c.1781+7C>T
|
rs202005119
|
|
NM_001127222.2(CACNA1A):c.1782-14G>C
|
rs2145004534
|
|
NM_001127222.2(CACNA1A):c.1782-17C>T
|
|
|
NM_001127222.2(CACNA1A):c.1782-19G>A
|
rs745683117
|
|
NM_001127222.2(CACNA1A):c.1785C>T (p.Tyr595=)
|
rs2057948502
|
|
NM_001127222.2(CACNA1A):c.1797C>T (p.Leu599=)
|
|
|
NM_001127222.2(CACNA1A):c.180A>C (p.Ala60=)
|
rs2145192414
|
|
NM_001127222.2(CACNA1A):c.1818C>G (p.Leu606=)
|
|
|
NM_001127222.2(CACNA1A):c.1839C>A (p.Ile613=)
|
rs374686479
|
|
NM_001127222.2(CACNA1A):c.1866G>A (p.Leu622=)
|
|
|
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile)
|
rs1346036017
|
|
NM_001127222.2(CACNA1A):c.1884C>A (p.Ala628=)
|
rs2145003982
|
|
NM_001127222.2(CACNA1A):c.1888T>C (p.Leu630=)
|
|
|
NM_001127222.2(CACNA1A):c.1913+10T>A
|
|
|
NM_001127222.2(CACNA1A):c.1913+11C>T
|
|
|
NM_001127222.2(CACNA1A):c.1913+15G>A
|
|
|
NM_001127222.2(CACNA1A):c.1913+16G>T
|
|
|
NM_001127222.2(CACNA1A):c.1914-15G>C
|
|
|
NM_001127222.2(CACNA1A):c.1914-20T>C
|
|
|
NM_001127222.2(CACNA1A):c.1914-5T>C
|
rs2145002415
|
|
NM_001127222.2(CACNA1A):c.1914-7C>T
|
rs2145002450
|
|
NM_001127222.2(CACNA1A):c.1923C>T (p.Phe641=)
|
|
|
NM_001127222.2(CACNA1A):c.1956T>A (p.Thr652=)
|
|
|
NM_001127222.2(CACNA1A):c.1965A>T (p.Ala655=)
|
rs1600291631
|
|
NM_001127222.2(CACNA1A):c.1971A>T (p.Ile657=)
|
rs2145002214
|
|
NM_001127222.2(CACNA1A):c.1977G>T (p.Thr659=)
|
|
|
NM_001127222.2(CACNA1A):c.1986+14C>G
|
|
|
NM_001127222.2(CACNA1A):c.1986+16G>C
|
|
|
NM_001127222.2(CACNA1A):c.1986+19C>A
|
rs2145001986
|
|
NM_001127222.2(CACNA1A):c.1987-12C>A
|
|
|
NM_001127222.2(CACNA1A):c.1987-16C>A
|
rs1057523685
|
|
NM_001127222.2(CACNA1A):c.1987-17T>C
|
rs2144981058
|
|
NM_001127222.2(CACNA1A):c.2016C>T (p.Val672=)
|
|
|
NM_001127222.2(CACNA1A):c.201C>A (p.Val67=)
|
|
|
NM_001127222.2(CACNA1A):c.203G>A (p.Arg68Gln)
|
rs576099495
|
|
NM_001127222.2(CACNA1A):c.2046C>A (p.Gly682=)
|
|
|
NM_001127222.2(CACNA1A):c.209A>G (p.Asn70Ser)
|
rs749526415
|
|
NM_001127222.2(CACNA1A):c.2104+10A>G
|
rs2057840734
|
|
NM_001127222.2(CACNA1A):c.2105-5dup
|
rs2144979466
|
|
NM_001127222.2(CACNA1A):c.2106C>T (p.Tyr702=)
|
|
|
NM_001127222.2(CACNA1A):c.2172+14G>A
|
rs1195908031
|
|
NM_001127222.2(CACNA1A):c.2172+16G>A
|
rs895983254
|
|
NM_001127222.2(CACNA1A):c.2172+7G>C
|
rs1600282994
|
|
NM_001127222.2(CACNA1A):c.2172+7G>T
|
rs1600282994
|
|
NM_001127222.2(CACNA1A):c.2173-11G>T
|
|
|
NM_001127222.2(CACNA1A):c.2173-8C>T
|
|
|
NM_001127222.2(CACNA1A):c.2175C>T (p.Asp725=)
|
|
|
NM_001127222.2(CACNA1A):c.2187A>G (p.Glu729=)
|
rs2144964768
|
|
NM_001127222.2(CACNA1A):c.219G>A (p.Thr73=)
|
|
|
NM_001127222.2(CACNA1A):c.2232G>A (p.Glu744=)
|
rs2144964550
|
|
NM_001127222.2(CACNA1A):c.2256C>A (p.Ser752=)
|
|
|
NM_001127222.2(CACNA1A):c.2256C>G (p.Ser752=)
|
rs764816582
|
|
NM_001127222.2(CACNA1A):c.2279+12T>G
|
|
|
NM_001127222.2(CACNA1A):c.2280-12A>G
|
|
|
NM_001127222.2(CACNA1A):c.2280-17dup
|
rs2144958686
|
|
NM_001127222.2(CACNA1A):c.2337T>C (p.Ser779=)
|
rs1555756457
|
|
NM_001127222.2(CACNA1A):c.234C>T (p.Leu78=)
|
rs1982990940
|
|
NM_001127222.2(CACNA1A):c.2381A>T (p.Tyr794Phe)
|
rs1374890716
|
|
NM_001127222.2(CACNA1A):c.2382T>C (p.Tyr794=)
|
rs1299468325
|
|
NM_001127222.2(CACNA1A):c.2400C>T (p.Asp800=)
|
rs376074188
|
|
NM_001127222.2(CACNA1A):c.240C>T (p.Leu80=)
|
|
|
NM_001127222.2(CACNA1A):c.2418C>T (p.Ala806=)
|
|
|
NM_001127222.2(CACNA1A):c.2439A>G (p.Pro813=)
|
rs2144957398
|
|
NM_001127222.2(CACNA1A):c.2440G>A (p.Asp814Asn)
|
|
|
NM_001127222.2(CACNA1A):c.2443A>G (p.Met815Val)
|
|
|
NM_001127222.2(CACNA1A):c.2451G>A (p.Thr817=)
|
rs201998077
|
|
NM_001127222.2(CACNA1A):c.2472G>A (p.Val824=)
|
|
|
NM_001127222.2(CACNA1A):c.2485G>A (p.Glu829Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2523C>T (p.Ala841=)
|
|
|
NM_001127222.2(CACNA1A):c.2548G>A (p.Gly850Ser)
|
|
|
NM_001127222.2(CACNA1A):c.254A>G (p.Asn85Ser)
|
rs746902081
|
|
NM_001127222.2(CACNA1A):c.2559C>T (p.Arg853=)
|
|
|
NM_001127222.2(CACNA1A):c.2568C>T (p.Asp856=)
|
rs2144956514
|
|
NM_001127222.2(CACNA1A):c.2580A>G (p.Lys860=)
|
|
|
NM_001127222.2(CACNA1A):c.2586C>G (p.Ala862=)
|
rs1390932807
|
|
NM_001127222.2(CACNA1A):c.2592C>T (p.Tyr864=)
|
rs1463277441
|
|
NM_001127222.2(CACNA1A):c.2594A>T (p.His865Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2600G>C (p.Arg867Pro)
|
rs754326939
|
|
NM_001127222.2(CACNA1A):c.2613C>T (p.Pro871=)
|
|
|
NM_001127222.2(CACNA1A):c.2627G>A (p.Gly876Asp)
|
|
|
NM_001127222.2(CACNA1A):c.2640G>C (p.Arg880=)
|
rs759401764
|
|
NM_001127222.2(CACNA1A):c.2667C>T (p.Ala889=)
|
|
|
NM_001127222.2(CACNA1A):c.2671C>T (p.Leu891=)
|
rs1205064338
|
|
NM_001127222.2(CACNA1A):c.2685A>T (p.Gly895=)
|
|
|
NM_001127222.2(CACNA1A):c.2687C>T (p.Pro896Leu)
|
rs121908242
|
|
NM_001127222.2(CACNA1A):c.2694C>T (p.Gly898=)
|
|
|
NM_001127222.2(CACNA1A):c.2697C>G (p.Arg899=)
|
|
|
NM_001127222.2(CACNA1A):c.2702C>G (p.Ser901Trp)
|
|
|
NM_001127222.2(CACNA1A):c.2706C>T (p.Asp902=)
|
rs1446752227
|
|
NM_001127222.2(CACNA1A):c.2730G>A (p.Leu910=)
|
rs987547951
|
|
NM_001127222.2(CACNA1A):c.2739C>G (p.Pro913=)
|
rs16021
|
|
NM_001127222.2(CACNA1A):c.2742G>A (p.Gly914=)
|
rs2144955190
|
|
NM_001127222.2(CACNA1A):c.2778G>A (p.Gly926=)
|
rs1035531839
|
|
NM_001127222.2(CACNA1A):c.2784C>G (p.Pro928=)
|
rs2144954801
|
|
NM_001127222.2(CACNA1A):c.2787C>T (p.His929=)
|
rs1555756078
|
|
NM_001127222.2(CACNA1A):c.2796C>T (p.His932=)
|
rs772941423
|
|
NM_001127222.2(CACNA1A):c.2805G>A (p.Arg935=)
|
|
|
NM_001127222.2(CACNA1A):c.2805G>T (p.Arg935=)
|
rs1002026253
|
|
NM_001127222.2(CACNA1A):c.2813G>T (p.Gly938Val)
|
rs747413278
|
|
NM_001127222.2(CACNA1A):c.2820G>A (p.Arg940=)
|
|
|
NM_001127222.2(CACNA1A):c.2840C>T (p.Pro947Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2850C>T (p.Gly950=)
|
rs2144954181
|
|
NM_001127222.2(CACNA1A):c.2859G>A (p.Gly953=)
|
|
|
NM_001127222.2(CACNA1A):c.2865T>G (p.His955Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2866C>A (p.Arg956=)
|
rs1245624754
|
|
NM_001127222.2(CACNA1A):c.2873A>G (p.His958Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2880G>T (p.Ala960=)
|
rs1600272032
|
|
NM_001127222.2(CACNA1A):c.2886C>T (p.Arg962=)
|
rs1443085599
|
|
NM_001127222.2(CACNA1A):c.2887A>C (p.Arg963=)
|
rs1555755942
|
|
NM_001127222.2(CACNA1A):c.2892C>T (p.Pro964=)
|
rs771351347
|
|
NM_001127222.2(CACNA1A):c.2895G>A (p.Gly965=)
|
rs1057522107
|
|
NM_001127222.2(CACNA1A):c.2898G>A (p.Glu966=)
|
|
|
NM_001127222.2(CACNA1A):c.2904T>G (p.Gly968=)
|
|
|
NM_001127222.2(CACNA1A):c.2922G>A (p.Glu974=)
|
rs1361813971
|
|
NM_001127222.2(CACNA1A):c.2937C>T (p.His979=)
|
rs1600271774
|
|
NM_001127222.2(CACNA1A):c.294-15T>A
|
rs1329913453
|
|
NM_001127222.2(CACNA1A):c.294-6C>A
|
rs764502828
|
|
NM_001127222.2(CACNA1A):c.2950C>G (p.Arg984Gly)
|
|
|
NM_001127222.2(CACNA1A):c.2952G>C (p.Arg984=)
|
|
|
NM_001127222.2(CACNA1A):c.2955G>A (p.Pro985=)
|
rs749357610
|
|
NM_001127222.2(CACNA1A):c.2960G>C (p.Arg987Pro)
|
rs955869211
|
|
NM_001127222.2(CACNA1A):c.2962G>A (p.Gly988Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.2973C>G (p.Gly991=)
|
|
|
NM_001127222.2(CACNA1A):c.2985C>A (p.Gly995=)
|
rs1051973
|
|
NM_001127222.2(CACNA1A):c.2991C>T (p.Asp997=)
|
|
|
NM_001127222.2(CACNA1A):c.2994G>A (p.Gly998=)
|
|
|
NM_001127222.2(CACNA1A):c.2997C>T (p.Gly999=)
|
|
|
NM_001127222.2(CACNA1A):c.3003C>T (p.Arg1001=)
|
|
|
NM_001127222.2(CACNA1A):c.3012G>A (p.Arg1004=)
|
|
|
NM_001127222.2(CACNA1A):c.3017G>A (p.Arg1006Gln)
|
rs1268938831
|
|
NM_001127222.2(CACNA1A):c.3018G>A (p.Arg1006=)
|
|
|
NM_001127222.2(CACNA1A):c.3033C>T (p.Ala1011=)
|
rs2144952263
|
|
NM_001127222.2(CACNA1A):c.3035C>T (p.Thr1012Met)
|
rs573941336
|
|
NM_001127222.2(CACNA1A):c.3036G>A (p.Thr1012=)
|
rs1302148060
|
|
NM_001127222.2(CACNA1A):c.3036G>C (p.Thr1012=)
|
|
|
NM_001127222.2(CACNA1A):c.3051G>A (p.Ala1017=)
|
rs2057719000
|
|
NM_001127222.2(CACNA1A):c.3070C>A (p.Arg1024=)
|
rs1180851544
|
|
NM_001127222.2(CACNA1A):c.3089+10G>A
|
|
|
NM_001127222.2(CACNA1A):c.3089+15C>T
|
|
|
NM_001127222.2(CACNA1A):c.3089+18C>G
|
|
|
NM_001127222.2(CACNA1A):c.3089+18C>T
|
|
|
NM_001127222.2(CACNA1A):c.3090-10C>T
|
|
|
NM_001127222.2(CACNA1A):c.3090-5C>T
|
rs976595665
|
|
NM_001127222.2(CACNA1A):c.3108G>T (p.Gly1036=)
|
|
|
NM_001127222.2(CACNA1A):c.3117G>A (p.Val1039=)
|
rs745981005
|
|
NM_001127222.2(CACNA1A):c.3144G>A (p.Arg1048=)
|
|
|
NM_001127222.2(CACNA1A):c.3168C>G (p.Arg1056=)
|
|
|
NM_001127222.2(CACNA1A):c.3174C>G (p.Asp1058Glu)
|
|
|
NM_001127222.2(CACNA1A):c.3195T>C (p.Ile1065=)
|
rs1480156688
|
|
NM_001127222.2(CACNA1A):c.3213C>T (p.Asn1071=)
|
|
|
NM_001127222.2(CACNA1A):c.3225C>T (p.Thr1075=)
|
|
|
NM_001127222.2(CACNA1A):c.3243C>G (p.Pro1081=)
|
rs749854221
|
|
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser)
|
rs201311000
|
|
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys)
|
rs201311000
|
|
NM_001127222.2(CACNA1A):c.3267C>T (p.Gly1089=)
|
|
|
NM_001127222.2(CACNA1A):c.3288G>A (p.Lys1096=)
|
rs1555752995
|
|
NM_001127222.2(CACNA1A):c.330G>T (p.Ala110=)
|
rs375486960
|
|
NM_001127222.2(CACNA1A):c.3315C>T (p.Pro1105=)
|
|
|
NM_001127222.2(CACNA1A):c.3330T>G (p.Pro1110=)
|
|
|
NM_001127222.2(CACNA1A):c.3345C>T (p.Asn1115=)
|
rs752384911
|
|
NM_001127222.2(CACNA1A):c.3358G>A (p.Ala1120Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3365G>T (p.Arg1122Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3367C>T (p.Arg1123Trp)
|
rs775079497
|
|
NM_001127222.2(CACNA1A):c.3369G>A (p.Arg1123=)
|
|
|
NM_001127222.2(CACNA1A):c.3405C>A (p.Gly1135=)
|
rs751649216
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
NM_001127222.2(CACNA1A):c.3410C>T (p.Pro1137Leu)
|
rs200333359
|
|
NM_001127222.2(CACNA1A):c.3411C>A (p.Pro1137=)
|
|
|
NM_001127222.2(CACNA1A):c.3411C>T (p.Pro1137=)
|
rs770525318
|
|
NM_001127222.2(CACNA1A):c.3414G>A (p.Lys1138=)
|
rs1600245661
|
|
NM_001127222.2(CACNA1A):c.3415A>T (p.Thr1139Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3444C>T (p.Asn1148=)
|
|
|
NM_001127222.2(CACNA1A):c.3451G>A (p.Gly1151Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3453C>G (p.Gly1151=)
|
|
|
NM_001127222.2(CACNA1A):c.3464A>G (p.Asn1155Ser)
|
rs992828062
|
|
NM_001127222.2(CACNA1A):c.3489C>G (p.Pro1163=)
|
rs771567638
|
|
NM_001127222.2(CACNA1A):c.348A>T (p.Ala116=)
|
rs2060983904
|
|
NM_001127222.2(CACNA1A):c.3495C>T (p.His1165=)
|
rs1436962839
|
|
NM_001127222.2(CACNA1A):c.3510C>T (p.Ile1170=)
|
|
|
NM_001127222.2(CACNA1A):c.3513C>T (p.Pro1171=)
|
|
|
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)
|
rs886044439
|
|
NM_001127222.2(CACNA1A):c.3528C>A (p.Pro1176=)
|
rs2057403294
|
|
NM_001127222.2(CACNA1A):c.3530C>A (p.Pro1177His)
|
|
|
NM_001127222.2(CACNA1A):c.3530C>G (p.Pro1177Arg)
|
rs201789073
|
|
NM_001127222.2(CACNA1A):c.3530C>T (p.Pro1177Leu)
|
rs201789073
|
|
NM_001127222.2(CACNA1A):c.3531C>T (p.Pro1177=)
|
rs184723350
|
|
NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile)
|
rs556266465
|
|
NM_001127222.2(CACNA1A):c.3532C>G (p.Leu1178Val)
|
rs556266465
|
|
NM_001127222.2(CACNA1A):c.3553+16C>T
|
|
|
NM_001127222.2(CACNA1A):c.3553+18C>A
|
|
|
NM_001127222.2(CACNA1A):c.3553+19A>T
|
|
|
NM_001127222.2(CACNA1A):c.3554-17G>T
|
|
|
NM_001127222.2(CACNA1A):c.3574G>A (p.Asp1192Asn)
|
rs773649403
|
|
NM_001127222.2(CACNA1A):c.357G>A (p.Gln119=)
|
rs1568661972
|
|
NM_001127222.2(CACNA1A):c.3591A>G (p.Lys1197=)
|
|
|
NM_001127222.2(CACNA1A):c.3599A>G (p.Glu1200Gly)
|
rs2057373105
|
|
NM_001127222.2(CACNA1A):c.3626G>A (p.Arg1209His)
|
rs374286965
|
|
NM_001127222.2(CACNA1A):c.3626G>T (p.Arg1209Leu)
|
rs374286965
|
|
NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser)
|
rs767000559
|
|
NM_001127222.2(CACNA1A):c.3650T>C (p.Met1217Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3666C>T (p.Ser1222=)
|
rs1600242610
|
|
NM_001127222.2(CACNA1A):c.3684G>C (p.Thr1228=)
|
|
|
NM_001127222.2(CACNA1A):c.3685A>G (p.Thr1229Ala)
|
|
|
NM_001127222.2(CACNA1A):c.3692+7A>G
|
|
|
NM_001127222.2(CACNA1A):c.3693-20C>A
|
|
|
NM_001127222.2(CACNA1A):c.3702C>T (p.Arg1234=)
|
rs2144871814
|
|
NM_001127222.2(CACNA1A):c.3705G>A (p.Leu1235=)
|
|
|
NM_001127222.2(CACNA1A):c.3756C>T (p.Val1252=)
|
|
|
NM_001127222.2(CACNA1A):c.3771C>T (p.Ser1257=)
|
rs1600238829
|
|
NM_001127222.2(CACNA1A):c.3798G>A (p.Val1266=)
|
|
|
NM_001127222.2(CACNA1A):c.3822+15G>C
|
rs2144871142
|
|
NM_001127222.2(CACNA1A):c.3822+20C>A
|
rs1056191725
|
|
NM_001127222.2(CACNA1A):c.3822+9C>T
|
|
|
NM_001127222.2(CACNA1A):c.3823-16C>T
|
|
|
NM_001127222.2(CACNA1A):c.3823-4A>G
|
|
|
NM_001127222.2(CACNA1A):c.3825G>A (p.Val1275=)
|
|
|
NM_001127222.2(CACNA1A):c.3844G>A (p.Val1282Ile)
|
|
|
NM_001127222.2(CACNA1A):c.384G>A (p.Pro128=)
|
|
|
NM_001127222.2(CACNA1A):c.384G>T (p.Pro128=)
|
|
|
NM_001127222.2(CACNA1A):c.3855C>T (p.Gly1285=)
|
|
|
NM_001127222.2(CACNA1A):c.3882+15T>G
|
|
|
NM_001127222.2(CACNA1A):c.3883-12T>C
|
|
|
NM_001127222.2(CACNA1A):c.3883-13T>C
|
rs2057137391
|
|
NM_001127222.2(CACNA1A):c.3883-14C>T
|
|
|
NM_001127222.2(CACNA1A):c.3883-16C>T
|
|
|
NM_001127222.2(CACNA1A):c.3883-5C>A
|
rs748652953
|
|
NM_001127222.2(CACNA1A):c.3883-5C>G
|
rs748652953
|
|
NM_001127222.2(CACNA1A):c.3883-6C>T
|
rs1600224734
|
|
NM_001127222.2(CACNA1A):c.3970C>T (p.Leu1324=)
|
|
|
NM_001127222.2(CACNA1A):c.3978C>T (p.Ala1326=)
|
|
|
NM_001127222.2(CACNA1A):c.3984C>T (p.Ala1328=)
|
rs2144833248
|
|
NM_001127222.2(CACNA1A):c.3989+10C>T
|
rs1600224597
|
|
NM_001127222.2(CACNA1A):c.3989+13G>A
|
rs373480312
|
|
NM_001127222.2(CACNA1A):c.3989+19G>A
|
|
|
NM_001127222.2(CACNA1A):c.3989+9C>T
|
|
|
NM_001127222.2(CACNA1A):c.399+15T>C
|
rs1395412975
|
|
NM_001127222.2(CACNA1A):c.3990-16A>G
|
rs2144773270
|
|
NM_001127222.2(CACNA1A):c.3990-18C>T
|
|
|
NM_001127222.2(CACNA1A):c.3990-20A>G
|
|
|
NM_001127222.2(CACNA1A):c.3990-4A>T
|
|
|
NM_001127222.2(CACNA1A):c.3990-9C>A
|
|
|
NM_001127222.2(CACNA1A):c.400-13C>G
|
|
|
NM_001127222.2(CACNA1A):c.400-14T>A
|
rs779677432
|
|
NM_001127222.2(CACNA1A):c.400-15T>G
|
|
|
NM_001127222.2(CACNA1A):c.400-16C>T
|
|
|
NM_001127222.2(CACNA1A):c.400-18G>T
|
rs2060943702
|
|
NM_001127222.2(CACNA1A):c.400-4C>T
|
|
|
NM_001127222.2(CACNA1A):c.4014C>T (p.Ile1338=)
|
|
|
NM_001127222.2(CACNA1A):c.4020G>A (p.Thr1340=)
|
|
|
NM_001127222.2(CACNA1A):c.4032C>G (p.Leu1344=)
|
|
|
NM_001127222.2(CACNA1A):c.4050A>T (p.Leu1350=)
|
|
|
NM_001127222.2(CACNA1A):c.4083G>A (p.Lys1361=)
|
|
|
NM_001127222.2(CACNA1A):c.4089+12A>C
|
|
|
NM_001127222.2(CACNA1A):c.4089+15T>C
|
|
|
NM_001127222.2(CACNA1A):c.4089+18T>C
|
|
|
NM_001127222.2(CACNA1A):c.4089+19G>A
|
|
|
NM_001127222.2(CACNA1A):c.4089+5_4089+6del
|
rs368911651
|
|
NM_001127222.2(CACNA1A):c.4090-24CT[2]
|
|
|
NM_001127222.2(CACNA1A):c.4090-4A>G
|
rs2144767685
|
|
NM_001127222.2(CACNA1A):c.411A>G (p.Glu137=)
|
rs148002271
|
|
NM_001127222.2(CACNA1A):c.4179G>A (p.Val1393=)
|
|
|
NM_001127222.2(CACNA1A):c.4197G>A (p.Lys1399=)
|
rs1475353262
|
|
NM_001127222.2(CACNA1A):c.4250+10C>T
|
rs1340165763
|
|
NM_001127222.2(CACNA1A):c.4250+11A>G
|
|
|
NM_001127222.2(CACNA1A):c.4250+15T>C
|
rs774357662
|
|
NM_001127222.2(CACNA1A):c.4250+15T>G
|
|
|
NM_001127222.2(CACNA1A):c.4250+16C>G
|
|
|
NM_001127222.2(CACNA1A):c.4250+19G>A
|
|
|
NM_001127222.2(CACNA1A):c.4251-17C>T
|
|
|
NM_001127222.2(CACNA1A):c.4263C>A (p.Leu1421=)
|
|
|
NM_001127222.2(CACNA1A):c.4266C>A (p.Leu1422=)
|
|
|
NM_001127222.2(CACNA1A):c.4278T>C (p.Asn1426=)
|
|
|
NM_001127222.2(CACNA1A):c.4289C>T (p.Ala1430Val)
|
|
|
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=)
|
rs555959123
|
|
NM_001127222.2(CACNA1A):c.4297C>A (p.Arg1433=)
|
rs1275025158
|
|
NM_001127222.2(CACNA1A):c.4314T>C (p.Tyr1438=)
|
|
|
NM_001127222.2(CACNA1A):c.4326C>T (p.Tyr1442=)
|
|
|
NM_001127222.2(CACNA1A):c.4345C>A (p.Leu1449Met)
|
|
|
NM_001127222.2(CACNA1A):c.4365G>T (p.Val1455=)
|
rs2144758200
|
|
NM_001127222.2(CACNA1A):c.4388+11C>T
|
|
|
NM_001127222.2(CACNA1A):c.4388+13A>G
|
|
|
NM_001127222.2(CACNA1A):c.4388+16G>A
|
|
|
NM_001127222.2(CACNA1A):c.4389-19C>A
|
|
|
NM_001127222.2(CACNA1A):c.4389-28_4389-12dup
|
|
|
NM_001127222.2(CACNA1A):c.4389-5T>C
|
rs896214992
|
|
NM_001127222.2(CACNA1A):c.4392C>A (p.Val1464=)
|
rs1458275517
|
|
NM_001127222.2(CACNA1A):c.4398G>A (p.Lys1466=)
|
rs1555743957
|
|
NM_001127222.2(CACNA1A):c.4434C>T (p.Pro1478=)
|
|
|
NM_001127222.2(CACNA1A):c.4443G>A (p.Gly1481=)
|
rs750865024
|
|
NM_001127222.2(CACNA1A):c.4461C>G (p.Ser1487=)
|
|
|
NM_001127222.2(CACNA1A):c.4473C>T (p.Val1491=)
|
|
|
NM_001127222.2(CACNA1A):c.4500C>T (p.Phe1500=)
|
rs2144748402
|
|
NM_001127222.2(CACNA1A):c.4521C>T (p.Ala1507=)
|
|
|
NM_001127222.2(CACNA1A):c.4590+13A>C
|
|
|
NM_001127222.2(CACNA1A):c.4590+19T>C
|
|
|
NM_001127222.2(CACNA1A):c.4591-12TC[2]
|
|
|
NM_001127222.2(CACNA1A):c.4591-14C>G
|
|
|
NM_001127222.2(CACNA1A):c.4591-17T>C
|
|
|
NM_001127222.2(CACNA1A):c.4591-18C>G
|
|
|
NM_001127222.2(CACNA1A):c.4591-5del
|
rs2056515046
|
|
NM_001127222.2(CACNA1A):c.4647G>A (p.Gln1549=)
|
rs2144735110
|
|
NM_001127222.2(CACNA1A):c.4701C>T (p.Phe1567=)
|
|
|
NM_001127222.2(CACNA1A):c.4710G>T (p.Thr1570=)
|
rs761547761
|
|
NM_001127222.2(CACNA1A):c.4740C>T (p.Ile1580=)
|
rs1415212677
|
|
NM_001127222.2(CACNA1A):c.4755+20C>T
|
|
|
NM_001127222.2(CACNA1A):c.4756-12T>G
|
|
|
NM_001127222.2(CACNA1A):c.4756-15G>A
|
|
|
NM_001127222.2(CACNA1A):c.4756-4del
|
rs752161961
|
|
NM_001127222.2(CACNA1A):c.4756-7C>T
|
|
|
NM_001127222.2(CACNA1A):c.4791G>A (p.Leu1597=)
|
rs2144726178
|
|
NM_001127222.2(CACNA1A):c.4797G>A (p.Val1599=)
|
|
|
NM_001127222.2(CACNA1A):c.480C>T (p.His160=)
|
|
|
NM_001127222.2(CACNA1A):c.4836T>C (p.Cys1612=)
|
rs781413708
|
|
NM_001127222.2(CACNA1A):c.4860G>A (p.Gly1620=)
|
rs2144725963
|
|
NM_001127222.2(CACNA1A):c.4866+11C>T
|
|
|
NM_001127222.2(CACNA1A):c.4866+18G>T
|
|
|
NM_001127222.2(CACNA1A):c.4866+19C>G
|
|
|
NM_001127222.2(CACNA1A):c.4867-11C>A
|
|
|
NM_001127222.2(CACNA1A):c.4867-13G>T
|
|
|
NM_001127222.2(CACNA1A):c.4867-18T>C
|
rs2144692214
|
|
NM_001127222.2(CACNA1A):c.4867-7A>C
|
|
|
NM_001127222.2(CACNA1A):c.4867-8C>T
|
rs1057522362
|
|
NM_001127222.2(CACNA1A):c.4878C>T (p.Arg1626=)
|
|
|
NM_001127222.2(CACNA1A):c.4881T>C (p.Asp1627=)
|
rs558064032
|
|
NM_001127222.2(CACNA1A):c.4902T>C (p.Phe1634=)
|
|
|
NM_001127222.2(CACNA1A):c.4908T>C (p.Thr1636=)
|
|
|
NM_001127222.2(CACNA1A):c.4917C>T (p.Gly1639=)
|
|
|
NM_001127222.2(CACNA1A):c.492C>T (p.Tyr164=)
|
|
|
NM_001127222.2(CACNA1A):c.4938G>T (p.Val1646=)
|
|
|
NM_001127222.2(CACNA1A):c.493T>C (p.Leu165=)
|
rs2144936227
|
|
NM_001127222.2(CACNA1A):c.4950+12T>C
|
|
|
NM_001127222.2(CACNA1A):c.4950+15A>G
|
rs755685706
|
|
NM_001127222.2(CACNA1A):c.4950+16G>T
|
|
|
NM_001127222.2(CACNA1A):c.4950+20C>T
|
|
|
NM_001127222.2(CACNA1A):c.4951-10A>C
|
rs2055852187
|
|
NM_001127222.2(CACNA1A):c.4951-3del
|
rs1600140005
|
|
NM_001127222.2(CACNA1A):c.4998G>T (p.Arg1666=)
|
|
|
NM_001127222.2(CACNA1A):c.5001C>T (p.Leu1667=)
|
rs755424786
|
|
NM_001127222.2(CACNA1A):c.5067+10C>G
|
rs549805937
|
|
NM_001127222.2(CACNA1A):c.5067+20G>C
|
|
|
NM_001127222.2(CACNA1A):c.5068-10T>C
|
|
|
NM_001127222.2(CACNA1A):c.5068-19T>C
|
|
|
NM_001127222.2(CACNA1A):c.5068-6dup
|
|
|
NM_001127222.2(CACNA1A):c.5079T>C (p.Tyr1693=)
|
|
|
NM_001127222.2(CACNA1A):c.5106C>T (p.Phe1702=)
|
|
|
NM_001127222.2(CACNA1A):c.5112C>T (p.Ile1704=)
|
rs1057521708
|
|
NM_001127222.2(CACNA1A):c.5118C>T (p.Ala1706=)
|
rs2144647886
|
|
NM_001127222.2(CACNA1A):c.5127G>A (p.Gly1709=)
|
|
|
NM_001127222.2(CACNA1A):c.5133+9C>T
|
|
|
NM_001127222.2(CACNA1A):c.5163G>A (p.Glu1721=)
|
rs776192705
|
|
NM_001127222.2(CACNA1A):c.5188T>C (p.Phe1730Leu)
|
|
|
NM_001127222.2(CACNA1A):c.522T>C (p.Phe174=)
|
|
|
NM_001127222.2(CACNA1A):c.5249+13C>A
|
|
|
NM_001127222.2(CACNA1A):c.5249+14C>T
|
|
|
NM_001127222.2(CACNA1A):c.5249+19C>T
|
|
|
NM_001127222.2(CACNA1A):c.5249+7A>C
|
rs1600138314
|
|
NM_001127222.2(CACNA1A):c.525G>C (p.Val175=)
|
rs1231813346
|
|
NM_001127222.2(CACNA1A):c.5262G>A (p.Gly1754=)
|
|
|
NM_001127222.2(CACNA1A):c.5306C>T (p.Pro1769Leu)
|
|
|
NM_001127222.2(CACNA1A):c.5307G>A (p.Pro1769=)
|
|
|
NM_001127222.2(CACNA1A):c.537G>A (p.Thr179=)
|
|
|
NM_001127222.2(CACNA1A):c.539+12G>C
|
|
|
NM_001127222.2(CACNA1A):c.539+14G>A
|
rs1057523199
|
|
NM_001127222.2(CACNA1A):c.539+18T>A
|
|
|
NM_001127222.2(CACNA1A):c.539+8G>A
|
rs372925573
|
|
NM_001127222.2(CACNA1A):c.539+9C>A
|
rs369146237
|
|
NM_001127222.2(CACNA1A):c.540-13T>C
|
|
|
NM_001127222.2(CACNA1A):c.540-6_540-3del
|
|
|
NM_001127222.2(CACNA1A):c.5400+17T>C
|
|
|
NM_001127222.2(CACNA1A):c.5401-10G>T
|
rs370129945
|
|
NM_001127222.2(CACNA1A):c.5401-18T>C
|
|
|
NM_001127222.2(CACNA1A):c.5460C>T (p.Ser1820=)
|
|
|
NM_001127222.2(CACNA1A):c.5472C>A (p.Gly1824=)
|
rs1804930573
|
|
NM_001127222.2(CACNA1A):c.547G>A (p.Ala183Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5511G>C (p.Glu1837Asp)
|
rs1348448383
|
|
NM_001127222.2(CACNA1A):c.5528+1270C>A
|
|
|
NM_001127222.2(CACNA1A):c.5528+12C>T
|
|
|
NM_001127222.2(CACNA1A):c.5528+15C>A
|
|
|
NM_001127222.2(CACNA1A):c.5528+17A>C
|
|
|
NM_001127222.2(CACNA1A):c.5529-1152C>T
|
rs1425881157
|
|
NM_001127222.2(CACNA1A):c.5529-1153C>T
|
rs1600124141
|
|
NM_001127222.2(CACNA1A):c.5529-1187T>C
|
rs201292159
|
|
NM_001127222.2(CACNA1A):c.5529-1211C>T
|
rs1266486228
|
|
NM_001127222.2(CACNA1A):c.5529-1217C>T
|
|
|
NM_001127222.2(CACNA1A):c.5529-1262G>T
|
rs1600124326
|
|
NM_001127222.2(CACNA1A):c.5529-1264C>T
|
|
|
NM_001127222.2(CACNA1A):c.5529-1272T>G
|
rs2144616954
|
|
NM_001127222.2(CACNA1A):c.5529-1276_5529-1274del
|
rs1436224214
|
|
NM_001127222.2(CACNA1A):c.5529-1277T>C
|
|
|
NM_001127222.2(CACNA1A):c.5626-11G>T
|
rs2055373094
|
|
NM_001127222.2(CACNA1A):c.5626-12G>T
|
|
|
NM_001127222.2(CACNA1A):c.5626-5T>C
|
|
|
NM_001127222.2(CACNA1A):c.5636G>A (p.Arg1879Gln)
|
rs1010331313
|
|
NM_001127222.2(CACNA1A):c.5644C>T (p.Leu1882=)
|
|
|
NM_001127222.2(CACNA1A):c.5649C>T (p.Pro1883=)
|
|
|
NM_001127222.2(CACNA1A):c.5667C>T (p.Thr1889=)
|
rs750667873
|
|
NM_001127222.2(CACNA1A):c.5678A>G (p.Asn1893Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)
|
rs757291476
|
|
NM_001127222.2(CACNA1A):c.5703C>A (p.Arg1901=)
|
rs1600114408
|
|
NM_001127222.2(CACNA1A):c.5703C>T (p.Arg1901=)
|
|
|
NM_001127222.2(CACNA1A):c.5731+11G>A
|
|
|
NM_001127222.2(CACNA1A):c.5731+18G>A
|
|
|
NM_001127222.2(CACNA1A):c.5732-11C>T
|
|
|
NM_001127222.2(CACNA1A):c.5732-12C>A
|
|
|
NM_001127222.2(CACNA1A):c.5732-19G>A
|
|
|
NM_001127222.2(CACNA1A):c.5732-7A>G
|
|
|
NM_001127222.2(CACNA1A):c.5732-9C>T
|
|
|
NM_001127222.2(CACNA1A):c.5733A>G (p.Gly1911=)
|
rs758357771
|
|
NM_001127222.2(CACNA1A):c.5733A>T (p.Gly1911=)
|
|
|
NM_001127222.2(CACNA1A):c.5741A>G (p.Asp1914Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5775G>A (p.Glu1925=)
|
rs2144537672
|
|
NM_001127222.2(CACNA1A):c.5814A>T (p.Leu1938=)
|
rs1001682236
|
|
NM_001127222.2(CACNA1A):c.5821C>T (p.Leu1941=)
|
rs2144537393
|
|
NM_001127222.2(CACNA1A):c.5839+20C>T
|
rs2144537107
|
|
NM_001127222.2(CACNA1A):c.5839+7G>A
|
rs1568426023
|
|
NM_001127222.2(CACNA1A):c.5839+9T>G
|
|
|
NM_001127222.2(CACNA1A):c.5840-12G>T
|
|
|
NM_001127222.2(CACNA1A):c.5840-17C>A
|
rs556502230
|
|
NM_001127222.2(CACNA1A):c.5840-17C>T
|
rs556502230
|
|
NM_001127222.2(CACNA1A):c.5840-19A>G
|
|
|
NM_001127222.2(CACNA1A):c.5840-8G>A
|
rs2054921364
|
|
NM_001127222.2(CACNA1A):c.5865C>A (p.Ile1955=)
|
|
|
NM_001127222.2(CACNA1A):c.5874C>T (p.Ala1958=)
|
rs2054919743
|
|
NM_001127222.2(CACNA1A):c.588A>G (p.Ala196=)
|
rs1301991287
|
|
NM_001127222.2(CACNA1A):c.5896C>T (p.Arg1966Trp)
|
rs1269205597
|
|
NM_001127222.2(CACNA1A):c.5904C>T (p.Ser1968=)
|
rs761152800
|
|
NM_001127222.2(CACNA1A):c.5907G>A (p.Lys1969=)
|
rs1364247722
|
|
NM_001127222.2(CACNA1A):c.5913G>A (p.Lys1971=)
|
rs990134708
|
|
NM_001127222.2(CACNA1A):c.5929C>T (p.Arg1977Cys)
|
|
|
NM_001127222.2(CACNA1A):c.5940+15G>A
|
rs370364972
|
|
NM_001127222.2(CACNA1A):c.5940+15G>C
|
rs370364972
|
|
NM_001127222.2(CACNA1A):c.5940+18C>G
|
rs1057522421
|
|
NM_001127222.2(CACNA1A):c.5940+8G>C
|
|
|
NM_001127222.2(CACNA1A):c.5941-10C>A
|
|
|
NM_001127222.2(CACNA1A):c.5941-12C>T
|
|
|
NM_001127222.2(CACNA1A):c.5941-5C>G
|
|
|
NM_001127222.2(CACNA1A):c.5952C>A (p.Pro1984=)
|
rs1600090248
|
|
NM_001127222.2(CACNA1A):c.5955C>A (p.Leu1985=)
|
rs2054861464
|
|
NM_001127222.2(CACNA1A):c.5961C>T (p.Phe1987=)
|
|
|
NM_001127222.2(CACNA1A):c.5964G>C (p.Gln1988His)
|
|
|
NM_001127222.2(CACNA1A):c.5967C>G (p.Arg1989=)
|
rs2144526589
|
|
NM_001127222.2(CACNA1A):c.5976C>G (p.Pro1992=)
|
|
|
NM_001127222.2(CACNA1A):c.5988G>A (p.Thr1996=)
|
rs17846933
|
|
NM_001127222.2(CACNA1A):c.5988G>C (p.Thr1996=)
|
|
|
NM_001127222.2(CACNA1A):c.6000A>G (p.Gly2000=)
|
|
|
NM_001127222.2(CACNA1A):c.6046G>A (p.Ala2016Thr)
|
|
|
NM_001127222.2(CACNA1A):c.6050+15T>C
|
rs2144525883
|
|
NM_001127222.2(CACNA1A):c.6051-11C>T
|
rs759586410
|
|
NM_001127222.2(CACNA1A):c.6051-13del
|
rs2144525353
|
|
NM_001127222.2(CACNA1A):c.6051-16del
|
rs2144525359
|
|
NM_001127222.2(CACNA1A):c.6051-18C>T
|
rs2144525399
|
|
NM_001127222.2(CACNA1A):c.6051-7C>G
|
rs776664699
|
|
NM_001127222.2(CACNA1A):c.6083C>T (p.Pro2028Leu)
|
rs370345937
|
|
NM_001127222.2(CACNA1A):c.6105C>T (p.Ala2035=)
|
rs2144524908
|
|
NM_001127222.2(CACNA1A):c.6132A>G (p.Thr2044=)
|
rs1333411586
|
|
NM_001127222.2(CACNA1A):c.6159C>A (p.Thr2053=)
|
rs767440240
|
|
NM_001127222.2(CACNA1A):c.6159C>T (p.Thr2053=)
|
rs767440240
|
|
NM_001127222.2(CACNA1A):c.6180T>C (p.Pro2060=)
|
rs2054847037
|
|
NM_001127222.2(CACNA1A):c.6183C>T (p.Asn2061=)
|
|
|
NM_001127222.2(CACNA1A):c.6189+10T>C
|
|
|
NM_001127222.2(CACNA1A):c.6189+17A>G
|
|
|
NM_001127222.2(CACNA1A):c.6189+8T>C
|
rs1600089260
|
|
NM_001127222.2(CACNA1A):c.618G>A (p.Val206=)
|
|
|
NM_001127222.2(CACNA1A):c.6190-13A>G
|
rs1600088809
|
|
NM_001127222.2(CACNA1A):c.6195G>A (p.Val2065=)
|
|
|
NM_001127222.2(CACNA1A):c.6198G>A (p.Glu2066=)
|
rs1600088725
|
|
NM_001127222.2(CACNA1A):c.6214A>G (p.Arg2072Gly)
|
rs541830363
|
|
NM_001127222.2(CACNA1A):c.6232A>G (p.Ser2078Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6243C>T (p.Tyr2081=)
|
|
|
NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp)
|
|
|
NM_001127222.2(CACNA1A):c.6277A>G (p.Met2093Val)
|
|
|
NM_001127222.2(CACNA1A):c.6291T>C (p.Pro2097=)
|
|
|
NM_001127222.2(CACNA1A):c.6303+12C>T
|
|
|
NM_001127222.2(CACNA1A):c.6303+17C>G
|
|
|
NM_001127222.2(CACNA1A):c.6303+18T>C
|
|
|
NM_001127222.2(CACNA1A):c.6304-15A>T
|
|
|
NM_001127222.2(CACNA1A):c.6304-18C>T
|
rs933016243
|
|
NM_001127222.2(CACNA1A):c.6304-6T>G
|
|
|
NM_001127222.2(CACNA1A):c.6304-9C>G
|
rs928691437
|
|
NM_001127222.2(CACNA1A):c.6306G>A (p.Arg2102=)
|
rs557017447
|
|
NM_001127222.2(CACNA1A):c.631+15G>C
|
|
|
NM_001127222.2(CACNA1A):c.631+18C>T
|
|
|
NM_001127222.2(CACNA1A):c.631+9G>A
|
|
|
NM_001127222.2(CACNA1A):c.632-15T>A
|
rs2144523661
|
|
NM_001127222.2(CACNA1A):c.632-20CT[3]
|
|
|
NM_001127222.2(CACNA1A):c.632-5C>T
|
rs1310830010
|
|
NM_001127222.2(CACNA1A):c.632-7C>A
|
rs1555774874
|
|
NM_001127222.2(CACNA1A):c.632-7C>T
|
|
|
NM_001127222.2(CACNA1A):c.632-8C>G
|
rs762951690
|
|
NM_001127222.2(CACNA1A):c.6321A>C (p.Pro2107=)
|
rs2054776841
|
|
NM_001127222.2(CACNA1A):c.6339+10G>T
|
rs376238265
|
|
NM_001127222.2(CACNA1A):c.6339+13C>T
|
|
|
NM_001127222.2(CACNA1A):c.6339+16G>A
|
|
|
NM_001127222.2(CACNA1A):c.6340-5C>G
|
rs991192417
|
|
NM_001127222.2(CACNA1A):c.6340-7C>T
|
rs765609971
|
|
NM_001127222.2(CACNA1A):c.6357C>T (p.Ser2119=)
|
rs866806995
|
|
NM_001127222.2(CACNA1A):c.6366G>A (p.Lys2122=)
|
rs1208181261
|
|
NM_001127222.2(CACNA1A):c.63C>A (p.Ala21=)
|
rs946116668
|
|
NM_001127222.2(CACNA1A):c.6422A>G (p.Glu2141Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6424C>A (p.Arg2142=)
|
|
|
NM_001127222.2(CACNA1A):c.6435C>G (p.Pro2145=)
|
|
|
NM_001127222.2(CACNA1A):c.6461G>A (p.Arg2154Gln)
|
|
|
NM_001127222.2(CACNA1A):c.6461G>T (p.Arg2154Leu)
|
rs754317278
|
|
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly)
|
rs554393704
|
|
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)
|
rs554393704
|
|
NM_001127222.2(CACNA1A):c.6474C>A (p.Arg2158=)
|
rs368016666
|
|
NM_001127222.2(CACNA1A):c.6477C>T (p.Ser2159=)
|
|
|
NM_001127222.2(CACNA1A):c.6516T>C (p.Asp2172=)
|
|
|
NM_001127222.2(CACNA1A):c.6526+11C>A
|
|
|
NM_001127222.2(CACNA1A):c.6526+13G>A
|
|
|
NM_001127222.2(CACNA1A):c.6526+16G>A
|
rs2144505254
|
|
NM_001127222.2(CACNA1A):c.6526+7A>C
|
rs972428713
|
|
NM_001127222.2(CACNA1A):c.6527-10C>A
|
|
|
NM_001127222.2(CACNA1A):c.6527-11A>G
|
|
|
NM_001127222.2(CACNA1A):c.6527-4C>T
|
|
|
NM_001127222.2(CACNA1A):c.6528C>T (p.Gly2176=)
|
rs2054695798
|
|
NM_001127222.2(CACNA1A):c.6529T>C (p.Leu2177=)
|
|
|
NM_001127222.2(CACNA1A):c.6540C>T (p.Asp2180=)
|
rs2144502990
|
|
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=)
|
rs201991581
|
|
NM_001127222.2(CACNA1A):c.6576G>A (p.Ser2192=)
|
rs770657980
|
|
NM_001127222.2(CACNA1A):c.6579G>A (p.Lys2193=)
|
|
|
NM_001127222.2(CACNA1A):c.6583C>T (p.Arg2195Trp)
|
rs1463901630
|
|
NM_001127222.2(CACNA1A):c.6585G>C (p.Arg2195=)
|
rs2144502704
|
|
NM_001127222.2(CACNA1A):c.6587_6598del (p.Asp2196_Arg2199del)
|
rs763941704
|
|
NM_001127222.2(CACNA1A):c.6603G>A (p.Arg2201=)
|
|
|
NM_001127222.2(CACNA1A):c.6615G>A (p.Arg2205=)
|
rs2054690020
|
|
NM_001127222.2(CACNA1A):c.6623G>A (p.Arg2208Gln)
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del)
|
rs759331923
|
|
NM_001127222.2(CACNA1A):c.6636C>T (p.His2212=)
|
rs1379281681
|
|
NM_001127222.2(CACNA1A):c.6642C>T (p.His2214=)
|
|
|
NM_001127222.2(CACNA1A):c.6651C>T (p.His2217=)
|
|
|
NM_001127222.2(CACNA1A):c.6666C>T (p.Pro2222=)
|
rs1196254519
|
|
NM_001127222.2(CACNA1A):c.666G>A (p.Ala222=)
|
|
|
NM_001127222.2(CACNA1A):c.666G>C (p.Ala222=)
|
|
|
NM_001127222.2(CACNA1A):c.6672C>T (p.Asp2224=)
|
|
|
NM_001127222.2(CACNA1A):c.6678C>T (p.Asp2226=)
|
|
|
NM_001127222.2(CACNA1A):c.6690G>A (p.Gln2230=)
|
rs2144501238
|
|
NM_001127222.2(CACNA1A):c.6702C>T (p.Asp2234=)
|
|
|
NM_001127222.2(CACNA1A):c.6721C>G (p.Arg2241Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6723G>C (p.Arg2241=)
|
|
|
NM_001127222.2(CACNA1A):c.672C>T (p.Ile224=)
|
rs771429351
|
|
NM_001127222.2(CACNA1A):c.6732C>G (p.Arg2244=)
|
|
|
NM_001127222.2(CACNA1A):c.6766A>G (p.Met2256Val)
|
|
|
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=)
|
rs753884600
|
|
NM_001127222.2(CACNA1A):c.6771G>T (p.Ala2257=)
|
rs753884600
|
|
NM_001127222.2(CACNA1A):c.6775C>A (p.Arg2259=)
|
rs750267834
|
|
NM_001127222.2(CACNA1A):c.6780+13_6780+14delinsTT
|
rs2144500224
|
|
NM_001127222.2(CACNA1A):c.6780+19G>A
|
|
|
NM_001127222.2(CACNA1A):c.678G>A (p.Leu226=)
|
rs2144523263
|
|
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.75G>C (p.Val25=)
|
|
|
NM_001127222.2(CACNA1A):c.784+16A>T
|
rs1445259892
|
|
NM_001127222.2(CACNA1A):c.785-17C>G
|
|
|
NM_001127222.2(CACNA1A):c.785-6T>C
|
|
|
NM_001127222.2(CACNA1A):c.78C>A (p.Gly26=)
|
|
|
NM_001127222.2(CACNA1A):c.810T>C (p.Ala270=)
|
|
|
NM_001127222.2(CACNA1A):c.819G>C (p.Gly273=)
|
|
|
NM_001127222.2(CACNA1A):c.831C>G (p.Pro277=)
|
rs568635317
|
|
NM_001127222.2(CACNA1A):c.843C>T (p.Cys281=)
|
rs2145245583
|
|
NM_001127222.2(CACNA1A):c.867C>G (p.Pro289=)
|
rs777059446
|
|
NM_001127222.2(CACNA1A):c.90G>A (p.Gly30=)
|
|
|
NM_001127222.2(CACNA1A):c.913C>T (p.Leu305=)
|
rs1599276914
|
|
NM_001127222.2(CACNA1A):c.91C>A (p.Arg31=)
|
|
|
NM_001127222.2(CACNA1A):c.936C>T (p.Phe312=)
|
|
|
NM_001127222.2(CACNA1A):c.969C>T (p.Leu323=)
|
rs1210220449
|
|
NM_001127222.2(CACNA1A):c.978+12T>C
|
rs755859875
|
|
NM_001127222.2(CACNA1A):c.978+12T>G
|
|
|
NM_001127222.2(CACNA1A):c.978+19G>A
|
|
|
NM_001127222.2(CACNA1A):c.979-13T>C
|
|
|
NM_001127222.2(CACNA1A):c.979-19C>G
|
rs2145140905
|
|
NM_001127222.2(CACNA1A):c.979-5T>A
|
rs2145140730
|
|
NM_001127222.2(CACNA1A):c.979-6C>G
|
rs773529741
|
|
NM_001127222.2(CACNA1A):c.979-8C>T
|
|
|
NM_001127222.2(CACNA1A):c.979-9A>C
|
|
|
NM_001127222.2(CACNA1A):c.990C>G (p.Ala330=)
|
rs1555767932
|
|
NM_001243279.3(ACSF3):c.1005G>A (p.Leu335=)
|
rs1389252296
|
|
NM_001243279.3(ACSF3):c.1041G>A (p.Thr347=)
|
rs376153659
|
|
NM_001243279.3(ACSF3):c.1041G>C (p.Thr347=)
|
rs376153659
|
|
NM_001243279.3(ACSF3):c.1044C>T (p.Gly348=)
|
|
|
NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=)
|
rs899144976
|
|
NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=)
|
rs899144976
|
|
NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=)
|
rs1567702985
|
|
NM_001243279.3(ACSF3):c.1053G>C (p.Leu351=)
|
|
|
NM_001243279.3(ACSF3):c.1062G>T (p.Arg354=)
|
|
|
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=)
|
rs374451559
|
|
NM_001243279.3(ACSF3):c.1080C>A (p.Ile360=)
|
rs749101905
|
|
NM_001243279.3(ACSF3):c.1080C>T (p.Ile360=)
|
rs749101905
|
|
NM_001243279.3(ACSF3):c.108A>G (p.Pro36=)
|
|
|
NM_001243279.3(ACSF3):c.1090C>T (p.Leu364=)
|
rs1156341271
|
|
NM_001243279.3(ACSF3):c.1092G>A (p.Leu364=)
|
rs775808630
|
|
NM_001243279.3(ACSF3):c.1092G>C (p.Leu364=)
|
rs775808630
|
|
NM_001243279.3(ACSF3):c.1092G>T (p.Leu364=)
|
rs775808630
|
|
NM_001243279.3(ACSF3):c.1107C>G (p.Thr369=)
|
rs750959933
|
|
NM_001243279.3(ACSF3):c.1107C>T (p.Thr369=)
|
|
|
NM_001243279.3(ACSF3):c.1116G>A (p.Val372=)
|
rs2151454775
|
|
NM_001243279.3(ACSF3):c.1119C>T (p.Arg373=)
|
rs2151454814
|
|
NM_001243279.3(ACSF3):c.1120C>T (p.Leu374=)
|
|
|
NM_001243279.3(ACSF3):c.1126+10C>T
|
rs2151454938
|
|
NM_001243279.3(ACSF3):c.1126+18A>C
|
|
|
NM_001243279.3(ACSF3):c.1127-12C>G
|
|
|
NM_001243279.3(ACSF3):c.1127-12C>T
|
|
|
NM_001243279.3(ACSF3):c.1127-14C>A
|
|
|
NM_001243279.3(ACSF3):c.1127-14C>G
|
|
|
NM_001243279.3(ACSF3):c.1127-18G>A
|
|
|
NM_001243279.3(ACSF3):c.1127-4G>A
|
rs1327850217
|
|
NM_001243279.3(ACSF3):c.1127-7C>A
|
rs761564953
|
|
NM_001243279.3(ACSF3):c.1127-9C>T
|
rs536593488
|
|
NM_001243279.3(ACSF3):c.1131C>A (p.Ser377=)
|
rs138395741
|
|
NM_001243279.3(ACSF3):c.1144C>T (p.Leu382=)
|
|
|
NM_001243279.3(ACSF3):c.1155A>C (p.Val385=)
|
|
|
NM_001243279.3(ACSF3):c.1155A>G (p.Val385=)
|
|
|
NM_001243279.3(ACSF3):c.1164C>T (p.Arg388=)
|
rs2151478873
|
|
NM_001243279.3(ACSF3):c.117C>T (p.Arg39=)
|
rs2151405382
|
|
NM_001243279.3(ACSF3):c.1188G>A (p.Arg396=)
|
rs1378994162
|
|
NM_001243279.3(ACSF3):c.1194C>T (p.Ala398=)
|
rs371890371
|
|
NM_001243279.3(ACSF3):c.1206C>T (p.Thr402=)
|
|
|
NM_001243279.3(ACSF3):c.1209C>A (p.Ile403=)
|
|
|
NM_001243279.3(ACSF3):c.1209C>T (p.Ile403=)
|
rs1906478952
|
|
NM_001243279.3(ACSF3):c.120G>T (p.Ser40=)
|
|
|
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=)
|
rs1047268029
|
|
NM_001243279.3(ACSF3):c.1227G>A (p.Glu409=)
|
rs781247397
|
|
NM_001243279.3(ACSF3):c.1230G>A (p.Arg410=)
|
rs2151479090
|
|
NM_001243279.3(ACSF3):c.1236C>G (p.Thr412=)
|
rs2151479113
|
|
NM_001243279.3(ACSF3):c.1239+10T>C
|
rs2151479176
|
|
NM_001243279.3(ACSF3):c.1239+11C>A
|
|
|
NM_001243279.3(ACSF3):c.1239+11C>G
|
|
|
NM_001243279.3(ACSF3):c.1239+13G>A
|
|
|
NM_001243279.3(ACSF3):c.1239+14C>T
|
|
|
NM_001243279.3(ACSF3):c.1239+19G>A
|
|
|
NM_001243279.3(ACSF3):c.1239+20G>C
|
|
|
NM_001243279.3(ACSF3):c.1239+7C>T
|
|
|
NM_001243279.3(ACSF3):c.1239+8A>T
|
rs746314037
|
|
NM_001243279.3(ACSF3):c.123C>T (p.Asp41=)
|
rs901883302
|
|
NM_001243279.3(ACSF3):c.1240-11A>C
|
|
|
NM_001243279.3(ACSF3):c.1240-15C>G
|
|
|
NM_001243279.3(ACSF3):c.1240-17T>C
|
|
|
NM_001243279.3(ACSF3):c.1240-18G>A
|
|
|
NM_001243279.3(ACSF3):c.1240-19T>C
|
|
|
NM_001243279.3(ACSF3):c.1240-20A>G
|
|
|
NM_001243279.3(ACSF3):c.1240-6C>T
|
|
|
NM_001243279.3(ACSF3):c.1240-7T>G
|
|
|
NM_001243279.3(ACSF3):c.1240-8C>T
|
rs1598040505
|
|
NM_001243279.3(ACSF3):c.1245C>A (p.Thr415=)
|
|
|
NM_001243279.3(ACSF3):c.1251G>A (p.Gly417=)
|
rs3743984
|
|
NM_001243279.3(ACSF3):c.1257A>G (p.Glu419=)
|
rs760524726
|
|
NM_001243279.3(ACSF3):c.1260A>G (p.Glu420=)
|
rs2151520849
|
|
NM_001243279.3(ACSF3):c.1263G>A (p.Lys421=)
|
|
|
NM_001243279.3(ACSF3):c.1293C>T (p.Ser431=)
|
rs1237151757
|
|
NM_001243279.3(ACSF3):c.1296G>C (p.Val432=)
|
|
|
NM_001243279.3(ACSF3):c.1299T>C (p.Phe433=)
|
rs2151521008
|
|
NM_001243279.3(ACSF3):c.1305A>G (p.Glu435=)
|
rs375414491
|
|
NM_001243279.3(ACSF3):c.1320A>G (p.Pro440=)
|
rs998246075
|
|
NM_001243279.3(ACSF3):c.132C>T (p.Ala44=)
|
rs1444580425
|
|
NM_001243279.3(ACSF3):c.1345C>T (p.Leu449=)
|
rs2151521187
|
|
NM_001243279.3(ACSF3):c.1353C>G (p.Gly451=)
|
|
|
NM_001243279.3(ACSF3):c.135G>A (p.Pro45=)
|
rs775551806
|
|
NM_001243279.3(ACSF3):c.135G>C (p.Pro45=)
|
rs775551806
|
|
NM_001243279.3(ACSF3):c.1366+11G>C
|
|
|
NM_001243279.3(ACSF3):c.1366+11_1366+16del
|
|
|
NM_001243279.3(ACSF3):c.1366+15C>T
|
|
|
NM_001243279.3(ACSF3):c.1366+16A>G
|
|
|
NM_001243279.3(ACSF3):c.1366+17T>C
|
|
|
NM_001243279.3(ACSF3):c.1366+9C>G
|
rs2151521275
|
|
NM_001243279.3(ACSF3):c.1366+9C>T
|
rs2151521275
|
|
NM_001243279.3(ACSF3):c.1367-11C>T
|
|
|
NM_001243279.3(ACSF3):c.1367-13C>T
|
|
|
NM_001243279.3(ACSF3):c.1367-15G>T
|
|
|
NM_001243279.3(ACSF3):c.1367-36_1367-7del
|
rs2151562216
|
|
NM_001243279.3(ACSF3):c.1367-4T>A
|
rs2151562350
|
|
NM_001243279.3(ACSF3):c.1367-8T>A
|
|
|
NM_001243279.3(ACSF3):c.1368G>A (p.Gly456=)
|
rs2151562365
|
|
NM_001243279.3(ACSF3):c.1368G>C (p.Gly456=)
|
rs2151562365
|
|
NM_001243279.3(ACSF3):c.1380G>T (p.Val460=)
|
rs554032555
|
|
NM_001243279.3(ACSF3):c.138G>A (p.Val46=)
|
rs1597887201
|
|
NM_001243279.3(ACSF3):c.1392C>A (p.Gly464=)
|
rs200661983
|
|
NM_001243279.3(ACSF3):c.1395G>A (p.Gln465=)
|
rs1451312853
|
|
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)
|
rs144681140
|
|
NM_001243279.3(ACSF3):c.1407A>G (p.Arg469=)
|
rs1912703262
|
|
NM_001243279.3(ACSF3):c.1410C>A (p.Gly470=)
|
rs1912704218
|
|
NM_001243279.3(ACSF3):c.1410C>G (p.Gly470=)
|
rs1912704218
|
|
NM_001243279.3(ACSF3):c.1410C>T (p.Gly470=)
|
|
|
NM_001243279.3(ACSF3):c.1413G>A (p.Arg471=)
|
|
|
NM_001243279.3(ACSF3):c.1419A>C (p.Ser473=)
|
|
|
NM_001243279.3(ACSF3):c.1419A>G (p.Ser473=)
|
|
|
NM_001243279.3(ACSF3):c.141C>T (p.Phe47=)
|
rs2151405540
|
|
NM_001243279.3(ACSF3):c.1425C>T (p.Asp475=)
|
rs2151562576
|
|
NM_001243279.3(ACSF3):c.1431C>T (p.Ile477=)
|
|
|
NM_001243279.3(ACSF3):c.1437T>G (p.Thr479=)
|
rs2151562625
|
|
NM_001243279.3(ACSF3):c.1446C>T (p.Tyr482=)
|
|
|
NM_001243279.3(ACSF3):c.1449G>A (p.Lys483=)
|
rs2151562665
|
|
NM_001243279.3(ACSF3):c.1455C>T (p.Ser485=)
|
rs377487769
|
|
NM_001243279.3(ACSF3):c.1458C>T (p.Ala486=)
|
|
|
NM_001243279.3(ACSF3):c.1459C>T (p.Leu487=)
|
|
|
NM_001243279.3(ACSF3):c.1467G>A (p.Val489=)
|
rs115776284
|
|
NM_001243279.3(ACSF3):c.1476C>T (p.His492=)
|
rs1348371629
|
|
NM_001243279.3(ACSF3):c.147T>A (p.Arg49=)
|
rs2151405575
|
|
NM_001243279.3(ACSF3):c.1482G>C (p.Leu494=)
|
|
|
NM_001243279.3(ACSF3):c.1491C>G (p.Pro497=)
|
rs2151562831
|
|
NM_001243279.3(ACSF3):c.1491C>T (p.Pro497=)
|
rs2151562831
|
|
NM_001243279.3(ACSF3):c.1501+12G>A
|
|
|
NM_001243279.3(ACSF3):c.1501+18G>A
|
|
|
NM_001243279.3(ACSF3):c.1501+20C>T
|
|
|
NM_001243279.3(ACSF3):c.1502-13C>T
|
|
|
NM_001243279.3(ACSF3):c.1502-20A>G
|
|
|
NM_001243279.3(ACSF3):c.1502-6C>A
|
|
|
NM_001243279.3(ACSF3):c.1512G>A (p.Val504=)
|
|
|
NM_001243279.3(ACSF3):c.151C>T (p.Leu51=)
|
|
|
NM_001243279.3(ACSF3):c.1524G>C (p.Pro508=)
|
|
|
NM_001243279.3(ACSF3):c.1524G>T (p.Pro508=)
|
|
|
NM_001243279.3(ACSF3):c.1533A>G (p.Thr511=)
|
rs1012271385
|
|
NM_001243279.3(ACSF3):c.1542G>A (p.Gln514=)
|
rs746953848
|
|
NM_001243279.3(ACSF3):c.1545G>T (p.Arg515=)
|
|
|
NM_001243279.3(ACSF3):c.1554T>G (p.Ala518=)
|
|
|
NM_001243279.3(ACSF3):c.1560G>C (p.Val520=)
|
|
|
NM_001243279.3(ACSF3):c.1563C>A (p.Thr521=)
|
|
|
NM_001243279.3(ACSF3):c.156C>G (p.Ala52=)
|
|
|
NM_001243279.3(ACSF3):c.1581A>G (p.Ser527=)
|
rs753356664
|
|
NM_001243279.3(ACSF3):c.1587C>G (p.Ser529=)
|
rs778486871
|
|
NM_001243279.3(ACSF3):c.1587C>T (p.Ser529=)
|
rs778486871
|
|
NM_001243279.3(ACSF3):c.1596G>A (p.Glu532=)
|
rs1912883419
|
|
NM_001243279.3(ACSF3):c.1599C>T (p.Leu533=)
|
|
|
NM_001243279.3(ACSF3):c.1611C>T (p.Ala537=)
|
|
|
NM_001243279.3(ACSF3):c.1613+17C>T
|
|
|
NM_001243279.3(ACSF3):c.1613+18G>A
|
|
|
NM_001243279.3(ACSF3):c.1613+20G>T
|
|
|
NM_001243279.3(ACSF3):c.1613+7C>T
|
rs1179755069
|
|
NM_001243279.3(ACSF3):c.1613+9G>T
|
rs974191447
|
|
NM_001243279.3(ACSF3):c.1614-16G>A
|
|
|
NM_001243279.3(ACSF3):c.1614-19G>A
|
|
|
NM_001243279.3(ACSF3):c.1614-7T>C
|
|
|
NM_001243279.3(ACSF3):c.1614-8C>G
|
rs375091095
|
|
NM_001243279.3(ACSF3):c.1614-8C>T
|
rs375091095
|
|
NM_001243279.3(ACSF3):c.1617T>C (p.Asn539=)
|
|
|
NM_001243279.3(ACSF3):c.1629G>T (p.Pro543=)
|
rs146779456
|
|
NM_001243279.3(ACSF3):c.162G>A (p.Gly54=)
|
|
|
NM_001243279.3(ACSF3):c.1635G>A (p.Ala545=)
|
|
|
NM_001243279.3(ACSF3):c.1638G>A (p.Val546=)
|
|
|
NM_001243279.3(ACSF3):c.1644G>A (p.Ser548=)
|
|
|
NM_001243279.3(ACSF3):c.1650G>A (p.Leu550=)
|
rs1597281839
|
|
NM_001243279.3(ACSF3):c.1654C>T (p.Leu552=)
|
|
|
NM_001243279.3(ACSF3):c.1656G>C (p.Leu552=)
|
|
|
NM_001243279.3(ACSF3):c.1665G>A (p.Glu555=)
|
rs1245847525
|
|
NM_001243279.3(ACSF3):c.1695C>T (p.Asp565=)
|
rs767036317
|
|
NM_001243279.3(ACSF3):c.1698G>A (p.Lys566=)
|
rs2151586215
|
|
NM_001243279.3(ACSF3):c.1704G>T (p.Ala568=)
|
|
|
NM_001243279.3(ACSF3):c.1707C>A (p.Leu569=)
|
|
|
NM_001243279.3(ACSF3):c.1707C>T (p.Leu569=)
|
|
|
NM_001243279.3(ACSF3):c.1710C>T (p.Ile570=)
|
rs753754672
|
|
NM_001243279.3(ACSF3):c.1716C>T (p.His572=)
|
|
|
NM_001243279.3(ACSF3):c.1719C>T (p.Phe573=)
|
rs1914461577
|
|
NM_001243279.3(ACSF3):c.1725C>T (p.Pro575=)
|
|
|
NM_001243279.3(ACSF3):c.1728A>G (p.Ser576=)
|
rs1914464370
|
|
NM_001243279.3(ACSF3):c.1730G>A (p.Ter577=)
|
rs2151586302
|
|
NM_001243279.3(ACSF3):c.177G>A (p.Leu59=)
|
|
|
NM_001243279.3(ACSF3):c.192C>T (p.Gly64=)
|
|
|
NM_001243279.3(ACSF3):c.216T>C (p.Tyr72=)
|
rs1405537973
|
|
NM_001243279.3(ACSF3):c.219C>A (p.Ser73=)
|
rs1975219207
|
|
NM_001243279.3(ACSF3):c.231C>T (p.Arg77=)
|
|
|
NM_001243279.3(ACSF3):c.237C>T (p.Ser79=)
|
rs2151406106
|
|
NM_001243279.3(ACSF3):c.24C>G (p.Thr8=)
|
|
|
NM_001243279.3(ACSF3):c.252G>A (p.Arg84=)
|
|
|
NM_001243279.3(ACSF3):c.255C>G (p.Leu85=)
|
|
|
NM_001243279.3(ACSF3):c.255C>T (p.Leu85=)
|
|
|
NM_001243279.3(ACSF3):c.261G>C (p.Gly87=)
|
|
|
NM_001243279.3(ACSF3):c.27C>T (p.Phe9=)
|
|
|
NM_001243279.3(ACSF3):c.282G>A (p.Arg94=)
|
rs2151406487
|
|
NM_001243279.3(ACSF3):c.294C>T (p.Val98=)
|
|
|
NM_001243279.3(ACSF3):c.297C>A (p.Ser99=)
|
rs59213357
|
|
NM_001243279.3(ACSF3):c.303A>G (p.Leu101=)
|
|
|
NM_001243279.3(ACSF3):c.333C>G (p.Ala111=)
|
|
|
NM_001243279.3(ACSF3):c.333C>T (p.Ala111=)
|
rs1267933456
|
|
NM_001243279.3(ACSF3):c.33C>G (p.Arg11=)
|
|
|
NM_001243279.3(ACSF3):c.33C>T (p.Arg11=)
|
|
|
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=)
|
rs6500527
|
|
NM_001243279.3(ACSF3):c.345A>G (p.Ser115=)
|
rs1446396475
|
|
NM_001243279.3(ACSF3):c.363G>A (p.Val121=)
|
|
|
NM_001243279.3(ACSF3):c.369C>G (p.Val123=)
|
rs6500529
|
|
NM_001243279.3(ACSF3):c.36G>T (p.Leu12=)
|
|
|
NM_001243279.3(ACSF3):c.390C>G (p.Pro130=)
|
rs368192538
|
|
NM_001243279.3(ACSF3):c.396C>A (p.Ala132=)
|
|
|
NM_001243279.3(ACSF3):c.399G>A (p.Gln133=)
|
rs370968781
|
|
NM_001243279.3(ACSF3):c.423C>G (p.Ser141=)
|
|
|
NM_001243279.3(ACSF3):c.435G>A (p.Val145=)
|
rs759185741
|
|
NM_001243279.3(ACSF3):c.438C>T (p.Val146=)
|
rs1381436509
|
|
NM_001243279.3(ACSF3):c.444C>T (p.Ala148=)
|
rs1373108224
|
|
NM_001243279.3(ACSF3):c.453G>A (p.Glu151=)
|
|
|
NM_001243279.3(ACSF3):c.456C>T (p.Tyr152=)
|
rs147899198
|
|
NM_001243279.3(ACSF3):c.45C>T (p.Ala15=)
|
|
|
NM_001243279.3(ACSF3):c.468G>A (p.Leu156=)
|
|
|
NM_001243279.3(ACSF3):c.474G>C (p.Pro158=)
|
|
|
NM_001243279.3(ACSF3):c.474G>T (p.Pro158=)
|
rs757199694
|
|
NM_001243279.3(ACSF3):c.477G>C (p.Val159=)
|
|
|
NM_001243279.3(ACSF3):c.481A>C (p.Arg161=)
|
rs758530787
|
|
NM_001243279.3(ACSF3):c.486G>A (p.Lys162=)
|
rs2151408219
|
|
NM_001243279.3(ACSF3):c.498G>C (p.Pro166=)
|
|
|
NM_001243279.3(ACSF3):c.498G>T (p.Pro166=)
|
rs748625786
|
|
NM_001243279.3(ACSF3):c.501G>A (p.Leu167=)
|
|
|
NM_001243279.3(ACSF3):c.502C>T (p.Leu168=)
|
rs1403364770
|
|
NM_001243279.3(ACSF3):c.51G>A (p.Ala17=)
|
rs7201122
|
|
NM_001243279.3(ACSF3):c.51G>T (p.Ala17=)
|
rs7201122
|
|
NM_001243279.3(ACSF3):c.540G>A (p.Glu180=)
|
rs866824182
|
|
NM_001243279.3(ACSF3):c.549A>G (p.Ala183=)
|
|
|
NM_001243279.3(ACSF3):c.54C>T (p.Ser18=)
|
rs2151405049
|
|
NM_001243279.3(ACSF3):c.555C>G (p.Val185=)
|
rs1260446910
|
|
NM_001243279.3(ACSF3):c.558G>C (p.Pro186=)
|
|
|
NM_001243279.3(ACSF3):c.573A>G (p.Gly191=)
|
rs1307415970
|
|
NM_001243279.3(ACSF3):c.573A>T (p.Gly191=)
|
rs1307415970
|
|
NM_001243279.3(ACSF3):c.582C>T (p.Asn194=)
|
|
|
NM_001243279.3(ACSF3):c.585G>A (p.Lys195=)
|
rs2151409119
|
|
NM_001243279.3(ACSF3):c.591C>T (p.Ala197=)
|
rs1259550164
|
|
NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro)
|
|
|
NM_001243279.3(ACSF3):c.600C>T (p.Ile200=)
|
|
|
NM_001243279.3(ACSF3):c.609T>C (p.Ser203=)
|
|
|
NM_001243279.3(ACSF3):c.60G>A (p.Arg20=)
|
rs1555560476
|
|
NM_001243279.3(ACSF3):c.60G>T (p.Arg20=)
|
rs1555560476
|
|
NM_001243279.3(ACSF3):c.612G>T (p.Gly204=)
|
|
|
NM_001243279.3(ACSF3):c.618G>A (p.Thr206=)
|
rs753012038
|
|
NM_001243279.3(ACSF3):c.618G>T (p.Thr206=)
|
rs753012038
|
|
NM_001243279.3(ACSF3):c.633C>G (p.Gly211=)
|
|
|
NM_001243279.3(ACSF3):c.645G>C (p.Thr215=)
|
rs772996642
|
|
NM_001243279.3(ACSF3):c.657C>T (p.Ile219=)
|
|
|
NM_001243279.3(ACSF3):c.666+10G>A
|
rs752914229
|
|
NM_001243279.3(ACSF3):c.666+10G>C
|
|
|
NM_001243279.3(ACSF3):c.666+10G>T
|
|
|
NM_001243279.3(ACSF3):c.666+12C>T
|
|
|
NM_001243279.3(ACSF3):c.666+16C>T
|
|
|
NM_001243279.3(ACSF3):c.666+17G>A
|
|
|
NM_001243279.3(ACSF3):c.666+19C>T
|
|
|
NM_001243279.3(ACSF3):c.667-10T>C
|
|
|
NM_001243279.3(ACSF3):c.667-11G>A
|
|
|
NM_001243279.3(ACSF3):c.667-14C>G
|
|
|
NM_001243279.3(ACSF3):c.667-14C>T
|
|
|
NM_001243279.3(ACSF3):c.667-19G>A
|
|
|
NM_001243279.3(ACSF3):c.667-4G>A
|
|
|
NM_001243279.3(ACSF3):c.667-6C>G
|
|
|
NM_001243279.3(ACSF3):c.667-9C>A
|
|
|
NM_001243279.3(ACSF3):c.667-9C>G
|
|
|
NM_001243279.3(ACSF3):c.667-9C>T
|
rs369865917
|
|
NM_001243279.3(ACSF3):c.669G>A (p.Val223=)
|
rs772127402
|
|
NM_001243279.3(ACSF3):c.669G>T (p.Val223=)
|
rs772127402
|
|
NM_001243279.3(ACSF3):c.66G>T (p.Ala22=)
|
rs751461445
|
|
NM_001243279.3(ACSF3):c.693A>G (p.Ala231=)
|
|
|
NM_001243279.3(ACSF3):c.699C>T (p.Thr233=)
|
|
|
NM_001243279.3(ACSF3):c.714C>T (p.Ile238=)
|
|
|
NM_001243279.3(ACSF3):c.723G>A (p.Val241=)
|
rs1597898369
|
|
NM_001243279.3(ACSF3):c.723G>T (p.Val241=)
|
|
|
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=)
|
rs768799062
|
|
NM_001243279.3(ACSF3):c.729G>T (p.Pro243=)
|
rs768799062
|
|
NM_001243279.3(ACSF3):c.72G>C (p.Ala24=)
|
rs752720474
|
|
NM_001243279.3(ACSF3):c.732G>C (p.Leu244=)
|
|
|
NM_001243279.3(ACSF3):c.735C>T (p.His245=)
|
rs1397465454
|
|
NM_001243279.3(ACSF3):c.747T>C (p.Gly249=)
|
rs1419853894
|
|
NM_001243279.3(ACSF3):c.750G>T (p.Val250=)
|
rs1045898328
|
|
NM_001243279.3(ACSF3):c.759G>T (p.Ala253=)
|
rs765643653
|
|
NM_001243279.3(ACSF3):c.75A>G (p.Arg25=)
|
rs931176162
|
|
NM_001243279.3(ACSF3):c.762G>A (p.Leu254=)
|
rs2151416739
|
|
NM_001243279.3(ACSF3):c.765C>G (p.Leu255=)
|
|
|
NM_001243279.3(ACSF3):c.765C>T (p.Leu255=)
|
rs750139721
|
|
NM_001243279.3(ACSF3):c.771T>A (p.Pro257=)
|
|
|
NM_001243279.3(ACSF3):c.786C>A (p.Ala262=)
|
rs2151416786
|
|
NM_001243279.3(ACSF3):c.789C>G (p.Thr263=)
|
|
|
NM_001243279.3(ACSF3):c.792T>C (p.Cys264=)
|
rs2151416808
|
|
NM_001243279.3(ACSF3):c.79A>C (p.Arg27=)
|
|
|
NM_001243279.3(ACSF3):c.804T>C (p.Pro268=)
|
|
|
NM_001243279.3(ACSF3):c.822+10G>A
|
|
|
NM_001243279.3(ACSF3):c.822+10G>C
|
rs771232327
|
|
NM_001243279.3(ACSF3):c.822+12_822+61del
|
|
|
NM_001243279.3(ACSF3):c.822+12dup
|
|
|
NM_001243279.3(ACSF3):c.822+15G>A
|
|
|
NM_001243279.3(ACSF3):c.822+16G>C
|
|
|
NM_001243279.3(ACSF3):c.823-18G>T
|
|
|
NM_001243279.3(ACSF3):c.823-19T>C
|
|
|
NM_001243279.3(ACSF3):c.823-4G>A
|
rs558325262
|
|
NM_001243279.3(ACSF3):c.823-7T>A
|
|
|
NM_001243279.3(ACSF3):c.823-8C>G
|
rs776024101
|
|
NM_001243279.3(ACSF3):c.831A>G (p.Glu277=)
|
|
|
NM_001243279.3(ACSF3):c.837C>T (p.Phe279=)
|
|
|
NM_001243279.3(ACSF3):c.838T>C (p.Leu280=)
|
|
|
NM_001243279.3(ACSF3):c.846T>C (p.Ser282=)
|
rs1597942772
|
|
NM_001243279.3(ACSF3):c.84A>G (p.Gly28=)
|
|
|
NM_001243279.3(ACSF3):c.856C>A (p.Arg286=)
|
|
|
NM_001243279.3(ACSF3):c.858G>C (p.Arg286=)
|
rs1378884062
|
|
NM_001243279.3(ACSF3):c.858G>T (p.Arg286=)
|
|
|
NM_001243279.3(ACSF3):c.861C>T (p.Ile287=)
|
|
|
NM_001243279.3(ACSF3):c.864T>C (p.Asn288=)
|
|
|
NM_001243279.3(ACSF3):c.867C>A (p.Val289=)
|
|
|
NM_001243279.3(ACSF3):c.867C>T (p.Val289=)
|
rs1246005897
|
|
NM_001243279.3(ACSF3):c.870T>C (p.Phe290=)
|
rs2151444679
|
|
NM_001243279.3(ACSF3):c.876A>G (p.Ala292=)
|
|
|
NM_001243279.3(ACSF3):c.885A>G (p.Thr295=)
|
|
|
NM_001243279.3(ACSF3):c.894C>G (p.Thr298=)
|
rs2151444809
|
|
NM_001243279.3(ACSF3):c.900G>A (p.Leu300=)
|
rs1976764124
|
|
NM_001243279.3(ACSF3):c.906G>A (p.Glu302=)
|
|
|
NM_001243279.3(ACSF3):c.939C>T (p.Ala313=)
|
rs770510501
|
|
NM_001243279.3(ACSF3):c.957A>G (p.Ala319=)
|
rs1165098721
|
|
NM_001243279.3(ACSF3):c.977+18A>G
|
|
|
NM_001243279.3(ACSF3):c.978-19C>G
|
|
|
NM_001243279.3(ACSF3):c.978-19C>T
|
|
|
NM_001243279.3(ACSF3):c.978-20C>T
|
|
|
NM_001243279.3(ACSF3):c.978-6G>T
|
rs377217672
|
|
NM_001243279.3(ACSF3):c.978-8C>T
|
|
|
NM_001243279.3(ACSF3):c.987C>A (p.Val329=)
|
rs1426240105
|
|
NM_001243279.3(ACSF3):c.990A>G (p.Ser330=)
|
rs2151453873
|
|
NM_001243279.3(ACSF3):c.993C>T (p.Gly331=)
|
|
|
NM_001243279.3(ACSF3):c.996A>G (p.Ser332=)
|
|
|
NM_001243279.3(ACSF3):c.999T>C (p.Ala333=)
|
rs2151453925
|
|
NM_001258392.3(CLPB):c.1033C>T (p.Leu345=)
|
rs1949786030
|
|
NM_001258392.3(CLPB):c.103C>A (p.Arg35=)
|
|
|
NM_001258392.3(CLPB):c.1047C>T (p.Phe349=)
|
|
|
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=)
|
rs1949785389
|
|
NM_001258392.3(CLPB):c.1066+9del
|
rs1204558796
|
|
NM_001258392.3(CLPB):c.1067-11T>C
|
|
|
NM_001258392.3(CLPB):c.1067-20T>A
|
|
|
NM_001258392.3(CLPB):c.1067-20T>C
|
|
|
NM_001258392.3(CLPB):c.1067-9T>C
|
rs372848873
|
|
NM_001258392.3(CLPB):c.1122+11G>A
|
|
|
NM_001258392.3(CLPB):c.1122+16T>G
|
|
|
NM_001258392.3(CLPB):c.1123-13T>C
|
|
|
NM_001258392.3(CLPB):c.1123-18T>C
|
|
|
NM_001258392.3(CLPB):c.1132A>T (p.Arg378Trp)
|
|
|
NM_001258392.3(CLPB):c.1134G>A (p.Arg378=)
|
rs890501416
|
|
NM_001258392.3(CLPB):c.1137G>A (p.Leu379=)
|
rs267603176
|
|
NM_001258392.3(CLPB):c.114T>C (p.Thr38=)
|
rs1590948323
|
|
NM_001258392.3(CLPB):c.1167+10G>A
|
|
|
NM_001258392.3(CLPB):c.1167+9T>C
|
|
|
NM_001258392.3(CLPB):c.1168-9T>C
|
rs979851122
|
|
NM_001258392.3(CLPB):c.1230C>T (p.Thr410=)
|
|
|
NM_001258392.3(CLPB):c.1245G>A (p.Gln415=)
|
|
|
NM_001258392.3(CLPB):c.1275A>G (p.Glu425=)
|
|
|
NM_001258392.3(CLPB):c.1299G>C (p.Val433=)
|
|
|
NM_001258392.3(CLPB):c.1320G>A (p.Leu440=)
|
rs146721061
|
|
NM_001258392.3(CLPB):c.1371G>A (p.Lys457=)
|
|
|
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=)
|
rs1949536469
|
|
NM_001258392.3(CLPB):c.1440G>A (p.Arg480=)
|
|
|
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys)
|
rs1555085159
|
|
NM_001258392.3(CLPB):c.1486+7C>T
|
|
|
NM_001258392.3(CLPB):c.1486+8G>A
|
|
|
NM_001258392.3(CLPB):c.1487-17_1487-16del
|
|
|
NM_001258392.3(CLPB):c.1548C>T (p.Arg516=)
|
|
|
NM_001258392.3(CLPB):c.1560+19C>T
|
|
|
NM_001258392.3(CLPB):c.1561-12C>G
|
|
|
NM_001258392.3(CLPB):c.1561-18_1561-12del
|
rs1166987571
|
|
NM_001258392.3(CLPB):c.1561-20C>T
|
|
|
NM_001258392.3(CLPB):c.1561-7C>T
|
|
|
NM_001258392.3(CLPB):c.1623C>T (p.Phe541=)
|
|
|
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=)
|
rs1949510719
|
|
NM_001258392.3(CLPB):c.1680+9G>A
|
|
|
NM_001258392.3(CLPB):c.1681-17T>C
|
|
|
NM_001258392.3(CLPB):c.174A>G (p.Thr58=)
|
|
|
NM_001258392.3(CLPB):c.1764C>T (p.Gly588=)
|
|
|
NM_001258392.3(CLPB):c.1785+13G>A
|
|
|
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
|
|
|
NM_001258392.3(CLPB):c.1836G>T (p.Leu612=)
|
|
|
NM_001258392.3(CLPB):c.183C>T (p.Ala61=)
|
|
|
NM_001258392.3(CLPB):c.1890A>G (p.Leu630=)
|
|
|
NM_001258392.3(CLPB):c.1902A>C (p.Pro634=)
|
rs776395544
|
|
NM_001258392.3(CLPB):c.1902A>G (p.Pro634=)
|
|
|
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=)
|
rs2135483654
|
|
NM_001258392.3(CLPB):c.1920G>A (p.Gln640=)
|
|
|
NM_001258392.3(CLPB):c.1959C>T (p.Ile653=)
|
|
|
NM_001258392.3(CLPB):c.2028C>T (p.Thr676=)
|
rs2135483266
|
|
NM_001258392.3(CLPB):c.213G>A (p.Gly71=)
|
rs1856645490
|
|
NM_001258392.3(CLPB):c.270C>T (p.Arg90=)
|
|
|
NM_001258392.3(CLPB):c.282C>T (p.Pro94=)
|
|
|
NM_001258392.3(CLPB):c.303G>A (p.Gln101=)
|
|
|
NM_001258392.3(CLPB):c.315C>T (p.Asn105=)
|
|
|
NM_001258392.3(CLPB):c.34C>T (p.Leu12=)
|
|
|
NM_001258392.3(CLPB):c.352C>T (p.Leu118=)
|
|
|
NM_001258392.3(CLPB):c.369G>T (p.Val123=)
|
|
|
NM_001258392.3(CLPB):c.378C>T (p.Cys126=)
|
|
|
NM_001258392.3(CLPB):c.393G>A (p.Pro131=)
|
rs1856631048
|
|
NM_001258392.3(CLPB):c.403+13T>G
|
|
|
NM_001258392.3(CLPB):c.403+14C>T
|
|
|
NM_001258392.3(CLPB):c.403+15T>G
|
|
|
NM_001258392.3(CLPB):c.403+7_403+8del
|
rs754849241
|
|
NM_001258392.3(CLPB):c.404-14C>T
|
|
|
NM_001258392.3(CLPB):c.404-15C>G
|
|
|
NM_001258392.3(CLPB):c.404-17G>A
|
|
|
NM_001258392.3(CLPB):c.404-17G>C
|
|
|
NM_001258392.3(CLPB):c.447A>G (p.Glu149=)
|
rs1856508277
|
|
NM_001258392.3(CLPB):c.450C>A (p.Val150=)
|
rs2135168122
|
|
NM_001258392.3(CLPB):c.513C>G (p.Leu171=)
|
rs1017640223
|
|
NM_001258392.3(CLPB):c.513C>T (p.Leu171=)
|
|
|
NM_001258392.3(CLPB):c.528C>A (p.Ile176=)
|
rs766521266
|
|
NM_001258392.3(CLPB):c.542+13C>A
|
|
|
NM_001258392.3(CLPB):c.542+15T>C
|
|
|
NM_001258392.3(CLPB):c.542+18A>G
|
|
|
NM_001258392.3(CLPB):c.555C>T (p.Val185=)
|
rs770534948
|
|
NM_001258392.3(CLPB):c.646+14G>C
|
|
|
NM_001258392.3(CLPB):c.646+7247C>T
|
|
|
NM_001258392.3(CLPB):c.646+7257G>A
|
|
|
NM_001258392.3(CLPB):c.646+7367del
|
|
|
NM_001258392.3(CLPB):c.646+7369C>T
|
|
|
NM_001258392.3(CLPB):c.646+7372T>C
|
|
|
NM_001258392.3(CLPB):c.646+7375A>G
|
|
|
NM_001258392.3(CLPB):c.646+7G>A
|
rs1854866433
|
|
NM_001258392.3(CLPB):c.647-10G>A
|
rs2135614152
|
|
NM_001258392.3(CLPB):c.654C>T (p.Ile218=)
|
|
|
NM_001258392.3(CLPB):c.663G>A (p.Glu221=)
|
rs571326442
|
|
NM_001258392.3(CLPB):c.669C>T (p.Asp223=)
|
|
|
NM_001258392.3(CLPB):c.759G>A (p.Lys253=)
|
|
|
NM_001258392.3(CLPB):c.775+14T>C
|
|
|
NM_001258392.3(CLPB):c.776-10C>A
|
rs141271919
|
|
NM_001258392.3(CLPB):c.776-13C>A
|
|
|
NM_001258392.3(CLPB):c.776-17C>T
|
rs2135549983
|
|
NM_001258392.3(CLPB):c.776-5G>T
|
rs1253919639
|
|
NM_001258392.3(CLPB):c.780C>T (p.Ala260=)
|
|
|
NM_001258392.3(CLPB):c.795G>A (p.Arg265=)
|
|
|
NM_001258392.3(CLPB):c.816C>T (p.Pro272=)
|
|
|
NM_001258392.3(CLPB):c.837G>A (p.Gly279=)
|
rs2135549683
|
|
NM_001258392.3(CLPB):c.843G>A (p.Val281=)
|
rs2135549653
|
|
NM_001258392.3(CLPB):c.874-10C>G
|
|
|
NM_001258392.3(CLPB):c.874-7C>G
|
|
|
NM_001258392.3(CLPB):c.897T>G (p.Arg299=)
|
|
|
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
|
rs144712077
|
|
NM_001258392.3(CLPB):c.909G>A (p.Glu303=)
|
|
|
NM_001258392.3(CLPB):c.942G>A (p.Lys314=)
|
|
|
NM_001258392.3(CLPB):c.972C>T (p.Ile324=)
|
|
|
NM_001258392.3(CLPB):c.988+14A>T
|
rs2135527417
|
|
NM_001258392.3(CLPB):c.988+16A>G
|
|
|
NM_001258392.3(CLPB):c.989-4G>A
|
|
|
NM_001258392.3(CLPB):c.99C>A (p.Ser33=)
|
rs1277330273
|
|
NM_001258392.3(CLPB):c.99C>G (p.Ser33=)
|
|
|
NM_001258392.3(CLPB):c.9G>A (p.Gly3=)
|
|
|
NM_001271.4(CHD2):c.1008A>G (p.Lys336=)
|
|
|
NM_001271.4(CHD2):c.1011A>G (p.Lys337=)
|
|
|
NM_001271.4(CHD2):c.1032A>G (p.Lys344=)
|
|
|
NM_001271.4(CHD2):c.1052+12A>G
|
|
|
NM_001271.4(CHD2):c.1052+15A>G
|
|
|
NM_001271.4(CHD2):c.1052+16T>C
|
|
|
NM_001271.4(CHD2):c.1052+17G>A
|
|
|
NM_001271.4(CHD2):c.1053-11C>G
|
rs2141790964
|
|
NM_001271.4(CHD2):c.1053-17G>A
|
|
|
NM_001271.4(CHD2):c.1080A>G (p.Val360=)
|
|
|
NM_001271.4(CHD2):c.111G>A (p.Ser37=)
|
|
|
NM_001271.4(CHD2):c.1125A>G (p.Lys375=)
|
|
|
NM_001271.4(CHD2):c.1153+4_1153+7dup
|
|
|
NM_001271.4(CHD2):c.1153+9A>G
|
|
|
NM_001271.4(CHD2):c.1154-3del
|
rs760631104
|
|
NM_001271.4(CHD2):c.1154-5T>A
|
rs767803710
|
|
NM_001271.4(CHD2):c.1155T>C (p.Ala385=)
|
|
|
NM_001271.4(CHD2):c.1164A>G (p.Thr388=)
|
|
|
NM_001271.4(CHD2):c.1198+12A>G
|
|
|
NM_001271.4(CHD2):c.1198+18T>C
|
|
|
NM_001271.4(CHD2):c.1199-12T>A
|
rs1474100681
|
|
NM_001271.4(CHD2):c.1199-20A>T
|
|
|
NM_001271.4(CHD2):c.1199-8T>C
|
rs2141795407
|
|
NM_001271.4(CHD2):c.1203T>A (p.His401Gln)
|
rs1567137019
|
|
NM_001271.4(CHD2):c.1203T>C (p.His401=)
|
rs1567137019
|
|
NM_001271.4(CHD2):c.1225A>C (p.Asn409His)
|
rs531251618
|
|
NM_001271.4(CHD2):c.1260C>G (p.Leu420=)
|
rs772268139
|
|
NM_001271.4(CHD2):c.1272G>A (p.Glu424=)
|
|
|
NM_001271.4(CHD2):c.1284A>G (p.Glu428=)
|
rs2141795543
|
|
NM_001271.4(CHD2):c.1293C>T (p.Ala431=)
|
|
|
NM_001271.4(CHD2):c.1347C>T (p.Asn449=)
|
|
|
NM_001271.4(CHD2):c.1377+12G>T
|
|
|
NM_001271.4(CHD2):c.1377+16G>T
|
rs1182159823
|
|
NM_001271.4(CHD2):c.1378-14C>T
|
|
|
NM_001271.4(CHD2):c.1378-15G>A
|
|
|
NM_001271.4(CHD2):c.1378-15G>C
|
rs2053515097
|
|
NM_001271.4(CHD2):c.1380C>T (p.Ala460=)
|
|
|
NM_001271.4(CHD2):c.1502+18A>G
|
|
|
NM_001271.4(CHD2):c.1502+19G>T
|
|
|
NM_001271.4(CHD2):c.1503-10C>T
|
|
|
NM_001271.4(CHD2):c.1503-19T>C
|
rs1390489313
|
|
NM_001271.4(CHD2):c.1503-20T>C
|
|
|
NM_001271.4(CHD2):c.1521T>G (p.Leu507=)
|
rs2141811515
|
|
NM_001271.4(CHD2):c.1524T>G (p.Ala508=)
|
|
|
NM_001271.4(CHD2):c.1576C>T (p.Leu526=)
|
rs2141811552
|
|
NM_001271.4(CHD2):c.1581C>T (p.Phe527=)
|
rs2053579395
|
|
NM_001271.4(CHD2):c.158C>T (p.Ser53Leu)
|
rs368237024
|
|
NM_001271.4(CHD2):c.159G>T (p.Ser53=)
|
|
|
NM_001271.4(CHD2):c.1602C>T (p.Gly534=)
|
rs2141811584
|
|
NM_001271.4(CHD2):c.1629C>G (p.Ser543=)
|
|
|
NM_001271.4(CHD2):c.1632C>T (p.Thr544=)
|
|
|
NM_001271.4(CHD2):c.1641A>G (p.Ser547=)
|
|
|
NM_001271.4(CHD2):c.1686G>C (p.Val562=)
|
rs2141811679
|
|
NM_001271.4(CHD2):c.1719+18G>T
|
|
|
NM_001271.4(CHD2):c.171T>C (p.Ser57=)
|
rs2053018449
|
|
NM_001271.4(CHD2):c.171T>G (p.Ser57=)
|
|
|
NM_001271.4(CHD2):c.1720-17A>C
|
|
|
NM_001271.4(CHD2):c.1720-17A>G
|
|
|
NM_001271.4(CHD2):c.1720-7C>T
|
|
|
NM_001271.4(CHD2):c.1720-8T>C
|
rs2053606565
|
|
NM_001271.4(CHD2):c.1723C>A (p.Arg575=)
|
|
|
NM_001271.4(CHD2):c.1756A>C (p.Arg586=)
|
rs1596406455
|
|
NM_001271.4(CHD2):c.1759T>C (p.Leu587=)
|
|
|
NM_001271.4(CHD2):c.1771G>A (p.Ala591Thr)
|
rs1060503521
|
|
NM_001271.4(CHD2):c.1791G>A (p.Glu597=)
|
|
|
NM_001271.4(CHD2):c.1809+15T>A
|
|
|
NM_001271.4(CHD2):c.1810-20C>G
|
|
|
NM_001271.4(CHD2):c.1815G>A (p.Val605=)
|
|
|
NM_001271.4(CHD2):c.1836C>G (p.Ala612=)
|
|
|
NM_001271.4(CHD2):c.1881T>C (p.Ser627=)
|
rs2141816554
|
|
NM_001271.4(CHD2):c.1920T>C (p.His640=)
|
rs755517341
|
|
NM_001271.4(CHD2):c.1935G>A (p.Thr645=)
|
rs779686192
|
|
NM_001271.4(CHD2):c.1956C>A (p.Ser652=)
|
|
|
NM_001271.4(CHD2):c.1986T>C (p.Phe662=)
|
|
|
NM_001271.4(CHD2):c.2000+13C>T
|
|
|
NM_001271.4(CHD2):c.2000+15G>C
|
|
|
NM_001271.4(CHD2):c.2000+9C>T
|
|
|
NM_001271.4(CHD2):c.2001-20C>G
|
|
|
NM_001271.4(CHD2):c.2001-5C>G
|
|
|
NM_001271.4(CHD2):c.2019T>C (p.Asp673=)
|
|
|
NM_001271.4(CHD2):c.2043G>T (p.Gly681=)
|
|
|
NM_001271.4(CHD2):c.204C>T (p.Ser68=)
|
|
|
NM_001271.4(CHD2):c.2067T>G (p.Leu689=)
|
|
|
NM_001271.4(CHD2):c.2070T>C (p.His690=)
|
|
|
NM_001271.4(CHD2):c.2076G>T (p.Val692=)
|
|
|
NM_001271.4(CHD2):c.2077C>T (p.Leu693=)
|
|
|
NM_001271.4(CHD2):c.2097G>T (p.Arg699=)
|
|
|
NM_001271.4(CHD2):c.2112T>C (p.Asp704=)
|
|
|
NM_001271.4(CHD2):c.2118G>A (p.Glu706=)
|
rs763045714
|
|
NM_001271.4(CHD2):c.2124C>T (p.Ser708=)
|
|
|
NM_001271.4(CHD2):c.2189+15G>C
|
|
|
NM_001271.4(CHD2):c.2189+19T>C
|
|
|
NM_001271.4(CHD2):c.2189+8C>G
|
rs1486555733
|
|
NM_001271.4(CHD2):c.2189+8C>T
|
rs1486555733
|
|
NM_001271.4(CHD2):c.2189+8_2189+19del
|
|
|
NM_001271.4(CHD2):c.219C>A (p.Ser73=)
|
|
|
NM_001271.4(CHD2):c.2211C>T (p.Tyr737=)
|
|
|
NM_001271.4(CHD2):c.2223C>T (p.Ala741=)
|
|
|
NM_001271.4(CHD2):c.2238C>A (p.Gly746=)
|
|
|
NM_001271.4(CHD2):c.2244A>G (p.Thr748=)
|
rs760029815
|
|
NM_001271.4(CHD2):c.225C>T (p.Ser75=)
|
rs144667627
|
|
NM_001271.4(CHD2):c.2277A>G (p.Lys759=)
|
|
|
NM_001271.4(CHD2):c.2280A>G (p.Lys760=)
|
|
|
NM_001271.4(CHD2):c.2310C>T (p.Pro770=)
|
|
|
NM_001271.4(CHD2):c.231A>C (p.Pro77=)
|
|
|
NM_001271.4(CHD2):c.2337A>C (p.Gly779=)
|
rs138084718
|
|
NM_001271.4(CHD2):c.2349T>C (p.Leu783=)
|
rs1285009362
|
|
NM_001271.4(CHD2):c.234C>T (p.Val78=)
|
|
|
NM_001271.4(CHD2):c.2352+10del
|
rs1596419038
|
|
NM_001271.4(CHD2):c.2352+15A>G
|
|
|
NM_001271.4(CHD2):c.2352+7_2352+9del
|
rs775279701
|
|
NM_001271.4(CHD2):c.2353-15C>T
|
|
|
NM_001271.4(CHD2):c.2353-18T>C
|
|
|
NM_001271.4(CHD2):c.2358C>T (p.Leu786=)
|
rs760012115
|
|
NM_001271.4(CHD2):c.2362A>C (p.Arg788=)
|
|
|
NM_001271.4(CHD2):c.237C>T (p.Leu79=)
|
|
|
NM_001271.4(CHD2):c.2403A>G (p.Thr801=)
|
rs2141836198
|
|
NM_001271.4(CHD2):c.240A>G (p.Pro80=)
|
rs2141746164
|
|
NM_001271.4(CHD2):c.2412A>T (p.Arg804=)
|
rs2141836205
|
|
NM_001271.4(CHD2):c.2418G>A (p.Arg806=)
|
rs1330473840
|
|
NM_001271.4(CHD2):c.245C>G (p.Ala82Gly)
|
rs548561366
|
|
NM_001271.4(CHD2):c.2475A>G (p.Glu825=)
|
|
|
NM_001271.4(CHD2):c.2502C>T (p.Phe834=)
|
rs1461571191
|
|
NM_001271.4(CHD2):c.2505+16T>A
|
|
|
NM_001271.4(CHD2):c.2505+4A>G
|
rs767309501
|
|
NM_001271.4(CHD2):c.2505+9A>G
|
|
|
NM_001271.4(CHD2):c.2506-14G>T
|
|
|
NM_001271.4(CHD2):c.2506-17G>A
|
rs2141839109
|
|
NM_001271.4(CHD2):c.2506-4A>G
|
rs1259027522
|
|
NM_001271.4(CHD2):c.2511G>T (p.Leu837=)
|
rs2053887597
|
|
NM_001271.4(CHD2):c.2535C>A (p.Ile845=)
|
|
|
NM_001271.4(CHD2):c.2544G>A (p.Gln848=)
|
rs2053887752
|
|
NM_001271.4(CHD2):c.2547A>G (p.Ala849=)
|
rs1596423292
|
|
NM_001271.4(CHD2):c.2571G>A (p.Gly857=)
|
rs2141839178
|
|
NM_001271.4(CHD2):c.2577+15G>A
|
|
|
NM_001271.4(CHD2):c.2577+7T>G
|
|
|
NM_001271.4(CHD2):c.2577+8A>G
|
rs867398061
|
|
NM_001271.4(CHD2):c.2577+9T>C
|
|
|
NM_001271.4(CHD2):c.2592G>A (p.Leu864=)
|
rs2141843178
|
|
NM_001271.4(CHD2):c.2595C>G (p.Leu865=)
|
rs1478427410
|
|
NM_001271.4(CHD2):c.2614C>T (p.Leu872=)
|
rs2141843184
|
|
NM_001271.4(CHD2):c.2628G>A (p.Leu876=)
|
|
|
NM_001271.4(CHD2):c.2646C>T (p.Val882=)
|
|
|
NM_001271.4(CHD2):c.2682C>T (p.Asp894=)
|
|
|
NM_001271.4(CHD2):c.2700A>G (p.Arg900=)
|
|
|
NM_001271.4(CHD2):c.2727+16C>T
|
|
|
NM_001271.4(CHD2):c.2727+20T>A
|
|
|
NM_001271.4(CHD2):c.2727+7A>G
|
rs1408693780
|
|
NM_001271.4(CHD2):c.2727+9G>A
|
rs1245946446
|
|
NM_001271.4(CHD2):c.2728-12del
|
|
|
NM_001271.4(CHD2):c.2728-13C>A
|
|
|
NM_001271.4(CHD2):c.2728-20A>T
|
|
|
NM_001271.4(CHD2):c.2728-8T>C
|
rs762774089
|
|
NM_001271.4(CHD2):c.2743T>C (p.Leu915=)
|
rs112279925
|
|
NM_001271.4(CHD2):c.2847G>A (p.Thr949=)
|
rs756812749
|
|
NM_001271.4(CHD2):c.2876+10A>G
|
rs2053946994
|
|
NM_001271.4(CHD2):c.2876+7G>T
|
rs2141844294
|
|
NM_001271.4(CHD2):c.2877-17A>G
|
rs764609850
|
|
NM_001271.4(CHD2):c.2877-4A>G
|
|
|
NM_001271.4(CHD2):c.2877-5C>T
|
rs1248829265
|
|
NM_001271.4(CHD2):c.294+19A>G
|
|
|
NM_001271.4(CHD2):c.294+20G>A
|
|
|
NM_001271.4(CHD2):c.294+7A>G
|
rs1351696136
|
|
NM_001271.4(CHD2):c.295-12_295-11del
|
|
|
NM_001271.4(CHD2):c.2955G>C (p.Gly985=)
|
|
|
NM_001271.4(CHD2):c.2973+18_2973+23del
|
|
|
NM_001271.4(CHD2):c.2973+8A>T
|
|
|
NM_001271.4(CHD2):c.2973+9C>T
|
rs1596431717
|
|
NM_001271.4(CHD2):c.2974-10G>A
|
|
|
NM_001271.4(CHD2):c.2974-4T>C
|
|
|
NM_001271.4(CHD2):c.2982T>C (p.Asp994=)
|
rs372974686
|
|
NM_001271.4(CHD2):c.2998C>T (p.Arg1000Trp)
|
rs758134774
|
|
NM_001271.4(CHD2):c.3000G>A (p.Arg1000=)
|
|
|
NM_001271.4(CHD2):c.3021T>C (p.Asn1007=)
|
rs2141847120
|
|
NM_001271.4(CHD2):c.3036T>C (p.Ser1012=)
|
rs768946382
|
|
NM_001271.4(CHD2):c.3066+19G>A
|
|
|
NM_001271.4(CHD2):c.3066+20A>G
|
rs946119641
|
|
NM_001271.4(CHD2):c.3067-10C>G
|
rs2141850547
|
|
NM_001271.4(CHD2):c.3078T>C (p.Phe1026=)
|
rs2141850566
|
|
NM_001271.4(CHD2):c.3111G>A (p.Glu1037=)
|
rs2141850590
|
|
NM_001271.4(CHD2):c.3126C>G (p.Asp1042Glu)
|
rs150268140
|
|
NM_001271.4(CHD2):c.3153A>G (p.Gln1051=)
|
rs1312097410
|
|
NM_001271.4(CHD2):c.3165A>G (p.Val1055=)
|
rs758991890
|
|
NM_001271.4(CHD2):c.3168G>A (p.Glu1056=)
|
rs1555443360
|
|
NM_001271.4(CHD2):c.3168G>T (p.Glu1056Asp)
|
rs1555443360
|
|
NM_001271.4(CHD2):c.3237+19A>G
|
|
|
NM_001271.4(CHD2):c.3237+20G>A
|
|
|
NM_001271.4(CHD2):c.3238-12G>A
|
rs1276545339
|
|
NM_001271.4(CHD2):c.3238-16C>T
|
rs2054030766
|
|
NM_001271.4(CHD2):c.3238-5C>T
|
rs1555443468
|
|
NM_001271.4(CHD2):c.3264C>T (p.Asp1088=)
|
|
|
NM_001271.4(CHD2):c.3265A>C (p.Thr1089Pro)
|
rs1596437938
|
|
NM_001271.4(CHD2):c.3285C>G (p.Ala1095=)
|
|
|
NM_001271.4(CHD2):c.3298G>C (p.Ala1100Pro)
|
|
|
NM_001271.4(CHD2):c.3303T>C (p.Ser1101=)
|
|
|
NM_001271.4(CHD2):c.3306G>A (p.Glu1102=)
|
|
|
NM_001271.4(CHD2):c.3314C>T (p.Thr1105Met)
|
rs1567152717
|
|
NM_001271.4(CHD2):c.331C>A (p.Arg111=)
|
rs1040550014
|
|
NM_001271.4(CHD2):c.3333C>T (p.Asp1111=)
|
|
|
NM_001271.4(CHD2):c.3345G>A (p.Lys1115=)
|
rs2054031847
|
|
NM_001271.4(CHD2):c.3360G>A (p.Pro1120=)
|
|
|
NM_001271.4(CHD2):c.3381C>T (p.Leu1127=)
|
|
|
NM_001271.4(CHD2):c.3387G>A (p.Glu1129=)
|
|
|
NM_001271.4(CHD2):c.3413+13T>A
|
|
|
NM_001271.4(CHD2):c.3413+16G>T
|
|
|
NM_001271.4(CHD2):c.3414-11C>T
|
rs2054119012
|
|
NM_001271.4(CHD2):c.3414-20T>C
|
|
|
NM_001271.4(CHD2):c.3414-5C>T
|
|
|
NM_001271.4(CHD2):c.3414-5_3414-3del
|
|
|
NM_001271.4(CHD2):c.3417C>T (p.Phe1139=)
|
|
|
NM_001271.4(CHD2):c.3455+11T>C
|
rs2141859897
|
|
NM_001271.4(CHD2):c.3455+12G>A
|
|
|
NM_001271.4(CHD2):c.3455+9A>G
|
rs199958087
|
|
NM_001271.4(CHD2):c.3456-15T>C
|
|
|
NM_001271.4(CHD2):c.3456-19C>G
|
rs780531827
|
|
NM_001271.4(CHD2):c.3456-8C>T
|
rs1394301788
|
|
NM_001271.4(CHD2):c.346A>C (p.Arg116=)
|
|
|
NM_001271.4(CHD2):c.3471A>G (p.Ala1157=)
|
|
|
NM_001271.4(CHD2):c.3486G>A (p.Leu1162=)
|
rs1229609376
|
|
NM_001271.4(CHD2):c.3486G>C (p.Leu1162=)
|
|
|
NM_001271.4(CHD2):c.3519G>C (p.Leu1173=)
|
rs377400826
|
|
NM_001271.4(CHD2):c.3522T>C (p.Gly1174=)
|
|
|
NM_001271.4(CHD2):c.3526C>T (p.Leu1176=)
|
|
|
NM_001271.4(CHD2):c.3537C>T (p.Asn1179=)
|
|
|
NM_001271.4(CHD2):c.3549A>G (p.Ser1183=)
|
|
|
NM_001271.4(CHD2):c.3576G>A (p.Leu1192=)
|
|
|
NM_001271.4(CHD2):c.3579A>G (p.Lys1193=)
|
rs2141861699
|
|
NM_001271.4(CHD2):c.3595+14G>A
|
|
|
NM_001271.4(CHD2):c.3595+9A>G
|
|
|
NM_001271.4(CHD2):c.3596-10T>C
|
|
|
NM_001271.4(CHD2):c.3596-10T>G
|
rs1596446956
|
|
NM_001271.4(CHD2):c.3596-6T>C
|
|
|
NM_001271.4(CHD2):c.3606A>G (p.Pro1202=)
|
rs2054196905
|
|
NM_001271.4(CHD2):c.360G>A (p.Ser120=)
|
rs1409764161
|
|
NM_001271.4(CHD2):c.3613A>C (p.Arg1205=)
|
|
|
NM_001271.4(CHD2):c.3684G>A (p.Glu1228=)
|
rs766134171
|
|
NM_001271.4(CHD2):c.3687T>C (p.Phe1229=)
|
|
|
NM_001271.4(CHD2):c.3698A>G (p.His1233Arg)
|
rs2054197477
|
|
NM_001271.4(CHD2):c.3705T>C (p.Ser1235=)
|
|
|
NM_001271.4(CHD2):c.3708C>T (p.Ile1236=)
|
rs2054197617
|
|
NM_001271.4(CHD2):c.3729A>G (p.Lys1243=)
|
rs2054197942
|
|
NM_001271.4(CHD2):c.3732A>G (p.Lys1244=)
|
|
|
NM_001271.4(CHD2):c.3734+20A>C
|
|
|
NM_001271.4(CHD2):c.3734+9A>G
|
|
|
NM_001271.4(CHD2):c.3735-10C>T
|
|
|
NM_001271.4(CHD2):c.3735-11A>C
|
|
|
NM_001271.4(CHD2):c.3735-18T>C
|
|
|
NM_001271.4(CHD2):c.3738C>T (p.Tyr1246=)
|
rs2054200384
|
|
NM_001271.4(CHD2):c.3801T>C (p.Ser1267=)
|
|
|
NM_001271.4(CHD2):c.3805C>T (p.Leu1269=)
|
|
|
NM_001271.4(CHD2):c.3807G>A (p.Leu1269=)
|
rs1040196048
|
|
NM_001271.4(CHD2):c.3807G>T (p.Leu1269=)
|
rs1040196048
|
|
NM_001271.4(CHD2):c.381+11A>T
|
rs2141752541
|
|
NM_001271.4(CHD2):c.381+12A>G
|
|
|
NM_001271.4(CHD2):c.381+12del
|
rs778998281
|
|
NM_001271.4(CHD2):c.381+14G>C
|
|
|
NM_001271.4(CHD2):c.3811C>T (p.Leu1271=)
|
|
|
NM_001271.4(CHD2):c.382-12C>G
|
|
|
NM_001271.4(CHD2):c.382-14del
|
|
|
NM_001271.4(CHD2):c.382-17C>T
|
|
|
NM_001271.4(CHD2):c.382-20T>C
|
rs2141755276
|
|
NM_001271.4(CHD2):c.382-9A>C
|
rs1555437848
|
|
NM_001271.4(CHD2):c.3879T>A (p.Thr1293=)
|
rs2054201169
|
|
NM_001271.4(CHD2):c.3885+16A>G
|
|
|
NM_001271.4(CHD2):c.3885+9C>T
|
|
|
NM_001271.4(CHD2):c.3886-10C>T
|
|
|
NM_001271.4(CHD2):c.3886-11dup
|
|
|
NM_001271.4(CHD2):c.3886-9T>C
|
|
|
NM_001271.4(CHD2):c.3891G>C (p.Leu1297=)
|
|
|
NM_001271.4(CHD2):c.3897G>T (p.Val1299=)
|
rs2141868862
|
|
NM_001271.4(CHD2):c.3903A>G (p.Thr1301=)
|
rs200766577
|
|
NM_001271.4(CHD2):c.3936C>G (p.Thr1312=)
|
|
|
NM_001271.4(CHD2):c.3942G>A (p.Ala1314=)
|
|
|
NM_001271.4(CHD2):c.3958C>T (p.Leu1320=)
|
rs2141868909
|
|
NM_001271.4(CHD2):c.4008+10C>A
|
|
|
NM_001271.4(CHD2):c.4008+16G>T
|
|
|
NM_001271.4(CHD2):c.4008+17C>G
|
rs2141868997
|
|
NM_001271.4(CHD2):c.4008+19G>C
|
|
|
NM_001271.4(CHD2):c.4008+9G>A
|
|
|
NM_001271.4(CHD2):c.4008+9G>C
|
rs369142709
|
|
NM_001271.4(CHD2):c.4008+9G>T
|
rs369142709
|
|
NM_001271.4(CHD2):c.4009-19A>C
|
rs2141871654
|
|
NM_001271.4(CHD2):c.4009-19A>G
|
rs2141871654
|
|
NM_001271.4(CHD2):c.4034G>A (p.Arg1345Gln)
|
rs751507887
|
|
NM_001271.4(CHD2):c.4035G>A (p.Arg1345=)
|
|
|
NM_001271.4(CHD2):c.4038A>G (p.Val1346=)
|
|
|
NM_001271.4(CHD2):c.4067A>G (p.Lys1356Arg)
|
|
|
NM_001271.4(CHD2):c.4074G>A (p.Glu1358=)
|
|
|
NM_001271.4(CHD2):c.4089T>G (p.Leu1363=)
|
rs2141871747
|
|
NM_001271.4(CHD2):c.4095T>C (p.Ser1365=)
|
rs777131411
|
|
NM_001271.4(CHD2):c.4099A>C (p.Arg1367=)
|
|
|
NM_001271.4(CHD2):c.4125G>A (p.Glu1375=)
|
rs2054242561
|
|
NM_001271.4(CHD2):c.4138-11T>C
|
|
|
NM_001271.4(CHD2):c.4138-18C>T
|
rs775111839
|
|
NM_001271.4(CHD2):c.4138-19_4138-18delinsTA
|
rs1555444947
|
|
NM_001271.4(CHD2):c.4188G>A (p.Glu1396=)
|
|
|
NM_001271.4(CHD2):c.4191CAAGGAGAA[1] (p.1397NKE[1])
|
rs779732210
|
|
NM_001271.4(CHD2):c.4257G>A (p.Lys1419=)
|
rs1318336358
|
|
NM_001271.4(CHD2):c.4260A>C (p.Ser1420=)
|
rs760422132
|
|
NM_001271.4(CHD2):c.4260A>G (p.Ser1420=)
|
rs760422132
|
|
NM_001271.4(CHD2):c.4278+20C>G
|
rs762068313
|
|
NM_001271.4(CHD2):c.4278+4ATG[3]
|
rs780977518
|
|
NM_001271.4(CHD2):c.4278+7A>T
|
rs1000622773
|
|
NM_001271.4(CHD2):c.4279-12C>G
|
|
|
NM_001271.4(CHD2):c.4296C>G (p.Ala1432=)
|
rs1596452047
|
|
NM_001271.4(CHD2):c.42G>C (p.Ser14=)
|
|
|
NM_001271.4(CHD2):c.4305G>A (p.Ser1435=)
|
|
|
NM_001271.4(CHD2):c.4371A>T (p.Gly1457=)
|
|
|
NM_001271.4(CHD2):c.4413+13A>T
|
|
|
NM_001271.4(CHD2):c.4413+15C>G
|
|
|
NM_001271.4(CHD2):c.4413+18G>A
|
rs1331622431
|
|
NM_001271.4(CHD2):c.4413+19G>C
|
rs376928152
|
|
NM_001271.4(CHD2):c.4413+20G>A
|
|
|
NM_001271.4(CHD2):c.4414-14T>C
|
|
|
NM_001271.4(CHD2):c.4414-17C>A
|
rs2054359181
|
|
NM_001271.4(CHD2):c.4414-19C>G
|
|
|
NM_001271.4(CHD2):c.443+16G>A
|
|
|
NM_001271.4(CHD2):c.443+20A>G
|
|
|
NM_001271.4(CHD2):c.4434C>T (p.Pro1478=)
|
rs199572989
|
|
NM_001271.4(CHD2):c.444-4A>C
|
rs369479687
|
|
NM_001271.4(CHD2):c.444-4A>G
|
rs369479687
|
|
NM_001271.4(CHD2):c.4440A>G (p.Lys1480=)
|
|
|
NM_001271.4(CHD2):c.4470C>T (p.Asp1490=)
|
|
|
NM_001271.4(CHD2):c.4476G>A (p.Gly1492=)
|
|
|
NM_001271.4(CHD2):c.4497G>A (p.Leu1499=)
|
|
|
NM_001271.4(CHD2):c.4503C>T (p.His1501=)
|
rs2054360183
|
|
NM_001271.4(CHD2):c.4505C>G (p.Thr1502Ser)
|
rs956620619
|
|
NM_001271.4(CHD2):c.4516C>T (p.Leu1506=)
|
|
|
NM_001271.4(CHD2):c.4557C>G (p.Ala1519=)
|
rs138253997
|
|
NM_001271.4(CHD2):c.4560C>T (p.Tyr1520=)
|
rs1596454969
|
|
NM_001271.4(CHD2):c.456A>G (p.Lys152=)
|
rs2141773450
|
|
NM_001271.4(CHD2):c.4578C>A (p.Ile1526=)
|
|
|
NM_001271.4(CHD2):c.4578C>T (p.Ile1526=)
|
rs143876394
|
|
NM_001271.4(CHD2):c.4584C>A (p.Leu1528=)
|
|
|
NM_001271.4(CHD2):c.4584C>T (p.Leu1528=)
|
rs543526502
|
|
NM_001271.4(CHD2):c.4592+11T>G
|
|
|
NM_001271.4(CHD2):c.4592+7A>C
|
|
|
NM_001271.4(CHD2):c.4593-14A>C
|
|
|
NM_001271.4(CHD2):c.4593-14A>G
|
|
|
NM_001271.4(CHD2):c.4593-4T>G
|
rs2141885411
|
|
NM_001271.4(CHD2):c.45A>G (p.Leu15=)
|
rs1009840698
|
|
NM_001271.4(CHD2):c.4626A>G (p.Glu1542=)
|
rs2054404334
|
|
NM_001271.4(CHD2):c.462A>G (p.Glu154=)
|
|
|
NM_001271.4(CHD2):c.4653A>G (p.Leu1551=)
|
|
|
NM_001271.4(CHD2):c.4675A>C (p.Arg1559=)
|
rs2141885460
|
|
NM_001271.4(CHD2):c.4692+20del
|
|
|
NM_001271.4(CHD2):c.4693-19G>C
|
|
|
NM_001271.4(CHD2):c.4716G>T (p.Val1572=)
|
rs2141888143
|
|
NM_001271.4(CHD2):c.4719T>G (p.Thr1573=)
|
rs2054436203
|
|
NM_001271.4(CHD2):c.4721G>A (p.Gly1574Glu)
|
rs56227200
|
|
NM_001271.4(CHD2):c.4727A>G (p.Lys1576Arg)
|
rs2141888165
|
|
NM_001271.4(CHD2):c.4728G>A (p.Lys1576=)
|
|
|
NM_001271.4(CHD2):c.4749C>T (p.Ala1583=)
|
rs1183396141
|
|
NM_001271.4(CHD2):c.4758C>T (p.Ser1586=)
|
|
|
NM_001271.4(CHD2):c.477A>G (p.Glu159=)
|
rs2141773476
|
|
NM_001271.4(CHD2):c.4797C>T (p.His1599=)
|
rs1596458228
|
|
NM_001271.4(CHD2):c.4822T>C (p.Leu1608=)
|
rs201452886
|
|
NM_001271.4(CHD2):c.4840C>A (p.Pro1614Thr)
|
|
|
NM_001271.4(CHD2):c.4842A>G (p.Pro1614=)
|
|
|
NM_001271.4(CHD2):c.4845G>A (p.Gln1615=)
|
rs1427359303
|
|
NM_001271.4(CHD2):c.4866T>C (p.Asp1622=)
|
rs2141888326
|
|
NM_001271.4(CHD2):c.486A>G (p.Gln162=)
|
|
|
NM_001271.4(CHD2):c.4890A>G (p.Arg1630=)
|
rs1596458291
|
|
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile)
|
rs761860129
|
|
NM_001271.4(CHD2):c.4906+16dup
|
|
|
NM_001271.4(CHD2):c.4906+19T>C
|
|
|
NM_001271.4(CHD2):c.4906+7C>T
|
|
|
NM_001271.4(CHD2):c.4907-12_4907-9del
|
rs764356498
|
|
NM_001271.4(CHD2):c.4907-13T>A
|
|
|
NM_001271.4(CHD2):c.4907-13dup
|
rs1343290835
|
|
NM_001271.4(CHD2):c.4907-16C>G
|
|
|
NM_001271.4(CHD2):c.4907-7C>T
|
|
|
NM_001271.4(CHD2):c.4926G>A (p.Arg1642=)
|
rs2141895125
|
|
NM_001271.4(CHD2):c.4938C>T (p.Phe1646=)
|
|
|
NM_001271.4(CHD2):c.4945G>A (p.Gly1649Ser)
|
rs781717447
|
|
NM_001271.4(CHD2):c.4958A>G (p.Asn1653Ser)
|
rs2054514401
|
|
NM_001271.4(CHD2):c.4968A>T (p.Pro1656=)
|
|
|
NM_001271.4(CHD2):c.5004C>T (p.His1668=)
|
rs770874614
|
|
NM_001271.4(CHD2):c.5010C>T (p.Tyr1670=)
|
rs369883738
|
|
NM_001271.4(CHD2):c.5016C>T (p.Asp1672=)
|
|
|
NM_001271.4(CHD2):c.5025T>C (p.Tyr1675=)
|
|
|
NM_001271.4(CHD2):c.5051A>G (p.His1684Arg)
|
rs770784804
|
|
NM_001271.4(CHD2):c.5058C>G (p.Ser1686=)
|
|
|
NM_001271.4(CHD2):c.5063_5064delinsAT (p.Ser1688Asn)
|
rs1555446342
|
|
NM_001271.4(CHD2):c.5078A>G (p.Asn1693Ser)
|
rs764702103
|
|
NM_001271.4(CHD2):c.5103C>T (p.Asp1701=)
|
|
|
NM_001271.4(CHD2):c.5109C>T (p.Tyr1703=)
|
rs2141895374
|
|
NM_001271.4(CHD2):c.5136C>T (p.His1712=)
|
|
|
NM_001271.4(CHD2):c.5146T>G (p.Tyr1716Asp)
|
rs1555446358
|
|
NM_001271.4(CHD2):c.5153+13C>T
|
rs2141895433
|
|
NM_001271.4(CHD2):c.5153+15G>A
|
|
|
NM_001271.4(CHD2):c.5153+20A>G
|
|
|
NM_001271.4(CHD2):c.5153+8A>G
|
rs1032969529
|
|
NM_001271.4(CHD2):c.5154-12T>C
|
rs2141761261
|
|
NM_001271.4(CHD2):c.5154-9_5154-8del
|
|
|
NM_001271.4(CHD2):c.5163T>C (p.His1721=)
|
|
|
NM_001271.4(CHD2):c.5174G>A (p.Arg1725Gln)
|
rs1240488615
|
|
NM_001271.4(CHD2):c.5199T>G (p.Pro1733=)
|
|
|
NM_001271.4(CHD2):c.5202A>G (p.Gln1734=)
|
|
|
NM_001271.4(CHD2):c.5228G>A (p.Arg1743Gln)
|
rs1230076038
|
|
NM_001271.4(CHD2):c.5274C>T (p.Pro1758=)
|
|
|
NM_001271.4(CHD2):c.5279A>G (p.Asp1760Gly)
|
rs1596463935
|
|
NM_001271.4(CHD2):c.5343C>T (p.His1781=)
|
rs190327730
|
|
NM_001271.4(CHD2):c.5406C>T (p.Pro1802=)
|
rs1567168673
|
|
NM_001271.4(CHD2):c.5454C>T (p.Asn1818=)
|
|
|
NM_001271.4(CHD2):c.551+17A>C
|
|
|
NM_001271.4(CHD2):c.551+8G>A
|
|
|
NM_001271.4(CHD2):c.552-10C>G
|
|
|
NM_001271.4(CHD2):c.552-9T>C
|
|
|
NM_001271.4(CHD2):c.555A>G (p.Thr185=)
|
|
|
NM_001271.4(CHD2):c.558G>A (p.Val186=)
|
rs766588440
|
|
NM_001271.4(CHD2):c.57A>G (p.Ala19=)
|
rs1412598141
|
|
NM_001271.4(CHD2):c.588G>A (p.Lys196=)
|
|
|
NM_001271.4(CHD2):c.595C>A (p.Arg199Ser)
|
rs764705223
|
|
NM_001271.4(CHD2):c.596G>C (p.Arg199Pro)
|
rs367550855
|
|
NM_001271.4(CHD2):c.59C>T (p.Ser20Leu)
|
rs1057524801
|
|
NM_001271.4(CHD2):c.615A>G (p.Gln205=)
|
|
|
NM_001271.4(CHD2):c.62+18_62+21del
|
|
|
NM_001271.4(CHD2):c.62+19C>T
|
|
|
NM_001271.4(CHD2):c.62+22_62+25del
|
|
|
NM_001271.4(CHD2):c.624T>G (p.Ser208=)
|
|
|
NM_001271.4(CHD2):c.63-17C>G
|
|
|
NM_001271.4(CHD2):c.63-19C>G
|
|
|
NM_001271.4(CHD2):c.63-22TC[5]
|
rs749583665
|
|
NM_001271.4(CHD2):c.642T>C (p.Asp214=)
|
rs2053325593
|
|
NM_001271.4(CHD2):c.648A>G (p.Glu216=)
|
|
|
NM_001271.4(CHD2):c.669T>G (p.Arg223=)
|
|
|
NM_001271.4(CHD2):c.66C>T (p.His22=)
|
rs2141745833
|
|
NM_001271.4(CHD2):c.678G>A (p.Ala226=)
|
|
|
NM_001271.4(CHD2):c.678G>T (p.Ala226=)
|
|
|
NM_001271.4(CHD2):c.692+10A>G
|
rs370469675
|
|
NM_001271.4(CHD2):c.692+16G>A
|
rs2141778590
|
|
NM_001271.4(CHD2):c.692+20T>G
|
|
|
NM_001271.4(CHD2):c.692+8G>A
|
|
|
NM_001271.4(CHD2):c.693-10C>T
|
rs374771910
|
|
NM_001271.4(CHD2):c.708T>C (p.Asp236=)
|
|
|
NM_001271.4(CHD2):c.720T>A (p.Thr240=)
|
rs762283261
|
|
NM_001271.4(CHD2):c.720T>C (p.Thr240=)
|
rs762283261
|
|
NM_001271.4(CHD2):c.777T>C (p.Asn259=)
|
|
|
NM_001271.4(CHD2):c.813G>A (p.Leu271=)
|
rs907174346
|
|
NM_001271.4(CHD2):c.826+14G>C
|
|
|
NM_001271.4(CHD2):c.827-10C>G
|
rs2141787300
|
|
NM_001271.4(CHD2):c.827-15T>G
|
|
|
NM_001271.4(CHD2):c.846T>C (p.Thr282=)
|
|
|
NM_001271.4(CHD2):c.846T>G (p.Thr282=)
|
rs763813072
|
|
NM_001271.4(CHD2):c.849A>T (p.Val283=)
|
|
|
NM_001271.4(CHD2):c.855G>C (p.Ala285=)
|
rs138796857
|
|
NM_001271.4(CHD2):c.930G>A (p.Lys310=)
|
rs1318106648
|
|
NM_001271.4(CHD2):c.948C>T (p.Tyr316=)
|
|
|
NM_001271.4(CHD2):c.951C>T (p.Ile317=)
|
|
|
NM_001271.4(CHD2):c.978C>G (p.Ser326=)
|
rs2141787594
|
|
NM_001271.4(CHD2):c.981A>G (p.Leu327=)
|
|
|
NM_001271.4(CHD2):c.99A>G (p.Ser33=)
|
|
|
NM_001278293.3(ARL6):c.123+12T>C
|
|
|
NM_001278293.3(ARL6):c.123+19T>C
|
|
|
NM_001278293.3(ARL6):c.123+19T>G
|
|
|
NM_001278293.3(ARL6):c.124-13T>G
|
|
|
NM_001278293.3(ARL6):c.124-16G>A
|
|
|
NM_001278293.3(ARL6):c.124-16G>T
|
|
|
NM_001278293.3(ARL6):c.124-17T>C
|
|
|
NM_001278293.3(ARL6):c.124-20C>G
|
|
|
NM_001278293.3(ARL6):c.126T>G (p.Ala42=)
|
|
|
NM_001278293.3(ARL6):c.129A>G (p.Gln43=)
|
|
|
NM_001278293.3(ARL6):c.141C>T (p.Ile47=)
|
|
|
NM_001278293.3(ARL6):c.150A>C (p.Thr50=)
|
|
|
NM_001278293.3(ARL6):c.153A>C (p.Ile51=)
|
|
|
NM_001278293.3(ARL6):c.185+15C>G
|
|
|
NM_001278293.3(ARL6):c.185+15C>T
|
|
|
NM_001278293.3(ARL6):c.185+16C>T
|
|
|
NM_001278293.3(ARL6):c.185+7C>A
|
|
|
NM_001278293.3(ARL6):c.186-5T>G
|
|
|
NM_001278293.3(ARL6):c.201G>C (p.Val67=)
|
rs2108034087
|
|
NM_001278293.3(ARL6):c.207C>T (p.Asp69=)
|
|
|
NM_001278293.3(ARL6):c.213A>T (p.Ser71=)
|
|
|
NM_001278293.3(ARL6):c.249T>C (p.Tyr83=)
|
rs888140182
|
|
NM_001278293.3(ARL6):c.24A>C (p.Ser8=)
|
|
|
NM_001278293.3(ARL6):c.254+12T>A
|
|
|
NM_001278293.3(ARL6):c.254+13G>A
|
|
|
NM_001278293.3(ARL6):c.254+7A>G
|
|
|
NM_001278293.3(ARL6):c.254+9A>C
|
|
|
NM_001278293.3(ARL6):c.255-10C>T
|
|
|
NM_001278293.3(ARL6):c.255-15C>A
|
|
|
NM_001278293.3(ARL6):c.255-16T>C
|
|
|
NM_001278293.3(ARL6):c.255-17T>G
|
|
|
NM_001278293.3(ARL6):c.255-5C>T
|
|
|
NM_001278293.3(ARL6):c.255-6A>T
|
|
|
NM_001278293.3(ARL6):c.255-7del
|
|
|
NM_001278293.3(ARL6):c.261C>G (p.Gly87=)
|
|
|
NM_001278293.3(ARL6):c.267T>A (p.Ala89=)
|
|
|
NM_001278293.3(ARL6):c.28T>C (p.Leu10=)
|
|
|
NM_001278293.3(ARL6):c.298T>C (p.Leu100=)
|
|
|
NM_001278293.3(ARL6):c.300A>G (p.Leu100=)
|
|
|
NM_001278293.3(ARL6):c.327C>T (p.Leu109=)
|
|
|
NM_001278293.3(ARL6):c.330T>C (p.Asp110=)
|
|
|
NM_001278293.3(ARL6):c.336T>G (p.Leu112=)
|
|
|
NM_001278293.3(ARL6):c.348A>G (p.Pro116=)
|
rs2108053948
|
|
NM_001278293.3(ARL6):c.349+19G>A
|
|
|
NM_001278293.3(ARL6):c.349+7G>A
|
|
|
NM_001278293.3(ARL6):c.350-14A>G
|
|
|
NM_001278293.3(ARL6):c.350-14_350-12del
|
|
|
NM_001278293.3(ARL6):c.350-18T>C
|
|
|
NM_001278293.3(ARL6):c.350-20A>G
|
|
|
NM_001278293.3(ARL6):c.350-6T>G
|
|
|
NM_001278293.3(ARL6):c.350-7_350-6del
|
|
|
NM_001278293.3(ARL6):c.350-8T>C
|
rs2108067599
|
|
NM_001278293.3(ARL6):c.350-9C>T
|
|
|
NM_001278293.3(ARL6):c.360C>T (p.His120=)
|
|
|
NM_001278293.3(ARL6):c.384T>C (p.Phe128=)
|
|
|
NM_001278293.3(ARL6):c.414G>C (p.Val138=)
|
|
|
NM_001278293.3(ARL6):c.432T>C (p.Ser144=)
|
|
|
NM_001278293.3(ARL6):c.438G>A (p.Leu146=)
|
|
|
NM_001278293.3(ARL6):c.468C>A (p.Pro156=)
|
|
|
NM_001278293.3(ARL6):c.474T>C (p.His158=)
|
|
|
NM_001278293.3(ARL6):c.479+13A>G
|
|
|
NM_001278293.3(ARL6):c.479+14T>C
|
|
|
NM_001278293.3(ARL6):c.479+17_479+20del
|
rs759965769
|
|
NM_001278293.3(ARL6):c.480-10T>A
|
|
|
NM_001278293.3(ARL6):c.480-12A>T
|
|
|
NM_001278293.3(ARL6):c.480-13G>A
|
|
|
NM_001278293.3(ARL6):c.480-15T>C
|
|
|
NM_001278293.3(ARL6):c.480-16A>G
|
|
|
NM_001278293.3(ARL6):c.480-20T>C
|
|
|
NM_001278293.3(ARL6):c.483T>C (p.Ala161=)
|
|
|
NM_001278293.3(ARL6):c.510G>A (p.Leu170=)
|
|
|
NM_001278293.3(ARL6):c.535+11A>G
|
rs1186132444
|
|
NM_001278293.3(ARL6):c.535+16C>A
|
|
|
NM_001278293.3(ARL6):c.535+8A>G
|
rs2037753193
|
|
NM_001278293.3(ARL6):c.536-15_536-12del
|
|
|
NM_001278293.3(ARL6):c.536-8G>A
|
rs748740752
|
|
NM_001278293.3(ARL6):c.558A>G (p.Thr186=)
|
|
|
NM_001278293.3(ARL6):c.61T>C (p.Leu21=)
|
|
|
NM_001278293.3(ARL6):c.75A>G (p.Leu25=)
|
|
|
NM_001278293.3(ARL6):c.81T>C (p.Asn27=)
|
|
|
NM_001352514.2(HLCS):c.1011G>A (p.Val337=)
|
|
|
NM_001352514.2(HLCS):c.1017T>C (p.Ile339=)
|
|
|
NM_001352514.2(HLCS):c.1026T>C (p.Tyr342=)
|
|
|
NM_001352514.2(HLCS):c.1029T>C (p.Ile343=)
|
|
|
NM_001352514.2(HLCS):c.1032C>A (p.Leu344=)
|
rs2066910824
|
|
NM_001352514.2(HLCS):c.1035C>T (p.Tyr345=)
|
|
|
NM_001352514.2(HLCS):c.1044G>A (p.Leu348=)
|
|
|
NM_001352514.2(HLCS):c.1059C>G (p.Leu353=)
|
rs765699943
|
|
NM_001352514.2(HLCS):c.1065C>T (p.Asp355=)
|
|
|
NM_001352514.2(HLCS):c.1068G>C (p.Pro356=)
|
|
|
NM_001352514.2(HLCS):c.1077C>T (p.Asp359=)
|
|
|
NM_001352514.2(HLCS):c.1084C>T (p.Leu362=)
|
rs1459880908
|
|
NM_001352514.2(HLCS):c.1104C>G (p.Thr368=)
|
|
|
NM_001352514.2(HLCS):c.1107G>A (p.Arg369=)
|
rs2146525599
|
|
NM_001352514.2(HLCS):c.1110G>A (p.Glu370=)
|
|
|
NM_001352514.2(HLCS):c.1119C>A (p.Pro373=)
|
|
|
NM_001352514.2(HLCS):c.1119C>G (p.Pro373=)
|
rs768927843
|
|
NM_001352514.2(HLCS):c.1122A>G (p.Glu374=)
|
rs780469041
|
|
