NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_000019.4(ACAT1):c.941-14C>T
|
rs12801620
|
0.00658
|
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)
|
rs143097446
|
0.00471
|
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn)
|
rs144053672
|
0.00316
|
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser)
|
rs115328026
|
0.00266
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys)
|
rs148651921
|
0.00231
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
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_001258392.3(CLPB):c.1796G>A (p.Arg599His)
|
rs149463053
|
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_025136.4(OPA3):c.478C>T (p.Arg160Cys)
|
rs137978109
|
0.00135
|
NM_001370658.1(BTD):c.339G>A (p.Pro113=)
|
rs181743799
|
0.00133
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
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_014384.3(ACAD8):c.1162G>A (p.Val388Met)
|
rs139792723
|
0.00111
|
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser)
|
rs116118397
|
0.00110
|
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_015702.3(MMADHC):c.707C>T (p.Pro236Leu)
|
rs143753228
|
0.00098
|
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)
|
rs150352833
|
0.00096
|
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala)
|
rs146099754
|
0.00096
|
NM_005050.4(ABCD4):c.518A>G (p.Tyr173Cys)
|
rs188205145
|
0.00096
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
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_014384.3(ACAD8):c.211-20C>T
|
rs200508056
|
0.00089
|
NM_000282.4(PCCA):c.2040+11dup
|
rs779884567
|
0.00087
|
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_002225.5(IVD):c.228C>T (p.Asn76=)
|
rs140098686
|
0.00078
|
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_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
NM_172250.3(MMAA):c.966A>G (p.Pro322=)
|
rs150692463
|
0.00073
|
NM_172250.3(MMAA):c.879A>G (p.Gly293=)
|
rs146352309
|
0.00072
|
NM_000282.4(PCCA):c.1896A>G (p.Thr632=)
|
rs61760965
|
0.00071
|
NM_001698.3(AUH):c.140C>T (p.Pro47Leu)
|
rs200564356
|
0.00068
|
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val)
|
rs144182725
|
0.00068
|
NM_001243279.3(ACSF3):c.823-4G>C
|
rs558325262
|
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
|
NM_000191.3(HMGCL):c.663C>T (p.Val221=)
|
rs143884026
|
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_015702.3(MMADHC):c.741A>G (p.Glu247=)
|
rs146820547
|
0.00062
|
NM_000282.4(PCCA):c.870C>T (p.Cys290=)
|
rs141174380
|
0.00060
|
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=)
|
rs145155300
|
0.00059
|
NM_001609.4(ACADSB):c.1228+8G>C
|
rs202191462
|
0.00058
|
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
|
rs148616219
|
0.00058
|
NM_001243279.3(ACSF3):c.1614-10G>C
|
rs370941606
|
0.00056
|
NM_001370658.1(BTD):c.252T>C (p.Asp84=)
|
rs138545268
|
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_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
NM_014384.3(ACAD8):c.110-17T>C
|
rs372435194
|
0.00054
|
NM_001243279.3(ACSF3):c.978-7C>T
|
rs190927208
|
0.00051
|
NM_000532.5(PCCB):c.603T>C (p.Ala201=)
|
rs141340198
|
0.00050
|
NM_001370658.1(BTD):c.825C>T (p.Asn275=)
|
rs145379955
|
0.00050
|
NM_001258392.3(CLPB):c.1560+11T>C
|
rs113954132
|
0.00049
|
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
|
rs138937107
|
0.00049
|
NM_001258392.3(CLPB):c.723C>T (p.His241=)
|
rs368930954
|
0.00048
|
NM_052845.4(MMAB):c.620C>T (p.Ala207Val)
|
rs61739388
|
0.00048
|
NM_005050.4(ABCD4):c.1507-18C>T
|
rs368891249
|
0.00047
|
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_015506.3(MMACHC):c.277-4C>G
|
rs199889403
|
0.00045
|
NM_000019.4(ACAT1):c.1164-15C>T
|
rs185613183
|
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_145261.4(DNAJC19):c.300A>G (p.Ala100=)
|
rs373886730
|
0.00044
|
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_001370658.1(BTD):c.411C>T (p.Arg137=)
|
rs141240202
|
0.00041
|
NM_005050.4(ABCD4):c.1118+9C>T
|
rs370581068
|
0.00041
|
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
|
rs144907014
|
0.00040
|
NM_001258392.3(CLPB):c.159G>A (p.Gly53=)
|
rs146260335
|
0.00040
|
NM_032861.4(SERAC1):c.1308+7G>A
|
rs201873667
|
0.00040
|
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_005050.4(ABCD4):c.141G>C (p.Leu47Phe)
|
rs147446660
|
0.00038
|
NM_005050.4(ABCD4):c.1710G>T (p.Gly570=)
