NM_000116.5(TAFAZZIN):c.110-17=
|
rs62617809
|
0.99999
|
NM_022132.5(MCCC2):c.*1243G>C
|
rs7731970
|
0.80030
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_025136.4(OPA3):c.*1836C>T
|
rs74717111
|
0.01070
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_172250.3(MMAA):c.*600G>A
|
rs112882351
|
0.00820
|
NM_025136.4(OPA3):c.*4853T>A
|
rs886054516
|
0.00709
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
NM_025136.4(OPA3):c.*6767G>A
|
rs142898530
|
0.00668
|
NM_000019.4(ACAT1):c.941-14C>T
|
rs12801620
|
0.00658
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_052845.4(MMAB):c.*3019A>G
|
rs78065254
|
0.00564
|
NM_025136.4(OPA3):c.*6442A>G
|
rs76825983
|
0.00518
|
NM_002225.5(IVD):c.*2630G>A
|
rs28654574
|
0.00497
|
NM_000255.4(MMUT):c.*278A>G
|
rs182726681
|
0.00484
|
NM_025136.4(OPA3):c.*1642A>G
|
rs144894771
|
0.00484
|
NM_172250.3(MMAA):c.*2807C>T
|
rs7675466
|
0.00480
|
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)
|
rs150642856
|
0.00479
|
NM_025136.4(OPA3):c.*4954C>T
|
rs146646433
|
0.00462
|
NM_025136.4(OPA3):c.*6208C>T
|
rs139798464
|
0.00458
|
NM_025136.4(OPA3):c.*398G>T
|
rs183851663
|
0.00449
|
NM_025136.4(OPA3):c.*3117C>T
|
rs569595277
|
0.00427
|
NM_172250.3(MMAA):c.*541A>G
|
rs114729477
|
0.00424
|
NM_022132.5(MCCC2):c.-38G>A
|
rs186132078
|
0.00403
|
NM_001370658.1(BTD):c.*211G>A
|
rs78601074
|
0.00384
|
NM_001609.4(ACADSB):c.*2803T>C
|
rs187253795
|
0.00365
|
NM_025136.4(OPA3):c.*2101A>T
|
rs139606810
|
0.00363
|
NM_025136.4(OPA3):c.*6101A>G
|
rs187296782
|
0.00363
|
NM_022132.5(MCCC2):c.*526C>T
|
rs181669670
|
0.00339
|
NM_172250.3(MMAA):c.*1966C>T
|
rs147742767
|
0.00337
|
NM_025136.4(OPA3):c.*80G>T
|
rs540023428
|
0.00315
|
NM_052845.4(MMAB):c.*3295C>T
|
rs144430513
|
0.00304
|
NM_172250.3(MMAA):c.*4326A>T
|
rs182426004
|
0.00304
|
NM_052845.4(MMAB):c.*1088A>T
|
rs142486697
|
0.00303
|
NM_001017989.3(OPA3):c.143-16812G>A
|
rs192699227
|
0.00300
|
NM_001609.4(ACADSB):c.*808G>C
|
rs41299169
|
0.00297
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
NM_172250.3(MMAA):c.*1610C>T
|
rs185925141
|
0.00285
|
NM_000255.4(MMUT):c.*627C>T
|
rs534290000
|
0.00272
|
NM_025136.4(OPA3):c.*5944G>A
|
rs190885103
|
0.00271
|
NM_001352514.2(HLCS):c.*3159_*3162del
|
rs535525635
|
0.00270
|
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_000255.4(MMUT):c.*126A>G
|
rs192605776
|
0.00255
|
NM_000255.4(MMUT):c.*558A>G
|
rs111322712
|
0.00254
|
NM_052845.4(MMAB):c.*1685G>A
|
rs117011771
|
0.00244
|
NM_172250.3(MMAA):c.*4533C>T
|
rs114762906
|
0.00244
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00243
|
NM_000255.4(MMUT):c.*257A>C
|
rs187747098
|
0.00235
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
NM_172250.3(MMAA):c.*188A>G
|
rs886059091
|
0.00233
|
NM_020166.5(MCCC1):c.*1A>T
|
rs115605600
|
0.00230
|
NM_025136.4(OPA3):c.*6554G>A
|
rs184177890
|
0.00229
|
NM_052845.4(MMAB):c.*1067C>T
|
rs143292900
|
0.00226
|
NM_025136.4(OPA3):c.*3755G>A
|
rs555830952
|
0.00225
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
NM_025136.4(OPA3):c.*540G>T
|
rs149360920
|
0.00220
|
NM_000282.4(PCCA):c.1236A>G (p.Pro412=)
|
rs41281120
|
0.00219
|
NM_025136.4(OPA3):c.*5510G>A
|
rs180756622
|
0.00213
|
NM_001352514.2(HLCS):c.*590A>G
|
rs148195019
|
0.00207
|
NM_000532.5(PCCB):c.*44C>T
|
rs201452852
|
0.00197
|
NM_000191.3(HMGCL):c.*104G>A
|
rs552915017
|
0.00185
|
NM_025136.3(OPA3):c.-113T>C
|
rs139731330
|
0.00185
|
NM_025136.4(OPA3):c.*422C>T
|
rs116977551
|
0.00184
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_000255.4(MMUT):c.-78C>A
|
rs553218776
|
0.00178
|
NM_000255.4(MMUT):c.-79G>A
|
rs184509406
|
0.00178
|
NM_172250.3(MMAA):c.*97G>C
|
rs148424051
|
0.00178
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_001352514.2(HLCS):c.*1856T>C
|
rs151042283
|
0.00171
|
NM_022132.5(MCCC2):c.1217-7C>G
|
rs148369119
|
0.00171
|
NM_172250.3(MMAA):c.*3325C>T
|
rs529131828
|
0.00170
|
NM_022132.5(MCCC2):c.*191A>T
|
rs142332769
|
0.00169
|
NM_001081.4(CUBN):c.10119C>A (p.Val3373=)
|
rs139596037
|
0.00168
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
NM_172250.3(MMAA):c.-66+10G>C
|
rs546775043
|
0.00165
|
NM_172250.3(MMAA):c.-14C>T
|
rs138947726
|
0.00164
|
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)
|
rs148091558
|
0.00163
|
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_052845.4(MMAB):c.*2342G>A
|
rs72650176
|
0.00162
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
NM_001081.4(CUBN):c.*436C>A
|
rs574512019
|
0.00159
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_025136.4(OPA3):c.*2008C>T
|
rs144432336
|
0.00156
|
NM_025136.4(OPA3):c.*3360G>A
|
rs545764728
|
0.00156
|
NM_172250.3(MMAA):c.*1988A>T
|
rs141116337
|
0.00156
|
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)
|
rs141868117
|
0.00150
|
NM_025136.4(OPA3):c.*5565C>T
|
rs145816878
|
0.00149
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
NM_000282.4(PCCA):c.828T>C (p.Gly276=)
|
rs143838146
|
0.00143
|
NM_001352514.2(HLCS):c.*2921A>G
|
rs555149143
|
0.00141
|
NM_001352514.2(HLCS):c.*2243C>T
|
rs554230015
|
0.00140
|
NM_001609.4(ACADSB):c.*277A>T
|
rs149609453
|
0.00139
|
NM_001195087.2(GGACT):c.*1774G>C
|
rs41281124
|
0.00137
|
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr)
|
rs139852818
|
0.00137
|
NM_002225.5(IVD):c.*131G>A
|
rs190115786
|
0.00135
|
NM_172250.3(MMAA):c.*3035A>C
|
rs576544645
|
0.00135
|
NM_172250.3(MMAA):c.102C>T (p.Leu34=)
|
rs146372922
|
0.00135
|
NM_052845.4(MMAB):c.-4G>C
|
rs372195202
|
0.00134
|
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)
|
rs117620008
|
0.00133
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_020166.5(MCCC1):c.639+13A>G
|
rs140342772
|
0.00132
|
NM_000019.3(ACAT1):c.*553T>A
|
rs183999318
|
0.00131
|
NM_025136.4(OPA3):c.*3884G>A
|
rs187028696
|
0.00128
|
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_022132.5(MCCC2):c.450G>C (p.Val150=)
|
rs151098534
|
0.00121
|
NM_001352514.2(HLCS):c.*3162T>C
|
rs552016201
|
0.00118
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_025136.4(OPA3):c.*2490C>T
|
rs11671670
|
0.00117
|
NM_000255.4(MMUT):c.393G>A (p.Gln131=)
|
rs145682249
|
0.00116
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
NM_001698.3(AUH):c.*29G>A
|
rs200499826
|
0.00116
|
NM_001352514.2(HLCS):c.*2163A>G
|
rs139776215
|
0.00115
|
NM_020166.5(MCCC1):c.*6A>C
|
rs199827064
|
0.00112
|
NM_001081.4(CUBN):c.5967G>C (p.Val1989=)
|
rs139153235
|
0.00111
|
NM_001609.4(ACADSB):c.*285T>C
|
rs552366364
|
0.00111
|
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met)
|
rs139792723
|
0.00111
|
NM_052845.4(MMAB):c.*1988C>T
|
rs183354300
|
0.00111
|
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=)
|
rs201001705
|
0.00105
|
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His)
|
rs147330179
|
0.00104
|
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)
|
rs146668962
|
0.00104
|
NM_001352514.2(HLCS):c.*2444C>T
|
rs546201018
|
0.00103
|
NM_025136.4(OPA3):c.*6688G>A
|
rs181576269
|
0.00102
|
NM_022132.5(MCCC2):c.*819G>A
|
rs565662004
|
0.00100
|
NM_002225.5(IVD):c.*1240T>A
|
rs146819701
|
0.00099
|
NM_001609.4(ACADSB):c.*2529G>A
|
rs182831006
|
0.00098
|
NM_001609.4(ACADSB):c.*3390C>A
|
rs751677400
|
0.00098
|
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)
|
rs150352833
|
0.00096
|
NM_025136.4(OPA3):c.*2518A>G
|
rs565012397
|
0.00096
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
NM_022132.5(MCCC2):c.*552C>T
|
rs544574975
|
0.00093
|
NM_001609.4(ACADSB):c.*2174A>G
|
rs577027224
|
0.00092
|
NM_025136.4(OPA3):c.*4949G>A
|
rs544881797
|
0.00092
|
NM_025136.4(OPA3):c.*5357G>A
|
rs549141863
|
0.00092
|
NM_172250.3(MMAA):c.*342A>G
|
rs886059093
|
0.00092
|
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=)
|
rs147730705
|
0.00091
|
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=)
|
rs140524729
|
0.00091
|
NM_001352514.2(HLCS):c.331-7170T>A
|
rs181989786
|
0.00091
|
NM_052845.4(MMAB):c.*2023C>T
|
rs546885397
|
0.00091
|
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=)
|
rs143531829
|
0.00090
|
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)
|
rs141164907
|
0.00089
|
NM_000019.3(ACAT1):c.-70T>A
|
rs566741161
|
0.00088
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_025136.4(OPA3):c.*1238G>A
|
rs187216413
|
0.00088
|
NM_000282.4(PCCA):c.2040+11dup
|
rs779884567
|
0.00087
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=)
|
rs145569358
|
0.00086
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_025136.4(OPA3):c.*677C>T
|
rs560749495
|
0.00086
|
NM_025136.4(OPA3):c.*6436_*6437insG
|
rs886054506
|
0.00085
|
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg)
|
rs147457956
|
0.00085
|
NM_000282.4(PCCA):c.1065+5C>T
|
rs201597816
|
0.00083
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
NM_001081.4(CUBN):c.7210+9A>G
|
rs117711403
|
0.00081
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
NM_020166.5(MCCC1):c.*45A>T
|
rs186406584
|
0.00081
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys)
|
rs140727018
|
0.00079
|
NM_172250.3(MMAA):c.*192G>A
|
rs188845060
|
0.00078
|
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile)
|
rs147538201
|
0.00076
|
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)
|
rs138480247
|
0.00075
|
NM_000532.5(PCCB):c.-34G>A
|
rs372649775
|
0.00074
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
NM_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
NM_172250.3(MMAA):c.966A>G (p.Pro322=)
|
rs150692463
|
0.00073
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_000282.4(PCCA):c.1896A>G (p.Thr632=)
|
rs61760965
|
0.00071
|
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly)
|
rs145023719
|
0.00070
|
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile)
|
rs141737312
|
0.00070
|
NM_025136.4(OPA3):c.*3350T>G
|
rs181719786
|
0.00070
|
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val)
|
rs144182725
|
0.00068
|
NM_001081.4(CUBN):c.*782G>A
|
rs570478432
|
0.00067
|
NM_001243279.3(ACSF3):c.823-4G>C
|
rs558325262
|
0.00067
|
NM_002225.5(IVD):c.*290dup
|
rs529793013
|
0.00067
|
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
|
rs146795035
|
0.00067
|
NM_000532.5(PCCB):c.*91C>A
|
rs115533065
|
0.00066
|
NM_001698.3(AUH):c.598+10A>C
|
rs186203318
|
0.00066
|
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe)
|
rs139926581
|
0.00066
|
NM_025136.4(OPA3):c.*698G>A
|
rs561748985
|
0.00065
|
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)
|
rs140970422
|
0.00064
|
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn)
|
rs142513139
|
0.00064
|
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=)
|
rs140941507
|
0.00061
|
NM_001352514.2(HLCS):c.331-7076C>T
|
rs541806392
|
0.00061
|
NM_020166.5(MCCC1):c.1731+6C>A
|
rs369754994
|
0.00061
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
NM_001352514.2(HLCS):c.*2814C>T
|
rs146199781
|
0.00059
|
NM_025136.4(OPA3):c.*742A>T
|
rs979052921
|
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_001352514.2(HLCS):c.*2545C>A
|
rs180866987
|
0.00056
|
NM_014384.3(ACAD8):c.*622C>T
|
rs146349594
|
0.00056
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00056
|
NM_025136.4(OPA3):c.*6674T>C
|
rs534603782
|
0.00056
|
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp)
|
rs113390214
|
0.00055
|
NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr)
|
rs147447600
|
0.00055
|
NM_022132.5(MCCC2):c.*773C>T
|
rs1013092369
|
0.00055
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
NM_000532.5(PCCB):c.763+10C>G
|
rs180982841
|
0.00054
|
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)
|
rs370382601
|
0.00053
|
NM_001609.4(ACADSB):c.67T>G (p.Leu23Val)
|
rs149562178
|
0.00053
|
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)
|
rs144777839
|
0.00051
|
NM_020166.5(MCCC1):c.-23C>T
|
rs374636986
|
0.00051
|
NM_025136.4(OPA3):c.*1614C>T
|
rs185624158
|
0.00051
|
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr)
|
rs150968643
|
0.00050
|
NM_000532.5(PCCB):c.603T>C (p.Ala201=)
|
rs141340198
|
0.00050
|
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser)
|
rs73477459
|
0.00050
|
NM_052845.4(MMAB):c.*3265A>G
|
rs776804847
|
0.00050
|
NM_018368.4(LMBRD1):c.-103A>G
|
rs369575833
|
0.00049
|
NM_020166.5(MCCC1):c.130G>T (p.Ala44Ser)
|
rs201216516
|
0.00049
|
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val)
|
rs200673204
|
0.00049
|
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
|
rs138937107
|
0.00049
|
NM_025136.4(OPA3):c.*4846A>T
|
rs1438623626
|
0.00048
|
NM_052845.4(MMAB):c.620C>T (p.Ala207Val)
|
rs61739388
|
0.00048
|
NM_001081.4(CUBN):c.*734A>G
|
rs751683958
|
0.00046
|
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)
|
rs144942416
|
0.00045
|
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met)
|
rs191115811
|
0.00045
|
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)
|
rs144203670
|
0.00045
|
NM_032861.4(SERAC1):c.1404-3C>G
|
rs367596327
|
0.00045
|
NM_000282.4(PCCA):c.1002C>T (p.Thr334=)
|
rs150106872
|
0.00044
|
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr)
|
rs149749419
|
0.00044
|
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=)
|
rs148976047
|
0.00044
|
NM_001698.3(AUH):c.*432C>T
|
rs746233646
|
0.00044
|
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_001609.4(ACADSB):c.*972A>G
|
rs529575388
|
0.00043
|
NM_022132.5(MCCC2):c.328G>A (p.Asp110Asn)
|
rs145438308
|
0.00043
|
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=)
|
rs142560894
|
0.00042
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro)
|
rs774205809
|
0.00042
|
NM_001081.4(CUBN):c.671G>A (p.Arg224His)
|
rs139891639
|
0.00041
|
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)
|
rs41289299
|
0.00041
|
NM_022132.5(MCCC2):c.90G>T (p.Ser30=)
|
rs559384926
|
0.00041
|
NM_025136.4(OPA3):c.-7C>G
|
rs199590627
|
0.00041
|
NM_052845.4(MMAB):c.*961G>A
|
rs541447661
|
0.00041
|
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
|
rs144907014
|
0.00040
|
NM_022132.5(MCCC2):c.*548C>T
|
rs933207621
|
0.00040
|
NM_025136.4(OPA3):c.*1213C>T
|
rs539298843
|
0.00040
|
NM_025136.4(OPA3):c.*7181G>A
|
rs74253369
|
0.00040
|
NM_172250.3(MMAA):c.*4103G>A
|
rs191381122
|
0.00040
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_001698.3(AUH):c.730G>A (p.Asp244Asn)
|
rs202182817
|
0.00039
|
NM_172250.3(MMAA):c.*2562C>T
|
rs529092235
|
0.00039
|
NM_000255.4(MMUT):c.-135G>T
|
rs778890521
|
0.00038
|
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)
|
rs201898615
|
0.00038
|
NM_025136.4(OPA3):c.*6902G>A
|
rs528812143
|
0.00037
|
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val)
|
rs137958217
|
0.00036
|
NM_000282.4(PCCA):c.2055A>G (p.Gln685=)
|
rs147568036
|
0.00036
|
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
|
rs74574054
|
0.00036
|
NM_001609.4(ACADSB):c.*1508C>T
|
rs886046788
|
0.00036
|
NM_001609.4(ACADSB):c.*3409A>T
|
rs568844573
|
0.00036
|
NM_032861.4(SERAC1):c.1259T>C (p.Ile420Thr)
|
rs114741005
|
0.00036
|
NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val)
|
rs149034301
|
0.00036
|
NM_000282.4(PCCA):c.2037C>T (p.Asp679=)
|
rs146870931
|
0.00035
|
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)
|
rs145141432
|
0.00035
|
NM_022132.5(MCCC2):c.*725C>T
|
rs370508668
|
0.00035
|
NM_052845.4(MMAB):c.*2740G>A
|
rs139886832
|
0.00035
|
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala)
|
rs150392211
|
0.00034
|
NM_001609.4(ACADSB):c.*1337A>G
|
rs190353878
|
0.00034
|
NM_005050.4(ABCD4):c.752G>A (p.Arg251His)
|
rs139315421
|
0.00034
|
NM_022132.5(MCCC2):c.1374-10C>T
|
rs766032118
|
0.00034
|
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly)
|
rs146896149
|
0.00034
|
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser)
|
rs188766510
|
0.00033
|
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln)
|
rs149622438
|
0.00033
|
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr)
|
rs148640214
|
0.00033
|
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
|
rs148332041
|
0.00033
|
NM_022132.5(MCCC2):c.*1297G>A
|
rs547084096
|
0.00033
|
NM_022132.5(MCCC2):c.738+9A>G
|
rs776559643
|
0.00033
|
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys)
|
rs138022214
|
0.00032
|
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile)
|
rs146895312
|
0.00032
|
NM_001352514.2(HLCS):c.1621-12T>C
|
rs367728041
|
0.00032
|
NM_022132.5(MCCC2):c.*565C>A
|
rs565365607
|
0.00032
|
NM_000019.3(ACAT1):c.*574G>C
|
rs775813923
|
0.00031
|
NM_000532.5(PCCB):c.180G>A (p.Lys60=)
|
rs140636870
|
0.00031
|
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys)
|
rs150014503
|
0.00031
|
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
|
rs144626884
|
0.00031
|
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser)
|
rs150985118
|
0.00031
|
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)
|
rs375374971
|
0.00031
|
NM_002225.5(IVD):c.*1005T>C
|
rs560096869
|
0.00031
|
NM_002225.5(IVD):c.*287C>T
|
rs565064447
|
0.00031
|
NM_052845.4(MMAB):c.*3043T>G
|
rs771530065
|
0.00031
|
NM_052845.4(MMAB):c.*503G>A
|
rs766339289
|
0.00031
|
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
|
rs371714495
|
0.00031
|
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly)
|
rs147872303
|
0.00030
|
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser)
|
rs201273972
|
0.00030
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
NM_022132.5(MCCC2):c.*714G>A
|
rs562662053
|
0.00030
|
NM_025136.4(OPA3):c.*1070C>T
|
rs146989248
|
0.00030
|
NM_000255.4(MMUT):c.*466G>A
|
rs538293537
|
0.00029
|
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg)
|
rs138374956
|
0.00029
|
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser)
|
rs74844886
|
0.00029
|
NM_001081.4(CUBN):c.814G>A (p.Gly272Arg)
|
rs146035059
|
0.00029
|
NM_001258392.3(CLPB):c.646+6T>C
|
rs374982363
|
0.00029
|
NM_001352514.2(HLCS):c.*2771C>T
|
rs746169122
|
0.00029
|
NM_001352514.2(HLCS):c.*430T>C
|
rs186680398
|
0.00029
|
NM_001609.4(ACADSB):c.*3332A>T
|
rs763405920
|
0.00029
|
NM_001609.4(ACADSB):c.*3470T>C
|
rs547577402
|
0.00029
|
NM_001698.3(AUH):c.936T>C (p.Tyr312=)
|
rs139628387
|
0.00029
|
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu)
|
rs142696207
|
0.00029
|
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
|
rs61755260
|
0.00029
|
NM_022132.5(MCCC2):c.*368T>C
|
rs769233664
|
0.00029
|
NM_172250.3(MMAA):c.*2139A>G
|
rs772671304
|
0.00029
|
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser)
|
rs200908035
|
0.00028
|
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro)
|
rs563417983
|
0.00028
|
NM_001081.4(CUBN):c.9664-9T>G
|
rs145383974
|
0.00028
|
NM_025136.4(OPA3):c.*4372G>A
|
rs573344031
|
0.00028
|
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala)
|
rs145881708
|
0.00027
|
NM_025136.4(OPA3):c.*5660A>G
|
rs935989223
|
0.00027
|
NM_172250.3(MMAA):c.*1584A>G
|
rs530538534
|
0.00027
|
NM_172250.3(MMAA):c.*177A>G
|
rs572996882
|
0.00027
|
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys)
|
rs144313458
|
0.00027
|
NM_000255.4(MMUT):c.*1044T>A
|
rs779436906
|
0.00026
|
NM_000282.4(PCCA):c.660C>T (p.Ala220=)
|
rs145826296
|
0.00026
|
NM_000532.5(PCCB):c.82C>G (p.Leu28Val)
|
rs141137691
|
0.00026
|
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
|
rs369981313
|
0.00026
|
NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=)
|
rs150510291
|
0.00026
|
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)
|
rs143899993
|
0.00026
|
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp)
|
rs148534573
|
0.00026
|
NM_001352514.2(HLCS):c.*1084C>T
|
rs530869762
|
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_001609.4(ACADSB):c.*1907C>T
|
rs886046793
|
0.00026
|
NM_002225.5(IVD):c.400A>G (p.Ile134Val)
|
rs151118565
|
0.00026
|
NM_025136.4(OPA3):c.*1091C>G
|
rs557691359
|
0.00026
|
NM_052845.4(MMAB):c.*2051C>T
|
rs775263273
|
0.00026
|
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln)
|
rs370042988
|
0.00026
|
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile)
|
rs1183369398
|
0.00025
|
NM_001352514.2(HLCS):c.*2541C>T
|
rs184935954
|
0.00025
|
NM_001243279.3(ACSF3):c.1502-4G>A
|
rs111414659
|
0.00024
|
NM_001698.3(AUH):c.791G>A (p.Gly264Glu)
|
rs376821113
|
0.00024
|
NM_025136.4(OPA3):c.*2714C>T
|
rs781539538
|
0.00024
|
NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys)
|
rs146410859
|
0.00024
|
NM_000255.4(MMUT):c.*986G>A
|
rs886061552
|
0.00023
|
NM_000282.4(PCCA):c.965C>T (p.Ala322Val)
|
rs143527709
|
0.00022
|
NM_000532.5(PCCB):c.544-5G>C
|
rs372351800
|
0.00022
|
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg)
|
rs1801237
|
0.00022
|
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)
|
rs140986055
|
0.00022
|
NM_001370658.1(BTD):c.-148C>T
|
rs774964227
|
0.00022
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
NM_001609.4(ACADSB):c.*3321C>T
|
rs775939335
|
0.00022
|
NM_001698.3(AUH):c.464G>C (p.Gly155Ala)
|
rs377491933
|
0.00022
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
0.00022
|
NM_025136.4(OPA3):c.*6698G>T
|
rs768694312
|
0.00022
|
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
|
rs139120939
|
0.00021
|
NM_000282.4(PCCA):c.-20G>A
|
rs374941593
|
0.00021
|
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
|
rs143096615
|
0.00021
|
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn)
|
rs533512333
|
0.00021
|
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg)
|
rs150202444
|
0.00021
|
NM_001195087.2(GGACT):c.*1930T>G
|
rs770148620
|
0.00021
|
NM_002225.5(IVD):c.408G>C (p.Gln136His)
|
rs569537063
|
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_025136.4(OPA3):c.*3891C>T
|
rs752997579
|
0.00021
|
NM_025136.4(OPA3):c.*5570C>T
|
rs766783593
|
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_000255.4(MMUT):c.1808+15T>C
|
rs369131814
|
0.00020
|
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=)
|
rs539500659
|
0.00020
|
NM_025136.4(OPA3):c.*5739C>T
|
rs375835737
|
0.00020
|
NM_052845.4(MMAB):c.*3142G>A
|
rs747166756
|
0.00020
|
NM_172250.3(MMAA):c.*2471G>A
|
rs886059106
|
0.00020
|
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu)
|
rs190834116
|
0.00019
|
NM_000255.4(MMUT):c.781A>G (p.Ile261Val)
|
rs375054307
|
0.00019
|
NM_001081.4(CUBN):c.10293C>T (p.His3431=)
|
rs1266678482
|
0.00019
|
NM_001081.4(CUBN):c.388-3C>T
|
rs367626184
|
0.00019
|
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met)
|
rs140202552
|
0.00019
|
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly)
|
rs144704318
|
0.00019
|
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr)
|
rs149802222
|
0.00019
|
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=)
|
rs139990077
|
0.00019
|
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=)
|
rs200457480
|
0.00019
|
NM_001195087.2(GGACT):c.*1848C>T
|
rs886049929
|
0.00019
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu)
|
rs781425127
|
0.00019
|
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met)
|
rs145141190
|
0.00019
|
NM_001352514.2(HLCS):c.*1852G>T
|
rs551457805
|
0.00019
|
NM_001609.4(ACADSB):c.*3597G>A
|
rs755235760
|
0.00019
|
NM_002225.5(IVD):c.*805G>A
|
rs183425220
|
0.00019
|
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln)
|
rs199986349
|
0.00019
|
NM_005334.3(HCFC1):c.905-3C>T
|
rs200367055
|
0.00019
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_025136.4(OPA3):c.*5013A>G
|
rs780964248
|
0.00019
|
NM_025136.4(OPA3):c.*6072A>G
|
rs576104602
|
0.00019
|
NM_052845.4(MMAB):c.*2914G>A
|
rs759971406
|
0.00019
|
NM_172250.3(MMAA):c.701C>T (p.Ala234Val)
|
rs367609164
|
0.00019
|
NM_000191.3(HMGCL):c.*338G>C
|
rs988536831
|
0.00018
|
NM_000255.4(MMUT):c.1332+3A>C
|
rs367641890
|
0.00018
|
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu)
|
rs141829043
|
0.00018
|
NM_001081.4(CUBN):c.349-9T>C
|
rs375431948
|
0.00018
|
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp)
|
rs142667203
|
0.00018
|
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=)
|
rs147915828
|
0.00018
|
NM_001243279.3(ACSF3):c.1613+3A>C
|
rs373631805
|
0.00018
|
NM_001352514.2(HLCS):c.*3156A>G
|
rs886738924
|
0.00018
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_002225.5(IVD):c.38C>T (p.Ala13Val)
|
rs189587579
|
0.00018
|
NM_025136.4(OPA3):c.*3278C>T
|
rs770317628
|
0.00018
|
NM_025136.4(OPA3):c.*5597C>T
|
rs560019290
|
0.00018
|
NM_000255.4(MMUT):c.1333-8C>T
|
rs199555550
|
0.00017
|
NM_000282.4(PCCA):c.328G>C (p.Val110Leu)
|
rs150788587
|
0.00017
|
NM_000282.4(PCCA):c.382A>G (p.Met128Val)
|
rs144201462
|
0.00017
|
NM_001081.4(CUBN):c.*940A>G
|
rs560609264
|
0.00017