NM_001352514.2(HLCS):c.1126C>T (p.Leu376=)
|
rs1450990152
|
|
NM_001352514.2(HLCS):c.1128G>A (p.Leu376=)
|
rs1199413324
|
|
NM_001352514.2(HLCS):c.1134G>A (p.Gln378=)
|
|
|
NM_001352514.2(HLCS):c.1137G>A (p.Lys379=)
|
|
|
NM_001352514.2(HLCS):c.1140C>T (p.Phe380=)
|
rs2066903072
|
|
NM_001352514.2(HLCS):c.1161A>G (p.Gly387=)
|
|
|
NM_001352514.2(HLCS):c.1167G>A (p.Lys389=)
|
rs1057523540
|
|
NM_001352514.2(HLCS):c.1182T>C (p.Ser394=)
|
|
|
NM_001352514.2(HLCS):c.1185A>G (p.Ser395=)
|
rs979308593
|
|
NM_001352514.2(HLCS):c.1185A>T (p.Ser395=)
|
rs979308593
|
|
NM_001352514.2(HLCS):c.1194C>G (p.Thr398=)
|
|
|
NM_001352514.2(HLCS):c.1197T>C (p.Phe399=)
|
|
|
NM_001352514.2(HLCS):c.1218C>T (p.Ser406=)
|
|
|
NM_001352514.2(HLCS):c.1230G>A (p.Leu410=)
|
|
|
NM_001352514.2(HLCS):c.1242C>A (p.Val414=)
|
|
|
NM_001352514.2(HLCS):c.1242C>T (p.Val414=)
|
|
|
NM_001352514.2(HLCS):c.1249T>C (p.Leu417=)
|
rs535891229
|
|
NM_001352514.2(HLCS):c.1257C>T (p.Phe419=)
|
rs757706257
|
|
NM_001352514.2(HLCS):c.1260C>T (p.Ser420=)
|
rs2146524449
|
|
NM_001352514.2(HLCS):c.1266T>C (p.Ala422=)
|
rs2146524399
|
|
NM_001352514.2(HLCS):c.1284G>A (p.Lys428=)
|
|
|
NM_001352514.2(HLCS):c.1287C>T (p.Leu429=)
|
|
|
NM_001352514.2(HLCS):c.1302T>C (p.Ser434=)
|
rs2146524204
|
|
NM_001352514.2(HLCS):c.1314C>T (p.Tyr438=)
|
rs2066890502
|
|
NM_001352514.2(HLCS):c.1323C>A (p.Gly441=)
|
|
|
NM_001352514.2(HLCS):c.1326C>A (p.Pro442=)
|
|
|
NM_001352514.2(HLCS):c.1330C>A (p.Arg444=)
|
rs139902499
|
|
NM_001352514.2(HLCS):c.1332G>C (p.Arg444=)
|
rs2146523893
|
|
NM_001352514.2(HLCS):c.1332G>T (p.Arg444=)
|
|
|
NM_001352514.2(HLCS):c.1356C>T (p.Gly452=)
|
rs756934917
|
|
NM_001352514.2(HLCS):c.1359C>T (p.His453=)
|
|
|
NM_001352514.2(HLCS):c.1374C>T (p.Asp458=)
|
rs771883068
|
|
NM_001352514.2(HLCS):c.1392G>C (p.Val464=)
|
|
|
NM_001352514.2(HLCS):c.1413C>A (p.Arg471=)
|
rs533602689
|
|
NM_001352514.2(HLCS):c.1419A>G (p.Gly473=)
|
|
|
NM_001352514.2(HLCS):c.1425T>G (p.Ala475=)
|
|
|
NM_001352514.2(HLCS):c.1437+10G>A
|
|
|
NM_001352514.2(HLCS):c.1437+13G>T
|
|
|
NM_001352514.2(HLCS):c.1437+14C>T
|
|
|
NM_001352514.2(HLCS):c.1437+15A>G
|
|
|
NM_001352514.2(HLCS):c.1437+20T>A
|
|
|
NM_001352514.2(HLCS):c.1437+8G>A
|
rs777565665
|
|
NM_001352514.2(HLCS):c.1438-17C>T
|
|
|
NM_001352514.2(HLCS):c.1438-6C>T
|
|
|
NM_001352514.2(HLCS):c.1450C>T (p.Leu484=)
|
|
|
NM_001352514.2(HLCS):c.1452A>C (p.Leu484=)
|
|
|
NM_001352514.2(HLCS):c.1458C>T (p.Pro486=)
|
|
|
NM_001352514.2(HLCS):c.1467C>T (p.Asn489=)
|
|
|
NM_001352514.2(HLCS):c.1473G>T (p.Val491=)
|
rs367611748
|
|
NM_001352514.2(HLCS):c.1482A>G (p.Pro494=)
|
rs2066584824
|
|
NM_001352514.2(HLCS):c.1509C>T (p.Ser503=)
|
|
|
NM_001352514.2(HLCS):c.1551C>A (p.Thr517=)
|
rs138442090
|
|
NM_001352514.2(HLCS):c.1551C>G (p.Thr517=)
|
|
|
NM_001352514.2(HLCS):c.1551C>T (p.Thr517=)
|
|
|
NM_001352514.2(HLCS):c.1581T>G (p.Val527=)
|
|
|
NM_001352514.2(HLCS):c.1608G>A (p.Leu536=)
|
|
|
NM_001352514.2(HLCS):c.1608G>T (p.Leu536=)
|
|
|
NM_001352514.2(HLCS):c.1620+15C>G
|
|
|
NM_001352514.2(HLCS):c.1620+17G>A
|
|
|
NM_001352514.2(HLCS):c.1620+7T>G
|
|
|
NM_001352514.2(HLCS):c.1620+8G>A
|
rs1569206652
|
|
NM_001352514.2(HLCS):c.1620+9T>G
|
rs2146492738
|
|
NM_001352514.2(HLCS):c.1620+9del
|
|
|
NM_001352514.2(HLCS):c.1621-11T>C
|
|
|
NM_001352514.2(HLCS):c.1621-19T>A
|
|
|
NM_001352514.2(HLCS):c.1621-8T>C
|
|
|
NM_001352514.2(HLCS):c.1627A>C (p.Arg543=)
|
rs2146336527
|
|
NM_001352514.2(HLCS):c.1629G>A (p.Arg543=)
|
rs1344897387
|
|
NM_001352514.2(HLCS):c.1632T>C (p.Asp544=)
|
rs2146336458
|
|
NM_001352514.2(HLCS):c.1635T>G (p.Pro545=)
|
rs2146336432
|
|
NM_001352514.2(HLCS):c.1644G>A (p.Gln548=)
|
rs1366041798
|
|
NM_001352514.2(HLCS):c.1659T>C (p.His553=)
|
|
|
NM_001352514.2(HLCS):c.1665C>T (p.Asp555=)
|
|
|
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)
|
rs771923409
|
|
NM_001352514.2(HLCS):c.1668C>T (p.Ser556=)
|
rs771923409
|
|
NM_001352514.2(HLCS):c.1683A>G (p.Lys561=)
|
rs2146336131
|
|
NM_001352514.2(HLCS):c.1686C>T (p.Ser562=)
|
rs141905941
|
|
NM_001352514.2(HLCS):c.1689C>A (p.Gly563=)
|
|
|
NM_001352514.2(HLCS):c.1695C>G (p.Leu565=)
|
rs138209330
|
|
NM_001352514.2(HLCS):c.1698T>G (p.Ser566=)
|
rs2146335962
|
|
NM_001352514.2(HLCS):c.1722G>A (p.Val574=)
|
|
|
NM_001352514.2(HLCS):c.1740C>G (p.Thr580=)
|
|
|
NM_001352514.2(HLCS):c.1743A>G (p.Pro581=)
|
|
|
NM_001352514.2(HLCS):c.1764C>G (p.Thr588=)
|
rs2146335640
|
|
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|
|
NM_001370658.1(BTD):c.-17+16G>A
|
|
|
NM_001370658.1(BTD):c.-17+16G>C
|
|
|
NM_001370658.1(BTD):c.-17+20C>A
|
|
|
NM_001370658.1(BTD):c.-17+20_-17+40dup
|
|
|
NM_001370658.1(BTD):c.-17+23_-17+27dup
|
rs775790954
|
|
NM_001370658.1(BTD):c.-17+7A>G
|
|
|
NM_001370658.1(BTD):c.-17+7A>T
|
|
|
NM_001370658.1(BTD):c.-17+8G>C
|
|
|
NM_001370658.1(BTD):c.-1T>C
|
|
|
NM_001370658.1(BTD):c.-28C>T
|
rs2125312689
|
|
NM_001370658.1(BTD):c.1008A>T (p.Pro336=)
|
|
|
NM_001370658.1(BTD):c.1026A>G (p.Leu342=)
|
rs1367244547
|
|
NM_001370658.1(BTD):c.1035G>A (p.Leu345=)
|
rs768786956
|
|
NM_001370658.1(BTD):c.1038A>C (p.Ser346=)
|
|
|
NM_001370658.1(BTD):c.1041C>A (p.Gly347=)
|
rs142421934
|
|
NM_001370658.1(BTD):c.1047G>T (p.Pro349=)
|
|
|
NM_001370658.1(BTD):c.1068G>A (p.Gln356=)
|
rs891263072
|
|
NM_001370658.1(BTD):c.1077C>T (p.His359=)
|
|
|
NM_001370658.1(BTD):c.1086G>A (p.Glu362=)
|
rs1559600186
|
|
NM_001370658.1(BTD):c.1092C>A (p.Thr364=)
|
rs753278397
|
|
NM_001370658.1(BTD):c.1104G>T (p.Val368=)
|
rs750109648
|
|
NM_001370658.1(BTD):c.1110T>C (p.Ala370=)
|
rs1473669802
|
|
NM_001370658.1(BTD):c.1140T>C (p.Tyr380=)
|
|
|
NM_001370658.1(BTD):c.1143C>T (p.Asp381=)
|
rs2125504297
|
|
NM_001370658.1(BTD):c.114T>C (p.Tyr38=)
|
rs2125453888
|
|
NM_001370658.1(BTD):c.1158C>A (p.Val386=)
|
rs956882463
|
|
NM_001370658.1(BTD):c.1164C>G (p.Val388=)
|
|
|
NM_001370658.1(BTD):c.1164C>T (p.Val388=)
|
|
|
NM_001370658.1(BTD):c.1170A>C (p.Gly390=)
|
rs975896326
|
|
NM_001370658.1(BTD):c.1182T>C (p.Tyr394=)
|
rs368320941
|
|
NM_001370658.1(BTD):c.1191C>T (p.Val397=)
|
|
|
NM_001370658.1(BTD):c.1197C>T (p.Ser399=)
|
|
|
NM_001370658.1(BTD):c.1203C>T (p.Gly401=)
|
rs2125504914
|
|
NM_001370658.1(BTD):c.1215T>C (p.Tyr405=)
|
|
|
NM_001370658.1(BTD):c.1236C>T (p.Thr412=)
|
rs1575030932
|
|
NM_001370658.1(BTD):c.1248G>A (p.Glu416=)
|
rs1208591351
|
|
NM_001370658.1(BTD):c.1251G>C (p.Leu417=)
|
rs771116095
|
|
NM_001370658.1(BTD):c.1257C>A (p.Ala419=)
|
|
|
NM_001370658.1(BTD):c.1257C>T (p.Ala419=)
|
|
|
NM_001370658.1(BTD):c.1260G>A (p.Leu420=)
|
|
|
NM_001370658.1(BTD):c.1275G>T (p.Gly425=)
|
rs2065662696
|
|
NM_001370658.1(BTD):c.129T>C (p.Tyr43=)
|
rs2125453999
|
|
NM_001370658.1(BTD):c.1314T>C (p.Cys438=)
|
|
|
NM_001370658.1(BTD):c.1341C>A (p.Gly447=)
|
|
|
NM_001370658.1(BTD):c.1350C>T (p.Thr450=)
|
|
|
NM_001370658.1(BTD):c.1368A>G (p.Thr456=)
|
|
|
NM_001370658.1(BTD):c.1380G>A (p.Gly460=)
|
|
|
NM_001370658.1(BTD):c.1396C>T (p.Leu466=)
|
rs2125506331
|
|
NM_001370658.1(BTD):c.1404C>A (p.Gly468=)
|
|
|
NM_001370658.1(BTD):c.1419C>G (p.Ser473=)
|
rs1269007233
|
|
NM_001370658.1(BTD):c.141C>T (p.Ser47=)
|
|
|
NM_001370658.1(BTD):c.1422T>C (p.Tyr474=)
|
|
|
NM_001370658.1(BTD):c.1434G>A (p.Leu478=)
|
|
|
NM_001370658.1(BTD):c.1479C>G (p.Gly493=)
|
|
|
NM_001370658.1(BTD):c.1500C>T (p.Phe500=)
|
|
|
NM_001370658.1(BTD):c.1515G>A (p.Arg505=)
|
rs2125507062
|
|
NM_001370658.1(BTD):c.1527G>A (p.Gly509=)
|
rs1388523400
|
|
NM_001370658.1(BTD):c.1530G>A (p.Leu510=)
|
|
|
NM_001370658.1(BTD):c.1551G>T (p.Gly517=)
|
|
|
NM_001370658.1(BTD):c.177C>G (p.Arg59=)
|
|
|
NM_001370658.1(BTD):c.180A>G (p.Gln60=)
|
|
|
NM_001370658.1(BTD):c.187T>C (p.Leu63=)
|
|
|
NM_001370658.1(BTD):c.204G>A (p.Gln68=)
|
rs781457122
|
|
NM_001370658.1(BTD):c.219T>C (p.Tyr73=)
|
|
|
NM_001370658.1(BTD):c.225G>A (p.Gln75=)
|
rs1423985186
|
|
NM_001370658.1(BTD):c.249+19A>C
|
|
|
NM_001370658.1(BTD):c.250-15T>C
|
|
|
NM_001370658.1(BTD):c.250-16A>T
|
|
|
NM_001370658.1(BTD):c.250-18T>C
|
|
|
NM_001370658.1(BTD):c.267G>T (p.Val89=)
|
rs2125485561
|
|
NM_001370658.1(BTD):c.279T>C (p.Asp93=)
|
|
|
NM_001370658.1(BTD):c.291A>G (p.Gly97=)
|
|
|
NM_001370658.1(BTD):c.339G>T (p.Pro113=)
|
rs181743799
|
|
NM_001370658.1(BTD):c.345C>T (p.Pro115=)
|
rs767937184
|
|
NM_001370658.1(BTD):c.357G>A (p.Arg119=)
|
rs2125486415
|
|
NM_001370658.1(BTD):c.366A>T (p.Pro122=)
|
|
|
NM_001370658.1(BTD):c.372G>A (p.Leu124=)
|
|
|
NM_001370658.1(BTD):c.387C>T (p.Phe129=)
|
|
|
NM_001370658.1(BTD):c.399+10G>A
|
|
|
NM_001370658.1(BTD):c.399+19C>T
|
|
|
NM_001370658.1(BTD):c.399+6dup
|
|
|
NM_001370658.1(BTD):c.399+8C>T
|
|
|
NM_001370658.1(BTD):c.399+8del
|
rs2125487004
|
|
NM_001370658.1(BTD):c.400-16C>T
|
|
|
NM_001370658.1(BTD):c.400-18C>T
|
|
|
NM_001370658.1(BTD):c.400-6C>T
|
rs2125499988
|
|
NM_001370658.1(BTD):c.400-7C>T
|
|
|
NM_001370658.1(BTD):c.400-8T>C
|
rs758512428
|
|
NM_001370658.1(BTD):c.402G>A (p.Val134=)
|
rs1003151133
|
|
NM_001370658.1(BTD):c.405C>G (p.Leu135=)
|
|
|
NM_001370658.1(BTD):c.411C>A (p.Arg137=)
|
|
|
NM_001370658.1(BTD):c.417T>C (p.Ser139=)
|
rs2125500181
|
|
NM_001370658.1(BTD):c.429C>T (p.Ile143=)
|
rs2065628963
|
|
NM_001370658.1(BTD):c.435A>T (p.Gly145=)
|
rs2125500346
|
|
NM_001370658.1(BTD):c.456T>C (p.Asn152=)
|
|
|
NM_001370658.1(BTD):c.471G>A (p.Glu157=)
|
|
|
NM_001370658.1(BTD):c.516C>T (p.Tyr172=)
|
|
|
NM_001370658.1(BTD):c.525C>T (p.Asn175=)
|
rs2125500784
|
|
NM_001370658.1(BTD):c.534C>G (p.Val178=)
|
rs757159632
|
|
NM_001370658.1(BTD):c.555C>G (p.Thr185=)
|
|
|
NM_001370658.1(BTD):c.558T>A (p.Leu186=)
|
|
|
NM_001370658.1(BTD):c.564C>T (p.Asp188=)
|
|
|
NM_001370658.1(BTD):c.58C>T (p.Leu20=)
|
|
|
NM_001370658.1(BTD):c.597A>G (p.Ala199=)
|
|
|
NM_001370658.1(BTD):c.624T>C (p.Asp208=)
|
|
|
NM_001370658.1(BTD):c.630C>T (p.Ile210=)
|
|
|
NM_001370658.1(BTD):c.642C>T (p.Thr214=)
|
|
|
NM_001370658.1(BTD):c.645C>G (p.Pro215=)
|
|
|
NM_001370658.1(BTD):c.672A>G (p.Thr224=)
|
rs777224767
|
|
NM_001370658.1(BTD):c.687G>A (p.Leu229=)
|
rs2125501752
|
|
NM_001370658.1(BTD):c.699T>C (p.Pro233=)
|
|
|
NM_001370658.1(BTD):c.711C>T (p.Val237=)
|
|
|
NM_001370658.1(BTD):c.714C>T (p.Leu238=)
|
rs2125501926
|
|
NM_001370658.1(BTD):c.753C>T (p.Ala251=)
|
|
|
NM_001370658.1(BTD):c.762C>T (p.Asn254=)
|
rs2065642615
|
|
NM_001370658.1(BTD):c.798A>G (p.Lys266=)
|
|
|
NM_001370658.1(BTD):c.813C>A (p.Ala271=)
|
|
|
NM_001370658.1(BTD):c.81G>A (p.Glu27=)
|
rs530566306
|
|
NM_001370658.1(BTD):c.846C>T (p.His282=)
|
|
|
NM_001370658.1(BTD):c.84C>T (p.Ser28=)
|
|
|
NM_001370658.1(BTD):c.855T>G (p.Val285=)
|
rs2125502708
|
|
NM_001370658.1(BTD):c.858G>T (p.Leu286=)
|
|
|
NM_001370658.1(BTD):c.867A>G (p.Thr289=)
|
|
|
NM_001370658.1(BTD):c.870A>T (p.Gly290=)
|
|
|
NM_001370658.1(BTD):c.876C>A (p.Gly292=)
|
|
|
NM_001370658.1(BTD):c.894G>A (p.Glu298=)
|
rs2125502955
|
|
NM_001370658.1(BTD):c.897C>T (p.Ser299=)
|
|
|
NM_001370658.1(BTD):c.963A>T (p.Pro321=)
|
rs1313683563
|
|
NM_001370658.1(BTD):c.96T>C (p.His32=)
|
|
|
NM_001370658.1(BTD):c.975T>C (p.Ile325=)
|
|
|
NM_001370658.1(BTD):c.978T>G (p.Gly326=)
|
rs2125503475
|
|
NM_001370658.1(BTD):c.99C>T (p.His33=)
|
rs397514337
|
|
NM_001482.3(GATM):c.1017T>C (p.Thr339=)
|
|
|
NM_001482.3(GATM):c.1032C>T (p.Ile344=)
|
|
|
NM_001482.3(GATM):c.1042+12T>A
|
|
|
NM_001482.3(GATM):c.1042+14del
|
|
|
NM_001482.3(GATM):c.1043-10C>T
|
|
|
NM_001482.3(GATM):c.1043-12T>C
|
|
|
NM_001482.3(GATM):c.1043-12del
|
|
|
NM_001482.3(GATM):c.1043-13T>G
|
|
|
NM_001482.3(GATM):c.1043-15T>C
|
rs1346435580
|
|
NM_001482.3(GATM):c.1043-17G>A
|
|
|
NM_001482.3(GATM):c.1043-17G>C
|
|
|
NM_001482.3(GATM):c.1043-19C>T
|
|
|
NM_001482.3(GATM):c.1043-19_1043-18del
|
|
|
NM_001482.3(GATM):c.1053C>G (p.Leu351=)
|
|
|
NM_001482.3(GATM):c.1053C>T (p.Leu351=)
|
|
|
NM_001482.3(GATM):c.108C>T (p.Phe36=)
|
|
|
NM_001482.3(GATM):c.1110T>C (p.Val370=)
|
|
|
NM_001482.3(GATM):c.1143G>A (p.Lys381=)
|
|
|
NM_001482.3(GATM):c.1149T>C (p.Phe383=)
|
|
|
NM_001482.3(GATM):c.114C>T (p.Ser38=)
|
rs1555384721
|
|
NM_001482.3(GATM):c.1159+10A>G
|
rs372945188
|
|
NM_001482.3(GATM):c.1159+19A>C
|
|
|
NM_001482.3(GATM):c.1159+19A>G
|
rs187979088
|
|
NM_001482.3(GATM):c.1159+20del
|
|
|
NM_001482.3(GATM):c.1159+9A>C
|
rs2140638533
|
|
NM_001482.3(GATM):c.1160-14C>T
|
rs2140636055
|
|
NM_001482.3(GATM):c.1160-17T>C
|
|
|
NM_001482.3(GATM):c.1160-18A>T
|
|
|
NM_001482.3(GATM):c.1194C>T (p.Ala398=)
|
rs2140635956
|
|
NM_001482.3(GATM):c.1200C>T (p.Ser400=)
|
|
|
NM_001482.3(GATM):c.1201C>T (p.Leu401=)
|
|
|
NM_001482.3(GATM):c.1218T>C (p.His406=)
|
|
|
NM_001482.3(GATM):c.1227C>G (p.Thr409=)
|
|
|
NM_001482.3(GATM):c.1227C>T (p.Thr409=)
|
rs1555383902
|
|
NM_001482.3(GATM):c.1239G>C (p.Arg413=)
|
rs550159982
|
|
NM_001482.3(GATM):c.123A>G (p.Ala41=)
|
|
|
NM_001482.3(GATM):c.1245A>G (p.Arg415=)
|
|
|
NM_001482.3(GATM):c.1248C>A (p.Gly416=)
|
|
|
NM_001482.3(GATM):c.1254A>G (p.Leu418=)
|
rs1595481441
|
|
NM_001482.3(GATM):c.1264T>C (p.Leu422=)
|
rs2140635755
|
|
NM_001482.3(GATM):c.139C>A (p.Arg47=)
|
|
|
NM_001482.3(GATM):c.144C>T (p.Asn48=)
|
|
|
NM_001482.3(GATM):c.159C>T (p.Asp53=)
|
rs2140657387
|
|
NM_001482.3(GATM):c.183C>G (p.Pro61=)
|
rs1889642649
|
|
NM_001482.3(GATM):c.189C>T (p.Asp63=)
|
|
|
NM_001482.3(GATM):c.18T>C (p.Cys6=)
|
|
|
NM_001482.3(GATM):c.204T>C (p.Ser68=)
|
rs2140657290
|
|
NM_001482.3(GATM):c.219C>T (p.Asp73=)
|
|
|
NM_001482.3(GATM):c.222C>G (p.Pro74=)
|
|
|
NM_001482.3(GATM):c.222C>T (p.Pro74=)
|
rs774485349
|
|
NM_001482.3(GATM):c.223T>C (p.Leu75=)
|
|
|
NM_001482.3(GATM):c.234G>A (p.Val78=)
|
rs1213691165
|
|
NM_001482.3(GATM):c.243C>T (p.Gly81=)
|
rs1889641457
|
|
NM_001482.3(GATM):c.249A>G (p.Ala83=)
|
|
|
NM_001482.3(GATM):c.258C>T (p.Ala86=)
|
rs773158424
|
|
NM_001482.3(GATM):c.261T>C (p.Cys87=)
|
|
|
NM_001482.3(GATM):c.288+10G>C
|
|
|
NM_001482.3(GATM):c.288+11G>T
|
|
|
NM_001482.3(GATM):c.288+15T>C
|
|
|
NM_001482.3(GATM):c.288+18A>C
|
|
|
NM_001482.3(GATM):c.288+9A>G
|
|
|
NM_001482.3(GATM):c.289-12T>G
|
|
|
NM_001482.3(GATM):c.289-6T>C
|
|
|
NM_001482.3(GATM):c.297A>G (p.Thr99=)
|
rs1445305823
|
|
NM_001482.3(GATM):c.297A>T (p.Thr99=)
|
|
|
NM_001482.3(GATM):c.300T>C (p.Tyr100=)
|
|
|
NM_001482.3(GATM):c.30G>A (p.Gly10=)
|
|
|
NM_001482.3(GATM):c.30G>C (p.Gly10=)
|
|
|
NM_001482.3(GATM):c.330A>C (p.Gln110His)
|
rs1288775
|
|
NM_001482.3(GATM):c.357T>C (p.His119=)
|
rs2140646869
|
|
NM_001482.3(GATM):c.36C>T (p.Arg12=)
|
|
|
NM_001482.3(GATM):c.393C>T (p.Cys131=)
|
rs2140646762
|
|
NM_001482.3(GATM):c.396T>C (p.Asn132=)
|
rs1454154614
|
|
NM_001482.3(GATM):c.39C>A (p.Gly13=)
|
|
|
NM_001482.3(GATM):c.427A>C (p.Arg143=)
|
|
|
NM_001482.3(GATM):c.429G>A (p.Arg143=)
|
|
|
NM_001482.3(GATM):c.42C>G (p.Ala14=)
|
rs892312757
|
|
NM_001482.3(GATM):c.438C>T (p.Pro146=)
|
|
|
NM_001482.3(GATM):c.444C>T (p.Asp148=)
|
|
|
NM_001482.3(GATM):c.450A>G (p.Ser150=)
|
|
|
NM_001482.3(GATM):c.483G>A (p.Thr161=)
|
rs771343478
|
|
NM_001482.3(GATM):c.484+11T>C
|
|
|
NM_001482.3(GATM):c.484+13A>G
|
|
|
NM_001482.3(GATM):c.484+15A>G
|
|
|
NM_001482.3(GATM):c.484+17A>G
|
|
|
NM_001482.3(GATM):c.485-17A>G
|
|
|
NM_001482.3(GATM):c.485-8T>G
|
|
|
NM_001482.3(GATM):c.48G>A (p.Ala16=)
|
rs587780951
|
|
NM_001482.3(GATM):c.516G>T (p.Leu172=)
|
|
|
NM_001482.3(GATM):c.51G>A (p.Val17=)
|
|
|
NM_001482.3(GATM):c.522T>C (p.Val174=)
|
|
|
NM_001482.3(GATM):c.555A>G (p.Ala185=)
|
|
|
NM_001482.3(GATM):c.564A>C (p.Ser188=)
|
|
|
NM_001482.3(GATM):c.576G>A (p.Glu192=)
|
rs759135975
|
|
NM_001482.3(GATM):c.585G>A (p.Ala195=)
|
rs773913371
|
|
NM_001482.3(GATM):c.585G>C (p.Ala195=)
|
|
|
NM_001482.3(GATM):c.588C>T (p.Tyr196=)
|
|
|
NM_001482.3(GATM):c.60C>T (p.Ile20=)
|
|
|
NM_001482.3(GATM):c.615C>T (p.His205=)
|
|
|
NM_001482.3(GATM):c.627G>A (p.Lys209=)
|
|
|
NM_001482.3(GATM):c.633A>G (p.Thr211=)
|
rs1889477759
|
|
NM_001482.3(GATM):c.63A>T (p.Gly21=)
|
|
|
NM_001482.3(GATM):c.663G>A (p.Glu221=)
|
|
|
NM_001482.3(GATM):c.675+10T>A
|
|
|
NM_001482.3(GATM):c.675+14T>A
|
|
|
NM_001482.3(GATM):c.675+18G>A
|
rs2140644526
|
|
NM_001482.3(GATM):c.675+8C>A
|
|
|
NM_001482.3(GATM):c.675+8C>G
|
|
|
NM_001482.3(GATM):c.676-14C>T
|
|
|
NM_001482.3(GATM):c.676-16T>C
|
|
|
NM_001482.3(GATM):c.676-18C>T
|
|
|
NM_001482.3(GATM):c.676-27GT[3]
|
|
|
NM_001482.3(GATM):c.684C>T (p.Pro228=)
|
rs1251849022
|
|
NM_001482.3(GATM):c.69+10C>T
|
|
|
NM_001482.3(GATM):c.69+13C>G
|
|
|
NM_001482.3(GATM):c.69+14C>T
|
|
|
NM_001482.3(GATM):c.69+15G>A
|
|
|
NM_001482.3(GATM):c.69+15G>T
|
|
|
NM_001482.3(GATM):c.69+17C>G
|
|
|
NM_001482.3(GATM):c.69+17C>T
|
|
|
NM_001482.3(GATM):c.69+20C>A
|
|
|
NM_001482.3(GATM):c.69+20C>T
|
|
|
NM_001482.3(GATM):c.69+8C>G
|
rs1044785525
|
|
NM_001482.3(GATM):c.69+8C>T
|
rs1044785525
|
|
NM_001482.3(GATM):c.693T>C (p.Ser231=)
|
|
|
NM_001482.3(GATM):c.699A>G (p.Glu233=)
|
|
|
NM_001482.3(GATM):c.70-10T>A
|
|
|
NM_001482.3(GATM):c.70-19T>C
|
|
|
NM_001482.3(GATM):c.70-20C>G
|
|
|
NM_001482.3(GATM):c.70-8C>A
|
|
|
NM_001482.3(GATM):c.712T>C (p.Leu238=)
|
|
|
NM_001482.3(GATM):c.741T>C (p.Thr247=)
|
|
|
NM_001482.3(GATM):c.753A>T (p.Pro251=)
|
|
|
NM_001482.3(GATM):c.756C>T (p.Cys252=)
|
|
|
NM_001482.3(GATM):c.759T>C (p.Phe253=)
|
|
|
NM_001482.3(GATM):c.771C>T (p.Asp257=)
|
|
|
NM_001482.3(GATM):c.786A>G (p.Gly262=)
|
rs2140641821
|
|
NM_001482.3(GATM):c.798T>C (p.Phe266=)
|
rs2140641810
|
|
NM_001482.3(GATM):c.801A>G (p.Ala267=)
|
|
|
NM_001482.3(GATM):c.813+11G>A
|
rs1172869031
|
|
NM_001482.3(GATM):c.813+11G>C
|
|
|
NM_001482.3(GATM):c.813+16C>T
|
rs768644583
|
|
NM_001482.3(GATM):c.813+7G>A
|
|
|
NM_001482.3(GATM):c.813+7G>C
|
rs1204672868
|
|
NM_001482.3(GATM):c.813+7G>T
|
rs1204672868
|
|
NM_001482.3(GATM):c.814-12T>C
|
rs1595482667
|
|
NM_001482.3(GATM):c.814-13_814-10del
|
rs2140641622
|
|
NM_001482.3(GATM):c.814-14T>C
|
|
|
NM_001482.3(GATM):c.814-17C>G
|
rs368314780
|
|
NM_001482.3(GATM):c.814-19G>T
|
|
|
NM_001482.3(GATM):c.831C>T (p.Gly277=)
|
|
|
NM_001482.3(GATM):c.855T>C (p.Leu285=)
|
|
|
NM_001482.3(GATM):c.867C>T (p.Tyr289=)
|
|
|
NM_001482.3(GATM):c.882C>T (p.Ile294=)
|
|
|
NM_001482.3(GATM):c.897C>T (p.Pro299=)
|
rs2140641504
|
|
NM_001482.3(GATM):c.909T>C (p.His303=)
|
rs2140641491
|
|
NM_001482.3(GATM):c.930C>T (p.Ile310=)
|
rs2140641456
|
|
NM_001482.3(GATM):c.964C>A (p.Arg322=)
|
|
|
NM_001482.3(GATM):c.969A>G (p.Pro323=)
|
|
|
NM_001482.3(GATM):c.978+12C>A
|
|
|
NM_001482.3(GATM):c.978+16G>C
|
|
|
NM_001482.3(GATM):c.978+17del
|
|
|
NM_001482.3(GATM):c.978+9T>C
|
rs1555384111
|
|
NM_001482.3(GATM):c.979-10G>T
|
|
|
NM_001482.3(GATM):c.979-12T>C
|
|
|
NM_001482.3(GATM):c.979-15T>C
|
|
|
NM_001482.3(GATM):c.979-18T>A
|
|
|
NM_001482.3(GATM):c.979-18T>G
|
|
|
NM_001482.3(GATM):c.979-19dup
|
|
|
NM_001482.3(GATM):c.979-9G>A
|
|
|
NM_001482.3(GATM):c.984T>C (p.Asp328=)
|
rs1203613389
|
|
NM_001482.3(GATM):c.990C>T (p.Phe330=)
|
|
|
NM_001609.4(ACADSB):c.1008G>A (p.Val336=)
|
rs1240421187
|
|
NM_001609.4(ACADSB):c.1041A>G (p.Arg347=)
|
|
|
NM_001609.4(ACADSB):c.1056T>C (p.Asn352=)
|
|
|
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=)
|
rs886046780
|
|
NM_001609.4(ACADSB):c.1065G>A (p.Arg355=)
|
|
|
NM_001609.4(ACADSB):c.1228+7A>G
|
|
|
NM_001609.4(ACADSB):c.159C>T (p.Pro53=)
|
rs1370145865
|
|
NM_001609.4(ACADSB):c.261G>A (p.Ser87=)
|
|
|
NM_001609.4(ACADSB):c.336A>G (p.Gly112=)
|
|
|
NM_001609.4(ACADSB):c.369C>T (p.Leu123=)
|
|
|
NM_001609.4(ACADSB):c.511-8A>G
|
|
|
NM_001609.4(ACADSB):c.6G>A (p.Glu2=)
|
|
|
NM_001609.4(ACADSB):c.808-18G>A
|
|
|
NM_001609.4(ACADSB):c.900+7C>G
|
rs2133484739
|
|
NM_001609.4(ACADSB):c.901-11T>G
|
|
|
NM_001609.4(ACADSB):c.939T>C (p.Ile313=)
|
|
|
NM_001698.3(AUH):c.12G>A (p.Ala4=)
|
|
|
NM_001698.3(AUH):c.12G>C (p.Ala4=)
|
|
|
NM_001698.3(AUH):c.153C>T (p.Ala51=)
|
|
|
NM_001698.3(AUH):c.174C>T (p.Ala58=)
|
|
|
NM_001698.3(AUH):c.231G>C (p.Leu77=)
|
|
|
NM_001698.3(AUH):c.262+10G>A
|
|
|
NM_001698.3(AUH):c.263-10C>T
|
|
|
NM_001698.3(AUH):c.263-15T>C
|
rs1341392485
|
|
NM_001698.3(AUH):c.331-12A>G
|
|
|
NM_001698.3(AUH):c.331-14C>T
|
|
|
NM_001698.3(AUH):c.342T>C (p.Ala114=)
|
|
|
NM_001698.3(AUH):c.498C>T (p.Asn166=)
|
|
|
NM_001698.3(AUH):c.505+18C>G
|
|
|
NM_001698.3(AUH):c.505+7A>G
|
|
|
NM_001698.3(AUH):c.506-6T>C
|
|
|
NM_001698.3(AUH):c.506-8C>T
|
|
|
NM_001698.3(AUH):c.546C>T (p.Leu182=)
|
|
|
NM_001698.3(AUH):c.573T>A (p.Ala191=)
|
|
|
NM_001698.3(AUH):c.598+11A>T
|
rs1406913489
|
|
NM_001698.3(AUH):c.598+9_598+12del
|
rs749186187
|
|
NM_001698.3(AUH):c.599-7G>A
|
|
|
NM_001698.3(AUH):c.655+11T>A
|
|
|
NM_001698.3(AUH):c.656-17T>G
|
|
|
NM_001698.3(AUH):c.66G>C (p.Leu22=)
|
|
|
NM_001698.3(AUH):c.714C>T (p.Phe238=)
|
rs1173204062
|
|
NM_001698.3(AUH):c.738A>G (p.Lys246=)
|
|
|
NM_001698.3(AUH):c.768C>T (p.His256=)
|
|
|
NM_001698.3(AUH):c.804C>T (p.Tyr268=)
|
rs775342115
|
|
NM_001698.3(AUH):c.825G>A (p.Ala275=)
|
|
|
NM_001698.3(AUH):c.894+14dup
|
rs2131194109
|
|
NM_001698.3(AUH):c.894+19G>C
|
rs377735590
|
|
NM_001698.3(AUH):c.897C>T (p.Val299=)
|
|
|
NM_001698.3(AUH):c.909A>C (p.Thr303=)
|
rs779607746
|
|
NM_001698.3(AUH):c.943-16A>G
|
|
|
NM_001698.3(AUH):c.951A>T (p.Pro317=)
|
rs530710210
|
|
NM_001698.3(AUH):c.96G>A (p.Pro32=)
|
|
|
NM_001698.3(AUH):c.996G>A (p.Arg332=)
|
|
|
NM_001739.2(CA5A):c.143-15TC[5]
|
rs2144072738
|
|
NM_001739.2(CA5A):c.143-16G>A
|
|
|
NM_001739.2(CA5A):c.159G>A (p.Thr53=)
|
|
|
NM_001739.2(CA5A):c.165G>A (p.Pro55=)
|
|
|
NM_001739.2(CA5A):c.178G>C (p.Gly60Arg)
|
|
|
NM_001739.2(CA5A):c.18T>C (p.Thr6=)
|
rs748244375
|
|
NM_001739.2(CA5A):c.219C>T (p.Asp73=)
|
rs1213799028
|
|
NM_001739.2(CA5A):c.249C>G (p.Leu83=)
|
|
|
NM_001739.2(CA5A):c.255C>G (p.Val85=)
|
|
|
NM_001739.2(CA5A):c.279G>A (p.Leu93=)
|
|
|
NM_001739.2(CA5A):c.429C>T (p.His143=)
|
|
|
NM_001739.2(CA5A):c.447G>A (p.Ala149=)
|
|
|
NM_001739.2(CA5A):c.459+11G>A
|
|
|
NM_001739.2(CA5A):c.459+7A>T
|
|
|
NM_001739.2(CA5A):c.510T>A (p.Ala170=)
|
|
|
NM_001739.2(CA5A):c.513C>T (p.Val171=)
|
|
|
NM_001739.2(CA5A):c.555+16G>T
|
|
|
NM_001739.2(CA5A):c.555+19G>A
|
|
|
NM_001739.2(CA5A):c.558C>T (p.Leu186=)
|
|
|
NM_001739.2(CA5A):c.588G>C (p.Leu196=)
|
rs2055884463
|
|
NM_001739.2(CA5A):c.603G>A (p.Pro201=)
|
|
|
NM_001739.2(CA5A):c.618+10A>G
|
|
|
NM_001739.2(CA5A):c.618+16G>C
|
|
|
NM_001739.2(CA5A):c.699G>A (p.Ser233=)
|
|
|
NM_001739.2(CA5A):c.711G>A (p.Pro237=)
|
|
|
NM_001739.2(CA5A):c.720C>T (p.Thr240=)
|
|
|
NM_001739.2(CA5A):c.732C>G (p.Thr244=)
|
|
|
NM_001739.2(CA5A):c.774+13C>T
|
|
|
NM_001739.2(CA5A):c.775-10T>A
|
|
|
NM_001739.2(CA5A):c.819G>A (p.Glu273=)
|
rs2143888655
|
|
NM_001739.2(CA5A):c.81G>A (p.Ser27=)
|
|
|
NM_001739.2(CA5A):c.846C>T (p.Arg282=)
|
rs767556079
|
|
NM_001739.2(CA5A):c.852T>G (p.Leu284=)
|
|
|
NM_001739.2(CA5A):c.867C>T (p.Asn289=)
|
|
|
NM_001739.2(CA5A):c.885C>T (p.Ser295=)
|
|
|
NM_001875.5(CPS1):c.1014C>G (p.Gly338=)
|
|
|
NM_001875.5(CPS1):c.1020C>T (p.Ala340=)
|
rs1398138189
|
|
NM_001875.5(CPS1):c.1038T>G (p.Pro346=)
|
rs2106111216
|
|
NM_001875.5(CPS1):c.1044C>T (p.Gly348=)
|
|
|
NM_001875.5(CPS1):c.105C>A (p.Gly35=)
|
|
|
NM_001875.5(CPS1):c.1065T>C (p.Asn355=)
|
rs1698317663
|
|
NM_001875.5(CPS1):c.1086+14A>G
|
|
|
NM_001875.5(CPS1):c.1086+17A>G
|
|
|
NM_001875.5(CPS1):c.1086+18A>G
|
|
|
NM_001875.5(CPS1):c.1086+19C>A
|
|
|
NM_001875.5(CPS1):c.1086+9T>C
|
rs2106111329
|
|
NM_001875.5(CPS1):c.1087-12T>C
|
|
|
NM_001875.5(CPS1):c.1087-16T>C
|
|
|
NM_001875.5(CPS1):c.1087-20C>T
|
|
|
NM_001875.5(CPS1):c.1087-9T>C
|
rs2106113002
|
|
NM_001875.5(CPS1):c.108C>T (p.Ile36=)
|
|
|
NM_001875.5(CPS1):c.1098T>C (p.His366=)
|
rs1363275376
|
|
NM_001875.5(CPS1):c.1101G>A (p.Glu367=)
|
rs975444103
|
|
NM_001875.5(CPS1):c.1110C>T (p.Pro370=)
|
|
|
NM_001875.5(CPS1):c.1122G>T (p.Val374=)
|
|
|
NM_001875.5(CPS1):c.1140C>A (p.Val380=)
|
|
|
NM_001875.5(CPS1):c.1146G>T (p.Pro382=)
|
|
|
NM_001875.5(CPS1):c.114C>T (p.Leu38=)
|
|
|
NM_001875.5(CPS1):c.1153A>G (p.Ile385Val)
|
|
|
NM_001875.5(CPS1):c.1155A>C (p.Ile385=)
|
rs2106113282
|
|
NM_001875.5(CPS1):c.1161T>A (p.Thr387=)
|
|
|
NM_001875.5(CPS1):c.1161T>C (p.Thr387=)
|
|
|
NM_001875.5(CPS1):c.1164+13G>C
|
|
|
NM_001875.5(CPS1):c.1164+16G>C
|
|
|
NM_001875.5(CPS1):c.1164+20C>A
|
|
|
NM_001875.5(CPS1):c.1164+9A>G
|
|
|
NM_001875.5(CPS1):c.1165-10T>C
|
rs1698417211
|
|
NM_001875.5(CPS1):c.1165-13T>A
|
|
|
NM_001875.5(CPS1):c.1165-13T>C
|
|
|
NM_001875.5(CPS1):c.1165-16T>C
|
|
|
NM_001875.5(CPS1):c.1165-17G>A
|
rs2106116257
|
|
NM_001875.5(CPS1):c.1165-18G>A
|
|
|
NM_001875.5(CPS1):c.1165-6T>C
|
|
|
NM_001875.5(CPS1):c.1170G>C (p.Leu390=)
|
rs2106116338
|
|
NM_001875.5(CPS1):c.1189C>T (p.Leu397=)
|
|
|
NM_001875.5(CPS1):c.1209T>A (p.Ala403=)
|
rs2106116420
|
|
NM_001875.5(CPS1):c.1233G>A (p.Pro411=)
|
|
|
NM_001875.5(CPS1):c.1233G>T (p.Pro411=)
|
|
|
NM_001875.5(CPS1):c.1242A>C (p.Ala414=)
|
rs748923975
|
|
NM_001875.5(CPS1):c.1242A>G (p.Ala414=)
|
|
|
NM_001875.5(CPS1):c.1251A>G (p.Ala417=)
|
|
|
NM_001875.5(CPS1):c.126+10A>G
|
|
|
NM_001875.5(CPS1):c.126+12A>G
|
|
|
NM_001875.5(CPS1):c.126+13T>C
|
|
|
NM_001875.5(CPS1):c.126+16A>G
|
|
|
NM_001875.5(CPS1):c.126+17T>C
|
|
|
NM_001875.5(CPS1):c.126+19G>T
|
|
|
NM_001875.5(CPS1):c.126+7C>T
|
|
|
NM_001875.5(CPS1):c.1263+12G>C
|
|
|
NM_001875.5(CPS1):c.1263+13del
|
|
|
NM_001875.5(CPS1):c.1263+14C>G
|
|
|
NM_001875.5(CPS1):c.1263+17A>T
|
|
|
NM_001875.5(CPS1):c.1263+8T>A
|
|
|
NM_001875.5(CPS1):c.1263+8TG[4]
|
rs1553511697
|
|
NM_001875.5(CPS1):c.1264-10T>C
|
rs2106118113
|
|
NM_001875.5(CPS1):c.1264-15T>C
|
|
|
NM_001875.5(CPS1):c.1264-17T>C
|
|
|
NM_001875.5(CPS1):c.1264-19T>C
|
|
|
NM_001875.5(CPS1):c.1264-4A>G
|
|
|
NM_001875.5(CPS1):c.1264-6T>G
|
|
|
NM_001875.5(CPS1):c.127-13A>C
|
rs1553508991
|
|
NM_001875.5(CPS1):c.127-16G>T
|
|
|
NM_001875.5(CPS1):c.127-17T>C
|
|
|
NM_001875.5(CPS1):c.127-6C>G
|
|
|
NM_001875.5(CPS1):c.127-6C>T
|
|
|
NM_001875.5(CPS1):c.127-7T>C
|
rs2106073173
|
|
NM_001875.5(CPS1):c.1272A>G (p.Lys424=)
|
|
|
NM_001875.5(CPS1):c.1282C>T (p.Leu428=)
|
rs1574567820
|
|
NM_001875.5(CPS1):c.1302C>A (p.Ser434=)
|
|
|
NM_001875.5(CPS1):c.1344T>C (p.Ala448=)
|
rs2106118315
|
|
NM_001875.5(CPS1):c.1347A>C (p.Val449=)
|
rs1298255125
|
|
NM_001875.5(CPS1):c.1347A>G (p.Val449=)
|
rs1298255125
|
|
NM_001875.5(CPS1):c.1359+17C>G
|
|
|
NM_001875.5(CPS1):c.1359+7G>C
|
|
|
NM_001875.5(CPS1):c.1359+8A>G
|
|
|
NM_001875.5(CPS1):c.1359+9A>G
|
|
|
NM_001875.5(CPS1):c.135A>G (p.Thr45=)
|
|
|
NM_001875.5(CPS1):c.1360-11G>A
|
|
|
NM_001875.5(CPS1):c.1360-11G>C
|
|
|
NM_001875.5(CPS1):c.1360-16C>A
|
|
|
NM_001875.5(CPS1):c.1360-17T>C
|
|
|
NM_001875.5(CPS1):c.1360-7_1360-6del
|
|
|
NM_001875.5(CPS1):c.1360-8T>C
|
|
|
NM_001875.5(CPS1):c.1371C>G (p.Val457=)
|
rs1698623665
|
|
NM_001875.5(CPS1):c.1381C>T (p.Leu461=)
|
|
|
NM_001875.5(CPS1):c.1383G>A (p.Leu461=)
|
|
|
NM_001875.5(CPS1):c.138A>G (p.Ala46=)
|
|
|
NM_001875.5(CPS1):c.1398T>C (p.Ile466=)
|
|
|
NM_001875.5(CPS1):c.1401A>T (p.Ala467=)
|
rs769809767
|
|
NM_001875.5(CPS1):c.1404A>C (p.Ser468=)
|
rs1574573024
|
|
NM_001875.5(CPS1):c.1407C>G (p.Val469=)
|
rs1574573037
|
|
NM_001875.5(CPS1):c.1413C>T (p.Thr471=)
|
|
|
NM_001875.5(CPS1):c.141C>T (p.His47=)
|
rs2106073214
|
|
NM_001875.5(CPS1):c.1431G>A (p.Lys477=)
|
|
|
NM_001875.5(CPS1):c.1440T>C (p.Asp480=)
|
|
|
NM_001875.5(CPS1):c.1446C>G (p.Val482=)
|
rs1427789805
|
|
NM_001875.5(CPS1):c.1446C>T (p.Val482=)
|
rs1427789805
|
|
NM_001875.5(CPS1):c.144T>C (p.Ile48=)
|
|
|
NM_001875.5(CPS1):c.1452T>C (p.Phe484=)
|
rs1698629346
|
|
NM_001875.5(CPS1):c.1458C>A (p.Pro486=)
|
rs758089312
|
|
NM_001875.5(CPS1):c.1473T>C (p.Phe491=)
|
rs2106126359
|
|
NM_001875.5(CPS1):c.147C>G (p.Val49=)
|
rs1574540092
|
|
NM_001875.5(CPS1):c.147C>T (p.Val49=)
|
|
|
NM_001875.5(CPS1):c.1491G>A (p.Lys497=)
|
|
|
NM_001875.5(CPS1):c.1509G>T (p.Gly503=)
|
|
|
NM_001875.5(CPS1):c.1530C>A (p.Gly510=)
|
|
|
NM_001875.5(CPS1):c.1536A>G (p.Thr512=)
|
|
|
NM_001875.5(CPS1):c.1540C>T (p.Leu514=)
|
rs890185470
|
|
NM_001875.5(CPS1):c.1549+11A>C
|
|
|
NM_001875.5(CPS1):c.1550-12G>A
|
|
|
NM_001875.5(CPS1):c.1550-12G>C
|
|
|
NM_001875.5(CPS1):c.1550-12G>T
|
|
|
NM_001875.5(CPS1):c.1550-15T>C
|
|
|
NM_001875.5(CPS1):c.1550-16T>C
|
|
|
NM_001875.5(CPS1):c.1550-20C>T
|
|
|
NM_001875.5(CPS1):c.1550-4T>C
|
|
|
NM_001875.5(CPS1):c.1550-5T>G
|
|
|
NM_001875.5(CPS1):c.1550-6C>G
|
|
|
NM_001875.5(CPS1):c.1550-9C>T
|
rs768654576
|
|
NM_001875.5(CPS1):c.1551A>C (p.Gly517=)
|
|
|
NM_001875.5(CPS1):c.1587T>C (p.Tyr529=)
|
|
|
NM_001875.5(CPS1):c.1623T>C (p.Ile541=)
|
rs1698686885
|
|
NM_001875.5(CPS1):c.1638C>T (p.Asp546=)
|
rs1326614424
|
|
NM_001875.5(CPS1):c.1647G>A (p.Leu549=)
|
|
|
NM_001875.5(CPS1):c.1660C>T (p.Leu554=)
|
|
|
NM_001875.5(CPS1):c.1665T>C (p.Asn555=)
|
rs745650408
|
|
NM_001875.5(CPS1):c.1683T>C (p.Ile561=)
|
|
|
NM_001875.5(CPS1):c.1686T>C (p.Ala562=)
|
rs1574575327
|
|
NM_001875.5(CPS1):c.1689A>C (p.Pro563=)
|
|
|
NM_001875.5(CPS1):c.1689A>T (p.Pro563=)
|
rs768681752
|
|
NM_001875.5(CPS1):c.1698A>G (p.Ala566=)
|
rs2105840611
|
|
NM_001875.5(CPS1):c.1699G>C (p.Val567Leu)
|
|
|
NM_001875.5(CPS1):c.1707+11T>C
|
|
|
NM_001875.5(CPS1):c.1707+20G>A
|
|
|
NM_001875.5(CPS1):c.1708-16T>C
|
|
|
NM_001875.5(CPS1):c.1708-5G>C
|
rs571670790
|
|
NM_001875.5(CPS1):c.1708-6T>C
|
|
|
NM_001875.5(CPS1):c.1708-7T>C
|
|
|
NM_001875.5(CPS1):c.1720C>T (p.Leu574=)
|
|
|
NM_001875.5(CPS1):c.1722G>A (p.Leu574=)
|
|
|
NM_001875.5(CPS1):c.1737C>A (p.Thr579=)
|
|
|
NM_001875.5(CPS1):c.1737C>T (p.Thr579=)
|
|
|
NM_001875.5(CPS1):c.174T>C (p.Gly58=)
|
|
|
NM_001875.5(CPS1):c.1764C>A (p.Ser588=)
|
rs374071271
|
|
NM_001875.5(CPS1):c.1770T>C (p.Tyr590=)
|
|
|
NM_001875.5(CPS1):c.1773A>G (p.Ala591=)
|
|
|
NM_001875.5(CPS1):c.177C>T (p.Tyr59=)
|
rs1390730716
|
|
NM_001875.5(CPS1):c.1782G>T (p.Gly594=)
|
rs200968000
|
|
NM_001875.5(CPS1):c.1791A>G (p.Ser597=)
|
|
|
NM_001875.5(CPS1):c.17C>T (p.Thr6Ile)
|
|
|
NM_001875.5(CPS1):c.1803C>G (p.Pro601=)
|
rs2105843106
|
|
NM_001875.5(CPS1):c.1809A>G (p.Arg603=)
|
|
|
NM_001875.5(CPS1):c.1815T>A (p.Thr605=)
|
rs1698755276
|
|
NM_001875.5(CPS1):c.1815T>C (p.Thr605=)
|
|
|
NM_001875.5(CPS1):c.1815T>G (p.Thr605=)
|
rs1698755276
|
|
NM_001875.5(CPS1):c.1816T>C (p.Leu606=)
|
rs1355862440
|
|
NM_001875.5(CPS1):c.1827C>T (p.Leu609=)
|
rs1574577723
|
|
NM_001875.5(CPS1):c.1830C>T (p.Ser610=)
|
rs2105843159
|
|
NM_001875.5(CPS1):c.1836+11T>C
|
|
|
NM_001875.5(CPS1):c.1836+13G>A
|
rs1239037348
|
|
NM_001875.5(CPS1):c.1836+14T>A
|
rs2105843197
|
|
NM_001875.5(CPS1):c.1836+16G>C
|
|
|
NM_001875.5(CPS1):c.1836+8T>G
|
|
|
NM_001875.5(CPS1):c.1837-13C>T
|
|
|
NM_001875.5(CPS1):c.1837-14T>C
|
|
|
NM_001875.5(CPS1):c.1837-20C>A
|
|
|
NM_001875.5(CPS1):c.1837-4C>A
|
rs2105847166
|
|
NM_001875.5(CPS1):c.1837-9A>G
|
|
|
NM_001875.5(CPS1):c.1839C>T (p.Ala613=)
|
|
|
NM_001875.5(CPS1):c.1854C>T (p.Asn618=)
|
rs1329765894
|
|
NM_001875.5(CPS1):c.186C>A (p.Gly62=)
|
|
|
NM_001875.5(CPS1):c.1875A>C (p.Ser625=)
|
rs1698860002
|
|
NM_001875.5(CPS1):c.1881A>G (p.Thr627=)
|
|
|
NM_001875.5(CPS1):c.1893A>G (p.Glu631=)
|
rs2105847319
|
|
NM_001875.5(CPS1):c.1899A>G (p.Glu633=)
|
|
|
NM_001875.5(CPS1):c.18A>G (p.Thr6=)
|
|
|
NM_001875.5(CPS1):c.1908G>T (p.Val636=)
|
|
|
NM_001875.5(CPS1):c.1923T>C (p.Asp641=)
|
rs149489502
|
|
NM_001875.5(CPS1):c.1926C>T (p.Asp642=)
|
rs1574581538
|
|
NM_001875.5(CPS1):c.192A>G (p.Pro64=)
|
|
|
NM_001875.5(CPS1):c.1947C>T (p.Asn649=)
|
|
|
NM_001875.5(CPS1):c.1959T>C (p.Val653=)
|
rs1698865843
|
|
NM_001875.5(CPS1):c.1962T>C (p.Asp654=)
|
|
|
NM_001875.5(CPS1):c.1965C>T (p.Ala655=)
|
rs2105847501
|
|
NM_001875.5(CPS1):c.1981+12A>G
|
|
|
NM_001875.5(CPS1):c.1981+14C>T
|
|
|
NM_001875.5(CPS1):c.1981+20G>C
|
|
|
NM_001875.5(CPS1):c.1981+7A>C
|
rs185758505
|
|
NM_001875.5(CPS1):c.1981+7A>G
|
rs185758505
|
|
NM_001875.5(CPS1):c.1981+9A>T
|
rs2105847580
|
|
NM_001875.5(CPS1):c.1982-10G>T
|
rs2105849819
|
|
NM_001875.5(CPS1):c.1982-12T>C
|
|
|
NM_001875.5(CPS1):c.1982-16C>T
|
|
|
NM_001875.5(CPS1):c.1982-18T>C
|
|
|
NM_001875.5(CPS1):c.1982-19G>C
|
|
|
NM_001875.5(CPS1):c.1982-4A>G
|
|
|
NM_001875.5(CPS1):c.1982-8A>T
|
rs563304664
|
|
NM_001875.5(CPS1):c.1992T>G (p.Val664=)
|
|
|
NM_001875.5(CPS1):c.1995T>C (p.Val665=)
|
rs770854846
|
|
NM_001875.5(CPS1):c.2007C>A (p.Ala669=)
|
rs2105849900
|
|
NM_001875.5(CPS1):c.2013A>G (p.Thr671=)
|
|
|
NM_001875.5(CPS1):c.2016C>G (p.Leu672=)
|
|
|
NM_001875.5(CPS1):c.2028G>A (p.Glu676=)
|
|
|
NM_001875.5(CPS1):c.2040G>A (p.Leu680=)
|
|
|
NM_001875.5(CPS1):c.2045G>A (p.Arg682His)
|
|
|
NM_001875.5(CPS1):c.2052A>T (p.Ser684=)
|
|
|
NM_001875.5(CPS1):c.2058T>C (p.Asn686=)
|
|
|
NM_001875.5(CPS1):c.2064T>C (p.Val688=)
|
rs2105850060
|
|
NM_001875.5(CPS1):c.2064T>G (p.Val688=)
|
rs2105850060
|
|
NM_001875.5(CPS1):c.2100G>A (p.Gln700=)
|
rs1698931117
|
|
NM_001875.5(CPS1):c.2103T>C (p.Phe701=)
|
rs1361109371
|
|
NM_001875.5(CPS1):c.2109T>G (p.Leu703=)
|
|
|
NM_001875.5(CPS1):c.2114C>G (p.Pro705Arg)
|
|
|
NM_001875.5(CPS1):c.2118C>T (p.Thr706=)
|
|
|
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu)
|
rs551261693
|
|
NM_001875.5(CPS1):c.2181A>C (p.Ser727=)
|
|
|
NM_001875.5(CPS1):c.2184A>G (p.Lys728=)
|
rs1574584352
|
|
NM_001875.5(CPS1):c.2187C>T (p.Ala729=)
|
rs2105850303
|
|
NM_001875.5(CPS1):c.2190T>C (p.Thr730=)
|
|
|
NM_001875.5(CPS1):c.2192+10G>C
|
rs2105850342
|
|
NM_001875.5(CPS1):c.2192+11A>G
|
|
|
NM_001875.5(CPS1):c.2192+7C>T
|
|
|
NM_001875.5(CPS1):c.2192+8C>G
|
|
|
NM_001875.5(CPS1):c.2192+9A>G
|
|
|
NM_001875.5(CPS1):c.2193-13C>G
|
|
|
NM_001875.5(CPS1):c.2193-14T>A
|
rs569836557
|
|
NM_001875.5(CPS1):c.2193-14T>C
|
|
|
NM_001875.5(CPS1):c.2193-16T>C
|
|
|
NM_001875.5(CPS1):c.2193-17T>C
|
|
|
NM_001875.5(CPS1):c.2193-18T>C
|
|
|
NM_001875.5(CPS1):c.2193-5T>C
|
|
|
NM_001875.5(CPS1):c.2193-6T>G
|
|
|
NM_001875.5(CPS1):c.2196C>T (p.Tyr732=)
|
|
|
NM_001875.5(CPS1):c.2199A>G (p.Pro733=)
|
rs780079490
|
|
NM_001875.5(CPS1):c.2200T>C (p.Leu734=)
|
rs1297131870
|
|
NM_001875.5(CPS1):c.2205A>T (p.Ala735=)
|
|
|
NM_001875.5(CPS1):c.2208C>T (p.Phe736=)
|
|
|
NM_001875.5(CPS1):c.2217A>C (p.Ala739=)
|
|
|
NM_001875.5(CPS1):c.2217A>G (p.Ala739=)
|
rs1698996365
|
|
NM_001875.5(CPS1):c.2226C>T (p.Ala742=)
|
|
|
NM_001875.5(CPS1):c.2244A>G (p.Pro748=)
|
|
|
NM_001875.5(CPS1):c.2262A>G (p.Val754=)
|
|
|
NM_001875.5(CPS1):c.2271G>A (p.Lys757=)
|
rs2105852726
|
|
NM_001875.5(CPS1):c.2274A>G (p.Thr758=)
|
|
|
NM_001875.5(CPS1):c.2277A>G (p.Ser759=)
|
rs2105852746
|
|
NM_001875.5(CPS1):c.228C>G (p.Gly76=)
|
rs1450875442
|
|
NM_001875.5(CPS1):c.2301T>C (p.Asp767=)
|
rs2105852796
|
|
NM_001875.5(CPS1):c.2316G>A (p.Lys772=)
|
rs1574586633
|
|
NM_001875.5(CPS1):c.2322C>A (p.Pro774=)
|
rs1445208216
|
|
NM_001875.5(CPS1):c.2334T>C (p.Leu778=)
|
rs2105852851
|
|
NM_001875.5(CPS1):c.2334T>G (p.Leu778=)
|
rs2105852851
|
|
NM_001875.5(CPS1):c.2337C>T (p.Asp779=)
|
|
|
NM_001875.5(CPS1):c.2358C>T (p.Ser786=)
|
rs1699003909
|
|
NM_001875.5(CPS1):c.236+18A>G
|
|
|
NM_001875.5(CPS1):c.2361A>G (p.Arg787=)
|
|
|
NM_001875.5(CPS1):c.237-12A>G
|
|
|
NM_001875.5(CPS1):c.237-14G>A
|
|
|
NM_001875.5(CPS1):c.237-4C>T
|
rs777273892
|
|
NM_001875.5(CPS1):c.237G>A (p.Gly79=)
|
rs770681923
|
|
NM_001875.5(CPS1):c.2382T>C (p.Ser794=)
|
|
|
NM_001875.5(CPS1):c.2391+10del
|
|
|
NM_001875.5(CPS1):c.2391+11G>A
|
|
|
NM_001875.5(CPS1):c.2391+11G>T
|
|
|
NM_001875.5(CPS1):c.2391+12G>A
|
|
|
NM_001875.5(CPS1):c.2391+12G>C
|
|
|
NM_001875.5(CPS1):c.2391+12_2391+21del
|
|
|
NM_001875.5(CPS1):c.2391+17T>C
|
|
|
NM_001875.5(CPS1):c.2391+18T>C
|
|
|
NM_001875.5(CPS1):c.2392-11A>G
|
|
|
NM_001875.5(CPS1):c.2392-17T>C
|
|
|
NM_001875.5(CPS1):c.2392-19T>G
|
|
|
NM_001875.5(CPS1):c.2392-20G>A
|
|
|
NM_001875.5(CPS1):c.2403T>C (p.Ile801=)
|
rs2105858988
|
|
NM_001875.5(CPS1):c.2412C>T (p.Thr804=)
|
rs2105859014
|
|
NM_001875.5(CPS1):c.2415T>C (p.Phe805=)
|
rs1553513861
|
|
NM_001875.5(CPS1):c.243A>C (p.Pro81=)
|
|
|
NM_001875.5(CPS1):c.243A>G (p.Pro81=)
|
rs2106079420
|
|
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu)
|
|
|
NM_001875.5(CPS1):c.2463A>G (p.Glu821=)
|
|
|
NM_001875.5(CPS1):c.2469C>T (p.Phe823=)
|
rs1264691798
|
|
NM_001875.5(CPS1):c.2475C>T (p.Pro825=)
|
rs751784059
|
|
NM_001875.5(CPS1):c.2477G>A (p.Arg826His)
|
|
|
NM_001875.5(CPS1):c.2481C>T (p.Leu827=)
|
rs1699152712
|
|
NM_001875.5(CPS1):c.2512G>A (p.Asp838Asn)
|
|
|
NM_001875.5(CPS1):c.2520A>G (p.Arg840=)
|
|
|
NM_001875.5(CPS1):c.2526G>A (p.Glu842=)
|
|
|
NM_001875.5(CPS1):c.2532T>G (p.Ser844=)
|
|
|
NM_001875.5(CPS1):c.2546C>T (p.Thr849Met)
|
|
|
NM_001875.5(CPS1):c.2553C>A (p.Ile851=)
|
|
|
NM_001875.5(CPS1):c.2553C>G (p.Ile851Met)
|
|
|
NM_001875.5(CPS1):c.2556T>C (p.Tyr852=)
|
|
|
NM_001875.5(CPS1):c.255T>C (p.Thr85=)
|
rs2106079439
|
|
NM_001875.5(CPS1):c.2568+18G>C
|
|
|
NM_001875.5(CPS1):c.2568+21del
|
|
|
NM_001875.5(CPS1):c.2569-10C>T
|
|
|
NM_001875.5(CPS1):c.2569-18C>A
|
|
|
NM_001875.5(CPS1):c.2569-18C>G
|
|
|
NM_001875.5(CPS1):c.2569-20A>G
|
|
|
NM_001875.5(CPS1):c.2569-4G>A
|
rs2105865945
|
|
NM_001875.5(CPS1):c.2569-6T>G
|
rs2105865940
|
|
NM_001875.5(CPS1):c.2569-7T>C
|
|
|
NM_001875.5(CPS1):c.2596G>A (p.Glu866Lys)
|
|
|
NM_001875.5(CPS1):c.2607G>A (p.Lys869=)
|
|
|
NM_001875.5(CPS1):c.2613A>G (p.Thr871=)
|
|
|
NM_001875.5(CPS1):c.2616C>T (p.Tyr872=)
|
rs1699309581
|
|
NM_001875.5(CPS1):c.261T>A (p.Pro87=)
|
|
|
NM_001875.5(CPS1):c.261T>C (p.Pro87=)
|
|
|
NM_001875.5(CPS1):c.2625G>A (p.Lys875=)
|
|
|
NM_001875.5(CPS1):c.2640G>A (p.Lys880=)
|
|
|
NM_001875.5(CPS1):c.2645G>A (p.Arg882His)
|
|
|
NM_001875.5(CPS1):c.264C>T (p.Ala88=)
|
|
|
NM_001875.5(CPS1):c.2678G>T (p.Gly893Val)
|
|
|
NM_001875.5(CPS1):c.2687+10T>C
|
|
|
NM_001875.5(CPS1):c.2687+11G>A
|
|
|
NM_001875.5(CPS1):c.2687+14G>A
|
|
|
NM_001875.5(CPS1):c.2687+16T>G
|
|
|
NM_001875.5(CPS1):c.2687+17C>T
|
|
|
NM_001875.5(CPS1):c.2687+19C>A
|
|
|
NM_001875.5(CPS1):c.2687+20A>C
|
|
|
NM_001875.5(CPS1):c.2687+7C>T
|
|
|
NM_001875.5(CPS1):c.2687+9G>C
|
rs377094467
|
|
NM_001875.5(CPS1):c.2688-11T>C
|
|
|
NM_001875.5(CPS1):c.2688-12A>G
|
rs376699772
|
|
NM_001875.5(CPS1):c.2688-16T>C
|
rs2105895298
|
|
NM_001875.5(CPS1):c.2688-5C>T
|
rs1700078975
|
|
NM_001875.5(CPS1):c.2688-6T>C
|
rs2105895311
|
|
NM_001875.5(CPS1):c.2691G>A (p.Glu897=)
|
|
|
NM_001875.5(CPS1):c.2695A>G (p.Met899Val)
|
|
|
NM_001875.5(CPS1):c.2709C>A (p.Thr903=)
|
rs774243804
|
|
NM_001875.5(CPS1):c.2736C>T (p.Phe912=)
|
|
|
NM_001875.5(CPS1):c.273A>G (p.Gly91=)
|
|
|
NM_001875.5(CPS1):c.2748G>A (p.Gln916=)
|
rs758815468
|
|
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile)
|
rs150463750
|
|
NM_001875.5(CPS1):c.2784A>G (p.Thr928=)
|
|
|
NM_001875.5(CPS1):c.2796G>A (p.Arg932=)
|
rs2105895536
|
|
NM_001875.5(CPS1):c.27A>G (p.Lys9=)
|
|
|
NM_001875.5(CPS1):c.2808C>T (p.Asn936=)
|
|
|
NM_001875.5(CPS1):c.2817T>C (p.Pro939=)
|
|
|
NM_001875.5(CPS1):c.2829+14C>G
|
|
|
NM_001875.5(CPS1):c.2829+15C>T
|
|
|
NM_001875.5(CPS1):c.2829+8A>T
|
|
|
NM_001875.5(CPS1):c.2830-14G>A
|
|
|
NM_001875.5(CPS1):c.2830-14G>C
|
|
|
NM_001875.5(CPS1):c.2830-19T>C
|
rs1553516321
|
|
NM_001875.5(CPS1):c.2830-20T>G
|
|
|
NM_001875.5(CPS1):c.2830-5T>A
|
rs2105897309
|
|
NM_001875.5(CPS1):c.2835T>C (p.Asp945=)
|
|
|
NM_001875.5(CPS1):c.2838A>T (p.Thr946=)
|
|
|
NM_001875.5(CPS1):c.2839C>T (p.Leu947=)
|
rs1275836824
|
|
NM_001875.5(CPS1):c.2856A>G (p.Pro952=)
|
|
|
NM_001875.5(CPS1):c.2868C>T (p.Asn956=)
|
|
|
NM_001875.5(CPS1):c.2871T>C (p.Tyr957=)
|
|
|
NM_001875.5(CPS1):c.2877T>C (p.Tyr959=)
|
|
|
NM_001875.5(CPS1):c.2895+11G>C
|
|
|
NM_001875.5(CPS1):c.2895+16T>G
|
|
|
NM_001875.5(CPS1):c.2895+20C>A
|
|
|
NM_001875.5(CPS1):c.2895+20C>T
|
|
|
NM_001875.5(CPS1):c.2896-12T>C
|
|
|
NM_001875.5(CPS1):c.2896-9T>C
|
|
|
NM_001875.5(CPS1):c.2908A>G (p.Asn970Asp)
|
|
|
NM_001875.5(CPS1):c.2922T>C (p.His974=)
|
rs2105898789
|
|
NM_001875.5(CPS1):c.2925A>G (p.Gly975=)
|
|
|
NM_001875.5(CPS1):c.2934G>T (p.Val978=)
|
rs2105898803
|
|
NM_001875.5(CPS1):c.2940C>T (p.Gly980=)
|
rs752969364
|
|
NM_001875.5(CPS1):c.2946T>A (p.Gly982=)
|
rs2105898820
|
|
NM_001875.5(CPS1):c.2952T>C (p.Tyr984=)
|
|
|
NM_001875.5(CPS1):c.2959+14T>A
|
|
|
NM_001875.5(CPS1):c.2959+16A>T
|
|
|
NM_001875.5(CPS1):c.2959+19T>G
|
|
|
NM_001875.5(CPS1):c.2959+8_2959+14del
|
rs765645129
|
|
NM_001875.5(CPS1):c.2959+9A>G
|
rs1250053139
|
|
NM_001875.5(CPS1):c.2959+9A>T
|
rs1250053139
|
|
NM_001875.5(CPS1):c.2960-10G>A
|
rs2105901496
|
|
NM_001875.5(CPS1):c.2960-13A>C
|
|
|
NM_001875.5(CPS1):c.2960-20C>T
|
|
|
NM_001875.5(CPS1):c.2960-9T>C
|
|
|
NM_001875.5(CPS1):c.2970G>A (p.Val990=)
|
rs1700256865
|
|
NM_001875.5(CPS1):c.2973A>G (p.Glu991=)
|
|
|
NM_001875.5(CPS1):c.297T>G (p.Pro99=)
|
|
|
NM_001875.5(CPS1):c.2991C>G (p.Val997=)
|
|
|
NM_001875.5(CPS1):c.2994T>G (p.Ser998=)
|
rs1574632330
|
|
NM_001875.5(CPS1):c.2997T>C (p.Ser999=)
|
rs766849843
|
|
NM_001875.5(CPS1):c.3000C>A (p.Ile1000=)
|
rs1700258062
|
|
NM_001875.5(CPS1):c.3007C>T (p.Leu1003=)
|
rs1700258434
|
|
NM_001875.5(CPS1):c.3015A>G (p.Gln1005=)
|
|
|
NM_001875.5(CPS1):c.3025A>C (p.Lys1009Gln)
|
|
|
NM_001875.5(CPS1):c.3030G>C (p.Thr1010=)
|
|
|
NM_001875.5(CPS1):c.3036G>A (p.Val1012=)
|
|
|
NM_001875.5(CPS1):c.3042T>C (p.Asn1014=)
|
rs2105901623
|
|
NM_001875.5(CPS1):c.3045C>T (p.Cys1015=)
|
rs376618188
|
|
NM_001875.5(CPS1):c.3057T>A (p.Thr1019=)
|
rs150601728
|
|
NM_001875.5(CPS1):c.3075T>C (p.Asp1025=)
|
|
|
NM_001875.5(CPS1):c.3084C>T (p.Asp1028=)
|
|
|
NM_001875.5(CPS1):c.3088C>T (p.Leu1030=)
|
rs2105901680
|
|
NM_001875.5(CPS1):c.3096T>C (p.Phe1032=)
|
rs2105901699
|
|
NM_001875.5(CPS1):c.3114G>A (p.Glu1038=)
|
rs2105901711
|
|
NM_001875.5(CPS1):c.3120C>T (p.Ile1040=)
|
|
|
NM_001875.5(CPS1):c.3126C>T (p.Asp1042=)
|
rs1358993534
|
|
NM_001875.5(CPS1):c.3141+10G>C
|
|
|
NM_001875.5(CPS1):c.3141+15_3141+16insG
|
|
|
NM_001875.5(CPS1):c.3141+16del
|
|
|
NM_001875.5(CPS1):c.3141+17A>T
|
|
|
NM_001875.5(CPS1):c.3141+18G>A
|
|
|
NM_001875.5(CPS1):c.3142-17G>T
|
|
|
NM_001875.5(CPS1):c.3142-19T>C
|
|
|
NM_001875.5(CPS1):c.3142-4C>A
|
|
|
NM_001875.5(CPS1):c.3149G>A (p.Gly1050Asp)
|
|
|
NM_001875.5(CPS1):c.3183A>G (p.Pro1061=)
|
rs2105907892
|
|
NM_001875.5(CPS1):c.3190C>T (p.Leu1064=)
|
|
|
NM_001875.5(CPS1):c.3204A>C (p.Leu1068=)
|
rs766909251
|
|
NM_001875.5(CPS1):c.3207C>T (p.Tyr1069=)
|
|
|
NM_001875.5(CPS1):c.3210G>A (p.Lys1070=)
|
rs1406035411
|
|
NM_001875.5(CPS1):c.3216T>C (p.Gly1072=)
|
rs1574638509
|
|
NM_001875.5(CPS1):c.3225C>T (p.Ile1075=)
|
rs1164414139
|
|
NM_001875.5(CPS1):c.3237C>T (p.Ser1079=)
|
|
|
NM_001875.5(CPS1):c.3242T>C (p.Leu1081Pro)
|
|
|
NM_001875.5(CPS1):c.3249C>T (p.Ile1083=)
|
rs751008875
|
|
NM_001875.5(CPS1):c.3261G>A (p.Glu1087=)
|
|
|
NM_001875.5(CPS1):c.3267C>T (p.Arg1089=)
|
|
|
NM_001875.5(CPS1):c.3276C>T (p.Phe1092=)
|
|
|
NM_001875.5(CPS1):c.3279A>T (p.Ser1093=)
|
|
|
NM_001875.5(CPS1):c.3282T>A (p.Ala1094=)
|
|
|
NM_001875.5(CPS1):c.3285C>T (p.Val1095=)
|
|
|
NM_001875.5(CPS1):c.330T>C (p.Thr110=)
|
rs777617670
|
|
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)
|
rs761921978
|
|
NM_001875.5(CPS1):c.3330T>C (p.Asn1110=)
|
|
|
NM_001875.5(CPS1):c.3334T>C (p.Leu1112=)
|
rs1700437349
|
|
NM_001875.5(CPS1):c.3336+10G>T
|
rs1233070918
|
|
NM_001875.5(CPS1):c.3336+13A>G
|
|
|
NM_001875.5(CPS1):c.3336+16A>C
|
|
|
NM_001875.5(CPS1):c.3336+16A>T
|
|
|
NM_001875.5(CPS1):c.3336+18T>A
|
|
|
NM_001875.5(CPS1):c.3336+18T>G
|
|
|
NM_001875.5(CPS1):c.3336+7A>G
|
rs1574638794
|
|
NM_001875.5(CPS1):c.3337-14T>C
|
|
|
NM_001875.5(CPS1):c.3337-14T>G
|
|
|
NM_001875.5(CPS1):c.3337-17T>C
|
|
|
NM_001875.5(CPS1):c.3337-18G>A
|
|
|
NM_001875.5(CPS1):c.3337-8T>C
|
|
|
NM_001875.5(CPS1):c.3337-9A>T
|
|
|
NM_001875.5(CPS1):c.334C>G (p.Leu112Val)
|
|
|
NM_001875.5(CPS1):c.334C>T (p.Leu112=)
|
rs149675371
|
|
NM_001875.5(CPS1):c.336G>C (p.Leu112=)
|
rs2106079689
|
|
NM_001875.5(CPS1):c.3375C>T (p.Pro1125=)
|
rs1381512911
|
|
NM_001875.5(CPS1):c.3381G>A (p.Leu1127=)
|
|
|
NM_001875.5(CPS1):c.3382T>C (p.Leu1128=)
|
|
|
NM_001875.5(CPS1):c.3393C>T (p.Ser1131=)
|
|
|
NM_001875.5(CPS1):c.3396T>C (p.Tyr1132=)
|
rs1356882838
|
|
NM_001875.5(CPS1):c.3399T>C (p.Val1133=)
|
rs1700456740
|
|
NM_001875.5(CPS1):c.33G>A (p.Val11=)
|
rs1696925949
|
|
NM_001875.5(CPS1):c.3404+10T>C
|
rs750058063
|
|
NM_001875.5(CPS1):c.3404+18T>G
|
|
|
NM_001875.5(CPS1):c.3404+7C>G
|
|
|
NM_001875.5(CPS1):c.3405-13C>A
|
|
|
NM_001875.5(CPS1):c.3405-17T>C
|
|
|
NM_001875.5(CPS1):c.3405-4C>G
|
|
|
NM_001875.5(CPS1):c.3405-9C>T
|
rs2105910915
|
|
NM_001875.5(CPS1):c.3408G>T (p.Gly1136=)
|
|
|
NM_001875.5(CPS1):c.3426A>G (p.Val1142=)
|
rs1700522774
|
|
NM_001875.5(CPS1):c.3438T>C (p.Asp1146=)
|
|
|
NM_001875.5(CPS1):c.3447A>G (p.Lys1149=)
|
rs1472914107
|
|
NM_001875.5(CPS1):c.3450A>G (p.Lys1150=)
|
rs2105911004
|
|
NM_001875.5(CPS1):c.3451T>C (p.Phe1151Leu)
|
|
|
NM_001875.5(CPS1):c.3454C>T (p.Leu1152=)
|
|
|
NM_001875.5(CPS1):c.3456A>C (p.Leu1152=)
|
|
|
NM_001875.5(CPS1):c.3456A>G (p.Leu1152=)
|
|
|
NM_001875.5(CPS1):c.3462G>A (p.Glu1154=)
|
|
|
NM_001875.5(CPS1):c.3465G>A (p.Ala1155=)
|
rs772806744
|
|
NM_001875.5(CPS1):c.3465G>T (p.Ala1155=)
|
|
|
NM_001875.5(CPS1):c.3471A>G (p.Arg1157=)
|
rs2105911036
|
|
NM_001875.5(CPS1):c.3477T>G (p.Ser1159=)
|
|
|
NM_001875.5(CPS1):c.3480+15C>A
|
|
|
NM_001875.5(CPS1):c.3480+18T>G
|
|
|
NM_001875.5(CPS1):c.3480+7T>C
|
|
|
NM_001875.5(CPS1):c.3480+9C>T
|
|
|
NM_001875.5(CPS1):c.3481-11C>T
|
|
|
NM_001875.5(CPS1):c.3481-12C>T
|
|
|
NM_001875.5(CPS1):c.3481-7G>C
|
rs368909569
|
|
NM_001875.5(CPS1):c.3489A>G (p.Pro1163=)
|
rs1574646028
|
|
NM_001875.5(CPS1):c.348A>G (p.Gly116=)
|
|
|
NM_001875.5(CPS1):c.3498G>A (p.Leu1166=)
|
rs1342564191
|
|
NM_001875.5(CPS1):c.3498G>C (p.Leu1166=)
|
|
|
NM_001875.5(CPS1):c.3510T>C (p.Val1170=)
|
|
|
NM_001875.5(CPS1):c.3510T>G (p.Val1170=)
|
rs2105914973
|
|
NM_001875.5(CPS1):c.3513A>G (p.Glu1171=)
|
rs750625969
|
|
NM_001875.5(CPS1):c.3520C>A (p.Arg1174=)
|
rs756337473
|
|
NM_001875.5(CPS1):c.3543T>C (p.Val1181=)
|
|
|
NM_001875.5(CPS1):c.3552T>C (p.Asp1184=)
|
rs769391518
|
|
NM_001875.5(CPS1):c.3558+11dup
|
rs2105915101
|
|
NM_001875.5(CPS1):c.3558+15C>A
|
|
|
NM_001875.5(CPS1):c.3558+17C>T
|
|
|
NM_001875.5(CPS1):c.3558+18A>G
|
|
|
NM_001875.5(CPS1):c.3558+20C>G
|
|
|
NM_001875.5(CPS1):c.3558+7G>C
|
rs764456030
|
|
NM_001875.5(CPS1):c.3559-15T>G
|
|
|
NM_001875.5(CPS1):c.3559-16T>A
|
|
|
NM_001875.5(CPS1):c.3559-16T>C
|
|
|
NM_001875.5(CPS1):c.3559-17T>A
|
|
|
NM_001875.5(CPS1):c.3559-20T>C
|
rs1181977935
|
|
NM_001875.5(CPS1):c.3559-7_3559-6del
|
|
|
NM_001875.5(CPS1):c.3573C>T (p.Ala1191=)
|
|
|
NM_001875.5(CPS1):c.3576C>A (p.Ile1192=)
|
rs1204885910
|
|
NM_001875.5(CPS1):c.3579T>C (p.Ser1193=)
|
|
|
NM_001875.5(CPS1):c.3597A>C (p.Ala1199=)
|
rs2105917877
|
|
NM_001875.5(CPS1):c.3609G>T (p.Ser1203=)
|
rs148237524
|
|
NM_001875.5(CPS1):c.3622C>A (p.Leu1208Met)
|
|
|
NM_001875.5(CPS1):c.3622C>T (p.Leu1208=)
|
rs755531304
|
|
NM_001875.5(CPS1):c.3628C>T (p.Leu1210=)
|
rs1700715964
|
|
NM_001875.5(CPS1):c.3633C>T (p.Pro1211=)
|
rs2105917938
|
|
NM_001875.5(CPS1):c.3634A>G (p.Thr1212Ala)
|
|
|
NM_001875.5(CPS1):c.3651A>G (p.Gln1217=)
|
|
|
NM_001875.5(CPS1):c.3655G>A (p.Ala1219Thr)
|
|
|
NM_001875.5(CPS1):c.3666+12T>C
|
|
|
NM_001875.5(CPS1):c.3666+8T>C
|
rs2105918017
|
|
NM_001875.5(CPS1):c.3667-12T>A
|
|
|
NM_001875.5(CPS1):c.3667-12T>G
|
|
|
NM_001875.5(CPS1):c.3667-15T>C
|
|
|
NM_001875.5(CPS1):c.3669G>A (p.Val1223=)
|
|
|
NM_001875.5(CPS1):c.3672G>A (p.Lys1224=)
|
rs373326677
|
|
NM_001875.5(CPS1):c.3687G>A (p.Lys1229=)
|
rs115897023
|
|
NM_001875.5(CPS1):c.3696G>A (p.Lys1232=)
|
|
|
NM_001875.5(CPS1):c.3711T>C (p.Ser1237=)
|
rs1559131877
|
|
NM_001875.5(CPS1):c.3714T>C (p.Gly1238=)
|
|
|
NM_001875.5(CPS1):c.3720C>T (p.Phe1240=)
|
rs2105920654
|
|
NM_001875.5(CPS1):c.372T>C (p.Asn124=)
|
|
|
NM_001875.5(CPS1):c.3753C>G (p.Val1251=)
|
|
|
NM_001875.5(CPS1):c.3756+13A>G
|
|
|
NM_001875.5(CPS1):c.3756+9T>A
|
rs2105920715
|
|
NM_001875.5(CPS1):c.3757-13T>C
|
|
|
NM_001875.5(CPS1):c.3757-17G>C
|
|
|
NM_001875.5(CPS1):c.3757-19T>G
|
|
|
NM_001875.5(CPS1):c.3757-7T>C
|
rs1574654116
|
|
NM_001875.5(CPS1):c.375A>G (p.Gly125=)
|
rs1697717041
|
|
NM_001875.5(CPS1):c.3765G>A (p.Glu1255=)
|
|
|
NM_001875.5(CPS1):c.3771C>T (p.Asn1257=)
|
|
|
NM_001875.5(CPS1):c.3780T>C (p.Ala1260=)
|
rs2105922887
|
|
NM_001875.5(CPS1):c.3786A>G (p.Arg1262=)
|
|
|
NM_001875.5(CPS1):c.378C>A (p.Ile126=)
|
|
|
NM_001875.5(CPS1):c.3792C>T (p.Phe1264=)
|
|
|
NM_001875.5(CPS1):c.3804C>T (p.Ser1268=)
|
|
|
NM_001875.5(CPS1):c.381+14T>C
|
|
|
NM_001875.5(CPS1):c.381+14T>G
|
|
|
NM_001875.5(CPS1):c.381+16G>C
|
|
|
NM_001875.5(CPS1):c.381+9A>C
|
rs1447837168
|
|
NM_001875.5(CPS1):c.381+9A>G
|
rs1447837168
|
|
NM_001875.5(CPS1):c.3810T>C (p.Thr1270=)
|
|
|
NM_001875.5(CPS1):c.382-10_382-7del
|
rs1354079241
|
|
NM_001875.5(CPS1):c.382-11T>C
|
|
|
NM_001875.5(CPS1):c.382-6T>G
|
|
|
NM_001875.5(CPS1):c.382-7T>C
|
rs1449373331
|
|
NM_001875.5(CPS1):c.382-8C>T
|
|
|
NM_001875.5(CPS1):c.3840C>T (p.Thr1280=)
|
|
|
NM_001875.5(CPS1):c.3843G>A (p.Lys1281=)
|
|
|
NM_001875.5(CPS1):c.3858G>A (p.Glu1286=)
|
|
|
NM_001875.5(CPS1):c.3864T>C (p.Val1288=)
|
rs2105923010
|
|
NM_001875.5(CPS1):c.3870G>A (p.Glu1290=)
|
|
|
NM_001875.5(CPS1):c.3882A>G (p.Pro1294=)
|
|
|
NM_001875.5(CPS1):c.3886T>C (p.Leu1296=)
|
rs763535883
|
|
NM_001875.5(CPS1):c.3897C>T (p.Pro1299=)
|
rs1167952434
|
|
NM_001875.5(CPS1):c.3903T>A (p.Ile1301=)
|
rs2105923081
|
|
NM_001875.5(CPS1):c.3906T>G (p.Pro1302=)
|
rs750884050
|
|
NM_001875.5(CPS1):c.3909T>C (p.Ala1303=)
|
rs200579952
|
|
NM_001875.5(CPS1):c.3909T>G (p.Ala1303=)
|
rs200579952
|
|
NM_001875.5(CPS1):c.3915T>C (p.Tyr1305=)
|
|
|
NM_001875.5(CPS1):c.3918T>C (p.Val1306=)
|
|
|
NM_001875.5(CPS1):c.3927+11C>A
|
|
|
NM_001875.5(CPS1):c.3927+11C>T
|
|
|
NM_001875.5(CPS1):c.3927+18T>G
|
|
|
NM_001875.5(CPS1):c.3927+19T>C
|
|
|
NM_001875.5(CPS1):c.3927+20A>G
|
|
|
NM_001875.5(CPS1):c.3927+20A>T
|
|
|
NM_001875.5(CPS1):c.3927+9T>C
|
rs2105923157
|
|
NM_001875.5(CPS1):c.3928-10T>C
|
rs1700977284
|
|
NM_001875.5(CPS1):c.3928-16T>A
|
|
|
NM_001875.5(CPS1):c.3928-19T>A
|
|
|
NM_001875.5(CPS1):c.3928-19T>G
|
rs77561958
|
|
NM_001875.5(CPS1):c.3928-20del
|
|
|
NM_001875.5(CPS1):c.3928-22_3928-20del
|
rs1700976248
|
|
NM_001875.5(CPS1):c.3928-4A>T
|
|
|
NM_001875.5(CPS1):c.3928-6C>T
|
rs1266870551
|
|
NM_001875.5(CPS1):c.3928-8_3928-7del
|
|
|
NM_001875.5(CPS1):c.3928-8dup
|
|
|
NM_001875.5(CPS1):c.3948C>G (p.Pro1316=)
|
rs777916457
|
|
NM_001875.5(CPS1):c.394C>T (p.Leu132=)
|
rs2106081624
|
|
NM_001875.5(CPS1):c.3951G>T (p.Arg1317=)
|
|
|
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val)
|
rs769593170
|
|
NM_001875.5(CPS1):c.3955A>C (p.Arg1319=)
|
rs779756304
|
|
NM_001875.5(CPS1):c.3960T>C (p.Asp1320=)
|
rs1233768209
|
|
NM_001875.5(CPS1):c.3966C>T (p.Asp1322=)
|
rs2105926163
|
|
NM_001875.5(CPS1):c.3984G>A (p.Glu1328=)
|
rs1225017097
|
|
NM_001875.5(CPS1):c.3993C>T (p.Ser1331=)
|
rs2105926215
|
|
NM_001875.5(CPS1):c.39A>C (p.Thr13=)
|
rs755098080
|
|
NM_001875.5(CPS1):c.4002+11A>G
|
|
|
NM_001875.5(CPS1):c.4002+19A>G
|
|
|
NM_001875.5(CPS1):c.4003-12A>G
|
rs534566099
|
|
NM_001875.5(CPS1):c.4003-15T>C
|
rs2105932989
|
|
NM_001875.5(CPS1):c.4003-16A>G
|
|
|
NM_001875.5(CPS1):c.4003-7T>C
|
|
|
NM_001875.5(CPS1):c.4005G>T (p.Val1335=)
|
rs2105932999
|
|
NM_001875.5(CPS1):c.4026T>C (p.Ile1342=)
|
|
|
NM_001875.5(CPS1):c.4029T>C (p.His1343=)
|
rs1286982785
|
|
NM_001875.5(CPS1):c.4035C>T (p.Ala1345=)
|
|
|
NM_001875.5(CPS1):c.4051C>T (p.Leu1351Phe)
|
|
|
NM_001875.5(CPS1):c.4056C>T (p.Ser1352=)
|
|
|
NM_001875.5(CPS1):c.4077G>A (p.Gln1359=)
|
|
|
NM_001875.5(CPS1):c.4089G>C (p.Leu1363=)
|
rs368890059
|
|
NM_001875.5(CPS1):c.4102-11T>C
|
|
|
NM_001875.5(CPS1):c.4102-14A>T
|
|
|
NM_001875.5(CPS1):c.4102-8C>G
|
|
|
NM_001875.5(CPS1):c.4102-9C>G
|
|
|
NM_001875.5(CPS1):c.4111C>A (p.Arg1371=)
|
|
|
NM_001875.5(CPS1):c.4111C>T (p.Arg1371Trp)
|
|
|
NM_001875.5(CPS1):c.4117A>C (p.Arg1373=)
|
|
|
NM_001875.5(CPS1):c.4122C>T (p.Phe1374=)
|
rs1351524107
|
|
NM_001875.5(CPS1):c.4125T>C (p.Leu1375=)
|
rs2105942839
|
|
NM_001875.5(CPS1):c.4128T>C (p.Gly1376=)
|
rs777517524
|
|
NM_001875.5(CPS1):c.4161+13_4161+17del
|
|
|
NM_001875.5(CPS1):c.4161+18A>C
|
|
|
NM_001875.5(CPS1):c.4161+20G>A
|
|
|
NM_001875.5(CPS1):c.4162-13A>G
|
|
|
NM_001875.5(CPS1):c.4162-16T>C
|
|
|
NM_001875.5(CPS1):c.4162-19T>G
|
|
|
NM_001875.5(CPS1):c.4162-20T>C
|
|
|
NM_001875.5(CPS1):c.4162-4G>A
|
rs2105944013
|
|
NM_001875.5(CPS1):c.4182A>C (p.Thr1394=)
|
rs2105944072
|
|
NM_001875.5(CPS1):c.4197C>T (p.Asn1399=)
|
rs548201746
|
|
NM_001875.5(CPS1):c.4209C>A (p.Val1403=)
|
|
|
NM_001875.5(CPS1):c.420C>T (p.Tyr140=)
|
|
|
NM_001875.5(CPS1):c.4221A>T (p.Pro1407=)
|
rs1252997852
|
|
NM_001875.5(CPS1):c.4224G>C (p.Val1408=)
|
rs2105944167
|
|
NM_001875.5(CPS1):c.4227A>C (p.Ala1409=)
|
rs1574678932
|
|
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)
|
|
|
NM_001875.5(CPS1):c.4239A>G (p.Gln1413=)
|
|
|
NM_001875.5(CPS1):c.4248G>A (p.Gln1416=)
|
|
|
NM_001875.5(CPS1):c.4254C>T (p.Pro1418=)
|
|
|
NM_001875.5(CPS1):c.4266C>T (p.Ser1422=)
|
rs1389889942
|
|
NM_001875.5(CPS1):c.4274+10A>C
|
rs1701512309
|
|
NM_001875.5(CPS1):c.4274+10A>G
|
|
|
NM_001875.5(CPS1):c.4274+12G>A
|
|
|
NM_001875.5(CPS1):c.4274+14A>G
|
|
|
NM_001875.5(CPS1):c.4274+16A>T
|
|
|
NM_001875.5(CPS1):c.4274+19G>A
|
|
|
NM_001875.5(CPS1):c.4274+20T>C
|
|
|
NM_001875.5(CPS1):c.4274+8C>A
|
|
|
NM_001875.5(CPS1):c.4274+8C>T
|
rs753409248
|
|
NM_001875.5(CPS1):c.4275-13T>C
|
|
|
NM_001875.5(CPS1):c.4275-15T>G
|
rs2105945904
|
|
NM_001875.5(CPS1):c.4275-16T>C
|
|
|
NM_001875.5(CPS1):c.4275-6T>C
|
rs2105945922
|
|
NM_001875.5(CPS1):c.4275-7T>C
|
|
|
NM_001875.5(CPS1):c.4312C>A (p.Leu1438Ile)
|
|
|
NM_001875.5(CPS1):c.4317C>T (p.Pro1439=)
|
rs534152112
|
|
NM_001875.5(CPS1):c.4320C>T (p.Asn1440=)
|
|
|
NM_001875.5(CPS1):c.4332A>G (p.Lys1444=)
|
rs2105946027
|
|
NM_001875.5(CPS1):c.4357C>A (p.Arg1453=)
|
|
|
NM_001875.5(CPS1):c.4365A>G (p.Thr1455=)
|
|
|
NM_001875.5(CPS1):c.4368T>G (p.Ala1456=)
|
|
|
NM_001875.5(CPS1):c.4371T>A (p.Val1457=)
|
|
|
NM_001875.5(CPS1):c.4371T>C (p.Val1457=)
|
|
|
NM_001875.5(CPS1):c.4374T>C (p.Asp1458=)
|
rs1701560758
|
|
NM_001875.5(CPS1):c.4377T>C (p.Ser1459=)
|
rs2105946112
|
|
NM_001875.5(CPS1):c.4383C>T (p.Ile1461=)
|
rs1160139631
|
|
NM_001875.5(CPS1):c.4389C>T (p.Leu1463=)
|
|
|
NM_001875.5(CPS1):c.4392C>T (p.Leu1464=)
|
|
|
NM_001875.5(CPS1):c.4395T>C (p.Thr1465=)
|
|
|
NM_001875.5(CPS1):c.4404+11T>C
|
|
|
NM_001875.5(CPS1):c.4404+19A>G
|
|
|
NM_001875.5(CPS1):c.4404+8C>A
|
|
|
NM_001875.5(CPS1):c.4405-10A>G
|
|
|
NM_001875.5(CPS1):c.4405-14C>T
|
|
|
NM_001875.5(CPS1):c.4405-15C>T
|
|
|
NM_001875.5(CPS1):c.4405-8A>C
|
|
|
NM_001875.5(CPS1):c.4413A>G (p.Lys1471=)
|
|
|
NM_001875.5(CPS1):c.4422T>C (p.Ala1474=)
|
|
|
NM_001875.5(CPS1):c.4428T>G (p.Ala1476=)
|
|
|
NM_001875.5(CPS1):c.4437A>G (p.Lys1479=)
|
|
|
NM_001875.5(CPS1):c.4442G>A (p.Arg1481His)
|
|
|
NM_001875.5(CPS1):c.4449G>A (p.Val1483=)
|
|
|
NM_001875.5(CPS1):c.4470C>T (p.His1490=)
|
|
|
NM_001875.5(CPS1):c.4476G>A (p.Arg1492=)
|
|
|
NM_001875.5(CPS1):c.4479G>A (p.Gln1493=)
|
|
|
NM_001875.5(CPS1):c.4494A>G (p.Lys1498=)
|
rs2105947204
|
|
NM_001875.5(CPS1):c.4500A>G (p.Ala1500=)
|
|
|
NM_001875.5(CPS1):c.450G>A (p.Gly150=)
|
|
|
NM_001875.5(CPS1):c.450G>T (p.Gly150=)
|
|
|
NM_001875.5(CPS1):c.459A>C (p.Leu153=)
|
|
|
NM_001875.5(CPS1):c.459A>G (p.Leu153=)
|
rs2106081768
|
|
NM_001875.5(CPS1):c.45G>A (p.Lys15=)
|
|
|
NM_001875.5(CPS1):c.462G>A (p.Gln154=)
|
rs2106081775
|
|
NM_001875.5(CPS1):c.465A>G (p.Glu155=)
|
|
|
NM_001875.5(CPS1):c.471+10G>A
|
|
|
NM_001875.5(CPS1):c.471+18G>A
|
|
|
NM_001875.5(CPS1):c.471+9T>C
|
rs1697753704
|
|
NM_001875.5(CPS1):c.472-16A>C
|
|
|
NM_001875.5(CPS1):c.472-17C>T
|
|
|
NM_001875.5(CPS1):c.472-19T>C
|
|
|
NM_001875.5(CPS1):c.472-4A>G
|
|
|
NM_001875.5(CPS1):c.481A>G (p.Ile161Val)
|
|
|
NM_001875.5(CPS1):c.513A>G (p.Lys171=)
|
|
|
NM_001875.5(CPS1):c.528+10T>A
|
|
|
NM_001875.5(CPS1):c.528+10T>C
|
rs772104742
|
|
NM_001875.5(CPS1):c.528+11C>T
|
|
|
NM_001875.5(CPS1):c.528+12A>G
|
|
|
NM_001875.5(CPS1):c.528+17T>C
|
|
|
NM_001875.5(CPS1):c.529-15T>A
|
rs947763938
|
|
NM_001875.5(CPS1):c.529-15T>G
|
|
|
NM_001875.5(CPS1):c.529-20T>G
|
|
|
NM_001875.5(CPS1):c.529-5G>T
|
|
|
NM_001875.5(CPS1):c.529-6T>C
|
|
|
NM_001875.5(CPS1):c.531T>A (p.Gly177=)
|
rs374019321
|
|
NM_001875.5(CPS1):c.543G>A (p.Gly181=)
|
rs2106091897
|
|
NM_001875.5(CPS1):c.546G>A (p.Lys182=)
|
|
|
NM_001875.5(CPS1):c.552A>G (p.Glu184=)
|
rs2106091934
|
|
NM_001875.5(CPS1):c.567T>A (p.Pro189=)
|
|
|
NM_001875.5(CPS1):c.57C>T (p.Gly19=)
|
rs2106037275
|
|
NM_001875.5(CPS1):c.618C>A (p.Thr206=)
|
rs1697965317
|
|
NM_001875.5(CPS1):c.621+13C>T
|
|
|
NM_001875.5(CPS1):c.621+17T>G
|
|
|
NM_001875.5(CPS1):c.621+7G>A
|
|
|
NM_001875.5(CPS1):c.622-11T>C
|
|
|
NM_001875.5(CPS1):c.622-4dup
|
|
|
NM_001875.5(CPS1):c.642A>G (p.Lys214=)
|
rs2106103827
|
|
NM_001875.5(CPS1):c.654A>G (p.Thr218=)
|
|
|
NM_001875.5(CPS1):c.654A>T (p.Thr218=)
|
|
|
NM_001875.5(CPS1):c.660G>T (p.Val220=)
|
rs2106103871
|
|
NM_001875.5(CPS1):c.669A>G (p.Val223=)
|
rs2106103890
|
|
NM_001875.5(CPS1):c.66T>C (p.Asn22=)
|
rs2106037321
|
|
NM_001875.5(CPS1):c.672C>T (p.Asp224=)
|
|
|
NM_001875.5(CPS1):c.675T>C (p.Cys225=)
|
rs2106103901
|
|
NM_001875.5(CPS1):c.678G>A (p.Gly226=)
|
|
|
NM_001875.5(CPS1):c.687C>T (p.Asn229=)
|
|
|
NM_001875.5(CPS1):c.693A>C (p.Val231=)
|
|
|
NM_001875.5(CPS1):c.696C>A (p.Ile232=)
|
|
|
NM_001875.5(CPS1):c.700C>T (p.Leu234=)
|
|
|
NM_001875.5(CPS1):c.705A>G (p.Leu235=)
|
rs1574558005
|
|
NM_001875.5(CPS1):c.708A>C (p.Val236=)
|
rs2106103973
|
|
NM_001875.5(CPS1):c.711+15C>A
|
|
|
NM_001875.5(CPS1):c.711+15C>T
|
|
|
NM_001875.5(CPS1):c.711+16A>G
|
|
|
NM_001875.5(CPS1):c.711+18T>G
|
|
|
NM_001875.5(CPS1):c.711+7A>G
|
rs756703955
|
|
NM_001875.5(CPS1):c.711+8A>G
|
rs2106104009
|
|
NM_001875.5(CPS1):c.712-11C>G
|
|
|
NM_001875.5(CPS1):c.712-16del
|
|
|
NM_001875.5(CPS1):c.712-18C>T
|
|
|
NM_001875.5(CPS1):c.712-8T>C
|
|
|
NM_001875.5(CPS1):c.717A>G (p.Gly239=)
|
rs1220254817
|
|
NM_001875.5(CPS1):c.720T>C (p.Ala240=)
|
|
|
NM_001875.5(CPS1):c.726G>T (p.Val242=)
|
|
|
NM_001875.5(CPS1):c.729C>G (p.His243Gln)
|
|
|
NM_001875.5(CPS1):c.730T>C (p.Leu244=)
|
rs1698241536
|
|
NM_001875.5(CPS1):c.738C>T (p.Pro246=)
|
rs1698242132
|
|
NM_001875.5(CPS1):c.747T>C (p.His249=)
|
rs1574560501
|
|
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
|
|
|
NM_001875.5(CPS1):c.74C>T (p.Ala25Val)
|
rs149570645
|
|
NM_001875.5(CPS1):c.753C>T (p.Phe251=)
|
rs2106107631
|
|
NM_001875.5(CPS1):c.754A>G (p.Thr252Ala)
|
|
|
NM_001875.5(CPS1):c.763G>A (p.Glu255Lys)
|
|
|
NM_001875.5(CPS1):c.768T>C (p.Tyr256=)
|
rs2106107683
|
|
NM_001875.5(CPS1):c.783C>A (p.Ile261=)
|
|
|
NM_001875.5(CPS1):c.784G>A (p.Ala262Thr)
|
|
|
NM_001875.5(CPS1):c.786G>T (p.Ala262=)
|
|
|
NM_001875.5(CPS1):c.78C>T (p.His26=)
|
rs745616278
|
|
NM_001875.5(CPS1):c.801C>T (p.Asn267=)
|
|
|
NM_001875.5(CPS1):c.813A>C (p.Ala271=)
|
rs964016238
|
|
NM_001875.5(CPS1):c.816A>G (p.Glu272=)
|
rs1559092314
|
|
NM_001875.5(CPS1):c.817C>G (p.Pro273Ala)
|
|
|
NM_001875.5(CPS1):c.819A>C (p.Pro273=)
|
|
|
NM_001875.5(CPS1):c.840+11C>T
|
|
|
NM_001875.5(CPS1):c.840+12C>T
|
|
|
NM_001875.5(CPS1):c.840+7T>C
|
|
|
NM_001875.5(CPS1):c.840+9A>G
|
rs754876051
|
|
NM_001875.5(CPS1):c.841-10C>G
|
rs766131653
|
|
NM_001875.5(CPS1):c.841-13C>A
|
|
|
NM_001875.5(CPS1):c.841-18A>C
|
|
|
NM_001875.5(CPS1):c.841-8T>C
|
|
|
NM_001875.5(CPS1):c.841-9C>T
|
|
|
NM_001875.5(CPS1):c.857G>A (p.Arg286His)
|
|
|
NM_001875.5(CPS1):c.864G>A (p.Glu288=)
|
|
|
NM_001875.5(CPS1):c.876A>T (p.Gly292=)
|
rs2106108942
|
|
NM_001875.5(CPS1):c.879C>T (p.Ile293=)
|
|
|
NM_001875.5(CPS1):c.882T>C (p.Ser294=)
|
rs781583758
|
|
NM_001875.5(CPS1):c.888A>G (p.Gly296=)
|
|
|
NM_001875.5(CPS1):c.906G>C (p.Leu302Phe)
|
|
|
NM_001875.5(CPS1):c.911C>T (p.Ala304Val)
|
|
|
NM_001875.5(CPS1):c.924C>G (p.Thr308=)
|
|
|
NM_001875.5(CPS1):c.927C>T (p.Tyr309=)
|
rs1553511083
|
|
NM_001875.5(CPS1):c.945C>T (p.Asn315=)
|
|
|
NM_001875.5(CPS1):c.948-14C>T
|
|
|
NM_001875.5(CPS1):c.948-16C>A
|
|
|
NM_001875.5(CPS1):c.948-18_948-17del
|
|
|
NM_001875.5(CPS1):c.948-4C>A
|
|
|
NM_001875.5(CPS1):c.948-4C>T
|
|
|
NM_001875.5(CPS1):c.948-6del
|
|
|
NM_001875.5(CPS1):c.948-7T>C
|
|
|
NM_001875.5(CPS1):c.951G>A (p.Gly317=)
|
rs2106110944
|
|
NM_001875.5(CPS1):c.960G>A (p.Gln320=)
|
rs184908948
|
|
NM_001875.5(CPS1):c.975C>T (p.Ile325=)
|
rs749977878
|
|
NM_001875.5(CPS1):c.981C>T (p.Asn327=)
|
|
|
NM_001875.5(CPS1):c.984A>G (p.Lys328=)
|
|
|
NM_001875.5(CPS1):c.990T>C (p.Ala330=)
|
rs2106111046
|
|
NM_001875.5(CPS1):c.9G>A (p.Arg3=)
|
rs2106037152
|
|
NM_001876.4(CPT1A):c.1002C>T (p.Ile334=)
|
rs150511642
|
|
NM_001876.4(CPT1A):c.1005C>T (p.Val335=)
|
|
|
NM_001876.4(CPT1A):c.1032G>A (p.Lys344=)
|
|
|
NM_001876.4(CPT1A):c.1041C>T (p.Leu347=)
|
rs907655340
|
|
NM_001876.4(CPT1A):c.1047T>C (p.His349=)
|
rs2153998399
|
|
NM_001876.4(CPT1A):c.1050T>C (p.Asp350=)
|
|
|
NM_001876.4(CPT1A):c.1053G>A (p.Gly351=)
|
rs1594337533
|
|
NM_001876.4(CPT1A):c.1056G>A (p.Arg352=)
|
rs2153998396
|
|
NM_001876.4(CPT1A):c.1057C>T (p.Leu353=)
|
|
|
NM_001876.4(CPT1A):c.1065G>A (p.Lys355=)
|
rs959723300
|
|
NM_001876.4(CPT1A):c.1080G>A (p.Glu360=)
|
rs1035252133
|
|
NM_001876.4(CPT1A):c.1098C>A (p.Ile366=)
|
rs1855413826
|
|
NM_001876.4(CPT1A):c.1098C>T (p.Ile366=)
|
|
|
NM_001876.4(CPT1A):c.1099C>T (p.Leu367=)
|
rs1367006911
|
|
NM_001876.4(CPT1A):c.1101G>A (p.Leu367=)
|
|
|
NM_001876.4(CPT1A):c.1104C>T (p.Asp368=)
|
rs2153998382
|
|
NM_001876.4(CPT1A):c.111T>C (p.His37=)
|
|
|
NM_001876.4(CPT1A):c.1125C>T (p.Pro375=)
|
|
|
NM_001876.4(CPT1A):c.1131G>A (p.Glu377=)
|
rs1215645933
|
|
NM_001876.4(CPT1A):c.1163+12A>G
|
|
|
NM_001876.4(CPT1A):c.1163+18C>T
|
|
|
NM_001876.4(CPT1A):c.1163+20T>C
|
|
|
NM_001876.4(CPT1A):c.1163+5G>A
|
rs140999795
|
|
NM_001876.4(CPT1A):c.1163+8G>A
|
rs768943458
|
|
NM_001876.4(CPT1A):c.1164-13A>G
|
|
|
NM_001876.4(CPT1A):c.1164-14C>T
|
|
|
NM_001876.4(CPT1A):c.1164-20G>A
|
|
|
NM_001876.4(CPT1A):c.1188G>A (p.Gln396=)
|
|
|
NM_001876.4(CPT1A):c.1202G>A (p.Arg401His)
|
|
|
NM_001876.4(CPT1A):c.1215G>A (p.Lys405=)
|
rs1445775305
|
|
NM_001876.4(CPT1A):c.1218G>A (p.Gln406=)
|
|
|
NM_001876.4(CPT1A):c.1227T>C (p.Asp409=)
|
rs1185206458
|
|
NM_001876.4(CPT1A):c.1239A>G (p.Lys413=)
|
rs1274403290
|
|
NM_001876.4(CPT1A):c.1257G>T (p.Thr419=)
|
|
|
NM_001876.4(CPT1A):c.1269T>C (p.Thr423=)
|
rs2153997923
|
|
NM_001876.4(CPT1A):c.1272A>G (p.Glu424=)
|
|
|
NM_001876.4(CPT1A):c.1284A>G (p.Arg428=)
|
rs2153997922
|
|
NM_001876.4(CPT1A):c.1296G>A (p.Pro432=)
|
rs756320661
|
|
NM_001876.4(CPT1A):c.1296G>C (p.Pro432=)
|
rs756320661
|
|
NM_001876.4(CPT1A):c.1323A>G (p.Lys441=)
|
rs2153997916
|
|
NM_001876.4(CPT1A):c.1329A>G (p.Leu443=)
|
rs2153997912
|
|
NM_001876.4(CPT1A):c.1350C>T (p.Asp450=)
|
rs2153997906
|
|
NM_001876.4(CPT1A):c.1352+13C>T
|
|
|
NM_001876.4(CPT1A):c.1352+14C>G
|
|
|
NM_001876.4(CPT1A):c.1353-13G>T
|
|
|
NM_001876.4(CPT1A):c.1353-15G>C
|
|
|
NM_001876.4(CPT1A):c.1353-15GT[2]
|
|
|
NM_001876.4(CPT1A):c.1353-16T>A
|
|
|
NM_001876.4(CPT1A):c.1353-20C>T
|
|
|
NM_001876.4(CPT1A):c.1353-4G>T
|
rs577271875
|
|
NM_001876.4(CPT1A):c.1353-8T>C
|
rs2153997788
|
|
NM_001876.4(CPT1A):c.1368G>C (p.Ser456=)
|
rs563338783
|
|
NM_001876.4(CPT1A):c.1380T>C (p.Val460=)
|
|
|
NM_001876.4(CPT1A):c.1383C>T (p.Val461=)
|
rs2153997781
|
|
NM_001876.4(CPT1A):c.1395G>A (p.Gly465=)
|
rs774577615
|
|
NM_001876.4(CPT1A):c.1395G>C (p.Gly465=)
|
rs774577615
|
|
NM_001876.4(CPT1A):c.1395G>T (p.Gly465=)
|
rs774577615
|
|
NM_001876.4(CPT1A):c.141+10G>A
|
|
|
NM_001876.4(CPT1A):c.141+13T>A
|
|
|
NM_001876.4(CPT1A):c.141+17T>A
|
|
|
NM_001876.4(CPT1A):c.142-12G>A
|
|
|
NM_001876.4(CPT1A):c.142-13T>C
|
|
|
NM_001876.4(CPT1A):c.142-13T>G
|
|
|
NM_001876.4(CPT1A):c.142-14G>A
|
|
|
NM_001876.4(CPT1A):c.142-14G>T
|
|
|
NM_001876.4(CPT1A):c.142-15G>C
|
|
|
NM_001876.4(CPT1A):c.142-17C>T
|
|
|
NM_001876.4(CPT1A):c.142-18C>T
|
|
|
NM_001876.4(CPT1A):c.142-20G>T
|
|
|
NM_001876.4(CPT1A):c.1422C>T (p.Ser474=)
|
|
|
NM_001876.4(CPT1A):c.1437G>C (p.Pro479=)
|
rs554525176
|
|
NM_001876.4(CPT1A):c.1437G>T (p.Pro479=)
|
|
|
NM_001876.4(CPT1A):c.1449C>T (p.His483=)
|
|
|
NM_001876.4(CPT1A):c.1458+17T>A
|
|
|
NM_001876.4(CPT1A):c.1458+17T>C
|
|
|
NM_001876.4(CPT1A):c.1458+19C>G
|
|
|
NM_001876.4(CPT1A):c.1458+8T>G
|
rs2153997771
|
|
NM_001876.4(CPT1A):c.1458+9T>C
|
|
|
NM_001876.4(CPT1A):c.1459-5G>T
|
|
|
NM_001876.4(CPT1A):c.1459-6dup
|
rs767372374
|
|
NM_001876.4(CPT1A):c.1488G>A (p.Leu496=)
|
rs2153997100
|
|
NM_001876.4(CPT1A):c.1494T>C (p.Tyr498=)
|
|
|
NM_001876.4(CPT1A):c.1497G>A (p.Ala499=)
|
|
|
NM_001876.4(CPT1A):c.1509C>T (p.His503=)
|
rs2153997092
|
|
NM_001876.4(CPT1A):c.1526A>G (p.Asn509Ser)
|
|
|
NM_001876.4(CPT1A):c.153C>T (p.Ile51=)
|
|
|
NM_001876.4(CPT1A):c.1542C>T (p.Tyr514=)
|
|
|
NM_001876.4(CPT1A):c.1548C>T (p.Thr516=)
|
|
|
NM_001876.4(CPT1A):c.1554G>T (p.Leu518=)
|
|
|
NM_001876.4(CPT1A):c.1566C>T (p.Ile522=)
|
|
|
NM_001876.4(CPT1A):c.1569G>C (p.Pro523=)
|
rs754717309
|
|
NM_001876.4(CPT1A):c.1575+10G>A
|
rs2153997077
|
|
NM_001876.4(CPT1A):c.1575+13T>A
|
|
|
NM_001876.4(CPT1A):c.1575+14A>G
|
|
|
NM_001876.4(CPT1A):c.1575+16C>A
|
|
|
NM_001876.4(CPT1A):c.1576-19T>C
|
|
|
NM_001876.4(CPT1A):c.1576-20T>G
|
|
|
NM_001876.4(CPT1A):c.1576-6C>T
|
|
|
NM_001876.4(CPT1A):c.1576-8C>G
|
|
|
NM_001876.4(CPT1A):c.1576-8C>T
|
|
|
NM_001876.4(CPT1A):c.1576-9TC[4]
|
|
|
NM_001876.4(CPT1A):c.1581A>G (p.Gln527=)
|
rs1158620106
|
|
NM_001876.4(CPT1A):c.1587T>A (p.Val529=)
|
|
|
NM_001876.4(CPT1A):c.1596C>G (p.Thr532=)
|
rs750402883
|
|
NM_001876.4(CPT1A):c.159C>A (p.Gly53=)
|
rs781443576
|
|
NM_001876.4(CPT1A):c.159C>T (p.Gly53=)
|
|
|
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu)
|
rs147389938
|
|
NM_001876.4(CPT1A):c.1614T>C (p.Asn538=)
|
rs2153996790
|
|
NM_001876.4(CPT1A):c.1620G>C (p.Leu540=)
|
rs2153996789
|
|
NM_001876.4(CPT1A):c.1632G>A (p.Val544=)
|
|
|
NM_001876.4(CPT1A):c.1638C>T (p.Phe546=)
|
rs148377571
|
|
NM_001876.4(CPT1A):c.1653C>T (p.Phe551=)
|
rs1314725177
|
|
NM_001876.4(CPT1A):c.1656A>G (p.Val552=)
|
rs1594326863
|
|
NM_001876.4(CPT1A):c.165C>T (p.Tyr55=)
|
|
|
NM_001876.4(CPT1A):c.1662T>C (p.Phe554=)
|
rs1855048075
|
|
NM_001876.4(CPT1A):c.1674C>A (p.Ile558=)
|
|
|
NM_001876.4(CPT1A):c.1677C>T (p.Ile559=)
|
rs2153996781
|
|
NM_001876.4(CPT1A):c.168G>A (p.Pro56=)
|
|
|
NM_001876.4(CPT1A):c.168G>C (p.Pro56=)
|
|
|
NM_001876.4(CPT1A):c.168G>T (p.Pro56=)
|
|
|
NM_001876.4(CPT1A):c.1695C>T (p.Ser565=)
|
|
|
NM_001876.4(CPT1A):c.1698A>G (p.Pro566=)
|
|
|
NM_001876.4(CPT1A):c.1701C>T (p.Asp567=)
|
|
|
NM_001876.4(CPT1A):c.1704C>T (p.Ala568=)
|
rs1855045353
|
|
NM_001876.4(CPT1A):c.1710G>A (p.Val570=)
|
|
|
NM_001876.4(CPT1A):c.1716G>A (p.Leu572=)
|
|
|
NM_001876.4(CPT1A):c.1728G>T (p.Leu576=)
|
rs751342542
|
|
NM_001876.4(CPT1A):c.1734C>T (p.His578=)
|
|
|
NM_001876.4(CPT1A):c.1740+10G>A
|
rs1342674051
|
|
NM_001876.4(CPT1A):c.1740+12C>T
|
|
|
NM_001876.4(CPT1A):c.1740+13C>T
|
|
|
NM_001876.4(CPT1A):c.1740+14G>A
|
|
|
NM_001876.4(CPT1A):c.1740+19G>A
|
|
|
NM_001876.4(CPT1A):c.1740+19G>T
|
|
|
NM_001876.4(CPT1A):c.1740+20G>A
|
|
|
NM_001876.4(CPT1A):c.1740+8C>A
|
|
|
NM_001876.4(CPT1A):c.1740+9T>C
|
|
|
NM_001876.4(CPT1A):c.1741-4C>T
|
rs1249777003
|
|
NM_001876.4(CPT1A):c.1741-8T>C
|
rs1479907760
|
|
NM_001876.4(CPT1A):c.1743C>T (p.Asp581=)
|
rs761235612
|
|
NM_001876.4(CPT1A):c.1755T>C (p.Phe585=)
|
|
|
NM_001876.4(CPT1A):c.1764A>G (p.Thr588=)
|
|
|
NM_001876.4(CPT1A):c.1782C>A (p.Thr594=)
|
|
|
NM_001876.4(CPT1A):c.1782C>G (p.Thr594=)
|
|
|
NM_001876.4(CPT1A):c.1782C>T (p.Thr594=)
|
rs2153995211
|
|
NM_001876.4(CPT1A):c.1785G>A (p.Arg595=)
|
|
|
NM_001876.4(CPT1A):c.1800G>A (p.Gly600=)
|
rs745966632
|
|
NM_001876.4(CPT1A):c.1815G>A (p.Val605=)
|
|
|
NM_001876.4(CPT1A):c.1818C>T (p.Arg606=)
|
rs1201271520
|
|
NM_001876.4(CPT1A):c.1827C>T (p.Thr609=)
|
|
|
NM_001876.4(CPT1A):c.1830T>G (p.Thr610=)
|
rs2153995199
|
|
NM_001876.4(CPT1A):c.1839C>T (p.Cys613=)
|
|
|
NM_001876.4(CPT1A):c.183T>C (p.Ser61=)
|
rs2154001166
|
|
NM_001876.4(CPT1A):c.1842C>T (p.Asp614=)
|
|
|
NM_001876.4(CPT1A):c.1854C>T (p.Ala618=)
|
rs1380885875
|
|
NM_001876.4(CPT1A):c.1869C>A (p.Ala623=)
|
rs2153995190
|
|
NM_001876.4(CPT1A):c.1869C>T (p.Ala623=)
|
rs2153995190
|
|
NM_001876.4(CPT1A):c.1875+10C>T
|
|
|
NM_001876.4(CPT1A):c.1875+11A>G
|
rs1854659204
|
|
NM_001876.4(CPT1A):c.1875+12T>C
|
|
|
NM_001876.4(CPT1A):c.1875+13C>G
|
|
|
NM_001876.4(CPT1A):c.1875+18T>G
|
|
|
NM_001876.4(CPT1A):c.1875+19G>C
|
|
|
NM_001876.4(CPT1A):c.1875+9C>T
|
|
|
NM_001876.4(CPT1A):c.1876-10T>G
|
|
|
NM_001876.4(CPT1A):c.1876-17C>T
|
|
|
NM_001876.4(CPT1A):c.1876-19C>A
|
|
|
NM_001876.4(CPT1A):c.1876-6A>T
|
|
|
NM_001876.4(CPT1A):c.1876-9del
|
|
|
NM_001876.4(CPT1A):c.1881A>G (p.Glu627=)
|
|
|
NM_001876.4(CPT1A):c.1890G>A (p.Leu630=)
|
rs1854622746
|
|
NM_001876.4(CPT1A):c.18A>G (p.Gln6=)
|
rs2154001368
|
|
NM_001876.4(CPT1A):c.1902G>A (p.Lys634=)
|
rs1854622367
|
|
NM_001876.4(CPT1A):c.1911T>C (p.Ser637=)
|
|
|
NM_001876.4(CPT1A):c.1923G>A (p.Gln641=)
|
rs1189618879
|
|
NM_001876.4(CPT1A):c.1938C>A (p.Leu646=)
|
|
|
NM_001876.4(CPT1A):c.1938C>T (p.Leu646=)
|
|
|
NM_001876.4(CPT1A):c.1941C>T (p.Ala647=)
|
|
|
NM_001876.4(CPT1A):c.1947C>G (p.Thr649=)
|
rs766536084
|
|
NM_001876.4(CPT1A):c.1958T>C (p.Ile653Thr)
|
|
|
NM_001876.4(CPT1A):c.1968C>T (p.His656=)
|
|
|
NM_001876.4(CPT1A):c.198G>T (p.Val66=)
|
|
|
NM_001876.4(CPT1A):c.2010G>A (p.Glu670=)
|
rs2153994986
|
|
NM_001876.4(CPT1A):c.2013C>A (p.Ser671=)
|
rs755323437
|
|
NM_001876.4(CPT1A):c.2025G>A (p.Lys675=)
|
|
|
NM_001876.4(CPT1A):c.2028+11T>A
|
|
|
NM_001876.4(CPT1A):c.2028+19T>C
|
|
|
NM_001876.4(CPT1A):c.2028+19_2028+21del
|
|
|
NM_001876.4(CPT1A):c.2028+9C>A
|
|
|
NM_001876.4(CPT1A):c.2028+9C>T
|
rs1300825876
|
|
NM_001876.4(CPT1A):c.2029-10C>T
|
rs2153994803
|
|
NM_001876.4(CPT1A):c.2029-11del
|
|
|
NM_001876.4(CPT1A):c.2029-14G>A
|
|
|
NM_001876.4(CPT1A):c.2029-14G>T
|
|
|
NM_001876.4(CPT1A):c.2029-16C>T
|
|
|
NM_001876.4(CPT1A):c.2029-7T>C
|
|
|
NM_001876.4(CPT1A):c.2029-8C>T
|
|
|
NM_001876.4(CPT1A):c.2031T>A (p.Val677=)
|
rs2153994801
|
|
NM_001876.4(CPT1A):c.2037T>C (p.Ser679=)
|
rs1428078221
|
|
NM_001876.4(CPT1A):c.2049A>G (p.Arg683=)
|
|
|
NM_001876.4(CPT1A):c.2061C>T (p.Ser687=)
|
|
|
NM_001876.4(CPT1A):c.2067C>G (p.Thr689=)
|
rs751692323
|
|
NM_001876.4(CPT1A):c.2076G>A (p.Gln692=)
|
|
|
NM_001876.4(CPT1A):c.2082G>A (p.Val694=)
|
rs2153994793
|
|
NM_001876.4(CPT1A):c.2088G>A (p.Leu696=)
|
rs1594315314
|
|
NM_001876.4(CPT1A):c.2088G>C (p.Leu696=)
|
rs1594315314
|
|
NM_001876.4(CPT1A):c.2103T>C (p.Asn701=)
|
rs1263609871
|
|
NM_001876.4(CPT1A):c.2124C>T (p.Ser708=)
|
rs773748237
|
|
NM_001876.4(CPT1A):c.2130G>A (p.Gly710=)
|
|
|
NM_001876.4(CPT1A):c.213A>G (p.Thr71=)
|
|
|
NM_001876.4(CPT1A):c.2142+12G>A
|
|
|
NM_001876.4(CPT1A):c.2142+19G>A
|
|
|
NM_001876.4(CPT1A):c.2142+8C>A
|
rs147563740
|
|
NM_001876.4(CPT1A):c.2143-12C>G
|
|
|
NM_001876.4(CPT1A):c.2143-4C>T
|
|
|
NM_001876.4(CPT1A):c.2143-6C>T
|
rs931099159
|
|
NM_001876.4(CPT1A):c.2148T>C (p.Ala716=)
|
rs1946764266
|
|
NM_001876.4(CPT1A):c.2157C>G (p.Gly719=)
|
|
|
NM_001876.4(CPT1A):c.2166G>A (p.Val722=)
|
rs2153994718
|
|
NM_001876.4(CPT1A):c.216G>T (p.Thr72=)
|
|
|
NM_001876.4(CPT1A):c.2172C>T (p.Tyr724=)
|
rs2153994715
|
|
NM_001876.4(CPT1A):c.2184A>C (p.Gly728=)
|
|
|
NM_001876.4(CPT1A):c.2184A>G (p.Gly728=)
|
|
|
NM_001876.4(CPT1A):c.2190C>T (p.Asn730=)
|
|
|
NM_001876.4(CPT1A):c.2193C>A (p.Leu731=)
|
|
|
NM_001876.4(CPT1A):c.2205C>T (p.His735=)
|
rs2153994709
|
|
NM_001876.4(CPT1A):c.2223T>C (p.Ser741=)
|
rs947049863
|
|
NM_001876.4(CPT1A):c.2235+14G>A
|
|
|
NM_001876.4(CPT1A):c.2235+14G>T
|
|
|
NM_001876.4(CPT1A):c.2235+15A>C
|
|
|
NM_001876.4(CPT1A):c.2235+16A>G
|
|
|
NM_001876.4(CPT1A):c.2235+20C>A
|
|
|
NM_001876.4(CPT1A):c.2235+8T>C
|
|
|
NM_001876.4(CPT1A):c.2235+9G>A
|
rs1946761066
|
|
NM_001876.4(CPT1A):c.2236-10T>C
|
|
|
NM_001876.4(CPT1A):c.2236-14T>C
|
|
|
NM_001876.4(CPT1A):c.2236-14T>G
|
rs781040808
|
|
NM_001876.4(CPT1A):c.2236-16T>C
|
|
|
NM_001876.4(CPT1A):c.2236-16_2236-10dup
|
|
|
NM_001876.4(CPT1A):c.2236-7A>C
|
|
|
NM_001876.4(CPT1A):c.2236-7A>G
|
rs770912592
|
|
NM_001876.4(CPT1A):c.2271A>C (p.Ala757=)
|
rs2153994511
|
|
NM_001876.4(CPT1A):c.2280C>T (p.Asp760=)
|
rs2153994510
|
|
NM_001876.4(CPT1A):c.228G>A (p.Lys76=)
|
rs2154001163
|
|
NM_001876.4(CPT1A):c.2292G>A (p.Leu764=)
|
|
|
NM_001876.4(CPT1A):c.2298T>G (p.Gly766=)
|
|
|
NM_001876.4(CPT1A):c.2313C>T (p.Ser771=)
|
rs2153994502
|
|
NM_001876.4(CPT1A):c.2322A>G (p.Ter774=)
|
rs1170837033
|
|
NM_001876.4(CPT1A):c.240G>C (p.Ser80=)
|
|
|
NM_001876.4(CPT1A):c.243A>G (p.Leu81=)
|
rs2154001161
|
|
NM_001876.4(CPT1A):c.261C>T (p.Ile87=)
|
rs2154001159
|
|
NM_001876.4(CPT1A):c.279G>A (p.Thr93=)
|
|
|
NM_001876.4(CPT1A):c.279G>T (p.Thr93=)
|
rs375467139
|
|
NM_001876.4(CPT1A):c.281+13G>A
|
|
|
NM_001876.4(CPT1A):c.281+7A>T
|
|
|
NM_001876.4(CPT1A):c.281+8A>C
|
|
|
NM_001876.4(CPT1A):c.282-10G>A
|
rs1376516631
|
|
NM_001876.4(CPT1A):c.282-10G>C
|
rs1376516631
|
|
NM_001876.4(CPT1A):c.282-14G>T
|
|
|
NM_001876.4(CPT1A):c.282-6C>T
|
|
|
NM_001876.4(CPT1A):c.285C>T (p.Asn95=)
|
|
|
NM_001876.4(CPT1A):c.288C>T (p.Cys96=)
|
|
|
NM_001876.4(CPT1A):c.294C>T (p.Ser98=)
|
|
|
NM_001876.4(CPT1A):c.303G>C (p.Thr101=)
|
rs553777167
|
|
NM_001876.4(CPT1A):c.309C>T (p.Asn103=)
|
rs200536266
|
|
NM_001876.4(CPT1A):c.312G>C (p.Val104=)
|
rs2154000830
|
|
NM_001876.4(CPT1A):c.315C>T (p.Val105=)
|
rs2154000829
|
|
NM_001876.4(CPT1A):c.321C>A (p.Gly107=)
|
|
|
NM_001876.4(CPT1A):c.339C>A (p.Gly113=)
|
rs2154000828
|
|
NM_001876.4(CPT1A):c.340C>T (p.Leu114=)
|
rs1407504305
|
|
NM_001876.4(CPT1A):c.358G>A (p.Val120Ile)
|
|
|
NM_001876.4(CPT1A):c.360C>T (p.Val120=)
|
|
|
NM_001876.4(CPT1A):c.36C>T (p.Phe12=)
|
rs2154001367
|
|
NM_001876.4(CPT1A):c.370T>C (p.Tyr124His)
|
|
|
NM_001876.4(CPT1A):c.375C>A (p.Ser125=)
|
|
|
NM_001876.4(CPT1A):c.384G>A (p.Val128=)
|
rs2154000820
|
|
NM_001876.4(CPT1A):c.387G>A (p.Leu129=)
|
|
|
NM_001876.4(CPT1A):c.390C>A (p.Leu130=)
|
rs188016546
|
|
NM_001876.4(CPT1A):c.39G>A (p.Thr13=)
|
|
|
NM_001876.4(CPT1A):c.417G>C (p.Glu139Asp)
|
|
|
NM_001876.4(CPT1A):c.441C>T (p.Thr147=)
|
|
|
NM_001876.4(CPT1A):c.444G>A (p.Lys148=)
|
|
|
NM_001876.4(CPT1A):c.453+18T>C
|
|
|
NM_001876.4(CPT1A):c.453+7G>A
|
|
|
NM_001876.4(CPT1A):c.453+9G>C
|
rs183694834
|
|
NM_001876.4(CPT1A):c.454-10C>G
|
rs748910520
|
|
NM_001876.4(CPT1A):c.454-10C>T
|
rs748910520
|
|
NM_001876.4(CPT1A):c.454-12C>T
|
|
|
NM_001876.4(CPT1A):c.454-12CT[3]
|
|
|
NM_001876.4(CPT1A):c.454-14T>C
|
|
|
NM_001876.4(CPT1A):c.454-16A>C
|
|
|
NM_001876.4(CPT1A):c.454-5T>C
|
|
|
NM_001876.4(CPT1A):c.454-6C>A
|
rs769462031
|
|
NM_001876.4(CPT1A):c.454-6C>T
|
rs769462031
|
|
NM_001876.4(CPT1A):c.48G>A (p.Pro16=)
|
|
|
NM_001876.4(CPT1A):c.48G>C (p.Pro16=)
|
rs756237180
|
|
NM_001876.4(CPT1A):c.507A>C (p.Thr169=)
|
rs547886138
|
|
NM_001876.4(CPT1A):c.507A>G (p.Thr169=)
|
rs547886138
|
|
NM_001876.4(CPT1A):c.528C>A (p.Val176=)
|
rs917723842
|
|
NM_001876.4(CPT1A):c.528C>G (p.Val176=)
|
|
|
NM_001876.4(CPT1A):c.531G>A (p.Pro177=)
|
|
|
NM_001876.4(CPT1A):c.531G>T (p.Pro177=)
|
|
|
NM_001876.4(CPT1A):c.534T>C (p.Ala178=)
|
rs2154000549
|
|
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile)
|
rs542856213
|
|
NM_001876.4(CPT1A):c.553A>C (p.Arg185=)
|
|
|
NM_001876.4(CPT1A):c.555+9G>A
|
rs2154000543
|
|
NM_001876.4(CPT1A):c.556-18T>C
|
|
|
NM_001876.4(CPT1A):c.556-4C>T
|
rs2154000205
|
|
NM_001876.4(CPT1A):c.556-5C>G
|
|
|
NM_001876.4(CPT1A):c.559C>T (p.Leu187=)
|
|
|
NM_001876.4(CPT1A):c.567G>A (p.Ser189=)
|
rs1366738895
|
|
NM_001876.4(CPT1A):c.567G>C (p.Ser189=)
|
|
|
NM_001876.4(CPT1A):c.570G>A (p.Val190=)
|
|
|
NM_001876.4(CPT1A):c.573G>A (p.Arg191=)
|
|
|
NM_001876.4(CPT1A):c.597C>T (p.Phe199=)
|
rs772640633
|
|
NM_001876.4(CPT1A):c.603G>A (p.Arg201=)
|
rs2228504
|
|
NM_001876.4(CPT1A):c.603G>T (p.Arg201=)
|
|
|
NM_001876.4(CPT1A):c.61C>T (p.Leu21=)
|
rs1856357025
|
|
NM_001876.4(CPT1A):c.65G>A (p.Arg22Gln)
|
|
|
NM_001876.4(CPT1A):c.661T>C (p.Leu221=)
|
|
|
NM_001876.4(CPT1A):c.687A>G (p.Thr229=)
|
|
|
NM_001876.4(CPT1A):c.693+10T>C
|
|
|
NM_001876.4(CPT1A):c.693+11A>G
|
|
|
NM_001876.4(CPT1A):c.693+14C>T
|
|
|
NM_001876.4(CPT1A):c.693+15A>G
|
|
|
NM_001876.4(CPT1A):c.693+16C>T
|
|
|
NM_001876.4(CPT1A):c.693+9G>A
|
|
|
NM_001876.4(CPT1A):c.693+9G>T
|
|
|
NM_001876.4(CPT1A):c.694-15G>A
|
|
|
NM_001876.4(CPT1A):c.694-17G>A
|
|
|
NM_001876.4(CPT1A):c.694-20C>G
|
|
|
NM_001876.4(CPT1A):c.694-4C>A
|
|
|
NM_001876.4(CPT1A):c.694-6C>T
|
|
|
NM_001876.4(CPT1A):c.723C>T (p.Tyr241=)
|
|
|
NM_001876.4(CPT1A):c.727C>A (p.Arg243=)
|
rs779893091
|
|
NM_001876.4(CPT1A):c.732A>T (p.Gly244=)
|
|
|
NM_001876.4(CPT1A):c.750G>A (p.Val250=)
|
|
|
NM_001876.4(CPT1A):c.756C>T (p.Ser252=)
|
rs1855767126
|
|
NM_001876.4(CPT1A):c.759C>T (p.Asn253=)
|
|
|
NM_001876.4(CPT1A):c.75T>C (p.His25=)
|
rs2154001365
|
|
NM_001876.4(CPT1A):c.768C>A (p.Ala256=)
|
|
|
NM_001876.4(CPT1A):c.771+10C>T
|
|
|
NM_001876.4(CPT1A):c.771+12C>T
|
|
|
NM_001876.4(CPT1A):c.771+12del
|
|
|
NM_001876.4(CPT1A):c.771+13G>A
|
rs996371611
|
|
NM_001876.4(CPT1A):c.771+15C>T
|
|
|
NM_001876.4(CPT1A):c.771+17G>A
|
|
|
NM_001876.4(CPT1A):c.771+17G>C
|
rs201034164
|
|
NM_001876.4(CPT1A):c.771+20C>A
|
|
|
NM_001876.4(CPT1A):c.771+20C>T
|
|
|
NM_001876.4(CPT1A):c.771+8C>T
|
|
|
NM_001876.4(CPT1A):c.771+9A>C
|
|
|
NM_001876.4(CPT1A):c.772-12G>C
|
|
|
NM_001876.4(CPT1A):c.772-20C>A
|
|
|
NM_001876.4(CPT1A):c.772-7T>C
|
|
|
NM_001876.4(CPT1A):c.772-8C>G
|
|
|
NM_001876.4(CPT1A):c.772-9G>T
|
rs936271013
|
|
NM_001876.4(CPT1A):c.775C>T (p.Leu259=)
|
rs1331246262
|
|
NM_001876.4(CPT1A):c.792A>G (p.Pro264=)
|
|
|
NM_001876.4(CPT1A):c.795T>C (p.Thr265=)
|
rs2153999816
|
|
NM_001876.4(CPT1A):c.798C>T (p.His266=)
|
|
|
NM_001876.4(CPT1A):c.804G>A (p.Gln268=)
|
|
|
NM_001876.4(CPT1A):c.873C>T (p.Ile291=)
|
rs2153999800
|
|
NM_001876.4(CPT1A):c.879+10C>T
|
rs2153999798
|
|
NM_001876.4(CPT1A):c.879+17C>T
|
|
|
NM_001876.4(CPT1A):c.880-15A>G
|
|
|
NM_001876.4(CPT1A):c.880-16T>C
|
|
|
NM_001876.4(CPT1A):c.880-17A>G
|
|
|
NM_001876.4(CPT1A):c.880-19A>C
|
|
|
NM_001876.4(CPT1A):c.900G>A (p.Thr300=)
|
rs1273814063
|
|
NM_001876.4(CPT1A):c.915C>A (p.Ser305=)
|
|
|
NM_001876.4(CPT1A):c.921G>A (p.Gln307=)
|
|
|
NM_001876.4(CPT1A):c.957A>G (p.Gly319=)
|
rs748754977
|
|
NM_001876.4(CPT1A):c.967+10G>A
|
rs764374582
|
|
NM_001876.4(CPT1A):c.967+10G>C
|
rs764374582
|
|
NM_001876.4(CPT1A):c.967+13T>C
|
|
|
NM_001876.4(CPT1A):c.967+20G>A
|
|
|
NM_001876.4(CPT1A):c.967+9A>G
|
rs757693731
|
|
NM_001876.4(CPT1A):c.968-11G>T
|
|
|
NM_001876.4(CPT1A):c.968-18A>G
|
|
|
NM_001876.4(CPT1A):c.968-5C>T
|
rs1855420167
|
|
NM_001876.4(CPT1A):c.968-9C>T
|
|
|
NM_001876.4(CPT1A):c.969C>T (p.Asp323=)
|
|
|
NM_001876.4(CPT1A):c.972C>A (p.Thr324=)
|
|
|
NM_001876.4(CPT1A):c.975C>A (p.Ile325=)
|
|
|
NM_001876.4(CPT1A):c.981C>T (p.His327=)
|
rs2153998421
|
|
NM_001876.4(CPT1A):c.99C>T (p.Leu33=)
|
|
|
NM_001918.5(DBT):c.1014T>C (p.Tyr338=)
|
|
|
NM_001918.5(DBT):c.1017+10G>A
|
|
|
NM_001918.5(DBT):c.1017+11C>G
|
|
|
NM_001918.5(DBT):c.1017+15G>A
|
|
|
NM_001918.5(DBT):c.1017+16T>A
|
|
|
NM_001918.5(DBT):c.1018-15T>C
|
|
|
NM_001918.5(DBT):c.1018-16A>T
|
|
|
NM_001918.5(DBT):c.1018-17A>G
|
|
|
NM_001918.5(DBT):c.1018-4T>C
|
|
|
NM_001918.5(DBT):c.1018-7T>G
|
rs2100780347
|
|
NM_001918.5(DBT):c.1018-9A>G
|
rs2100780356
|
|
NM_001918.5(DBT):c.1018-9del
|
rs2100780359
|
|
NM_001918.5(DBT):c.1032T>C (p.Ile344=)
|
|
|
NM_001918.5(DBT):c.1056G>A (p.Gln352=)
|
rs2100780252
|
|
NM_001918.5(DBT):c.1065T>A (p.Ile355=)
|
|
|
NM_001918.5(DBT):c.1068C>T (p.Val356=)
|
|
|
NM_001918.5(DBT):c.1077G>A (p.Val359=)
|
|
|
NM_001918.5(DBT):c.1089G>A (p.Gln363=)
|
rs2100780197
|
|
NM_001918.5(DBT):c.1098T>G (p.Ser366=)
|
rs1422504862
|
|
NM_001918.5(DBT):c.1107C>T (p.Asp369=)
|
rs2100780132
|
|
NM_001918.5(DBT):c.1116T>C (p.Thr372=)
|
|
|
NM_001918.5(DBT):c.1131C>T (p.Leu377=)
|
rs1661802261
|
|
NM_001918.5(DBT):c.1140G>A (p.Leu380=)
|
rs2100780071
|
|
NM_001918.5(DBT):c.1152T>C (p.Ser384=)
|
rs2100780004
|
|
NM_001918.5(DBT):c.1158C>G (p.Leu386=)
|
rs139943180
|
|
NM_001918.5(DBT):c.1173T>C (p.Leu391=)
|
|
|
NM_001918.5(DBT):c.1185A>T (p.Thr395=)
|
|
|
NM_001918.5(DBT):c.1191T>A (p.Thr397=)
|
rs2100779891
|
|
NM_001918.5(DBT):c.1191T>C (p.Thr397=)
|
rs2100779891
|
|
NM_001918.5(DBT):c.1200C>T (p.Asn400=)
|
|
|
NM_001918.5(DBT):c.1209+9T>C
|
|
|
NM_001918.5(DBT):c.1209+9_1209+10dup
|
|
|
NM_001918.5(DBT):c.120T>C (p.Phe40=)
|
|
|
NM_001918.5(DBT):c.1210-12T>A
|
|
|
NM_001918.5(DBT):c.1210-12T>G
|
|
|
NM_001918.5(DBT):c.1210-8_1210-7insT
|
|
|
NM_001918.5(DBT):c.1210-9_1210-8insTT
|
|
|
NM_001918.5(DBT):c.1210-9_1210-8inv
|
|
|
NM_001918.5(DBT):c.1212T>C (p.Ile404=)
|
|
|
NM_001918.5(DBT):c.1215T>C (p.Gly405=)
|
|
|
NM_001918.5(DBT):c.1221C>T (p.Thr407=)
|
|
|
NM_001918.5(DBT):c.1227C>T (p.Ala409=)
|
|
|
NM_001918.5(DBT):c.123T>C (p.Gly41=)
|
rs2100844658
|
|
NM_001918.5(DBT):c.1245A>G (p.Pro415=)
|
|
|
NM_001918.5(DBT):c.1248T>C (p.Pro416=)
|
rs2100779369
|
|
NM_001918.5(DBT):c.1260T>C (p.Ile420=)
|
|
|
NM_001918.5(DBT):c.1275A>G (p.Ser425=)
|
rs1570806049
|
|
NM_001918.5(DBT):c.1281+10T>C
|
rs2100779244
|
|
NM_001918.5(DBT):c.1281+13G>A
|
|
|
NM_001918.5(DBT):c.1281+18C>T
|
|
|
NM_001918.5(DBT):c.1281+8_1281+20del
|
|
|
NM_001918.5(DBT):c.1281+9A>G
|
|
|
NM_001918.5(DBT):c.1282-10_1282-9dup
|
|
|
NM_001918.5(DBT):c.1282-11_1282-9del
|
|
|
NM_001918.5(DBT):c.1282-12_1282-9del
|
rs1557939390
|
|
NM_001918.5(DBT):c.1282-13T>A
|
rs1374973220
|
|
NM_001918.5(DBT):c.1282-13T>C
|
|
|
NM_001918.5(DBT):c.1282-14T>A
|
rs1315625069
|
|
NM_001918.5(DBT):c.1282-15T>A
|
rs763988935
|
|
NM_001918.5(DBT):c.1282-15_1282-9del
|
rs1557939402
|
|