|
rs138862492
|
0.00038
|
NM_015506.3(MMACHC):c.691T>C (p.Leu231=)
|
rs373198842
|
0.00038
|
NM_001258392.3(CLPB):c.776-10_776-8del
|
rs572621494
|
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_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_025136.4(OPA3):c.143-7C>T
|
rs375551151
|
0.00036
|
NM_000282.4(PCCA):c.2037C>T (p.Asp679=)
|
rs146870931
|
0.00035
|
NM_172250.3(MMAA):c.57A>G (p.Ala19=)
|
rs143211378
|
0.00035
|
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=)
|
rs146779456
|
0.00034
|
NM_001609.4(ACADSB):c.990+11A>T
|
rs376944892
|
0.00034
|
NM_005050.4(ABCD4):c.1498G>A (p.Ala500Thr)
|
rs150594251
|
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_022132.5(MCCC2):c.738+9A>G
|
rs776559643
|
0.00033
|
NM_001698.3(AUH):c.807G>A (p.Arg269=)
|
rs145208407
|
0.00032
|
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)
|
rs199953428
|
0.00032
|
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn)
|
rs147297426
|
0.00032
|
NM_000532.5(PCCB):c.180G>A (p.Lys60=)
|
rs140636870
|
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_005334.3(HCFC1):c.5397C>A (p.Pro1799=)
|
rs201452496
|
0.00031
|
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=)
|
rs138374055
|
0.00031
|
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
|
rs371714495
|
0.00031
|
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_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
NM_000191.3(HMGCL):c.604C>T (p.Leu202=)
|
rs146602259
|
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_001698.3(AUH):c.936T>C (p.Tyr312=)
|
rs139628387
|
0.00029
|
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=)
|
rs782660181
|
0.00028
|
NM_001258392.3(CLPB):c.693C>T (p.Arg231=)
|
rs149932193
|
0.00027
|
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=)
|
rs377583331
|
0.00027
|
NM_032861.4(SERAC1):c.1828+10C>G
|
rs374374755
|
0.00027
|
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_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_002225.5(IVD):c.916C>G (p.Leu306Val)
|
rs144418134
|
0.00026
|
NM_001243279.3(ACSF3):c.978-6G>A
|
rs377217672
|
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_014384.3(ACAD8):c.380+17G>T
|
rs201079276
|
0.00025
|
NM_015506.3(MMACHC):c.126G>A (p.Pro42=)
|
rs201112314
|
0.00025
|
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_001258392.3(CLPB):c.2024A>G (p.Asn675Ser)
|
rs767062135
|
0.00023
|
NM_001370658.1(BTD):c.430A>C (p.Arg144=)
|
rs556096072
|
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_000532.5(PCCB):c.544-5G>C
|
rs372351800
|
0.00022
|
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn)
|
rs149822970
|
0.00022
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
0.00022
|
NM_000532.5(PCCB):c.303+8T>A
|
rs199769617
|
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_000019.4(ACAT1):c.979A>G (p.Ile327Val)
|
rs150038447
|
0.00020
|
NM_000282.4(PCCA):c.415-10C>T
|
rs376120578
|
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_005334.3(HCFC1):c.4942+8C>T
|
rs1013019333
|
0.00020
|
NM_000019.4(ACAT1):c.113C>T (p.Thr38Ile)
|
rs142869776
|
0.00019
|
NM_000116.5(TAFAZZIN):c.584-7del
|
rs782192927
|
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_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_001698.3(AUH):c.262+14G>A
|
rs200386272
|
0.00019
|
NM_001698.3(AUH):c.330+13A>T
|
rs374741033
|
0.00019
|
NM_005050.4(ABCD4):c.1680C>T (p.Ser560=)
|
rs138753274
|
0.00019
|
NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg)
|
rs201807738
|
0.00019
|
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_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_000282.4(PCCA):c.328G>C (p.Val110Leu)
|
rs150788587
|
0.00017
|
NM_001609.4(ACADSB):c.795C>T (p.Phe265=)
|
rs150619709
|
0.00017
|
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His)
|
rs201578135
|
0.00017
|
NM_000191.3(HMGCL):c.145-8C>T
|
rs369286537
|
0.00016
|
NM_000532.5(PCCB):c.1399-19T>C
|
rs368309360
|
0.00016
|
NM_001017989.3(OPA3):c.416A>T (p.Gln139Leu)
|
rs201888844
|
0.00016
|
NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn)
|
rs142092069
|
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_014384.3(ACAD8):c.939+11C>T
|
rs372904463
|
0.00016
|
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His)
|
rs185334169
|
0.00016
|
NM_025136.4(OPA3):c.33G>T (p.Leu11=)
|
rs148805518
|
0.00016
|