|
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser)
|
rs370803308
|
0.00017
|
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=)
|
rs376536525
|
0.00017
|
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)
|
rs149690919
|
0.00017
|
NM_001609.4(ACADSB):c.*84G>A
|
rs574895675
|
0.00017
|
NM_001609.4(ACADSB):c.795C>T (p.Phe265=)
|
rs150619709
|
0.00017
|
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala)
|
rs201714172
|
0.00017
|
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala)
|
rs12214456
|
0.00017
|
NM_025136.4(OPA3):c.*5923G>A
|
rs149788703
|
0.00017
|
NM_025136.4(OPA3):c.*6626G>A
|
rs139757997
|
0.00017
|
NM_052845.4(MMAB):c.*2636A>G
|
rs748949434
|
0.00017
|
NM_172250.3(MMAA):c.630A>G (p.Pro210=)
|
rs374347679
|
0.00017
|
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys)
|
rs139848689
|
0.00016
|
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg)
|
rs371127860
|
0.00016
|
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=)
|
rs200115233
|
0.00016
|
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys)
|
rs376641725
|
0.00016
|
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)
|
rs202182978
|
0.00016
|
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser)
|
rs200703917
|
0.00016
|
NM_001352514.2(HLCS):c.*2069T>C
|
rs540511044
|
0.00016
|
NM_001609.4(ACADSB):c.1128+2dup
|
rs762666946
|
0.00016
|
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)
|
rs183607306
|
0.00016
|
NM_025136.3(OPA3):c.-96A>G
|
rs566870092
|
0.00016
|
NM_052845.4(MMAB):c.*554G>A
|
rs562420933
|
0.00016
|
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr)
|
rs201536536
|
0.00015
|
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu)
|
rs140566726
|
0.00015
|
NM_001081.4(CUBN):c.427A>C (p.Asn143His)
|
rs151018922
|
0.00015
|
NM_001370658.1(BTD):c.-105C>T
|
rs184480128
|
0.00015
|
NM_001698.3(AUH):c.678C>T (p.Arg226=)
|
rs143768042
|
0.00015
|
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu)
|
rs145946172
|
0.00015
|
NM_018368.4(LMBRD1):c.*166A>G
|
rs960902863
|
0.00015
|
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
|
rs143642515
|
0.00015
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
NM_022132.5(MCCC2):c.701G>A (p.Arg234His)
|
rs202100813
|
0.00015
|
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val)
|
rs141676987
|
0.00015
|
NM_025136.4(OPA3):c.*3442A>G
|
rs138449967
|
0.00015
|
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
|
rs143892373
|
0.00014
|
NM_000255.4(MMUT):c.189C>A (p.Thr63=)
|
rs777167901
|
0.00014
|
NM_000282.3(PCCA):c.-60C>T
|
rs778039561
|
0.00014
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
NM_001081.4(CUBN):c.*560C>T
|
rs45565931
|
0.00014
|
NM_001081.4(CUBN):c.-35G>C
|
rs376502722
|
0.00014
|
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr)
|
rs368630481
|
0.00014
|
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly)
|
rs750735519
|
0.00014
|
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu)
|
rs143741363
|
0.00014
|
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr)
|
rs148491916
|
0.00014
|
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg)
|
rs752843169
|
0.00014
|
NM_001243279.3(ACSF3):c.1613+8T>G
|
rs1358602745
|
0.00014
|
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys)
|
rs756279730
|
0.00014
|
NM_001352514.2(HLCS):c.*1273T>A
|
rs565500474
|
0.00014
|
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
|
rs376210604
|
0.00014
|
NM_001352514.2(HLCS):c.294A>C (p.Gln98His)
|
rs751729789
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_002225.5(IVD):c.*1313C>G
|
rs550652153
|
0.00014
|
NM_002225.5(IVD):c.*1839C>G
|
rs186670312
|
0.00014
|
NM_002225.5(IVD):c.879-5G>A
|
rs750569823
|
0.00014
|
NM_005050.4(ABCD4):c.719+6T>C
|
rs755014125
|
0.00014
|
NM_014384.3(ACAD8):c.*705T>G
|
rs534413850
|
0.00014
|
NM_014384.3(ACAD8):c.384G>A (p.Met128Ile)
|
rs374317179
|
0.00014
|
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu)
|
rs201601241
|
0.00014
|
NM_022132.5(MCCC2):c.114C>G (p.Gly38=)
|
rs750638270
|
0.00014
|
NM_025136.4(OPA3):c.*1018A>G
|
rs534682712
|
0.00014
|
NM_025136.4(OPA3):c.*5045C>T
|
rs573380409
|
0.00014
|
NM_025136.4(OPA3):c.*649C>T
|
rs886054537
|
0.00014
|
NM_032861.4(SERAC1):c.1483A>C (p.Ile495Leu)
|
rs370591885
|
0.00014
|
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)
|
rs143065058
|
0.00014
|
NM_052845.4(MMAB):c.444G>A (p.Gly148=)
|
rs117269384
|
0.00014
|
NM_052845.4(MMAB):c.503C>T (p.Thr168Met)
|
rs200690789
|
0.00014
|
NM_052845.4(MMAB):c.678T>C (p.Tyr226=)
|
rs111678627
|
0.00014
|
NM_172250.3(MMAA):c.*3222T>C
|
rs886059112
|
0.00014
|
NM_000255.4(MMUT):c.*465C>T
|
rs886061555
|
0.00013
|
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln)
|
rs148285323
|
0.00013
|
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys)
|
rs375920680
|
0.00013
|
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala)
|
rs377159715
|
0.00013
|
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=)
|
rs200146632
|
0.00013
|
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)
|
rs575286749
|
0.00013
|
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser)
|
rs538159086
|
0.00013
|
NM_001609.4(ACADSB):c.*1754A>G
|
rs886046791
|
0.00013
|
NM_001609.4(ACADSB):c.*3619T>C
|
rs886046802
|
0.00013
|
NM_002225.5(IVD):c.*566A>T
|
rs549510775
|
0.00013
|
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
|
rs754862915
|
0.00013
|
NM_015702.3(MMADHC):c.-60G>A
|
rs886054923
|
0.00013
|
NM_015702.3(MMADHC):c.10-9C>G
|
rs376032730
|
0.00013
|
NM_018368.4(LMBRD1):c.*125A>G
|
rs886061689
|
0.00013
|
NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val)
|
rs140727621
|
0.00013
|
NM_022132.5(MCCC2):c.384-20A>G
|
rs770917710
|
0.00013
|
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg)
|
rs147085187
|
0.00013
|
NM_052845.4(MMAB):c.*2053C>T
|
rs545623412
|
0.00013
|
NM_172250.3(MMAA):c.*942A>G
|
rs886059096
|
0.00013
|
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)
|
rs369440498
|
0.00012
|
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys)
|
rs375663114
|
0.00012
|
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)
|
rs148032473
|
0.00012
|
NM_000532.5(PCCB):c.23C>T (p.Ala8Val)
|
rs764602019
|
0.00012
|
NM_000532.5(PCCB):c.250A>G (p.Met84Val)
|
rs201950515
|
0.00012
|
NM_001081.4(CUBN):c.1236T>C (p.Thr412=)
|
rs201404467
|
0.00012
|
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr)
|
rs201589187
|
0.00012
|
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)
|
rs139520739
|
0.00012
|
NM_001243279.3(ACSF3):c.796A>G (p.Met266Val)
|
rs141607995
|
0.00012
|
NM_001352514.2(HLCS):c.*1827C>A
|
rs768653798
|
0.00012
|
NM_001352514.2(HLCS):c.*2555T>C
|
rs79868396
|
0.00012
|
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=)
|
rs148709879
|
0.00012
|
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
|
rs200453837
|
0.00012
|
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)
|
rs141131444
|
0.00012
|
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)
|
rs144901367
|
0.00012
|
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr)
|
rs201049927
|
0.00012
|
NM_014384.3(ACAD8):c.607G>A (p.Val203Ile)
|
rs759877257
|
0.00012
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr)
|
rs149957640
|
0.00012
|
NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys)
|
rs144578800
|
0.00012
|
NM_052845.4(MMAB):c.*1482C>T
|
rs576738108
|
0.00012
|
NM_052845.4(MMAB):c.584+6A>G
|
rs767719463
|
0.00012
|
NM_172250.3(MMAA):c.*1425C>T
|
rs529476650
|
0.00012
|
NM_172250.3(MMAA):c.941G>A (p.Arg314His)
|
rs148142853
|
0.00012
|
NM_000019.3(ACAT1):c.*397C>T
|
rs568860814
|
0.00011
|
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)
|
rs200955062
|
0.00011
|
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)
|
rs377359610
|
0.00011
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)
|
rs139051724
|
0.00011
|
NM_001081.4(CUBN):c.1926C>T (p.Asp642=)
|
rs201938886
|
0.00011
|
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala)
|
rs748823977
|
0.00011
|
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile)
|
rs143291127
|
0.00011
|
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His)
|
rs184746130
|
0.00011
|
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=)
|
rs200124646
|
0.00011
|
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)
|
rs141518662
|
0.00011
|
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala)
|
rs201953109
|
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.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_001609.4(ACADSB):c.960A>T (p.Ile320=)
|
rs147531541
|
0.00011
|
NM_001698.3(AUH):c.926A>C (p.Glu309Ala)
|
rs749713024
|
0.00011
|
NM_002225.5(IVD):c.*2001G>A
|
rs185013442
|
0.00011
|
NM_002225.5(IVD):c.961T>C (p.Leu321=)
|
rs146011049
|
0.00011
|
NM_014384.3(ACAD8):c.887G>A (p.Arg296Gln)
|
rs775062752
|
0.00011
|
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys)
|
rs201758122
|
0.00011
|
NM_022132.5(MCCC2):c.*941A>G
|
rs537387461
|
0.00011
|
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr)
|
rs371374378
|
0.00011
|
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp)
|
rs140220101
|
0.00011
|
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser)
|
rs371336335
|
0.00011
|
NM_052845.4(MMAB):c.*1689C>T
|
rs886093880
|
0.00011
|
NM_052845.4(MMAB):c.*3074C>T
|
rs186602321
|
0.00011
|
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)
|
rs753816946
|
0.00010
|
NM_000255.4(MMUT):c.2022C>T (p.Leu674=)
|
rs772652266
|
0.00010
|
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser)
|
rs149293297
|
0.00010
|
NM_000282.4(PCCA):c.1519G>A (p.Val507Met)
|
rs146061036
|
0.00010
|
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val)
|
rs376383373
|
0.00010
|
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser)
|
rs151078515
|
0.00010
|
NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter)
|
rs762180740
|
0.00010
|
NM_001081.4(CUBN):c.*786T>C
|
rs886046853
|
0.00010
|
NM_001081.4(CUBN):c.10641G>A (p.Arg3547=)
|
rs145909413
|
0.00010
|
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp)
|
rs1276708
|
0.00010
|
NM_001243279.3(ACSF3):c.1127-5T>C
|
rs200245960
|
0.00010
|
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)
|
rs368696141
|
0.00010
|
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
|
rs146762466
|
0.00010
|
NM_001352514.2(HLCS):c.*1594A>G
|
rs776064678
|
0.00010
|
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)
|
rs137877018
|
0.00010
|
NM_001609.4(ACADSB):c.*2085C>T
|
rs766980366
|
0.00010
|
NM_001609.4(ACADSB):c.725C>T (p.Pro242Leu)
|
rs143736049
|
0.00010
|
NM_001698.3(AUH):c.*218_*219del
|
rs1057515675
|
0.00010
|
NM_001698.3(AUH):c.679G>A (p.Ala227Thr)
|
rs141700491
|
0.00010
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)
|
rs782727601
|
0.00010
|
NM_014384.3(ACAD8):c.567+12C>T
|
rs375812492
|
0.00010
|
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)
|
rs202189863
|
0.00010
|
NM_018368.4(LMBRD1):c.*384A>C
|
rs536469891
|
0.00010
|
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr)
|
rs376081191
|
0.00010
|
NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser)
|
rs201745589
|
0.00010
|
NM_022132.5(MCCC2):c.*260T>A
|
rs886060739
|
0.00010
|
NM_022132.5(MCCC2):c.*856C>T
|
rs886060744
|
0.00010
|
NM_025136.4(OPA3):c.*5258A>G
|
rs886054512
|
0.00010
|
NM_052845.4(MMAB):c.*2503G>A
|
rs886048916
|
0.00010
|
NM_052845.4(MMAB):c.*509C>T
|
rs886048923
|
0.00010
|
NM_000019.3(ACAT1):c.*344T>C
|
rs776705661
|
0.00009
|
NM_000255.4(MMUT):c.*1184T>C
|
rs745494100
|
0.00009
|
NM_000255.4(MMUT):c.*1252T>C
|
rs781039564
|
0.00009
|
NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala)
|
rs759407117
|
0.00009
|
NM_000282.4(PCCA):c.36C>T (p.Val12=)
|
rs375516917
|
0.00009
|
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=)
|
rs191375566
|
0.00009
|
NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn)
|
rs145661638
|
0.00009
|
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe)
|
rs754645310
|
0.00009
|
NM_001081.4(CUBN):c.1111+5T>C
|
rs199662739
|
0.00009
|
NM_001081.4(CUBN):c.2483G>A (p.Arg828His)
|
rs199527884
|
0.00009
|
NM_001081.4(CUBN):c.536G>T (p.Gly179Val)
|
rs370373276
|
0.00009
|
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=)
|
rs181991723
|
0.00009
|
NM_001081.4(CUBN):c.614C>T (p.Thr205Met)
|
rs374652141
|
0.00009
|
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser)
|
rs766855509
|
0.00009
|
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val)
|
rs376118603
|
0.00009
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val)
|
rs545886514
|
0.00009
|
NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr)
|
rs144411003
|
0.00009
|
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=)
|
rs150374081
|
0.00009
|
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
|
rs766600801
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys)
|
rs776535574
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001609.4(ACADSB):c.*323G>A
|
rs886046785
|
0.00009
|
NM_001698.3(AUH):c.*237G>A
|
rs933932318
|
0.00009
|
NM_001698.3(AUH):c.20C>T (p.Ala7Val)
|
rs863223911
|
0.00009
|
NM_001698.3(AUH):c.998C>T (p.Pro333Leu)
|
rs541546111
|
0.00009
|
NM_002225.5(IVD):c.*123G>A
|
rs536728525
|
0.00009
|
NM_002225.5(IVD):c.*2205C>T
|
rs185128282
|
0.00009
|
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val)
|
rs368445200
|
0.00009
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
NM_014362.4(HIBCH):c.1036G>A (p.Val346Ile)
|
rs367938014
|
0.00009
|
NM_014384.3(ACAD8):c.*82G>C
|
rs964955100
|
0.00009
|
NM_014384.3(ACAD8):c.110-9T>C
|
rs371550147
|
0.00009
|
NM_014384.3(ACAD8):c.481A>G (p.Thr161Ala)
|
rs186756646
|
0.00009
|
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)
|
rs199641732
|
0.00009
|
NM_015702.3(MMADHC):c.-16A>G
|
rs144111552
|
0.00009
|
NM_018368.4(LMBRD1):c.*26A>G
|
rs758279877
|
0.00009
|
NM_020166.5(MCCC1):c.294C>T (p.Ile98=)
|
rs368288499
|
0.00009
|
NM_022132.5(MCCC2):c.*1272A>G
|
rs772502944
|
0.00009
|
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile)
|
rs144631139
|
0.00009
|
NM_025136.4(OPA3):c.*1863T>G
|
rs769185702
|
0.00009
|
NM_025136.4(OPA3):c.*4773A>G
|
rs1409082190
|
0.00009
|
NM_025136.4(OPA3):c.*5496C>T
|
rs886054511
|
0.00009
|
NM_030813.6(CLPB):c.653G>C (p.Gly218Ala)
|
rs377766896
|
0.00009
|
NM_032861.4(SERAC1):c.583C>T (p.Pro195Ser)
|
rs546374310
|
0.00009
|
NM_052845.4(MMAB):c.*301C>T
|
rs1053960970
|
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.*2808G>A
|
rs543019315
|
0.00009
|
NM_172250.3(MMAA):c.*4539T>G
|
rs558703264
|
0.00009
|
NM_172250.3(MMAA):c.440-6C>T
|
rs374784209
|
0.00009
|
NM_172250.3(MMAA):c.7A>G (p.Met3Val)
|
rs527340737
|
0.00009
|
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)
|
rs374795215
|
0.00009
|
NM_000019.4(ACAT1):c.91C>T (p.Arg31Trp)
|
rs199952982
|
0.00008
|
NM_000255.4(MMUT):c.*200A>T
|
rs886061556
|
0.00008
|
NM_000282.4(PCCA):c.1289G>A (p.Arg430Gln)
|
rs187346936
|
0.00008
|
NM_000282.4(PCCA):c.1840G>A (p.Val614Ile)
|
rs201570336
|
0.00008
|
NM_000282.4(PCCA):c.490A>G (p.Ile164Val)
|
rs539693612
|
0.00008
|
NM_000532.5(PCCB):c.561C>T (p.Ser187=)
|
rs145057852
|
0.00008
|
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser)
|
rs200330356
|
0.00008
|
NM_001081.4(CUBN):c.10838G>A (p.Arg3613His)
|
rs148626202
|
0.00008
|
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala)
|
rs748933632
|
0.00008
|
NM_001081.4(CUBN):c.2446+11A>G
|
rs372125740
|
0.00008
|
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg)
|
rs771763775
|
0.00008
|
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=)
|
rs200977290
|
0.00008
|
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg)
|
rs140883483
|
0.00008
|
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=)
|
rs144942741
|
0.00008
|
NM_001352514.2(HLCS):c.*1085G>A
|
rs531457233
|
0.00008
|
NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln)
|
rs373822815
|
0.00008
|
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)
|
rs200327983
|
0.00008
|
NM_001609.4(ACADSB):c.*2060G>A
|
rs886046795
|
0.00008
|
NM_001609.4(ACADSB):c.1213C>T (p.Arg405Ter)
|
rs200154326
|
0.00008
|
NM_001609.4(ACADSB):c.202G>T (p.Val68Phe)
|
rs144894218
|
0.00008
|
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
|
rs373327413
|
0.00008
|
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln)
|
rs200185893
|
0.00008
|
NM_014384.3(ACAD8):c.*266T>A
|
rs762508631
|
0.00008
|
NM_014384.3(ACAD8):c.841+9C>T
|
rs777635296
|
0.00008
|
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr)
|
rs143758103
|
0.00008
|
NM_025136.4(OPA3):c.*3644C>T
|
rs914226398
|
0.00008
|
NM_025136.4(OPA3):c.*4521G>A
|
rs886054521
|
0.00008
|
NM_025136.4(OPA3):c.*5873C>T
|
rs886054509
|
0.00008
|
NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly)
|
rs370340688
|
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_172250.3(MMAA):c.1078C>T (p.Arg360Trp)
|
rs6812252
|
0.00008
|
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr)
|
rs201183545
|
0.00007
|
NM_000019.4(ACAT1):c.239-8T>A
|
rs202030208
|
0.00007
|
NM_000116.5(TAFAZZIN):c.*618A>G
|
rs781924638
|
0.00007
|
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile)
|
rs538620811
|
0.00007
|
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)
|
rs541001298
|
0.00007
|
NM_000532.5(PCCB):c.8C>T (p.Ala3Val)
|
rs373685372
|
0.00007
|
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu)
|
rs150358307
|
0.00007
|
NM_001081.4(CUBN):c.1715A>T (p.His572Leu)
|
rs368231433
|
0.00007
|
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys)
|
rs763563422
|
0.00007
|
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=)
|
rs147772422
|
0.00007
|
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln)
|
rs749462295
|
0.00007
|
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=)
|
rs138758085
|
0.00007
|
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu)
|
rs575118918
|
0.00007
|
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=)
|
rs377258631
|
0.00007
|
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)
|
rs148348845
|
0.00007
|
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr)
|
rs759448696
|
0.00007
|
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val)
|
rs148768970
|
0.00007
|
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe)
|
rs139361195
|
0.00007
|
NM_001258392.3(CLPB):c.610A>G (p.Lys204Glu)
|
rs538184539
|
0.00007
|
NM_001352514.2(HLCS):c.*2416C>T
|
rs566088233
|
0.00007
|
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile)
|
rs145648338
|
0.00007
|
NM_001370658.1(BTD):c.-65G>T
|
rs199516128
|
0.00007
|
NM_001609.4(ACADSB):c.*1865C>T
|
rs1389294187
|
0.00007
|
NM_005050.4(ABCD4):c.425+6C>T
|
rs368213518
|
0.00007
|
NM_014384.3(ACAD8):c.455T>C (p.Met152Thr)
|
rs121908418
|
0.00007
|
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr)
|
rs142507365
|
0.00007
|
NM_025136.4(OPA3):c.*6361G>A
|
rs1020767023
|
0.00007
|
NM_025136.4(OPA3):c.*821A>T
|
rs886054536
|
0.00007
|
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
|
rs769048646
|
0.00007
|
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu)
|
rs138708209
|
0.00007
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe)
|
rs150895111
|
0.00007
|
NM_145261.4(DNAJC19):c.*488G>C
|
rs576646391
|
0.00007
|
NM_172250.3(MMAA):c.977G>A (p.Arg326His)
|
rs201547892
|
0.00007
|
NM_000019.3(ACAT1):c.*384A>C
|
rs916588276
|
0.00006
|
NM_000019.4(ACAT1):c.-5C>T
|
rs747790910
|
0.00006
|
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)
|
rs367713788
|
0.00006
|
NM_000019.4(ACAT1):c.85G>T (p.Val29Leu)
|
rs764142914
|
0.00006
|
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
|
rs372169445
|
0.00006
|
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp)
|
rs372689133
|
0.00006
|
NM_000191.3(HMGCL):c.*414G>A
|
rs886046310
|
0.00006
|
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile)
|
rs142942001
|
0.00006
|
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=)
|
rs139799938
|
0.00006
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
NM_000255.4(MMUT):c.*281G>A
|
rs144168425
|
0.00006
|
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys)
|
rs746274670
|
0.00006
|
NM_000255.4(MMUT):c.912G>A (p.Arg304=)
|
rs201311681
|
0.00006
|
NM_000282.4(PCCA):c.522G>A (p.Met174Ile)
|
rs780406346
|
0.00006
|
NM_000532.5(PCCB):c.554C>T (p.Thr185Met)
|
rs369612150
|
0.00006
|
NM_000532.5(PCCB):c.641C>T (p.Thr214Met)
|
rs375740942
|
0.00006
|
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser)
|
rs778955184
|
0.00006
|
NM_000532.5(PCCB):c.744G>C (p.Lys248Asn)
|
rs757845027
|
0.00006
|
NM_000532.5(PCCB):c.818A>T (p.Asp273Val)
|
rs765749691
|
0.00006
|
NM_001081.4(CUBN):c.*298G>A
|
rs529415832
|
0.00006
|
NM_001081.4(CUBN):c.*416G>A
|
rs886046856
|
0.00006
|
NM_001081.4(CUBN):c.165G>A (p.Thr55=)
|
rs370127775
|
0.00006
|
NM_001081.4(CUBN):c.2120G>A (p.Arg707His)
|
rs763524933
|
0.00006
|
NM_001081.4(CUBN):c.2610A>G (p.Glu870=)
|
rs143471343
|
0.00006
|
NM_001081.4(CUBN):c.348+10A>G
|
rs373954000
|
0.00006
|
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp)
|
rs781180388
|
0.00006
|
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val)
|
rs200593316
|
0.00006
|
NM_001081.4(CUBN):c.735C>T (p.Cys245=)
|
rs766772944
|
0.00006
|
NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu)
|
rs755819982
|
0.00006
|
NM_001081.4(CUBN):c.879A>G (p.Pro293=)
|
rs142466038
|
0.00006
|
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn)
|
rs202189846
|
0.00006
|
NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn)
|
rs774006607
|
0.00006
|
NM_001258392.3(CLPB):c.1247G>T (p.Cys416Phe)
|
rs559592563
|
0.00006
|
NM_001258392.3(CLPB):c.1978C>T (p.Arg660Cys)
|
rs140963713
|
0.00006
|
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
|
rs773028492
|
0.00006
|
NM_001352514.2(HLCS):c.*168G>T
|
rs118099059
|
0.00006
|
NM_001352514.2(HLCS):c.*3253C>T
|
rs529403596
|
0.00006
|
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=)
|
rs548505968
|
0.00006
|
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=)
|
rs150263699
|
0.00006
|
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
|
rs150431185
|
0.00006
|
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys)
|
rs770633850
|
0.00006
|
NM_001609.4(ACADSB):c.*2548G>T
|
rs545467732
|
0.00006
|
NM_001609.4(ACADSB):c.*2581A>C
|
rs779662230
|
0.00006
|
NM_001609.4(ACADSB):c.1015G>A (p.Val339Met)
|
rs150034487
|
0.00006
|
NM_001698.3(AUH):c.1004G>A (p.Arg335His)
|
rs529693736
|
0.00006
|
NM_002225.5(IVD):c.490A>G (p.Met164Val)
|
rs574434706
|
0.00006
|
NM_002225.5(IVD):c.784+13G>A
|
rs369694967
|
0.00006
|
NM_014384.3(ACAD8):c.*238G>C
|
rs886048026
|
0.00006
|
NM_014384.3(ACAD8):c.1154A>G (p.Gln385Arg)
|
rs367996531
|
0.00006
|
NM_014384.3(ACAD8):c.207G>A (p.Gln69=)
|
rs199868020
|
0.00006
|
NM_014384.3(ACAD8):c.985G>A (p.Ala329Thr)
|
rs751260935
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_015702.3(MMADHC):c.*241A>G
|
rs528409808
|
0.00006
|
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser)
|
rs767542742
|
0.00006
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr)
|
rs375328924
|
0.00006
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
|
rs980145400
|
0.00006
|
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
|
rs554554993
|
0.00006
|
NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His)
|
rs373241693
|
0.00006
|
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His)
|
rs146689034
|
0.00006
|
NM_020166.5(MCCC1):c.1474C>T (p.His492Tyr)
|
rs371795972
|
0.00006
|
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met)
|
rs762639338
|
0.00006
|
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)
|
rs200651846
|
0.00006
|
NM_022132.5(MCCC2):c.*1354C>T
|
rs538509005
|
0.00006
|
NM_022132.5(MCCC2):c.*699T>C
|
rs886060741
|
0.00006
|
NM_022132.5(MCCC2):c.417C>T (p.Thr139=)
|
rs367635502
|
0.00006
|
NM_025136.4(OPA3):c.*2545G>A
|
rs886054528
|
0.00006
|
NM_025136.4(OPA3):c.*4233G>A
|
rs576081836
|
0.00006
|
NM_025136.4(OPA3):c.*4585C>T
|
rs886054520
|
0.00006
|
NM_025136.4(OPA3):c.*4618G>A
|
rs1165606483
|
0.00006
|
NM_025136.4(OPA3):c.*5277G>A
|
rs535986790
|
0.00006
|
NM_025136.4(OPA3):c.*6278G>A
|
rs886054507
|
0.00006
|
NM_025136.4(OPA3):c.428C>T (p.Ala143Val)
|
rs553598004
|
0.00006
|
NM_030813.6(CLPB):c.670C>T (p.Arg224Trp)
|
rs149056885
|
0.00006
|
NM_030813.6(CLPB):c.735C>T (p.Gly245=)
|
rs201151763
|
0.00006
|
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe)