NM_001918.5(DBT):c.1282-16T>A
|
|
|
NM_001918.5(DBT):c.1282-16T>C
|
|
|
NM_001918.5(DBT):c.1282-16_1282-9del
|
|
|
NM_001918.5(DBT):c.1282-18T>C
|
|
|
NM_001918.5(DBT):c.1282-19T>C
|
|
|
NM_001918.5(DBT):c.1282-20T>C
|
|
|
NM_001918.5(DBT):c.1282-20_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-21_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-21_1282-10dup
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-22_1282-10del
|
|
|
NM_001918.5(DBT):c.1282-23_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-24_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-25_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-26_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-4C>A
|
rs1410431336
|
|
NM_001918.5(DBT):c.1282-4C>T
|
rs1410431336
|
|
NM_001918.5(DBT):c.1282-7T>C
|
|
|
NM_001918.5(DBT):c.1282-8A>G
|
rs764781766
|
|
NM_001918.5(DBT):c.1282-9C>A
|
rs1404199687
|
|
NM_001918.5(DBT):c.1282-9dup
|
|
|
NM_001918.5(DBT):c.129T>G (p.Pro43=)
|
|
|
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)
|
rs772490888
|
|
NM_001918.5(DBT):c.1314A>G (p.Val438=)
|
|
|
NM_001918.5(DBT):c.1317T>C (p.Tyr439=)
|
rs2100761130
|
|
NM_001918.5(DBT):c.1347A>G (p.Ser449=)
|
|
|
NM_001918.5(DBT):c.1383A>C (p.Ser461=)
|
rs2100760925
|
|
NM_001918.5(DBT):c.1389C>T (p.Phe463=)
|
rs886044964
|
|
NM_001918.5(DBT):c.138G>A (p.Lys46=)
|
|
|
NM_001918.5(DBT):c.1398G>A (p.Leu466=)
|
rs1661085210
|
|
NM_001918.5(DBT):c.1407C>G (p.Ser469=)
|
rs2100760846
|
|
NM_001918.5(DBT):c.1410T>C (p.Tyr470=)
|
rs2100760833
|
|
NM_001918.5(DBT):c.1419C>T (p.Asn473=)
|
|
|
NM_001918.5(DBT):c.1441C>T (p.Leu481=)
|
|
|
NM_001918.5(DBT):c.159C>T (p.Phe53=)
|
rs772209054
|
|
NM_001918.5(DBT):c.175+10A>G
|
|
|
NM_001918.5(DBT):c.175+16A>G
|
|
|
NM_001918.5(DBT):c.175+7A>T
|
|
|
NM_001918.5(DBT):c.176-15C>G
|
|
|
NM_001918.5(DBT):c.176-15C>T
|
|
|
NM_001918.5(DBT):c.207C>G (p.Leu69=)
|
|
|
NM_001918.5(DBT):c.207C>T (p.Leu69=)
|
|
|
NM_001918.5(DBT):c.225G>A (p.Gly75=)
|
rs2100834832
|
|
NM_001918.5(DBT):c.228T>C (p.Ile76=)
|
|
|
NM_001918.5(DBT):c.243T>G (p.Val81=)
|
|
|
NM_001918.5(DBT):c.246A>G (p.Lys82=)
|
|
|
NM_001918.5(DBT):c.251+15A>G
|
|
|
NM_001918.5(DBT):c.251+17A>G
|
|
|
NM_001918.5(DBT):c.251+18A>G
|
|
|
NM_001918.5(DBT):c.251+8A>T
|
|
|
NM_001918.5(DBT):c.251+9A>G
|
|
|
NM_001918.5(DBT):c.252-12T>G
|
|
|
NM_001918.5(DBT):c.252-8T>C
|
rs2100827755
|
|
NM_001918.5(DBT):c.258A>G (p.Val86=)
|
|
|
NM_001918.5(DBT):c.264A>G (p.Glu88=)
|
rs1557956728
|
|
NM_001918.5(DBT):c.273A>C (p.Thr91=)
|
rs2100827682
|
|
NM_001918.5(DBT):c.273A>G (p.Thr91=)
|
|
|
NM_001918.5(DBT):c.282G>A (p.Gln94=)
|
rs2100827660
|
|
NM_001918.5(DBT):c.288T>C (p.Asp96=)
|
|
|
NM_001918.5(DBT):c.300A>G (p.Glu100=)
|
rs772023545
|
|
NM_001918.5(DBT):c.321T>A (p.Ser107=)
|
|
|
NM_001918.5(DBT):c.333T>C (p.Thr111=)
|
|
|
NM_001918.5(DBT):c.336T>C (p.Ser112=)
|
rs1254104594
|
|
NM_001918.5(DBT):c.342T>C (p.Tyr114=)
|
rs1207748719
|
|
NM_001918.5(DBT):c.351C>T (p.Val117=)
|
rs767953425
|
|
NM_001918.5(DBT):c.366T>C (p.Tyr122=)
|
|
|
NM_001918.5(DBT):c.369T>C (p.Tyr123=)
|
rs2100827345
|
|
NM_001918.5(DBT):c.36G>A (p.Arg12=)
|
rs147775797
|
|
NM_001918.5(DBT):c.384T>C (p.Ile128=)
|
rs918466852
|
|
NM_001918.5(DBT):c.39T>C (p.Asn13=)
|
rs1431500513
|
|
NM_001918.5(DBT):c.408A>G (p.Val136=)
|
rs528365976
|
|
NM_001918.5(DBT):c.427T>C (p.Leu143=)
|
rs2100827179
|
|
NM_001918.5(DBT):c.42G>C (p.Ala14=)
|
|
|
NM_001918.5(DBT):c.42G>T (p.Ala14=)
|
rs758610837
|
|
NM_001918.5(DBT):c.433+10G>A
|
rs1024314250
|
|
NM_001918.5(DBT):c.433+10G>C
|
rs1024314250
|
|
NM_001918.5(DBT):c.433+13T>G
|
|
|
NM_001918.5(DBT):c.433+17A>C
|
|
|
NM_001918.5(DBT):c.433+7dup
|
rs2100827150
|
|
NM_001918.5(DBT):c.434-11C>T
|
|
|
NM_001918.5(DBT):c.434-14T>C
|
|
|
NM_001918.5(DBT):c.434-17T>G
|
|
|
NM_001918.5(DBT):c.434-4C>T
|
|
|
NM_001918.5(DBT):c.465A>C (p.Ala155=)
|
|
|
NM_001918.5(DBT):c.474T>C (p.His158=)
|
rs2100804457
|
|
NM_001918.5(DBT):c.480A>G (p.Glu160=)
|
|
|
NM_001918.5(DBT):c.483T>C (p.His161=)
|
rs2100804431
|
|
NM_001918.5(DBT):c.501G>A (p.Lys167=)
|
|
|
NM_001918.5(DBT):c.51+11T>C
|
|
|
NM_001918.5(DBT):c.51+13_51+14insT
|
|
|
NM_001918.5(DBT):c.51+14G>C
|
|
|
NM_001918.5(DBT):c.51+18G>C
|
|
|
NM_001918.5(DBT):c.51+18G>T
|
|
|
NM_001918.5(DBT):c.51+7A>G
|
|
|
NM_001918.5(DBT):c.510A>G (p.Lys170=)
|
rs1570820389
|
|
NM_001918.5(DBT):c.514C>T (p.Leu172=)
|
rs1344704881
|
|
NM_001918.5(DBT):c.52-10T>G
|
|
|
NM_001918.5(DBT):c.52-18T>G
|
rs1052822218
|
|
NM_001918.5(DBT):c.52-4G>A
|
rs2100844854
|
|
NM_001918.5(DBT):c.52-5T>C
|
|
|
NM_001918.5(DBT):c.52-6del
|
rs2100844868
|
|
NM_001918.5(DBT):c.52-9C>T
|
|
|
NM_001918.5(DBT):c.528A>G (p.Ala176=)
|
|
|
NM_001918.5(DBT):c.537T>C (p.Arg179=)
|
|
|
NM_001918.5(DBT):c.549A>G (p.Glu183=)
|
rs2100804264
|
|
NM_001918.5(DBT):c.54T>C (p.Ile18=)
|
rs1171616529
|
|
NM_001918.5(DBT):c.555+8C>A
|
rs548611008
|
|
NM_001918.5(DBT):c.555+8C>T
|
|
|
NM_001918.5(DBT):c.556-12A>G
|
|
|
NM_001918.5(DBT):c.556-14A>G
|
|
|
NM_001918.5(DBT):c.556-5T>C
|
|
|
NM_001918.5(DBT):c.576T>C (p.Val192=)
|
|
|
NM_001918.5(DBT):c.579C>T (p.Gly193=)
|
|
|
NM_001918.5(DBT):c.630A>G (p.Glu210=)
|
|
|
NM_001918.5(DBT):c.63C>G (p.Arg21=)
|
|
|
NM_001918.5(DBT):c.642A>C (p.Gly214=)
|
|
|
NM_001918.5(DBT):c.645T>G (p.Ala215=)
|
|
|
NM_001918.5(DBT):c.663C>T (p.Pro221=)
|
rs1662468729
|
|
NM_001918.5(DBT):c.666A>G (p.Lys222=)
|
|
|
NM_001918.5(DBT):c.696A>G (p.Pro232=)
|
rs2100799691
|
|
NM_001918.5(DBT):c.6T>A (p.Ala2=)
|
rs1240475402
|
|
NM_001918.5(DBT):c.6T>G (p.Ala2=)
|
rs1240475402
|
|
NM_001918.5(DBT):c.702C>T (p.Asp234=)
|
|
|
NM_001918.5(DBT):c.714T>C (p.Pro238=)
|
|
|
NM_001918.5(DBT):c.735G>A (p.Pro245=)
|
|
|
NM_001918.5(DBT):c.741C>T (p.Phe247=)
|
|
|
NM_001918.5(DBT):c.744A>C (p.Thr248=)
|
rs765082016
|
|
NM_001918.5(DBT):c.747C>G (p.Gly249=)
|
rs200612682
|
|
NM_001918.5(DBT):c.75A>T (p.Thr25=)
|
|
|
NM_001918.5(DBT):c.772+11T>C
|
|
|
NM_001918.5(DBT):c.772+17C>G
|
|
|
NM_001918.5(DBT):c.772+17_772+19del
|
|
|
NM_001918.5(DBT):c.772+19A>G
|
|
|
NM_001918.5(DBT):c.772+7A>G
|
|
|
NM_001918.5(DBT):c.772+8T>C
|
|
|
NM_001918.5(DBT):c.772+8TAA[2]
|
|
|
NM_001918.5(DBT):c.772+9A>G
|
rs2100799392
|
|
NM_001918.5(DBT):c.773-14T>G
|
|
|
NM_001918.5(DBT):c.773-4T>C
|
|
|
NM_001918.5(DBT):c.792C>G (p.Val264=)
|
rs2100797477
|
|
NM_001918.5(DBT):c.799A>T (p.Met267Leu)
|
|
|
NM_001918.5(DBT):c.804T>A (p.Ser268=)
|
rs1283378890
|
|
NM_001918.5(DBT):c.804T>C (p.Ser268=)
|
rs1283378890
|
|
NM_001918.5(DBT):c.813G>A (p.Leu271=)
|
|
|
NM_001918.5(DBT):c.831T>C (p.Gly277=)
|
rs2100797397
|
|
NM_001918.5(DBT):c.834T>C (p.Tyr278=)
|
rs2100797369
|
|
NM_001918.5(DBT):c.849C>T (p.Asp283=)
|
|
|
NM_001918.5(DBT):c.84T>C (p.Asn28=)
|
|
|
NM_001918.5(DBT):c.855T>C (p.Thr285=)
|
|
|
NM_001918.5(DBT):c.861G>A (p.Leu287=)
|
|
|
NM_001918.5(DBT):c.870C>T (p.Leu290=)
|
|
|
NM_001918.5(DBT):c.876A>G (p.Glu292=)
|
|
|
NM_001918.5(DBT):c.87T>A (p.Val29=)
|
rs2100844766
|
|
NM_001918.5(DBT):c.891T>C (p.Ile297=)
|
rs1184322880
|
|
NM_001918.5(DBT):c.894A>C (p.Ala298=)
|
|
|
NM_001918.5(DBT):c.897T>C (p.Phe299=)
|
rs2100797177
|
|
NM_001918.5(DBT):c.903T>C (p.Arg301=)
|
|
|
NM_001918.5(DBT):c.915C>T (p.Leu305=)
|
rs2100797139
|
|
NM_001918.5(DBT):c.933C>T (p.Phe311=)
|
rs2100797103
|
|
NM_001918.5(DBT):c.936A>G (p.Leu312=)
|
|
|
NM_001918.5(DBT):c.939+10A>G
|
rs1450707467
|
|
NM_001918.5(DBT):c.939+13C>G
|
|
|
NM_001918.5(DBT):c.939+7T>C
|
|
|
NM_001918.5(DBT):c.940-10T>C
|
rs1306548973
|
|
NM_001918.5(DBT):c.940-17C>A
|
|
|
NM_001918.5(DBT):c.940-18T>G
|
rs2100788572
|
|
NM_001918.5(DBT):c.940-4A>C
|
|
|
NM_001918.5(DBT):c.940-5A>C
|
rs1296647053
|
|
NM_001918.5(DBT):c.940-7T>C
|
rs2100788531
|
|
NM_001918.5(DBT):c.940-7del
|
rs2100788542
|
|
NM_001918.5(DBT):c.940-9G>T
|
|
|
NM_001918.5(DBT):c.945T>C (p.Ala315=)
|
rs2100788485
|
|
NM_001918.5(DBT):c.960A>G (p.Leu320=)
|
rs2100788475
|
|
NM_001918.5(DBT):c.963G>A (p.Gln321=)
|
rs762063921
|
|
NM_001918.5(DBT):c.990T>C (p.Asp330=)
|
rs2100788342
|
|
NM_001918.5(DBT):c.99G>A (p.Lys33=)
|
rs2100844736
|
|
NM_001918.5(DBT):c.9A>T (p.Ala3=)
|
rs772869478
|
|
NM_001958.5(EEF1A2):c.1002G>A (p.Pro334=)
|
rs759770756
|
|
NM_001958.5(EEF1A2):c.1020C>T (p.Phe340=)
|
rs2145939960
|
|
NM_001958.5(EEF1A2):c.1023C>T (p.Thr341=)
|
|
|
NM_001958.5(EEF1A2):c.1029+11_1029+12delinsAT
|
rs2145939944
|
|
NM_001958.5(EEF1A2):c.1030-10C>G
|
|
|
NM_001958.5(EEF1A2):c.1030-11T>G
|
|
|
NM_001958.5(EEF1A2):c.1030-20G>A
|
|
|
NM_001958.5(EEF1A2):c.1050G>A (p.Pro350=)
|
rs1222452639
|
|
NM_001958.5(EEF1A2):c.1059T>C (p.Ile353=)
|
|
|
NM_001958.5(EEF1A2):c.1068C>T (p.Gly356=)
|
|
|
NM_001958.5(EEF1A2):c.1077G>A (p.Pro359=)
|
|
|
NM_001958.5(EEF1A2):c.1077G>C (p.Pro359=)
|
|
|
NM_001958.5(EEF1A2):c.1119G>A (p.Ala373=)
|
|
|
NM_001958.5(EEF1A2):c.1137T>A (p.Ile379=)
|
rs1204115008
|
|
NM_001958.5(EEF1A2):c.114C>G (p.Thr38=)
|
|
|
NM_001958.5(EEF1A2):c.1159C>T (p.Leu387=)
|
rs2145938785
|
|
NM_001958.5(EEF1A2):c.1161G>A (p.Leu387=)
|
|
|
NM_001958.5(EEF1A2):c.1164G>A (p.Glu388=)
|
|
|
NM_001958.5(EEF1A2):c.1182G>A (p.Leu394=)
|
rs199643016
|
|
NM_001958.5(EEF1A2):c.1197G>A (p.Ala399=)
|
rs1243124575
|
|
NM_001958.5(EEF1A2):c.1200C>T (p.Ala400=)
|
|
|
NM_001958.5(EEF1A2):c.1203C>A (p.Ile401=)
|
rs758653621
|
|
NM_001958.5(EEF1A2):c.1215G>C (p.Val405=)
|
rs1600902095
|
|
NM_001958.5(EEF1A2):c.1264+13G>C
|
rs2145938697
|
|
NM_001958.5(EEF1A2):c.1264+17C>G
|
|
|
NM_001958.5(EEF1A2):c.1264+17C>T
|
|
|
NM_001958.5(EEF1A2):c.1264+17del
|
|
|
NM_001958.5(EEF1A2):c.1264+7C>A
|
rs1043290712
|
|
NM_001958.5(EEF1A2):c.1264+7C>G
|
rs1043290712
|
|
NM_001958.5(EEF1A2):c.1265-10C>G
|
|
|
NM_001958.5(EEF1A2):c.1265-11C>T
|
rs762339090
|
|
NM_001958.5(EEF1A2):c.1265-12C>A
|
|
|
NM_001958.5(EEF1A2):c.1265-15C>A
|
rs200634874
|
|
NM_001958.5(EEF1A2):c.1265-16GCCCCCC[3]
|
rs760400114
|
|
NM_001958.5(EEF1A2):c.1265-23_1265-6dup
|
|
|
NM_001958.5(EEF1A2):c.1265-6C>T
|
|
|
NM_001958.5(EEF1A2):c.1265-7C>T
|
|
|
NM_001958.5(EEF1A2):c.1265-8C>G
|
rs1430868348
|
|
NM_001958.5(EEF1A2):c.1265-8C>T
|
|
|
NM_001958.5(EEF1A2):c.1272C>T (p.Phe424=)
|
|
|
NM_001958.5(EEF1A2):c.1275C>T (p.Ala425=)
|
|
|
NM_001958.5(EEF1A2):c.1296G>C (p.Thr432=)
|
rs200259257
|
|
NM_001958.5(EEF1A2):c.1296G>T (p.Thr432=)
|
rs200259257
|
|
NM_001958.5(EEF1A2):c.1302C>T (p.Ala434=)
|
rs1057522311
|
|
NM_001958.5(EEF1A2):c.1311C>G (p.Val437=)
|
|
|
NM_001958.5(EEF1A2):c.1311C>T (p.Val437=)
|
rs2145938170
|
|
NM_001958.5(EEF1A2):c.1332G>A (p.Lys444=)
|
|
|
NM_001958.5(EEF1A2):c.1344C>G (p.Ala448=)
|
|
|
NM_001958.5(EEF1A2):c.1344C>T (p.Ala448=)
|
|
|
NM_001958.5(EEF1A2):c.1356C>A (p.Thr452=)
|
|
|
NM_001958.5(EEF1A2):c.1356C>G (p.Thr452=)
|
|
|
NM_001958.5(EEF1A2):c.1365G>A (p.Ala455=)
|
rs1600901507
|
|
NM_001958.5(EEF1A2):c.1374G>A (p.Ala458=)
|
rs2145938105
|
|
NM_001958.5(EEF1A2):c.1383G>A (p.Ala461=)
|
rs781155823
|
|
NM_001958.5(EEF1A2):c.144+12A>G
|
|
|
NM_001958.5(EEF1A2):c.144+6C>T
|
rs1179785181
|
|
NM_001958.5(EEF1A2):c.144+8C>A
|
rs2145946769
|
|
NM_001958.5(EEF1A2):c.145-18G>C
|
|
|
NM_001958.5(EEF1A2):c.145-20G>A
|
rs756963600
|
|
NM_001958.5(EEF1A2):c.145-20G>T
|
rs756963600
|
|
NM_001958.5(EEF1A2):c.145-7G>A
|
rs536472004
|
|
NM_001958.5(EEF1A2):c.145-7_145-6del
|
rs781781112
|
|
NM_001958.5(EEF1A2):c.150G>C (p.Gly50=)
|
rs751627255
|
|
NM_001958.5(EEF1A2):c.180G>T (p.Leu60=)
|
rs760484799
|
|
NM_001958.5(EEF1A2):c.195G>A (p.Ala65=)
|
|
|
NM_001958.5(EEF1A2):c.222C>T (p.Asp74=)
|
|
|
NM_001958.5(EEF1A2):c.228C>A (p.Ser76=)
|
rs770506057
|
|
NM_001958.5(EEF1A2):c.231C>G (p.Leu77=)
|
rs1600908507
|
|
NM_001958.5(EEF1A2):c.273T>C (p.Asp91=)
|
rs1555883864
|
|
NM_001958.5(EEF1A2):c.288C>A (p.Arg96=)
|
|
|
NM_001958.5(EEF1A2):c.28A>T (p.Ile10Phe)
|
rs2145946874
|
|
NM_001958.5(EEF1A2):c.324+8G>A
|
|
|
NM_001958.5(EEF1A2):c.324+9G>A
|
rs2145945388
|
|
NM_001958.5(EEF1A2):c.325-14C>A
|
|
|
NM_001958.5(EEF1A2):c.325-14C>T
|
rs2082410940
|
|
NM_001958.5(EEF1A2):c.325-20C>A
|
|
|
NM_001958.5(EEF1A2):c.332G>A (p.Cys111Tyr)
|
rs2145944981
|
|
NM_001958.5(EEF1A2):c.333C>T (p.Cys111=)
|
|
|
NM_001958.5(EEF1A2):c.384C>T (p.Ser128=)
|
|
|
NM_001958.5(EEF1A2):c.390T>C (p.Asn130=)
|
rs764383059
|
|
NM_001958.5(EEF1A2):c.398C>T (p.Thr133Met)
|
rs1555883816
|
|
NM_001958.5(EEF1A2):c.426G>T (p.Thr142=)
|
|
|
NM_001958.5(EEF1A2):c.444C>T (p.Leu148=)
|
|
|
NM_001958.5(EEF1A2):c.447C>A (p.Ile149=)
|
|
|
NM_001958.5(EEF1A2):c.468C>T (p.Asp156=)
|
|
|
NM_001958.5(EEF1A2):c.471C>G (p.Ser157=)
|
rs1600907789
|
|
NM_001958.5(EEF1A2):c.513C>T (p.Val171=)
|
rs201149992
|
|
NM_001958.5(EEF1A2):c.522C>T (p.Val174=)
|
|
|
NM_001958.5(EEF1A2):c.525C>T (p.Ser175=)
|
|
|
NM_001958.5(EEF1A2):c.549C>T (p.Tyr183=)
|
rs2145944762
|
|
NM_001958.5(EEF1A2):c.54C>G (p.Ser18=)
|
rs200759764
|
|
NM_001958.5(EEF1A2):c.54C>T (p.Ser18=)
|
rs200759764
|
|
NM_001958.5(EEF1A2):c.555G>A (p.Pro185=)
|
|
|
NM_001958.5(EEF1A2):c.621+10G>T
|
|
|
NM_001958.5(EEF1A2):c.621+14_621+18dup
|
|
|
NM_001958.5(EEF1A2):c.621+16G>A
|
|
|
NM_001958.5(EEF1A2):c.621+7G>T
|
rs1376340355
|
|
NM_001958.5(EEF1A2):c.622-17T>G
|
|
|
NM_001958.5(EEF1A2):c.627G>A (p.Pro209=)
|
|
|
NM_001958.5(EEF1A2):c.639C>T (p.Gly213=)
|
|
|
NM_001958.5(EEF1A2):c.682C>T (p.Leu228=)
|
rs1555883739
|
|
NM_001958.5(EEF1A2):c.685C>T (p.Leu229=)
|
|
|
NM_001958.5(EEF1A2):c.687G>C (p.Leu229=)
|
|
|
NM_001958.5(EEF1A2):c.6C>G (p.Gly2=)
|
|
|
NM_001958.5(EEF1A2):c.706C>T (p.Leu236=)
|
|
|
NM_001958.5(EEF1A2):c.711C>T (p.Pro237=)
|
|
|
NM_001958.5(EEF1A2):c.714C>A (p.Pro238=)
|
rs557317848
|
|
NM_001958.5(EEF1A2):c.714C>G (p.Pro238=)
|
rs557317848
|
|
NM_001958.5(EEF1A2):c.714C>T (p.Pro238=)
|
rs557317848
|
|
NM_001958.5(EEF1A2):c.729C>T (p.Asp243=)
|
|
|
NM_001958.5(EEF1A2):c.735C>G (p.Pro245=)
|
rs2082398925
|
|
NM_001958.5(EEF1A2):c.756C>T (p.Asp252=)
|
|
|
NM_001958.5(EEF1A2):c.759G>A (p.Val253=)
|
|
|
NM_001958.5(EEF1A2):c.772+10G>A
|
rs2145943548
|
|
NM_001958.5(EEF1A2):c.772+11G>A
|
|
|
NM_001958.5(EEF1A2):c.772+14C>T
|
|
|
NM_001958.5(EEF1A2):c.772+16G>A
|
|
|
NM_001958.5(EEF1A2):c.772+19C>T
|
|
|
NM_001958.5(EEF1A2):c.772+7A>G
|
|
|
NM_001958.5(EEF1A2):c.773-12del
|
|
|
NM_001958.5(EEF1A2):c.810C>T (p.Gly270=)
|
|
|
NM_001958.5(EEF1A2):c.819G>A (p.Arg273=)
|
|
|
NM_001958.5(EEF1A2):c.822G>A (p.Pro274=)
|
|
|
NM_001958.5(EEF1A2):c.858C>T (p.Thr286=)
|
rs1238751886
|
|
NM_001958.5(EEF1A2):c.870G>A (p.Lys290=)
|
|
|
NM_001958.5(EEF1A2):c.873A>C (p.Ser291=)
|
|
|
NM_001958.5(EEF1A2):c.87C>T (p.Tyr29=)
|
|
|
NM_001958.5(EEF1A2):c.909G>A (p.Leu303=)
|
|
|
NM_001958.5(EEF1A2):c.930C>T (p.Phe310=)
|
rs2145940056
|
|
NM_001958.5(EEF1A2):c.933T>C (p.Asn311=)
|
rs2145940054
|
|
NM_001958.5(EEF1A2):c.947C>T (p.Ser316Leu)
|
rs2082374152
|
|
NM_001958.5(EEF1A2):c.957C>T (p.Asp319=)
|
rs1054278909
|
|
NM_001958.5(EEF1A2):c.966G>C (p.Arg322=)
|
|
|
NM_001958.5(EEF1A2):c.972C>T (p.Asn324=)
|
|
|
NM_001958.5(EEF1A2):c.984C>T (p.Asp328=)
|
rs2145940003
|
|
NM_001985.3(ETFB):c.111C>T (p.Ser37=)
|
|
|
NM_001985.3(ETFB):c.117C>T (p.Asn39=)
|
rs2123591099
|
|
NM_001985.3(ETFB):c.123C>T (p.Phe41=)
|
|
|
NM_001985.3(ETFB):c.12G>A (p.Leu4=)
|
|
|
NM_001985.3(ETFB):c.12G>C (p.Leu4=)
|
|
|
NM_001985.3(ETFB):c.132C>T (p.Ile44=)
|
rs374935848
|
|
NM_001985.3(ETFB):c.135G>C (p.Ala45=)
|
|
|
NM_001985.3(ETFB):c.138G>C (p.Val46=)
|
rs537142189
|
|
NM_001985.3(ETFB):c.156C>G (p.Leu52=)
|
|
|
NM_001985.3(ETFB):c.15C>T (p.Arg5=)
|
|
|
NM_001985.3(ETFB):c.174G>A (p.Val58=)
|
|
|
NM_001985.3(ETFB):c.180G>A (p.Glu60=)
|
|
|
NM_001985.3(ETFB):c.186C>T (p.Ile62=)
|
|
|
NM_001985.3(ETFB):c.201G>A (p.Gly67=)
|
|
|
NM_001985.3(ETFB):c.216+10G>A
|
|
|
NM_001985.3(ETFB):c.216+12C>T
|
|
|
NM_001985.3(ETFB):c.216+20G>C
|
|
|
NM_001985.3(ETFB):c.217-14T>G
|
|
|
NM_001985.3(ETFB):c.217-15C>T
|
|
|
NM_001985.3(ETFB):c.222G>A (p.Thr74=)
|
|
|
NM_001985.3(ETFB):c.225T>A (p.Ile75=)
|
|
|
NM_001985.3(ETFB):c.231C>T (p.Thr77=)
|
|
|
NM_001985.3(ETFB):c.252C>T (p.Asp84=)
|
rs1599842126
|
|
NM_001985.3(ETFB):c.253C>A (p.Arg85=)
|
rs187424345
|
|
NM_001985.3(ETFB):c.267G>A (p.Val89=)
|
rs984710058
|
|
NM_001985.3(ETFB):c.267G>T (p.Val89=)
|
|
|
NM_001985.3(ETFB):c.273G>A (p.Val91=)
|
|
|
NM_001985.3(ETFB):c.282A>G (p.Ala94=)
|
|
|
NM_001985.3(ETFB):c.285A>G (p.Glu95=)
|
|
|
NM_001985.3(ETFB):c.297G>A (p.Leu99=)
|
|
|
NM_001985.3(ETFB):c.306G>A (p.Leu102=)
|
|
|
NM_001985.3(ETFB):c.30C>G (p.Val10=)
|
|
|
NM_001985.3(ETFB):c.315T>A (p.Ala105=)
|
|
|
NM_001985.3(ETFB):c.324G>A (p.Leu108=)
|
|
|
NM_001985.3(ETFB):c.327C>A (p.Ala109=)
|
|
|
NM_001985.3(ETFB):c.33G>A (p.Lys11=)
|
|
|
NM_001985.3(ETFB):c.351G>A (p.Val117=)
|
|
|
NM_001985.3(ETFB):c.355C>T (p.Leu119=)
|
|
|
NM_001985.3(ETFB):c.375+14G>A
|
rs757521352
|
|
NM_001985.3(ETFB):c.375+16C>T
|
|
|
NM_001985.3(ETFB):c.375+19C>T
|
|
|
NM_001985.3(ETFB):c.375+7G>C
|
|
|
NM_001985.3(ETFB):c.376-12C>T
|
|
|
NM_001985.3(ETFB):c.376-7C>T
|
|
|
NM_001985.3(ETFB):c.381C>T (p.Ile127=)
|
|
|
NM_001985.3(ETFB):c.414A>G (p.Thr138=)
|
rs1178011139
|
|
NM_001985.3(ETFB):c.438+12G>T
|
|
|
NM_001985.3(ETFB):c.438+13T>G
|
|
|
NM_001985.3(ETFB):c.438+7C>T
|
|
|
NM_001985.3(ETFB):c.439-18T>C
|
|
|
NM_001985.3(ETFB):c.439-20_439-18del
|
|
|
NM_001985.3(ETFB):c.439-4C>T
|
rs2035246995
|
|
NM_001985.3(ETFB):c.450C>A (p.Ala150=)
|
|
|
NM_001985.3(ETFB):c.456G>A (p.Gln152=)
|
|
|
NM_001985.3(ETFB):c.462G>A (p.Thr154=)
|
|
|
NM_001985.3(ETFB):c.480G>A (p.Leu160=)
|
rs2123572721
|
|
NM_001985.3(ETFB):c.48C>T (p.Tyr16=)
|
rs1201149156
|
|
NM_001985.3(ETFB):c.492G>A (p.Arg164=)
|
|
|
NM_001985.3(ETFB):c.498C>T (p.Ile166=)
|
rs150636733
|
|
NM_001985.3(ETFB):c.504G>C (p.Gly168=)
|
|
|
NM_001985.3(ETFB):c.519G>C (p.Leu173=)
|
rs933129897
|
|
NM_001985.3(ETFB):c.531G>A (p.Leu177=)
|
|
|
NM_001985.3(ETFB):c.553C>T (p.Leu185=)
|
|
|
NM_001985.3(ETFB):c.564C>T (p.Asn188=)
|
|
|
NM_001985.3(ETFB):c.57+10C>A
|
|
|
NM_001985.3(ETFB):c.57+10C>T
|
|
|
NM_001985.3(ETFB):c.57+11C>A
|
|
|
NM_001985.3(ETFB):c.57+14C>G
|
|
|
NM_001985.3(ETFB):c.57+16T>C
|
|
|
NM_001985.3(ETFB):c.57+9G>A
|
|
|
NM_001985.3(ETFB):c.58-10T>C
|
|
|
NM_001985.3(ETFB):c.58-10T>G
|
|
|
NM_001985.3(ETFB):c.58-12C>T
|
|
|
NM_001985.3(ETFB):c.58-15C>T
|
|
|
NM_001985.3(ETFB):c.58-20C>T
|
|
|
NM_001985.3(ETFB):c.58-8_58-6del
|
|
|
NM_001985.3(ETFB):c.588C>G (p.Pro196=)
|
|
|
NM_001985.3(ETFB):c.597+12_597+25del
|
rs756531454
|
|
NM_001985.3(ETFB):c.597+13C>G
|
|
|
NM_001985.3(ETFB):c.597+17C>A
|
rs372586153
|
|
NM_001985.3(ETFB):c.597+17C>G
|
|
|
NM_001985.3(ETFB):c.597+17C>T
|
|
|
NM_001985.3(ETFB):c.597+18G>A
|
|
|
NM_001985.3(ETFB):c.597+19G>A
|
|
|
NM_001985.3(ETFB):c.597+9C>G
|
rs1985800060
|
|
NM_001985.3(ETFB):c.597+9C>T
|
|
|
NM_001985.3(ETFB):c.598-10C>T
|
|
|
NM_001985.3(ETFB):c.598-15G>A
|
|
|
NM_001985.3(ETFB):c.598-15G>C
|
|
|
NM_001985.3(ETFB):c.598-18A>G
|
|
|
NM_001985.3(ETFB):c.598-6G>A
|
|
|
NM_001985.3(ETFB):c.598-7T>C
|
|
|
NM_001985.3(ETFB):c.598-8A>T
|
|
|
NM_001985.3(ETFB):c.598-9C>T
|
|
|
NM_001985.3(ETFB):c.61C>A (p.Arg21=)
|
|
|
NM_001985.3(ETFB):c.636G>A (p.Gly212=)
|
|
|
NM_001985.3(ETFB):c.648G>T (p.Val216=)
|
|
|
NM_001985.3(ETFB):c.652C>T (p.Leu218=)
|
|
|
NM_001985.3(ETFB):c.654G>C (p.Leu218=)
|
|
|
NM_001985.3(ETFB):c.663G>A (p.Lys221=)
|
|
|
NM_001985.3(ETFB):c.666C>G (p.Leu222=)
|
|
|
NM_001985.3(ETFB):c.666C>T (p.Leu222=)
|
|
|
NM_001985.3(ETFB):c.669T>C (p.Ser223=)
|
|
|
NM_001985.3(ETFB):c.690G>A (p.Pro230=)
|
|
|
NM_001985.3(ETFB):c.69G>A (p.Lys23=)
|
|
|
NM_001985.3(ETFB):c.6G>A (p.Ala2=)
|
|
|
NM_001985.3(ETFB):c.6G>T (p.Ala2=)
|
rs2123621104
|
|
NM_001985.3(ETFB):c.705C>A (p.Ala235=)
|
|
|
NM_001985.3(ETFB):c.726T>C (p.Thr242=)
|
|
|
NM_001985.3(ETFB):c.72T>A (p.Pro24=)
|
|
|
NM_001985.3(ETFB):c.732C>T (p.Asp244=)
|
|
|
NM_001985.3(ETFB):c.747G>A (p.Leu249=)
|
|
|
NM_001985.3(ETFB):c.75C>T (p.Asp25=)
|
|
|
NM_001985.3(ETFB):c.760C>A (p.Arg254=)
|
|
|
NM_001985.3(ETFB):c.762G>T (p.Arg254=)
|
rs2123567151
|
|
NM_001985.3(ETFB):c.93G>C (p.Thr31=)
|
|
|
NM_001985.3(ETFB):c.99T>C (p.Gly33=)
|
rs2123591146
|
|
NM_001985.3(ETFB):c.9G>A (p.Glu3=)
|
rs2123621091
|
|
NM_002150.3(HPD):c.1005C>A (p.Ile335=)
|
|
|
NM_002150.3(HPD):c.1017G>A (p.Pro339=)
|
|
|
NM_002150.3(HPD):c.1023G>A (p.Gln341=)
|
|
|
NM_002150.3(HPD):c.1026C>T (p.Asp342=)
|
|
|
NM_002150.3(HPD):c.1029G>A (p.Arg343=)
|
|
|
NM_002150.3(HPD):c.1032C>A (p.Pro344=)
|
|
|
NM_002150.3(HPD):c.1032C>T (p.Pro344=)
|
|
|
NM_002150.3(HPD):c.1071+12C>T
|
|
|
NM_002150.3(HPD):c.1071+13C>T
|
|
|
NM_002150.3(HPD):c.1071+15C>T
|
|
|
NM_002150.3(HPD):c.1072-16C>G
|
|
|
NM_002150.3(HPD):c.1072-18CT[2]
|
|
|
NM_002150.3(HPD):c.1072-18_1072-16del
|
|
|
NM_002150.3(HPD):c.1072-4A>G
|
|
|
NM_002150.3(HPD):c.1072-7G>T
|
|
|
NM_002150.3(HPD):c.1077T>C (p.Phe359=)
|
|
|
NM_002150.3(HPD):c.1083C>G (p.Ala361=)
|
|
|
NM_002150.3(HPD):c.1086C>A (p.Gly362=)
|
|
|
NM_002150.3(HPD):c.1098A>G (p.Ser366=)
|
|
|
NM_002150.3(HPD):c.1116G>A (p.Glu372=)
|
rs2137605580
|
|
NM_002150.3(HPD):c.1134G>A (p.Arg378=)
|
|
|
NM_002150.3(HPD):c.1155G>A (p.Glu385=)
|
|
|
NM_002150.3(HPD):c.1164G>A (p.Gly388=)
|
|
|
NM_002150.3(HPD):c.1173C>G (p.Pro391=)
|
|
|
NM_002150.3(HPD):c.1176C>T (p.Gly392=)
|
|
|
NM_002150.3(HPD):c.123C>T (p.Gly41=)
|
|
|
NM_002150.3(HPD):c.126T>C (p.Phe42=)
|
|
|
NM_002150.3(HPD):c.141C>T (p.Tyr47=)
|
|
|
NM_002150.3(HPD):c.147C>A (p.Gly49=)
|
|
|
NM_002150.3(HPD):c.147C>T (p.Gly49=)
|
|
|
NM_002150.3(HPD):c.168G>A (p.Glu56=)
|
|
|
NM_002150.3(HPD):c.183A>G (p.Val61=)
|
|
|
NM_002150.3(HPD):c.198+12C>T
|
|
|
NM_002150.3(HPD):c.199-10_199-8del
|
|
|
NM_002150.3(HPD):c.199-19C>T
|
|
|
NM_002150.3(HPD):c.199-7A>G
|
|
|
NM_002150.3(HPD):c.199-8T>C
|
|
|
NM_002150.3(HPD):c.204G>C (p.Val68=)
|
|
|
NM_002150.3(HPD):c.222G>A (p.Ala74=)
|
|
|
NM_002150.3(HPD):c.241+10C>T
|
|
|
NM_002150.3(HPD):c.241+11C>G
|
|
|
NM_002150.3(HPD):c.241+11C>T
|
|
|
NM_002150.3(HPD):c.241+12G>A
|
|
|
NM_002150.3(HPD):c.241+14G>A
|
|
|
NM_002150.3(HPD):c.241+18G>A
|
|
|
NM_002150.3(HPD):c.242-9C>T
|
|
|
NM_002150.3(HPD):c.261G>C (p.Val87=)
|
|
|
NM_002150.3(HPD):c.267C>T (p.His89=)
|
|
|
NM_002150.3(HPD):c.288T>C (p.Ile96=)
|
|
|
NM_002150.3(HPD):c.297G>A (p.Glu99=)
|
|
|
NM_002150.3(HPD):c.3+11T>C
|
|
|
NM_002150.3(HPD):c.3+11del
|
|
|
NM_002150.3(HPD):c.3+14C>T
|
|
|
NM_002150.3(HPD):c.3+16A>G
|
|
|
NM_002150.3(HPD):c.3+20C>A
|
|
|
NM_002150.3(HPD):c.30+10C>A
|
|
|
NM_002150.3(HPD):c.30+10C>T
|
|
|
NM_002150.3(HPD):c.30+11G>A
|
|
|
NM_002150.3(HPD):c.30+15T>G
|
|
|
NM_002150.3(HPD):c.30+7A>C
|
|
|
NM_002150.3(HPD):c.30+9G>A
|
|
|
NM_002150.3(HPD):c.31-12C>T
|
rs1566574884
|
|
NM_002150.3(HPD):c.31-14C>T
|
|
|
NM_002150.3(HPD):c.31-16_31-15del
|
|
|
NM_002150.3(HPD):c.31-20C>T
|
|
|
NM_002150.3(HPD):c.31-7_31-5del
|
|
|
NM_002150.3(HPD):c.315C>T (p.Tyr105=)
|
|
|
NM_002150.3(HPD):c.324+12C>T
|
rs1394625839
|
|
NM_002150.3(HPD):c.324+19G>A
|
|
|
NM_002150.3(HPD):c.324+20G>T
|
|
|
NM_002150.3(HPD):c.324+8A>G
|
rs2137630925
|
|
NM_002150.3(HPD):c.324+9G>A
|
|
|
NM_002150.3(HPD):c.324+9G>C
|
|
|
NM_002150.3(HPD):c.325-12T>A
|
|
|
NM_002150.3(HPD):c.325-15C>T
|
|
|
NM_002150.3(HPD):c.325-19G>A
|
|
|
NM_002150.3(HPD):c.325-19G>C
|
rs200528285
|
|
NM_002150.3(HPD):c.325-20C>T
|
|
|
NM_002150.3(HPD):c.325-4G>T
|
|
|
NM_002150.3(HPD):c.325-8_325-6del
|
|
|
NM_002150.3(HPD):c.33T>C (p.Pro11=)
|
|
|
NM_002150.3(HPD):c.33T>G (p.Pro11=)
|
|
|
NM_002150.3(HPD):c.342C>A (p.Gly114=)
|
|
|
NM_002150.3(HPD):c.355C>A (p.Arg119=)
|
rs745739337
|
|
NM_002150.3(HPD):c.36G>A (p.Glu12=)
|
|
|
NM_002150.3(HPD):c.381G>A (p.Lys127=)
|
|
|
NM_002150.3(HPD):c.4-17C>T
|
|
|
NM_002150.3(HPD):c.4-6C>T
|
|
|
NM_002150.3(HPD):c.414+11T>C
|
|
|
NM_002150.3(HPD):c.414+12T>C
|
|
|
NM_002150.3(HPD):c.414+14G>A
|
|
|
NM_002150.3(HPD):c.414+18C>A
|
|
|
NM_002150.3(HPD):c.414+18C>G
|
|
|
NM_002150.3(HPD):c.415-19G>C
|
|
|
NM_002150.3(HPD):c.415-5C>T
|
|
|
NM_002150.3(HPD):c.415-9C>T
|
|
|
NM_002150.3(HPD):c.420G>A (p.Gly140=)
|
|
|
NM_002150.3(HPD):c.42C>T (p.Gly14=)
|
|
|
NM_002150.3(HPD):c.459C>T (p.Ile153=)
|
|
|
NM_002150.3(HPD):c.471G>A (p.Leu157=)
|
|
|
NM_002150.3(HPD):c.474T>G (p.Pro158=)
|
|
|
NM_002150.3(HPD):c.492G>A (p.Ala164=)
|
|
|
NM_002150.3(HPD):c.518+12T>C
|
|
|
NM_002150.3(HPD):c.518+13C>T
|
|
|
NM_002150.3(HPD):c.518+14A>G
|
|
|
NM_002150.3(HPD):c.518+17G>T
|
|
|
NM_002150.3(HPD):c.519-16C>T
|
|
|
NM_002150.3(HPD):c.519-20_519-19dup
|
|
|
NM_002150.3(HPD):c.519-8C>T
|
|
|
NM_002150.3(HPD):c.537G>A (p.Glu179=)
|
rs2137618516
|
|
NM_002150.3(HPD):c.543C>A (p.Ile181=)
|
|
|
NM_002150.3(HPD):c.543C>T (p.Ile181=)
|
rs756242095
|
|
NM_002150.3(HPD):c.573G>A (p.Gln191=)
|
|
|
NM_002150.3(HPD):c.585C>T (p.Ser195=)
|
|
|
NM_002150.3(HPD):c.588C>T (p.Ala196=)
|
|
|
NM_002150.3(HPD):c.591C>T (p.Ser197=)
|
|
|
NM_002150.3(HPD):c.596+12del
|
|
|
NM_002150.3(HPD):c.596+18T>C
|
|
|
NM_002150.3(HPD):c.596+7C>A
|
|
|
NM_002150.3(HPD):c.597-10C>T
|
|
|
NM_002150.3(HPD):c.597-13G>A
|
|
|
NM_002150.3(HPD):c.597-14C>T
|
|
|
NM_002150.3(HPD):c.597-16A>G
|
|
|
NM_002150.3(HPD):c.597-18C>T
|
|
|
NM_002150.3(HPD):c.597-20T>C
|
|
|
NM_002150.3(HPD):c.597-7C>T
|
|
|
NM_002150.3(HPD):c.60C>T (p.His20=)
|
|
|
NM_002150.3(HPD):c.618C>T (p.Phe206=)
|
|
|
NM_002150.3(HPD):c.624C>T (p.Arg208=)
|
|
|
NM_002150.3(HPD):c.633C>G (p.Ser211=)
|
|
|
NM_002150.3(HPD):c.633C>T (p.Ser211=)
|
|
|
NM_002150.3(HPD):c.645G>A (p.Thr215=)
|
|
|
NM_002150.3(HPD):c.645G>C (p.Thr215=)
|
|
|
NM_002150.3(HPD):c.645G>T (p.Thr215=)
|
|
|
NM_002150.3(HPD):c.657G>A (p.Thr219=)
|
|
|
NM_002150.3(HPD):c.663T>C (p.Tyr221=)
|
|
|
NM_002150.3(HPD):c.666C>T (p.Ser222=)
|
|
|
NM_002150.3(HPD):c.684G>A (p.Val228=)
|
|
|
NM_002150.3(HPD):c.699A>G (p.Glu233=)
|
|
|
NM_002150.3(HPD):c.6G>A (p.Thr2=)
|
|
|
NM_002150.3(HPD):c.732G>A (p.Ala244=)
|
|
|
NM_002150.3(HPD):c.732G>T (p.Ala244=)
|
|
|
NM_002150.3(HPD):c.735T>A (p.Pro245=)
|
|
|
NM_002150.3(HPD):c.759+12C>T
|
|
|
NM_002150.3(HPD):c.759+17C>T
|
|
|
NM_002150.3(HPD):c.759+19G>C
|
|
|
NM_002150.3(HPD):c.759+19G>T
|
|
|
NM_002150.3(HPD):c.759+9G>A
|
|
|
NM_002150.3(HPD):c.759+9G>C
|
|
|
NM_002150.3(HPD):c.760-11C>G
|
|
|
NM_002150.3(HPD):c.760-18_760-16del
|
|
|
NM_002150.3(HPD):c.760-19_760-17del
|
|
|
NM_002150.3(HPD):c.777C>T (p.Asn259=)
|
|
|
NM_002150.3(HPD):c.780G>A (p.Gly260=)
|
|
|
NM_002150.3(HPD):c.783C>T (p.Gly261=)
|
|
|
NM_002150.3(HPD):c.789G>T (p.Gly263=)
|
|
|
NM_002150.3(HPD):c.798C>T (p.His266=)
|
|
|
NM_002150.3(HPD):c.831+11C>G
|
|
|
NM_002150.3(HPD):c.831+11C>T
|
|
|
NM_002150.3(HPD):c.831+12C>T
|
|
|
NM_002150.3(HPD):c.831+16C>A
|
|
|
NM_002150.3(HPD):c.831+7A>T
|
|
|
NM_002150.3(HPD):c.831+9C>A
|
|
|
NM_002150.3(HPD):c.831+9C>T
|
|
|
NM_002150.3(HPD):c.832-12G>A
|
|
|
NM_002150.3(HPD):c.832-15T>C
|
|
|
NM_002150.3(HPD):c.832-16C>T
|
|
|
NM_002150.3(HPD):c.84C>T (p.Asn28=)
|
rs1441672343
|
|
NM_002150.3(HPD):c.852A>G (p.Arg284=)
|
|
|
NM_002150.3(HPD):c.867A>G (p.Leu289=)
|
|
|
NM_002150.3(HPD):c.87C>T (p.Ala29=)
|
|
|
NM_002150.3(HPD):c.882G>T (p.Thr294=)
|
|
|
NM_002150.3(HPD):c.906G>A (p.Lys302=)
|
|
|
NM_002150.3(HPD):c.90G>A (p.Lys30=)
|
|
|
NM_002150.3(HPD):c.93+10G>A
|
|
|
NM_002150.3(HPD):c.93+16A>G
|
|
|
NM_002150.3(HPD):c.94-13C>T
|
|
|
NM_002150.3(HPD):c.94-9G>A
|
|
|
NM_002150.3(HPD):c.942T>C (p.Ile314=)
|
|
|
NM_002150.3(HPD):c.945T>C (p.Asp315=)
|
|
|
NM_002150.3(HPD):c.949C>T (p.Leu317=)
|
|
|
NM_002150.3(HPD):c.954+17A>T
|
|
|
NM_002150.3(HPD):c.954+20C>T
|
|
|
NM_002150.3(HPD):c.954+9del
|
|
|
NM_002150.3(HPD):c.955-11C>T
|
|
|
NM_002150.3(HPD):c.955-14del
|
|
|
NM_002150.3(HPD):c.955-15_955-14del
|
|
|
NM_002150.3(HPD):c.955-19C>A
|
|
|
NM_002150.3(HPD):c.955-4C>T
|
|
|
NM_002150.3(HPD):c.955-6G>T
|
|
|
NM_002150.3(HPD):c.955-7C>G
|
rs554245277
|
|
NM_002150.3(HPD):c.955-7C>T
|
|
|
NM_002150.3(HPD):c.957G>A (p.Glu319=)
|
|
|
NM_002150.3(HPD):c.978C>T (p.Tyr326=)
|
rs781659195
|
|
NM_002150.3(HPD):c.987A>G (p.Lys329=)
|
|
|
NM_002150.3(HPD):c.993C>T (p.Tyr331=)
|
|
|
NM_002150.3(HPD):c.99G>A (p.Thr33=)
|
|
|
NM_002225.5(IVD):c.-4A>G
|
rs2141288785
|
|
NM_002225.5(IVD):c.1005G>C (p.Ala335=)
|
rs570369496
|
|
NM_002225.5(IVD):c.1023C>T (p.Tyr341=)
|
rs2141360315
|
|
NM_002225.5(IVD):c.1029C>T (p.Val343=)
|
rs896815486
|
|
NM_002225.5(IVD):c.102C>G (p.Pro34=)
|
rs2141289869
|
|
NM_002225.5(IVD):c.102C>T (p.Pro34=)
|
|
|
NM_002225.5(IVD):c.1044T>C (p.Asp348=)
|
rs2141360469
|
|
NM_002225.5(IVD):c.1059T>C (p.Thr353=)
|
rs2141360637
|
|
NM_002225.5(IVD):c.1065+11G>C
|
|
|
NM_002225.5(IVD):c.1065+13C>T
|
|
|
NM_002225.5(IVD):c.1065+16A>C
|
|
|
NM_002225.5(IVD):c.1065+19C>T
|
|
|
NM_002225.5(IVD):c.1065+20G>A
|
|
|
NM_002225.5(IVD):c.1065+7G>A
|
rs1238566157
|
|
NM_002225.5(IVD):c.1066-18C>G
|
|
|
NM_002225.5(IVD):c.1066-18C>T
|
|
|
NM_002225.5(IVD):c.1066-19C>T
|
|
|
NM_002225.5(IVD):c.1066-4G>T
|
|
|
NM_002225.5(IVD):c.1080G>T (p.Val360=)
|
|
|
NM_002225.5(IVD):c.1092A>G (p.Ser364=)
|
rs2141361852
|
|
NM_002225.5(IVD):c.1092A>T (p.Ser364=)
|
|
|
NM_002225.5(IVD):c.1095T>C (p.Ala365=)
|
rs1595790601
|
|
NM_002225.5(IVD):c.1104C>T (p.Ala368=)
|
rs1050218
|
|
NM_002225.5(IVD):c.1107A>C (p.Thr369=)
|
|
|
NM_002225.5(IVD):c.1107A>G (p.Thr369=)
|
rs1286789645
|
|
NM_002225.5(IVD):c.1110G>A (p.Gln370=)
|
|
|
NM_002225.5(IVD):c.1119G>A (p.Leu373=)
|
rs1891680267
|
|
NM_002225.5(IVD):c.1138+10C>A
|
|
|
NM_002225.5(IVD):c.1138+13C>A
|
|
|
NM_002225.5(IVD):c.1138+14A>C
|
|
|
NM_002225.5(IVD):c.1138+19C>G
|
|
|
NM_002225.5(IVD):c.1138+20C>T
|
|
|
NM_002225.5(IVD):c.1139-10C>G
|
|
|
NM_002225.5(IVD):c.1139-11C>A
|
|
|
NM_002225.5(IVD):c.1139-11C>G
|
|
|
NM_002225.5(IVD):c.1139-12C>T
|
|
|
NM_002225.5(IVD):c.1139-16C>T
|
|
|
NM_002225.5(IVD):c.1139-18C>T
|
|
|
NM_002225.5(IVD):c.1139-19G>T
|
|
|
NM_002225.5(IVD):c.1139-20T>C
|
|
|
NM_002225.5(IVD):c.1139-4G>A
|
|
|
NM_002225.5(IVD):c.1139-5T>G
|
|
|
NM_002225.5(IVD):c.1139-7G>A
|
rs2141373271
|
|
NM_002225.5(IVD):c.114A>G (p.Ala38=)
|
|
|
NM_002225.5(IVD):c.1155C>A (p.Ile385=)
|
|
|
NM_002225.5(IVD):c.1155C>T (p.Ile385=)
|
|
|
NM_002225.5(IVD):c.1167C>T (p.Pro389=)
|
rs2141373519
|
|
NM_002225.5(IVD):c.1188T>C (p.Asp396=)
|
|
|
NM_002225.5(IVD):c.1197G>A (p.Leu399=)
|
|
|
NM_002225.5(IVD):c.120T>C (p.Asn40=)
|
|
|
NM_002225.5(IVD):c.1212T>G (p.Ala404=)
|
|
|
NM_002225.5(IVD):c.1221C>T (p.Ser407=)
|
|
|
NM_002225.5(IVD):c.1242C>A (p.Ile414=)
|
|
|
NM_002225.5(IVD):c.1242C>T (p.Ile414=)
|
rs756694379
|
|
NM_002225.5(IVD):c.124C>T (p.Leu42=)
|
|
|
NM_002225.5(IVD):c.126A>C (p.Leu42=)
|
|
|
NM_002225.5(IVD):c.126A>G (p.Leu42=)
|
|
|
NM_002225.5(IVD):c.12G>C (p.Ala4=)
|
|
|
NM_002225.5(IVD):c.144+10C>G
|
rs2141290384
|
|
NM_002225.5(IVD):c.144+15C>T
|
|
|
NM_002225.5(IVD):c.144+17C>T
|
|
|
NM_002225.5(IVD):c.144+18C>T
|
|
|
NM_002225.5(IVD):c.144+20del
|
|
|
NM_002225.5(IVD):c.144+7A>C
|
rs1595750832
|
|
NM_002225.5(IVD):c.144+8G>A
|
rs1248918125
|
|
NM_002225.5(IVD):c.145-10C>T
|
rs1451681639
|
|
NM_002225.5(IVD):c.145-14C>T
|
|
|
NM_002225.5(IVD):c.145-19T>C
|
|
|
NM_002225.5(IVD):c.145-7C>T
|
rs2141301246
|
|
NM_002225.5(IVD):c.145-8C>G
|
|
|
NM_002225.5(IVD):c.145-8C>T
|
rs1890586123
|
|
NM_002225.5(IVD):c.145-9T>C
|
|
|
NM_002225.5(IVD):c.147T>C (p.Leu49=)
|
rs2141301309
|
|
NM_002225.5(IVD):c.156C>G (p.Thr52=)
|
rs2141301442
|
|
NM_002225.5(IVD):c.15T>C (p.Thr5=)
|
rs2141289023
|
|
NM_002225.5(IVD):c.162T>C (p.Ala54=)
|
|
|
NM_002225.5(IVD):c.174G>A (p.Gln58=)
|
rs2141301579
|
|
NM_002225.5(IVD):c.177G>A (p.Glu59=)
|
|
|
NM_002225.5(IVD):c.181C>T (p.Leu61=)
|
|
|
NM_002225.5(IVD):c.195C>T (p.Ala65=)
|
rs764288165
|
|
NM_002225.5(IVD):c.204C>A (p.Ile68=)
|
|
|
NM_002225.5(IVD):c.225G>A (p.Lys75=)
|
rs1018215813
|
|
NM_002225.5(IVD):c.232C>A (p.Arg78=)
|
|
|
NM_002225.5(IVD):c.234+10G>A
|
|
|
NM_002225.5(IVD):c.234+10del
|
rs745874056
|
|
NM_002225.5(IVD):c.234+16C>G
|
|
|
NM_002225.5(IVD):c.234+17G>A
|
rs568900608
|
|
NM_002225.5(IVD):c.234+17G>C
|
|
|
NM_002225.5(IVD):c.234+25_234+34dup
|
|
|
NM_002225.5(IVD):c.235-13A>G
|
|
|
NM_002225.5(IVD):c.235-15C>T
|
|
|
NM_002225.5(IVD):c.235-20C>T
|
|
|
NM_002225.5(IVD):c.235-5G>C
|
|
|
NM_002225.5(IVD):c.255G>A (p.Gly85=)
|
rs778593528
|
|
NM_002225.5(IVD):c.264C>A (p.Gly88=)
|
rs377199313
|
|
NM_002225.5(IVD):c.264C>G (p.Gly88=)
|
|
|
NM_002225.5(IVD):c.267A>G (p.Val89=)
|
|
|
NM_002225.5(IVD):c.268T>C (p.Leu90=)
|
|
|
NM_002225.5(IVD):c.270G>A (p.Leu90=)
|
|
|
NM_002225.5(IVD):c.286+14C>G
|
|
|
NM_002225.5(IVD):c.286+16_286+17del
|
rs775497134
|
|
NM_002225.5(IVD):c.286+18C>G
|
|
|
NM_002225.5(IVD):c.286+18C>T
|
|
|
NM_002225.5(IVD):c.286+3_286+6dup
|
|
|
NM_002225.5(IVD):c.287-10C>T
|
|
|
NM_002225.5(IVD):c.287-11A>G
|
|
|
NM_002225.5(IVD):c.287-12C>T
|
|
|
NM_002225.5(IVD):c.287-14C>G
|
|
|
NM_002225.5(IVD):c.287-18G>T
|
|
|
NM_002225.5(IVD):c.287-19T>G
|
|
|
NM_002225.5(IVD):c.294T>C (p.Tyr98=)
|
rs2141322944
|
|
NM_002225.5(IVD):c.297C>A (p.Gly99=)
|
rs377129112
|
|
NM_002225.5(IVD):c.300C>A (p.Gly100=)
|
|
|
NM_002225.5(IVD):c.300C>T (p.Gly100=)
|
|
|
NM_002225.5(IVD):c.306C>A (p.Gly102=)
|
rs1890967563
|
|
NM_002225.5(IVD):c.307C>T (p.Leu103=)
|
|
|
NM_002225.5(IVD):c.315C>T (p.Tyr105=)
|
|
|
NM_002225.5(IVD):c.321G>A (p.Glu107=)
|
rs1448958748
|
|
NM_002225.5(IVD):c.324T>C (p.His108=)
|
|
|
NM_002225.5(IVD):c.327G>A (p.Val109=)
|
|
|
NM_002225.5(IVD):c.339G>A (p.Glu113=)
|
|
|
NM_002225.5(IVD):c.33T>C (p.Arg11=)
|
rs2141289261
|
|
NM_002225.5(IVD):c.360A>G (p.Gly120=)
|
rs2141323670
|
|
NM_002225.5(IVD):c.363A>T (p.Ala121=)
|
|
|
NM_002225.5(IVD):c.369G>T (p.Gly123=)
|
|
|
NM_002225.5(IVD):c.36G>A (p.Val12=)
|
rs2141289293
|
|
NM_002225.5(IVD):c.378C>T (p.Tyr126=)
|
rs1360239245
|
|
NM_002225.5(IVD):c.381T>C (p.Gly127=)
|
rs2141323846
|
|
NM_002225.5(IVD):c.384C>A (p.Ala128=)
|
rs2141323906
|
|
NM_002225.5(IVD):c.387C>T (p.His129=)
|
|
|
NM_002225.5(IVD):c.402C>T (p.Ile134=)
|
|
|
NM_002225.5(IVD):c.420T>C (p.Asn140=)
|
rs1890984701
|
|
NM_002225.5(IVD):c.426T>C (p.Asn142=)
|
rs1025400393
|
|
NM_002225.5(IVD):c.432C>G (p.Ala144=)
|
rs1213604093
|
|
NM_002225.5(IVD):c.438A>G (p.Lys146=)
|
rs1007239169
|
|
NM_002225.5(IVD):c.444G>A (p.Lys148=)
|
rs768172531
|
|
NM_002225.5(IVD):c.447T>C (p.Tyr149=)
|
|
|
NM_002225.5(IVD):c.456+11G>A
|
|
|
NM_002225.5(IVD):c.456+11G>C
|
|
|
NM_002225.5(IVD):c.456+12G>A
|
|
|
NM_002225.5(IVD):c.456+12G>T
|
|
|
NM_002225.5(IVD):c.456+15A>G
|
|
|
NM_002225.5(IVD):c.457-12T>C
|
|
|
NM_002225.5(IVD):c.457-16G>A
|
|
|
NM_002225.5(IVD):c.457-19T>C
|
|
|
NM_002225.5(IVD):c.457-20G>A
|
|
|
NM_002225.5(IVD):c.457-20G>T
|
|
|
NM_002225.5(IVD):c.457-4G>A
|
rs2141328194
|
|
NM_002225.5(IVD):c.457-7C>T
|
rs2141328172
|
|
NM_002225.5(IVD):c.459G>C (p.Leu153=)
|
rs372974651
|
|
NM_002225.5(IVD):c.462C>A (p.Ile154=)
|
|
|
NM_002225.5(IVD):c.468T>A (p.Gly156=)
|
|
|
NM_002225.5(IVD):c.489C>T (p.Ala163=)
|
|
|
NM_002225.5(IVD):c.495T>C (p.Ser165=)
|
|
|
NM_002225.5(IVD):c.498G>A (p.Glu166=)
|
rs1891054324
|
|
NM_002225.5(IVD):c.49C>T (p.Leu17=)
|
|
|
NM_002225.5(IVD):c.504T>C (p.Asn168=)
|
rs1472673106
|
|
NM_002225.5(IVD):c.507A>G (p.Ala169=)
|
|
|
NM_002225.5(IVD):c.507A>T (p.Ala169=)
|
|
|
NM_002225.5(IVD):c.513T>C (p.Ser171=)
|
rs2141328958
|
|
NM_002225.5(IVD):c.522C>G (p.Val174=)
|
|
|
NM_002225.5(IVD):c.525T>C (p.Ser175=)
|
|
|
NM_002225.5(IVD):c.531G>A (p.Lys177=)
|
rs1891059665
|
|
NM_002225.5(IVD):c.550+10C>G
|
rs762786940
|
|
NM_002225.5(IVD):c.550+10C>T
|
rs762786940
|
|
NM_002225.5(IVD):c.550+17C>T
|
|
|
NM_002225.5(IVD):c.550+18T>G
|
|
|
NM_002225.5(IVD):c.550+19T>G
|
|
|
NM_002225.5(IVD):c.551-17C>T
|
|
|
NM_002225.5(IVD):c.551-5C>T
|
rs762840448
|
|
NM_002225.5(IVD):c.561C>T (p.Tyr187=)
|
|
|
NM_002225.5(IVD):c.564C>T (p.Ile188=)
|
rs1171530725
|
|
NM_002225.5(IVD):c.588C>T (p.Ile196=)
|
rs2141331170
|
|
NM_002225.5(IVD):c.591T>C (p.Thr197=)
|
|
|
NM_002225.5(IVD):c.612C>T (p.Val204=)
|
|
|
NM_002225.5(IVD):c.613C>T (p.Leu205=)
|
rs1891095620
|
|
NM_002225.5(IVD):c.624T>C (p.Tyr208=)
|
rs1267359192
|
|
NM_002225.5(IVD):c.630G>A (p.Lys210=)
|
rs1337743160
|
|
NM_002225.5(IVD):c.633A>C (p.Thr211=)
|
|
|
NM_002225.5(IVD):c.639G>C (p.Leu213=)
|
rs2141331622
|
|
NM_002225.5(IVD):c.642T>G (p.Ala214=)
|
rs2141331657
|
|
NM_002225.5(IVD):c.66C>G (p.Ala22=)
|
rs2141289538
|
|
NM_002225.5(IVD):c.66C>T (p.Ala22=)
|
|
|
NM_002225.5(IVD):c.681G>A (p.Val227=)
|
|
|
NM_002225.5(IVD):c.687+7_687+16del
|
rs975307399
|
|
NM_002225.5(IVD):c.687+8T>C
|
rs1426896228
|
|
NM_002225.5(IVD):c.687+8T>G
|
rs1426896228
|
|
NM_002225.5(IVD):c.688-13G>A
|
rs2141339742
|
|
NM_002225.5(IVD):c.688-19C>T
|
|
|
NM_002225.5(IVD):c.688-6G>A
|
rs770402490
|
|
NM_002225.5(IVD):c.69C>T (p.Gly23=)
|
|
|
NM_002225.5(IVD):c.6G>T (p.Ala2=)
|
|
|
NM_002225.5(IVD):c.708C>G (p.Thr236=)
|
|
|
NM_002225.5(IVD):c.717G>A (p.Lys239=)
|
|
|
NM_002225.5(IVD):c.720G>A (p.Leu240=)
|
rs2141340085
|
|
NM_002225.5(IVD):c.727C>T (p.Leu243=)
|
|
|
NM_002225.5(IVD):c.72C>T (p.Phe24=)
|
rs1403443551
|
|
NM_002225.5(IVD):c.732G>A (p.Gly244=)
|
|
|
NM_002225.5(IVD):c.738G>A (p.Arg246=)
|
|
|
NM_002225.5(IVD):c.750C>T (p.Thr250=)
|
rs2141340373
|
|
NM_002225.5(IVD):c.762C>A (p.Ile254=)
|
|
|
NM_002225.5(IVD):c.774C>T (p.Cys258=)
|
|
|
NM_002225.5(IVD):c.784+11C>T
|
|
|
NM_002225.5(IVD):c.784+15G>C
|
|
|
NM_002225.5(IVD):c.784+18del
|
|
|
NM_002225.5(IVD):c.784+19C>T
|
|
|
NM_002225.5(IVD):c.784+7A>T
|
|
|
NM_002225.5(IVD):c.785-19C>T
|
|
|
NM_002225.5(IVD):c.785-7C>T
|
rs2141351235
|
|
NM_002225.5(IVD):c.789C>T (p.Ala263=)
|
|
|
NM_002225.5(IVD):c.78C>G (p.Ser26=)
|
|
|
NM_002225.5(IVD):c.792C>T (p.Asn264=)
|
|
|
NM_002225.5(IVD):c.795C>T (p.Ile265=)
|
|
|
NM_002225.5(IVD):c.798G>A (p.Leu266=)
|
|
|
NM_002225.5(IVD):c.804T>C (p.His268=)
|
|
|
NM_002225.5(IVD):c.837G>A (p.Gly279=)
|
rs754853734
|
|
NM_002225.5(IVD):c.840G>A (p.Leu280=)
|
rs2141351717
|
|
NM_002225.5(IVD):c.844C>T (p.Leu282=)
|
|
|
NM_002225.5(IVD):c.846G>A (p.Leu282=)
|
|
|
NM_002225.5(IVD):c.84G>C (p.Arg28=)
|
|
|
NM_002225.5(IVD):c.864C>G (p.Ala288=)
|
|
|
NM_002225.5(IVD):c.870G>A (p.Gly290=)
|
rs1285915480
|
|
NM_002225.5(IVD):c.870G>T (p.Gly290=)
|
rs1285915480
|
|
NM_002225.5(IVD):c.878+15C>G
|
|
|
NM_002225.5(IVD):c.878+7G>A
|
|
|
NM_002225.5(IVD):c.879-12C>T
|
|
|
NM_002225.5(IVD):c.879-19C>T
|
|
|
NM_002225.5(IVD):c.879-5G>C
|
rs750569823
|
|
NM_002225.5(IVD):c.879-7C>T
|
rs2141355100
|
|
NM_002225.5(IVD):c.87C>A (p.Ala29=)
|
|
|
NM_002225.5(IVD):c.87C>G (p.Ala29=)
|
rs751297903
|
|
NM_002225.5(IVD):c.87C>T (p.Ala29=)
|
rs751297903
|
|
NM_002225.5(IVD):c.882C>G (p.Leu294=)
|
|
|
NM_002225.5(IVD):c.888A>G (p.Gln296=)
|
|
|
NM_002225.5(IVD):c.891G>T (p.Ala297=)
|
rs138427412
|
|
NM_002225.5(IVD):c.894C>T (p.Val298=)
|
rs1566940284
|
|
NM_002225.5(IVD):c.906C>A (p.Thr302=)
|
rs1891560320
|
|
NM_002225.5(IVD):c.912C>T (p.Pro304=)
|
rs1324916195
|
|
NM_002225.5(IVD):c.921C>T (p.His307=)
|
rs1304408183
|
|
NM_002225.5(IVD):c.930A>G (p.Glu310=)
|
rs1209121749
|
|
NM_002225.5(IVD):c.954C>T (p.His318=)
|
rs1595787254
|
|
NM_002225.5(IVD):c.957C>T (p.Phe319=)
|
rs1197885966
|
|
NM_002225.5(IVD):c.960+7C>A
|
|
|
NM_002225.5(IVD):c.961-13C>A
|
|
|
NM_002225.5(IVD):c.961-16A>G
|
|
|
NM_002225.5(IVD):c.961-20T>C
|
|
|
NM_002225.5(IVD):c.961-5C>T
|
|
|
NM_002225.5(IVD):c.990C>T (p.Tyr330=)
|
|
|
NM_002225.5(IVD):c.99G>A (p.Leu33=)
|
|
|
NM_002454.3(MTRR):c.1026T>G (p.Leu342=)
|
|
|
NM_002454.3(MTRR):c.1029G>A (p.Leu343=)
|
|
|
NM_002454.3(MTRR):c.102T>C (p.Asp34=)
|
|
|
NM_002454.3(MTRR):c.1032A>G (p.Lys344=)
|
|
|
NM_002454.3(MTRR):c.1041A>C (p.Ala347=)
|
rs1331838959
|
|
NM_002454.3(MTRR):c.1057+12G>A
|
|
|
NM_002454.3(MTRR):c.1057+17T>C
|
|
|
NM_002454.3(MTRR):c.1057+8C>G
|
rs1325906968
|
|
NM_002454.3(MTRR):c.1057+8C>T
|
|
|
NM_002454.3(MTRR):c.1057+9_1057+16del
|
|
|
NM_002454.3(MTRR):c.1058-5A>C
|
rs2126751043
|
|
NM_002454.3(MTRR):c.1058-8del
|
rs1736476987
|
|
NM_002454.3(MTRR):c.1058-9C>T
|
rs1736476286
|
|
NM_002454.3(MTRR):c.1066T>C (p.Leu356=)
|
rs2126751152
|
|
NM_002454.3(MTRR):c.1071C>T (p.Pro357=)
|
|
|
NM_002454.3(MTRR):c.1074G>A (p.Gln358=)
|
rs1561229685
|
|
NM_002454.3(MTRR):c.1077T>C (p.His359=)
|
|
|
NM_002454.3(MTRR):c.1083T>C (p.Pro361=)
|
rs1405600544
|
|
NM_002454.3(MTRR):c.1089A>G (p.Gly363=)
|
rs1561230017
|
|
NM_002454.3(MTRR):c.108C>T (p.His36=)
|
|
|
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del)
|
rs796052001
|
|
NM_002454.3(MTRR):c.1113C>T (p.Thr371=)
|
|
|
NM_002454.3(MTRR):c.1125A>G (p.Glu375=)
|
rs1425446891
|
|
NM_002454.3(MTRR):c.1140T>C (p.Pro380=)
|
|
|
NM_002454.3(MTRR):c.1146+10dup
|
rs750264866
|
|
NM_002454.3(MTRR):c.1146+13G>T
|
|
|
NM_002454.3(MTRR):c.1146+19T>G
|
|
|
NM_002454.3(MTRR):c.1147-11C>G
|
rs1015760904
|
|
NM_002454.3(MTRR):c.1147-14G>T
|
|
|
NM_002454.3(MTRR):c.1147-15G>T
|
|
|
NM_002454.3(MTRR):c.1147-17C>T
|
|
|
NM_002454.3(MTRR):c.1182C>T (p.Asp394=)
|
|
|
NM_002454.3(MTRR):c.1203A>G (p.Leu401=)
|
rs200661044
|
|
NM_002454.3(MTRR):c.1209G>A (p.Glu403=)
|
rs1324764527
|
|
NM_002454.3(MTRR):c.1212G>T (p.Leu404=)
|
rs2126771253
|
|
NM_002454.3(MTRR):c.1221A>G (p.Lys407=)
|
rs2126771342
|
|
NM_002454.3(MTRR):c.1230A>C (p.Ala410=)
|
rs2126771427
|
|
NM_002454.3(MTRR):c.1233C>G (p.Ala411=)
|
rs752174231
|
|
NM_002454.3(MTRR):c.1233C>T (p.Ala411=)
|
rs752174231
|
|
NM_002454.3(MTRR):c.1248T>C (p.Phe416=)
|
rs886060807
|
|
NM_002454.3(MTRR):c.1251A>C (p.Val417=)
|
|
|
NM_002454.3(MTRR):c.1260C>G (p.Ala420=)
|
rs774102072
|
|
NM_002454.3(MTRR):c.1260C>T (p.Ala420=)
|
rs774102072
|
|
NM_002454.3(MTRR):c.1272G>A (p.Leu424=)
|
|
|
NM_002454.3(MTRR):c.129+10G>C
|
rs6413427
|
|
NM_002454.3(MTRR):c.129+11T>C
|
|
|
NM_002454.3(MTRR):c.129+12T>C
|
|
|
NM_002454.3(MTRR):c.129+13A>T
|
|
|
NM_002454.3(MTRR):c.129+14C>G
|
|
|
NM_002454.3(MTRR):c.129+15A>G
|
|
|
NM_002454.3(MTRR):c.129+20A>C
|
|
|
NM_002454.3(MTRR):c.129+7G>A
|
|
|
NM_002454.3(MTRR):c.129+9C>T
|
rs527869420
|
|
NM_002454.3(MTRR):c.1290T>C (p.Ala430=)
|
rs2126772061
|
|
NM_002454.3(MTRR):c.1293C>T (p.Phe431=)
|
rs766885971
|
|
NM_002454.3(MTRR):c.130-14T>C
|
|
|
NM_002454.3(MTRR):c.130-17A>T
|
|
|
NM_002454.3(MTRR):c.130-18G>A
|
|
|
NM_002454.3(MTRR):c.130-20T>G
|
|
|
NM_002454.3(MTRR):c.130-4G>A
|
rs201823283
|
|
NM_002454.3(MTRR):c.1314C>T (p.Leu438=)
|
|
|
NM_002454.3(MTRR):c.1327+10C>G
|
rs757398819
|
|
NM_002454.3(MTRR):c.1327+10C>T
|
rs757398819
|
|
NM_002454.3(MTRR):c.1327+11G>A
|
|
|
NM_002454.3(MTRR):c.1327+19A>G
|
|
|
NM_002454.3(MTRR):c.1327+20A>G
|
|
|
NM_002454.3(MTRR):c.1327+8G>A
|
|
|
NM_002454.3(MTRR):c.1328-12A>G
|
|
|
NM_002454.3(MTRR):c.1328-13T>A
|
|
|
NM_002454.3(MTRR):c.1328-13T>C
|
|
|
NM_002454.3(MTRR):c.1328-4C>G
|
rs747003266
|
|
NM_002454.3(MTRR):c.1328-4C>T
|
rs747003266
|
|
NM_002454.3(MTRR):c.1328-6T>G
|
|
|
NM_002454.3(MTRR):c.1328-7_1328-5del
|
rs779772153
|
|
NM_002454.3(MTRR):c.1328-8T>C
|
|
|
NM_002454.3(MTRR):c.132T>C (p.Tyr44=)
|
|
|
NM_002454.3(MTRR):c.1350C>T (p.Pro450=)
|
|
|
NM_002454.3(MTRR):c.1356A>G (p.Pro452=)
|
|
|
NM_002454.3(MTRR):c.1368A>G (p.Ala456=)
|
rs2126785758
|
|
NM_002454.3(MTRR):c.1370+12T>C
|
|
|
NM_002454.3(MTRR):c.1370+12del
|
rs1444115346
|
|
NM_002454.3(MTRR):c.1370+20T>A
|
|
|
NM_002454.3(MTRR):c.1370+2TAC[3]
|
|
|
NM_002454.3(MTRR):c.1370+9A>G
|
rs2126785823
|
|
NM_002454.3(MTRR):c.1370+9del
|
|
|
NM_002454.3(MTRR):c.1371-11dup
|
|
|
NM_002454.3(MTRR):c.1371-17T>C
|
|
|
NM_002454.3(MTRR):c.1371-18G>A
|
|
|
NM_002454.3(MTRR):c.1371-4G>T
|
rs2126793044
|
|
NM_002454.3(MTRR):c.1371-8C>G
|
rs2126793017
|
|
NM_002454.3(MTRR):c.1386C>T (p.His462=)
|
|
|
NM_002454.3(MTRR):c.1395G>A (p.Lys465=)
|
rs2126793201
|
|
NM_002454.3(MTRR):c.1425T>C (p.Phe475=)
|
rs1737829430
|
|
NM_002454.3(MTRR):c.1428G>A (p.Leu476=)
|
|
|
NM_002454.3(MTRR):c.1431T>G (p.Ser477=)
|
rs896702427
|
|
NM_002454.3(MTRR):c.1452G>A (p.Leu484=)
|
rs2126793535
|
|
NM_002454.3(MTRR):c.1473C>T (p.Gly491=)
|
|
|
NM_002454.3(MTRR):c.1479G>A (p.Leu493=)
|
|
|
NM_002454.3(MTRR):c.1482C>T (p.Ala494=)
|
rs1579792709
|
|
NM_002454.3(MTRR):c.1488G>A (p.Leu496=)
|
rs1158860588
|
|
NM_002454.3(MTRR):c.1506G>A (p.Gln502=)
|
|
|
NM_002454.3(MTRR):c.1524C>T (p.Ser508=)
|
|
|
NM_002454.3(MTRR):c.1545C>T (p.Ala515=)
|
|
|
NM_002454.3(MTRR):c.1554T>C (p.Pro518=)
|
rs2126794116
|
|
NM_002454.3(MTRR):c.1557+10T>C
|
rs1414777712
|
|
NM_002454.3(MTRR):c.1557+16C>T
|
|
|
NM_002454.3(MTRR):c.1558-12G>A
|
|
|
NM_002454.3(MTRR):c.1558-13T>C
|
|
|
NM_002454.3(MTRR):c.1558-14A>G
|
|
|
NM_002454.3(MTRR):c.1558-15del
|
|
|
NM_002454.3(MTRR):c.1558-17T>C
|
|
|
NM_002454.3(MTRR):c.1558-8T>C
|
rs2126807577
|
|
NM_002454.3(MTRR):c.1560A>C (p.Ile520=)
|
|
|
NM_002454.3(MTRR):c.1566C>A (p.Ile522=)
|
rs1579815027
|
|
NM_002454.3(MTRR):c.1575A>T (p.Arg525=)
|
|
|
NM_002454.3(MTRR):c.1581A>G (p.Thr527=)
|
|
|
NM_002454.3(MTRR):c.1581A>T (p.Thr527=)
|
|
|
NM_002454.3(MTRR):c.1590C>T (p.Phe530=)
|
rs2126807805
|
|
NM_002454.3(MTRR):c.1594T>C (p.Leu532=)
|
rs2126807843
|
|
NM_002454.3(MTRR):c.1596A>G (p.Leu532=)
|
|
|
NM_002454.3(MTRR):c.1599A>G (p.Pro533=)
|
rs2126807880
|
|
NM_002454.3(MTRR):c.159T>C (p.Leu53=)
|
|
|
NM_002454.3(MTRR):c.15G>A (p.Leu5=)
|
rs2126643854
|
|
NM_002454.3(MTRR):c.1608C>T (p.Pro536=)
|
|
|
NM_002454.3(MTRR):c.1614C>T (p.Ile538=)
|
rs2126807956
|
|
NM_002454.3(MTRR):c.1620C>T (p.Ile540=)
|
|
|
NM_002454.3(MTRR):c.162T>C (p.Val54=)
|
rs2126662749
|
|
NM_002454.3(MTRR):c.1632T>C (p.Gly544=)
|
|
|
NM_002454.3(MTRR):c.1644C>T (p.Gly548=)
|
|
|
NM_002454.3(MTRR):c.1650C>T (p.Ala550=)
|
rs2126808168
|
|
NM_002454.3(MTRR):c.165T>C (p.Val55=)
|
|
|
NM_002454.3(MTRR):c.1668A>C (p.Leu556=)
|
|
|
NM_002454.3(MTRR):c.1668A>G (p.Leu556=)
|
|
|
NM_002454.3(MTRR):c.1674T>C (p.His558=)
|
|
|
NM_002454.3(MTRR):c.1676+7T>G
|
|
|
NM_002454.3(MTRR):c.1676+8C>T
|
|
|
NM_002454.3(MTRR):c.1677-11T>C
|
|
|
NM_002454.3(MTRR):c.1677-20C>T
|
|
|
NM_002454.3(MTRR):c.1677-4T>C
|
|
|
NM_002454.3(MTRR):c.1677-7dup
|
|
|
NM_002454.3(MTRR):c.1680G>A (p.Glu560=)
|
rs2126812708
|
|
NM_002454.3(MTRR):c.1686C>T (p.Leu562=)
|
rs909879819
|
|
NM_002454.3(MTRR):c.1698C>T (p.His566=)
|
rs2126812807
|
|
NM_002454.3(MTRR):c.16T>C (p.Leu6=)
|
rs2126643873
|
|
NM_002454.3(MTRR):c.1704T>C (p.Asp568=)
|
rs2126812841
|
|
NM_002454.3(MTRR):c.1716A>C (p.Gly572=)
|
rs755255468
|
|
NM_002454.3(MTRR):c.171T>A (p.Val57=)
|
rs2126662820
|
|
NM_002454.3(MTRR):c.1728G>A (p.Leu576=)
|
|
|
NM_002454.3(MTRR):c.1741A>C (p.Arg581=)
|
rs1738621244
|
|
NM_002454.3(MTRR):c.1749G>A (p.Lys583=)
|
rs1261248965
|
|
NM_002454.3(MTRR):c.1764A>C (p.Leu588=)
|
rs766927577
|
|
NM_002454.3(MTRR):c.1764A>T (p.Leu588=)
|
rs766927577
|
|
NM_002454.3(MTRR):c.1769+10A>T
|
rs1738630744
|
|
NM_002454.3(MTRR):c.1769+11A>G
|
|
|
NM_002454.3(MTRR):c.1769+15C>G
|
|
|
NM_002454.3(MTRR):c.1769+9C>G
|
|
|
NM_002454.3(MTRR):c.1770-12A>G
|
|
|
NM_002454.3(MTRR):c.1770-14A>G
|
|
|
NM_002454.3(MTRR):c.1770-7A>G
|
rs2126813814
|
|
NM_002454.3(MTRR):c.1779C>G (p.Leu593=)
|
|
|
NM_002454.3(MTRR):c.177C>T (p.Thr59=)
|
|
|
NM_002454.3(MTRR):c.1788C>T (p.Phe596=)
|
|
|
NM_002454.3(MTRR):c.1794G>A (p.Lys598=)
|
rs2126814001
|
|
NM_002454.3(MTRR):c.1803C>T (p.Ile601=)
|
rs1448214074
|
|
NM_002454.3(MTRR):c.1804T>C (p.Leu602=)
|
|
|
NM_002454.3(MTRR):c.1809T>C (p.Thr603=)
|
rs1390898831
|
|
NM_002454.3(MTRR):c.1815A>G (p.Leu605=)
|
rs2126814152
|
|
NM_002454.3(MTRR):c.1824C>G (p.Ser608=)
|
|
|
NM_002454.3(MTRR):c.1839T>A (p.Ala613=)
|
rs2126814313
|
|
NM_002454.3(MTRR):c.183C>T (p.Gly61=)
|
|
|
NM_002454.3(MTRR):c.1854G>A (p.Glu618=)
|
rs955857433
|
|
NM_002454.3(MTRR):c.1863A>G (p.Pro621=)
|
|
|
NM_002454.3(MTRR):c.1866A>G (p.Ala622=)
|
|
|
NM_002454.3(MTRR):c.186C>T (p.Thr62=)
|
rs940332374
|
|
NM_002454.3(MTRR):c.1875G>C (p.Val625=)
|
rs12347
|
|
NM_002454.3(MTRR):c.1875G>T (p.Val625=)
|
rs12347
|
|
NM_002454.3(MTRR):c.1878A>G (p.Gln626=)
|
|
|
NM_002454.3(MTRR):c.1884C>T (p.Asn628=)
|
|
|
NM_002454.3(MTRR):c.1887C>A (p.Ile629=)
|
rs2126814585
|
|
NM_002454.3(MTRR):c.1887C>T (p.Ile629=)
|
|
|
NM_002454.3(MTRR):c.1893T>C (p.Leu631=)
|
rs114274194
|
|
NM_002454.3(MTRR):c.1902G>A (p.Gln634=)
|
rs945164864
|
|
NM_002454.3(MTRR):c.1912A>C (p.Arg638=)
|
rs2126814708
|
|
NM_002454.3(MTRR):c.1920C>T (p.Leu640=)
|
|
|
NM_002454.3(MTRR):c.1923C>G (p.Leu641=)
|
rs1738686385
|
|
NM_002454.3(MTRR):c.1923C>T (p.Leu641=)
|
|
|
NM_002454.3(MTRR):c.1929G>A (p.Glu643=)
|
rs1738688155
|
|
NM_002454.3(MTRR):c.1932C>T (p.Asn644=)
|
rs374659219
|
|
NM_002454.3(MTRR):c.1938T>C (p.His646=)
|
rs747850307
|
|
NM_002454.3(MTRR):c.1952+10T>A
|
|
|
NM_002454.3(MTRR):c.1952+10T>C
|
|
|
NM_002454.3(MTRR):c.1952+10_1952+12del
|
rs2126815094
|
|
NM_002454.3(MTRR):c.1952+11A>T
|
|
|
NM_002454.3(MTRR):c.1952+12_1952+16dup
|
|
|
NM_002454.3(MTRR):c.1952+13C>T
|
|
|
NM_002454.3(MTRR):c.1952+17C>A
|
|
|
NM_002454.3(MTRR):c.1952+20A>G
|
|
|
NM_002454.3(MTRR):c.1952+7C>T
|
|
|
NM_002454.3(MTRR):c.1953-14A>G
|
|
|
NM_002454.3(MTRR):c.1953-14_1953-12del
|
|
|
NM_002454.3(MTRR):c.1953-15T>C
|
|
|
NM_002454.3(MTRR):c.1953-16T>C
|
|
|
NM_002454.3(MTRR):c.1953-18T>C
|
|
|
NM_002454.3(MTRR):c.1953-19T>C
|
|
|
NM_002454.3(MTRR):c.1953-20C>T
|
|
|
NM_002454.3(MTRR):c.1953-4C>G
|
|
|
NM_002454.3(MTRR):c.1953-4C>T
|
|
|
NM_002454.3(MTRR):c.1953-9C>A
|
|
|
NM_002454.3(MTRR):c.1956T>C (p.Asp652=)
|
rs765283033
|
|
NM_002454.3(MTRR):c.195A>G (p.Pro65=)
|
rs1166869664
|
|
NM_002454.3(MTRR):c.1962G>A (p.Lys654=)
|
|
|
NM_002454.3(MTRR):c.1971C>T (p.Ala657=)
|
|
|
NM_002454.3(MTRR):c.1983T>C (p.His661=)
|
|
|
NM_002454.3(MTRR):c.1986T>C (p.Asp662=)
|
rs2126829225
|
|
NM_002454.3(MTRR):c.1989C>T (p.Ala663=)
|
rs2126829261
|
|
NM_002454.3(MTRR):c.1998A>G (p.Gln666=)
|
rs767507060
|
|
NM_002454.3(MTRR):c.2001A>T (p.Ile667=)
|
rs1186554585
|
|
NM_002454.3(MTRR):c.2016T>C (p.Val672=)
|
rs1162603124
|
|
NM_002454.3(MTRR):c.2029C>T (p.Leu677=)
|
|
|
NM_002454.3(MTRR):c.2031A>C (p.Leu677=)
|
|
|
NM_002454.3(MTRR):c.2037A>C (p.Ala679=)
|
|
|
NM_002454.3(MTRR):c.2037A>G (p.Ala679=)
|
|
|
NM_002454.3(MTRR):c.2047C>T (p.Leu683=)
|
|
|
NM_002454.3(MTRR):c.2049G>C (p.Leu683=)
|
|
|
NM_002454.3(MTRR):c.204A>G (p.Thr68=)
|
|
|
NM_002454.3(MTRR):c.2079T>G (p.Leu693=)
|
|
|
NM_002454.3(MTRR):c.2088T>A (p.Ile696=)
|
|
|
NM_002454.3(MTRR):c.2088T>C (p.Ile696=)
|
rs2126829944
|
|
NM_002454.3(MTRR):c.2094A>G (p.Ser698=)
|
rs1249803440
|
|
NM_002454.3(MTRR):c.216T>C (p.Phe72=)
|
|
|
NM_002454.3(MTRR):c.234C>T (p.Asn78=)
|
rs757746363
|
|
NM_002454.3(MTRR):c.237A>G (p.Gln79=)
|
|
|
NM_002454.3(MTRR):c.240A>C (p.Thr80=)
|
|
|
NM_002454.3(MTRR):c.240A>G (p.Thr80=)
|
|
|
NM_002454.3(MTRR):c.246G>A (p.Pro82=)
|
rs149300444
|
|
NM_002454.3(MTRR):c.24T>C (p.Tyr8=)
|
rs1747831647
|
|
NM_002454.3(MTRR):c.261T>C (p.Ala87=)
|
rs138167806
|
|
NM_002454.3(MTRR):c.264C>T (p.His88=)
|
rs770540418
|
|
NM_002454.3(MTRR):c.277T>C (p.Leu93=)
|
rs1318273666
|
|
NM_002454.3(MTRR):c.279A>G (p.Leu93=)
|
|
|
NM_002454.3(MTRR):c.283+13C>T
|
|
|
NM_002454.3(MTRR):c.283+15C>G
|
|
|
NM_002454.3(MTRR):c.283+9C>T
|
rs2126663981
|
|
NM_002454.3(MTRR):c.284-17G>A
|
|
|
NM_002454.3(MTRR):c.284-17del
|
|
|
NM_002454.3(MTRR):c.284-18T>C
|
|
|
NM_002454.3(MTRR):c.284-5T>G
|
|
|
NM_002454.3(MTRR):c.284-6C>T
|
|
|
NM_002454.3(MTRR):c.288C>G (p.Leu96=)
|
rs35587995
|
|
NM_002454.3(MTRR):c.309C>T (p.Tyr103=)
|
|
|
NM_002454.3(MTRR):c.312T>C (p.Phe104=)
|
rs1044244393
|
|
NM_002454.3(MTRR):c.318T>C (p.Asn106=)
|
|
|
NM_002454.3(MTRR):c.324G>A (p.Gly108=)
|
|
|
NM_002454.3(MTRR):c.333T>C (p.Ile111=)
|
rs2126675587
|
|
NM_002454.3(MTRR):c.342A>G (p.Arg114=)
|
|
|
NM_002454.3(MTRR):c.345T>G (p.Leu115=)
|
|
|
NM_002454.3(MTRR):c.348A>G (p.Gln116=)
|
|
|
NM_002454.3(MTRR):c.354T>G (p.Leu118=)
|
rs1465852233
|
|
NM_002454.3(MTRR):c.360C>T (p.Ala120=)
|
|
|
NM_002454.3(MTRR):c.369C>T (p.Phe123=)
|
|
|
NM_002454.3(MTRR):c.375C>T (p.Asp125=)
|
rs757292247
|
|
NM_002454.3(MTRR):c.381A>G (p.Gly127=)
|
rs771642983
|
|
NM_002454.3(MTRR):c.393C>T (p.Asp131=)
|
|
|
NM_002454.3(MTRR):c.396T>C (p.Cys132=)
|
|
|
NM_002454.3(MTRR):c.401+12_401+13del
|
|
|
NM_002454.3(MTRR):c.401+14T>A
|
|
|
NM_002454.3(MTRR):c.401+17C>G
|
|
|
NM_002454.3(MTRR):c.401+17C>T
|
|
|
NM_002454.3(MTRR):c.402-18T>C
|
|
|
NM_002454.3(MTRR):c.402-6G>T
|
rs2126692815
|
|
NM_002454.3(MTRR):c.402-6del
|
|
|
NM_002454.3(MTRR):c.414G>A (p.Val138=)
|
|
|
NM_002454.3(MTRR):c.420G>A (p.Glu140=)
|
|
|
NM_002454.3(MTRR):c.423G>C (p.Pro141=)
|
rs753947379
|
|
NM_002454.3(MTRR):c.438C>A (p.Leu146=)
|
|
|
NM_002454.3(MTRR):c.438C>G (p.Leu146=)
|
|
|
NM_002454.3(MTRR):c.438C>T (p.Leu146=)
|
|
|
NM_002454.3(MTRR):c.456G>A (p.Lys152=)
|
rs1734864252
|
|
NM_002454.3(MTRR):c.462T>C (p.Phe154=)
|
rs2126693127
|
|
NM_002454.3(MTRR):c.468A>G (p.Ser156=)
|
|
|
NM_002454.3(MTRR):c.472A>C (p.Arg158=)
|
|
|
NM_002454.3(MTRR):c.477A>C (p.Gly159=)
|
rs1270504511
|
|
NM_002454.3(MTRR):c.483G>A (p.Glu161=)
|
|
|
NM_002454.3(MTRR):c.507G>T (p.Val169=)
|
rs367609729
|
|
NM_002454.3(MTRR):c.516T>C (p.Pro172=)
|
rs1579656831
|
|
NM_002454.3(MTRR):c.516T>G (p.Pro172=)
|
|
|
NM_002454.3(MTRR):c.51C>G (p.Ala17=)
|
|
|
NM_002454.3(MTRR):c.51C>T (p.Ala17=)
|
|
|
NM_002454.3(MTRR):c.525G>A (p.Ser175=)
|
|
|
NM_002454.3(MTRR):c.525G>C (p.Ser175=)
|
|
|
NM_002454.3(MTRR):c.534C>T (p.Asp178=)
|
rs1417585228
|
|
NM_002454.3(MTRR):c.558C>T (p.His186=)
|
|
|
NM_002454.3(MTRR):c.573C>G (p.Val191=)
|
rs777364593
|
|
NM_002454.3(MTRR):c.573C>T (p.Val191=)
|
rs777364593
|
|
NM_002454.3(MTRR):c.579T>C (p.Leu193=)
|
rs2126694174
|
|
NM_002454.3(MTRR):c.57A>C (p.Ala19=)
|
|
|
NM_002454.3(MTRR):c.582G>A (p.Leu194=)
|
|
|
NM_002454.3(MTRR):c.591T>C (p.Asp197=)
|
|
|
NM_002454.3(MTRR):c.606G>A (p.Lys202=)
|
rs368030155
|
|
NM_002454.3(MTRR):c.612T>G (p.Ser204=)
|
rs374670570
|
|
NM_002454.3(MTRR):c.624G>A (p.Lys208=)
|
|
|
NM_002454.3(MTRR):c.630T>C (p.Asn210=)
|
rs2126694596
|
|
NM_002454.3(MTRR):c.636G>A (p.Val212=)
|
rs368140804
|
|
NM_002454.3(MTRR):c.636G>C (p.Val212=)
|
|
|
NM_002454.3(MTRR):c.645C>T (p.Asn215=)
|
rs1734907656
|
|
NM_002454.3(MTRR):c.654T>C (p.Asn218=)
|
rs770060665
|
|
NM_002454.3(MTRR):c.678C>G (p.Ser226=)
|
|
|
NM_002454.3(MTRR):c.678C>T (p.Ser226=)
|
|
|
NM_002454.3(MTRR):c.681A>G (p.Ser227=)
|
rs749515067
|
|
NM_002454.3(MTRR):c.693G>A (p.Ser231=)
|
|
|
NM_002454.3(MTRR):c.693G>C (p.Ser231=)
|
rs775348918
|
|
NM_002454.3(MTRR):c.6G>A (p.Arg2=)
|
rs560321328
|
|
NM_002454.3(MTRR):c.702A>C (p.Pro234=)
|
rs961373750
|
|
NM_002454.3(MTRR):c.702A>G (p.Pro234=)
|
rs961373750
|
|
NM_002454.3(MTRR):c.735A>G (p.Leu245=)
|
rs1343821146
|
|
NM_002454.3(MTRR):c.738C>T (p.Pro246=)
|
|
|
NM_002454.3(MTRR):c.753G>A (p.Gln251=)
|
|
|
NM_002454.3(MTRR):c.75A>G (p.Gln25=)
|
rs1553999358
|
|
NM_002454.3(MTRR):c.762G>A (p.Leu254=)
|
|
|
NM_002454.3(MTRR):c.780+17T>C
|
|
|
NM_002454.3(MTRR):c.780+17T>G
|
|
|
NM_002454.3(MTRR):c.780+19A>G
|
|
|
NM_002454.3(MTRR):c.780+19del
|
|
|
NM_002454.3(MTRR):c.780+8A>G
|
rs1283751633
|
|
NM_002454.3(MTRR):c.781-4C>T
|
rs1057521905
|
|
NM_002454.3(MTRR):c.781-6T>C
|
|
|
NM_002454.3(MTRR):c.781-8T>C
|
|
|
NM_002454.3(MTRR):c.789C>T (p.Ser263=)
|
rs577950573
|
|
NM_002454.3(MTRR):c.816A>G (p.Pro272=)
|
|
|
NM_002454.3(MTRR):c.81G>A (p.Val27=)
|
rs1361273528
|
|
NM_002454.3(MTRR):c.825A>G (p.Gln275=)
|
|
|
NM_002454.3(MTRR):c.849A>G (p.Gln283=)
|
rs1464577162
|
|
NM_002454.3(MTRR):c.858G>A (p.Thr286=)
|
rs762745815
|
|
NM_002454.3(MTRR):c.858G>C (p.Thr286=)
|
rs762745815
|
|
NM_002454.3(MTRR):c.858G>T (p.Thr286=)
|
|
|
NM_002454.3(MTRR):c.867C>G (p.Ala289=)
|
rs1579702611
|
|
NM_002454.3(MTRR):c.867C>T (p.Ala289=)
|
rs1579702611
|
|
NM_002454.3(MTRR):c.873A>G (p.Lys291=)
|
rs2126727889
|
|
NM_002454.3(MTRR):c.87T>C (p.His29=)
|
rs1212726848
|
|
NM_002454.3(MTRR):c.882G>A (p.Leu294=)
|
|
|
NM_002454.3(MTRR):c.892T>C (p.Leu298=)
|
rs758638445
|
|
NM_002454.3(MTRR):c.903+11A>G
|
|
|
NM_002454.3(MTRR):c.903+15T>G
|
|
|
NM_002454.3(MTRR):c.903+17_903+20del
|
|
|
NM_002454.3(MTRR):c.903+7T>C
|
|
|
NM_002454.3(MTRR):c.903+9C>T
|
|
|
NM_002454.3(MTRR):c.904-10T>C
|
|
|
NM_002454.3(MTRR):c.904-12G>T
|
|
|
NM_002454.3(MTRR):c.904-16T>C
|
|
|
NM_002454.3(MTRR):c.904-18A>G
|
|
|
NM_002454.3(MTRR):c.904-19C>T
|
|
|
NM_002454.3(MTRR):c.904-20_904-19insTTC
|
rs1554003809
|
|
NM_002454.3(MTRR):c.904-3dup
|
rs764339809
|
|
NM_002454.3(MTRR):c.904-4C>A
|
|
|
NM_002454.3(MTRR):c.909A>G (p.Thr303=)
|
rs747851597
|
|
NM_002454.3(MTRR):c.915T>C (p.Phe305=)
|
|
|
NM_002454.3(MTRR):c.924G>A (p.Gln308=)
|
|
|
NM_002454.3(MTRR):c.930A>C (p.Gly310=)
|
rs2126744786
|
|
NM_002454.3(MTRR):c.936C>A (p.Ala312=)
|
|
|
NM_002454.3(MTRR):c.936C>G (p.Ala312=)
|
rs777075473
|
|
NM_002454.3(MTRR):c.939C>T (p.Phe313=)
|
rs1475861942
|
|
NM_002454.3(MTRR):c.957C>T (p.Asn319=)
|
rs2126745060
|
|
NM_002454.3(MTRR):c.966T>C (p.Ser322=)
|
|
|
NM_002454.3(MTRR):c.972A>C (p.Val324=)
|
|
|
NM_002454.3(MTRR):c.979C>T (p.Leu327=)
|
rs2126745164
|
|
NM_002454.3(MTRR):c.981A>G (p.Leu327=)
|
|
|
NM_002454.3(MTRR):c.984C>G (p.Leu328=)
|
rs752543039
|
|
NM_002454.3(MTRR):c.984C>T (p.Leu328=)
|
|
|
NM_002454.3(MTRR):c.993G>C (p.Leu331=)
|
rs777698463
|
|
NM_002454.3(MTRR):c.99A>C (p.Ala33=)
|
rs1747850617
|
|
NM_002860.4(ALDH18A1):c.1005G>A (p.Val335=)
|
|
|
NM_002860.4(ALDH18A1):c.1047T>G (p.Val349=)
|
|
|
NM_002860.4(ALDH18A1):c.1071G>A (p.Lys357=)
|
|
|
NM_002860.4(ALDH18A1):c.1078+12_1078+14del
|
|
|
NM_002860.4(ALDH18A1):c.1078+20G>A
|
|
|
NM_002860.4(ALDH18A1):c.1079-11T>C
|
|
|
NM_002860.4(ALDH18A1):c.1079-16G>T
|
|
|
NM_002860.4(ALDH18A1):c.1104A>G (p.Glu368=)
|
|
|
NM_002860.4(ALDH18A1):c.1137C>G (p.Thr379=)
|
|
|
NM_002860.4(ALDH18A1):c.1153-11C>G
|
|
|
NM_002860.4(ALDH18A1):c.1153-6T>C
|
|
|
NM_002860.4(ALDH18A1):c.1153-8_1153-5del
|
|
|
NM_002860.4(ALDH18A1):c.1191G>A (p.Thr397=)
|
|
|
NM_002860.4(ALDH18A1):c.1246+15A>G
|
|
|
NM_002860.4(ALDH18A1):c.1247-16C>G
|
|
|
NM_002860.4(ALDH18A1):c.1247-17T>A
|
rs1208309079
|
|
NM_002860.4(ALDH18A1):c.1275T>C (p.Arg425=)
|
|
|
NM_002860.4(ALDH18A1):c.1290A>C (p.Thr430=)
|
|
|
NM_002860.4(ALDH18A1):c.1350C>T (p.Ser450=)
|
|
|
NM_002860.4(ALDH18A1):c.1370G>T (p.Arg457Leu)
|
rs570730665
|
|
NM_002860.4(ALDH18A1):c.1371C>T (p.Arg457=)
|
|
|
NM_002860.4(ALDH18A1):c.141G>A (p.Pro47=)
|
|
|
NM_002860.4(ALDH18A1):c.141G>T (p.Pro47=)
|
rs748824728
|
|
NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=)
|
rs1374293487
|
|
NM_002860.4(ALDH18A1):c.1503G>A (p.Leu501=)
|
rs77717600
|
|
NM_002860.4(ALDH18A1):c.1506A>G (p.Leu502=)
|
|
|
NM_002860.4(ALDH18A1):c.1524G>A (p.Glu508=)
|
|
|
NM_002860.4(ALDH18A1):c.1551C>T (p.His517=)
|
|
|
NM_002860.4(ALDH18A1):c.1576A>G (p.Ile526Val)
|
|
|
NM_002860.4(ALDH18A1):c.1605+11G>C
|
|
|
NM_002860.4(ALDH18A1):c.1605+16T>C
|
|
|
NM_002860.4(ALDH18A1):c.1606-13T>C
|
|
|
NM_002860.4(ALDH18A1):c.1606-15T>C
|
rs2139542064
|
|
NM_002860.4(ALDH18A1):c.1606-19_1606-15del
|
|
|
NM_002860.4(ALDH18A1):c.1606-7T>C
|
|
|
NM_002860.4(ALDH18A1):c.1624G>A (p.Val542Ile)
|
rs552325165
|
|
NM_002860.4(ALDH18A1):c.1737C>T (p.His579=)
|
|
|
NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=)
|
rs139035272
|
|
NM_002860.4(ALDH18A1):c.1801+10A>G
|
|
|
NM_002860.4(ALDH18A1):c.1802-20C>A
|
|
|
NM_002860.4(ALDH18A1):c.1802-20C>G
|
|
|
NM_002860.4(ALDH18A1):c.1923+13T>C
|
|
|
NM_002860.4(ALDH18A1):c.2007G>A (p.Gly669=)
|
|
|
NM_002860.4(ALDH18A1):c.2028A>G (p.Glu676=)
|
rs1327684346
|
|
NM_002860.4(ALDH18A1):c.2064C>T (p.Ile688=)
|
|
|
NM_002860.4(ALDH18A1):c.2085C>T (p.His695=)
|
|
|
NM_002860.4(ALDH18A1):c.2088G>A (p.Thr696=)
|
|
|
NM_002860.4(ALDH18A1):c.2097C>T (p.Ile699=)
|
|
|
NM_002860.4(ALDH18A1):c.2110+10C>T
|
|
|
NM_002860.4(ALDH18A1):c.2111-12_2111-10del
|
|
|
NM_002860.4(ALDH18A1):c.2111-14T>C
|
|
|
NM_002860.4(ALDH18A1):c.2111-5T>C
|
|
|
NM_002860.4(ALDH18A1):c.2111-7C>A
|
rs542177817
|
|
NM_002860.4(ALDH18A1):c.2139C>T (p.His713=)
|
|
|
NM_002860.4(ALDH18A1):c.2148T>C (p.Ser716=)
|
|
|
NM_002860.4(ALDH18A1):c.2207-14A>T
|
|
|
NM_002860.4(ALDH18A1):c.2232G>C (p.Ser744=)
|
rs148601288
|
|
NM_002860.4(ALDH18A1):c.2241C>T (p.His747=)
|
|
|
NM_002860.4(ALDH18A1):c.2277T>C (p.Thr759=)
|
|
|
NM_002860.4(ALDH18A1):c.2307C>T (p.His769=)
|
|
|
NM_002860.4(ALDH18A1):c.2370T>G (p.Pro790=)
|
|
|
NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=)
|
rs537733180
|
|
NM_002860.4(ALDH18A1):c.279G>A (p.Gly93=)
|
|
|
NM_002860.4(ALDH18A1):c.303+10A>T
|
|
|
NM_002860.4(ALDH18A1):c.303+12G>A
|
|
|
NM_002860.4(ALDH18A1):c.303+15A>G
|
|
|
NM_002860.4(ALDH18A1):c.303+4_303+7dup
|
rs772902503
|
|
NM_002860.4(ALDH18A1):c.304-3del
|
|
|
NM_002860.4(ALDH18A1):c.357C>G (p.Ala119=)
|
rs767594147
|
|
NM_002860.4(ALDH18A1):c.366T>C (p.Phe122=)
|
rs2139622090
|
|
NM_002860.4(ALDH18A1):c.42C>T (p.Asn14=)
|
|
|
NM_002860.4(ALDH18A1):c.475C>A (p.Arg159=)
|
|
|
NM_002860.4(ALDH18A1):c.522G>A (p.Glu174=)
|
rs1240158166
|
|
NM_002860.4(ALDH18A1):c.555C>G (p.Ala185=)
|
|
|
NM_002860.4(ALDH18A1):c.558+18G>T
|
rs2139620979
|
|
NM_002860.4(ALDH18A1):c.559-12T>C
|
|
|
NM_002860.4(ALDH18A1):c.642C>T (p.Asn214=)
|
rs1589534526
|
|
NM_002860.4(ALDH18A1):c.648C>A (p.Val216=)
|
|
|
NM_002860.4(ALDH18A1):c.678C>A (p.Val226=)
|
|
|
NM_002860.4(ALDH18A1):c.687T>C (p.Ala229=)
|
|
|
NM_002860.4(ALDH18A1):c.717+13T>C
|
|
|
NM_002860.4(ALDH18A1):c.718-20C>T
|
rs1488774481
|
|
NM_002860.4(ALDH18A1):c.718-7A>C
|
rs1230591674
|
|
NM_002860.4(ALDH18A1):c.809-15_809-14del
|
|
|
NM_002860.4(ALDH18A1):c.809-18C>T
|
rs778442273
|
|
NM_002860.4(ALDH18A1):c.809-8T>C
|
rs1405015772
|
|
NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=)
|
rs752470665
|
|
NM_002860.4(ALDH18A1):c.867C>T (p.Pro289=)
|
|
|
NM_002860.4(ALDH18A1):c.88+13G>C
|
|
|
NM_002860.4(ALDH18A1):c.89-9T>C
|
|
|
NM_002860.4(ALDH18A1):c.945C>A (p.Ala315=)
|
|
|
NM_002860.4(ALDH18A1):c.945C>T (p.Ala315=)
|
rs566528582
|
|
NM_003042.4(SLC6A1):c.1000G>T (p.Ala334Ser)
|
rs749240316
|
|
NM_003042.4(SLC6A1):c.1009G>A (p.Val337Ile)
|
|
|
NM_003042.4(SLC6A1):c.1050G>A (p.Lys350=)
|
|
|
NM_003042.4(SLC6A1):c.1050G>C (p.Lys350Asn)
|
|
|
NM_003042.4(SLC6A1):c.1079-12T>G
|
|
|
NM_003042.4(SLC6A1):c.1079-15C>T
|
|
|
NM_003042.4(SLC6A1):c.1079-6G>A
|
rs779733732
|
|
NM_003042.4(SLC6A1):c.1080C>T (p.Gly360=)
|
rs1697747513
|
|
NM_003042.4(SLC6A1):c.1092G>C (p.Ala364=)
|
rs199998696
|
|
NM_003042.4(SLC6A1):c.109_110delinsGC (p.Lys37Ala)
|
rs1697191777
|
|
NM_003042.4(SLC6A1):c.1131C>A (p.Ile377=)
|
|
|
NM_003042.4(SLC6A1):c.1140C>T (p.Leu380=)
|
|
|
NM_003042.4(SLC6A1):c.114G>C (p.Ala38=)
|
rs139224269
|
|
NM_003042.4(SLC6A1):c.1152C>T (p.Leu384=)
|
rs759942621
|
|
NM_003042.4(SLC6A1):c.1159_1161del (p.Ser387del)
|
|
|
NM_003042.4(SLC6A1):c.1191+10C>A
|
|
|
NM_003042.4(SLC6A1):c.1191+11C>G
|
|
|
NM_003042.4(SLC6A1):c.1191+13C>A
|
rs780177003
|
|
NM_003042.4(SLC6A1):c.1191+13C>T
|
rs780177003
|
|
NM_003042.4(SLC6A1):c.1191+15C>A
|
rs781558890
|
|
NM_003042.4(SLC6A1):c.1191+15C>G
|
rs781558890
|
|
NM_003042.4(SLC6A1):c.1191+17C>A
|
|
|
NM_003042.4(SLC6A1):c.1191+17C>G
|
rs538418973
|
|
NM_003042.4(SLC6A1):c.1191+17C>T
|
rs538418973
|
|
NM_003042.4(SLC6A1):c.1191+9G>A
|
rs761322748
|
|
NM_003042.4(SLC6A1):c.1191+9G>C
|
rs761322748
|
|
NM_003042.4(SLC6A1):c.1191+9G>T
|
rs761322748
|
|
NM_003042.4(SLC6A1):c.1191+9del
|
|
|
NM_003042.4(SLC6A1):c.1192-18C>A
|
|
|
NM_003042.4(SLC6A1):c.1192-5T>C
|
|
|
NM_003042.4(SLC6A1):c.1192-6del
|
rs765936552
|
|
NM_003042.4(SLC6A1):c.1221C>T (p.Ala407=)
|
|
|
NM_003042.4(SLC6A1):c.1224G>C (p.Leu408=)
|
|
|
NM_003042.4(SLC6A1):c.1233G>A (p.Glu411=)
|
|
|
NM_003042.4(SLC6A1):c.1234T>C (p.Tyr412His)
|
rs2124931904
|
|
NM_003042.4(SLC6A1):c.1236C>T (p.Tyr412=)
|
rs549028843
|
|
NM_003042.4(SLC6A1):c.1239C>T (p.Pro413=)
|
rs2124931931
|
|
NM_003042.4(SLC6A1):c.1248C>A (p.Leu416=)
|
rs1553690572
|
|
NM_003042.4(SLC6A1):c.1266C>T (p.Leu422=)
|
|
|
NM_003042.4(SLC6A1):c.126C>G (p.Pro42=)
|
|
|
NM_003042.4(SLC6A1):c.127G>A (p.Asp43Asn)
|
rs764382700
|
|
NM_003042.4(SLC6A1):c.1297C>T (p.Leu433=)
|
|
|
NM_003042.4(SLC6A1):c.1302C>T (p.Ile434=)
|
rs200670508
|
|
NM_003042.4(SLC6A1):c.1323+11T>C
|
|
|
NM_003042.4(SLC6A1):c.1324-15C>T
|
|
|
NM_003042.4(SLC6A1):c.1324-4G>C
|
|
|
NM_003042.4(SLC6A1):c.1324-7C>T
|
rs780416796
|
|
NM_003042.4(SLC6A1):c.1326G>A (p.Gly442=)
|
|
|
NM_003042.4(SLC6A1):c.1326G>C (p.Gly442=)
|
|
|
NM_003042.4(SLC6A1):c.1359C>T (p.Tyr453=)
|
|
|
NM_003042.4(SLC6A1):c.135C>T (p.Asp45=)
|
|
|
NM_003042.4(SLC6A1):c.1368T>C (p.Ser456=)
|
rs2124936859
|
|
NM_003042.4(SLC6A1):c.137C>T (p.Thr46Met)
|
rs762550927
|
|
NM_003042.4(SLC6A1):c.1380G>A (p.Leu460=)
|
|
|
NM_003042.4(SLC6A1):c.1383G>A (p.Leu461=)
|
|
|
NM_003042.4(SLC6A1):c.138G>C (p.Thr46=)
|
|
|
NM_003042.4(SLC6A1):c.138G>T (p.Thr46=)
|
|
|
NM_003042.4(SLC6A1):c.1390G>A (p.Val464Met)
|
|
|
NM_003042.4(SLC6A1):c.1391T>A (p.Val464Glu)
|
rs1697894833
|
|
NM_003042.4(SLC6A1):c.1395C>T (p.Phe465=)
|
rs2124936955
|
|
NM_003042.4(SLC6A1):c.1401A>G (p.Glu467=)
|
|
|
NM_003042.4(SLC6A1):c.1426+17C>T
|
|
|
NM_003042.4(SLC6A1):c.1427-10_1427-7del
|
|
|
NM_003042.4(SLC6A1):c.1427-11C>A
|
|
|
NM_003042.4(SLC6A1):c.1427-15C>T
|
|
|
NM_003042.4(SLC6A1):c.1427-18C>A
|
|
|
NM_003042.4(SLC6A1):c.1427-18C>G
|
|
|
NM_003042.4(SLC6A1):c.1427-4del
|
|
|
NM_003042.4(SLC6A1):c.1427-8T>C
|
rs753100039
|
|
NM_003042.4(SLC6A1):c.1442A>T (p.Tyr481Phe)
|
|
|
NM_003042.4(SLC6A1):c.1443T>C (p.Tyr481=)
|
rs1574922500
|
|
NM_003042.4(SLC6A1):c.144G>A (p.Lys48=)
|
|
|
NM_003042.4(SLC6A1):c.1494C>T (p.Leu498=)
|
rs2124942591
|
|
NM_003042.4(SLC6A1):c.1512A>G (p.Thr504=)
|
rs2124942636
|
|
NM_003042.4(SLC6A1):c.1517T>C (p.Ile506Thr)
|
|
|
NM_003042.4(SLC6A1):c.1520T>C (p.Ile507Thr)
|
rs1574922686
|
|
NM_003042.4(SLC6A1):c.1527+12G>T
|
|
|
NM_003042.4(SLC6A1):c.1527+7A>G
|
|
|
NM_003042.4(SLC6A1):c.1527+8C>A
|
|
|
NM_003042.4(SLC6A1):c.1528-14T>A
|
|
|
NM_003042.4(SLC6A1):c.1528-14T>C
|
|
|
NM_003042.4(SLC6A1):c.1528-16C>T
|
rs1402116303
|
|
NM_003042.4(SLC6A1):c.1528-8C>A
|
rs1348558990
|
|
NM_003042.4(SLC6A1):c.1533G>A (p.Val511=)
|
rs1276757037
|
|
NM_003042.4(SLC6A1):c.1578C>T (p.Asn526=)
|
rs1698067347
|
|
NM_003042.4(SLC6A1):c.159C>T (p.Phe53=)
|
|
|
NM_003042.4(SLC6A1):c.1608G>A (p.Val536=)
|
|
|
NM_003042.4(SLC6A1):c.160C>T (p.Leu54Phe)
|
|
|
NM_003042.4(SLC6A1):c.162C>G (p.Leu54=)
|
rs752627902
|
|
NM_003042.4(SLC6A1):c.1644C>T (p.Ile548=)
|
rs200481115
|
|
NM_003042.4(SLC6A1):c.1647C>G (p.Pro549=)
|
rs2272401
|
|
NM_003042.4(SLC6A1):c.1650G>A (p.Gly550=)
|
rs1175292635
|
|
NM_003042.4(SLC6A1):c.1652A>G (p.Tyr551Cys)
|
rs2124944638
|
|
NM_003042.4(SLC6A1):c.1662C>T (p.Tyr554=)
|
|
|
NM_003042.4(SLC6A1):c.1673C>A (p.Thr558Asn)
|
|
|
NM_003042.4(SLC6A1):c.1686C>T (p.Ser562=)
|
rs1698071519
|
|
NM_003042.4(SLC6A1):c.1695+13C>G
|
|
|
NM_003042.4(SLC6A1):c.1695+16C>T
|
|
|
NM_003042.4(SLC6A1):c.1696-12C>G
|
rs773131260
|
|
NM_003042.4(SLC6A1):c.1696-12C>T
|
|
|
NM_003042.4(SLC6A1):c.1697G>A (p.Arg566His)
|
rs767142926
|
|
NM_003042.4(SLC6A1):c.1711G>A (p.Val571Ile)
|
|
|
NM_003042.4(SLC6A1):c.1717C>T (p.Pro573Ser)
|
rs760120415
|
|
NM_003042.4(SLC6A1):c.1722C>G (p.Ser574Arg)
|
rs145387062
|
|
NM_003042.4(SLC6A1):c.1735C>T (p.Arg579Cys)
|
|
|
NM_003042.4(SLC6A1):c.1740A>G (p.Pro580=)
|
|
|
NM_003042.4(SLC6A1):c.1746T>C (p.Asn582=)
|
rs2124949321
|
|
NM_003042.4(SLC6A1):c.1749T>C (p.Gly583=)
|
|
|
NM_003042.4(SLC6A1):c.1752T>C (p.Pro584=)
|
|
|
NM_003042.4(SLC6A1):c.1776C>T (p.Ser592=)
|
|
|
NM_003042.4(SLC6A1):c.1797C>A (p.Ile599=)
|
rs1698168556
|
|
NM_003042.4(SLC6A1):c.190C>T (p.Leu64=)
|
|
|
NM_003042.4(SLC6A1):c.201C>T (p.Val67=)
|
rs1574891179
|
|
NM_003042.4(SLC6A1):c.238+15G>A
|
|
|
NM_003042.4(SLC6A1):c.238+18G>T
|
|
|
NM_003042.4(SLC6A1):c.238+7G>A
|
rs2124905739
|
|
NM_003042.4(SLC6A1):c.238+9T>C
|
rs2124905757
|
|
NM_003042.4(SLC6A1):c.239-6C>T
|
rs1270790611
|
|
NM_003042.4(SLC6A1):c.27C>T (p.Ala9=)
|
rs985468330
|
|
NM_003042.4(SLC6A1):c.300G>A (p.Leu100=)
|
|
|
NM_003042.4(SLC6A1):c.309C>T (p.Ser103=)
|
|
|
NM_003042.4(SLC6A1):c.323C>A (p.Thr108Asn)
|
|
|
NM_003042.4(SLC6A1):c.342G>T (p.Gly114=)
|
|
|
NM_003042.4(SLC6A1):c.354G>A (p.Leu118=)
|
rs1029839205
|
|
NM_003042.4(SLC6A1):c.354G>T (p.Leu118=)
|
rs1029839205
|
|
NM_003042.4(SLC6A1):c.360T>C (p.Pro120=)
|
rs776026803
|
|
NM_003042.4(SLC6A1):c.366C>T (p.Phe122=)
|
rs1697225966
|
|
NM_003042.4(SLC6A1):c.370+15C>T
|
|
|
NM_003042.4(SLC6A1):c.370+16A>G
|
|
|
NM_003042.4(SLC6A1):c.370+17G>A
|
|
|
NM_003042.4(SLC6A1):c.370+18G>A
|
|
|
NM_003042.4(SLC6A1):c.370+18G>C
|
|
|
NM_003042.4(SLC6A1):c.371-16dup
|
|
|
NM_003042.4(SLC6A1):c.371-5C>G
|
|
|
NM_003042.4(SLC6A1):c.372C>T (p.Gly124=)
|
|
|
NM_003042.4(SLC6A1):c.423C>T (p.Ile141=)
|
|
|
NM_003042.4(SLC6A1):c.471+11C>A
|
|
|
NM_003042.4(SLC6A1):c.471+14T>A
|
|
|
NM_003042.4(SLC6A1):c.471+8G>T
|
|
|
NM_003042.4(SLC6A1):c.472-10G>T
|
|
|
NM_003042.4(SLC6A1):c.472-10_472-9del
|
|
|
NM_003042.4(SLC6A1):c.472-5T>C
|
rs1574896904
|
|
NM_003042.4(SLC6A1):c.472-8C>T
|
|
|
NM_003042.4(SLC6A1):c.480G>A (p.Pro160=)
|
|
|
NM_003042.4(SLC6A1):c.549C>T (p.Thr183=)
|
|
|
NM_003042.4(SLC6A1):c.561C>T (p.Ser187=)
|
rs1553688537
|
|
NM_003042.4(SLC6A1):c.570G>A (p.Val190=)
|
|
|
NM_003042.4(SLC6A1):c.581+18A>C
|
rs2124912794
|
|
NM_003042.4(SLC6A1):c.582-10G>C
|
rs746794580
|
|
NM_003042.4(SLC6A1):c.582-10G>T
|
rs746794580
|
|
NM_003042.4(SLC6A1):c.582-9_582-6del
|
rs2124917521
|
|
NM_003042.4(SLC6A1):c.5C>A (p.Ala2Glu)
|
rs913073947
|
|
NM_003042.4(SLC6A1):c.5C>T (p.Ala2Val)
|
|
|
NM_003042.4(SLC6A1):c.606C>T (p.Asp202=)
|
|
|
NM_003042.4(SLC6A1):c.618G>A (p.Lys206=)
|
rs761767066
|
|
NM_003042.4(SLC6A1):c.658A>G (p.Ile220Val)
|
rs754749693
|
|
NM_003042.4(SLC6A1):c.676T>C (p.Tyr226His)
|
|
|
NM_003042.4(SLC6A1):c.684T>C (p.Cys228=)
|
rs1697443650
|
|
NM_003042.4(SLC6A1):c.69C>T (p.Ala23=)
|
|
|
NM_003042.4(SLC6A1):c.700G>A (p.Gly234Ser)
|
rs2124917991
|
|
NM_003042.4(SLC6A1):c.714+17C>T
|
|
|
NM_003042.4(SLC6A1):c.714+18A>G
|
|
|
NM_003042.4(SLC6A1):c.720C>T (p.Val240=)
|
rs2124924042
|
|
NM_003042.4(SLC6A1):c.732C>T (p.Ala244=)
|
|
|
NM_003042.4(SLC6A1):c.735A>T (p.Thr245=)
|
|
|
NM_003042.4(SLC6A1):c.747C>A (p.Ile249=)
|
rs1052037726
|
|
NM_003042.4(SLC6A1):c.762G>A (p.Leu254=)
|
rs1574906506
|
|
NM_003042.4(SLC6A1):c.784C>T (p.Pro262Ser)
|
rs1574906592
|
|
NM_003042.4(SLC6A1):c.789G>T (p.Gly263=)
|
rs772195247
|
|
NM_003042.4(SLC6A1):c.804C>T (p.Ile268=)
|
|
|
NM_003042.4(SLC6A1):c.829C>A (p.Arg277Ser)
|
rs377383740
|
|
NM_003042.4(SLC6A1):c.831C>T (p.Arg277=)
|
|
|
NM_003042.4(SLC6A1):c.837G>A (p.Leu279=)
|
|
|
NM_003042.4(SLC6A1):c.849+10C>T
|
rs2124924582
|
|
NM_003042.4(SLC6A1):c.849+8C>A
|
rs1298534380
|
|
NM_003042.4(SLC6A1):c.850-7C>T
|
|
|
NM_003042.4(SLC6A1):c.856C>T (p.Leu286=)
|
|
|
NM_003042.4(SLC6A1):c.885A>C (p.Ser295=)
|
rs563719346
|
|
NM_003042.4(SLC6A1):c.891G>C (p.Gly297=)
|
rs151039956
|
|
NM_003042.4(SLC6A1):c.903G>C (p.Gly301=)
|
rs756380074
|
|
NM_003042.4(SLC6A1):c.903G>T (p.Gly301=)
|
rs756380074
|
|
NM_003042.4(SLC6A1):c.906C>A (p.Ser302=)
|
rs1239880200
|
|
NM_003042.4(SLC6A1):c.945T>C (p.Asn315=)
|
|
|
NM_003042.4(SLC6A1):c.953+12_953+22del
|
|
|
NM_003042.4(SLC6A1):c.953+13A>C
|
|
|
NM_003042.4(SLC6A1):c.953+20G>A
|
|
|
NM_003042.4(SLC6A1):c.953+9G>A
|
rs761823218
|
|
NM_003042.4(SLC6A1):c.954-10C>G
|
|
|
NM_003042.4(SLC6A1):c.954-15C>T
|
|
|
NM_003042.4(SLC6A1):c.954-17C>A
|
|
|
NM_003042.4(SLC6A1):c.954-17C>T
|
|
|
NM_003042.4(SLC6A1):c.954-6C>G
|
|
|
NM_003042.4(SLC6A1):c.954-8C>G
|
|
|
NM_003042.4(SLC6A1):c.954-9T>A
|
|
|
NM_003042.4(SLC6A1):c.961A>G (p.Ile321Val)
|
|
|
NM_003042.4(SLC6A1):c.984G>A (p.Ser328=)
|
rs748162040
|
|
NM_003042.4(SLC6A1):c.984G>C (p.Ser328=)
|
rs748162040
|
|
NM_003042.4(SLC6A1):c.9C>A (p.Thr3=)
|
|
|
NM_003060.4(SLC22A5):c.1011C>T (p.Thr337=)
|
|
|
NM_003060.4(SLC22A5):c.1023G>A (p.Arg341=)
|
|
|
NM_003060.4(SLC22A5):c.1035C>T (p.Ile345=)
|
rs780982778
|
|
NM_003060.4(SLC22A5):c.1041C>T (p.Ser347=)
|
|
|
NM_003060.4(SLC22A5):c.1050G>A (p.Leu350=)
|
|
|
NM_003060.4(SLC22A5):c.1052+10A>G
|
|
|
NM_003060.4(SLC22A5):c.1052+11G>T
|
|
|
NM_003060.4(SLC22A5):c.1053-12A>G
|
|
|
NM_003060.4(SLC22A5):c.1053-13_1053-7del
|
|
|
NM_003060.4(SLC22A5):c.1053-16C>A
|
|
|
NM_003060.4(SLC22A5):c.1053-17T>C
|
|
|
NM_003060.4(SLC22A5):c.1053-17T>G
|
|
|
NM_003060.4(SLC22A5):c.1053-19C>T
|
|
|
NM_003060.4(SLC22A5):c.1053-20T>C
|
|
|
NM_003060.4(SLC22A5):c.1053-7G>A
|
rs747417349
|
|
NM_003060.4(SLC22A5):c.1053-7G>T
|
|
|
NM_003060.4(SLC22A5):c.1053-7_1053-6del
|
|
|
NM_003060.4(SLC22A5):c.1080G>C (p.Gly360=)
|
rs139508856
|
|
NM_003060.4(SLC22A5):c.1080G>T (p.Gly360=)
|
rs139508856
|
|
NM_003060.4(SLC22A5):c.108C>T (p.Gly36=)
|
|
|
NM_003060.4(SLC22A5):c.1107T>C (p.His369=)
|
rs1580892312
|
|
NM_003060.4(SLC22A5):c.111G>A (p.Leu37=)
|
|
|
NM_003060.4(SLC22A5):c.1131C>T (p.Phe377=)
|
rs2126789694
|
|
NM_003060.4(SLC22A5):c.1140G>C (p.Ala380=)
|
|
|
NM_003060.4(SLC22A5):c.1146T>C (p.Val382=)
|
rs1405950971
|
|
NM_003060.4(SLC22A5):c.1146T>G (p.Val382=)
|
|
|
NM_003060.4(SLC22A5):c.1149A>G (p.Glu383=)
|
rs1450996221
|
|
NM_003060.4(SLC22A5):c.114C>G (p.Ser38=)
|
rs756867867
|
|
NM_003060.4(SLC22A5):c.1152C>T (p.Val384=)
|
|
|
NM_003060.4(SLC22A5):c.1155A>G (p.Pro385=)
|
|
|
NM_003060.4(SLC22A5):c.1158A>G (p.Ala386=)
|
|
|
NM_003060.4(SLC22A5):c.1164G>A (p.Val388=)
|
rs1752671285
|
|
NM_003060.4(SLC22A5):c.1170C>G (p.Ala390=)
|
rs774368158
|
|
NM_003060.4(SLC22A5):c.1182G>A (p.Leu394=)
|
rs2126789783
|
|
NM_003060.4(SLC22A5):c.120G>A (p.Val40=)
|
|
|
NM_003060.4(SLC22A5):c.1212C>T (p.Ala404=)
|
|
|
NM_003060.4(SLC22A5):c.1218C>T (p.Ala406=)
|
|
|
NM_003060.4(SLC22A5):c.1225C>T (p.Leu409=)
|
|
|
NM_003060.4(SLC22A5):c.1227G>T (p.Leu409=)
|
|
|
NM_003060.4(SLC22A5):c.1239C>T (p.Val413=)
|
|
|
NM_003060.4(SLC22A5):c.1242T>C (p.Leu414=)
|
|
|
NM_003060.4(SLC22A5):c.1255C>T (p.Leu419=)
|
rs780591287
|
|
NM_003060.4(SLC22A5):c.1267+12G>A
|
|
|
NM_003060.4(SLC22A5):c.1267+14G>C
|
|
|
NM_003060.4(SLC22A5):c.1267+16A>C
|
rs2126789947
|
|
NM_003060.4(SLC22A5):c.1267+9C>T
|
|
|
NM_003060.4(SLC22A5):c.1268-15C>A
|
|
|
NM_003060.4(SLC22A5):c.1268-16del
|
|
|
NM_003060.4(SLC22A5):c.1268-19C>T
|
|
|
NM_003060.4(SLC22A5):c.1268-4C>T
|
rs2126791278
|
|
NM_003060.4(SLC22A5):c.1268-9C>A
|
|
|
NM_003060.4(SLC22A5):c.1268-9C>T
|
rs1183308619
|
|
NM_003060.4(SLC22A5):c.126G>T (p.Leu42=)
|
rs2126764965
|
|
NM_003060.4(SLC22A5):c.1290C>T (p.Val430=)
|
|
|
NM_003060.4(SLC22A5):c.1293G>A (p.Leu431=)
|
rs1580894161
|
|
NM_003060.4(SLC22A5):c.1296G>A (p.Val432=)
|
|
|
NM_003060.4(SLC22A5):c.1323T>C (p.Ala441=)
|
|
|
NM_003060.4(SLC22A5):c.1326C>T (p.Ala442=)
|
|
|
NM_003060.4(SLC22A5):c.132G>A (p.Ala44=)
|
|
|
NM_003060.4(SLC22A5):c.132G>C (p.Ala44=)
|
|
|
NM_003060.4(SLC22A5):c.1350A>G (p.Thr450=)
|
rs1752737905
|
|
NM_003060.4(SLC22A5):c.1357C>T (p.Leu453=)
|
rs1752738264
|
|
NM_003060.4(SLC22A5):c.135C>A (p.Thr45=)
|
rs202000855
|
|
NM_003060.4(SLC22A5):c.135C>T (p.Thr45=)
|
rs202000855
|
|
NM_003060.4(SLC22A5):c.1386T>C (p.Gly462=)
|
rs757611449
|
|
NM_003060.4(SLC22A5):c.138G>A (p.Pro46=)
|
rs895093633
|
|
NM_003060.4(SLC22A5):c.1392A>G (p.Gly464=)
|
|
|
NM_003060.4(SLC22A5):c.1401C>T (p.Ser467=)
|
rs1449055165
|
|
NM_003060.4(SLC22A5):c.1419C>A (p.Gly473=)
|
rs1752741619
|
|
NM_003060.4(SLC22A5):c.141G>A (p.Glu47=)
|
|
|
NM_003060.4(SLC22A5):c.1425C>T (p.Ile475=)
|
|
|
NM_003060.4(SLC22A5):c.1428G>A (p.Leu476=)
|
|
|
NM_003060.4(SLC22A5):c.1437C>T (p.Tyr479=)
|
rs761305616
|
|
NM_003060.4(SLC22A5):c.1446C>T (p.Tyr482=)
|
|
|
NM_003060.4(SLC22A5):c.1450+20G>A
|
|
|
NM_003060.4(SLC22A5):c.1450+7C>T
|
|
|
NM_003060.4(SLC22A5):c.1450+8C>A
|
rs1261757663
|
|
NM_003060.4(SLC22A5):c.1450+8C>G
|
|
|
NM_003060.4(SLC22A5):c.1451-10T>G
|
rs2126792599
|
|
NM_003060.4(SLC22A5):c.1451-11C>G
|
|
|
NM_003060.4(SLC22A5):c.1451-18C>G
|
|
|
NM_003060.4(SLC22A5):c.1451-4A>G
|
|
|
NM_003060.4(SLC22A5):c.1451-5C>T
|
|
|
NM_003060.4(SLC22A5):c.1452T>G (p.Gly484=)
|
rs2126792615
|
|
NM_003060.4(SLC22A5):c.1461C>T (p.Asp487=)
|
|
|
NM_003060.4(SLC22A5):c.1467C>T (p.Phe489=)
|
|
|
NM_003060.4(SLC22A5):c.1482C>T (p.Leu494=)
|
rs771112492
|
|
NM_003060.4(SLC22A5):c.1494G>A (p.Leu498=)
|
rs2126792684
|
|
NM_003060.4(SLC22A5):c.1497C>G (p.Thr499=)
|
|
|
NM_003060.4(SLC22A5):c.1500C>A (p.Ile500=)
|
rs1182348785
|
|
NM_003060.4(SLC22A5):c.1501C>T (p.Leu501=)
|
rs1476878301
|
|
NM_003060.4(SLC22A5):c.1506A>G (p.Thr502=)
|
rs2126792698
|
|
NM_003060.4(SLC22A5):c.1512C>T (p.Ile504=)
|
rs2126792708
|
|
NM_003060.4(SLC22A5):c.1521G>A (p.Leu507=)
|
rs778716973
|
|
NM_003060.4(SLC22A5):c.1527C>A (p.Leu509=)
|
|
|
NM_003060.4(SLC22A5):c.1533G>A (p.Glu511=)
|
rs748111365
|
|
NM_003060.4(SLC22A5):c.1536C>T (p.Ser512=)
|
|
|
NM_003060.4(SLC22A5):c.153G>C (p.Arg51=)
|
|
|
NM_003060.4(SLC22A5):c.153G>T (p.Arg51=)
|
rs1330041441
|
|
NM_003060.4(SLC22A5):c.1551C>G (p.Leu517=)
|
rs763424726
|
|
NM_003060.4(SLC22A5):c.1554A>G (p.Pro518=)
|
|
|
NM_003060.4(SLC22A5):c.1566C>T (p.Asp522=)
|
|
|
NM_003060.4(SLC22A5):c.1569G>A (p.Gln523=)
|
rs1462008023
|
|
NM_003060.4(SLC22A5):c.1581C>G (p.Val527=)
|
|
|
NM_003060.4(SLC22A5):c.1586+11C>T
|
|
|
NM_003060.4(SLC22A5):c.1586+12T>C
|
|
|
NM_003060.4(SLC22A5):c.1586+13C>T
|
rs2126792892
|
|
NM_003060.4(SLC22A5):c.1586+14_1586+16del
|
|
|
NM_003060.4(SLC22A5):c.1586+15T>C
|
|
|
NM_003060.4(SLC22A5):c.1586+19T>C
|
|
|
NM_003060.4(SLC22A5):c.1586+9A>C
|
rs1554088592
|
|
NM_003060.4(SLC22A5):c.1587-11del
|
|
|
NM_003060.4(SLC22A5):c.1587-12T>C
|
|
|
NM_003060.4(SLC22A5):c.1587-13C>T
|
|
|
NM_003060.4(SLC22A5):c.1587-14G>C
|
|
|
NM_003060.4(SLC22A5):c.1587-18T>G
|
|
|
NM_003060.4(SLC22A5):c.1587-4A>G
|
|
|
NM_003060.4(SLC22A5):c.1587-6T>C
|
|
|
NM_003060.4(SLC22A5):c.1587-7T>A
|
|
|
NM_003060.4(SLC22A5):c.1587-8T>G
|
|
|
NM_003060.4(SLC22A5):c.1596C>T (p.His532=)
|
rs1752802142
|
|
NM_003060.4(SLC22A5):c.1605T>G (p.Thr535=)
|
rs2126793211
|
|
NM_003060.4(SLC22A5):c.1614C>T (p.His538=)
|
|
|
NM_003060.4(SLC22A5):c.1620G>A (p.Arg540=)
|
rs2126793240
|
|
NM_003060.4(SLC22A5):c.1624T>C (p.Leu542=)
|
rs2126793254
|
|
NM_003060.4(SLC22A5):c.162C>T (p.Asp54=)
|
|
|
NM_003060.4(SLC22A5):c.1632T>C (p.Asp544=)
|
|
|
NM_003060.4(SLC22A5):c.1638A>G (p.Gln546=)
|
|
|
NM_003060.4(SLC22A5):c.1644G>A (p.Arg548=)
|
rs2126793283
|
|
NM_003060.4(SLC22A5):c.1653C>T (p.Ile551=)
|
rs1429160208
|
|
NM_003060.4(SLC22A5):c.165C>T (p.Ala55=)
|
|
|
NM_003060.4(SLC22A5):c.1662C>T (p.Ser554=)
|
|
|
NM_003060.4(SLC22A5):c.1665A>T (p.Thr555=)
|
rs1161715534
|
|
NM_003060.4(SLC22A5):c.1671C>T (p.Phe557=)
|
rs2126793329
|
|
NM_003060.4(SLC22A5):c.183C>T (p.Ala61=)
|
rs1226557478
|
|
NM_003060.4(SLC22A5):c.195C>T (p.His65=)
|
rs1751841574
|
|
NM_003060.4(SLC22A5):c.198T>C (p.Thr66=)
|
rs2126765172
|
|
NM_003060.4(SLC22A5):c.201C>A (p.Val67=)
|
|
|
NM_003060.4(SLC22A5):c.204A>G (p.Pro68=)
|
|
|
NM_003060.4(SLC22A5):c.205C>T (p.Leu69=)
|
rs1751843098
|
|
NM_003060.4(SLC22A5):c.211C>T (p.Leu71=)
|
rs977811294
|
|
NM_003060.4(SLC22A5):c.21G>T (p.Val7=)
|
|
|
NM_003060.4(SLC22A5):c.228G>A (p.Glu76=)
|
|
|
NM_003060.4(SLC22A5):c.243C>T (p.Cys81=)
|
|
|
NM_003060.4(SLC22A5):c.252C>T (p.Tyr84=)
|
rs1253026669
|
|
NM_003060.4(SLC22A5):c.258C>T (p.Leu86=)
|
rs1364454011
|
|
NM_003060.4(SLC22A5):c.264C>T (p.Thr88=)
|
|
|
NM_003060.4(SLC22A5):c.267C>T (p.Ile89=)
|
rs2126765387
|
|
NM_003060.4(SLC22A5):c.270C>T (p.Ala90=)
|
|
|
NM_003060.4(SLC22A5):c.279G>T (p.Ser93=)
|
|
|
NM_003060.4(SLC22A5):c.27C>T (p.Ala9=)
|
|
|
NM_003060.4(SLC22A5):c.285T>G (p.Leu95=)
|
|
|
NM_003060.4(SLC22A5):c.300G>C (p.Gly100=)
|
|
|
NM_003060.4(SLC22A5):c.313C>T (p.Leu105=)
|
rs1239293137
|
|
NM_003060.4(SLC22A5):c.31C>T (p.Leu11=)
|
|
|
NM_003060.4(SLC22A5):c.330G>A (p.Gln110=)
|
|
|
NM_003060.4(SLC22A5):c.333G>A (p.Glu111=)
|
rs1253086449
|
|
NM_003060.4(SLC22A5):c.342G>A (p.Leu114=)
|
|
|
NM_003060.4(SLC22A5):c.345T>C (p.Asp115=)
|
|
|
NM_003060.4(SLC22A5):c.354G>A (p.Glu118=)
|
|
|
NM_003060.4(SLC22A5):c.357C>T (p.Phe119=)
|
|
|
NM_003060.4(SLC22A5):c.360T>C (p.Ser120=)
|
rs1580868397
|
|
NM_003060.4(SLC22A5):c.363G>A (p.Gln121=)
|
rs758991830
|
|
NM_003060.4(SLC22A5):c.366C>T (p.Asp122=)
|
|
|
NM_003060.4(SLC22A5):c.36C>T (p.Gly12=)
|
|
|
NM_003060.4(SLC22A5):c.372C>T (p.Tyr124=)
|
|
|
NM_003060.4(SLC22A5):c.373C>T (p.Leu125=)
|
|
|
NM_003060.4(SLC22A5):c.378C>T (p.Ser126=)
|
rs2126765624
|
|
NM_003060.4(SLC22A5):c.381C>T (p.Thr127=)
|
rs1007882103
|
|
NM_003060.4(SLC22A5):c.384T>C (p.Ile128=)
|
|
|
NM_003060.4(SLC22A5):c.387G>C (p.Val129=)
|
rs1018330141
|
|
NM_003060.4(SLC22A5):c.390C>T (p.Thr130=)
|
|
|
NM_003060.4(SLC22A5):c.393+12C>T
|
|
|
NM_003060.4(SLC22A5):c.393+15C>T
|
|
|
NM_003060.4(SLC22A5):c.393+17G>T
|
|
|
NM_003060.4(SLC22A5):c.393+7G>T
|
rs2126765681
|
|
NM_003060.4(SLC22A5):c.393+9C>T
|
rs1751861935
|
|
NM_003060.4(SLC22A5):c.394-11T>C
|
|
|
NM_003060.4(SLC22A5):c.394-11T>G
|
|
|
NM_003060.4(SLC22A5):c.394-12C>T
|
|
|
NM_003060.4(SLC22A5):c.394-15T>G
|
|
|
NM_003060.4(SLC22A5):c.394-18C>G
|
rs200136788
|
|
NM_003060.4(SLC22A5):c.394-9A>G
|
|
|
NM_003060.4(SLC22A5):c.39G>A (p.Glu13=)
|
|
|
NM_003060.4(SLC22A5):c.402G>A (p.Leu134=)
|
rs2126775629
|
|
NM_003060.4(SLC22A5):c.402G>C (p.Leu134=)
|
rs2126775629
|
|
NM_003060.4(SLC22A5):c.426C>G (p.Ala142=)
|
|
|
NM_003060.4(SLC22A5):c.432C>G (p.Leu144=)
|
rs2126775698
|
|
NM_003060.4(SLC22A5):c.435A>G (p.Thr145=)
|
rs1752226152
|
|
NM_003060.4(SLC22A5):c.438C>T (p.Ile146=)
|
|
|
NM_003060.4(SLC22A5):c.442T>C (p.Leu148=)
|
rs2126775720
|
|
NM_003060.4(SLC22A5):c.453G>C (p.Val151=)
|
|
|
NM_003060.4(SLC22A5):c.453G>T (p.Val151=)
|
|
|
NM_003060.4(SLC22A5):c.45G>C (p.Gly15=)
|
|
|
NM_003060.4(SLC22A5):c.462G>C (p.Leu154=)
|
rs771808266
|
|
NM_003060.4(SLC22A5):c.468C>T (p.Gly156=)
|
rs1413484773
|
|
NM_003060.4(SLC22A5):c.480A>G (p.Ser160=)
|
|
|
NM_003060.4(SLC22A5):c.489G>A (p.Leu163=)
|
rs2126775815
|
|
NM_003060.4(SLC22A5):c.497+10C>T
|
rs1019521695
|
|
NM_003060.4(SLC22A5):c.497+11T>C
|
rs2126775852
|
|
NM_003060.4(SLC22A5):c.497+12G>A
|
|
|
NM_003060.4(SLC22A5):c.497+19G>C
|
|
|
NM_003060.4(SLC22A5):c.497+7T>C
|
|
|
NM_003060.4(SLC22A5):c.497+8G>A
|
|
|
NM_003060.4(SLC22A5):c.497+9T>A
|
|
|
NM_003060.4(SLC22A5):c.498-4C>T
|
|
|
NM_003060.4(SLC22A5):c.498-6T>C
|