NM_145261.4(DNAJC19):c.182G>A (p.Arg61Gln)
|
rs376891597
|
0.00016
|
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=)
|
rs760794308
|
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_005334.3(HCFC1):c.2289C>T (p.Pro763=)
|
rs200081632
|
0.00015
|
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
|
rs143642515
|
0.00015
|
NM_000282.4(PCCA):c.231+16G>A
|
rs562491059
|
0.00014
|
NM_000282.4(PCCA):c.914+10C>G
|
rs774298513
|
0.00014
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
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_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_002225.5(IVD):c.879-5G>A
|
rs750569823
|
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_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_145261.4(DNAJC19):c.3+16C>T
|
rs367841424
|
0.00014
|
NM_172250.3(MMAA):c.729C>T (p.Thr243=)
|
rs138111772
|
0.00014
|
NM_000282.4(PCCA):c.862A>C (p.Arg288=)
|
rs121964957
|
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_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_015506.3(MMACHC):c.799C>T (p.Arg267Trp)
|
rs34258482
|
0.00013
|
NM_000019.4(ACAT1):c.1164-14T>C
|
rs111849528
|
0.00012
|
NM_000282.4(PCCA):c.300+20G>T
|
rs371217257
|
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_005334.3(HCFC1):c.3690G>A (p.Ala1230=)
|
rs782484757
|
0.00012
|
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=)
|
rs782566624
|
0.00012
|
NM_014384.3(ACAD8):c.178A>G (p.Met60Val)
|
rs374985215
|
0.00012
|
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln)
|
rs145846295
|
0.00012
|
NM_000532.5(PCCB):c.544-20T>C
|
rs370010917
|
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_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_005050.4(ABCD4):c.555C>T (p.Leu185=)
|
rs188108983
|
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_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_018368.4(LMBRD1):c.1189-15C>G
|
rs774156278
|
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_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_145261.4(DNAJC19):c.129+15A>C
|
rs201697391
|
0.00011
|
NM_172250.3(MMAA):c.440-17A>T
|
rs373100355
|
0.00011
|
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)
|
rs753816946
|
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_000532.5(PCCB):c.1154A>G (p.Asn385Ser)
|
rs151078515
|
0.00010
|
NM_000532.5(PCCB):c.555G>A (p.Thr185=)
|
rs543691110
|
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_005050.4(ABCD4):c.1056G>A (p.Leu352=)
|
rs542032495
|
0.00010
|
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=)
|
rs368119827
|
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_018368.4(LMBRD1):c.406-6A>C
|
rs373257303
|
0.00010
|
NM_020166.5(MCCC1):c.762-5T>C
|
rs369355125
|
0.00010
|
NM_000019.4(ACAT1):c.22C>T (p.Leu8=)
|
rs775668624
|
0.00009
|
NM_000191.3(HMGCL):c.498-10C>A
|
rs373505626
|
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_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_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_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_002225.5(IVD):c.1139-9T>C
|
rs373295135
|
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_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_018368.4(LMBRD1):c.1023C>T (p.Phe341=)
|
rs765215874
|
0.00009
|
NM_018368.4(LMBRD1):c.405+8T>C
|
rs375415974
|
0.00009
|
NM_020166.5(MCCC1):c.294C>T (p.Ile98=)
|
rs368288499
|
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_172250.3(MMAA):c.440-6C>T
|
rs374784209
|
0.00009
|
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)
|
rs577313004
|
0.00008
|
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=)
|
rs140751478
|
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_000532.5(PCCB):c.561C>T (p.Ser187=)
|
rs145057852
|
0.00008
|
NM_001017989.3(OPA3):c.406T>C (p.Leu136=)
|
rs535476484
|
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_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_014384.3(ACAD8):c.841+9C>T
|
rs777635296
|
0.00008
|
NM_014384.3(ACAD8):c.842-18G>A
|
rs578153873
|
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_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_000019.4(ACAT1):c.239-8T>A
|
rs202030208
|
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_001258392.3(CLPB):c.921C>T (p.Phe307=)
|
rs561993207
|
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_002225.5(IVD):c.903C>T (p.His301=)