|
rs537530231
|
0.00006
|
NM_052845.4(MMAB):c.*1683G>A
|
rs572832766
|
0.00006
|
NM_052845.4(MMAB):c.*335G>A
|
rs745373257
|
0.00006
|
NM_052845.4(MMAB):c.*691A>C
|
rs886048922
|
0.00006
|
NM_052845.4(MMAB):c.150G>A (p.Ser50=)
|
rs754357121
|
0.00006
|
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu)
|
rs764683053
|
0.00006
|
NM_052845.4(MMAB):c.256G>A (p.Val86Met)
|
rs143935056
|
0.00006
|
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn)
|
rs925180956
|
0.00006
|
NM_145261.4(DNAJC19):c.280+5G>C
|
rs762722601
|
0.00006
|
NM_172250.3(MMAA):c.*2645C>T
|
rs568954220
|
0.00006
|
NM_172250.3(MMAA):c.*4228T>C
|
rs533826043
|
0.00006
|
NM_172250.3(MMAA):c.-69G>T
|
rs886059086
|
0.00006
|
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr)
|
rs777459994
|
0.00006
|
NM_172250.3(MMAA):c.850G>C (p.Asp284His)
|
rs758654806
|
0.00006
|
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)
|
rs142126209
|
0.00006
|
NM_172250.3(MMAA):c.947G>A (p.Arg316His)
|
rs377228966
|
0.00006
|
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)
|
rs764674778
|
0.00005
|
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr)
|
rs146306707
|
0.00005
|
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val)
|
rs147752765
|
0.00005
|
NM_000191.3(HMGCL):c.720A>G (p.Gln240=)
|
rs911190800
|
0.00005
|
NM_000191.3(HMGCL):c.76A>G (p.Met26Val)
|
rs756958205
|
0.00005
|
NM_000255.4(MMUT):c.-47G>A
|
rs909215931
|
0.00005
|
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg)
|
rs78150750
|
0.00005
|
NM_000282.4(PCCA):c.1154A>G (p.Lys385Arg)
|
rs192543675
|
0.00005
|
NM_000282.4(PCCA):c.945G>A (p.Ala315=)
|
rs373115130
|
0.00005
|
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile)
|
rs145135400
|
0.00005
|
NM_001001563.5(TIMM50):c.1033C>T (p.Arg345Cys)
|
rs137968278
|
0.00005
|
NM_001081.4(CUBN):c.*195T>C
|
rs886046859
|
0.00005
|
NM_001081.4(CUBN):c.*470T>C
|
rs886046855
|
0.00005
|
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val)
|
rs767333853
|
0.00005
|
NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu)
|
rs556303931
|
0.00005
|
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser)
|
rs776471095
|
0.00005
|
NM_001081.4(CUBN):c.1230C>T (p.Ile410=)
|
rs144627803
|
0.00005
|
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile)
|
rs141874896
|
0.00005
|
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=)
|
rs199763912
|
0.00005
|
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser)
|
rs201251467
|
0.00005
|
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe)
|
rs201294291
|
0.00005
|
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg)
|
rs532968940
|
0.00005
|
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met)
|
rs201958183
|
0.00005
|
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu)
|
rs780364085
|
0.00005
|
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His)
|
rs745633046
|
0.00005
|
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)
|
rs570233664
|
0.00005
|
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)
|
rs200299650
|
0.00005
|
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln)
|
rs374538248
|
0.00005
|
NM_001352514.2(HLCS):c.*1756C>T
|
rs748180401
|
0.00005
|
NM_001352514.2(HLCS):c.*1953A>G
|
rs767162730
|
0.00005
|
NM_001352514.2(HLCS):c.*2945C>T
|
rs71332549
|
0.00005
|
NM_001352514.2(HLCS):c.*490C>T
|
rs376741921
|
0.00005
|
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile)
|
rs200629955
|
0.00005
|
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)
|
rs759178651
|
0.00005
|
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu)
|
rs536067980
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_001370658.1(BTD):c.847C>T (p.His283Tyr)
|
rs144084212
|
0.00005
|
NM_001609.4(ACADSB):c.1145C>T (p.Thr382Met)
|
rs772084235
|
0.00005
|
NM_001609.4(ACADSB):c.439A>T (p.Asn147Tyr)
|
rs747291865
|
0.00005
|
NM_001698.3(AUH):c.158G>T (p.Gly53Val)
|
rs747819278
|
0.00005
|
NM_001698.3(AUH):c.991A>T (p.Lys331Ter)
|
rs387906757
|
0.00005
|
NM_002225.5(IVD):c.*1172C>T
|
rs532691940
|
0.00005
|
NM_002225.5(IVD):c.*1884G>A
|
rs1325854341
|
0.00005
|
NM_002225.5(IVD):c.832A>C (p.Ser278Arg)
|
rs552272986
|
0.00005
|
NM_005050.4(ABCD4):c.1028+5G>A
|
rs533842238
|
0.00005
|
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)
|
rs141808601
|
0.00005
|
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser)
|
rs538521064
|
0.00005
|
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)
|
rs782310209
|
0.00005
|
NM_014384.3(ACAD8):c.443C>T (p.Pro148Leu)
|
rs374584216
|
0.00005
|
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)
|
rs781133955
|
0.00005
|
NM_018368.4(LMBRD1):c.416C>T (p.Thr139Met)
|
rs767657325
|
0.00005
|
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His)
|
rs142962811
|
0.00005
|
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
|
rs199528231
|
0.00005
|
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr)
|
rs202192191
|
0.00005
|
NM_020166.5(MCCC1):c.230C>T (p.Ala77Val)
|
rs776594363
|
0.00005
|
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr)
|
rs762409158
|
0.00005
|
NM_022132.5(MCCC2):c.*1649C>T
|
rs539578408
|
0.00005
|
NM_022132.5(MCCC2):c.162T>C (p.Asn54=)
|
rs774812912
|
0.00005
|
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
|
rs277995
|
0.00005
|
NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr)
|
rs191457686
|
0.00005
|
NM_025136.4(OPA3):c.*1462C>T
|
rs978328141
|
0.00005
|
NM_025136.4(OPA3):c.*4586G>A
|
rs886054519
|
0.00005
|
NM_025136.4(OPA3):c.*5730C>T
|
rs1308663626
|
0.00005
|
NM_025136.4(OPA3):c.*7018G>C
|
rs557041940
|
0.00005
|
NM_052845.4(MMAB):c.*424G>A
|
rs551461624
|
0.00005
|
NM_052845.4(MMAB):c.346A>G (p.Lys116Glu)
|
rs551289581
|
0.00005
|
NM_052845.4(MMAB):c.44G>A (p.Arg15His)
|
rs367711757
|
0.00005
|
NM_052845.4(MMAB):c.562G>A (p.Val188Met)
|
rs768176676
|
0.00005
|
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
|
rs142070439
|
0.00005
|
NM_172250.3(MMAA):c.*3087A>G
|
rs983988317
|
0.00005
|
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
|
rs199749473
|
0.00005
|
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn)
|
rs778178659
|
0.00005
|
NM_172250.3(MMAA):c.175G>C (p.Asp59His)
|
rs371779800
|
0.00005
|
NM_172250.3(MMAA):c.912G>A (p.Ala304=)
|
rs371769807
|
0.00005
|
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)
|
rs140031911
|
0.00005
|
NM_000019.3(ACAT1):c.*464A>G
|
rs886047602
|
0.00004
|
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met)
|
rs201500937
|
0.00004
|
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)
|
rs772087249
|
0.00004
|
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr)
|
rs370652435
|
0.00004
|
NM_000191.3(HMGCL):c.40G>C (p.Gly14Arg)
|
rs764292245
|
0.00004
|
NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr)
|
rs368688262
|
0.00004
|
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)
|
rs777758512
|
0.00004
|
NM_000255.4(MMUT):c.*445A>G
|
rs1025441665
|
0.00004
|
NM_000255.4(MMUT):c.1607C>T (p.Ala536Val)
|
rs369902876
|
0.00004
|
NM_000255.4(MMUT):c.2084C>T (p.Pro695Leu)
|
rs561197473
|
0.00004
|
NM_000282.4(PCCA):c.1763C>T (p.Ser588Leu)
|
rs532947142
|
0.00004
|
NM_000282.4(PCCA):c.2069T>C (p.Ile690Thr)
|
rs376535469
|
0.00004
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
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_000282.4(PCCA):c.943G>A (p.Ala315Thr)
|
rs759223615
|
0.00004
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
NM_000532.5(PCCB):c.1355A>G (p.Asn452Ser)
|
rs746240889
|
0.00004
|
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
|
rs1353542774
|
0.00004
|
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)
|
rs577625696
|
0.00004
|
NM_000532.5(PCCB):c.163A>G (p.Ile55Val)
|
rs561539546
|
0.00004
|
NM_000532.5(PCCB):c.169G>A (p.Ala57Thr)
|
rs371406048
|
0.00004
|
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu)
|
rs770601332
|
0.00004
|
NM_000532.5(PCCB):c.613G>A (p.Val205Ile)
|
rs141956198
|
0.00004
|
NM_000532.5(PCCB):c.764-3T>C
|
rs147939913
|
0.00004
|
NM_000532.5(PCCB):c.950T>A (p.Val317Glu)
|
rs762758029
|
0.00004
|
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter)
|
rs374175877
|
0.00004
|
NM_001081.3(CUBN):c.-50G>A
|
rs370711661
|
0.00004
|
NM_001081.4(CUBN):c.*597A>C
|
rs569828144
|
0.00004
|
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys)
|
rs776263089
|
0.00004
|
NM_001081.4(CUBN):c.10363-3A>G
|
rs765943248
|
0.00004
|
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe)
|
rs148313915
|
0.00004
|
NM_001081.4(CUBN):c.2013A>G (p.Pro671=)
|
rs137892259
|
0.00004
|
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)
|
rs370770104
|
0.00004
|
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn)
|
rs150277370
|
0.00004
|
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val)
|
rs1290241240
|
0.00004
|
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp)
|
rs146824506
|
0.00004
|
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala)
|
rs748558881
|
0.00004
|
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg)
|
rs772400701
|
0.00004
|
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val)
|
rs946315516
|
0.00004
|
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val)
|
rs772570411
|
0.00004
|
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=)
|
rs373804380
|
0.00004
|
NM_001081.4(CUBN):c.7001-4G>A
|
rs886046871
|
0.00004
|
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala)
|
rs1007248288
|
0.00004
|
NM_001081.4(CUBN):c.8599-8C>T
|
rs199774490
|
0.00004
|
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys)
|
rs142519035
|
0.00004
|
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile)
|
rs201093611
|
0.00004
|
NM_001081.4(CUBN):c.9036G>A (p.Pro3012=)
|
rs576867280
|
0.00004
|
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp)
|
rs749089689
|
0.00004
|
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=)
|
rs199499934
|
0.00004
|
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=)
|
rs141513734
|
0.00004
|
NM_001195087.2(GGACT):c.*1741A>C
|
rs1046827974
|
0.00004
|
NM_001243279.3(ACSF3):c.1084A>T (p.Met362Leu)
|
rs560149696
|
0.00004
|
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His)
|
rs144711526
|
0.00004
|
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=)
|
rs766713747
|
0.00004
|
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met)
|
rs200029061
|
0.00004
|
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
|
rs147538370
|
0.00004
|
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)
|
rs761852278
|
0.00004
|
NM_001243279.3(ACSF3):c.16G>C (p.Val6Leu)
|
rs776314400
|
0.00004
|
NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val)
|
rs142633119
|
0.00004
|
NM_001243279.3(ACSF3):c.1721dup (p.His574fs)
|
rs768886326
|
0.00004
|
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu)
|
rs377732201
|
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.936C>T (p.His312=)
|
rs202119269
|
0.00004
|
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His)
|
rs758613799
|
0.00004
|
NM_001258392.3(CLPB):c.628G>A (p.Gly210Arg)
|
rs756161923
|
0.00004
|
NM_001258392.3(CLPB):c.896G>A (p.Arg299His)
|
rs547532550
|
0.00004
|
NM_001352514.2(HLCS):c.*1089G>A
|
rs146991267
|
0.00004
|
NM_001352514.2(HLCS):c.*1094T>C
|
rs780432651
|
0.00004
|
NM_001352514.2(HLCS):c.*1097G>A
|
rs886057070
|
0.00004
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
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.910C>T (p.Leu304Phe)
|
rs763508196
|
0.00004
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
NM_001370658.1(BTD):c.-38G>A
|
rs138473616
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)
|
rs774052068
|
0.00004
|
NM_001370658.1(BTD):c.261T>G (p.Ile87Met)
|
rs1024847163
|
0.00004
|
NM_001370658.1(BTD):c.49G>A (p.Val17Met)
|
rs772369148
|
0.00004
|
NM_001609.3(ACADSB):c.-39G>A
|
rs886046776
|
0.00004
|
NM_001609.4(ACADSB):c.*1827G>A
|
rs559677030
|
0.00004
|
NM_001609.4(ACADSB):c.*498G>A
|
rs891156805
|
0.00004
|
NM_001609.4(ACADSB):c.-22A>G
|
rs563472823
|
0.00004
|
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met)
|
rs374629804
|
0.00004
|
NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser)
|
rs150022323
|
0.00004
|
NM_001609.4(ACADSB):c.733C>T (p.His245Tyr)
|
rs761098384
|
0.00004
|
NM_001698.3(AUH):c.374G>A (p.Arg125Gln)
|
rs137939308
|
0.00004
|
NM_002225.5(IVD):c.*338G>A
|
rs879231133
|
0.00004
|
NM_002225.5(IVD):c.*611T>G
|
rs886051130
|
0.00004
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser)
|
rs150855952
|
0.00004
|
NM_002225.5(IVD):c.52C>T (p.Arg18Trp)
|
rs375138989
|
0.00004
|
NM_005050.4(ABCD4):c.1237G>A (p.Glu413Lys)
|
rs374984401
|
0.00004
|
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)
|
rs969369250
|
0.00004
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
0.00004
|
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu)
|
rs747354548
|
0.00004
|
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys)
|
rs782155408
|
0.00004
|
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile)
|
rs782370174
|
0.00004
|
NM_014384.3(ACAD8):c.*608G>A
|
rs143912522
|
0.00004
|
NM_014384.3(ACAD8):c.*696A>G
|
rs886048029
|
0.00004
|
NM_014384.3(ACAD8):c.1004A>G (p.Asn335Ser)
|
rs768954546
|
0.00004
|
NM_014384.3(ACAD8):c.110-13A>G
|
rs369626260
|
0.00004
|
NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr)
|
rs200234092
|
0.00004
|
NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg)
|
rs371449613
|
0.00004
|
NM_014384.3(ACAD8):c.965T>C (p.Met322Thr)
|
rs577976129
|
0.00004
|
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)
|
rs370229341
|
0.00004
|
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro)
|
rs779575471
|
0.00004
|
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
|
rs745419717
|
0.00004
|
NM_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
0.00004
|
NM_018368.4(LMBRD1):c.101G>A (p.Arg34His)
|
rs150831620
|
0.00004
|
NM_018368.4(LMBRD1):c.119G>A (p.Arg40Gln)
|
rs777374813
|
0.00004
|
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu)
|
rs776133587
|
0.00004
|
NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu)
|
rs373481039
|
0.00004
|
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn)
|
rs370829456
|
0.00004
|
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val)
|
rs772119224
|
0.00004
|
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met)
|
rs150943644
|
0.00004
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=)
|
rs377320336
|
0.00004
|
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)
|
rs143892743
|
0.00004
|
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln)
|
rs780352053
|
0.00004
|
NM_022132.5(MCCC2):c.*378T>A
|
rs535221710
|
0.00004
|
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg)
|
rs753784414
|
0.00004
|
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)
|
rs119103224
|
0.00004
|
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His)
|
rs750965429
|
0.00004
|
NM_022132.5(MCCC2):c.1488+3C>T
|
rs374049769
|
0.00004
|
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu)
|
rs1257849672
|
0.00004
|
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
|
rs768354167
|
0.00004
|
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)
|
rs751970792
|
0.00004
|
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val)
|
rs770437473
|
0.00004
|
NM_022132.5(MCCC2):c.418G>A (p.Val140Ile)
|
rs553444289
|
0.00004
|
NM_025136.4(OPA3):c.*3845C>T
|
rs886054525
|
0.00004
|
NM_025136.4(OPA3):c.*6125G>A
|
rs780617440
|
0.00004
|
NM_025136.4(OPA3):c.*6570G>C
|
rs773109015
|
0.00004
|
NM_025136.4(OPA3):c.*761C>T
|
rs1020788721
|
0.00004
|
NM_025136.4(OPA3):c.*922G>T
|
rs886054535
|
0.00004
|
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu)
|
rs755348694
|
0.00004
|
NM_030813.6(CLPB):c.715T>C (p.Trp239Arg)
|
rs746357833
|
0.00004
|
NM_032861.4(SERAC1):c.1640G>A (p.Arg547His)
|
rs756639108
|
0.00004
|
NM_032861.4(SERAC1):c.1763del (p.Val588fs)
|
rs770661156
|
0.00004
|
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)
|
rs863224200
|
0.00004
|
NM_032861.4(SERAC1):c.524C>T (p.Pro175Leu)
|
rs536508664
|
0.00004
|
NM_032861.4(SERAC1):c.553G>A (p.Glu185Lys)
|
rs543967244
|
0.00004
|
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)
|
rs375757326
|
0.00004
|
NM_032861.4(SERAC1):c.69T>G (p.Ser23Arg)
|
rs754908475
|
0.00004
|
NM_032861.4(SERAC1):c.855A>G (p.Ile285Met)
|
rs745441822
|
0.00004
|
NM_052845.4(MMAB):c.*2679G>C
|
rs546327751
|
0.00004
|
NM_052845.4(MMAB):c.*588C>T
|
rs1214904926
|
0.00004
|
NM_052845.4(MMAB):c.*815T>C
|
rs776724872
|
0.00004
|
NM_052845.4(MMAB):c.326C>T (p.Thr109Ile)
|
rs762404377
|
0.00004
|
NM_052845.4(MMAB):c.349-9G>A
|
rs372577644
|
0.00004
|
NM_052845.4(MMAB):c.35T>C (p.Leu12Pro)
|
rs533819939
|
0.00004
|
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
|
rs756766385
|
0.00004
|
NM_052845.4(MMAB):c.542C>T (p.Ala181Val)
|
rs764164596
|
0.00004
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
NM_145261.4(DNAJC19):c.280+1G>A
|
rs774006022
|
0.00004
|
NM_172250.3(MMAA):c.*1227A>T
|
rs375194713
|
0.00004
|
NM_172250.3(MMAA):c.*1284G>A
|
rs564976817
|
0.00004
|
NM_172250.3(MMAA):c.*2903C>T
|
rs886059110
|
0.00004
|
NM_172250.3(MMAA):c.*3703T>C
|
rs760429837
|
0.00004
|
NM_172250.3(MMAA):c.*4324G>A
|
rs910534961
|
0.00004
|
NM_172250.3(MMAA):c.*890G>A
|
rs771012374
|
0.00004
|
NM_172250.3(MMAA):c.-4G>A
|
rs374109118
|
0.00004
|
NM_172250.3(MMAA):c.440-4G>A
|
rs780768376
|
0.00004
|
NM_172250.3(MMAA):c.610A>G (p.Met204Val)
|
rs370375675
|
0.00004
|
NM_172250.3(MMAA):c.65G>A (p.Arg22Gln)
|
rs375682603
|
0.00004
|
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
|
rs767412638
|
0.00003
|
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)
|
rs754478568
|
0.00003
|
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala)
|
rs752592672
|
0.00003
|
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val)
|
rs1282394804
|
0.00003
|
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)
|
rs1223065368
|
0.00003
|
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)
|
rs375151766
|
0.00003
|
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln)
|
rs782653725
|
0.00003
|
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)
|
rs782498694
|
0.00003
|
NM_000191.3(HMGCL):c.349-3C>A
|
rs777476731
|
0.00003
|
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
|
rs746968587
|
0.00003
|
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp)
|
rs759745527
|
0.00003
|
NM_000255.4(MMUT):c.*1214C>A
|
rs886061551
|
0.00003
|
NM_000255.4(MMUT):c.*691T>C
|
rs886061554
|
0.00003
|
NM_000255.4(MMUT):c.1094A>G (p.Asn365Ser)
|
rs1196513317
|
0.00003
|
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln)
|
rs774457503
|
0.00003
|
NM_000255.4(MMUT):c.1614C>T (p.Thr538=)
|
rs766999822
|
0.00003
|
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu)
|
rs1057518979
|
0.00003
|
NM_000255.4(MMUT):c.598A>G (p.Ile200Val)
|
rs772104231
|
0.00003
|
NM_000282.4(PCCA):c.130T>C (p.Cys44Arg)
|
rs905391740
|
0.00003
|
NM_000282.4(PCCA):c.1342A>G (p.Met448Val)
|
rs767060690
|
0.00003
|
NM_000282.4(PCCA):c.1457G>A (p.Arg486Gln)
|
rs183239835
|
0.00003
|
NM_000282.4(PCCA):c.1730A>G (p.Asn577Ser)
|
rs887791543
|
0.00003
|
NM_000282.4(PCCA):c.1929C>T (p.Ala643=)
|
rs772945583
|
0.00003
|
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)
|
rs145428347
|
0.00003
|
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys)
|
rs200710812
|
0.00003
|
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del)
|
rs1316778844
|
0.00003
|
NM_000282.4(PCCA):c.2T>C (p.Met1Thr)
|
rs372093520
|
0.00003
|
NM_000282.4(PCCA):c.65C>T (p.Pro22Leu)
|
rs773397570
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000282.4(PCCA):c.803G>A (p.Arg268His)
|
rs368047060
|
0.00003
|
NM_000532.5(PCCB):c.1312G>T (p.Ala438Ser)
|
rs752758930
|
0.00003
|
NM_000532.5(PCCB):c.1511A>C (p.Asp504Ala)
|
rs1027171385
|
0.00003
|
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly)
|
rs1422527852
|
0.00003
|
NM_000532.5(PCCB):c.475A>G (p.Asn159Asp)
|
rs373189621
|
0.00003
|
NM_000532.5(PCCB):c.862G>C (p.Val288Leu)
|
rs201984177
|
0.00003
|
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys)
|
rs771935604
|
0.00003
|
NM_000532.5(PCCB):c.890G>A (p.Arg297His)
|
rs147379583
|
0.00003
|
NM_000532.5(PCCB):c.988T>G (p.Phe330Val)
|
rs748708704
|
0.00003
|
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter)
|
rs759861826
|
0.00003
|
NM_001081.4(CUBN):c.*15G>A
|
rs751434522
|
0.00003
|
NM_001081.4(CUBN):c.*297C>T
|
rs886046857
|
0.00003
|
NM_001081.4(CUBN):c.*373G>T
|
rs780298022
|
0.00003
|
NM_001081.4(CUBN):c.*669C>T
|
rs992917155
|
0.00003
|
NM_001081.4(CUBN):c.*81C>A
|
rs886046861
|
0.00003
|
NM_001081.4(CUBN):c.1653C>T (p.Ser551=)
|
rs372499101
|
0.00003
|
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser)
|
rs200658389
|
0.00003
|
NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg)
|
rs141274853
|
0.00003
|
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys)
|
rs368224687
|
0.00003
|
NM_001081.4(CUBN):c.387+13C>T
|
rs766779196
|
0.00003
|
NM_001081.4(CUBN):c.6180G>A (p.Gly2060=)
|
rs534571792
|
0.00003
|
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser)
|
rs759351780
|
0.00003
|
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile)
|
rs374628341
|
0.00003
|
NM_001081.4(CUBN):c.736G>A (p.Val246Ile)
|
rs760990753
|
0.00003
|
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys)
|
rs757744293
|
0.00003
|
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=)
|
rs151303316
|
0.00003
|
NM_001081.4(CUBN):c.8502G>A (p.Thr2834=)
|
rs749545791
|
0.00003
|
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu)
|
rs147160034
|
0.00003
|
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=)
|
rs375187216
|
0.00003
|
NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln)
|
rs751551226
|
0.00003
|
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)
|
rs754161182
|
0.00003
|
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)
|
rs200352879
|
0.00003
|
NM_001258392.3(CLPB):c.1692G>T (p.Arg564Ser)
|
rs778761751
|
0.00003
|
NM_001258392.3(CLPB):c.1786-3C>T
|
rs372126133
|
0.00003
|
NM_001258392.3(CLPB):c.890G>A (p.Arg297Gln)
|
rs762784246
|
0.00003
|
NM_001352514.2(HLCS):c.*1581T>C
|
rs886057069
|
0.00003
|
NM_001352514.2(HLCS):c.*1761_*1762del
|
rs886057067
|
0.00003
|
NM_001352514.2(HLCS):c.*334A>G
|
rs886057073
|
0.00003
|
NM_001352514.2(HLCS):c.*779A>T
|
rs886057072
|
0.00003
|
NM_001352514.2(HLCS):c.*985C>A
|
rs886057071
|
0.00003
|
NM_001352514.2(HLCS):c.1122A>C (p.Glu374Asp)
|
rs780469041
|
0.00003
|
NM_001352514.2(HLCS):c.1237A>C (p.Thr413Pro)
|
rs747122714
|
0.00003
|
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly)
|
rs778061862
|
0.00003
|
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
|
rs556454789
|
0.00003
|
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
|
rs147495853
|
0.00003
|
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly)
|
rs886057080
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
|
rs140014588
|
0.00003
|
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
|
rs534858065
|
0.00003
|
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn)
|
rs148426470
|
0.00003
|
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)
|
rs397514400
|
0.00003
|
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)
|
rs371116229
|
0.00003
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)
|
rs200337373
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001609.4(ACADSB):c.*3431C>G
|
rs886046800
|
0.00003
|
NM_001609.4(ACADSB):c.*59G>A
|
rs886046784
|
0.00003
|
NM_001609.4(ACADSB):c.*6A>G
|
rs530087761
|
0.00003
|
NM_001609.4(ACADSB):c.*973A>G
|
rs886046786
|
0.00003
|
NM_001609.4(ACADSB):c.1128+3A>T
|
rs760423996
|
0.00003
|
NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile)
|
rs760585344
|
0.00003
|
NM_001609.4(ACADSB):c.1186A>G (p.Lys396Glu)
|
rs199963793
|
0.00003
|
NM_001609.4(ACADSB):c.176A>G (p.Asp59Gly)
|
rs1375520384
|
0.00003
|
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
|
rs770933347
|
0.00003
|
NM_001698.3(AUH):c.746A>G (p.Lys249Arg)
|
rs752072326
|
0.00003
|
NM_002225.3(IVD):c.-237G>C
|
rs749128466
|
0.00003
|
NM_002225.5(IVD):c.*699G>A
|
rs1039225701
|
0.00003
|
NM_002225.5(IVD):c.1001T>C (p.Met334Thr)
|
rs368041528
|
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.334A>T (p.Met112Leu)
|
rs772021923
|
0.00003
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