rs2126782125
|
|
NM_003060.4(SLC22A5):c.4C>A (p.Arg2=)
|
|
|
NM_003060.4(SLC22A5):c.517C>T (p.Leu173=)
|
|
|
NM_003060.4(SLC22A5):c.528C>G (p.Thr176=)
|
|
|
NM_003060.4(SLC22A5):c.528C>T (p.Thr176=)
|
rs1752442501
|
|
NM_003060.4(SLC22A5):c.549C>T (p.Phe183=)
|
|
|
NM_003060.4(SLC22A5):c.556C>T (p.Leu186=)
|
rs569496252
|
|
NM_003060.4(SLC22A5):c.561G>A (p.Gln187=)
|
|
|
NM_003060.4(SLC22A5):c.564C>A (p.Ile188=)
|
rs2126782265
|
|
NM_003060.4(SLC22A5):c.576T>C (p.Asn192=)
|
|
|
NM_003060.4(SLC22A5):c.600T>C (p.Phe200=)
|
rs2126782358
|
|
NM_003060.4(SLC22A5):c.606T>C (p.Leu202=)
|
rs2126782367
|
|
NM_003060.4(SLC22A5):c.618C>T (p.Gly206=)
|
rs1752448479
|
|
NM_003060.4(SLC22A5):c.636G>A (p.Val212=)
|
|
|
NM_003060.4(SLC22A5):c.642A>G (p.Ala214=)
|
rs2126782462
|
|
NM_003060.4(SLC22A5):c.652+11C>G
|
rs916434461
|
|
NM_003060.4(SLC22A5):c.652+18G>A
|
|
|
NM_003060.4(SLC22A5):c.652+9A>T
|
rs2126782491
|
|
NM_003060.4(SLC22A5):c.653-10T>A
|
rs765335540
|
|
NM_003060.4(SLC22A5):c.653-10T>C
|
rs765335540
|
|
NM_003060.4(SLC22A5):c.653-18C>T
|
|
|
NM_003060.4(SLC22A5):c.653-7T>C
|
|
|
NM_003060.4(SLC22A5):c.663T>C (p.Ile221=)
|
|
|
NM_003060.4(SLC22A5):c.666T>A (p.Leu222=)
|
|
|
NM_003060.4(SLC22A5):c.66C>T (p.Phe22=)
|
|
|
NM_003060.4(SLC22A5):c.672G>A (p.Lys224=)
|
rs2126783589
|
|
NM_003060.4(SLC22A5):c.675A>C (p.Ser225=)
|
|
|
NM_003060.4(SLC22A5):c.696G>T (p.Thr232=)
|
rs748677211
|
|
NM_003060.4(SLC22A5):c.70C>T (p.Leu24=)
|
|
|
NM_003060.4(SLC22A5):c.720A>G (p.Ala240=)
|
|
|
NM_003060.4(SLC22A5):c.729C>T (p.Tyr243=)
|
rs2126783776
|
|
NM_003060.4(SLC22A5):c.72G>C (p.Leu24=)
|
rs1225763110
|
|
NM_003060.4(SLC22A5):c.744G>A (p.Leu248=)
|
rs1483552442
|
|
NM_003060.4(SLC22A5):c.750T>G (p.Ala250=)
|
rs1561571523
|
|
NM_003060.4(SLC22A5):c.756C>T (p.Phe252=)
|
rs2126783846
|
|
NM_003060.4(SLC22A5):c.765C>T (p.Asp255=)
|
|
|
NM_003060.4(SLC22A5):c.771G>T (p.Arg257=)
|
|
|
NM_003060.4(SLC22A5):c.783G>A (p.Val261=)
|
rs1449646556
|
|
NM_003060.4(SLC22A5):c.804G>A (p.Val268=)
|
rs2126784022
|
|
NM_003060.4(SLC22A5):c.804G>T (p.Val268=)
|
|
|
NM_003060.4(SLC22A5):c.805C>T (p.Leu269=)
|
rs2126784023
|
|
NM_003060.4(SLC22A5):c.816A>C (p.Ala272=)
|
|
|
NM_003060.4(SLC22A5):c.819C>G (p.Leu273=)
|
rs1752497453
|
|
NM_003060.4(SLC22A5):c.81C>T (p.Ala27=)
|
|
|
NM_003060.4(SLC22A5):c.824+11C>A
|
rs758784226
|
|
NM_003060.4(SLC22A5):c.824+12C>T
|
|
|
NM_003060.4(SLC22A5):c.824+14T>C
|
|
|
NM_003060.4(SLC22A5):c.824+15G>A
|
|
|
NM_003060.4(SLC22A5):c.824+16T>C
|
|
|
NM_003060.4(SLC22A5):c.824+7G>A
|
|
|
NM_003060.4(SLC22A5):c.824+8T>A
|
|
|
NM_003060.4(SLC22A5):c.824+8T>C
|
rs2126784090
|
|
NM_003060.4(SLC22A5):c.824+8T>G
|
rs2126784090
|
|
NM_003060.4(SLC22A5):c.824+9G>C
|
rs2126784095
|
|
NM_003060.4(SLC22A5):c.825-14C>A
|
|
|
NM_003060.4(SLC22A5):c.825-18T>C
|
|
|
NM_003060.4(SLC22A5):c.825-19T>C
|
|
|
NM_003060.4(SLC22A5):c.825-5G>A
|
rs2126785864
|
|
NM_003060.4(SLC22A5):c.825-6T>C
|
rs1343850918
|
|
NM_003060.4(SLC22A5):c.825-8A>G
|
|
|
NM_003060.4(SLC22A5):c.825-8A>T
|
rs1752553633
|
|
NM_003060.4(SLC22A5):c.831C>T (p.Ile277=)
|
|
|
NM_003060.4(SLC22A5):c.840C>A (p.Ser280=)
|
|
|
NM_003060.4(SLC22A5):c.840C>T (p.Ser280=)
|
rs1282015269
|
|
NM_003060.4(SLC22A5):c.843C>G (p.Pro281=)
|
rs764544978
|
|
NM_003060.4(SLC22A5):c.864A>G (p.Gly288=)
|
rs1416528354
|
|
NM_003060.4(SLC22A5):c.865C>A (p.Arg289=)
|
|
|
NM_003060.4(SLC22A5):c.87C>A (p.Ile29=)
|
|
|
NM_003060.4(SLC22A5):c.891C>A (p.Ile297=)
|
rs2126786094
|
|
NM_003060.4(SLC22A5):c.894C>T (p.Arg298=)
|
|
|
NM_003060.4(SLC22A5):c.897G>A (p.Lys299=)
|
|
|
NM_003060.4(SLC22A5):c.903C>T (p.Ala301=)
|
rs772101972
|
|
NM_003060.4(SLC22A5):c.90C>T (p.Ile30=)
|
|
|
NM_003060.4(SLC22A5):c.912T>C (p.Asn304=)
|
|
|
NM_003060.4(SLC22A5):c.924G>A (p.Val308=)
|
rs2126786151
|
|
NM_003060.4(SLC22A5):c.930C>T (p.Ser310=)
|
|
|
NM_003060.4(SLC22A5):c.933T>C (p.Thr311=)
|
rs2126786173
|
|
NM_003060.4(SLC22A5):c.945G>T (p.Pro315=)
|
rs764733247
|
|
NM_003060.4(SLC22A5):c.951+10A>G
|
|
|
NM_003060.4(SLC22A5):c.951+10A>T
|
rs1752561409
|
|
NM_003060.4(SLC22A5):c.951+11T>C
|
|
|
NM_003060.4(SLC22A5):c.951+13T>G
|
rs1348881586
|
|
NM_003060.4(SLC22A5):c.951+14G>A
|
|
|
NM_003060.4(SLC22A5):c.951+15G>C
|
|
|
NM_003060.4(SLC22A5):c.951+18G>T
|
|
|
NM_003060.4(SLC22A5):c.951+20G>T
|
rs1405777934
|
|
NM_003060.4(SLC22A5):c.951+7A>C
|
|
|
NM_003060.4(SLC22A5):c.951+9C>T
|
|
|
NM_003060.4(SLC22A5):c.952-10G>A
|
|
|
NM_003060.4(SLC22A5):c.952-10_952-8del
|
|
|
NM_003060.4(SLC22A5):c.952-13G>A
|
|
|
NM_003060.4(SLC22A5):c.952-15_952-14insCGTATGA
|
|
|
NM_003060.4(SLC22A5):c.952-17T>C
|
|
|
NM_003060.4(SLC22A5):c.952-19T>C
|
|
|
NM_003060.4(SLC22A5):c.961C>T (p.Leu321=)
|
|
|
NM_003748.4(ALDH4A1):c.1005G>C (p.Gly335=)
|
rs751507625
|
|
NM_003748.4(ALDH4A1):c.1005G>T (p.Gly335=)
|
|
|
NM_003748.4(ALDH4A1):c.1023C>T (p.Phe341=)
|
rs769491686
|
|
NM_003748.4(ALDH4A1):c.1053C>T (p.Cys351=)
|
rs1934758933
|
|
NM_003748.4(ALDH4A1):c.105G>A (p.Glu35=)
|
|
|
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=)
|
rs41310410
|
|
NM_003748.4(ALDH4A1):c.1137+13G>A
|
|
|
NM_003748.4(ALDH4A1):c.1239C>T (p.Leu413=)
|
|
|
NM_003748.4(ALDH4A1):c.123G>A (p.Thr41=)
|
|
|
NM_003748.4(ALDH4A1):c.1281C>T (p.Tyr427=)
|
|
|
NM_003748.4(ALDH4A1):c.1299C>T (p.Ile433=)
|
|
|
NM_003748.4(ALDH4A1):c.1338+19C>T
|
|
|
NM_003748.4(ALDH4A1):c.1338+7G>A
|
rs2100555545
|
|
NM_003748.4(ALDH4A1):c.1339-12C>T
|
|
|
NM_003748.4(ALDH4A1):c.1368C>T (p.Tyr456=)
|
|
|
NM_003748.4(ALDH4A1):c.1460+15C>T
|
rs371777923
|
|
NM_003748.4(ALDH4A1):c.1460+16G>C
|
|
|
NM_003748.4(ALDH4A1):c.1461-12T>C
|
rs2100551089
|
|
NM_003748.4(ALDH4A1):c.1464C>T (p.Asp488=)
|
|
|
NM_003748.4(ALDH4A1):c.1479C>T (p.Ala493=)
|
|
|
NM_003748.4(ALDH4A1):c.1503C>T (p.Ala501=)
|
|
|
NM_003748.4(ALDH4A1):c.1551G>A (p.Gln517=)
|
|
|
NM_003748.4(ALDH4A1):c.1563G>C (p.Gly521=)
|
|
|
NM_003748.4(ALDH4A1):c.1580-16del
|
rs767610565
|
|
NM_003748.4(ALDH4A1):c.1602C>T (p.Gly534=)
|
|
|
NM_003748.4(ALDH4A1):c.1641C>T (p.Ile547=)
|
|
|
NM_003748.4(ALDH4A1):c.1674C>T (p.Ser558=)
|
|
|
NM_003748.4(ALDH4A1):c.385C>T (p.Leu129=)
|
rs1371117699
|
|
NM_003748.4(ALDH4A1):c.42C>G (p.Ser14=)
|
|
|
NM_003748.4(ALDH4A1):c.453+16G>C
|
|
|
NM_003748.4(ALDH4A1):c.454-17G>A
|
|
|
NM_003748.4(ALDH4A1):c.561C>T (p.Ser187=)
|
|
|
NM_003748.4(ALDH4A1):c.604-18C>T
|
|
|
NM_003748.4(ALDH4A1):c.615G>C (p.Ala205=)
|
|
|
NM_003748.4(ALDH4A1):c.645C>T (p.Ile215=)
|
|
|
NM_003748.4(ALDH4A1):c.684C>T (p.Asn228=)
|
|
|
NM_003748.4(ALDH4A1):c.693A>G (p.Leu231=)
|
rs775893554
|
|
NM_003748.4(ALDH4A1):c.699G>A (p.Lys233=)
|
rs1474346608
|
|
NM_003748.4(ALDH4A1):c.828A>T (p.Ser276=)
|
|
|
NM_003748.4(ALDH4A1):c.88C>T (p.Leu30=)
|
|
|
NM_003748.4(ALDH4A1):c.903C>T (p.Asn301=)
|
|
|
NM_003748.4(ALDH4A1):c.940+16C>T
|
|
|
NM_003982.4(SLC7A7):c.1008T>C (p.Phe336=)
|
rs753178470
|
|
NM_003982.4(SLC7A7):c.1029T>C (p.His343=)
|
rs1177228884
|
|
NM_003982.4(SLC7A7):c.1032C>T (p.Leu344=)
|
rs2139387119
|
|
NM_003982.4(SLC7A7):c.1041C>A (p.Ala347=)
|
rs2139387078
|
|
NM_003982.4(SLC7A7):c.1041C>T (p.Ala347=)
|
rs2139387078
|
|
NM_003982.4(SLC7A7):c.1047C>T (p.Cys349=)
|
|
|
NM_003982.4(SLC7A7):c.1063C>A (p.Arg355=)
|
|
|
NM_003982.4(SLC7A7):c.1086G>C (p.Leu362=)
|
|
|
NM_003982.4(SLC7A7):c.1089C>G (p.Leu363=)
|
|
|
NM_003982.4(SLC7A7):c.1095+13A>T
|
|
|
NM_003982.4(SLC7A7):c.1095+14A>G
|
rs2139386863
|
|
NM_003982.4(SLC7A7):c.1095+15G>C
|
|
|
NM_003982.4(SLC7A7):c.1095+20A>T
|
|
|
NM_003982.4(SLC7A7):c.1095+20del
|
|
|
NM_003982.4(SLC7A7):c.1095+6T>C
|
rs531862402
|
|
NM_003982.4(SLC7A7):c.1095+7G>C
|
|
|
NM_003982.4(SLC7A7):c.1095+9A>C
|
|
|
NM_003982.4(SLC7A7):c.1096-14G>A
|
|
|
NM_003982.4(SLC7A7):c.1096-17T>C
|
|
|
NM_003982.4(SLC7A7):c.1096-18T>C
|
rs2139384926
|
|
NM_003982.4(SLC7A7):c.1096-19C>G
|
rs1325229919
|
|
NM_003982.4(SLC7A7):c.1096-6_1096-5dup
|
rs1416844530
|
|
NM_003982.4(SLC7A7):c.1096-8G>C
|
rs1378166336
|
|
NM_003982.4(SLC7A7):c.1098T>C (p.Gly366=)
|
|
|
NM_003982.4(SLC7A7):c.1107A>G (p.Ala369=)
|
|
|
NM_003982.4(SLC7A7):c.1110G>A (p.Leu370=)
|
rs1267303478
|
|
NM_003982.4(SLC7A7):c.1113C>A (p.Ile371=)
|
|
|
NM_003982.4(SLC7A7):c.1116C>T (p.Tyr372=)
|
rs773357652
|
|
NM_003982.4(SLC7A7):c.111C>T (p.Ile37=)
|
|
|
NM_003982.4(SLC7A7):c.1134C>A (p.Ile378=)
|
|
|
NM_003982.4(SLC7A7):c.1134C>T (p.Ile378=)
|
rs1594943327
|
|
NM_003982.4(SLC7A7):c.1137C>T (p.Phe379=)
|
|
|
NM_003982.4(SLC7A7):c.1140G>A (p.Gln380=)
|
|
|
NM_003982.4(SLC7A7):c.114A>G (p.Ser38=)
|
rs2138663780
|
|
NM_003982.4(SLC7A7):c.1155C>T (p.Tyr385=)
|
rs2139384560
|
|
NM_003982.4(SLC7A7):c.115C>T (p.Leu39=)
|
|
|
NM_003982.4(SLC7A7):c.117G>A (p.Leu39=)
|
rs2039350455
|
|
NM_003982.4(SLC7A7):c.1200G>A (p.Gln400=)
|
|
|
NM_003982.4(SLC7A7):c.1203T>G (p.Leu401=)
|
rs2139384424
|
|
NM_003982.4(SLC7A7):c.1206T>C (p.Tyr402=)
|
|
|
NM_003982.4(SLC7A7):c.1207C>T (p.Leu403=)
|
rs2139384413
|
|
NM_003982.4(SLC7A7):c.1221G>A (p.Glu407=)
|
rs2139384350
|
|
NM_003982.4(SLC7A7):c.1224T>G (p.Pro408=)
|
|
|
NM_003982.4(SLC7A7):c.1239C>G (p.Pro413=)
|
rs2139384237
|
|
NM_003982.4(SLC7A7):c.1245+17C>A
|
|
|
NM_003982.4(SLC7A7):c.1245+9A>G
|
|
|
NM_003982.4(SLC7A7):c.1246-13C>T
|
rs2038543431
|
|
NM_003982.4(SLC7A7):c.1246-16T>C
|
|
|
NM_003982.4(SLC7A7):c.1246-18T>C
|
|
|
NM_003982.4(SLC7A7):c.1246-19_1246-18del
|
|
|
NM_003982.4(SLC7A7):c.1246-6C>T
|
rs1343994057
|
|
NM_003982.4(SLC7A7):c.1246-7C>T
|
rs370138050
|
|
NM_003982.4(SLC7A7):c.1248C>G (p.Leu416=)
|
rs1266932567
|
|
NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=)
|
rs1043886041
|
|
NM_003982.4(SLC7A7):c.1266T>C (p.Ile422=)
|
rs1594942768
|
|
NM_003982.4(SLC7A7):c.1269C>T (p.Val423=)
|
rs2038541659
|
|
NM_003982.4(SLC7A7):c.1275C>T (p.Cys425=)
|
rs2139383501
|
|
NM_003982.4(SLC7A7):c.1287C>A (p.Ile429=)
|
rs2139383446
|
|
NM_003982.4(SLC7A7):c.1290C>T (p.Phe430=)
|
rs368164901
|
|
NM_003982.4(SLC7A7):c.129G>A (p.Val43=)
|
rs2138663660
|
|
NM_003982.4(SLC7A7):c.1305A>G (p.Pro435=)
|
rs1594942680
|
|
NM_003982.4(SLC7A7):c.1311C>T (p.Tyr437=)
|
|
|
NM_003982.4(SLC7A7):c.1320T>C (p.Thr440=)
|
rs2139383353
|
|
NM_003982.4(SLC7A7):c.1323C>T (p.Ile441=)
|
|
|
NM_003982.4(SLC7A7):c.1332C>T (p.Leu444=)
|
|
|
NM_003982.4(SLC7A7):c.1341T>C (p.Ile447=)
|
|
|
NM_003982.4(SLC7A7):c.1344C>T (p.Ala448=)
|
rs2139383219
|
|
NM_003982.4(SLC7A7):c.1350C>A (p.Ala450=)
|
|
|
NM_003982.4(SLC7A7):c.1350C>T (p.Ala450=)
|
rs2139383184
|
|
NM_003982.4(SLC7A7):c.1353C>G (p.Leu451=)
|
|
|
NM_003982.4(SLC7A7):c.1360C>T (p.Leu454=)
|
rs1594942552
|
|
NM_003982.4(SLC7A7):c.1362G>A (p.Leu454=)
|
|
|
NM_003982.4(SLC7A7):c.1374C>T (p.Phe458=)
|
rs1594942519
|
|
NM_003982.4(SLC7A7):c.1380C>T (p.Ile460=)
|
rs139415285
|
|
NM_003982.4(SLC7A7):c.1389G>A (p.Val463=)
|
|
|
NM_003982.4(SLC7A7):c.1392A>C (p.Pro464=)
|
|
|
NM_003982.4(SLC7A7):c.1392A>G (p.Pro464=)
|
|
|
NM_003982.4(SLC7A7):c.1419A>T (p.Arg473=)
|
|
|
NM_003982.4(SLC7A7):c.141G>C (p.Val47=)
|
|
|
NM_003982.4(SLC7A7):c.1429+10G>A
|
|
|
NM_003982.4(SLC7A7):c.1429+11C>T
|
|
|
NM_003982.4(SLC7A7):c.1429+12A>C
|
|
|
NM_003982.4(SLC7A7):c.1429+15C>A
|
|
|
NM_003982.4(SLC7A7):c.1429+15_1429+17del
|
|
|
NM_003982.4(SLC7A7):c.1429+18A>C
|
rs2139382797
|
|
NM_003982.4(SLC7A7):c.1429+19A>G
|
|
|
NM_003982.4(SLC7A7):c.1429+8G>C
|
rs201766738
|
|
NM_003982.4(SLC7A7):c.1429+9T>C
|
rs2139382831
|
|
NM_003982.4(SLC7A7):c.1430-14dup
|
rs775214548
|
|
NM_003982.4(SLC7A7):c.1430-18T>C
|
rs745832658
|
|
NM_003982.4(SLC7A7):c.1430-8C>A
|
|
|
NM_003982.4(SLC7A7):c.1443G>A (p.Arg481=)
|
|
|
NM_003982.4(SLC7A7):c.1449C>T (p.Leu483=)
|
rs760963199
|
|
NM_003982.4(SLC7A7):c.144G>C (p.Gly48=)
|
rs1298784269
|
|
NM_003982.4(SLC7A7):c.1458G>A (p.Leu486=)
|
|
|
NM_003982.4(SLC7A7):c.1458G>C (p.Leu486=)
|
rs1343227478
|
|
NM_003982.4(SLC7A7):c.1461T>C (p.Cys487=)
|
|
|
NM_003982.4(SLC7A7):c.1467A>T (p.Ser489=)
|
rs2139382160
|
|
NM_003982.4(SLC7A7):c.1476A>G (p.Ala492=)
|
rs1188919066
|
|
NM_003982.4(SLC7A7):c.1515A>G (p.Gln505=)
|
rs2139381985
|
|
NM_003982.4(SLC7A7):c.1516C>A (p.Arg506=)
|
rs138506427
|
|
NM_003982.4(SLC7A7):c.1521T>C (p.Asp507=)
|
|
|
NM_003982.4(SLC7A7):c.1524C>G (p.Pro508=)
|
rs2139381941
|
|
NM_003982.4(SLC7A7):c.1533C>T (p.Asn511=)
|
|
|
NM_003982.4(SLC7A7):c.165C>T (p.Ile55=)
|
rs2138663461
|
|
NM_003982.4(SLC7A7):c.168T>C (p.Phe56=)
|
|
|
NM_003982.4(SLC7A7):c.171T>G (p.Val57=)
|
|
|
NM_003982.4(SLC7A7):c.18G>A (p.Glu6=)
|
|
|
NM_003982.4(SLC7A7):c.192A>C (p.Ile64=)
|
|
|
NM_003982.4(SLC7A7):c.201C>G (p.Ala67=)
|
rs1253918930
|
|
NM_003982.4(SLC7A7):c.213C>G (p.Leu71=)
|
|
|
NM_003982.4(SLC7A7):c.216T>C (p.Ser72=)
|
|
|
NM_003982.4(SLC7A7):c.217C>T (p.Leu73=)
|
rs2138663228
|
|
NM_003982.4(SLC7A7):c.237G>A (p.Gly79=)
|
rs1271709166
|
|
NM_003982.4(SLC7A7):c.249C>G (p.Ser83=)
|
|
|
NM_003982.4(SLC7A7):c.267T>C (p.Cys89=)
|
rs1160975991
|
|
NM_003982.4(SLC7A7):c.27G>A (p.Val9=)
|
|
|
NM_003982.4(SLC7A7):c.285C>T (p.Thr95=)
|
|
|
NM_003982.4(SLC7A7):c.297A>G (p.Lys99=)
|
rs761270703
|
|
NM_003982.4(SLC7A7):c.30C>T (p.Ala10=)
|
|
|
NM_003982.4(SLC7A7):c.321C>A (p.Ile107=)
|
rs1267133279
|
|
NM_003982.4(SLC7A7):c.321C>T (p.Ile107=)
|
rs1267133279
|
|
NM_003982.4(SLC7A7):c.330C>T (p.Ala110=)
|
|
|
NM_003982.4(SLC7A7):c.345T>C (p.Leu115=)
|
rs2039343008
|
|
NM_003982.4(SLC7A7):c.366C>T (p.Thr122=)
|
|
|
NM_003982.4(SLC7A7):c.369C>G (p.Ser123=)
|
|
|
NM_003982.4(SLC7A7):c.369C>T (p.Ser123=)
|
|
|
NM_003982.4(SLC7A7):c.375C>G (p.Leu125=)
|
rs199724860
|
|
NM_003982.4(SLC7A7):c.390C>G (p.Thr130=)
|
rs1473768240
|
|
NM_003982.4(SLC7A7):c.390C>T (p.Thr130=)
|
rs1473768240
|
|
NM_003982.4(SLC7A7):c.399C>A (p.Ala133=)
|
rs2138662176
|
|
NM_003982.4(SLC7A7):c.39T>C (p.Pro13=)
|
rs200484429
|
|
NM_003982.4(SLC7A7):c.402C>T (p.Ile134=)
|
rs375801568
|
|
NM_003982.4(SLC7A7):c.411C>A (p.Ile137=)
|
|
|
NM_003982.4(SLC7A7):c.420C>T (p.Ala140=)
|
rs2138662044
|
|
NM_003982.4(SLC7A7):c.423C>T (p.Asn141=)
|
|
|
NM_003982.4(SLC7A7):c.426C>T (p.Tyr142=)
|
rs1386037910
|
|
NM_003982.4(SLC7A7):c.42G>A (p.Glu14=)
|
|
|
NM_003982.4(SLC7A7):c.435G>A (p.Gln145=)
|
|
|
NM_003982.4(SLC7A7):c.447G>C (p.Pro149=)
|
|
|
NM_003982.4(SLC7A7):c.447G>T (p.Pro149=)
|
|
|
NM_003982.4(SLC7A7):c.459C>T (p.Ala153=)
|
|
|
NM_003982.4(SLC7A7):c.45G>T (p.Val15=)
|
|
|
NM_003982.4(SLC7A7):c.468T>C (p.Ala156=)
|
rs1225448681
|
|
NM_003982.4(SLC7A7):c.471C>T (p.Ala157=)
|
rs2138661685
|
|
NM_003982.4(SLC7A7):c.481C>T (p.Leu161=)
|
|
|
NM_003982.4(SLC7A7):c.483G>A (p.Leu161=)
|
|
|
NM_003982.4(SLC7A7):c.486T>G (p.Ala162=)
|
rs1594985030
|
|
NM_003982.4(SLC7A7):c.499+9G>C
|
rs893853391
|
|
NM_003982.4(SLC7A7):c.499+9G>T
|
rs893853391
|
|
NM_003982.4(SLC7A7):c.500-14T>C
|
|
|
NM_003982.4(SLC7A7):c.500-17T>C
|
|
|
NM_003982.4(SLC7A7):c.500-18G>C
|
|
|
NM_003982.4(SLC7A7):c.500-20C>T
|
|
|
NM_003982.4(SLC7A7):c.504C>G (p.Leu168=)
|
|
|
NM_003982.4(SLC7A7):c.519C>T (p.Asn173=)
|
rs2038690400
|
|
NM_003982.4(SLC7A7):c.522T>C (p.Cys174=)
|
|
|
NM_003982.4(SLC7A7):c.525C>T (p.Ala175=)
|
|
|
NM_003982.4(SLC7A7):c.528T>C (p.Tyr176=)
|
rs2139397490
|
|
NM_003982.4(SLC7A7):c.531C>T (p.Val177=)
|
|
|
NM_003982.4(SLC7A7):c.543C>A (p.Thr181=)
|
|
|
NM_003982.4(SLC7A7):c.543C>T (p.Thr181=)
|
|
|
NM_003982.4(SLC7A7):c.54C>T (p.Ser18=)
|
rs2138664113
|
|
NM_003982.4(SLC7A7):c.555T>C (p.Asp185=)
|
rs2139397395
|
|
NM_003982.4(SLC7A7):c.564C>T (p.Thr188=)
|
rs2139397358
|
|
NM_003982.4(SLC7A7):c.577T>C (p.Leu193=)
|
rs770073141
|
|
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=)
|
rs750720946
|
|
NM_003982.4(SLC7A7):c.603A>G (p.Ala201=)
|
rs2139397186
|
|
NM_003982.4(SLC7A7):c.613A>C (p.Arg205=)
|
|
|
NM_003982.4(SLC7A7):c.615A>G (p.Arg205=)
|
|
|
NM_003982.4(SLC7A7):c.625+12T>C
|
|
|
NM_003982.4(SLC7A7):c.625+17G>A
|
|
|
NM_003982.4(SLC7A7):c.625+18T>C
|
rs974421997
|
|
NM_003982.4(SLC7A7):c.625+7A>G
|
|
|
NM_003982.4(SLC7A7):c.625+8A>G
|
|
|
NM_003982.4(SLC7A7):c.625+9T>C
|
|
|
NM_003982.4(SLC7A7):c.625+9del
|
|
|
NM_003982.4(SLC7A7):c.626-13T>A
|
|
|
NM_003982.4(SLC7A7):c.626-14T>G
|
rs2139395142
|
|
NM_003982.4(SLC7A7):c.626-18A>C
|
|
|
NM_003982.4(SLC7A7):c.626-18A>G
|
|
|
NM_003982.4(SLC7A7):c.626-8G>T
|
|
|
NM_003982.4(SLC7A7):c.627A>G (p.Gly209=)
|
|
|
NM_003982.4(SLC7A7):c.63T>A (p.Gly21=)
|
|
|
NM_003982.4(SLC7A7):c.642T>C (p.Phe214=)
|
rs2139395072
|
|
NM_003982.4(SLC7A7):c.645G>A (p.Glu215=)
|
rs2139395059
|
|
NM_003982.4(SLC7A7):c.66T>C (p.Asp22=)
|
rs2138664033
|
|
NM_003982.4(SLC7A7):c.675G>A (p.Val225=)
|
|
|
NM_003982.4(SLC7A7):c.708G>A (p.Leu236=)
|
|
|
NM_003982.4(SLC7A7):c.708G>T (p.Leu236=)
|
rs1566442536
|
|
NM_003982.4(SLC7A7):c.729C>T (p.Asp243=)
|
rs2139394830
|
|
NM_003982.4(SLC7A7):c.735C>T (p.Leu245=)
|
rs1594948146
|
|
NM_003982.4(SLC7A7):c.756C>T (p.Ile252=)
|
|
|
NM_003982.4(SLC7A7):c.762T>C (p.Asn254=)
|
rs2139394710
|
|
NM_003982.4(SLC7A7):c.770+10G>A
|
|
|
NM_003982.4(SLC7A7):c.770+16C>A
|
|
|
NM_003982.4(SLC7A7):c.770+16C>T
|
|
|
NM_003982.4(SLC7A7):c.770+19_770+26del
|
|
|
NM_003982.4(SLC7A7):c.770+19dup
|
|
|
NM_003982.4(SLC7A7):c.771-10T>C
|
|
|
NM_003982.4(SLC7A7):c.771-11T>A
|
|
|
NM_003982.4(SLC7A7):c.771-11T>C
|
|
|
NM_003982.4(SLC7A7):c.771-15T>G
|
|
|
NM_003982.4(SLC7A7):c.775C>T (p.Leu259=)
|
|
|
NM_003982.4(SLC7A7):c.777G>T (p.Leu259=)
|
|
|
NM_003982.4(SLC7A7):c.783C>T (p.Leu261=)
|
|
|
NM_003982.4(SLC7A7):c.798C>G (p.Ser266=)
|
rs2139389185
|
|
NM_003982.4(SLC7A7):c.804C>T (p.Pro268=)
|
|
|
NM_003982.4(SLC7A7):c.807T>C (p.Ile269=)
|
|
|
NM_003982.4(SLC7A7):c.813C>A (p.Thr271=)
|
rs2139389124
|
|
NM_003982.4(SLC7A7):c.81G>A (p.Gly27=)
|
|
|
NM_003982.4(SLC7A7):c.822T>C (p.Tyr274=)
|
|
|
NM_003982.4(SLC7A7):c.825C>T (p.Ile275=)
|
rs2139389052
|
|
NM_003982.4(SLC7A7):c.828G>A (p.Leu276=)
|
|
|
NM_003982.4(SLC7A7):c.831C>G (p.Thr277=)
|
|
|
NM_003982.4(SLC7A7):c.834T>C (p.Asn278=)
|
|
|
NM_003982.4(SLC7A7):c.837G>A (p.Val279=)
|
|
|
NM_003982.4(SLC7A7):c.846T>C (p.Tyr282=)
|
rs2038603917
|
|
NM_003982.4(SLC7A7):c.852G>A (p.Val284=)
|
rs1351778419
|
|
NM_003982.4(SLC7A7):c.888T>C (p.Val296=)
|
|
|
NM_003982.4(SLC7A7):c.891T>C (p.Ala297=)
|
|
|
NM_003982.4(SLC7A7):c.894+15C>T
|
|
|
NM_003982.4(SLC7A7):c.894+19C>T
|
|
|
NM_003982.4(SLC7A7):c.894+8A>G
|
|
|
NM_003982.4(SLC7A7):c.895-14T>C
|
|
|
NM_003982.4(SLC7A7):c.895-15A>G
|
|
|
NM_003982.4(SLC7A7):c.895-20_895-19del
|
|
|
NM_003982.4(SLC7A7):c.895-6C>T
|
|
|
NM_003982.4(SLC7A7):c.895-7C>G
|
|
|
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val)
|
rs539843065
|
|
NM_003982.4(SLC7A7):c.936T>A (p.Ile312=)
|
|
|
NM_003982.4(SLC7A7):c.940C>T (p.Leu314=)
|
|
|
NM_003982.4(SLC7A7):c.963T>C (p.Phe321=)
|
|
|
NM_003982.4(SLC7A7):c.966T>G (p.Gly322=)
|
rs780862401
|
|
NM_003982.4(SLC7A7):c.975T>C (p.Asn325=)
|
rs2038593013
|
|
NM_003982.4(SLC7A7):c.984T>A (p.Ile328=)
|
|
|
NM_003982.4(SLC7A7):c.993T>C (p.Ala331=)
|
|
|
NM_003982.4(SLC7A7):c.998+10G>A
|
|
|
NM_003982.4(SLC7A7):c.998+10G>T
|
|
|
NM_003982.4(SLC7A7):c.998+11C>T
|
|
|
NM_003982.4(SLC7A7):c.998+13A>C
|
|
|
NM_003982.4(SLC7A7):c.998+13A>T
|
|
|
NM_003982.4(SLC7A7):c.998+15T>A
|
|
|
NM_003982.4(SLC7A7):c.998+16T>C
|
|
|
NM_003982.4(SLC7A7):c.998+19G>C
|
|
|
NM_003982.4(SLC7A7):c.998+7G>C
|
|
|
NM_003982.4(SLC7A7):c.998+8T>C
|
|
|
NM_003982.4(SLC7A7):c.998+9G>A
|
rs1350841635
|
|
NM_003982.4(SLC7A7):c.999-10C>T
|
|
|
NM_003982.4(SLC7A7):c.999-14C>G
|
|
|
NM_003982.4(SLC7A7):c.999-16A>G
|
rs1594944509
|
|
NM_003982.4(SLC7A7):c.999-19C>G
|
|
|
NM_003982.4(SLC7A7):c.999-19C>T
|
|
|
NM_003982.4(SLC7A7):c.999-4A>G
|
|
|
NM_003982.4(SLC7A7):c.999-5C>T
|
rs2139387275
|
|
NM_004408.4(DNM1):c.1020T>C (p.Phe340=)
|
rs2131173713
|
|
NM_004408.4(DNM1):c.1028G>A (p.Arg343His)
|
|
|
NM_004408.4(DNM1):c.1035G>A (p.Glu345=)
|
|
|
NM_004408.4(DNM1):c.1089C>T (p.Asn363=)
|
rs1377650055
|
|
NM_004408.4(DNM1):c.108G>T (p.Val36=)
|
|
|
NM_004408.4(DNM1):c.1104G>A (p.Glu368=)
|
|
|
NM_004408.4(DNM1):c.1125C>A (p.Val375=)
|
rs760118978
|
|
NM_004408.4(DNM1):c.1128+12A>C
|
|
|
NM_004408.4(DNM1):c.1129-18C>A
|
|
|
NM_004408.4(DNM1):c.1134G>A (p.Glu378=)
|
rs1365194190
|
|
NM_004408.4(DNM1):c.1140T>C (p.Asp380=)
|
|
|
NM_004408.4(DNM1):c.114C>A (p.Gly38=)
|
|
|
NM_004408.4(DNM1):c.114C>T (p.Gly38=)
|
rs1326366504
|
|
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter)
|
rs1835102166
|
|
NM_004408.4(DNM1):c.1182T>C (p.Asn394=)
|
rs1171703565
|
|
NM_004408.4(DNM1):c.1196+14C>A
|
|
|
NM_004408.4(DNM1):c.1196+16T>C
|
|
|
NM_004408.4(DNM1):c.1196+17G>A
|
|
|
NM_004408.4(DNM1):c.1196+7A>C
|
rs955349107
|
|
NM_004408.4(DNM1):c.1196+7A>T
|
|
|
NM_004408.4(DNM1):c.1196+8T>C
|
rs1588370851
|
|
NM_004408.4(DNM1):c.1197-14C>T
|
|
|
NM_004408.4(DNM1):c.1197-16C>G
|
|
|
NM_004408.4(DNM1):c.1206G>A (p.Leu402=)
|
rs754423616
|
|
NM_004408.4(DNM1):c.1226T>C (p.Phe409Ser)
|
rs2131181546
|
|
NM_004408.4(DNM1):c.1257G>A (p.Lys419=)
|
rs2131181635
|
|
NM_004408.4(DNM1):c.1299G>A (p.Ser433=)
|
|
|
NM_004408.4(DNM1):c.1303C>T (p.Leu435=)
|
|
|
NM_004408.4(DNM1):c.1329C>G (p.Thr443=)
|
rs2131181922
|
|
NM_004408.4(DNM1):c.1335+13C>T
|
|
|
NM_004408.4(DNM1):c.1335+14C>T
|
|
|
NM_004408.4(DNM1):c.1335+15C>G
|
|
|
NM_004408.4(DNM1):c.1335+15C>T
|
rs779719063
|
|
NM_004408.4(DNM1):c.1335+16G>T
|
rs768442528
|
|
NM_004408.4(DNM1):c.1336-18C>T
|
|
|
NM_004408.4(DNM1):c.1336-6C>T
|
rs1400533057
|
|
NM_004408.4(DNM1):c.1344G>A (p.Gln448=)
|
rs1352962318
|
|
NM_004408.4(DNM1):c.1377C>T (p.Ile459=)
|
rs756256016
|
|
NM_004408.4(DNM1):c.138G>A (p.Ser46=)
|
rs781131754
|
|
NM_004408.4(DNM1):c.1393C>T (p.Arg465Trp)
|
rs772264918
|
|
NM_004408.4(DNM1):c.1401C>A (p.Arg467=)
|
|
|
NM_004408.4(DNM1):c.1416G>A (p.Lys472=)
|
rs1835861637
|
|
NM_004408.4(DNM1):c.1422+13G>A
|
|
|
NM_004408.4(DNM1):c.1422+19G>A
|
rs1440002003
|
|
NM_004408.4(DNM1):c.1422+19G>T
|
|
|
NM_004408.4(DNM1):c.1422+6_1422+83dup
|
|
|
NM_004408.4(DNM1):c.1422+8C>T
|
|
|
NM_004408.4(DNM1):c.1423-16C>T
|
|
|
NM_004408.4(DNM1):c.1423-16del
|
|
|
NM_004408.4(DNM1):c.1423-17C>T
|
|
|
NM_004408.4(DNM1):c.1461C>T (p.Asn487=)
|
rs1318922555
|
|
NM_004408.4(DNM1):c.1462A>G (p.Thr488Ala)
|
rs2131251443
|
|
NM_004408.4(DNM1):c.1493+17G>A
|
|
|
NM_004408.4(DNM1):c.1494-11C>T
|
|
|
NM_004408.4(DNM1):c.1494-5A>G
|
rs1836247500
|
|
NM_004408.4(DNM1):c.1512C>T (p.Asn504=)
|
|
|
NM_004408.4(DNM1):c.1545+18C>A
|
|
|
NM_004408.4(DNM1):c.1557+1G>C
|
rs1230944082
|
|
NM_004408.4(DNM1):c.1558-13C>T
|
rs2131262430
|
|
NM_004408.4(DNM1):c.1566C>T (p.Arg522=)
|
|
|
NM_004408.4(DNM1):c.161+14G>A
|
|
|
NM_004408.4(DNM1):c.161+8C>T
|
|
|
NM_004408.4(DNM1):c.162-8C>T
|
rs1205557529
|
|
NM_004408.4(DNM1):c.162-9T>G
|
rs920593927
|
|
NM_004408.4(DNM1):c.1665T>C (p.Asp555=)
|
|
|
NM_004408.4(DNM1):c.1671+7C>G
|
|
|
NM_004408.4(DNM1):c.1671+7C>T
|
|
|
NM_004408.4(DNM1):c.1698T>C (p.Ser566=)
|
rs749674787
|
|
NM_004408.4(DNM1):c.1714C>T (p.Leu572=)
|
rs2131283571
|
|
NM_004408.4(DNM1):c.1761C>T (p.Ala587=)
|
|
|
NM_004408.4(DNM1):c.1781+16del
|
|
|
NM_004408.4(DNM1):c.1781+18G>C
|
|
|
NM_004408.4(DNM1):c.1781+9C>T
|
|
|
NM_004408.4(DNM1):c.1782-13C>T
|
|
|
NM_004408.4(DNM1):c.1782-8T>C
|
|
|
NM_004408.4(DNM1):c.1807C>T (p.Leu603=)
|
|
|
NM_004408.4(DNM1):c.1850A>G (p.Lys617Arg)
|
rs1564352065
|
|
NM_004408.4(DNM1):c.1893+7G>T
|
rs1157263142
|
|
NM_004408.4(DNM1):c.1894-10G>A
|
|
|
NM_004408.4(DNM1):c.1894-8C>T
|
rs912124924
|
|
NM_004408.4(DNM1):c.1905+9G>T
|
rs2131289646
|
|
NM_004408.4(DNM1):c.1906-12T>C
|
|
|
NM_004408.4(DNM1):c.1920G>A (p.Glu640=)
|
rs1554784647
|
|
NM_004408.4(DNM1):c.1935C>T (p.Asp645=)
|
|
|
NM_004408.4(DNM1):c.1969C>A (p.Arg657=)
|
rs2131291997
|
|
NM_004408.4(DNM1):c.1983C>T (p.Thr661=)
|
|
|
NM_004408.4(DNM1):c.2009T>C (p.Met670Thr)
|
rs1437208936
|
|
NM_004408.4(DNM1):c.2022C>T (p.Asn674=)
|
|
|
NM_004408.4(DNM1):c.2028C>T (p.Thr676=)
|
rs1339784958
|
|
NM_004408.4(DNM1):c.2031G>A (p.Val677=)
|
rs1441521036
|
|
NM_004408.4(DNM1):c.2055C>A (p.Ile685=)
|
|
|
NM_004408.4(DNM1):c.2061C>T (p.His687=)
|
rs1026710429
|
|
NM_004408.4(DNM1):c.2077-16C>T
|
|
|
NM_004408.4(DNM1):c.2077-5C>G
|
|
|
NM_004408.4(DNM1):c.2077-8A>G
|
|
|
NM_004408.4(DNM1):c.2082G>A (p.Lys694=)
|
rs1284689897
|
|
NM_004408.4(DNM1):c.2106G>C (p.Leu702=)
|
|
|
NM_004408.4(DNM1):c.2121G>A (p.Ser707=)
|
|
|
NM_004408.4(DNM1):c.2157G>C (p.Ala719=)
|
|
|
NM_004408.4(DNM1):c.216G>A (p.Gln72=)
|
rs781185286
|
|
NM_004408.4(DNM1):c.2170C>A (p.Arg724=)
|
rs1386035686
|
|
NM_004408.4(DNM1):c.2178C>T (p.Asp726=)
|
|
|
NM_004408.4(DNM1):c.2187G>A (p.Leu729=)
|
rs749382749
|
|
NM_004408.4(DNM1):c.2190C>T (p.Arg730=)
|
|
|
NM_004408.4(DNM1):c.2208G>A (p.Lys736=)
|
rs1829430358
|
|
NM_004408.4(DNM1):c.2211G>A (p.Glu737=)
|
|
|
NM_004408.4(DNM1):c.2241G>C (p.Thr747=)
|
rs1184149576
|
|
NM_004408.4(DNM1):c.2241G>T (p.Thr747=)
|
|
|
NM_004408.4(DNM1):c.2271C>G (p.Pro757=)
|
rs762520472
|
|
NM_004408.4(DNM1):c.2271C>T (p.Pro757=)
|
rs762520472
|
|
NM_004408.4(DNM1):c.2289G>T (p.Leu763=)
|
rs1393047937
|
|
NM_004408.4(DNM1):c.2318+14C>A
|
rs1251375115
|
|
NM_004408.4(DNM1):c.2319-5C>G
|
rs947802436
|
|
NM_004408.4(DNM1):c.2319-5C>T
|
|
|
NM_004408.4(DNM1):c.2319-8G>A
|
|
|
NM_004408.4(DNM1):c.2319-9C>T
|
|
|
NM_004408.4(DNM1):c.2340G>A (p.Thr780=)
|
|
|
NM_004408.4(DNM1):c.235+18C>T
|
|
|
NM_004408.4(DNM1):c.235+9C>T
|
rs1834733486
|
|
NM_004408.4(DNM1):c.236-17G>T
|
|
|
NM_004408.4(DNM1):c.2385G>A (p.Ser795=)
|
|
|
NM_004408.4(DNM1):c.2391C>G (p.Gly797=)
|
rs1057521943
|
|
NM_004408.4(DNM1):c.2391C>T (p.Gly797=)
|
rs1057521943
|
|
NM_004408.4(DNM1):c.2427G>C (p.Leu809=)
|
rs897409469
|
|
NM_004408.4(DNM1):c.2429G>T (p.Gly810Val)
|
rs888747029
|
|
NM_004408.4(DNM1):c.2430G>C (p.Gly810=)
|
|
|
NM_004408.4(DNM1):c.243C>A (p.Ala81=)
|
|
|
NM_004408.4(DNM1):c.2445G>T (p.Val815=)
|
|
|
NM_004408.4(DNM1):c.2466C>A (p.Ser822=)
|
|
|
NM_004408.4(DNM1):c.246G>A (p.Glu82=)
|
|
|
NM_004408.4(DNM1):c.2484T>A (p.Pro828=)
|
rs888550421
|
|
NM_004408.4(DNM1):c.2496G>A (p.Val832=)
|
rs2131299802
|
|
NM_004408.4(DNM1):c.2526G>T (p.Gly842=)
|
rs1390465556
|
|
NM_004408.4(DNM1):c.2531C>G (p.Pro844Arg)
|
rs1564355393
|
|
NM_004408.4(DNM1):c.2534+7A>G
|
|
|
NM_004408.4(DNM1):c.2535-17T>C
|
|
|
NM_004408.4(DNM1):c.2541G>T (p.Ser847=)
|
|
|
NM_004408.4(DNM1):c.2544T>G (p.Gly848=)
|
|
|
NM_004408.4(DNM1):c.2583dup (p.Phe862fs)
|
rs1244967245
|
|
NM_004408.4(DNM1):c.2592C>T (p.Leu864=)
|
rs2131314459
|
|
NM_004408.4(DNM1):c.2594A>G (p.Ter865=)
|
rs550838267
|
|
NM_004408.4(DNM1):c.263_264delinsCT (p.Gly88Ala)
|
rs2131150312
|
|
NM_004408.4(DNM1):c.304G>A (p.Glu102Lys)
|
rs2131150438
|
|
NM_004408.4(DNM1):c.327C>T (p.Thr109=)
|
|
|
NM_004408.4(DNM1):c.342C>T (p.Gly114=)
|
rs553331150
|
|
NM_004408.4(DNM1):c.375C>T (p.Tyr125=)
|
rs2131150705
|
|
NM_004408.4(DNM1):c.385+11T>C
|
|
|
NM_004408.4(DNM1):c.385+18G>A
|
rs2131150824
|
|
NM_004408.4(DNM1):c.385+18G>C
|
|
|
NM_004408.4(DNM1):c.385+8C>T
|
|
|
NM_004408.4(DNM1):c.386-11G>T
|
|
|
NM_004408.4(DNM1):c.386-4C>G
|
|
|
NM_004408.4(DNM1):c.386-7T>C
|
rs1588352214
|
|
NM_004408.4(DNM1):c.411G>A (p.Leu137=)
|
|
|
NM_004408.4(DNM1):c.411G>T (p.Leu137=)
|
rs1051766292
|
|
NM_004408.4(DNM1):c.435G>T (p.Val145=)
|
|
|
NM_004408.4(DNM1):c.438G>A (p.Gly146=)
|
|
|
NM_004408.4(DNM1):c.468C>T (p.Ile156=)
|
|
|
NM_004408.4(DNM1):c.471A>G (p.Arg157=)
|
rs2131152882
|
|
NM_004408.4(DNM1):c.507C>T (p.Cys169=)
|
|
|
NM_004408.4(DNM1):c.519C>T (p.Ala173=)
|
rs2131152966
|
|
NM_004408.4(DNM1):c.54C>T (p.Asp18=)
|
rs2131061036
|
|
NM_004408.4(DNM1):c.589+14C>G
|
|
|
NM_004408.4(DNM1):c.589+19G>A
|
|
|
NM_004408.4(DNM1):c.589+8C>T
|
rs1588352832
|
|
NM_004408.4(DNM1):c.599C>T (p.Thr200Ile)
|
rs1834848160
|
|
NM_004408.4(DNM1):c.609C>T (p.Val203=)
|
rs1430929380
|
|
NM_004408.4(DNM1):c.644A>T (p.Asp215Val)
|
|
|
NM_004408.4(DNM1):c.669G>A (p.Lys223=)
|
rs2131157240
|
|
NM_004408.4(DNM1):c.683G>A (p.Arg228His)
|
rs866946278
|
|
NM_004408.4(DNM1):c.688+11C>T
|
rs2131157325
|
|
NM_004408.4(DNM1):c.688+13T>C
|
|
|
NM_004408.4(DNM1):c.688+16C>A
|
|
|
NM_004408.4(DNM1):c.688+16C>G
|
|
|
NM_004408.4(DNM1):c.688+17C>T
|
|
|
NM_004408.4(DNM1):c.688+18C>G
|
rs1253064816
|
|
NM_004408.4(DNM1):c.688+18C>T
|
|
|
NM_004408.4(DNM1):c.689-11A>T
|
|
|
NM_004408.4(DNM1):c.689-7T>C
|
|
|
NM_004408.4(DNM1):c.723C>T (p.Asp241=)
|
|
|
NM_004408.4(DNM1):c.741C>T (p.Asp247=)
|
|
|
NM_004408.4(DNM1):c.750C>T (p.Ala250=)
|
rs778276496
|
|
NM_004408.4(DNM1):c.753C>T (p.Ala251=)
|
rs1834862864
|
|
NM_004408.4(DNM1):c.757G>T (p.Ala253Ser)
|
rs752005713
|
|
NM_004408.4(DNM1):c.766C>T (p.Arg256Ter)
|
rs1456731322
|
|
NM_004408.4(DNM1):c.780C>G (p.Leu260=)
|
|
|
NM_004408.4(DNM1):c.791C>A (p.Ser264Tyr)
|
rs778811040
|
|
NM_004408.4(DNM1):c.792T>A (p.Ser264=)
|
|
|
NM_004408.4(DNM1):c.801C>T (p.His267=)
|
|
|
NM_004408.4(DNM1):c.807T>C (p.Ala269=)
|
rs1261949821
|
|
NM_004408.4(DNM1):c.81G>A (p.Ala27=)
|
rs1268920821
|
|
NM_004408.4(DNM1):c.824C>T (p.Pro275Leu)
|
rs1156961123
|
|
NM_004408.4(DNM1):c.843C>T (p.Leu281=)
|
rs764376283
|
|
NM_004408.4(DNM1):c.849+10C>A
|
rs2131158360
|
|
NM_004408.4(DNM1):c.858G>A (p.Thr286=)
|
|
|
NM_004408.4(DNM1):c.876A>G (p.Thr292=)
|
rs1194475149
|
|
NM_004408.4(DNM1):c.888G>A (p.Leu296=)
|
|
|
NM_004408.4(DNM1):c.891G>C (p.Arg297=)
|
rs2131172668
|
|
NM_004408.4(DNM1):c.898C>T (p.Leu300=)
|
|
|
NM_004408.4(DNM1):c.909G>A (p.Gln303=)
|
|
|
NM_004408.4(DNM1):c.921T>C (p.Ile307=)
|
|
|
NM_004408.4(DNM1):c.930G>A (p.Glu310=)
|
rs1272441165
|
|
NM_004408.4(DNM1):c.942C>T (p.Tyr314=)
|
|
|
NM_004408.4(DNM1):c.945G>T (p.Lys315Asn)
|
rs528406413
|
|
NM_004408.4(DNM1):c.954C>T (p.Arg318=)
|
rs774518740
|
|
NM_004408.4(DNM1):c.993-17C>T
|
|
|
NM_004408.4(DNM1):c.993-19C>G
|
rs1835081298
|
|
NM_004408.4(DNM1):c.993-6C>T
|
rs1196657001
|
|
NM_004453.4(ETFDH):c.1002G>C (p.Leu334=)
|
rs1476673975
|
|
NM_004453.4(ETFDH):c.1026G>A (p.Arg342=)
|
|
|
NM_004453.4(ETFDH):c.1050G>A (p.Arg350=)
|
|
|
NM_004453.4(ETFDH):c.1053A>T (p.Pro351=)
|
|
|
NM_004453.4(ETFDH):c.1056C>T (p.Thr352=)
|
rs2150312272
|
|
NM_004453.4(ETFDH):c.1089C>T (p.Ala363=)
|
rs1774391973
|
|
NM_004453.4(ETFDH):c.1092A>G (p.Arg364=)
|
|
|
NM_004453.4(ETFDH):c.1095T>C (p.Ala365=)
|
rs1774392244
|
|
NM_004453.4(ETFDH):c.1098C>T (p.Leu366=)
|
rs1245353864
|
|
NM_004453.4(ETFDH):c.1116+13A>G
|
|
|
NM_004453.4(ETFDH):c.1116+7C>T
|
rs748640706
|
|
NM_004453.4(ETFDH):c.1117-11T>C
|
rs917132143
|
|
NM_004453.4(ETFDH):c.1117-19T>G
|
|
|
NM_004453.4(ETFDH):c.1117-20C>G
|
|
|
NM_004453.4(ETFDH):c.1117-9T>C
|
|
|
NM_004453.4(ETFDH):c.1140T>G (p.Pro380=)
|
rs2126309197
|
|
NM_004453.4(ETFDH):c.114T>C (p.Thr38=)
|
|
|
NM_004453.4(ETFDH):c.1155T>C (p.Ile385=)
|
rs2126309228
|
|
NM_004453.4(ETFDH):c.1170T>C (p.Gly390=)
|
|
|
NM_004453.4(ETFDH):c.117G>A (p.Val39=)
|
rs2150304380
|
|
NM_004453.4(ETFDH):c.1182T>G (p.Val394=)
|
rs1230662616
|
|
NM_004453.4(ETFDH):c.1197T>G (p.Gly399=)
|
rs2126309283
|
|
NM_004453.4(ETFDH):c.1209A>C (p.Ala403=)
|
rs1198347315
|
|
NM_004453.4(ETFDH):c.1239T>C (p.Ser413=)
|
|
|
NM_004453.4(ETFDH):c.1252C>T (p.Leu418=)
|
rs769904185
|
|
NM_004453.4(ETFDH):c.1257T>A (p.Thr419=)
|
|
|
NM_004453.4(ETFDH):c.1269C>G (p.Leu423=)
|
|
|
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=)
|
rs1284823413
|
|
NM_004453.4(ETFDH):c.1285+14G>A
|
|
|
NM_004453.4(ETFDH):c.1285+16G>A
|
|
|
NM_004453.4(ETFDH):c.1285+17T>C
|
|
|
NM_004453.4(ETFDH):c.1286-10T>C
|
rs2126314578
|
|
NM_004453.4(ETFDH):c.1286-12T>C
|
|
|
NM_004453.4(ETFDH):c.1286-15T>C
|
|
|
NM_004453.4(ETFDH):c.1286-20T>C
|
|
|
NM_004453.4(ETFDH):c.129T>C (p.Thr43=)
|
|
|
NM_004453.4(ETFDH):c.1315T>C (p.Leu439=)
|
rs1580422521
|
|
NM_004453.4(ETFDH):c.1323C>T (p.Asn441=)
|
rs1580422538
|
|
NM_004453.4(ETFDH):c.1332A>G (p.Val444=)
|
|
|
NM_004453.4(ETFDH):c.1365A>G (p.Arg455=)
|
rs1580422667
|
|
NM_004453.4(ETFDH):c.1386G>T (p.Leu462=)
|
|
|
NM_004453.4(ETFDH):c.1389T>A (p.Gly463=)
|
|
|
NM_004453.4(ETFDH):c.1395T>C (p.Tyr465=)
|
|
|
NM_004453.4(ETFDH):c.1398A>G (p.Gly466=)
|
rs1400986353
|
|
NM_004453.4(ETFDH):c.1398A>T (p.Gly466=)
|
|
|
NM_004453.4(ETFDH):c.1416A>T (p.Gly472=)
|
|
|
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=)
|
rs143873407
|
|
NM_004453.4(ETFDH):c.1468+10A>G
|
rs144205191
|
|
NM_004453.4(ETFDH):c.1468+10A>T
|
rs144205191
|
|
NM_004453.4(ETFDH):c.1468+14G>A
|
|
|
NM_004453.4(ETFDH):c.1468+14G>C
|
|
|
NM_004453.4(ETFDH):c.1468+16G>A
|
|
|
NM_004453.4(ETFDH):c.1468+20G>A
|
|
|
NM_004453.4(ETFDH):c.1468+20G>C
|
|
|
NM_004453.4(ETFDH):c.1468+7C>T
|
|
|
NM_004453.4(ETFDH):c.1468+9A>G
|
|
|
NM_004453.4(ETFDH):c.1469-17C>T
|
|
|
NM_004453.4(ETFDH):c.1469-18C>T
|
|
|
NM_004453.4(ETFDH):c.1469-19T>G
|
rs2126316001
|
|
NM_004453.4(ETFDH):c.1469-4G>A
|
|
|
NM_004453.4(ETFDH):c.1469-4dup
|
|
|
NM_004453.4(ETFDH):c.1469-7G>T
|
|
|
NM_004453.4(ETFDH):c.1469-8T>C
|
rs1774625470
|
|
NM_004453.4(ETFDH):c.1485G>A (p.Arg495=)
|
|
|
NM_004453.4(ETFDH):c.1503T>C (p.Asp501=)
|
rs752947878
|
|
NM_004453.4(ETFDH):c.150C>T (p.Pro50=)
|
|
|
NM_004453.4(ETFDH):c.1539G>A (p.Gln513=)
|
|
|
NM_004453.4(ETFDH):c.1542C>T (p.Ile514=)
|
rs2126316304
|
|
NM_004453.4(ETFDH):c.1554C>T (p.Leu518=)
|
|
|
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)
|
rs533097197
|
|
NM_004453.4(ETFDH):c.1557G>A (p.Leu519=)
|
|
|
NM_004453.4(ETFDH):c.1560A>G (p.Ser520=)
|
rs566844923
|
|
NM_004453.4(ETFDH):c.1560A>T (p.Ser520=)
|
rs566844923
|
|
NM_004453.4(ETFDH):c.1563T>C (p.Ser521=)
|
|
|
NM_004453.4(ETFDH):c.1581T>G (p.Thr527=)
|
|
|
NM_004453.4(ETFDH):c.1584T>C (p.Asn528=)
|
rs2126316485
|
|
NM_004453.4(ETFDH):c.1593T>C (p.His531=)
|
rs2126316550
|
|
NM_004453.4(ETFDH):c.1596C>T (p.Asp532=)
|
|
|
NM_004453.4(ETFDH):c.1599G>A (p.Gln533=)
|
|
|
NM_004453.4(ETFDH):c.15A>G (p.Leu5=)
|
|
|
NM_004453.4(ETFDH):c.1602G>C (p.Pro534=)
|
|
|
NM_004453.4(ETFDH):c.1605A>G (p.Ala535=)
|
|
|
NM_004453.4(ETFDH):c.1623T>C (p.Asp541=)
|
rs1580423557
|
|
NM_004453.4(ETFDH):c.1626C>T (p.Asp542=)
|
|
|
NM_004453.4(ETFDH):c.1629T>C (p.Ser543=)
|
|
|
NM_004453.4(ETFDH):c.1641T>C (p.Asn547=)
|
|
|
NM_004453.4(ETFDH):c.1650G>A (p.Leu550=)
|
|
|
NM_004453.4(ETFDH):c.1653G>T (p.Ser551=)
|
rs1408118210
|
|
NM_004453.4(ETFDH):c.1662T>C (p.Asp554=)
|
rs2126316862
|
|
NM_004453.4(ETFDH):c.1674G>A (p.Gln558=)
|
rs2126316924
|
|
NM_004453.4(ETFDH):c.1677A>G (p.Arg559=)
|
|
|
NM_004453.4(ETFDH):c.1690+14T>C
|
|
|
NM_004453.4(ETFDH):c.1690+18T>C
|
|
|
NM_004453.4(ETFDH):c.1690+9T>G
|
|
|
NM_004453.4(ETFDH):c.1691-14_1691-9del
|
|
|
NM_004453.4(ETFDH):c.1691-15A>G
|
|
|
NM_004453.4(ETFDH):c.1691-15A>T
|
|
|
NM_004453.4(ETFDH):c.1691-18T>C
|
|
|
NM_004453.4(ETFDH):c.1691-4T>C
|
|
|
NM_004453.4(ETFDH):c.1691-7T>C
|
|
|
NM_004453.4(ETFDH):c.1691-8_1691-2dup
|
rs1326899328
|
|
NM_004453.4(ETFDH):c.1698T>C (p.Tyr566=)
|
rs2126320707
|
|
NM_004453.4(ETFDH):c.1716A>G (p.Glu572=)
|
rs2126320794
|
|
NM_004453.4(ETFDH):c.1725T>C (p.Asp575=)
|
rs1774697442
|
|
NM_004453.4(ETFDH):c.175+15G>C
|
rs2150304437
|
|
NM_004453.4(ETFDH):c.175+18T>A
|
rs778154689
|
|
NM_004453.4(ETFDH):c.175+19A>G
|
|
|
NM_004453.4(ETFDH):c.175+20C>G
|
|
|
NM_004453.4(ETFDH):c.175+3A>G
|
rs781151266
|
|
NM_004453.4(ETFDH):c.176-19G>T
|
|
|
NM_004453.4(ETFDH):c.176-20A>G
|
|
|
NM_004453.4(ETFDH):c.176-4C>T
|
|
|
NM_004453.4(ETFDH):c.176-5C>T
|
rs2150305143
|
|
NM_004453.4(ETFDH):c.1767T>C (p.Cys589=)
|
rs1580425819
|
|
NM_004453.4(ETFDH):c.1773A>G (p.Thr591=)
|
|
|
NM_004453.4(ETFDH):c.1800T>C (p.Asn600=)
|
rs2126321129
|
|
NM_004453.4(ETFDH):c.1806C>T (p.Asn602=)
|
|
|
NM_004453.4(ETFDH):c.180G>A (p.Val60=)
|
|
|
NM_004453.4(ETFDH):c.1815A>G (p.Val605=)
|
rs1248188975
|
|
NM_004453.4(ETFDH):c.183C>T (p.Asn61=)
|
rs2150305147
|
|
NM_004453.4(ETFDH):c.1848A>T (p.Gly616=)
|
|
|
NM_004453.4(ETFDH):c.21G>A (p.Lys7=)
|
rs1232501551
|
|
NM_004453.4(ETFDH):c.234T>A (p.Pro78=)
|
|
|
NM_004453.4(ETFDH):c.243C>A (p.Leu81=)
|
|
|
NM_004453.4(ETFDH):c.243C>G (p.Leu81=)
|
rs1186680703
|
|
NM_004453.4(ETFDH):c.24G>T (p.Leu8=)
|
|
|
NM_004453.4(ETFDH):c.252T>C (p.Ala84=)
|
|
|
NM_004453.4(ETFDH):c.259C>T (p.Leu87=)
|
rs2150305192
|
|
NM_004453.4(ETFDH):c.268T>C (p.Leu90=)
|
|
|
NM_004453.4(ETFDH):c.270G>A (p.Leu90=)
|
rs2150305205
|
|
NM_004453.4(ETFDH):c.282T>C (p.His94=)
|
|
|
NM_004453.4(ETFDH):c.288G>A (p.Lys96=)
|
|
|
NM_004453.4(ETFDH):c.291C>T (p.Asp97=)
|
rs2150305224
|
|
NM_004453.4(ETFDH):c.300G>A (p.Val100=)
|
rs1580396868
|
|
NM_004453.4(ETFDH):c.306A>C (p.Leu102=)
|
rs2150305233
|
|
NM_004453.4(ETFDH):c.306A>G (p.Leu102=)
|
rs2150305233
|
|
NM_004453.4(ETFDH):c.312G>A (p.Glu104=)
|
|
|
NM_004453.4(ETFDH):c.330A>C (p.Gly110=)
|
rs2150305251
|
|
NM_004453.4(ETFDH):c.339T>G (p.Thr113=)
|
|
|
NM_004453.4(ETFDH):c.34+11A>G
|
|
|
NM_004453.4(ETFDH):c.34+16C>A
|
|
|
NM_004453.4(ETFDH):c.34+17G>A
|
|
|
NM_004453.4(ETFDH):c.348G>A (p.Gly116=)
|
|
|
NM_004453.4(ETFDH):c.35-11T>C
|
|
|
NM_004453.4(ETFDH):c.35-16C>T
|
|
|
NM_004453.4(ETFDH):c.35-18T>A
|
|
|
NM_004453.4(ETFDH):c.35-20T>C
|
|
|
NM_004453.4(ETFDH):c.35-4G>A
|
|
|
NM_004453.4(ETFDH):c.35-6G>A
|
rs753999138
|
|
NM_004453.4(ETFDH):c.35-6G>T
|
rs753999138
|
|
NM_004453.4(ETFDH):c.35-7T>C
|
rs2150304320
|
|
NM_004453.4(ETFDH):c.35-8T>C
|
rs2150304318
|
|
NM_004453.4(ETFDH):c.36A>G (p.Ala12=)
|
rs201254467
|
|
NM_004453.4(ETFDH):c.387A>G (p.Pro129=)
|
rs1295185280
|
|
NM_004453.4(ETFDH):c.405+11T>C
|
|
|
NM_004453.4(ETFDH):c.405+13G>A
|
rs375086504
|
|
NM_004453.4(ETFDH):c.405+13G>T
|
|
|
NM_004453.4(ETFDH):c.406-13_406-11del
|
|
|
NM_004453.4(ETFDH):c.406-19T>C
|
|
|
NM_004453.4(ETFDH):c.406-20T>C
|
|
|
NM_004453.4(ETFDH):c.406-5T>C
|
|
|
NM_004453.4(ETFDH):c.411A>C (p.Pro137=)
|
rs1187372386
|
|
NM_004453.4(ETFDH):c.411A>G (p.Pro137=)
|
|
|
NM_004453.4(ETFDH):c.420T>C (p.Thr140=)
|
|
|
NM_004453.4(ETFDH):c.423T>A (p.Pro141=)
|
|
|
NM_004453.4(ETFDH):c.426A>C (p.Val142=)
|
|
|
NM_004453.4(ETFDH):c.426A>G (p.Val142=)
|
|
|
NM_004453.4(ETFDH):c.471T>C (p.Pro157=)
|
|
|
NM_004453.4(ETFDH):c.471T>G (p.Pro157=)
|
|
|
NM_004453.4(ETFDH):c.477A>G (p.Pro159=)
|
rs2150306341
|
|
NM_004453.4(ETFDH):c.477A>T (p.Pro159=)
|
rs2150306341
|
|
NM_004453.4(ETFDH):c.487+13G>T
|
|
|
NM_004453.4(ETFDH):c.487+14A>T
|
|
|
NM_004453.4(ETFDH):c.487+15A>G
|
|
|
NM_004453.4(ETFDH):c.487+15A>T
|
|
|
NM_004453.4(ETFDH):c.487+20C>A
|
|
|
NM_004453.4(ETFDH):c.487+8A>G
|
|
|
NM_004453.4(ETFDH):c.487+8A>T
|
rs1773956780
|
|
NM_004453.4(ETFDH):c.487+9T>C
|
|
|
NM_004453.4(ETFDH):c.488-12A>G
|
rs180889150
|
|
NM_004453.4(ETFDH):c.488-17T>A
|
|
|
NM_004453.4(ETFDH):c.488-18T>C
|
|
|
NM_004453.4(ETFDH):c.488-6T>C
|
|
|
NM_004453.4(ETFDH):c.492T>C (p.Leu164=)
|
rs1773968944
|
|
NM_004453.4(ETFDH):c.504T>C (p.Asn168=)
|
rs1773969287
|
|
NM_004453.4(ETFDH):c.510C>G (p.Gly170=)
|
rs747148665
|
|
NM_004453.4(ETFDH):c.51T>C (p.His17=)
|
|
|
NM_004453.4(ETFDH):c.534T>C (p.His178=)
|
|
|
NM_004453.4(ETFDH):c.540G>C (p.Val180=)
|
|
|
NM_004453.4(ETFDH):c.540G>T (p.Val180=)
|
rs1580400148
|
|
NM_004453.4(ETFDH):c.543C>T (p.Ser181=)
|
|
|
NM_004453.4(ETFDH):c.54C>T (p.Ala18=)
|
|
|
NM_004453.4(ETFDH):c.561A>G (p.Ala187=)
|
rs1318375497
|
|
NM_004453.4(ETFDH):c.567C>T (p.Ala189=)
|
rs1773972695
|
|
NM_004453.4(ETFDH):c.582A>G (p.Val194=)
|
rs2150306629
|
|
NM_004453.4(ETFDH):c.585C>T (p.Tyr195=)
|
|
|
NM_004453.4(ETFDH):c.603T>G (p.Ala201=)
|
|
|
NM_004453.4(ETFDH):c.606+10G>A
|
rs2150306651
|
|
NM_004453.4(ETFDH):c.606+10GTTTT[2]
|
rs745580994
|
|
NM_004453.4(ETFDH):c.606+13T>C
|
|
|
NM_004453.4(ETFDH):c.606+18T>G
|
|
|
NM_004453.4(ETFDH):c.607-12T>A
|
|
|
NM_004453.4(ETFDH):c.607-12dup
|
rs527944729
|
|
NM_004453.4(ETFDH):c.607-15T>A
|
|
|
NM_004453.4(ETFDH):c.607-20_607-19del
|
|
|
NM_004453.4(ETFDH):c.607-7T>C
|
|
|
NM_004453.4(ETFDH):c.607-8_607-7del
|
rs2150308959
|
|
NM_004453.4(ETFDH):c.607-9C>A
|
|
|
NM_004453.4(ETFDH):c.624T>C (p.Asp208=)
|
|
|
NM_004453.4(ETFDH):c.630T>C (p.Ser210=)
|
rs1456188483
|
|
NM_004453.4(ETFDH):c.639A>G (p.Gly213=)
|
|
|
NM_004453.4(ETFDH):c.657A>G (p.Val219=)
|
|
|
NM_004453.4(ETFDH):c.660G>C (p.Gly220=)
|
rs2150309010
|
|
NM_004453.4(ETFDH):c.672T>C (p.Asp224=)
|
|
|
NM_004453.4(ETFDH):c.675T>C (p.Gly225=)
|
|
|
NM_004453.4(ETFDH):c.684+11T>C
|
|
|
NM_004453.4(ETFDH):c.684+19T>C
|
|
|
NM_004453.4(ETFDH):c.684+3_684+9dup
|
rs773592713
|
|
NM_004453.4(ETFDH):c.684+7C>G
|
|
|
NM_004453.4(ETFDH):c.685-8C>G
|
|
|
NM_004453.4(ETFDH):c.685-9G>C
|
|
|
NM_004453.4(ETFDH):c.687A>G (p.Ala229=)
|
|
|
NM_004453.4(ETFDH):c.6G>C (p.Leu2=)
|
rs2150300532
|
|
NM_004453.4(ETFDH):c.705G>A (p.Leu235=)
|
|
|
NM_004453.4(ETFDH):c.709C>T (p.Leu237=)
|
rs2150310947
|
|
NM_004453.4(ETFDH):c.714T>C (p.His238=)
|
|
|
NM_004453.4(ETFDH):c.726A>G (p.Thr242=)
|
rs2150310952
|
|
NM_004453.4(ETFDH):c.750A>T (p.Gly250=)
|
rs2150310974
|
|
NM_004453.4(ETFDH):c.774G>A (p.Lys258=)
|
rs1014508077
|
|
NM_004453.4(ETFDH):c.783T>C (p.Asp261=)
|
|
|
NM_004453.4(ETFDH):c.789A>G (p.Arg263=)
|
|
|
NM_004453.4(ETFDH):c.78A>G (p.Leu26=)
|
|
|
NM_004453.4(ETFDH):c.807A>G (p.Gln269=)
|
|
|
NM_004453.4(ETFDH):c.813C>T (p.Tyr271=)
|
|
|
NM_004453.4(ETFDH):c.823C>T (p.Leu275=)
|
|
|
NM_004453.4(ETFDH):c.825G>A (p.Leu275=)
|
|
|
NM_004453.4(ETFDH):c.831+18T>C
|
|
|
NM_004453.4(ETFDH):c.831+19G>A
|
|
|
NM_004453.4(ETFDH):c.831+8G>A
|
|
|
NM_004453.4(ETFDH):c.832-13T>C
|
|
|
NM_004453.4(ETFDH):c.832-16C>T
|
|
|
NM_004453.4(ETFDH):c.832-4_832-3insA
|
|
|
NM_004453.4(ETFDH):c.834A>G (p.Leu278=)
|
rs761077518
|
|
NM_004453.4(ETFDH):c.867G>A (p.Gly289=)
|
rs1774343547
|
|
NM_004453.4(ETFDH):c.879C>T (p.His293=)
|
rs1774344228
|
|
NM_004453.4(ETFDH):c.888T>C (p.Gly296=)
|
rs1174948040
|
|
NM_004453.4(ETFDH):c.897G>A (p.Leu299=)
|
|
|
NM_004453.4(ETFDH):c.906T>C (p.His302=)
|
rs2150311696
|
|
NM_004453.4(ETFDH):c.909C>T (p.Thr303=)
|
|
|
NM_004453.4(ETFDH):c.90T>C (p.Ala30=)
|
|
|
NM_004453.4(ETFDH):c.912T>C (p.Tyr304=)
|
rs2150311706
|
|
NM_004453.4(ETFDH):c.924C>T (p.Phe308=)
|
rs1261212490
|
|
NM_004453.4(ETFDH):c.927C>G (p.Leu309=)
|
|
|
NM_004453.4(ETFDH):c.933T>C (p.His311=)
|
rs2150311727
|
|
NM_004453.4(ETFDH):c.936G>A (p.Leu312=)
|
|
|
NM_004453.4(ETFDH):c.939T>C (p.Asn313=)
|
rs2150311730
|
|
NM_004453.4(ETFDH):c.942A>G (p.Glu314=)
|
|
|
NM_004453.4(ETFDH):c.951C>G (p.Pro317=)
|
|
|
NM_004453.4(ETFDH):c.952C>T (p.Leu318=)
|
rs763002171
|
|
NM_004453.4(ETFDH):c.954A>G (p.Leu318=)
|
|
|
NM_004453.4(ETFDH):c.966T>C (p.Gly322=)
|
rs2150311745
|
|
NM_004453.4(ETFDH):c.972+10A>G
|
rs745409764
|
|
NM_004453.4(ETFDH):c.972+11T>A
|
|
|
NM_004453.4(ETFDH):c.972+11T>C
|
|
|
NM_004453.4(ETFDH):c.972+16A>G
|
|
|
NM_004453.4(ETFDH):c.972+16A>T
|
|
|
NM_004453.4(ETFDH):c.972+7T>A
|
rs1580414056
|
|
NM_004453.4(ETFDH):c.973-13G>A
|
|
|
NM_004453.4(ETFDH):c.973-14T>C
|
|
|
NM_004453.4(ETFDH):c.973-17_973-16del
|
|
|
NM_004453.4(ETFDH):c.973-19A>G
|
|
|
NM_004453.4(ETFDH):c.973-9A>T
|
|
|
NM_004453.4(ETFDH):c.975T>C (p.Val325=)
|
rs2150312198
|
|
NM_004453.4(ETFDH):c.978T>C (p.Gly326=)
|
|
|
NM_004453.4(ETFDH):c.981A>G (p.Leu327=)
|
rs2150312206
|
|
NM_004453.4(ETFDH):c.996A>G (p.Pro332=)
|
rs566071326
|
|
NM_004483.5(GCSH):c.132A>C (p.Gly44=)
|
rs1185522027
|
|
NM_004483.5(GCSH):c.132A>T (p.Gly44=)
|
rs1185522027
|
|
NM_004483.5(GCSH):c.246T>A (p.Val82=)
|
rs536733893
|
|
NM_004483.5(GCSH):c.292+10C>T
|
rs571999768
|
|
NM_004483.5(GCSH):c.292+7G>A
|
rs1972309218
|
|
NM_004483.5(GCSH):c.293-4T>C
|
rs1555529308
|
|
NM_004483.5(GCSH):c.318G>A (p.Val106=)
|
|
|
NM_004483.5(GCSH):c.375A>G (p.Glu125=)
|
rs868224309
|
|
NM_004483.5(GCSH):c.46C>T (p.Leu16=)
|
rs1231763519
|
|
NM_004577.4(PSPH):c.276-14A>G
|
|
|
NM_004577.4(PSPH):c.276-17T>C
|
|
|
NM_004577.4(PSPH):c.276-20T>G
|
|
|
NM_004577.4(PSPH):c.276-4G>C
|
|
|
NM_004577.4(PSPH):c.339G>A (p.Arg113=)
|
rs2116568145
|
|
NM_004577.4(PSPH):c.351G>A (p.Glu117=)
|
|
|
NM_004577.4(PSPH):c.369C>T (p.Leu123=)
|
rs773338634
|
|
NM_004577.4(PSPH):c.372T>C (p.Asn124=)
|
|
|
NM_004577.4(PSPH):c.390A>G (p.Val130=)
|
|
|
NM_004577.4(PSPH):c.408A>G (p.Lys136=)
|
|
|
NM_004577.4(PSPH):c.421+12A>T
|
rs2116565444
|
|
NM_004577.4(PSPH):c.421+20A>G
|
|
|
NM_004577.4(PSPH):c.421+20A>T
|
|
|
NM_004577.4(PSPH):c.422-14A>C
|
rs749619757
|
|
NM_004577.4(PSPH):c.422-4T>G
|
|
|
NM_004577.4(PSPH):c.432A>C (p.Ala144=)
|
|
|
NM_004577.4(PSPH):c.441T>C (p.Asp147=)
|
|
|
NM_004577.4(PSPH):c.450G>A (p.Gln150=)
|
rs2116515322
|
|
NM_004577.4(PSPH):c.489A>G (p.Lys163=)
|
rs2116514516
|
|
NM_004577.4(PSPH):c.540T>C (p.Gly180=)
|
|
|
NM_004577.4(PSPH):c.549T>C (p.Asp183=)
|
|
|
NM_004577.4(PSPH):c.570+12G>C
|
|
|
NM_004577.4(PSPH):c.570+14G>A
|
|
|
NM_004577.4(PSPH):c.570+19A>G
|
rs2116512576
|
|
NM_004577.4(PSPH):c.604A>C (p.Arg202=)
|
|
|
NM_004577.4(PSPH):c.651A>G (p.Val217=)
|
|
|
NM_004577.4(PSPH):c.672A>G (p.Glu224=)
|
|
|
NM_004937.3(CTNS):c.1002C>T (p.Thr334=)
|
|
|
NM_004937.3(CTNS):c.1014C>G (p.Leu338=)
|
|
|
NM_004937.3(CTNS):c.1020C>T (p.Val340=)
|
rs759909683
|
|
NM_004937.3(CTNS):c.1029C>A (p.Ile343=)
|
rs147428183
|
|
NM_004937.3(CTNS):c.1029C>T (p.Ile343=)
|
rs147428183
|
|
NM_004937.3(CTNS):c.1041C>G (p.Val347=)
|
rs779369414
|
|
NM_004937.3(CTNS):c.1041C>T (p.Val347=)
|
rs779369414
|
|
NM_004937.3(CTNS):c.1053C>T (p.Ile351=)
|
rs2142982938
|
|
NM_004937.3(CTNS):c.1059C>T (p.His353=)
|
|
|
NM_004937.3(CTNS):c.105G>A (p.Glu35=)
|
rs2150904680
|
|
NM_004937.3(CTNS):c.1077G>A (p.Lys359=)
|
rs2142983047
|
|
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)
|
rs560868487
|
|
NM_004937.3(CTNS):c.1086G>A (p.Gly362=)
|
rs1055176574
|
|
NM_004937.3(CTNS):c.1086G>T (p.Gly362=)
|
|
|
NM_004937.3(CTNS):c.117G>C (p.Ser39=)
|
rs765428193
|
|
NM_004937.3(CTNS):c.117G>T (p.Ser39=)
|
|
|
NM_004937.3(CTNS):c.12T>C (p.Asn4=)
|
rs550375830
|
|
NM_004937.3(CTNS):c.132C>T (p.Leu44=)
|
rs756058217
|
|
NM_004937.3(CTNS):c.135C>A (p.Thr45=)
|
|
|
NM_004937.3(CTNS):c.140+10T>C
|
|
|
NM_004937.3(CTNS):c.140+10_140+11del
|
rs755167662
|
|
NM_004937.3(CTNS):c.140+11G>A
|
|
|
NM_004937.3(CTNS):c.140+12G>C
|
|
|
NM_004937.3(CTNS):c.140+15C>T
|
rs2150904807
|
|
NM_004937.3(CTNS):c.140+19C>T
|
|
|
NM_004937.3(CTNS):c.140+20G>A
|
|
|
NM_004937.3(CTNS):c.140+9C>T
|
rs1567701450
|
|
NM_004937.3(CTNS):c.141-14C>T
|
|
|
NM_004937.3(CTNS):c.141-20T>C
|
|
|
NM_004937.3(CTNS):c.141-24_141-18del
|
|
|
NM_004937.3(CTNS):c.141-4A>G
|
rs1437667230
|
|
NM_004937.3(CTNS):c.141-8C>T
|
rs768912772
|
|
NM_004937.3(CTNS):c.150A>G (p.Leu50=)
|
|
|
NM_004937.3(CTNS):c.156A>G (p.Ala52=)
|
rs1597623923
|
|
NM_004937.3(CTNS):c.159C>T (p.Thr53=)
|
rs769818124
|
|
NM_004937.3(CTNS):c.162G>C (p.Leu54=)
|
|
|
NM_004937.3(CTNS):c.171T>G (p.Thr57=)
|
|
|
NM_004937.3(CTNS):c.180C>T (p.Ile60=)
|
|
|
NM_004937.3(CTNS):c.183A>G (p.Thr61=)
|
|
|
NM_004937.3(CTNS):c.198T>C (p.Asn66=)
|
|
|
NM_004937.3(CTNS):c.204T>C (p.Thr68=)
|
|
|
NM_004937.3(CTNS):c.219C>G (p.Pro73=)
|
|
|
NM_004937.3(CTNS):c.219C>T (p.Pro73=)
|
rs2150907083
|
|
NM_004937.3(CTNS):c.222T>C (p.Asp74=)
|
rs1597624144
|
|
NM_004937.3(CTNS):c.225+10C>A
|
rs2150907128
|
|
NM_004937.3(CTNS):c.225+12A>G
|
|
|
NM_004937.3(CTNS):c.225+20G>A
|
|
|
NM_004937.3(CTNS):c.225+7A>T
|
|
|
NM_004937.3(CTNS):c.225+9C>G
|
|
|
NM_004937.3(CTNS):c.226-11C>T
|
|
|
NM_004937.3(CTNS):c.226-14A>C
|
|
|
NM_004937.3(CTNS):c.226-15C>T
|
|
|
NM_004937.3(CTNS):c.226-6dup
|
|
|
NM_004937.3(CTNS):c.226-7C>G
|
|
|
NM_004937.3(CTNS):c.226-7C>T
|
rs2076091750
|
|
NM_004937.3(CTNS):c.226-8C>T
|
rs2150918919
|
|
NM_004937.3(CTNS):c.246G>A (p.Val82=)
|
rs2150918993
|
|
NM_004937.3(CTNS):c.288A>G (p.Gln96=)
|
|
|
NM_004937.3(CTNS):c.300T>C (p.Tyr100=)
|
rs376042415
|
|
NM_004937.3(CTNS):c.306T>C (p.His102=)
|
rs2076094603
|
|
NM_004937.3(CTNS):c.30C>A (p.Ile10=)
|
rs2075651822
|
|
NM_004937.3(CTNS):c.329+10C>T
|
rs2150919178
|
|
NM_004937.3(CTNS):c.329+13C>T
|
|
|
NM_004937.3(CTNS):c.329+14_329+15del
|
|
|
NM_004937.3(CTNS):c.330-16C>T
|
|
|
NM_004937.3(CTNS):c.330-18C>T
|
|
|
NM_004937.3(CTNS):c.330-20G>A
|
|
|
NM_004937.3(CTNS):c.330-9_330-7del
|
rs2150919428
|
|
NM_004937.3(CTNS):c.354C>T (p.Ile118=)
|
rs2150919502
|
|
NM_004937.3(CTNS):c.366C>T (p.Ala122=)
|
|
|
NM_004937.3(CTNS):c.372C>T (p.Ser124=)
|
|
|
NM_004937.3(CTNS):c.375C>T (p.Ile125=)
|
rs1277785045
|
|
NM_004937.3(CTNS):c.387G>A (p.Val129=)
|
rs2150919602
|
|
NM_004937.3(CTNS):c.40C>T (p.Leu14=)
|
|
|
NM_004937.3(CTNS):c.411C>T (p.Ala137=)
|
|
|
NM_004937.3(CTNS):c.426C>T (p.Phe142=)
|
rs2150919725
|
|
NM_004937.3(CTNS):c.441C>T (p.Ile147=)
|
rs2150919757
|
|
NM_004937.3(CTNS):c.447T>C (p.Asn149=)
|
|
|
NM_004937.3(CTNS):c.453G>A (p.Arg151=)
|
rs2150919797
|
|
NM_004937.3(CTNS):c.461+13G>A
|
|
|
NM_004937.3(CTNS):c.461+15C>T
|
|
|
NM_004937.3(CTNS):c.461+16G>C
|
|
|
NM_004937.3(CTNS):c.461+17T>C
|
|
|
NM_004937.3(CTNS):c.461+19T>A
|
|
|
NM_004937.3(CTNS):c.461+19T>C
|
|
|
NM_004937.3(CTNS):c.461+20G>A
|
|
|
NM_004937.3(CTNS):c.462-12C>T
|
|
|
NM_004937.3(CTNS):c.462-17C>T
|
|
|
NM_004937.3(CTNS):c.462-47_462-7del
|
|
|
NM_004937.3(CTNS):c.462-6C>T
|
|
|
NM_004937.3(CTNS):c.462-8C>A
|
|
|
NM_004937.3(CTNS):c.462-95_462-19del
|
|
|
NM_004937.3(CTNS):c.462-9C>T
|
|
|
NM_004937.3(CTNS):c.465C>T (p.Val155=)
|
|
|
NM_004937.3(CTNS):c.474G>A (p.Leu158=)
|
|
|
NM_004937.3(CTNS):c.477C>T (p.Ser159=)
|
rs2150922529
|
|
NM_004937.3(CTNS):c.486C>T (p.Phe162=)
|
rs1335640588
|
|
NM_004937.3(CTNS):c.489G>C (p.Val163=)
|
rs2150922571
|
|
NM_004937.3(CTNS):c.48C>T (p.Leu16=)
|
|
|
NM_004937.3(CTNS):c.513G>A (p.Val171=)
|
|
|
NM_004937.3(CTNS):c.525A>C (p.Val175=)
|
|
|
NM_004937.3(CTNS):c.531C>T (p.Asn177=)
|
rs2150922708
|
|
NM_004937.3(CTNS):c.537C>G (p.Gly179=)
|
rs1033509163
|
|
NM_004937.3(CTNS):c.537C>T (p.Gly179=)
|
|
|
NM_004937.3(CTNS):c.540C>T (p.Leu180=)
|
|
|
NM_004937.3(CTNS):c.552C>T (p.Pro184=)
|
rs2150922782
|
|
NM_004937.3(CTNS):c.555C>T (p.Tyr185=)
|
|
|
NM_004937.3(CTNS):c.561+12C>T
|
|
|
NM_004937.3(CTNS):c.561+15G>A
|
|
|
NM_004937.3(CTNS):c.561+18C>T
|
|
|
NM_004937.3(CTNS):c.561+7C>G
|
rs1230869706
|
|
NM_004937.3(CTNS):c.561+7C>T
|
|
|
NM_004937.3(CTNS):c.561+8C>G
|
rs2150922813
|
|
NM_004937.3(CTNS):c.561+8C>T
|
|
|
NM_004937.3(CTNS):c.562-15C>T
|
|
|
NM_004937.3(CTNS):c.562-17T>C
|
|
|
NM_004937.3(CTNS):c.562-18C>A
|
|
|
NM_004937.3(CTNS):c.562-4A>T
|
rs761366500
|
|
NM_004937.3(CTNS):c.562-8C>T
|
rs1194962259
|
|
NM_004937.3(CTNS):c.573C>T (p.Leu191=)
|
|
|
NM_004937.3(CTNS):c.603G>C (p.Val201=)
|
rs912410408
|
|
NM_004937.3(CTNS):c.606C>T (p.Asn202=)
|
rs2150923073
|
|
NM_004937.3(CTNS):c.61+10G>T
|
|
|
NM_004937.3(CTNS):c.61+17C>G
|
|
|
NM_004937.3(CTNS):c.61+19C>T
|
|
|
NM_004937.3(CTNS):c.61+8T>G
|
rs2150889028
|
|
NM_004937.3(CTNS):c.62-14T>G
|
|
|
NM_004937.3(CTNS):c.62-19T>C
|
|
|
NM_004937.3(CTNS):c.62-5T>C
|
|
|
NM_004937.3(CTNS):c.62-8C>T
|
rs2150904561
|
|
NM_004937.3(CTNS):c.636G>A (p.Ala212=)
|
|
|
NM_004937.3(CTNS):c.645C>T (p.Leu215=)
|
|
|
NM_004937.3(CTNS):c.649C>T (p.Leu217=)
|
|
|
NM_004937.3(CTNS):c.651G>A (p.Leu217=)
|
rs762581003
|
|
NM_004937.3(CTNS):c.651G>C (p.Leu217=)
|
rs762581003
|
|
NM_004937.3(CTNS):c.666G>A (p.Gln222=)
|
rs2076159145
|
|
NM_004937.3(CTNS):c.673C>T (p.Leu225=)
|
|
|
NM_004937.3(CTNS):c.675G>A (p.Leu225=)
|
|
|
NM_004937.3(CTNS):c.681+11C>T
|
|
|
NM_004937.3(CTNS):c.681+12C>G
|
|
|
NM_004937.3(CTNS):c.681+15G>T
|
|
|
NM_004937.3(CTNS):c.681+16dup
|
|
|
NM_004937.3(CTNS):c.681+17C>T
|
|
|
NM_004937.3(CTNS):c.681+19C>A
|
|
|
NM_004937.3(CTNS):c.682-10T>A
|
|
|
NM_004937.3(CTNS):c.682-11C>T
|
|
|
NM_004937.3(CTNS):c.682-16C>T
|
|
|
NM_004937.3(CTNS):c.682-5C>A
|
|
|
NM_004937.3(CTNS):c.682-6C>T
|
|
|
NM_004937.3(CTNS):c.685G>T (p.Gly229Cys)
|
rs200336280
|
|
NM_004937.3(CTNS):c.690C>G (p.Gly230=)
|
|
|
NM_004937.3(CTNS):c.696C>G (p.Arg232=)
|
rs529381598
|
|
NM_004937.3(CTNS):c.699G>A (p.Val233=)
|
rs2076195866
|
|
NM_004937.3(CTNS):c.711C>T (p.Ala237=)
|
|
|
NM_004937.3(CTNS):c.721C>T (p.Leu241=)
|
rs775072561
|
|
NM_004937.3(CTNS):c.729C>G (p.Leu243=)
|
rs762142619
|
|
NM_004937.3(CTNS):c.732G>T (p.Ala244=)
|
rs199518474
|
|
NM_004937.3(CTNS):c.738C>G (p.Leu246=)
|
rs2076197055
|
|
NM_004937.3(CTNS):c.741C>T (p.Phe247=)
|
|
|
NM_004937.3(CTNS):c.751A>G (p.Thr251Ala)
|
|
|
NM_004937.3(CTNS):c.777G>A (p.Val259=)
|
|
|
NM_004937.3(CTNS):c.783G>T (p.Thr261=)
|
|
|
NM_004937.3(CTNS):c.78C>G (p.Leu26=)
|
|
|
NM_004937.3(CTNS):c.798C>A (p.Leu266=)
|
rs1567714017
|
|
NM_004937.3(CTNS):c.798C>T (p.Leu266=)
|
rs1567714017
|
|
NM_004937.3(CTNS):c.810C>G (p.Ser270=)
|
|
|
NM_004937.3(CTNS):c.819G>A (p.Lys273=)
|
rs2150925362
|
|
NM_004937.3(CTNS):c.81T>C (p.Thr27=)
|
|
|
NM_004937.3(CTNS):c.825A>G (p.Ala275=)
|
rs904979100
|
|
NM_004937.3(CTNS):c.831G>A (p.Thr277=)
|
rs533147998
|
|
NM_004937.3(CTNS):c.834G>C (p.Leu278=)
|
|
|
NM_004937.3(CTNS):c.834G>T (p.Leu278=)
|
rs139519275
|
|
NM_004937.3(CTNS):c.843T>C (p.Tyr281=)
|
rs2076200273
|
|
NM_004937.3(CTNS):c.852+10G>A
|
|
|
NM_004937.3(CTNS):c.852+14C>G
|
|
|
NM_004937.3(CTNS):c.852+14C>T
|
|
|
NM_004937.3(CTNS):c.852+14_852+15del
|
|
|
NM_004937.3(CTNS):c.852+14_852+34del
|
|
|
NM_004937.3(CTNS):c.852+17G>A
|
|
|
NM_004937.3(CTNS):c.852+19T>A
|
|
|
NM_004937.3(CTNS):c.852+20C>T
|
|
|
NM_004937.3(CTNS):c.853-10_853-7del
|
rs1198120476
|
|
NM_004937.3(CTNS):c.853-11G>A
|
|
|
NM_004937.3(CTNS):c.853-13C>G
|
|
|
NM_004937.3(CTNS):c.853-16C>T
|
|
|
NM_004937.3(CTNS):c.853-18_853-7del
|
|
|
NM_004937.3(CTNS):c.853-6G>T
|
rs775425630
|
|
NM_004937.3(CTNS):c.853-8T>C
|
|
|
NM_004937.3(CTNS):c.858C>T (p.Tyr286=)
|
|
|
NM_004937.3(CTNS):c.900C>T (p.Gly300=)
|
|
|
NM_004937.3(CTNS):c.909C>T (p.Leu303=)
|
rs1252160181
|
|
NM_004937.3(CTNS):c.90T>C (p.Pro30=)
|
rs2075870364
|
|
NM_004937.3(CTNS):c.912G>A (p.Leu304=)
|
|
|
NM_004937.3(CTNS):c.918C>T (p.Phe306=)
|
|
|
NM_004937.3(CTNS):c.930C>T (p.Ser310=)
|
rs1262456716
|
|
NM_004937.3(CTNS):c.936C>T (p.Ser312=)
|
|
|
NM_004937.3(CTNS):c.93C>T (p.Val31=)
|
rs772569260
|
|
NM_004937.3(CTNS):c.954C>T (p.Leu318=)
|
rs2142981648
|
|
NM_004937.3(CTNS):c.969C>T (p.Asn323=)
|
rs121908128
|
|
NM_004937.3(CTNS):c.970+10C>T
|
|
|
NM_004937.3(CTNS):c.970+15_970+21del
|
|
|
NM_004937.3(CTNS):c.970+9G>A
|
rs1159271531
|
|
NM_004937.3(CTNS):c.970+9G>T
|
|
|
NM_004937.3(CTNS):c.971-12G>C
|
|
|
NM_004937.3(CTNS):c.971-13C>T
|
|
|
NM_004937.3(CTNS):c.971-15C>T
|
|
|
NM_004937.3(CTNS):c.971-16C>G
|
|
|
NM_004937.3(CTNS):c.971-16C>T
|
|
|
NM_004937.3(CTNS):c.971-17C>T
|
|
|
NM_004937.3(CTNS):c.971-6T>G
|
|
|
NM_004937.3(CTNS):c.971-8_971-6del
|
|
|
NM_004937.3(CTNS):c.972C>T (p.Asp324=)
|
|
|
NM_004937.3(CTNS):c.975G>A (p.Gln325=)
|
|
|
NM_004937.3(CTNS):c.981G>T (p.Thr327=)
|
|
|
NM_004937.3(CTNS):c.987C>T (p.Ile329=)
|
rs2142982610
|
|
NM_004937.3(CTNS):c.999A>G (p.Pro333=)
|
|
|
NM_004937.3(CTNS):c.99G>A (p.Lys33=)
|
rs2150904661
|
|
NM_004974.4(KCNA2):c.1056T>C (p.Asp352=)
|
|
|
NM_004974.4(KCNA2):c.1074C>T (p.Phe358=)
|
rs749482104
|
|
NM_004974.4(KCNA2):c.1080C>T (p.Ser360=)
|
rs1347753369
|
|
NM_004974.4(KCNA2):c.1110C>G (p.Val370=)
|
rs746352821
|
|
NM_004974.4(KCNA2):c.1119A>G (p.Thr373=)
|
|
|
NM_004974.4(KCNA2):c.1149T>C (p.Thr383=)
|
|
|
NM_004974.4(KCNA2):c.1158G>A (p.Gly386=)
|
|
|
NM_004974.4(KCNA2):c.1179A>C (p.Leu393=)
|
|
|
NM_004974.4(KCNA2):c.120A>G (p.Ser40=)
|
rs1570754076
|
|
NM_004974.4(KCNA2):c.1215G>C (p.Pro405=)
|
|
|
NM_004974.4(KCNA2):c.1254C>T (p.His418=)
|
|
|
NM_004974.4(KCNA2):c.1256G>T (p.Arg419Leu)
|
|
|
NM_004974.4(KCNA2):c.1275A>G (p.Glu425=)
|
rs1468166534
|
|
NM_004974.4(KCNA2):c.1288T>C (p.Leu430=)
|
|
|
NM_004974.4(KCNA2):c.12C>T (p.Ala4=)
|
rs1570754202
|
|
NM_004974.4(KCNA2):c.1320C>T (p.Ser440=)
|
|
|
NM_004974.4(KCNA2):c.1338A>G (p.Lys446=)
|
|
|
NM_004974.4(KCNA2):c.1380G>T (p.Glu460Asp)
|
rs1649445890
|
|
NM_004974.4(KCNA2):c.1383C>T (p.Ile461=)
|
|
|
NM_004974.4(KCNA2):c.1389G>A (p.Glu463=)
|
|
|
NM_004974.4(KCNA2):c.1395A>G (p.Val465=)
|
|
|
NM_004974.4(KCNA2):c.1416T>C (p.Phe472=)
|
rs1181780424
|
|
NM_004974.4(KCNA2):c.1422G>A (p.Glu474=)
|
rs2101394728
|
|
NM_004974.4(KCNA2):c.1431G>A (p.Leu477=)
|
|
|
NM_004974.4(KCNA2):c.1464C>T (p.Asn488=)
|
|
|
NM_004974.4(KCNA2):c.1499G>A (p.Ter500=)
|
|
|
NM_004974.4(KCNA2):c.150C>A (p.Thr50=)
|
|
|
NM_004974.4(KCNA2):c.151T>C (p.Leu51=)
|
rs2101403936
|
|
NM_004974.4(KCNA2):c.15C>T (p.Thr5=)
|
|
|
NM_004974.4(KCNA2):c.165A>G (p.Pro55=)
|
rs2101403846
|
|
NM_004974.4(KCNA2):c.171C>T (p.Thr57=)
|
|
|
NM_004974.4(KCNA2):c.204C>T (p.Tyr68=)
|
|
|
NM_004974.4(KCNA2):c.216C>T (p.Leu72=)
|
|
|
NM_004974.4(KCNA2):c.231T>C (p.Phe77=)
|
|
|
NM_004974.4(KCNA2):c.246C>T (p.Arg82=)
|
|
|
NM_004974.4(KCNA2):c.261C>T (p.Ala87=)
|
rs749146957
|
|
NM_004974.4(KCNA2):c.267G>A (p.Leu89=)
|
|
|
NM_004974.4(KCNA2):c.276C>T (p.Tyr92=)
|
rs1553181436
|
|
NM_004974.4(KCNA2):c.282A>G (p.Ser94=)
|
rs1649510855
|
|
NM_004974.4(KCNA2):c.315C>T (p.Pro105=)
|
rs2101402754
|
|
NM_004974.4(KCNA2):c.340C>A (p.Arg114=)
|
|
|
NM_004974.4(KCNA2):c.341G>A (p.Arg114Gln)
|
|
|
NM_004974.4(KCNA2):c.365C>T (p.Ala122Val)
|
|
|
NM_004974.4(KCNA2):c.384A>G (p.Glu128=)
|
|
|
NM_004974.4(KCNA2):c.468A>T (p.Pro156=)
|
|
|
NM_004974.4(KCNA2):c.480G>T (p.Gly160=)
|
|
|
NM_004974.4(KCNA2):c.522G>C (p.Leu174=)
|
rs1649495668
|
|
NM_004974.4(KCNA2):c.531T>A (p.Ile177=)
|
|
|
NM_004974.4(KCNA2):c.534C>A (p.Val178=)
|
|
|
NM_004974.4(KCNA2):c.536G>A (p.Ser179Asn)
|
rs2101401302
|
|
NM_004974.4(KCNA2):c.537C>T (p.Ser179=)
|
|
|
NM_004974.4(KCNA2):c.546G>A (p.Leu182=)
|
rs2101401198
|
|
NM_004974.4(KCNA2):c.553T>C (p.Leu185=)
|
|
|
NM_004974.4(KCNA2):c.576T>C (p.Asn192=)
|
rs1438869224
|
|
NM_004974.4(KCNA2):c.582C>T (p.Asp194=)
|
rs2101400875
|
|
NM_004974.4(KCNA2):c.611C>T (p.Thr204Ile)
|
rs1421276694
|
|
NM_004974.4(KCNA2):c.630C>T (p.Ile210=)
|
rs761112803
|
|
NM_004974.4(KCNA2):c.663T>G (p.Pro221=)
|
|
|
NM_004974.4(KCNA2):c.684C>T (p.Leu228=)
|
|
|
NM_004974.4(KCNA2):c.687C>T (p.Cys229=)
|
|
|
NM_004974.4(KCNA2):c.69T>C (p.Tyr23=)
|
|
|
NM_004974.4(KCNA2):c.711C>T (p.Phe237=)
|
rs776028782
|
|
NM_004974.4(KCNA2):c.717G>A (p.Val239=)
|
|
|
NM_004974.4(KCNA2):c.747C>T (p.Gly249=)
|
|
|
NM_004974.4(KCNA2):c.789C>A (p.Ile263=)
|
rs2101399331
|
|
NM_004974.4(KCNA2):c.808C>T (p.Leu270=)
|
|
|
NM_004974.4(KCNA2):c.851G>A (p.Gly284Asp)
|
rs1246925002
|
|
NM_004974.4(KCNA2):c.852C>A (p.Gly284=)
|
rs779997835
|
|
NM_004974.4(KCNA2):c.87C>T (p.His29=)
|
rs2101404284
|
|
NM_004974.4(KCNA2):c.888C>T (p.Ile296=)
|
|
|
NM_004974.4(KCNA2):c.891G>C (p.Arg297=)
|
|
|
NM_004974.4(KCNA2):c.918G>A (p.Lys306=)
|
|
|
NM_004974.4(KCNA2):c.933C>T (p.Ser311=)
|
rs1649470586
|
|
NM_004974.4(KCNA2):c.939T>C (p.Gly313=)
|
|
|
NM_004974.4(KCNA2):c.957G>A (p.Gln319=)
|
rs2101398216
|
|
NM_004974.4(KCNA2):c.960C>G (p.Thr320=)
|
|
|
NM_004974.4(KCNA2):c.982T>C (p.Leu328=)
|
|
|
NM_004974.4(KCNA2):c.991C>T (p.Leu331=)
|
rs2101397993
|
|
NM_004975.4(KCNB1):c.1000C>T (p.Leu334Phe)
|
|
|
NM_004975.4(KCNB1):c.1002C>G (p.Leu334=)
|
|
|
NM_004975.4(KCNB1):c.102C>T (p.Arg34=)
|
rs2122803849
|
|
NM_004975.4(KCNB1):c.1062G>A (p.Lys354=)
|
|
|
NM_004975.4(KCNB1):c.1080G>A (p.Lys360=)
|
|
|
NM_004975.4(KCNB1):c.108C>T (p.Asn36=)
|
|
|
NM_004975.4(KCNB1):c.1119C>T (p.Ile373=)
|
rs2146813780
|
|
NM_004975.4(KCNB1):c.1137G>A (p.Gly379=)
|
rs372561609
|
|
NM_004975.4(KCNB1):c.1146C>T (p.Asp382=)
|
|
|
NM_004975.4(KCNB1):c.1161T>C (p.Thr387=)
|
rs1984247753
|
|
NM_004975.4(KCNB1):c.1170G>A (p.Gly390=)
|
|
|
NM_004975.4(KCNB1):c.1206C>G (p.Val402=)
|
rs2146813631
|
|
NM_004975.4(KCNB1):c.1218T>C (p.Ala406=)
|
|
|
NM_004975.4(KCNB1):c.1236C>T (p.Ile412=)
|
|
|
NM_004975.4(KCNB1):c.1288A>G (p.Ile430Val)
|
|
|
NM_004975.4(KCNB1):c.12C>T (p.Gly4=)
|
|
|
NM_004975.4(KCNB1):c.1338A>T (p.Val446=)
|
rs2146813471
|
|
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr)
|
rs1984239884
|
|
NM_004975.4(KCNB1):c.1344G>A (p.Met448Ile)
|
rs1984239766
|
|
NM_004975.4(KCNB1):c.1347C>T (p.Asn449=)
|
|
|
NM_004975.4(KCNB1):c.1393G>A (p.Val465Ile)
|
rs1294696493
|
|
NM_004975.4(KCNB1):c.1401A>T (p.Lys467Asn)
|
|
|
NM_004975.4(KCNB1):c.1418G>A (p.Gly473Asp)
|
|
|
NM_004975.4(KCNB1):c.1485G>A (p.Leu495=)
|
|
|
NM_004975.4(KCNB1):c.1518C>G (p.Thr506=)
|
|
|
NM_004975.4(KCNB1):c.1545C>T (p.Ala515=)
|
rs2146813194
|
|
NM_004975.4(KCNB1):c.154C>T (p.Leu52=)
|
|
|
NM_004975.4(KCNB1):c.1575C>T (p.Asn525=)
|
|
|
NM_004975.4(KCNB1):c.1581G>A (p.Gln527=)
|
|
|
NM_004975.4(KCNB1):c.1593C>T (p.Asp531=)
|
|
|
NM_004975.4(KCNB1):c.1597T>C (p.Tyr533His)
|
rs1984228232
|
|
NM_004975.4(KCNB1):c.1617C>T (p.Thr539=)
|
rs2146813087
|
|
NM_004975.4(KCNB1):c.1629C>T (p.Pro543=)
|
|
|
NM_004975.4(KCNB1):c.1641C>T (p.Thr547=)
|
rs1490389656
|
|
NM_004975.4(KCNB1):c.1692T>C (p.Ser564=)
|
rs2146812969
|
|
NM_004975.4(KCNB1):c.1704C>G (p.Pro568=)
|
rs539550218
|
|
NM_004975.4(KCNB1):c.1704C>T (p.Pro568=)
|
rs539550218
|
|
NM_004975.4(KCNB1):c.1738A>G (p.Ile580Val)
|
|
|
NM_004975.4(KCNB1):c.1748G>A (p.Arg583Gln)
|
|
|
NM_004975.4(KCNB1):c.1800G>A (p.Glu600=)
|
rs1290919811
|
|
NM_004975.4(KCNB1):c.1839C>T (p.Pro613=)
|
|
|
NM_004975.4(KCNB1):c.183C>T (p.Arg61=)
|
|
|
NM_004975.4(KCNB1):c.1851G>A (p.Gly617=)
|
rs2146812770
|
|
NM_004975.4(KCNB1):c.1863C>T (p.Ala621=)
|
rs2146812733
|
|
NM_004975.4(KCNB1):c.1869A>G (p.Glu623=)
|
|
|
NM_004975.4(KCNB1):c.1879_1880delinsTT (p.Arg627Leu)
|
rs2146812716
|
|
NM_004975.4(KCNB1):c.1883G>A (p.Gly628Glu)
|
|
|
NM_004975.4(KCNB1):c.1891G>A (p.Gly631Ser)
|
|
|
NM_004975.4(KCNB1):c.1891G>T (p.Gly631Cys)
|
rs1433173706
|
|
NM_004975.4(KCNB1):c.1896C>T (p.Ala632=)
|
rs1420669551
|
|
NM_004975.4(KCNB1):c.1926C>T (p.Pro642=)
|
|
|
NM_004975.4(KCNB1):c.1951A>G (p.Ser651Gly)
|
|
|
NM_004975.4(KCNB1):c.1971del (p.Lys658fs)
|
|
|
NM_004975.4(KCNB1):c.1973A>G (p.Lys658Arg)
|
|
|
NM_004975.4(KCNB1):c.2008C>T (p.Arg670Ter)
|
rs1984206797
|
|
NM_004975.4(KCNB1):c.203C>A (p.Ser68Ter)
|
|
|
NM_004975.4(KCNB1):c.2040C>T (p.Asp680=)
|
|
|
NM_004975.4(KCNB1):c.2067G>T (p.Gly689=)
|
|
|
NM_004975.4(KCNB1):c.2096G>A (p.Gly699Glu)
|
|
|
NM_004975.4(KCNB1):c.2097G>T (p.Gly699=)
|
rs749718924
|
|
NM_004975.4(KCNB1):c.2103T>C (p.Ala701=)
|
|
|
NM_004975.4(KCNB1):c.2116G>T (p.Ala706Ser)
|
rs779750227
|
|
NM_004975.4(KCNB1):c.2118T>C (p.Ala706=)
|
rs2146812300
|
|
NM_004975.4(KCNB1):c.2124G>A (p.Leu708=)
|
rs1207155153
|
|
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
|
|
|
NM_004975.4(KCNB1):c.2151T>C (p.Ala717=)
|
rs2146812219
|
|
NM_004975.4(KCNB1):c.2201C>G (p.Pro734Arg)
|
|
|
NM_004975.4(KCNB1):c.2201C>T (p.Pro734Leu)
|
|
|
NM_004975.4(KCNB1):c.2202C>A (p.Pro734=)
|
|
|
NM_004975.4(KCNB1):c.2206C>A (p.Arg736=)
|
|
|
NM_004975.4(KCNB1):c.2235G>A (p.Ala745=)
|
|
|
NM_004975.4(KCNB1):c.2238C>T (p.Phe746=)
|
|
|
NM_004975.4(KCNB1):c.2250G>C (p.Ala750=)
|
rs368736609
|
|
NM_004975.4(KCNB1):c.2267T>C (p.Ile756Thr)
|
rs1239521037
|
|
NM_004975.4(KCNB1):c.2274A>T (p.Ala758=)
|
|
|
NM_004975.4(KCNB1):c.228C>T (p.Tyr76=)
|
|
|
NM_004975.4(KCNB1):c.2298G>C (p.Leu766=)
|
|
|
NM_004975.4(KCNB1):c.2312A>T (p.Asp771Val)
|
rs1304300872
|
|
NM_004975.4(KCNB1):c.2313C>T (p.Asp771=)
|
|
|
NM_004975.4(KCNB1):c.2319C>T (p.Ser773=)
|
|
|
NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg)
|
rs530927636
|
|
NM_004975.4(KCNB1):c.2324C>T (p.Pro775Leu)
|
|
|
NM_004975.4(KCNB1):c.2325C>G (p.Pro775=)
|
rs778951965
|
|
NM_004975.4(KCNB1):c.2330G>T (p.Ser777Ile)
|
|
|
NM_004975.4(KCNB1):c.2340G>A (p.Gly780=)
|
rs1410171749
|
|
NM_004975.4(KCNB1):c.2370A>G (p.Thr790=)
|
rs1411571280
|
|
NM_004975.4(KCNB1):c.2412C>A (p.Thr804=)
|
rs1984177695
|
|
NM_004975.4(KCNB1):c.2415C>T (p.Ser805=)
|
rs2146811802
|
|
NM_004975.4(KCNB1):c.243C>T (p.Asn81=)
|
rs1295557969
|
|
NM_004975.4(KCNB1):c.244G>A (p.Glu82Lys)
|
|
|
NM_004975.4(KCNB1):c.2529G>A (p.Val843=)
|
rs1233867057
|
|
NM_004975.4(KCNB1):c.2538G>A (p.Gly846=)
|
|
|
NM_004975.4(KCNB1):c.2540G>C (p.Gly847Ala)
|
|
|
NM_004975.4(KCNB1):c.2553A>G (p.Gly851=)
|
|
|
NM_004975.4(KCNB1):c.2556C>T (p.Ser852=)
|
rs2146811529
|
|
NM_004975.4(KCNB1):c.264C>T (p.His88=)
|
|
|
NM_004975.4(KCNB1):c.267G>A (p.Pro89=)
|
|
|
NM_004975.4(KCNB1):c.270C>A (p.Gly90=)
|
|
|
NM_004975.4(KCNB1):c.270C>T (p.Gly90=)
|
|
|
NM_004975.4(KCNB1):c.315C>T (p.His105=)
|
rs775196693
|
|
NM_004975.4(KCNB1):c.336G>A (p.Ala112=)
|
|
|
NM_004975.4(KCNB1):c.336G>T (p.Ala112=)
|
|
|
NM_004975.4(KCNB1):c.33C>A (p.Arg11=)
|
rs943931190
|
|
NM_004975.4(KCNB1):c.357C>G (p.Leu119=)
|
rs773968834
|
|
NM_004975.4(KCNB1):c.357C>T (p.Leu119=)
|
rs773968834
|
|
NM_004975.4(KCNB1):c.372C>T (p.Ile124=)
|
rs147498424
|
|
NM_004975.4(KCNB1):c.426G>A (p.Glu142=)
|
rs1440280154
|
|
NM_004975.4(KCNB1):c.456C>G (p.Ala152=)
|
|
|
NM_004975.4(KCNB1):c.45G>C (p.Ser15=)
|
rs1980529873
|
|
NM_004975.4(KCNB1):c.461C>T (p.Thr154Ile)
|
rs1980513297
|
|
NM_004975.4(KCNB1):c.466C>A (p.Arg156=)
|
|
|
NM_004975.4(KCNB1):c.472C>A (p.Arg158=)
|
rs1278790809
|
|
NM_004975.4(KCNB1):c.474G>C (p.Arg158=)
|
|
|
NM_004975.4(KCNB1):c.477A>G (p.Glu159=)
|
rs984041865
|
|
NM_004975.4(KCNB1):c.489C>T (p.Phe163=)
|
rs767078520
|
|
NM_004975.4(KCNB1):c.505G>A (p.Ala169Thr)
|
|
|
NM_004975.4(KCNB1):c.537G>T (p.Leu179=)
|
|
|
NM_004975.4(KCNB1):c.567+12A>T
|
rs2122803009
|
|
NM_004975.4(KCNB1):c.567+8T>G
|
|
|
NM_004975.4(KCNB1):c.568-10C>T
|
rs1601072100
|
|
NM_004975.4(KCNB1):c.5C>A (p.Pro2Gln)
|
|
|
NM_004975.4(KCNB1):c.603C>T (p.Leu201=)
|
|
|
NM_004975.4(KCNB1):c.606C>T (p.Ser202=)
|
rs2146814354
|
|
NM_004975.4(KCNB1):c.615C>T (p.Ala205=)
|
rs1601072012
|
|
NM_004975.4(KCNB1):c.648C>T (p.Ser216=)
|
|
|
NM_004975.4(KCNB1):c.651C>G (p.Leu217=)
|
|
|
NM_004975.4(KCNB1):c.666G>A (p.Gln222=)
|
|
|
NM_004975.4(KCNB1):c.66G>A (p.Glu22=)
|
rs745635029
|
|
NM_004975.4(KCNB1):c.6G>A (p.Pro2=)
|
|
|
NM_004975.4(KCNB1):c.702C>G (p.Ala234=)
|
rs753634361
|
|
NM_004975.4(KCNB1):c.729G>A (p.Glu243=)
|
rs2146814204
|
|
NM_004975.4(KCNB1):c.72G>A (p.Val24=)
|
|
|
NM_004975.4(KCNB1):c.732C>T (p.Tyr244=)
|
|
|
NM_004975.4(KCNB1):c.750C>T (p.Ser250=)
|
rs2146814173
|
|
NM_004975.4(KCNB1):c.753G>A (p.Ser251=)
|
|
|
NM_004975.4(KCNB1):c.789T>C (p.Asn263=)
|
|
|
NM_004975.4(KCNB1):c.790G>A (p.Ala264Thr)
|
|
|
NM_004975.4(KCNB1):c.813G>A (p.Leu271=)
|
rs763166574
|
|
NM_004975.4(KCNB1):c.816A>G (p.Pro272=)
|
|
|
NM_004975.4(KCNB1):c.819C>T (p.Tyr273=)
|
rs2146814097
|
|
NM_004975.4(KCNB1):c.822T>C (p.Tyr274=)
|
|
|
NM_004975.4(KCNB1):c.831T>C (p.Ile277=)
|
|
|
NM_004975.4(KCNB1):c.864A>G (p.Gln288=)
|
rs2146814058
|
|
NM_004975.4(KCNB1):c.92G>C (p.Arg31Pro)
|
rs2122803896
|
|
NM_004975.4(KCNB1):c.939C>T (p.His313=)
|
rs1304387636
|
|
NM_004975.4(KCNB1):c.990G>A (p.Glu330=)
|
rs1131691489
|
|
NM_004975.4(KCNB1):c.996C>T (p.Gly332=)
|
|
|
NM_005050.4(ABCD4):c.1028+19C>G
|
|
|
NM_005050.4(ABCD4):c.1028+20C>A
|
rs2139899171
|
|
NM_005050.4(ABCD4):c.1028+8C>T
|
|
|
NM_005050.4(ABCD4):c.1028+9G>T
|
|
|
NM_005050.4(ABCD4):c.1029-14C>G
|
|
|
NM_005050.4(ABCD4):c.1043G>T (p.Arg348Leu)
|
rs147100216
|
|
NM_005050.4(ABCD4):c.1050G>A (p.Thr350=)
|
|
|
NM_005050.4(ABCD4):c.1119-20C>T
|
|
|
NM_005050.4(ABCD4):c.1188C>A (p.Ala396=)
|
|
|
NM_005050.4(ABCD4):c.1194C>T (p.Ser398=)
|
|
|
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)
|
rs200761248
|
|
NM_005050.4(ABCD4):c.1327+9C>A
|
|
|
NM_005050.4(ABCD4):c.1328-18T>C
|
|
|
NM_005050.4(ABCD4):c.1328-19G>A
|
rs376137295
|
|
NM_005050.4(ABCD4):c.1347G>A (p.Thr449=)
|
|
|
NM_005050.4(ABCD4):c.1356G>T (p.Gly452=)
|
|
|
NM_005050.4(ABCD4):c.1419+15G>A
|
|
|
NM_005050.4(ABCD4):c.1431C>A (p.Pro477=)
|
|
|
NM_005050.4(ABCD4):c.1456+9G>T
|
|
|
NM_005050.4(ABCD4):c.1457-18G>A
|
|
|
NM_005050.4(ABCD4):c.1467T>A (p.Asp489Glu)
|
|
|
NM_005050.4(ABCD4):c.1507-4A>G
|
|
|
NM_005050.4(ABCD4):c.1559+13C>T
|
|
|
NM_005050.4(ABCD4):c.1559+16G>A
|
|
|
NM_005050.4(ABCD4):c.158-14C>T
|
|
|
NM_005050.4(ABCD4):c.1605C>A (p.Ala535=)
|
|
|
NM_005050.4(ABCD4):c.1632C>T (p.Tyr544=)
|
|
|
NM_005050.4(ABCD4):c.1637-15G>T
|
rs2079892790
|
|
NM_005050.4(ABCD4):c.1637-6C>G
|
|
|
NM_005050.4(ABCD4):c.1695C>T (p.Ile565=)
|
|
|
NM_005050.4(ABCD4):c.286-10C>G
|
|
|
NM_005050.4(ABCD4):c.342C>T (p.Asp114=)
|
|
|
NM_005050.4(ABCD4):c.38+16G>A
|
|
|
NM_005050.4(ABCD4):c.38+18G>A
|
|
|
NM_005050.4(ABCD4):c.39-19C>T
|
|
|
NM_005050.4(ABCD4):c.426-11A>G
|
rs2140018313
|
|
NM_005050.4(ABCD4):c.426-4C>G
|
rs765378243
|
|
NM_005050.4(ABCD4):c.432G>A (p.Gln144=)
|
|
|
NM_005050.4(ABCD4):c.497T>C (p.Ile166Thr)
|
|
|
NM_005050.4(ABCD4):c.528C>T (p.Tyr176=)
|
|
|
NM_005050.4(ABCD4):c.537C>T (p.Phe179=)
|
|
|
NM_005050.4(ABCD4):c.542+20C>G
|
rs2140013486
|
|
NM_005050.4(ABCD4):c.543-11C>G
|
|
|
NM_005050.4(ABCD4):c.543-17CT[3]
|
|
|
NM_005050.4(ABCD4):c.543-17CT[4]
|
|
|
NM_005050.4(ABCD4):c.573C>T (p.Phe191=)
|
|
|
NM_005050.4(ABCD4):c.57A>G (p.Gln19=)
|
rs574817590
|
|
NM_005050.4(ABCD4):c.669-6G>A
|
|
|
NM_005050.4(ABCD4):c.810G>A (p.Leu270=)
|
|
|
NM_005050.4(ABCD4):c.814+13G>A
|
|
|
NM_005050.4(ABCD4):c.816C>T (p.Ile272=)
|
|
|
NM_005050.4(ABCD4):c.861T>G (p.Val287=)
|
|
|
NM_005050.4(ABCD4):c.927G>A (p.Leu309=)
|
|
|
NM_005050.4(ABCD4):c.930C>T (p.Val310=)
|
|
|
NM_005050.4(ABCD4):c.936+20A>C
|
|
|
NM_005050.4(ABCD4):c.936+20A>G
|
|
|
NM_005050.4(ABCD4):c.996G>C (p.Thr332=)
|
|
|
NM_005050.4(ABCD4):c.9C>T (p.Val3=)
|
|
|
NM_005271.5(GLUD1):c.1026T>C (p.Gly342=)
|
|
|
NM_005271.5(GLUD1):c.108G>A (p.Gln36=)
|
|
|
NM_005271.5(GLUD1):c.1122C>T (p.Ala374=)
|
|
|
NM_005271.5(GLUD1):c.1197+20C>G
|
|
|
NM_005271.5(GLUD1):c.1209A>G (p.Glu403=)
|
|
|
NM_005271.5(GLUD1):c.1279-19G>T
|
|
|
NM_005271.5(GLUD1):c.133C>T (p.Leu45=)
|
rs2133875409
|
|
NM_005271.5(GLUD1):c.1344T>C (p.His448=)
|
rs1845866673
|
|
NM_005271.5(GLUD1):c.1454T>C (p.Ile485Thr)
|
rs2133788934
|
|
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
|
|
|
NM_005271.5(GLUD1):c.1495-14C>A
|
rs2133777461
|
|
NM_005271.5(GLUD1):c.1557+12G>A
|
rs201872390
|
|
NM_005271.5(GLUD1):c.1593A>T (p.Gly531=)
|
|
|
NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)
|
|
|
NM_005271.5(GLUD1):c.1647G>C (p.Val549=)
|
|
|
NM_005271.5(GLUD1):c.174C>A (p.Ala58=)
|
|
|
NM_005271.5(GLUD1):c.273C>T (p.Thr91=)
|
|
|
NM_005271.5(GLUD1):c.297G>C (p.Arg99=)
|
|
|
NM_005271.5(GLUD1):c.406C>A (p.Arg136=)
|
rs1405119017
|
|
NM_005271.5(GLUD1):c.446-9C>T
|
rs1846404467
|
|
NM_005271.5(GLUD1):c.456C>T (p.Tyr152=)
|
rs1846403678
|
|
NM_005271.5(GLUD1):c.526+10C>T
|
|
|
NM_005271.5(GLUD1):c.534G>T (p.Pro178=)
|
rs764675203
|
|
NM_005271.5(GLUD1):c.582+7A>G
|
|
|
NM_005271.5(GLUD1):c.647-14C>T
|
|
|
NM_005271.5(GLUD1):c.739T>C (p.Tyr247His)
|
rs2133811373
|
|
NM_005271.5(GLUD1):c.742-8del
|
|
|
NM_005271.5(GLUD1):c.756C>T (p.His252=)
|
|
|
NM_005271.5(GLUD1):c.771T>G (p.Gly257=)
|
rs144831842
|
|
NM_005271.5(GLUD1):c.78G>A (p.Ser26=)
|
|
|
NM_005271.5(GLUD1):c.859G>A (p.Ala287Thr)
|
|
|
NM_005327.7(HADH):c.117C>G (p.Gly39=)
|
|
|
NM_005327.7(HADH):c.120C>T (p.Ala40=)
|
|
|
NM_005327.7(HADH):c.123C>T (p.Gly41=)
|
|
|
NM_005327.7(HADH):c.126T>C (p.Ile42=)
|
|
|
NM_005327.7(HADH):c.132+15C>A
|
|
|
NM_005327.7(HADH):c.132+16T>A
|
|
|
NM_005327.7(HADH):c.132+19A>G
|
|
|
NM_005327.7(HADH):c.133-19T>C
|
|
|
NM_005327.7(HADH):c.133-20T>G
|
|
|
NM_005327.7(HADH):c.141A>G (p.Ala47=)
|
|
|
NM_005327.7(HADH):c.144A>T (p.Ala48=)
|
rs79881095
|
|
NM_005327.7(HADH):c.156A>G (p.Thr52=)
|
|
|
NM_005327.7(HADH):c.162G>A (p.Val54=)
|
|
|
NM_005327.7(HADH):c.163T>C (p.Leu55=)
|
|
|
NM_005327.7(HADH):c.180G>A (p.Glu60=)
|
|
|
NM_005327.7(HADH):c.18G>A (p.Arg6=)
|
|
|
NM_005327.7(HADH):c.237G>A (p.Lys79=)
|
rs150930917
|
|
NM_005327.7(HADH):c.246T>C (p.Phe82=)
|
|
|
NM_005327.7(HADH):c.249A>G (p.Ala83=)
|
|
|
NM_005327.7(HADH):c.261+10T>C
|
|
|
NM_005327.7(HADH):c.261+12T>C
|
|
|
NM_005327.7(HADH):c.261+15T>A
|
|
|
NM_005327.7(HADH):c.261+16C>A
|
|
|
NM_005327.7(HADH):c.261+16C>G
|
|
|
NM_005327.7(HADH):c.261+18A>T
|
|
|
NM_005327.7(HADH):c.261+19T>A
|
|
|
NM_005327.7(HADH):c.261+20G>A
|
|
|
NM_005327.7(HADH):c.261+7T>A
|
|
|
NM_005327.7(HADH):c.261+8C>G
|
|
|
NM_005327.7(HADH):c.261+8C>T
|
|
|
NM_005327.7(HADH):c.262-19C>T
|
rs2126229206
|
|
NM_005327.7(HADH):c.262-5A>C
|
|
|
NM_005327.7(HADH):c.262-5A>G
|
|
|
NM_005327.7(HADH):c.262-6C>T
|
|
|
NM_005327.7(HADH):c.262-8T>C
|
|
|
NM_005327.7(HADH):c.264C>T (p.Ala88=)
|
rs201324954
|
|
NM_005327.7(HADH):c.267C>T (p.Gly89=)
|
|
|
NM_005327.7(HADH):c.291G>T (p.Leu97=)
|
rs552317372
|
|
NM_005327.7(HADH):c.306C>G (p.Thr102=)
|
|
|
NM_005327.7(HADH):c.312G>A (p.Thr104=)
|
|
|
NM_005327.7(HADH):c.315T>C (p.Asp105=)
|
|
|
NM_005327.7(HADH):c.327T>C (p.Val109=)
|
|
|
NM_005327.7(HADH):c.336C>T (p.Ser112=)
|
|
|
NM_005327.7(HADH):c.351G>A (p.Val117=)
|
|
|
NM_005327.7(HADH):c.360C>T (p.Ile120=)
|
|
|
NM_005327.7(HADH):c.366G>A (p.Glu122=)
|
|
|
NM_005327.7(HADH):c.381A>G (p.Lys127=)
|
|
|
NM_005327.7(HADH):c.390C>T (p.Leu130=)
|
|
|
NM_005327.7(HADH):c.39C>T (p.Ser13=)
|
|
|
NM_005327.7(HADH):c.419+12C>G
|
|
|
NM_005327.7(HADH):c.419+14G>A
|
|
|
NM_005327.7(HADH):c.419+16A>T
|
|
|
NM_005327.7(HADH):c.419+18A>G
|
|
|
NM_005327.7(HADH):c.419+19A>G
|
|
|
NM_005327.7(HADH):c.420-10C>T
|
|
|
NM_005327.7(HADH):c.420-17A>G
|
|
|
NM_005327.7(HADH):c.420-19C>T
|
|
|
NM_005327.7(HADH):c.420-4A>G
|
|
|
NM_005327.7(HADH):c.426A>G (p.Thr142=)
|
|
|
NM_005327.7(HADH):c.450C>T (p.Ser150=)
|
|
|
NM_005327.7(HADH):c.489A>G (p.Gln163=)
|
|
|
NM_005327.7(HADH):c.48C>T (p.Ser16=)
|
|
|
NM_005327.7(HADH):c.498C>T (p.Phe166=)
|
|
|
NM_005327.7(HADH):c.525G>A (p.Val175=)
|
|
|
NM_005327.7(HADH):c.540T>C (p.Leu180=)
|
|
|
NM_005327.7(HADH):c.546+13C>T
|
|
|
NM_005327.7(HADH):c.546+15G>T
|
|
|
NM_005327.7(HADH):c.546+18dup
|
rs2126232168
|
|
NM_005327.7(HADH):c.546+9G>A
|
|
|
NM_005327.7(HADH):c.547-10G>T
|
|
|
NM_005327.7(HADH):c.547-19C>A
|
|
|
NM_005327.7(HADH):c.54C>A (p.Ala18=)
|
|
|
NM_005327.7(HADH):c.567C>T (p.Thr189=)
|
|
|
NM_005327.7(HADH):c.594A>G (p.Val198=)
|
|
|
NM_005327.7(HADH):c.600T>C (p.Phe200=)
|
|
|
NM_005327.7(HADH):c.612A>G (p.Leu204=)
|
|
|
NM_005327.7(HADH):c.615A>G (p.Gly205=)
|
|
|
NM_005327.7(HADH):c.636+16G>A
|
|
|
NM_005327.7(HADH):c.636+16G>T
|
|
|
NM_005327.7(HADH):c.636+18T>C
|
|
|
NM_005327.7(HADH):c.636+20G>A
|
|
|
NM_005327.7(HADH):c.636+7G>C
|
|
|
NM_005327.7(HADH):c.637-10C>T
|
|
|
NM_005327.7(HADH):c.637-18T>C
|
|
|
NM_005327.7(HADH):c.637-20T>C
|
|
|
NM_005327.7(HADH):c.637-7A>C
|
|
|
NM_005327.7(HADH):c.639C>T (p.Asp213=)
|
|
|
NM_005327.7(HADH):c.642T>C (p.Thr214=)
|
|
|
NM_005327.7(HADH):c.651T>C (p.Phe217=)
|
|
|
NM_005327.7(HADH):c.663C>T (p.Arg221=)
|
|
|
NM_005327.7(HADH):c.709+17G>A
|
|
|
NM_005327.7(HADH):c.709+8T>A
|
rs2126237037
|
|
NM_005327.7(HADH):c.710-11T>A
|
|
|
NM_005327.7(HADH):c.710-11T>G
|
|
|
NM_005327.7(HADH):c.710-13G>A
|
|
|
NM_005327.7(HADH):c.710-14_710-11dup
|
|
|
NM_005327.7(HADH):c.710-15C>T
|
|
|
NM_005327.7(HADH):c.710-18C>T
|
|
|
NM_005327.7(HADH):c.710-19G>A
|
|
|
NM_005327.7(HADH):c.756C>G (p.Ala252=)
|
|
|
NM_005327.7(HADH):c.756C>T (p.Ala252=)
|
|
|
NM_005327.7(HADH):c.765C>G (p.Pro255=)
|
|
|
NM_005327.7(HADH):c.771C>T (p.Gly257=)
|
|
|
NM_005327.7(HADH):c.774A>G (p.Pro258=)
|
|
|
NM_005327.7(HADH):c.810G>A (p.Thr270=)
|
|
|
NM_005327.7(HADH):c.819C>T (p.Ile273=)
|
|
|
NM_005327.7(HADH):c.826+13del
|
|
|
NM_005327.7(HADH):c.826+8T>C
|
|
|
NM_005327.7(HADH):c.827-18C>T
|
|
|
NM_005327.7(HADH):c.827-20C>G
|
|
|
NM_005327.7(HADH):c.827-20C>T
|
|
|
NM_005327.7(HADH):c.827-4A>C
|
rs1381056065
|
|
NM_005327.7(HADH):c.828G>A (p.Gly276=)
|
|
|
NM_005327.7(HADH):c.846A>G (p.Ala282=)
|
|
|
NM_005327.7(HADH):c.873A>G (p.Pro291=)
|
|
|
NM_005327.7(HADH):c.87C>T (p.His29=)
|
|
|
NM_005327.7(HADH):c.897G>A (p.Glu299=)
|
|
|
NM_005327.7(HADH):c.906C>T (p.Phe302=)
|
|
|
NM_005327.7(HADH):c.909C>T (p.Gly303=)
|
|
|
NM_005327.7(HADH):c.921A>T (p.Gly307=)
|
|
|
NM_005327.7(HADH):c.93G>A (p.Thr31=)
|
|
|
NM_005327.7(HADH):c.99C>T (p.Ile33=)
|
rs74428123
|
|
NM_005334.3(HCFC1):c.1002G>A (p.Leu334=)
|
|
|
NM_005334.3(HCFC1):c.1005C>T (p.Tyr335=)
|
|
|
NM_005334.3(HCFC1):c.1017G>A (p.Gly339=)
|
|
|
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)
|
|
|
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=)
|
rs2148589412
|
|
NM_005334.3(HCFC1):c.1038C>G (p.Ala346=)
|
|
|
NM_005334.3(HCFC1):c.1084+18G>A
|
|
|
NM_005334.3(HCFC1):c.1084+18G>T
|
rs782811477
|
|
NM_005334.3(HCFC1):c.1084+20C>T
|
|
|
NM_005334.3(HCFC1):c.1084+7C>A
|
|
|
NM_005334.3(HCFC1):c.1084+9G>A
|
rs1557116426
|
|
NM_005334.3(HCFC1):c.1085-12G>C
|
|
|
NM_005334.3(HCFC1):c.1085-12G>T
|
|
|
NM_005334.3(HCFC1):c.1085-17A>G
|
|
|
NM_005334.3(HCFC1):c.1085-20C>T
|
|
|
NM_005334.3(HCFC1):c.1085-6C>T
|
|
|
NM_005334.3(HCFC1):c.1116G>A (p.Leu372=)
|
|
|
NM_005334.3(HCFC1):c.111C>A (p.Arg37=)
|
|
|
NM_005334.3(HCFC1):c.1122C>A (p.Arg374=)
|
|
|
NM_005334.3(HCFC1):c.1137C>T (p.Ser379=)
|
|
|
NM_005334.3(HCFC1):c.1149C>T (p.Ser383=)
|
|
|
NM_005334.3(HCFC1):c.1170C>T (p.Ala390=)
|
|
|
NM_005334.3(HCFC1):c.1203C>T (p.Asp401=)
|
|
|
NM_005334.3(HCFC1):c.1215G>A (p.Thr405=)
|
|
|
NM_005334.3(HCFC1):c.1230C>G (p.Thr410=)
|
|
|
NM_005334.3(HCFC1):c.1247C>T (p.Pro416Leu)
|
|
|
NM_005334.3(HCFC1):c.1248G>A (p.Pro416=)
|
|
|
NM_005334.3(HCFC1):c.1251C>T (p.Val417=)
|
rs1557116313
|
|
NM_005334.3(HCFC1):c.1275C>T (p.Pro425=)
|
|
|
NM_005334.3(HCFC1):c.1299C>T (p.Ala433=)
|
|
|
NM_005334.3(HCFC1):c.129G>A (p.Glu43=)
|
|
|
NM_005334.3(HCFC1):c.1300G>A (p.Ala434Thr)
|
|
|
NM_005334.3(HCFC1):c.1347C>G (p.Pro449=)
|
|
|
NM_005334.3(HCFC1):c.1359C>T (p.Pro453=)
|
|
|
NM_005334.3(HCFC1):c.1362A>G (p.Ala454=)
|
|
|
NM_005334.3(HCFC1):c.1407C>A (p.Gly469=)
|
|
|
NM_005334.3(HCFC1):c.1422G>A (p.Val474=)
|
|
|
NM_005334.3(HCFC1):c.1444+10G>A
|
|
|
NM_005334.3(HCFC1):c.1444+14C>T
|
|
|
NM_005334.3(HCFC1):c.1444+18G>A
|
|
|
NM_005334.3(HCFC1):c.1445-11T>C
|
|
|
NM_005334.3(HCFC1):c.1445-17G>T
|
|
|
NM_005334.3(HCFC1):c.1445-20C>G
|
|
|
NM_005334.3(HCFC1):c.1445-7T>C
|
|
|
NM_005334.3(HCFC1):c.1445-8C>G
|
|
|
NM_005334.3(HCFC1):c.1445-8C>T
|
|
|
NM_005334.3(HCFC1):c.1452T>C (p.Pro484=)
|
|
|
NM_005334.3(HCFC1):c.1527T>C (p.Ala509=)
|
|
|
NM_005334.3(HCFC1):c.153C>T (p.Gly51=)
|
|
|
NM_005334.3(HCFC1):c.1544C>G (p.Thr515Ser)
|
|
|
NM_005334.3(HCFC1):c.1545C>T (p.Thr515=)
|
|
|
NM_005334.3(HCFC1):c.1546G>A (p.Val516Met)
|
|
|
NM_005334.3(HCFC1):c.1561G>A (p.Ala521Thr)
|
|
|
NM_005334.3(HCFC1):c.1605+11G>A
|
rs2148586621
|
|
NM_005334.3(HCFC1):c.1605+11G>T
|
|
|
NM_005334.3(HCFC1):c.1605+18G>A
|
|
|
NM_005334.3(HCFC1):c.1606-11G>T
|
|
|
NM_005334.3(HCFC1):c.1606-14C>T
|
|
|
NM_005334.3(HCFC1):c.1606-15C>T
|
|
|
NM_005334.3(HCFC1):c.1606-16C>T
|
|
|
NM_005334.3(HCFC1):c.1606-17G>A
|
|
|
NM_005334.3(HCFC1):c.1623A>G (p.Pro541=)
|
|
|
NM_005334.3(HCFC1):c.1641C>T (p.Ala547=)
|
|
|
NM_005334.3(HCFC1):c.1659C>A (p.Ala553=)
|
|
|
NM_005334.3(HCFC1):c.1659C>T (p.Ala553=)
|
|
|
NM_005334.3(HCFC1):c.1677C>A (p.Ile559=)
|
|
|
NM_005334.3(HCFC1):c.1683T>C (p.Pro561=)
|
|
|
NM_005334.3(HCFC1):c.1713A>G (p.Pro571=)
|
rs2148584844
|
|
NM_005334.3(HCFC1):c.171C>T (p.Asp57=)
|
|
|
NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)
|
|
|
NM_005334.3(HCFC1):c.1767C>T (p.Leu589=)
|
|
|
NM_005334.3(HCFC1):c.177G>A (p.Leu59=)
|
|
|
NM_005334.3(HCFC1):c.1788C>T (p.Ala596=)
|
|
|
NM_005334.3(HCFC1):c.1794G>C (p.Ser598=)
|
rs2148584612
|
|
NM_005334.3(HCFC1):c.1803+13del
|
|
|
NM_005334.3(HCFC1):c.1803+15G>A
|
|
|
NM_005334.3(HCFC1):c.1804-14T>C
|
|
|
NM_005334.3(HCFC1):c.1804-7C>T
|
|
|
NM_005334.3(HCFC1):c.1804-9C>G
|
|
|
NM_005334.3(HCFC1):c.1812C>T (p.Asn604=)
|
|
|
NM_005334.3(HCFC1):c.1813C>G (p.Pro605Ala)
|
|
|
NM_005334.3(HCFC1):c.1860G>A (p.Ser620=)
|
|
|
NM_005334.3(HCFC1):c.1878C>T (p.Asn626=)
|
|
|
NM_005334.3(HCFC1):c.1887C>T (p.Thr629=)
|
|
|
NM_005334.3(HCFC1):c.189C>T (p.Asn63=)
|
|
|
NM_005334.3(HCFC1):c.193+12G>A
|
|
|
NM_005334.3(HCFC1):c.193+15C>T
|
|
|
NM_005334.3(HCFC1):c.193+15dup
|
|
|
NM_005334.3(HCFC1):c.193+16G>T
|
|
|
NM_005334.3(HCFC1):c.193+7G>A
|
|
|
NM_005334.3(HCFC1):c.194-19G>C
|
|
|
NM_005334.3(HCFC1):c.194-20T>C
|
|
|
NM_005334.3(HCFC1):c.1947G>T (p.Val649=)
|
|
|
NM_005334.3(HCFC1):c.1953C>T (p.Thr651=)
|
|
|
NM_005334.3(HCFC1):c.1965C>T (p.Gly655=)
|
|
|
NM_005334.3(HCFC1):c.1968G>A (p.Gly656=)
|
|
|
NM_005334.3(HCFC1):c.2004C>T (p.Ile668=)
|
|
|
NM_005334.3(HCFC1):c.2028+17G>A
|
|
|
NM_005334.3(HCFC1):c.2029-12C>T
|
|
|
NM_005334.3(HCFC1):c.2029-12del
|
|
|
NM_005334.3(HCFC1):c.2029-14C>T
|
|
|
NM_005334.3(HCFC1):c.2029-18C>T
|
|
|
NM_005334.3(HCFC1):c.2127C>T (p.Ile709=)
|
|
|
NM_005334.3(HCFC1):c.2133+10C>T
|
|
|
NM_005334.3(HCFC1):c.2133+11dup
|
|
|
NM_005334.3(HCFC1):c.2133+20A>C
|
|
|
NM_005334.3(HCFC1):c.2134-14C>T
|
|
|
NM_005334.3(HCFC1):c.2134-18C>T
|
|
|
NM_005334.3(HCFC1):c.2134-20C>T
|
|
|
NM_005334.3(HCFC1):c.2134-9C>T
|
|
|
NM_005334.3(HCFC1):c.2148G>A (p.Leu716=)
|
|
|
NM_005334.3(HCFC1):c.2152G>C (p.Ala718Pro)
|
|
|
NM_005334.3(HCFC1):c.2170C>T (p.Leu724=)
|
|
|
NM_005334.3(HCFC1):c.2178C>T (p.Thr726=)
|
|
|
NM_005334.3(HCFC1):c.219C>T (p.Ala73=)
|
|
|
NM_005334.3(HCFC1):c.21C>T (p.Pro7=)
|
|
|
NM_005334.3(HCFC1):c.2217G>A (p.Thr739=)
|
|
|
NM_005334.3(HCFC1):c.2235G>A (p.Gly745=)
|
|
|
NM_005334.3(HCFC1):c.2256C>A (p.Gly752=)
|
|
|
NM_005334.3(HCFC1):c.2265C>T (p.Ser755=)
|
|
|
NM_005334.3(HCFC1):c.228G>C (p.Gly76=)
|
|
|
NM_005334.3(HCFC1):c.2307C>A (p.Ile769=)
|
|
|
NM_005334.3(HCFC1):c.2325G>A (p.Ser775=)
|
|
|
NM_005334.3(HCFC1):c.2325G>C (p.Ser775=)
|
|
|
NM_005334.3(HCFC1):c.2337C>T (p.Thr779=)
|
|
|
NM_005334.3(HCFC1):c.2343G>A (p.Ala781=)
|
|
|
NM_005334.3(HCFC1):c.2353+15C>T
|
|
|
NM_005334.3(HCFC1):c.2353+16G>A
|
|
|
NM_005334.3(HCFC1):c.2353+19A>G
|
|
|
NM_005334.3(HCFC1):c.2353+20T>C
|
|
|
NM_005334.3(HCFC1):c.2354-10_2354-9del
|
|
|
NM_005334.3(HCFC1):c.2354-14A>G
|
|
|
NM_005334.3(HCFC1):c.2354-15C>T
|
|
|
NM_005334.3(HCFC1):c.2354-16C>G
|
|
|
NM_005334.3(HCFC1):c.2354-20G>A
|
|
|
NM_005334.3(HCFC1):c.237C>A (p.Pro79=)
|
rs782481466
|
|
NM_005334.3(HCFC1):c.2391C>T (p.Thr797=)
|
|
|
NM_005334.3(HCFC1):c.2445C>A (p.Ile815=)
|
|
|
NM_005334.3(HCFC1):c.2469T>G (p.Thr823=)
|
|
|
NM_005334.3(HCFC1):c.2472C>T (p.Gly824=)
|
|
|
NM_005334.3(HCFC1):c.2493C>A (p.Thr831=)
|
|
|
NM_005334.3(HCFC1):c.2496+12C>T
|
|
|
NM_005334.3(HCFC1):c.2496+14A>G
|
|
|
NM_005334.3(HCFC1):c.2496+17C>T
|
|
|
NM_005334.3(HCFC1):c.2496+20C>G
|
|
|
NM_005334.3(HCFC1):c.2496+7C>T
|
|
|
NM_005334.3(HCFC1):c.2497-16T>C