|
rs759116078
|
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_014384.3(ACAD8):c.984C>T (p.Ala328=)
|
rs766640729
|
0.00007
|
NM_015702.3(MMADHC):c.513C>G (p.Gly171=)
|
rs373384350
|
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_145261.4(DNAJC19):c.280+2dup
|
rs756616792
|
0.00007
|
NM_172250.3(MMAA):c.733+13T>C
|
rs768662983
|
0.00007
|
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_000116.5(TAFAZZIN):c.567C>T (p.Phe189=)
|
rs141773967
|
0.00006
|
NM_000191.3(HMGCL):c.882G>A (p.Val294=)
|
rs1370242689
|
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_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_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_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_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_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_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_015702.3(MMADHC):c.510T>C (p.Asn170=)
|
rs745423033
|
0.00006
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
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_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_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_052845.4(MMAB):c.150G>A (p.Ser50=)
|
rs754357121
|
0.00006
|
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr)
|
rs777459994
|
0.00006
|
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_000116.5(TAFAZZIN):c.110-6C>T
|
rs782099193
|
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_000282.4(PCCA):c.945G>A (p.Ala315=)
|
rs373115130
|
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_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_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_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_005050.4(ABCD4):c.1495T>C (p.Leu499=)
|
rs561519173
|
0.00005
|
NM_005050.4(ABCD4):c.249A>G (p.Thr83=)
|
rs773214307
|
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_014384.3(ACAD8):c.408C>T (p.Phe136=)
|
rs143408080
|
0.00005
|
NM_018368.4(LMBRD1):c.474-20A>G
|
rs952976480
|
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_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_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_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_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_000191.3(HMGCL):c.145-13C>T
|
rs762224192
|
0.00004
|
NM_000191.3(HMGCL):c.717T>G (p.Gly239=)
|
rs370708710
|
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_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_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_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_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_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_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_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_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_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
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_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_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_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_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)
|
rs141007488
|
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_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)
|
rs149171104
|
0.00003
|
NM_000019.4(ACAT1):c.325T>C (p.Leu109=)
|
rs772625970
|
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_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_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_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_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_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_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_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_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_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_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_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_015702.3(MMADHC):c.537A>G (p.Thr179=)
|
rs377571291
|
0.00002
|
NM_015702.3(MMADHC):c.615C>T (p.Ile205=)
|
rs986210972
|
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_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_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_145261.4(DNAJC19):c.210-17T>C