0.00003
|
NM_002225.5(IVD):c.895C>G (p.Leu299Val)
|
rs149247895
|
0.00003
|
NM_005050.4(ABCD4):c.1172G>A (p.Arg391Gln)
|
rs747987460
|
0.00003
|
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)
|
rs1439756712
|
0.00003
|
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)
|
rs782013532
|
0.00003
|
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
|
rs371874117
|
0.00003
|
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)
|
rs1252960661
|
0.00003
|
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=)
|
rs146145710
|
0.00003
|
NM_014384.3(ACAD8):c.730C>T (p.Arg244Ter)
|
rs746960051
|
0.00003
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
NM_015702.3(MMADHC):c.*267T>C
|
rs546054980
|
0.00003
|
NM_018368.4(LMBRD1):c.1144A>G (p.Met382Val)
|
rs561540830
|
0.00003
|
NM_018368.4(LMBRD1):c.277A>G (p.Ile93Val)
|
rs771282181
|
0.00003
|
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
0.00003
|
NM_018368.4(LMBRD1):c.545A>G (p.Glu182Gly)
|
rs759703455
|
0.00003
|
NM_020166.5(MCCC1):c.1262G>A (p.Arg421Gln)
|
rs761249521
|
0.00003
|
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr)
|
rs768011454
|
0.00003
|
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
|
rs182830931
|
0.00003
|
NM_020166.5(MCCC1):c.2015A>G (p.Asp672Gly)
|
rs992786696
|
0.00003
|
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
|
rs776138490
|
0.00003
|
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro)
|
rs757362635
|
0.00003
|
NM_020166.5(MCCC1):c.873G>A (p.Ala291=)
|
rs138794621
|
0.00003
|
NM_022132.5(MCCC2):c.*1539G>T
|
rs1031741545
|
0.00003
|
NM_022132.5(MCCC2):c.*719del
|
rs886060742
|
0.00003
|
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=)
|
rs749406136
|
0.00003
|
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)
|
rs201238842
|
0.00003
|
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln)
|
rs767326357
|
0.00003
|
NM_022132.5(MCCC2):c.637A>G (p.Met213Val)
|
rs769875413
|
0.00003
|
NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys)
|
rs549784997
|
0.00003
|
NM_022132.5(MCCC2):c.864G>A (p.Arg288=)
|
rs368236133
|
0.00003
|
NM_025136.4(OPA3):c.*1214G>A
|
rs368652706
|
0.00003
|
NM_025136.4(OPA3):c.*1693C>T
|
rs904110306
|
0.00003
|
NM_025136.4(OPA3):c.*2089T>C
|
rs886054529
|
0.00003
|
NM_025136.4(OPA3):c.*3128C>G
|
rs143702010
|
0.00003
|
NM_025136.4(OPA3):c.*3754C>T
|
rs981647131
|
0.00003
|
NM_025136.4(OPA3):c.143-5C>A
|
rs770452409
|
0.00003
|
NM_025136.4(OPA3):c.526G>A (p.Ala176Thr)
|
rs755841329
|
0.00003
|
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met)
|
rs779852958
|
0.00003
|
NM_032861.4(SERAC1):c.1828+3A>G
|
rs773193644
|
0.00003
|
NM_032861.4(SERAC1):c.329C>T (p.Ala110Val)
|
rs368403843
|
0.00003
|
NM_052845.4(MMAB):c.*1428C>T
|
rs757325398
|
0.00003
|
NM_052845.4(MMAB):c.*2739C>T
|
rs759550993
|
0.00003
|
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu)
|
rs765917146
|
0.00003
|
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
|
rs573706523
|
0.00003
|
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu)
|
rs771053425
|
0.00003
|
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu)
|
rs368584846
|
0.00003
|
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys)
|
rs199853576
|
0.00003
|
NM_052845.4(MMAB):c.732G>A (p.Ser244=)
|
rs186864802
|
0.00003
|
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His)
|
rs756192515
|
0.00003
|
NM_172250.3(MMAA):c.*1273C>T
|
rs1001420347
|
0.00003
|
NM_172250.3(MMAA):c.*1779T>C
|
rs886059097
|
0.00003
|
NM_172250.3(MMAA):c.*1940T>C
|
rs1054381866
|
0.00003
|
NM_172250.3(MMAA):c.*3801A>G
|
rs886059116
|
0.00003
|
NM_172250.3(MMAA):c.*4457A>G
|
rs896375111
|
0.00003
|
NM_172250.3(MMAA):c.-71G>C
|
rs992491091
|
0.00003
|
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln)
|
rs144389160
|
0.00003
|
NM_000019.3(ACAT1):c.*365C>T
|
rs145398051
|
0.00002
|
NM_000019.3(ACAT1):c.*393A>G
|
rs886047601
|
0.00002
|
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)
|
rs794727893
|
0.00002
|
NM_000019.4(ACAT1):c.776T>C (p.Val259Ala)
|
rs746059964
|
0.00002
|
NM_000019.4(ACAT1):c.990A>G (p.Val330=)
|
rs764361167
|
0.00002
|
NM_000116.5(TAFAZZIN):c.*33G>A
|
rs782129745
|
0.00002
|
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)
|
rs397515737
|
0.00002
|
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys)
|
rs794729166
|
0.00002
|
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His)
|
rs782196269
|
0.00002
|
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)
|
rs200405157
|
0.00002
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val)
|
rs782240044
|
0.00002
|
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val)
|
rs782401618
|
0.00002
|
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile)
|
rs782173851
|
0.00002
|
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp)
|
rs781893396
|
0.00002
|
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys)
|
rs926124671
|
0.00002
|
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly)
|
rs782746355
|
0.00002
|
NM_000191.2(HMGCL):c.-41G>C
|
rs886046315
|
0.00002
|
NM_000191.3(HMGCL):c.*366G>A
|
rs1470010250
|
0.00002
|
NM_000191.3(HMGCL):c.184A>G (p.Met62Val)
|
rs373738626
|
0.00002
|
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)
|
rs121964996
|
0.00002
|
NM_000191.3(HMGCL):c.374T>G (p.Val125Gly)
|
rs905961108
|
0.00002
|
NM_000191.3(HMGCL):c.404C>T (p.Thr135Ile)
|
rs370010993
|
0.00002
|
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu)
|
rs377359510
|
0.00002
|
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)
|
rs764039230
|
0.00002
|
NM_000191.3(HMGCL):c.583A>G (p.Met195Val)
|
rs764360500
|
0.00002
|
NM_000191.3(HMGCL):c.733A>T (p.Thr245Ser)
|
rs764926275
|
0.00002
|
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile)
|
rs761468576
|
0.00002
|
NM_000191.3(HMGCL):c.828G>A (p.Leu276=)
|
rs771024022
|
0.00002
|
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys)
|
rs760718889
|
0.00002
|
NM_000255.4(MMUT):c.161A>G (p.Lys54Arg)
|
rs559152765
|
0.00002
|
NM_000255.4(MMUT):c.227G>A (p.Arg76Lys)
|
rs1252414363
|
0.00002
|
NM_000255.4(MMUT):c.431G>A (p.Arg144His)
|
rs776621768
|
0.00002
|
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
|
rs548833871
|
0.00002
|
NM_000282.4(PCCA):c.1430G>A (p.Gly477Asp)
|
rs776355907
|
0.00002
|
NM_000282.4(PCCA):c.146G>A (p.Arg49His)
|
rs570674073
|
0.00002
|
NM_000282.4(PCCA):c.2150C>T (p.Thr717Ile)
|
rs548026367
|
0.00002
|
NM_000282.4(PCCA):c.50G>A (p.Arg17His)
|
rs768914819
|
0.00002
|
NM_000282.4(PCCA):c.526G>A (p.Asp176Asn)
|
rs1047690554
|
0.00002
|
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala)
|
rs766245108
|
0.00002
|
NM_000282.4(PCCA):c.61C>T (p.Pro21Ser)
|
rs369743452
|
0.00002
|
NM_000282.4(PCCA):c.638-5G>A
|
rs764316702
|
0.00002
|
NM_000282.4(PCCA):c.717-4A>G
|
rs1046922650
|
0.00002
|
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)
|
rs773749632
|
0.00002
|
NM_000282.4(PCCA):c.946A>T (p.Met316Leu)
|
rs200311920
|
0.00002
|
NM_000282.4(PCCA):c.955C>G (p.Gln319Glu)
|
rs750840362
|
0.00002
|
NM_000532.5(PCCB):c.-35G>A
|
rs886058016
|
0.00002
|
NM_000532.5(PCCB):c.1132G>A (p.Val378Ile)
|
rs761529521
|
0.00002
|
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln)
|
rs375014273
|
0.00002
|
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr)
|
rs542389615
|
0.00002
|
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)
|
rs372770908
|
0.00002
|
NM_000532.5(PCCB):c.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
NM_000532.5(PCCB):c.543G>C (p.Leu181=)
|
rs777868289
|
0.00002
|
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser)
|
rs371155999
|
0.00002
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)
|
rs549397464
|
0.00002
|
NM_001081.4(CUBN):c.*564G>C
|
rs184284227
|
0.00002
|
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln)
|
rs780837561
|
0.00002
|
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly)
|
rs768104200
|
0.00002
|
NM_001081.4(CUBN):c.4375T>G (p.Ser1459Ala)
|
rs886046875
|
0.00002
|
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser)
|
rs1025505410
|
0.00002
|
NM_001081.4(CUBN):c.4811G>T (p.Gly1604Val)
|
rs751110627
|
0.00002
|
NM_001081.4(CUBN):c.483G>A (p.Gln161=)
|
rs371508247
|
0.00002
|
NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr)
|
rs770772474
|
0.00002
|
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val)
|
rs556462218
|
0.00002
|
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=)
|
rs576557890
|
0.00002
|
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala)
|
rs558369938
|
0.00002
|
NM_001081.4(CUBN):c.8254G>T (p.Gly2752Cys)
|
rs747786939
|
0.00002
|
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=)
|
rs200808196
|
0.00002
|
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr)
|
rs544783535
|
0.00002
|
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)
|
rs563580010
|
0.00002
|
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)
|
rs747338200
|
0.00002
|
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn)
|
rs145969050
|
0.00002
|
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)
|
rs901081235
|
0.00002
|
NM_001243279.3(ACSF3):c.480C>T (p.Val160=)
|
rs375671065
|
0.00002
|
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn)
|
rs893057489
|
0.00002
|
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu)
|
rs746582120
|
0.00002
|
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys)
|
rs369380599
|
0.00002
|
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His)
|
rs760399999
|
0.00002
|
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys)
|
rs748289105
|
0.00002
|
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His)
|
rs765245566
|
0.00002
|
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
|
rs758376345
|
0.00002
|
NM_001258392.3(CLPB):c.266G>A (p.Gly89Glu)
|
rs374729211
|
0.00002
|
NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala)
|
rs777039470
|
0.00002
|
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser)
|
rs549191970
|
0.00002
|
NM_001258392.3(CLPB):c.692G>A (p.Arg231His)
|
rs772243585
|
0.00002
|
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr)
|
rs779228307
|
0.00002
|
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu)
|
rs139268876
|
0.00002
|
NM_001258392.3(CLPB):c.73A>G (p.Thr25Ala)
|
rs760759093
|
0.00002
|
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe)
|
rs368150943
|
0.00002
|
NM_001258392.3(CLPB):c.914G>A (p.Arg305His)
|
rs529206633
|
0.00002
|
NM_001352514.2(HLCS):c.*1071G>A
|
rs987334114
|
0.00002
|
NM_001352514.2(HLCS):c.*14C>T
|
rs778616712
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.1810C>T (p.Arg604Cys)
|
rs547391411
|
0.00002
|
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr)
|
rs777373322
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=)
|
rs760265551
|
0.00002
|
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr)
|
rs376898721
|
0.00002
|
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser)
|
rs773752745
|
0.00002
|
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys)
|
rs145337682
|
0.00002
|
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys)
|
rs778638155
|
0.00002
|
NM_001370658.1(BTD):c.-87G>T
|
rs755119589
|
0.00002
|
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)
|
rs769903360
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001370658.1(BTD):c.1425C>A (p.Ile475=)
|
rs780182371
|
0.00002
|
NM_001370658.1(BTD):c.616A>G (p.Lys206Glu)
|
rs1003975438
|
0.00002
|
NM_001370658.1(BTD):c.635T>G (p.Phe212Cys)
|
rs768097543
|
0.00002
|
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)
|
rs144575084
|
0.00002
|
NM_001609.4(ACADSB):c.*1981G>A
|
rs1267140155
|
0.00002
|
NM_001609.4(ACADSB):c.*263G>A
|
rs1009551388
|
0.00002
|
NM_001609.4(ACADSB):c.*3941C>A
|
rs886046804
|
0.00002
|
NM_001609.4(ACADSB):c.*57G>A
|
rs886046783
|
0.00002
|
NM_001609.4(ACADSB):c.1100C>T (p.Ala367Val)
|
rs745900584
|
0.00002
|
NM_001609.4(ACADSB):c.1184C>T (p.Thr395Ile)
|
rs752034695
|
0.00002
|
NM_001609.4(ACADSB):c.260C>T (p.Ser87Leu)
|
rs745481903
|
0.00002
|
NM_001698.3(AUH):c.655+7G>A
|
rs748099966
|
0.00002
|
NM_001698.3(AUH):c.676C>T (p.Arg226Cys)
|
rs148157596
|
0.00002
|
NM_001698.3(AUH):c.719C>T (p.Ala240Val)
|
rs769894315
|
0.00002
|
NM_001698.3(AUH):c.722G>A (p.Arg241Gln)
|
rs1269002301
|
0.00002
|
NM_001698.3(AUH):c.850G>A (p.Val284Ile)
|
rs748245565
|
0.00002
|
NM_002225.5(IVD):c.*112G>T
|
rs558721558
|
0.00002
|
NM_002225.5(IVD):c.-8T>C
|
rs566691073
|
0.00002
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
0.00002
|
NM_002225.5(IVD):c.1138+13C>T
|
rs770658726
|
0.00002
|
NM_002225.5(IVD):c.268T>A (p.Leu90Met)
|
rs780854004
|
0.00002
|
NM_002225.5(IVD):c.357C>T (p.Ser119=)
|
rs776924775
|
0.00002
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
|
rs568885234
|
0.00002
|
NM_005050.4(ABCD4):c.1096G>A (p.Glu366Lys)
|
rs771010169
|
0.00002
|
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val)
|
rs763842574
|
0.00002
|
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile)
|
rs764251926
|
0.00002
|
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)
|
rs782010359
|
0.00002
|
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His)
|
rs782325660
|
0.00002
|
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser)
|
rs782399563
|
0.00002
|
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His)
|
rs782138046
|
0.00002
|
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu)
|
rs782560491
|
0.00002
|
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val)
|
rs1002620023
|
0.00002
|
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)
|
rs778434126
|
0.00002
|
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)
|
rs758938066
|
0.00002
|
NM_014384.3(ACAD8):c.1036G>A (p.Asp346Asn)
|
rs150537378
|
0.00002
|
NM_014384.3(ACAD8):c.1133A>C (p.Tyr378Ser)
|
rs779459988
|
0.00002
|
NM_014384.3(ACAD8):c.290G>A (p.Gly97Glu)
|
rs1433228446
|
0.00002
|
NM_014384.3(ACAD8):c.491-6C>T
|
rs772337149
|
0.00002
|
NM_014384.3(ACAD8):c.841+6A>C
|
rs199738913
|
0.00002
|
NM_015506.2(MMACHC):c.-123A>T
|
rs539415170
|
0.00002
|
NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu)
|
rs371004372
|
0.00002
|
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)
|
rs201269886
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_015506.3(MMACHC):c.840del (p.Gly281fs)
|
rs757384010
|
0.00002
|
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys)
|
rs777544556
|
0.00002
|
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg)
|
rs760971849
|
0.00002
|
NM_015702.3(MMADHC):c.697-3C>T
|
rs770272562
|
0.00002
|
NM_015702.3(MMADHC):c.743G>A (p.Arg248His)
|
rs756858861
|
0.00002
|
NM_015702.3(MMADHC):c.800A>G (p.His267Arg)
|
rs753424109
|
0.00002
|
NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr)
|
rs1340799992
|
0.00002
|
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val)
|
rs775365046
|
0.00002
|
NM_018368.4(LMBRD1):c.704T>C (p.Leu235Ser)
|
rs376076271
|
0.00002
|
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu)
|
rs771226867
|
0.00002
|
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln)
|
rs747354714
|
0.00002
|
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
0.00002
|
NM_020166.5(MCCC1):c.1226G>T (p.Arg409Leu)
|
rs371219844
|
0.00002
|
NM_020166.5(MCCC1):c.144C>T (p.Asn48=)
|
rs77681010
|
0.00002
|
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly)
|
rs756076414
|
0.00002
|
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr)
|
rs796051987
|
0.00002
|
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=)
|
rs150835353
|
0.00002
|
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)
|
rs761480737
|
0.00002
|
NM_020166.5(MCCC1):c.262C>T (p.His88Tyr)
|
rs778145370
|
0.00002
|
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)
|
rs375244642
|
0.00002
|
NM_020166.5(MCCC1):c.387C>T (p.Cys129=)
|
rs761110034
|
0.00002
|
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser)
|
rs202197951
|
0.00002
|
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met)
|
rs375326791
|
0.00002
|
NM_020166.5(MCCC1):c.695G>A (p.Arg232Gln)
|
rs148088842
|
0.00002
|
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu)
|
rs202083272
|
0.00002
|
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu)
|
rs753650692
|
0.00002
|
NM_022132.5(MCCC2):c.*659C>T
|
rs886060740
|
0.00002
|
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala)
|
rs752139859
|
0.00002
|
NM_022132.5(MCCC2):c.129+3A>G
|
rs1352606118
|
0.00002
|
NM_022132.5(MCCC2):c.1334A>G (p.Tyr445Cys)
|
rs145475202
|
0.00002
|
NM_022132.5(MCCC2):c.1488+10del
|
rs767400522
|
0.00002
|
NM_022132.5(MCCC2):c.1665G>T (p.Lys555Asn)
|
rs771011115
|
0.00002
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
NM_025136.4(OPA3):c.*1095C>A
|
rs148228876
|
0.00002
|
NM_025136.4(OPA3):c.*420A>G
|
rs868102539
|
0.00002
|
NM_025136.4(OPA3):c.*4439C>T
|
rs538388889
|
0.00002
|
NM_025136.4(OPA3):c.*5644A>G
|
rs1393651897
|
0.00002
|
NM_025136.4(OPA3):c.*5783G>A
|
rs550679720
|
0.00002
|
NM_025136.4(OPA3):c.*6124C>T
|
rs1389766474
|
0.00002
|
NM_025136.4(OPA3):c.*964G>A
|
rs1969350328
|
0.00002
|
NM_025136.4(OPA3):c.15G>C (p.Ala5=)
|
rs763315476
|
0.00002
|
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr)
|
rs186796646
|
0.00002
|
NM_030943.4(AMN):c.1324G>A (p.Val442Ile)
|
rs760175392
|
0.00002
|
NM_032861.4(SERAC1):c.1270A>G (p.Met424Val)
|
rs367903368
|
0.00002
|
NM_032861.4(SERAC1):c.1309-19T>G
|
rs372001660
|
0.00002
|
NM_032861.4(SERAC1):c.1642T>C (p.Tyr548His)
|
rs1331741437
|
0.00002
|
NM_032861.4(SERAC1):c.1846C>A (p.Leu616Ile)
|
rs780572089
|
0.00002
|
NM_032861.4(SERAC1):c.487+5T>C
|
rs748641688
|
0.00002
|
NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe)
|
rs1449129513
|
0.00002
|
NM_052845.4(MMAB):c.*1747A>G
|
rs886048917
|
0.00002
|
NM_052845.4(MMAB):c.*2619A>T
|
rs778528128
|
0.00002
|
NM_052845.4(MMAB):c.*2783G>A
|
rs1012338830
|
0.00002
|
NM_052845.4(MMAB):c.*2890C>T
|
rs1005573398
|
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.373G>A (p.Gly125Ser)
|
rs193015172
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_052845.4(MMAB):c.589G>T (p.Val197Leu)
|
rs780166156
|
0.00002
|
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)
|
rs767706407
|
0.00002
|
NM_145261.4(DNAJC19):c.129+6A>G
|
rs192629594
|
0.00002
|
NM_145261.4(DNAJC19):c.1A>G (p.Met1Val)
|
rs372756221
|
0.00002
|
NM_145261.4(DNAJC19):c.83A>G (p.His28Arg)
|
rs776130966
|
0.00002
|
NM_172250.3(MMAA):c.*152A>G
|
rs749564150
|
0.00002
|
NM_172250.3(MMAA):c.*1918G>A
|
rs755382235
|
0.00002
|
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)
|
rs772082690
|
0.00002
|
NM_172250.3(MMAA):c.746C>T (p.Ser249Leu)
|
rs746853773
|
0.00002
|
NM_172250.3(MMAA):c.904A>T (p.Ile302Leu)
|
rs369128670
|
0.00002
|
NM_000019.3(ACAT1):c.*291A>C
|
rs771132416
|
0.00001
|
NM_000019.3(ACAT1):c.*591A>T
|
rs886047604
|
0.00001
|
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)
|
rs377295639
|
0.00001
|
NM_000019.4(ACAT1):c.1191T>C (p.His397=)
|
rs1439617035
|
0.00001
|
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)
|
rs761086326
|
0.00001
|
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
|
rs748749897
|
0.00001
|
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
|
rs763375578
|
0.00001
|
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
|
rs151080188
|
0.00001
|
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
|
rs757128075
|
0.00001
|
NM_000019.4(ACAT1):c.210T>G (p.Ile70Met)
|
rs1465674363
|
0.00001
|
NM_000019.4(ACAT1):c.229G>A (p.Glu77Lys)
|
rs772848693
|
0.00001
|
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
|
rs536301499
|
0.00001
|
NM_000019.4(ACAT1):c.421A>T (p.Met141Leu)
|
rs750876321
|
0.00001
|
NM_000019.4(ACAT1):c.422T>C (p.Met141Thr)
|
rs758930842
|
0.00001
|
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)
|
rs120074148
|
0.00001
|
NM_000019.4(ACAT1):c.43C>T (p.Arg15Cys)
|
rs757688736
|
0.00001
|
NM_000019.4(ACAT1):c.489G>T (p.Met163Ile)
|
rs778705529
|
0.00001
|
NM_000019.4(ACAT1):c.532T>C (p.Leu178=)
|
rs370063325
|
0.00001
|
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)
|
rs915506786
|
0.00001
|
NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys)
|
rs2077588609
|
0.00001
|
NM_000019.4(ACAT1):c.902C>T (p.Ala301Val)
|
rs747860630
|
0.00001
|
NM_000019.4(ACAT1):c.914A>G (p.Asn305Ser)
|
rs562043215
|
0.00001
|
NM_000019.4(ACAT1):c.959T>C (p.Val320Ala)
|
rs1184689716
|
0.00001
|
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His)
|
rs977521848
|
0.00001
|
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys)
|
rs376769286
|
0.00001
|
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu)
|
rs1557192022
|
0.00001
|
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile)
|
rs727503454
|
0.00001
|
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val)
|
rs2068413364
|
0.00001
|
NM_000116.5(TAFAZZIN):c.460+1G>A
|
rs878853655
|
0.00001
|
NM_000116.5(TAFAZZIN):c.460+5G>A
|
rs1325571965
|
0.00001
|
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala)
|
rs397515744
|
0.00001
|
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu)
|
rs1557193924
|
0.00001
|
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His)
|
rs371236390
|
0.00001
|
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His)
|
rs782655300
|
0.00001
|
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe)
|
rs782523340
|
0.00001
|
NM_000191.3(HMGCL):c.*388G>A
|
rs145874467
|
0.00001
|
NM_000191.3(HMGCL):c.347C>T (p.Ala116Val)
|
rs368145582
|
0.00001
|
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu)
|
rs1570650181
|
0.00001
|
NM_000191.3(HMGCL):c.497+4A>G
|
rs568718845
|
0.00001
|
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=)
|
rs200189529
|
0.00001
|
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile)
|
rs759288306
|
0.00001
|
NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg)
|
rs747529727
|
0.00001
|
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)
|
rs1303119110
|
0.00001
|
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)
|
rs760106433
|
0.00001
|
NM_000191.3(HMGCL):c.624G>A (p.Val208=)
|
rs747724373
|
0.00001
|
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)
|
rs990313450
|
0.00001
|
NM_000191.3(HMGCL):c.766G>A (p.Val256Met)
|
rs764238653
|
0.00001
|
NM_000191.3(HMGCL):c.787C>A (p.Leu263Ile)
|
rs1025294353
|
0.00001
|
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg)
|
rs757884073
|
0.00001
|
NM_000191.3(HMGCL):c.800C>G (p.Pro267Arg)
|
rs750347526
|
0.00001
|
NM_000191.3(HMGCL):c.820G>A (p.Gly274Arg)
|
rs1391067821
|
0.00001
|
NM_000255.4(MMUT):c.*103A>G
|
rs886061558
|
0.00001
|
NM_000255.4(MMUT):c.*1319C>T
|
rs541645779
|
0.00001
|
NM_000255.4(MMUT):c.*636T>A
|
rs1262925761
|
0.00001
|
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser)
|
rs563776413
|
0.00001
|
NM_000255.4(MMUT):c.1261G>A (p.Val421Met)
|
rs746763824
|
0.00001
|
NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln)
|
rs147737629
|
0.00001
|
NM_000255.4(MMUT):c.1519A>G (p.Asn507Asp)
|
rs769270504
|
0.00001
|
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp)
|
rs886061559
|
0.00001
|
NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys)
|
rs770978452
|
0.00001
|
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly)
|
rs200055428
|
0.00001
|
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala)
|
rs569669261
|
0.00001
|
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu)
|
rs575038087
|
0.00001
|
NM_000255.4(MMUT):c.1970T>C (p.Val657Ala)
|
rs1767102899
|
0.00001
|
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
NM_000255.4(MMUT):c.235A>G (p.Met79Val)
|
rs751177187
|
0.00001
|
NM_000255.4(MMUT):c.359A>G (p.Asn120Ser)
|
rs776108716
|
0.00001
|
NM_000255.4(MMUT):c.406G>A (p.Val136Ile)
|
rs1767739165
|
0.00001
|
NM_000255.4(MMUT):c.422C>T (p.Ala141Val)
|
rs565348836
|
0.00001
|
NM_000255.4(MMUT):c.499G>A (p.Val167Met)
|
rs755709278
|
0.00001
|
NM_000255.4(MMUT):c.556A>G (p.Met186Val)
|
rs148331800
|
0.00001
|
NM_000255.4(MMUT):c.87G>A (p.Gln29=)
|
rs886061560
|
0.00001
|
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile)
|
rs547709692
|
0.00001
|
NM_000282.4(PCCA):c.1112A>G (p.Gln371Arg)
|
rs752995083
|
0.00001
|
NM_000282.4(PCCA):c.1123C>T (p.Arg375Cys)
|
rs758588772
|
0.00001
|
NM_000282.4(PCCA):c.1124G>A (p.Arg375His)
|
rs778042583
|
0.00001
|
NM_000282.4(PCCA):c.1217A>G (p.Tyr406Cys)
|
rs981962098
|
0.00001
|
NM_000282.4(PCCA):c.1291G>A (p.Val431Met)
|
rs1464775522
|
0.00001
|