|
|
|
NM_005334.3(HCFC1):c.2497-17_2497-16del
|
|
|
NM_005334.3(HCFC1):c.2544T>G (p.Thr848=)
|
|
|
NM_005334.3(HCFC1):c.2547G>T (p.Val849=)
|
|
|
NM_005334.3(HCFC1):c.2556G>A (p.Gly852=)
|
|
|
NM_005334.3(HCFC1):c.255T>C (p.Tyr85=)
|
|
|
NM_005334.3(HCFC1):c.2565C>A (p.Arg855=)
|
|
|
NM_005334.3(HCFC1):c.2565C>G (p.Arg855=)
|
|
|
NM_005334.3(HCFC1):c.2586C>T (p.Val862=)
|
|
|
NM_005334.3(HCFC1):c.258C>T (p.Gly86=)
|
|
|
NM_005334.3(HCFC1):c.2605G>A (p.Val869Ile)
|
|
|
NM_005334.3(HCFC1):c.2607C>A (p.Val869=)
|
|
|
NM_005334.3(HCFC1):c.2635+10C>T
|
|
|
NM_005334.3(HCFC1):c.2635+12T>A
|
|
|
NM_005334.3(HCFC1):c.2635+15G>A
|
|
|
NM_005334.3(HCFC1):c.2635+9C>T
|
|
|
NM_005334.3(HCFC1):c.2636-10T>A
|
|
|
NM_005334.3(HCFC1):c.2636-14C>T
|
|
|
NM_005334.3(HCFC1):c.2636-15C>A
|
|
|
NM_005334.3(HCFC1):c.2636-18T>A
|
|
|
NM_005334.3(HCFC1):c.2649A>G (p.Leu883=)
|
|
|
NM_005334.3(HCFC1):c.2667C>A (p.Thr889=)
|
|
|
NM_005334.3(HCFC1):c.2673C>T (p.Ser891=)
|
|
|
NM_005334.3(HCFC1):c.2688G>C (p.Gly896=)
|
|
|
NM_005334.3(HCFC1):c.2696G>A (p.Gly899Asp)
|
|
|
NM_005334.3(HCFC1):c.2700C>T (p.His900=)
|
|
|
NM_005334.3(HCFC1):c.2715C>T (p.Ser905=)
|
|
|
NM_005334.3(HCFC1):c.2721C>T (p.Ala907=)
|
|
|
NM_005334.3(HCFC1):c.2724G>A (p.Thr908=)
|
|
|
NM_005334.3(HCFC1):c.2736C>T (p.Thr912=)
|
|
|
NM_005334.3(HCFC1):c.2745C>T (p.Thr915=)
|
|
|
NM_005334.3(HCFC1):c.2763C>T (p.Ser921=)
|
|
|
NM_005334.3(HCFC1):c.2784C>T (p.Ala928=)
|
|
|
NM_005334.3(HCFC1):c.2796G>A (p.Ser932=)
|
|
|
NM_005334.3(HCFC1):c.2811G>A (p.Thr937=)
|
|
|
NM_005334.3(HCFC1):c.2814G>A (p.Leu938=)
|
|
|
NM_005334.3(HCFC1):c.2817A>C (p.Thr939=)
|
|
|
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=)
|
rs782349400
|
|
NM_005334.3(HCFC1):c.2856+17G>A
|
|
|
NM_005334.3(HCFC1):c.2856+8A>G
|
|
|
NM_005334.3(HCFC1):c.2857-13_2857-12insTCA
|
|
|
NM_005334.3(HCFC1):c.2857-18C>T
|
|
|
NM_005334.3(HCFC1):c.2857-20C>T
|
rs2148575650
|
|
NM_005334.3(HCFC1):c.2857-23CTC[2]
|
rs886044899
|
|
NM_005334.3(HCFC1):c.2857-8C>T
|
|
|
NM_005334.3(HCFC1):c.2859C>G (p.Pro953=)
|
|
|
NM_005334.3(HCFC1):c.2860G>A (p.Val954Met)
|
|
|
NM_005334.3(HCFC1):c.2898T>C (p.Pro966=)
|
|
|
NM_005334.3(HCFC1):c.2916G>A (p.Gln972=)
|
|
|
NM_005334.3(HCFC1):c.2931C>T (p.Leu977=)
|
|
|
NM_005334.3(HCFC1):c.2944C>T (p.Leu982=)
|
|
|
NM_005334.3(HCFC1):c.2952C>T (p.Ser984=)
|
|
|
NM_005334.3(HCFC1):c.2970C>T (p.Pro990=)
|
|
|
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
|
|
|
NM_005334.3(HCFC1):c.2984C>G (p.Thr995Ser)
|
|
|
NM_005334.3(HCFC1):c.3018T>G (p.Pro1006=)
|
|
|
NM_005334.3(HCFC1):c.306G>A (p.Glu102=)
|
|
|
NM_005334.3(HCFC1):c.3084G>A (p.Thr1028=)
|
|
|
NM_005334.3(HCFC1):c.3147C>T (p.Val1049=)
|
|
|
NM_005334.3(HCFC1):c.3158A>G (p.Gln1053Arg)
|
|
|
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=)
|
rs944235194
|
|
NM_005334.3(HCFC1):c.3186G>A (p.Ser1062=)
|
|
|
NM_005334.3(HCFC1):c.3201G>A (p.Gln1067=)
|
|
|
NM_005334.3(HCFC1):c.3216C>G (p.Val1072=)
|
|
|
NM_005334.3(HCFC1):c.3218G>A (p.Arg1073Gln)
|
|
|
NM_005334.3(HCFC1):c.3227C>T (p.Ser1076Leu)
|
|
|
NM_005334.3(HCFC1):c.323A>G (p.Asn108Ser)
|
|
|
NM_005334.3(HCFC1):c.3250G>A (p.Glu1084Lys)
|
|
|
NM_005334.3(HCFC1):c.3252G>A (p.Glu1084=)
|
|
|
NM_005334.3(HCFC1):c.3285C>T (p.Thr1095=)
|
|
|
NM_005334.3(HCFC1):c.3292A>G (p.Met1098Val)
|
|
|
NM_005334.3(HCFC1):c.3298G>A (p.Gly1100Arg)
|
|
|
NM_005334.3(HCFC1):c.3330G>A (p.Glu1110=)
|
|
|
NM_005334.3(HCFC1):c.3336C>T (p.His1112=)
|
|
|
NM_005334.3(HCFC1):c.3341C>T (p.Thr1114Met)
|
|
|
NM_005334.3(HCFC1):c.3369C>T (p.Ala1123=)
|
|
|
NM_005334.3(HCFC1):c.3374C>T (p.Ser1125Leu)
|
|
|
NM_005334.3(HCFC1):c.3375G>A (p.Ser1125=)
|
|
|
NM_005334.3(HCFC1):c.3378C>T (p.Ser1126=)
|
|
|
NM_005334.3(HCFC1):c.3384C>T (p.Gly1128=)
|
|
|
NM_005334.3(HCFC1):c.3389A>G (p.Asn1130Ser)
|
|
|
NM_005334.3(HCFC1):c.342+9G>A
|
|
|
NM_005334.3(HCFC1):c.343-10G>A
|
|
|
NM_005334.3(HCFC1):c.343-7T>G
|
|
|
NM_005334.3(HCFC1):c.343-8T>C
|
|
|
NM_005334.3(HCFC1):c.3435C>T (p.Ala1145=)
|
|
|
NM_005334.3(HCFC1):c.345G>A (p.Ala115=)
|
|
|
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=)
|
rs1053320929
|
|
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)
|
|
|
NM_005334.3(HCFC1):c.3490T>A (p.Ser1164Thr)
|
|
|
NM_005334.3(HCFC1):c.3505C>T (p.Arg1169Cys)
|
|
|
NM_005334.3(HCFC1):c.3513C>T (p.Thr1171=)
|
|
|
NM_005334.3(HCFC1):c.3516C>T (p.Ser1172=)
|
|
|
NM_005334.3(HCFC1):c.3537T>A (p.Thr1179=)
|
|
|
NM_005334.3(HCFC1):c.3549C>T (p.Thr1183=)
|
|
|
NM_005334.3(HCFC1):c.357G>A (p.Glu119=)
|
|
|
NM_005334.3(HCFC1):c.3594A>G (p.Ala1198=)
|
|
|
NM_005334.3(HCFC1):c.3603C>A (p.Pro1201=)
|
rs782167598
|
|
NM_005334.3(HCFC1):c.3603C>T (p.Pro1201=)
|
|
|
NM_005334.3(HCFC1):c.3610C>T (p.Arg1204Cys)
|
|
|
NM_005334.3(HCFC1):c.3629A>G (p.Gln1210Arg)
|
|
|
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=)
|
rs1557114069
|
|
NM_005334.3(HCFC1):c.3639T>G (p.Pro1213=)
|
|
|
NM_005334.3(HCFC1):c.3650A>G (p.Lys1217Arg)
|
|
|
NM_005334.3(HCFC1):c.3658C>T (p.Leu1220=)
|
|
|
NM_005334.3(HCFC1):c.3708G>C (p.Ala1236=)
|
|
|
NM_005334.3(HCFC1):c.3708G>T (p.Ala1236=)
|
|
|
NM_005334.3(HCFC1):c.3714C>T (p.Ser1238=)
|
|
|
NM_005334.3(HCFC1):c.3719C>G (p.Ala1240Gly)
|
|
|
NM_005334.3(HCFC1):c.3719C>T (p.Ala1240Val)
|
|
|
NM_005334.3(HCFC1):c.3723C>T (p.Ala1241=)
|
|
|
NM_005334.3(HCFC1):c.3732T>C (p.Arg1244=)
|
|
|
NM_005334.3(HCFC1):c.3738C>T (p.Ser1246=)
|
|
|
NM_005334.3(HCFC1):c.3744T>A (p.Gly1248=)
|
|
|
NM_005334.3(HCFC1):c.3756C>A (p.Pro1252=)
|
|
|
NM_005334.3(HCFC1):c.3758G>T (p.Arg1253Leu)
|
|
|
NM_005334.3(HCFC1):c.3760A>G (p.Met1254Val)
|
|
|
NM_005334.3(HCFC1):c.3783C>T (p.Leu1261=)
|
|
|
NM_005334.3(HCFC1):c.3792C>T (p.Gly1264=)
|
|
|
NM_005334.3(HCFC1):c.3798C>T (p.Pro1266=)
|
|
|
NM_005334.3(HCFC1):c.381G>A (p.Thr127=)
|
|
|
NM_005334.3(HCFC1):c.3834G>A (p.Leu1278=)
|
|
|
NM_005334.3(HCFC1):c.3867C>G (p.Cys1289Trp)
|
|
|
NM_005334.3(HCFC1):c.3879A>G (p.Pro1293=)
|
|
|
NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=)
|
|
|
NM_005334.3(HCFC1):c.3905C>T (p.Thr1302Ile)
|
|
|
NM_005334.3(HCFC1):c.3912C>T (p.Thr1304=)
|
|
|
NM_005334.3(HCFC1):c.3921C>T (p.Thr1307=)
|
|
|
NM_005334.3(HCFC1):c.3939C>T (p.Ala1313=)
|
|
|
NM_005334.3(HCFC1):c.3966C>T (p.Cys1322=)
|
|
|
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)
|
|
|
NM_005334.3(HCFC1):c.3996G>A (p.Thr1332=)
|
|
|
NM_005334.3(HCFC1):c.4010C>T (p.Thr1337Ile)
|
|
|
NM_005334.3(HCFC1):c.402G>A (p.Pro134=)
|
|
|
NM_005334.3(HCFC1):c.4062T>C (p.Gly1354=)
|
|
|
NM_005334.3(HCFC1):c.4077A>G (p.Thr1359=)
|
|
|
NM_005334.3(HCFC1):c.4092C>G (p.Ser1364=)
|
|
|
NM_005334.3(HCFC1):c.4098C>A (p.Gly1366=)
|
|
|
NM_005334.3(HCFC1):c.4098C>T (p.Gly1366=)
|
|
|
NM_005334.3(HCFC1):c.4104C>T (p.Thr1368=)
|
|
|
NM_005334.3(HCFC1):c.4110G>A (p.Ser1370=)
|
|
|
NM_005334.3(HCFC1):c.411A>G (p.Arg137=)
|
|
|
NM_005334.3(HCFC1):c.4128G>T (p.Leu1376=)
|
|
|
NM_005334.3(HCFC1):c.4129C>T (p.Leu1377Phe)
|
|
|
NM_005334.3(HCFC1):c.4138G>A (p.Ala1380Thr)
|
|
|
NM_005334.3(HCFC1):c.4141A>G (p.Thr1381Ala)
|
|
|
NM_005334.3(HCFC1):c.4145C>T (p.Ser1382Phe)
|
|
|
NM_005334.3(HCFC1):c.414C>G (p.Leu138=)
|
|
|
NM_005334.3(HCFC1):c.414C>T (p.Leu138=)
|
|
|
NM_005334.3(HCFC1):c.4161G>C (p.Val1387=)
|
|
|
NM_005334.3(HCFC1):c.417G>A (p.Gly139=)
|
|
|
NM_005334.3(HCFC1):c.4188A>G (p.Ala1396=)
|
|
|
NM_005334.3(HCFC1):c.4200C>T (p.Thr1400=)
|
|
|
NM_005334.3(HCFC1):c.4203C>A (p.Pro1401=)
|
|
|
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)
|
|
|
NM_005334.3(HCFC1):c.4215C>T (p.Thr1405=)
|
|
|
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
|
|
|
NM_005334.3(HCFC1):c.4224G>A (p.Leu1408=)
|
|
|
NM_005334.3(HCFC1):c.4230T>G (p.Pro1410=)
|
|
|
NM_005334.3(HCFC1):c.4239A>C (p.Thr1413=)
|
|
|
NM_005334.3(HCFC1):c.423C>T (p.Ser141=)
|
|
|
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=)
|
rs782771916
|
|
NM_005334.3(HCFC1):c.4263C>G (p.Pro1421=)
|
|
|
NM_005334.3(HCFC1):c.426C>T (p.Phe142=)
|
|
|
NM_005334.3(HCFC1):c.4272C>G (p.Thr1424=)
|
|
|
NM_005334.3(HCFC1):c.4281G>A (p.Thr1427=)
|
|
|
NM_005334.3(HCFC1):c.4284C>T (p.Gly1428=)
|
|
|
NM_005334.3(HCFC1):c.4293C>T (p.His1431=)
|
|
|
NM_005334.3(HCFC1):c.4299C>T (p.Ala1433=)
|
|
|
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=)
|
rs2148568710
|
|
NM_005334.3(HCFC1):c.432T>C (p.Leu144=)
|
|
|
NM_005334.3(HCFC1):c.4333+9A>G
|
|
|
NM_005334.3(HCFC1):c.4334-10_4334-9insGCC
|
|
|
NM_005334.3(HCFC1):c.4334-11C>G
|
|
|
NM_005334.3(HCFC1):c.4334-13G>A
|
|
|
NM_005334.3(HCFC1):c.4334-15C>T
|
|
|
NM_005334.3(HCFC1):c.4334-16C>T
|
|
|
NM_005334.3(HCFC1):c.4334-18_4334-8dup
|
|
|
NM_005334.3(HCFC1):c.4334-20C>A
|
|
|
NM_005334.3(HCFC1):c.435G>C (p.Val145=)
|
|
|
NM_005334.3(HCFC1):c.4373G>A (p.Ser1458Asn)
|
|
|
NM_005334.3(HCFC1):c.4383C>T (p.Gly1461=)
|
|
|
NM_005334.3(HCFC1):c.4386C>T (p.Asp1462=)
|
|
|
NM_005334.3(HCFC1):c.4390G>A (p.Val1464Met)
|
|
|
NM_005334.3(HCFC1):c.4413C>T (p.Ala1471=)
|
|
|
NM_005334.3(HCFC1):c.4430C>G (p.Ser1477Cys)
|
|
|
NM_005334.3(HCFC1):c.4443G>A (p.Thr1481=)
|
|
|
NM_005334.3(HCFC1):c.4455C>T (p.Thr1485=)
|
|
|
NM_005334.3(HCFC1):c.4458C>G (p.Thr1486=)
|
|
|
NM_005334.3(HCFC1):c.4458C>T (p.Thr1486=)
|
|
|
NM_005334.3(HCFC1):c.4482G>A (p.Pro1494=)
|
|
|
NM_005334.3(HCFC1):c.4482G>C (p.Pro1494=)
|
|
|
NM_005334.3(HCFC1):c.4497+16G>A
|
|
|
NM_005334.3(HCFC1):c.4497+16G>T
|
|
|
NM_005334.3(HCFC1):c.4497+18C>T
|
|
|
NM_005334.3(HCFC1):c.4497+19G>A
|
|
|
NM_005334.3(HCFC1):c.4497+9C>T
|
|
|
NM_005334.3(HCFC1):c.4498-12G>T
|
|
|
NM_005334.3(HCFC1):c.4498-20C>T
|
|
|
NM_005334.3(HCFC1):c.4498-6C>T
|
|
|
NM_005334.3(HCFC1):c.4503A>G (p.Pro1501=)
|
|
|
NM_005334.3(HCFC1):c.4506G>A (p.Glu1502=)
|
|
|
NM_005334.3(HCFC1):c.4521G>A (p.Ser1507=)
|
|
|
NM_005334.3(HCFC1):c.4521G>C (p.Ser1507=)
|
|
|
NM_005334.3(HCFC1):c.4521G>T (p.Ser1507=)
|
|
|
NM_005334.3(HCFC1):c.4524A>G (p.Pro1508=)
|
|
|
NM_005334.3(HCFC1):c.4527T>A (p.Gly1509=)
|
|
|
NM_005334.3(HCFC1):c.4533C>T (p.Arg1511=)
|
|
|
NM_005334.3(HCFC1):c.453G>C (p.Leu151=)
|
|
|
NM_005334.3(HCFC1):c.4540C>T (p.Leu1514=)
|
|
|
NM_005334.3(HCFC1):c.4545G>C (p.Pro1515=)
|
|
|
NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=)
|
rs2065328379
|
|
NM_005334.3(HCFC1):c.4572C>T (p.Ser1524=)
|
|
|
NM_005334.3(HCFC1):c.4575A>G (p.Thr1525=)
|
|
|
NM_005334.3(HCFC1):c.4593C>T (p.Ser1531=)
|
|
|
NM_005334.3(HCFC1):c.4611C>T (p.Ala1537=)
|
|
|
NM_005334.3(HCFC1):c.4620C>A (p.Thr1540=)
|
|
|
NM_005334.3(HCFC1):c.4632G>T (p.Pro1544=)
|
|
|
NM_005334.3(HCFC1):c.4635C>G (p.Ala1545=)
|
|
|
NM_005334.3(HCFC1):c.4635C>T (p.Ala1545=)
|
|
|
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)
|
|
|
NM_005334.3(HCFC1):c.463C>T (p.Leu155=)
|
|
|
NM_005334.3(HCFC1):c.465G>A (p.Leu155=)
|
|
|
NM_005334.3(HCFC1):c.4665A>G (p.Pro1555=)
|
|
|
NM_005334.3(HCFC1):c.4670C>T (p.Ser1557Leu)
|
|
|
NM_005334.3(HCFC1):c.4695G>A (p.Ala1565=)
|
|
|
NM_005334.3(HCFC1):c.4698G>A (p.Val1566=)
|
|
|
NM_005334.3(HCFC1):c.4716C>G (p.Val1572=)
|
|
|
NM_005334.3(HCFC1):c.4734A>G (p.Thr1578=)
|
|
|
NM_005334.3(HCFC1):c.4740C>G (p.Ser1580=)
|
|
|
NM_005334.3(HCFC1):c.4741G>C (p.Glu1581Gln)
|
|
|
NM_005334.3(HCFC1):c.4752G>A (p.Gln1584=)
|
|
|
NM_005334.3(HCFC1):c.4755A>G (p.Leu1585=)
|
|
|
NM_005334.3(HCFC1):c.4779C>T (p.Ala1593=)
|
|
|
NM_005334.3(HCFC1):c.4785C>G (p.Ala1595=)
|
|
|
NM_005334.3(HCFC1):c.4812A>G (p.Val1604=)
|
|
|
NM_005334.3(HCFC1):c.4821C>T (p.Leu1607=)
|
|
|
NM_005334.3(HCFC1):c.4827C>T (p.Pro1609=)
|
|
|
NM_005334.3(HCFC1):c.4845G>A (p.Thr1615=)
|
|
|
NM_005334.3(HCFC1):c.4872C>T (p.Ala1624=)
|
|
|
NM_005334.3(HCFC1):c.4926G>A (p.Ala1642=)
|
rs1557112897
|
|
NM_005334.3(HCFC1):c.4942+17C>A
|
|
|
NM_005334.3(HCFC1):c.4942+17C>T
|
|
|
NM_005334.3(HCFC1):c.4942+20T>C
|
|
|
NM_005334.3(HCFC1):c.4942+20T>G
|
|
|
NM_005334.3(HCFC1):c.4942+7G>A
|
|
|
NM_005334.3(HCFC1):c.4943-11C>A
|
|
|
NM_005334.3(HCFC1):c.4943-14C>T
|
|
|
NM_005334.3(HCFC1):c.4943-16C>T
|
|
|
NM_005334.3(HCFC1):c.4943-18C>A
|
|
|
NM_005334.3(HCFC1):c.4943-18C>T
|
|
|
NM_005334.3(HCFC1):c.4943-20T>C
|
|
|
NM_005334.3(HCFC1):c.4950C>T (p.Gly1650=)
|
|
|
NM_005334.3(HCFC1):c.4953G>A (p.Glu1651=)
|
|
|
NM_005334.3(HCFC1):c.4955C>T (p.Pro1652Leu)
|
|
|
NM_005334.3(HCFC1):c.4962C>T (p.Asp1654=)
|
|
|
NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=)
|
|
|
NM_005334.3(HCFC1):c.4974A>G (p.Ala1658=)
|
|
|
NM_005334.3(HCFC1):c.5008C>T (p.Leu1670=)
|
|
|
NM_005334.3(HCFC1):c.5013G>A (p.Ser1671=)
|
|
|
NM_005334.3(HCFC1):c.5016C>T (p.Ala1672=)
|
|
|
NM_005334.3(HCFC1):c.503+10G>A
|
|
|
NM_005334.3(HCFC1):c.503+8T>G
|
|
|
NM_005334.3(HCFC1):c.5038A>G (p.Thr1680Ala)
|
|
|
NM_005334.3(HCFC1):c.504-13C>A
|
|
|
NM_005334.3(HCFC1):c.504-16G>C
|
|
|
NM_005334.3(HCFC1):c.5040C>G (p.Thr1680=)
|
|
|
NM_005334.3(HCFC1):c.5040C>T (p.Thr1680=)
|
|
|
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=)
|
rs2148561246
|
|
NM_005334.3(HCFC1):c.5088G>A (p.Gln1696=)
|
|
|
NM_005334.3(HCFC1):c.5121G>A (p.Gln1707=)
|
|
|
NM_005334.3(HCFC1):c.5130C>T (p.His1710=)
|
|
|
NM_005334.3(HCFC1):c.513T>C (p.Asn171=)
|
|
|
NM_005334.3(HCFC1):c.5148C>T (p.Ala1716=)
|
|
|
NM_005334.3(HCFC1):c.5169C>T (p.Leu1723=)
|
|
|
NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=)
|
|
|
NM_005334.3(HCFC1):c.5196C>T (p.Cys1732=)
|
|
|
NM_005334.3(HCFC1):c.5208G>A (p.Leu1736=)
|
|
|
NM_005334.3(HCFC1):c.520T>C (p.Tyr174His)
|
|
|
NM_005334.3(HCFC1):c.5214C>A (p.Gly1738=)
|
|
|
NM_005334.3(HCFC1):c.5223C>T (p.Pro1741=)
|
|
|
NM_005334.3(HCFC1):c.5226C>T (p.Ser1742=)
|
|
|
NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=)
|
|
|
NM_005334.3(HCFC1):c.5232G>A (p.Val1744=)
|
|
|
NM_005334.3(HCFC1):c.5234C>T (p.Ala1745Val)
|
|
|
NM_005334.3(HCFC1):c.5235G>A (p.Ala1745=)
|
|
|
NM_005334.3(HCFC1):c.5260+17G>A
|
|
|
NM_005334.3(HCFC1):c.5260+7G>A
|
|
|
NM_005334.3(HCFC1):c.5261-12C>T
|
|
|
NM_005334.3(HCFC1):c.5261-12_5261-10del
|
|
|
NM_005334.3(HCFC1):c.5261-15C>T
|
|
|
NM_005334.3(HCFC1):c.5261-4C>T
|
|
|
NM_005334.3(HCFC1):c.5261-8C>G
|
|
|
NM_005334.3(HCFC1):c.5261-9_5261-6del
|
|
|
NM_005334.3(HCFC1):c.5267C>T (p.Ala1756Val)
|
|
|
NM_005334.3(HCFC1):c.526C>T (p.Leu176=)
|
|
|
NM_005334.3(HCFC1):c.5277C>T (p.Asn1759=)
|
|
|
NM_005334.3(HCFC1):c.5280A>G (p.Thr1760=)
|
|
|
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=)
|
rs2148560027
|
|
NM_005334.3(HCFC1):c.5313C>T (p.Ser1771=)
|
|
|
NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)
|
|
|
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=)
|
rs1057521778
|
|
NM_005334.3(HCFC1):c.5346C>G (p.Thr1782=)
|
|
|
NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=)
|
|
|
NM_005334.3(HCFC1):c.5370C>T (p.Ser1790=)
|
rs1220039024
|
|
NM_005334.3(HCFC1):c.5379+10del
|
|
|
NM_005334.3(HCFC1):c.5379+15T>C
|
|
|
NM_005334.3(HCFC1):c.5379+7C>T
|
|
|
NM_005334.3(HCFC1):c.5380-13T>C
|
|
|
NM_005334.3(HCFC1):c.5380-15G>A
|
|
|
NM_005334.3(HCFC1):c.5380-16C>T
|
|
|
NM_005334.3(HCFC1):c.5380-19C>T
|
|
|
NM_005334.3(HCFC1):c.5380-7C>T
|
|
|
NM_005334.3(HCFC1):c.5380-8T>A
|
|
|
NM_005334.3(HCFC1):c.5388C>G (p.Asp1796Glu)
|
|
|
NM_005334.3(HCFC1):c.5397C>G (p.Pro1799=)
|
|
|
NM_005334.3(HCFC1):c.5403C>A (p.Pro1801=)
|
|
|
NM_005334.3(HCFC1):c.5406C>T (p.Ser1802=)
|
|
|
NM_005334.3(HCFC1):c.543C>T (p.Gly181=)
|
|
|
NM_005334.3(HCFC1):c.5454T>C (p.Ile1818=)
|
|
|
NM_005334.3(HCFC1):c.5460C>T (p.Gly1820=)
|
|
|
NM_005334.3(HCFC1):c.5481C>T (p.His1827=)
|
|
|
NM_005334.3(HCFC1):c.5487C>T (p.Phe1829=)
|
|
|
NM_005334.3(HCFC1):c.5505T>C (p.Ala1835=)
|
|
|
NM_005334.3(HCFC1):c.5517+10C>G
|
|
|
NM_005334.3(HCFC1):c.5518-10C>T
|
|
|
NM_005334.3(HCFC1):c.5518-18C>T
|
|
|
NM_005334.3(HCFC1):c.5532C>G (p.Thr1844=)
|
|
|
NM_005334.3(HCFC1):c.5532C>T (p.Thr1844=)
|
|
|
NM_005334.3(HCFC1):c.5537C>T (p.Pro1846Leu)
|
|
|
NM_005334.3(HCFC1):c.5553G>A (p.Leu1851=)
|
|
|
NM_005334.3(HCFC1):c.5565G>A (p.Glu1855=)
|
|
|
NM_005334.3(HCFC1):c.5568G>A (p.Leu1856=)
|
|
|
NM_005334.3(HCFC1):c.5577C>G (p.Gly1859=)
|
|
|
NM_005334.3(HCFC1):c.5604A>C (p.Gly1868=)
|
|
|
NM_005334.3(HCFC1):c.5646C>T (p.Ala1882=)
|
|
|
NM_005334.3(HCFC1):c.5682T>G (p.Pro1894=)
|
|
|
NM_005334.3(HCFC1):c.5703+11C>T
|
|
|
NM_005334.3(HCFC1):c.5703+14T>G
|
|
|
NM_005334.3(HCFC1):c.5703+19T>C
|
|
|
NM_005334.3(HCFC1):c.5704-11C>G
|
|
|
NM_005334.3(HCFC1):c.5704-11C>T
|
|
|
NM_005334.3(HCFC1):c.5704-13C>T
|
|
|
NM_005334.3(HCFC1):c.5704-14C>A
|
|
|
NM_005334.3(HCFC1):c.5704-15C>A
|
|
|
NM_005334.3(HCFC1):c.5704-20_5704-18del
|
|
|
NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=)
|
|
|
NM_005334.3(HCFC1):c.5718T>C (p.Ala1906=)
|
|
|
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)
|
|
|
NM_005334.3(HCFC1):c.5727C>T (p.Thr1909=)
|
|
|
NM_005334.3(HCFC1):c.5748C>T (p.Thr1916=)
|
|
|
NM_005334.3(HCFC1):c.5763C>T (p.Ile1921=)
|
|
|
NM_005334.3(HCFC1):c.5772C>G (p.Ser1924=)
|
rs782090098
|
|
NM_005334.3(HCFC1):c.5802T>C (p.Ala1934=)
|
|
|
NM_005334.3(HCFC1):c.5808C>G (p.Gly1936=)
|
|
|
NM_005334.3(HCFC1):c.5819_5839dup (p.Leu1946_Ala1947insGlySerThrProAlaGlnLeu)
|
|
|
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=)
|
rs1000069168
|
|
NM_005334.3(HCFC1):c.5829G>C (p.Pro1943=)
|
|
|
NM_005334.3(HCFC1):c.5856C>T (p.Tyr1952=)
|
|
|
NM_005334.3(HCFC1):c.588A>G (p.Leu196=)
|
|
|
NM_005334.3(HCFC1):c.5898T>G (p.Leu1966=)
|
|
|
NM_005334.3(HCFC1):c.5913C>T (p.Ile1971=)
|
|
|
NM_005334.3(HCFC1):c.5931C>A (p.Pro1977=)
|
|
|
NM_005334.3(HCFC1):c.5931C>T (p.Pro1977=)
|
|
|
NM_005334.3(HCFC1):c.5934C>T (p.Ala1978=)
|
|
|
NM_005334.3(HCFC1):c.5943C>T (p.Phe1981=)
|
|
|
NM_005334.3(HCFC1):c.5955C>T (p.Ala1985=)
|
|
|
NM_005334.3(HCFC1):c.5961T>C (p.Asn1987=)
|
|
|
NM_005334.3(HCFC1):c.5979G>A (p.Pro1993=)
|
|
|
NM_005334.3(HCFC1):c.5985A>G (p.Thr1995=)
|
|
|
NM_005334.3(HCFC1):c.6004+10C>G
|
|
|
NM_005334.3(HCFC1):c.6004+13C>T
|
|
|
NM_005334.3(HCFC1):c.6004+16G>A
|
|
|
NM_005334.3(HCFC1):c.6005-11G>A
|
|
|
NM_005334.3(HCFC1):c.6005-13C>A
|
|
|
NM_005334.3(HCFC1):c.6005-13C>T
|
|
|
NM_005334.3(HCFC1):c.6005-16C>T
|
|
|
NM_005334.3(HCFC1):c.6005-5T>A
|
|
|
NM_005334.3(HCFC1):c.6005-6T>C
|
|
|
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=)
|
rs1715955651
|
|
NM_005334.3(HCFC1):c.6039C>G (p.Ala2013=)
|
|
|
NM_005334.3(HCFC1):c.6051C>T (p.Pro2017=)
|
|
|
NM_005334.3(HCFC1):c.6068+11A>G
|
|
|
NM_005334.3(HCFC1):c.6068+13C>G
|
rs2148553916
|
|
NM_005334.3(HCFC1):c.6068+14C>T
|
|
|
NM_005334.3(HCFC1):c.6068+15C>G
|
|
|
NM_005334.3(HCFC1):c.6068+19T>C
|
|
|
NM_005334.3(HCFC1):c.6090T>C (p.Ser2030=)
|
|
|
NM_005334.3(HCFC1):c.609T>C (p.His203=)
|
|
|
NM_005334.3(HCFC1):c.615C>T (p.Ala205=)
|
|
|
NM_005334.3(HCFC1):c.627C>T (p.Thr209=)
|
|
|
NM_005334.3(HCFC1):c.636C>T (p.Asp212=)
|
|
|
NM_005334.3(HCFC1):c.648C>T (p.Ser216=)
|
|
|
NM_005334.3(HCFC1):c.663C>T (p.Tyr221=)
|
|
|
NM_005334.3(HCFC1):c.666C>T (p.Gly222=)
|
|
|
NM_005334.3(HCFC1):c.69G>A (p.Val23=)
|
|
|
NM_005334.3(HCFC1):c.702C>T (p.Thr234=)
|
|
|
NM_005334.3(HCFC1):c.712+11T>A
|
|
|
NM_005334.3(HCFC1):c.712+13G>T
|
|
|
NM_005334.3(HCFC1):c.712+9GGT[3]
|
|
|
NM_005334.3(HCFC1):c.713-10CT[2]
|
|
|
NM_005334.3(HCFC1):c.713-17C>T
|
|
|
NM_005334.3(HCFC1):c.714C>T (p.Asp238=)
|
|
|
NM_005334.3(HCFC1):c.723G>A (p.Thr241=)
|
|
|
NM_005334.3(HCFC1):c.735C>G (p.Pro245=)
|
|
|
NM_005334.3(HCFC1):c.741C>T (p.Leu247=)
|
|
|
NM_005334.3(HCFC1):c.744C>T (p.Ser248=)
|
|
|
NM_005334.3(HCFC1):c.789C>T (p.Ile263=)
|
|
|
NM_005334.3(HCFC1):c.797+13T>A
|
|
|
NM_005334.3(HCFC1):c.797+15A>C
|
|
|
NM_005334.3(HCFC1):c.797+20C>T
|
|
|
NM_005334.3(HCFC1):c.797+9C>G
|
|
|
NM_005334.3(HCFC1):c.797+9C>T
|
|
|
NM_005334.3(HCFC1):c.798-11C>T
|
|
|
NM_005334.3(HCFC1):c.798-11_798-9del
|
|
|
NM_005334.3(HCFC1):c.798-15C>T
|
|
|
NM_005334.3(HCFC1):c.798-5C>T
|
|
|
NM_005334.3(HCFC1):c.798-9C>T
|
|
|
NM_005334.3(HCFC1):c.84G>A (p.Pro28=)
|
|
|
NM_005334.3(HCFC1):c.87G>A (p.Val29=)
|
|
|
NM_005334.3(HCFC1):c.885G>A (p.Thr295=)
|
|
|
NM_005334.3(HCFC1):c.8C>T (p.Ser3Leu)
|
|
|
NM_005334.3(HCFC1):c.904+10C>T
|
|
|
NM_005334.3(HCFC1):c.904+13C>T
|
|
|
NM_005334.3(HCFC1):c.904+16G>A
|
|
|
NM_005334.3(HCFC1):c.904+20C>T
|
|
|
NM_005334.3(HCFC1):c.905-9C>T
|
|
|
NM_005334.3(HCFC1):c.90A>C (p.Pro30=)
|
|
|
NM_005334.3(HCFC1):c.927C>T (p.Ile309=)
|
|
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
|
|
NM_005334.3(HCFC1):c.942G>A (p.Leu314=)
|
|
|
NM_005334.3(HCFC1):c.948C>T (p.Asp316=)
|
|
|
NM_005334.3(HCFC1):c.954C>A (p.Ile318=)
|
|
|
NM_005334.3(HCFC1):c.99C>T (p.Arg33=)
|
|
|
NM_005518.4(HMGCS2):c.1017-12G>A
|
|
|
NM_005518.4(HMGCS2):c.1017G>C (p.Gly339=)
|
rs777182302
|
|
NM_005518.4(HMGCS2):c.1020G>A (p.Gly340=)
|
|
|
NM_005518.4(HMGCS2):c.1029G>A (p.Leu343=)
|
|
|
NM_005518.4(HMGCS2):c.105-8C>T
|
|
|
NM_005518.4(HMGCS2):c.1080T>G (p.Ser360=)
|
|
|
NM_005518.4(HMGCS2):c.1119C>T (p.Tyr373=)
|
|
|
NM_005518.4(HMGCS2):c.1188-17G>T
|
|
|
NM_005518.4(HMGCS2):c.1254A>G (p.Ala418=)
|
rs2101249712
|
|
NM_005518.4(HMGCS2):c.126C>G (p.Val42=)
|
|
|
NM_005518.4(HMGCS2):c.126C>T (p.Val42=)
|
|
|
NM_005518.4(HMGCS2):c.1295-12T>C
|
|
|
NM_005518.4(HMGCS2):c.1333C>T (p.Leu445=)
|
rs754122611
|
|
NM_005518.4(HMGCS2):c.1350C>T (p.Ala450=)
|
|
|
NM_005518.4(HMGCS2):c.135C>T (p.Ala45=)
|
|
|
NM_005518.4(HMGCS2):c.1368T>C (p.Ser456=)
|
|
|
NM_005518.4(HMGCS2):c.1421-9A>C
|
|
|
NM_005518.4(HMGCS2):c.1425T>C (p.Asn475=)
|
rs751604096
|
|
NM_005518.4(HMGCS2):c.1521C>T (p.Pro507=)
|
|
|
NM_005518.4(HMGCS2):c.159C>T (p.Asp53=)
|
|
|
NM_005518.4(HMGCS2):c.195C>T (p.Ala65=)
|
rs1571042762
|
|
NM_005518.4(HMGCS2):c.348C>T (p.Arg116=)
|
|
|
NM_005518.4(HMGCS2):c.369T>C (p.Ser123=)
|
rs780926888
|
|
NM_005518.4(HMGCS2):c.393T>C (p.Thr131=)
|
|
|
NM_005518.4(HMGCS2):c.411G>A (p.Lys137=)
|
|
|
NM_005518.4(HMGCS2):c.51G>A (p.Ala17=)
|
|
|
NM_005518.4(HMGCS2):c.559+13A>T
|
|
|
NM_005518.4(HMGCS2):c.559+9G>A
|
|
|
NM_005518.4(HMGCS2):c.559+9G>T
|
|
|
NM_005518.4(HMGCS2):c.560-13T>C
|
|
|
NM_005518.4(HMGCS2):c.621C>T (p.Pro207=)
|
rs886045207
|
|
NM_005518.4(HMGCS2):c.633C>A (p.Ala211=)
|
|
|
NM_005518.4(HMGCS2):c.675C>T (p.Ala225=)
|
rs2101263677
|
|
NM_005518.4(HMGCS2):c.685+13C>G
|
|
|
NM_005518.4(HMGCS2):c.685+19C>T
|
rs2101263634
|
|
NM_005518.4(HMGCS2):c.686-17T>C
|
|
|
NM_005518.4(HMGCS2):c.786C>T (p.Tyr262=)
|
|
|
NM_005518.4(HMGCS2):c.822T>C (p.Arg274=)
|
rs1571037388
|
|
NM_005518.4(HMGCS2):c.850+17G>A
|
|
|
NM_005518.4(HMGCS2):c.990C>T (p.Ser330=)
|
rs2101258162
|
|
NM_005518.4(HMGCS2):c.991T>C (p.Leu331=)
|
rs776664576
|
|
NM_005629.4(SLC6A8):c.1016+10G>T
|
rs371905179
|
|
NM_005629.4(SLC6A8):c.1016+12C>G
|
|
|
NM_005629.4(SLC6A8):c.1016+19C>A
|
|
|
NM_005629.4(SLC6A8):c.1016+20C>T
|
|
|
NM_005629.4(SLC6A8):c.1016+8C>T
|
rs2148363011
|
|
NM_005629.4(SLC6A8):c.1016+9C>A
|
rs190690083
|
|
NM_005629.4(SLC6A8):c.1017-11C>T
|
|
|
NM_005629.4(SLC6A8):c.1017-15C>T
|
|
|
NM_005629.4(SLC6A8):c.1017-16C>G
|
rs1353769217
|
|
NM_005629.4(SLC6A8):c.1017-19T>C
|
|
|
NM_005629.4(SLC6A8):c.1017-20C>T
|
|
|
NM_005629.4(SLC6A8):c.1017-4T>G
|
|
|
NM_005629.4(SLC6A8):c.1017-4del
|
|
|
NM_005629.4(SLC6A8):c.1017-5C>A
|
|
|
NM_005629.4(SLC6A8):c.1017-7C>T
|
rs2148363139
|
|
NM_005629.4(SLC6A8):c.1023C>T (p.Ala341=)
|
rs2148363164
|
|
NM_005629.4(SLC6A8):c.1050G>C (p.Gly350=)
|
rs1403430635
|
|
NM_005629.4(SLC6A8):c.1059C>T (p.Phe353=)
|
rs2148363218
|
|
NM_005629.4(SLC6A8):c.1068C>G (p.Gly356=)
|
|
|
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=)
|
rs1603216989
|
|
NM_005629.4(SLC6A8):c.1077C>G (p.Val359=)
|
|
|
NM_005629.4(SLC6A8):c.1077C>T (p.Val359=)
|
rs782477560
|
|
NM_005629.4(SLC6A8):c.1083C>A (p.Ser361=)
|
rs2148363234
|
|
NM_005629.4(SLC6A8):c.1083C>T (p.Ser361=)
|
|
|
NM_005629.4(SLC6A8):c.1086C>T (p.Ile362=)
|
|
|
NM_005629.4(SLC6A8):c.108C>A (p.Gly36=)
|
|
|
NM_005629.4(SLC6A8):c.1092C>G (p.Gly364=)
|
|
|
NM_005629.4(SLC6A8):c.111C>G (p.Pro37=)
|
|
|
NM_005629.4(SLC6A8):c.1122C>T (p.Ile374=)
|
rs2148363253
|
|
NM_005629.4(SLC6A8):c.1125C>T (p.Ser375=)
|
rs2148363257
|
|
NM_005629.4(SLC6A8):c.1141+12C>T
|
|
|
NM_005629.4(SLC6A8):c.1141+15_1141+16dup
|
rs2148363278
|
|
NM_005629.4(SLC6A8):c.1141+19C>T
|
|
|
NM_005629.4(SLC6A8):c.1142-12C>T
|
|
|
NM_005629.4(SLC6A8):c.1142-15_1142-14dup
|
|
|
NM_005629.4(SLC6A8):c.1142-5C>A
|
rs1557045247
|
|
NM_005629.4(SLC6A8):c.1142-5C>G
|
|
|
NM_005629.4(SLC6A8):c.1142-6C>A
|
|
|
NM_005629.4(SLC6A8):c.1142-8T>A
|
rs2148363608
|
|
NM_005629.4(SLC6A8):c.1143G>C (p.Gly381=)
|
rs782514670
|
|
NM_005629.4(SLC6A8):c.1146G>C (p.Pro382=)
|
|
|
NM_005629.4(SLC6A8):c.1167C>T (p.Tyr389=)
|
rs2148363659
|
|
NM_005629.4(SLC6A8):c.1170G>C (p.Pro390=)
|
rs782416756
|
|
NM_005629.4(SLC6A8):c.1173G>A (p.Arg391=)
|
|
|
NM_005629.4(SLC6A8):c.1182G>A (p.Thr394=)
|
|
|
NM_005629.4(SLC6A8):c.1182G>T (p.Thr394=)
|
rs782266040
|
|
NM_005629.4(SLC6A8):c.1183C>T (p.Leu395=)
|
rs1557045279
|
|
NM_005629.4(SLC6A8):c.1194G>A (p.Val398=)
|
|
|
NM_005629.4(SLC6A8):c.1215G>A (p.Leu405=)
|
|
|
NM_005629.4(SLC6A8):c.1218C>T (p.Phe406=)
|
rs1557045310
|
|
NM_005629.4(SLC6A8):c.1228C>T (p.Leu410=)
|
|
|
NM_005629.4(SLC6A8):c.1230G>A (p.Leu410=)
|
rs1295612892
|
|
NM_005629.4(SLC6A8):c.123G>A (p.Gly41=)
|
|
|
NM_005629.4(SLC6A8):c.1245C>G (p.Leu415=)
|
rs782030501
|
|
NM_005629.4(SLC6A8):c.1248C>T (p.Asp416=)
|
|
|
NM_005629.4(SLC6A8):c.1254+11G>A
|
|
|
NM_005629.4(SLC6A8):c.1254+12G>A
|
|
|
NM_005629.4(SLC6A8):c.1254+16T>C
|
|
|
NM_005629.4(SLC6A8):c.1254+17G>C
|
|
|
NM_005629.4(SLC6A8):c.1254+19G>C
|
|
|
NM_005629.4(SLC6A8):c.1254+7A>G
|
rs2148363788
|
|
NM_005629.4(SLC6A8):c.1255-10C>G
|
|
|
NM_005629.4(SLC6A8):c.1255-10C>T
|
|
|
NM_005629.4(SLC6A8):c.1255-14dup
|
|
|
NM_005629.4(SLC6A8):c.1255-7G>C
|
rs2148363924
|
|
NM_005629.4(SLC6A8):c.1263T>C (p.Gly421=)
|
|
|
NM_005629.4(SLC6A8):c.1269G>A (p.Glu423=)
|
|
|
NM_005629.4(SLC6A8):c.126A>T (p.Thr42=)
|
rs1557043825
|
|
NM_005629.4(SLC6A8):c.1278C>T (p.Ile426=)
|
rs2148363948
|
|
NM_005629.4(SLC6A8):c.1299C>T (p.Leu433=)
|
|
|
NM_005629.4(SLC6A8):c.129C>A (p.Pro43=)
|
rs782267694
|
|
NM_005629.4(SLC6A8):c.12G>A (p.Lys4=)
|
rs1486125548
|
|
NM_005629.4(SLC6A8):c.1305C>A (p.Ala435=)
|
|
|
NM_005629.4(SLC6A8):c.1305C>T (p.Ala435=)
|
|
|
NM_005629.4(SLC6A8):c.132C>A (p.Gly44=)
|
rs2148358531
|
|
NM_005629.4(SLC6A8):c.1335C>A (p.Ile445=)
|
rs2148364036
|
|
NM_005629.4(SLC6A8):c.1344C>T (p.Ala448=)
|
rs781971678
|
|
NM_005629.4(SLC6A8):c.1356C>T (p.Ala452=)
|
rs2148364050
|
|
NM_005629.4(SLC6A8):c.1359C>G (p.Leu453=)
|
rs2148364052
|
|
NM_005629.4(SLC6A8):c.1392+10G>A
|
|
|
NM_005629.4(SLC6A8):c.1392+10G>T
|
|
|
NM_005629.4(SLC6A8):c.1392+12G>A
|
|
|
NM_005629.4(SLC6A8):c.1392+13G>T
|
|
|
NM_005629.4(SLC6A8):c.1392+14G>A
|
|
|
NM_005629.4(SLC6A8):c.1392+15G>A
|
rs1238949410
|
|
NM_005629.4(SLC6A8):c.1392+15G>C
|
|
|
NM_005629.4(SLC6A8):c.1392+17G>T
|
|
|
NM_005629.4(SLC6A8):c.1392+18T>A
|
|
|
NM_005629.4(SLC6A8):c.1392+19C>T
|
|
|
NM_005629.4(SLC6A8):c.1392+7G>C
|
rs1557045427
|
|
NM_005629.4(SLC6A8):c.1393-10T>C
|
rs2148364134
|
|
NM_005629.4(SLC6A8):c.1393-11C>G
|
|
|
NM_005629.4(SLC6A8):c.1393-13C>G
|
|
|
NM_005629.4(SLC6A8):c.1393-14G>A
|
|
|
NM_005629.4(SLC6A8):c.1393-18C>G
|
|
|
NM_005629.4(SLC6A8):c.1393-18C>T
|
|
|
NM_005629.4(SLC6A8):c.1393-4C>G
|
|
|
NM_005629.4(SLC6A8):c.1393-4C>T
|
rs1557045462
|
|
NM_005629.4(SLC6A8):c.1393-5C>T
|
rs782213020
|
|
NM_005629.4(SLC6A8):c.1393-7C>A
|
rs373525249
|
|
NM_005629.4(SLC6A8):c.1393-7C>T
|
rs373525249
|
|
NM_005629.4(SLC6A8):c.1410C>T (p.Phe470=)
|
rs2148364172
|
|
NM_005629.4(SLC6A8):c.1416G>A (p.Leu472=)
|
rs1557045478
|
|
NM_005629.4(SLC6A8):c.1416G>C (p.Leu472=)
|
rs1557045478
|
|
NM_005629.4(SLC6A8):c.1425C>T (p.Tyr475=)
|
rs2091475721
|
|
NM_005629.4(SLC6A8):c.1434C>T (p.Ala478=)
|
|
|
NM_005629.4(SLC6A8):c.1443C>G (p.Thr481=)
|
|
|
NM_005629.4(SLC6A8):c.1446C>G (p.Thr482=)
|
rs2148364242
|
|
NM_005629.4(SLC6A8):c.144C>G (p.Ala48=)
|
rs782232933
|
|
NM_005629.4(SLC6A8):c.1452C>T (p.Leu484=)
|
rs376421364
|
|
NM_005629.4(SLC6A8):c.1467G>C (p.Trp489Cys)
|
|
|
NM_005629.4(SLC6A8):c.1470G>A (p.Glu490=)
|
|
|
NM_005629.4(SLC6A8):c.147G>T (p.Val49=)
|
rs1275670151
|
|
NM_005629.4(SLC6A8):c.1482G>A (p.Val494=)
|
|
|
NM_005629.4(SLC6A8):c.1482G>C (p.Val494=)
|
|
|
NM_005629.4(SLC6A8):c.1491G>A (p.Val497=)
|
|
|
NM_005629.4(SLC6A8):c.1495+14dup
|
|
|
NM_005629.4(SLC6A8):c.1495+16G>C
|
|
|
NM_005629.4(SLC6A8):c.1495+16GGGCT[3]
|
|
|
NM_005629.4(SLC6A8):c.1495+7C>T
|
rs1603217530
|
|
NM_005629.4(SLC6A8):c.1495+8A>G
|
rs1057523669
|
|
NM_005629.4(SLC6A8):c.1496-10C>G
|
|
|
NM_005629.4(SLC6A8):c.1496-11C>T
|
|
|
NM_005629.4(SLC6A8):c.1496-20C>G
|
|
|
NM_005629.4(SLC6A8):c.1496-7G>C
|
rs781814962
|
|
NM_005629.4(SLC6A8):c.1500T>C (p.Ala500=)
|
rs2148364402
|
|
NM_005629.4(SLC6A8):c.150G>T (p.Pro50=)
|
|
|
NM_005629.4(SLC6A8):c.1518C>T (p.Asp506=)
|
rs1603217612
|
|
NM_005629.4(SLC6A8):c.1539C>T (p.Tyr513=)
|
|
|
NM_005629.4(SLC6A8):c.153G>A (p.Pro51=)
|
rs782351119
|
|
NM_005629.4(SLC6A8):c.153G>C (p.Pro51=)
|
rs782351119
|
|
NM_005629.4(SLC6A8):c.1545T>C (p.Pro515=)
|
|
|
NM_005629.4(SLC6A8):c.1548C>T (p.Cys516=)
|
|
|
NM_005629.4(SLC6A8):c.1551C>G (p.Pro517=)
|
|
|
NM_005629.4(SLC6A8):c.1585C>T (p.Leu529=)
|
rs2148364519
|
|
NM_005629.4(SLC6A8):c.1587G>A (p.Leu529=)
|
|
|
NM_005629.4(SLC6A8):c.1590C>T (p.Val530=)
|
|
|
NM_005629.4(SLC6A8):c.1596+11G>C
|
|
|
NM_005629.4(SLC6A8):c.1596+15_1596+27del
|
|
|
NM_005629.4(SLC6A8):c.1596+19G>A
|
rs2148364555
|
|
NM_005629.4(SLC6A8):c.1596+20G>A
|
|
|
NM_005629.4(SLC6A8):c.1596+7G>A
|
|
|
NM_005629.4(SLC6A8):c.1596+9T>C
|
|
|
NM_005629.4(SLC6A8):c.1597-11C>G
|
|
|
NM_005629.4(SLC6A8):c.1597-12del
|
|
|
NM_005629.4(SLC6A8):c.1597-17A>G
|
|
|
NM_005629.4(SLC6A8):c.1597-20C>G
|
rs781894858
|
|
NM_005629.4(SLC6A8):c.1597-4G>C
|
|
|
NM_005629.4(SLC6A8):c.1597-6C>G
|
|
|
NM_005629.4(SLC6A8):c.1597-6C>T
|
rs2091478800
|
|
NM_005629.4(SLC6A8):c.1597-8G>C
|
rs2148364655
|
|
NM_005629.4(SLC6A8):c.1602C>T (p.Ile534=)
|
rs782582776
|
|
NM_005629.4(SLC6A8):c.1632G>C (p.Pro544=)
|
rs782393373
|
|
NM_005629.4(SLC6A8):c.1638C>G (p.Val546=)
|
|
|
NM_005629.4(SLC6A8):c.1644C>T (p.Asn548=)
|
|
|
NM_005629.4(SLC6A8):c.1659C>T (p.Tyr553=)
|
rs1569539466
|
|
NM_005629.4(SLC6A8):c.1677C>T (p.Ala559=)
|
rs1057522460
|
|
NM_005629.4(SLC6A8):c.1683C>G (p.Gly561=)
|
|
|
NM_005629.4(SLC6A8):c.1689C>G (p.Ala563=)
|
rs2148364772
|
|
NM_005629.4(SLC6A8):c.1695C>G (p.Ala565=)
|
|
|
NM_005629.4(SLC6A8):c.1695C>T (p.Ala565=)
|
|
|
NM_005629.4(SLC6A8):c.1698G>T (p.Leu566=)
|
|
|
NM_005629.4(SLC6A8):c.1704C>T (p.Ser568=)
|
rs2148364807
|
|
NM_005629.4(SLC6A8):c.1708C>T (p.Leu570=)
|
rs1379981266
|
|
NM_005629.4(SLC6A8):c.1716G>A (p.Val572=)
|
|
|
NM_005629.4(SLC6A8):c.1725C>T (p.His575=)
|
rs2148364840
|
|
NM_005629.4(SLC6A8):c.1729C>T (p.Leu577=)
|
|
|
NM_005629.4(SLC6A8):c.1734C>T (p.Gly578=)
|
|
|
NM_005629.4(SLC6A8):c.1737C>T (p.Cys579=)
|
|
|
NM_005629.4(SLC6A8):c.174G>A (p.Gln58=)
|
rs1557043848
|
|
NM_005629.4(SLC6A8):c.1752G>A (p.Lys584=)
|
|
|
NM_005629.4(SLC6A8):c.1755C>T (p.Gly585=)
|
|
|
NM_005629.4(SLC6A8):c.1758C>T (p.Thr586=)
|
rs2148364882
|
|
NM_005629.4(SLC6A8):c.1767+10C>A
|
rs2148364923
|
|
NM_005629.4(SLC6A8):c.1767+10C>T
|
rs2148364923
|
|
NM_005629.4(SLC6A8):c.1767+11C>A
|
rs782709232
|
|
NM_005629.4(SLC6A8):c.1767+12G>A
|
|
|
NM_005629.4(SLC6A8):c.1767+12GCCCG[3]
|
|
|
NM_005629.4(SLC6A8):c.1767+13C>T
|
|
|
NM_005629.4(SLC6A8):c.1767+15C>A
|
|
|
NM_005629.4(SLC6A8):c.1767+15C>G
|
|
|
NM_005629.4(SLC6A8):c.1767+16_1767+24dup
|
|
|
NM_005629.4(SLC6A8):c.1767+16_1767+33del
|
rs781868894
|
|
NM_005629.4(SLC6A8):c.1767+19C>T
|
|
|
NM_005629.4(SLC6A8):c.1767+20C>A
|
|
|
NM_005629.4(SLC6A8):c.1767+20C>T
|
rs782612504
|
|
NM_005629.4(SLC6A8):c.1767+21_1767+29dup
|
|
|
NM_005629.4(SLC6A8):c.1767+7C>G
|
|
|
NM_005629.4(SLC6A8):c.1767+8T>C
|
|
|
NM_005629.4(SLC6A8):c.1768-11C>G
|
|
|
NM_005629.4(SLC6A8):c.1768-11C>T
|
rs2148365187
|
|
NM_005629.4(SLC6A8):c.1768-11CT[3]
|
rs782682148
|
|
NM_005629.4(SLC6A8):c.1768-11_1768-9del
|
|
|
NM_005629.4(SLC6A8):c.1768-13T>C
|
|
|
NM_005629.4(SLC6A8):c.1768-14C>G
|
rs2148365184
|
|
NM_005629.4(SLC6A8):c.1768-14C>T
|
|
|
NM_005629.4(SLC6A8):c.1768-15C>T
|
|
|
NM_005629.4(SLC6A8):c.1768-8_1768-7del
|
rs782682148
|
|
NM_005629.4(SLC6A8):c.1770C>T (p.Arg590=)
|
rs2091482104
|
|
NM_005629.4(SLC6A8):c.1785C>G (p.Thr595=)
|
rs1557045822
|
|
NM_005629.4(SLC6A8):c.1794C>A (p.Ile598=)
|
|
|
NM_005629.4(SLC6A8):c.1809C>T (p.His603=)
|
|
|
NM_005629.4(SLC6A8):c.1833A>C (p.Ala611=)
|
rs1557045848
|
|
NM_005629.4(SLC6A8):c.1833A>G (p.Ala611=)
|
rs1557045848
|
|
NM_005629.4(SLC6A8):c.1839C>T (p.Val613=)
|
rs2148365291
|
|
NM_005629.4(SLC6A8):c.183C>T (p.Phe61=)
|
rs2148358572
|
|
NM_005629.4(SLC6A8):c.1842G>A (p.Arg614=)
|
|
|
NM_005629.4(SLC6A8):c.1854C>A (p.Thr618=)
|
|
|
NM_005629.4(SLC6A8):c.1854C>T (p.Thr618=)
|
rs2091482761
|
|
NM_005629.4(SLC6A8):c.1855C>T (p.Leu619=)
|
rs1434101271
|
|
NM_005629.4(SLC6A8):c.1857G>C (p.Leu619=)
|
|
|
NM_005629.4(SLC6A8):c.1860C>T (p.Thr620=)
|
rs1557045857
|
|
NM_005629.4(SLC6A8):c.1863A>C (p.Pro621=)
|
|
|
NM_005629.4(SLC6A8):c.186C>T (p.Ile62=)
|
rs2148358582
|
|
NM_005629.4(SLC6A8):c.1887C>T (p.Val629=)
|
rs1485660118
|
|
NM_005629.4(SLC6A8):c.1899T>C (p.Ser633=)
|
rs2091483278
|
|
NM_005629.4(SLC6A8):c.18C>G (p.Ala6=)
|
rs1557043736
|
|
NM_005629.4(SLC6A8):c.18C>T (p.Ala6=)
|
|
|
NM_005629.4(SLC6A8):c.1902C>A (p.Val634=)
|
rs2148365403
|
|
NM_005629.4(SLC6A8):c.1902C>G (p.Val634=)
|
|
|
NM_005629.4(SLC6A8):c.192G>C (p.Ser64=)
|
|
|
NM_005629.4(SLC6A8):c.192G>T (p.Ser64=)
|
|
|
NM_005629.4(SLC6A8):c.198G>C (p.Val66=)
|
|
|
NM_005629.4(SLC6A8):c.207C>T (p.Ala69=)
|
|
|
NM_005629.4(SLC6A8):c.214T>C (p.Leu72=)
|
rs1603213021
|
|
NM_005629.4(SLC6A8):c.219C>T (p.Gly73=)
|
|
|
NM_005629.4(SLC6A8):c.225G>T (p.Val75=)
|
rs2148358619
|
|
NM_005629.4(SLC6A8):c.240C>T (p.Tyr80=)
|
rs2148358628
|
|
NM_005629.4(SLC6A8):c.258C>T (p.Gly86=)
|
|
|
NM_005629.4(SLC6A8):c.262+11C>T
|
|
|
NM_005629.4(SLC6A8):c.262+12C>T
|
|
|
NM_005629.4(SLC6A8):c.262+16C>T
|
|
|
NM_005629.4(SLC6A8):c.262+17G>C
|
|
|
NM_005629.4(SLC6A8):c.262+19C>T
|
|
|
NM_005629.4(SLC6A8):c.262+8C>T
|
|
|
NM_005629.4(SLC6A8):c.263-10C>T
|
|
|
NM_005629.4(SLC6A8):c.263-11T>C
|
|
|
NM_005629.4(SLC6A8):c.263-12C>T
|
|
|
NM_005629.4(SLC6A8):c.263-16G>A
|
rs1557044160
|
|
NM_005629.4(SLC6A8):c.263-18C>T
|
|
|
NM_005629.4(SLC6A8):c.263-20C>T
|
|
|
NM_005629.4(SLC6A8):c.263-6C>T
|
rs2148360091
|
|
NM_005629.4(SLC6A8):c.263-7C>T
|
rs2148360085
|
|
NM_005629.4(SLC6A8):c.263-9C>T
|
rs1557044163
|
|
NM_005629.4(SLC6A8):c.273T>C (p.Leu91=)
|
|
|
NM_005629.4(SLC6A8):c.276T>A (p.Ile92=)
|
|
|
NM_005629.4(SLC6A8):c.288G>A (p.Leu96=)
|
rs2091448699
|
|
NM_005629.4(SLC6A8):c.294C>T (p.Ala98=)
|
rs2148360122
|
|
NM_005629.4(SLC6A8):c.30C>T (p.Ile10=)
|
rs1057522627
|
|
NM_005629.4(SLC6A8):c.315T>C (p.Ile105=)
|
rs2148360127
|
|
NM_005629.4(SLC6A8):c.324A>G (p.Leu108=)
|
|
|
NM_005629.4(SLC6A8):c.333G>A (p.Ser111=)
|
rs781916894
|
|
NM_005629.4(SLC6A8):c.333G>T (p.Ser111=)
|
|
|
NM_005629.4(SLC6A8):c.334C>T (p.Leu112=)
|
|
|
NM_005629.4(SLC6A8):c.336G>A (p.Leu112=)
|
|
|
NM_005629.4(SLC6A8):c.354C>G (p.Ala118=)
|
rs1557044183
|
|
NM_005629.4(SLC6A8):c.354C>T (p.Ala118=)
|
rs1557044183
|
|
NM_005629.4(SLC6A8):c.366T>C (p.Asn122=)
|
|
|
NM_005629.4(SLC6A8):c.390C>T (p.Phe130=)
|
rs2148360178
|
|
NM_005629.4(SLC6A8):c.394+10C>T
|
rs2148360189
|
|
NM_005629.4(SLC6A8):c.394+11dup
|
rs782774761
|
|
NM_005629.4(SLC6A8):c.394+17C>G
|
|
|
NM_005629.4(SLC6A8):c.394+22_394+42del
|
rs2091449313
|
|
NM_005629.4(SLC6A8):c.395-13T>C
|
|
|
NM_005629.4(SLC6A8):c.395-7G>A
|
rs2148360949
|
|
NM_005629.4(SLC6A8):c.397C>G (p.Leu133Val)
|
|
|
NM_005629.4(SLC6A8):c.39G>A (p.Val13=)
|
rs2148358354
|
|
NM_005629.4(SLC6A8):c.420C>T (p.Ile140=)
|
rs2091455049
|
|
NM_005629.4(SLC6A8):c.429C>T (p.Tyr143=)
|
rs2148360995
|
|
NM_005629.4(SLC6A8):c.42C>T (p.Ser14=)
|
rs1060504719
|
|
NM_005629.4(SLC6A8):c.444C>T (p.Tyr148=)
|
|
|
NM_005629.4(SLC6A8):c.447C>T (p.Ile149=)
|
rs1177945832
|
|
NM_005629.4(SLC6A8):c.454C>T (p.Leu152=)
|
rs1603215008
|
|
NM_005629.4(SLC6A8):c.468C>T (p.Phe156=)
|
|
|
NM_005629.4(SLC6A8):c.471T>C (p.Tyr157=)
|
rs1057521561
|
|
NM_005629.4(SLC6A8):c.486C>G (p.Ser162=)
|
rs1414869177
|
|
NM_005629.4(SLC6A8):c.48C>T (p.Asp16=)
|
rs1057524586
|
|
NM_005629.4(SLC6A8):c.492C>G (p.Thr164=)
|
rs1430194297
|
|
NM_005629.4(SLC6A8):c.501G>A (p.Leu167=)
|
|
|
NM_005629.4(SLC6A8):c.510C>T (p.Ala170=)
|
rs2148361041
|
|
NM_005629.4(SLC6A8):c.513A>G (p.Thr171=)
|
|
|
NM_005629.4(SLC6A8):c.516T>C (p.Cys172=)
|
rs1480583650
|
|
NM_005629.4(SLC6A8):c.531C>T (p.Asn177=)
|
|
|
NM_005629.4(SLC6A8):c.537C>G (p.Pro179=)
|
|
|
NM_005629.4(SLC6A8):c.54G>A (p.Lys18=)
|
rs1261794545
|
|
NM_005629.4(SLC6A8):c.564A>G (p.Glu188=)
|
|
|
NM_005629.4(SLC6A8):c.573C>G (p.Ala191=)
|
|
|
NM_005629.4(SLC6A8):c.576T>C (p.Asn192=)
|
|
|
NM_005629.4(SLC6A8):c.585G>C (p.Leu195=)
|
|
|
NM_005629.4(SLC6A8):c.600T>C (p.Cys200=)
|
rs2148361124
|
|
NM_005629.4(SLC6A8):c.606G>A (p.Gln202=)
|
rs2148361132
|
|
NM_005629.4(SLC6A8):c.60C>G (p.Gly20=)
|
|
|
NM_005629.4(SLC6A8):c.60C>T (p.Gly20=)
|
|
|
NM_005629.4(SLC6A8):c.611_612delinsAC (p.Ala204Asp)
|
rs1569539288
|
|
NM_005629.4(SLC6A8):c.612T>C (p.Ala204=)
|
|
|
NM_005629.4(SLC6A8):c.615C>T (p.Asp205=)
|
rs1603215203
|
|
NM_005629.4(SLC6A8):c.618C>T (p.Arg206=)
|
rs2091456011
|
|
NM_005629.4(SLC6A8):c.627T>G (p.Pro209=)
|
rs1057521539
|
|
NM_005629.4(SLC6A8):c.644+10G>T
|
rs2148361214
|
|
NM_005629.4(SLC6A8):c.644+12A>T
|
|
|
NM_005629.4(SLC6A8):c.644+14C>G
|
rs782270185
|
|
NM_005629.4(SLC6A8):c.644+14C>T
|
|
|
NM_005629.4(SLC6A8):c.644+16C>G
|
|
|
NM_005629.4(SLC6A8):c.644+8C>A
|
rs782433720
|
|
NM_005629.4(SLC6A8):c.644+9G>A
|
rs200353790
|
|
NM_005629.4(SLC6A8):c.645-12T>A
|
|
|
NM_005629.4(SLC6A8):c.645-18CCTC[4]
|
|
|
NM_005629.4(SLC6A8):c.645-19A>G
|
rs2148361615
|
|
NM_005629.4(SLC6A8):c.645-4C>T
|
rs2148361633
|
|
NM_005629.4(SLC6A8):c.645-6C>A
|
|
|
NM_005629.4(SLC6A8):c.645-6C>G
|
rs377181706
|
|
NM_005629.4(SLC6A8):c.654C>G (p.Val218=)
|
|
|
NM_005629.4(SLC6A8):c.655T>C (p.Leu219=)
|
|
|
NM_005629.4(SLC6A8):c.661C>T (p.Leu221=)
|
|
|
NM_005629.4(SLC6A8):c.66C>T (p.Leu22=)
|
rs2148358395
|
|
NM_005629.4(SLC6A8):c.672A>G (p.Gly224=)
|
rs1569539299
|
|
NM_005629.4(SLC6A8):c.687G>T (p.Gly229=)
|
|
|
NM_005629.4(SLC6A8):c.6G>A (p.Ala2=)
|
|
|
NM_005629.4(SLC6A8):c.702G>A (p.Glu234=)
|
|
|
NM_005629.4(SLC6A8):c.711T>G (p.Leu237=)
|
|
|
NM_005629.4(SLC6A8):c.715C>T (p.Leu239=)
|
|
|
NM_005629.4(SLC6A8):c.72G>T (p.Ala24=)
|
rs1295513059
|
|
NM_005629.4(SLC6A8):c.759G>T (p.Gly253=)
|
rs2148361726
|
|
NM_005629.4(SLC6A8):c.75C>G (p.Pro25=)
|
rs1603212933
|
|
NM_005629.4(SLC6A8):c.777+7C>G
|
|
|
NM_005629.4(SLC6A8):c.777+8T>C
|
|
|
NM_005629.4(SLC6A8):c.777+9_777+16dup
|
rs782370799
|
|
NM_005629.4(SLC6A8):c.778-11T>C
|
|
|
NM_005629.4(SLC6A8):c.778-14G>T
|
|
|
NM_005629.4(SLC6A8):c.778-4C>G
|
rs2091465775
|
|
NM_005629.4(SLC6A8):c.778-8C>T
|
rs781860529
|
|
NM_005629.4(SLC6A8):c.783G>A (p.Val261=)
|
|
|
NM_005629.4(SLC6A8):c.783G>C (p.Val261=)
|
rs561103166
|
|
NM_005629.4(SLC6A8):c.792T>C (p.Thr264=)
|
rs1224242554
|
|
NM_005629.4(SLC6A8):c.798A>G (p.Thr266=)
|
rs2148362721
|
|
NM_005629.4(SLC6A8):c.798A>T (p.Thr266=)
|
rs2148362721
|
|
NM_005629.4(SLC6A8):c.801C>T (p.Phe267=)
|
rs2148362725
|
|
NM_005629.4(SLC6A8):c.825G>A (p.Leu275=)
|
|
|
NM_005629.4(SLC6A8):c.837A>C (p.Gly279=)
|
|
|
NM_005629.4(SLC6A8):c.838G>T (p.Val280Leu)
|
|
|
NM_005629.4(SLC6A8):c.840G>T (p.Val280=)
|
|
|
NM_005629.4(SLC6A8):c.84C>T (p.Asp28=)
|
rs2148358417
|
|
NM_005629.4(SLC6A8):c.856C>G (p.Leu286Val)
|
rs782005985
|
|
NM_005629.4(SLC6A8):c.894A>G (p.Ser298=)
|
|
|
NM_005629.4(SLC6A8):c.903G>A (p.Gly301=)
|
rs2091466505
|
|
NM_005629.4(SLC6A8):c.903G>T (p.Gly301=)
|
rs2091466505
|
|
NM_005629.4(SLC6A8):c.912+19G>C
|
|
|
NM_005629.4(SLC6A8):c.912+3GAGGTG[3]
|
rs782675060
|
|
NM_005629.4(SLC6A8):c.912+9G>C
|
rs782694291
|
|
NM_005629.4(SLC6A8):c.913-10C>G
|
|
|
NM_005629.4(SLC6A8):c.913-13G>A
|
|
|
NM_005629.4(SLC6A8):c.913-19C>A
|
|
|
NM_005629.4(SLC6A8):c.913-20G>A
|
|
|
NM_005629.4(SLC6A8):c.927G>C (p.Ala309=)
|
|
|
NM_005629.4(SLC6A8):c.930G>A (p.Gly310=)
|
rs2148362930
|
|
NM_005629.4(SLC6A8):c.936G>A (p.Gln312=)
|
|
|
NM_005629.4(SLC6A8):c.939T>A (p.Ile313=)
|
|
|
NM_005629.4(SLC6A8):c.93G>A (p.Pro31=)
|
rs782197450
|
|
NM_005629.4(SLC6A8):c.963G>C (p.Leu321=)
|
|
|
NM_005629.4(SLC6A8):c.96C>G (p.Ala32=)
|
|
|
NM_005629.4(SLC6A8):c.981G>A (p.Leu327=)
|
rs1569539360
|
|
NM_005629.4(SLC6A8):c.984C>G (p.Gly328=)
|
rs1276576915
|
|
NM_005629.4(SLC6A8):c.984C>T (p.Gly328=)
|
|
|
NM_005629.4(SLC6A8):c.990C>T (p.Tyr330=)
|
rs1057523301
|
|
NM_005629.4(SLC6A8):c.9G>A (p.Lys3=)
|
rs2148358311
|
|
NM_005881.4(BCKDK):c.1065T>C (p.His355=)
|
rs1381365816
|
|
NM_005881.4(BCKDK):c.1094+7C>A
|
|
|
NM_005881.4(BCKDK):c.1182G>A (p.Thr394=)
|
|
|
NM_005881.4(BCKDK):c.1195C>A (p.Arg399=)
|
|
|
NM_005881.4(BCKDK):c.195+10G>A
|
rs1467318514
|
|
NM_005881.4(BCKDK):c.196-14del
|
|
|
NM_005881.4(BCKDK):c.196-4C>T
|
|
|
NM_005881.4(BCKDK):c.219C>G (p.Thr73=)
|
|
|
NM_005881.4(BCKDK):c.375+14G>A
|
|
|
NM_005881.4(BCKDK):c.376-13C>T
|
|
|
NM_005881.4(BCKDK):c.384A>G (p.Leu128=)
|
|
|
NM_005881.4(BCKDK):c.424-18T>C
|
|
|
NM_005881.4(BCKDK):c.424-20C>T
|
|
|
NM_005881.4(BCKDK):c.516C>A (p.Gly172=)
|
|
|
NM_005881.4(BCKDK):c.519A>G (p.Leu173=)
|
|
|
NM_005881.4(BCKDK):c.54G>A (p.Arg18=)
|
|
|
NM_005881.4(BCKDK):c.555C>T (p.Leu185=)
|
|
|
NM_005881.4(BCKDK):c.561C>T (p.Arg187=)
|
|
|
NM_005881.4(BCKDK):c.645T>G (p.Pro215=)
|
|
|
NM_005881.4(BCKDK):c.716+18C>T
|
|
|
NM_005881.4(BCKDK):c.78G>C (p.Ala26=)
|
rs527999176
|
|
NM_005881.4(BCKDK):c.846-8C>T
|
|
|
NM_005881.4(BCKDK):c.936-11C>A
|
|
|
NM_005881.4(BCKDK):c.960C>T (p.Ile320=)
|
|
|
NM_005881.4(BCKDK):c.972T>C (p.Asp324=)
|
|
|
NM_005957.5(MTHFR):c.1008G>A (p.Leu336=)
|
rs2100530121
|
|
NM_005957.5(MTHFR):c.1023G>A (p.Glu341=)
|
|
|
NM_005957.5(MTHFR):c.1026C>T (p.Asp342=)
|
rs763896620
|
|
NM_005957.5(MTHFR):c.1029C>T (p.Pro343=)
|
|
|
NM_005957.5(MTHFR):c.1031+12G>A
|
|
|
NM_005957.5(MTHFR):c.1031+15C>T
|
|
|
NM_005957.5(MTHFR):c.1031+20G>A
|
|
|
NM_005957.5(MTHFR):c.1031+8C>T
|
|
|
NM_005957.5(MTHFR):c.1032-11T>A
|
|
|
NM_005957.5(MTHFR):c.1032-12A>T
|
|
|
NM_005957.5(MTHFR):c.1032-14C>T
|
|
|
NM_005957.5(MTHFR):c.1032-16C>T
|
|
|
NM_005957.5(MTHFR):c.1032-17del
|
|
|
NM_005957.5(MTHFR):c.1032-20C>T
|
|
|
NM_005957.5(MTHFR):c.1032-4C>T
|
rs943653758
|
|
NM_005957.5(MTHFR):c.1032-7C>T
|
|
|
NM_005957.5(MTHFR):c.1038C>T (p.Pro346=)
|
|
|
NM_005957.5(MTHFR):c.1059C>T (p.Ala353=)
|
rs2100528167
|
|
NM_005957.5(MTHFR):c.105G>C (p.Pro35=)
|
|
|
NM_005957.5(MTHFR):c.105G>T (p.Pro35=)
|
|
|
NM_005957.5(MTHFR):c.1083T>C (p.Asp361=)
|
rs1486854528
|
|
NM_005957.5(MTHFR):c.1089T>A (p.Arg363=)
|
rs2100527802
|
|
NM_005957.5(MTHFR):c.1108A>C (p.Arg370=)
|
rs2100527712
|
|
NM_005957.5(MTHFR):c.1113A>G (p.Pro371=)
|
rs2100527693
|
|
NM_005957.5(MTHFR):c.111G>A (p.Leu37=)
|
rs1553188013
|
|
NM_005957.5(MTHFR):c.1125C>T (p.Ile375=)
|
|
|
NM_005957.5(MTHFR):c.1166+12C>T
|
|
|
NM_005957.5(MTHFR):c.1166+18T>C
|
|
|
NM_005957.5(MTHFR):c.1166+7G>A
|
|
|
NM_005957.5(MTHFR):c.1166+8C>T
|
|
|
NM_005957.5(MTHFR):c.1166+9C>T
|
|
|
NM_005957.5(MTHFR):c.1167-12C>T
|
|
|
NM_005957.5(MTHFR):c.1167-14C>A
|
|
|
NM_005957.5(MTHFR):c.1167-14C>T
|
|
|
NM_005957.5(MTHFR):c.1167-18T>C
|
|
|
NM_005957.5(MTHFR):c.1167-7C>T
|
|
|
NM_005957.5(MTHFR):c.1188C>T (p.Ala396=)
|
rs771601940
|
|
NM_005957.5(MTHFR):c.1197G>A (p.Glu399=)
|
rs1367495674
|
|
NM_005957.5(MTHFR):c.120G>A (p.Glu40=)
|
rs1394958095
|
|
NM_005957.5(MTHFR):c.121C>A (p.Arg41=)
|
|
|
NM_005957.5(MTHFR):c.1221C>T (p.Tyr407=)
|
rs2100525246
|
|
NM_005957.5(MTHFR):c.1233G>A (p.Lys411=)
|
|
|
NM_005957.5(MTHFR):c.1245G>A (p.Glu415=)
|
|
|
NM_005957.5(MTHFR):c.1248G>A (p.Glu416=)
|
rs2100524560
|
|
NM_005957.5(MTHFR):c.1266G>A (p.Gly422=)
|
rs2100524088
|
|
NM_005957.5(MTHFR):c.1275G>A (p.Leu425=)
|
|
|
NM_005957.5(MTHFR):c.1278C>G (p.Thr426=)
|
rs2100523738
|
|
NM_005957.5(MTHFR):c.1278C>T (p.Thr426=)
|
|
|
NM_005957.5(MTHFR):c.1290T>C (p.Ser430=)
|
|
|
NM_005957.5(MTHFR):c.1293C>G (p.Val431=)
|
|
|
NM_005957.5(MTHFR):c.1329A>C (p.Pro443=)
|
rs2100522480
|
|
NM_005957.5(MTHFR):c.1332C>T (p.Asn444=)
|
|
|
NM_005957.5(MTHFR):c.1335G>C (p.Arg445=)
|
|
|
NM_005957.5(MTHFR):c.1344C>T (p.His448=)
|
rs745497522
|
|
NM_005957.5(MTHFR):c.1347+14_1347+80del
|
|
|
NM_005957.5(MTHFR):c.1347+16G>T
|
|
|
NM_005957.5(MTHFR):c.1347+9T>C
|
|
|
NM_005957.5(MTHFR):c.1348-12C>T
|
|
|
NM_005957.5(MTHFR):c.1348-15C>G
|
|
|
NM_005957.5(MTHFR):c.1348-15C>T
|
|
|
NM_005957.5(MTHFR):c.1348-17C>T
|
|
|
NM_005957.5(MTHFR):c.1348-4C>G
|
rs2100519965
|
|
NM_005957.5(MTHFR):c.1348-5C>T
|
rs1644192802
|
|
NM_005957.5(MTHFR):c.1357C>T (p.Leu453=)
|
|
|
NM_005957.5(MTHFR):c.1362C>G (p.Pro454=)
|
rs1570472454
|
|
NM_005957.5(MTHFR):c.136C>A (p.Arg46=)
|
rs138189536
|
|
NM_005957.5(MTHFR):c.1374G>A (p.Glu458=)
|
|
|
NM_005957.5(MTHFR):c.1380G>A (p.Leu460=)
|
|
|
NM_005957.5(MTHFR):c.1386T>A (p.Ala462=)
|
|
|
NM_005957.5(MTHFR):c.138G>A (p.Arg46=)
|
|
|
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu)
|
rs886043349
|
|
NM_005957.5(MTHFR):c.1416G>T (p.Leu472=)
|
rs2100519362
|
|
NM_005957.5(MTHFR):c.1425C>T (p.Asn475=)
|
|
|
NM_005957.5(MTHFR):c.1428C>T (p.Arg476=)
|
|
|
NM_005957.5(MTHFR):c.1440C>T (p.Leu480=)
|
rs1644188527
|
|
NM_005957.5(MTHFR):c.1455G>A (p.Gln485=)
|
rs545002537
|
|
NM_005957.5(MTHFR):c.1458C>T (p.Pro486=)
|
rs2100518947
|
|
NM_005957.5(MTHFR):c.1470G>A (p.Gly490=)
|
rs2100518831
|
|
NM_005957.5(MTHFR):c.1479C>G (p.Ser493=)
|
|
|
NM_005957.5(MTHFR):c.1485C>T (p.Asp495=)
|
|
|
NM_005957.5(MTHFR):c.1503C>A (p.Gly501=)
|
|
|
NM_005957.5(MTHFR):c.1509C>T (p.Ser503=)
|
|
|
NM_005957.5(MTHFR):c.1515C>T (p.Gly505=)
|
rs376927238
|
|
NM_005957.5(MTHFR):c.1518T>C (p.Tyr506=)
|
rs2100518329
|
|
NM_005957.5(MTHFR):c.1530+14G>A
|
|
|
NM_005957.5(MTHFR):c.1530+17C>T
|
|
|
NM_005957.5(MTHFR):c.1530+18G>A
|
|
|
NM_005957.5(MTHFR):c.1530+19G>A
|
|
|
NM_005957.5(MTHFR):c.1530+7T>C
|
|
|
NM_005957.5(MTHFR):c.1530+8A>G
|
rs772858015
|
|
NM_005957.5(MTHFR):c.1530+8A>T
|
rs772858015
|
|
NM_005957.5(MTHFR):c.1531-11C>G
|
|
|
NM_005957.5(MTHFR):c.1531-16C>G
|
|
|
NM_005957.5(MTHFR):c.1531-19G>A
|
|
|
NM_005957.5(MTHFR):c.1531-7C>T
|
rs777858766
|
|
NM_005957.5(MTHFR):c.1531-8T>C
|
rs2100507748
|
|
NM_005957.5(MTHFR):c.1533C>G (p.Ala511=)
|
|
|
NM_005957.5(MTHFR):c.1536C>T (p.Tyr512=)
|
|
|
NM_005957.5(MTHFR):c.1542G>A (p.Glu514=)
|
|
|
NM_005957.5(MTHFR):c.1557C>A (p.Arg519=)
|
rs780544969
|
|
NM_005957.5(MTHFR):c.1557C>T (p.Arg519=)
|
rs780544969
|
|
NM_005957.5(MTHFR):c.1563A>G (p.Thr521=)
|
rs2100507296
|
|
NM_005957.5(MTHFR):c.1575T>G (p.Leu525=)
|
|
|
NM_005957.5(MTHFR):c.1578G>A (p.Leu526=)
|
|
|
NM_005957.5(MTHFR):c.1584G>A (p.Val528=)
|
|
|
NM_005957.5(MTHFR):c.1593G>A (p.Lys531=)
|
rs113615972
|
|
NM_005957.5(MTHFR):c.1605G>A (p.Arg535=)
|
|
|
NM_005957.5(MTHFR):c.1611T>C (p.Asn537=)
|
rs796064511
|
|
NM_005957.5(MTHFR):c.162A>G (p.Glu54=)
|
rs753692902
|
|
NM_005957.5(MTHFR):c.1632+10G>T
|
|
|
NM_005957.5(MTHFR):c.1632+11C>T
|
|
|
NM_005957.5(MTHFR):c.1632+13C>T
|
|
|
NM_005957.5(MTHFR):c.1632+15A>G
|
|
|
NM_005957.5(MTHFR):c.1632+35G>C
|
|
|
NM_005957.5(MTHFR):c.1632+9G>C
|
|
|
NM_005957.5(MTHFR):c.1633-10A>C
|
|
|
NM_005957.5(MTHFR):c.1633-15_1633-14delinsTT
|
|
|
NM_005957.5(MTHFR):c.1633-18C>A
|
|
|
NM_005957.5(MTHFR):c.1633-20C>A
|
|
|
NM_005957.5(MTHFR):c.1633-5C>T
|
|
|
NM_005957.5(MTHFR):c.1633-7C>A
|
|
|
NM_005957.5(MTHFR):c.1633-7C>T
|
rs776084278
|
|
NM_005957.5(MTHFR):c.1650T>C (p.Asn550=)
|
rs2100499565
|
|
NM_005957.5(MTHFR):c.1668G>T (p.Pro556=)
|
rs778486116
|
|
NM_005957.5(MTHFR):c.1674T>C (p.Ala558=)
|
rs933241629
|
|
NM_005957.5(MTHFR):c.1677C>T (p.Val559=)
|
rs754425084
|
|
NM_005957.5(MTHFR):c.1680T>C (p.Thr560=)
|
rs1644095203
|
|
NM_005957.5(MTHFR):c.1686C>T (p.Gly562=)
|
|
|
NM_005957.5(MTHFR):c.168T>C (p.Gly56=)
|
|
|
NM_005957.5(MTHFR):c.1698G>A (p.Gly566=)
|
rs2100499222
|
|
NM_005957.5(MTHFR):c.1701A>G (p.Arg567=)
|
|
|
NM_005957.5(MTHFR):c.1704G>A (p.Glu568=)
|
rs1644094379
|
|
NM_005957.5(MTHFR):c.171C>T (p.Asp57=)
|
rs1570497974
|
|
NM_005957.5(MTHFR):c.1722A>G (p.Val574=)
|
rs936532190
|
|
NM_005957.5(MTHFR):c.1737C>T (p.Ser579=)
|
|
|
NM_005957.5(MTHFR):c.1752+12G>T
|
|
|
NM_005957.5(MTHFR):c.1752+16G>C
|
|
|
NM_005957.5(MTHFR):c.1753-10GT[6]
|
|
|
NM_005957.5(MTHFR):c.1753-12_1753-9dup
|
rs1644075708
|
|
NM_005957.5(MTHFR):c.1753-13T>C
|
|
|
NM_005957.5(MTHFR):c.1753-14G>A
|
|
|
NM_005957.5(MTHFR):c.1753-15G>C
|
|
|
NM_005957.5(MTHFR):c.1753-18G>T
|
|
|
NM_005957.5(MTHFR):c.1753-19C>T
|
|
|
NM_005957.5(MTHFR):c.1753-20G>T
|
|
|
NM_005957.5(MTHFR):c.1753-25TG[2]
|
rs751611452
|
|
NM_005957.5(MTHFR):c.1753-34_1753-19dup
|
|
|
NM_005957.5(MTHFR):c.1753-37_1753-20dup
|
|
|
NM_005957.5(MTHFR):c.1753-4G>A
|
|
|
NM_005957.5(MTHFR):c.1753-4G>T
|
rs543808715
|
|
NM_005957.5(MTHFR):c.1753-8G>C
|
|
|
NM_005957.5(MTHFR):c.1767C>T (p.Ala589=)
|
|
|
NM_005957.5(MTHFR):c.1788A>G (p.Gly596=)
|
rs776182425
|
|
NM_005957.5(MTHFR):c.1803G>A (p.Glu601=)
|
|
|
NM_005957.5(MTHFR):c.1806G>A (p.Glu602=)
|
rs2100494839
|
|
NM_005957.5(MTHFR):c.1815C>T (p.Ser605=)
|
rs1293653587
|
|
NM_005957.5(MTHFR):c.1830G>A (p.Gln610=)
|
|
|
NM_005957.5(MTHFR):c.1832A>G (p.Tyr611Cys)
|
rs756615138
|
|
NM_005957.5(MTHFR):c.1833C>T (p.Tyr611=)
|
|
|
NM_005957.5(MTHFR):c.1836C>T (p.Ile612=)
|
rs2100494373
|
|
NM_005957.5(MTHFR):c.183C>G (p.Ser61=)
|
rs2100577499
|
|
NM_005957.5(MTHFR):c.1845C>T (p.Asn615=)
|
|
|
NM_005957.5(MTHFR):c.1863G>C (p.Leu621=)
|
rs2100494045
|
|
NM_005957.5(MTHFR):c.1866G>A (p.Val622=)
|
|
|
NM_005957.5(MTHFR):c.1875C>T (p.Asp625=)
|
rs2100493955
|
|
NM_005957.5(MTHFR):c.1878C>T (p.Phe626=)
|
|
|
NM_005957.5(MTHFR):c.1896C>T (p.Leu632=)
|
rs1360182594
|
|
NM_005957.5(MTHFR):c.1902G>A (p.Gln634=)
|
rs2100493744
|
|
NM_005957.5(MTHFR):c.1905G>A (p.Val635=)
|
rs1383645963
|
|
NM_005957.5(MTHFR):c.1918T>C (p.Leu640=)
|
rs558230616
|
|
NM_005957.5(MTHFR):c.1944G>A (p.Gln648=)
|
|
|
NM_005957.5(MTHFR):c.1947T>C (p.Asn649=)
|
rs2100493398
|
|
NM_005957.5(MTHFR):c.1950G>A (p.Ala650=)
|
rs1300052327
|
|
NM_005957.5(MTHFR):c.1953A>G (p.Arg651=)
|
rs2100493280
|
|
NM_005957.5(MTHFR):c.1970G>A (p.Ter657=)
|
rs749490263
|
|
NM_005957.5(MTHFR):c.225T>C (p.Asn75=)
|
rs2100577290
|
|
NM_005957.5(MTHFR):c.228C>T (p.Leu76=)
|
rs2100577261
|
|
NM_005957.5(MTHFR):c.234A>G (p.Ser78=)
|
rs771782125
|
|
NM_005957.5(MTHFR):c.236+10T>C
|
|
|
NM_005957.5(MTHFR):c.236+13A>G
|
|
|
NM_005957.5(MTHFR):c.236+15G>A
|
rs2100577025
|
|
NM_005957.5(MTHFR):c.236+20A>T
|
|
|
NM_005957.5(MTHFR):c.236+7T>A
|
|
|
NM_005957.5(MTHFR):c.236+9A>C
|
rs1253089753
|
|
NM_005957.5(MTHFR):c.236+9A>T
|
rs1253089753
|
|
NM_005957.5(MTHFR):c.237-10C>A
|
|
|
NM_005957.5(MTHFR):c.237-15A>G
|
|
|
NM_005957.5(MTHFR):c.237-20C>T
|
|
|
NM_005957.5(MTHFR):c.237-4A>G
|
rs1372519713
|
|
NM_005957.5(MTHFR):c.237-8C>T
|
|
|
NM_005957.5(MTHFR):c.243C>T (p.Asp81=)
|
|
|
NM_005957.5(MTHFR):c.261C>T (p.Gly87=)
|
|
|
NM_005957.5(MTHFR):c.264C>T (p.Pro88=)
|
rs1311706078
|
|
NM_005957.5(MTHFR):c.273A>C (p.Ile91=)
|
|
|
NM_005957.5(MTHFR):c.288C>T (p.His96=)
|
rs748688171
|
|
NM_005957.5(MTHFR):c.315G>A (p.Lys105=)
|
rs2100568147
|
|
NM_005957.5(MTHFR):c.318G>A (p.Glu106=)
|
rs2100568106
|
|
NM_005957.5(MTHFR):c.324C>A (p.Ser108=)
|
|
|
NM_005957.5(MTHFR):c.339C>G (p.Ala113=)
|
|
|
NM_005957.5(MTHFR):c.339C>T (p.Ala113=)
|
|
|
NM_005957.5(MTHFR):c.345C>A (p.Thr115=)
|
rs2066461
|
|
NM_005957.5(MTHFR):c.345C>T (p.Thr115=)
|
rs2066461
|
|
NM_005957.5(MTHFR):c.348C>G (p.Ala116=)
|
|
|
NM_005957.5(MTHFR):c.354C>T (p.Asn118=)
|
|
|
NM_005957.5(MTHFR):c.357C>T (p.Tyr119=)
|
|
|
NM_005957.5(MTHFR):c.36C>T (p.Asn12=)
|
rs1046343781
|
|
NM_005957.5(MTHFR):c.387C>T (p.Thr129=)
|
|
|
NM_005957.5(MTHFR):c.390C>T (p.Cys130=)
|
rs1185978577
|
|
NM_005957.5(MTHFR):c.402C>A (p.Arg134=)
|
rs2100567232
|
|
NM_005957.5(MTHFR):c.408G>A (p.Glu136=)
|
|
|
NM_005957.5(MTHFR):c.417G>C (p.Thr139=)
|
rs2066466
|
|
NM_005957.5(MTHFR):c.417G>T (p.Thr139=)
|
rs2066466
|
|
NM_005957.5(MTHFR):c.426G>T (p.Leu142=)
|
rs1553187352
|
|
NM_005957.5(MTHFR):c.42C>T (p.Cys14=)
|
|
|
NM_005957.5(MTHFR):c.43T>C (p.Leu15=)
|
rs2100578574
|
|
NM_005957.5(MTHFR):c.444G>T (p.Leu148=)
|
rs1644375978
|
|
NM_005957.5(MTHFR):c.447C>T (p.Gly149=)
|
|
|
NM_005957.5(MTHFR):c.448C>T (p.Leu150=)
|
rs2100566876
|
|
NM_005957.5(MTHFR):c.456C>T (p.Asn152=)
|
rs2100566808
|
|
NM_005957.5(MTHFR):c.465G>A (p.Ala155=)
|
rs566125423
|
|
NM_005957.5(MTHFR):c.465G>T (p.Ala155=)
|
rs566125423
|
|
NM_005957.5(MTHFR):c.469C>A (p.Arg157=)
|
rs776195746
|
|
NM_005957.5(MTHFR):c.475+10C>T
|
|
|
NM_005957.5(MTHFR):c.475+17C>A
|
|
|
NM_005957.5(MTHFR):c.475+8G>A
|
|
|
NM_005957.5(MTHFR):c.476-13A>G
|
|
|
NM_005957.5(MTHFR):c.476-6C>T
|
rs1219357233
|
|
NM_005957.5(MTHFR):c.476-8C>T
|
rs1282906772
|
|
NM_005957.5(MTHFR):c.48G>A (p.Glu16=)
|
|
|
NM_005957.5(MTHFR):c.507G>A (p.Glu169=)
|
|
|
NM_005957.5(MTHFR):c.516C>T (p.Phe172=)
|
|
|
NM_005957.5(MTHFR):c.519C>T (p.Asn173=)
|
|
|
NM_005957.5(MTHFR):c.531C>T (p.Asp177=)
|
rs2100561654
|
|
NM_005957.5(MTHFR):c.576C>A (p.Ile192=)
|
|
|
NM_005957.5(MTHFR):c.57C>A (p.Ala19=)
|
rs2100578481
|
|
NM_005957.5(MTHFR):c.586+11G>A
|
|
|
NM_005957.5(MTHFR):c.586+15C>T
|
|
|
NM_005957.5(MTHFR):c.586+18C>G
|
|
|
NM_005957.5(MTHFR):c.586+20T>C
|
|
|
NM_005957.5(MTHFR):c.587-11C>T
|
|
|
NM_005957.5(MTHFR):c.587-12C>A
|
|
|
NM_005957.5(MTHFR):c.587-12C>T
|
|
|
NM_005957.5(MTHFR):c.587-14A>G
|
|
|
NM_005957.5(MTHFR):c.587-15C>T
|
|
|
NM_005957.5(MTHFR):c.587-19C>T
|
|
|
NM_005957.5(MTHFR):c.587-4G>A
|
|
|
NM_005957.5(MTHFR):c.587-7T>C
|
rs775136816
|
|
NM_005957.5(MTHFR):c.587-8A>C
|
|
|
NM_005957.5(MTHFR):c.587-9T>C
|
|
|
NM_005957.5(MTHFR):c.594C>G (p.Pro198=)
|
rs2100541366
|
|
NM_005957.5(MTHFR):c.603C>T (p.His201=)
|
rs964885613
|
|
NM_005957.5(MTHFR):c.606C>G (p.Pro202=)
|
rs13306554
|
|
NM_005957.5(MTHFR):c.60C>T (p.Ser20=)
|
|
|
NM_005957.5(MTHFR):c.615G>A (p.Gly205=)
|
rs779138021
|
|
NM_005957.5(MTHFR):c.621T>C (p.Phe207=)
|
|
|
NM_005957.5(MTHFR):c.624G>A (p.Glu208=)
|
rs2100540661
|
|
NM_005957.5(MTHFR):c.651G>A (p.Lys217=)
|
rs1644255213
|
|
NM_005957.5(MTHFR):c.657T>G (p.Ser219=)
|
rs2100539860
|
|
NM_005957.5(MTHFR):c.665_666delinsTT (p.Ala222Val)
|
|
|
NM_005957.5(MTHFR):c.675C>T (p.Ile225=)
|
rs1644254284
|
|
NM_005957.5(MTHFR):c.678C>A (p.Ile226=)
|
|
|
NM_005957.5(MTHFR):c.681G>C (p.Thr227=)
|
rs774825800
|
|
NM_005957.5(MTHFR):c.687T>C (p.Leu229=)
|
|
|
NM_005957.5(MTHFR):c.690C>T (p.Phe230=)
|
rs2100539064
|
|
NM_005957.5(MTHFR):c.699T>C (p.Ala233=)
|
|
|
NM_005957.5(MTHFR):c.714C>G (p.Arg238=)
|
|
|
NM_005957.5(MTHFR):c.717T>C (p.Phe239=)
|
|
|
NM_005957.5(MTHFR):c.774C>T (p.Pro258=)
|
rs777367515
|
|
NM_005957.5(MTHFR):c.780+11C>T
|
|
|
NM_005957.5(MTHFR):c.780+13G>A
|
|
|
NM_005957.5(MTHFR):c.780+16G>A
|
|
|
NM_005957.5(MTHFR):c.780+18G>T
|
|
|
NM_005957.5(MTHFR):c.780+8G>A
|
rs771375720
|
|
NM_005957.5(MTHFR):c.781-10dup
|
rs2100532208
|
|
NM_005957.5(MTHFR):c.781-13A>G
|
|
|
NM_005957.5(MTHFR):c.781-13A>T
|
|
|
NM_005957.5(MTHFR):c.781-14C>T
|
|
|
NM_005957.5(MTHFR):c.781-16C>G
|
|
|
NM_005957.5(MTHFR):c.781-5G>A
|
rs2100532176
|
|
NM_005957.5(MTHFR):c.786C>T (p.Tyr262=)
|
rs1644229819
|
|
NM_005957.5(MTHFR):c.78C>T (p.Ser26=)
|
|
|
NM_005957.5(MTHFR):c.804T>C (p.Leu268=)
|
|
|
NM_005957.5(MTHFR):c.810G>A (p.Lys270=)
|
rs755932312
|
|
NM_005957.5(MTHFR):c.828G>A (p.Val276=)
|
rs2100531623
|
|
NM_005957.5(MTHFR):c.831A>G (p.Pro277=)
|
|
|
NM_005957.5(MTHFR):c.840C>T (p.Ile280=)
|
|
|
NM_005957.5(MTHFR):c.843G>A (p.Lys281=)
|
rs2100531529
|
|
NM_005957.5(MTHFR):c.849G>A (p.Val283=)
|
|
|
NM_005957.5(MTHFR):c.84T>C (p.Asp28=)
|
|
|
NM_005957.5(MTHFR):c.87T>C (p.Ser29=)
|
rs2100578276
|
|
NM_005957.5(MTHFR):c.891T>C (p.Tyr297=)
|
rs367992906
|
|
NM_005957.5(MTHFR):c.897C>T (p.Ile299=)
|
|
|
NM_005957.5(MTHFR):c.906C>T (p.Ala302=)
|
rs13306555
|
|
NM_005957.5(MTHFR):c.909G>A (p.Val303=)
|
rs1570475497
|
|
NM_005957.5(MTHFR):c.913C>T (p.Leu305=)
|
rs2100530817
|
|
NM_005957.5(MTHFR):c.915G>C (p.Leu305=)
|
rs1308637124
|
|
NM_005957.5(MTHFR):c.915G>T (p.Leu305=)
|
|
|
NM_005957.5(MTHFR):c.927T>C (p.Leu309=)
|
|
|
NM_005957.5(MTHFR):c.945G>A (p.Val315=)
|
|
|
NM_005957.5(MTHFR):c.954C>T (p.Leu318=)
|
rs1335006530
|
|
NM_005957.5(MTHFR):c.969C>G (p.Leu323=)
|
|
|
NM_005957.5(MTHFR):c.972C>T (p.Asn324=)
|
|
|
NM_005957.5(MTHFR):c.975C>T (p.Arg325=)
|
|
|
NM_006623.4(PHGDH):c.1003C>T (p.Leu335=)
|
rs2101216283
|
|
NM_006623.4(PHGDH):c.102G>A (p.Gln34=)
|
|
|
NM_006623.4(PHGDH):c.1035C>A (p.Ala345=)
|
rs1477345994
|
|
NM_006623.4(PHGDH):c.1035C>T (p.Ala345=)
|
rs1477345994
|
|
NM_006623.4(PHGDH):c.1047C>G (p.Ser349=)
|
|
|
NM_006623.4(PHGDH):c.1047C>T (p.Ser349=)
|
|
|
NM_006623.4(PHGDH):c.105C>T (p.Asn35=)
|
|
|
NM_006623.4(PHGDH):c.1078+10G>A
|
|
|
NM_006623.4(PHGDH):c.1078+10G>T
|
rs374994783
|
|
NM_006623.4(PHGDH):c.1078+11G>T
|
|
|
NM_006623.4(PHGDH):c.1078+18C>T
|
|
|
NM_006623.4(PHGDH):c.1078+7T>C
|
rs2101216709
|
|
NM_006623.4(PHGDH):c.1079-14C>T
|
rs755593718
|
|
NM_006623.4(PHGDH):c.1079-17C>G
|
|
|
NM_006623.4(PHGDH):c.1079-51_1079-19del
|
rs1652215363
|
|
NM_006623.4(PHGDH):c.1079-6C>T
|
|
|
NM_006623.4(PHGDH):c.1079-9T>C
|
rs2101220637
|
|
NM_006623.4(PHGDH):c.1086C>T (p.Ser362=)
|
|
|
NM_006623.4(PHGDH):c.1089G>C (p.Leu363=)
|
|
|
NM_006623.4(PHGDH):c.1108C>T (p.Leu370=)
|
|
|
NM_006623.4(PHGDH):c.1110A>G (p.Leu370=)
|
|
|
NM_006623.4(PHGDH):c.1113C>T (p.Ser371=)
|
|
|
NM_006623.4(PHGDH):c.1122C>A (p.Val374=)
|
rs2101220979
|
|
NM_006623.4(PHGDH):c.1128C>G (p.Val376=)
|
|
|
NM_006623.4(PHGDH):c.1131C>G (p.Gly377=)
|
|
|
NM_006623.4(PHGDH):c.1137G>C (p.Leu379=)
|
rs144019971
|
|
NM_006623.4(PHGDH):c.1140A>G (p.Lys380=)
|
|
|
NM_006623.4(PHGDH):c.1146T>C (p.Ala382=)
|
rs2101221161
|
|
NM_006623.4(PHGDH):c.1158G>A (p.Ala386=)
|
rs144484007
|
|
NM_006623.4(PHGDH):c.1185G>C (p.Leu395=)
|
rs1652224641
|
|
NM_006623.4(PHGDH):c.1185G>T (p.Leu395=)
|
|
|
NM_006623.4(PHGDH):c.1197G>A (p.Glu399=)
|
rs758882501
|
|
NM_006623.4(PHGDH):c.1206C>T (p.Leu402=)
|
|
|
NM_006623.4(PHGDH):c.1209+14C>T
|
|
|
NM_006623.4(PHGDH):c.1209+16C>T
|
|
|
NM_006623.4(PHGDH):c.1209+17C>A
|
rs587674701
|
|
NM_006623.4(PHGDH):c.1209+17C>G
|
rs587674701
|
|
NM_006623.4(PHGDH):c.1209+19C>G
|
|
|
NM_006623.4(PHGDH):c.1209+20G>A
|
|
|
NM_006623.4(PHGDH):c.1209+7C>T
|
|
|
NM_006623.4(PHGDH):c.1209+9C>A
|
|
|
NM_006623.4(PHGDH):c.1209+9C>T
|
rs745641174
|
|
NM_006623.4(PHGDH):c.1209+9del
|
rs776173839
|
|
NM_006623.4(PHGDH):c.1210-13C>T
|
|
|
NM_006623.4(PHGDH):c.1210-14C>A
|
|
|
NM_006623.4(PHGDH):c.1210-19C>T
|
|
|
NM_006623.4(PHGDH):c.1210-20A>G
|
|
|
NM_006623.4(PHGDH):c.1210-20A>T
|
|
|
NM_006623.4(PHGDH):c.1210-4A>G
|
rs2101224413
|
|
NM_006623.4(PHGDH):c.1210-5C>T
|
|
|
NM_006623.4(PHGDH):c.1210-8C>A
|
|
|
NM_006623.4(PHGDH):c.1210-8C>T
|
rs2101224399
|
|
NM_006623.4(PHGDH):c.1210-9T>A
|
|
|
NM_006623.4(PHGDH):c.1233T>C (p.Ala411=)
|
rs2101224620
|
|
NM_006623.4(PHGDH):c.1236A>C (p.Ala412=)
|
rs2101224630
|
|
NM_006623.4(PHGDH):c.1242G>A (p.Gly414=)
|
rs2101224665
|
|
NM_006623.4(PHGDH):c.1266C>T (p.Leu422=)
|
|
|
NM_006623.4(PHGDH):c.1278C>T (p.Ala426=)
|
rs2101224812
|
|
NM_006623.4(PHGDH):c.1281G>A (p.Leu427=)
|
|
|
NM_006623.4(PHGDH):c.1284A>G (p.Ala428=)
|
rs1244466093
|
|
NM_006623.4(PHGDH):c.1299G>A (p.Gln433=)
|
rs900277109
|
|
NM_006623.4(PHGDH):c.12A>T (p.Ala4=)
|
|
|
NM_006623.4(PHGDH):c.1308C>T (p.Gly436=)
|
rs2101224967
|
|
NM_006623.4(PHGDH):c.1314C>T (p.Val438=)
|
|
|
NM_006623.4(PHGDH):c.1323T>C (p.Thr441=)
|
|
|
NM_006623.4(PHGDH):c.1326G>T (p.Thr442=)
|
rs543703
|
|
NM_006623.4(PHGDH):c.1329T>G (p.Pro443=)
|
|
|
NM_006623.4(PHGDH):c.1332A>C (p.Val444=)
|
|
|
NM_006623.4(PHGDH):c.1333C>T (p.Leu445=)
|
rs2101225117
|
|
NM_006623.4(PHGDH):c.1341G>T (p.Gly447=)
|
|
|
NM_006623.4(PHGDH):c.1344C>A (p.Leu448=)
|
rs1390869782
|
|
NM_006623.4(PHGDH):c.1362G>A (p.Arg454=)
|
|
|
NM_006623.4(PHGDH):c.138+12G>A
|
|
|
NM_006623.4(PHGDH):c.138+19A>T
|
|
|
NM_006623.4(PHGDH):c.138+9A>C
|
|
|
NM_006623.4(PHGDH):c.1381A>C (p.Arg461=)
|
|
|
NM_006623.4(PHGDH):c.1383G>A (p.Arg461=)
|
rs2101225455
|
|
NM_006623.4(PHGDH):c.1389G>A (p.Leu463=)
|
|
|
NM_006623.4(PHGDH):c.139-11T>C
|
|
|
NM_006623.4(PHGDH):c.139-15T>C
|
|
|
NM_006623.4(PHGDH):c.139-16G>T
|
|
|
NM_006623.4(PHGDH):c.139-18A>T
|
|
|
NM_006623.4(PHGDH):c.139-5T>C
|
|
|
NM_006623.4(PHGDH):c.139-6C>T
|
|
|
NM_006623.4(PHGDH):c.139-7G>A
|
|
|
NM_006623.4(PHGDH):c.139-7G>T
|
rs1460987400
|
|
NM_006623.4(PHGDH):c.1393C>T (p.Leu465=)
|
|
|
NM_006623.4(PHGDH):c.1399C>T (p.Leu467=)
|
|
|
NM_006623.4(PHGDH):c.1401A>C (p.Leu467=)
|
rs768039058
|
|
NM_006623.4(PHGDH):c.1401A>T (p.Leu467=)
|
rs768039058
|
|
NM_006623.4(PHGDH):c.1413G>A (p.Gln471=)
|
|
|
NM_006623.4(PHGDH):c.1416C>A (p.Thr472=)
|
|
|
NM_006623.4(PHGDH):c.1416C>T (p.Thr472=)
|
|
|
NM_006623.4(PHGDH):c.1422C>T (p.Asp474=)
|
rs2101225739
|
|
NM_006623.4(PHGDH):c.1428A>G (p.Ala476=)
|
rs2101225800
|
|
NM_006623.4(PHGDH):c.1440C>G (p.Thr480=)
|
|
|
NM_006623.4(PHGDH):c.1447+10G>A
|
rs1259366206
|
|
NM_006623.4(PHGDH):c.1447+18G>A
|
rs1652288973
|
|
NM_006623.4(PHGDH):c.1447+9G>T
|
rs200578872
|
|
NM_006623.4(PHGDH):c.1448-16T>C
|
rs2101228802
|
|
NM_006623.4(PHGDH):c.1448-18A>G
|
|
|
NM_006623.4(PHGDH):c.1448-8A>G
|
rs1652325929
|
|
NM_006623.4(PHGDH):c.1448-9T>C
|
|
|
NM_006623.4(PHGDH):c.1449C>A (p.Gly483=)
|
rs1652326306
|
|
NM_006623.4(PHGDH):c.1458A>G (p.Ala486=)
|
|
|
NM_006623.4(PHGDH):c.1467C>A (p.Gly489=)
|
|
|
NM_006623.4(PHGDH):c.1467C>G (p.Gly489=)
|
|
|
NM_006623.4(PHGDH):c.1473G>T (p.Arg491=)
|
|
|
NM_006623.4(PHGDH):c.1491T>A (p.Thr497=)
|
rs1557983680
|
|
NM_006623.4(PHGDH):c.1494A>C (p.Ser498=)
|
|
|
NM_006623.4(PHGDH):c.1497G>A (p.Leu499=)
|
|
|
NM_006623.4(PHGDH):c.1497G>T (p.Leu499=)
|
|
|
NM_006623.4(PHGDH):c.1545G>T (p.Leu515=)
|
rs1265382006
|
|
NM_006623.4(PHGDH):c.1548C>T (p.Pro516=)
|
rs2101229419
|
|
NM_006623.4(PHGDH):c.1554G>A (p.Leu518=)
|
|
|
NM_006623.4(PHGDH):c.1560G>T (p.Ala520=)
|
|
|
NM_006623.4(PHGDH):c.1572T>C (p.His524=)
|
|
|
NM_006623.4(PHGDH):c.1583C>T (p.Ala528Val)
|
rs141408688
|
|
NM_006623.4(PHGDH):c.1587C>T (p.Phe529=)
|
|
|
NM_006623.4(PHGDH):c.1593C>T (p.Phe531=)
|
|
|
NM_006623.4(PHGDH):c.1599C>T (p.Phe533=)
|
rs778576636
|
|
NM_006623.4(PHGDH):c.162C>G (p.Arg54=)
|
|
|
NM_006623.4(PHGDH):c.16C>T (p.Leu6=)
|
rs1557961852
|
|
NM_006623.4(PHGDH):c.201T>C (p.Ala67=)
|
rs1167677460
|
|
NM_006623.4(PHGDH):c.216G>A (p.Val72=)
|
|
|
NM_006623.4(PHGDH):c.216G>C (p.Val72=)
|
rs1651146348
|
|
NM_006623.4(PHGDH):c.223A>C (p.Arg75=)
|
rs1177622207
|
|
NM_006623.4(PHGDH):c.234A>C (p.Thr78=)
|
|
|
NM_006623.4(PHGDH):c.240G>T (p.Val80=)
|
rs1232918316
|
|
NM_006623.4(PHGDH):c.243C>T (p.Asp81=)
|
|
|
NM_006623.4(PHGDH):c.246T>C (p.Asn82=)
|
rs1651149194
|
|
NM_006623.4(PHGDH):c.249G>T (p.Val83=)
|
|
|
NM_006623.4(PHGDH):c.264A>G (p.Ala88=)
|
|
|
NM_006623.4(PHGDH):c.267A>C (p.Thr89=)
|
rs767488641
|
|
NM_006623.4(PHGDH):c.270G>A (p.Arg90=)
|
rs2101155256
|
|
NM_006623.4(PHGDH):c.279C>A (p.Ile93=)
|
|
|
NM_006623.4(PHGDH):c.280T>C (p.Leu94=)
|
|
|
NM_006623.4(PHGDH):c.282G>A (p.Leu94=)
|
rs1477824093
|
|
NM_006623.4(PHGDH):c.285T>C (p.Val95=)
|
|
|
NM_006623.4(PHGDH):c.290+14G>C
|
|
|
NM_006623.4(PHGDH):c.290+16T>A
|
|
|
NM_006623.4(PHGDH):c.290+18C>A
|
rs779206688
|
|
NM_006623.4(PHGDH):c.290+18_290+25del
|
|
|
NM_006623.4(PHGDH):c.290+19G>A
|
rs746145056
|
|
NM_006623.4(PHGDH):c.290+19G>T
|
rs746145056
|
|
NM_006623.4(PHGDH):c.290+8A>G
|
|
|
NM_006623.4(PHGDH):c.290+9T>A
|
rs1651152863
|
|
NM_006623.4(PHGDH):c.291-13C>G
|
|
|
NM_006623.4(PHGDH):c.291-14T>C
|
rs1651260693
|
|
NM_006623.4(PHGDH):c.291-3del
|
rs2101160136
|
|
NM_006623.4(PHGDH):c.291-6C>T
|
|
|
NM_006623.4(PHGDH):c.291-7T>A
|
|
|
NM_006623.4(PHGDH):c.294C>T (p.Thr98=)
|
|
|
NM_006623.4(PHGDH):c.300T>C (p.Asn100=)
|
|
|
NM_006623.4(PHGDH):c.303G>C (p.Gly101=)
|
|
|
NM_006623.4(PHGDH):c.30C>T (p.Leu10=)
|
rs2101136394
|
|
NM_006623.4(PHGDH):c.327C>T (p.Leu109=)
|
rs1352957356
|
|
NM_006623.4(PHGDH):c.336A>C (p.Gly112=)
|
|
|
NM_006623.4(PHGDH):c.336A>G (p.Gly112=)
|
rs1174976585
|
|
NM_006623.4(PHGDH):c.349C>T (p.Leu117=)
|
rs2101160489
|
|
NM_006623.4(PHGDH):c.356+11G>C
|
|
|
NM_006623.4(PHGDH):c.356+13_356+14del
|
|
|
NM_006623.4(PHGDH):c.356+7C>A
|
rs1570993643
|
|
NM_006623.4(PHGDH):c.357-15T>G
|
rs2101171045
|
|
NM_006623.4(PHGDH):c.357-16G>C
|
|
|
NM_006623.4(PHGDH):c.357-18C>T
|
|
|
NM_006623.4(PHGDH):c.357-19C>A
|
|
|
NM_006623.4(PHGDH):c.357-4G>A
|
rs2101171094
|
|
NM_006623.4(PHGDH):c.357-4G>T
|
|
|
NM_006623.4(PHGDH):c.357-6T>C
|
rs2101171082
|
|
NM_006623.4(PHGDH):c.357-9T>C
|
rs1173989487
|
|
NM_006623.4(PHGDH):c.366C>T (p.Pro122=)
|
|
|
NM_006623.4(PHGDH):c.372G>T (p.Ala124=)
|
rs146740411
|
|
NM_006623.4(PHGDH):c.381G>A (p.Ser127=)
|
rs886045205
|
|
NM_006623.4(PHGDH):c.381G>C (p.Ser127=)
|
rs886045205
|
|
NM_006623.4(PHGDH):c.381G>T (p.Ser127=)
|
|
|
NM_006623.4(PHGDH):c.396A>G (p.Lys132=)
|
|
|
NM_006623.4(PHGDH):c.403C>A (p.Arg135=)
|
|
|
NM_006623.4(PHGDH):c.408G>A (p.Lys136=)
|
|
|
NM_006623.4(PHGDH):c.411+11G>A
|
|
|
NM_006623.4(PHGDH):c.411+16G>T
|
|
|
NM_006623.4(PHGDH):c.411+18C>T
|
rs1388415964
|
|
NM_006623.4(PHGDH):c.411+20C>T
|
|
|
NM_006623.4(PHGDH):c.411+9C>A
|
rs187075075
|
|
NM_006623.4(PHGDH):c.412-16G>C
|
|
|
NM_006623.4(PHGDH):c.412-4G>A
|
|
|
NM_006623.4(PHGDH):c.412-8G>C
|
|
|
NM_006623.4(PHGDH):c.412-8G>T
|
|
|
NM_006623.4(PHGDH):c.423A>G (p.Thr141=)
|
|
|
NM_006623.4(PHGDH):c.426G>A (p.Glu142=)
|
|
|
NM_006623.4(PHGDH):c.427C>T (p.Leu143=)
|
rs143155925
|
|
NM_006623.4(PHGDH):c.42C>T (p.Ser14=)
|
|
|
NM_006623.4(PHGDH):c.438G>A (p.Lys146=)
|
|
|
NM_006623.4(PHGDH):c.447A>T (p.Gly149=)
|
|
|
NM_006623.4(PHGDH):c.457C>T (p.Leu153=)
|
|
|
NM_006623.4(PHGDH):c.462C>A (p.Gly154=)
|
rs752236796
|
|
NM_006623.4(PHGDH):c.462C>G (p.Gly154=)
|
rs752236796
|
|
NM_006623.4(PHGDH):c.474A>G (p.Arg158=)
|
|
|
NM_006623.4(PHGDH):c.486C>G (p.Thr162=)
|
rs1054405028
|
|
NM_006623.4(PHGDH):c.486C>T (p.Thr162=)
|
rs1054405028
|
|
NM_006623.4(PHGDH):c.498C>A (p.Ser166=)
|
|
|
NM_006623.4(PHGDH):c.498C>T (p.Ser166=)
|
|
|
NM_006623.4(PHGDH):c.504G>A (p.Gly168=)
|
rs2101172535
|
|
NM_006623.4(PHGDH):c.510+10T>C
|
|
|
NM_006623.4(PHGDH):c.510+12C>T
|
rs932348459
|
|
NM_006623.4(PHGDH):c.510+15G>T
|
|
|
NM_006623.4(PHGDH):c.510+18C>T
|
|
|
NM_006623.4(PHGDH):c.510+8G>A
|
|
|
NM_006623.4(PHGDH):c.511-10T>G
|
|
|
NM_006623.4(PHGDH):c.511-14T>C
|
|
|
NM_006623.4(PHGDH):c.511-15C>T
|
|
|
NM_006623.4(PHGDH):c.511-16T>C
|
|
|
NM_006623.4(PHGDH):c.511-17C>A
|
|
|
NM_006623.4(PHGDH):c.511-17C>G
|
|
|
NM_006623.4(PHGDH):c.511-17C>T
|
|
|
NM_006623.4(PHGDH):c.511-19C>G
|
|
|
NM_006623.4(PHGDH):c.511-20T>C
|
|
|
NM_006623.4(PHGDH):c.511-5A>T
|
|
|
NM_006623.4(PHGDH):c.511-5del
|
rs2101195325
|
|
NM_006623.4(PHGDH):c.511-9T>G
|
|
|
NM_006623.4(PHGDH):c.528C>T (p.Pro176=)
|
rs2101195431
|
|
NM_006623.4(PHGDH):c.537C>A (p.Ser179=)
|
|
|
NM_006623.4(PHGDH):c.543G>A (p.Glu181=)
|
rs886045206
|
|
NM_006623.4(PHGDH):c.546C>T (p.Val182=)
|
|
|
NM_006623.4(PHGDH):c.552C>T (p.Ala184=)
|
rs761331510
|
|
NM_006623.4(PHGDH):c.555C>A (p.Ser185=)
|
rs1484089549
|
|
NM_006623.4(PHGDH):c.570G>A (p.Gln190=)
|
|
|
NM_006623.4(PHGDH):c.579G>A (p.Leu193=)
|
rs1651854823
|
|
NM_006623.4(PHGDH):c.588C>A (p.Ile196=)
|
|
|
NM_006623.4(PHGDH):c.606C>T (p.Phe202=)
|
|
|
NM_006623.4(PHGDH):c.612T>C (p.Thr204=)
|
rs2101195879
|
|
NM_006623.4(PHGDH):c.627C>A (p.Leu209=)
|
rs2101195942
|
|
NM_006623.4(PHGDH):c.627C>G (p.Leu209=)
|
rs2101195942
|
|
NM_006623.4(PHGDH):c.627C>T (p.Leu209=)
|
rs2101195942
|
|
NM_006623.4(PHGDH):c.628C>T (p.Leu210=)
|
|
|
NM_006623.4(PHGDH):c.643+13T>A
|
|
|
NM_006623.4(PHGDH):c.643+20G>A
|
|
|
NM_006623.4(PHGDH):c.643+7G>T
|
rs943894952
|
|
NM_006623.4(PHGDH):c.644-16C>T
|
|
|
NM_006623.4(PHGDH):c.644-17G>A
|
|
|
NM_006623.4(PHGDH):c.644-17G>C
|
|
|
NM_006623.4(PHGDH):c.644-18T>C
|
|
|
NM_006623.4(PHGDH):c.644-20G>A
|
|
|
NM_006623.4(PHGDH):c.644-6T>C
|
|
|
NM_006623.4(PHGDH):c.644-7C>A
|
|
|
NM_006623.4(PHGDH):c.644-9T>A
|
|
|
NM_006623.4(PHGDH):c.644-9T>G
|
rs1388567211
|
|
NM_006623.4(PHGDH):c.675C>T (p.Cys225=)
|
|
|
NM_006623.4(PHGDH):c.678G>A (p.Lys226=)
|
rs2101198131
|
|
NM_006623.4(PHGDH):c.699C>T (p.Asn233=)
|
rs2101198306
|
|
NM_006623.4(PHGDH):c.717C>T (p.Ile239=)
|
rs1324025863
|
|
NM_006623.4(PHGDH):c.720G>T (p.Val240=)
|
rs773300796
|
|
NM_006623.4(PHGDH):c.729C>T (p.Gly243=)
|
|
|
NM_006623.4(PHGDH):c.72A>G (p.Gln24=)
|
|
|
NM_006623.4(PHGDH):c.735G>C (p.Leu245=)
|
|
|
NM_006623.4(PHGDH):c.738C>G (p.Leu246=)
|
rs753236992
|
|
NM_006623.4(PHGDH):c.747G>A (p.Leu249=)
|
|
|
NM_006623.4(PHGDH):c.753T>A (p.Ser251=)
|
|
|
NM_006623.4(PHGDH):c.753T>C (p.Ser251=)
|
rs2101198705
|
|
NM_006623.4(PHGDH):c.771T>C (p.Ala257=)
|
|
|
NM_006623.4(PHGDH):c.775C>T (p.Leu259=)
|
rs139830902
|
|
NM_006623.4(PHGDH):c.789G>A (p.Thr263=)
|
|
|
NM_006623.4(PHGDH):c.789G>C (p.Thr263=)
|
rs368452731
|
|
NM_006623.4(PHGDH):c.792+17C>T
|
|
|
NM_006623.4(PHGDH):c.792+20A>G
|
rs1651889944
|
|
NM_006623.4(PHGDH):c.792+7G>A
|
rs774410126
|
|
NM_006623.4(PHGDH):c.793-11T>G
|
rs770897520
|
|
NM_006623.4(PHGDH):c.793-12C>G
|
|
|
NM_006623.4(PHGDH):c.793-14C>T
|
|
|
NM_006623.4(PHGDH):c.793-15T>C
|
|
|
NM_006623.4(PHGDH):c.793-18G>C
|
|
|
NM_006623.4(PHGDH):c.793-20A>C
|
|
|
NM_006623.4(PHGDH):c.793-5G>T
|
|
|
NM_006623.4(PHGDH):c.793-7T>C
|
rs2101204358
|
|
NM_006623.4(PHGDH):c.795G>A (p.Glu265=)
|
|
|
NM_006623.4(PHGDH):c.819G>A (p.Val273=)
|
|
|
NM_006623.4(PHGDH):c.828G>A (p.Glu276=)
|
rs1478978406
|
|
NM_006623.4(PHGDH):c.834C>T (p.Val278=)
|
|
|
NM_006623.4(PHGDH):c.846C>T (p.Pro282=)
|
|
|
NM_006623.4(PHGDH):c.84G>A (p.Leu28=)
|
|
|
NM_006623.4(PHGDH):c.852G>C (p.Leu284=)
|
rs1297161098
|
|
NM_006623.4(PHGDH):c.852G>T (p.Leu284=)
|
rs1297161098
|
|
NM_006623.4(PHGDH):c.870G>A (p.Glu290=)
|
rs1355536303
|
|
NM_006623.4(PHGDH):c.891G>A (p.Glu297=)
|
|
|
NM_006623.4(PHGDH):c.900T>C (p.Ala300=)
|
|
|
NM_006623.4(PHGDH):c.930A>G (p.Lys310=)
|
rs1651981974
|
|
NM_006623.4(PHGDH):c.939G>A (p.Thr313=)
|
|
|
NM_006623.4(PHGDH):c.939G>C (p.Thr313=)
|
|
|
NM_006623.4(PHGDH):c.93G>A (p.Val31=)
|
|
|
NM_006623.4(PHGDH):c.945+14C>T
|
|
|
NM_006623.4(PHGDH):c.945+15C>G
|
|
|
NM_006623.4(PHGDH):c.945+17G>A
|
|
|
NM_006623.4(PHGDH):c.945+20G>A
|
rs374620703
|
|
NM_006623.4(PHGDH):c.945+9_945+10insCTGGC
|
rs777871013
|
|
NM_006623.4(PHGDH):c.946-11A>T
|
|
|
NM_006623.4(PHGDH):c.946-16C>G
|
|
|
NM_006623.4(PHGDH):c.946-19G>A
|
rs745359903
|
|
NM_006623.4(PHGDH):c.946-7T>C
|
|
|
NM_006623.4(PHGDH):c.960C>G (p.Ala320=)
|
rs2101215979
|
|
NM_006623.4(PHGDH):c.960C>T (p.Ala320=)
|
rs2101215979
|
|
NM_006623.4(PHGDH):c.972C>G (p.Ala324=)
|
|
|
NM_006623.4(PHGDH):c.972C>T (p.Ala324=)
|
rs2101216070
|
|
NM_006623.4(PHGDH):c.975C>T (p.Phe325=)
|
|
|
NM_006623.4(PHGDH):c.981A>T (p.Pro327=)
|
|
|
NM_006623.4(PHGDH):c.984C>T (p.His328=)
|
|
|
NM_006623.4(PHGDH):c.990G>A (p.Lys330=)
|
rs2101216214
|
|
NM_006623.4(PHGDH):c.99G>A (p.Lys33=)
|
rs2101136591
|
|
NM_006859.4(LIAS):c.1023T>C (p.His341=)
|
|
|
NM_006859.4(LIAS):c.1041T>C (p.Pro347=)
|
|
|
NM_006859.4(LIAS):c.105A>G (p.Lys35=)
|
rs2109867811
|
|
NM_006859.4(LIAS):c.1065A>T (p.Ala355=)
|
rs765479168
|
|
NM_006859.4(LIAS):c.1066+12T>C
|
|
|
NM_006859.4(LIAS):c.1066+16G>A
|
|
|
NM_006859.4(LIAS):c.1066+18G>T
|
|
|
NM_006859.4(LIAS):c.1066+19C>T
|
|
|
NM_006859.4(LIAS):c.1067-11T>C
|
rs1315541765
|
|
NM_006859.4(LIAS):c.1067-15C>G
|
|
|
NM_006859.4(LIAS):c.1068T>G (p.Gly356=)
|
|
|
NM_006859.4(LIAS):c.1098A>G (p.Lys366=)
|
|
|
NM_006859.4(LIAS):c.1113C>T (p.Asp371=)
|
|
|
NM_006859.4(LIAS):c.1118A>G (p.Ter373=)
|
|
|
NM_006859.4(LIAS):c.114C>A (p.Leu38=)
|
rs750439302
|
|
NM_006859.4(LIAS):c.120G>A (p.Gln40=)
|
|
|
NM_006859.4(LIAS):c.144T>C (p.Phe48=)
|
rs745864982
|
|
NM_006859.4(LIAS):c.166A>C (p.Arg56=)
|
|
|
NM_006859.4(LIAS):c.218+14T>A
|
|
|
NM_006859.4(LIAS):c.218+15G>A
|
|
|
NM_006859.4(LIAS):c.218+19T>C
|
|
|
NM_006859.4(LIAS):c.218+7_218+13dup
|
|
|
NM_006859.4(LIAS):c.219-6C>T
|
|
|
NM_006859.4(LIAS):c.231T>C (p.Pro77=)
|
|
|
NM_006859.4(LIAS):c.291G>A (p.Leu97=)
|
|
|
NM_006859.4(LIAS):c.292C>A (p.Arg98=)
|
|
|
NM_006859.4(LIAS):c.312+17T>G
|
rs1744546093
|
|
NM_006859.4(LIAS):c.312+8G>T
|
|
|
NM_006859.4(LIAS):c.313-12T>G
|
rs2109872778
|
|
NM_006859.4(LIAS):c.313-14C>T
|
|
|
NM_006859.4(LIAS):c.313-19C>T
|
|
|
NM_006859.4(LIAS):c.313-6A>G
|
|
|
NM_006859.4(LIAS):c.313-7C>T
|
|
|
NM_006859.4(LIAS):c.315A>G (p.Val105=)
|
|
|
NM_006859.4(LIAS):c.342T>C (p.Ile114=)
|
|
|
NM_006859.4(LIAS):c.393+17C>T
|
|
|
NM_006859.4(LIAS):c.393+7C>A
|
rs372423537
|
|
NM_006859.4(LIAS):c.45+10G>A
|
|
|
NM_006859.4(LIAS):c.45+12G>A
|
|
|
NM_006859.4(LIAS):c.45+18C>T
|
|
|
NM_006859.4(LIAS):c.45+19G>T
|
|
|
NM_006859.4(LIAS):c.45+20G>T
|
rs1424759183
|
|
NM_006859.4(LIAS):c.45+7G>A
|
rs1263617011
|
|
NM_006859.4(LIAS):c.46-13A>T
|
|
|
NM_006859.4(LIAS):c.46-17A>G
|
rs2109867537
|
|
NM_006859.4(LIAS):c.46-5T>C
|
rs764526355
|
|
NM_006859.4(LIAS):c.462A>C (p.Pro154=)
|
rs924459280
|
|
NM_006859.4(LIAS):c.550+11C>T
|
|
|
NM_006859.4(LIAS):c.550+12A>G
|
|
|
NM_006859.4(LIAS):c.550+16T>C
|
|
|
NM_006859.4(LIAS):c.550+9G>A
|
rs1744712599
|
|
NM_006859.4(LIAS):c.551-16A>T
|
|
|
NM_006859.4(LIAS):c.551-19T>C
|
rs2109875645
|
|
NM_006859.4(LIAS):c.588C>T (p.Thr196=)
|
|
|
NM_006859.4(LIAS):c.597T>C (p.Tyr199=)
|
rs2109875753
|
|
NM_006859.4(LIAS):c.600A>G (p.Leu200=)
|
|
|
NM_006859.4(LIAS):c.608+7A>C
|
|
|
NM_006859.4(LIAS):c.609-13C>T
|
|
|
NM_006859.4(LIAS):c.609-6C>T
|
rs1744804569
|
|
NM_006859.4(LIAS):c.705A>C (p.Ala235=)
|
rs111583368
|
|
NM_006859.4(LIAS):c.714A>G (p.Val238=)
|
|
|
NM_006859.4(LIAS):c.723C>A (p.Val241=)
|
rs1029290249
|
|
NM_006859.4(LIAS):c.737+20A>T
|
|
|
NM_006859.4(LIAS):c.737+6dup
|
|
|
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)
|
rs773069554
|
|
NM_006859.4(LIAS):c.7C>T (p.Leu3=)
|
rs1553933562
|
|
NM_006859.4(LIAS):c.801G>A (p.Lys267=)
|
|
|
NM_006859.4(LIAS):c.834A>C (p.Ile278=)
|
|
|
NM_006859.4(LIAS):c.838T>C (p.Leu280=)
|
|
|
NM_006859.4(LIAS):c.849C>A (p.Gly283=)
|
rs146030265
|
|
NM_006859.4(LIAS):c.883+10T>C
|
|
|
NM_006859.4(LIAS):c.883+15_883+56del
|
rs1368518925
|
|
NM_006859.4(LIAS):c.900T>C (p.Asp300=)
|
rs958145023
|
|
NM_006859.4(LIAS):c.924A>G (p.Gln308=)
|
|
|
NM_006859.4(LIAS):c.93G>A (p.Leu31=)
|
|
|
NM_006859.4(LIAS):c.954+11C>A
|
|
|
NM_006859.4(LIAS):c.954+18dup
|
|
|
NM_006859.4(LIAS):c.954+20C>G
|
|
|
NM_006859.4(LIAS):c.954+20C>T
|
rs918706580
|
|
NM_006859.4(LIAS):c.954+9A>G
|
|
|
NM_006859.4(LIAS):c.955-11T>C
|
|
|
NM_006859.4(LIAS):c.955-13T>G
|
rs755822707
|
|
NM_006859.4(LIAS):c.955-4C>G
|
rs2109887808
|
|
NM_006859.4(LIAS):c.955-7A>T
|
|
|
NM_006859.4(LIAS):c.963A>G (p.Glu321=)
|
|
|
NM_006859.4(LIAS):c.975T>C (p.Pro325=)
|
|
|
NM_012213.3(MLYCD):c.1005C>A (p.Thr335=)
|
rs752690201
|
|
NM_012213.3(MLYCD):c.1005C>G (p.Thr335=)
|
|
|
NM_012213.3(MLYCD):c.1024C>T (p.Leu342=)
|
|
|
NM_012213.3(MLYCD):c.102C>A (p.Gly34=)
|
|
|
NM_012213.3(MLYCD):c.1032G>A (p.Ser344=)
|
|
|
NM_012213.3(MLYCD):c.1032G>T (p.Ser344=)
|
|
|
NM_012213.3(MLYCD):c.1038G>A (p.Thr346=)
|
|
|
NM_012213.3(MLYCD):c.1062C>G (p.Leu354=)
|
|
|
NM_012213.3(MLYCD):c.1062C>T (p.Leu354=)
|
|
|
NM_012213.3(MLYCD):c.1065T>C (p.Phe355=)
|
|
|
NM_012213.3(MLYCD):c.1074G>T (p.Ser358=)
|
|
|
NM_012213.3(MLYCD):c.1083G>A (p.Lys361=)
|
|
|
NM_012213.3(MLYCD):c.1089C>A (p.Ile363=)
|
rs372909321
|
|
NM_012213.3(MLYCD):c.108G>A (p.Leu36=)
|
|
|
NM_012213.3(MLYCD):c.1092G>A (p.Ser364=)
|
|
|
NM_012213.3(MLYCD):c.1098C>A (p.Ile366=)
|
|
|
NM_012213.3(MLYCD):c.1104T>G (p.Gly368=)
|
|
|
NM_012213.3(MLYCD):c.1107C>T (p.Gly369=)
|
|
|
NM_012213.3(MLYCD):c.1116C>T (p.Asn372=)
|
|
|
NM_012213.3(MLYCD):c.1122C>T (p.Thr374=)
|
|
|
NM_012213.3(MLYCD):c.1125C>G (p.Leu375=)
|
|
|
NM_012213.3(MLYCD):c.1131C>G (p.Leu377=)
|
|
|
NM_012213.3(MLYCD):c.1137C>G (p.Leu379=)
|
rs2151060040
|
|
NM_012213.3(MLYCD):c.1137C>T (p.Leu379=)
|
|
|
NM_012213.3(MLYCD):c.1143C>T (p.Ser381=)
|
|
|
NM_012213.3(MLYCD):c.1161G>A (p.Ser387=)
|
|
|
NM_012213.3(MLYCD):c.1170G>A (p.Leu390=)
|
rs2151060055
|
|
NM_012213.3(MLYCD):c.1185G>A (p.Gln395=)
|
|
|
NM_012213.3(MLYCD):c.1191G>C (p.Pro397=)
|
|
|
NM_012213.3(MLYCD):c.1194G>T (p.Leu398=)
|
|
|
NM_012213.3(MLYCD):c.1209C>G (p.Ala403=)
|
|
|
NM_012213.3(MLYCD):c.1209C>T (p.Ala403=)
|
|
|
NM_012213.3(MLYCD):c.1215C>T (p.Tyr405=)
|
|
|
NM_012213.3(MLYCD):c.1216C>T (p.Leu406=)
|
|
|
NM_012213.3(MLYCD):c.1221T>C (p.Tyr407=)
|
|
|
NM_012213.3(MLYCD):c.1233C>T (p.His411=)
|
|
|
NM_012213.3(MLYCD):c.1236C>A (p.Arg412=)
|
rs370278897
|
|
NM_012213.3(MLYCD):c.1239C>A (p.Gly413=)
|
|
|
NM_012213.3(MLYCD):c.1239C>T (p.Gly413=)
|
|
|
NM_012213.3(MLYCD):c.1242C>T (p.Tyr414=)
|
|
|
NM_012213.3(MLYCD):c.1245G>C (p.Ala415=)
|
|
|
NM_012213.3(MLYCD):c.1254C>A (p.Pro418=)
|
|
|
NM_012213.3(MLYCD):c.1254C>G (p.Pro418=)
|
|
|
NM_012213.3(MLYCD):c.1254C>T (p.Pro418=)
|
|
|
NM_012213.3(MLYCD):c.1260C>A (p.Ala420=)
|
|
|
NM_012213.3(MLYCD):c.1260C>T (p.Ala420=)
|
|
|
NM_012213.3(MLYCD):c.1270C>T (p.Leu424=)
|
|
|
NM_012213.3(MLYCD):c.1284G>A (p.Ala428=)
|
rs1205978566
|
|
NM_012213.3(MLYCD):c.1285G>A (p.Val429Met)
|
|
|
NM_012213.3(MLYCD):c.1290G>C (p.Leu430=)
|
|
|
NM_012213.3(MLYCD):c.1296C>T (p.Arg432=)
|
|
|
NM_012213.3(MLYCD):c.129G>T (p.Leu43=)
|
|
|
NM_012213.3(MLYCD):c.1302C>T (p.Asn434=)
|
rs1381165121
|
|
NM_012213.3(MLYCD):c.130C>T (p.Leu44=)
|
|
|
NM_012213.3(MLYCD):c.1311G>A (p.Ala437=)
|
|
|
NM_012213.3(MLYCD):c.1320C>T (p.Ser440=)
|
|
|
NM_012213.3(MLYCD):c.1323C>T (p.Leu441=)
|
|
|
NM_012213.3(MLYCD):c.1326A>G (p.Arg442=)
|
rs2151060171
|
|
NM_012213.3(MLYCD):c.1329C>A (p.Gly443=)
|
|
|
NM_012213.3(MLYCD):c.132G>A (p.Leu44=)
|
|
|
NM_012213.3(MLYCD):c.1335C>A (p.Thr445=)
|
rs373675093
|
|
NM_012213.3(MLYCD):c.1341C>T (p.Ser447=)
|
|
|
NM_012213.3(MLYCD):c.1356C>G (p.Ala452=)
|
|
|
NM_012213.3(MLYCD):c.1356C>T (p.Ala452=)
|
|
|
NM_012213.3(MLYCD):c.1362C>T (p.Tyr454=)
|
|
|
NM_012213.3(MLYCD):c.1365C>A (p.Arg455=)
|
|
|
NM_012213.3(MLYCD):c.1392C>T (p.Asn464=)
|
|
|
NM_012213.3(MLYCD):c.1398C>G (p.Thr466=)
|
|
|
NM_012213.3(MLYCD):c.1401C>T (p.Ser467=)
|
|
|
NM_012213.3(MLYCD):c.141G>C (p.Ala47=)
|
|
|
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg)
|
rs200413924
|
|
NM_012213.3(MLYCD):c.1424A>T (p.Lys475Ile)
|
rs200413924
|
|
NM_012213.3(MLYCD):c.1428C>T (p.Ala476=)
|
|
|
NM_012213.3(MLYCD):c.1431T>C (p.Ser477=)
|
|
|
NM_012213.3(MLYCD):c.1440C>T (p.Val480=)
|
|
|
NM_012213.3(MLYCD):c.1449A>G (p.Leu483=)
|
|
|
NM_012213.3(MLYCD):c.1479C>G (p.Leu493=)
|
|
|
NM_012213.3(MLYCD):c.159C>T (p.Ala53=)
|
|
|
NM_012213.3(MLYCD):c.165G>A (p.Glu55=)
|
|
|
NM_012213.3(MLYCD):c.174G>A (p.Glu58=)
|
|
|
NM_012213.3(MLYCD):c.177G>A (p.Lys59=)
|
|
|
NM_012213.3(MLYCD):c.180A>C (p.Thr60=)
|
|
|
NM_012213.3(MLYCD):c.180A>T (p.Thr60=)
|
rs760721204
|
|
NM_012213.3(MLYCD):c.18A>G (p.Pro6=)
|
rs1436058295
|
|
NM_012213.3(MLYCD):c.192C>T (p.Ala64=)
|
|
|
NM_012213.3(MLYCD):c.210C>T (p.Asp70=)
|
|
|
NM_012213.3(MLYCD):c.213C>T (p.Phe71=)
|
|
|
NM_012213.3(MLYCD):c.21C>A (p.Gly7=)
|
|
|
NM_012213.3(MLYCD):c.21C>G (p.Gly7=)
|
|
|
NM_012213.3(MLYCD):c.222C>T (p.Phe74=)
|
|
|
NM_012213.3(MLYCD):c.231G>A (p.Gly77=)
|
|
|
NM_012213.3(MLYCD):c.237C>A (p.Ala79=)
|
|
|
NM_012213.3(MLYCD):c.237C>G (p.Ala79=)
|
|
|
NM_012213.3(MLYCD):c.246C>G (p.Ala82=)
|
|
|
NM_012213.3(MLYCD):c.24G>A (p.Leu8=)
|
|
|
NM_012213.3(MLYCD):c.258A>G (p.Glu86=)
|
|
|
NM_012213.3(MLYCD):c.259C>T (p.Leu87=)
|
|
|
NM_012213.3(MLYCD):c.261G>A (p.Leu87=)
|
|
|
NM_012213.3(MLYCD):c.261G>C (p.Leu87=)
|
|
|
NM_012213.3(MLYCD):c.264G>A (p.Leu88=)
|
|
|
NM_012213.3(MLYCD):c.276G>T (p.Ala92=)
|
|
|
NM_012213.3(MLYCD):c.27G>A (p.Thr9=)
|
|
|
NM_012213.3(MLYCD):c.27G>T (p.Thr9=)
|
|
|
NM_012213.3(MLYCD):c.291G>A (p.Val97=)
|
|
|
NM_012213.3(MLYCD):c.300C>A (p.Gly100=)
|
|
|
NM_012213.3(MLYCD):c.306G>A (p.Val102=)
|
|
|
NM_012213.3(MLYCD):c.309G>A (p.Ala103=)
|
rs1361444055
|
|
NM_012213.3(MLYCD):c.30C>G (p.Ala10=)
|
|
|
NM_012213.3(MLYCD):c.30C>T (p.Ala10=)
|
|
|
NM_012213.3(MLYCD):c.312G>A (p.Glu104=)
|
|
|
NM_012213.3(MLYCD):c.321C>T (p.Ala107=)
|
|
|
NM_012213.3(MLYCD):c.327G>T (p.Val109=)
|
|
|
NM_012213.3(MLYCD):c.330C>G (p.Leu110=)
|
|
|
NM_012213.3(MLYCD):c.336G>A (p.Leu112=)
|
|
|
NM_012213.3(MLYCD):c.342G>A (p.Gln114=)
|
|
|
NM_012213.3(MLYCD):c.351G>A (p.Arg117=)
|
|
|
NM_012213.3(MLYCD):c.360G>C (p.Ala120=)
|
rs2151053260
|
|
NM_012213.3(MLYCD):c.366G>C (p.Leu122=)
|
|
|
NM_012213.3(MLYCD):c.367C>T (p.Leu123=)
|
|
|
NM_012213.3(MLYCD):c.369G>A (p.Leu123=)
|
|
|
NM_012213.3(MLYCD):c.36T>G (p.Arg12=)
|
|
|
NM_012213.3(MLYCD):c.375C>T (p.Ala125=)
|
|
|
NM_012213.3(MLYCD):c.381C>T (p.Asp127=)
|
|
|
NM_012213.3(MLYCD):c.384G>C (p.Arg128=)
|
|
|
NM_012213.3(MLYCD):c.390C>G (p.Arg130=)
|
|
|
NM_012213.3(MLYCD):c.390C>T (p.Arg130=)
|
|
|
NM_012213.3(MLYCD):c.399G>C (p.Leu133=)
|
|
|
NM_012213.3(MLYCD):c.408C>T (p.Arg136=)
|
|
|
NM_012213.3(MLYCD):c.414C>A (p.Arg138=)
|
|
|
NM_012213.3(MLYCD):c.414C>T (p.Arg138=)
|
|
|
NM_012213.3(MLYCD):c.417C>T (p.Gly139=)
|
|
|
NM_012213.3(MLYCD):c.429C>T (p.His143=)
|
|
|
NM_012213.3(MLYCD):c.42C>A (p.Leu14=)
|
|
|
NM_012213.3(MLYCD):c.42C>T (p.Leu14=)
|
|
|
NM_012213.3(MLYCD):c.447C>G (p.Gly149=)
|
|
|
NM_012213.3(MLYCD):c.453G>T (p.Val151=)
|
|
|
NM_012213.3(MLYCD):c.456C>G (p.Arg152=)
|
|
|
NM_012213.3(MLYCD):c.459C>T (p.Phe153=)
|
rs1397996961
|
|
NM_012213.3(MLYCD):c.460C>T (p.Leu154=)
|
|
|
NM_012213.3(MLYCD):c.462G>C (p.Leu154=)
|
rs754508753
|
|
NM_012213.3(MLYCD):c.477C>G (p.Ala159=)
|
|
|
NM_012213.3(MLYCD):c.477C>T (p.Ala159=)
|
|
|
NM_012213.3(MLYCD):c.480C>T (p.Asp160=)
|
|
|
NM_012213.3(MLYCD):c.481C>T (p.Leu161=)
|
|
|
NM_012213.3(MLYCD):c.483G>C (p.Leu161=)