|
rs750700018
|
0.00002
|
NM_145261.4(DNAJC19):c.90G>A (p.Glu30=)
|
rs367996239
|
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_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_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_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_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_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_001017989.3(OPA3):c.534C>T (p.Ser178=)
|
rs1162879805
|
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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001017989.3(OPA3):c.414G>A (p.Ala138=)
|
rs566450630
|
|
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_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=)
|
|
|
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|
NM_001352514.2(HLCS):c.567G>A (p.Glu189=)
|
rs61732504
|
|
NM_001352514.2(HLCS):c.570G>T (p.Pro190=)
|
|
|
NM_001352514.2(HLCS):c.579A>G (p.Glu193=)
|
rs2146529125
|
|
NM_001352514.2(HLCS):c.582T>G (p.Pro194=)
|
|
|
NM_001352514.2(HLCS):c.585T>A (p.Ser195=)
|
|
|
NM_001352514.2(HLCS):c.597G>A (p.Lys199=)
|
|
|
NM_001352514.2(HLCS):c.600T>C (p.Pro200=)
|
rs2066937541
|
|
NM_001352514.2(HLCS):c.606G>A (p.Gln202=)
|
|
|
NM_001352514.2(HLCS):c.633T>C (p.Asp211=)
|
|
|
NM_001352514.2(HLCS):c.636C>T (p.Asp212=)
|
|
|
NM_001352514.2(HLCS):c.678T>C (p.Ser226=)
|
rs2146528574
|
|
NM_001352514.2(HLCS):c.684T>G (p.Ser228=)
|
rs2146528551
|
|
NM_001352514.2(HLCS):c.687G>C (p.Gly229=)
|
rs2146528539
|
|
NM_001352514.2(HLCS):c.702G>A (p.Gly234=)
|
rs373193883
|
|
NM_001352514.2(HLCS):c.711C>T (p.Asp237=)
|
rs754558925
|
|
NM_001352514.2(HLCS):c.732G>A (p.Glu244=)
|
|
|
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
|
rs765150200
|
|
NM_001352514.2(HLCS):c.741C>T (p.His247=)
|
rs761937078
|
|
NM_001352514.2(HLCS):c.759C>T (p.Cys253=)
|
rs751148714
|
|
NM_001352514.2(HLCS):c.765G>A (p.Glu255=)
|
|
|
NM_001352514.2(HLCS):c.783C>T (p.Asn261=)
|
rs1601805290
|
|
NM_001352514.2(HLCS):c.792T>C (p.Ile264=)
|
rs775055913
|
|
NM_001352514.2(HLCS):c.804G>A (p.Lys268=)
|
rs1228716242
|
|
NM_001352514.2(HLCS):c.810G>T (p.Ala270=)
|
|
|
NM_001352514.2(HLCS):c.816C>G (p.Ala272=)
|
rs376665169
|
|
NM_001352514.2(HLCS):c.828A>G (p.Pro276=)
|
rs2066924267
|
|
NM_001352514.2(HLCS):c.834T>C (p.Leu278=)
|
rs2146527642
|
|
NM_001352514.2(HLCS):c.846T>C (p.Tyr282=)
|
|
|
NM_001352514.2(HLCS):c.873T>C (p.Asp291=)
|
|
|
NM_001352514.2(HLCS):c.879C>T (p.Thr293=)
|
|
|
NM_001352514.2(HLCS):c.882C>T (p.Ser294=)
|
|
|
NM_001352514.2(HLCS):c.915G>A (p.Thr305=)
|
rs1000269533
|
|
NM_001352514.2(HLCS):c.924A>G (p.Ala308=)
|
|
|
NM_001352514.2(HLCS):c.927C>A (p.Pro309=)
|
|
|
NM_001352514.2(HLCS):c.933C>T (p.Ile311=)
|
rs1057523220
|
|
NM_001352514.2(HLCS):c.939C>G (p.Leu313=)
|
|
|
NM_001352514.2(HLCS):c.942T>C (p.Tyr314=)
|
rs1232499269
|
|
NM_001352514.2(HLCS):c.945G>T (p.Val315=)
|
rs2146526787
|
|
NM_001352514.2(HLCS):c.951C>G (p.Ser317=)
|
rs185480832
|
|
NM_001352514.2(HLCS):c.963A>G (p.Glu321=)
|
rs767893846
|
|
NM_001352514.2(HLCS):c.978C>T (p.Phe326=)
|
|
|
NM_001352514.2(HLCS):c.984G>A (p.Glu328=)
|
|
|
NM_001352514.2(HLCS):c.990G>A (p.Arg330=)
|
rs771741236
|
|
NM_001352514.2(HLCS):c.990G>T (p.Arg330=)
|
|
|
NM_001352514.2(HLCS):c.997C>T (p.Leu333=)
|
rs1245601073
|
|
NM_001352514.2(HLCS):c.999G>T (p.Leu333=)
|
rs1324605554
|
|
NM_001370658.1(BTD):c.-16-19T>C
|
|
|
NM_001370658.1(BTD):c.-16-5T>C
|
|
|
NM_001370658.1(BTD):c.-16-7A>G
|
|
|
NM_001370658.1(BTD):c.-16-7A>T
|
|
|
NM_001370658.1(BTD):c.-16-7del
|
|
|
NM_001370658.1(BTD):c.-17+12_-17+27dup
|
|
|
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_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_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_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_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_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_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_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_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_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_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_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_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
|
|