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val)
|
rs776355907
|
0.00001
|
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr)
|
rs1349455848
|
0.00001
|
NM_000282.4(PCCA):c.1477C>T (p.Arg493Cys)
|
rs753955254
|
0.00001
|
NM_000282.4(PCCA):c.1540+5G>C
|
rs371430625
|
0.00001
|
NM_000282.4(PCCA):c.155G>A (p.Gly52Asp)
|
rs755553674
|
0.00001
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000282.4(PCCA):c.1615A>G (p.Arg539Gly)
|
rs2071094349
|
0.00001
|
NM_000282.4(PCCA):c.1647G>A (p.Met549Ile)
|
rs759831592
|
0.00001
|
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu)
|
rs755890592
|
0.00001
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.1756G>T (p.Asp586Tyr)
|
rs2079091190
|
0.00001
|
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys)
|
rs778065877
|
0.00001
|
NM_000282.4(PCCA):c.1801C>T (p.Pro601Ser)
|
rs752459931
|
0.00001
|
NM_000282.4(PCCA):c.1808T>C (p.Leu603Ser)
|
rs1427313509
|
0.00001
|
NM_000282.4(PCCA):c.1828A>T (p.Thr610Ser)
|
rs749767976
|
0.00001
|
NM_000282.4(PCCA):c.1879A>G (p.Ile627Val)
|
rs1163083290
|
0.00001
|
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)
|
rs1400179119
|
0.00001
|
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)
|
rs796052018
|
0.00001
|
NM_000282.4(PCCA):c.1894A>G (p.Thr632Ala)
|
rs376313696
|
0.00001
|
NM_000282.4(PCCA):c.1910A>G (p.Asn637Ser)
|
rs149772960
|
0.00001
|
NM_000282.4(PCCA):c.1968G>T (p.Glu656Asp)
|
rs891469566
|
0.00001
|
NM_000282.4(PCCA):c.1976G>A (p.Ser659Asn)
|
rs764651081
|
0.00001
|
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)
|
rs999241357
|
0.00001
|
NM_000282.4(PCCA):c.202G>A (p.Val68Ile)
|
rs768750176
|
0.00001
|
NM_000282.4(PCCA):c.2038G>A (p.Ala680Thr)
|
rs201570489
|
0.00001
|
NM_000282.4(PCCA):c.2173G>A (p.Val725Met)
|
rs747593363
|
0.00001
|
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)
|
rs794727479
|
0.00001
|
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)
|
rs1387778734
|
0.00001
|
NM_000282.4(PCCA):c.297T>G (p.Ser99Arg)
|
rs1203679401
|
0.00001
|
NM_000282.4(PCCA):c.2dup (p.Met1fs)
|
rs1179536678
|
0.00001
|
NM_000282.4(PCCA):c.376G>A (p.Ala126Thr)
|
rs1482878054
|
0.00001
|
NM_000282.4(PCCA):c.432A>G (p.Gly144=)
|
rs768756825
|
0.00001
|
NM_000282.4(PCCA):c.469G>T (p.Ala157Ser)
|
rs772068496
|
0.00001
|
NM_000282.4(PCCA):c.472G>T (p.Ala158Ser)
|
rs773032396
|
0.00001
|
NM_000282.4(PCCA):c.484G>A (p.Val162Ile)
|
rs1442819667
|
0.00001
|
NM_000282.4(PCCA):c.54G>A (p.Gly18=)
|
rs1373903905
|
0.00001
|
NM_000282.4(PCCA):c.62C>T (p.Pro21Leu)
|
rs1367928921
|
0.00001
|
NM_000282.4(PCCA):c.681A>C (p.Lys227Asn)
|
rs749118295
|
0.00001
|
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)
|
rs778530330
|
0.00001
|
NM_000282.4(PCCA):c.68A>C (p.Gln23Pro)
|
rs1566436392
|
0.00001
|
NM_000282.4(PCCA):c.704A>G (p.Asp235Gly)
|
rs760244758
|
0.00001
|
NM_000282.4(PCCA):c.709G>A (p.Glu237Lys)
|
rs770371734
|
0.00001
|
NM_000282.4(PCCA):c.762C>T (p.Gly254=)
|
rs758211858
|
0.00001
|
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu)
|
rs769286299
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
NM_000282.4(PCCA):c.914+3A>G
|
rs749376990
|
0.00001
|
NM_000282.4(PCCA):c.970G>T (p.Ala324Ser)
|
rs749617899
|
0.00001
|
NM_000411.8(HLCS):c.-393+7C>T
|
rs886057081
|
0.00001
|
NM_000532.5(PCCB):c.1022T>C (p.Ile341Thr)
|
rs757258397
|
0.00001
|
NM_000532.5(PCCB):c.1043A>G (p.Asn348Ser)
|
rs747309318
|
0.00001
|
NM_000532.5(PCCB):c.1140C>G (p.Phe380Leu)
|
rs1277882976
|
0.00001
|
NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly)
|
rs201138170
|
0.00001
|
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr)
|
rs182412270
|
0.00001
|
NM_000532.5(PCCB):c.1199-8A>G
|
rs886058019
|
0.00001
|
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly)
|
rs770279302
|
0.00001
|
NM_000532.5(PCCB):c.128G>A (p.Arg43His)
|
rs1941481863
|
0.00001
|
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn)
|
rs774942448
|
0.00001
|
NM_000532.5(PCCB):c.130C>T (p.Arg44Trp)
|
rs749210374
|
0.00001
|
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile)
|
rs1301343613
|
0.00001
|
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val)
|
rs376998134
|
0.00001
|
NM_000532.5(PCCB):c.1384G>A (p.Val462Ile)
|
rs796052026
|
0.00001
|
NM_000532.5(PCCB):c.139C>G (p.Leu47Val)
|
rs199935380
|
0.00001
|
NM_000532.5(PCCB):c.143T>G (p.Leu48Arg)
|
rs1368586445
|
0.00001
|
NM_000532.5(PCCB):c.1444G>T (p.Ala482Ser)
|
rs752000929
|
0.00001
|
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His)
|
rs143190442
|
0.00001
|
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser)
|
rs1935428949
|
0.00001
|
NM_000532.5(PCCB):c.1502T>C (p.Phe501Ser)
|
rs1483082276
|
0.00001
|
NM_000532.5(PCCB):c.1504G>A (p.Val502Met)
|
rs763024986
|
0.00001
|
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln)
|
rs909550005
|
0.00001
|
NM_000532.5(PCCB):c.183+12_183+31dup
|
rs745694339
|
0.00001
|
NM_000532.5(PCCB):c.263A>G (p.His88Arg)
|
rs771333669
|
0.00001
|
NM_000532.5(PCCB):c.305T>G (p.Phe102Cys)
|
rs1248879007
|
0.00001
|
NM_000532.5(PCCB):c.31G>C (p.Gly11Arg)
|
rs757860152
|
0.00001
|
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
|
rs757534748
|
0.00001
|
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys)
|
rs1941477030
|
0.00001
|
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser)
|
rs1468203736
|
0.00001
|
NM_000532.5(PCCB):c.46G>T (p.Val16Phe)
|
rs780842004
|
0.00001
|
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)
|
rs754752068
|
0.00001
|
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)
|
rs796052024
|
0.00001
|
NM_000532.5(PCCB):c.580T>G (p.Ser194Ala)
|
rs1237531952
|
0.00001
|
NM_000532.5(PCCB):c.583C>G (p.Leu195Val)
|
rs747267484
|
0.00001
|
NM_000532.5(PCCB):c.646A>G (p.Met216Val)
|
rs747252352
|
0.00001
|
NM_000532.5(PCCB):c.654+14G>T
|
rs1457950469
|
0.00001
|
NM_000532.5(PCCB):c.67G>A (p.Ala23Thr)
|
rs772483250
|
0.00001
|
NM_000532.5(PCCB):c.719C>T (p.Thr240Ile)
|
rs762986402
|
0.00001
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000532.5(PCCB):c.743A>G (p.Lys248Arg)
|
rs1365706286
|
0.00001
|
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile)
|
rs779581071
|
0.00001
|
NM_000532.5(PCCB):c.758T>C (p.Met253Thr)
|
rs747881252
|
0.00001
|
NM_000532.5(PCCB):c.788A>G (p.Asn263Ser)
|
rs749071200
|
0.00001
|
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)
|
rs375999824
|
0.00001
|
NM_000532.5(PCCB):c.86G>T (p.Cys29Phe)
|
rs765843410
|
0.00001
|
NM_000532.5(PCCB):c.876C>G (p.His292Gln)
|
rs776893713
|
0.00001
|
NM_000532.5(PCCB):c.907G>C (p.Asp303His)
|
rs943266027
|
0.00001
|
NM_000532.5(PCCB):c.920C>T (p.Pro307Leu)
|
rs1370289032
|
0.00001
|
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp)
|
rs1456890228
|
0.00001
|
NM_000532.5(PCCB):c.944A>G (p.Asn315Ser)
|
rs558836100
|
0.00001
|
NM_000532.5(PCCB):c.966T>C (p.Ser322=)
|
rs1269805994
|
0.00001
|
NM_000532.5(PCCB):c.967-3C>T
|
rs1186569803
|
0.00001
|
NM_000532.5(PCCB):c.979C>T (p.Arg327Cys)
|
rs377660729
|
0.00001
|
NM_001001563.5(TIMM50):c.854-8G>C
|
rs1166132682
|
0.00001
|
NM_001081.4(CUBN):c.*203C>T
|
rs769041830
|
0.00001
|
NM_001081.4(CUBN):c.*281A>G
|
rs886046858
|
0.00001
|
NM_001081.4(CUBN):c.*446A>G
|
rs1315458918
|
0.00001
|
NM_001081.4(CUBN):c.-42G>T
|
rs751905101
|
0.00001
|
NM_001081.4(CUBN):c.10012C>A (p.Gln3338Lys)
|
rs755210947
|
0.00001
|
NM_001081.4(CUBN):c.10181-14A>G
|
rs886046864
|
0.00001
|
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg)
|
rs149517557
|
0.00001
|
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly)
|
rs760807440
|
0.00001
|
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro)
|
rs1177156381
|
0.00001
|
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys)
|
rs563035840
|
0.00001
|
NM_001081.4(CUBN):c.1418-9C>A
|
rs779016475
|
0.00001
|
NM_001081.4(CUBN):c.164C>T (p.Thr55Met)
|
rs774556167
|
0.00001
|
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro)
|
rs751139014
|
0.00001
|
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln)
|
rs770625165
|
0.00001
|
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser)
|
rs866820343
|
0.00001
|
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg)
|
rs770392464
|
0.00001
|
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val)
|
rs775423928
|
0.00001
|
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln)
|
rs755860454
|
0.00001
|
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr)
|
rs572470830
|
0.00001
|
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu)
|
rs757185023
|
0.00001
|
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala)
|
rs778092585
|
0.00001
|
NM_001081.4(CUBN):c.3308A>G (p.Tyr1103Cys)
|
rs760682560
|
0.00001
|
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)
|
rs1037514591
|
0.00001
|
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp)
|
rs773480436
|
0.00001
|
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=)
|
rs138052938
|
0.00001
|
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)
|
rs538984401
|
0.00001
|
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=)
|
rs886046874
|
0.00001
|
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr)
|
rs768182223
|
0.00001
|
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn)
|
rs146438022
|
0.00001
|
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu)
|
rs200277745
|
0.00001
|
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=)
|
rs560009723
|
0.00001
|
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val)
|
rs567146793
|
0.00001
|
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu)
|
rs544059289
|
0.00001
|
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=)
|
rs757609735
|
0.00001
|
NM_001081.4(CUBN):c.6821+3A>G
|
rs767078847
|
0.00001
|
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp)
|
rs150117913
|
0.00001
|
NM_001081.4(CUBN):c.7069T>C (p.Tyr2357His)
|
rs376122892
|
0.00001
|
NM_001081.4(CUBN):c.7070A>C (p.Tyr2357Ser)
|
rs886046870
|
0.00001
|
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile)
|
rs757192279
|
0.00001
|
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln)
|
rs11254274
|
0.00001
|
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr)
|
rs761577575
|
0.00001
|
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val)
|
rs565917798
|
0.00001
|
NM_001081.4(CUBN):c.7533A>C (p.Ile2511=)
|
rs748416223
|
0.00001
|
NM_001081.4(CUBN):c.8095G>A (p.Val2699Met)
|
rs535261179
|
0.00001
|
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn)
|
rs771697506
|
0.00001
|
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys)
|
rs373893072
|
0.00001
|
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser)
|
rs371139445
|
0.00001
|
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met)
|
rs200235278
|
0.00001
|
NM_001081.4(CUBN):c.8908C>T (p.Arg2970Cys)
|
rs562374248
|
0.00001
|
NM_001081.4(CUBN):c.8943C>T (p.Gly2981=)
|
rs767131065
|
0.00001
|
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe)
|
rs1241849194
|
0.00001
|
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=)
|
rs976401499
|
0.00001
|
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser)
|
rs750045664
|
0.00001
|
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=)
|
rs559567467
|
0.00001
|
NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln)
|
rs1358680743
|
0.00001
|
NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu)
|
rs779630954
|
0.00001
|
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)
|
rs1184733927
|
0.00001
|
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)
|
rs142288136
|
0.00001
|
NM_001243279.3(ACSF3):c.1127-7C>G
|
rs761564953
|
0.00001
|
NM_001243279.3(ACSF3):c.1343C>G (p.Thr448Ser)
|
rs554194567
|
0.00001
|
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)
|
rs387907119
|
0.00001
|
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His)
|
rs776369896
|
0.00001
|
NM_001243279.3(ACSF3):c.1495A>C (p.Ile499Leu)
|
rs1272786593
|
0.00001
|
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly)
|
rs780402535
|
0.00001
|
NM_001243279.3(ACSF3):c.221G>A (p.Arg74His)
|
rs750707295
|
0.00001
|
NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp)
|
rs754782061
|
0.00001
|
NM_001243279.3(ACSF3):c.365C>T (p.Ala122Val)
|
rs1441479986
|
0.00001
|
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe)
|
rs774006659
|
0.00001
|
NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr)
|
rs761573352
|
0.00001
|
NM_001243279.3(ACSF3):c.673G>A (p.Gly225Arg)
|
rs775694971
|
0.00001
|
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)
|
rs1975498120
|
0.00001
|
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys)
|
rs765777645
|
0.00001
|
NM_001258392.3(CLPB):c.1123-3C>T
|
rs764474532
|
0.00001
|
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)
|
rs786205137
|
0.00001
|
NM_001258392.3(CLPB):c.1167+6T>C
|
rs748976093
|
0.00001
|
NM_001258392.3(CLPB):c.1197C>T (p.Gly399=)
|
rs1363666590
|
0.00001
|
NM_001258392.3(CLPB):c.1228A>G (p.Thr410Ala)
|
rs1258428897
|
0.00001
|
NM_001258392.3(CLPB):c.1308C>G (p.Ile436Met)
|
rs140355579
|
0.00001
|
NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys)
|
rs536485763
|
0.00001
|
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr)
|
rs770073084
|
0.00001
|
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr)
|
rs372344202
|
0.00001
|
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn)
|
rs778269139
|
0.00001
|
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys)
|
rs748915609
|
0.00001
|
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys)
|
rs773040549
|
0.00001
|
NM_001258392.3(CLPB):c.1469G>A (p.Arg490His)
|
rs568455218
|
0.00001
|
NM_001258392.3(CLPB):c.1477G>A (p.Glu493Lys)
|
rs376835047
|
0.00001
|
NM_001258392.3(CLPB):c.1489G>T (p.Asp497Tyr)
|
rs918777173
|
0.00001
|
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile)
|
rs776356646
|
0.00001
|
NM_001258392.3(CLPB):c.1631C>T (p.Ser544Leu)
|
rs1430716011
|
0.00001
|
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr)
|
rs780169796
|
0.00001
|
NM_001258392.3(CLPB):c.1717C>T (p.Arg573Cys)
|
rs186989806
|
0.00001
|
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser)
|
rs747198658
|
0.00001
|
NM_001258392.3(CLPB):c.1765G>A (p.Ala589Thr)
|
rs1949500581
|
0.00001
|
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln)
|
rs779976853
|
0.00001
|
NM_001258392.3(CLPB):c.1780C>T (p.His594Tyr)
|
rs1442380307
|
0.00001
|
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala)
|
rs1331493457
|
0.00001
|
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val)
|
rs1247332355
|
0.00001
|
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg)
|
rs201668123
|
0.00001
|
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)
|
rs1254521420
|
0.00001
|
NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser)
|
rs567785578
|
0.00001
|
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe)
|
rs1590947700
|
0.00001
|
NM_001258392.3(CLPB):c.254C>T (p.Ala85Val)
|
rs751423546
|
0.00001
|
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)
|
rs960976552
|
0.00001
|
NM_001258392.3(CLPB):c.269G>A (p.Arg90His)
|
rs762324677
|
0.00001
|
NM_001258392.3(CLPB):c.2T>C (p.Met1Thr)
|
rs369149141
|
0.00001
|
NM_001258392.3(CLPB):c.312G>C (p.Trp104Cys)
|
rs747589481
|
0.00001
|
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly)
|
rs1191592329
|
0.00001
|
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly)
|
rs1565107812
|
0.00001
|
NM_001258392.3(CLPB):c.367G>C (p.Val123Leu)
|
rs141495575
|
0.00001
|
NM_001258392.3(CLPB):c.38C>T (p.Ala13Val)
|
rs750927442
|
0.00001
|
NM_001258392.3(CLPB):c.409G>T (p.Ala137Ser)
|
rs1323542690
|
0.00001
|
NM_001258392.3(CLPB):c.456-3T>A
|
rs751918724
|
0.00001
|
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys)
|
rs767714428
|
0.00001
|
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala)
|
rs754211386
|
0.00001
|
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu)
|
rs766759416
|
0.00001
|
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg)
|
rs761122843
|
0.00001
|
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu)
|
rs543347319
|
0.00001
|
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp)
|
rs747344641
|
0.00001
|
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys)
|
rs1199370784
|
0.00001
|
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln)
|
rs751427024
|
0.00001
|
NM_001258392.3(CLPB):c.967G>A (p.Ala323Thr)
|
rs759050719
|
0.00001
|
NM_001287444.2(DCDC2C):c.955-1G>C
|
rs1167362443
|
0.00001
|
NM_001352514.2(HLCS):c.*1766G>A
|
rs537534748
|
0.00001
|
NM_001352514.2(HLCS):c.*2434G>T
|
rs886057062
|
0.00001
|
NM_001352514.2(HLCS):c.*2700C>T
|
rs140135359
|
0.00001
|
NM_001352514.2(HLCS):c.*2847G>A
|
rs1269300334
|
0.00001
|
NM_001352514.2(HLCS):c.*3043A>G
|
rs539444862
|
0.00001
|
NM_001352514.2(HLCS):c.*3209C>T
|
rs886057059
|
0.00001
|
NM_001352514.2(HLCS):c.*448G>C
|
rs772947158
|
0.00001
|
NM_001352514.2(HLCS):c.1192A>G (p.Thr398Ala)
|
rs1259711297
|
0.00001
|
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)
|
rs763927037
|
0.00001
|
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
|
rs148814769
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val)
|
rs772156741
|
0.00001
|
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln)
|
rs886057076
|
0.00001
|
NM_001352514.2(HLCS):c.1951G>A (p.Glu651Lys)
|
rs1035549573
|
0.00001
|
NM_001352514.2(HLCS):c.2076G>A (p.Met692Ile)
|
rs1460453809
|
0.00001
|
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln)
|
rs769446135
|
0.00001
|
NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys)
|
rs1464046978
|
0.00001
|
NM_001352514.2(HLCS):c.2266C>T (p.Pro756Ser)
|
rs1285498636
|
0.00001
|
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)
|
rs1376040224
|
0.00001
|
NM_001352514.2(HLCS):c.2339C>T (p.Ala780Val)
|
rs763760775
|
0.00001
|
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
|
rs748447457
|
0.00001
|
NM_001352514.2(HLCS):c.2443G>A (p.Val815Ile)
|
rs144116568
|
0.00001
|
NM_001352514.2(HLCS):c.2451-1G>A
|
rs1158898827
|
0.00001
|
NM_001352514.2(HLCS):c.2485C>A (p.Pro829Thr)
|
rs1417729542
|
0.00001
|
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala)
|
rs764148793
|
0.00001
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
NM_001352514.2(HLCS):c.2568G>A (p.Pro856=)
|
rs745670538
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001352514.2(HLCS):c.442A>G (p.Met148Val)
|
rs764841449
|
0.00001
|
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys)
|
rs148981273
|
0.00001
|
NM_001352514.2(HLCS):c.494-8T>A
|
rs778287214
|
0.00001
|
NM_001352514.2(HLCS):c.500A>G (p.His167Arg)
|
rs577182758
|
0.00001
|
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu)
|
rs759396333
|
0.00001
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
NM_001352514.2(HLCS):c.723C>A (p.Gly241=)
|
rs886057077
|
0.00001
|
NM_001352514.2(HLCS):c.790A>G (p.Ile264Val)
|
rs1342427477
|
0.00001
|
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=)
|
rs779907293
|
0.00001
|
NM_001352514.2(HLCS):c.970G>A (p.Gly324Ser)
|
rs574778377
|
0.00001
|
NM_001370658.1(BTD):c.*57T>A
|
rs886058118
|
0.00001
|
NM_001370658.1(BTD):c.-59T>A
|
rs768258310
|
0.00001
|
NM_001370658.1(BTD):c.-74G>A
|
rs200884349
|
0.00001
|
NM_001370658.1(BTD):c.1013A>G (p.His338Arg)
|
rs1379845261
|
0.00001
|
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)
|
rs886058115
|
0.00001
|
NM_001370658.1(BTD):c.1051T>C (p.Cys351Arg)
|
rs775369290
|
0.00001
|
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu)
|
rs375239909
|
0.00001
|
NM_001370658.1(BTD):c.1144A>G (p.Asn382Asp)
|
rs147188293
|
0.00001
|
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)
|
rs397514405
|
0.00001
|
NM_001370658.1(BTD):c.1159C>T (p.Pro387Ser)
|
rs777799585
|
0.00001
|
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)
|
rs397514409
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)
|
rs749460715
|
0.00001
|
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)
|
rs397514419
|
0.00001
|
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)
|
rs746099217
|
0.00001
|
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)
|
rs1223614917
|
0.00001
|
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr)
|
rs778785164
|
0.00001
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys)
|
rs747489101
|
0.00001
|
NM_001370658.1(BTD):c.1473G>C (p.Gln491His)
|
rs764375610
|
0.00001
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser)
|
rs397514353
|
0.00001
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)
|
rs397514359
|
0.00001
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)
|
rs397514364
|
0.00001
|
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)
|
rs397514366
|
0.00001
|
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly)
|
rs541012569
|
0.00001
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)
|
rs397514376
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001370658.1(BTD):c.591T>G (p.Phe197Leu)
|
rs767750851
|
0.00001
|
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)
|
rs397514381
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)
|
rs377651057
|
0.00001
|
NM_001370658.1(BTD):c.912C>G (p.Asp304Glu)
|
rs1449860088
|
0.00001
|
NM_001370658.1(BTD):c.917A>G (p.Glu306Gly)
|
rs747059644
|
0.00001
|
NM_001370658.1(BTD):c.944C>T (p.Ala315Val)
|
rs1465883743
|
0.00001
|
NM_001609.4(ACADSB):c.*1942C>T
|
rs886046794
|
0.00001
|
NM_001609.4(ACADSB):c.*4177G>A
|
rs886046806
|
0.00001
|
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr)
|
rs200548567
|
0.00001
|
NM_001609.4(ACADSB):c.1138C>G (p.Gln380Glu)
|
rs748042148
|
0.00001
|
NM_001609.4(ACADSB):c.1154G>A (p.Cys385Tyr)
|
rs1370215763
|
0.00001
|
NM_001609.4(ACADSB):c.1156A>G (p.Ile386Val)
|
rs770827167
|
0.00001
|
NM_001609.4(ACADSB):c.1168G>A (p.Gly390Arg)
|
rs764095189
|
0.00001
|
NM_001609.4(ACADSB):c.1229-15T>G
|
rs371377486
|
0.00001
|
NM_001609.4(ACADSB):c.1271T>C (p.Ile424Thr)
|
rs748926593
|
0.00001
|
NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr)
|
rs1164586012
|
0.00001
|
NM_001609.4(ACADSB):c.219G>A (p.Gln73=)
|
rs756256851
|
0.00001
|
NM_001609.4(ACADSB):c.265A>G (p.Met89Val)
|
rs372537859
|
0.00001
|
NM_001609.4(ACADSB):c.303+3A>G
|
rs1345480688
|
0.00001
|
NM_001609.4(ACADSB):c.512T>G (p.Val171Gly)
|
rs1343737959
|
0.00001
|
NM_001609.4(ACADSB):c.680T>C (p.Ile227Thr)
|
rs755158007
|
0.00001
|
NM_001609.4(ACADSB):c.681+14C>T
|
rs748185849
|
0.00001
|
NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys)
|
rs1266747835
|
0.00001
|
NM_001609.4(ACADSB):c.95T>A (p.Val32Asp)
|
rs751722805
|
0.00001
|
NM_001698.3(AUH):c.1003C>T (p.Arg335Cys)
|
rs772918339
|
0.00001
|
NM_001698.3(AUH):c.25C>G (p.Pro9Ala)
|
rs1461159226
|
0.00001
|
NM_001698.3(AUH):c.305C>T (p.Ser102Leu)
|
rs368115216
|
0.00001
|
NM_001698.3(AUH):c.323T>C (p.Ile108Thr)
|
rs531669666
|
0.00001
|
NM_001698.3(AUH):c.476C>G (p.Ser159Cys)
|
rs1282582845
|
0.00001
|
NM_001698.3(AUH):c.547G>A (p.Ala183Thr)
|
rs548411527
|
0.00001
|
NM_001698.3(AUH):c.56G>T (p.Gly19Val)
|
rs1832891431
|
0.00001
|
NM_001698.3(AUH):c.655+3A>C
|
rs755914350
|
0.00001
|
NM_001698.3(AUH):c.769G>A (p.Val257Ile)
|
rs749920943
|
0.00001
|
NM_001698.3(AUH):c.797C>T (p.Ala266Val)
|
rs570875104
|
0.00001
|
NM_001698.3(AUH):c.84G>T (p.Ala28=)
|
rs1057515676
|
0.00001
|
NM_001698.3(AUH):c.860G>C (p.Arg287Thr)
|
rs1826877739
|
0.00001
|
NM_001698.3(AUH):c.894+9C>A
|
rs1388023086
|
0.00001
|
NM_001698.3(AUH):c.898G>A (p.Asp300Asn)
|
rs746215620
|
0.00001
|
NM_002225.3(IVD):c.-315C>G
|
rs886051126
|
0.00001
|
NM_002225.5(IVD):c.*1090A>G
|
rs1257277262
|
0.00001
|
NM_002225.5(IVD):c.*1117G>A
|
rs886051132
|
0.00001
|
NM_002225.5(IVD):c.*1636G>A
|
rs560135738
|
0.00001
|
NM_002225.5(IVD):c.*196G>A
|
rs1417892978
|
0.00001
|
NM_002225.5(IVD):c.*2005G>A
|
rs886051135
|
0.00001
|
NM_002225.5(IVD):c.*204T>G
|
rs886051127
|
0.00001
|
NM_002225.5(IVD):c.*652C>T
|
rs761306144
|
0.00001
|
NM_002225.5(IVD):c.*798A>G
|
rs1278287842
|
0.00001
|
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)
|
rs776608445
|
0.00001
|
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln)
|
rs139908696
|
0.00001
|
NM_002225.5(IVD):c.1139-3C>G
|
rs367891946
|
0.00001
|
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly)
|
rs1163816425
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)
|
rs763422682
|
0.00001
|
NM_002225.5(IVD):c.124C>G (p.Leu42Val)
|
rs777674887
|
0.00001
|
NM_002225.5(IVD):c.150T>A (p.Arg50=)
|
rs762440985
|
0.00001
|