|
|
|
NM_012213.3(MLYCD):c.498C>T (p.Ala166=)
|
|
|
NM_012213.3(MLYCD):c.507G>C (p.Leu169=)
|
|
|
NM_012213.3(MLYCD):c.510G>A (p.Val170=)
|
|
|
NM_012213.3(MLYCD):c.519G>A (p.Pro173=)
|
|
|
NM_012213.3(MLYCD):c.519G>C (p.Pro173=)
|
|
|
NM_012213.3(MLYCD):c.525C>G (p.Val175=)
|
|
|
NM_012213.3(MLYCD):c.528+12C>T
|
|
|
NM_012213.3(MLYCD):c.528+17G>A
|
|
|
NM_012213.3(MLYCD):c.528+18_528+19insC
|
|
|
NM_012213.3(MLYCD):c.528+19T>A
|
|
|
NM_012213.3(MLYCD):c.528+19T>G
|
rs446036
|
|
NM_012213.3(MLYCD):c.528+8del
|
rs1192718101
|
|
NM_012213.3(MLYCD):c.529-10T>C
|
|
|
NM_012213.3(MLYCD):c.529-11C>A
|
|
|
NM_012213.3(MLYCD):c.529-12T>C
|
|
|
NM_012213.3(MLYCD):c.529-20A>T
|
|
|
NM_012213.3(MLYCD):c.529-9_529-8delinsGT
|
|
|
NM_012213.3(MLYCD):c.531A>G (p.Glu177=)
|
|
|
NM_012213.3(MLYCD):c.54G>A (p.Leu18=)
|
|
|
NM_012213.3(MLYCD):c.558C>T (p.Leu186=)
|
|
|
NM_012213.3(MLYCD):c.573C>G (p.Ser191=)
|
|
|
NM_012213.3(MLYCD):c.573C>T (p.Ser191=)
|
|
|
NM_012213.3(MLYCD):c.582C>T (p.Phe194=)
|
|
|
NM_012213.3(MLYCD):c.585G>T (p.Leu195=)
|
|
|
NM_012213.3(MLYCD):c.589C>T (p.Leu197=)
|
|
|
NM_012213.3(MLYCD):c.609T>C (p.His203=)
|
|
|
NM_012213.3(MLYCD):c.615G>C (p.Pro205=)
|
|
|
NM_012213.3(MLYCD):c.641+10dup
|
|
|
NM_012213.3(MLYCD):c.641+7A>G
|
|
|
NM_012213.3(MLYCD):c.641+9T>C
|
|
|
NM_012213.3(MLYCD):c.642-15del
|
|
|
NM_012213.3(MLYCD):c.642-18_642-17del
|
|
|
NM_012213.3(MLYCD):c.642-19T>C
|
|
|
NM_012213.3(MLYCD):c.642-20C>G
|
|
|
NM_012213.3(MLYCD):c.642-4C>G
|
|
|
NM_012213.3(MLYCD):c.642-6C>A
|
|
|
NM_012213.3(MLYCD):c.642-7G>A
|
|
|
NM_012213.3(MLYCD):c.642-7G>T
|
|
|
NM_012213.3(MLYCD):c.642-8C>G
|
rs757354610
|
|
NM_012213.3(MLYCD):c.642-8C>T
|
|
|
NM_012213.3(MLYCD):c.642-9C>G
|
|
|
NM_012213.3(MLYCD):c.642-9C>T
|
|
|
NM_012213.3(MLYCD):c.657T>C (p.His219=)
|
|
|
NM_012213.3(MLYCD):c.663A>G (p.Val221=)
|
|
|
NM_012213.3(MLYCD):c.66G>A (p.Pro22=)
|
|
|
NM_012213.3(MLYCD):c.684G>A (p.Lys228=)
|
|
|
NM_012213.3(MLYCD):c.687C>T (p.Arg229=)
|
|
|
NM_012213.3(MLYCD):c.690C>T (p.Arg230=)
|
|
|
NM_012213.3(MLYCD):c.699C>T (p.Pro233=)
|
|
|
NM_012213.3(MLYCD):c.69C>G (p.Pro23=)
|
|
|
NM_012213.3(MLYCD):c.702C>T (p.Tyr234=)
|
|
|
NM_012213.3(MLYCD):c.708G>A (p.Arg236=)
|
|
|
NM_012213.3(MLYCD):c.717C>T (p.Phe239=)
|
|
|
NM_012213.3(MLYCD):c.723T>G (p.Ser241=)
|
|
|
NM_012213.3(MLYCD):c.72G>A (p.Gly24=)
|
|
|
NM_012213.3(MLYCD):c.72G>T (p.Gly24=)
|
|
|
NM_012213.3(MLYCD):c.744G>A (p.Glu248=)
|
|
|
NM_012213.3(MLYCD):c.750G>A (p.Leu250=)
|
|
|
NM_012213.3(MLYCD):c.750G>C (p.Leu250=)
|
|
|
NM_012213.3(MLYCD):c.753C>T (p.Val251=)
|
|
|
NM_012213.3(MLYCD):c.769C>T (p.Leu257=)
|
|
|
NM_012213.3(MLYCD):c.76C>A (p.Arg26=)
|
|
|
NM_012213.3(MLYCD):c.786C>G (p.Ser262=)
|
|
|
NM_012213.3(MLYCD):c.789C>T (p.Ser263=)
|
|
|
NM_012213.3(MLYCD):c.798+11T>C
|
|
|
NM_012213.3(MLYCD):c.798+17A>T
|
|
|
NM_012213.3(MLYCD):c.798+20C>T
|
|
|
NM_012213.3(MLYCD):c.798+9G>C
|
|
|
NM_012213.3(MLYCD):c.799-19C>A
|
|
|
NM_012213.3(MLYCD):c.813A>G (p.Glu271=)
|
|
|
NM_012213.3(MLYCD):c.822A>C (p.Pro274=)
|
|
|
NM_012213.3(MLYCD):c.837G>A (p.Glu279=)
|
|
|
NM_012213.3(MLYCD):c.849C>T (p.Ile283=)
|
|
|
NM_012213.3(MLYCD):c.84G>T (p.Ala28=)
|
|
|
NM_012213.3(MLYCD):c.858G>A (p.Ala286=)
|
|
|
NM_012213.3(MLYCD):c.858G>C (p.Ala286=)
|
|
|
NM_012213.3(MLYCD):c.861C>A (p.Ile287=)
|
rs957509653
|
|
NM_012213.3(MLYCD):c.861C>T (p.Ile287=)
|
|
|
NM_012213.3(MLYCD):c.870C>T (p.Ser290=)
|
|
|
NM_012213.3(MLYCD):c.873C>T (p.Ile291=)
|
|
|
NM_012213.3(MLYCD):c.876C>T (p.Ser292=)
|
|
|
NM_012213.3(MLYCD):c.897A>G (p.Gln299=)
|
|
|
NM_012213.3(MLYCD):c.906G>A (p.Glu302=)
|
|
|
NM_012213.3(MLYCD):c.921C>G (p.Leu307=)
|
|
|
NM_012213.3(MLYCD):c.921C>T (p.Leu307=)
|
|
|
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln)
|
rs146465073
|
|
NM_012213.3(MLYCD):c.930A>C (p.Arg310=)
|
|
|
NM_012213.3(MLYCD):c.936C>T (p.Val312=)
|
|
|
NM_012213.3(MLYCD):c.93G>A (p.Gln31=)
|
|
|
NM_012213.3(MLYCD):c.948+11C>G
|
|
|
NM_012213.3(MLYCD):c.948+12G>A
|
|
|
NM_012213.3(MLYCD):c.948+12G>T
|
|
|
NM_012213.3(MLYCD):c.948+17G>T
|
|
|
NM_012213.3(MLYCD):c.948+19G>A
|
|
|
NM_012213.3(MLYCD):c.948+20C>T
|
|
|
NM_012213.3(MLYCD):c.948+8A>G
|
rs2151058806
|
|
NM_012213.3(MLYCD):c.948+9C>T
|
rs2151058807
|
|
NM_012213.3(MLYCD):c.949-10T>C
|
|
|
NM_012213.3(MLYCD):c.949-11A>G
|
|
|
NM_012213.3(MLYCD):c.949-13C>T
|
|
|
NM_012213.3(MLYCD):c.949-16C>T
|
|
|
NM_012213.3(MLYCD):c.949-17C>G
|
|
|
NM_012213.3(MLYCD):c.949-17C>T
|
|
|
NM_012213.3(MLYCD):c.949-19C>T
|
|
|
NM_012213.3(MLYCD):c.949-5T>C
|
|
|
NM_012213.3(MLYCD):c.949-9G>C
|
|
|
NM_012213.3(MLYCD):c.96G>A (p.Ala32=)
|
|
|
NM_012213.3(MLYCD):c.972G>A (p.Val324=)
|
|
|
NM_012213.3(MLYCD):c.984G>T (p.Leu328=)
|
rs765416276
|
|
NM_012213.3(MLYCD):c.9C>G (p.Gly3=)
|
|
|
NM_012213.3(MLYCD):c.9C>T (p.Gly3=)
|
rs1417139377
|
|
NM_014251.3(SLC25A13):c.1000C>T (p.Leu334=)
|
rs769297213
|
|
NM_014251.3(SLC25A13):c.1008T>C (p.Ser336=)
|
rs780663014
|
|
NM_014251.3(SLC25A13):c.1018+8A>G
|
rs2116631280
|
|
NM_014251.3(SLC25A13):c.1018+9T>C
|
|
|
NM_014251.3(SLC25A13):c.1019-12G>A
|
|
|
NM_014251.3(SLC25A13):c.1019-20A>G
|
|
|
NM_014251.3(SLC25A13):c.1019-7A>C
|
|
|
NM_014251.3(SLC25A13):c.1020T>C (p.Ala340=)
|
|
|
NM_014251.3(SLC25A13):c.1029C>A (p.Ala343=)
|
rs747945892
|
|
NM_014251.3(SLC25A13):c.1038G>A (p.Val346=)
|
rs2116629531
|
|
NM_014251.3(SLC25A13):c.1053T>C (p.Leu351=)
|
|
|
NM_014251.3(SLC25A13):c.1056A>G (p.Val352=)
|
|
|
NM_014251.3(SLC25A13):c.1077A>G (p.Gln359=)
|
rs2116629319
|
|
NM_014251.3(SLC25A13):c.1078C>A (p.Arg360=)
|
rs80338721
|
|
NM_014251.3(SLC25A13):c.1080A>G (p.Arg360=)
|
|
|
NM_014251.3(SLC25A13):c.1084A>G (p.Thr362Ala)
|
|
|
NM_014251.3(SLC25A13):c.108C>G (p.Ser36=)
|
rs896670252
|
|
NM_014251.3(SLC25A13):c.1104A>G (p.Glu368=)
|
rs2116629184
|
|
NM_014251.3(SLC25A13):c.1107C>A (p.Leu369=)
|
rs1372631359
|
|
NM_014251.3(SLC25A13):c.1107C>T (p.Leu369=)
|
rs1372631359
|
|
NM_014251.3(SLC25A13):c.111C>T (p.Pro37=)
|
|
|
NM_014251.3(SLC25A13):c.1143G>A (p.Val381=)
|
rs2116629012
|
|
NM_014251.3(SLC25A13):c.1158C>G (p.Gly386=)
|
|
|
NM_014251.3(SLC25A13):c.1177+12A>G
|
|
|
NM_014251.3(SLC25A13):c.1177+15C>G
|
|
|
NM_014251.3(SLC25A13):c.1177+17C>T
|
|
|
NM_014251.3(SLC25A13):c.1177+7G>A
|
rs1330614401
|
|
NM_014251.3(SLC25A13):c.1178-13T>C
|
|
|
NM_014251.3(SLC25A13):c.1178-19A>G
|
|
|
NM_014251.3(SLC25A13):c.117C>T (p.Asp39=)
|
rs2116939283
|
|
NM_014251.3(SLC25A13):c.1182G>C (p.Leu394=)
|
|
|
NM_014251.3(SLC25A13):c.1195T>C (p.Leu399=)
|
|
|
NM_014251.3(SLC25A13):c.1206C>T (p.Ala402=)
|
rs774051691
|
|
NM_014251.3(SLC25A13):c.1230+15T>G
|
|
|
NM_014251.3(SLC25A13):c.1230+18G>A
|
|
|
NM_014251.3(SLC25A13):c.1230+18G>C
|
|
|
NM_014251.3(SLC25A13):c.1230+20G>A
|
|
|
NM_014251.3(SLC25A13):c.1230+20G>C
|
|
|
NM_014251.3(SLC25A13):c.1230+7C>G
|
|
|
NM_014251.3(SLC25A13):c.1231-14T>A
|
|
|
NM_014251.3(SLC25A13):c.1231-20T>A
|
|
|
NM_014251.3(SLC25A13):c.1245G>A (p.Val415=)
|
|
|
NM_014251.3(SLC25A13):c.1248G>A (p.Arg416=)
|
|
|
NM_014251.3(SLC25A13):c.1251T>C (p.Asp417=)
|
|
|
NM_014251.3(SLC25A13):c.1254A>G (p.Lys418=)
|
rs1584404332
|
|
NM_014251.3(SLC25A13):c.1263C>T (p.His421=)
|
rs1793936845
|
|
NM_014251.3(SLC25A13):c.1269T>C (p.Asp423=)
|
rs2116576946
|
|
NM_014251.3(SLC25A13):c.1278C>T (p.Val426=)
|
rs1584404250
|
|
NM_014251.3(SLC25A13):c.129A>T (p.Arg43=)
|
|
|
NM_014251.3(SLC25A13):c.1311+8C>T
|
|
|
NM_014251.3(SLC25A13):c.1311+9C>T
|
rs2116576668
|
|
NM_014251.3(SLC25A13):c.1312-13T>C
|
|
|
NM_014251.3(SLC25A13):c.1345T>C (p.Leu449=)
|
|
|
NM_014251.3(SLC25A13):c.1362C>A (p.Ile454=)
|
|
|
NM_014251.3(SLC25A13):c.1377A>G (p.Ala459=)
|
rs2116481872
|
|
NM_014251.3(SLC25A13):c.1410T>G (p.Ala470=)
|
rs2116481670
|
|
NM_014251.3(SLC25A13):c.1410_1411delinsCT (p.Ala470_Leu471=)
|
rs2116481663
|
|
NM_014251.3(SLC25A13):c.1411C>T (p.Leu471=)
|
rs1379185703
|
|
NM_014251.3(SLC25A13):c.1413G>T (p.Leu471=)
|
rs780063972
|
|
NM_014251.3(SLC25A13):c.1425G>A (p.Arg475=)
|
rs761211929
|
|
NM_014251.3(SLC25A13):c.1431G>C (p.Leu477=)
|
|
|
NM_014251.3(SLC25A13):c.1449C>T (p.Tyr483=)
|
|
|
NM_014251.3(SLC25A13):c.1452+18T>G
|
|
|
NM_014251.3(SLC25A13):c.1452+19T>G
|
|
|
NM_014251.3(SLC25A13):c.1452+20A>T
|
|
|
NM_014251.3(SLC25A13):c.1452+20del
|
|
|
NM_014251.3(SLC25A13):c.1452+9_1452+10insG
|
rs771592795
|
|
NM_014251.3(SLC25A13):c.1453-11C>T
|
|
|
NM_014251.3(SLC25A13):c.1453-17C>A
|
|
|
NM_014251.3(SLC25A13):c.1453-4G>T
|
|
|
NM_014251.3(SLC25A13):c.1453-7T>C
|
|
|
NM_014251.3(SLC25A13):c.1464A>C (p.Ala488=)
|
rs1244207348
|
|
NM_014251.3(SLC25A13):c.1464A>G (p.Ala488=)
|
rs1244207348
|
|
NM_014251.3(SLC25A13):c.1467C>T (p.Cys489=)
|
|
|
NM_014251.3(SLC25A13):c.1473G>A (p.Leu491=)
|
|
|
NM_014251.3(SLC25A13):c.1491G>A (p.Ser497=)
|
|
|
NM_014251.3(SLC25A13):c.15+15G>C
|
|
|
NM_014251.3(SLC25A13):c.15+7G>A
|
|
|
NM_014251.3(SLC25A13):c.15+8C>T
|
|
|
NM_014251.3(SLC25A13):c.15+9G>A
|
rs1044447024
|
|
NM_014251.3(SLC25A13):c.1509C>T (p.Cys503=)
|
rs2116425913
|
|
NM_014251.3(SLC25A13):c.1515T>C (p.Ala505=)
|
rs1198514509
|
|
NM_014251.3(SLC25A13):c.1524G>A (p.Lys508=)
|
rs1792043109
|
|
NM_014251.3(SLC25A13):c.153C>T (p.Ser51=)
|
rs1584551771
|
|
NM_014251.3(SLC25A13):c.1548G>A (p.Gly516=)
|
rs750610043
|
|
NM_014251.3(SLC25A13):c.1567C>T (p.Leu523=)
|
rs2116425512
|
|
NM_014251.3(SLC25A13):c.1569G>C (p.Leu523=)
|
rs1792040536
|
|
NM_014251.3(SLC25A13):c.1572C>T (p.Leu524=)
|
|
|
NM_014251.3(SLC25A13):c.1578T>G (p.Ala526=)
|
|
|
NM_014251.3(SLC25A13):c.1581T>G (p.Gly527=)
|
rs1792040031
|
|
NM_014251.3(SLC25A13):c.1591+10C>G
|
rs1457922451
|
|
NM_014251.3(SLC25A13):c.1591+10C>T
|
|
|
NM_014251.3(SLC25A13):c.1591+11C>T
|
|
|
NM_014251.3(SLC25A13):c.1591+13C>A
|
|
|
NM_014251.3(SLC25A13):c.1591+14A>G
|
|
|
NM_014251.3(SLC25A13):c.1591+17G>A
|
|
|
NM_014251.3(SLC25A13):c.1591+19G>A
|
|
|
NM_014251.3(SLC25A13):c.1591+7G>A
|
rs1562782419
|
|
NM_014251.3(SLC25A13):c.1591+9C>G
|
|
|
NM_014251.3(SLC25A13):c.1591+9C>T
|
rs1183597028
|
|
NM_014251.3(SLC25A13):c.1592-13G>A
|
|
|
NM_014251.3(SLC25A13):c.1592-13_1592-12del
|
|
|
NM_014251.3(SLC25A13):c.1592-14T>C
|
|
|
NM_014251.3(SLC25A13):c.1592-15G>T
|
|
|
NM_014251.3(SLC25A13):c.1592-20G>T
|
|
|
NM_014251.3(SLC25A13):c.1592-4G>T
|
|
|
NM_014251.3(SLC25A13):c.1592-7C>T
|
rs2116384875
|
|
NM_014251.3(SLC25A13):c.1592-9C>G
|
|
|
NM_014251.3(SLC25A13):c.1592-9C>T
|
rs2116384900
|
|
NM_014251.3(SLC25A13):c.159T>C (p.Pro53=)
|
rs767377944
|
|
NM_014251.3(SLC25A13):c.16-10T>C
|
|
|
NM_014251.3(SLC25A13):c.16-12G>A
|
|
|
NM_014251.3(SLC25A13):c.16-12G>T
|
|
|
NM_014251.3(SLC25A13):c.16-14_16-13del
|
|
|
NM_014251.3(SLC25A13):c.16-8A>G
|
|
|
NM_014251.3(SLC25A13):c.1602A>G (p.Ala534=)
|
|
|
NM_014251.3(SLC25A13):c.1605A>G (p.Ala535=)
|
|
|
NM_014251.3(SLC25A13):c.1608T>C (p.Ser536=)
|
rs768148130
|
|
NM_014251.3(SLC25A13):c.1611A>G (p.Leu537=)
|
|
|
NM_014251.3(SLC25A13):c.1617C>G (p.Thr539=)
|
|
|
NM_014251.3(SLC25A13):c.1635G>A (p.Lys545=)
|
rs756177534
|
|
NM_014251.3(SLC25A13):c.1644A>G (p.Leu548=)
|
rs1226619904
|
|
NM_014251.3(SLC25A13):c.1647G>A (p.Gln549=)
|
rs2116384374
|
|
NM_014251.3(SLC25A13):c.1650G>T (p.Val550=)
|
rs2116384346
|
|
NM_014251.3(SLC25A13):c.1653T>C (p.Ala551=)
|
rs2116384330
|
|
NM_014251.3(SLC25A13):c.1656C>T (p.Ala552=)
|
rs765072433
|
|
NM_014251.3(SLC25A13):c.1662T>C (p.Ala554=)
|
rs2116384173
|
|
NM_014251.3(SLC25A13):c.1668A>G (p.Gln556=)
|
|
|
NM_014251.3(SLC25A13):c.1689A>T (p.Ile563=)
|
rs2116383941
|
|
NM_014251.3(SLC25A13):c.168G>A (p.Lys56=)
|
|
|
NM_014251.3(SLC25A13):c.1722A>T (p.Gly574=)
|
rs760315798
|
|
NM_014251.3(SLC25A13):c.1725A>G (p.Pro575=)
|
|
|
NM_014251.3(SLC25A13):c.1725A>T (p.Pro575=)
|
|
|
NM_014251.3(SLC25A13):c.1740G>A (p.Lys580=)
|
rs1791522939
|
|
NM_014251.3(SLC25A13):c.1750+13T>C
|
|
|
NM_014251.3(SLC25A13):c.1750+14G>A
|
|
|
NM_014251.3(SLC25A13):c.1750+16G>A
|
|
|
NM_014251.3(SLC25A13):c.1750+18T>C
|
|
|
NM_014251.3(SLC25A13):c.1751-12_1751-10del
|
rs752982681
|
|
NM_014251.3(SLC25A13):c.1751-21G>A
|
|
|
NM_014251.3(SLC25A13):c.1751-22T>C
|
rs2116383375
|
|
NM_014251.3(SLC25A13):c.1751-23G>T
|
|
|
NM_014251.3(SLC25A13):c.1751-26T>C
|
|
|
NM_014251.3(SLC25A13):c.1751-27A>G
|
rs368163332
|
|
NM_014251.3(SLC25A13):c.1751-27A>T
|
rs368163332
|
|
NM_014251.3(SLC25A13):c.1751-28T>C
|
|
|
NM_014251.3(SLC25A13):c.1751-7T>C
|
rs2116383263
|
|
NM_014251.3(SLC25A13):c.1751-9T>C
|
|
|
NM_014251.3(SLC25A13):c.1751-9T>G
|
|
|
NM_014251.3(SLC25A13):c.1788T>C (p.Thr596=)
|
|
|
NM_014251.3(SLC25A13):c.1789T>C (p.Leu597=)
|
|
|
NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=)
|
rs757177279
|
|
NM_014251.3(SLC25A13):c.1797T>G (p.Thr599=)
|
|
|
NM_014251.3(SLC25A13):c.1806G>A (p.Leu602=)
|
rs2116382744
|
|
NM_014251.3(SLC25A13):c.1809A>G (p.Leu603=)
|
rs755823140
|
|
NM_014251.3(SLC25A13):c.1812G>A (p.Gln604=)
|
|
|
NM_014251.3(SLC25A13):c.1841+12G>C
|
|
|
NM_014251.3(SLC25A13):c.1841+13C>A
|
|
|
NM_014251.3(SLC25A13):c.1841+17A>G
|
|
|
NM_014251.3(SLC25A13):c.1841+18T>C
|
|
|
NM_014251.3(SLC25A13):c.1841+19C>T
|
|
|
NM_014251.3(SLC25A13):c.1841+9C>T
|
rs2116382480
|
|
NM_014251.3(SLC25A13):c.1845A>G (p.Lys615=)
|
rs751199034
|
|
NM_014251.3(SLC25A13):c.1854A>C (p.Gly618=)
|
rs760572056
|
|
NM_014251.3(SLC25A13):c.1905T>C (p.Asp635=)
|
rs1791493740
|
|
NM_014251.3(SLC25A13):c.1908C>T (p.His636=)
|
rs2116380705
|
|
NM_014251.3(SLC25A13):c.1924C>T (p.Leu642=)
|
rs2116380508
|
|
NM_014251.3(SLC25A13):c.1935T>G (p.Ala645=)
|
rs1250676895
|
|
NM_014251.3(SLC25A13):c.1938A>G (p.Thr646=)
|
|
|
NM_014251.3(SLC25A13):c.1944A>C (p.Ala648=)
|
rs1791491213
|
|
NM_014251.3(SLC25A13):c.195G>A (p.Val65=)
|
rs2116938852
|
|
NM_014251.3(SLC25A13):c.1971C>T (p.Tyr657=)
|
|
|
NM_014251.3(SLC25A13):c.1972C>T (p.Leu658=)
|
rs1791489001
|
|
NM_014251.3(SLC25A13):c.1977T>C (p.Pro659=)
|
|
|
NM_014251.3(SLC25A13):c.1983C>T (p.Phe661=)
|
rs2116380137
|
|
NM_014251.3(SLC25A13):c.1995A>G (p.Val665=)
|
|
|
NM_014251.3(SLC25A13):c.1998T>C (p.Ser666=)
|
|
|
NM_014251.3(SLC25A13):c.2004A>G (p.Ser668=)
|
|
|
NM_014251.3(SLC25A13):c.2013T>C (p.Ile671=)
|
|
|
NM_014251.3(SLC25A13):c.201G>A (p.Gln67=)
|
|
|
NM_014251.3(SLC25A13):c.212+13T>G
|
|
|
NM_014251.3(SLC25A13):c.213-14_213-10del
|
rs757915456
|
|
NM_014251.3(SLC25A13):c.213-19T>C
|
|
|
NM_014251.3(SLC25A13):c.213-20A>G
|
|
|
NM_014251.3(SLC25A13):c.213-4G>C
|
|
|
NM_014251.3(SLC25A13):c.213-7G>T
|
rs2116815938
|
|
NM_014251.3(SLC25A13):c.21T>C (p.Ala7=)
|
rs1336480972
|
|
NM_014251.3(SLC25A13):c.231A>G (p.Glu77=)
|
|
|
NM_014251.3(SLC25A13):c.252C>G (p.Val84=)
|
rs2116815724
|
|
NM_014251.3(SLC25A13):c.255G>C (p.Leu85=)
|
|
|
NM_014251.3(SLC25A13):c.270T>A (p.Ala90=)
|
|
|
NM_014251.3(SLC25A13):c.270T>C (p.Ala90=)
|
|
|
NM_014251.3(SLC25A13):c.276T>C (p.Phe92=)
|
rs2116815561
|
|
NM_014251.3(SLC25A13):c.294G>A (p.Leu98=)
|
|
|
NM_014251.3(SLC25A13):c.294G>T (p.Leu98=)
|
rs1033654356
|
|
NM_014251.3(SLC25A13):c.328+10A>G
|
rs2116815256
|
|
NM_014251.3(SLC25A13):c.328+14T>C
|
|
|
NM_014251.3(SLC25A13):c.328+14T>G
|
|
|
NM_014251.3(SLC25A13):c.328+18G>A
|
|
|
NM_014251.3(SLC25A13):c.328+7A>G
|
|
|
NM_014251.3(SLC25A13):c.328+8G>A
|
rs2116815272
|
|
NM_014251.3(SLC25A13):c.329-11T>C
|
|
|
NM_014251.3(SLC25A13):c.329-13T>C
|
|
|
NM_014251.3(SLC25A13):c.329-16T>C
|
|
|
NM_014251.3(SLC25A13):c.329-20C>G
|
|
|
NM_014251.3(SLC25A13):c.333T>C (p.Asp111=)
|
rs1349801909
|
|
NM_014251.3(SLC25A13):c.357C>T (p.Thr119=)
|
|
|
NM_014251.3(SLC25A13):c.378A>G (p.Pro126=)
|
rs1318385882
|
|
NM_014251.3(SLC25A13):c.402G>A (p.Val134=)
|
rs1795572796
|
|
NM_014251.3(SLC25A13):c.42A>C (p.Pro14=)
|
|
|
NM_014251.3(SLC25A13):c.438G>T (p.Leu146=)
|
rs140121008
|
|
NM_014251.3(SLC25A13):c.444T>C (p.Tyr148=)
|
rs1179803348
|
|
NM_014251.3(SLC25A13):c.453T>C (p.Phe151=)
|
|
|
NM_014251.3(SLC25A13):c.466T>C (p.Leu156=)
|
rs1795568578
|
|
NM_014251.3(SLC25A13):c.468+10G>C
|
|
|
NM_014251.3(SLC25A13):c.468+11C>A
|
|
|
NM_014251.3(SLC25A13):c.468+11C>T
|
|
|
NM_014251.3(SLC25A13):c.468+19_468+20insT
|
|
|
NM_014251.3(SLC25A13):c.468+7C>T
|
|
|
NM_014251.3(SLC25A13):c.468+8T>A
|
rs1436723624
|
|
NM_014251.3(SLC25A13):c.469-12C>A
|
|
|
NM_014251.3(SLC25A13):c.469-12_469-9del
|
|
|
NM_014251.3(SLC25A13):c.469-13T>G
|
|
|
NM_014251.3(SLC25A13):c.469-13del
|
|
|
NM_014251.3(SLC25A13):c.469-14T>A
|
|
|
NM_014251.3(SLC25A13):c.469-17A>C
|
|
|
NM_014251.3(SLC25A13):c.469-17A>G
|
|
|
NM_014251.3(SLC25A13):c.469-17A>T
|
|
|
NM_014251.3(SLC25A13):c.469-19T>C
|
|
|
NM_014251.3(SLC25A13):c.471A>G (p.Glu157=)
|
|
|
NM_014251.3(SLC25A13):c.477A>G (p.Gln159=)
|
rs2116663498
|
|
NM_014251.3(SLC25A13):c.486C>T (p.His162=)
|
rs1562831788
|
|
NM_014251.3(SLC25A13):c.48G>A (p.Glu16=)
|
|
|
NM_014251.3(SLC25A13):c.492G>A (p.Lys164=)
|
rs2116663375
|
|
NM_014251.3(SLC25A13):c.504G>A (p.Val168=)
|
|
|
NM_014251.3(SLC25A13):c.508C>A (p.Arg170=)
|
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|
NM_014251.3(SLC25A13):c.528G>A (p.Gly176=)
|
|
|
NM_014251.3(SLC25A13):c.534C>G (p.Val178=)
|
|
|
NM_014251.3(SLC25A13):c.537A>C (p.Thr179=)
|
|
|
NM_014251.3(SLC25A13):c.543C>A (p.Ile181=)
|
rs370372951
|
|
NM_014251.3(SLC25A13):c.564C>T (p.Val188=)
|
|
|
NM_014251.3(SLC25A13):c.567C>T (p.Thr189=)
|
rs2116662877
|
|
NM_014251.3(SLC25A13):c.573C>T (p.Arg191=)
|
|
|
NM_014251.3(SLC25A13):c.582C>A (p.Val194=)
|
rs1311802793
|
|
NM_014251.3(SLC25A13):c.582C>G (p.Val194=)
|
|
|
NM_014251.3(SLC25A13):c.597A>G (p.Val199=)
|
|
|
NM_014251.3(SLC25A13):c.60A>T (p.Ile20=)
|
rs745497684
|
|
NM_014251.3(SLC25A13):c.615+13T>C
|
|
|
NM_014251.3(SLC25A13):c.615+15G>T
|
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|
NM_014251.3(SLC25A13):c.615+19T>C
|
|
|
NM_014251.3(SLC25A13):c.615+8G>T
|
rs557575818
|
|
NM_014251.3(SLC25A13):c.616-15T>C
|
|
|
NM_014251.3(SLC25A13):c.624A>C (p.Gly208=)
|
|
|
NM_014251.3(SLC25A13):c.633A>C (p.Thr211=)
|
rs1794836188
|
|
NM_014251.3(SLC25A13):c.633A>G (p.Thr211=)
|
|
|
NM_014251.3(SLC25A13):c.654C>T (p.Ser218=)
|
rs1794834839
|
|
NM_014251.3(SLC25A13):c.663T>C (p.Asn221=)
|
rs1794834417
|
|
NM_014251.3(SLC25A13):c.666A>T (p.Gly222=)
|
|
|
NM_014251.3(SLC25A13):c.66G>A (p.Leu22=)
|
rs2116994800
|
|
NM_014251.3(SLC25A13):c.675G>T (p.Ser225=)
|
rs78247004
|
|
NM_014251.3(SLC25A13):c.678C>G (p.Leu226=)
|
rs760655625
|
|
NM_014251.3(SLC25A13):c.69+12G>A
|
|
|
NM_014251.3(SLC25A13):c.69+15A>G
|
|
|
NM_014251.3(SLC25A13):c.69+7A>G
|
|
|
NM_014251.3(SLC25A13):c.693A>G (p.Glu231=)
|
|
|
NM_014251.3(SLC25A13):c.70-13T>G
|
|
|
NM_014251.3(SLC25A13):c.70-17T>A
|
|
|
NM_014251.3(SLC25A13):c.70-18T>C
|
|
|
NM_014251.3(SLC25A13):c.70-4dup
|
|
|
NM_014251.3(SLC25A13):c.70-7T>A
|
|
|
NM_014251.3(SLC25A13):c.70-7T>C
|
|
|
NM_014251.3(SLC25A13):c.711T>C (p.Tyr237=)
|
rs886062529
|
|
NM_014251.3(SLC25A13):c.714C>T (p.Ser238=)
|
|
|
NM_014251.3(SLC25A13):c.729C>G (p.Thr243=)
|
|
|
NM_014251.3(SLC25A13):c.732G>A (p.Arg244=)
|
|
|
NM_014251.3(SLC25A13):c.744A>G (p.Glu248=)
|
|
|
NM_014251.3(SLC25A13):c.747G>C (p.Val249=)
|
|
|
NM_014251.3(SLC25A13):c.747G>T (p.Val249=)
|
|
|
NM_014251.3(SLC25A13):c.754+10A>C
|
|
|
NM_014251.3(SLC25A13):c.754+13A>T
|
|
|
NM_014251.3(SLC25A13):c.754+16T>G
|
|
|
NM_014251.3(SLC25A13):c.754+17C>T
|
|
|
NM_014251.3(SLC25A13):c.754+8A>C
|
|
|
NM_014251.3(SLC25A13):c.755-10T>C
|
|
|
NM_014251.3(SLC25A13):c.755-15T>G
|
|
|
NM_014251.3(SLC25A13):c.755-24_755-3del
|
rs746604745
|
|
NM_014251.3(SLC25A13):c.755-5T>C
|
rs2116650285
|
|
NM_014251.3(SLC25A13):c.755-7C>G
|
|
|
NM_014251.3(SLC25A13):c.765T>C (p.Val255=)
|
rs2116650187
|
|
NM_014251.3(SLC25A13):c.807T>G (p.Val269=)
|
rs934024804
|
|
NM_014251.3(SLC25A13):c.816G>A (p.Leu272=)
|
|
|
NM_014251.3(SLC25A13):c.81T>C (p.Ile27=)
|
|
|
NM_014251.3(SLC25A13):c.848+10C>G
|
|
|
NM_014251.3(SLC25A13):c.848+12T>C
|
|
|
NM_014251.3(SLC25A13):c.848+13T>C
|
|
|
NM_014251.3(SLC25A13):c.848+15T>C
|
|
|
NM_014251.3(SLC25A13):c.848+15T>G
|
rs779039067
|
|
NM_014251.3(SLC25A13):c.848+8G>A
|
rs761126981
|
|
NM_014251.3(SLC25A13):c.848+9G>A
|
rs201395793
|
|
NM_014251.3(SLC25A13):c.849-6C>T
|
|
|
NM_014251.3(SLC25A13):c.858C>T (p.Thr286=)
|
rs2116648520
|
|
NM_014251.3(SLC25A13):c.864A>G (p.Ala288=)
|
|
|
NM_014251.3(SLC25A13):c.873A>G (p.Glu291=)
|
rs1223728106
|
|
NM_014251.3(SLC25A13):c.874C>A (p.Arg292=)
|
|
|
NM_014251.3(SLC25A13):c.876G>T (p.Arg292=)
|
rs1794755283
|
|
NM_014251.3(SLC25A13):c.885T>A (p.Pro295=)
|
|
|
NM_014251.3(SLC25A13):c.885T>G (p.Pro295=)
|
|
|
NM_014251.3(SLC25A13):c.906C>A (p.Pro302=)
|
|
|
NM_014251.3(SLC25A13):c.930G>A (p.Arg310=)
|
|
|
NM_014251.3(SLC25A13):c.933+12G>A
|
|
|
NM_014251.3(SLC25A13):c.934-11A>C
|
|
|
NM_014251.3(SLC25A13):c.934-11A>G
|
|
|
NM_014251.3(SLC25A13):c.934-16T>C
|
|
|
NM_014251.3(SLC25A13):c.934-7A>G
|
|
|
NM_014251.3(SLC25A13):c.957A>G (p.Arg319=)
|
|
|
NM_014251.3(SLC25A13):c.963T>C (p.Val321=)
|
|
|
NM_014251.3(SLC25A13):c.978A>G (p.Ala326=)
|
rs776848302
|
|
NM_014251.3(SLC25A13):c.990C>T (p.Tyr330=)
|
rs534585904
|
|
NM_014251.3(SLC25A13):c.9C>T (p.Ala3=)
|
rs771172427
|
|
NM_014252.4(SLC25A15):c.105G>T (p.Val35=)
|
rs1206882399
|
|
NM_014252.4(SLC25A15):c.120C>T (p.Phe40=)
|
|
|
NM_014252.4(SLC25A15):c.123T>C (p.Pro41=)
|
|
|
NM_014252.4(SLC25A15):c.129G>A (p.Leu43=)
|
rs1881776190
|
|
NM_014252.4(SLC25A15):c.132C>T (p.Tyr44=)
|
rs2138045756
|
|
NM_014252.4(SLC25A15):c.135G>A (p.Arg45=)
|
rs2138045768
|
|
NM_014252.4(SLC25A15):c.138C>A (p.Gly46=)
|
rs560300254
|
|
NM_014252.4(SLC25A15):c.138C>T (p.Gly46=)
|
rs560300254
|
|
NM_014252.4(SLC25A15):c.154C>T (p.Leu52=)
|
|
|
NM_014252.4(SLC25A15):c.156G>A (p.Leu52=)
|
|
|
NM_014252.4(SLC25A15):c.192C>T (p.Tyr64=)
|
rs1008259618
|
|
NM_014252.4(SLC25A15):c.201C>A (p.Thr67=)
|
|
|
NM_014252.4(SLC25A15):c.207A>G (p.Pro69=)
|
|
|
NM_014252.4(SLC25A15):c.213A>G (p.Leu71=)
|
|
|
NM_014252.4(SLC25A15):c.216C>A (p.Ile72=)
|
rs572717478
|
|
NM_014252.4(SLC25A15):c.21C>T (p.Ile7=)
|
rs1360586910
|
|
NM_014252.4(SLC25A15):c.225C>A (p.Ile75=)
|
|
|
NM_014252.4(SLC25A15):c.228T>C (p.Ala76=)
|
rs1881786415
|
|
NM_014252.4(SLC25A15):c.231G>A (p.Glu77=)
|
|
|
NM_014252.4(SLC25A15):c.237A>C (p.Ser79=)
|
|
|
NM_014252.4(SLC25A15):c.237A>G (p.Ser79=)
|
rs2138045991
|
|
NM_014252.4(SLC25A15):c.243C>T (p.Leu81=)
|
rs1355172390
|
|
NM_014252.4(SLC25A15):c.246C>T (p.Phe82=)
|
rs2138046007
|
|
NM_014252.4(SLC25A15):c.258C>T (p.Gly86=)
|
|
|
NM_014252.4(SLC25A15):c.264C>T (p.Cys88=)
|
rs2138046037
|
|
NM_014252.4(SLC25A15):c.292T>C (p.Leu98=)
|
|
|
NM_014252.4(SLC25A15):c.294G>A (p.Leu98=)
|
|
|
NM_014252.4(SLC25A15):c.300G>A (p.Lys100=)
|
|
|
NM_014252.4(SLC25A15):c.303G>A (p.Gln101=)
|
|
|
NM_014252.4(SLC25A15):c.309_310delinsAT (p.Lys103_Leu104=)
|
rs2138046122
|
|
NM_014252.4(SLC25A15):c.310C>T (p.Leu104=)
|
|
|
NM_014252.4(SLC25A15):c.314+12AC[3]
|
|
|
NM_014252.4(SLC25A15):c.314+17C>A
|
rs1333416722
|
|
NM_014252.4(SLC25A15):c.314+18A>G
|
|
|
NM_014252.4(SLC25A15):c.314+19C>T
|
|
|
NM_014252.4(SLC25A15):c.314+19_314+20del
|
|
|
NM_014252.4(SLC25A15):c.314+24_314+26del
|
rs754389895
|
|
NM_014252.4(SLC25A15):c.315-12G>A
|
|
|
NM_014252.4(SLC25A15):c.315-12G>C
|
|
|
NM_014252.4(SLC25A15):c.315-12G>T
|
|
|
NM_014252.4(SLC25A15):c.315-14T>G
|
|
|
NM_014252.4(SLC25A15):c.315-17dup
|
|
|
NM_014252.4(SLC25A15):c.315-20G>C
|
|
|
NM_014252.4(SLC25A15):c.315-7C>T
|
rs2138053984
|
|
NM_014252.4(SLC25A15):c.315-8G>A
|
|
|
NM_014252.4(SLC25A15):c.321G>A (p.Leu107=)
|
rs750924937
|
|
NM_014252.4(SLC25A15):c.321G>T (p.Leu107=)
|
|
|
NM_014252.4(SLC25A15):c.339T>A (p.Gly113=)
|
|
|
NM_014252.4(SLC25A15):c.354C>A (p.Ala118=)
|
|
|
NM_014252.4(SLC25A15):c.354C>T (p.Ala118=)
|
rs775654159
|
|
NM_014252.4(SLC25A15):c.363A>C (p.Ala121=)
|
|
|
NM_014252.4(SLC25A15):c.363A>G (p.Ala121=)
|
rs1882121523
|
|
NM_014252.4(SLC25A15):c.364C>T (p.Leu122=)
|
|
|
NM_014252.4(SLC25A15):c.372C>T (p.Leu124=)
|
rs1305315510
|
|
NM_014252.4(SLC25A15):c.387C>G (p.Leu129=)
|
|
|
NM_014252.4(SLC25A15):c.387C>T (p.Leu129=)
|
rs151093794
|
|
NM_014252.4(SLC25A15):c.393G>A (p.Lys131=)
|
|
|
NM_014252.4(SLC25A15):c.423G>A (p.Glu141=)
|
|
|
NM_014252.4(SLC25A15):c.42A>C (p.Thr14=)
|
|
|
NM_014252.4(SLC25A15):c.452+19C>T
|
|
|
NM_014252.4(SLC25A15):c.452+7A>G
|
rs2138054291
|
|
NM_014252.4(SLC25A15):c.452+9C>T
|
|
|
NM_014252.4(SLC25A15):c.453-12_453-11del
|
|
|
NM_014252.4(SLC25A15):c.453-14G>C
|
|
|
NM_014252.4(SLC25A15):c.453-16C>T
|
|
|
NM_014252.4(SLC25A15):c.453-19T>C
|
|
|
NM_014252.4(SLC25A15):c.453-7C>T
|
rs2138056608
|
|
NM_014252.4(SLC25A15):c.45G>A (p.Ala15=)
|
rs200958757
|
|
NM_014252.4(SLC25A15):c.489A>G (p.Lys163=)
|
|
|
NM_014252.4(SLC25A15):c.495C>A (p.Gly165=)
|
rs2138056684
|
|
NM_014252.4(SLC25A15):c.504G>T (p.Gly168=)
|
rs770229041
|
|
NM_014252.4(SLC25A15):c.507C>T (p.Phe169=)
|
|
|
NM_014252.4(SLC25A15):c.519C>T (p.Leu173=)
|
|
|
NM_014252.4(SLC25A15):c.55+11G>C
|
|
|
NM_014252.4(SLC25A15):c.55+15C>T
|
|
|
NM_014252.4(SLC25A15):c.55+17C>T
|
|
|
NM_014252.4(SLC25A15):c.55+18A>C
|
|
|
NM_014252.4(SLC25A15):c.55+6_55+9dup
|
rs2138039659
|
|
NM_014252.4(SLC25A15):c.55+8C>T
|
rs1280804783
|
|
NM_014252.4(SLC25A15):c.558C>T (p.Phe186=)
|
|
|
NM_014252.4(SLC25A15):c.56-13G>T
|
|
|
NM_014252.4(SLC25A15):c.56-16T>C
|
|
|
NM_014252.4(SLC25A15):c.56-17A>G
|
|
|
NM_014252.4(SLC25A15):c.56-6T>C
|
|
|
NM_014252.4(SLC25A15):c.56-8G>A
|
rs2138045584
|
|
NM_014252.4(SLC25A15):c.56-9T>C
|
|
|
NM_014252.4(SLC25A15):c.579G>C (p.Leu193=)
|
rs2138056841
|
|
NM_014252.4(SLC25A15):c.585G>A (p.Arg195=)
|
|
|
NM_014252.4(SLC25A15):c.588C>T (p.Ser196=)
|
rs2138056870
|
|
NM_014252.4(SLC25A15):c.597A>G (p.Ala199=)
|
rs1001813690
|
|
NM_014252.4(SLC25A15):c.622+20C>T
|
|
|
NM_014252.4(SLC25A15):c.622+24_622+25insCATTTGCATTGACAGCA
|
|
|
NM_014252.4(SLC25A15):c.622+9G>A
|
rs2138056932
|
|
NM_014252.4(SLC25A15):c.623-13T>C
|
|
|
NM_014252.4(SLC25A15):c.623-16T>C
|
|
|
NM_014252.4(SLC25A15):c.623-17A>T
|
rs191780003
|
|
NM_014252.4(SLC25A15):c.623-18_623-17insG
|
rs1212518673
|
|
NM_014252.4(SLC25A15):c.623-5T>C
|
|
|
NM_014252.4(SLC25A15):c.623-5del
|
|
|
NM_014252.4(SLC25A15):c.623-9T>C
|
|
|
NM_014252.4(SLC25A15):c.624C>A (p.Gly208=)
|
|
|
NM_014252.4(SLC25A15):c.624C>T (p.Gly208=)
|
|
|
NM_014252.4(SLC25A15):c.627T>C (p.Pro209=)
|
rs1882286895
|
|
NM_014252.4(SLC25A15):c.633T>G (p.Pro211=)
|
|
|
NM_014252.4(SLC25A15):c.657T>A (p.Gly219=)
|
|
|
NM_014252.4(SLC25A15):c.678G>C (p.Ala226=)
|
rs183697658
|
|
NM_014252.4(SLC25A15):c.681A>G (p.Val227=)
|
rs767671614
|
|
NM_014252.4(SLC25A15):c.693T>C (p.Asp231=)
|
|
|
NM_014252.4(SLC25A15):c.699C>T (p.Ile233=)
|
|
|
NM_014252.4(SLC25A15):c.69T>C (p.Cys23=)
|
rs2138045632
|
|
NM_014252.4(SLC25A15):c.714A>G (p.Gln238=)
|
|
|
NM_014252.4(SLC25A15):c.723C>T (p.Ser241=)
|
|
|
NM_014252.4(SLC25A15):c.72A>T (p.Val24=)
|
rs1392943139
|
|
NM_014252.4(SLC25A15):c.73C>T (p.Leu25=)
|
|
|
NM_014252.4(SLC25A15):c.75G>C (p.Leu25=)
|
rs2138045646
|
|
NM_014252.4(SLC25A15):c.760A>C (p.Ile254Leu)
|
rs17849654
|
|
NM_014252.4(SLC25A15):c.781+12C>T
|
|
|
NM_014252.4(SLC25A15):c.781+15G>A
|
|
|
NM_014252.4(SLC25A15):c.781+9dup
|
rs2138058178
|
|
NM_014252.4(SLC25A15):c.782-10T>G
|
rs2138059526
|
|
NM_014252.4(SLC25A15):c.782-18C>G
|
|
|
NM_014252.4(SLC25A15):c.782-19C>T
|
|
|
NM_014252.4(SLC25A15):c.782-20A>G
|
|
|
NM_014252.4(SLC25A15):c.782-6del
|
|
|
NM_014252.4(SLC25A15):c.789G>T (p.Thr263=)
|
rs144478411
|
|
NM_014252.4(SLC25A15):c.792C>G (p.Ala264=)
|
rs768406331
|
|
NM_014252.4(SLC25A15):c.804A>G (p.Gly268=)
|
rs2138059571
|
|
NM_014252.4(SLC25A15):c.831C>T (p.Phe277=)
|
rs2138059638
|
|
NM_014252.4(SLC25A15):c.843A>T (p.Gly281=)
|
rs199850093
|
|
NM_014252.4(SLC25A15):c.855G>A (p.Leu285=)
|
|
|
NM_014252.4(SLC25A15):c.888C>T (p.Asn296=)
|
rs2138059719
|
|
NM_014252.4(SLC25A15):c.891G>A (p.Gln297=)
|
|
|
NM_014252.4(SLC25A15):c.900A>T (p.Ala300=)
|
|
|
NM_014252.4(SLC25A15):c.905G>A (p.Ter302=)
|
rs2138059746
|
|
NM_014252.4(SLC25A15):c.93C>T (p.Asp31=)
|
|
|
NM_014362.4(HIBCH):c.1011+10dup
|
|
|
NM_014362.4(HIBCH):c.1012-16C>G
|
|
|
NM_014362.4(HIBCH):c.1012-19A>T
|
|
|
NM_014362.4(HIBCH):c.1048T>C (p.Leu350=)
|
rs1575690645
|
|
NM_014362.4(HIBCH):c.1149T>C (p.Asp383=)
|
|
|
NM_014362.4(HIBCH):c.150A>G (p.Thr50=)
|
|
|
NM_014362.4(HIBCH):c.219+16A>G
|
rs2105992508
|
|
NM_014362.4(HIBCH):c.304+9T>G
|
|
|
NM_014362.4(HIBCH):c.305-5C>T
|
|
|
NM_014362.4(HIBCH):c.517+16T>C
|
|
|
NM_014362.4(HIBCH):c.518-12A>G
|
|
|
NM_014362.4(HIBCH):c.60T>C (p.Asn20=)
|
|
|
NM_014362.4(HIBCH):c.663+13A>G
|
|
|
NM_014362.4(HIBCH):c.663+14T>G
|
|
|
NM_014362.4(HIBCH):c.664-18T>C
|
|
|
NM_014362.4(HIBCH):c.78+17G>A
|
|
|
NM_014362.4(HIBCH):c.783T>G (p.Leu261=)
|
rs2105934861
|
|
NM_014362.4(HIBCH):c.79-4A>T
|
|
|
NM_014362.4(HIBCH):c.79-9T>C
|
|
|
NM_014362.4(HIBCH):c.798C>T (p.Asp266=)
|
rs2105934821
|
|
NM_014362.4(HIBCH):c.809+19C>T
|
rs1249772787
|
|
NM_014362.4(HIBCH):c.810-4A>G
|
|
|
NM_014362.4(HIBCH):c.831G>A (p.Val277=)
|
|
|
NM_014362.4(HIBCH):c.891+16T>C
|
|
|
NM_014362.4(HIBCH):c.891+18T>C
|
rs959638999
|
|
NM_014362.4(HIBCH):c.951G>T (p.Gly317=)
|
|
|
NM_014362.4(HIBCH):c.963C>G (p.Thr321=)
|
|
|
NM_014384.3(ACAD8):c.1119C>T (p.His373=)
|
|
|
NM_014384.3(ACAD8):c.1146C>T (p.Tyr382=)
|
|
|
NM_014384.3(ACAD8):c.1161C>T (p.Tyr387=)
|
|
|
NM_014384.3(ACAD8):c.1195+10G>A
|
|
|
NM_014384.3(ACAD8):c.1195+7_1195+8delinsTA
|
rs2136084544
|
|
NM_014384.3(ACAD8):c.1196-9C>G
|
|
|
NM_014384.3(ACAD8):c.12C>T (p.Ser4=)
|
|
|
NM_014384.3(ACAD8):c.198G>A (p.Glu66=)
|
|
|
NM_014384.3(ACAD8):c.210+7G>A
|
|
|
NM_014384.3(ACAD8):c.243A>C (p.Ala81=)
|
rs1591506881
|
|
NM_014384.3(ACAD8):c.27C>T (p.Phe9=)
|
rs2136068044
|
|
NM_014384.3(ACAD8):c.285G>A (p.Val95=)
|
|
|
NM_014384.3(ACAD8):c.380+7G>T
|
rs1335335796
|
|
NM_014384.3(ACAD8):c.441A>G (p.Pro147=)
|
|
|
NM_014384.3(ACAD8):c.621A>G (p.Thr207=)
|
rs1315587870
|
|
NM_014384.3(ACAD8):c.804T>C (p.Ile268=)
|
rs757519037
|
|
NM_014384.3(ACAD8):c.822C>T (p.Asn274=)
|
|
|
NM_014384.3(ACAD8):c.842-19C>T
|
|
|
NM_014384.3(ACAD8):c.909G>A (p.Lys303=)
|
rs2136082667
|
|
NM_014384.3(ACAD8):c.951C>T (p.Phe317=)
|
|
|
NM_015506.3(MMACHC):c.120C>T (p.His40=)
|
|
|
NM_015506.3(MMACHC):c.129G>A (p.Leu43=)
|
|
|
NM_015506.3(MMACHC):c.141C>G (p.Thr47=)
|
rs936938761
|
|
NM_015506.3(MMACHC):c.147C>T (p.Ala49=)
|
rs1570829648
|
|
NM_015506.3(MMACHC):c.153G>A (p.Leu51=)
|
|
|
NM_015506.3(MMACHC):c.15C>T (p.Val5=)
|
rs902026116
|
|
NM_015506.3(MMACHC):c.162C>T (p.Ser54=)
|
|
|
NM_015506.3(MMACHC):c.165G>T (p.Thr55=)
|
|
|
NM_015506.3(MMACHC):c.189C>T (p.Leu63=)
|
|
|
NM_015506.3(MMACHC):c.210C>T (p.Cys70=)
|
rs2149323253
|
|
NM_015506.3(MMACHC):c.231C>T (p.Asp77=)
|
rs2149323265
|
|
NM_015506.3(MMACHC):c.234A>C (p.Pro78=)
|
|
|
NM_015506.3(MMACHC):c.255C>T (p.Tyr85=)
|
rs2149323280
|
|
NM_015506.3(MMACHC):c.259C>T (p.Leu87=)
|
rs776402014
|
|
NM_015506.3(MMACHC):c.264C>T (p.Gly88=)
|
|
|
NM_015506.3(MMACHC):c.270T>G (p.Val90=)
|
rs2149323292
|
|
NM_015506.3(MMACHC):c.273A>G (p.Arg91=)
|
|
|
NM_015506.3(MMACHC):c.276+13C>G
|
rs543041810
|
|
NM_015506.3(MMACHC):c.276+13C>T
|
|
|
NM_015506.3(MMACHC):c.276+13_276+14del
|
|
|
NM_015506.3(MMACHC):c.276+17T>C
|
|
|
NM_015506.3(MMACHC):c.276+20C>T
|
|
|
NM_015506.3(MMACHC):c.276+8A>G
|
|
|
NM_015506.3(MMACHC):c.276+9G>A
|
|
|
NM_015506.3(MMACHC):c.277-10A>C
|
|
|
NM_015506.3(MMACHC):c.277-13T>C
|
|
|
NM_015506.3(MMACHC):c.277-14G>A
|
|
|
NM_015506.3(MMACHC):c.277-15T>G
|
|
|
NM_015506.3(MMACHC):c.277-17_277-16insA
|
|
|
NM_015506.3(MMACHC):c.277-20T>C
|
|
|
NM_015506.3(MMACHC):c.277-4C>A
|
rs199889403
|
|
NM_015506.3(MMACHC):c.277-4C>T
|
|
|
NM_015506.3(MMACHC):c.277-6T>C
|
|
|
NM_015506.3(MMACHC):c.277-7G>A
|
rs1258697986
|
|
NM_015506.3(MMACHC):c.277-8_277-3dup
|
rs756072947
|
|
NM_015506.3(MMACHC):c.277-9C>T
|
|
|
NM_015506.3(MMACHC):c.27G>A (p.Lys9=)
|
|
|
NM_015506.3(MMACHC):c.288G>A (p.Glu96=)
|
rs1643664191
|
|
NM_015506.3(MMACHC):c.291G>A (p.Leu97=)
|
rs566356386
|
|
NM_015506.3(MMACHC):c.297A>C (p.Ile99=)
|
|
|
NM_015506.3(MMACHC):c.30G>A (p.Gln10=)
|
|
|
NM_015506.3(MMACHC):c.312C>T (p.Asp104=)
|
|
|
NM_015506.3(MMACHC):c.318G>A (p.Glu106=)
|
|
|
NM_015506.3(MMACHC):c.339C>G (p.Pro113=)
|
rs2149323560
|
|
NM_015506.3(MMACHC):c.33G>A (p.Lys11=)
|
rs770446383
|
|
NM_015506.3(MMACHC):c.360A>C (p.Ala120=)
|
|
|
NM_015506.3(MMACHC):c.366T>C (p.His122=)
|
rs1643666556
|
|
NM_015506.3(MMACHC):c.369A>T (p.Val123=)
|
rs1643666589
|
|
NM_015506.3(MMACHC):c.36C>T (p.Ile12=)
|
|
|
NM_015506.3(MMACHC):c.372T>C (p.Ala124=)
|
|
|
NM_015506.3(MMACHC):c.375G>C (p.Gly125=)
|
|
|
NM_015506.3(MMACHC):c.375G>T (p.Gly125=)
|
|
|
NM_015506.3(MMACHC):c.405G>A (p.Val135=)
|
|
|
NM_015506.3(MMACHC):c.423G>T (p.Gly141=)
|
|
|
NM_015506.3(MMACHC):c.429+12A>C
|
|
|
NM_015506.3(MMACHC):c.429+14T>A
|
|
|
NM_015506.3(MMACHC):c.429+14T>C
|
|
|
NM_015506.3(MMACHC):c.429+18_429+21del
|
|
|
NM_015506.3(MMACHC):c.429+20T>C
|
|
|
NM_015506.3(MMACHC):c.429+20T>G
|
|
|
NM_015506.3(MMACHC):c.429+7G>A
|
rs1227206156
|
|
NM_015506.3(MMACHC):c.429+7_429+31del
|
rs2149323628
|
|
NM_015506.3(MMACHC):c.429+9G>C
|
|
|
NM_015506.3(MMACHC):c.430-10C>A
|
|
|
NM_015506.3(MMACHC):c.430-10C>T
|
rs550692873
|
|
NM_015506.3(MMACHC):c.430-11C>T
|
|
|
NM_015506.3(MMACHC):c.430-12C>T
|
|
|
NM_015506.3(MMACHC):c.430-13A>T
|
|
|
NM_015506.3(MMACHC):c.430-16T>C
|
|
|
NM_015506.3(MMACHC):c.430-8C>T
|
rs1217401490
|
|
NM_015506.3(MMACHC):c.432C>T (p.Arg144=)
|
|
|
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.438A>G (p.Ser146=)
|
|
|
NM_015506.3(MMACHC):c.441T>A (p.Gly147=)
|
|
|
NM_015506.3(MMACHC):c.441T>C (p.Gly147=)
|
|
|
NM_015506.3(MMACHC):c.441T>G (p.Gly147=)
|
|
|
NM_015506.3(MMACHC):c.45G>A (p.Thr15=)
|
rs750623781
|
|
NM_015506.3(MMACHC):c.45G>C (p.Thr15=)
|
|
|
NM_015506.3(MMACHC):c.46C>T (p.Leu16=)
|
|
|
NM_015506.3(MMACHC):c.481C>A (p.Arg161=)
|
rs370596113
|
|
NM_015506.3(MMACHC):c.486G>A (p.Gly162=)
|
|
|
NM_015506.3(MMACHC):c.495G>C (p.Leu165=)
|
rs761111018
|
|
NM_015506.3(MMACHC):c.498G>A (p.Leu166=)
|
|
|
NM_015506.3(MMACHC):c.501A>C (p.Pro167=)
|
rs1366306237
|
|
NM_015506.3(MMACHC):c.501A>G (p.Pro167=)
|
rs1366306237
|
|
NM_015506.3(MMACHC):c.546T>C (p.Cys182=)
|
rs2149323890
|
|
NM_015506.3(MMACHC):c.549A>C (p.Val183=)
|
|
|
NM_015506.3(MMACHC):c.54T>A (p.Pro18=)
|
|
|
NM_015506.3(MMACHC):c.54T>C (p.Pro18=)
|
|
|
NM_015506.3(MMACHC):c.564C>T (p.Asp188=)
|
rs1397062260
|
|
NM_015506.3(MMACHC):c.573C>T (p.Ala191=)
|
rs750572915
|
|
NM_015506.3(MMACHC):c.579C>G (p.Leu193=)
|
rs766342926
|
|
NM_015506.3(MMACHC):c.579C>T (p.Leu193=)
|
|
|
NM_015506.3(MMACHC):c.588C>T (p.Phe196=)
|
|
|
NM_015506.3(MMACHC):c.591T>C (p.Asn197=)
|
|
|
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)
|
rs398124294
|
|
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.618G>A (p.Arg206=)
|
|
|
NM_015506.3(MMACHC):c.627G>A (p.Val209=)
|
|
|
NM_015506.3(MMACHC):c.627G>C (p.Val209=)
|
rs1327886469
|
|
NM_015506.3(MMACHC):c.630A>C (p.Thr210=)
|
|
|
NM_015506.3(MMACHC):c.63C>T (p.Phe21=)
|
rs2149320920
|
|
NM_015506.3(MMACHC):c.642C>A (p.Arg214=)
|
|
|
NM_015506.3(MMACHC):c.651A>G (p.Glu217=)
|
rs948189041
|
|
NM_015506.3(MMACHC):c.663C>A (p.Ala221=)
|
|
|
NM_015506.3(MMACHC):c.663C>T (p.Ala221=)
|
|
|
NM_015506.3(MMACHC):c.676C>G (p.Pro226Ala)
|
rs781527733
|
|
NM_015506.3(MMACHC):c.678A>C (p.Pro226=)
|
|
|
NM_015506.3(MMACHC):c.678A>G (p.Pro226=)
|
rs2149324023
|
|
NM_015506.3(MMACHC):c.684C>T (p.Ala228=)
|
|
|
NM_015506.3(MMACHC):c.696C>G (p.Ala232=)
|
rs767496391
|
|
NM_015506.3(MMACHC):c.708G>A (p.Leu236=)
|
|
|
NM_015506.3(MMACHC):c.720A>G (p.Ser240=)
|
rs764969563
|
|
NM_015506.3(MMACHC):c.729T>C (p.Pro243=)
|
rs891106099
|
|
NM_015506.3(MMACHC):c.729T>G (p.Pro243=)
|
rs891106099
|
|
NM_015506.3(MMACHC):c.732T>C (p.Ser244=)
|
rs1173232857
|
|
NM_015506.3(MMACHC):c.738C>A (p.Pro246=)
|
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
NM_015506.3(MMACHC):c.753C>A (p.Pro251=)
|
rs1643688309
|
|
NM_015506.3(MMACHC):c.753C>T (p.Pro251=)
|
rs1643688309
|
|
NM_015506.3(MMACHC):c.75C>T (p.Pro25=)
|
|
|
NM_015506.3(MMACHC):c.762A>C (p.Thr254=)
|
|
|
NM_015506.3(MMACHC):c.762A>G (p.Thr254=)
|
rs771203889
|
|
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
NM_015506.3(MMACHC):c.771C>T (p.Pro257=)
|
|
|
NM_015506.3(MMACHC):c.789C>T (p.Pro263=)
|
|
|
NM_015506.3(MMACHC):c.78C>T (p.Phe26=)
|
rs770431439
|
|
NM_015506.3(MMACHC):c.801G>A (p.Arg267=)
|
rs751017212
|
|
NM_015506.3(MMACHC):c.81+10T>G
|
rs2149320953
|
|
NM_015506.3(MMACHC):c.81+11C>A
|
|
|
NM_015506.3(MMACHC):c.81+13C>G
|
|
|
NM_015506.3(MMACHC):c.81+13C>T
|
|
|
NM_015506.3(MMACHC):c.81+15C>T
|
|
|
NM_015506.3(MMACHC):c.81+17T>C
|
|
|
NM_015506.3(MMACHC):c.810_811inv (p.Ser271Gly)
|
|
|
NM_015506.3(MMACHC):c.813C>T (p.Ser271=)
|
rs1311947307
|
|
NM_015506.3(MMACHC):c.816C>A (p.Pro272=)
|
rs754568180
|
|
NM_015506.3(MMACHC):c.82-16G>C
|
|
|
NM_015506.3(MMACHC):c.82-17T>C
|
|
|
NM_015506.3(MMACHC):c.82-18C>T
|
|
|
NM_015506.3(MMACHC):c.82-7G>A
|
|
|
NM_015506.3(MMACHC):c.82-8T>C
|
|
|
NM_015506.3(MMACHC):c.822C>A (p.Val274=)
|
rs746114287
|
|
NM_015506.3(MMACHC):c.822C>G (p.Val274=)
|
rs746114287
|
|
NM_015506.3(MMACHC):c.828A>C (p.Pro276=)
|
rs1288893138
|
|
NM_015506.3(MMACHC):c.846T>C (p.Pro282=)
|
|
|
NM_015506.3(MMACHC):c.848G>A (p.Ter283=)
|
|
|
NM_015506.3(MMACHC):c.9G>A (p.Pro3=)
|
|
|
NM_015509.4(NECAP1):c.117C>T (p.Asp39=)
|
|
|
NM_015509.4(NECAP1):c.126T>C (p.Asp42=)
|
rs970227105
|
|
NM_015509.4(NECAP1):c.12G>A (p.Glu4=)
|
|
|
NM_015509.4(NECAP1):c.18G>A (p.Glu6=)
|
rs780652766
|
|
NM_015509.4(NECAP1):c.196+12G>C
|
rs371530521
|
|
NM_015509.4(NECAP1):c.196+20C>G
|
rs2120476352
|
|
NM_015509.4(NECAP1):c.197-16T>C
|
|
|
NM_015509.4(NECAP1):c.197-19T>C
|
|
|
NM_015509.4(NECAP1):c.197-5G>C
|
|
|
NM_015509.4(NECAP1):c.197-8T>C
|
rs757344160
|
|
NM_015509.4(NECAP1):c.210T>C (p.Ala70=)
|
|
|
NM_015509.4(NECAP1):c.21C>T (p.Tyr7=)
|
|
|
NM_015509.4(NECAP1):c.228A>G (p.Gln76=)
|
|
|
NM_015509.4(NECAP1):c.301+13G>A
|
|
|
NM_015509.4(NECAP1):c.302-11G>A
|
rs765403528
|
|
NM_015509.4(NECAP1):c.302-11G>T
|
rs765403528
|
|
NM_015509.4(NECAP1):c.302-5C>T
|
|
|
NM_015509.4(NECAP1):c.30G>A (p.Val10=)
|
|
|
NM_015509.4(NECAP1):c.315C>T (p.Phe105=)
|
rs2120482419
|
|
NM_015509.4(NECAP1):c.351C>T (p.Phe117=)
|
|
|
NM_015509.4(NECAP1):c.372G>A (p.Gln124=)
|
rs2120482694
|
|
NM_015509.4(NECAP1):c.383+11dup
|
rs2120482806
|
|
NM_015509.4(NECAP1):c.383+13T>A
|
|
|
NM_015509.4(NECAP1):c.383+13del
|
|
|
NM_015509.4(NECAP1):c.383+15T>C
|
|
|
NM_015509.4(NECAP1):c.384-12G>A
|
|
|
NM_015509.4(NECAP1):c.384-15G>A
|
|
|
NM_015509.4(NECAP1):c.393G>A (p.Lys131=)
|
|
|
NM_015509.4(NECAP1):c.492+15T>C
|
rs2120485872
|
|
NM_015509.4(NECAP1):c.492+18A>T
|
rs2120485883
|
|
NM_015509.4(NECAP1):c.51C>T (p.Val17=)
|
|
|
NM_015509.4(NECAP1):c.531G>A (p.Arg177=)
|
|
|
NM_015509.4(NECAP1):c.555C>T (p.Ser185=)
|
|
|
NM_015509.4(NECAP1):c.570G>A (p.Pro190=)
|
rs148192941
|
|
NM_015509.4(NECAP1):c.570G>T (p.Pro190=)
|
rs148192941
|
|
NM_015509.4(NECAP1):c.573A>G (p.Pro191=)
|
|
|
NM_015509.4(NECAP1):c.579C>A (p.Gly193=)
|
|
|
NM_015509.4(NECAP1):c.594C>T (p.Pro198=)
|
rs1947563520
|
|
NM_015509.4(NECAP1):c.648G>T (p.Pro216=)
|
rs370869772
|
|
NM_015509.4(NECAP1):c.676+10G>A
|
|
|
NM_015509.4(NECAP1):c.676+18A>G
|
rs1947564278
|
|
NM_015509.4(NECAP1):c.677-12C>T
|
|
|
NM_015509.4(NECAP1):c.681C>A (p.Ile227=)
|
|
|
NM_015509.4(NECAP1):c.709G>C (p.Val237Leu)
|
rs752918460
|
|
NM_015509.4(NECAP1):c.779+19C>T
|
|
|
NM_015509.4(NECAP1):c.780-12_780-10del
|
|
|
NM_015509.4(NECAP1):c.810C>T (p.Ser270=)
|
|
|
NM_015509.4(NECAP1):c.81C>T (p.Ser27=)
|
|
|
NM_015509.4(NECAP1):c.93C>T (p.Tyr31=)
|
rs2120448200
|
|
NM_015509.4(NECAP1):c.95+10C>G
|
|
|
NM_015509.4(NECAP1):c.96-15C>T
|
|
|
NM_015662.3(IFT172):c.1005+18C>T
|
|
|
NM_015662.3(IFT172):c.1006-14T>A
|
|
|
NM_015662.3(IFT172):c.1006-16C>A
|
|
|
NM_015662.3(IFT172):c.1006-16C>T
|
|
|
NM_015662.3(IFT172):c.1006-19dup
|
rs1455103617
|
|
NM_015662.3(IFT172):c.1011T>C (p.Ile337=)
|
rs2148544369
|
|
NM_015662.3(IFT172):c.1021C>T (p.Leu341=)
|
|
|
NM_015662.3(IFT172):c.1023G>C (p.Leu341=)
|
|
|
NM_015662.3(IFT172):c.1044G>A (p.Val348=)
|
|
|
NM_015662.3(IFT172):c.1050G>A (p.Lys350=)
|
|
|
NM_015662.3(IFT172):c.1053A>G (p.Ser351=)
|
|
|
NM_015662.3(IFT172):c.1071G>A (p.Val357=)
|
|
|
NM_015662.3(IFT172):c.1104C>T (p.Tyr368=)
|
|
|
NM_015662.3(IFT172):c.1140G>A (p.Gly380=)
|
|
|
NM_015662.3(IFT172):c.1144C>T (p.Leu382=)
|
|
|
NM_015662.3(IFT172):c.1158G>C (p.Arg386=)
|
|
|
NM_015662.3(IFT172):c.1167+17A>T
|
|
|
NM_015662.3(IFT172):c.1167+18G>A
|
|
|
NM_015662.3(IFT172):c.1167+20G>A
|
rs2148543898
|
|
NM_015662.3(IFT172):c.1168-12C>T
|
|
|
NM_015662.3(IFT172):c.1168-15C>T
|
rs1668059914
|
|
NM_015662.3(IFT172):c.1168-16T>C
|
|
|
NM_015662.3(IFT172):c.1168-17G>A
|
|
|
NM_015662.3(IFT172):c.1168-8C>T
|
|
|
NM_015662.3(IFT172):c.117G>A (p.Val39=)
|
|
|
NM_015662.3(IFT172):c.1197G>A (p.Glu399=)
|
rs2148543008
|
|
NM_015662.3(IFT172):c.1222-15C>T
|
|
|
NM_015662.3(IFT172):c.1222-9T>G
|
|
|
NM_015662.3(IFT172):c.1227C>T (p.Cys409=)
|
rs973370518
|
|
NM_015662.3(IFT172):c.1254C>G (p.Thr418=)
|
rs1468553045
|
|
NM_015662.3(IFT172):c.126G>A (p.Leu42=)
|
rs2148559862
|
|
NM_015662.3(IFT172):c.1281C>T (p.Thr427=)
|
|
|
NM_015662.3(IFT172):c.1311C>T (p.Asn437=)
|
|
|
NM_015662.3(IFT172):c.1325+14A>T
|
|
|
NM_015662.3(IFT172):c.1326-10C>A
|
|
|
NM_015662.3(IFT172):c.1326-8T>C
|
|
|
NM_015662.3(IFT172):c.1368T>C (p.Asn456=)
|
|
|
NM_015662.3(IFT172):c.1380T>G (p.Ala460=)
|
rs1465089677
|
|
NM_015662.3(IFT172):c.1383T>C (p.Tyr461=)
|
rs201572769
|
|
NM_015662.3(IFT172):c.1411+7A>G
|
|
|
NM_015662.3(IFT172):c.1411+8A>C
|
|
|
NM_015662.3(IFT172):c.1412-14C>T
|
|
|
NM_015662.3(IFT172):c.1412-16C>T
|
|
|
NM_015662.3(IFT172):c.1412-20C>G
|
rs1487705973
|
|
NM_015662.3(IFT172):c.1419G>A (p.Leu473=)
|
|
|
NM_015662.3(IFT172):c.1443C>G (p.Thr481=)
|
rs780600337
|
|
NM_015662.3(IFT172):c.1485G>A (p.Glu495=)
|
|
|
NM_015662.3(IFT172):c.1488T>C (p.Thr496=)
|
rs1369233091
|
|
NM_015662.3(IFT172):c.1503C>T (p.Leu501=)
|
rs1667628081
|
|
NM_015662.3(IFT172):c.1521T>C (p.Leu507=)
|
|
|
NM_015662.3(IFT172):c.1524+10G>A
|
|
|
NM_015662.3(IFT172):c.1524+11C>A
|
rs2148531337
|
|
NM_015662.3(IFT172):c.1524+19G>T
|
rs1667624184
|
|
NM_015662.3(IFT172):c.1525-6C>G
|
rs201231401
|
|
NM_015662.3(IFT172):c.1590G>A (p.Gln530=)
|
rs770918577
|
|
NM_015662.3(IFT172):c.1614G>A (p.Leu538=)
|
|
|
NM_015662.3(IFT172):c.1674C>G (p.Val558=)
|
rs1455569315
|
|
NM_015662.3(IFT172):c.1692+12A>T
|
|
|
NM_015662.3(IFT172):c.1692+18G>A
|
|
|
NM_015662.3(IFT172):c.1692+9G>A
|
|
|
NM_015662.3(IFT172):c.1693-7T>A
|
|
|
NM_015662.3(IFT172):c.1693-8T>A
|
rs1192375297
|
|
NM_015662.3(IFT172):c.1693-9C>A
|
|
|
NM_015662.3(IFT172):c.1710G>A (p.Leu570=)
|
rs2148516446
|
|
NM_015662.3(IFT172):c.1722G>C (p.Gly574=)
|
|
|
NM_015662.3(IFT172):c.1731C>T (p.Thr577=)
|
rs369849820
|
|
NM_015662.3(IFT172):c.1743G>A (p.Val581=)
|
|
|
NM_015662.3(IFT172):c.1767C>T (p.Ala589=)
|
|
|
NM_015662.3(IFT172):c.177C>T (p.Asp59=)
|
|
|
NM_015662.3(IFT172):c.1797T>C (p.Phe599=)
|
|
|
NM_015662.3(IFT172):c.1809T>C (p.Ile603=)
|
|
|
NM_015662.3(IFT172):c.1829+7G>A
|
|
|
NM_015662.3(IFT172):c.183+13T>C
|
|
|
NM_015662.3(IFT172):c.1830-13C>T
|
rs1667020853
|
|
NM_015662.3(IFT172):c.1830-6T>G
|
rs758128239
|
|
NM_015662.3(IFT172):c.1830-8C>T
|
|
|
NM_015662.3(IFT172):c.184-8del
|
|
|
NM_015662.3(IFT172):c.18G>A (p.Leu6=)
|
|
|
NM_015662.3(IFT172):c.1905A>G (p.Ala635=)
|
rs2148515325
|
|
NM_015662.3(IFT172):c.1926C>T (p.His642=)
|
|
|
NM_015662.3(IFT172):c.1938-15G>A
|
|
|
NM_015662.3(IFT172):c.1938-17T>C
|
|
|
NM_015662.3(IFT172):c.1980G>T (p.Leu660=)
|
|
|
NM_015662.3(IFT172):c.2023-20A>G
|
|
|
NM_015662.3(IFT172):c.2023-5C>G
|
|
|
NM_015662.3(IFT172):c.2023-9_2023-8insAA
|
|
|
NM_015662.3(IFT172):c.2062C>T (p.Leu688=)
|
|
|
NM_015662.3(IFT172):c.2094T>C (p.Ala698=)
|
|
|
NM_015662.3(IFT172):c.2112A>G (p.Glu704=)
|
|
|
NM_015662.3(IFT172):c.2115+12A>G
|
|
|
NM_015662.3(IFT172):c.2116-11G>C
|
|
|
NM_015662.3(IFT172):c.2116-11G>T
|
|
|
NM_015662.3(IFT172):c.2116-5C>G
|
|
|
NM_015662.3(IFT172):c.2116-5C>T
|
rs754154643
|
|
NM_015662.3(IFT172):c.2116-7C>T
|
|
|
NM_015662.3(IFT172):c.2130G>A (p.Glu710=)
|
|
|
NM_015662.3(IFT172):c.2145C>T (p.Tyr715=)
|
|
|
NM_015662.3(IFT172):c.2166T>C (p.Asp722=)
|
|
|
NM_015662.3(IFT172):c.2169G>A (p.Glu723=)
|
|
|
NM_015662.3(IFT172):c.2172T>C (p.Cys724=)
|
|
|
NM_015662.3(IFT172):c.2178T>C (p.Ala726=)
|
rs2148507415
|
|
NM_015662.3(IFT172):c.2190C>T (p.Ala730=)
|
rs781352681
|
|
NM_015662.3(IFT172):c.2193+13T>C
|
rs947674391
|
|
NM_015662.3(IFT172):c.2193+14C>A
|
rs1666690784
|
|
NM_015662.3(IFT172):c.2193+16T>C
|
|
|
NM_015662.3(IFT172):c.2193+16_2193+18del
|
rs1215056367
|
|
NM_015662.3(IFT172):c.2193+18T>C
|
|
|
NM_015662.3(IFT172):c.2194-10G>T
|
rs1666669350
|
|
NM_015662.3(IFT172):c.2194-15T>G
|
rs1666669871
|
|
NM_015662.3(IFT172):c.2194-6G>T
|
|
|
NM_015662.3(IFT172):c.2194-8A>G
|
|
|
NM_015662.3(IFT172):c.2194-9C>A
|
|
|
NM_015662.3(IFT172):c.2199C>T (p.His733=)
|
rs146482086
|
|
NM_015662.3(IFT172):c.219T>A (p.Ala73=)
|
rs2148559300
|
|
NM_015662.3(IFT172):c.2214G>A (p.Lys738=)
|
|
|
NM_015662.3(IFT172):c.2232C>T (p.Tyr744=)
|
|
|
NM_015662.3(IFT172):c.2277A>G (p.Leu759=)
|
rs2148506541
|
|
NM_015662.3(IFT172):c.2299C>T (p.Leu767=)
|
rs1666656398
|
|
NM_015662.3(IFT172):c.2403C>T (p.His801=)
|
|
|
NM_015662.3(IFT172):c.2430A>G (p.Glu810=)
|
|
|
NM_015662.3(IFT172):c.2442+14C>T
|
|
|
NM_015662.3(IFT172):c.2442+9G>C
|
rs771351250
|
|
NM_015662.3(IFT172):c.2443-14G>T
|
rs1261651716
|
|
NM_015662.3(IFT172):c.246C>G (p.Ala82=)
|
|
|
NM_015662.3(IFT172):c.2487G>A (p.Leu829=)
|
rs2148505508
|
|
NM_015662.3(IFT172):c.2496C>T (p.Tyr832=)
|
rs377514145
|
|
NM_015662.3(IFT172):c.2521+15T>A
|
|
|
NM_015662.3(IFT172):c.2522-11C>T
|
|
|
NM_015662.3(IFT172):c.2522-15T>C
|
rs2148502867
|
|
NM_015662.3(IFT172):c.2532G>T (p.Leu844=)
|
rs1446552642
|
|
NM_015662.3(IFT172):c.2544C>G (p.Ala848=)
|
|
|
NM_015662.3(IFT172):c.2568A>G (p.Leu856=)
|
|
|
NM_015662.3(IFT172):c.2571G>A (p.Glu857=)
|
|
|
NM_015662.3(IFT172):c.2592G>A (p.Leu864=)
|
|
|
NM_015662.3(IFT172):c.2604G>A (p.Lys868=)
|
|
|
NM_015662.3(IFT172):c.2642+11A>T
|
|
|
NM_015662.3(IFT172):c.2642+12T>C
|
|
|
NM_015662.3(IFT172):c.2642+12T>G
|
rs775954601
|
|
NM_015662.3(IFT172):c.2642+18T>C
|
|
|
NM_015662.3(IFT172):c.2643-15T>C
|
|
|
NM_015662.3(IFT172):c.2643-18C>G
|
|
|
NM_015662.3(IFT172):c.2643-4C>T
|
|
|
NM_015662.3(IFT172):c.2661T>C (p.Ile887=)
|
|
|
NM_015662.3(IFT172):c.2685G>A (p.Gln895=)
|
|
|
NM_015662.3(IFT172):c.2691G>A (p.Lys897=)
|
|
|
NM_015662.3(IFT172):c.2715A>G (p.Leu905=)
|
rs985482566
|
|
NM_015662.3(IFT172):c.2757C>G (p.Ala919=)
|
|
|
NM_015662.3(IFT172):c.2765A>G (p.Tyr922Cys)
|
rs767901253
|
|
NM_015662.3(IFT172):c.2772C>T (p.Ser924=)
|
|
|
NM_015662.3(IFT172):c.2788-11A>G
|
|
|
NM_015662.3(IFT172):c.2788-12C>T
|
|
|
NM_015662.3(IFT172):c.2788-20C>T
|
|
|
NM_015662.3(IFT172):c.2811G>A (p.Lys937=)
|
rs1666401548
|
|
NM_015662.3(IFT172):c.282G>A (p.Lys94=)
|
|
|
NM_015662.3(IFT172):c.2877+10G>A
|
rs2148500039
|
|
NM_015662.3(IFT172):c.2877+8T>C
|
|
|
NM_015662.3(IFT172):c.2878-19T>C
|
|
|
NM_015662.3(IFT172):c.2878-4A>G
|
|
|
NM_015662.3(IFT172):c.2883G>A (p.Ala961=)
|
|
|
NM_015662.3(IFT172):c.2896A>C (p.Arg966=)
|
|
|
NM_015662.3(IFT172):c.291A>G (p.Glu97=)
|
rs189236939
|
|
NM_015662.3(IFT172):c.297-15del
|
|
|
NM_015662.3(IFT172):c.2976-16G>A
|
|
|
NM_015662.3(IFT172):c.2985G>A (p.Val995=)
|
|
|
NM_015662.3(IFT172):c.3054C>T (p.Arg1018=)
|
|
|
NM_015662.3(IFT172):c.3081C>G (p.Leu1027=)
|
rs1572750803
|
|
NM_015662.3(IFT172):c.3105G>A (p.Leu1035=)
|
|
|
NM_015662.3(IFT172):c.3111+20C>T
|
|
|
NM_015662.3(IFT172):c.3111+7C>T
|
|
|
NM_015662.3(IFT172):c.3112-15C>T
|
|
|
NM_015662.3(IFT172):c.3112-20C>T
|
|
|
NM_015662.3(IFT172):c.3112-7C>T
|
|
|
NM_015662.3(IFT172):c.3114G>A (p.Glu1038=)
|
|
|
NM_015662.3(IFT172):c.312C>T (p.Val104=)
|
|
|
NM_015662.3(IFT172):c.3225C>T (p.Tyr1075=)
|
rs1666265665
|
|
NM_015662.3(IFT172):c.3228+20C>G
|
|
|
NM_015662.3(IFT172):c.3229-9G>T
|
|
|
NM_015662.3(IFT172):c.3267C>T (p.His1089=)
|
|
|
NM_015662.3(IFT172):c.3294G>A (p.Leu1098=)
|
|
|
NM_015662.3(IFT172):c.3300A>G (p.Gly1100=)
|
|
|
NM_015662.3(IFT172):c.3312T>A (p.Val1104=)
|
rs2148494491
|
|
NM_015662.3(IFT172):c.3336C>T (p.Leu1112=)
|
|
|
NM_015662.3(IFT172):c.336+17T>G
|
rs980703626
|
|
NM_015662.3(IFT172):c.3371+12A>G
|
|
|
NM_015662.3(IFT172):c.3371+20C>T
|
|
|
NM_015662.3(IFT172):c.3372-20A>G
|
|
|
NM_015662.3(IFT172):c.3372-9C>T
|
rs755327956
|
|
NM_015662.3(IFT172):c.339T>C (p.Ser113=)
|
|
|
NM_015662.3(IFT172):c.3429G>A (p.Glu1143=)
|
rs2148490003
|
|
NM_015662.3(IFT172):c.3438C>T (p.Leu1146=)
|
|
|
NM_015662.3(IFT172):c.3447T>C (p.Ala1149=)
|
rs2148489948
|
|
NM_015662.3(IFT172):c.3465+11G>T
|
|
|
NM_015662.3(IFT172):c.3465+8T>C
|
|
|
NM_015662.3(IFT172):c.3466-13TC[2]
|
rs773373497
|
|
NM_015662.3(IFT172):c.3466-17C>T
|
rs2148489457
|
|
NM_015662.3(IFT172):c.3513C>A (p.Pro1171=)
|
|
|
NM_015662.3(IFT172):c.3516G>A (p.Lys1172=)
|
|
|
NM_015662.3(IFT172):c.3530+17A>G
|
|
|
NM_015662.3(IFT172):c.3530+18T>C
|
rs2148489134
|
|
NM_015662.3(IFT172):c.3530+20C>A
|
|
|
NM_015662.3(IFT172):c.3600C>A (p.Ala1200=)
|
rs1406584809
|
|
NM_015662.3(IFT172):c.3600C>T (p.Ala1200=)
|
rs1406584809
|
|
NM_015662.3(IFT172):c.3663G>A (p.Gly1221=)
|
rs892273103
|
|
NM_015662.3(IFT172):c.369A>G (p.Glu123=)
|
|
|
NM_015662.3(IFT172):c.3702T>C (p.Asn1234=)
|
|
|
NM_015662.3(IFT172):c.3711+8A>T
|
|
|
NM_015662.3(IFT172):c.3712-17C>A
|
rs760418910
|
|
NM_015662.3(IFT172):c.3712-18A>G
|
|
|
NM_015662.3(IFT172):c.3712-6G>C
|
rs1665914988
|
|
NM_015662.3(IFT172):c.3735T>G (p.Ala1245=)
|
|
|
NM_015662.3(IFT172):c.3736C>T (p.Leu1246=)
|
rs1665912193
|
|
NM_015662.3(IFT172):c.3778C>T (p.Leu1260=)
|
rs1012597627
|
|
NM_015662.3(IFT172):c.3801A>G (p.Glu1267=)
|
|
|
NM_015662.3(IFT172):c.3816G>C (p.Gly1272=)
|
|
|
NM_015662.3(IFT172):c.3819C>T (p.Ala1273=)
|
|
|
NM_015662.3(IFT172):c.3821+11A>T
|
|
|
NM_015662.3(IFT172):c.3822-12_3822-11del
|
rs2148486525
|
|
NM_015662.3(IFT172):c.3822-13C>G
|
rs765929814
|
|
NM_015662.3(IFT172):c.3822-15C>T
|
|
|
NM_015662.3(IFT172):c.3822-5C>T
|
|
|
NM_015662.3(IFT172):c.3822-8C>T
|
|
|
NM_015662.3(IFT172):c.3828G>A (p.Val1276=)
|
|
|
NM_015662.3(IFT172):c.384T>C (p.Phe128=)
|
|
|
NM_015662.3(IFT172):c.3870A>C (p.Gly1290=)
|
|
|
NM_015662.3(IFT172):c.387A>G (p.Gly129=)
|
|
|
NM_015662.3(IFT172):c.3888G>A (p.Val1296=)
|
|
|
NM_015662.3(IFT172):c.3951+11C>G
|
|
|
NM_015662.3(IFT172):c.3951+11C>T
|
|
|
NM_015662.3(IFT172):c.3951+17C>T
|
|
|
NM_015662.3(IFT172):c.3951+18T>A
|
|
|
NM_015662.3(IFT172):c.3951+8C>T
|
|
|
NM_015662.3(IFT172):c.3952-14G>A
|
rs763108930
|
|
NM_015662.3(IFT172):c.3952-6A>C
|
rs908057940
|
|
NM_015662.3(IFT172):c.399G>A (p.Gly133=)
|
|
|
NM_015662.3(IFT172):c.4011T>A (p.Ala1337=)
|
|
|
NM_015662.3(IFT172):c.402+8A>G
|
|
|
NM_015662.3(IFT172):c.4029T>A (p.Ile1343=)
|
|
|
NM_015662.3(IFT172):c.4041G>A (p.Lys1347=)
|
|
|
NM_015662.3(IFT172):c.4050+9del
|
|
|
NM_015662.3(IFT172):c.4051-13T>A
|
|
|
NM_015662.3(IFT172):c.4051-13del
|
rs756768673
|
|
NM_015662.3(IFT172):c.4051-8C>T
|
rs1183759904
|
|
NM_015662.3(IFT172):c.4107C>T (p.Ile1369=)
|
rs747023555
|
|
NM_015662.3(IFT172):c.4116G>A (p.Glu1372=)
|
rs758268726
|
|
NM_015662.3(IFT172):c.4131G>A (p.Ala1377=)
|
|
|
NM_015662.3(IFT172):c.4149G>A (p.Glu1383=)
|
|
|
NM_015662.3(IFT172):c.414A>C (p.Ala138=)
|
rs1668544883
|
|
NM_015662.3(IFT172):c.4160+19_4160+21del
|
rs760484345
|
|
NM_015662.3(IFT172):c.4161-10A>G
|
|
|
NM_015662.3(IFT172):c.4161-18C>G
|
rs1558357557
|
|
NM_015662.3(IFT172):c.4173T>C (p.Tyr1391=)
|
rs1572722884
|
|
NM_015662.3(IFT172):c.4176G>C (p.Val1392=)
|
rs1243938107
|
|
NM_015662.3(IFT172):c.4185T>C (p.His1395=)
|
|
|
NM_015662.3(IFT172):c.4224+8T>C
|
|
|
NM_015662.3(IFT172):c.4225-17G>A
|
|
|
NM_015662.3(IFT172):c.4225-17G>C
|
|
|
NM_015662.3(IFT172):c.4225-19C>G
|
|
|
NM_015662.3(IFT172):c.4225-19_4225-18del
|
|
|
NM_015662.3(IFT172):c.4225-9T>C
|
|
|
NM_015662.3(IFT172):c.4239T>C (p.Asp1413=)
|
rs748345321
|
|
NM_015662.3(IFT172):c.4258C>T (p.Leu1420=)
|
|
|
NM_015662.3(IFT172):c.4312-4dup
|
|
|
NM_015662.3(IFT172):c.435A>G (p.Ser145=)
|
|
|
NM_015662.3(IFT172):c.4374C>T (p.Ser1458=)
|
|
|
NM_015662.3(IFT172):c.4387T>C (p.Leu1463=)
|
rs1455837031
|
|
NM_015662.3(IFT172):c.4413C>T (p.Ala1471=)
|
|
|
NM_015662.3(IFT172):c.4428+15C>T
|
|
|
NM_015662.3(IFT172):c.4449G>A (p.Arg1483=)
|
|
|
NM_015662.3(IFT172):c.4476T>C (p.Pro1492=)
|
|
|
NM_015662.3(IFT172):c.4485C>T (p.Asn1495=)
|
|
|
NM_015662.3(IFT172):c.4491C>G (p.Ala1497=)
|
rs774451726
|
|
NM_015662.3(IFT172):c.4521A>C (p.Arg1507=)
|
rs1244568496
|
|
NM_015662.3(IFT172):c.4530C>T (p.Leu1510=)
|
|
|
NM_015662.3(IFT172):c.4536C>T (p.Asn1512=)
|
|
|
NM_015662.3(IFT172):c.4540-15G>A
|
|
|
NM_015662.3(IFT172):c.4554G>A (p.Val1518=)
|
|
|
NM_015662.3(IFT172):c.4590G>A (p.Glu1530=)
|
|
|
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu)
|
rs540171862
|
|
NM_015662.3(IFT172):c.4599G>A (p.Thr1533=)
|
|
|
NM_015662.3(IFT172):c.4617T>C (p.His1539=)
|
rs1266021624
|
|
NM_015662.3(IFT172):c.4659+16T>A
|
rs143060452
|
|
NM_015662.3(IFT172):c.4660-5C>T
|
|
|
NM_015662.3(IFT172):c.4668G>T (p.Val1556=)
|
|
|
NM_015662.3(IFT172):c.4692C>T (p.Leu1564=)
|
|
|
NM_015662.3(IFT172):c.4743C>G (p.Gly1581=)
|
|
|
NM_015662.3(IFT172):c.4749T>A (p.Ala1583=)
|
rs1160368460
|
|
NM_015662.3(IFT172):c.4755+20G>C
|
|
|
NM_015662.3(IFT172):c.4755+9G>A
|
rs375261962
|
|
NM_015662.3(IFT172):c.4756-13T>C
|
|
|
NM_015662.3(IFT172):c.4756-15T>A
|
|
|
NM_015662.3(IFT172):c.4756-17A>C
|
|
|
NM_015662.3(IFT172):c.4756-17A>T
|
rs753517897
|
|
NM_015662.3(IFT172):c.4756-20G>C
|
|
|
NM_015662.3(IFT172):c.4756-20G>T
|
|
|
NM_015662.3(IFT172):c.4756-5T>C
|
|
|
NM_015662.3(IFT172):c.4756-6C>G
|
|
|
NM_015662.3(IFT172):c.4756-9T>G
|
|
|
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=)
|
rs369400518
|
|
NM_015662.3(IFT172):c.4812C>T (p.Thr1604=)
|
rs369400518
|
|
NM_015662.3(IFT172):c.4815+10G>A
|
rs759461544
|
|
NM_015662.3(IFT172):c.4815+10del
|
|
|
NM_015662.3(IFT172):c.4815+12A>G
|
rs774356097
|
|
NM_015662.3(IFT172):c.4815+16G>C
|
rs1296172696
|
|
NM_015662.3(IFT172):c.4815+20C>G
|
|
|
NM_015662.3(IFT172):c.4816-5T>C
|
|
|
NM_015662.3(IFT172):c.4816-9_4816-8del
|
rs777369595
|
|
NM_015662.3(IFT172):c.482+10G>C
|
|
|
NM_015662.3(IFT172):c.482+16T>G
|
|
|
NM_015662.3(IFT172):c.482+9A>G
|
|
|
NM_015662.3(IFT172):c.483-19C>T
|
|
|
NM_015662.3(IFT172):c.483-4T>C
|
rs1668525396
|
|
NM_015662.3(IFT172):c.483-7T>C
|
|
|
NM_015662.3(IFT172):c.483-9C>T
|
|
|
NM_015662.3(IFT172):c.4842C>T (p.Gly1614=)
|
|
|
NM_015662.3(IFT172):c.4851C>T (p.His1617=)
|
|
|
NM_015662.3(IFT172):c.4902G>A (p.Lys1634=)
|
|
|
NM_015662.3(IFT172):c.4914+13G>T
|
rs867633277
|
|
NM_015662.3(IFT172):c.4914+20A>G
|
|
|
NM_015662.3(IFT172):c.4914+7G>A
|
|
|
NM_015662.3(IFT172):c.4915-16T>A
|
|
|
NM_015662.3(IFT172):c.4915-5T>C
|
|
|
NM_015662.3(IFT172):c.4915-5T>G
|
|
|
NM_015662.3(IFT172):c.4950T>G (p.Leu1650=)
|
rs1238278691
|
|
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)
|
rs529850410
|
|
NM_015662.3(IFT172):c.5049C>G (p.Ala1683=)
|
rs1285975087
|
|
NM_015662.3(IFT172):c.5068+14C>T
|
|
|
NM_015662.3(IFT172):c.5069-20C>A
|
|
|
NM_015662.3(IFT172):c.5082G>C (p.Leu1694=)
|
|
|
NM_015662.3(IFT172):c.5106G>A (p.Arg1702=)
|
rs2148464737
|
|
NM_015662.3(IFT172):c.5142A>G (p.Lys1714=)
|
|
|
NM_015662.3(IFT172):c.5154C>T (p.Ala1718=)
|
|
|
NM_015662.3(IFT172):c.5160+12_5160+14del
|
|
|
NM_015662.3(IFT172):c.5160+13G>A
|
rs1185416215
|
|
NM_015662.3(IFT172):c.5160+14A>G
|
|
|
NM_015662.3(IFT172):c.5160+15C>T
|
|
|
NM_015662.3(IFT172):c.5160+16T>G
|
|
|
NM_015662.3(IFT172):c.5161-5C>G
|
|
|
NM_015662.3(IFT172):c.5161-5C>T
|
|
|
NM_015662.3(IFT172):c.525C>T (p.Thr175=)
|
|
|
NM_015662.3(IFT172):c.528C>T (p.Ile176=)
|
|
|
NM_015662.3(IFT172):c.549T>C (p.Asp183=)
|
|
|
NM_015662.3(IFT172):c.555C>G (p.Gly185=)
|
rs750613450
|
|
NM_015662.3(IFT172):c.555C>T (p.Gly185=)
|
rs750613450
|
|
NM_015662.3(IFT172):c.570+14A>C
|
|
|
NM_015662.3(IFT172):c.570+19G>C
|
rs761066634
|
|
NM_015662.3(IFT172):c.571-12C>T
|
rs2148550539
|
|
NM_015662.3(IFT172):c.571-17C>T
|
|
|
NM_015662.3(IFT172):c.571-18C>T
|
|
|
NM_015662.3(IFT172):c.571-7G>C
|
|
|
NM_015662.3(IFT172):c.597A>G (p.Pro199=)
|
|
|
NM_015662.3(IFT172):c.630C>T (p.Ile210=)
|
|
|
NM_015662.3(IFT172):c.726G>A (p.Glu242=)
|
|
|
NM_015662.3(IFT172):c.729C>T (p.Phe243=)
|
|
|
NM_015662.3(IFT172):c.738T>C (p.Ala246=)
|
rs1365791183
|
|
NM_015662.3(IFT172):c.756C>G (p.Gly252=)
|
|
|
NM_015662.3(IFT172):c.785+16A>G
|
|
|
NM_015662.3(IFT172):c.786-18C>G
|
rs773491435
|
|
NM_015662.3(IFT172):c.786-18C>T
|
|
|
NM_015662.3(IFT172):c.813A>G (p.Arg271=)
|
|
|
NM_015662.3(IFT172):c.834A>G (p.Ala278=)
|
rs1221821042
|
|
NM_015662.3(IFT172):c.843G>A (p.Lys281=)
|
rs1668252791
|
|
NM_015662.3(IFT172):c.894C>T (p.Gly298=)
|
rs2148547913
|
|
NM_015662.3(IFT172):c.909+17C>A
|
rs376213191
|
|
NM_015662.3(IFT172):c.909+17C>G
|
|
|
NM_015662.3(IFT172):c.910-20G>A
|
|
|
NM_015662.3(IFT172):c.910-8C>T
|
|
|
NM_015662.3(IFT172):c.933A>G (p.Glu311=)
|
|
|
NM_015662.3(IFT172):c.984G>A (p.Leu328=)
|
|
|
NM_015702.3(MMADHC):c.10-11G>C
|
|
|
NM_015702.3(MMADHC):c.10-13G>A
|
|
|
NM_015702.3(MMADHC):c.105A>G (p.Gly35=)
|
|
|
NM_015702.3(MMADHC):c.105A>T (p.Gly35=)
|
rs761480889
|
|
NM_015702.3(MMADHC):c.108A>G (p.Ser36=)
|
|
|
NM_015702.3(MMADHC):c.111A>C (p.Ser37=)
|
|
|
NM_015702.3(MMADHC):c.117G>T (p.Ser39=)
|
|
|
NM_015702.3(MMADHC):c.120T>C (p.Asp40=)
|
|
|
NM_015702.3(MMADHC):c.123G>A (p.Glu41=)
|
rs1190732521
|
|
NM_015702.3(MMADHC):c.138T>C (p.Ala46=)
|
|
|
NM_015702.3(MMADHC):c.150T>C (p.Asp50=)
|
rs2105049895
|
|
NM_015702.3(MMADHC):c.154+17A>C
|
|
|
NM_015702.3(MMADHC):c.154+20G>C
|
|
|
NM_015702.3(MMADHC):c.154+9A>T
|
rs2105049874
|
|
NM_015702.3(MMADHC):c.155-10T>C
|
|
|
NM_015702.3(MMADHC):c.155-12_155-10del
|
|
|
NM_015702.3(MMADHC):c.155-16T>G
|
|
|
NM_015702.3(MMADHC):c.155-17T>C
|
|
|
NM_015702.3(MMADHC):c.155-6C>T
|
|
|
NM_015702.3(MMADHC):c.155-7T>C
|
rs1305728146
|
|
NM_015702.3(MMADHC):c.155-8C>G
|
rs1349035917
|
|
NM_015702.3(MMADHC):c.160C>A (p.Arg54=)
|
|
|
NM_015702.3(MMADHC):c.168G>A (p.Val56=)
|
rs2105048289
|
|
NM_015702.3(MMADHC):c.192C>A (p.Pro64=)
|
rs2105048270
|
|
NM_015702.3(MMADHC):c.192C>T (p.Pro64=)
|
|
|
NM_015702.3(MMADHC):c.207T>C (p.Asp69=)
|
rs1327529103
|
|
NM_015702.3(MMADHC):c.213G>A (p.Arg71=)
|
|
|
NM_015702.3(MMADHC):c.234A>T (p.Ile78=)
|
|
|
NM_015702.3(MMADHC):c.249C>T (p.His83=)
|
|
|
NM_015702.3(MMADHC):c.252C>T (p.Leu84=)
|
|
|
NM_015702.3(MMADHC):c.27C>T (p.Ala9=)
|
|
|
NM_015702.3(MMADHC):c.307C>T (p.Leu103=)
|
|
|
NM_015702.3(MMADHC):c.309A>C (p.Leu103=)
|
|
|
NM_015702.3(MMADHC):c.309A>T (p.Leu103=)
|
rs1053884096
|
|
NM_015702.3(MMADHC):c.30A>G (p.Arg10=)
|
rs749344711
|
|
NM_015702.3(MMADHC):c.318T>C (p.Pro106=)
|
|
|
NM_015702.3(MMADHC):c.333A>G (p.Arg111=)
|
|
|
NM_015702.3(MMADHC):c.342T>C (p.Phe114=)
|
|
|
NM_015702.3(MMADHC):c.360G>A (p.Val120=)
|
|
|
NM_015702.3(MMADHC):c.372+17A>G
|
|
|
NM_015702.3(MMADHC):c.372+8G>A
|
rs2105048110
|
|
NM_015702.3(MMADHC):c.372+8G>C
|
rs2105048110
|
|
NM_015702.3(MMADHC):c.372+8G>T
|
|
|
NM_015702.3(MMADHC):c.373-10dup
|
rs1682721920
|
|
NM_015702.3(MMADHC):c.373-13T>C
|
|
|
NM_015702.3(MMADHC):c.373-13T>G
|
|
|
NM_015702.3(MMADHC):c.373-14C>G
|
|
|
NM_015702.3(MMADHC):c.373-18T>C
|
|
|
NM_015702.3(MMADHC):c.373-4T>G
|
|
|
NM_015702.3(MMADHC):c.373-5C>T
|
|
|
NM_015702.3(MMADHC):c.373-8C>G
|
|
|
NM_015702.3(MMADHC):c.373-8C>T
|
|
|
NM_015702.3(MMADHC):c.393A>G (p.Glu131=)
|
rs1682721203
|
|
NM_015702.3(MMADHC):c.39C>T (p.Ser13=)
|
rs543128117
|
|
NM_015702.3(MMADHC):c.402T>A (p.Ile134=)
|
|
|
NM_015702.3(MMADHC):c.438A>G (p.Val146=)
|
|
|
NM_015702.3(MMADHC):c.456A>G (p.Thr152=)
|
rs374470946
|
|
NM_015702.3(MMADHC):c.459T>C (p.Cys153=)
|
rs1323984126
|
|
NM_015702.3(MMADHC):c.471G>A (p.Leu157=)
|
|
|
NM_015702.3(MMADHC):c.478+10G>A
|
|
|
NM_015702.3(MMADHC):c.478+12T>C
|
|
|
NM_015702.3(MMADHC):c.478+15A>T
|
|
|
NM_015702.3(MMADHC):c.478+19T>G
|
|
|
NM_015702.3(MMADHC):c.478+7C>A
|
|
|
NM_015702.3(MMADHC):c.478+7C>T
|
rs2105046042
|
|
NM_015702.3(MMADHC):c.478+8A>T
|
|
|
NM_015702.3(MMADHC):c.478+9T>C
|
rs1573877066
|
|
NM_015702.3(MMADHC):c.479-11_479-9del
|
rs777304368
|
|
NM_015702.3(MMADHC):c.479-13T>C
|
|
|
NM_015702.3(MMADHC):c.479-15T>A
|
|
|
NM_015702.3(MMADHC):c.479-18G>C
|
|
|
NM_015702.3(MMADHC):c.479-20A>G
|
|
|
NM_015702.3(MMADHC):c.479-4G>A
|
rs2105045611
|
|
NM_015702.3(MMADHC):c.479-6T>C
|
rs1682708794
|
|
NM_015702.3(MMADHC):c.479-7T>A
|
rs1246748373
|
|
NM_015702.3(MMADHC):c.479-7T>C
|
rs1246748373
|
|
NM_015702.3(MMADHC):c.486A>G (p.Glu162=)
|
|
|
NM_015702.3(MMADHC):c.48A>C (p.Pro16=)
|
rs2105050018
|
|
NM_015702.3(MMADHC):c.507T>C (p.Ala169=)
|
rs1347714473
|
|
NM_015702.3(MMADHC):c.519A>G (p.Leu173=)
|
|
|
NM_015702.3(MMADHC):c.531T>C (p.Thr177=)
|
rs369822209
|
|
NM_015702.3(MMADHC):c.531T>G (p.Thr177=)
|
|
|
NM_015702.3(MMADHC):c.534A>G (p.Val178=)
|
rs1268371654
|
|
NM_015702.3(MMADHC):c.537A>C (p.Thr179=)
|
|
|
NM_015702.3(MMADHC):c.549G>A (p.Lys183=)
|
|
|
NM_015702.3(MMADHC):c.555T>C (p.Asp185=)
|
|
|
NM_015702.3(MMADHC):c.57C>T (p.Cys19=)
|
|
|
NM_015702.3(MMADHC):c.588A>G (p.Glu196=)
|
|
|
NM_015702.3(MMADHC):c.597G>C (p.Val199=)
|
|
|
NM_015702.3(MMADHC):c.601T>C (p.Leu201=)
|
rs2105045479
|
|
NM_015702.3(MMADHC):c.609+11C>G
|
|
|
NM_015702.3(MMADHC):c.609+13A>G
|
|
|
NM_015702.3(MMADHC):c.609+14T>C
|
|
|
NM_015702.3(MMADHC):c.609+8T>G
|
|
|
NM_015702.3(MMADHC):c.609+8_609+100del
|
rs1553453945
|
|
NM_015702.3(MMADHC):c.610-12C>T
|
|
|
NM_015702.3(MMADHC):c.610-13A>G
|
|
|
NM_015702.3(MMADHC):c.610-4G>A
|
rs776311269
|
|
NM_015702.3(MMADHC):c.610-8C>T
|
|
|
NM_015702.3(MMADHC):c.610-8del
|
|
|
NM_015702.3(MMADHC):c.610-9C>A
|
|
|
NM_015702.3(MMADHC):c.610-9C>G
|
|
|
NM_015702.3(MMADHC):c.612C>T (p.Phe204=)
|
rs1573874420
|
|
NM_015702.3(MMADHC):c.618T>C (p.Asn206=)
|
|
|
NM_015702.3(MMADHC):c.630A>G (p.Glu210=)
|
|
|
NM_015702.3(MMADHC):c.639T>C (p.Tyr213=)
|
|
|
NM_015702.3(MMADHC):c.666T>C (p.Ala222=)
|
rs2105042235
|
|
NM_015702.3(MMADHC):c.672T>C (p.Phe224=)
|
rs2105042231
|
|
NM_015702.3(MMADHC):c.678C>T (p.Asp226=)
|
|
|
NM_015702.3(MMADHC):c.684A>C (p.Ser228=)
|
rs766184567
|
|
NM_015702.3(MMADHC):c.684A>T (p.Ser228=)
|
|
|
NM_015702.3(MMADHC):c.696+16T>C
|
|
|
NM_015702.3(MMADHC):c.696+17T>A
|
|
|
NM_015702.3(MMADHC):c.697-10A>G
|
|
|
NM_015702.3(MMADHC):c.697-16G>A
|
|
|
NM_015702.3(MMADHC):c.697-17C>T
|
|
|
NM_015702.3(MMADHC):c.697-18del
|
|
|
NM_015702.3(MMADHC):c.697-21_697-7dup
|
|
|
NM_015702.3(MMADHC):c.697-4T>C
|
|
|
NM_015702.3(MMADHC):c.697-5C>T
|
|
|
NM_015702.3(MMADHC):c.708A>G (p.Pro236=)
|
rs550333538
|
|
NM_015702.3(MMADHC):c.711T>C (p.Tyr237=)
|
|
|
NM_015702.3(MMADHC):c.714A>C (p.Thr238=)
|
rs2105041533
|
|
NM_015702.3(MMADHC):c.723T>G (p.Thr241=)
|
|
|
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)
|
rs886054920
|
|
NM_015702.3(MMADHC):c.795T>C (p.Ile265=)
|
rs1682615780
|
|
NM_015702.3(MMADHC):c.819T>C (p.His273=)
|
rs752425275
|
|
NM_015702.3(MMADHC):c.822A>G (p.Val274=)
|
rs1474967244
|
|
NM_015702.3(MMADHC):c.825T>C (p.Val275=)
|
|
|
NM_015702.3(MMADHC):c.840C>T (p.Phe280=)
|
rs2105041390
|
|
NM_015702.3(MMADHC):c.864T>C (p.His288=)
|
|
|
NM_015702.3(MMADHC):c.876A>G (p.Lys292=)
|
rs1558844562
|
|
NM_015702.3(MMADHC):c.877T>C (p.Leu293=)
|
|
|
NM_015702.3(MMADHC):c.885A>C (p.Gly295=)
|
rs746282965
|
|
NM_015702.3(MMADHC):c.885A>G (p.Gly295=)
|
rs746282965
|
|
NM_015702.3(MMADHC):c.891G>A (p.Ter297=)
|
|
|
NM_015702.3(MMADHC):c.9+12A>T
|
|
|
NM_015702.3(MMADHC):c.9+16C>T
|
|
|
NM_015702.3(MMADHC):c.9+17T>A
|
rs372601477
|
|
NM_015702.3(MMADHC):c.9+17T>G
|
|
|
NM_015702.3(MMADHC):c.9+18T>G
|
rs2105053453
|
|
NM_015702.3(MMADHC):c.9+19A>C
|
|
|
NM_015702.3(MMADHC):c.90C>G (p.Ala30=)
|
rs2105049979
|
|
NM_015702.3(MMADHC):c.96G>A (p.Ser32=)
|
|
|
NM_015702.3(MMADHC):c.96G>T (p.Ser32=)
|
rs1366609158
|
|
NM_015702.3(MMADHC):c.99T>C (p.Thr33=)
|
rs368111926
|
|
NM_016335.6(PRODH):c.1005C>T (p.Asn335=)
|
rs149926285
|
|
NM_016335.6(PRODH):c.1011+12G>A
|
|
|
NM_016335.6(PRODH):c.1012-15G>A
|
|
|
NM_016335.6(PRODH):c.1012-16C>T
|
|
|
NM_016335.6(PRODH):c.1012-18C>T
|
|
|
NM_016335.6(PRODH):c.1021C>T (p.Leu341=)
|
|
|
NM_016335.6(PRODH):c.1071C>G (p.Thr357=)
|
|
|
NM_016335.6(PRODH):c.1098G>T (p.Leu366=)
|
rs2146211029
|
|
NM_016335.6(PRODH):c.10A>C (p.Arg4=)
|
|
|
NM_016335.6(PRODH):c.1105-13C>G
|
|
|
NM_016335.6(PRODH):c.1105-14C>A
|
|
|
NM_016335.6(PRODH):c.1105-14C>G
|
|
|
NM_016335.6(PRODH):c.1105-9G>A
|
|
|
NM_016335.6(PRODH):c.1127G>A (p.Arg376Gln)
|
|
|
NM_016335.6(PRODH):c.1152C>G (p.Thr384=)
|
|
|
NM_016335.6(PRODH):c.1164G>A (p.Pro388=)
|
rs773989059
|
|
NM_016335.6(PRODH):c.1182G>C (p.Thr394=)
|
|
|
NM_016335.6(PRODH):c.123G>A (p.Gly41=)
|
|
|
NM_016335.6(PRODH):c.1251+7C>T
|
|
|
NM_016335.6(PRODH):c.129C>G (p.Ala43=)
|
|
|
NM_016335.6(PRODH):c.1344C>G (p.Ala448=)
|
|
|
NM_016335.6(PRODH):c.1386C>A (p.Pro462=)
|
|
|
NM_016335.6(PRODH):c.1395C>T (p.Pro465=)
|
|
|
NM_016335.6(PRODH):c.1413C>T (p.Asn471=)
|
|
|
NM_016335.6(PRODH):c.1427+20C>G
|
|
|
NM_016335.6(PRODH):c.1428-15T>C
|
|
|
NM_016335.6(PRODH):c.1464C>T (p.Asn488=)
|
|
|
NM_016335.6(PRODH):c.1526+15C>T
|
|
|
NM_016335.6(PRODH):c.1527-11C>T
|
|
|
NM_016335.6(PRODH):c.1527-19C>T
|
|
|
NM_016335.6(PRODH):c.1527-9C>T
|
|
|
NM_016335.6(PRODH):c.1611G>A (p.Pro537=)
|
|
|
NM_016335.6(PRODH):c.1615+13C>G
|
|
|
NM_016335.6(PRODH):c.1615+20G>C
|
|
|
NM_016335.6(PRODH):c.1615+20G>T
|
|
|
NM_016335.6(PRODH):c.1616-16A>T
|
|
|
NM_016335.6(PRODH):c.1616-20G>A
|
|
|
NM_016335.6(PRODH):c.1616-4G>A
|
|
|
NM_016335.6(PRODH):c.1617C>T (p.Gly539=)
|
|
|
NM_016335.6(PRODH):c.1632C>T (p.Pro544=)
|
|
|
NM_016335.6(PRODH):c.1644C>T (p.Tyr548=)
|
|
|
NM_016335.6(PRODH):c.1674G>A (p.Leu558=)
|
|
|
NM_016335.6(PRODH):c.1704C>T (p.Asn568=)
|
|
|
NM_016335.6(PRODH):c.1758C>T (p.Leu586=)
|
|
|
NM_016335.6(PRODH):c.18C>A (p.Ala6=)
|
|
|
NM_016335.6(PRODH):c.18C>T (p.Ala6=)
|
|
|
NM_016335.6(PRODH):c.21G>A (p.Leu7=)
|
rs539772713
|
|
NM_016335.6(PRODH):c.21G>C (p.Leu7=)
|
|
|
NM_016335.6(PRODH):c.249C>G (p.Pro83=)
|
|
|
NM_016335.6(PRODH):c.24C>T (p.Pro8=)
|
|
|
NM_016335.6(PRODH):c.255G>C (p.Leu85=)
|
|
|
NM_016335.6(PRODH):c.270G>A (p.Glu90=)
|
rs562699700
|
|
NM_016335.6(PRODH):c.273+16G>A
|
|
|
NM_016335.6(PRODH):c.336C>T (p.Thr112=)
|
|
|
NM_016335.6(PRODH):c.357C>T (p.Ala119=)
|
|
|
NM_016335.6(PRODH):c.369G>A (p.Gln123=)
|
|
|
NM_016335.6(PRODH):c.408C>T (p.Phe136=)
|
rs143311513
|
|
NM_016335.6(PRODH):c.456C>G (p.Pro152=)
|
|
|
NM_016335.6(PRODH):c.482+13C>T
|
|
|
NM_016335.6(PRODH):c.482+15G>A
|
|
|
NM_016335.6(PRODH):c.483-10C>T
|
|
|
NM_016335.6(PRODH):c.486C>G (p.Ser162=)
|
|
|
NM_016335.6(PRODH):c.510T>A (p.Asp170Glu)
|
|
|
NM_016335.6(PRODH):c.517+17C>T
|
|
|
NM_016335.6(PRODH):c.518-19C>T
|
|
|
NM_016335.6(PRODH):c.518-4C>T
|
|
|
NM_016335.6(PRODH):c.54C>T (p.Val18=)
|
rs1032634465
|
|
NM_016335.6(PRODH):c.561C>T (p.Phe187=)
|
|
|
NM_016335.6(PRODH):c.57G>A (p.Pro19=)
|
rs1479974810
|
|
NM_016335.6(PRODH):c.609C>T (p.Ala203=)
|
|
|
NM_016335.6(PRODH):c.612T>C (p.Asn204=)
|
|
|
NM_016335.6(PRODH):c.668-5G>A
|
|
|
NM_016335.6(PRODH):c.69G>T (p.Ala23=)
|
|
|
NM_016335.6(PRODH):c.6T>C (p.Ala2=)
|
|
|
NM_016335.6(PRODH):c.730C>T (p.Leu244=)
|
|
|
NM_016335.6(PRODH):c.732+14C>A
|
|
|
NM_016335.6(PRODH):c.733-13C>T
|
|
|
NM_016335.6(PRODH):c.804G>A (p.Ala268=)
|
rs1174381102
|
|
NM_016335.6(PRODH):c.81C>A (p.Arg27=)
|
|
|
NM_016335.6(PRODH):c.829C>T (p.Leu277=)
|
|
|
NM_016335.6(PRODH):c.849+16_849+17del
|
rs2146213055
|
|
NM_016335.6(PRODH):c.850-10A>G
|
|
|
NM_016335.6(PRODH):c.850-18G>C
|
|
|
NM_016335.6(PRODH):c.858C>T (p.Val286=)
|
|
|
NM_016335.6(PRODH):c.87G>A (p.Gln29=)
|
rs1417739533
|
|
NM_016335.6(PRODH):c.891T>A (p.Ile297=)
|
|
|
NM_016335.6(PRODH):c.90C>T (p.Pro30=)
|
rs2146224247
|
|
NM_016335.6(PRODH):c.929+12C>G
|
|
|
NM_016335.6(PRODH):c.930-14G>A
|
|
|
NM_016335.6(PRODH):c.933C>T (p.Thr311=)
|
|
|
NM_016335.6(PRODH):c.972G>A (p.Arg324=)
|
|
|
NM_016335.6(PRODH):c.981G>A (p.Leu327=)
|
|
|
NM_016335.6(PRODH):c.9G>A (p.Leu3=)
|
|
|
NM_016579.4(CD320):c.111G>T (p.Pro37=)
|
|
|
NM_016579.4(CD320):c.142+10G>A
|
|
|
NM_016579.4(CD320):c.143-5C>T
|
|
|
NM_016579.4(CD320):c.240C>T (p.Cys80=)
|
|
|
NM_016579.4(CD320):c.268+15C>T
|
|
|
NM_016579.4(CD320):c.446C>T (p.Thr149Met)
|
|
|
NM_016579.4(CD320):c.456C>T (p.Cys152=)
|
rs758485696
|
|
NM_016579.4(CD320):c.477C>A (p.Pro159=)
|
rs201828443
|
|
NM_016579.4(CD320):c.486C>T (p.Ser162=)
|
|
|
NM_016579.4(CD320):c.495C>G (p.Leu165=)
|
|
|
NM_016579.4(CD320):c.502+13G>C
|
|
|
NM_016579.4(CD320):c.503-17G>T
|
|
|
NM_016579.4(CD320):c.522G>A (p.Pro174=)
|
rs79658260
|
|
NM_016579.4(CD320):c.555G>A (p.Val185=)
|
|
|
NM_016579.4(CD320):c.633C>T (p.Val211=)
|
|
|
NM_016579.4(CD320):c.660A>C (p.Gly220=)
|
|
|
NM_016579.4(CD320):c.681T>C (p.Thr227=)
|
|
|
NM_016579.4(CD320):c.6C>T (p.Ser2=)
|
rs749442494
|
|
NM_016579.4(CD320):c.708G>T (p.Ala236=)
|
|
|
NM_016579.4(CD320):c.75C>T (p.Leu25=)
|
rs371432802
|
|
NM_018368.4(LMBRD1):c.1008A>G (p.Gly336=)
|
|
|
NM_018368.4(LMBRD1):c.1083+11_1083+14del
|
|
|
NM_018368.4(LMBRD1):c.1083+12A>T
|
|
|
NM_018368.4(LMBRD1):c.1083+15A>C
|
|
|
NM_018368.4(LMBRD1):c.1083+16A>G
|
|
|
NM_018368.4(LMBRD1):c.1084-12dup
|
rs757172535
|
|
NM_018368.4(LMBRD1):c.1084-16C>A
|
|
|
NM_018368.4(LMBRD1):c.1084-16C>T
|
|
|
NM_018368.4(LMBRD1):c.1084-20A>G
|
|
|
NM_018368.4(LMBRD1):c.1084-3dup
|
|
|
NM_018368.4(LMBRD1):c.1095T>G (p.Leu365=)
|
|
|
NM_018368.4(LMBRD1):c.1116T>C (p.Ile372=)
|
|
|
NM_018368.4(LMBRD1):c.1119T>C (p.Ile373=)
|
|
|
NM_018368.4(LMBRD1):c.117G>A (p.Arg39=)
|
|
|
NM_018368.4(LMBRD1):c.1188+10T>A
|
|
|
NM_018368.4(LMBRD1):c.1188+16A>G
|
|
|
NM_018368.4(LMBRD1):c.1189-12T>G
|
|
|
NM_018368.4(LMBRD1):c.1189-13C>T
|
|
|
NM_018368.4(LMBRD1):c.1189-17C>T
|
|
|
NM_018368.4(LMBRD1):c.1189-19G>C
|
rs767672251
|
|
NM_018368.4(LMBRD1):c.1189-4C>G
|
|
|
NM_018368.4(LMBRD1):c.1189-4C>T
|
rs199650812
|
|
NM_018368.4(LMBRD1):c.1189-8C>A
|
|
|
NM_018368.4(LMBRD1):c.1191A>G (p.Leu397=)
|
|
|
NM_018368.4(LMBRD1):c.120G>T (p.Arg40=)
|
|
|
NM_018368.4(LMBRD1):c.1215C>G (p.Thr405=)
|
|
|
NM_018368.4(LMBRD1):c.1224A>G (p.Gln408=)
|
|
|
NM_018368.4(LMBRD1):c.1239C>T (p.Leu413=)
|
|
|
NM_018368.4(LMBRD1):c.1248A>T (p.Ile416=)
|
|
|
NM_018368.4(LMBRD1):c.1284T>A (p.Ile428=)
|
|
|
NM_018368.4(LMBRD1):c.1299C>G (p.Pro433=)
|
|
|
NM_018368.4(LMBRD1):c.1302A>G (p.Gln434=)
|
|
|
NM_018368.4(LMBRD1):c.1317A>T (p.Gly439=)
|
|
|
NM_018368.4(LMBRD1):c.1339-12T>G
|
|
|
NM_018368.4(LMBRD1):c.1339-18T>A
|
|
|
NM_018368.4(LMBRD1):c.1339-8T>C
|
|
|
NM_018368.4(LMBRD1):c.1341T>G (p.Thr447=)
|
|
|
NM_018368.4(LMBRD1):c.1353T>C (p.Ser451=)
|
|
|
NM_018368.4(LMBRD1):c.135C>T (p.Val45=)
|
|
|
NM_018368.4(LMBRD1):c.1368C>A (p.Gly456=)
|
|
|
NM_018368.4(LMBRD1):c.1383T>A (p.Ser461=)
|
|
|
NM_018368.4(LMBRD1):c.1417+12T>C
|
|
|
NM_018368.4(LMBRD1):c.1418-14A>G
|
|
|
NM_018368.4(LMBRD1):c.1434C>G (p.Thr478=)
|
|
|
NM_018368.4(LMBRD1):c.1443C>T (p.Tyr481=)
|
|
|
NM_018368.4(LMBRD1):c.1470C>T (p.Phe490=)
|
|
|
NM_018368.4(LMBRD1):c.1473T>C (p.Ser491=)
|
|
|
NM_018368.4(LMBRD1):c.1500C>T (p.Ala500=)
|
|
|
NM_018368.4(LMBRD1):c.1503T>C (p.Phe501=)
|
|
|
NM_018368.4(LMBRD1):c.1509+12T>C
|
rs2149832420
|
|
NM_018368.4(LMBRD1):c.1509+13A>G
|
|
|
NM_018368.4(LMBRD1):c.1509+15C>T
|
|
|
NM_018368.4(LMBRD1):c.1509+18A>G
|
|
|
NM_018368.4(LMBRD1):c.1509+20G>A
|
rs116095397
|
|
NM_018368.4(LMBRD1):c.1509+7G>A
|
|
|
NM_018368.4(LMBRD1):c.1510-11T>C
|
|
|
NM_018368.4(LMBRD1):c.1510-16T>G
|
|
|
NM_018368.4(LMBRD1):c.1510-4A>G
|
|
|
NM_018368.4(LMBRD1):c.1510-9A>C
|
|
|
NM_018368.4(LMBRD1):c.1524A>T (p.Gly508=)
|
|
|
NM_018368.4(LMBRD1):c.1530T>C (p.Ile510=)
|
|
|
NM_018368.4(LMBRD1):c.1557G>T (p.Ser519=)
|
|
|
NM_018368.4(LMBRD1):c.1572A>G (p.Val524=)
|
|
|
NM_018368.4(LMBRD1):c.1599T>C (p.Asp533=)
|
|
|
NM_018368.4(LMBRD1):c.15C>T (p.Gly5=)
|
|
|
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
|
rs534280770
|
|
NM_018368.4(LMBRD1):c.1614T>C (p.Tyr538=)
|
|
|
NM_018368.4(LMBRD1):c.171A>G (p.Ala57=)
|
|
|
NM_018368.4(LMBRD1):c.174T>G (p.Leu58=)
|
|
|
NM_018368.4(LMBRD1):c.18G>T (p.Ala6=)
|
|
|
NM_018368.4(LMBRD1):c.192A>G (p.Leu64=)
|
|
|
NM_018368.4(LMBRD1):c.198G>A (p.Val66=)
|
|
|
NM_018368.4(LMBRD1):c.21C>T (p.Ala7=)
|
|
|
NM_018368.4(LMBRD1):c.246+10A>G
|
|
|
NM_018368.4(LMBRD1):c.246+16C>T
|
|
|
NM_018368.4(LMBRD1):c.247-13C>A
|
|
|
NM_018368.4(LMBRD1):c.247-14T>A
|
|
|
NM_018368.4(LMBRD1):c.247-17G>A
|
|
|
NM_018368.4(LMBRD1):c.247-20A>G
|
|
|
NM_018368.4(LMBRD1):c.247-6T>C
|
|
|
NM_018368.4(LMBRD1):c.247-8T>A
|
rs769329039
|
|
NM_018368.4(LMBRD1):c.24G>C (p.Ser8=)
|
|
|
NM_018368.4(LMBRD1):c.27G>T (p.Ala9=)
|
rs769952932
|
|
NM_018368.4(LMBRD1):c.307+13C>T
|
|
|
NM_018368.4(LMBRD1):c.307+15G>A
|
|
|
NM_018368.4(LMBRD1):c.308-17A>G
|
|
|
NM_018368.4(LMBRD1):c.308-5C>T
|
|
|
NM_018368.4(LMBRD1):c.308-6C>T
|
|
|
NM_018368.4(LMBRD1):c.318T>G (p.Ser106=)
|
|
|
NM_018368.4(LMBRD1):c.327G>A (p.Leu109=)
|
|
|
NM_018368.4(LMBRD1):c.357C>T (p.Val119=)
|
rs2149877968
|
|
NM_018368.4(LMBRD1):c.378G>A (p.Lys126=)
|
|
|
NM_018368.4(LMBRD1):c.387T>C (p.Asp129=)
|
|
|
NM_018368.4(LMBRD1):c.393T>C (p.Thr131=)
|
|
|
NM_018368.4(LMBRD1):c.396T>C (p.Ser132=)
|
|
|
NM_018368.4(LMBRD1):c.405+17T>A
|
|
|
NM_018368.4(LMBRD1):c.405+18A>G
|
|
|
NM_018368.4(LMBRD1):c.405+19G>C
|
|
|
NM_018368.4(LMBRD1):c.405+9C>A
|
|
|
NM_018368.4(LMBRD1):c.406-18T>C
|
|
|
NM_018368.4(LMBRD1):c.406-8G>A
|
|
|
NM_018368.4(LMBRD1):c.417G>C (p.Thr139=)
|
|
|
NM_018368.4(LMBRD1):c.420A>C (p.Ala140=)
|
|
|
NM_018368.4(LMBRD1):c.420A>G (p.Ala140=)
|
|
|
NM_018368.4(LMBRD1):c.426G>A (p.Lys142=)
|
|
|
NM_018368.4(LMBRD1):c.456A>G (p.Ala152=)
|
|
|
NM_018368.4(LMBRD1):c.459G>T (p.Leu153=)
|
|
|
NM_018368.4(LMBRD1):c.462T>G (p.Leu154=)
|
|
|
NM_018368.4(LMBRD1):c.466T>C (p.Leu156=)
|
|
|
NM_018368.4(LMBRD1):c.473+10G>C
|
|
|
NM_018368.4(LMBRD1):c.473+11A>T
|
|
|
NM_018368.4(LMBRD1):c.474-16A>G
|
|
|
NM_018368.4(LMBRD1):c.474-4G>A
|
|
|
NM_018368.4(LMBRD1):c.474-6T>C
|
|
|
NM_018368.4(LMBRD1):c.486A>C (p.Pro162=)
|
|
|
NM_018368.4(LMBRD1):c.486A>G (p.Pro162=)
|
|
|
NM_018368.4(LMBRD1):c.48C>T (p.Cys16=)
|
|
|
NM_018368.4(LMBRD1):c.516A>G (p.Thr172=)
|
|
|
NM_018368.4(LMBRD1):c.538C>T (p.Leu180=)
|
|
|
NM_018368.4(LMBRD1):c.562+10G>T
|
|
|
NM_018368.4(LMBRD1):c.562+13T>C
|
|
|
NM_018368.4(LMBRD1):c.562+14T>G
|
|
|
NM_018368.4(LMBRD1):c.562+15T>C
|
|
|
NM_018368.4(LMBRD1):c.562+7A>G
|
|
|
NM_018368.4(LMBRD1):c.563-10T>G
|
|
|
NM_018368.4(LMBRD1):c.563-11T>C
|
rs1767012664
|
|
NM_018368.4(LMBRD1):c.563-15T>A
|
|
|
NM_018368.4(LMBRD1):c.563-18G>A
|
|
|
NM_018368.4(LMBRD1):c.563-19A>C
|
|
|
NM_018368.4(LMBRD1):c.563-19A>G
|
|
|
NM_018368.4(LMBRD1):c.563-20_563-19del
|
|
|
NM_018368.4(LMBRD1):c.563-6del
|
|
|
NM_018368.4(LMBRD1):c.577T>C (p.Leu193=)
|
|
|
NM_018368.4(LMBRD1):c.579G>A (p.Leu193=)
|
|
|
NM_018368.4(LMBRD1):c.57C>A (p.Gly19=)
|
|
|
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
|
rs1387756161
|
|
NM_018368.4(LMBRD1):c.60C>T (p.Leu20=)
|
rs2149901083
|
|
NM_018368.4(LMBRD1):c.624T>C (p.Ala208=)
|
|
|
NM_018368.4(LMBRD1):c.636+13G>A
|
|
|
NM_018368.4(LMBRD1):c.636+18A>G
|
|
|
NM_018368.4(LMBRD1):c.636+19A>C
|
|
|
NM_018368.4(LMBRD1):c.636+7G>T
|
|
|
NM_018368.4(LMBRD1):c.637-15T>A
|
|
|
NM_018368.4(LMBRD1):c.637-15T>C
|
|
|
NM_018368.4(LMBRD1):c.637-8T>C
|
|
|
NM_018368.4(LMBRD1):c.639C>T (p.Ala213=)
|
|
|
NM_018368.4(LMBRD1):c.654G>A (p.Ala218=)
|
|
|
NM_018368.4(LMBRD1):c.667C>T (p.Leu223=)
|
|
|
NM_018368.4(LMBRD1):c.687C>T (p.Ser229=)
|
|
|
NM_018368.4(LMBRD1):c.69+10G>T
|
|
|
NM_018368.4(LMBRD1):c.69+11C>G
|
|
|
NM_018368.4(LMBRD1):c.69+11C>T
|
|
|
NM_018368.4(LMBRD1):c.69+12G>A
|
|
|
NM_018368.4(LMBRD1):c.69+15T>C
|
|
|
NM_018368.4(LMBRD1):c.69+17G>C
|
|
|
NM_018368.4(LMBRD1):c.69+20T>C
|
|
|
NM_018368.4(LMBRD1):c.69+8dup
|
|
|
NM_018368.4(LMBRD1):c.69+9G>A
|
|
|
NM_018368.4(LMBRD1):c.6G>A (p.Ala2=)
|
rs753043203
|
|
NM_018368.4(LMBRD1):c.6G>T (p.Ala2=)
|
|
|
NM_018368.4(LMBRD1):c.70-20C>G
|
|
|
NM_018368.4(LMBRD1):c.720C>T (p.Asp240=)
|
|
|
NM_018368.4(LMBRD1):c.735A>G (p.Glu245=)
|
|
|
NM_018368.4(LMBRD1):c.75T>A (p.Ile25=)
|
|
|
NM_018368.4(LMBRD1):c.762+11G>A
|
|
|
NM_018368.4(LMBRD1):c.762+12T>C
|
|
|
NM_018368.4(LMBRD1):c.762+15T>C
|
|
|
NM_018368.4(LMBRD1):c.762+7T>G
|
|
|
NM_018368.4(LMBRD1):c.763-10T>C
|
|
|
NM_018368.4(LMBRD1):c.763-11G>C
|
|
|
NM_018368.4(LMBRD1):c.763-13C>A
|
|
|
NM_018368.4(LMBRD1):c.763-19T>G
|
|
|
NM_018368.4(LMBRD1):c.828A>G (p.Leu276=)
|
|
|
NM_018368.4(LMBRD1):c.844A>C (p.Arg282=)
|
|
|
NM_018368.4(LMBRD1):c.846A>G (p.Arg282=)
|
|
|
NM_018368.4(LMBRD1):c.876C>T (p.Ser292=)
|
|
|
NM_018368.4(LMBRD1):c.901C>T (p.Leu301=)
|
|
|
NM_018368.4(LMBRD1):c.910C>T (p.Leu304=)
|
|
|
NM_018368.4(LMBRD1):c.912G>A (p.Leu304=)
|
|
|
NM_018368.4(LMBRD1):c.915+16A>G
|
|
|
NM_018368.4(LMBRD1):c.915+16A>T
|
|
|
NM_018368.4(LMBRD1):c.915+18A>T
|
|
|
NM_018368.4(LMBRD1):c.915+19A>G
|
|
|
NM_018368.4(LMBRD1):c.916-13T>C
|
|
|
NM_018368.4(LMBRD1):c.916-7C>T
|
|
|
NM_018368.4(LMBRD1):c.936C>T (p.Phe312=)
|
|
|
NM_018368.4(LMBRD1):c.975G>A (p.Leu325=)
|
|
|
NM_018368.4(LMBRD1):c.980+10G>A
|
|
|
NM_018368.4(LMBRD1):c.980+13G>A
|
|
|
NM_018368.4(LMBRD1):c.980+14A>G
|
|
|
NM_018368.4(LMBRD1):c.980+15C>T
|
|
|
NM_018368.4(LMBRD1):c.981-10T>A
|
|
|
NM_018368.4(LMBRD1):c.981-10T>C
|
|
|
NM_018368.4(LMBRD1):c.981-17T>C
|
|
|
NM_018368.4(LMBRD1):c.981-4T>G
|
|
|
NM_018368.4(LMBRD1):c.981-4_981-3dup
|
|
|
NM_018368.4(LMBRD1):c.981-8T>A
|
|
|
NM_018368.4(LMBRD1):c.981-9T>A
|
rs2149844964
|
|
NM_018368.4(LMBRD1):c.990A>G (p.Lys330=)
|
|
|
NM_018368.4(LMBRD1):c.993T>G (p.Ala331=)
|
|
|
NM_018706.7(DHTKD1):c.1084T>C (p.Leu362=)
|
|
|
NM_018706.7(DHTKD1):c.1110C>T (p.Tyr370=)
|
|
|
NM_018706.7(DHTKD1):c.1141T>C (p.Leu381=)
|
|
|
NM_018706.7(DHTKD1):c.114C>T (p.Pro38=)
|
|
|
NM_018706.7(DHTKD1):c.1159+19A>G
|
|
|
NM_018706.7(DHTKD1):c.1160-13T>G
|
rs2131362514
|
|
NM_018706.7(DHTKD1):c.1160-18T>C
|
|
|
NM_018706.7(DHTKD1):c.1161G>A (p.Gly387=)
|
|
|
NM_018706.7(DHTKD1):c.1191C>G (p.Val397=)
|
rs758294466
|
|
NM_018706.7(DHTKD1):c.1233G>A (p.Leu411=)
|
|
|
NM_018706.7(DHTKD1):c.1245C>T (p.Tyr415=)
|
|
|
NM_018706.7(DHTKD1):c.1305C>T (p.His435=)
|
|
|
NM_018706.7(DHTKD1):c.1358+16C>T
|
|
|
NM_018706.7(DHTKD1):c.1407C>T (p.Gly469=)
|
rs80324702
|
|
NM_018706.7(DHTKD1):c.1428G>A (p.Glu476=)
|
|
|
NM_018706.7(DHTKD1):c.1458C>T (p.Ala486=)
|
|
|
NM_018706.7(DHTKD1):c.1461G>A (p.Lys487=)
|
|
|
NM_018706.7(DHTKD1):c.1479T>C (p.Asn493=)
|
|
|
NM_018706.7(DHTKD1):c.154+15C>T
|
|
|
NM_018706.7(DHTKD1):c.154+18G>A
|
|
|
NM_018706.7(DHTKD1):c.155-11C>T
|
|
|
NM_018706.7(DHTKD1):c.156T>C (p.Val52=)
|
rs1160225038
|
|
NM_018706.7(DHTKD1):c.1587C>T (p.Asp529=)
|
|
|
NM_018706.7(DHTKD1):c.1596G>A (p.Arg532=)
|
rs2131365440
|
|
NM_018706.7(DHTKD1):c.1617A>G (p.Val539=)
|
|
|
NM_018706.7(DHTKD1):c.1656G>A (p.Leu552=)
|
rs2131365510
|
|
NM_018706.7(DHTKD1):c.1662A>G (p.Thr554=)
|
|
|
NM_018706.7(DHTKD1):c.1671+14A>G
|
|
|
NM_018706.7(DHTKD1):c.1671+9C>G
|
|
|
NM_018706.7(DHTKD1):c.1672-20T>A
|
rs1275272258
|
|
NM_018706.7(DHTKD1):c.1672-20T>C
|
|
|
NM_018706.7(DHTKD1):c.1705C>T (p.Leu569=)
|
|
|
NM_018706.7(DHTKD1):c.1719C>T (p.Thr573=)
|
rs376488113
|
|
NM_018706.7(DHTKD1):c.1722G>A (p.Ala574=)
|
|
|
NM_018706.7(DHTKD1):c.1722G>C (p.Ala574=)
|
|
|
NM_018706.7(DHTKD1):c.1725A>G (p.Glu575=)
|
|
|
NM_018706.7(DHTKD1):c.1728T>G (p.Ala576=)
|
|
|
NM_018706.7(DHTKD1):c.1756+10T>G
|
|
|
NM_018706.7(DHTKD1):c.1756+12C>A
|
|
|
NM_018706.7(DHTKD1):c.1756+12C>G
|
|
|
NM_018706.7(DHTKD1):c.1756+12C>T
|
|
|
NM_018706.7(DHTKD1):c.1756+12del
|
rs371403192
|
|
NM_018706.7(DHTKD1):c.1756+13T>G
|
|
|
NM_018706.7(DHTKD1):c.1756+13_1756+14insATTTTTTTTCTGT
|
|
|
NM_018706.7(DHTKD1):c.1756+14_1756+15insGTTTTTTTGTGTTTTTTTTTTTTTT
|
|
|
NM_018706.7(DHTKD1):c.1756+18T>A
|
|
|
NM_018706.7(DHTKD1):c.1756+18T>C
|
|
|
NM_018706.7(DHTKD1):c.1756+20T>A
|
|
|
NM_018706.7(DHTKD1):c.1756+20_1756+21insCTGTTTTTTT
|
|
|
NM_018706.7(DHTKD1):c.1756+21_1756+22insCTGTTTTTTTTT
|
rs1554792993
|
|
NM_018706.7(DHTKD1):c.1756+21_1756+22insGGGTTTTTTTTTTTTTTTT
|
|
|
NM_018706.7(DHTKD1):c.1756+21_1756+22insGTGTTTTTT
|
|
|
NM_018706.7(DHTKD1):c.1756+22_1756+23insGGTGTTTTTTTTTTTTTTTTT
|
|
|
NM_018706.7(DHTKD1):c.1756+22_1756+23insTCTGTTTTTTTTTT
|
rs375494996
|
|
NM_018706.7(DHTKD1):c.1756+22_1756+23insTCTGTTTTTTTTTTT
|
|
|
NM_018706.7(DHTKD1):c.1756+23_1756+34del
|
|
|
NM_018706.7(DHTKD1):c.1756+23_1756+39del
|
|
|
NM_018706.7(DHTKD1):c.1756+7A>T
|
|
|
NM_018706.7(DHTKD1):c.1756+7_1756+8insATTTGTTTTTTTTTTTAGGTTTTTT
|
|
|
NM_018706.7(DHTKD1):c.1757-14dup
|
|
|
NM_018706.7(DHTKD1):c.1757-7G>A
|
|
|
NM_018706.7(DHTKD1):c.1764T>C (p.Asn588=)
|
|
|
NM_018706.7(DHTKD1):c.1824G>C (p.Val608=)
|
rs2131616416
|
|
NM_018706.7(DHTKD1):c.1845C>T (p.Asp615=)
|
|
|
NM_018706.7(DHTKD1):c.1872C>T (p.Asp624=)
|
|
|
NM_018706.7(DHTKD1):c.1884G>A (p.Lys628=)
|
rs535103210
|
|
NM_018706.7(DHTKD1):c.1893A>G (p.Leu631=)
|
|
|
NM_018706.7(DHTKD1):c.1896+14A>G
|
|
|
NM_018706.7(DHTKD1):c.1896+16A>G
|
|
|
NM_018706.7(DHTKD1):c.1896+19T>G
|
|
|
NM_018706.7(DHTKD1):c.1897-6G>C
|
|
|
NM_018706.7(DHTKD1):c.1899C>T (p.Val633=)
|
|
|
NM_018706.7(DHTKD1):c.1926C>G (p.Ala642=)
|
|
|
NM_018706.7(DHTKD1):c.1926C>T (p.Ala642=)
|
|
|
NM_018706.7(DHTKD1):c.1960A>T (p.Ser654Cys)
|
|
|
NM_018706.7(DHTKD1):c.1978C>T (p.Leu660=)
|
rs199541122
|
|
NM_018706.7(DHTKD1):c.2022C>T (p.Ile674=)
|
rs1457060881
|
|
NM_018706.7(DHTKD1):c.2047+13G>A
|
|
|
NM_018706.7(DHTKD1):c.2047+9C>T
|
|
|
NM_018706.7(DHTKD1):c.2048-15G>A
|
|
|
NM_018706.7(DHTKD1):c.2048-18C>T
|
|
|
NM_018706.7(DHTKD1):c.2048-32_2048-10del
|
rs1368208385
|
|
NM_018706.7(DHTKD1):c.2064C>T (p.Leu688=)
|
|
|
NM_018706.7(DHTKD1):c.2088C>T (p.Leu696=)
|
|
|
NM_018706.7(DHTKD1):c.2154+12G>A
|
|
|
NM_018706.7(DHTKD1):c.2154+18C>T
|
|
|
NM_018706.7(DHTKD1):c.2155-14C>T
|
|
|
NM_018706.7(DHTKD1):c.2178G>C (p.Gly726=)
|
|
|
NM_018706.7(DHTKD1):c.2229A>G (p.Ala743=)
|
|
|
NM_018706.7(DHTKD1):c.2238C>T (p.Phe746=)
|
|
|
NM_018706.7(DHTKD1):c.2319+11G>A
|
|
|
NM_018706.7(DHTKD1):c.2320-11C>T
|
|
|
NM_018706.7(DHTKD1):c.2320-12T>G
|
|
|
NM_018706.7(DHTKD1):c.2320-14C>G
|
|
|
NM_018706.7(DHTKD1):c.2320-9C>G
|
|
|
NM_018706.7(DHTKD1):c.2382T>C (p.Asp794=)
|
|
|
NM_018706.7(DHTKD1):c.2402+18_2402+19del
|
|
|
NM_018706.7(DHTKD1):c.2402+9T>C
|
|
|
NM_018706.7(DHTKD1):c.2403-16del
|
|
|
NM_018706.7(DHTKD1):c.2403-18T>C
|
rs2131628932
|
|
NM_018706.7(DHTKD1):c.2415C>T (p.Leu805=)
|
rs1460366028
|
|
NM_018706.7(DHTKD1):c.2430C>G (p.Gly810=)
|
|
|
NM_018706.7(DHTKD1):c.2445C>T (p.Ser815=)
|
rs1833467254
|
|
NM_018706.7(DHTKD1):c.2469G>A (p.Leu823=)
|
|
|
NM_018706.7(DHTKD1):c.2527T>C (p.Leu843=)
|
|
|
NM_018706.7(DHTKD1):c.2572+9T>C
|
|
|
NM_018706.7(DHTKD1):c.2573-12C>G
|
rs1399609087
|
|
NM_018706.7(DHTKD1):c.258G>A (p.Val86=)
|
|
|
NM_018706.7(DHTKD1):c.258G>T (p.Val86=)
|
|
|
NM_018706.7(DHTKD1):c.2613G>C (p.Pro871=)
|
|
|
NM_018706.7(DHTKD1):c.2619G>A (p.Ser873=)
|
|
|
NM_018706.7(DHTKD1):c.2634G>A (p.Arg878=)
|
|
|
NM_018706.7(DHTKD1):c.2649G>A (p.Leu883=)
|
|
|
NM_018706.7(DHTKD1):c.2658+10C>T
|
rs1833504194
|
|
NM_018706.7(DHTKD1):c.2658+11G>A
|
|
|
NM_018706.7(DHTKD1):c.2658+7A>C
|
|
|
NM_018706.7(DHTKD1):c.2659-11T>G
|
|
|
NM_018706.7(DHTKD1):c.2659-18_2659-16del
|
|
|
NM_018706.7(DHTKD1):c.2659-20C>A
|
|
|
NM_018706.7(DHTKD1):c.2659-3_2659-2del
|
rs761529786
|
|
NM_018706.7(DHTKD1):c.2727G>A (p.Gln909=)
|
|
|
NM_018706.7(DHTKD1):c.2751C>G (p.Thr917=)
|
|
|
NM_018706.7(DHTKD1):c.279G>A (p.Val93=)
|
|
|
NM_018706.7(DHTKD1):c.310+10C>T
|
|
|
NM_018706.7(DHTKD1):c.310+12G>A
|
|
|
NM_018706.7(DHTKD1):c.310+16A>C
|
rs1424663132
|
|
NM_018706.7(DHTKD1):c.315A>G (p.Leu105=)
|
rs1313880752
|
|
NM_018706.7(DHTKD1):c.36C>A (p.Gly12=)
|
rs972872618
|
|
NM_018706.7(DHTKD1):c.447G>A (p.Arg149=)
|
|
|
NM_018706.7(DHTKD1):c.447G>T (p.Arg149=)
|
|
|
NM_018706.7(DHTKD1):c.471G>A (p.Thr157=)
|
|
|
NM_018706.7(DHTKD1):c.486G>A (p.Glu162=)
|
|
|
NM_018706.7(DHTKD1):c.489A>C (p.Arg163=)
|
|
|
NM_018706.7(DHTKD1):c.501G>A (p.Ser167=)
|
|
|
NM_018706.7(DHTKD1):c.522+12C>A
|
|
|
NM_018706.7(DHTKD1):c.522+12C>T
|
|
|
NM_018706.7(DHTKD1):c.522+19G>C
|
|
|
NM_018706.7(DHTKD1):c.522+8G>A
|
|
|
NM_018706.7(DHTKD1):c.522+9G>T
|
|
|
NM_018706.7(DHTKD1):c.523-14A>T
|
|
|
NM_018706.7(DHTKD1):c.531C>T (p.Asp177=)
|
|
|
NM_018706.7(DHTKD1):c.543C>A (p.Ala181=)
|
rs774720865
|
|
NM_018706.7(DHTKD1):c.543C>T (p.Ala181=)
|
rs774720865
|
|
NM_018706.7(DHTKD1):c.606C>T (p.Phe202=)
|
|
|
NM_018706.7(DHTKD1):c.684T>C (p.Asn228=)
|
rs1564391006
|
|
NM_018706.7(DHTKD1):c.714A>G (p.Pro238=)
|
|
|
NM_018706.7(DHTKD1):c.717+13G>T
|
|
|
NM_018706.7(DHTKD1):c.717+16G>T
|
|
|
NM_018706.7(DHTKD1):c.718-15A>G
|
|
|
NM_018706.7(DHTKD1):c.718-7A>G
|
|
|
NM_018706.7(DHTKD1):c.765C>T (p.Phe255=)
|
|
|
NM_018706.7(DHTKD1):c.792C>T (p.His264=)
|
|
|
NM_018706.7(DHTKD1):c.819T>C (p.Phe273=)
|
|
|
NM_018706.7(DHTKD1):c.825G>A (p.Ala275=)
|
|
|
NM_018706.7(DHTKD1):c.837C>G (p.Leu279=)
|
|
|
NM_018706.7(DHTKD1):c.846A>C (p.Thr282=)
|
|
|
NM_018706.7(DHTKD1):c.846A>G (p.Thr282=)
|
|
|
NM_018706.7(DHTKD1):c.867C>T (p.His289=)
|
|
|
NM_018706.7(DHTKD1):c.868C>T (p.Leu290=)
|
|
|
NM_018706.7(DHTKD1):c.879C>G (p.Val293=)
|
|
|
NM_018706.7(DHTKD1):c.885C>T (p.Pro295=)
|
|
|
NM_018706.7(DHTKD1):c.891C>G (p.Ala297=)
|
rs576048100
|
|
NM_018706.7(DHTKD1):c.891C>T (p.Ala297=)
|
|
|
NM_018706.7(DHTKD1):c.909C>T (p.Gly303=)
|
|
|
NM_018706.7(DHTKD1):c.933C>T (p.Gly311=)
|
|
|
NM_018706.7(DHTKD1):c.963G>A (p.Pro321=)
|
rs377143488
|
|
NM_018706.7(DHTKD1):c.963G>C (p.Pro321=)
|
|
|
NM_018706.7(DHTKD1):c.963G>T (p.Pro321=)
|
|
|
NM_018706.7(DHTKD1):c.984A>G (p.Leu328=)
|
|
|
NM_020166.5(MCCC1):c.1020G>T (p.Leu340=)
|
|
|
NM_020166.5(MCCC1):c.1062C>T (p.Asp354=)
|
|
|
NM_020166.5(MCCC1):c.1068G>A (p.Val356=)
|
rs1175377728
|
|
NM_020166.5(MCCC1):c.1071G>A (p.Glu357=)
|
rs773029355
|
|
NM_020166.5(MCCC1):c.1080T>C (p.Leu360=)
|
rs2108486547
|
|
NM_020166.5(MCCC1):c.1083+16C>G
|
|
|
NM_020166.5(MCCC1):c.1083+9A>T
|
rs376902416
|
|
NM_020166.5(MCCC1):c.1084-6T>C
|
|
|
NM_020166.5(MCCC1):c.1084-8A>G
|
|
|
NM_020166.5(MCCC1):c.1089A>T (p.Ala363=)
|
|
|
NM_020166.5(MCCC1):c.108A>G (p.Gln36=)
|
rs1577367769
|
|
NM_020166.5(MCCC1):c.1108T>C (p.Leu370=)
|
rs777891780
|
|
NM_020166.5(MCCC1):c.1122A>G (p.Glu374=)
|
rs752061963
|
|
NM_020166.5(MCCC1):c.1143C>G (p.Ala381=)
|
|
|
NM_020166.5(MCCC1):c.1185C>T (p.Phe395=)
|
rs1285687401
|
|
NM_020166.5(MCCC1):c.1209G>C (p.Val403=)
|
rs1016870729
|
|
NM_020166.5(MCCC1):c.1215C>G (p.Leu405=)
|
|
|
NM_020166.5(MCCC1):c.1215C>T (p.Leu405=)
|
|
|
NM_020166.5(MCCC1):c.1236T>G (p.Pro412=)
|
rs1714087455
|
|
NM_020166.5(MCCC1):c.1243A>C (p.Arg415=)
|
|
|
NM_020166.5(MCCC1):c.1254T>C (p.Thr418=)
|
|
|
NM_020166.5(MCCC1):c.1260A>G (p.Val420=)
|
rs2108478875
|
|
NM_020166.5(MCCC1):c.1267+15A>G
|
|
|
NM_020166.5(MCCC1):c.1267+9A>G
|
rs2108478831
|
|
NM_020166.5(MCCC1):c.1268-18C>T
|
|
|
NM_020166.5(MCCC1):c.1268-18del
|
|
|
NM_020166.5(MCCC1):c.1268-19C>A
|
|
|
NM_020166.5(MCCC1):c.1268-20A>C
|
|
|
NM_020166.5(MCCC1):c.1268-6T>C
|
|
|
NM_020166.5(MCCC1):c.12C>T (p.Ala4=)
|
|
|
NM_020166.5(MCCC1):c.1305G>A (p.Ala435=)
|
rs759359909
|
|
NM_020166.5(MCCC1):c.1317G>A (p.Val439=)
|
rs1713855580
|
|
NM_020166.5(MCCC1):c.1326A>C (p.Ala442=)
|
|
|
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=)
|
rs1345111200
|
|
NM_020166.5(MCCC1):c.136+18T>A
|
|
|
NM_020166.5(MCCC1):c.136+18T>G
|
|
|
NM_020166.5(MCCC1):c.136+8C>G
|
|
|
NM_020166.5(MCCC1):c.136+9A>G
|
|
|
NM_020166.5(MCCC1):c.1368T>G (p.Arg456=)
|
|
|
NM_020166.5(MCCC1):c.137-15T>C
|
|
|
NM_020166.5(MCCC1):c.137-18dup
|
|
|
NM_020166.5(MCCC1):c.137-7T>A
|
|
|
NM_020166.5(MCCC1):c.1377+16C>A
|
|
|
NM_020166.5(MCCC1):c.1378-17G>C
|
|
|
NM_020166.5(MCCC1):c.138A>C (p.Gly46=)
|
rs2108566202
|
|
NM_020166.5(MCCC1):c.138A>G (p.Gly46=)
|
|
|
NM_020166.5(MCCC1):c.1399A>G (p.Ile467Val)
|
|
|
NM_020166.5(MCCC1):c.139A>C (p.Arg47=)
|
|
|
NM_020166.5(MCCC1):c.1404C>T (p.Asp468=)
|
|
|
NM_020166.5(MCCC1):c.1407C>T (p.Phe469=)
|
|
|
NM_020166.5(MCCC1):c.1410A>G (p.Leu470=)
|
rs2108470855
|
|
NM_020166.5(MCCC1):c.1416C>T (p.Asn472=)
|
rs1560219940
|
|
NM_020166.5(MCCC1):c.1417C>T (p.Leu473=)
|
rs565662458
|
|
NM_020166.5(MCCC1):c.1428C>T (p.His476=)
|
|
|
NM_020166.5(MCCC1):c.1449C>T (p.Asn483=)
|
rs200216718
|
|
NM_020166.5(MCCC1):c.1452G>T (p.Val484=)
|
|
|
NM_020166.5(MCCC1):c.1458T>C (p.Thr486=)
|
rs1351299439
|
|
NM_020166.5(MCCC1):c.1464C>T (p.Phe488=)
|
|
|
NM_020166.5(MCCC1):c.1467C>T (p.Ile489=)
|
|
|
NM_020166.5(MCCC1):c.1482A>G (p.Lys494=)
|
|
|
NM_020166.5(MCCC1):c.1494C>T (p.Leu498=)
|
|
|
NM_020166.5(MCCC1):c.1498C>A (p.Arg500=)
|
|
|
NM_020166.5(MCCC1):c.1506T>C (p.Ala502=)
|
|
|
NM_020166.5(MCCC1):c.1509A>C (p.Ala503=)
|
|
|
NM_020166.5(MCCC1):c.1512C>T (p.Ala504=)
|
rs2108470530
|
|
NM_020166.5(MCCC1):c.1539G>C (p.Leu513=)
|
rs1713694212
|
|
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)
|
rs563586657
|
|
NM_020166.5(MCCC1):c.156C>T (p.Val52=)
|
rs398124353
|
|
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn)
|
rs200031275
|
|
NM_020166.5(MCCC1):c.1587G>A (p.Gln529=)
|
|
|
NM_020166.5(MCCC1):c.1594+10G>T
|
|
|
NM_020166.5(MCCC1):c.1594+12T>A
|
|
|
NM_020166.5(MCCC1):c.1594+12T>C
|
|
|
NM_020166.5(MCCC1):c.1594+9G>A
|
|
|
NM_020166.5(MCCC1):c.1614G>T (p.Ser538=)
|
rs34749281
|
|
NM_020166.5(MCCC1):c.1681+10G>A
|
|
|
NM_020166.5(MCCC1):c.1681+13T>C
|
|
|
NM_020166.5(MCCC1):c.1681+7A>G
|
|
|
NM_020166.5(MCCC1):c.1681+9T>C
|
rs2108461619
|
|
NM_020166.5(MCCC1):c.1682-12T>C
|
|
|
NM_020166.5(MCCC1):c.1682-16C>T
|
|
|
NM_020166.5(MCCC1):c.1682-6A>C
|
|
|
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=)
|
rs1577245424
|
|
NM_020166.5(MCCC1):c.1701G>T (p.Thr567=)
|
|
|
NM_020166.5(MCCC1):c.1725C>T (p.Ser575=)
|
|
|
NM_020166.5(MCCC1):c.1731+7C>T
|
|
|
NM_020166.5(MCCC1):c.1734T>C (p.Ile578=)
|
|
|
NM_020166.5(MCCC1):c.1749C>T (p.Phe583=)
|
rs2108441668
|
|
NM_020166.5(MCCC1):c.1761T>C (p.Gly587=)
|
rs2108441635
|
|
NM_020166.5(MCCC1):c.1779A>G (p.Gly593=)
|
|
|
NM_020166.5(MCCC1):c.1788T>C (p.Thr596=)
|
|
|
NM_020166.5(MCCC1):c.1800T>C (p.Cys600=)
|
rs2108441478
|
|
NM_020166.5(MCCC1):c.1833G>A (p.Leu611=)
|
rs747354023
|
|
NM_020166.5(MCCC1):c.1839C>T (p.Ile613=)
|
|
|
NM_020166.5(MCCC1):c.1840C>T (p.Leu614=)
|
rs2108441402
|
|
NM_020166.5(MCCC1):c.1848C>T (p.Asn616=)
|
|
|
NM_020166.5(MCCC1):c.1869+7T>A
|
rs2108441301
|
|
NM_020166.5(MCCC1):c.1869+9T>C
|
|
|
NM_020166.5(MCCC1):c.1870-18T>C
|
|
|
NM_020166.5(MCCC1):c.1870-18_1870-16dup
|
|
|
NM_020166.5(MCCC1):c.1875A>C (p.Gly625=)
|
|
|
NM_020166.5(MCCC1):c.1917T>C (p.Ser639=)
|
|
|
NM_020166.5(MCCC1):c.1977+13C>T
|
|
|
NM_020166.5(MCCC1):c.1977+7A>G
|
rs2108437702
|
|
NM_020166.5(MCCC1):c.1977+9A>G
|
rs1712027129
|
|
NM_020166.5(MCCC1):c.1977+9A>T
|
|
|
NM_020166.5(MCCC1):c.1978-8del
|
rs747001867
|
|
NM_020166.5(MCCC1):c.1989A>G (p.Lys663=)
|
|
|
NM_020166.5(MCCC1):c.198C>T (p.Arg66=)
|
|
|
NM_020166.5(MCCC1):c.2010G>T (p.Ala670=)
|
|
|
NM_020166.5(MCCC1):c.2049+15A>C
|
|
|
NM_020166.5(MCCC1):c.2049+9A>G
|
rs1711715793
|
|
NM_020166.5(MCCC1):c.2050-15C>T
|
|
|
NM_020166.5(MCCC1):c.2050-19C>T
|
|
|
NM_020166.5(MCCC1):c.2050-6_2050-5del
|
rs780558586
|
|
NM_020166.5(MCCC1):c.2079A>T (p.Thr693=)
|
rs1203426656
|
|
NM_020166.5(MCCC1):c.207A>G (p.Lys69=)
|
rs1718434052
|
|
NM_020166.5(MCCC1):c.2091G>A (p.Val697=)
|
|
|
NM_020166.5(MCCC1):c.2094C>T (p.Phe698=)
|
|
|
NM_020166.5(MCCC1):c.2160C>T (p.Asp720=)
|
|
|
NM_020166.5(MCCC1):c.2163A>G (p.Lys721=)
|
|
|
NM_020166.5(MCCC1):c.2172G>C (p.Ser724=)
|
rs781286566
|
|
NM_020166.5(MCCC1):c.219A>C (p.Val73=)
|
rs1280526570
|
|
NM_020166.5(MCCC1):c.219A>G (p.Val73=)
|
|
|
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)
|
rs144230304
|
|
NM_020166.5(MCCC1):c.231G>T (p.Ala77=)
|
rs144230304
|
|
NM_020166.5(MCCC1):c.24G>T (p.Ser8=)
|
|
|
NM_020166.5(MCCC1):c.258C>T (p.Ser86=)
|
|
|
NM_020166.5(MCCC1):c.264T>C (p.His88=)
|
|
|
NM_020166.5(MCCC1):c.274-18G>A
|
|
|
NM_020166.5(MCCC1):c.274-20A>G
|
|
|
NM_020166.5(MCCC1):c.285A>G (p.Ala95=)
|
|
|
NM_020166.5(MCCC1):c.297C>T (p.Gly99=)
|
|
|
NM_020166.5(MCCC1):c.300C>A (p.Pro100=)
|
|
|
NM_020166.5(MCCC1):c.300C>G (p.Pro100=)
|
rs747409426
|
|
NM_020166.5(MCCC1):c.336A>G (p.Lys112=)
|
rs1204945524
|
|
NM_020166.5(MCCC1):c.33G>C (p.Leu11=)
|
|
|
NM_020166.5(MCCC1):c.342T>C (p.Ile114=)
|
rs2108553502
|
|
NM_020166.5(MCCC1):c.369+12G>A
|
|
|
NM_020166.5(MCCC1):c.369+14A>G
|
|
|
NM_020166.5(MCCC1):c.370-4C>A
|
|
|
NM_020166.5(MCCC1):c.411A>G (p.Glu137=)
|
rs2108528534
|
|
NM_020166.5(MCCC1):c.423T>G (p.Leu141=)
|
rs2108528517
|
|
NM_020166.5(MCCC1):c.462A>G (p.Pro154=)
|
rs1010978187
|
|
NM_020166.5(MCCC1):c.491+10T>C
|
|
|
NM_020166.5(MCCC1):c.491+13A>G
|
|
|
NM_020166.5(MCCC1):c.491+14T>G
|
|
|
NM_020166.5(MCCC1):c.491+8T>C
|
|
|
NM_020166.5(MCCC1):c.492-11C>G
|
|
|
NM_020166.5(MCCC1):c.492-16C>A
|
|
|
NM_020166.5(MCCC1):c.495A>G (p.Thr165=)
|
|
|
NM_020166.5(MCCC1):c.498C>T (p.Ser166=)
|
|
|
NM_020166.5(MCCC1):c.519T>C (p.Ala173=)
|
rs2108526654
|
|
NM_020166.5(MCCC1):c.51C>T (p.Asn17=)
|
rs557695078
|
|
NM_020166.5(MCCC1):c.561A>G (p.Ser187=)
|
|
|
NM_020166.5(MCCC1):c.582C>T (p.His194=)
|
|
|
NM_020166.5(MCCC1):c.588G>A (p.Arg196=)
|
rs1716663064
|
|
NM_020166.5(MCCC1):c.603T>G (p.Pro201=)
|
|
|
NM_020166.5(MCCC1):c.622C>A (p.Arg208=)
|
rs759345755
|
|
NM_020166.5(MCCC1):c.627T>G (p.Gly209=)
|
|
|
NM_020166.5(MCCC1):c.639+11G>T
|
rs1716653818
|
|
NM_020166.5(MCCC1):c.639+11_639+12insTTCTTTTGGCAAAAACAAAAA
|
rs1716653595
|
|
NM_020166.5(MCCC1):c.639+16C>G
|
|
|
NM_020166.5(MCCC1):c.639+16_639+17insCCACACACACAT
|
|
|
NM_020166.5(MCCC1):c.639+7T>G
|
|
|
NM_020166.5(MCCC1):c.639+8T>G
|
|
|
NM_020166.5(MCCC1):c.639+9G>A
|
|
|
NM_020166.5(MCCC1):c.640-10T>C
|
rs1011275855
|
|
NM_020166.5(MCCC1):c.640-16A>G
|
|
|
NM_020166.5(MCCC1):c.640-5C>A
|
rs892786406
|
|
NM_020166.5(MCCC1):c.640-7C>G
|
rs1414857427
|
|
NM_020166.5(MCCC1):c.648G>A (p.Arg216=)
|
rs2108526043
|
|
NM_020166.5(MCCC1):c.660A>C (p.Ser220=)
|
rs2108526023
|
|
NM_020166.5(MCCC1):c.66C>G (p.Leu22=)
|
rs750778690
|
|
NM_020166.5(MCCC1):c.678A>G (p.Glu226=)
|
rs1577328315
|
|
NM_020166.5(MCCC1):c.696G>A (p.Arg232=)
|
|
|
NM_020166.5(MCCC1):c.699A>G (p.Arg233=)
|
|
|
NM_020166.5(MCCC1):c.69G>A (p.Pro23=)
|
rs567116244
|
|
NM_020166.5(MCCC1):c.69G>C (p.Pro23=)
|
rs567116244
|
|
NM_020166.5(MCCC1):c.729T>C (p.Ala243=)
|
rs886058208
|
|
NM_020166.5(MCCC1):c.738C>A (p.Ile246=)
|
rs766095348
|
|
NM_020166.5(MCCC1):c.738C>T (p.Ile246=)
|
rs766095348
|
|
NM_020166.5(MCCC1):c.75G>A (p.Leu25=)
|
|
|
NM_020166.5(MCCC1):c.762-13del
|
|
|
NM_020166.5(MCCC1):c.762-9T>C
|
rs2108505742
|
|
NM_020166.5(MCCC1):c.768A>G (p.Val256=)
|
rs567236851
|
|
NM_020166.5(MCCC1):c.786T>G (p.Gly262=)
|
|
|
NM_020166.5(MCCC1):c.79C>T (p.Leu27=)
|
|
|
NM_020166.5(MCCC1):c.804T>C (p.Ala268=)
|
|
|
NM_020166.5(MCCC1):c.813G>A (p.Leu271=)
|
|
|
NM_020166.5(MCCC1):c.81G>A (p.Leu27=)
|
rs1439662567
|
|
NM_020166.5(MCCC1):c.84G>A (p.Pro28=)
|
|
|
NM_020166.5(MCCC1):c.864G>A (p.Glu288=)
|
|
|
NM_020166.5(MCCC1):c.867C>A (p.Ala289=)
|
rs2108505485
|
|
NM_020166.5(MCCC1):c.870A>G (p.Pro290=)
|
|
|
NM_020166.5(MCCC1):c.873+16A>G
|
|
|
NM_020166.5(MCCC1):c.873+17G>C
|
|
|
NM_020166.5(MCCC1):c.873+17G>T
|
|
|
NM_020166.5(MCCC1):c.874-13A>T
|
|
|
NM_020166.5(MCCC1):c.874-15A>T
|
|
|
NM_020166.5(MCCC1):c.874-18T>A
|
|
|
NM_020166.5(MCCC1):c.874-4A>G
|
|
|
NM_020166.5(MCCC1):c.879T>G (p.Gly293=)
|
|
|
NM_020166.5(MCCC1):c.87G>A (p.Pro29=)
|
rs1383349919
|
|
NM_020166.5(MCCC1):c.89+12G>A
|
|
|
NM_020166.5(MCCC1):c.89+16A>G
|
|
|
NM_020166.5(MCCC1):c.89+17T>C
|
|
|
NM_020166.5(MCCC1):c.89+8G>A
|
|
|
NM_020166.5(MCCC1):c.897A>G (p.Arg299=)
|
|
|
NM_020166.5(MCCC1):c.90-12T>C
|
|
|
NM_020166.5(MCCC1):c.90-19T>G
|
|
|
NM_020166.5(MCCC1):c.90-5T>C
|
|
|
NM_020166.5(MCCC1):c.90-7G>A
|
rs1490296486
|
|
NM_020166.5(MCCC1):c.948T>G (p.Val316=)
|
|
|
NM_020166.5(MCCC1):c.955+10G>T
|
rs1004658113
|
|
NM_020166.5(MCCC1):c.955+16C>T
|
|
|
NM_020166.5(MCCC1):c.956-15T>C
|
|
|
NM_020166.5(MCCC1):c.956-19A>G
|
|
|
NM_020166.5(MCCC1):c.956-7C>G
|
|
|
NM_020166.5(MCCC1):c.956-8C>T
|
rs1577284365
|
|
NM_020166.5(MCCC1):c.969T>C (p.Phe323=)
|
rs2108486797
|
|
NM_020166.5(MCCC1):c.981A>C (p.Ser327=)
|
|
|
NM_020166.5(MCCC1):c.99G>A (p.Val33=)
|
rs1718607448
|
|
NM_020686.6(ABAT):c.1036C>T (p.Leu346=)
|
|
|
NM_020686.6(ABAT):c.1047A>G (p.Pro349=)
|
rs761184958
|
|
NM_020686.6(ABAT):c.108C>T (p.Asp36=)
|
rs751650520
|
|
NM_020686.6(ABAT):c.1122+11G>C
|
|
|
NM_020686.6(ABAT):c.1122+12C>T
|
|
|
NM_020686.6(ABAT):c.1123-14G>A
|
rs758870080
|
|
NM_020686.6(ABAT):c.1123-14G>T
|
|
|
NM_020686.6(ABAT):c.1123-15C>G
|
rs376574278
|
|
NM_020686.6(ABAT):c.1123-18A>G
|
|
|
NM_020686.6(ABAT):c.1123-20A>C
|
|
|
NM_020686.6(ABAT):c.1125C>T (p.Pro375=)
|
|
|
NM_020686.6(ABAT):c.1140C>T (p.Asn380=)
|
rs770156912
|
|
NM_020686.6(ABAT):c.1152G>T (p.Gly384=)
|
|
|
NM_020686.6(ABAT):c.1158G>T (p.Pro386=)
|
|
|
NM_020686.6(ABAT):c.1168C>T (p.Leu390=)
|
|
|
NM_020686.6(ABAT):c.1170G>C (p.Leu390=)
|
|
|
NM_020686.6(ABAT):c.1170G>T (p.Leu390=)
|
rs1216400203
|
|
NM_020686.6(ABAT):c.1182G>A (p.Glu394=)
|
|
|
NM_020686.6(ABAT):c.1194C>T (p.Ile398=)
|
|
|
NM_020686.6(ABAT):c.1210C>T (p.Leu404=)
|
rs1256407713
|
|
NM_020686.6(ABAT):c.1227C>A (p.Ala409=)
|
|
|
NM_020686.6(ABAT):c.1233C>A (p.Ala411=)
|
|
|
NM_020686.6(ABAT):c.1233C>G (p.Ala411=)
|
rs147188899
|
|
NM_020686.6(ABAT):c.1233C>T (p.Ala411=)
|
rs147188899
|
|
NM_020686.6(ABAT):c.1248C>T (p.Leu416=)
|
|
|
NM_020686.6(ABAT):c.1260G>A (p.Leu420=)
|
|
|
NM_020686.6(ABAT):c.1269+18G>A
|
rs1567317709
|
|
NM_020686.6(ABAT):c.1269+20C>T
|
|
|
NM_020686.6(ABAT):c.1269+9C>G
|
rs2142998394
|
|
NM_020686.6(ABAT):c.1270-11T>C
|
|
|
NM_020686.6(ABAT):c.1270-17G>T
|
|
|
NM_020686.6(ABAT):c.1270-19T>G
|
|
|
NM_020686.6(ABAT):c.1293C>T (p.Ser431=)
|
rs2143002708
|
|
NM_020686.6(ABAT):c.1296G>A (p.Arg432=)
|
|
|
NM_020686.6(ABAT):c.1323C>T (p.Ser441=)
|
rs1233713916
|
|
NM_020686.6(ABAT):c.1326C>T (p.Phe442=)
|
rs201566019
|
|
NM_020686.6(ABAT):c.1338T>C (p.Asp446=)
|
rs756005421
|
|
NM_020686.6(ABAT):c.1344C>T (p.Ser448=)
|
rs2143002825
|
|
NM_020686.6(ABAT):c.135G>A (p.Leu45=)
|
|
|
NM_020686.6(ABAT):c.1368T>A (p.Ile456=)
|
|
|
NM_020686.6(ABAT):c.1374A>G (p.Arg458=)
|
|
|
NM_020686.6(ABAT):c.1382-10C>T
|
rs2060432035
|
|
NM_020686.6(ABAT):c.1382-16C>T
|
|
|
NM_020686.6(ABAT):c.1382-9C>T
|
rs1404962969
|
|
NM_020686.6(ABAT):c.1389G>A (p.Val463=)
|
rs2060432508
|
|
NM_020686.6(ABAT):c.13T>C (p.Leu5=)
|
rs2058905642
|
|
NM_020686.6(ABAT):c.1425T>A (p.Arg475=)
|
|
|
NM_020686.6(ABAT):c.144G>A (p.Thr48=)
|
rs777699903
|
|
NM_020686.6(ABAT):c.144G>T (p.Thr48=)
|
rs777699903
|
|
NM_020686.6(ABAT):c.1461G>A (p.Leu487=)
|
|
|
NM_020686.6(ABAT):c.1491A>C (p.Ala497=)
|
rs1290355155
|
|
NM_020686.6(ABAT):c.150C>T (p.Val50=)
|
rs2142624986
|
|
NM_020686.6(ABAT):c.168+18G>C
|
|
|
NM_020686.6(ABAT):c.168+20G>T
|
|
|
NM_020686.6(ABAT):c.169-13T>A
|
rs754077432
|
|
NM_020686.6(ABAT):c.169-14_169-12del
|
rs1470661184
|
|
NM_020686.6(ABAT):c.169-5_169-4inv
|
|
|
NM_020686.6(ABAT):c.169-8G>C
|
rs2059383863
|
|
NM_020686.6(ABAT):c.186G>C (p.Leu62=)
|
|
|
NM_020686.6(ABAT):c.186G>T (p.Leu62=)
|
|
|
NM_020686.6(ABAT):c.198+10G>A
|
rs748922986
|
|
NM_020686.6(ABAT):c.198+16G>A
|
|
|
NM_020686.6(ABAT):c.198+23_198+27del
|
rs1357421251
|
|
NM_020686.6(ABAT):c.198+7G>A
|
|
|
NM_020686.6(ABAT):c.198+9_198+10insT
|
|
|
NM_020686.6(ABAT):c.199-13T>C
|
|
|
NM_020686.6(ABAT):c.199-18G>A
|
|
|
NM_020686.6(ABAT):c.199-6T>C
|
|
|
NM_020686.6(ABAT):c.228T>C (p.Asn76=)
|
|
|
NM_020686.6(ABAT):c.264G>A (p.Val88=)
|
|
|
NM_020686.6(ABAT):c.303C>T (p.Ser101=)
|
|
|
NM_020686.6(ABAT):c.316+12G>C
|
|
|
NM_020686.6(ABAT):c.316+15A>G
|
|
|
NM_020686.6(ABAT):c.316+7G>C
|
rs2142726854
|
|
NM_020686.6(ABAT):c.316+9T>C
|
rs1596454454
|
|
NM_020686.6(ABAT):c.317-15C>T
|
|
|
NM_020686.6(ABAT):c.317-18dup
|
|
|
NM_020686.6(ABAT):c.317-5C>G
|
rs781499078
|
|
NM_020686.6(ABAT):c.317-5C>T
|
rs781499078
|
|
NM_020686.6(ABAT):c.317-7C>T
|
|
|
NM_020686.6(ABAT):c.327C>T (p.His109=)
|
rs1393125718
|
|
NM_020686.6(ABAT):c.345C>T (p.Leu115=)
|
|
|
NM_020686.6(ABAT):c.367-11C>A
|
rs368243612
|
|
NM_020686.6(ABAT):c.367-15C>G
|
rs2142919190
|
|
NM_020686.6(ABAT):c.36C>T (p.Cys12=)
|
|
|
NM_020686.6(ABAT):c.378C>T (p.Val126=)
|
|
|
NM_020686.6(ABAT):c.417T>C (p.Phe139=)
|
rs2142919912
|
|
NM_020686.6(ABAT):c.420G>A (p.Val140=)
|
rs1596464284
|
|
NM_020686.6(ABAT):c.432G>C (p.Arg144=)
|
rs974152356
|
|
NM_020686.6(ABAT):c.439T>C (p.Leu147=)
|
|
|
NM_020686.6(ABAT):c.444C>G (p.Leu148=)
|
|
|
NM_020686.6(ABAT):c.447+12A>T
|
rs2142920603
|
|
NM_020686.6(ABAT):c.447+15A>G
|
|
|
NM_020686.6(ABAT):c.447+17C>A
|
rs376401008
|
|
NM_020686.6(ABAT):c.447+17C>T
|
rs376401008
|
|
NM_020686.6(ABAT):c.447+20T>A
|
|
|
NM_020686.6(ABAT):c.448-10C>A
|
|
|
NM_020686.6(ABAT):c.448-11C>T
|
|
|
NM_020686.6(ABAT):c.448-18C>A
|
|
|
NM_020686.6(ABAT):c.448-5C>T
|
rs374659543
|
|
NM_020686.6(ABAT):c.45G>A (p.Gln15=)
|
|
|
NM_020686.6(ABAT):c.471G>A (p.Gln157=)
|
rs762337644
|
|
NM_020686.6(ABAT):c.501C>T (p.Ser167=)
|
rs753562528
|
|
NM_020686.6(ABAT):c.513C>T (p.Ala171=)
|
|
|
NM_020686.6(ABAT):c.522C>T (p.Thr174=)
|
|
|
NM_020686.6(ABAT):c.540+14CA[14]
|
rs35745596
|
|
NM_020686.6(ABAT):c.540+14CA[15]
|
rs35745596
|
|
NM_020686.6(ABAT):c.540+14CA[16]
|
rs35745596
|
|
NM_020686.6(ABAT):c.540+14CA[6]
|
rs35745596
|
|
NM_020686.6(ABAT):c.540+14CA[7]
|
rs35745596
|
|
NM_020686.6(ABAT):c.540+14CA[8]
|
rs35745596
|
|
NM_020686.6(ABAT):c.540+14CA[9]
|
rs35745596
|
|
NM_020686.6(ABAT):c.540+16C>A
|
|
|
NM_020686.6(ABAT):c.540+17A>G
|
|
|
NM_020686.6(ABAT):c.540+8T>C
|
rs762214989
|
|
NM_020686.6(ABAT):c.541-15G>C
|
rs779730449
|
|
NM_020686.6(ABAT):c.541-5T>C
|
|
|
NM_020686.6(ABAT):c.558G>A (p.Gln186=)
|
|
|
NM_020686.6(ABAT):c.57C>T (p.Arg19=)
|
rs1428203927
|
|
NM_020686.6(ABAT):c.585G>A (p.Glu195=)
|
rs2142947004
|
|
NM_020686.6(ABAT):c.588G>C (p.Thr196=)
|
|
|
NM_020686.6(ABAT):c.603+15G>C
|
rs1385658702
|
|
NM_020686.6(ABAT):c.603+19G>A
|
|
|
NM_020686.6(ABAT):c.604-17A>T
|
|
|
NM_020686.6(ABAT):c.604-18G>C
|
|
|
NM_020686.6(ABAT):c.604-6T>A
|
|
|
NM_020686.6(ABAT):c.604-7G>A
|
rs777269086
|
|
NM_020686.6(ABAT):c.606C>T (p.Ala202=)
|
rs1555492234
|
|
NM_020686.6(ABAT):c.612C>A (p.Gly204=)
|
|
|
NM_020686.6(ABAT):c.615C>T (p.Cys205=)
|
|
|
NM_020686.6(ABAT):c.618C>G (p.Pro206=)
|
rs373357773
|
|
NM_020686.6(ABAT):c.630C>T (p.Ile210=)
|
|
|
NM_020686.6(ABAT):c.645C>A (p.Gly215=)
|
rs1139522
|
|
NM_020686.6(ABAT):c.660G>A (p.Arg220=)
|
|
|
NM_020686.6(ABAT):c.667+13C>T
|
|
|
NM_020686.6(ABAT):c.667+15T>G
|
|
|
NM_020686.6(ABAT):c.667+19G>A
|
rs546406644
|
|
NM_020686.6(ABAT):c.667+7A>C
|
|
|
NM_020686.6(ABAT):c.667+7_667+8dup
|
rs748783252
|
|
NM_020686.6(ABAT):c.66G>A (p.Val22=)
|
|
|
NM_020686.6(ABAT):c.678G>C (p.Ala226=)
|
rs112564762
|
|
NM_020686.6(ABAT):c.70+13G>C
|
|
|
NM_020686.6(ABAT):c.70+14G>A
|
|
|
NM_020686.6(ABAT):c.70+16C>T
|
|
|
NM_020686.6(ABAT):c.70+7C>T
|
rs1350929505
|
|
NM_020686.6(ABAT):c.70+9C>G
|
|
|
NM_020686.6(ABAT):c.71-10T>C
|
|
|
NM_020686.6(ABAT):c.71-12del
|
rs781324531
|
|
NM_020686.6(ABAT):c.71-19T>C
|
rs2142622264
|
|
NM_020686.6(ABAT):c.71-4G>A
|
|
|
NM_020686.6(ABAT):c.732C>G (p.Pro244=)
|
rs2060021356
|
|
NM_020686.6(ABAT):c.748C>A (p.Arg250=)
|
|
|
NM_020686.6(ABAT):c.751C>T (p.Leu251=)
|
|
|
NM_020686.6(ABAT):c.759C>T (p.Tyr253=)
|
rs2060022284
|
|
NM_020686.6(ABAT):c.763C>T (p.Leu255=)
|
|
|
NM_020686.6(ABAT):c.798G>A (p.Glu266=)
|
|
|
NM_020686.6(ABAT):c.816+12A>G
|
|
|
NM_020686.6(ABAT):c.816+16T>C
|
|
|
NM_020686.6(ABAT):c.816+9C>G
|
|
|
NM_020686.6(ABAT):c.817-13C>T
|
|
|
NM_020686.6(ABAT):c.817-16C>T
|
|
|
NM_020686.6(ABAT):c.817-18_817-17del
|
|
|
NM_020686.6(ABAT):c.817-20C>T
|
rs2142993666
|
|
NM_020686.6(ABAT):c.834G>A (p.Val278=)
|
rs905413679
|
|
NM_020686.6(ABAT):c.879G>A (p.Glu293=)
|
|
|
NM_020686.6(ABAT):c.882C>T (p.Pro294=)
|
rs2060153469
|
|
NM_020686.6(ABAT):c.885C>T (p.Ile295=)
|
rs2142993787
|
|
NM_020686.6(ABAT):c.891C>G (p.Ser297=)
|
rs142228298
|
|
NM_020686.6(ABAT):c.891C>T (p.Ser297=)
|
rs142228298
|
|
NM_020686.6(ABAT):c.915C>T (p.Ser305=)
|
|
|
NM_020686.6(ABAT):c.936G>A (p.Leu312=)
|
rs1596470421
|
|
NM_020686.6(ABAT):c.945C>A (p.Ile315=)
|
|
|
NM_020686.6(ABAT):c.945C>T (p.Ile315=)
|
rs368667677
|
|
NM_020686.6(ABAT):c.954+10C>G
|
|
|
NM_020686.6(ABAT):c.954+13G>T
|
|
|
NM_020686.6(ABAT):c.954+14G>A
|
rs2060156324
|
|
NM_020686.6(ABAT):c.954+15C>A
|
|
|
NM_020686.6(ABAT):c.954+15C>T
|
rs748546258
|
|
NM_020686.6(ABAT):c.954+8G>A
|
|
|
NM_020686.6(ABAT):c.955-13C>A
|
rs749756374
|
|
NM_020686.6(ABAT):c.955-15C>T
|
rs778033706
|
|
NM_020686.6(ABAT):c.955-4C>G
|
rs774347728
|
|
NM_020686.6(ABAT):c.955-8C>A
|
|
|
NM_020686.6(ABAT):c.96A>C (p.Ala32=)
|
rs2059317913
|
|
NM_020686.6(ABAT):c.970T>C (p.Leu324=)
|
|
|
NM_022132.5(MCCC2):c.1000-17G>A
|
|
|
NM_022132.5(MCCC2):c.1014C>A (p.Ile338=)
|
rs760703487
|
|
NM_022132.5(MCCC2):c.1072+12A>T
|
|
|
NM_022132.5(MCCC2):c.1072+14G>A
|
|
|
NM_022132.5(MCCC2):c.1072+17T>C
|
|
|
NM_022132.5(MCCC2):c.1072+9G>A
|
rs779091338
|
|
NM_022132.5(MCCC2):c.1122A>G (p.Gly374=)
|
|
|
NM_022132.5(MCCC2):c.1128C>G (p.Leu376=)
|
|
|
NM_022132.5(MCCC2):c.1128C>T (p.Leu376=)
|
rs758139797
|
|
NM_022132.5(MCCC2):c.1137A>G (p.Glu379=)
|
|
|
NM_022132.5(MCCC2):c.114C>T (p.Gly38=)
|
rs750638270
|
|
NM_022132.5(MCCC2):c.1150-17A>G
|
|
|
NM_022132.5(MCCC2):c.1150-17_1150-16del
|
rs904388490
|
|
NM_022132.5(MCCC2):c.1150-4A>G
|
|
|
NM_022132.5(MCCC2):c.1173C>T (p.Cys391=)
|
rs2112463698
|
|
NM_022132.5(MCCC2):c.117T>C (p.Ser39=)
|
|
|
NM_022132.5(MCCC2):c.1195C>T (p.Leu399=)
|
rs2112463773
|
|
NM_022132.5(MCCC2):c.1197G>C (p.Leu399=)
|
|
|
NM_022132.5(MCCC2):c.1200C>T (p.Phe400=)
|
|
|
NM_022132.5(MCCC2):c.1203T>G (p.Leu401=)
|
|
|
NM_022132.5(MCCC2):c.1216+12G>T
|
|
|
NM_022132.5(MCCC2):c.1216+19del
|
|
|
NM_022132.5(MCCC2):c.1217-10T>G
|
rs2112467673
|
|
NM_022132.5(MCCC2):c.1217-16C>G
|
|
|
NM_022132.5(MCCC2):c.1217-16C>T
|
|
|
NM_022132.5(MCCC2):c.1217-19T>C
|
|
|
NM_022132.5(MCCC2):c.1217-6_1217-3del
|
|
|
NM_022132.5(MCCC2):c.123C>T (p.Leu41=)
|
|
|
NM_022132.5(MCCC2):c.1269C>T (p.Ala423=)
|
rs1747359129
|
|
NM_022132.5(MCCC2):c.1284T>C (p.Ala428=)
|
rs752877391
|
|
NM_022132.5(MCCC2):c.129+10G>A
|
|
|
NM_022132.5(MCCC2):c.129+16C>T
|
|
|
NM_022132.5(MCCC2):c.129+17G>C
|
|
|
NM_022132.5(MCCC2):c.129+7T>C
|
|
|
NM_022132.5(MCCC2):c.129+8G>C
|
|
|
NM_022132.5(MCCC2):c.1290C>A (p.Ala430=)
|
rs1407751176
|
|
NM_022132.5(MCCC2):c.1290C>G (p.Ala430=)
|
rs1407751176
|
|
NM_022132.5(MCCC2):c.1290C>T (p.Ala430=)
|
rs1407751176
|
|
NM_022132.5(MCCC2):c.130-16T>C
|
|
|
NM_022132.5(MCCC2):c.130-20C>A
|
|
|
NM_022132.5(MCCC2):c.1332C>T (p.Ser444=)
|
|
|
NM_022132.5(MCCC2):c.1338A>T (p.Gly446=)
|
|
|
NM_022132.5(MCCC2):c.1368A>T (p.Ala456=)
|
rs10064079
|
|
NM_022132.5(MCCC2):c.1373+16T>G
|
|
|
NM_022132.5(MCCC2):c.1374-15C>T
|
|
|
NM_022132.5(MCCC2):c.1458A>G (p.Thr486=)
|
|
|
NM_022132.5(MCCC2):c.1470A>G (p.Arg490=)
|
rs758144158
|
|
NM_022132.5(MCCC2):c.1488+11T>C
|
|
|
NM_022132.5(MCCC2):c.1488+15C>T
|
|
|
NM_022132.5(MCCC2):c.1488+18T>G
|
|
|
NM_022132.5(MCCC2):c.1488+8T>A
|
|
|
NM_022132.5(MCCC2):c.1488+9C>G
|
rs1561848361
|
|
NM_022132.5(MCCC2):c.1489-10T>C
|
|
|
NM_022132.5(MCCC2):c.1489-16G>A
|
rs1747467303
|
|
NM_022132.5(MCCC2):c.1489-4T>C
|
rs1747467560
|
|
NM_022132.5(MCCC2):c.1489-5T>C
|
|
|
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=)
|
rs1580334193
|
|
NM_022132.5(MCCC2):c.1545G>A (p.Glu515=)
|
rs140220101
|
|
NM_022132.5(MCCC2):c.1548A>G (p.Glu516=)
|
rs1315911728
|
|
NM_022132.5(MCCC2):c.156A>G (p.Leu52=)
|
|
|
NM_022132.5(MCCC2):c.1572A>G (p.Ala524=)
|
rs886060738
|
|
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=)
|
rs886060738
|
|
NM_022132.5(MCCC2):c.1574+15A>G
|
|
|
NM_022132.5(MCCC2):c.1575-10C>A
|
|
|
NM_022132.5(MCCC2):c.1575-10C>T
|
rs1303395410
|
|
NM_022132.5(MCCC2):c.1575-15T>C
|
|
|
NM_022132.5(MCCC2):c.1575-5G>T
|
rs924068629
|
|
NM_022132.5(MCCC2):c.1602A>G (p.Pro534=)
|
rs2112478257
|
|
NM_022132.5(MCCC2):c.1626T>C (p.Gly542=)
|
|
|
NM_022132.5(MCCC2):c.1629C>G (p.Leu543=)
|
|
|
NM_022132.5(MCCC2):c.1629C>T (p.Leu543=)
|
rs764970690
|
|
NM_022132.5(MCCC2):c.1638T>C (p.Ser546=)
|
|
|
NM_022132.5(MCCC2):c.1647C>T (p.Leu549=)
|
rs781648337
|
|
NM_022132.5(MCCC2):c.1668T>C (p.Thr556=)
|
rs1200111967
|
|
NM_022132.5(MCCC2):c.175C>A (p.Arg59=)
|
|
|
NM_022132.5(MCCC2):c.183G>A (p.Glu61=)
|
|
|
NM_022132.5(MCCC2):c.196+18_196+19insATTAAGTAA
|
|
|
NM_022132.5(MCCC2):c.196+19C>A
|
|
|
NM_022132.5(MCCC2):c.197-7A>G
|
|
|
NM_022132.5(MCCC2):c.210A>G (p.Lys70=)
|
rs2112293469
|
|
NM_022132.5(MCCC2):c.237A>G (p.Gly79=)
|
rs2112293709
|
|
NM_022132.5(MCCC2):c.244T>C (p.Leu82=)
|
rs2112293727
|
|
NM_022132.5(MCCC2):c.246G>A (p.Leu82=)
|
rs1427801007
|
|
NM_022132.5(MCCC2):c.252A>G (p.Arg84=)
|
rs1295786119
|
|
NM_022132.5(MCCC2):c.264C>T (p.Asp88=)
|
|
|
NM_022132.5(MCCC2):c.270C>G (p.Leu90=)
|
|
|
NM_022132.5(MCCC2):c.279A>T (p.Pro93=)
|
rs1554133471
|
|
NM_022132.5(MCCC2):c.281+10T>G
|
|
|
NM_022132.5(MCCC2):c.281+14C>T
|
|
|
NM_022132.5(MCCC2):c.282-15C>T
|
|
|
NM_022132.5(MCCC2):c.282-9T>C
|
rs1464131809
|
|
NM_022132.5(MCCC2):c.321G>A (p.Gln107=)
|
rs2112308941
|
|
NM_022132.5(MCCC2):c.324A>G (p.Leu108=)
|
rs2112308948
|
|
NM_022132.5(MCCC2):c.342G>A (p.Val114=)
|
|
|
NM_022132.5(MCCC2):c.354C>G (p.Gly118=)
|
|
|
NM_022132.5(MCCC2):c.384-10T>C
|
|
|
NM_022132.5(MCCC2):c.384-8C>G
|
rs2112319784
|
|
NM_022132.5(MCCC2):c.384-9G>A
|
rs2112319771
|
|
NM_022132.5(MCCC2):c.423A>G (p.Lys141=)
|
|
|
NM_022132.5(MCCC2):c.435C>T (p.Tyr145=)
|
|
|
NM_022132.5(MCCC2):c.45C>T (p.Ala15=)
|
|
|
NM_022132.5(MCCC2):c.468C>T (p.Ala156=)
|
|
|
NM_022132.5(MCCC2):c.489C>T (p.Asn163=)
|
rs774803841
|
|
NM_022132.5(MCCC2):c.504C>A (p.Ile168=)
|
|
|
NM_022132.5(MCCC2):c.511+10del
|
|
|
NM_022132.5(MCCC2):c.511+11A>C
|
|
|
NM_022132.5(MCCC2):c.511+13A>T
|
|
|
NM_022132.5(MCCC2):c.511+14G>T
|
|
|
NM_022132.5(MCCC2):c.511+20A>G
|
|
|
NM_022132.5(MCCC2):c.512-14T>A
|
rs765487963
|
|
NM_022132.5(MCCC2):c.512-19T>G
|
|
|
NM_022132.5(MCCC2):c.519G>A (p.Ser173=)
|
|
|
NM_022132.5(MCCC2):c.528A>T (p.Ala176=)
|
rs753733837
|
|
NM_022132.5(MCCC2):c.531C>T (p.Tyr177=)
|
|
|
NM_022132.5(MCCC2):c.537T>A (p.Pro179=)
|
rs1275219211
|
|
NM_022132.5(MCCC2):c.540A>G (p.Arg180=)
|
rs2112328806
|
|
NM_022132.5(MCCC2):c.54C>G (p.Ala18=)
|
rs747327321
|
|
NM_022132.5(MCCC2):c.54C>T (p.Ala18=)
|
|
|
NM_022132.5(MCCC2):c.552G>A (p.Val184=)
|
|
|
NM_022132.5(MCCC2):c.567C>T (p.Asp189=)
|
|
|
NM_022132.5(MCCC2):c.57G>C (p.Gly19=)
|
|
|
NM_022132.5(MCCC2):c.60G>C (p.Pro20=)
|
|
|
NM_022132.5(MCCC2):c.618T>C (p.Ile206=)
|
rs2112329401
|
|
NM_022132.5(MCCC2):c.624+10C>A
|
rs2112329449
|
|
NM_022132.5(MCCC2):c.624+15A>C
|
|
|
NM_022132.5(MCCC2):c.624+15A>G
|
|
|
NM_022132.5(MCCC2):c.625-15G>A
|
|
|
NM_022132.5(MCCC2):c.625-18C>T
|
|
|
NM_022132.5(MCCC2):c.625-19T>C
|
|
|
NM_022132.5(MCCC2):c.630A>C (p.Ala210=)
|
|
|
NM_022132.5(MCCC2):c.630A>G (p.Ala210=)
|
rs760020328
|
|
NM_022132.5(MCCC2):c.663C>A (p.Ala221=)
|
|
|
NM_022132.5(MCCC2):c.663C>T (p.Ala221=)
|
rs978623277
|
|
NM_022132.5(MCCC2):c.672T>C (p.Pro224=)
|
rs1337800475
|
|
NM_022132.5(MCCC2):c.690C>T (p.Asn230=)
|
|
|
NM_022132.5(MCCC2):c.699A>G (p.Val233=)
|
rs2112412515
|
|
NM_022132.5(MCCC2):c.708G>A (p.Gln236=)
|
rs2112412564
|
|
NM_022132.5(MCCC2):c.714C>T (p.Thr238=)
|
rs200849501
|
|
NM_022132.5(MCCC2):c.720C>T (p.Phe240=)
|
|
|
NM_022132.5(MCCC2):c.726A>G (p.Ala242=)
|
rs2112412678
|
|
NM_022132.5(MCCC2):c.729A>C (p.Gly243=)
|
rs535377555
|
|
NM_022132.5(MCCC2):c.738+11A>G
|
|
|
NM_022132.5(MCCC2):c.738+17G>A
|
|
|
NM_022132.5(MCCC2):c.738+8C>A
|
rs1746541390
|
|
NM_022132.5(MCCC2):c.739-11C>T
|
|
|
NM_022132.5(MCCC2):c.739-4G>T
|
|
|
NM_022132.5(MCCC2):c.739-7G>C
|
rs765082065
|
|
NM_022132.5(MCCC2):c.739-8T>C
|
|
|
NM_022132.5(MCCC2):c.739-9T>C
|
|
|
NM_022132.5(MCCC2):c.747G>A (p.Ala249=)
|
|
|
NM_022132.5(MCCC2):c.753T>G (p.Thr251=)
|
|
|
NM_022132.5(MCCC2):c.765A>G (p.Val255=)
|
rs1405840387
|
|
NM_022132.5(MCCC2):c.786T>G (p.Gly262=)
|
rs1041557611
|
|
NM_022132.5(MCCC2):c.795T>G (p.Leu265=)
|
|
|
NM_022132.5(MCCC2):c.803+12A>C
|
|
|
NM_022132.5(MCCC2):c.803+13T>C
|
|
|
NM_022132.5(MCCC2):c.803+14G>T
|
|
|
NM_022132.5(MCCC2):c.803+7C>T
|
rs1561840847
|
|
NM_022132.5(MCCC2):c.803+9_803+10del
|
rs1561840849
|
|
NM_022132.5(MCCC2):c.804-4G>A
|
|
|
NM_022132.5(MCCC2):c.822C>T (p.Asp274=)
|
rs2112437391
|
|
NM_022132.5(MCCC2):c.861T>A (p.Thr287=)
|
|
|
NM_022132.5(MCCC2):c.861T>C (p.Thr287=)
|
rs1171847854
|
|
NM_022132.5(MCCC2):c.861T>G (p.Thr287=)
|
|
|
NM_022132.5(MCCC2):c.876G>A (p.Arg292=)
|
|
|
NM_022132.5(MCCC2):c.879T>C (p.Asn293=)
|
rs753100774
|
|
NM_022132.5(MCCC2):c.882A>G (p.Leu294=)
|
|
|
NM_022132.5(MCCC2):c.888T>C (p.Tyr296=)
|
|
|
NM_022132.5(MCCC2):c.898T>C (p.Leu300=)
|
rs1746869158
|
|
NM_022132.5(MCCC2):c.903+13T>C
|
|
|
NM_022132.5(MCCC2):c.903+20A>T
|
|
|
NM_022132.5(MCCC2):c.904-10A>G
|
rs1746872931
|
|
NM_022132.5(MCCC2):c.904-15T>C
|
|
|
NM_022132.5(MCCC2):c.904-16A>G
|
|
|
NM_022132.5(MCCC2):c.904-19A>G
|
|
|
NM_022132.5(MCCC2):c.90G>A (p.Ser30=)
|
rs559384926
|
|
NM_022132.5(MCCC2):c.90G>C (p.Ser30=)
|
rs559384926
|
|
NM_022132.5(MCCC2):c.945T>C (p.Asp315=)
|
|
|
NM_022132.5(MCCC2):c.948A>G (p.Glu316=)
|
|
|
NM_022132.5(MCCC2):c.960A>C (p.Ile320=)
|
rs1746875605
|
|
NM_022132.5(MCCC2):c.966T>G (p.Gly322=)
|
|
|
NM_022132.5(MCCC2):c.96C>T (p.Gly32=)
|
|
|
NM_022132.5(MCCC2):c.987T>C (p.Phe329=)
|
rs2112438541
|
|
NM_022132.5(MCCC2):c.9C>A (p.Ala3=)
|
|
|
NM_025136.4(OPA3):c.111C>T (p.Phe37=)
|
|
|
NM_025136.4(OPA3):c.117C>T (p.Thr39=)
|
|
|
NM_025136.4(OPA3):c.123C>T (p.Ile41=)
|
|
|
NM_025136.4(OPA3):c.12C>T (p.Gly4=)
|
|
|
NM_025136.4(OPA3):c.132G>C (p.Pro44=)
|
|
|
NM_025136.4(OPA3):c.135G>A (p.Pro45=)
|
rs553414785
|
|
NM_025136.4(OPA3):c.135G>C (p.Pro45=)
|
|
|
NM_025136.4(OPA3):c.142+10A>C
|
rs539476253
|
|
NM_025136.4(OPA3):c.142+11C>T
|
|
|
NM_025136.4(OPA3):c.142+12C>A
|
|
|
NM_025136.4(OPA3):c.142+13C>A
|
|
|
NM_025136.4(OPA3):c.142+13C>G
|
|
|
NM_025136.4(OPA3):c.142+13C>T
|
|
|
NM_025136.4(OPA3):c.142+17T>A
|
|
|
NM_025136.4(OPA3):c.142+18T>C
|
rs1969904773
|
|
NM_025136.4(OPA3):c.142+20C>T
|
|
|
NM_025136.4(OPA3):c.142+9G>A
|
|
|
NM_025136.4(OPA3):c.142+9G>C
|
|
|
NM_025136.4(OPA3):c.143-12C>G
|
|
|
NM_025136.4(OPA3):c.143-12C>T
|
|
|
NM_025136.4(OPA3):c.143-13T>G
|
rs1278896715
|
|
NM_025136.4(OPA3):c.143-16C>A
|
|
|
NM_025136.4(OPA3):c.143-16C>G
|
|
|
NM_025136.4(OPA3):c.143-16CT[2]
|
|
|
NM_025136.4(OPA3):c.143-17C>T
|
|
|
NM_025136.4(OPA3):c.143-4G>T
|
|
|
NM_025136.4(OPA3):c.143-5C>T
|
rs770452409
|
|
NM_025136.4(OPA3):c.143-8C>T
|
rs1315898626
|
|
NM_025136.4(OPA3):c.143-9C>A
|
|
|
NM_025136.4(OPA3):c.144G>A (p.Leu48=)
|
rs2122440942
|
|
NM_025136.4(OPA3):c.15G>A (p.Ala5=)
|
|
|
NM_025136.4(OPA3):c.165G>T (p.Arg55=)
|
|
|
NM_025136.4(OPA3):c.168C>T (p.Thr56=)
|
|
|
NM_025136.4(OPA3):c.18C>T (p.Phe6=)
|
|
|
NM_025136.4(OPA3):c.195C>A (p.Gly65=)
|
|
|
NM_025136.4(OPA3):c.198G>A (p.Thr66=)
|
|
|
NM_025136.4(OPA3):c.201C>T (p.Val67=)
|
rs539986269
|
|
NM_025136.4(OPA3):c.204C>A (p.Ile68=)
|
|
|
NM_025136.4(OPA3):c.210G>A (p.Pro70=)
|
|
|
NM_025136.4(OPA3):c.213G>A (p.Leu71=)
|
rs1258779986
|
|
NM_025136.4(OPA3):c.216C>T (p.Asn72=)
|
rs772750356
|
|
NM_025136.4(OPA3):c.21T>A (p.Pro7=)
|
|
|
NM_025136.4(OPA3):c.225G>A (p.Ala75=)
|
|
|
NM_025136.4(OPA3):c.228A>T (p.Ala76=)
|
|
|
NM_025136.4(OPA3):c.235C>T (p.Leu79=)
|
rs886037828
|
|
NM_025136.4(OPA3):c.237G>A (p.Leu79=)
|
rs943536843
|
|
NM_025136.4(OPA3):c.237G>T (p.Leu79=)
|
|
|
NM_025136.4(OPA3):c.240C>T (p.Gly80=)
|
|
|
NM_025136.4(OPA3):c.246G>A (p.Glu82=)
|
rs1599964759
|
|
NM_025136.4(OPA3):c.247C>T (p.Leu83=)
|
|
|
NM_025136.4(OPA3):c.250C>T (p.Leu84=)
|
|
|
NM_025136.4(OPA3):c.252G>T (p.Leu84=)
|
|
|
NM_025136.4(OPA3):c.255C>G (p.Gly85=)
|
rs951025429
|
|
NM_025136.4(OPA3):c.273C>T (p.Ile91=)
|
rs369545089
|
|
NM_025136.4(OPA3):c.279C>T (p.Gly93=)
|
rs1165747962
|
|
NM_025136.4(OPA3):c.27G>A (p.Ala9=)
|
|
|
NM_025136.4(OPA3):c.282C>A (p.Gly94=)
|
|
|
NM_025136.4(OPA3):c.282C>T (p.Gly94=)
|
rs1478895044
|
|
NM_025136.4(OPA3):c.288C>T (p.Cys96=)
|
|
|
NM_025136.4(OPA3):c.289C>T (p.Leu97=)
|
rs755295420
|
|
NM_025136.4(OPA3):c.291A>G (p.Leu97=)
|
rs755689286
|
|
NM_025136.4(OPA3):c.30G>A (p.Lys10=)
|
rs1131692018
|
|
NM_025136.4(OPA3):c.318G>T (p.Ala106=)
|
rs867188673
|
|
NM_025136.4(OPA3):c.327C>G (p.Arg109=)
|
rs2122439641
|
|
NM_025136.4(OPA3):c.33G>A (p.Leu11=)
|
rs148805518
|
|
NM_025136.4(OPA3):c.342G>A (p.Glu114=)
|
|
|
NM_025136.4(OPA3):c.360C>T (p.Asn120=)
|
|
|
NM_025136.4(OPA3):c.363G>A (p.Ala121=)
|
rs1371810069
|
|
NM_025136.4(OPA3):c.363G>C (p.Ala121=)
|
rs1371810069
|
|
NM_025136.4(OPA3):c.363G>T (p.Ala121=)
|
rs1371810069
|
|
NM_025136.4(OPA3):c.364C>T (p.Leu122=)
|
|
|
NM_025136.4(OPA3):c.367C>A (p.Arg123=)
|
rs1022155897
|
|
NM_025136.4(OPA3):c.390G>A (p.Ala130=)
|
rs2122439205
|
|
NM_025136.4(OPA3):c.393G>A (p.Leu131=)
|
|
|
NM_025136.4(OPA3):c.397C>T (p.Leu133=)
|
rs2122439146
|
|
NM_025136.4(OPA3):c.405G>A (p.Ala135=)
|
rs750848548
|
|
NM_025136.4(OPA3):c.40T>C (p.Leu14=)
|
rs2122529532
|
|
NM_025136.4(OPA3):c.414G>A (p.Ala138=)
|
rs1969373306
|
|
NM_025136.4(OPA3):c.414G>T (p.Ala138=)
|
|
|
NM_025136.4(OPA3):c.417G>A (p.Gln139=)
|
rs2122438987
|
|
NM_025136.4(OPA3):c.429G>A (p.Ala143=)
|
rs745373208
|
|
NM_025136.4(OPA3):c.435A>G (p.Pro145=)
|
|
|
NM_025136.4(OPA3):c.444C>G (p.Ala148=)
|
rs759536853
|
|
NM_025136.4(OPA3):c.445C>T (p.Leu149=)
|
rs1057523113
|
|
NM_025136.4(OPA3):c.456G>A (p.Leu152=)
|
|
|
NM_025136.4(OPA3):c.456G>T (p.Leu152=)
|
|
|
NM_025136.4(OPA3):c.45C>T (p.Gly15=)
|
|
|
NM_025136.4(OPA3):c.462A>C (p.Thr154=)
|
rs2122438569
|
|
NM_025136.4(OPA3):c.462A>G (p.Thr154=)
|
|
|
NM_025136.4(OPA3):c.468G>C (p.Leu156=)
|
rs2122438534
|
|
NM_025136.4(OPA3):c.471A>G (p.Gln157=)
|
|
|
NM_025136.4(OPA3):c.474G>A (p.Glu158=)
|
rs1969371102
|
|
NM_025136.4(OPA3):c.477G>C (p.Val159=)
|
|
|
NM_025136.4(OPA3):c.477G>T (p.Val159=)
|
|
|
NM_025136.4(OPA3):c.483C>G (p.Ala161=)
|
rs2122438328
|
|
NM_025136.4(OPA3):c.489C>T (p.Leu163=)
|
|
|
NM_025136.4(OPA3):c.501C>T (p.Gly167=)
|
|
|
NM_025136.4(OPA3):c.504G>A (p.Arg168=)
|
|
|
NM_025136.4(OPA3):c.504G>T (p.Arg168=)
|
|
|
NM_025136.4(OPA3):c.507C>G (p.Ser169=)
|
rs757829968
|
|
NM_025136.4(OPA3):c.513C>T (p.Ser171=)
|
|
|
NM_025136.4(OPA3):c.516C>T (p.His172=)
|
rs1427115632
|
|
NM_025136.4(OPA3):c.522G>A (p.Val174=)
|
rs1969369481
|
|
NM_025136.4(OPA3):c.531C>T (p.Ser177=)
|
rs2122437966
|
|
NM_025136.4(OPA3):c.57C>T (p.Val19=)
|
rs1600010212
|
|
NM_025136.4(OPA3):c.66G>T (p.Pro22=)
|
rs1969906893
|
|
NM_025136.4(OPA3):c.6G>A (p.Val2=)
|
rs2122529689
|
|
NM_025136.4(OPA3):c.6G>C (p.Val2=)
|
rs2122529689
|
|
NM_025136.4(OPA3):c.72C>T (p.Ala24=)
|
rs1305459152
|
|
NM_025136.4(OPA3):c.75C>T (p.Asn25=)
|
rs2122529407
|
|
NM_025136.4(OPA3):c.84G>A (p.Lys28=)
|
|
|
NM_025136.4(OPA3):c.90C>A (p.Ala30=)
|
rs1600010139
|
|
NM_025136.4(OPA3):c.99A>G (p.Arg33=)
|
|
|
NM_030813.6(CLPB):c.651G>C (p.Gly217=)
|
|
|
NM_030813.6(CLPB):c.666A>C (p.Ala222=)
|
|
|
NM_030813.6(CLPB):c.675C>T (p.His225=)
|
|
|
NM_030813.6(CLPB):c.693A>C (p.Thr231=)
|
|
|
NM_030813.6(CLPB):c.705G>A (p.Glu235=)
|
rs2135657829
|
|
NM_030813.6(CLPB):c.729C>T (p.Pro243=)
|
|
|
NM_032601.4(MCEE):c.117A>G (p.Thr39=)
|
rs1673176800
|
|
NM_032601.4(MCEE):c.133C>T (p.Leu45=)
|
|
|
NM_032601.4(MCEE):c.159A>C (p.Ile53=)
|
|
|
NM_032601.4(MCEE):c.18G>A (p.Lys6=)
|
|
|
NM_032601.4(MCEE):c.205C>T (p.Leu69=)
|
|
|
NM_032601.4(MCEE):c.210G>A (p.Gly70=)
|
|
|
NM_032601.4(MCEE):c.228G>A (p.Ala76=)
|
|
|
NM_032601.4(MCEE):c.24A>C (p.Ala8=)
|
|
|
NM_032601.4(MCEE):c.27C>A (p.Ala9=)
|
|
|
NM_032601.4(MCEE):c.27C>T (p.Ala9=)
|
|
|
NM_032601.4(MCEE):c.282C>T (p.Thr94=)
|
|
|
NM_032601.4(MCEE):c.291A>G (p.Glu97=)
|
|
|
NM_032601.4(MCEE):c.303A>T (p.Pro101=)
|
|
|
NM_032601.4(MCEE):c.30G>A (p.Ala10=)
|
|
|
NM_032601.4(MCEE):c.321A>G (p.Pro107=)
|
|
|
NM_032601.4(MCEE):c.327A>T (p.Ala109=)
|
rs1572891311
|
|
NM_032601.4(MCEE):c.354A>T (p.Gly118=)
|
|
|
NM_032601.4(MCEE):c.369C>T (p.Ile123=)
|
|
|
NM_032601.4(MCEE):c.36C>T (p.Ala12=)
|
|
|
NM_032601.4(MCEE):c.378+11_378+19del
|
|
|
NM_032601.4(MCEE):c.378+15T>G
|
|
|
NM_032601.4(MCEE):c.378+19T>C
|
|
|
NM_032601.4(MCEE):c.378+20G>T
|
|
|
NM_032601.4(MCEE):c.379-19T>C
|
|
|
NM_032601.4(MCEE):c.379-5T>G
|
|
|
NM_032601.4(MCEE):c.381G>C (p.Val127=)
|
rs1327966561
|
|
NM_032601.4(MCEE):c.393T>C (p.Asn131=)
|
|
|
NM_032601.4(MCEE):c.40+13C>A
|
|
|
NM_032601.4(MCEE):c.40+17G>A
|
|
|
NM_032601.4(MCEE):c.40+8C>G
|
|
|
NM_032601.4(MCEE):c.41-20A>G
|
|
|
NM_032601.4(MCEE):c.459A>C (p.Ala153=)
|
|
|
NM_032601.4(MCEE):c.462T>C (p.His154=)
|
|
|
NM_032601.4(MCEE):c.474G>A (p.Val158=)
|
|
|
NM_032601.4(MCEE):c.474G>T (p.Val158=)
|
|
|
NM_032601.4(MCEE):c.483C>G (p.Leu161=)
|
|
|
NM_032601.4(MCEE):c.501T>C (p.Gly167=)
|
|
|
NM_032601.4(MCEE):c.507C>G (p.Val169=)
|
|
|
NM_032601.4(MCEE):c.517C>T (p.Leu173=)
|
|
|
NM_032601.4(MCEE):c.66C>G (p.Pro22=)
|
|
|
NM_032601.4(MCEE):c.78A>G (p.Val26=)
|
|
|
NM_032601.4(MCEE):c.84T>G (p.Ala28=)
|
|
|
NM_032601.4(MCEE):c.93A>C (p.Thr31=)
|
|
|
NM_032861.4(SERAC1):c.1089G>C (p.Leu363=)
|
|
|
NM_032861.4(SERAC1):c.1166+15G>A
|
|
|
NM_032861.4(SERAC1):c.1166+8del
|
rs766776726
|
|
NM_032861.4(SERAC1):c.1167-15T>C
|
|
|
NM_032861.4(SERAC1):c.1182A>G (p.Ala394=)
|
rs2128412053
|
|
NM_032861.4(SERAC1):c.1260T>C (p.Ile420=)
|
|
|
NM_032861.4(SERAC1):c.128+7C>T
|
|
|
NM_032861.4(SERAC1):c.1309-18A>G
|
|
|
NM_032861.4(SERAC1):c.1311A>G (p.Thr437=)
|
|
|
NM_032861.4(SERAC1):c.1356G>A (p.Glu452=)
|
|
|
NM_032861.4(SERAC1):c.138A>G (p.Leu46=)
|
rs777425675
|
|
NM_032861.4(SERAC1):c.1404-13TTGTT[3]
|
|
|
NM_032861.4(SERAC1):c.1501+16A>C
|
rs369225459
|
|
NM_032861.4(SERAC1):c.1501+16A>G
|
rs369225459
|
|
NM_032861.4(SERAC1):c.1502-16C>T
|
|
|
NM_032861.4(SERAC1):c.1502-20T>A
|
rs867006888
|
|
NM_032861.4(SERAC1):c.1611A>C (p.Ser537=)
|
|
|
NM_032861.4(SERAC1):c.162C>T (p.Ala54=)
|
|
|
NM_032861.4(SERAC1):c.1635T>C (p.Asn545=)
|
|
|
NM_032861.4(SERAC1):c.1684+10T>C
|
|
|
NM_032861.4(SERAC1):c.1684+20A>G
|
|
|
NM_032861.4(SERAC1):c.1684+7C>T
|
rs765831183
|
|
NM_032861.4(SERAC1):c.1704A>G (p.Thr568=)
|
|
|
NM_032861.4(SERAC1):c.1785T>C (p.Ile595=)
|
|
|
NM_032861.4(SERAC1):c.183A>G (p.Leu61=)
|
|
|
NM_032861.4(SERAC1):c.1848A>G (p.Leu616=)
|
|
|
NM_032861.4(SERAC1):c.195G>A (p.Val65=)
|
rs2128422348
|
|
NM_032861.4(SERAC1):c.21C>T (p.Cys7=)
|
rs139301835
|
|
NM_032861.4(SERAC1):c.265+11T>C
|
|
|
NM_032861.4(SERAC1):c.265+11del
|
|
|
NM_032861.4(SERAC1):c.356-16T>C
|
rs1785075456
|
|
NM_032861.4(SERAC1):c.356-20G>C
|
|
|
NM_032861.4(SERAC1):c.412C>A (p.Arg138=)
|
|
|
NM_032861.4(SERAC1):c.468G>A (p.Ser156=)
|
|
|
NM_032861.4(SERAC1):c.555A>G (p.Glu185=)
|
|
|
NM_032861.4(SERAC1):c.582A>G (p.Leu194=)
|
|
|
NM_032861.4(SERAC1):c.610-17C>G
|
|
|
NM_032861.4(SERAC1):c.72C>A (p.Gly24=)
|
|
|
NM_032861.4(SERAC1):c.739-13A>G
|
|
|
NM_032861.4(SERAC1):c.739-15T>A
|
rs1055428813
|
|
NM_032861.4(SERAC1):c.771T>C (p.Leu257=)
|
|
|
NM_032861.4(SERAC1):c.780T>C (p.Ala260=)
|
rs2128415873
|
|
NM_032861.4(SERAC1):c.840A>T (p.Val280=)
|
rs2128415848
|
|
NM_032861.4(SERAC1):c.852+16A>T
|
|
|
NM_032861.4(SERAC1):c.852+7T>C
|
rs1452026354
|
|
NM_032861.4(SERAC1):c.876C>A (p.Ile292=)
|
|
|
NM_032861.4(SERAC1):c.885T>C (p.Asn295=)
|
|
|
NM_032861.4(SERAC1):c.897G>A (p.Gln299=)
|
|
|
NM_032861.4(SERAC1):c.91+13T>A
|
|
|
NM_032861.4(SERAC1):c.91+9A>G
|
|
|
NM_032861.4(SERAC1):c.92-17C>T
|
rs1785305261
|
|
NM_032861.4(SERAC1):c.92-20del
|
|
|
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)
|
rs754630732
|
|
NM_052845.4(MMAB):c.102C>T (p.Ser34=)
|
|
|
NM_052845.4(MMAB):c.105C>T (p.Arg35=)
|
rs1884735595
|
|
NM_052845.4(MMAB):c.108C>A (p.Gly36=)
|
|
|
NM_052845.4(MMAB):c.108C>T (p.Gly36=)
|
rs2136213363
|
|
NM_052845.4(MMAB):c.111T>G (p.Pro37=)
|
|
|
NM_052845.4(MMAB):c.126C>T (p.Asp42=)
|
rs2136213327
|
|
NM_052845.4(MMAB):c.132C>T (p.Asp44=)
|
rs747649185
|
|
NM_052845.4(MMAB):c.134+10T>G
|
|
|
NM_052845.4(MMAB):c.134+14G>A
|
|
|
NM_052845.4(MMAB):c.134+16del
|
|
|
NM_052845.4(MMAB):c.134+20G>A
|
|
|
NM_052845.4(MMAB):c.134+7G>A
|
|
|
NM_052845.4(MMAB):c.135-12A>T
|
|
|
NM_052845.4(MMAB):c.135-19G>A
|
|
|
NM_052845.4(MMAB):c.135-8C>T
|
rs2136210870
|
|
NM_052845.4(MMAB):c.144T>G (p.Pro48=)
|
rs2136210832
|
|
NM_052845.4(MMAB):c.147C>T (p.Ser49=)
|
|
|
NM_052845.4(MMAB):c.165C>T (p.Ile55=)
|
rs2136210798
|
|
NM_052845.4(MMAB):c.16C>T (p.Leu6=)
|
rs1190176115
|
|
NM_052845.4(MMAB):c.177C>T (p.Tyr59=)
|
rs2136210789
|
|
NM_052845.4(MMAB):c.186G>A (p.Thr62=)
|
|
|
NM_052845.4(MMAB):c.186G>T (p.Thr62=)
|
|
|
NM_052845.4(MMAB):c.189A>G (p.Gly63=)
|
rs2136210776
|
|
NM_052845.4(MMAB):c.18G>A (p.Leu6=)
|
|
|
NM_052845.4(MMAB):c.196+13C>G
|
|
|
NM_052845.4(MMAB):c.196+17T>G
|
|
|
NM_052845.4(MMAB):c.196+9G>A
|
|
|
NM_052845.4(MMAB):c.197-12T>C
|
|
|
NM_052845.4(MMAB):c.197-14A>G
|
|
|
NM_052845.4(MMAB):c.197-15C>A
|
|
|
NM_052845.4(MMAB):c.197-7T>C
|
|
|
NM_052845.4(MMAB):c.219A>G (p.Gly73=)
|
|
|
NM_052845.4(MMAB):c.222A>G (p.Glu74=)
|
rs1389815526
|
|
NM_052845.4(MMAB):c.225G>A (p.Arg75=)
|
rs267603297
|
|
NM_052845.4(MMAB):c.240C>T (p.Asp80=)
|
|
|
NM_052845.4(MMAB):c.243A>G (p.Gln81=)
|
rs1473011297
|
|
NM_052845.4(MMAB):c.24C>T (p.Ser8=)
|
|
|
NM_052845.4(MMAB):c.255C>G (p.Ala85=)
|
|
|
NM_052845.4(MMAB):c.258G>A (p.Val86=)
|
rs2136208331
|
|
NM_052845.4(MMAB):c.27T>C (p.Arg9=)
|
rs1311011214
|
|
NM_052845.4(MMAB):c.27T>G (p.Arg9=)
|
|
|
NM_052845.4(MMAB):c.290+12A>G
|
|
|
NM_052845.4(MMAB):c.290+19G>T
|
|
|
NM_052845.4(MMAB):c.290+7G>C
|
|
|
NM_052845.4(MMAB):c.290+8G>T
|
|
|
NM_052845.4(MMAB):c.291-15C>G
|
|
|
NM_052845.4(MMAB):c.291-18T>C
|
|
|
NM_052845.4(MMAB):c.291-3dup
|
rs2136203965
|
|
NM_052845.4(MMAB):c.291-5C>G
|
|
|
NM_052845.4(MMAB):c.294T>C (p.Phe98=)
|
|
|
NM_052845.4(MMAB):c.297T>C (p.Ala99=)
|
rs2136203950
|
|
NM_052845.4(MMAB):c.30T>C (p.Leu10=)
|
rs757088429
|
|
NM_052845.4(MMAB):c.321C>A (p.Gly107=)
|
|
|
NM_052845.4(MMAB):c.330T>C (p.Phe110=)
|
|
|
NM_052845.4(MMAB):c.33C>T (p.Gly11=)
|
|
|
NM_052845.4(MMAB):c.342T>A (p.Leu114=)
|
rs2136203863
|
|
NM_052845.4(MMAB):c.348+11C>T
|
|
|
NM_052845.4(MMAB):c.348+20C>G
|
|
|
NM_052845.4(MMAB):c.349-14C>G
|
|
|
NM_052845.4(MMAB):c.349-20C>T
|
|
|
NM_052845.4(MMAB):c.349-4C>G
|
rs2136199982
|
|
NM_052845.4(MMAB):c.349-5C>G
|
|
|
NM_052845.4(MMAB):c.349-5C>T
|
rs1228758269
|
|
NM_052845.4(MMAB):c.349-6C>T
|
|
|
NM_052845.4(MMAB):c.349-8C>A
|
|
|
NM_052845.4(MMAB):c.349-8C>G
|
rs1468191738
|
|
NM_052845.4(MMAB):c.349-8C>T
|
rs1468191738
|
|
NM_052845.4(MMAB):c.360A>C (p.Thr120=)
|
|
|
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
|
rs749452007
|
|
NM_052845.4(MMAB):c.381C>T (p.Ala127=)
|
rs1204546700
|
|
NM_052845.4(MMAB):c.39G>T (p.Gly13=)
|
|
|
NM_052845.4(MMAB):c.405C>T (p.Ala135=)
|
|
|
NM_052845.4(MMAB):c.408G>A (p.Arg136=)
|
rs760995089
|
|
NM_052845.4(MMAB):c.414T>C (p.Ala138=)
|
|
|
NM_052845.4(MMAB):c.414T>G (p.Ala138=)
|
rs2136199754
|
|
NM_052845.4(MMAB):c.417C>T (p.His139=)
|
rs2136199746
|
|
NM_052845.4(MMAB):c.418T>C (p.Leu140=)
|
rs768054177
|
|
NM_052845.4(MMAB):c.421+14T>A
|
rs760915792
|
|
NM_052845.4(MMAB):c.421+18G>C
|
|
|
NM_052845.4(MMAB):c.421+7C>A
|
|
|
NM_052845.4(MMAB):c.422-19del
|
|
|
NM_052845.4(MMAB):c.422-5_422-3del
|
rs2136199438
|
|
NM_052845.4(MMAB):c.426T>C (p.Tyr142=)
|
|
|
NM_052845.4(MMAB):c.42C>T (p.Ser14=)
|
|
|
NM_052845.4(MMAB):c.432G>A (p.Thr144=)
|
rs200127370
|
|
NM_052845.4(MMAB):c.432G>T (p.Thr144=)
|
|
|
NM_052845.4(MMAB):c.441G>A (p.Ala147=)
|
rs1038979872
|
|
NM_052845.4(MMAB):c.441G>C (p.Ala147=)
|
rs1038979872
|
|
NM_052845.4(MMAB):c.444G>T (p.Gly148=)
|
|
|
NM_052845.4(MMAB):c.483C>T (p.Thr161=)
|
|
|
NM_052845.4(MMAB):c.492C>G (p.Leu164=)
|
|
|
NM_052845.4(MMAB):c.513C>A (p.Ile171=)
|
|
|
NM_052845.4(MMAB):c.513C>T (p.Ile171=)
|
rs2136199131
|
|
NM_052845.4(MMAB):c.519+10G>A
|
rs771725706
|
|
NM_052845.4(MMAB):c.519+16G>A
|
|
|
NM_052845.4(MMAB):c.519+19T>A
|
|
|
NM_052845.4(MMAB):c.520-15C>T
|
|
|
NM_052845.4(MMAB):c.520-18G>A
|
|
|
NM_052845.4(MMAB):c.520-19T>C
|
|
|
NM_052845.4(MMAB):c.520-20A>G
|
|
|
NM_052845.4(MMAB):c.520-4T>C
|
|
|
NM_052845.4(MMAB):c.52C>T (p.Leu18=)
|
rs374802787
|
|
NM_052845.4(MMAB):c.54G>A (p.Leu18=)
|
rs1884741296
|
|
NM_052845.4(MMAB):c.555C>T (p.Cys185=)
|
|
|
NM_052845.4(MMAB):c.556C>A (p.Arg186=)
|
|
|
NM_052845.4(MMAB):c.561C>G (p.Ala187=)
|
rs370773720
|
|
NM_052845.4(MMAB):c.564G>A (p.Val188=)
|
|
|
NM_052845.4(MMAB):c.570C>T (p.Arg190=)
|
|
|
NM_052845.4(MMAB):c.573G>C (p.Arg191=)
|
rs2136198226
|
|
NM_052845.4(MMAB):c.576C>G (p.Ala192=)
|
|
|
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
|
rs757562796
|
|
NM_052845.4(MMAB):c.579G>A (p.Glu193=)
|
rs2136198146
|
|
NM_052845.4(MMAB):c.57C>G (p.Arg19=)
|
rs10774774
|
|
NM_052845.4(MMAB):c.57C>T (p.Arg19=)
|
rs10774774
|
|
NM_052845.4(MMAB):c.584+12G>A
|
|
|
NM_052845.4(MMAB):c.584+14_584+33del
|
rs1555274482
|
|
NM_052845.4(MMAB):c.584+8G>C
|
|
|
NM_052845.4(MMAB):c.584+9G>C
|
|
|
NM_052845.4(MMAB):c.585-10C>T
|
rs375474421
|
|
NM_052845.4(MMAB):c.585-12C>T
|
|
|
NM_052845.4(MMAB):c.585-16T>A
|
|
|
NM_052845.4(MMAB):c.585-16T>C
|
|
|
NM_052845.4(MMAB):c.585-17G>A
|
|
|
NM_052845.4(MMAB):c.585-18T>C
|
|
|
NM_052845.4(MMAB):c.585-4C>G
|
rs2136195288
|
|
NM_052845.4(MMAB):c.585-9C>T
|
|
|
NM_052845.4(MMAB):c.591G>A (p.Val197=)
|
rs2136195257
|
|
NM_052845.4(MMAB):c.597T>C (p.Leu199=)
|
|
|
NM_052845.4(MMAB):c.60G>A (p.Gly20=)
|
rs766597566
|
|
NM_052845.4(MMAB):c.60G>T (p.Gly20=)
|
rs766597566
|
|
NM_052845.4(MMAB):c.615C>G (p.Thr205=)
|
rs760629956
|
|
NM_052845.4(MMAB):c.621G>A (p.Ala207=)
|
|
|
NM_052845.4(MMAB):c.621G>C (p.Ala207=)
|
|
|
NM_052845.4(MMAB):c.633G>A (p.Lys211=)
|
|
|
NM_052845.4(MMAB):c.644+14A>C
|
|
|
NM_052845.4(MMAB):c.644+17T>C
|
|
|
NM_052845.4(MMAB):c.644+7dup
|
|
|
NM_052845.4(MMAB):c.645-16C>A
|
|
|
NM_052845.4(MMAB):c.645-20CT[6]
|
|
|
NM_052845.4(MMAB):c.645-7C>T
|
|
|
NM_052845.4(MMAB):c.645-8C>T
|
|
|
NM_052845.4(MMAB):c.660C>G (p.Leu220=)
|
|
|
NM_052845.4(MMAB):c.666G>T (p.Thr222=)
|
rs369296142
|
|
NM_052845.4(MMAB):c.66C>T (p.Phe22=)
|
rs765869812
|
|
NM_052845.4(MMAB):c.696G>T (p.Gly232=)
|
|
|
NM_052845.4(MMAB):c.6T>A (p.Ala2=)
|
|
|
NM_052845.4(MMAB):c.702A>G (p.Gln234=)
|
|
|
NM_052845.4(MMAB):c.705G>A (p.Glu235=)
|
|
|
NM_052845.4(MMAB):c.729A>G (p.Pro243=)
|
|
|
NM_052845.4(MMAB):c.732G>C (p.Ser244=)
|
rs186864802
|
|
NM_052845.4(MMAB):c.735C>G (p.Ala245=)
|
rs377015836
|
|
NM_052845.4(MMAB):c.735C>T (p.Ala245=)
|
rs377015836
|
|
NM_052845.4(MMAB):c.78G>A (p.Arg26=)
|
|
|
NM_052845.4(MMAB):c.84G>A (p.Leu28=)
|
rs747142605
|
|
NM_054012.4(ASS1):c.1020G>A (p.Lys340=)
|
|
|
NM_054012.4(ASS1):c.102T>C (p.Tyr34=)
|
rs1236633346
|
|
NM_054012.4(ASS1):c.1035G>A (p.Val345=)
|
rs2118880192
|
|
NM_054012.4(ASS1):c.1041G>A (p.Gly347=)
|
|
|
NM_054012.4(ASS1):c.1041G>T (p.Gly347=)
|
|
|
NM_054012.4(ASS1):c.105+10C>A
|
rs1010509460
|
|
NM_054012.4(ASS1):c.105+11G>A
|
|
|
NM_054012.4(ASS1):c.105+14C>G
|
|
|
NM_054012.4(ASS1):c.105+17G>C
|
|
|
NM_054012.4(ASS1):c.105+7G>A
|
|
|
NM_054012.4(ASS1):c.106-14C>T
|
|
|
NM_054012.4(ASS1):c.106-15G>A
|
rs77534228
|
|
NM_054012.4(ASS1):c.106-15G>C
|
|
|
NM_054012.4(ASS1):c.106-15G>T
|
|
|
NM_054012.4(ASS1):c.106-19C>G
|
|
|
NM_054012.4(ASS1):c.106-5C>T
|
|
|
NM_054012.4(ASS1):c.1062C>G (p.Leu354=)
|
rs763822587
|
|
NM_054012.4(ASS1):c.1062C>T (p.Leu354=)
|
rs763822587
|
|
NM_054012.4(ASS1):c.1077C>T (p.Tyr359=)
|
|
|
NM_054012.4(ASS1):c.1086C>T (p.Gly362=)
|
|
|
NM_054012.4(ASS1):c.1104T>C (p.Ser368=)
|
|
|
NM_054012.4(ASS1):c.1110C>T (p.Tyr370=)
|
rs1588508629
|
|
NM_054012.4(ASS1):c.111C>T (p.Asn37=)
|
|
|
NM_054012.4(ASS1):c.1125G>A (p.Val375=)
|
|
|
NM_054012.4(ASS1):c.1127+10C>T
|
|
|
NM_054012.4(ASS1):c.1127+17_1127+27del
|
|
|
NM_054012.4(ASS1):c.1127+18C>T
|
|
|
NM_054012.4(ASS1):c.1128-12C>T
|
|
|
NM_054012.4(ASS1):c.1128-16T>C
|
|
|
NM_054012.4(ASS1):c.1128-20A>G
|
|
|
NM_054012.4(ASS1):c.1128-4G>A
|
|
|
NM_054012.4(ASS1):c.1128-7C>T
|
rs1846686034
|
|
NM_054012.4(ASS1):c.1137G>A (p.Val379=)
|
|
|
NM_054012.4(ASS1):c.1149T>C (p.Tyr383=)
|
|
|
NM_054012.4(ASS1):c.1152G>A (p.Glu384=)
|
rs2118893688
|
|
NM_054012.4(ASS1):c.1161T>C (p.Asp387=)
|
rs1193686175
|
|
NM_054012.4(ASS1):c.1164C>T (p.Ala388=)
|
|
|
NM_054012.4(ASS1):c.1167C>G (p.Thr389=)
|
rs772796860
|
|
NM_054012.4(ASS1):c.1170G>A (p.Gly390=)
|
rs1332789289
|
|
NM_054012.4(ASS1):c.1170G>C (p.Gly390=)
|
rs1332789289
|
|
NM_054012.4(ASS1):c.1170G>T (p.Gly390=)
|
rs1332789289
|
|
NM_054012.4(ASS1):c.1176C>T (p.Ile392=)
|
|
|
NM_054012.4(ASS1):c.1179C>T (p.Asn393=)
|
rs754836732
|
|
NM_054012.4(ASS1):c.117C>G (p.Gly39=)
|
rs1378899995
|
|
NM_054012.4(ASS1):c.117C>T (p.Gly39=)
|
|
|
NM_054012.4(ASS1):c.1188C>A (p.Ser396=)
|
|
|
NM_054012.4(ASS1):c.1191C>G (p.Leu397=)
|
|
|
NM_054012.4(ASS1):c.1191C>T (p.Leu397=)
|
rs2118893885
|
|
NM_054012.4(ASS1):c.1193+14G>C
|
|
|
NM_054012.4(ASS1):c.1193+18C>G
|
|
|
NM_054012.4(ASS1):c.1193+7A>G
|
|
|
NM_054012.4(ASS1):c.1193+8G>A
|
|
|
NM_054012.4(ASS1):c.1194-8G>A
|
rs2118897971
|
|
NM_054012.4(ASS1):c.1194-9G>T
|
|
|
NM_054012.4(ASS1):c.1200G>A (p.Lys400=)
|
|
|
NM_054012.4(ASS1):c.1215C>G (p.Leu405=)
|
rs1278858341
|
|
NM_054012.4(ASS1):c.1233C>T (p.Ala411=)
|
rs2118898134
|
|
NM_054012.4(ASS1):c.123G>A (p.Lys41=)
|
|
|
NM_054012.4(ASS1):c.153A>G (p.Ala51=)
|
|
|
NM_054012.4(ASS1):c.159G>A (p.Lys53=)
|
rs2131869324
|
|
NM_054012.4(ASS1):c.165G>T (p.Gly55=)
|
rs146333243
|
|
NM_054012.4(ASS1):c.174+14G>A
|
rs1554982247
|
|
NM_054012.4(ASS1):c.174+16C>G
|
|
|
NM_054012.4(ASS1):c.174+18G>A
|
|
|
NM_054012.4(ASS1):c.174+7G>A
|
|
|
NM_054012.4(ASS1):c.174+8G>T
|
|
|
NM_054012.4(ASS1):c.175-10C>T
|
rs1412793547
|
|
NM_054012.4(ASS1):c.175-12C>T
|
|
|
NM_054012.4(ASS1):c.175-13C>T
|
|
|
NM_054012.4(ASS1):c.175-15CTC[3]
|
|
|
NM_054012.4(ASS1):c.175-19T>C
|
|
|
NM_054012.4(ASS1):c.175-20C>T
|
|
|
NM_054012.4(ASS1):c.175-4G>C
|
rs370817871
|
|
NM_054012.4(ASS1):c.175-6C>G
|
|
|
NM_054012.4(ASS1):c.175-7C>A
|
|
|
NM_054012.4(ASS1):c.175-7C>G
|
rs567594559
|
|
NM_054012.4(ASS1):c.177G>A (p.Val59=)
|
|
|
NM_054012.4(ASS1):c.180C>T (p.Phe60=)
|
|
|
NM_054012.4(ASS1):c.186G>A (p.Glu62=)
|
|
|
NM_054012.4(ASS1):c.189T>C (p.Asp63=)
|
|
|
NM_054012.4(ASS1):c.18C>G (p.Ser6=)
|
rs555717331
|
|
NM_054012.4(ASS1):c.198G>A (p.Arg66=)
|
|
|
NM_054012.4(ASS1):c.207G>A (p.Val69=)
|
rs2131873972
|
|
NM_054012.4(ASS1):c.213G>A (p.Glu71=)
|
rs373501531
|
|
NM_054012.4(ASS1):c.234G>A (p.Gln78=)
|
|
|
NM_054012.4(ASS1):c.258C>T (p.Arg86=)
|
|
|
NM_054012.4(ASS1):c.264C>T (p.Leu88=)
|
|
|
NM_054012.4(ASS1):c.267G>C (p.Leu89=)
|
|
|
NM_054012.4(ASS1):c.273C>G (p.Thr91=)
|
|
|
NM_054012.4(ASS1):c.294C>A (p.Ile98=)
|
rs183370361
|
|
NM_054012.4(ASS1):c.300C>T (p.Arg100=)
|
|
|
NM_054012.4(ASS1):c.309G>A (p.Val103=)
|
rs1845505058
|
|
NM_054012.4(ASS1):c.318C>T (p.Ala106=)
|
|
|
NM_054012.4(ASS1):c.322C>A (p.Arg108=)
|
rs143405567
|
|
NM_054012.4(ASS1):c.324G>A (p.Arg108=)
|
|
|
NM_054012.4(ASS1):c.360A>G (p.Gly120=)
|
|
|
NM_054012.4(ASS1):c.363+17G>T
|
|
|
NM_054012.4(ASS1):c.363+19G>T
|
|
|
NM_054012.4(ASS1):c.363+20C>G
|
|
|
NM_054012.4(ASS1):c.363+7C>T
|
|
|
NM_054012.4(ASS1):c.363+8A>C
|
|
|
NM_054012.4(ASS1):c.363+9C>T
|
rs2131874222
|
|
NM_054012.4(ASS1):c.364-7A>C
|
|
|
NM_054012.4(ASS1):c.366G>T (p.Gly122=)
|
|
|
NM_054012.4(ASS1):c.378C>G (p.Val126=)
|
|
|
NM_054012.4(ASS1):c.399C>T (p.Tyr133=)
|
rs766423479
|
|
NM_054012.4(ASS1):c.403C>T (p.Leu135=)
|
|
|
NM_054012.4(ASS1):c.408C>A (p.Ala136=)
|
|
|
NM_054012.4(ASS1):c.408C>T (p.Ala136=)
|
rs765880041
|
|
NM_054012.4(ASS1):c.420+10G>T
|
|
|
NM_054012.4(ASS1):c.420+12C>T
|
|
|
NM_054012.4(ASS1):c.420+13T>A
|
|
|
NM_054012.4(ASS1):c.420+18C>G
|
|
|
NM_054012.4(ASS1):c.420+19C>A
|
rs2131879768
|
|
NM_054012.4(ASS1):c.420+8G>A
|
|
|
NM_054012.4(ASS1):c.421-11C>G
|
|
|
NM_054012.4(ASS1):c.421-14T>C
|
|
|
NM_054012.4(ASS1):c.421-16C>T
|
|
|
NM_054012.4(ASS1):c.421-17C>G
|
|
|
NM_054012.4(ASS1):c.421-18C>A
|
|
|
NM_054012.4(ASS1):c.421-7T>C
|
rs1588483261
|
|
NM_054012.4(ASS1):c.421-8A>G
|
rs764424984
|
|
NM_054012.4(ASS1):c.421-8A>T
|
rs764424984
|
|
NM_054012.4(ASS1):c.426T>A (p.Ile142=)
|
rs2131882512
|
|
NM_054012.4(ASS1):c.429T>C (p.Ala143=)
|
|
|
NM_054012.4(ASS1):c.42C>G (p.Gly14=)
|
|
|
NM_054012.4(ASS1):c.444T>C (p.Pro148=)
|
rs1564907641
|
|
NM_054012.4(ASS1):c.447A>G (p.Glu149=)
|
|
|
NM_054012.4(ASS1):c.450C>T (p.Phe150=)
|
rs2131882534
|
|
NM_054012.4(ASS1):c.456C>T (p.Asn152=)
|
|
|
NM_054012.4(ASS1):c.457C>A (p.Arg153=)
|
rs576636333
|
|
NM_054012.4(ASS1):c.459G>T (p.Arg153=)
|
|
|
NM_054012.4(ASS1):c.462C>T (p.Phe154=)
|
|
|
NM_054012.4(ASS1):c.471C>T (p.Arg157=)
|
|
|
NM_054012.4(ASS1):c.486G>A (p.Glu162=)
|
|
|
NM_054012.4(ASS1):c.495+11G>C
|
|
|
NM_054012.4(ASS1):c.495+15C>A
|
|
|
NM_054012.4(ASS1):c.495+16C>T
|
|
|
NM_054012.4(ASS1):c.495+20C>G
|
|
|
NM_054012.4(ASS1):c.495+20C>T
|
|
|
NM_054012.4(ASS1):c.495+7C>T
|
|
|
NM_054012.4(ASS1):c.496-15_496-14del
|
|
|
NM_054012.4(ASS1):c.496-16T>C
|
|
|
NM_054012.4(ASS1):c.496-18G>T
|
|
|
NM_054012.4(ASS1):c.496-20G>A
|
|
|
NM_054012.4(ASS1):c.496-5T>C
|
|
|
NM_054012.4(ASS1):c.496-7C>G
|
|
|
NM_054012.4(ASS1):c.516G>C (p.Pro172=)
|
|
|
NM_054012.4(ASS1):c.51C>T (p.Thr17=)
|
rs1045437120
|
|
NM_054012.4(ASS1):c.566+12C>T
|
|
|
NM_054012.4(ASS1):c.566+14T>G
|
|
|
NM_054012.4(ASS1):c.566+18C>G
|
rs200036163
|
|
NM_054012.4(ASS1):c.566+18C>T
|
rs200036163
|
|
NM_054012.4(ASS1):c.566+7C>T
|
|
|
NM_054012.4(ASS1):c.566+8C>T
|
rs773713440
|
|
NM_054012.4(ASS1):c.566+9C>T
|
rs1445034997
|
|
NM_054012.4(ASS1):c.567-14T>C
|
|
|
NM_054012.4(ASS1):c.567-20C>T
|
|
|
NM_054012.4(ASS1):c.567-5C>G
|
|
|
NM_054012.4(ASS1):c.567-6C>A
|
|
|
NM_054012.4(ASS1):c.567-6C>G
|
|
|
NM_054012.4(ASS1):c.567-6C>T
|
rs1554722504
|
|
NM_054012.4(ASS1):c.567-9C>A
|
|
|
NM_054012.4(ASS1):c.576T>G (p.Ala192=)
|
|
|
NM_054012.4(ASS1):c.579A>G (p.Gly193=)
|
|
|
NM_054012.4(ASS1):c.582C>T (p.Ile194=)
|
rs2131887137
|
|
NM_054012.4(ASS1):c.585G>A (p.Leu195=)
|
rs2131887144
|
|
NM_054012.4(ASS1):c.591C>T (p.Asn197=)
|
rs1355715277
|
|
NM_054012.4(ASS1):c.594C>T (p.Pro198=)
|
rs1588487651
|
|
NM_054012.4(ASS1):c.597+14C>A
|
|
|
NM_054012.4(ASS1):c.597+19T>A
|
|
|
NM_054012.4(ASS1):c.597+7C>A
|
|
|
NM_054012.4(ASS1):c.598-12G>A
|
|
|
NM_054012.4(ASS1):c.598-12_598-9del
|
|
|
NM_054012.4(ASS1):c.598-14_598-13del
|
|
|
NM_054012.4(ASS1):c.598-20C>G
|
|
|
NM_054012.4(ASS1):c.598-20C>T
|
|
|
NM_054012.4(ASS1):c.598-5T>C
|
rs2118831930
|
|
NM_054012.4(ASS1):c.598-7T>C
|
|
|
NM_054012.4(ASS1):c.598-9T>G
|
|
|
NM_054012.4(ASS1):c.603A>G (p.Gln201=)
|
|
|
NM_054012.4(ASS1):c.60C>T (p.Ile20=)
|
|
|
NM_054012.4(ASS1):c.618C>T (p.Leu206=)
|
rs2118832086
|
|
NM_054012.4(ASS1):c.621C>T (p.Tyr207=)
|
rs2118832096
|
|
NM_054012.4(ASS1):c.639A>G (p.Pro213=)
|
|
|
NM_054012.4(ASS1):c.63C>A (p.Leu21=)
|
rs774476997
|
|
NM_054012.4(ASS1):c.645A>G (p.Lys215=)
|
rs2118832166
|
|
NM_054012.4(ASS1):c.648C>T (p.Ala216=)
|
|
|
NM_054012.4(ASS1):c.651C>A (p.Pro217=)
|
|
|
NM_054012.4(ASS1):c.654C>T (p.Asn218=)
|
rs1846035986
|
|
NM_054012.4(ASS1):c.663C>T (p.Asp221=)
|
|
|
NM_054012.4(ASS1):c.669C>G (p.Leu223=)
|
|
|
NM_054012.4(ASS1):c.688+10_688+13dup
|
|
|
NM_054012.4(ASS1):c.688+12C>A
|
|
|
NM_054012.4(ASS1):c.688+16T>C
|
|
|
NM_054012.4(ASS1):c.688+19G>A
|
|
|
NM_054012.4(ASS1):c.689-10C>T
|
|
|
NM_054012.4(ASS1):c.689-13C>T
|
|
|
NM_054012.4(ASS1):c.689-4C>T
|
rs756916286
|
|
NM_054012.4(ASS1):c.689-9C>G
|
|
|
NM_054012.4(ASS1):c.693C>T (p.Val231=)
|
|
|
NM_054012.4(ASS1):c.696T>C (p.Pro232=)
|
|
|
NM_054012.4(ASS1):c.714C>G (p.Val238=)
|
rs1252459333
|
|
NM_054012.4(ASS1):c.714C>T (p.Val238=)
|
rs1252459333
|
|
NM_054012.4(ASS1):c.720T>C (p.Asp240=)
|
rs2118839526
|
|
NM_054012.4(ASS1):c.723C>G (p.Gly241=)
|
|
|
NM_054012.4(ASS1):c.729C>A (p.Thr243=)
|
rs370892743
|
|
NM_054012.4(ASS1):c.729C>G (p.Thr243=)
|
rs370892743
|
|
NM_054012.4(ASS1):c.729C>T (p.Thr243=)
|
rs370892743
|
|
NM_054012.4(ASS1):c.738C>T (p.Thr246=)
|
rs2118839595
|
|
NM_054012.4(ASS1):c.742T>C (p.Leu248=)
|
|
|
NM_054012.4(ASS1):c.753C>T (p.Phe251=)
|
rs2118839625
|
|
NM_054012.4(ASS1):c.759C>T (p.Tyr253=)
|
rs1588495489
|
|
NM_054012.4(ASS1):c.760C>T (p.Leu254=)
|
|
|
NM_054012.4(ASS1):c.773+12C>T
|
|
|
NM_054012.4(ASS1):c.773+18T>C
|
|
|
NM_054012.4(ASS1):c.773+20T>C
|
|
|
NM_054012.4(ASS1):c.773+4_773+31dup
|
rs768271017
|
|
NM_054012.4(ASS1):c.773+8T>C
|
rs1588495530
|
|
NM_054012.4(ASS1):c.774-10C>T
|
rs2118841498
|
|
NM_054012.4(ASS1):c.774-15C>T
|
|
|
NM_054012.4(ASS1):c.774-20T>C
|
|
|
NM_054012.4(ASS1):c.774-4A>G
|
|
|
NM_054012.4(ASS1):c.774-5C>G
|
|
|
NM_054012.4(ASS1):c.774-5C>T
|
rs767417181
|
|
NM_054012.4(ASS1):c.774-7C>T
|
|
|
NM_054012.4(ASS1):c.789G>A (p.Val263=)
|
rs1419381608
|
|
NM_054012.4(ASS1):c.801C>T (p.Asp267=)
|
|
|
NM_054012.4(ASS1):c.804C>T (p.Ile268=)
|
rs773540764
|
|
NM_054012.4(ASS1):c.807G>T (p.Val269=)
|
rs1371433843
|
|
NM_054012.4(ASS1):c.813C>T (p.Asn271=)
|
rs1361123853
|
|
NM_054012.4(ASS1):c.838+12C>A
|
|
|
NM_054012.4(ASS1):c.838+12C>T
|
|
|
NM_054012.4(ASS1):c.838+14G>A
|
|
|
NM_054012.4(ASS1):c.838+15C>A
|
|
|
NM_054012.4(ASS1):c.838+16C>T
|
|
|
NM_054012.4(ASS1):c.838+19C>T
|
|
|
NM_054012.4(ASS1):c.838+23_838+34del
|
|
|
NM_054012.4(ASS1):c.839-19T>C
|
|
|
NM_054012.4(ASS1):c.839-7T>C
|
|
|
NM_054012.4(ASS1):c.840T>C (p.Gly280=)
|
rs1588503529
|
|
NM_054012.4(ASS1):c.846C>T (p.Tyr282=)
|
rs549085827
|
|
NM_054012.4(ASS1):c.867C>T (p.Ile289=)
|
rs2118864084
|
|
NM_054012.4(ASS1):c.882T>C (p.His294=)
|
|
|
NM_054012.4(ASS1):c.891C>A (p.Ile297=)
|
|
|
NM_054012.4(ASS1):c.894G>A (p.Glu298=)
|
|
|
NM_054012.4(ASS1):c.897C>T (p.Ala299=)
|
|
|
NM_054012.4(ASS1):c.918G>A (p.Val306=)
|
rs773089581
|
|
NM_054012.4(ASS1):c.939G>C (p.Leu313=)
|
rs2118864322
|
|
NM_054012.4(ASS1):c.942C>G (p.Gly314=)
|
|
|
NM_054012.4(ASS1):c.958C>T (p.Leu320=)
|
rs2118864362
|
|
NM_054012.4(ASS1):c.970+11C>T
|
|
|
NM_054012.4(ASS1):c.970+16T>C
|
|
|
NM_054012.4(ASS1):c.971-11C>T
|
|
|
NM_054012.4(ASS1):c.971-6C>A
|
rs1238011342
|
|
NM_054012.4(ASS1):c.981C>T (p.His327=)
|
|
|
NM_054012.4(ASS1):c.984C>T (p.Ser328=)
|
rs1213934431
|
|
NM_058179.4(PSAT1):c.1002G>A (p.Gly334=)
|
|
|
NM_058179.4(PSAT1):c.1007+11C>T
|
|
|
NM_058179.4(PSAT1):c.1007+12T>G
|
|
|
NM_058179.4(PSAT1):c.1008-16T>C
|
|
|
NM_058179.4(PSAT1):c.1008-17A>G
|
|
|
NM_058179.4(PSAT1):c.1008-18G>C
|
|
|
NM_058179.4(PSAT1):c.1008-7A>G
|
|
|
NM_058179.4(PSAT1):c.1020C>T (p.Gly340=)
|
|
|
NM_058179.4(PSAT1):c.1026G>A (p.Arg342=)
|
|
|
NM_058179.4(PSAT1):c.1050A>G (p.Thr350=)
|
|
|
NM_058179.4(PSAT1):c.1071G>A (p.Leu357=)
|
|
|
NM_058179.4(PSAT1):c.108C>T (p.Gly36=)
|
|
|
NM_058179.4(PSAT1):c.1110A>C (p.Leu370=)
|
|
|
NM_058179.4(PSAT1):c.122-15T>C
|
|
|
NM_058179.4(PSAT1):c.122-9_122-5del
|
|
|
NM_058179.4(PSAT1):c.135G>A (p.Arg45=)
|
|
|
NM_058179.4(PSAT1):c.150C>T (p.Ala50=)
|
|
|
NM_058179.4(PSAT1):c.177T>A (p.Leu59=)
|
|
|
NM_058179.4(PSAT1):c.191+20A>G
|
rs2118628355
|
|
NM_058179.4(PSAT1):c.191+8T>A
|
|
|
NM_058179.4(PSAT1):c.192-16C>G
|
|
|
NM_058179.4(PSAT1):c.192-17C>T
|
|
|
NM_058179.4(PSAT1):c.198T>A (p.Val66=)
|
rs2118637091
|
|
NM_058179.4(PSAT1):c.267C>T (p.Asn89=)
|
|
|
NM_058179.4(PSAT1):c.270C>G (p.Leu90=)
|
rs775726256
|
|
NM_058179.4(PSAT1):c.294T>C (p.Cys98=)
|
|
|
NM_058179.4(PSAT1):c.297T>A (p.Ala99=)
|
rs3739474
|
|
NM_058179.4(PSAT1):c.324A>C (p.Ser108=)
|
|
|
NM_058179.4(PSAT1):c.333C>T (p.Ala111=)
|
|
|
NM_058179.4(PSAT1):c.357G>A (p.Gly119=)
|
|
|
NM_058179.4(PSAT1):c.398-12C>T
|
rs1217607470
|
|
NM_058179.4(PSAT1):c.398-19A>G
|
rs1828181631
|
|
NM_058179.4(PSAT1):c.435T>C (p.Asp145=)
|
|
|
NM_058179.4(PSAT1):c.444C>T (p.Tyr148=)
|
|
|
NM_058179.4(PSAT1):c.49C>T (p.Leu17=)
|
|
|
NM_058179.4(PSAT1):c.501T>C (p.Asp167=)
|
|
|
NM_058179.4(PSAT1):c.543C>T (p.Phe181=)
|
|
|
NM_058179.4(PSAT1):c.546G>A (p.Leu182=)
|
rs772396082
|
|
NM_058179.4(PSAT1):c.54G>A (p.Pro18=)
|
rs763694865
|
|
NM_058179.4(PSAT1):c.54G>T (p.Pro18=)
|
|
|
NM_058179.4(PSAT1):c.571-11C>G
|
rs1828215906
|
|
NM_058179.4(PSAT1):c.571-15C>A
|
|
|
NM_058179.4(PSAT1):c.60+10C>T
|
|
|
NM_058179.4(PSAT1):c.60+20C>A
|
rs2118610712
|
|
NM_058179.4(PSAT1):c.60+9C>G
|
rs2118610658
|
|
NM_058179.4(PSAT1):c.600G>A (p.Lys200=)
|
|
|
NM_058179.4(PSAT1):c.61-17C>G
|
rs1420720400
|
|
NM_058179.4(PSAT1):c.618G>A (p.Gly206=)
|
|
|
NM_058179.4(PSAT1):c.624C>G (p.Thr208=)
|
rs140723816
|
|
NM_058179.4(PSAT1):c.624C>T (p.Thr208=)
|
|
|
NM_058179.4(PSAT1):c.645C>T (p.Asp215=)
|
|
|
NM_058179.4(PSAT1):c.649C>T (p.Leu217=)
|
|
|
NM_058179.4(PSAT1):c.660C>G (p.Ala220=)
|
|
|
NM_058179.4(PSAT1):c.669G>A (p.Glu223=)
|
rs2118651074
|
|
NM_058179.4(PSAT1):c.687A>G (p.Glu229=)
|
|
|
NM_058179.4(PSAT1):c.720C>T (p.Tyr240=)
|
rs2118651460
|
|
NM_058179.4(PSAT1):c.726G>T (p.Thr242=)
|
|
|
NM_058179.4(PSAT1):c.741-18_741-17delinsAC
|
rs2118681211
|
|
NM_058179.4(PSAT1):c.741-19_741-18insA
|
|
|
NM_058179.4(PSAT1):c.741-7A>C
|
rs747801091
|
|
NM_058179.4(PSAT1):c.741-7A>G
|
rs747801091
|
|
NM_058179.4(PSAT1):c.741-8C>G
|
|
|
NM_058179.4(PSAT1):c.747C>T (p.Tyr249=)
|
|
|
NM_058179.4(PSAT1):c.762T>C (p.Val254=)
|
|
|
NM_058179.4(PSAT1):c.816C>T (p.Ser272=)
|
|
|
NM_058179.4(PSAT1):c.831A>G (p.Thr277=)
|
rs1462773959
|
|
NM_058179.4(PSAT1):c.861A>T (p.Gly287=)
|
|
|
NM_058179.4(PSAT1):c.869+11G>A
|
|
|
NM_058179.4(PSAT1):c.869+12G>C
|
|
|
NM_058179.4(PSAT1):c.869+8A>C
|
|
|
NM_058179.4(PSAT1):c.870-15A>G
|
|
|
NM_058179.4(PSAT1):c.912A>G (p.Pro304=)
|
|
|
NM_058179.4(PSAT1):c.957A>G (p.Arg319=)
|
|
|
NM_058179.4(PSAT1):c.99A>G (p.Lys33=)
|
|
|
NM_058179.4(PSAT1):c.9C>T (p.Ala3=)
|
rs2118610369
|
|
NM_145261.4(DNAJC19):c.111T>C (p.Phe37=)
|
|
|
NM_145261.4(DNAJC19):c.120A>T (p.Leu40=)
|
|
|
NM_145261.4(DNAJC19):c.129+7C>T
|
rs2108509597
|
|
NM_145261.4(DNAJC19):c.130-4T>C
|
|
|
NM_145261.4(DNAJC19):c.150T>C (p.Tyr50=)
|
|
|
NM_145261.4(DNAJC19):c.159G>C (p.Gly53=)
|
|
|
NM_145261.4(DNAJC19):c.209+11C>T
|
rs374496383
|
|
NM_145261.4(DNAJC19):c.209+19T>C
|
|
|
NM_145261.4(DNAJC19):c.210-12T>A
|
|
|
NM_145261.4(DNAJC19):c.210-14_210-13del
|
rs757422860
|
|
NM_145261.4(DNAJC19):c.210-18A>G
|
|
|
NM_145261.4(DNAJC19):c.210-4T>C
|
|
|
NM_145261.4(DNAJC19):c.280+15A>C
|
|
|
NM_145261.4(DNAJC19):c.280+19C>A
|
rs1203314065
|
|
NM_145261.4(DNAJC19):c.281-15T>G
|
|
|
NM_145261.4(DNAJC19):c.281-21_281-19del
|
|
|
NM_145261.4(DNAJC19):c.281-21_281-20del
|
|
|
NM_145261.4(DNAJC19):c.281-4A>G
|
|
|
NM_145261.4(DNAJC19):c.281-5T>A
|
rs766954639
|
|
NM_145261.4(DNAJC19):c.288T>G (p.Ser96=)
|
rs2108506993
|
|
NM_145261.4(DNAJC19):c.294T>C (p.Tyr98=)
|
|
|
NM_145261.4(DNAJC19):c.3+13T>C
|
rs2108511019
|
|
NM_145261.4(DNAJC19):c.333A>G (p.Glu111=)
|
|
|
NM_145261.4(DNAJC19):c.55+10T>C
|
|
|
NM_145261.4(DNAJC19):c.55+20A>T
|
rs1577025780
|
|
NM_145261.4(DNAJC19):c.56-17G>C
|
|
|
NM_145261.4(DNAJC19):c.56-7G>T
|
|
|
NM_145261.4(DNAJC19):c.57C>T (p.Gly19=)
|
|
|
NM_145261.4(DNAJC19):c.63C>T (p.Tyr21=)
|
rs145786060
|
|
NM_145261.4(DNAJC19):c.84T>C (p.His28=)
|
|
|
NM_152419.3(HGSNAT):c.1005T>A (p.Leu335=)
|
|
|
NM_152419.3(HGSNAT):c.1012+14C>A
|
|
|
NM_152419.3(HGSNAT):c.1012+14C>T
|
|
|
NM_152419.3(HGSNAT):c.1012+15C>T
|
|
|
NM_152419.3(HGSNAT):c.1012+19T>C
|
|
|
NM_152419.3(HGSNAT):c.1012+7A>G
|
|
|
NM_152419.3(HGSNAT):c.1012+7dup
|
|
|
NM_152419.3(HGSNAT):c.1012+8C>A
|
|
|
NM_152419.3(HGSNAT):c.1012+8del
|
rs2130766762
|
|
NM_152419.3(HGSNAT):c.1013-12T>C
|
|
|
NM_152419.3(HGSNAT):c.1013-15_1013-14del
|
|
|
NM_152419.3(HGSNAT):c.1013-20C>T
|
rs1804147010
|
|
NM_152419.3(HGSNAT):c.1013-4G>A
|
rs1260943762
|
|
NM_152419.3(HGSNAT):c.1013-9C>G
|
rs2130783567
|
|
NM_152419.3(HGSNAT):c.1026G>A (p.Lys342=)
|
|
|
NM_152419.3(HGSNAT):c.102G>A (p.Gln34=)
|
|
|
NM_152419.3(HGSNAT):c.1050G>A (p.Gln350=)
|
rs2130783705
|
|
NM_152419.3(HGSNAT):c.1051C>A (p.Arg351=)
|
|
|
NM_152419.3(HGSNAT):c.1054T>C (p.Leu352=)
|
|
|
NM_152419.3(HGSNAT):c.105C>G (p.Ala35=)
|
|
|
NM_152419.3(HGSNAT):c.105C>T (p.Ala35=)
|
|
|
NM_152419.3(HGSNAT):c.1062G>A (p.Val354=)
|
|
|
NM_152419.3(HGSNAT):c.1065A>T (p.Thr355=)
|
|
|
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=)
|
rs757385876
|
|
NM_152419.3(HGSNAT):c.1089G>A (p.Glu363=)
|
|
|
NM_152419.3(HGSNAT):c.108G>C (p.Ala36=)
|
rs886062952
|
|
NM_152419.3(HGSNAT):c.1095C>T (p.Leu365=)
|
|
|
NM_152419.3(HGSNAT):c.1101T>C (p.Ala367=)
|
|
|
NM_152419.3(HGSNAT):c.1104A>G (p.Lys368=)
|
|
|
NM_152419.3(HGSNAT):c.1110G>C (p.Val370=)
|
|
|
NM_152419.3(HGSNAT):c.1116A>G (p.Glu372=)
|
rs781052651
|
|
NM_152419.3(HGSNAT):c.1125C>G (p.Ala375=)
|
rs987062801
|
|
NM_152419.3(HGSNAT):c.1125C>T (p.Ala375=)
|
rs987062801
|
|
NM_152419.3(HGSNAT):c.1128+11A>G
|
|
|
NM_152419.3(HGSNAT):c.1128+13G>A
|
|
|
NM_152419.3(HGSNAT):c.1128+14T>A
|
|
|
NM_152419.3(HGSNAT):c.1128+16T>C
|
|
|
NM_152419.3(HGSNAT):c.1128+9C>A
|
|
|
NM_152419.3(HGSNAT):c.1129-10C>A
|
|
|
NM_152419.3(HGSNAT):c.1129-7C>A
|
rs756262049
|
|
NM_152419.3(HGSNAT):c.1129-9C>T
|
|
|
NM_152419.3(HGSNAT):c.1158C>T (p.Ile386=)
|
|
|
NM_152419.3(HGSNAT):c.115C>A (p.Arg39=)
|
|
|
NM_152419.3(HGSNAT):c.1161G>T (p.Thr387=)
|
rs761414980
|
|
NM_152419.3(HGSNAT):c.1173C>T (p.Pro391=)
|
rs1563381683
|
|
NM_152419.3(HGSNAT):c.118+10C>T
|
rs768117824
|
|
NM_152419.3(HGSNAT):c.118+11A>C
|
|
|
NM_152419.3(HGSNAT):c.118+11A>G
|
|
|
NM_152419.3(HGSNAT):c.118+12C>G
|
rs1408305187
|
|
NM_152419.3(HGSNAT):c.118+12C>T
|
|
|
NM_152419.3(HGSNAT):c.118+13C>A
|
|
|
NM_152419.3(HGSNAT):c.118+13C>G
|
|
|
NM_152419.3(HGSNAT):c.118+13C>T
|
|
|
NM_152419.3(HGSNAT):c.118+16C>G
|
rs1457633859
|
|
NM_152419.3(HGSNAT):c.118+16C>T
|
|
|
NM_152419.3(HGSNAT):c.118+18A>C
|
|
|
NM_152419.3(HGSNAT):c.118+18A>G
|
|
|
NM_152419.3(HGSNAT):c.118+19C>T
|
|
|
NM_152419.3(HGSNAT):c.118+20C>G
|
rs1802485942
|
|
NM_152419.3(HGSNAT):c.118+20C>T
|
rs1802485942
|
|
NM_152419.3(HGSNAT):c.118+7G>A
|
rs1298192155
|
|
NM_152419.3(HGSNAT):c.118+7G>C
|
|
|
NM_152419.3(HGSNAT):c.118+8C>G
|
rs2130648798
|
|
NM_152419.3(HGSNAT):c.118+8C>T
|
rs2130648798
|
|
NM_152419.3(HGSNAT):c.118+9A>C
|
|
|
NM_152419.3(HGSNAT):c.1182G>A (p.Leu394=)
|
|
|
NM_152419.3(HGSNAT):c.1182G>C (p.Leu394=)
|
rs1218241477
|
|
NM_152419.3(HGSNAT):c.1185C>T (p.Leu395=)
|
|
|
NM_152419.3(HGSNAT):c.119-12A>G
|
|
|
NM_152419.3(HGSNAT):c.119-5A>G
|
rs756141376
|
|
NM_152419.3(HGSNAT):c.119-9T>C
|
rs1346109871
|
|
NM_152419.3(HGSNAT):c.1191G>C (p.Leu397=)
|
rs1563381716
|
|
NM_152419.3(HGSNAT):c.1195C>T (p.Leu399=)
|
|
|
NM_152419.3(HGSNAT):c.1221A>G (p.Thr407=)
|
|
|
NM_152419.3(HGSNAT):c.1227C>T (p.Leu409=)
|
rs2130805422
|
|
NM_152419.3(HGSNAT):c.1228C>T (p.Leu410=)
|
|
|
NM_152419.3(HGSNAT):c.1230G>T (p.Leu410=)
|
rs1356136152
|
|
NM_152419.3(HGSNAT):c.1248T>C (p.Pro416=)
|
|
|
NM_152419.3(HGSNAT):c.1250+10C>A
|
|
|
NM_152419.3(HGSNAT):c.1250+10C>T
|
rs2130805528
|
|
NM_152419.3(HGSNAT):c.1250+12C>T
|
rs1804532623
|
|
NM_152419.3(HGSNAT):c.1250+14T>C
|
|
|
NM_152419.3(HGSNAT):c.1250+15G>C
|
|
|
NM_152419.3(HGSNAT):c.1250+16G>A
|
|
|
NM_152419.3(HGSNAT):c.1250+17G>T
|
|
|
NM_152419.3(HGSNAT):c.1250+18G>A
|
|
|
NM_152419.3(HGSNAT):c.1250+7G>C
|
rs74795999
|
|
NM_152419.3(HGSNAT):c.1251-14T>C
|
|
|
NM_152419.3(HGSNAT):c.1251-4C>G
|
|
|
NM_152419.3(HGSNAT):c.1251-6T>C
|
rs2130807215
|
|
NM_152419.3(HGSNAT):c.1251-8C>A
|
|
|
NM_152419.3(HGSNAT):c.1251-9C>T
|
|
|
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=)
|
rs2130807297
|
|
NM_152419.3(HGSNAT):c.1275T>C (p.Ile425=)
|
rs1586751999
|
|
NM_152419.3(HGSNAT):c.1281T>C (p.Asp427=)
|
|
|
NM_152419.3(HGSNAT):c.1299T>C (p.Asn433=)
|
rs2130807411
|
|
NM_152419.3(HGSNAT):c.12G>C (p.Ala4=)
|
rs1018475767
|
|
NM_152419.3(HGSNAT):c.12G>T (p.Ala4=)
|
rs1018475767
|
|
NM_152419.3(HGSNAT):c.1314T>C (p.Ala438=)
|
rs776703067
|
|
NM_152419.3(HGSNAT):c.132A>G (p.Lys44=)
|
rs2130677148
|
|
NM_152419.3(HGSNAT):c.1338G>C (p.Leu446=)
|
rs2130807561
|
|
NM_152419.3(HGSNAT):c.1344A>G (p.Gly448=)
|
|
|
NM_152419.3(HGSNAT):c.1353C>T (p.His451=)
|
|
|
NM_152419.3(HGSNAT):c.1371T>A (p.Ser457=)
|
rs947648591
|
|
NM_152419.3(HGSNAT):c.1377+11C>G
|
|
|
NM_152419.3(HGSNAT):c.1377+13C>A
|
|
|
NM_152419.3(HGSNAT):c.1377+13C>T
|
|
|
NM_152419.3(HGSNAT):c.1377+14G>C
|
|
|
NM_152419.3(HGSNAT):c.1377+15A>G
|
|
|
NM_152419.3(HGSNAT):c.1377+15A>T
|
|
|
NM_152419.3(HGSNAT):c.1377+7G>A
|
rs1225445756
|
|
NM_152419.3(HGSNAT):c.1377+9G>C
|
rs2130807739
|
|
NM_152419.3(HGSNAT):c.1378-13T>G
|
rs2130810544
|
|
NM_152419.3(HGSNAT):c.1378-17T>C
|
|
|
NM_152419.3(HGSNAT):c.1380A>T (p.Val460=)
|
|
|
NM_152419.3(HGSNAT):c.138T>C (p.His46=)
|
|
|
NM_152419.3(HGSNAT):c.1392C>A (p.Thr464=)
|
rs767972481
|
|
NM_152419.3(HGSNAT):c.1392C>G (p.Thr464=)
|
rs767972481
|
|
NM_152419.3(HGSNAT):c.1401C>G (p.Ala467=)
|
|
|
NM_152419.3(HGSNAT):c.1401C>T (p.Ala467=)
|
rs1337915028
|
|
NM_152419.3(HGSNAT):c.1404T>C (p.Tyr468=)
|
|
|
NM_152419.3(HGSNAT):c.1416C>T (p.Gly472=)
|
|
|
NM_152419.3(HGSNAT):c.1419C>T (p.Ile473=)
|
|
|
NM_152419.3(HGSNAT):c.1431C>T (p.Ile477=)
|
|
|
NM_152419.3(HGSNAT):c.144G>A (p.Glu48=)
|
rs2130677225
|
|
NM_152419.3(HGSNAT):c.1452T>C (p.Phe484=)
|
|
|
NM_152419.3(HGSNAT):c.1453T>C (p.Leu485=)
|
|
|
NM_152419.3(HGSNAT):c.1455A>G (p.Leu485=)
|
|
|
NM_152419.3(HGSNAT):c.1464+10C>A
|
|
|
NM_152419.3(HGSNAT):c.1464+11A>C
|
|
|
NM_152419.3(HGSNAT):c.1464+11A>G
|
rs573124827
|
|
NM_152419.3(HGSNAT):c.1464+14_1464+18del
|
|
|
NM_152419.3(HGSNAT):c.1464+17T>C
|
|
|
NM_152419.3(HGSNAT):c.1464+9T>A
|
rs1804623128
|
|
NM_152419.3(HGSNAT):c.1465-15T>C
|
|
|
NM_152419.3(HGSNAT):c.1465-16G>A
|
rs2130819513
|
|
NM_152419.3(HGSNAT):c.1465-18C>T
|
|
|
NM_152419.3(HGSNAT):c.1465-19del
|
|
|
NM_152419.3(HGSNAT):c.1465-5T>C
|
rs2130819538
|
|
NM_152419.3(HGSNAT):c.1465-6C>T
|
|
|
NM_152419.3(HGSNAT):c.1465-7C>T
|
rs2130819532
|
|
NM_152419.3(HGSNAT):c.1465-9C>T
|
rs2130819526
|
|
NM_152419.3(HGSNAT):c.1473A>G (p.Lys491=)
|
rs2130819577
|
|
NM_152419.3(HGSNAT):c.1477C>T (p.Leu493=)
|
rs1804746503
|
|
NM_152419.3(HGSNAT):c.1479A>G (p.Leu493=)
|
rs751229126
|
|
NM_152419.3(HGSNAT):c.1480T>C (p.Leu494=)
|
|
|
NM_152419.3(HGSNAT):c.1485T>C (p.Tyr495=)
|
|
|
NM_152419.3(HGSNAT):c.1510C>T (p.Leu504=)
|
|
|
NM_152419.3(HGSNAT):c.1521C>T (p.Phe507=)
|
rs1280407859
|
|
NM_152419.3(HGSNAT):c.1533T>C (p.Cys511=)
|
|
|
NM_152419.3(HGSNAT):c.1536T>C (p.Cys512=)
|
|
|
NM_152419.3(HGSNAT):c.1542+12G>A
|
|
|
NM_152419.3(HGSNAT):c.1543-10C>G
|
|
|
NM_152419.3(HGSNAT):c.1543-10C>T
|
|
|
NM_152419.3(HGSNAT):c.1543-11C>A
|
rs1191230075
|
|
NM_152419.3(HGSNAT):c.1543-12T>G
|
rs768881526
|
|
NM_152419.3(HGSNAT):c.1543-16C>T
|
rs2130821050
|
|
NM_152419.3(HGSNAT):c.1543-19C>T
|
|
|
NM_152419.3(HGSNAT):c.1543-5T>G
|
|
|
NM_152419.3(HGSNAT):c.1545G>T (p.Gly515=)
|
|
|
NM_152419.3(HGSNAT):c.1548C>T (p.Leu516=)
|
|
|
NM_152419.3(HGSNAT):c.1557T>C (p.Val519=)
|
rs2130821179
|
|
NM_152419.3(HGSNAT):c.1558G>A (p.Ala520Thr)
|
rs541318695
|
|
NM_152419.3(HGSNAT):c.1566G>A (p.Thr522=)
|
|
|
NM_152419.3(HGSNAT):c.1566G>C (p.Thr522=)
|
|
|
NM_152419.3(HGSNAT):c.1613+8T>C
|
rs2130821361
|
|
NM_152419.3(HGSNAT):c.1614-11A>G
|
|
|
NM_152419.3(HGSNAT):c.1614-13C>T
|
rs2130821520
|
|
NM_152419.3(HGSNAT):c.1614-16C>T
|
|
|
NM_152419.3(HGSNAT):c.1614-18C>G
|
|
|
NM_152419.3(HGSNAT):c.1614-20G>A
|
|
|
NM_152419.3(HGSNAT):c.1614-5C>T
|
|
|
NM_152419.3(HGSNAT):c.1614-6T>A
|
|
|
NM_152419.3(HGSNAT):c.1614-6T>C
|
rs935366032
|
|
NM_152419.3(HGSNAT):c.1614-7C>T
|
|
|
NM_152419.3(HGSNAT):c.1614-9C>T
|
rs2130821536
|
|
NM_152419.3(HGSNAT):c.1617C>G (p.Ser539=)
|
rs767625503
|
|
NM_152419.3(HGSNAT):c.1617C>T (p.Ser539=)
|
rs767625503
|
|
NM_152419.3(HGSNAT):c.1626T>C (p.Tyr542=)
|
|
|
NM_152419.3(HGSNAT):c.1629C>T (p.Val543=)
|
rs1310490354
|
|
NM_152419.3(HGSNAT):c.1635G>A (p.Thr545=)
|
rs775897635
|
|
NM_152419.3(HGSNAT):c.1635G>C (p.Thr545=)
|
rs775897635
|
|
NM_152419.3(HGSNAT):c.1638C>A (p.Leu546=)
|
rs2130821674
|
|
NM_152419.3(HGSNAT):c.1641T>C (p.Ser547=)
|
|
|
NM_152419.3(HGSNAT):c.1644T>A (p.Ser548=)
|
rs1586758163
|
|
NM_152419.3(HGSNAT):c.1650C>T (p.Ala550=)
|
rs1586758179
|
|
NM_152419.3(HGSNAT):c.1671G>A (p.Leu557=)
|
rs369681926
|
|
NM_152419.3(HGSNAT):c.1677A>G (p.Pro559=)
|
rs2130821776
|
|
NM_152419.3(HGSNAT):c.1680T>G (p.Val560=)
|
rs2130821797
|
|
NM_152419.3(HGSNAT):c.168A>T (p.Leu56=)
|
|
|
NM_152419.3(HGSNAT):c.1692G>A (p.Lys564=)
|
|
|
NM_152419.3(HGSNAT):c.1704A>G (p.Thr568=)
|
rs1804781951
|
|
NM_152419.3(HGSNAT):c.1707A>G (p.Gly569=)
|
|
|
NM_152419.3(HGSNAT):c.1710C>A (p.Thr570=)
|
rs1469124590
|
|
NM_152419.3(HGSNAT):c.1710C>T (p.Thr570=)
|
rs1469124590
|
|
NM_152419.3(HGSNAT):c.1713A>T (p.Pro571=)
|
|
|
NM_152419.3(HGSNAT):c.171C>T (p.Leu57=)
|
|
|
NM_152419.3(HGSNAT):c.1722T>C (p.Tyr574=)
|
|
|
NM_152419.3(HGSNAT):c.1726+10C>T
|
|
|
NM_152419.3(HGSNAT):c.1726+13C>T
|
|
|
NM_152419.3(HGSNAT):c.1726+14A>G
|
|
|
NM_152419.3(HGSNAT):c.1726+15A>C
|
|
|
NM_152419.3(HGSNAT):c.1726+15A>G
|
|
|
NM_152419.3(HGSNAT):c.1726+17C>T
|
rs2130822028
|
|
NM_152419.3(HGSNAT):c.1726+18T>G
|
|
|
NM_152419.3(HGSNAT):c.1726+22dup
|
rs755106287
|
|
NM_152419.3(HGSNAT):c.1727-11C>G
|
rs1370309387
|
|
NM_152419.3(HGSNAT):c.1727-11C>T
|
|
|
NM_152419.3(HGSNAT):c.1727-14TC[3]
|
rs1804842925
|
|
NM_152419.3(HGSNAT):c.1727-15G>A
|
rs2130825457
|
|
NM_152419.3(HGSNAT):c.1727-17A>T
|
rs780686580
|
|
NM_152419.3(HGSNAT):c.1727-19G>A
|
rs369322408
|
|
NM_152419.3(HGSNAT):c.1727-19G>C
|
rs369322408
|
|
NM_152419.3(HGSNAT):c.1727-20T>C
|
|
|
NM_152419.3(HGSNAT):c.1727-4dup
|
|
|
NM_152419.3(HGSNAT):c.1727-5T>A
|
|
|
NM_152419.3(HGSNAT):c.1727-9C>T
|
|
|
NM_152419.3(HGSNAT):c.1746A>G (p.Val582=)
|
|
|
NM_152419.3(HGSNAT):c.1755C>T (p.Gly585=)
|
rs2130825582
|
|
NM_152419.3(HGSNAT):c.1758C>T (p.His586=)
|
rs1420418918
|
|
NM_152419.3(HGSNAT):c.1764G>A (p.Val588=)
|
rs765645520
|
|
NM_152419.3(HGSNAT):c.1776C>T (p.Tyr592=)
|
|
|
NM_152419.3(HGSNAT):c.1782C>G (p.Pro594=)
|
|
|
NM_152419.3(HGSNAT):c.1794G>A (p.Lys598=)
|
|
|
NM_152419.3(HGSNAT):c.1795C>T (p.Leu599=)
|
|
|
NM_152419.3(HGSNAT):c.1800G>A (p.Lys600=)
|
|
|
NM_152419.3(HGSNAT):c.1803C>T (p.Asp601=)
|
rs752160921
|
|
NM_152419.3(HGSNAT):c.1806C>T (p.Asn602=)
|
|
|
NM_152419.3(HGSNAT):c.180T>C (p.Asn60=)
|
|
|
NM_152419.3(HGSNAT):c.1818G>A (p.Lys606=)
|
|
|
NM_152419.3(HGSNAT):c.1824C>T (p.His608=)
|
rs2130825787
|
|
NM_152419.3(HGSNAT):c.183A>G (p.Glu61=)
|
rs2130677470
|
|
NM_152419.3(HGSNAT):c.1842C>A (p.Val614=)
|
rs374563604
|
|
NM_152419.3(HGSNAT):c.1845C>T (p.Ala615=)
|
rs768575788
|
|
NM_152419.3(HGSNAT):c.186T>A (p.Leu62=)
|
|
|
NM_152419.3(HGSNAT):c.186T>C (p.Leu62=)
|
rs1239460572
|
|
NM_152419.3(HGSNAT):c.1872C>T (p.Tyr624=)
|
rs946476629
|
|
NM_152419.3(HGSNAT):c.1878C>A (p.Leu626=)
|
|
|
NM_152419.3(HGSNAT):c.1890G>A (p.Lys630=)
|
|
|
NM_152419.3(HGSNAT):c.18G>A (p.Arg6=)
|
|
|
NM_152419.3(HGSNAT):c.195C>T (p.Thr65=)
|
rs1307220758
|
|
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=)
|
rs199816365
|
|
NM_152419.3(HGSNAT):c.210C>T (p.Tyr70=)
|
rs2130677640
|
|
NM_152419.3(HGSNAT):c.21G>A (p.Ala7=)
|
rs1297145817
|
|
NM_152419.3(HGSNAT):c.234+10A>C
|
|
|
NM_152419.3(HGSNAT):c.234+18C>T
|
rs1802743016
|
|
NM_152419.3(HGSNAT):c.234+20C>G
|
|
|
NM_152419.3(HGSNAT):c.234+20C>T
|
|
|
NM_152419.3(HGSNAT):c.234+8T>A
|
rs1205007842
|
|
NM_152419.3(HGSNAT):c.235-13C>G
|
rs2130713714
|
|
NM_152419.3(HGSNAT):c.235-16G>T
|
|
|
NM_152419.3(HGSNAT):c.235-18T>C
|
|
|
NM_152419.3(HGSNAT):c.235-19G>A
|
|
|
NM_152419.3(HGSNAT):c.235-19G>C
|
|
|
NM_152419.3(HGSNAT):c.235-4A>G
|
rs2130713747
|
|
NM_152419.3(HGSNAT):c.235-9T>G
|
rs913764481
|
|
NM_152419.3(HGSNAT):c.240G>A (p.Leu80=)
|
rs774674978
|
|
NM_152419.3(HGSNAT):c.249T>C (p.Val83=)
|
rs2130713807
|
|
NM_152419.3(HGSNAT):c.255A>G (p.Val85=)
|
|
|
NM_152419.3(HGSNAT):c.261T>C (p.Val87=)
|
rs1461875540
|
|
NM_152419.3(HGSNAT):c.264T>C (p.Pro88=)
|
rs2130713884
|
|
NM_152419.3(HGSNAT):c.273A>G (p.Pro91=)
|
rs2130713942
|
|
NM_152419.3(HGSNAT):c.279A>G (p.Ala93=)
|
rs766369405
|
|
NM_152419.3(HGSNAT):c.27C>A (p.Ala9=)
|
rs1802478612
|
|
NM_152419.3(HGSNAT):c.291T>C (p.Ser97=)
|
rs777514582
|
|
NM_152419.3(HGSNAT):c.294T>C (p.Ala98=)
|
rs2130714083
|
|
NM_152419.3(HGSNAT):c.300T>C (p.Ala100=)
|
rs2130714138
|
|
NM_152419.3(HGSNAT):c.306T>C (p.Ser102=)
|
rs772490276
|
|
NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)
|
|
|
NM_152419.3(HGSNAT):c.315C>T (p.Thr105=)
|
rs1586712156
|
|
NM_152419.3(HGSNAT):c.331C>T (p.Leu111=)
|
rs2130714335
|
|
NM_152419.3(HGSNAT):c.333G>T (p.Leu111=)
|
|
|
NM_152419.3(HGSNAT):c.345C>T (p.Asp115=)
|
rs2130714421
|
|
NM_152419.3(HGSNAT):c.34C>T (p.Leu12=)
|
|
|
NM_152419.3(HGSNAT):c.357G>A (p.Glu119=)
|
|
|
NM_152419.3(HGSNAT):c.371+11G>C
|
|
|
NM_152419.3(HGSNAT):c.371+16G>C
|
|
|
NM_152419.3(HGSNAT):c.371+17T>C
|
|
|
NM_152419.3(HGSNAT):c.371+8C>T
|
rs1803172839
|
|
NM_152419.3(HGSNAT):c.371+9C>T
|
rs1180753142
|
|
NM_152419.3(HGSNAT):c.372-11A>T
|
|
|
NM_152419.3(HGSNAT):c.372-12T>C
|
|
|
NM_152419.3(HGSNAT):c.372-13C>T
|
|
|
NM_152419.3(HGSNAT):c.372-4G>T
|
|
|
NM_152419.3(HGSNAT):c.372-8G>A
|
rs2130715102
|
|
NM_152419.3(HGSNAT):c.372-9T>C
|
|
|
NM_152419.3(HGSNAT):c.378A>G (p.Glu126=)
|
|
|
NM_152419.3(HGSNAT):c.37C>T (p.Leu13=)
|
rs2130647858
|
|
NM_152419.3(HGSNAT):c.402C>T (p.Asn134=)
|
|
|
NM_152419.3(HGSNAT):c.405T>C (p.Tyr135=)
|
rs1803181529
|
|
NM_152419.3(HGSNAT):c.408T>C (p.Ser136=)
|
|
|
NM_152419.3(HGSNAT):c.411C>T (p.Leu137=)
|
rs1051098032
|
|
NM_152419.3(HGSNAT):c.412T>C (p.Leu138=)
|
rs1281457648
|
|
NM_152419.3(HGSNAT):c.417A>G (p.Val139=)
|
rs2130715314
|
|
NM_152419.3(HGSNAT):c.420G>A (p.Lys140=)
|
|
|
NM_152419.3(HGSNAT):c.423C>T (p.Asn141=)
|
|
|
NM_152419.3(HGSNAT):c.429T>C (p.His143=)
|
rs2130715366
|
|
NM_152419.3(HGSNAT):c.42C>A (p.Ala14=)
|
|
|
NM_152419.3(HGSNAT):c.42C>T (p.Ala14=)
|
|
|
NM_152419.3(HGSNAT):c.435A>G (p.Gly145=)
|
|
|
NM_152419.3(HGSNAT):c.45G>C (p.Ala15=)
|
rs1351688097
|
|
NM_152419.3(HGSNAT):c.483T>C (p.Asp161=)
|
rs1803185540
|
|
NM_152419.3(HGSNAT):c.48C>T (p.Ser16=)
|
|
|
NM_152419.3(HGSNAT):c.493+14C>G
|
|
|
NM_152419.3(HGSNAT):c.493+14C>T
|
|
|
NM_152419.3(HGSNAT):c.493+16C>G
|
|
|
NM_152419.3(HGSNAT):c.494-12C>T
|
rs776299194
|
|
NM_152419.3(HGSNAT):c.494-13T>C
|
|
|
NM_152419.3(HGSNAT):c.494-15C>A
|
rs1033103288
|
|
NM_152419.3(HGSNAT):c.494-16T>C
|
|
|
NM_152419.3(HGSNAT):c.494-4C>A
|
rs2130721854
|
|
NM_152419.3(HGSNAT):c.494-8T>A
|
|
|
NM_152419.3(HGSNAT):c.495T>C (p.Pro165=)
|
rs2130721874
|
|
NM_152419.3(HGSNAT):c.510C>T (p.Phe170=)
|
|
|
NM_152419.3(HGSNAT):c.51G>A (p.Val17=)
|
rs1229423417
|
|
NM_152419.3(HGSNAT):c.543C>T (p.Ser181=)
|
rs781682753
|
|
NM_152419.3(HGSNAT):c.547C>T (p.Leu183=)
|
|
|
NM_152419.3(HGSNAT):c.54G>A (p.Leu18=)
|
|
|
NM_152419.3(HGSNAT):c.552G>A (p.Arg184=)
|
|
|
NM_152419.3(HGSNAT):c.563+18G>A
|
|
|
NM_152419.3(HGSNAT):c.563+18G>C
|
|
|
NM_152419.3(HGSNAT):c.563+8A>G
|
rs2130722155
|
|
NM_152419.3(HGSNAT):c.563+9T>C
|
|
|
NM_152419.3(HGSNAT):c.564-10T>A
|
rs2130741799
|
|
NM_152419.3(HGSNAT):c.564-4T>G
|
rs2130741836
|
|
NM_152419.3(HGSNAT):c.564-8A>G
|
rs1803532488
|
|
NM_152419.3(HGSNAT):c.564-8_564-5del
|
|
|
NM_152419.3(HGSNAT):c.570T>C (p.Asp190=)
|
rs2130741857
|
|
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=)
|
rs1563366828
|
|
NM_152419.3(HGSNAT):c.579C>T (p.Asn193=)
|
|
|