NM_002225.5(IVD):c.202A>G (p.Ile68Val)
|
rs758926864
|
0.00001
|
NM_002225.5(IVD):c.227A>G (p.Asn76Ser)
|
rs1398705262
|
0.00001
|
NM_002225.5(IVD):c.263G>A (p.Gly88Asp)
|
rs779579351
|
0.00001
|
NM_002225.5(IVD):c.307C>G (p.Leu103Val)
|
rs1465206137
|
0.00001
|
NM_002225.5(IVD):c.436A>G (p.Lys146Glu)
|
rs1448656950
|
0.00001
|
NM_002225.5(IVD):c.456G>A (p.Lys152=)
|
rs886044117
|
0.00001
|
NM_002225.5(IVD):c.464G>A (p.Ser155Asn)
|
rs140182461
|
0.00001
|
NM_002225.5(IVD):c.539C>T (p.Ala180Val)
|
rs559732306
|
0.00001
|
NM_002225.5(IVD):c.710C>T (p.Ser237Phe)
|
rs1891244554
|
0.00001
|
NM_002225.5(IVD):c.726G>C (p.Lys242Asn)
|
rs794727857
|
0.00001
|
NM_002225.5(IVD):c.784+9C>T
|
rs1891254953
|
0.00001
|
NM_002225.5(IVD):c.796C>G (p.Leu266Val)
|
rs766980574
|
0.00001
|
NM_002225.5(IVD):c.803A>G (p.His268Arg)
|
rs201778625
|
0.00001
|
NM_002225.5(IVD):c.833G>C (p.Ser278Thr)
|
rs746615207
|
0.00001
|
NM_002225.5(IVD):c.994C>T (p.Arg332Cys)
|
rs1891643589
|
0.00001
|
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg)
|
rs753577538
|
0.00001
|
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys)
|
rs1446995315
|
0.00001
|
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys)
|
rs201100662
|
0.00001
|
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=)
|
rs546298874
|
0.00001
|
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg)
|
rs759539743
|
0.00001
|
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg)
|
rs1360319567
|
0.00001
|
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)
|
rs555792734
|
0.00001
|
NM_005050.4(ABCD4):c.1609C>A (p.Leu537Ile)
|
rs780846855
|
0.00001
|
NM_005050.4(ABCD4):c.166G>A (p.Val56Met)
|
rs2083804334
|
0.00001
|
NM_005050.4(ABCD4):c.1752+2T>C
|
rs151116417
|
0.00001
|
NM_005050.4(ABCD4):c.1753-18G>A
|
rs772567988
|
0.00001
|
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys)
|
rs773609274
|
0.00001
|
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr)
|
rs371774856
|
0.00001
|
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His)
|
rs1349388678
|
0.00001
|
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp)
|
rs373322009
|
0.00001
|
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
|
rs1410990711
|
0.00001
|
NM_005050.4(ABCD4):c.644A>G (p.Gln215Arg)
|
rs1280841182
|
0.00001
|
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr)
|
rs761053363
|
0.00001
|
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala)
|
rs781937365
|
0.00001
|
NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val)
|
rs781971515
|
0.00001
|
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr)
|
rs782235304
|
0.00001
|
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp)
|
rs1043389387
|
0.00001
|
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala)
|
rs1557113936
|
0.00001
|
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
|
rs1557113656
|
0.00001
|
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
0.00001
|
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)
|
rs1004412459
|
0.00001
|
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)
|
rs782122807
|
0.00001
|
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile)
|
rs935130398
|
0.00001
|
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr)
|
rs1557112927
|
0.00001
|
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val)
|
rs372010656
|
0.00001
|
NM_005334.3(HCFC1):c.503+6G>A
|
rs1048267564
|
0.00001
|
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly)
|
rs1360396448
|
0.00001
|
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg)
|
rs1557112412
|
0.00001
|
NM_014362.4(HIBCH):c.1103C>T (p.Thr368Ile)
|
rs142607404
|
0.00001
|
NM_014362.4(HIBCH):c.145A>G (p.Ile49Val)
|
rs1370340054
|
0.00001
|
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp)
|
rs757976755
|
0.00001
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr)
|
rs1280144449
|
0.00001
|
NM_014384.3(ACAD8):c.*351C>G
|
rs561907589
|
0.00001
|
NM_014384.3(ACAD8):c.1092C>T (p.Ala364=)
|
rs146813391
|
0.00001
|
NM_014384.3(ACAD8):c.233T>C (p.Met78Thr)
|
rs767613745
|
0.00001
|
NM_014384.3(ACAD8):c.250C>G (p.Leu84Val)
|
rs1330918776
|
0.00001
|
NM_014384.3(ACAD8):c.292T>C (p.Ser98Pro)
|
rs773978651
|
0.00001
|
NM_014384.3(ACAD8):c.308T>G (p.Leu103Arg)
|
rs763906092
|
0.00001
|
NM_014384.3(ACAD8):c.326T>C (p.Phe109Ser)
|
rs1939586683
|
0.00001
|
NM_014384.3(ACAD8):c.337G>A (p.Ala113Thr)
|
rs751633406
|
0.00001
|
NM_014384.3(ACAD8):c.380+7G>A
|
rs1335335796
|
0.00001
|
NM_014384.3(ACAD8):c.494G>C (p.Ser165Thr)
|
rs988461205
|
0.00001
|
NM_014384.3(ACAD8):c.525C>T (p.Ser175=)
|
rs142343253
|
0.00001
|
NM_014384.3(ACAD8):c.527C>G (p.Ala176Gly)
|
rs1288285713
|
0.00001
|
NM_014384.3(ACAD8):c.538G>C (p.Gly180Arg)
|
rs367999938
|
0.00001
|
NM_014384.3(ACAD8):c.558T>C (p.Asn186=)
|
rs886048025
|
0.00001
|
NM_014384.3(ACAD8):c.611T>C (p.Met204Thr)
|
rs1939759468
|
0.00001
|
NM_014384.3(ACAD8):c.643A>G (p.Ile215Val)
|
rs151125742
|
0.00001
|
NM_014384.3(ACAD8):c.670A>G (p.Thr224Ala)
|
rs748422726
|
0.00001
|
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val)
|
rs142790411
|
0.00001
|
NM_014384.3(ACAD8):c.842-15G>A
|
rs778257880
|
0.00001
|
NM_014384.3(ACAD8):c.85C>T (p.Arg29Trp)
|
rs1278727402
|
0.00001
|
NM_014384.3(ACAD8):c.948A>G (p.Gln316=)
|
rs148005336
|
0.00001
|
NM_014384.3(ACAD8):c.964A>G (p.Met322Val)
|
rs1167657404
|
0.00001
|
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
|
rs121908420
|
0.00001
|
NM_014384.3(ACAD8):c.99C>T (p.Ser33=)
|
rs886048021
|
0.00001
|
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp)
|
rs780981680
|
0.00001
|
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile)
|
rs772225967
|
0.00001
|
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly)
|
rs1217366809
|
0.00001
|
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)
|
rs187869948
|
0.00001
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
0.00001
|
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala)
|
rs1010232462
|
0.00001
|
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)
|
rs886046368
|
0.00001
|
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys)
|
rs374086070
|
0.00001
|
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)
|
rs759921519
|
0.00001
|
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr)
|
rs1161394470
|
0.00001
|
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
|
rs780926592
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)
|
rs369621922
|
0.00001
|
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp)
|
rs769732556
|
0.00001
|
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr)
|
rs775175927
|
0.00001
|
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)
|
rs755472574
|
0.00001
|
NM_015702.3(MMADHC):c.155-3C>T
|
rs773403678
|
0.00001
|
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly)
|
rs760590651
|
0.00001
|
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly)
|
rs1345924349
|
0.00001
|
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)
|
rs756550492
|
0.00001
|
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr)
|
rs780889876
|
0.00001
|
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)
|
rs544727246
|
0.00001
|
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser)
|
rs766017009
|
0.00001
|
NM_018368.4(LMBRD1):c.1157G>A (p.Arg386Gln)
|
rs772350306
|
0.00001
|
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp)
|
rs748879055
|
0.00001
|
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln)
|
rs886061692
|
0.00001
|
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)
|
rs561265847
|
0.00001
|
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys)
|
rs1364347331
|
0.00001
|
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met)
|
rs771561971
|
0.00001
|
NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys)
|
rs781535724
|
0.00001
|
NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys)
|
rs982934588
|
0.00001
|
NM_018368.4(LMBRD1):c.166A>G (p.Ile56Val)
|
rs765308443
|
0.00001
|
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala)
|
rs201773048
|
0.00001
|
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe)
|
rs1562105981
|
0.00001
|
NM_018368.4(LMBRD1):c.649T>C (p.Ser217Pro)
|
rs1766557026
|
0.00001
|
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala)
|
rs1297619412
|
0.00001
|
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
|
rs747318789
|
0.00001
|
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr)
|
rs752377027
|
0.00001
|
NM_020166.5(MCCC1):c.*90G>A
|
rs894828851
|
0.00001
|
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val)
|
rs965802215
|
0.00001
|
NM_020166.5(MCCC1):c.1127C>T (p.Thr376Ile)
|
rs1714102747
|
0.00001
|
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys)
|
rs1333357031
|
0.00001
|
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser)
|
rs1560224165
|
0.00001
|
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala)
|
rs946293038
|
0.00001
|
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp)
|
rs764744442
|
0.00001
|
NM_020166.5(MCCC1):c.1268-7A>G
|
rs1417892958
|
0.00001
|
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)
|
rs763713221
|
0.00001
|
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)
|
rs375996272
|
0.00001
|
NM_020166.5(MCCC1):c.134C>T (p.Thr45Ile)
|
rs1410294013
|
0.00001
|
NM_020166.5(MCCC1):c.135A>T (p.Thr45=)
|
rs1286585591
|
0.00001
|
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys)
|
rs369847846
|
0.00001
|
NM_020166.5(MCCC1):c.1399A>T (p.Ile467Phe)
|
rs727504003
|
0.00001
|
NM_020166.5(MCCC1):c.1594+6G>C
|
rs777825199
|
0.00001
|
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser)
|
rs1553853001
|
0.00001
|
NM_020166.5(MCCC1):c.1682-3A>G
|
rs760180709
|
0.00001
|
NM_020166.5(MCCC1):c.1682A>G (p.Asn561Ser)
|
rs112307657
|
0.00001
|
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys)
|
rs1577245387
|
0.00001
|
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
|
rs747015041
|
0.00001
|
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg)
|
rs749473644
|
0.00001
|
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=)
|
rs201782543
|
0.00001
|
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
|
rs758827154
|
0.00001
|
NM_020166.5(MCCC1):c.1928A>G (p.Gln643Arg)
|
rs755699519
|
0.00001
|
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu)
|
rs903196916
|
0.00001
|
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)
|
rs750133436
|
0.00001
|
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn)
|
rs774565207
|
0.00001
|
NM_020166.5(MCCC1):c.263A>G (p.His88Arg)
|
rs1352224093
|
0.00001
|
NM_020166.5(MCCC1):c.283G>A (p.Ala95Thr)
|
rs1453501166
|
0.00001
|
NM_020166.5(MCCC1):c.302C>T (p.Ala101Val)
|
rs772547872
|
0.00001
|
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg)
|
rs746430473
|
0.00001
|
NM_020166.5(MCCC1):c.350C>T (p.Ala117Val)
|
rs754963220
|
0.00001
|
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)
|
rs780072787
|
0.00001
|
NM_020166.5(MCCC1):c.491G>A (p.Ser164Asn)
|
rs1055095015
|
0.00001
|
NM_020166.5(MCCC1):c.492-4A>G
|
rs908545297
|
0.00001
|
NM_020166.5(MCCC1):c.596G>T (p.Gly199Val)
|
rs1198116993
|
0.00001
|
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile)
|
rs149268368
|
0.00001
|
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala)
|
rs749287771
|
0.00001
|
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu)
|
rs1248070890
|
0.00001
|
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp)
|
rs727504004
|
0.00001
|
NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn)
|
rs1716633366
|
0.00001
|
NM_020166.5(MCCC1):c.739G>A (p.Glu247Lys)
|
rs952738286
|
0.00001
|
NM_020166.5(MCCC1):c.762G>A (p.Arg254=)
|
rs149389595
|
0.00001
|
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr)
|
rs767642062
|
0.00001
|
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu)
|
rs1164035251
|
0.00001
|
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln)
|
rs754437245
|
0.00001
|
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)
|
rs746500530
|
0.00001
|
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser)
|
rs974953181
|
0.00001
|
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)
|
rs1191355416
|
0.00001
|
NM_022132.5(MCCC2):c.*1144A>G
|
rs886060747
|
0.00001
|
NM_022132.5(MCCC2):c.*6A>G
|
rs1249235767
|
0.00001
|
NM_022132.5(MCCC2):c.*719A>G
|
rs986206032
|
0.00001
|
NM_022132.5(MCCC2):c.*839T>C
|
rs886060743
|
0.00001
|
NM_022132.5(MCCC2):c.*878T>G
|
rs886060745
|
0.00001
|
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg)
|
rs759809368
|
0.00001
|
NM_022132.5(MCCC2):c.1108G>A (p.Val370Ile)
|
rs760363054
|
0.00001
|
NM_022132.5(MCCC2):c.1154C>G (p.Thr385Ser)
|
rs1427630056
|
0.00001
|
NM_022132.5(MCCC2):c.1178A>C (p.Gln393Pro)
|
rs750782118
|
0.00001
|
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)
|
rs758506791
|
0.00001
|
NM_022132.5(MCCC2):c.1313C>A (p.Thr438Asn)
|
rs779770835
|
0.00001
|
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)
|
rs766045910
|
0.00001
|
NM_022132.5(MCCC2):c.1381T>G (p.Phe461Val)
|
rs1747390697
|
0.00001
|
NM_022132.5(MCCC2):c.1388A>G (p.Tyr463Cys)
|
rs778734586
|
0.00001
|
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)
|
rs767575019
|
0.00001
|
NM_022132.5(MCCC2):c.1474C>T (p.Arg492Trp)
|
rs531891095
|
0.00001
|
NM_022132.5(MCCC2):c.147G>C (p.Met49Ile)
|
rs756664143
|
0.00001
|
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)
|
rs745367639
|
0.00001
|
NM_022132.5(MCCC2):c.1574+5G>A
|
rs781483923
|
0.00001
|
NM_022132.5(MCCC2):c.1619T>A (p.Val540Asp)
|
rs766384881
|
0.00001
|
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val)
|
rs778172446
|
0.00001
|
NM_022132.5(MCCC2):c.1653A>G (p.Ala551=)
|
rs749529082
|
0.00001
|
NM_022132.5(MCCC2):c.1688T>C (p.Met563Thr)
|
rs373922744
|
0.00001
|
NM_022132.5(MCCC2):c.258A>G (p.Arg86=)
|
rs550220664
|
0.00001
|
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe)
|
rs748028684
|
0.00001
|
NM_022132.5(MCCC2):c.311C>T (p.Ala104Val)
|
rs771719423
|
0.00001
|
NM_022132.5(MCCC2):c.326A>G (p.Tyr109Cys)
|
rs1450884624
|
0.00001
|
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)
|
rs201872484
|
0.00001
|
NM_022132.5(MCCC2):c.385G>A (p.Val129Ile)
|
rs1214498152
|
0.00001
|
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp)
|
rs1402663229
|
0.00001
|
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr)
|
rs727504009
|
0.00001
|
NM_022132.5(MCCC2):c.484C>A (p.Gln162Lys)
|
rs944412136
|
0.00001
|
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
|
rs119103222
|
0.00001
|
NM_022132.5(MCCC2):c.578G>A (p.Arg193His)
|
rs535519604
|
0.00001
|
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys)
|
rs368906147
|
0.00001
|
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys)
|
rs753735697
|
0.00001
|
NM_022132.5(MCCC2):c.675C>A (p.Ala225=)
|
rs781610298
|
0.00001
|
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly)
|
rs1199145486
|
0.00001
|
NM_022132.5(MCCC2):c.851T>C (p.Leu284Pro)
|
rs376237028
|
0.00001
|
NM_022132.5(MCCC2):c.884A>G (p.Asn295Ser)
|
rs1368817393
|
0.00001
|
NM_022132.5(MCCC2):c.904-5T>A
|
rs753258629
|
0.00001
|
NM_025136.4(OPA3):c.*1052C>T
|
rs539341907
|
0.00001
|
NM_025136.4(OPA3):c.*1063G>A
|
rs1384983234
|
0.00001
|
NM_025136.4(OPA3):c.*1193A>G
|
rs1969345485
|
0.00001
|
NM_025136.4(OPA3):c.*1496C>T
|
rs938973035
|
0.00001
|
NM_025136.4(OPA3):c.*1799A>G
|
rs886054530
|
0.00001
|
NM_025136.4(OPA3):c.*2041C>G
|
rs1200054696
|
0.00001
|
NM_025136.4(OPA3):c.*2620C>A
|
rs528208456
|
0.00001
|
NM_025136.4(OPA3):c.*322A>G
|
rs886054539
|
0.00001
|
NM_025136.4(OPA3):c.*3472G>A
|
rs1305422353
|
0.00001
|
NM_025136.4(OPA3):c.*3581C>T
|
rs576070088
|
0.00001
|
NM_025136.4(OPA3):c.*4464G>T
|
rs886054522
|
0.00001
|
NM_025136.4(OPA3):c.*4763C>A
|
rs549495140
|
0.00001
|
NM_025136.4(OPA3):c.*4919_*4921del
|
rs886054514
|
0.00001
|
NM_025136.4(OPA3):c.*5888C>T
|
rs886054508
|
0.00001
|
NM_025136.4(OPA3):c.*6046G>A
|
rs1010630541
|
0.00001
|
NM_025136.4(OPA3):c.*6461C>T
|
rs886054505
|
0.00001
|
NM_025136.4(OPA3):c.*6773G>T
|
rs886054504
|
0.00001
|
NM_025136.4(OPA3):c.*7072A>T
|
rs1247746346
|
0.00001
|
NM_025136.4(OPA3):c.*7183G>A
|
rs941194280
|
0.00001
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
NM_025136.4(OPA3):c.197C>T (p.Thr66Met)
|
rs753129998
|
0.00001
|
NM_025136.4(OPA3):c.224C>T (p.Ala75Val)
|
rs769541845
|
0.00001
|
NM_025136.4(OPA3):c.305_322dup (p.Gln107_Gln108insArgArgHisGlnAlaGln)
|
rs1599964564
|
0.00001
|
NM_025136.4(OPA3):c.355T>A (p.Trp119Arg)
|
rs375471439
|
0.00001
|
NM_025136.4(OPA3):c.367C>T (p.Arg123Trp)
|
rs1022155897
|
0.00001
|
NM_025136.4(OPA3):c.373G>A (p.Glu125Lys)
|
rs1346674058
|
0.00001
|
NM_025136.4(OPA3):c.404C>G (p.Ala135Gly)
|
rs372640359
|
0.00001
|
NM_025136.4(OPA3):c.416A>G (p.Gln139Arg)
|
rs1399150102
|
0.00001
|
NM_025136.4(OPA3):c.444C>T (p.Ala148=)
|
rs759536853
|
0.00001
|
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe)
|
rs780492515
|
0.00001
|
NM_025136.4(OPA3):c.499G>C (p.Gly167Arg)
|
rs1364874488
|
0.00001
|
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln)
|
rs779505447
|
0.00001
|
NM_025136.4(OPA3):c.508G>A (p.Ala170Thr)
|
rs374639297
|
0.00001
|
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr)
|
rs774281852
|
0.00001
|
NM_025136.4(OPA3):c.94C>A (p.Arg32Ser)
|
rs753632531
|
0.00001
|
NM_030813.6(CLPB):c.688T>C (p.Trp230Arg)
|
rs749611577
|
0.00001
|
NM_032861.4(SERAC1):c.1169A>G (p.Gln390Arg)
|
rs779061767
|
0.00001
|
NM_032861.4(SERAC1):c.1295C>T (p.Thr432Met)
|
rs780982964
|
0.00001
|
NM_032861.4(SERAC1):c.1403+5C>G
|
rs770722498
|
0.00001
|
NM_032861.4(SERAC1):c.1501+6T>G
|
rs760987565
|
0.00001
|
NM_032861.4(SERAC1):c.1535C>T (p.Ser512Phe)
|
rs751450632
|
0.00001
|
NM_032861.4(SERAC1):c.1537A>G (p.Thr513Ala)
|
rs201367107
|
0.00001
|
NM_032861.4(SERAC1):c.1685-3C>T
|
rs367733861
|
0.00001
|
NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu)
|
rs1478893955
|
0.00001
|
NM_032861.4(SERAC1):c.1762G>A (p.Val588Met)
|
rs756012789
|
0.00001
|
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys)
|
rs1020569740
|
0.00001
|
NM_032861.4(SERAC1):c.1915C>T (p.Arg639Cys)
|
rs575982148
|
0.00001
|
NM_032861.4(SERAC1):c.326C>T (p.Ser109Leu)
|
rs1258024323
|
0.00001
|
NM_032861.4(SERAC1):c.677G>T (p.Cys226Phe)
|
rs1243289662
|
0.00001
|
NM_032861.4(SERAC1):c.87T>G (p.Asp29Glu)
|
rs1404505029
|
0.00001
|
NM_032861.4(SERAC1):c.935C>T (p.Pro312Leu)
|
rs1455975616
|
0.00001
|
NM_052845.3(MMAB):c.-69G>A
|
rs886048928
|
0.00001
|
NM_052845.4(MMAB):c.*2913C>T
|
rs901387869
|
0.00001
|
NM_052845.4(MMAB):c.*716C>T
|
rs886048921
|
0.00001
|
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp)
|
rs1466525448
|
0.00001
|
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala)
|
rs759809454
|
0.00001
|
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu)
|
rs571555515
|
0.00001
|
NM_052845.4(MMAB):c.254C>T (p.Ala85Val)
|
rs770743560
|
0.00001
|
NM_052845.4(MMAB):c.349-10C>T
|
rs896742047
|
0.00001
|
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)
|
rs749936057
|
0.00001
|
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn)
|
rs755568905
|
0.00001
|
NM_052845.4(MMAB):c.424T>C (p.Tyr142His)
|
rs886198506
|
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.577G>A (p.Glu193Lys)
|
rs749758687
|
0.00001
|
NM_052845.4(MMAB):c.584G>A (p.Arg195His)
|
rs756195708
|
0.00001
|
NM_052845.4(MMAB):c.61T>A (p.Cys21Ser)
|
rs763383858
|
0.00001
|
NM_052845.4(MMAB):c.625G>A (p.Val209Met)
|
rs200903284
|
0.00001
|
NM_052845.4(MMAB):c.644+6C>T
|
rs376868629
|
0.00001
|
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu)
|
rs940651669
|
0.00001
|
NM_052845.4(MMAB):c.99G>A (p.Gln33=)
|
rs749127574
|
0.00001
|
NM_145261.4(DNAJC19):c.142G>A (p.Gly48Ser)
|
rs781284254
|
0.00001
|
NM_145261.4(DNAJC19):c.167C>A (p.Pro56His)
|
rs1714943164
|
0.00001
|
NM_145261.4(DNAJC19):c.202G>A (p.Gly68Ser)
|
rs754317673
|
0.00001
|
NM_145261.4(DNAJC19):c.295A>G (p.Ile99Val)
|
rs762783413
|
0.00001
|
NM_145261.4(DNAJC19):c.326T>C (p.Leu109Ser)
|
rs200732155
|
0.00001
|
NM_145261.4(DNAJC19):c.344A>G (p.Lys115Arg)
|
rs1253268997
|
0.00001
|
NM_172250.3(MMAA):c.*1819C>G
|
rs983321169
|
0.00001
|
NM_172250.3(MMAA):c.*229T>C
|
rs886059092
|
0.00001
|
NM_172250.3(MMAA):c.*2378A>G
|
rs886059104
|
0.00001
|
NM_172250.3(MMAA):c.*2444C>G
|
rs934446234
|
0.00001
|
NM_172250.3(MMAA):c.*2479G>A
|
rs886059107
|
0.00001
|
NM_172250.3(MMAA):c.*2627A>G
|
rs886059109
|
0.00001
|
NM_172250.3(MMAA):c.*353C>A
|
rs1302018790
|
0.00001
|
NM_172250.3(MMAA):c.*4504C>A
|
rs1009787082
|
0.00001
|
NM_172250.3(MMAA):c.*540A>T
|
rs886059094
|
0.00001
|
NM_172250.3(MMAA):c.*67G>A
|
rs886059090
|
0.00001
|
NM_172250.3(MMAA):c.1055G>A (p.Ser352Asn)
|
rs756437003
|
0.00001
|
NM_172250.3(MMAA):c.1099A>G (p.Met367Val)
|
rs754474832
|
0.00001
|
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)
|
rs191643294
|
0.00001
|
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu)
|
rs758345818
|
0.00001
|
NM_172250.3(MMAA):c.129G>A (p.Pro43=)
|
rs779779664
|
0.00001
|
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)
|
rs1328584680
|
0.00001
|
NM_172250.3(MMAA):c.313A>G (p.Ile105Val)
|
rs1284134117
|
0.00001
|
NM_172250.3(MMAA):c.367C>T (p.Leu123Phe)
|
rs965827040
|
0.00001
|
NM_172250.3(MMAA):c.400G>C (p.Glu134Gln)
|
rs369113922
|
0.00001
|
NM_172250.3(MMAA):c.488T>C (p.Phe163Ser)
|
rs753463116
|
0.00001
|
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys)
|
rs1036460255
|
0.00001
|
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
|
rs889048711
|
0.00001
|
NM_172250.3(MMAA):c.721A>G (p.Ile241Val)
|
rs756221585
|
0.00001
|
NM_172250.3(MMAA):c.722T>C (p.Ile241Thr)
|
rs371068331
|
0.00001
|
NM_172250.3(MMAA):c.734-7A>G
|
rs753938949
|
0.00001
|
NM_172250.3(MMAA):c.760G>A (p.Ala254Thr)
|
rs769722136
|
0.00001
|
NM_172250.3(MMAA):c.763G>C (p.Asp255His)
|
rs1267434098
|
0.00001
|
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr)
|
rs1204400776
|
0.00001
|
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
NM_172250.3(MMAA):c.86A>G (p.His29Arg)
|
rs367809749
|
0.00001
|
NC_000001.10:g.(?_19199339)_(24690861_?)dup
|
|
|
NC_000001.10:g.(?_45966005)_(45977106_?)dup
|
|
|
NC_000001.11:g.(?_45507336)_(45509235_?)dup
|
|
|
NC_000002.12:g.190246209_190246214del
|
rs1686603593
|
|
NC_000003.11:g.(?_135969218)_(135969420_?)dup
|
|
|
NC_000003.11:g.(?_135969218)_(136048868_?)dup
|
|
|
NC_000003.11:g.(?_15643358)_(15643421_?)dup
|
|
|
NC_000003.11:g.(?_15643358)_(15687154_?)dup
|
|
|
NC_000003.11:g.(?_182733226)_(182817228_?)dup
|
|
|
NC_000005.9:g.(?_70808992)_(70952687_?)dup
|
|
|
NC_000006.11:g.(?_49407899)_(49427199_?)dup
|
|
|
NC_000006.11:g.(?_70386050)_(70490466_?)dup
|
|
|
NC_000006.11:g.(?_70490366)_(70506773_?)dup
|
|
|
NC_000009.11:g.(?_94058283)_(94538120_?)dup
|
|
|
NC_000011.9:g.(?_107992334)_(108464263_?)dup
|
|
|
NC_000011.9:g.(?_71146421)_(75283128_?)dup
|
|
|
NC_000011.9:g.(?_72083949)_(72084078_?)del
|
|
|
NC_000011.9:g.(?_72141336)_(72145518_?)dup
|
|
|
NC_000013.10:g.(?_100038233)_(103718599_?)dup
|
|
|
NC_000013.10:g.(?_100807213)_(100809614_?)dup
|
|
|
NC_000013.10:g.(?_100861566)_(100861737_?)del
|
|
|
NC_000013.10:g.(?_101077867)_(101101579_?)dup
|
|
|
NC_000013.10:g.(?_101077867)_(101182420_?)dup
|
|
|
NC_000013.10:g.(?_101077867)_(101182440_?)dup
|
|
|
NC_000016.10:g.(?_89100662)_(89154227_?)dup
|
|
|
NC_000016.9:g.(?_89167070)_(89187341_?)dup
|
|
|
NC_000016.9:g.(?_89167090)_(89187341_?)dup
|
|
|
NC_000016.9:g.(?_89211655)_(89220615_?)dup
|
|
|
NC_000019.10:g.39480831G>A
|
rs1600735654
|
|
NC_000021.8:g.(?_37133458)_(38311203_?)dup
|
|
|
NC_000021.9:g.(?_36930231)_(36930453_?)dup
|
|
|
NC_000023.10:g.(?_153195397)_(153583460_?)dup
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)dup
|
|
|
NC_000023.10:g.(?_153640181)_(153775961_?)dup
|
|
|
NC_000023.10:g.(?_153641545)_(153648084_?)dup
|
|
|
NC_000023.10:g.(?_153647862)_(153649343_?)dup
|
|
|
NM_000019.3(ACAT1):c.*234_*235delCT
|
rs1295289344
|
|
NM_000019.3(ACAT1):c.*467_*470dup
|
rs537463051
|
|
NM_000019.3(ACAT1):c.*668G>T
|
rs2077754843
|
|
NM_000019.3(ACAT1):c.*675A>C
|
rs886047605
|
|
NM_000019.3(ACAT1):c.*703T>C
|
rs188826374
|
|
NM_000019.4(ACAT1):c.*107dup
|
rs886047598
|
|
NM_000019.4(ACAT1):c.*123_*127dup
|
rs556749538
|
|
NM_000019.4(ACAT1):c.*55T>C
|
rs886047597
|
|
NM_000019.4(ACAT1):c.-22C>T
|
rs3741054
|
|
NM_000019.4(ACAT1):c.1006-10A>G
|
rs886047596
|
|
NM_000019.4(ACAT1):c.1018G>A (p.Val340Met)
|
|
|
NM_000019.4(ACAT1):c.1078G>A (p.Val360Ile)