NM_152419.3(HGSNAT):c.57C>T (p.Ser19=)
|
|
|
NM_152419.3(HGSNAT):c.582T>C (p.Asn194=)
|
|
|
NM_152419.3(HGSNAT):c.600A>C (p.Ile200=)
|
rs2130741996
|
|
NM_152419.3(HGSNAT):c.618T>C (p.Asp206=)
|
|
|
NM_152419.3(HGSNAT):c.621C>T (p.Arg207=)
|
|
|
NM_152419.3(HGSNAT):c.624C>T (p.Leu208=)
|
|
|
NM_152419.3(HGSNAT):c.633+10G>A
|
|
|
NM_152419.3(HGSNAT):c.633+13A>G
|
|
|
NM_152419.3(HGSNAT):c.633+17A>G
|
|
|
NM_152419.3(HGSNAT):c.633+19A>G
|
|
|
NM_152419.3(HGSNAT):c.633+9T>C
|
rs2130742161
|
|
NM_152419.3(HGSNAT):c.634-16C>T
|
|
|
NM_152419.3(HGSNAT):c.634-18C>G
|
|
|
NM_152419.3(HGSNAT):c.634-20T>G
|
|
|
NM_152419.3(HGSNAT):c.634-8T>A
|
rs2130745626
|
|
NM_152419.3(HGSNAT):c.642A>T (p.Gly214=)
|
rs1321515975
|
|
NM_152419.3(HGSNAT):c.651C>T (p.Ser217=)
|
rs2130745723
|
|
NM_152419.3(HGSNAT):c.652A>C (p.Arg218=)
|
rs541981232
|
|
NM_152419.3(HGSNAT):c.657A>G (p.Thr219=)
|
|
|
NM_152419.3(HGSNAT):c.66G>A (p.Leu22=)
|
rs2130648121
|
|
NM_152419.3(HGSNAT):c.672T>C (p.Gly224=)
|
rs757652049
|
|
NM_152419.3(HGSNAT):c.672T>G (p.Gly224=)
|
rs757652049
|
|
NM_152419.3(HGSNAT):c.675T>C (p.Asp225=)
|
rs951025520
|
|
NM_152419.3(HGSNAT):c.67C>T (p.Leu23=)
|
rs1198688385
|
|
NM_152419.3(HGSNAT):c.681G>A (p.Gln227=)
|
|
|
NM_152419.3(HGSNAT):c.699A>C (p.Leu233=)
|
rs756091468
|
|
NM_152419.3(HGSNAT):c.69G>A (p.Leu23=)
|
rs1563349632
|
|
NM_152419.3(HGSNAT):c.6C>T (p.Ser2=)
|
rs535427008
|
|
NM_152419.3(HGSNAT):c.705C>G (p.Ala235=)
|
|
|
NM_152419.3(HGSNAT):c.705C>T (p.Ala235=)
|
|
|
NM_152419.3(HGSNAT):c.706C>T (p.Leu236=)
|
rs1051692363
|
|
NM_152419.3(HGSNAT):c.708G>A (p.Leu236=)
|
rs2130746047
|
|
NM_152419.3(HGSNAT):c.714C>G (p.Pro238=)
|
rs2130746108
|
|
NM_152419.3(HGSNAT):c.720C>T (p.Leu240=)
|
rs2130746165
|
|
NM_152419.3(HGSNAT):c.72C>T (p.Ala24=)
|
rs2130648208
|
|
NM_152419.3(HGSNAT):c.738C>T (p.Phe246=)
|
|
|
NM_152419.3(HGSNAT):c.743+10C>T
|
rs2130746341
|
|
NM_152419.3(HGSNAT):c.743+13C>G
|
|
|
NM_152419.3(HGSNAT):c.743+17G>A
|
rs1245020116
|
|
NM_152419.3(HGSNAT):c.743+7G>A
|
rs750677179
|
|
NM_152419.3(HGSNAT):c.744-10C>A
|
rs1803651376
|
|
NM_152419.3(HGSNAT):c.744-15G>T
|
|
|
NM_152419.3(HGSNAT):c.744-18T>A
|
|
|
NM_152419.3(HGSNAT):c.744-19C>G
|
|
|
NM_152419.3(HGSNAT):c.744-20T>G
|
|
|
NM_152419.3(HGSNAT):c.744-4C>G
|
rs1312600583
|
|
NM_152419.3(HGSNAT):c.744-5_744-3del
|
rs776162529
|
|
NM_152419.3(HGSNAT):c.744-6T>C
|
|
|
NM_152419.3(HGSNAT):c.750T>C (p.Ala250=)
|
|
|
NM_152419.3(HGSNAT):c.75C>T (p.Pro25=)
|
|
|
NM_152419.3(HGSNAT):c.768T>C (p.Phe256=)
|
rs1188844284
|
|
NM_152419.3(HGSNAT):c.771C>T (p.Val257=)
|
|
|
NM_152419.3(HGSNAT):c.78C>T (p.Gly26=)
|
rs1260742657
|
|
NM_152419.3(HGSNAT):c.792T>C (p.Tyr264=)
|
|
|
NM_152419.3(HGSNAT):c.807T>C (p.His269=)
|
|
|
NM_152419.3(HGSNAT):c.81C>T (p.Gly27=)
|
|
|
NM_152419.3(HGSNAT):c.820+19G>C
|
|
|
NM_152419.3(HGSNAT):c.820+7T>C
|
|
|
NM_152419.3(HGSNAT):c.821-14T>C
|
|
|
NM_152419.3(HGSNAT):c.821-20G>T
|
|
|
NM_152419.3(HGSNAT):c.821-26G>A
|
|
|
NM_152419.3(HGSNAT):c.821-27T>G
|
rs999398262
|
|
NM_152419.3(HGSNAT):c.821-30T>C
|
rs2130754670
|
|
NM_152419.3(HGSNAT):c.821-31C>T
|
|
|
NM_152419.3(HGSNAT):c.821-4G>T
|
rs2130754740
|
|
NM_152419.3(HGSNAT):c.821-5del
|
|
|
NM_152419.3(HGSNAT):c.821-9G>A
|
rs576856787
|
|
NM_152419.3(HGSNAT):c.821-9G>C
|
|
|
NM_152419.3(HGSNAT):c.821-9G>T
|
rs576856787
|
|
NM_152419.3(HGSNAT):c.823C>T (p.Leu275=)
|
|
|
NM_152419.3(HGSNAT):c.851+10C>G
|
rs778394235
|
|
NM_152419.3(HGSNAT):c.851+10C>T
|
rs778394235
|
|
NM_152419.3(HGSNAT):c.851+11G>A
|
|
|
NM_152419.3(HGSNAT):c.851+11G>C
|
|
|
NM_152419.3(HGSNAT):c.851+14C>G
|
rs2130754963
|
|
NM_152419.3(HGSNAT):c.851+16G>C
|
|
|
NM_152419.3(HGSNAT):c.851+16G>T
|
rs1049678342
|
|
NM_152419.3(HGSNAT):c.851+17C>T
|
|
|
NM_152419.3(HGSNAT):c.851+19C>A
|
|
|
NM_152419.3(HGSNAT):c.851+19C>G
|
|
|
NM_152419.3(HGSNAT):c.851+19C>T
|
rs1803714783
|
|
NM_152419.3(HGSNAT):c.852-13A>G
|
rs2130766120
|
|
NM_152419.3(HGSNAT):c.852-16A>G
|
|
|
NM_152419.3(HGSNAT):c.852-7T>G
|
rs2130766132
|
|
NM_152419.3(HGSNAT):c.852-8C>G
|
|
|
NM_152419.3(HGSNAT):c.888G>C (p.Ser296=)
|
|
|
NM_152419.3(HGSNAT):c.909G>A (p.Arg303=)
|
|
|
NM_152419.3(HGSNAT):c.90G>C (p.Gly30=)
|
rs1187482453
|
|
NM_152419.3(HGSNAT):c.912G>T (p.Gly304=)
|
rs771023375
|
|
NM_152419.3(HGSNAT):c.918A>G (p.Ser306=)
|
|
|
NM_152419.3(HGSNAT):c.933G>T (p.Leu311=)
|
rs1458945407
|
|
NM_152419.3(HGSNAT):c.93C>G (p.Arg31=)
|
|
|
NM_152419.3(HGSNAT):c.93C>T (p.Arg31=)
|
|
|
NM_152419.3(HGSNAT):c.945A>T (p.Ala315=)
|
|
|
NM_152419.3(HGSNAT):c.951G>A (p.Arg317=)
|
rs2130766469
|
|
NM_152419.3(HGSNAT):c.996T>C (p.Asn332=)
|
rs1803883258
|
|
NM_152419.3(HGSNAT):c.999T>C (p.Tyr333=)
|
|
|
NM_152419.3(HGSNAT):c.99C>A (p.Ala33=)
|
rs1586689721
|
|
NM_152419.3(HGSNAT):c.99C>G (p.Ala33=)
|
rs1586689721
|
|
NM_152419.3(HGSNAT):c.99C>T (p.Ala33=)
|
|
|
NM_152419.3(HGSNAT):c.9G>A (p.Gly3=)
|
|
|
NM_152542.5(PPM1K):c.300G>A (p.Gln100=)
|
|
|
NM_152542.5(PPM1K):c.387C>T (p.His129=)
|
|
|
NM_152542.5(PPM1K):c.453T>C (p.Pro151=)
|
|
|
NM_152542.5(PPM1K):c.510C>T (p.Ala170=)
|
|
|
NM_152542.5(PPM1K):c.542-9T>C
|
|
|
NM_152542.5(PPM1K):c.54A>G (p.Arg18=)
|
rs2110171970
|
|
NM_152542.5(PPM1K):c.621G>A (p.Gly207=)
|
|
|
NM_152542.5(PPM1K):c.690A>G (p.Arg230=)
|
|
|
NM_152542.5(PPM1K):c.702A>G (p.Lys234=)
|
|
|
NM_152542.5(PPM1K):c.707+15G>A
|
|
|
NM_152542.5(PPM1K):c.726T>G (p.Gly242=)
|
|
|
NM_152542.5(PPM1K):c.852+14T>C
|
|
|
NM_152542.5(PPM1K):c.888C>T (p.Thr296=)
|
|
|
NM_152542.5(PPM1K):c.90C>T (p.Asp30=)
|
|
|
NM_153006.3(NAGS):c.1008C>T (p.Ile336=)
|
|
|
NM_153006.3(NAGS):c.1026C>A (p.Arg342=)
|
rs2143987399
|
|
NM_153006.3(NAGS):c.1029G>A (p.Leu343=)
|
|
|
NM_153006.3(NAGS):c.102C>A (p.Gly34=)
|
rs1466551045
|
|
NM_153006.3(NAGS):c.1032C>A (p.Pro344=)
|
|
|
NM_153006.3(NAGS):c.1032C>T (p.Pro344=)
|
rs766601934
|
|
NM_153006.3(NAGS):c.1035C>T (p.His345=)
|
|
|
NM_153006.3(NAGS):c.1041C>T (p.Ser347=)
|
rs2143987479
|
|
NM_153006.3(NAGS):c.1044G>A (p.Ser348=)
|
|
|
NM_153006.3(NAGS):c.1053C>A (p.Ile351=)
|
|
|
NM_153006.3(NAGS):c.1053C>T (p.Ile351=)
|
rs2143987541
|
|
NM_153006.3(NAGS):c.1056C>T (p.Thr352=)
|
|
|
NM_153006.3(NAGS):c.1059C>T (p.Ala353=)
|
rs1434296716
|
|
NM_153006.3(NAGS):c.105G>A (p.Ala35=)
|
rs771197434
|
|
NM_153006.3(NAGS):c.1062T>C (p.Ala354=)
|
|
|
NM_153006.3(NAGS):c.1074C>T (p.Leu358=)
|
rs2143987676
|
|
NM_153006.3(NAGS):c.1096+14G>C
|
|
|
NM_153006.3(NAGS):c.1096+17G>A
|
|
|
NM_153006.3(NAGS):c.1096+18G>T
|
|
|
NM_153006.3(NAGS):c.1096+25_1096+55del
|
|
|
NM_153006.3(NAGS):c.1096+7G>A
|
rs2143987778
|
|
NM_153006.3(NAGS):c.1097-10C>G
|
rs2143989589
|
|
NM_153006.3(NAGS):c.1097-11TCC[2]
|
|
|
NM_153006.3(NAGS):c.1097-12A>G
|
|
|
NM_153006.3(NAGS):c.1097-16C>T
|
|
|
NM_153006.3(NAGS):c.1097-19C>T
|
|
|
NM_153006.3(NAGS):c.1097-20C>T
|
|
|
NM_153006.3(NAGS):c.1097-4C>T
|
|
|
NM_153006.3(NAGS):c.1097-9C>T
|
rs2143989599
|
|
NM_153006.3(NAGS):c.1104G>A (p.Gly368=)
|
|
|
NM_153006.3(NAGS):c.1107C>G (p.Thr369=)
|
rs781536676
|
|
NM_153006.3(NAGS):c.1110G>A (p.Leu370=)
|
|
|
NM_153006.3(NAGS):c.1119C>T (p.Asn373=)
|
rs2143989746
|
|
NM_153006.3(NAGS):c.1122C>A (p.Ala374=)
|
rs2049107012
|
|
NM_153006.3(NAGS):c.114G>A (p.Arg38=)
|
|
|
NM_153006.3(NAGS):c.1155G>A (p.Lys385=)
|
rs1180741674
|
|
NM_153006.3(NAGS):c.1167C>T (p.Gly389=)
|
|
|
NM_153006.3(NAGS):c.1170T>C (p.Arg390=)
|
rs2143989936
|
|
NM_153006.3(NAGS):c.117G>A (p.Ala39=)
|
rs765197938
|
|
NM_153006.3(NAGS):c.117G>C (p.Ala39=)
|
rs765197938
|
|
NM_153006.3(NAGS):c.1185C>T (p.Val395=)
|
rs1597866228
|
|
NM_153006.3(NAGS):c.120G>A (p.Ala40=)
|
|
|
NM_153006.3(NAGS):c.1212G>A (p.Arg404=)
|
rs2143990187
|
|
NM_153006.3(NAGS):c.1215C>T (p.Asp405=)
|
|
|
NM_153006.3(NAGS):c.1224G>A (p.Leu408=)
|
rs2143990246
|
|
NM_153006.3(NAGS):c.1227C>T (p.Ala409=)
|
rs2049109242
|
|
NM_153006.3(NAGS):c.1230G>A (p.Ser410=)
|
|
|
NM_153006.3(NAGS):c.123G>A (p.Arg41=)
|
rs2143978763
|
|
NM_153006.3(NAGS):c.1248C>T (p.His416=)
|
rs1389030432
|
|
NM_153006.3(NAGS):c.1260C>A (p.Val420=)
|
|
|
NM_153006.3(NAGS):c.1263C>T (p.Ser421=)
|
|
|
NM_153006.3(NAGS):c.1268+10C>G
|
rs1226354289
|
|
NM_153006.3(NAGS):c.1268+10C>T
|
rs1226354289
|
|
NM_153006.3(NAGS):c.1268+12G>A
|
|
|
NM_153006.3(NAGS):c.1268+13A>G
|
|
|
NM_153006.3(NAGS):c.1268+15C>A
|
|
|
NM_153006.3(NAGS):c.1268+16C>T
|
|
|
NM_153006.3(NAGS):c.1268+17C>T
|
|
|
NM_153006.3(NAGS):c.1268+20A>C
|
|
|
NM_153006.3(NAGS):c.1268+7C>T
|
|
|
NM_153006.3(NAGS):c.1269-11C>T
|
|
|
NM_153006.3(NAGS):c.1269-14T>C
|
|
|
NM_153006.3(NAGS):c.1269-15C>T
|
|
|
NM_153006.3(NAGS):c.1269-18G>C
|
|
|
NM_153006.3(NAGS):c.1269-20C>T
|
|
|
NM_153006.3(NAGS):c.1269-5G>A
|
|
|
NM_153006.3(NAGS):c.1269-7G>A
|
|
|
NM_153006.3(NAGS):c.1278C>T (p.Ala426=)
|
|
|
NM_153006.3(NAGS):c.1281C>T (p.Ala427=)
|
|
|
NM_153006.3(NAGS):c.1284C>T (p.Ala428=)
|
rs2143990754
|
|
NM_153006.3(NAGS):c.1290G>A (p.Leu430=)
|
|
|
NM_153006.3(NAGS):c.1290G>C (p.Leu430=)
|
rs1411823216
|
|
NM_153006.3(NAGS):c.1293C>T (p.Thr431=)
|
rs746570484
|
|
NM_153006.3(NAGS):c.1308G>C (p.Leu436=)
|
|
|
NM_153006.3(NAGS):c.1320G>C (p.Pro440=)
|
rs2049112622
|
|
NM_153006.3(NAGS):c.1323C>T (p.Tyr441=)
|
|
|
NM_153006.3(NAGS):c.1347C>T (p.Ser449=)
|
rs759863903
|
|
NM_153006.3(NAGS):c.135G>A (p.Pro45=)
|
rs1390227455
|
|
NM_153006.3(NAGS):c.1368C>T (p.Ser456=)
|
|
|
NM_153006.3(NAGS):c.1378C>T (p.Leu460=)
|
rs1272126077
|
|
NM_153006.3(NAGS):c.1380G>A (p.Leu460=)
|
|
|
NM_153006.3(NAGS):c.138G>A (p.Gly46=)
|
|
|
NM_153006.3(NAGS):c.1398G>T (p.Arg466=)
|
rs369492320
|
|
NM_153006.3(NAGS):c.1401C>T (p.Asp467=)
|
rs2143991312
|
|
NM_153006.3(NAGS):c.1407G>A (p.Gln469=)
|
rs1597866589
|
|
NM_153006.3(NAGS):c.1413T>C (p.Leu471=)
|
rs745475802
|
|
NM_153006.3(NAGS):c.141C>A (p.Arg47=)
|
|
|
NM_153006.3(NAGS):c.141C>G (p.Arg47=)
|
|
|
NM_153006.3(NAGS):c.1428G>C (p.Arg476=)
|
rs961520446
|
|
NM_153006.3(NAGS):c.1434C>A (p.Thr478=)
|
|
|
NM_153006.3(NAGS):c.1440C>T (p.Pro480=)
|
rs1412613219
|
|
NM_153006.3(NAGS):c.1451+13A>G
|
|
|
NM_153006.3(NAGS):c.1451+16C>T
|
|
|
NM_153006.3(NAGS):c.1451+20G>C
|
|
|
NM_153006.3(NAGS):c.1451+7C>A
|
rs755758863
|
|
NM_153006.3(NAGS):c.1451+7C>G
|
rs755758863
|
|
NM_153006.3(NAGS):c.1451+9T>A
|
|
|
NM_153006.3(NAGS):c.1451+9_1451+10inv
|
|
|
NM_153006.3(NAGS):c.1452-12C>T
|
|
|
NM_153006.3(NAGS):c.1452-13T>G
|
|
|
NM_153006.3(NAGS):c.1452-15C>A
|
|
|
NM_153006.3(NAGS):c.1452-9C>G
|
rs532143469
|
|
NM_153006.3(NAGS):c.1452-9C>T
|
|
|
NM_153006.3(NAGS):c.1464C>T (p.His488=)
|
|
|
NM_153006.3(NAGS):c.1470T>C (p.Asp490=)
|
rs905032249
|
|
NM_153006.3(NAGS):c.147C>A (p.Leu49=)
|
|
|
NM_153006.3(NAGS):c.1491G>A (p.Gln497=)
|
rs1377573272
|
|
NM_153006.3(NAGS):c.1503C>T (p.Phe501=)
|
|
|
NM_153006.3(NAGS):c.1515G>C (p.Leu505=)
|
rs2049123033
|
|
NM_153006.3(NAGS):c.153C>T (p.Thr51=)
|
rs2049062343
|
|
NM_153006.3(NAGS):c.1542G>A (p.Leu514=)
|
rs1181746782
|
|
NM_153006.3(NAGS):c.1557G>A (p.Lys519=)
|
|
|
NM_153006.3(NAGS):c.1566A>C (p.Pro522=)
|
rs1468250857
|
|
NM_153006.3(NAGS):c.156C>T (p.Ala52=)
|
rs2143978978
|
|
NM_153006.3(NAGS):c.1572C>A (p.Ser524=)
|
rs1020636428
|
|
NM_153006.3(NAGS):c.1587T>C (p.Ala529=)
|
rs2143993662
|
|
NM_153006.3(NAGS):c.1593C>T (p.Asp531=)
|
rs748372797
|
|
NM_153006.3(NAGS):c.1596A>C (p.Pro532=)
|
rs2049124321
|
|
NM_153006.3(NAGS):c.15G>A (p.Leu5=)
|
rs2143978145
|
|
NM_153006.3(NAGS):c.162G>A (p.Ser54=)
|
rs2049062552
|
|
NM_153006.3(NAGS):c.168C>T (p.Pro56=)
|
rs1597863930
|
|
NM_153006.3(NAGS):c.174C>T (p.Pro58=)
|
|
|
NM_153006.3(NAGS):c.177G>A (p.Pro59=)
|
|
|
NM_153006.3(NAGS):c.189C>T (p.Tyr63=)
|
rs1555620394
|
|
NM_153006.3(NAGS):c.198G>A (p.Ala66=)
|
|
|
NM_153006.3(NAGS):c.198G>T (p.Ala66=)
|
|
|
NM_153006.3(NAGS):c.201C>T (p.Asp67=)
|
rs748567515
|
|
NM_153006.3(NAGS):c.204C>T (p.Asp68=)
|
|
|
NM_153006.3(NAGS):c.210C>T (p.Ser70=)
|
rs570583859
|
|
NM_153006.3(NAGS):c.216G>A (p.Ser72=)
|
|
|
NM_153006.3(NAGS):c.216G>C (p.Ser72=)
|
rs891726101
|
|
NM_153006.3(NAGS):c.219C>T (p.Pro73=)
|
rs2143979276
|
|
NM_153006.3(NAGS):c.225C>G (p.Ala75=)
|
rs1192887521
|
|
NM_153006.3(NAGS):c.225C>T (p.Ala75=)
|
|
|
NM_153006.3(NAGS):c.234G>A (p.Pro78=)
|
|
|
NM_153006.3(NAGS):c.234G>T (p.Pro78=)
|
|
|
NM_153006.3(NAGS):c.24G>C (p.Val8=)
|
|
|
NM_153006.3(NAGS):c.252C>G (p.Pro84=)
|
|
|
NM_153006.3(NAGS):c.258C>T (p.Pro86=)
|
|
|
NM_153006.3(NAGS):c.261G>A (p.Pro87=)
|
|
|
NM_153006.3(NAGS):c.261G>C (p.Pro87=)
|
rs890999429
|
|
NM_153006.3(NAGS):c.267C>T (p.Pro89=)
|
rs1267196366
|
|
NM_153006.3(NAGS):c.270C>T (p.His90=)
|
rs2143979493
|
|
NM_153006.3(NAGS):c.276C>G (p.Ser92=)
|
rs2143979527
|
|
NM_153006.3(NAGS):c.294C>A (p.Gly98=)
|
rs1252906552
|
|
NM_153006.3(NAGS):c.306G>A (p.Val102=)
|
rs2143979742
|
|
NM_153006.3(NAGS):c.312G>A (p.Arg104=)
|
|
|
NM_153006.3(NAGS):c.312G>C (p.Arg104=)
|
rs2143979790
|
|
NM_153006.3(NAGS):c.327C>T (p.Phe109=)
|
rs2143979832
|
|
NM_153006.3(NAGS):c.330G>A (p.Leu110=)
|
|
|
NM_153006.3(NAGS):c.333C>T (p.Asn111=)
|
|
|
NM_153006.3(NAGS):c.336G>A (p.Gln112=)
|
|
|
NM_153006.3(NAGS):c.339C>T (p.Cys113=)
|
|
|
NM_153006.3(NAGS):c.342G>A (p.Gly114=)
|
|
|
NM_153006.3(NAGS):c.342G>C (p.Gly114=)
|
|
|
NM_153006.3(NAGS):c.354G>A (p.Gly118=)
|
rs2143980002
|
|
NM_153006.3(NAGS):c.354G>C (p.Gly118=)
|
rs2143980002
|
|
NM_153006.3(NAGS):c.360G>A (p.Ala120=)
|
|
|
NM_153006.3(NAGS):c.363C>A (p.Arg121=)
|
rs1181064814
|
|
NM_153006.3(NAGS):c.381C>T (p.Phe127=)
|
rs927052830
|
|
NM_153006.3(NAGS):c.399C>G (p.Ser133=)
|
rs1395771233
|
|
NM_153006.3(NAGS):c.399C>T (p.Ser133=)
|
|
|
NM_153006.3(NAGS):c.402G>A (p.Ala134=)
|
|
|
NM_153006.3(NAGS):c.426+13C>T
|
|
|
NM_153006.3(NAGS):c.426+15G>C
|
|
|
NM_153006.3(NAGS):c.426+16C>T
|
|
|
NM_153006.3(NAGS):c.426+17G>A
|
|
|
NM_153006.3(NAGS):c.426+7G>A
|
rs2143980401
|
|
NM_153006.3(NAGS):c.427-12dup
|
|
|
NM_153006.3(NAGS):c.427-218A>C
|
|
|
NM_153006.3(NAGS):c.427-4G>C
|
|
|
NM_153006.3(NAGS):c.427-5C>T
|
rs1468991083
|
|
NM_153006.3(NAGS):c.427-9C>A
|
|
|
NM_153006.3(NAGS):c.427-9C>T
|
rs764462133
|
|
NM_153006.3(NAGS):c.432C>T (p.Asp144=)
|
rs2143982442
|
|
NM_153006.3(NAGS):c.435G>A (p.Glu145=)
|
rs1361718132
|
|
NM_153006.3(NAGS):c.444C>A (p.Leu148=)
|
rs2143982508
|
|
NM_153006.3(NAGS):c.459C>A (p.Gly153=)
|
|
|
NM_153006.3(NAGS):c.45A>C (p.Val15=)
|
|
|
NM_153006.3(NAGS):c.477T>C (p.Phe159=)
|
rs2143982629
|
|
NM_153006.3(NAGS):c.480C>T (p.Ala160=)
|
rs1157924781
|
|
NM_153006.3(NAGS):c.490T>C (p.Leu164=)
|
|
|
NM_153006.3(NAGS):c.492G>A (p.Leu164=)
|
rs1372324564
|
|
NM_153006.3(NAGS):c.513G>A (p.Pro171=)
|
|
|
NM_153006.3(NAGS):c.513G>C (p.Pro171=)
|
|
|
NM_153006.3(NAGS):c.514C>T (p.Leu172=)
|
|
|
NM_153006.3(NAGS):c.516G>C (p.Leu172=)
|
|
|
NM_153006.3(NAGS):c.519G>T (p.Val173=)
|
|
|
NM_153006.3(NAGS):c.522C>T (p.Val174=)
|
|
|
NM_153006.3(NAGS):c.528G>A (p.Gly176=)
|
|
|
NM_153006.3(NAGS):c.540T>C (p.Pro180=)
|
rs2143982962
|
|
NM_153006.3(NAGS):c.54G>A (p.Arg18=)
|
|
|
NM_153006.3(NAGS):c.552G>A (p.Ser184=)
|
|
|
NM_153006.3(NAGS):c.552G>C (p.Ser184=)
|
rs766392856
|
|
NM_153006.3(NAGS):c.552G>T (p.Ser184=)
|
|
|
NM_153006.3(NAGS):c.555C>A (p.Gly185=)
|
rs2143983063
|
|
NM_153006.3(NAGS):c.561T>A (p.Leu187=)
|
|
|
NM_153006.3(NAGS):c.561T>G (p.Leu187=)
|
|
|
NM_153006.3(NAGS):c.588G>A (p.Leu196=)
|
rs2143983210
|
|
NM_153006.3(NAGS):c.591C>T (p.Ala197=)
|
|
|
NM_153006.3(NAGS):c.606G>C (p.Val202=)
|
rs2143983282
|
|
NM_153006.3(NAGS):c.618G>T (p.Ala206=)
|
rs767680440
|
|
NM_153006.3(NAGS):c.624A>T (p.Arg208=)
|
|
|
NM_153006.3(NAGS):c.630C>T (p.Asn210=)
|
rs2049080644
|
|
NM_153006.3(NAGS):c.636C>T (p.Ala212=)
|
rs767989838
|
|
NM_153006.3(NAGS):c.639T>C (p.Ala213=)
|
|
|
NM_153006.3(NAGS):c.63C>A (p.Gly21=)
|
|
|
NM_153006.3(NAGS):c.63C>G (p.Gly21=)
|
rs751131092
|
|
NM_153006.3(NAGS):c.663G>A (p.Gly221=)
|
rs2143983603
|
|
NM_153006.3(NAGS):c.675C>T (p.Arg225=)
|
rs1436648834
|
|
NM_153006.3(NAGS):c.681C>G (p.Ala227=)
|
rs886052982
|
|
NM_153006.3(NAGS):c.681C>T (p.Ala227=)
|
|
|
NM_153006.3(NAGS):c.687G>A (p.Pro229=)
|
rs1319985208
|
|
NM_153006.3(NAGS):c.693C>T (p.Pro231=)
|
|
|
NM_153006.3(NAGS):c.6G>A (p.Ala2=)
|
rs2143978073
|
|
NM_153006.3(NAGS):c.701+10C>T
|
|
|
NM_153006.3(NAGS):c.701+10del
|
rs1304329263
|
|
NM_153006.3(NAGS):c.701+16G>C
|
|
|
NM_153006.3(NAGS):c.701+17C>T
|
|
|
NM_153006.3(NAGS):c.701+20G>A
|
|
|
NM_153006.3(NAGS):c.701+5_701+13dup
|
|
|
NM_153006.3(NAGS):c.701+7G>A
|
|
|
NM_153006.3(NAGS):c.701+8C>T
|
|
|
NM_153006.3(NAGS):c.702-14C>T
|
|
|
NM_153006.3(NAGS):c.702-16C>T
|
|
|
NM_153006.3(NAGS):c.702-20G>A
|
|
|
NM_153006.3(NAGS):c.702-4A>G
|
|
|
NM_153006.3(NAGS):c.702-7C>T
|
|
|
NM_153006.3(NAGS):c.711C>T (p.Gly237=)
|
|
|
NM_153006.3(NAGS):c.720G>A (p.Ser240=)
|
|
|
NM_153006.3(NAGS):c.720G>T (p.Ser240=)
|
|
|
NM_153006.3(NAGS):c.72C>T (p.Gly24=)
|
|
|
NM_153006.3(NAGS):c.735G>A (p.Leu245=)
|
rs2143984745
|
|
NM_153006.3(NAGS):c.747C>T (p.Cys249=)
|
|
|
NM_153006.3(NAGS):c.750G>A (p.Leu250=)
|
|
|
NM_153006.3(NAGS):c.756G>A (p.Ser252=)
|
rs778189681
|
|
NM_153006.3(NAGS):c.75T>G (p.Thr25=)
|
|
|
NM_153006.3(NAGS):c.768C>G (p.Pro256=)
|
|
|
NM_153006.3(NAGS):c.771C>T (p.Ile257=)
|
rs777226243
|
|
NM_153006.3(NAGS):c.777C>T (p.Cys259=)
|
|
|
NM_153006.3(NAGS):c.783C>T (p.Ile261=)
|
|
|
NM_153006.3(NAGS):c.78G>T (p.Gly26=)
|
rs2143978469
|
|
NM_153006.3(NAGS):c.798G>A (p.Ala266=)
|
rs1259851618
|
|
NM_153006.3(NAGS):c.801C>A (p.Arg267=)
|
|
|
NM_153006.3(NAGS):c.801C>T (p.Arg267=)
|
|
|
NM_153006.3(NAGS):c.807C>T (p.Ser269=)
|
rs767368629
|
|
NM_153006.3(NAGS):c.810G>A (p.Val270=)
|
rs1171066992
|
|
NM_153006.3(NAGS):c.810G>T (p.Val270=)
|
rs1171066992
|
|
NM_153006.3(NAGS):c.816C>T (p.Leu272=)
|
|
|
NM_153006.3(NAGS):c.81C>T (p.Gly27=)
|
rs1473496570
|
|
NM_153006.3(NAGS):c.822C>T (p.Ser274=)
|
|
|
NM_153006.3(NAGS):c.831G>A (p.Val277=)
|
rs779484535
|
|
NM_153006.3(NAGS):c.837G>T (p.Ala279=)
|
rs778475082
|
|
NM_153006.3(NAGS):c.840G>A (p.Ser280=)
|
|
|
NM_153006.3(NAGS):c.840G>T (p.Ser280=)
|
|
|
NM_153006.3(NAGS):c.843G>A (p.Leu281=)
|
|
|
NM_153006.3(NAGS):c.852G>T (p.Ala284=)
|
|
|
NM_153006.3(NAGS):c.861C>T (p.Pro287=)
|
rs2143985503
|
|
NM_153006.3(NAGS):c.864C>G (p.Thr288=)
|
rs1196927943
|
|
NM_153006.3(NAGS):c.870C>T (p.Ile290=)
|
|
|
NM_153006.3(NAGS):c.885C>T (p.Asn295=)
|
|
|
NM_153006.3(NAGS):c.888A>T (p.Thr296=)
|
rs2143985659
|
|
NM_153006.3(NAGS):c.900C>A (p.Arg300=)
|
rs753318804
|
|
NM_153006.3(NAGS):c.900C>G (p.Arg300=)
|
rs753318804
|
|
NM_153006.3(NAGS):c.906C>T (p.Ser302=)
|
rs1433560187
|
|
NM_153006.3(NAGS):c.90G>A (p.Arg30=)
|
rs2143978515
|
|
NM_153006.3(NAGS):c.915+14_915+16dup
|
|
|
NM_153006.3(NAGS):c.915+14_915+17del
|
|
|
NM_153006.3(NAGS):c.915+8C>G
|
rs2143985981
|
|
NM_153006.3(NAGS):c.918C>A (p.Val306=)
|
rs2049093957
|
|
NM_153006.3(NAGS):c.918C>T (p.Val306=)
|
|
|
NM_153006.3(NAGS):c.933C>T (p.Asn311=)
|
rs2143986837
|
|
NM_153006.3(NAGS):c.936G>A (p.Leu312=)
|
|
|
NM_153006.3(NAGS):c.939C>G (p.Pro313=)
|
|
|
NM_153006.3(NAGS):c.951C>T (p.Asp317=)
|
rs2143986927
|
|
NM_153006.3(NAGS):c.957G>A (p.Val319=)
|
|
|
NM_153006.3(NAGS):c.966C>T (p.Ala322=)
|
rs2143987016
|
|
NM_153006.3(NAGS):c.9G>A (p.Thr3=)
|
|
|
NM_153006.3(NAGS):c.9G>T (p.Thr3=)
|
|
|
NM_172250.3(MMAA):c.1002G>A (p.Gly334=)
|
rs1018880684
|
|
NM_172250.3(MMAA):c.1002G>C (p.Gly334=)
|
|
|
NM_172250.3(MMAA):c.1005C>A (p.Ile335=)
|
rs2126629821
|
|
NM_172250.3(MMAA):c.1023A>G (p.Lys341=)
|
rs2126629831
|
|
NM_172250.3(MMAA):c.1044A>G (p.Leu348=)
|
|
|
NM_172250.3(MMAA):c.1056T>C (p.Ser352=)
|
rs1302017266
|
|
NM_172250.3(MMAA):c.1083G>A (p.Lys361=)
|
|
|
NM_172250.3(MMAA):c.1086A>G (p.Gln362=)
|
|
|
NM_172250.3(MMAA):c.1095T>C (p.Val365=)
|
rs2126629917
|
|
NM_172250.3(MMAA):c.1116G>A (p.Gln372=)
|
|
|
NM_172250.3(MMAA):c.1131G>A (p.Glu377=)
|
rs2126629961
|
|
NM_172250.3(MMAA):c.1146C>T (p.His382=)
|
rs1186287486
|
|
NM_172250.3(MMAA):c.1149C>A (p.Pro383=)
|
rs2126629982
|
|
NM_172250.3(MMAA):c.1149C>T (p.Pro383=)
|
|
|
NM_172250.3(MMAA):c.1156C>A (p.Arg386=)
|
|
|
NM_172250.3(MMAA):c.1161A>G (p.Glu387=)
|
|
|
NM_172250.3(MMAA):c.1170A>G (p.Pro390=)
|
rs2126630021
|
|
NM_172250.3(MMAA):c.1179A>G (p.Glu393=)
|
rs1578888894
|
|
NM_172250.3(MMAA):c.117A>G (p.Pro39=)
|
rs2126617113
|
|
NM_172250.3(MMAA):c.1197G>A (p.Gly399=)
|
|
|
NM_172250.3(MMAA):c.1203G>A (p.Leu401=)
|
rs2126630061
|
|
NM_172250.3(MMAA):c.1206C>T (p.Ser402=)
|
rs1374931888
|
|
NM_172250.3(MMAA):c.1212A>C (p.Gly404=)
|
|
|
NM_172250.3(MMAA):c.1228T>C (p.Leu410=)
|
|
|
NM_172250.3(MMAA):c.144A>G (p.Gly48=)
|
|
|
NM_172250.3(MMAA):c.150T>C (p.His50=)
|
rs2126617181
|
|
NM_172250.3(MMAA):c.156A>G (p.Thr52=)
|
|
|
NM_172250.3(MMAA):c.166C>T (p.Leu56=)
|
rs2126617212
|
|
NM_172250.3(MMAA):c.168G>A (p.Leu56=)
|
rs1396471571
|
|
NM_172250.3(MMAA):c.168G>T (p.Leu56=)
|
rs1396471571
|
|
NM_172250.3(MMAA):c.186G>A (p.Lys62=)
|
|
|
NM_172250.3(MMAA):c.195A>G (p.Leu65=)
|
|
|
NM_172250.3(MMAA):c.198T>C (p.Cys66=)
|
|
|
NM_172250.3(MMAA):c.201A>G (p.Val67=)
|
|
|
NM_172250.3(MMAA):c.204A>G (p.Gln68=)
|
rs1727714117
|
|
NM_172250.3(MMAA):c.21T>C (p.His7=)
|
|
|
NM_172250.3(MMAA):c.222C>T (p.His74=)
|
rs1578877626
|
|
NM_172250.3(MMAA):c.240T>C (p.Asp80=)
|
rs2126617322
|
|
NM_172250.3(MMAA):c.246G>A (p.Glu82=)
|
rs750230122
|
|
NM_172250.3(MMAA):c.255T>C (p.Phe85=)
|
rs2126617358
|
|
NM_172250.3(MMAA):c.264A>G (p.Lys88=)
|
|
|
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)
|
rs148404005
|
|
NM_172250.3(MMAA):c.288G>A (p.Gly96=)
|
rs559279147
|
|
NM_172250.3(MMAA):c.303A>G (p.Leu101=)
|
|
|
NM_172250.3(MMAA):c.333T>A (p.Thr111=)
|
|
|
NM_172250.3(MMAA):c.333T>C (p.Thr111=)
|
|
|
NM_172250.3(MMAA):c.342G>A (p.Arg114=)
|
rs774790573
|
|
NM_172250.3(MMAA):c.354A>G (p.Leu118=)
|
|
|
NM_172250.3(MMAA):c.357C>T (p.Ala119=)
|
|
|
NM_172250.3(MMAA):c.363G>C (p.Val121=)
|
rs2126617517
|
|
NM_172250.3(MMAA):c.369T>G (p.Leu123=)
|
rs1418638749
|
|
NM_172250.3(MMAA):c.36C>T (p.Phe12=)
|
rs1661385949
|
|
NM_172250.3(MMAA):c.375A>G (p.Lys125=)
|
|
|
NM_172250.3(MMAA):c.384T>C (p.Leu128=)
|
|
|
NM_172250.3(MMAA):c.390C>T (p.His130=)
|
|
|
NM_172250.3(MMAA):c.39A>C (p.Leu13=)
|
rs1727705456
|
|
NM_172250.3(MMAA):c.402A>G (p.Glu134=)
|
rs2126617588
|
|
NM_172250.3(MMAA):c.405A>G (p.Gln135=)
|
|
|
NM_172250.3(MMAA):c.414A>G (p.Lys138=)
|
rs1237655127
|
|
NM_172250.3(MMAA):c.439+12T>G
|
|
|
NM_172250.3(MMAA):c.439+14G>T
|
|
|
NM_172250.3(MMAA):c.439+14del
|
|
|
NM_172250.3(MMAA):c.439+16G>C
|
|
|
NM_172250.3(MMAA):c.439+9T>C
|
|
|
NM_172250.3(MMAA):c.440-10dup
|
|
|
NM_172250.3(MMAA):c.440-19A>C
|
|
|
NM_172250.3(MMAA):c.440-7A>C
|
rs1337205137
|
|
NM_172250.3(MMAA):c.440-9C>A
|
|
|
NM_172250.3(MMAA):c.453C>G (p.Pro151=)
|
rs879110861
|
|
NM_172250.3(MMAA):c.501T>G (p.Leu167=)
|
|
|
NM_172250.3(MMAA):c.513G>A (p.Gly171=)
|
rs2126620000
|
|
NM_172250.3(MMAA):c.519A>G (p.Lys173=)
|
|
|
NM_172250.3(MMAA):c.546T>C (p.Ser182=)
|
|
|
NM_172250.3(MMAA):c.549T>C (p.Ser183=)
|
|
|
NM_172250.3(MMAA):c.54A>G (p.Arg18=)
|
|
|
NM_172250.3(MMAA):c.555T>C (p.Thr185=)
|
|
|
NM_172250.3(MMAA):c.562+7A>T
|
rs2126620073
|
|
NM_172250.3(MMAA):c.562+8T>C
|
|
|
NM_172250.3(MMAA):c.562+9G>A
|
rs2126620076
|
|
NM_172250.3(MMAA):c.563-17G>A
|
|
|
NM_172250.3(MMAA):c.563-4T>A
|
|
|
NM_172250.3(MMAA):c.564A>T (p.Gly188=)
|
rs1727918663
|
|
NM_172250.3(MMAA):c.585C>A (p.Thr195=)
|
|
|
NM_172250.3(MMAA):c.600A>G (p.Leu200=)
|
rs2126622751
|
|
NM_172250.3(MMAA):c.603A>G (p.Ser201=)
|
rs2126622760
|
|
NM_172250.3(MMAA):c.618A>G (p.Ala206=)
|
rs1727920444
|
|
NM_172250.3(MMAA):c.648T>C (p.Thr216=)
|
|
|
NM_172250.3(MMAA):c.651A>G (p.Leu217=)
|
|
|
NM_172250.3(MMAA):c.657C>A (p.Gly219=)
|
rs1291307841
|
|
NM_172250.3(MMAA):c.657C>T (p.Gly219=)
|
|
|
NM_172250.3(MMAA):c.663A>G (p.Thr221=)
|
rs2126622855
|
|
NM_172250.3(MMAA):c.666G>A (p.Arg222=)
|
|
|
NM_172250.3(MMAA):c.6C>T (p.Pro2=)
|
|
|
NM_172250.3(MMAA):c.702G>T (p.Ala234=)
|
|
|
NM_172250.3(MMAA):c.711C>T (p.Asp237=)
|
|
|
NM_172250.3(MMAA):c.729C>A (p.Thr243=)
|
|
|
NM_172250.3(MMAA):c.72C>T (p.Tyr24=)
|
|
|
NM_172250.3(MMAA):c.733+12A>G
|
|
|
NM_172250.3(MMAA):c.733+16T>G
|
|
|
NM_172250.3(MMAA):c.733+9G>A
|
|
|
NM_172250.3(MMAA):c.734-13T>C
|
|
|
NM_172250.3(MMAA):c.734-15G>A
|
|
|
NM_172250.3(MMAA):c.734-20G>A
|
|
|
NM_172250.3(MMAA):c.734-9C>A
|
rs756275016
|
|
NM_172250.3(MMAA):c.734-9C>T
|
rs756275016
|
|
NM_172250.3(MMAA):c.762T>A (p.Ala254=)
|
|
|
NM_172250.3(MMAA):c.762T>C (p.Ala254=)
|
rs1033389087
|
|
NM_172250.3(MMAA):c.771T>C (p.Val257=)
|
rs2126627142
|
|
NM_172250.3(MMAA):c.775A>C (p.Met259Leu)
|
|
|
NM_172250.3(MMAA):c.783T>A (p.Val261=)
|
rs2126627167
|
|
NM_172250.3(MMAA):c.783T>G (p.Val261=)
|
|
|
NM_172250.3(MMAA):c.786A>G (p.Leu262=)
|
|
|
NM_172250.3(MMAA):c.78C>T (p.Phe26=)
|
rs2126617065
|
|
NM_172250.3(MMAA):c.816G>A (p.Leu272=)
|
rs1728078075
|
|
NM_172250.3(MMAA):c.819+11T>G
|
|
|
NM_172250.3(MMAA):c.819+13del
|
|
|
NM_172250.3(MMAA):c.819+8T>C
|
|
|
NM_172250.3(MMAA):c.81C>T (p.Ile27=)
|
rs2126617076
|
|
NM_172250.3(MMAA):c.820-10A>C
|
rs2126629035
|
|
NM_172250.3(MMAA):c.820-13C>G
|
|
|
NM_172250.3(MMAA):c.820-15T>G
|
|
|
NM_172250.3(MMAA):c.820-7T>C
|
|
|
NM_172250.3(MMAA):c.820-8C>G
|
rs1728162232
|
|
NM_172250.3(MMAA):c.831G>A (p.Arg277=)
|
|
|
NM_172250.3(MMAA):c.855G>A (p.Leu285=)
|
|
|
NM_172250.3(MMAA):c.858A>G (p.Val286=)
|
rs142063642
|
|
NM_172250.3(MMAA):c.861T>C (p.Ala287=)
|
|
|
NM_172250.3(MMAA):c.867T>G (p.Thr289=)
|
|
|
NM_172250.3(MMAA):c.885G>A (p.Leu295=)
|
rs2126629113
|
|
NM_172250.3(MMAA):c.918T>C (p.Tyr306=)
|
|
|
NM_172250.3(MMAA):c.924T>C (p.Ser308=)
|
rs2126629166
|
|
NM_172250.3(MMAA):c.933A>G (p.Lys311=)
|
rs2126629176
|
|
NM_172250.3(MMAA):c.942C>A (p.Arg314=)
|
rs773218154
|
|
NM_172250.3(MMAA):c.951A>C (p.Ser317=)
|
|
|
NM_172250.3(MMAA):c.951A>G (p.Ser317=)
|
|
|
NM_172250.3(MMAA):c.957C>T (p.Val319=)
|
|
|
NM_172250.3(MMAA):c.969+10C>T
|
rs1728168081
|
|
NM_172250.3(MMAA):c.969+15A>C
|
|
|
NM_172250.3(MMAA):c.969+15A>G
|
|
|
NM_172250.3(MMAA):c.969+18C>T
|
|
|
NM_172250.3(MMAA):c.969+20G>T
|
|
|
NM_172250.3(MMAA):c.969+9G>A
|
rs1007611523
|
|
NM_172250.3(MMAA):c.96T>A (p.Thr32=)
|
|
|
NM_172250.3(MMAA):c.970-19G>T
|
|
|
NM_172250.3(MMAA):c.970-3dup
|
|
|
NM_172250.3(MMAA):c.970-4A>T
|
rs1728189053
|
|
NM_172250.3(MMAA):c.970-5G>T
|
|
|
NM_172250.3(MMAA):c.972A>G (p.Val324=)
|
rs2126629778
|
|
NM_172250.3(MMAA):c.999G>A (p.Glu333=)
|
|
|
NM_172250.3(MMAA):c.99T>C (p.His33=)
|
rs2126617089
|
|
NM_177550.5(SLC13A5):c.1005C>A (p.Pro335=)
|
rs56224509
|
|
NM_177550.5(SLC13A5):c.1017C>G (p.Pro339=)
|
rs200365614
|
|
NM_177550.5(SLC13A5):c.102+11T>A
|
|
|
NM_177550.5(SLC13A5):c.102+13del
|
rs2151505633
|
|
NM_177550.5(SLC13A5):c.102+19C>A
|
|
|
NM_177550.5(SLC13A5):c.102+20A>G
|
|
|
NM_177550.5(SLC13A5):c.102+9C>T
|
|
|
NM_177550.5(SLC13A5):c.103-14G>A
|
|
|
NM_177550.5(SLC13A5):c.103-20C>G
|
|
|
NM_177550.5(SLC13A5):c.1053A>G (p.Thr351=)
|
|
|
NM_177550.5(SLC13A5):c.1055+10G>A
|
|
|
NM_177550.5(SLC13A5):c.1055+12A>G
|
rs1567617699
|
|
NM_177550.5(SLC13A5):c.1055+14T>G
|
|
|
NM_177550.5(SLC13A5):c.1056-15C>A
|
|
|
NM_177550.5(SLC13A5):c.1056-4C>A
|
rs763014412
|
|
NM_177550.5(SLC13A5):c.1056-5C>T
|
rs1597661291
|
|
NM_177550.5(SLC13A5):c.1056-6A>G
|
rs1597661297
|
|
NM_177550.5(SLC13A5):c.1071C>T (p.Ala357=)
|
|
|
NM_177550.5(SLC13A5):c.1098G>A (p.Leu366=)
|
|
|
NM_177550.5(SLC13A5):c.1098G>T (p.Leu366=)
|
rs1355898652
|
|
NM_177550.5(SLC13A5):c.1137C>T (p.Phe379=)
|
|
|
NM_177550.5(SLC13A5):c.1156+11T>G
|
rs1172086493
|
|
NM_177550.5(SLC13A5):c.1156+20C>A
|
rs368150158
|
|
NM_177550.5(SLC13A5):c.1156+7C>A
|
|
|
NM_177550.5(SLC13A5):c.1157-16T>G
|
|
|
NM_177550.5(SLC13A5):c.1157-19_1157-18insTGTA
|
|
|
NM_177550.5(SLC13A5):c.1157-4C>A
|
rs772441738
|
|
NM_177550.5(SLC13A5):c.1157-68GT[12]
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[13]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[14]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[16]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[17]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[19]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[23]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[27]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[28]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[29]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[30]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[31]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[32]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[33]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[34]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[35]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[36]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[38]
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[8]
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[9]
|
|
|
NM_177550.5(SLC13A5):c.1182T>A (p.Pro394=)
|
|
|
NM_177550.5(SLC13A5):c.1189C>T (p.Leu397=)
|
|
|
NM_177550.5(SLC13A5):c.1206C>G (p.Thr402=)
|
|
|
NM_177550.5(SLC13A5):c.1242A>G (p.Leu414=)
|
|
|
NM_177550.5(SLC13A5):c.1248C>A (p.Gly416=)
|
rs139042926
|
|
NM_177550.5(SLC13A5):c.1248C>G (p.Gly416=)
|
rs139042926
|
|
NM_177550.5(SLC13A5):c.1248C>T (p.Gly416=)
|
rs139042926
|
|
NM_177550.5(SLC13A5):c.1275+15C>T
|
rs2150966936
|
|
NM_177550.5(SLC13A5):c.1275+9T>A
|
|
|
NM_177550.5(SLC13A5):c.1275+9_1275+70del
|
rs2150966895
|
|
NM_177550.5(SLC13A5):c.1276-11G>A
|
rs1597657068
|
|
NM_177550.5(SLC13A5):c.1276-15C>T
|
|
|
NM_177550.5(SLC13A5):c.1276-9G>T
|
|
|
NM_177550.5(SLC13A5):c.1290C>G (p.Ser430=)
|
rs756166033
|
|
NM_177550.5(SLC13A5):c.1335G>A (p.Pro445=)
|
rs138802643
|
|
NM_177550.5(SLC13A5):c.1335G>C (p.Pro445=)
|
rs138802643
|
|
NM_177550.5(SLC13A5):c.1341C>T (p.Ala447=)
|
|
|
NM_177550.5(SLC13A5):c.1348T>C (p.Leu450=)
|
|
|
NM_177550.5(SLC13A5):c.1356G>A (p.Leu452=)
|
|
|
NM_177550.5(SLC13A5):c.1371C>T (p.Ala457=)
|
|
|
NM_177550.5(SLC13A5):c.1383G>A (p.Glu461=)
|
|
|
NM_177550.5(SLC13A5):c.1422C>T (p.Pro474=)
|
rs2150964713
|
|
NM_177550.5(SLC13A5):c.1428T>C (p.Phe476=)
|
rs1450058801
|
|
NM_177550.5(SLC13A5):c.1437+15del
|
rs1555540915
|
|
NM_177550.5(SLC13A5):c.1437+20G>A
|
|
|
NM_177550.5(SLC13A5):c.1437+20G>C
|
|
|
NM_177550.5(SLC13A5):c.1437+9C>T
|
rs1216705623
|
|
NM_177550.5(SLC13A5):c.1438-19C>T
|
|
|
NM_177550.5(SLC13A5):c.1494C>T (p.Ala498=)
|
rs1046475172
|
|
NM_177550.5(SLC13A5):c.1497C>A (p.Ser499=)
|
rs949451311
|
|
NM_177550.5(SLC13A5):c.1510T>C (p.Leu504=)
|
rs759151984
|
|
NM_177550.5(SLC13A5):c.1524C>T (p.Thr508=)
|
rs2150961768
|
|
NM_177550.5(SLC13A5):c.1536C>T (p.Ala512=)
|
rs1973282772
|
|
NM_177550.5(SLC13A5):c.1563G>A (p.Lys521=)
|
rs1597653033
|
|
NM_177550.5(SLC13A5):c.1575+8A>G
|
|
|
NM_177550.5(SLC13A5):c.1576-20T>A
|
rs2150960911
|
|
NM_177550.5(SLC13A5):c.1576-4C>G
|
|
|
NM_177550.5(SLC13A5):c.1624T>C (p.Leu542=)
|
|
|
NM_177550.5(SLC13A5):c.1632C>T (p.Val544=)
|
rs1597651519
|
|
NM_177550.5(SLC13A5):c.168G>A (p.Leu56=)
|
|
|
NM_177550.5(SLC13A5):c.171T>C (p.Ala57=)
|
rs1379801780
|
|
NM_177550.5(SLC13A5):c.201C>T (p.Phe67=)
|
rs900258843
|
|
NM_177550.5(SLC13A5):c.21T>C (p.Tyr7=)
|
|
|
NM_177550.5(SLC13A5):c.231+12C>T
|
|
|
NM_177550.5(SLC13A5):c.231+20C>G
|
|
|
NM_177550.5(SLC13A5):c.232-5T>A
|
|
|
NM_177550.5(SLC13A5):c.232-8_232-7delinsTA
|
rs2151498313
|
|
NM_177550.5(SLC13A5):c.234G>A (p.Val78=)
|
|
|
NM_177550.5(SLC13A5):c.237T>C (p.Cys79=)
|
rs768939788
|
|
NM_177550.5(SLC13A5):c.24C>A (p.Val8=)
|
rs2151505851
|
|
NM_177550.5(SLC13A5):c.252G>A (p.Lys84=)
|
|
|
NM_177550.5(SLC13A5):c.267G>C (p.Leu89=)
|
|
|
NM_177550.5(SLC13A5):c.271C>T (p.Leu91=)
|
|
|
NM_177550.5(SLC13A5):c.276C>A (p.Gly92=)
|
rs771703938
|
|
NM_177550.5(SLC13A5):c.279C>T (p.Gly93=)
|
|
|
NM_177550.5(SLC13A5):c.291C>T (p.Ala97=)
|
|
|
NM_177550.5(SLC13A5):c.303G>A (p.Glu101=)
|
|
|
NM_177550.5(SLC13A5):c.312C>T (p.Asn104=)
|
|
|
NM_177550.5(SLC13A5):c.318C>T (p.His106=)
|
rs1973874419
|
|
NM_177550.5(SLC13A5):c.339G>A (p.Thr113=)
|
|
|
NM_177550.5(SLC13A5):c.366A>G (p.Ala122=)
|
|
|
NM_177550.5(SLC13A5):c.368+12T>C
|
|
|
NM_177550.5(SLC13A5):c.368+15T>C
|
|
|
NM_177550.5(SLC13A5):c.368+16C>G
|
|
|
NM_177550.5(SLC13A5):c.368+9G>T
|
|
|
NM_177550.5(SLC13A5):c.369-19C>G
|
|
|
NM_177550.5(SLC13A5):c.378G>C (p.Leu126=)
|
|
|
NM_177550.5(SLC13A5):c.39C>G (p.Ser13=)
|
rs2151505818
|
|
NM_177550.5(SLC13A5):c.417C>T (p.Ile139=)
|
|
|
NM_177550.5(SLC13A5):c.426G>C (p.Thr142=)
|
|
|
NM_177550.5(SLC13A5):c.426G>T (p.Thr142=)
|
rs72836208
|
|
NM_177550.5(SLC13A5):c.435G>A (p.Thr145=)
|
|
|
NM_177550.5(SLC13A5):c.450C>T (p.Pro150=)
|
|
|
NM_177550.5(SLC13A5):c.459G>A (p.Glu153=)
|
rs1057521689
|
|
NM_177550.5(SLC13A5):c.486A>G (p.Thr162=)
|
rs1438628302
|
|
NM_177550.5(SLC13A5):c.48C>T (p.Ile16=)
|
|
|
NM_177550.5(SLC13A5):c.522C>T (p.Asp174=)
|
|
|
NM_177550.5(SLC13A5):c.547+19C>T
|
|
|
NM_177550.5(SLC13A5):c.547+9C>T
|
rs1203815263
|
|
NM_177550.5(SLC13A5):c.548-10C>T
|
rs2151494144
|
|
NM_177550.5(SLC13A5):c.548-11G>C
|
|
|
NM_177550.5(SLC13A5):c.548-13G>C
|
|
|
NM_177550.5(SLC13A5):c.548-14T>G
|
|
|
NM_177550.5(SLC13A5):c.548-16G>A
|
|
|
NM_177550.5(SLC13A5):c.548-16G>T
|
|
|
NM_177550.5(SLC13A5):c.548-20C>T
|
|
|
NM_177550.5(SLC13A5):c.561T>A (p.Ile187=)
|
|
|
NM_177550.5(SLC13A5):c.561T>C (p.Ile187=)
|
|
|
NM_177550.5(SLC13A5):c.570C>A (p.Gly190=)
|
|
|
NM_177550.5(SLC13A5):c.570C>T (p.Gly190=)
|
|
|
NM_177550.5(SLC13A5):c.582G>C (p.Gly194=)
|
rs147260918
|
|
NM_177550.5(SLC13A5):c.601C>A (p.Arg201=)
|
|
|
NM_177550.5(SLC13A5):c.609G>A (p.Arg203=)
|
rs2151494038
|
|
NM_177550.5(SLC13A5):c.60C>G (p.Thr20=)
|
|
|
NM_177550.5(SLC13A5):c.627C>A (p.Thr209=)
|
rs1259516551
|
|
NM_177550.5(SLC13A5):c.627C>T (p.Thr209=)
|
|
|
NM_177550.5(SLC13A5):c.648C>T (p.Ala216=)
|
|
|
NM_177550.5(SLC13A5):c.657G>A (p.Gly219=)
|
|
|
NM_177550.5(SLC13A5):c.666C>T (p.Ala222=)
|
rs1973756878
|
|
NM_177550.5(SLC13A5):c.669C>A (p.Thr223=)
|
rs1425515226
|
|
NM_177550.5(SLC13A5):c.669C>T (p.Thr223=)
|
rs1425515226
|
|
NM_177550.5(SLC13A5):c.66C>T (p.Leu22=)
|
|
|
NM_177550.5(SLC13A5):c.705C>T (p.Gly235=)
|
rs1375520259
|
|
NM_177550.5(SLC13A5):c.716+14C>T
|
|
|
NM_177550.5(SLC13A5):c.716+15G>T
|
|
|
NM_177550.5(SLC13A5):c.716+19C>T
|
|
|
NM_177550.5(SLC13A5):c.716+8C>T
|
rs746595823
|
|
NM_177550.5(SLC13A5):c.717-18G>T
|
|
|
NM_177550.5(SLC13A5):c.717-20G>A
|
rs777013140
|
|
NM_177550.5(SLC13A5):c.717G>A (p.Glu239=)
|
|
|
NM_177550.5(SLC13A5):c.718T>C (p.Leu240=)
|
|
|
NM_177550.5(SLC13A5):c.72G>A (p.Leu24=)
|
|
|
NM_177550.5(SLC13A5):c.750T>C (p.Phe250=)
|
rs2151492066
|
|
NM_177550.5(SLC13A5):c.793C>T (p.Leu265=)
|
|
|
NM_177550.5(SLC13A5):c.816C>T (p.Leu272=)
|
|
|
NM_177550.5(SLC13A5):c.822T>C (p.Phe274=)
|
|
|
NM_177550.5(SLC13A5):c.839+16T>C
|
|
|
NM_177550.5(SLC13A5):c.839+7T>G
|
|
|
NM_177550.5(SLC13A5):c.839+8T>C
|
|
|
NM_177550.5(SLC13A5):c.849G>A (p.Lys283=)
|
rs141681787
|
|
NM_177550.5(SLC13A5):c.858C>T (p.Gly286=)
|
|
|
NM_177550.5(SLC13A5):c.903G>A (p.Val301=)
|
|
|
NM_177550.5(SLC13A5):c.90G>A (p.Leu30=)
|
|
|
NM_177550.5(SLC13A5):c.981C>T (p.Val327=)
|
rs2151487186
|
|
NM_177550.5(SLC13A5):c.987G>A (p.Leu329=)
|
rs1597663120
|
|
NM_183050.4(BCKDHB):c.1002A>G (p.Thr334=)
|
rs2127965195
|
|
NM_183050.4(BCKDHB):c.1005C>A (p.Gly335=)
|
rs1562193967
|
|
NM_183050.4(BCKDHB):c.1014A>G (p.Ala338=)
|
rs904277226
|
|
NM_183050.4(BCKDHB):c.1029T>C (p.Ser343=)
|
|
|
NM_183050.4(BCKDHB):c.102C>T (p.Gly34=)
|
rs1294903760
|
|
NM_183050.4(BCKDHB):c.1032A>G (p.Thr344=)
|
rs148902222
|
|
NM_183050.4(BCKDHB):c.1038+20T>C
|
|
|
NM_183050.4(BCKDHB):c.1038+20T>G
|
|
|
NM_183050.4(BCKDHB):c.1038+8A>T
|
rs1777830129
|
|
NM_183050.4(BCKDHB):c.1039-13A>C
|
|
|
NM_183050.4(BCKDHB):c.1039-15T>C
|
|
|
NM_183050.4(BCKDHB):c.1039-17C>A
|
|
|
NM_183050.4(BCKDHB):c.1039-5T>C
|
rs879095937
|
|
NM_183050.4(BCKDHB):c.1041G>A (p.Glu347=)
|
rs2128020526
|
|
NM_183050.4(BCKDHB):c.1059A>G (p.Leu353=)
|
rs1770035632
|
|
NM_183050.4(BCKDHB):c.1062G>A (p.Glu354=)
|
|
|
NM_183050.4(BCKDHB):c.1068T>C (p.Pro356=)
|
rs1582600488
|
|
NM_183050.4(BCKDHB):c.1092C>T (p.Asp364=)
|
rs2128020582
|
|
NM_183050.4(BCKDHB):c.1095A>G (p.Thr365=)
|
rs2128020590
|
|
NM_183050.4(BCKDHB):c.1107C>T (p.His369=)
|
rs1582600540
|
|
NM_183050.4(BCKDHB):c.1119A>G (p.Pro373=)
|
|
|
NM_183050.4(BCKDHB):c.1128C>T (p.Ile376=)
|
rs1035866627
|
|
NM_183050.4(BCKDHB):c.1137A>G (p.Lys379=)
|
|
|
NM_183050.4(BCKDHB):c.1149T>C (p.Tyr383=)
|
|
|
NM_183050.4(BCKDHB):c.114C>T (p.Pro38=)
|
|
|
NM_183050.4(BCKDHB):c.117C>T (p.Ala39=)
|
rs767901122
|
|
NM_183050.4(BCKDHB):c.120G>A (p.Ala40=)
|
rs2127699065
|
|
NM_183050.4(BCKDHB):c.120G>T (p.Ala40=)
|
rs2127699065
|
|
NM_183050.4(BCKDHB):c.123T>G (p.Thr41=)
|
|
|
NM_183050.4(BCKDHB):c.126C>G (p.Val42=)
|
rs2127699088
|
|
NM_183050.4(BCKDHB):c.12A>G (p.Val4=)
|
rs2127698647
|
|
NM_183050.4(BCKDHB):c.135G>A (p.Ala45=)
|
rs777673541
|
|
NM_183050.4(BCKDHB):c.138C>T (p.Ala46=)
|
|
|
NM_183050.4(BCKDHB):c.141G>A (p.Gln47=)
|
|
|
NM_183050.4(BCKDHB):c.144_145delinsAA (p.Arg48_Arg49=)
|
rs2127699136
|
|
NM_183050.4(BCKDHB):c.145C>A (p.Arg49=)
|
|
|
NM_183050.4(BCKDHB):c.15G>A (p.Ala5=)
|
rs772066588
|
|
NM_183050.4(BCKDHB):c.15G>C (p.Ala5=)
|
rs772066588
|
|
NM_183050.4(BCKDHB):c.165T>G (p.Thr55=)
|
rs2127699201
|
|
NM_183050.4(BCKDHB):c.174A>G (p.Pro58=)
|
rs1769093743
|
|
NM_183050.4(BCKDHB):c.18G>A (p.Ala6=)
|
rs2127698696
|
|
NM_183050.4(BCKDHB):c.18G>C (p.Ala6=)
|
rs2127698696
|
|
NM_183050.4(BCKDHB):c.18G>T (p.Ala6=)
|
rs2127698696
|
|
NM_183050.4(BCKDHB):c.196+10G>A
|
rs2127699369
|
|
NM_183050.4(BCKDHB):c.196+10G>C
|
|
|
NM_183050.4(BCKDHB):c.196+11G>A
|
|
|
NM_183050.4(BCKDHB):c.196+13A>G
|
|
|
NM_183050.4(BCKDHB):c.196+20A>T
|
|
|
NM_183050.4(BCKDHB):c.196+7C>T
|
rs753090498
|
|
NM_183050.4(BCKDHB):c.196+8C>G
|
rs1337392511
|
|
NM_183050.4(BCKDHB):c.197-11G>A
|
|
|
NM_183050.4(BCKDHB):c.197-15_197-14insA
|
|
|
NM_183050.4(BCKDHB):c.197-5C>T
|
rs1374556799
|
|
NM_183050.4(BCKDHB):c.21T>A (p.Ala7=)
|
|
|
NM_183050.4(BCKDHB):c.228T>A (p.Ser76=)
|
rs761814478
|
|
NM_183050.4(BCKDHB):c.241T>C (p.Leu81=)
|
|
|
NM_183050.4(BCKDHB):c.24C>A (p.Ala8=)
|
rs558448066
|
|
NM_183050.4(BCKDHB):c.24C>G (p.Ala8=)
|
rs558448066
|
|
NM_183050.4(BCKDHB):c.253T>C (p.Leu85=)
|
rs780890874
|
|
NM_183050.4(BCKDHB):c.25G>A (p.Gly9Ser)
|
rs571728255
|
|
NM_183050.4(BCKDHB):c.267T>C (p.Pro89=)
|
rs1582191955
|
|
NM_183050.4(BCKDHB):c.267T>G (p.Pro89=)
|
|
|
NM_183050.4(BCKDHB):c.270T>C (p.Thr90=)
|
|
|
NM_183050.4(BCKDHB):c.274+10A>T
|
rs2127726226
|
|
NM_183050.4(BCKDHB):c.274+13T>C
|
|
|
NM_183050.4(BCKDHB):c.274+7C>T
|
rs771730316
|
|
NM_183050.4(BCKDHB):c.274+8T>C
|
|
|
NM_183050.4(BCKDHB):c.275-10T>C
|
rs2127727828
|
|
NM_183050.4(BCKDHB):c.275-12A>C
|
|
|
NM_183050.4(BCKDHB):c.275-16A>C
|
|
|
NM_183050.4(BCKDHB):c.275-17T>C
|
|
|
NM_183050.4(BCKDHB):c.275-20A>C
|
|
|
NM_183050.4(BCKDHB):c.275-20A>G
|
|
|
NM_183050.4(BCKDHB):c.275-5T>C
|
|
|
NM_183050.4(BCKDHB):c.275-8T>G
|
|
|
NM_183050.4(BCKDHB):c.275-9G>A
|
|
|
NM_183050.4(BCKDHB):c.27C>G (p.Gly9=)
|
rs1024423494
|
|
NM_183050.4(BCKDHB):c.285T>C (p.Gly95=)
|
rs2127727865
|
|
NM_183050.4(BCKDHB):c.312T>C (p.Phe104=)
|
rs745368116
|
|
NM_183050.4(BCKDHB):c.315A>G (p.Arg105=)
|
rs1770499965
|
|
NM_183050.4(BCKDHB):c.31C>T (p.Leu11=)
|
|
|
NM_183050.4(BCKDHB):c.321T>C (p.Thr107=)
|
|
|
NM_183050.4(BCKDHB):c.331C>A (p.Arg111=)
|
rs371117671
|
|
NM_183050.4(BCKDHB):c.333A>G (p.Arg111=)
|
rs1582194998
|
|
NM_183050.4(BCKDHB):c.336C>T (p.Asp112=)
|
|
|
NM_183050.4(BCKDHB):c.33A>C (p.Leu11=)
|
|
|
NM_183050.4(BCKDHB):c.33A>G (p.Leu11=)
|
|
|
NM_183050.4(BCKDHB):c.33A>T (p.Leu11=)
|
rs755140913
|
|
NM_183050.4(BCKDHB):c.343+16T>C
|
|
|
NM_183050.4(BCKDHB):c.343+17A>G
|
|
|
NM_183050.4(BCKDHB):c.344-19T>C
|
|
|
NM_183050.4(BCKDHB):c.344-4T>G
|
rs2127773306
|
|
NM_183050.4(BCKDHB):c.344-7T>C
|
rs1562102564
|
|
NM_183050.4(BCKDHB):c.360T>C (p.Phe120=)
|
rs770355362
|
|
NM_183050.4(BCKDHB):c.369A>G (p.Pro123=)
|
rs891015474
|
|
NM_183050.4(BCKDHB):c.370T>C (p.Leu124=)
|
rs2127773376
|
|
NM_183050.4(BCKDHB):c.372G>A (p.Leu124=)
|
|
|
NM_183050.4(BCKDHB):c.378A>G (p.Glu126=)
|
rs770996331
|
|
NM_183050.4(BCKDHB):c.39G>A (p.Arg13=)
|
|
|
NM_183050.4(BCKDHB):c.420A>C (p.Gly140=)
|
|
|
NM_183050.4(BCKDHB):c.426T>C (p.Thr142=)
|
|
|
NM_183050.4(BCKDHB):c.426T>G (p.Thr142=)
|
|
|
NM_183050.4(BCKDHB):c.429C>A (p.Ala143=)
|
rs1582272242
|
|
NM_183050.4(BCKDHB):c.429C>T (p.Ala143=)
|
rs1582272242
|
|
NM_183050.4(BCKDHB):c.42C>T (p.Leu14=)
|
rs2127698794
|
|
NM_183050.4(BCKDHB):c.432T>C (p.Ile144=)
|
rs2127773487
|
|
NM_183050.4(BCKDHB):c.435G>T (p.Ala145=)
|
rs370267903
|
|
NM_183050.4(BCKDHB):c.468A>C (p.Ala156=)
|
|
|
NM_183050.4(BCKDHB):c.468A>G (p.Ala156=)
|
|
|
NM_183050.4(BCKDHB):c.474T>C (p.Asp158=)
|
rs2127773553
|
|
NM_183050.4(BCKDHB):c.477+10T>A
|
|
|
NM_183050.4(BCKDHB):c.477+13A>G
|
|
|
NM_183050.4(BCKDHB):c.477+14C>A
|
|
|
NM_183050.4(BCKDHB):c.477+15_477+16insAA
|
|
|
NM_183050.4(BCKDHB):c.477+19C>G
|
|
|
NM_183050.4(BCKDHB):c.477+20T>G
|
|
|
NM_183050.4(BCKDHB):c.477+7G>A
|
rs2127773561
|
|
NM_183050.4(BCKDHB):c.478-11C>G
|
|
|
NM_183050.4(BCKDHB):c.478-13_478-10del
|
|
|
NM_183050.4(BCKDHB):c.478-15C>G
|
|
|
NM_183050.4(BCKDHB):c.478-15C>T
|
rs772227275
|
|
NM_183050.4(BCKDHB):c.478-16T>G
|
|
|
NM_183050.4(BCKDHB):c.478-17T>C
|
|
|
NM_183050.4(BCKDHB):c.478-19C>G
|
|
|
NM_183050.4(BCKDHB):c.478-4T>G
|
|
|
NM_183050.4(BCKDHB):c.478-6C>T
|
rs879247086
|
|
NM_183050.4(BCKDHB):c.483T>C (p.Val161=)
|
rs2127775341
|
|
NM_183050.4(BCKDHB):c.48G>A (p.Ala16=)
|
|
|
NM_183050.4(BCKDHB):c.48G>C (p.Ala16=)
|
rs998893388
|
|
NM_183050.4(BCKDHB):c.498G>A (p.Lys166=)
|
|
|
NM_183050.4(BCKDHB):c.501T>C (p.Tyr167=)
|
|
|
NM_183050.4(BCKDHB):c.504C>T (p.Arg168=)
|
rs770906360
|
|
NM_183050.4(BCKDHB):c.507T>C (p.Tyr169=)
|
rs2127775476
|
|
NM_183050.4(BCKDHB):c.510C>T (p.Arg170=)
|
|
|
NM_183050.4(BCKDHB):c.516G>A (p.Gly172=)
|
rs2127775531
|
|
NM_183050.4(BCKDHB):c.525T>C (p.Phe175=)
|
rs2127775566
|
|
NM_183050.4(BCKDHB):c.534A>G (p.Gly178=)
|
rs1582275612
|
|
NM_183050.4(BCKDHB):c.537C>T (p.Ser179=)
|
rs1260482947
|
|
NM_183050.4(BCKDHB):c.540C>T (p.Leu180=)
|
|
|
NM_183050.4(BCKDHB):c.546C>T (p.Ile182=)
|
|
|
NM_183050.4(BCKDHB):c.549G>C (p.Arg183=)
|
|
|
NM_183050.4(BCKDHB):c.549G>T (p.Arg183=)
|
|
|
NM_183050.4(BCKDHB):c.552C>T (p.Ser184=)
|
|
|
NM_183050.4(BCKDHB):c.555T>A (p.Pro185=)
|
rs749123579
|
|
NM_183050.4(BCKDHB):c.561C>T (p.Gly187=)
|
|
|
NM_183050.4(BCKDHB):c.576G>A (p.Gly192=)
|
rs2127775867
|
|
NM_183050.4(BCKDHB):c.582C>G (p.Leu194=)
|
rs1772747208
|
|
NM_183050.4(BCKDHB):c.591T>A (p.Ser197=)
|
|
|
NM_183050.4(BCKDHB):c.600T>G (p.Pro200=)
|
rs1031182895
|
|
NM_183050.4(BCKDHB):c.633+14T>C
|
|
|
NM_183050.4(BCKDHB):c.633+15G>A
|
|
|
NM_183050.4(BCKDHB):c.634-10G>A
|
rs2127779093
|
|
NM_183050.4(BCKDHB):c.634-12C>A
|
|
|
NM_183050.4(BCKDHB):c.634-13T>C
|
|
|
NM_183050.4(BCKDHB):c.634-16A>C
|
|
|
NM_183050.4(BCKDHB):c.634-20A>T
|
|
|
NM_183050.4(BCKDHB):c.634-4G>C
|
|
|
NM_183050.4(BCKDHB):c.634-6T>C
|
rs1332095038
|
|
NM_183050.4(BCKDHB):c.63G>C (p.Gly21=)
|
rs368345065
|
|
NM_183050.4(BCKDHB):c.645C>T (p.Pro215=)
|
|
|
NM_183050.4(BCKDHB):c.651C>T (p.Ser217=)
|
rs1220450249
|
|
NM_183050.4(BCKDHB):c.657C>T (p.Phe219=)
|
rs2127779150
|
|
NM_183050.4(BCKDHB):c.678G>A (p.Leu226=)
|
rs2127779199
|
|
NM_183050.4(BCKDHB):c.681A>G (p.Ser227=)
|
|
|
NM_183050.4(BCKDHB):c.699T>C (p.Asn233=)
|
|
|
NM_183050.4(BCKDHB):c.6G>A (p.Ala2=)
|
rs2127698622
|
|
NM_183050.4(BCKDHB):c.6G>T (p.Ala2=)
|
rs2127698622
|
|
NM_183050.4(BCKDHB):c.702T>C (p.Pro234=)
|
|
|
NM_183050.4(BCKDHB):c.702T>G (p.Pro234=)
|
|
|
NM_183050.4(BCKDHB):c.705T>C (p.Cys235=)
|
|
|
NM_183050.4(BCKDHB):c.708A>C (p.Ile236=)
|
|
|
NM_183050.4(BCKDHB):c.72T>G (p.Arg24=)
|
rs2127698878
|
|
NM_183050.4(BCKDHB):c.742+12C>A
|
|
|
NM_183050.4(BCKDHB):c.742+17T>G
|
|
|
NM_183050.4(BCKDHB):c.742+18T>G
|
|
|
NM_183050.4(BCKDHB):c.742+8T>C
|
|
|
NM_183050.4(BCKDHB):c.742+9T>G
|
rs2127779389
|
|
NM_183050.4(BCKDHB):c.743-12T>C
|
|
|
NM_183050.4(BCKDHB):c.743-15C>G
|
|
|
NM_183050.4(BCKDHB):c.743-15C>T
|
|
|
NM_183050.4(BCKDHB):c.743-15del
|
rs749321740
|
|
NM_183050.4(BCKDHB):c.743-17T>A
|
|
|
NM_183050.4(BCKDHB):c.743-18T>C
|
|
|
NM_183050.4(BCKDHB):c.743-19T>A
|
|
|
NM_183050.4(BCKDHB):c.743-19T>C
|
|
|
NM_183050.4(BCKDHB):c.743-20T>C
|
|
|
NM_183050.4(BCKDHB):c.743-6A>G
|
rs759281718
|
|
NM_183050.4(BCKDHB):c.743-8G>A
|
rs765391530
|
|
NM_183050.4(BCKDHB):c.743-8G>C
|
rs765391530
|
|
NM_183050.4(BCKDHB):c.743-9T>G
|
|
|
NM_183050.4(BCKDHB):c.747A>G (p.Glu249=)
|
rs764125560
|
|
NM_183050.4(BCKDHB):c.753C>A (p.Val251=)
|
rs1582341919
|
|
NM_183050.4(BCKDHB):c.756T>C (p.Pro252=)
|
|
|
NM_183050.4(BCKDHB):c.765A>T (p.Pro255=)
|
rs2127823220
|
|
NM_183050.4(BCKDHB):c.768C>T (p.Tyr256=)
|
rs781723847
|
|
NM_183050.4(BCKDHB):c.771C>T (p.Asn257=)
|
rs2127823243
|
|
NM_183050.4(BCKDHB):c.774C>T (p.Ile258=)
|
rs2127823256
|
|
NM_183050.4(BCKDHB):c.777A>G (p.Pro259=)
|
|
|
NM_183050.4(BCKDHB):c.778C>T (p.Leu260=)
|
rs2127823271
|
|
NM_183050.4(BCKDHB):c.780G>A (p.Leu260=)
|
|
|
NM_183050.4(BCKDHB):c.780G>C (p.Leu260=)
|
|
|
NM_183050.4(BCKDHB):c.804A>G (p.Glu268=)
|
rs769220378
|
|
NM_183050.4(BCKDHB):c.813T>C (p.Asp271=)
|
|
|
NM_183050.4(BCKDHB):c.81T>C (p.Pro27=)
|
|
|
NM_183050.4(BCKDHB):c.828C>T (p.Ala276=)
|
|
|
NM_183050.4(BCKDHB):c.834C>T (p.Gly278=)
|
|
|
NM_183050.4(BCKDHB):c.840+12T>G
|
|
|
NM_183050.4(BCKDHB):c.840+15dup
|
|
|
NM_183050.4(BCKDHB):c.840+20A>G
|
|
|
NM_183050.4(BCKDHB):c.840+8G>A
|
|
|
NM_183050.4(BCKDHB):c.84C>A (p.Gly28=)
|
|
|
NM_183050.4(BCKDHB):c.84C>G (p.Gly28=)
|
rs776261412
|
|
NM_183050.4(BCKDHB):c.861A>C (p.Val287=)
|
rs1358699136
|
|
NM_183050.4(BCKDHB):c.861A>T (p.Val287=)
|
rs1358699136
|
|
NM_183050.4(BCKDHB):c.900A>G (p.Glu300=)
|
rs2127826950
|
|
NM_183050.4(BCKDHB):c.903C>T (p.Val301=)
|
|
|
NM_183050.4(BCKDHB):c.915G>A (p.Arg305=)
|
|
|
NM_183050.4(BCKDHB):c.939C>T (p.Asp313=)
|
rs2127827076
|
|
NM_183050.4(BCKDHB):c.951+10T>C
|
|
|
NM_183050.4(BCKDHB):c.951+11A>C
|
|
|
NM_183050.4(BCKDHB):c.951+7A>C
|
rs2127827133
|
|
NM_183050.4(BCKDHB):c.951+8T>A
|
rs749433792
|
|
NM_183050.4(BCKDHB):c.951+9A>C
|
rs374054207
|
|
NM_183050.4(BCKDHB):c.951+9A>G
|
rs374054207
|
|
NM_183050.4(BCKDHB):c.952-13T>C
|
|
|
NM_183050.4(BCKDHB):c.952-14C>G
|
rs1777820973
|
|
NM_183050.4(BCKDHB):c.952-14C>T
|
|
|
NM_183050.4(BCKDHB):c.952-5T>G
|
|
|
NM_183050.4(BCKDHB):c.969G>A (p.Gly323=)
|
|
|
NM_183050.4(BCKDHB):c.969G>C (p.Gly323=)
|
rs764707388
|
|
NM_183050.4(BCKDHB):c.96G>A (p.Ala32=)
|
rs1769084493
|
|
NM_183050.4(BCKDHB):c.96G>C (p.Ala32=)
|
|
|
NM_183050.4(BCKDHB):c.970C>A (p.Arg324=)
|
|
|
NM_183050.4(BCKDHB):c.975G>T (p.Leu325=)
|
|
|
NM_183050.4(BCKDHB):c.976C>T (p.Leu326=)
|
rs2127965109
|
|
NM_183050.4(BCKDHB):c.996C>G (p.Pro332=)
|
|
|
NM_183050.4(BCKDHB):c.996C>T (p.Pro332=)
|
|
|
NM_183050.4(BCKDHB):c.99G>A (p.Arg33=)
|
|
|
NM_201253.3(CRB1):c.1002C>T (p.Ala334=)
|
|
|
NM_201253.3(CRB1):c.1011G>A (p.Glu337=)
|
rs1013396657
|
|
NM_201253.3(CRB1):c.1017C>T (p.Asp339=)
|
|
|
NM_201253.3(CRB1):c.1020C>T (p.Leu340=)
|
|
|
NM_201253.3(CRB1):c.102C>T (p.Cys34=)
|
rs2125303585
|
|
NM_201253.3(CRB1):c.1038C>T (p.Asn346=)
|
rs1320196113
|
|
NM_201253.3(CRB1):c.1071G>A (p.Leu357=)
|
|
|
NM_201253.3(CRB1):c.1074C>A (p.Ser358=)
|
|
|
NM_201253.3(CRB1):c.1080G>A (p.Glu360=)
|
|
|
NM_201253.3(CRB1):c.108A>G (p.Ser36=)
|
|
|
NM_201253.3(CRB1):c.1095C>T (p.Arg365=)
|
|
|
NM_201253.3(CRB1):c.1107G>A (p.Leu369=)
|
rs774597915
|
|
NM_201253.3(CRB1):c.1122C>T (p.Ser374=)
|
rs1571897069
|
|
NM_201253.3(CRB1):c.1128T>C (p.His376=)
|
rs2125354691
|
|
NM_201253.3(CRB1):c.1137A>G (p.Ser379=)
|
|
|
NM_201253.3(CRB1):c.114T>C (p.Ser38=)
|
rs2125303623
|
|
NM_201253.3(CRB1):c.1161T>C (p.Pro387=)
|
rs746407080
|
|
NM_201253.3(CRB1):c.1164A>T (p.Gly388=)
|
|
|
NM_201253.3(CRB1):c.1171+10A>G
|
rs2125354843
|
|
NM_201253.3(CRB1):c.1171+11G>C
|
rs2125354847
|
|
NM_201253.3(CRB1):c.1171+15A>G
|
|
|
NM_201253.3(CRB1):c.1171+7C>A
|
|
|
NM_201253.3(CRB1):c.1171+7C>T
|
|
|
NM_201253.3(CRB1):c.1171+8C>A
|
|
|
NM_201253.3(CRB1):c.1171+9A>G
|
|
|
NM_201253.3(CRB1):c.1172-10T>G
|
rs2125468756
|
|
NM_201253.3(CRB1):c.1172-12del
|
|
|
NM_201253.3(CRB1):c.1172-15T>C
|
rs375141011
|
|
NM_201253.3(CRB1):c.1172-18T>G
|
|
|
NM_201253.3(CRB1):c.1172-7T>C
|
|
|
NM_201253.3(CRB1):c.1172-8T>C
|
|
|
NM_201253.3(CRB1):c.1185A>G (p.Glu395=)
|
rs2125468817
|
|
NM_201253.3(CRB1):c.1194C>G (p.Val398=)
|
|
|
NM_201253.3(CRB1):c.1194C>T (p.Val398=)
|
rs1211619415
|
|
NM_201253.3(CRB1):c.1218C>T (p.Cys406=)
|
rs2125468930
|
|
NM_201253.3(CRB1):c.1224T>C (p.Asn408=)
|
rs1352300215
|
|
NM_201253.3(CRB1):c.1233T>A (p.Thr411=)
|
rs2125468968
|
|
NM_201253.3(CRB1):c.1242C>T (p.Asn414=)
|
|
|
NM_201253.3(CRB1):c.1253A>G (p.Asn418Ser)
|
|
|
NM_201253.3(CRB1):c.1263C>T (p.Cys421=)
|
|
|
NM_201253.3(CRB1):c.1266T>C (p.His422=)
|
|
|
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile)
|
rs751691851
|
|
NM_201253.3(CRB1):c.129T>A (p.Ser43=)
|
rs2125303659
|
|
NM_201253.3(CRB1):c.12G>A (p.Lys4=)
|
rs1452970703
|
|
NM_201253.3(CRB1):c.1305A>G (p.Gly435=)
|
rs34813822
|
|
NM_201253.3(CRB1):c.1306A>C (p.Arg436=)
|
|
|
NM_201253.3(CRB1):c.1317T>C (p.Ser439=)
|
|
|
NM_201253.3(CRB1):c.1326C>T (p.Leu442=)
|
|
|
NM_201253.3(CRB1):c.1356T>C (p.Asn452=)
|
|
|
NM_201253.3(CRB1):c.1362A>G (p.Gly454=)
|
rs2125469375
|
|
NM_201253.3(CRB1):c.1380C>T (p.Phe460=)
|
|
|
NM_201253.3(CRB1):c.1389C>G (p.Gly463=)
|
|
|
NM_201253.3(CRB1):c.1408C>T (p.Leu470=)
|
|
|
NM_201253.3(CRB1):c.1416A>G (p.Pro472=)
|
|
|
NM_201253.3(CRB1):c.1425C>T (p.Tyr475=)
|
rs2125469515
|
|
NM_201253.3(CRB1):c.1428C>G (p.Thr476=)
|
rs62636282
|
|
NM_201253.3(CRB1):c.1431G>A (p.Gly477=)
|
rs761872993
|
|
NM_201253.3(CRB1):c.1431G>T (p.Gly477=)
|
rs761872993
|
|
NM_201253.3(CRB1):c.1447G>A (p.Ala483Thr)
|
|
|
NM_201253.3(CRB1):c.144T>C (p.Phe48=)
|
rs2125303703
|
|
NM_201253.3(CRB1):c.1476C>T (p.Gly492=)
|
|
|
NM_201253.3(CRB1):c.1512G>A (p.Lys504=)
|
rs1208469570
|
|
NM_201253.3(CRB1):c.1521T>G (p.Val507=)
|
rs1664303513
|
|
NM_201253.3(CRB1):c.1539G>A (p.Arg513=)
|
rs1571523693
|
|
NM_201253.3(CRB1):c.153C>T (p.Asp51=)
|
|
|
NM_201253.3(CRB1):c.1557A>G (p.Pro519=)
|
|
|
NM_201253.3(CRB1):c.1572T>C (p.Leu524=)
|
rs1571523807
|
|
NM_201253.3(CRB1):c.1585A>C (p.Arg529=)
|
rs2125470067
|
|
NM_201253.3(CRB1):c.1593G>A (p.Val531=)
|
|
|
NM_201253.3(CRB1):c.1593G>T (p.Val531=)
|
|
|
NM_201253.3(CRB1):c.1617T>C (p.Ser539=)
|
|
|
NM_201253.3(CRB1):c.162T>C (p.Cys54=)
|
rs1426861310
|
|
NM_201253.3(CRB1):c.1659G>A (p.Lys553=)
|
rs748644955
|
|
NM_201253.3(CRB1):c.1665T>C (p.Leu555=)
|
|
|
NM_201253.3(CRB1):c.1668G>C (p.Leu556=)
|
|
|
NM_201253.3(CRB1):c.1671C>T (p.Phe557=)
|
rs2125470440
|
|
NM_201253.3(CRB1):c.1677C>T (p.Ser559=)
|
|
|
NM_201253.3(CRB1):c.1686C>A (p.Thr562=)
|
|
|
NM_201253.3(CRB1):c.1689C>T (p.Ser563=)
|
|
|
NM_201253.3(CRB1):c.1692T>C (p.Asp564=)
|
|
|
NM_201253.3(CRB1):c.1707C>T (p.Phe569=)
|
rs201885772
|
|
NM_201253.3(CRB1):c.1713G>A (p.Glu571=)
|
rs375514026
|
|
NM_201253.3(CRB1):c.1725A>G (p.Ala575=)
|
rs1240962420
|
|
NM_201253.3(CRB1):c.1734G>A (p.Val578=)
|
|
|
NM_201253.3(CRB1):c.1737C>A (p.Thr579=)
|
rs775441906
|
|
NM_201253.3(CRB1):c.1737C>T (p.Thr579=)
|
rs775441906
|
|
NM_201253.3(CRB1):c.1740T>C (p.Leu580=)
|
rs2125470719
|
|
NM_201253.3(CRB1):c.1743C>A (p.Thr581=)
|
|
|
NM_201253.3(CRB1):c.1749C>A (p.Ile583=)
|
|
|
NM_201253.3(CRB1):c.174C>T (p.Asp58=)
|
|
|
NM_201253.3(CRB1):c.1767G>A (p.Glu589=)
|
rs142458114
|
|
NM_201253.3(CRB1):c.1770A>G (p.Lys590=)
|
rs1350306887
|
|
NM_201253.3(CRB1):c.1779G>A (p.Ala593=)
|
|
|
NM_201253.3(CRB1):c.1779G>T (p.Ala593=)
|
rs778428918
|
|
NM_201253.3(CRB1):c.1791T>C (p.Thr597=)
|
rs2125470969
|
|
NM_201253.3(CRB1):c.1797T>C (p.Leu599=)
|
rs2125470983
|
|
NM_201253.3(CRB1):c.180C>G (p.Ala60=)
|
|
|
NM_201253.3(CRB1):c.1812A>G (p.Ser604=)
|
rs2125471031
|
|
NM_201253.3(CRB1):c.1824T>C (p.Phe608=)
|
rs2125471055
|
|
NM_201253.3(CRB1):c.183T>C (p.Asn61=)
|
rs1338529935
|
|
NM_201253.3(CRB1):c.1854G>A (p.Val618=)
|
|
|
NM_201253.3(CRB1):c.1863C>T (p.Thr621=)
|
rs1160778866
|
|
NM_201253.3(CRB1):c.1875T>G (p.Val625=)
|
rs917245598
|
|
NM_201253.3(CRB1):c.1878T>C (p.Ala626=)
|
rs1413323140
|
|
NM_201253.3(CRB1):c.1879C>T (p.Leu627=)
|
|
|
NM_201253.3(CRB1):c.1881G>T (p.Leu627=)
|
|
|
NM_201253.3(CRB1):c.1896T>C (p.Asn632=)
|
rs2125471353
|
|
NM_201253.3(CRB1):c.1902A>G (p.Pro634=)
|
|
|
NM_201253.3(CRB1):c.1908A>G (p.Thr636=)
|
|
|
NM_201253.3(CRB1):c.1914G>T (p.Ser638=)
|
rs780682072
|
|
NM_201253.3(CRB1):c.1920A>G (p.Val640=)
|
rs2125471484
|
|
NM_201253.3(CRB1):c.1929C>G (p.Leu643=)
|
rs1235841860
|
|
NM_201253.3(CRB1):c.1929C>T (p.Leu643=)
|
|
|
NM_201253.3(CRB1):c.1932A>G (p.Gln644=)
|
|
|
NM_201253.3(CRB1):c.1944T>C (p.Ile648=)
|
rs978090242
|
|
NM_201253.3(CRB1):c.1962C>A (p.Thr654=)
|
|
|
NM_201253.3(CRB1):c.1971C>T (p.Asn657=)
|
|
|
NM_201253.3(CRB1):c.1977G>T (p.Ser659=)
|
|
|
NM_201253.3(CRB1):c.1989A>G (p.Ser663=)
|
rs557541175
|
|
NM_201253.3(CRB1):c.198C>T (p.Asp66=)
|
|
|
NM_201253.3(CRB1):c.1998C>A (p.Val666=)
|
rs2125471766
|
|
NM_201253.3(CRB1):c.1998C>G (p.Val666=)
|
|
|
NM_201253.3(CRB1):c.1998C>T (p.Val666=)
|
|
|
NM_201253.3(CRB1):c.2001G>A (p.Lys667=)
|
|
|
NM_201253.3(CRB1):c.2037A>G (p.Gln679=)
|
|
|
NM_201253.3(CRB1):c.2068T>C (p.Leu690=)
|
|
|
NM_201253.3(CRB1):c.2070G>A (p.Leu690=)
|
|
|
NM_201253.3(CRB1):c.2074C>T (p.Leu692=)
|
rs2125472030
|
|
NM_201253.3(CRB1):c.2097C>T (p.His699=)
|
|
|
NM_201253.3(CRB1):c.2100G>A (p.Arg700=)
|
rs2125472092
|
|
NM_201253.3(CRB1):c.2112C>T (p.Gly704=)
|
|
|
NM_201253.3(CRB1):c.2124G>A (p.Leu708=)
|
rs2125472182
|
|
NM_201253.3(CRB1):c.2128+14G>A
|
rs2125472215
|
|
NM_201253.3(CRB1):c.2128+18del
|
|
|
NM_201253.3(CRB1):c.2128+19C>T
|
|
|
NM_201253.3(CRB1):c.2129-20C>T
|
|
|
NM_201253.3(CRB1):c.2129-5T>G
|
|
|
NM_201253.3(CRB1):c.2129-7A>C
|
|
|
NM_201253.3(CRB1):c.2129-7A>T
|
rs773844151
|
|
NM_201253.3(CRB1):c.2130G>A (p.Glu710=)
|
|
|
NM_201253.3(CRB1):c.2133T>C (p.Tyr711=)
|
|
|
NM_201253.3(CRB1):c.2139A>G (p.Ala713=)
|
rs2125483545
|
|
NM_201253.3(CRB1):c.213A>G (p.Lys71=)
|
rs2125303816
|
|
NM_201253.3(CRB1):c.2142C>A (p.Gly714=)
|
|
|
NM_201253.3(CRB1):c.2175C>A (p.Val725=)
|
rs1021271157
|
|
NM_201253.3(CRB1):c.2178C>A (p.Ile726=)
|
|
|
NM_201253.3(CRB1):c.2184T>A (p.Thr728=)
|
rs777644631
|
|
NM_201253.3(CRB1):c.2187T>C (p.Leu729=)
|
|
|
NM_201253.3(CRB1):c.2190T>C (p.Asp730=)
|
|
|
NM_201253.3(CRB1):c.2205C>T (p.Asp735=)
|
|
|
NM_201253.3(CRB1):c.2208C>T (p.Thr736=)
|
rs1265675307
|
|
NM_201253.3(CRB1):c.2226T>C (p.Phe742=)
|
rs1664649939
|
|
NM_201253.3(CRB1):c.2257C>T (p.Leu753=)
|
rs2125483948
|
|
NM_201253.3(CRB1):c.2259A>G (p.Leu753=)
|
rs2125483955
|
|
NM_201253.3(CRB1):c.2268A>G (p.Glu756=)
|
rs1240250876
|
|
NM_201253.3(CRB1):c.2274C>T (p.Ser758=)
|
|
|
NM_201253.3(CRB1):c.2277T>C (p.Thr759=)
|
rs2125484014
|
|
NM_201253.3(CRB1):c.2280T>C (p.Tyr760=)
|
|
|
NM_201253.3(CRB1):c.228C>T (p.Ser76=)
|
|
|
NM_201253.3(CRB1):c.2301A>G (p.Leu767=)
|
rs2125484113
|
|
NM_201253.3(CRB1):c.2307C>G (p.Arg769=)
|
|
|
NM_201253.3(CRB1):c.2316A>G (p.Leu772=)
|
rs964544440
|
|
NM_201253.3(CRB1):c.2328T>C (p.Thr776=)
|
|
|
NM_201253.3(CRB1):c.2334C>T (p.Asn778=)
|
rs765210114
|
|
NM_201253.3(CRB1):c.2340C>T (p.Pro780=)
|
rs2125484301
|
|
NM_201253.3(CRB1):c.2343A>G (p.Lys781=)
|
|
|
NM_201253.3(CRB1):c.2346A>G (p.Leu782=)
|
|
|
NM_201253.3(CRB1):c.234C>G (p.Pro78=)
|
rs1216212132
|
|
NM_201253.3(CRB1):c.2358T>C (p.Phe786=)
|
rs1371610654
|
|
NM_201253.3(CRB1):c.2379C>T (p.Val793=)
|
rs2125484466
|
|
NM_201253.3(CRB1):c.2382C>T (p.His794=)
|
|
|
NM_201253.3(CRB1):c.2406A>C (p.Pro802=)
|
rs141103073
|
|
NM_201253.3(CRB1):c.2406A>G (p.Pro802=)
|
|
|
NM_201253.3(CRB1):c.2421G>C (p.Leu807=)
|
rs2125484620
|
|
NM_201253.3(CRB1):c.2433A>G (p.Ser811=)
|
rs2125484661
|
|
NM_201253.3(CRB1):c.2478G>A (p.Lys826=)
|
rs1174487197
|
|
NM_201253.3(CRB1):c.2487C>T (p.Val829=)
|
|
|
NM_201253.3(CRB1):c.2493C>T (p.Tyr831=)
|
rs2125484854
|
|
NM_201253.3(CRB1):c.249C>T (p.Ala83=)
|
|
|
NM_201253.3(CRB1):c.24C>T (p.Tyr8=)
|
rs1044326530
|
|
NM_201253.3(CRB1):c.2505A>G (p.Leu835=)
|
|
|
NM_201253.3(CRB1):c.2517A>G (p.Gln839=)
|
|
|
NM_201253.3(CRB1):c.2541C>T (p.Phe847=)
|
rs1664675234
|
|
NM_201253.3(CRB1):c.2553T>C (p.Cys851=)
|
|
|
NM_201253.3(CRB1):c.2565A>G (p.Val855=)
|
|
|
NM_201253.3(CRB1):c.2569C>T (p.Leu857=)
|
rs1571540576
|
|
NM_201253.3(CRB1):c.2574C>T (p.Asn858=)
|
rs2125485154
|
|
NM_201253.3(CRB1):c.2583T>C (p.Asn861=)
|
rs2125485214
|
|
NM_201253.3(CRB1):c.2598A>G (p.Pro866=)
|
rs1336253157
|
|
NM_201253.3(CRB1):c.2616A>C (p.Ala872=)
|
rs2125485328
|
|
NM_201253.3(CRB1):c.2622C>G (p.Leu874=)
|
|
|
NM_201253.3(CRB1):c.2628A>G (p.Pro876=)
|
rs778063991
|
|
NM_201253.3(CRB1):c.2634T>C (p.Leu878=)
|
rs2125485390
|
|
NM_201253.3(CRB1):c.2643A>G (p.Val881=)
|
rs1434264303
|
|
NM_201253.3(CRB1):c.2646C>G (p.Thr882=)
|
rs2125485474
|
|
NM_201253.3(CRB1):c.264C>A (p.Thr88=)
|
rs2125303935
|
|
NM_201253.3(CRB1):c.264C>T (p.Thr88=)
|
|
|
NM_201253.3(CRB1):c.2655T>C (p.Cys885=)
|
|
|
NM_201253.3(CRB1):c.2667C>T (p.Asn889=)
|
|
|
NM_201253.3(CRB1):c.2676+11C>A
|
|
|
NM_201253.3(CRB1):c.2676+12T>G
|
|
|
NM_201253.3(CRB1):c.2676+15T>A
|
rs370353322
|
|
NM_201253.3(CRB1):c.2676+15T>C
|
rs370353322
|
|
NM_201253.3(CRB1):c.2676+16A>G
|
|
|
NM_201253.3(CRB1):c.2676+7A>T
|
rs774387451
|
|
NM_201253.3(CRB1):c.2677-20T>C
|
|
|
NM_201253.3(CRB1):c.2682C>T (p.Asn894=)
|
|
|
NM_201253.3(CRB1):c.2688T>C (p.Cys896=)
|
|
|
NM_201253.3(CRB1):c.2703T>A (p.Val901=)
|
rs2125488798
|
|
NM_201253.3(CRB1):c.2703T>C (p.Val901=)
|
|
|
NM_201253.3(CRB1):c.2712C>T (p.Ser904=)
|
rs1322966199
|
|
NM_201253.3(CRB1):c.2715G>T (p.Arg905=)
|
|
|
NM_201253.3(CRB1):c.2736C>T (p.Ser912=)
|
|
|
NM_201253.3(CRB1):c.2742T>C (p.Pro914=)
|
rs2125488923
|
|
NM_201253.3(CRB1):c.2745C>T (p.Ala915=)
|
rs1664770222
|
|
NM_201253.3(CRB1):c.2748C>T (p.Leu916=)
|
rs1664770624
|
|
NM_201253.3(CRB1):c.2751A>G (p.Thr917=)
|
rs936120896
|
|
NM_201253.3(CRB1):c.2751A>T (p.Thr917=)
|
|
|
NM_201253.3(CRB1):c.2763C>G (p.Ala921=)
|
rs2125489012
|
|
NM_201253.3(CRB1):c.2772G>A (p.Glu924=)
|
rs1664772199
|
|
NM_201253.3(CRB1):c.2775T>G (p.Val925=)
|
|
|
NM_201253.3(CRB1):c.2796G>C (p.Pro932=)
|
|
|
NM_201253.3(CRB1):c.2799T>C (p.Cys933=)
|
rs1334984837
|
|
NM_201253.3(CRB1):c.2802T>C (p.Pro934=)
|
|
|
NM_201253.3(CRB1):c.2805C>T (p.His935=)
|
|
|
NM_201253.3(CRB1):c.2811C>A (p.Ala937=)
|
|
|
NM_201253.3(CRB1):c.2814G>A (p.Gln938=)
|
|
|
NM_201253.3(CRB1):c.2826G>A (p.Val942=)
|
rs781176401
|
|
NM_201253.3(CRB1):c.2842+10G>A
|
|
|
NM_201253.3(CRB1):c.2842+13C>T
|
|
|
NM_201253.3(CRB1):c.2842+20A>G
|
|
|
NM_201253.3(CRB1):c.2842+7A>G
|
rs2125489345
|
|
NM_201253.3(CRB1):c.2842+8G>T
|
|
|
NM_201253.3(CRB1):c.2842+9A>T
|
|
|
NM_201253.3(CRB1):c.2843-15A>G
|
|
|
NM_201253.3(CRB1):c.2843-3dup
|
rs776525385
|
|
NM_201253.3(CRB1):c.2843-5A>T
|
|
|
NM_201253.3(CRB1):c.2847T>A (p.Ile949=)
|
rs2125498699
|
|
NM_201253.3(CRB1):c.2847T>C (p.Ile949=)
|
|
|
NM_201253.3(CRB1):c.2862T>C (p.Phe954=)
|
|
|
NM_201253.3(CRB1):c.2865T>C (p.Asn955=)
|
rs2125498741
|
|
NM_201253.3(CRB1):c.2868A>G (p.Gly956=)
|
rs1359395833
|
|
NM_201253.3(CRB1):c.2877T>A (p.Gly959=)
|
|
|
NM_201253.3(CRB1):c.288C>T (p.Cys96=)
|
|
|
NM_201253.3(CRB1):c.2898T>C (p.Asn966=)
|
rs2125498858
|
|
NM_201253.3(CRB1):c.2901G>A (p.Gly967=)
|
rs773815247
|
|
NM_201253.3(CRB1):c.2901G>C (p.Gly967=)
|
rs773815247
|
|
NM_201253.3(CRB1):c.2907T>C (p.Ile969=)
|
|
|
NM_201253.3(CRB1):c.2922C>G (p.Thr974=)
|
|
|
NM_201253.3(CRB1):c.2949G>A (p.Arg983=)
|
rs2125499002
|
|
NM_201253.3(CRB1):c.2958T>C (p.Asn986=)
|
|
|
NM_201253.3(CRB1):c.2961A>G (p.Val987=)
|
|
|
NM_201253.3(CRB1):c.2967A>T (p.Ile989=)
|
|
|
NM_201253.3(CRB1):c.303G>C (p.Gly101=)
|
|
|
NM_201253.3(CRB1):c.3048C>T (p.Asn1016=)
|
rs2125499296
|
|
NM_201253.3(CRB1):c.3051C>T (p.Ser1017=)
|
|
|
NM_201253.3(CRB1):c.3054T>C (p.Phe1018=)
|
rs963461440
|
|
NM_201253.3(CRB1):c.3069G>A (p.Leu1023=)
|
|
|
NM_201253.3(CRB1):c.3075T>C (p.Ser1025=)
|
|
|
NM_201253.3(CRB1):c.3093T>C (p.Asp1031=)
|
|
|
NM_201253.3(CRB1):c.3099A>G (p.Thr1033=)
|
rs2125499446
|
|
NM_201253.3(CRB1):c.30C>T (p.Leu10=)
|
|
|
NM_201253.3(CRB1):c.3108A>G (p.Glu1036=)
|
rs2125499489
|
|
NM_201253.3(CRB1):c.3111G>C (p.Val1037=)
|
|
|
NM_201253.3(CRB1):c.3120C>T (p.Ser1040=)
|
rs1571556490
|
|
NM_201253.3(CRB1):c.312G>A (p.Gly104=)
|
rs2125304069
|
|
NM_201253.3(CRB1):c.3144C>T (p.Thr1048=)
|
rs2125499576
|
|
NM_201253.3(CRB1):c.3147C>T (p.Ser1049=)
|
|
|
NM_201253.3(CRB1):c.3189C>T (p.Thr1063=)
|
|
|
NM_201253.3(CRB1):c.318C>T (p.Ile106=)
|
|
|
NM_201253.3(CRB1):c.3195A>G (p.Thr1065=)
|
rs1571556837
|
|
NM_201253.3(CRB1):c.3204T>C (p.Thr1068=)
|
|
|
NM_201253.3(CRB1):c.3213C>T (p.Leu1071=)
|
rs2125499764
|
|
NM_201253.3(CRB1):c.3225G>A (p.Lys1075=)
|
|
|
NM_201253.3(CRB1):c.3231T>C (p.Asn1077=)
|
rs2125499828
|
|
NM_201253.3(CRB1):c.3243T>C (p.Tyr1081=)
|
rs1665078340
|
|
NM_201253.3(CRB1):c.3255A>G (p.Arg1085=)
|
|
|
NM_201253.3(CRB1):c.3258T>C (p.Ala1086=)
|
|
|
NM_201253.3(CRB1):c.3267T>C (p.Asn1089=)
|
|
|
NM_201253.3(CRB1):c.3270A>T (p.Ile1090=)
|
|
|
NM_201253.3(CRB1):c.3273G>A (p.Lys1091=)
|
rs2125499953
|
|
NM_201253.3(CRB1):c.3277C>T (p.Leu1093=)
|
rs1051901493
|
|
NM_201253.3(CRB1):c.3279G>A (p.Leu1093=)
|
|
|
NM_201253.3(CRB1):c.3282A>G (p.Gln1094=)
|
rs752719776
|
|
NM_201253.3(CRB1):c.3285G>T (p.Gly1095=)
|
rs1030214290
|
|
NM_201253.3(CRB1):c.3297A>G (p.Thr1099=)
|
rs2125500012
|
|
NM_201253.3(CRB1):c.3306C>A (p.Ile1102=)
|
|
|
NM_201253.3(CRB1):c.3309A>G (p.Gly1103=)
|
|
|
NM_201253.3(CRB1):c.3312C>G (p.Gly1104=)
|
|
|
NM_201253.3(CRB1):c.3312C>T (p.Gly1104=)
|
|
|
NM_201253.3(CRB1):c.3327C>T (p.Tyr1109=)
|
|
|
NM_201253.3(CRB1):c.3345T>C (p.Gly1115=)
|
rs1665087283
|
|
NM_201253.3(CRB1):c.3348C>T (p.Phe1116=)
|
|
|
NM_201253.3(CRB1):c.3357A>G (p.Lys1119=)
|
|
|
NM_201253.3(CRB1):c.3384C>A (p.Ile1128=)
|
rs2125500314
|
|
NM_201253.3(CRB1):c.3387T>G (p.Ser1129=)
|
|
|
NM_201253.3(CRB1):c.3396A>T (p.Ser1132=)
|
rs1209147052
|
|
NM_201253.3(CRB1):c.339C>T (p.Ser113=)
|
rs1220315666
|
|
NM_201253.3(CRB1):c.3408C>A (p.Gly1136=)
|
rs2125500386
|
|
NM_201253.3(CRB1):c.3408C>G (p.Gly1136=)
|
|
|
NM_201253.3(CRB1):c.3411T>C (p.Cys1137=)
|
|
|
NM_201253.3(CRB1):c.3412T>C (p.Leu1138=)
|
|
|
NM_201253.3(CRB1):c.3418T>C (p.Leu1140=)
|
|
|
NM_201253.3(CRB1):c.3418T>G (p.Leu1140Val)
|
|
|
NM_201253.3(CRB1):c.3429C>T (p.Cys1143=)
|
|
|
NM_201253.3(CRB1):c.3432C>T (p.Asn1144=)
|
rs199596437
|
|
NM_201253.3(CRB1):c.3438C>T (p.Asn1146=)
|
|
|
NM_201253.3(CRB1):c.3445T>C (p.Leu1149=)
|
rs2125500500
|
|
NM_201253.3(CRB1):c.345C>G (p.Gly115=)
|
|
|
NM_201253.3(CRB1):c.3477C>T (p.Ser1159=)
|
rs2125500600
|
|
NM_201253.3(CRB1):c.3489C>T (p.Cys1163=)
|
|
|
NM_201253.3(CRB1):c.3510A>G (p.Ser1170=)
|
rs1665100853
|
|
NM_201253.3(CRB1):c.3528C>G (p.Leu1176=)
|
rs2125500753
|
|
NM_201253.3(CRB1):c.3531C>T (p.Asn1177=)
|
|
|
NM_201253.3(CRB1):c.3532A>G (p.Ile1178Val)
|
|
|
NM_201253.3(CRB1):c.354C>T (p.Ser118=)
|
|
|
NM_201253.3(CRB1):c.3561C>T (p.Ile1187=)
|
|
|
NM_201253.3(CRB1):c.3585T>C (p.Val1195=)
|
rs1007859886
|
|
NM_201253.3(CRB1):c.3603A>G (p.Thr1201=)
|
|
|
NM_201253.3(CRB1):c.360A>G (p.Gln120=)
|
rs1658671916
|
|
NM_201253.3(CRB1):c.3621T>C (p.Thr1207=)
|
|
|
NM_201253.3(CRB1):c.3636A>G (p.Glu1212=)
|
rs2125500988
|
|
NM_201253.3(CRB1):c.3663C>T (p.His1221=)
|
rs1250767401
|
|
NM_201253.3(CRB1):c.3666G>A (p.Gln1222=)
|
|
|
NM_201253.3(CRB1):c.3681C>A (p.Ala1227=)
|
|
|
NM_201253.3(CRB1):c.3684C>T (p.Thr1228=)
|
|
|
NM_201253.3(CRB1):c.3699T>C (p.Thr1233=)
|
|
|
NM_201253.3(CRB1):c.3717C>T (p.Leu1239=)
|
rs370095562
|
|
NM_201253.3(CRB1):c.3729T>C (p.Asn1243=)
|
|
|
NM_201253.3(CRB1):c.372T>C (p.Ile124=)
|
|
|
NM_201253.3(CRB1):c.3735A>T (p.Thr1245=)
|
|
|
NM_201253.3(CRB1):c.3749+15C>G
|
|
|
NM_201253.3(CRB1):c.3749+17T>C
|
|
|
NM_201253.3(CRB1):c.3749+18A>C
|
|
|
NM_201253.3(CRB1):c.3749+8T>A
|
rs2125501305
|
|
NM_201253.3(CRB1):c.3749+9A>G
|
|
|
NM_201253.3(CRB1):c.3750-10A>G
|
|
|
NM_201253.3(CRB1):c.3750-16G>A
|
|
|
NM_201253.3(CRB1):c.3750-16G>C
|
|
|
NM_201253.3(CRB1):c.3750-6C>T
|
|
|
NM_201253.3(CRB1):c.3753G>A (p.Gln1251=)
|
rs1665273242
|
|
NM_201253.3(CRB1):c.3762A>G (p.Leu1254=)
|
rs2125506161
|
|
NM_201253.3(CRB1):c.3777T>C (p.Cys1259=)
|
|
|
NM_201253.3(CRB1):c.3783T>C (p.Asn1261=)
|
|
|
NM_201253.3(CRB1):c.3795T>C (p.Asn1265=)
|
rs2125506234
|
|
NM_201253.3(CRB1):c.3804C>T (p.Cys1268=)
|
rs2125506255
|
|
NM_201253.3(CRB1):c.3813A>C (p.Gly1271=)
|
|
|
NM_201253.3(CRB1):c.381G>A (p.Gln127=)
|
rs6690444
|
|
NM_201253.3(CRB1):c.3825A>G (p.Thr1275=)
|
|
|
NM_201253.3(CRB1):c.3846A>G (p.Lys1282=)
|
|
|
NM_201253.3(CRB1):c.3867T>C (p.Phe1289=)
|
|
|
NM_201253.3(CRB1):c.3870T>C (p.Thr1290=)
|
|
|
NM_201253.3(CRB1):c.3878+10_3878+15del
|
rs2125506544
|
|
NM_201253.3(CRB1):c.3878+10_3878+17del
|
|
|
NM_201253.3(CRB1):c.3878+12T>C
|
|
|
NM_201253.3(CRB1):c.3878+14G>C
|
|
|
NM_201253.3(CRB1):c.3878+17C>A
|
|
|
NM_201253.3(CRB1):c.3878+17C>G
|
|
|
NM_201253.3(CRB1):c.3878+7C>T
|
|
|
NM_201253.3(CRB1):c.3878+9C>T
|
rs1571564812
|
|
NM_201253.3(CRB1):c.3879-13G>A
|
|
|
NM_201253.3(CRB1):c.3879-15C>T
|
|
|
NM_201253.3(CRB1):c.3879-15_3879-12del
|
rs2125513517
|
|
NM_201253.3(CRB1):c.3879-16T>A
|
|
|
NM_201253.3(CRB1):c.3879-16T>C
|
|
|
NM_201253.3(CRB1):c.3879-16T>G
|
rs376774507
|
|
NM_201253.3(CRB1):c.3879-4G>T
|
rs373719645
|
|
NM_201253.3(CRB1):c.3879-9A>G
|
rs2125513531
|
|
NM_201253.3(CRB1):c.387T>C (p.Pro129=)
|
|
|
NM_201253.3(CRB1):c.3891C>T (p.Asp1297=)
|
|
|
NM_201253.3(CRB1):c.3909T>C (p.Ser1303=)
|
rs2125513623
|
|
NM_201253.3(CRB1):c.3915G>C (p.Pro1305=)
|
rs541488801
|
|
NM_201253.3(CRB1):c.3921C>G (p.Val1307=)
|
rs1223786607
|
|
NM_201253.3(CRB1):c.3933G>A (p.Leu1311=)
|
rs372846698
|
|
NM_201253.3(CRB1):c.3936C>T (p.Cys1312=)
|
|
|
NM_201253.3(CRB1):c.3954A>G (p.Lys1318=)
|
rs1267070832
|
|
NM_201253.3(CRB1):c.396T>C (p.Pro132=)
|
|
|
NM_201253.3(CRB1):c.3972T>C (p.Asp1324=)
|
|
|
NM_201253.3(CRB1):c.3990G>A (p.Glu1330=)
|
|
|
NM_201253.3(CRB1):c.3996C>T (p.Cys1332=)
|
|
|
NM_201253.3(CRB1):c.399C>G (p.Val133=)
|
|
|
NM_201253.3(CRB1):c.4006-11A>G
|
|
|
NM_201253.3(CRB1):c.4006-19A>G
|
|
|
NM_201253.3(CRB1):c.4014T>C (p.Asp1338=)
|
rs778204458
|
|
NM_201253.3(CRB1):c.4029C>T (p.Asp1343=)
|
rs780087216
|
|
NM_201253.3(CRB1):c.4038C>T (p.Thr1346=)
|
rs1667257557
|
|
NM_201253.3(CRB1):c.4047C>A (p.Gly1349=)
|
|
|
NM_201253.3(CRB1):c.4050A>C (p.Ser1350=)
|
rs771682304
|
|
NM_201253.3(CRB1):c.4053G>A (p.Val1351=)
|
rs375396992
|
|
NM_201253.3(CRB1):c.4056T>G (p.Thr1352=)
|
rs574285705
|
|
NM_201253.3(CRB1):c.4068A>G (p.Leu1356=)
|
rs2125573927
|
|
NM_201253.3(CRB1):c.4077C>T (p.Leu1359=)
|
|
|
NM_201253.3(CRB1):c.4086C>T (p.Ala1362=)
|
rs2125573975
|
|
NM_201253.3(CRB1):c.408C>T (p.Cys136=)
|
|
|
NM_201253.3(CRB1):c.4101T>C (p.Val1367=)
|
|
|
NM_201253.3(CRB1):c.4107C>T (p.Thr1369=)
|
rs1571645424
|
|
NM_201253.3(CRB1):c.4110C>T (p.Ser1370=)
|
rs2125574047
|
|
NM_201253.3(CRB1):c.4117A>C (p.Arg1373=)
|
rs2125574055
|
|
NM_201253.3(CRB1):c.4119G>A (p.Arg1373=)
|
|
|
NM_201253.3(CRB1):c.4125T>G (p.Thr1375=)
|
|
|
NM_201253.3(CRB1):c.4131A>G (p.Gly1377=)
|
|
|
NM_201253.3(CRB1):c.4137C>T (p.Tyr1379=)
|
rs1206810310
|
|
NM_201253.3(CRB1):c.4140C>T (p.Ser1380=)
|
|
|
NM_201253.3(CRB1):c.414T>C (p.Ala138=)
|
rs1658677371
|
|
NM_201253.3(CRB1):c.4161G>A (p.Glu1387=)
|
|
|
NM_201253.3(CRB1):c.4164C>T (p.Gly1388=)
|
|
|
NM_201253.3(CRB1):c.4167C>A (p.Ser1389=)
|
|
|
NM_201253.3(CRB1):c.4167C>T (p.Ser1389=)
|
|
|
NM_201253.3(CRB1):c.4197C>T (p.Pro1399=)
|
rs2125574291
|
|
NM_201253.3(CRB1):c.4209G>A (p.Glu1403=)
|
rs1490587812
|
|
NM_201253.3(CRB1):c.423T>A (p.Ala141=)
|
|
|
NM_201253.3(CRB1):c.42C>G (p.Leu14=)
|
rs2125193970
|
|
NM_201253.3(CRB1):c.438G>A (p.Glu146=)
|
|
|
NM_201253.3(CRB1):c.450T>C (p.Asp150=)
|
rs756735925
|
|
NM_201253.3(CRB1):c.465C>T (p.Ser155=)
|
|
|
NM_201253.3(CRB1):c.477T>C (p.Asn159=)
|
|
|
NM_201253.3(CRB1):c.483C>G (p.Ala161=)
|
rs370907719
|
|
NM_201253.3(CRB1):c.483C>T (p.Ala161=)
|
rs370907719
|
|
NM_201253.3(CRB1):c.486G>A (p.Val162=)
|
rs2125304480
|
|
NM_201253.3(CRB1):c.495T>C (p.Asp165=)
|
|
|
NM_201253.3(CRB1):c.504T>C (p.Asp168=)
|
rs765280046
|
|
NM_201253.3(CRB1):c.510C>T (p.Tyr170=)
|
rs1658687526
|
|
NM_201253.3(CRB1):c.519C>T (p.Phe173=)
|
rs540720099
|
|
NM_201253.3(CRB1):c.522T>C (p.Cys174=)
|
rs1658688864
|
|
NM_201253.3(CRB1):c.543A>G (p.Arg181=)
|
rs1405034397
|
|
NM_201253.3(CRB1):c.552C>T (p.Asp184=)
|
rs2125304660
|
|
NM_201253.3(CRB1):c.579T>C (p.Asp193=)
|
rs1382054822
|
|
NM_201253.3(CRB1):c.582C>G (p.Pro194=)
|
|
|
NM_201253.3(CRB1):c.609T>C (p.Asn203=)
|
rs1558057563
|
|
NM_201253.3(CRB1):c.60C>T (p.Ile20=)
|
|
|
NM_201253.3(CRB1):c.624T>C (p.Tyr208=)
|
rs1658697788
|
|
NM_201253.3(CRB1):c.636T>C (p.Cys212=)
|
rs2125304873
|
|
NM_201253.3(CRB1):c.652+12C>A
|
|
|
NM_201253.3(CRB1):c.652+13A>G
|
rs2125304913
|
|
NM_201253.3(CRB1):c.652+13AT[3]
|
|
|
NM_201253.3(CRB1):c.652+14T>A
|
|
|
NM_201253.3(CRB1):c.652+14T>C
|
|
|
NM_201253.3(CRB1):c.652+17C>T
|
|
|
NM_201253.3(CRB1):c.652+18_652+19del
|
|
|
NM_201253.3(CRB1):c.652+20A>G
|
|
|
NM_201253.3(CRB1):c.653-10T>G
|
rs1306679553
|
|
NM_201253.3(CRB1):c.653-11T>G
|
|
|
NM_201253.3(CRB1):c.653-5A>G
|
|
|
NM_201253.3(CRB1):c.653-7_653-6del
|
rs1659639143
|
|
NM_201253.3(CRB1):c.653-9T>G
|
rs1361143166
|
|
NM_201253.3(CRB1):c.663T>C (p.Cys221=)
|
|
|
NM_201253.3(CRB1):c.667T>C (p.Leu223=)
|
|
|
NM_201253.3(CRB1):c.66A>T (p.Ile22=)
|
rs2125194017
|
|
NM_201253.3(CRB1):c.675T>C (p.Ile225=)
|
|
|
NM_201253.3(CRB1):c.699T>C (p.Cys233=)
|
rs1659643864
|
|
NM_201253.3(CRB1):c.70+10_70+14dup
|
rs2125194046
|
|
NM_201253.3(CRB1):c.70+10dup
|
|
|
NM_201253.3(CRB1):c.70+13C>G
|
|
|
NM_201253.3(CRB1):c.70+17T>G
|
|
|
NM_201253.3(CRB1):c.70+18T>C
|
|
|
NM_201253.3(CRB1):c.70+18T>G
|
|
|
NM_201253.3(CRB1):c.70+20G>A
|
|
|
NM_201253.3(CRB1):c.71-10T>A
|
rs2125303442
|
|
NM_201253.3(CRB1):c.71-12A>G
|
rs12042179
|
|
NM_201253.3(CRB1):c.71-13T>A
|
|
|
NM_201253.3(CRB1):c.71-17T>A
|
|
|
NM_201253.3(CRB1):c.71-18C>T
|
|
|
NM_201253.3(CRB1):c.71-20T>C
|
|
|
NM_201253.3(CRB1):c.71-5del
|
|
|
NM_201253.3(CRB1):c.71-6T>C
|
rs918243631
|
|
NM_201253.3(CRB1):c.71-6T>G
|
|
|
NM_201253.3(CRB1):c.71-7C>T
|
rs1158168007
|
|
NM_201253.3(CRB1):c.71-9T>C
|
rs571591819
|
|
NM_201253.3(CRB1):c.747C>T (p.Asp249=)
|
rs1449307743
|
|
NM_201253.3(CRB1):c.753C>T (p.Ala251=)
|
rs2125328418
|
|
NM_201253.3(CRB1):c.768G>A (p.Gly256=)
|
|
|
NM_201253.3(CRB1):c.786C>T (p.Asn262=)
|
|
|
NM_201253.3(CRB1):c.78T>C (p.Phe26=)
|
rs2125303508
|
|
NM_201253.3(CRB1):c.795G>A (p.Glu265=)
|
rs1659650734
|
|
NM_201253.3(CRB1):c.813T>C (p.Cys271=)
|
rs564571183
|
|
NM_201253.3(CRB1):c.819T>C (p.His273=)
|
rs2125328566
|
|
NM_201253.3(CRB1):c.828G>T (p.Leu276=)
|
|
|
NM_201253.3(CRB1):c.834G>C (p.Val278=)
|
rs780152729
|
|
NM_201253.3(CRB1):c.848+12C>T
|
|
|
NM_201253.3(CRB1):c.848+13T>C
|
|
|
NM_201253.3(CRB1):c.848+16C>T
|
|
|
NM_201253.3(CRB1):c.848+17G>A
|
|
|
NM_201253.3(CRB1):c.848+17G>T
|
|
|
NM_201253.3(CRB1):c.848+20G>T
|
|
|
NM_201253.3(CRB1):c.849-4C>T
|
|
|
NM_201253.3(CRB1):c.849-8C>T
|
|
|
NM_201253.3(CRB1):c.849-9A>G
|
|
|
NM_201253.3(CRB1):c.84T>C (p.Asn28=)
|
|
|
NM_201253.3(CRB1):c.852T>C (p.Tyr284=)
|
rs1046799192
|
|
NM_201253.3(CRB1):c.870T>C (p.Gly290=)
|
|
|
NM_201253.3(CRB1):c.873T>C (p.Ser291=)
|
|
|
NM_201253.3(CRB1):c.891C>T (p.His297=)
|
|
|
NM_201253.3(CRB1):c.894T>C (p.Cys298=)
|
rs2125333261
|
|
NM_201253.3(CRB1):c.901T>C (p.Leu301=)
|
rs1456191997
|
|
NM_201253.3(CRB1):c.909T>C (p.Pro303=)
|
|
|
NM_201253.3(CRB1):c.942T>A (p.Ala314=)
|
rs2125333360
|
|
NM_201253.3(CRB1):c.948T>C (p.Cys316=)
|
|
|
NM_201253.3(CRB1):c.954C>T (p.Asp318=)
|
|
|
NM_201253.3(CRB1):c.963C>T (p.Asp321=)
|
rs1659843499
|
|
NM_201253.3(CRB1):c.969C>T (p.Tyr323=)
|
rs1571878231
|
|
NM_201253.3(CRB1):c.96C>G (p.Thr32=)
|
|
|
NM_201253.3(CRB1):c.972T>G (p.Thr324=)
|
|
|
NM_201253.3(CRB1):c.981C>T (p.Cys327=)
|
|
|
NM_201253.3(CRB1):c.988+17C>T
|
|
|
NM_201253.3(CRB1):c.988+7G>A
|
|
|
NM_201253.3(CRB1):c.989-12T>G
|
|
|
NM_201253.3(CRB1):c.989-16A>T
|
|
|
NM_201253.3(CRB1):c.989-20T>C
|
|
|
NM_201253.3(CRB1):c.989-7C>T
|
|
|
NM_201253.3(CRB1):c.989-8T>A
|
rs942052508
|
|
NM_201253.3(CRB1):c.989-9A>G
|
rs141834896
|
|
NM_201253.3(CRB1):c.99G>A (p.Arg33=)
|
|
|
NM_201253.3(CRB1):c.9T>C (p.Leu3=)
|
|
|
NM_205861.3(DHDDS):c.108C>T (p.Asn36=)
|
|
|
NM_205861.3(DHDDS):c.111T>G (p.Arg37=)
|
rs2075181248
|
|
NM_205861.3(DHDDS):c.117T>C (p.Tyr39=)
|
|
|
NM_205861.3(DHDDS):c.120C>G (p.Ala40=)
|
|
|
NM_205861.3(DHDDS):c.126G>A (p.Lys42=)
|
rs1044233189
|
|
NM_205861.3(DHDDS):c.12C>T (p.Ile4=)
|
|
|
NM_205861.3(DHDDS):c.135G>T (p.Val45=)
|
|
|
NM_205861.3(DHDDS):c.138G>A (p.Glu46=)
|
rs768883929
|
|
NM_205861.3(DHDDS):c.139C>A (p.Arg47=)
|
|
|
NM_205861.3(DHDDS):c.141G>A (p.Arg47=)
|
|
|
NM_205861.3(DHDDS):c.144G>A (p.Gln48=)
|
|
|
NM_205861.3(DHDDS):c.153C>T (p.His51=)
|
|
|
NM_205861.3(DHDDS):c.168C>T (p.Asn56=)
|
|
|
NM_205861.3(DHDDS):c.171G>A (p.Lys57=)
|
|
|
NM_205861.3(DHDDS):c.177T>C (p.Ala59=)
|
|
|
NM_205861.3(DHDDS):c.180+13G>A
|
|
|
NM_205861.3(DHDDS):c.180+15C>T
|
|
|
NM_205861.3(DHDDS):c.180+18A>G
|
|
|
NM_205861.3(DHDDS):c.180+19G>A
|
|
|
NM_205861.3(DHDDS):c.180+6dup
|
|
|
NM_205861.3(DHDDS):c.180+9G>A
|
|
|
NM_205861.3(DHDDS):c.180+9G>T
|
rs1472332898
|
|
NM_205861.3(DHDDS):c.181-17G>A
|
|
|
NM_205861.3(DHDDS):c.181-5C>T
|
rs2124403419
|
|
NM_205861.3(DHDDS):c.181-7C>G
|
rs2075230604
|
|
NM_205861.3(DHDDS):c.181-7C>T
|
rs2075230604
|
|
NM_205861.3(DHDDS):c.181-8C>T
|
|
|
NM_205861.3(DHDDS):c.186G>A (p.Leu62=)
|
rs2124403465
|
|
NM_205861.3(DHDDS):c.186G>T (p.Leu62=)
|
rs2124403465
|
|
NM_205861.3(DHDDS):c.189G>C (p.Arg63=)
|
|
|
NM_205861.3(DHDDS):c.202C>T (p.Leu68=)
|
rs2124403620
|
|
NM_205861.3(DHDDS):c.207C>T (p.Gly69=)
|
|
|
NM_205861.3(DHDDS):c.210C>T (p.Ile70=)
|
rs1343687682
|
|
NM_205861.3(DHDDS):c.261G>A (p.Lys87=)
|
|
|
NM_205861.3(DHDDS):c.264T>C (p.Ser88=)
|
rs2075231676
|
|
NM_205861.3(DHDDS):c.294G>A (p.Arg98=)
|
rs2075232193
|
|
NM_205861.3(DHDDS):c.294G>T (p.Arg98=)
|
rs2075232193
|
|
NM_205861.3(DHDDS):c.309C>T (p.Arg103=)
|
rs545547217
|
|
NM_205861.3(DHDDS):c.310T>C (p.Leu104=)
|
|
|
NM_205861.3(DHDDS):c.323+10T>C
|
rs2124404634
|
|
NM_205861.3(DHDDS):c.323+11A>C
|
|
|
NM_205861.3(DHDDS):c.323+16A>T
|
|
|
NM_205861.3(DHDDS):c.323+17G>A
|
|
|
NM_205861.3(DHDDS):c.323+7T>G
|
|
|
NM_205861.3(DHDDS):c.323+9C>G
|
|
|
NM_205861.3(DHDDS):c.324-18C>T
|
|
|
NM_205861.3(DHDDS):c.324-20T>C
|
|
|
NM_205861.3(DHDDS):c.324-6G>C
|
|
|
NM_205861.3(DHDDS):c.324-7T>C
|
rs1421223894
|
|
NM_205861.3(DHDDS):c.324-8C>T
|
|
|
NM_205861.3(DHDDS):c.324-9C>A
|
|
|
NM_205861.3(DHDDS):c.324-9C>T
|
|
|
NM_205861.3(DHDDS):c.336G>A (p.Gln112=)
|
|
|
NM_205861.3(DHDDS):c.345G>A (p.Gly115=)
|
|
|
NM_205861.3(DHDDS):c.348G>A (p.Val116=)
|
rs2124425536
|
|
NM_205861.3(DHDDS):c.357G>A (p.Arg119=)
|
|
|
NM_205861.3(DHDDS):c.357G>C (p.Arg119=)
|
rs1440891060
|
|
NM_205861.3(DHDDS):c.363G>A (p.Leu121=)
|
|
|
NM_205861.3(DHDDS):c.363G>C (p.Leu121=)
|
rs1570342748
|
|
NM_205861.3(DHDDS):c.384C>T (p.Pro128=)
|
|
|
NM_205861.3(DHDDS):c.387G>A (p.Leu129=)
|
|
|
NM_205861.3(DHDDS):c.408A>G (p.Ala136=)
|
|
|
NM_205861.3(DHDDS):c.40C>A (p.Arg14=)
|
|
|
NM_205861.3(DHDDS):c.423C>A (p.Ala141=)
|
|
|
NM_205861.3(DHDDS):c.423C>T (p.Ala141=)
|
rs1290238393
|
|
NM_205861.3(DHDDS):c.429G>A (p.Lys143=)
|
rs2124426337
|
|
NM_205861.3(DHDDS):c.42G>A (p.Arg14=)
|
|
|
NM_205861.3(DHDDS):c.42G>C (p.Arg14=)
|
rs2124329616
|
|
NM_205861.3(DHDDS):c.435C>T (p.Tyr145=)
|
|
|
NM_205861.3(DHDDS):c.438C>T (p.Asn146=)
|
rs2124426386
|
|
NM_205861.3(DHDDS):c.440+10C>T
|
|
|
NM_205861.3(DHDDS):c.440+12_440+13del
|
|
|
NM_205861.3(DHDDS):c.440+14T>G
|
rs1283007450
|
|
NM_205861.3(DHDDS):c.440+20T>C
|
rs2124426555
|
|
NM_205861.3(DHDDS):c.440+7T>A
|
|
|
NM_205861.3(DHDDS):c.440+7T>G
|
|
|
NM_205861.3(DHDDS):c.441-12_441-10del
|
|
|
NM_205861.3(DHDDS):c.441-14T>G
|
|
|
NM_205861.3(DHDDS):c.441-16_441-15del
|
|
|
NM_205861.3(DHDDS):c.441-18C>A
|
rs2124432827
|
|
NM_205861.3(DHDDS):c.441-5C>T
|
rs1325644117
|
|
NM_205861.3(DHDDS):c.450G>A (p.Leu150=)
|
rs2124433011
|
|
NM_205861.3(DHDDS):c.450G>T (p.Leu150=)
|
|
|
NM_205861.3(DHDDS):c.459T>C (p.Cys153=)
|
rs1262736639
|
|
NM_205861.3(DHDDS):c.486C>T (p.Ile162=)
|
|
|
NM_205861.3(DHDDS):c.492T>C (p.Asn164=)
|
|
|
NM_205861.3(DHDDS):c.498G>A (p.Val166=)
|
rs2124433383
|
|
NM_205861.3(DHDDS):c.501A>G (p.Arg167=)
|
|
|
NM_205861.3(DHDDS):c.510C>T (p.Ala170=)
|
|
|
NM_205861.3(DHDDS):c.516G>C (p.Gly172=)
|
rs776512735
|
|
NM_205861.3(DHDDS):c.516G>T (p.Gly172=)
|
|
|
NM_205861.3(DHDDS):c.51C>T (p.Ala17=)
|
|
|
NM_205861.3(DHDDS):c.531G>T (p.Leu177=)
|
|
|
NM_205861.3(DHDDS):c.532T>C (p.Leu178=)
|
|
|
NM_205861.3(DHDDS):c.542+11T>G
|
rs1268905536
|
|
NM_205861.3(DHDDS):c.542+18G>A
|
|
|
NM_205861.3(DHDDS):c.542+7C>A
|
rs772779004
|
|
NM_205861.3(DHDDS):c.542+8G>T
|
rs149948788
|
|
NM_205861.3(DHDDS):c.543-10C>G
|
|
|
NM_205861.3(DHDDS):c.543-11G>C
|
|
|
NM_205861.3(DHDDS):c.543-11G>T
|
|
|
NM_205861.3(DHDDS):c.543-5C>G
|
|
|
NM_205861.3(DHDDS):c.543-7A>G
|
rs2124489161
|
|
NM_205861.3(DHDDS):c.543-8C>G
|
rs2124489154
|
|
NM_205861.3(DHDDS):c.549C>T (p.Ile183=)
|
rs2124489198
|
|
NM_205861.3(DHDDS):c.561G>T (p.Leu187=)
|
rs1264707466
|
|
NM_205861.3(DHDDS):c.570G>A (p.Lys190=)
|
rs1570357051
|
|
NM_205861.3(DHDDS):c.576C>G (p.Leu192=)
|
|
|
NM_205861.3(DHDDS):c.588C>A (p.Arg196=)
|
rs745513492
|
|
NM_205861.3(DHDDS):c.591T>G (p.Ser197=)
|
rs794727876
|
|
NM_205861.3(DHDDS):c.600T>C (p.Pro200=)
|
|
|
NM_205861.3(DHDDS):c.603C>T (p.Asp201=)
|
rs775940416
|
|
NM_205861.3(DHDDS):c.615G>T (p.Arg205=)
|
|
|
NM_205861.3(DHDDS):c.621T>C (p.Ser207=)
|
rs1280728029
|
|
NM_205861.3(DHDDS):c.63+11del
|
rs2124329873
|
|
NM_205861.3(DHDDS):c.63+18G>A
|
|
|
NM_205861.3(DHDDS):c.63+19C>T
|
|
|
NM_205861.3(DHDDS):c.63+9T>C
|
|
|
NM_205861.3(DHDDS):c.64-11C>T
|
|
|
NM_205861.3(DHDDS):c.64-12C>T
|
rs201786378
|
|
NM_205861.3(DHDDS):c.64-19T>C
|
|
|
NM_205861.3(DHDDS):c.64-19T>G
|
|
|
NM_205861.3(DHDDS):c.64-20T>C
|
|
|
NM_205861.3(DHDDS):c.64-6C>T
|
|
|
NM_205861.3(DHDDS):c.64-9A>C
|
rs1252758141
|
|
NM_205861.3(DHDDS):c.646T>C (p.Leu216=)
|
rs2124489873
|
|
NM_205861.3(DHDDS):c.649C>T (p.Leu217=)
|
|
|
NM_205861.3(DHDDS):c.657+11T>G
|
|
|
NM_205861.3(DHDDS):c.657+17T>C
|
|
|
NM_205861.3(DHDDS):c.657+8A>G
|
|
|
NM_205861.3(DHDDS):c.658-11A>C
|
|
|
NM_205861.3(DHDDS):c.658-11A>T
|
|
|
NM_205861.3(DHDDS):c.658-11_658-9dup
|
rs2124501126
|
|
NM_205861.3(DHDDS):c.658-12T>C
|
|
|
NM_205861.3(DHDDS):c.658-12T>G
|
|
|
NM_205861.3(DHDDS):c.658-17C>T
|
|
|
NM_205861.3(DHDDS):c.658-19T>C
|
|
|
NM_205861.3(DHDDS):c.658-20C>G
|
|
|
NM_205861.3(DHDDS):c.658-5C>G
|
|
|
NM_205861.3(DHDDS):c.658-5C>T
|
|
|
NM_205861.3(DHDDS):c.658-8T>C
|
rs1358796301
|
|
NM_205861.3(DHDDS):c.658-9C>T
|
rs1291000354
|
|
NM_205861.3(DHDDS):c.660C>A (p.Thr220=)
|
|
|
NM_205861.3(DHDDS):c.684A>G (p.Gln228=)
|
rs766651316
|
|
NM_205861.3(DHDDS):c.687C>T (p.Pro229=)
|
rs1166377469
|
|
NM_205861.3(DHDDS):c.691C>T (p.Leu231=)
|
|
|
NM_205861.3(DHDDS):c.699A>G (p.Pro233=)
|
|
|
NM_205861.3(DHDDS):c.6A>G (p.Ser2=)
|
rs2124329360
|
|
NM_205861.3(DHDDS):c.702G>A (p.Glu234=)
|
rs2124501446
|
|
NM_205861.3(DHDDS):c.705T>C (p.Tyr235=)
|
|
|
NM_205861.3(DHDDS):c.711T>C (p.Phe237=)
|
rs1258300851
|
|
NM_205861.3(DHDDS):c.720C>T (p.Leu240=)
|
rs1570359391
|
|
NM_205861.3(DHDDS):c.732C>T (p.Ile244=)
|
|
|
NM_205861.3(DHDDS):c.733C>T (p.Leu245=)
|
|
|
NM_205861.3(DHDDS):c.750C>T (p.Asn250=)
|
rs373118655
|
|
NM_205861.3(DHDDS):c.765+19C>T
|
|
|
NM_205861.3(DHDDS):c.765+7A>G
|
|
|
NM_205861.3(DHDDS):c.765+7A>T
|
|
|
NM_205861.3(DHDDS):c.765+8A>G
|
|
|
NM_205861.3(DHDDS):c.765+9G>C
|
|
|
NM_205861.3(DHDDS):c.766-10T>C
|
rs1275353596
|
|
NM_205861.3(DHDDS):c.766-10T>G
|
rs1275353596
|
|
NM_205861.3(DHDDS):c.766-12T>A
|
|
|
NM_205861.3(DHDDS):c.766-18C>T
|
rs2124551912
|
|
NM_205861.3(DHDDS):c.766-20T>C
|
|
|
NM_205861.3(DHDDS):c.766-6dup
|
rs2124552025
|
|
NM_205861.3(DHDDS):c.766-7C>G
|
|
|
NM_205861.3(DHDDS):c.766-8T>C
|
|
|
NM_205861.3(DHDDS):c.783T>C (p.Tyr261=)
|
|
|
NM_205861.3(DHDDS):c.789G>A (p.Glu263=)
|
rs2124552202
|
|
NM_205861.3(DHDDS):c.801G>A (p.Arg267=)
|
|
|
NM_205861.3(DHDDS):c.808C>T (p.Leu270=)
|
rs2124552293
|
|
NM_205861.3(DHDDS):c.813G>A (p.Glu271=)
|
rs774310289
|
|
NM_205861.3(DHDDS):c.816G>A (p.Arg272=)
|
|
|
NM_205861.3(DHDDS):c.81A>G (p.Lys27=)
|
rs759795707
|
|
NM_205861.3(DHDDS):c.843G>A (p.Leu281=)
|
|
|
NM_205861.3(DHDDS):c.846G>C (p.Leu282=)
|
|
|
NM_205861.3(DHDDS):c.846G>T (p.Leu282=)
|
rs2075522251
|
|
NM_205861.3(DHDDS):c.847C>A (p.Arg283=)
|
rs1327145984
|
|
NM_205861.3(DHDDS):c.855G>A (p.Gly285=)
|
rs928446379
|
|
NM_205861.3(DHDDS):c.855G>T (p.Gly285=)
|
rs928446379
|
|
NM_205861.3(DHDDS):c.864C>T (p.Ala288=)
|
|
|
NM_205861.3(DHDDS):c.873C>T (p.Asp291=)
|
rs759006198
|
|
NM_205861.3(DHDDS):c.876C>G (p.Ala292=)
|
|
|
NM_205861.3(DHDDS):c.879G>A (p.Gln293=)
|
rs1570370915
|
|
NM_205861.3(DHDDS):c.886A>C (p.Arg296=)
|
rs2124552882
|
|
NM_205861.3(DHDDS):c.894C>A (p.Arg298=)
|
|
|
NM_205861.3(DHDDS):c.909G>C (p.Ser303=)
|
|
|
NM_205861.3(DHDDS):c.909G>T (p.Ser303=)
|
rs376517028
|
|
NM_205861.3(DHDDS):c.915A>G (p.Arg305=)
|
|
|
NM_205861.3(DHDDS):c.916C>A (p.Arg306=)
|
rs139109356
|
|
NM_205861.3(DHDDS):c.921A>G (p.Glu307=)
|
|
|
NM_205861.3(DHDDS):c.933A>G (p.Gln311=)
|
|
|
NM_205861.3(DHDDS):c.939C>T (p.Phe313=)
|
|
|
NM_205861.3(DHDDS):c.93C>T (p.Phe31=)
|
rs1281509733
|
|
NM_205861.3(DHDDS):c.940C>T (p.Leu314=)
|
rs1553124038
|
|
NM_205861.3(DHDDS):c.951G>A (p.Leu317=)
|
|
|
NM_205861.3(DHDDS):c.957C>G (p.Leu319=)
|
rs763737754
|
|
NM_205861.3(DHDDS):c.973C>T (p.Leu325=)
|
|
|