|
|
|
NM_000019.4(ACAT1):c.1096A>G (p.Met366Val)
|
|
|
NM_000019.4(ACAT1):c.10C>G (p.Leu4Val)
|
rs774524997
|
|
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val)
|
rs1591374695
|
|
NM_000019.4(ACAT1):c.1183G>C (p.Val395Leu)
|
|
|
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs)
|
rs1057520091
|
|
NM_000019.4(ACAT1):c.1207A>T (p.Lys403Ter)
|
|
|
NM_000019.4(ACAT1):c.121-3C>G
|
rs1591361919
|
|
NM_000019.4(ACAT1):c.1219T>C (p.Tyr407His)
|
|
|
NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg)
|
rs553101581
|
|
NM_000019.4(ACAT1):c.1240A>G (p.Asn414Asp)
|
rs2134798319
|
|
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)
|
rs886042080
|
|
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup)
|
rs2077741217
|
|
NM_000019.4(ACAT1):c.1269_1270dup (p.Ile424fs)
|
|
|
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr)
|
rs2077742350
|
|
NM_000019.4(ACAT1):c.133G>C (p.Val45Leu)
|
|
|
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val)
|
rs545826042
|
|
NM_000019.4(ACAT1):c.14C>T (p.Ala5Val)
|
|
|
NM_000019.4(ACAT1):c.15G>C (p.Ala5=)
|
rs886047594
|
|
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)
|
rs1591361995
|
|
NM_000019.4(ACAT1):c.200T>G (p.Leu67Arg)
|
|
|
NM_000019.4(ACAT1):c.209T>C (p.Ile70Thr)
|
|
|
NM_000019.4(ACAT1):c.239-7A>G
|
rs2077417069
|
|
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)
|
rs866364527
|
|
NM_000019.4(ACAT1):c.256G>T (p.Val86Leu)
|
rs1235436246
|
|
NM_000019.4(ACAT1):c.291A>T (p.Gly97=)
|
rs746216662
|
|
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu)
|
rs1591362472
|
|
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn)
|
rs886047595
|
|
NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys)
|
rs1591362483
|
|
NM_000019.4(ACAT1):c.31G>A (p.Gly11Ser)
|
|
|
NM_000019.4(ACAT1):c.326T>G (p.Leu109Trp)
|
|
|
NM_000019.4(ACAT1):c.333A>G (p.Ala111=)
|
rs2135336477
|
|
NM_000019.4(ACAT1):c.340C>T (p.Pro114Ser)
|
|
|
NM_000019.4(ACAT1):c.355T>G (p.Cys119Gly)
|
|
|
NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro)
|
|
|
NM_000019.4(ACAT1):c.405G>T (p.Met135Ile)
|
|
|
NM_000019.4(ACAT1):c.410C>T (p.Ser137Phe)
|
|
|
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe)
|
rs2077446791
|
|
NM_000019.4(ACAT1):c.435+4A>G
|
rs1424341036
|
|
NM_000019.4(ACAT1):c.436-15G>A
|
|
|
NM_000019.4(ACAT1):c.436-4G>C
|
rs3741050
|
|
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn)
|
rs2077523952
|
|
NM_000019.4(ACAT1):c.459G>A (p.Met153Ile)
|
|
|
NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys)
|
rs1198149157
|
|
NM_000019.4(ACAT1):c.475G>A (p.Val159Ile)
|
|
|
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)
|
rs1591367485
|
|
NM_000019.4(ACAT1):c.49C>T (p.Pro17Ser)
|
|
|
NM_000019.4(ACAT1):c.527A>G (p.Glu176Gly)
|
|
|
NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe)
|
rs1320114846
|
|
NM_000019.4(ACAT1):c.575A>G (p.His192Arg)
|
rs2077528154
|
|
NM_000019.4(ACAT1):c.592G>A (p.Glu198Lys)
|
|
|
NM_000019.4(ACAT1):c.602C>T (p.Ala201Val)
|
rs1591368724
|
|
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly)
|
rs532190594
|
|
NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg)
|
rs1591368826
|
|
NM_000019.4(ACAT1):c.670G>C (p.Ala224Pro)
|
rs2134761406
|
|
NM_000019.4(ACAT1):c.707T>C (p.Ile236Thr)
|
|
|
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro)
|
rs2077152202
|
|
NM_000019.4(ACAT1):c.72+6C>A
|
|
|
NM_000019.4(ACAT1):c.730+6G>C
|
|
|
NM_000019.4(ACAT1):c.742G>A (p.Val248Ile)
|
|
|
NM_000019.4(ACAT1):c.744_746del (p.Val250del)
|
|
|
NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys)
|
rs1591370241
|
|
NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala)
|
rs1591370252
|
|
NM_000019.4(ACAT1):c.76A>G (p.Ile26Val)
|
|
|
NM_000019.4(ACAT1):c.826+3_826+6del
|
|
|
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro)
|
rs1591371019
|
|
NM_000019.4(ACAT1):c.838G>A (p.Ala280Thr)
|
rs1318357125
|
|
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn)
|
rs1591371045
|
|
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile)
|
rs1239221388
|
|
NM_000019.4(ACAT1):c.886A>T (p.Met296Leu)
|
|
|
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
|
rs2077610591
|
|
NM_000019.4(ACAT1):c.934A>G (p.Ile312Val)
|
|
|
NM_000019.4(ACAT1):c.941-13T>C
|
rs760991373
|
|
NM_000019.4(ACAT1):c.941-14_941-13insCT
|
rs1555034894
|
|
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup)
|
rs1591372596
|
|
NM_000019.4(ACAT1):c.976C>G (p.Pro326Ala)
|
|
|
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val)
|
rs1057517702
|
|
NM_000116.5(TAFAZZIN):c.*165T>A
|
rs2068620449
|
|
NM_000116.5(TAFAZZIN):c.*387C>T
|
rs1057515819
|
|
NM_000116.5(TAFAZZIN):c.*648A>C
|
rs1413243483
|
|
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.110-18C>T
|
|
|
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
|
|
|
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
|
|
|
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
|
|
|
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn)
|
|
|
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
|
|
|
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
|
|
|
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
|
|
|
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser)
|
rs2068328744
|
|
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
|
|
|
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu)
|
rs1322365208
|
|
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
|
|
|
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn)
|
rs2068329796
|
|
NM_000116.5(TAFAZZIN):c.211T>C (p.Ser71Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe)
|
rs2068330347
|
|
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
|
|
|
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)
|
rs878853654
|
|
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg)
|
rs794729173
|
|
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
|
|
|
NM_000116.5(TAFAZZIN):c.238+6C>T
|
rs781786197
|
|
NM_000116.5(TAFAZZIN):c.245T>C (p.Leu82Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
|
|
|
NM_000116.5(TAFAZZIN):c.284+3G>C
|
rs1569552708
|
|
NM_000116.5(TAFAZZIN):c.284+4A>T
|
rs1603377638
|
|
NM_000116.5(TAFAZZIN):c.284+5G>A
|
|
|
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
|
|
|
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val)
|
rs1569552722
|
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
NM_000116.5(TAFAZZIN):c.302A>T (p.Asp101Val)
|
|
|
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
|
|
|
NM_000116.5(TAFAZZIN):c.310T>G (p.Phe104Val)
|
|
|
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)
|
rs397515739
|
|
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)
|
rs1281729528
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.349A>G (p.Lys117Glu)
|
|
|
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)
|
rs104894937
|
|
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.370+2T>A
|
|
|
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
|
|
|
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
|
|
|
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
|
|
|
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys)
|
rs2068411768
|
|
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
|
|
|
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile)
|
rs2068412679
|
|
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)
|
|
|
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val)
|
rs1603378339
|
|
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs)
|
rs782253789
|
|
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg)
|
rs2068414496
|
|
NM_000116.5(TAFAZZIN):c.461-10_461-5del
|
|
|
NM_000116.5(TAFAZZIN):c.461-3C>A
|
|
|
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)
|
rs1227132566
|
|
NM_000116.5(TAFAZZIN):c.481G>A (p.Gly161Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg)
|
rs2068313278
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
|
|
|
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys)
|
rs1603376560
|
|
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
|
|
|
NM_000116.5(TAFAZZIN):c.533T>C (p.Phe178Ser)
|
|
|
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.541+13_541+28del
|
|
|
NM_000116.5(TAFAZZIN):c.541+5G>A
|
rs2068571041
|
|
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.542-3C>T
|
|
|
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu)
|
rs2068574531
|
|
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
|
|
|
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
|
|
|
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
|
|
|
NM_000116.5(TAFAZZIN):c.583+5G>A
|
|
|
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg)
|
rs878853656
|
|
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
|
|
|
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
|
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
|
|
|
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn)
|
|
|
NM_000116.5(TAFAZZIN):c.632C>A (p.Pro211His)
|
rs2148212627
|
|
NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
|
|
|
NM_000116.5(TAFAZZIN):c.647-6C>T
|
rs901353067
|
|
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu)
|
rs727504431
|
|
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)
|
rs140751478
|
|
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
|
|
|
NM_000116.5(TAFAZZIN):c.688C>T (p.Arg230Cys)
|
|
|
NM_000116.5(TAFAZZIN):c.699+6T>G
|
|
|
NM_000116.5(TAFAZZIN):c.700-13G>A
|
|
|
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
|
|
|
NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met)
|
|
|
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
|
|
|
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly)
|
rs372689133
|
|
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs)
|
rs1557194381
|
|
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)
|
rs2068605582
|
|
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu)
|
rs2068606445
|
|
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
|
|
|
NM_000116.5(TAFAZZIN):c.777+3G>A
|
rs2068606988
|
|
NM_000116.5(TAFAZZIN):c.777+6T>C
|
rs782175712
|
|
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu)
|
rs1557194488
|
|
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met)
|
rs1557194504
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)
|
rs397515750
|
|
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
|
|
|
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His)
|
rs1025920600
|
|
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)
|
rs2068315101
|
|
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
|
|
|
NM_000191.3(HMGCL):c.*290T>C
|
rs886046311
|
|
NM_000191.3(HMGCL):c.112G>T (p.Val38Phe)
|
|
|
NM_000191.3(HMGCL):c.116G>A (p.Gly39Asp)
|
|
|
NM_000191.3(HMGCL):c.12G>A (p.Met4Ile)
|
|
|
NM_000191.3(HMGCL):c.144+4A>G
|
|
|
NM_000191.3(HMGCL):c.145A>G (p.Asn49Asp)
|
|
|
NM_000191.3(HMGCL):c.160C>G (p.Pro54Ala)
|
|
|
NM_000191.3(HMGCL):c.16A>G (p.Lys6Glu)
|
|
|
NM_000191.3(HMGCL):c.173A>G (p.Lys58Arg)
|
rs1638633961
|
|
NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly)
|
|
|
NM_000191.3(HMGCL):c.184A>T (p.Met62Leu)
|
rs373738626
|
|
NM_000191.3(HMGCL):c.187C>T (p.Leu63Phe)
|
|
|
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly)
|
rs754437215
|
|
NM_000191.3(HMGCL):c.20C>T (p.Ala7Val)
|
rs754437215
|
|
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn)
|
rs1570652345
|
|
NM_000191.3(HMGCL):c.233C>T (p.Ser78Phe)
|
|
|
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr)
|
rs886046314
|
|
NM_000191.3(HMGCL):c.294T>A (p.Phe98Leu)
|
|
|
NM_000191.3(HMGCL):c.2T>C (p.Met1Thr)
|
rs2148428492
|
|
NM_000191.3(HMGCL):c.322C>T (p.Pro108Ser)
|
rs2148423771
|
|
NM_000191.3(HMGCL):c.331A>G (p.Lys111Glu)
|
rs1638619737
|
|
NM_000191.3(HMGCL):c.348G>A (p.Ala116=)
|
|
|
NM_000191.3(HMGCL):c.386C>G (p.Ala129Gly)
|
rs1244160232
|
|
NM_000191.3(HMGCL):c.41G>T (p.Gly14Val)
|
|
|
NM_000191.3(HMGCL):c.428T>C (p.Ile143Thr)
|
|
|
NM_000191.3(HMGCL):c.437G>A (p.Ser146Asn)
|
rs1638574066
|
|
NM_000191.3(HMGCL):c.482A>G (p.Asn161Ser)
|
|
|
NM_000191.3(HMGCL):c.497+3G>A
|
rs763178392
|
|
NM_000191.3(HMGCL):c.497G>T (p.Gly166Val)
|
rs2148422419
|
|
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.540C>G (p.Ile180Met)
|
rs2148420690
|
|
NM_000191.3(HMGCL):c.565A>C (p.Thr189Pro)
|
|
|
NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln)
|
|
|
NM_000191.3(HMGCL):c.5C>T (p.Ala2Val)
|
|
|
NM_000191.3(HMGCL):c.60+6T>A
|
|
|
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)
|
rs1553131940
|
|
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)
|
rs1445870588
|
|
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile)
|
rs1570645382
|
|
NM_000191.3(HMGCL):c.630C>T (p.Thr210=)
|
rs886046313
|
|
NM_000191.3(HMGCL):c.649A>G (p.Met217Val)
|
rs767993106
|
|
NM_000191.3(HMGCL):c.661G>A (p.Val221Ile)
|
rs745624801
|
|
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup)
|
rs1553131921
|
|
NM_000191.3(HMGCL):c.685G>A (p.Ala229Thr)
|
|
|
NM_000191.3(HMGCL):c.686C>A (p.Ala229Asp)
|
rs752913892
|
|
NM_000191.3(HMGCL):c.708C>T (p.Asp236=)
|
rs886046312
|
|
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
|
|
|
NM_000191.3(HMGCL):c.721G>A (p.Ala241Thr)
|
rs763416473
|
|
NM_000191.3(HMGCL):c.743C>T (p.Ala248Val)
|
|
|
NM_000191.3(HMGCL):c.750+14T>A
|
rs778868742
|
|
NM_000191.3(HMGCL):c.750+6C>T
|
|
|
NM_000191.3(HMGCL):c.751-10_751-9del
|
rs1638366878
|
|
NM_000191.3(HMGCL):c.751-3T>C
|
rs1356054021
|
|
NM_000191.3(HMGCL):c.760A>G (p.Ser254Gly)
|
|
|
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
|
rs778296169
|
|
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu)
|
rs756958205
|
|
NM_000191.3(HMGCL):c.793G>A (p.Gly265Ser)
|
|
|
NM_000191.3(HMGCL):c.795C>G (p.Gly265=)
|
rs1488079271
|
|
NM_000191.3(HMGCL):c.799C>T (p.Pro267Ser)
|
rs1220289416
|
|
NM_000191.3(HMGCL):c.800C>A (p.Pro267His)
|
rs750347526
|
|
NM_000191.3(HMGCL):c.806C>T (p.Ala269Val)
|
|
|
NM_000191.3(HMGCL):c.811G>A (p.Gly271Arg)
|
|
|
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)
|
rs1638363983
|
|
NM_000191.3(HMGCL):c.824A>G (p.Asn275Ser)
|
|
|
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys)
|
rs1287973337
|
|
NM_000191.3(HMGCL):c.841C>G (p.Leu281Val)
|
rs1638363122
|
|
NM_000191.3(HMGCL):c.866G>A (p.Gly289Asp)
|
|
|
NM_000191.3(HMGCL):c.875C>T (p.Thr292Met)
|
rs1638362250
|
|
NM_000191.3(HMGCL):c.876G>T (p.Thr292=)
|
|
|
NM_000191.3(HMGCL):c.878G>C (p.Gly293Ala)
|
|
|
NM_000191.3(HMGCL):c.899T>C (p.Leu300Pro)
|
rs2148415814
|
|
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu)
|
rs1638700415
|
|
NM_000191.3(HMGCL):c.8C>T (p.Ala3Val)
|
rs1638800964
|
|
NM_000191.3(HMGCL):c.920G>A (p.Cys307Tyr)
|
|
|
NM_000191.3(HMGCL):c.933C>G (p.Asn311Lys)
|
rs1194563406
|
|
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg)
|
rs1557484629
|
|
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter)
|
rs1553131326
|
|
NM_000191.3(HMGCL):c.962C>A (p.Ala321Asp)
|
|
|
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg)
|
rs1553131320
|
|
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser)
|
rs1303767209
|
|
NM_000255.4(MMUT):c.*1182T>C
|
rs1766948465
|
|
NM_000255.4(MMUT):c.*43G>T
|
rs868855862
|
|
NM_000255.4(MMUT):c.*775A>G
|
rs886061553
|
|
NM_000255.4(MMUT):c.-35G>T
|
rs483352795
|
|
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu)
|
rs1581831934
|
|
NM_000255.4(MMUT):c.1156C>A (p.His386Asn)
|
rs1554159937
|
|
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr)
|
rs576536579
|
|
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp)
|
rs1581829908
|
|
NM_000255.4(MMUT):c.1415C>T (p.Ala472Val)
|
rs747589392
|
|
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro)
|
rs368746965
|
|
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val)
|
rs867154364
|
|
NM_000255.4(MMUT):c.1465G>A (p.Val489Ile)
|
rs1767446166
|
|
NM_000255.4(MMUT):c.1515T>C (p.Ile505=)
|
rs772936850
|
|
NM_000255.4(MMUT):c.1622C>T (p.Ala541Val)
|
|
|
NM_000255.4(MMUT):c.1670G>A (p.Arg557Gln)
|
rs756389945
|
|
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr)
|
rs1238333040
|
|
NM_000255.4(MMUT):c.168A>G (p.Pro56=)
|
rs1561959894
|
|
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg)
|
rs1554158951
|
|
NM_000255.4(MMUT):c.1809G>T (p.Arg603Ser)
|
rs756743196
|
|
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg)
|
rs1554158777
|
|
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg)
|
rs1554158775
|
|
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile)
|
rs1767776360
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000255.4(MMUT):c.2125-2A>G
|
rs1561948924
|
|
NM_000255.4(MMUT):c.2180G>A (p.Arg727Gln)
|
|
|
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs)
|
rs1766985866
|
|
NM_000255.4(MMUT):c.2213A>G (p.Asp738Gly)
|
rs2127412055
|
|
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu)
|
rs1554160986
|
|
NM_000255.4(MMUT):c.404C>T (p.Ser135Leu)
|
|
|
NM_000255.4(MMUT):c.41A>T (p.His14Leu)
|
rs886061561
|
|
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr)
|
rs1554160730
|
|
NM_000255.4(MMUT):c.572C>T (p.Ala191Val)
|
rs760782399
|
|
NM_000255.4(MMUT):c.595T>G (p.Phe199Val)
|
rs2127419986
|
|
NM_000255.4(MMUT):c.669_674dup (p.Glu224_Phe225insLeuGlu)
|
rs1554160637
|
|
NM_000255.4(MMUT):c.733A>G (p.Ile245Val)
|
rs754464973
|
|
NM_000255.4(MMUT):c.846A>G (p.Ala282=)
|
rs1184586094
|
|
NM_000255.4(MMUT):c.876C>G (p.Leu292=)
|
rs1767679459
|
|
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del)
|
rs1561957516
|
|
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe)
|
rs1085307929
|
|
NM_000282.4(PCCA):c.-4A>C
|
rs2046021682
|
|
NM_000282.4(PCCA):c.-5C>T
|
rs886049926
|
|
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly)
|
rs2063428007
|
|
NM_000282.4(PCCA):c.1016T>A (p.Val339Glu)
|
|
|
NM_000282.4(PCCA):c.1026GAA[1] (p.Lys343del)
|
|
|
NM_000282.4(PCCA):c.1030A>G (p.Asn344Asp)
|
|
|
NM_000282.4(PCCA):c.1031A>G (p.Asn344Ser)
|
rs2063430702
|
|
NM_000282.4(PCCA):c.1031A>T (p.Asn344Ile)
|
|
|
NM_000282.4(PCCA):c.1033T>G (p.Phe345Val)
|
rs1014756935
|
|
NM_000282.4(PCCA):c.1037A>G (p.Tyr346Cys)
|
rs542465356
|
|
NM_000282.4(PCCA):c.1040T>C (p.Phe347Ser)
|
rs2152589132
|
|
NM_000282.4(PCCA):c.1047A>T (p.Glu349Asp)
|
rs2063431723
|
|
NM_000282.4(PCCA):c.1055C>T (p.Thr352Ile)
|
rs2063432405
|
|
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp)
|
rs761295534
|
|
NM_000282.4(PCCA):c.1075C>G (p.Pro359Ala)
|
|
|
NM_000282.4(PCCA):c.1102G>C (p.Asp368His)
|
rs1555411121
|
|
NM_000282.4(PCCA):c.1105C>G (p.Leu369Val)
|
|
|
NM_000282.4(PCCA):c.1114G>A (p.Glu372Lys)
|
rs1566896430
|
|
NM_000282.4(PCCA):c.1127T>C (p.Val376Ala)
|
|
|
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His)
|
rs1303977643
|
|
NM_000282.4(PCCA):c.1141C>T (p.Pro381Ser)
|
rs2152683965
|
|
NM_000282.4(PCCA):c.1145T>G (p.Leu382Arg)
|
|
|
NM_000282.4(PCCA):c.1152C>A (p.His384Gln)
|
|
|
NM_000282.4(PCCA):c.1160C>G (p.Ala387Gly)
|
rs1484267212
|
|
NM_000282.4(PCCA):c.1162G>A (p.Asp388Asn)
|
|
|
NM_000282.4(PCCA):c.1162G>T (p.Asp388Tyr)
|
rs2152684002
|
|
NM_000282.4(PCCA):c.1168C>T (p.Arg390Cys)
|
|
|
NM_000282.4(PCCA):c.1169G>A (p.Arg390His)
|
|
|
NM_000282.4(PCCA):c.1171A>G (p.Ile391Val)
|
|
|
NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser)
|
rs202015762
|
|
NM_000282.4(PCCA):c.1177G>A (p.Gly393Ser)
|
|
|
NM_000282.4(PCCA):c.1178G>A (p.Gly393Asp)
|
|
|
NM_000282.4(PCCA):c.1178G>C (p.Gly393Ala)
|
|
|
NM_000282.4(PCCA):c.1184C>G (p.Ala395Gly)
|
|
|
NM_000282.4(PCCA):c.1184C>T (p.Ala395Val)
|
rs1354175358
|
|
NM_000282.4(PCCA):c.1209+6dup
|
rs746645726
|
|
NM_000282.4(PCCA):c.1209G>A (p.Glu403=)
|
rs775767058
|
|
NM_000282.4(PCCA):c.120T>C (p.Tyr40=)
|
rs2047399572
|
|
NM_000282.4(PCCA):c.1213C>G (p.Pro405Ala)
|
rs772750102
|
|
NM_000282.4(PCCA):c.1214C>A (p.Pro405His)
|
rs200874114
|
|
NM_000282.4(PCCA):c.1219A>G (p.Lys407Glu)
|
rs1190274343
|
|
NM_000282.4(PCCA):c.1220A>G (p.Lys407Arg)
|
|
|
NM_000282.4(PCCA):c.1240A>G (p.Ile414Val)
|
|
|
NM_000282.4(PCCA):c.1258T>C (p.Tyr420His)
|
|
|
NM_000282.4(PCCA):c.1265A>G (p.Glu422Gly)
|
|
|
NM_000282.4(PCCA):c.1271T>C (p.Leu424Ser)
|
|
|
NM_000282.4(PCCA):c.1285-1417T>C
|
rs1232004179
|
|
NM_000282.4(PCCA):c.1288C>G (p.Arg430Gly)
|
rs776821944
|
|
NM_000282.4(PCCA):c.128A>G (p.Gln43Arg)
|
|
|
NM_000282.4(PCCA):c.12C>G (p.Phe4Leu)
|
rs759257021
|
|
NM_000282.4(PCCA):c.1318G>A (p.Asp440Asn)
|
|
|
NM_000282.4(PCCA):c.1323T>G (p.Ile441Met)
|
|
|
NM_000282.4(PCCA):c.1339C>T (p.Pro447Ser)
|
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
NM_000282.4(PCCA):c.1366G>A (p.Gly456Ser)
|
rs1566911665
|
|
NM_000282.4(PCCA):c.1367G>A (p.Gly456Asp)
|
|
|
NM_000282.4(PCCA):c.136A>G (p.Met46Val)
|
rs774158004
|
|
NM_000282.4(PCCA):c.1381G>A (p.Glu461Lys)
|
|
|
NM_000282.4(PCCA):c.1383G>A (p.Glu461=)
|
rs2066768313
|
|
NM_000282.4(PCCA):c.1397T>C (p.Met466Thr)
|
rs370549437
|
|
NM_000282.4(PCCA):c.1399G>A (p.Ala467Thr)
|
|
|
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu)
|
rs769970677
|
|
NM_000282.4(PCCA):c.1418A>G (p.Tyr473Cys)
|
rs2066770739
|
|
NM_000282.4(PCCA):c.1423A>T (p.Ile475Phe)
|
rs35719359
|
|
NM_000282.4(PCCA):c.1427G>A (p.Arg476Gln)
|
|
|
NM_000282.4(PCCA):c.1428A>G (p.Arg476=)
|
|
|
NM_000282.4(PCCA):c.1429G>A (p.Gly477Ser)
|
|
|
NM_000282.4(PCCA):c.1438C>A (p.His480Asn)
|
|
|
NM_000282.4(PCCA):c.1453C>T (p.Leu485Phe)
|
rs1302157004
|
|
NM_000282.4(PCCA):c.1461G>C (p.Glu487Asp)
|
rs767997785
|
|
NM_000282.4(PCCA):c.1469T>C (p.Ile490Thr)
|
|
|
NM_000282.4(PCCA):c.1478G>A (p.Arg493His)
|
|
|
NM_000282.4(PCCA):c.1496T>C (p.Ile499Thr)
|
|
|
NM_000282.4(PCCA):c.1516G>T (p.Asp506Tyr)
|
|
|
NM_000282.4(PCCA):c.1519G>T (p.Val507Leu)
|
rs146061036
|
|
NM_000282.4(PCCA):c.1522T>C (p.Tyr508His)
|
|
|
NM_000282.4(PCCA):c.1534T>G (p.Phe512Val)
|
rs779659813
|
|
NM_000282.4(PCCA):c.1566G>T (p.Lys522Asn)
|
rs2071087775
|
|
NM_000282.4(PCCA):c.1567A>T (p.Asn523Tyr)
|
|
|
NM_000282.4(PCCA):c.1568A>C (p.Asn523Thr)
|
rs2152751879
|
|
NM_000282.4(PCCA):c.1569C>G (p.Asn523Lys)
|
|
|
NM_000282.4(PCCA):c.1589C>T (p.Ser530Leu)
|
rs2071090257
|
|
NM_000282.4(PCCA):c.1591T>C (p.Ser531Pro)
|
|
|
NM_000282.4(PCCA):c.1596G>T (p.Leu532Phe)
|
|
|
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter)
|
rs11539554
|
|
NM_000282.4(PCCA):c.1612T>A (p.Leu538Ile)
|
|
|
NM_000282.4(PCCA):c.1622A>G (p.Gln541Arg)
|
rs2152751997
|
|
NM_000282.4(PCCA):c.1626T>G (p.His542Gln)
|
|
|
NM_000282.4(PCCA):c.1643+1_1643+2dup
|
rs1555425626
|
|
NM_000282.4(PCCA):c.1643+6G>A
|
|
|
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
|
rs61749895
|
|
NM_000282.4(PCCA):c.1666A>G (p.Ile556Val)
|
rs2152811800
|
|
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg)
|
rs2152811823
|
|
NM_000282.4(PCCA):c.1687G>A (p.Val563Ile)
|
|
|
NM_000282.4(PCCA):c.1694T>C (p.Leu565Ser)
|
|
|
NM_000282.4(PCCA):c.1697A>G (p.His566Arg)
|
|
|
NM_000282.4(PCCA):c.1705G>A (p.Val569Ile)
|
|
|
NM_000282.4(PCCA):c.1714G>A (p.Val572Ile)
|
|
|
NM_000282.4(PCCA):c.1729A>G (p.Asn577Asp)
|
rs1475268855
|
|
NM_000282.4(PCCA):c.172C>T (p.Pro58Ser)
|
|
|
NM_000282.4(PCCA):c.1731T>A (p.Asn577Lys)
|
rs2152811890
|
|
NM_000282.4(PCCA):c.1760G>C (p.Gly587Ala)
|
rs2079091617
|
|
NM_000282.4(PCCA):c.1792C>G (p.Leu598Val)
|
rs2079093758
|
|
NM_000282.4(PCCA):c.1799C>T (p.Ser600Leu)
|
|
|
NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr)
|
rs2079095516
|
|
NM_000282.4(PCCA):c.1819G>A (p.Val607Ile)
|
|
|
NM_000282.4(PCCA):c.1819G>C (p.Val607Leu)
|
|
|
NM_000282.4(PCCA):c.1819G>T (p.Val607Phe)
|
rs751083923
|
|
NM_000282.4(PCCA):c.1828A>G (p.Thr610Ala)
|
rs749767976
|
|
NM_000282.4(PCCA):c.183+3A>G
|
|
|
NM_000282.4(PCCA):c.183+4_183+7del
|
rs1555342581
|
|
NM_000282.4(PCCA):c.1835G>C (p.Arg612Thr)
|
rs1947530469
|
|
NM_000282.4(PCCA):c.183A>G (p.Lys61=)
|
|
|
NM_000282.4(PCCA):c.1845+10584_1845+10585delinsTC
|
|
|
NM_000282.4(PCCA):c.1856G>C (p.Arg619Pro)
|
|
|
NM_000282.4(PCCA):c.1877G>A (p.Ser626Asn)
|
|
|
NM_000282.4(PCCA):c.1883A>C (p.Gln628Pro)
|
|
|
NM_000282.4(PCCA):c.1884G>A (p.Gln628=)
|
rs552141237
|
|
NM_000282.4(PCCA):c.1898T>C (p.Val633Ala)
|
|
|
NM_000282.4(PCCA):c.1898T>G (p.Val633Gly)
|
rs375617644
|
|
NM_000282.4(PCCA):c.1903A>G (p.Lys635Glu)
|
|
|
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser)
|
rs1594099709
|
|
NM_000282.4(PCCA):c.1943A>C (p.Lys648Thr)
|
|
|
NM_000282.4(PCCA):c.1943A>G (p.Lys648Arg)
|
|
|
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
|
rs765771203
|
|
NM_000282.4(PCCA):c.1969G>A (p.Asp657Asn)
|
|
|
NM_000282.4(PCCA):c.1978A>T (p.Ser660Cys)
|
|
|
NM_000282.4(PCCA):c.1981G>A (p.Val661Ile)
|
|
|
NM_000282.4(PCCA):c.1985T>G (p.Leu662Arg)
|
|
|
NM_000282.4(PCCA):c.1994C>T (p.Pro665Leu)
|
|
|
NM_000282.4(PCCA):c.19G>C (p.Gly7Arg)
|
|
|
NM_000282.4(PCCA):c.1A>G (p.Met1Val)
|
|
|
NM_000282.4(PCCA):c.2005G>C (p.Val669Leu)
|
|
|
NM_000282.4(PCCA):c.2017G>A (p.Val673Ile)
|
rs142646074
|
|
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)
|
rs142646074
|
|
NM_000282.4(PCCA):c.2028G>T (p.Lys676Asn)
|
|
|
NM_000282.4(PCCA):c.2040+9TG[3]
|
rs751014655
|
|
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)
|
rs369982920
|
|
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)
|
rs774949844
|
|
NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn)
|
rs2087964084
|
|
NM_000282.4(PCCA):c.209A>G (p.Asn70Ser)
|
|
|
NM_000282.4(PCCA):c.20G>C (p.Gly7Ala)
|
|
|
NM_000282.4(PCCA):c.2108_2111del (p.Lys703fs)
|
|
|
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys)
|
rs2087968295
|
|
NM_000282.4(PCCA):c.2115C>T (p.Gly705=)
|
|
|
NM_000282.4(PCCA):c.2117C>T (p.Thr706Met)
|
|
|
NM_000282.4(PCCA):c.2118+3G>C
|
|
|
NM_000282.4(PCCA):c.2118G>A (p.Thr706=)
|
rs758468297
|
|
NM_000282.4(PCCA):c.2125T>C (p.Ser709Pro)
|
|
|
NM_000282.4(PCCA):c.2126C>T (p.Ser709Phe)
|
|
|
NM_000282.4(PCCA):c.2134T>C (p.Cys712Arg)
|
rs2088292660
|
|
NM_000282.4(PCCA):c.2135G>A (p.Cys712Tyr)
|
|
|
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)
|
rs141286340
|
|
NM_000282.4(PCCA):c.2161G>T (p.Gly721Trp)
|
|
|
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)
|
rs749875940
|
|
NM_000282.4(PCCA):c.2165A>T (p.Asp722Val)
|
rs1283571787
|
|
NM_000282.4(PCCA):c.2171T>A (p.Leu724His)
|
|
|
NM_000282.4(PCCA):c.252G>T (p.Lys84Asn)
|
|
|
NM_000282.4(PCCA):c.257G>A (p.Gly86Asp)
|
|
|
NM_000282.4(PCCA):c.264G>C (p.Lys88Asn)
|
rs2152279056
|
|
NM_000282.4(PCCA):c.286G>A (p.Val96Ile)
|
|
|
NM_000282.4(PCCA):c.287T>C (p.Val96Ala)
|
rs2048368792
|
|
NM_000282.4(PCCA):c.289G>C (p.Asp97His)
|
|
|
NM_000282.4(PCCA):c.290A>G (p.Asp97Gly)
|
|
|
NM_000282.4(PCCA):c.293C>T (p.Ala98Val)
|
rs2152279131
|
|
NM_000282.4(PCCA):c.29C>A (p.Pro10Gln)
|
rs1251572354
|
|
NM_000282.4(PCCA):c.29C>T (p.Pro10Leu)
|
rs1251572354
|
|
NM_000282.4(PCCA):c.300+2dup
|
rs2048370100
|
|
NM_000282.4(PCCA):c.305A>C (p.His102Pro)
|
|
|
NM_000282.4(PCCA):c.315G>A (p.Met105Ile)
|
|
|
NM_000282.4(PCCA):c.32T>A (p.Leu11Gln)
|
|
|
NM_000282.4(PCCA):c.331T>A (p.Cys111Ser)
|
|
|
NM_000282.4(PCCA):c.334G>A (p.Val112Ile)
|
|
|
NM_000282.4(PCCA):c.340C>A (p.Pro114Thr)
|
|
|
NM_000282.4(PCCA):c.346C>G (p.Pro116Ala)
|
rs1566594619
|
|
NM_000282.4(PCCA):c.370A>G (p.Met124Val)
|
rs748802820
|
|
NM_000282.4(PCCA):c.380T>G (p.Ile127Ser)
|
|
|
NM_000282.4(PCCA):c.383T>C (p.Met128Thr)
|
|
|
NM_000282.4(PCCA):c.391A>G (p.Ile131Val)
|
|
|
NM_000282.4(PCCA):c.391A>T (p.Ile131Phe)
|
|
|
NM_000282.4(PCCA):c.409C>A (p.Gln137Lys)
|
|
|
NM_000282.4(PCCA):c.415G>A (p.Val139Ile)
|
rs770129876
|
|
NM_000282.4(PCCA):c.415G>T (p.Val139Leu)
|
|
|
NM_000282.4(PCCA):c.418C>T (p.His140Tyr)
|
|
|
NM_000282.4(PCCA):c.419A>G (p.His140Arg)
|
|
|
NM_000282.4(PCCA):c.42C>T (p.Ala14=)
|
rs200714802
|
|
NM_000282.4(PCCA):c.449A>G (p.Lys150Arg)
|
|
|
NM_000282.4(PCCA):c.458C>A (p.Ala153Asp)
|
|
|
NM_000282.4(PCCA):c.460A>G (p.Arg154Gly)
|
|
|
NM_000282.4(PCCA):c.479A>G (p.Asp160Gly)
|
|
|
NM_000282.4(PCCA):c.484G>T (p.Val162Phe)
|
|
|
NM_000282.4(PCCA):c.488T>A (p.Phe163Tyr)
|
rs1177671858
|
|
NM_000282.4(PCCA):c.497C>T (p.Pro166Leu)
|
|
|
NM_000282.4(PCCA):c.4G>C (p.Ala2Pro)
|
|
|
NM_000282.4(PCCA):c.505C>T (p.His169Tyr)
|
|
|
NM_000282.4(PCCA):c.518C>G (p.Ala173Gly)
|
|
|
NM_000282.4(PCCA):c.52G>C (p.Gly18Arg)
|
rs779286461
|
|
NM_000282.4(PCCA):c.531G>C (p.Lys177Asn)
|
rs2152478767
|
|
NM_000282.4(PCCA):c.551C>G (p.Ala184Gly)
|
rs2059068868
|
|
NM_000282.4(PCCA):c.574A>G (p.Ile192Val)
|
|
|
NM_000282.4(PCCA):c.578C>T (p.Pro193Leu)
|
rs1225108460
|
|
NM_000282.4(PCCA):c.587A>G (p.Asp196Gly)
|
|
|
NM_000282.4(PCCA):c.58T>A (p.Trp20Arg)
|
|
|
NM_000282.4(PCCA):c.58T>C (p.Trp20Arg)
|
rs1302125451
|
|
NM_000282.4(PCCA):c.592G>A (p.Val198Ile)
|
|
|
NM_000282.4(PCCA):c.602A>T (p.Asp201Val)
|
|
|
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del)
|
rs750672608
|
|
NM_000282.4(PCCA):c.611A>C (p.Glu204Ala)
|
|
|
NM_000282.4(PCCA):c.611A>G (p.Glu204Gly)
|
|
|
NM_000282.4(PCCA):c.615dup (p.Val206fs)
|
rs1566767338
|
|
NM_000282.4(PCCA):c.633A>T (p.Glu211Asp)
|
|
|
NM_000282.4(PCCA):c.637+3A>G
|
|
|
NM_000282.4(PCCA):c.649A>G (p.Met217Val)
|
rs372844772
|
|
NM_000282.4(PCCA):c.64C>T (p.Pro22Ser)
|
|
|
NM_000282.4(PCCA):c.650T>C (p.Met217Thr)
|
rs750593565
|
|
NM_000282.4(PCCA):c.651G>C (p.Met217Ile)
|
rs1018685292
|
|
NM_000282.4(PCCA):c.652A>C (p.Ile218Leu)
|
rs1012525921
|
|
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)
|
rs1555396108
|
|
NM_000282.4(PCCA):c.674G>A (p.Gly225Asp)
|
rs2062161647
|
|
NM_000282.4(PCCA):c.685A>G (p.Met229Val)
|
|
|
NM_000282.4(PCCA):c.701A>G (p.Asp234Gly)
|
|
|
NM_000282.4(PCCA):c.702T>A (p.Asp234Glu)
|
|
|
NM_000282.4(PCCA):c.717-13_717-11del
|
rs2152564870
|
|
NM_000282.4(PCCA):c.719A>C (p.Asp240Ala)
|
|
|
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
|
|
|
NM_000282.4(PCCA):c.740A>C (p.Gln247Pro)
|
|
|
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys)
|
rs1064793224
|
|
NM_000282.4(PCCA):c.755G>C (p.Ser252Thr)
|
|
|
NM_000282.4(PCCA):c.763G>A (p.Asp255Asn)
|
|
|
NM_000282.4(PCCA):c.764A>G (p.Asp255Gly)
|
rs746776657
|
|
NM_000282.4(PCCA):c.77T>C (p.Met26Thr)
|
|
|
NM_000282.4(PCCA):c.792T>G (p.Ile264Met)
|
rs1484956776
|
|
NM_000282.4(PCCA):c.797A>C (p.Asn266Thr)
|
rs2152564988
|
|
NM_000282.4(PCCA):c.820G>A (p.Val274Ile)
|
rs767299022
|
|
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu)
|
rs1595032543
|
|
NM_000282.4(PCCA):c.841A>C (p.Asn281His)
|
rs2152572294
|
|
NM_000282.4(PCCA):c.858T>A (p.Asn286Lys)
|
rs778427348
|
|
NM_000282.4(PCCA):c.893A>C (p.Lys298Thr)
|
|
|
NM_000282.4(PCCA):c.895G>A (p.Val299Met)
|
rs1188239325
|
|
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln)
|
rs775686458
|
|
NM_000282.4(PCCA):c.914+8T>A
|
rs543352333
|
|
NM_000282.4(PCCA):c.915-8A>G
|
rs2063416324
|
|
NM_000282.4(PCCA):c.915C>A (p.Ser305Arg)
|
|
|
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg)
|
rs768758704
|
|
NM_000282.4(PCCA):c.915C>T (p.Ser305=)
|
|
|
NM_000282.4(PCCA):c.917T>A (p.Ile306Asn)
|
|
|
NM_000282.4(PCCA):c.926A>T (p.Asp309Val)
|
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
NM_000282.4(PCCA):c.929C>T (p.Ala310Val)
|
rs146927771
|
|
NM_000282.4(PCCA):c.930G>A (p.Ala310=)
|
|
|
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp)
|
rs369790356
|
|
NM_000282.4(PCCA):c.934A>T (p.Thr312Ser)
|
|
|
NM_000282.4(PCCA):c.937C>G (p.Arg313Gly)
|
rs138149179
|
|
NM_000282.4(PCCA):c.938G>A (p.Arg313Gln)
|
|
|
NM_000282.4(PCCA):c.944C>T (p.Ala315Val)
|
rs1302507711
|
|
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)
|
rs137861347
|
|
NM_000282.4(PCCA):c.947T>C (p.Met316Thr)
|
|
|
NM_000282.4(PCCA):c.947T>G (p.Met316Arg)
|
rs137861347
|
|
NM_000282.4(PCCA):c.958G>A (p.Ala320Thr)
|
rs1434912184
|
|
NM_000282.4(PCCA):c.962T>C (p.Val321Ala)
|
|
|
NM_000282.4(PCCA):c.967C>T (p.Leu323Phe)
|
rs1394612377
|
|
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
|
rs2063427075
|
|
NM_000411.8(HLCS):c.-393+2558C>T
|
|
|
NM_000532.4(PCCB):c.-46A>T
|
rs751837162
|
|
NM_000532.5(PCCB):c.*128_*132del
|
rs886058021
|
|
NM_000532.5(PCCB):c.1004A>G (p.Asn335Ser)
|
|
|
NM_000532.5(PCCB):c.1006T>A (p.Tyr336Asn)
|
|
|
NM_000532.5(PCCB):c.1013A>C (p.Lys338Thr)
|
|
|
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp)
|
rs1934921365
|
|
NM_000532.5(PCCB):c.1021A>G (p.Ile341Val)
|
|
|
NM_000532.5(PCCB):c.1022TTG[1] (p.Val342del)
|
|
|
NM_000532.5(PCCB):c.1037G>A (p.Arg346Lys)
|
|
|
NM_000532.5(PCCB):c.1039A>T (p.Met347Leu)
|
|
|
NM_000532.5(PCCB):c.1068C>T (p.Gly356=)
|
rs980116020
|
|
NM_000532.5(PCCB):c.106A>C (p.Asn36His)
|
|
|
NM_000532.5(PCCB):c.1088C>T (p.Ser363Leu)
|
rs2108226720
|
|
NM_000532.5(PCCB):c.1090+3A>C
|
|
|
NM_000532.5(PCCB):c.1090+6A>C
|
|
|
NM_000532.5(PCCB):c.1091-6_1091-3del
|
rs767794302
|
|
NM_000532.5(PCCB):c.1123_1124delinsCT (p.Ala375Leu)
|
|
|
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val)
|
rs1576360099
|
|
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)
|
rs142982097
|
|
NM_000532.5(PCCB):c.1132G>C (p.Val378Leu)
|
rs761529521
|
|
NM_000532.5(PCCB):c.1132G>T (p.Val378Phe)
|
rs761529521
|
|
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr)
|
rs1024773388
|
|
NM_000532.5(PCCB):c.115A>G (p.Ile39Val)
|
rs1208205672
|
|
NM_000532.5(PCCB):c.1165A>T (p.Ile389Phe)
|
|
|
NM_000532.5(PCCB):c.1166T>A (p.Ile389Asn)
|
rs2108237886
|
|
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile)
|
rs201880353
|
|
NM_000532.5(PCCB):c.116T>G (p.Ile39Ser)
|
|
|
NM_000532.5(PCCB):c.1195C>T (p.Pro399Ser)
|
|
|
NM_000532.5(PCCB):c.119A>G (p.Glu40Gly)
|
|
|
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)
|
rs777359703
|
|
NM_000532.5(PCCB):c.1202C>A (p.Thr401Lys)
|
rs371610471
|
|
NM_000532.5(PCCB):c.1202C>T (p.Thr401Ile)
|
|
|
NM_000532.5(PCCB):c.1207C>G (p.Gln403Glu)
|
|
|
NM_000532.5(PCCB):c.1219G>A (p.Gly407Ser)
|
|
|
NM_000532.5(PCCB):c.1220G>A (p.Gly407Asp)
|
|
|
NM_000532.5(PCCB):c.1220G>T (p.Gly407Val)
|
|
|
NM_000532.5(PCCB):c.1221del (p.Ile408fs)
|
rs1560033769
|
|
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
|
|
|
NM_000532.5(PCCB):c.1226del (p.Ile409fs)
|
rs1560033794
|
|
NM_000532.5(PCCB):c.1231C>A (p.His411Asn)
|
|
|
NM_000532.5(PCCB):c.1235G>A (p.Gly412Asp)
|
rs994386938
|
|
NM_000532.5(PCCB):c.1252G>A (p.Ala418Thr)
|
|
|
NM_000532.5(PCCB):c.1253C>T (p.Ala418Val)
|
|
|
NM_000532.5(PCCB):c.1267A>G (p.Thr423Ala)
|
|
|
NM_000532.5(PCCB):c.1274C>T (p.Pro425Leu)
|
|
|
NM_000532.5(PCCB):c.127C>T (p.Arg43Cys)
|
rs1031941989
|
|
NM_000532.5(PCCB):c.1299+5G>A
|
|
|
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del)
|
rs1553773148
|
|
NM_000532.5(PCCB):c.1300-4T>A
|
rs1935372420
|
|
NM_000532.5(PCCB):c.130C>G (p.Arg44Gly)
|
rs749210374
|
|
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
|
|
|
NM_000532.5(PCCB):c.1348G>A (p.Asp450Asn)
|
|
|
NM_000532.5(PCCB):c.134C>G (p.Thr45Ser)
|
|
|
NM_000532.5(PCCB):c.1356C>G (p.Asn452Lys)
|
rs1455298516
|
|
NM_000532.5(PCCB):c.1358A>G (p.Tyr453Cys)
|
|
|
NM_000532.5(PCCB):c.1361C>A (p.Ala454Asp)
|
|
|
NM_000532.5(PCCB):c.1393G>A (p.Ala465Thr)
|
rs774232001
|
|
NM_000532.5(PCCB):c.1398+3G>A
|
rs767511434
|
|
NM_000532.5(PCCB):c.139C>A (p.Leu47Met)
|
|
|
NM_000532.5(PCCB):c.1400G>C (p.Gly467Ala)
|
rs2108240251
|
|
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr)
|
rs775563122
|
|
NM_000532.5(PCCB):c.1402G>T (p.Ala468Ser)
|
|
|
NM_000532.5(PCCB):c.140T>G (p.Leu47Arg)
|
|
|
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)
|
rs781556055
|
|
NM_000532.5(PCCB):c.1462G>C (p.Glu488Gln)
|
|
|
NM_000532.5(PCCB):c.1475A>G (p.Asn492Ser)
|
|
|
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu)
|
rs1179000221
|
|
NM_000532.5(PCCB):c.1489G>A (p.Ala497Thr)
|
|
|
NM_000532.5(PCCB):c.1490C>G (p.Ala497Gly)
|
|
|
NM_000532.5(PCCB):c.1496G>T (p.Arg499Leu)
|
|
|
NM_000532.5(PCCB):c.1503del (p.Phe501fs)
|
rs1553785139
|
|
NM_000532.5(PCCB):c.1518C>G (p.Ile506Met)
|
|
|
NM_000532.5(PCCB):c.151G>A (p.Gly51Ser)
|
|
|
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg)
|
rs886058020
|
|
NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del)
|
rs1553785152
|
|
NM_000532.5(PCCB):c.1531A>C (p.Thr511Pro)
|
|
|
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val)
|
rs1935481576
|
|
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup)
|
rs1553785169
|
|
NM_000532.5(PCCB):c.1568C>T (p.Ala523Val)
|
|
|
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly)
|
rs1560035695
|
|
NM_000532.5(PCCB):c.1572C>G (p.Ser524Arg)
|
rs2108241736
|
|
NM_000532.5(PCCB):c.1574A>G (p.Lys525Arg)
|
|
|
NM_000532.5(PCCB):c.1585C>T (p.Arg529Cys)
|
|
|
NM_000532.5(PCCB):c.1586G>A (p.Arg529His)
|
|
|
NM_000532.5(PCCB):c.158G>A (p.Arg53His)
|
|
|
NM_000532.5(PCCB):c.1591T>G (p.Trp531Gly)
|
rs1284814283
|
|
NM_000532.5(PCCB):c.1609_1610del (p.Ile537fs)
|
|
|
NM_000532.5(PCCB):c.1610T>A (p.Ile537Asn)
|
rs759733016
|
|
NM_000532.5(PCCB):c.1612C>T (p.Pro538Ser)
|
rs775930817
|
|
NM_000532.5(PCCB):c.161G>A (p.Arg54His)
|
|
|
NM_000532.5(PCCB):c.163A>T (p.Ile55Phe)
|
rs561539546
|
|
NM_000532.5(PCCB):c.164T>C (p.Ile55Thr)
|
rs765790211
|
|
NM_000532.5(PCCB):c.166G>T (p.Asp56Tyr)
|
|
|
NM_000532.5(PCCB):c.16C>G (p.Arg6Gly)
|
|
|
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp)
|
rs377681768
|
|
NM_000532.5(PCCB):c.170C>T (p.Ala57Val)
|
|
|
NM_000532.5(PCCB):c.175C>T (p.His59Tyr)
|
|
|
NM_000532.5(PCCB):c.17G>T (p.Arg6Leu)
|
rs767965814
|
|
NM_000532.5(PCCB):c.183+11_183+30dup
|
rs1205510892
|
|
NM_000532.5(PCCB):c.183+14G>A
|
|
|
NM_000532.5(PCCB):c.183+21_183+46del
|
|
|
NM_000532.5(PCCB):c.183+3_183+6del
|
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
NM_000532.5(PCCB):c.183+5G>C
|
|
|
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala)
|
rs886058017
|
|
NM_000532.5(PCCB):c.197C>T (p.Ala66Val)
|
rs2108137275
|
|
NM_000532.5(PCCB):c.199A>G (p.Arg67Gly)
|
|
|
NM_000532.5(PCCB):c.19G>T (p.Val7Leu)
|
|
|
NM_000532.5(PCCB):c.202G>A (p.Glu68Lys)
|
rs2108137296
|
|
NM_000532.5(PCCB):c.210C>G (p.Ile70Met)
|
|
|
NM_000532.5(PCCB):c.211A>G (p.Ser71Gly)
|
|
|
NM_000532.5(PCCB):c.221T>C (p.Leu74Pro)
|
|
|
NM_000532.5(PCCB):c.223G>T (p.Asp75Tyr)
|
rs2108137332
|
|
NM_000532.5(PCCB):c.235T>G (p.Phe79Val)
|
|
|
NM_000532.5(PCCB):c.247G>A (p.Asp83Asn)
|
|
|
NM_000532.5(PCCB):c.274G>C (p.Asp92His)
|
rs2108137411
|
|
NM_000532.5(PCCB):c.275A>G (p.Asp92Gly)
|
|
|
NM_000532.5(PCCB):c.283A>G (p.Met95Val)
|
rs1941662476
|
|
NM_000532.5(PCCB):c.292_294del (p.Asp98del)
|
rs1307067547
|
|
NM_000532.5(PCCB):c.293A>C (p.Asp98Ala)
|
rs915881293
|
|
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del)
|
rs763485353
|
|
NM_000532.5(PCCB):c.319G>A (p.Val107Met)
|
rs1553774114
|
|
NM_000532.5(PCCB):c.344A>G (p.Asn115Ser)
|
rs2108138282
|
|
NM_000532.5(PCCB):c.34G>A (p.Ala12Thr)
|
|
|
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)
|
rs1257439275
|
|
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile)
|
rs1941677490
|
|
NM_000532.5(PCCB):c.372+4T>C
|
|
|
NM_000532.5(PCCB):c.373-1243G>A
|
rs1184391176
|
|
NM_000532.5(PCCB):c.373-1246G>A
|
rs996480567
|
|
NM_000532.5(PCCB):c.392G>A (p.Gly131Asp)
|
|
|
NM_000532.5(PCCB):c.393C>T (p.Gly131=)
|
rs2108144426
|
|
NM_000532.5(PCCB):c.394A>G (p.Ser132Gly)
|
|
|
NM_000532.5(PCCB):c.404G>T (p.Gly135Val)
|
|
|
NM_000532.5(PCCB):c.40C>A (p.Leu14Ile)
|
|
|
NM_000532.5(PCCB):c.40C>T (p.Leu14Phe)
|
rs1215705998
|
|
NM_000532.5(PCCB):c.430-13T>G
|
|
|
NM_000532.5(PCCB):c.430A>G (p.Ile144Val)
|
|
|
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr)
|
rs1559998737
|
|
NM_000532.5(PCCB):c.472C>G (p.Leu158Val)
|
rs2108146685
|
|
NM_000532.5(PCCB):c.477T>A (p.Asn159Lys)
|
rs765946213
|
|
NM_000532.5(PCCB):c.513G>C (p.Glu171Asp)
|
rs1941842177
|
|
NM_000532.5(PCCB):c.526T>C (p.Tyr176His)
|
|
|
NM_000532.5(PCCB):c.527A>G (p.Tyr176Cys)
|
|
|
NM_000532.5(PCCB):c.53C>G (p.Ala18Gly)
|
rs769481450
|
|
NM_000532.5(PCCB):c.53C>T (p.Ala18Val)
|
|
|
NM_000532.5(PCCB):c.545G>C (p.Arg182Thr)
|
rs2108181825
|
|
NM_000532.5(PCCB):c.553del (p.Thr185fs)
|
rs886058018
|
|
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg)
|
rs369612150
|
|
NM_000532.5(PCCB):c.555G>C (p.Thr185=)
|
rs543691110
|
|
NM_000532.5(PCCB):c.565G>A (p.Val189Ile)
|
rs2108181880
|
|
NM_000532.5(PCCB):c.571C>G (p.Pro191Ala)
|
|
|
NM_000532.5(PCCB):c.577A>C (p.Ile193Leu)
|
rs1212475120
|
|
NM_000532.5(PCCB):c.586A>G (p.Ile196Val)
|
|
|
NM_000532.5(PCCB):c.58G>A (p.Gly20Ser)
|
rs777726717
|
|
NM_000532.5(PCCB):c.58G>T (p.Gly20Cys)
|
|
|
NM_000532.5(PCCB):c.590T>C (p.Met197Thr)
|
|
|
NM_000532.5(PCCB):c.596C>G (p.Pro199Arg)
|
rs1313783374
|
|
NM_000532.5(PCCB):c.596C>T (p.Pro199Leu)
|
|
|
NM_000532.5(PCCB):c.5C>A (p.Ala2Glu)
|
|
|
NM_000532.5(PCCB):c.5C>T (p.Ala2Val)
|
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys)
|
rs779033674
|
|
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe)
|
rs1553777582
|
|
NM_000532.5(PCCB):c.634G>A (p.Asp212Asn)
|
|
|
NM_000532.5(PCCB):c.641C>G (p.Thr214Arg)
|
rs375740942
|
|
NM_000532.5(PCCB):c.649G>A (p.Val217Ile)
|
rs2108182134
|
|
NM_000532.5(PCCB):c.64C>T (p.Arg22Cys)
|
|
|
NM_000532.5(PCCB):c.652A>C (p.Lys218Gln)
|
|
|
NM_000532.5(PCCB):c.652A>G (p.Lys218Glu)
|
|
|
NM_000532.5(PCCB):c.655-3C>G
|
|
|
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)
|
rs1052979420
|
|
NM_000532.5(PCCB):c.68C>T (p.Ala23Val)
|
|
|
NM_000532.5(PCCB):c.703A>G (p.Thr235Ala)
|
|
|
NM_000532.5(PCCB):c.714T>A (p.Asp238Glu)
|
|
|
NM_000532.5(PCCB):c.716T>A (p.Val239Asp)
|
|
|
NM_000532.5(PCCB):c.722A>T (p.Gln241Leu)
|
|
|
NM_000532.5(PCCB):c.730C>A (p.Leu244Ile)
|
|
|
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del)
|
rs1553778892
|
|
NM_000532.5(PCCB):c.73G>A (p.Val25Ile)
|
|
|
NM_000532.5(PCCB):c.742A>C (p.Lys248Gln)
|
|
|
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
|
rs1933813724
|
|
NM_000532.5(PCCB):c.751A>G (p.Thr251Ala)
|
|
|
NM_000532.5(PCCB):c.756_758del (p.Met253del)
|
|
|
NM_000532.5(PCCB):c.757A>G (p.Met253Val)
|
|
|
NM_000532.5(PCCB):c.763+3GA[4]
|
rs1553778916
|
|
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)
|
rs1553778909
|
|
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
|
rs1197317905
|
|
NM_000532.5(PCCB):c.793G>A (p.Val265Ile)
|
|
|
NM_000532.5(PCCB):c.799G>T (p.Ala267Ser)
|
|
|
NM_000532.5(PCCB):c.808A>G (p.Asn270Asp)
|
|
|
NM_000532.5(PCCB):c.809A>G (p.Asn270Ser)
|
rs1234137372
|
|
NM_000532.5(PCCB):c.811C>T (p.Leu271Phe)
|
|
|
NM_000532.5(PCCB):c.819T>G (p.Asp273Glu)
|
|
|
NM_000532.5(PCCB):c.821T>A (p.Phe274Tyr)
|
|
|
NM_000532.5(PCCB):c.821T>C (p.Phe274Ser)
|
|
|
NM_000532.5(PCCB):c.82C>T (p.Leu28Phe)
|
|
|
NM_000532.5(PCCB):c.830A>G (p.Tyr277Cys)
|
|
|
NM_000532.5(PCCB):c.830A>T (p.Tyr277Phe)
|
rs2108202806
|
|
NM_000532.5(PCCB):c.850G>A (p.Asp284Asn)
|
rs777434061
|
|
NM_000532.5(PCCB):c.854C>T (p.Pro285Leu)
|
|
|
NM_000532.5(PCCB):c.865C>A (p.Arg289Ser)
|
rs771935604
|
|
NM_000532.5(PCCB):c.866G>A (p.Arg289His)
|
rs532142254
|
|
NM_000532.5(PCCB):c.866G>C (p.Arg289Pro)
|
|
|
NM_000532.5(PCCB):c.875A>G (p.His292Arg)
|
rs2108202909
|
|
NM_000532.5(PCCB):c.877G>A (p.Asp293Asn)
|
rs183013046
|
|
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
|
rs752029455
|
|
NM_000532.5(PCCB):c.885-3A>C
|
|
|
NM_000532.5(PCCB):c.885-6C>G
|
|
|
NM_000532.5(PCCB):c.88A>G (p.Ser30Gly)
|
|
|
NM_000532.5(PCCB):c.890G>T (p.Arg297Leu)
|
rs147379583
|
|
NM_000532.5(PCCB):c.899C>T (p.Pro300Leu)
|
|
|
NM_000532.5(PCCB):c.913A>G (p.Ile305Val)
|
|
|
NM_000532.5(PCCB):c.919C>T (p.Pro307Ser)
|
|
|
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp)
|
rs1934256655
|
|
NM_000532.5(PCCB):c.93_94insTTC (p.Gln31_Ala32insPhe)
|
rs2108127897
|
|
NM_000532.5(PCCB):c.941A>C (p.Tyr314Ser)
|
rs148578333
|
|
NM_000532.5(PCCB):c.946A>G (p.Met316Val)
|
|
|
NM_000532.5(PCCB):c.94G>A (p.Ala32Thr)
|
rs751136139
|
|
NM_000532.5(PCCB):c.950T>G (p.Val317Gly)
|
|
|
NM_000532.5(PCCB):c.952G>T (p.Asp318Tyr)
|
|
|
NM_000532.5(PCCB):c.957C>G (p.Ile319Met)
|
rs868483670
|
|
NM_000532.5(PCCB):c.95C>T (p.Ala32Val)
|
rs2108127907
|
|
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe)
|
rs1034824113
|
|
NM_000532.5(PCCB):c.966+5G>A
|
rs1255284441
|
|
NM_000532.5(PCCB):c.972TGA[1] (p.Asp325del)
|
rs796052023
|
|
NM_000532.5(PCCB):c.979C>G (p.Arg327Gly)
|
|
|
NM_000532.5(PCCB):c.985T>G (p.Phe329Val)
|
|
|
NM_001001563.5(TIMM50):c.44T>G (p.Leu15Arg)
|
|
|
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile)
|
rs2079507347
|
|
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile)
|
rs2079508089
|
|
NM_001017989.3(OPA3):c.221del (p.Gly74fs)
|
rs779350552
|
|
NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter)
|
rs763348163
|
|
NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter)
|
rs780614894
|
|
NM_001017989.3(OPA3):c.268_270del (p.Phe90del)
|
rs755084544
|
|
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter)
|
rs1225701554
|
|
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter)
|
rs762247018
|
|
NM_001017989.3(OPA3):c.380del (p.Gly127fs)
|
rs1555730165
|
|
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter)
|
rs1555730159
|
|
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs)
|
rs1599947088
|
|
NM_001017989.3(OPA3):c.445del (p.Leu149fs)
|
rs780299639
|
|
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter)
|
rs1555730157
|
|
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs)
|
rs1599947052
|
|
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs)
|
rs1555730141
|
|
NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln)
|
rs1555730136
|
|
NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp)
|
rs375580763
|
|
NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer)
|
rs1555730133
|
|
NM_001081.4(CUBN):c.*177C>G
|
rs886046860
|
|
NM_001081.4(CUBN):c.*267A>T
|
rs1203238498
|
|
NM_001081.4(CUBN):c.*304G>T
|
rs2131292535
|
|
NM_001081.4(CUBN):c.*329C>G
|
rs376727720
|
|
NM_001081.4(CUBN):c.*329C>T
|
rs376727720
|
|
NM_001081.4(CUBN):c.*453A>G
|
rs1838716540
|
|
NM_001081.4(CUBN):c.*460C>A
|
rs1588559715
|
|
NM_001081.4(CUBN):c.*514T>G
|
rs886046854
|
|
NM_001081.4(CUBN):c.*794A>G
|
rs886046852
|
|
NM_001081.4(CUBN):c.*883G>A
|
rs886046851
|
|
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=)
|
rs147563157
|
|
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys)
|
rs1839164438
|
|
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu)
|
rs886046879
|
|
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys)
|
rs886046863
|
|
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys)
|
rs368511477
|
|
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser)
|
rs139051724
|
|
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe)
|
rs2131299558
|
|
NM_001081.4(CUBN):c.10752A>T (p.Pro3584=)
|
rs886046862
|
|
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr)
|
rs1838734881
|
|
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr)
|
rs564429505
|
|
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu)
|
rs780440368
|
|
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg)
|
rs2131869531
|
|
NM_001081.4(CUBN):c.2110+10C>G
|
rs752409034
|
|
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala)
|
rs2131865310
|
|
NM_001081.4(CUBN):c.2151T>C (p.Gly717=)
|
rs1836053318
|
|
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
|
|
|
NM_001081.4(CUBN):c.2447-15T>A
|
rs886046877
|
|
NM_001081.4(CUBN):c.2673C>T (p.Cys891=)
|
rs386833778
|
|
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr)
|
rs1042319182
|
|
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys)
|
rs2131844929
|
|
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg)
|
rs886046876
|
|
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr)
|
rs141740096
|
|
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser)
|
rs141740096
|
|
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val)
|
rs1835097031
|
|
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp)
|
rs189294363
|
|
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val)
|
rs1325181765
|
|
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp)
|
rs776683073
|
|
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=)
|
rs769326338
|
|
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala)
|
rs780012075
|
|
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg)
|
rs202053511
|
|
NM_001081.4(CUBN):c.4350+5G>A
|
rs200324164
|
|
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His)
|
rs1391948790
|
|
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val)
|
rs1482983523
|
|
NM_001081.4(CUBN):c.489+14T>C
|
rs886046882
|
|
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg)
|
rs1243565121
|
|
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys)
|
rs144943516
|
|
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly)
|
rs149164899
|
|
NM_001081.4(CUBN):c.5302A>G (p.Ile1768Val)
|
rs779378713
|
|
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu)
|
rs74116778
|
|
NM_001081.4(CUBN):c.5343-11C>T
|
rs777975604
|
|
NM_001081.4(CUBN):c.5343-6A>G
|
rs776579478
|
|
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met)
|
rs886046873
|
|
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln)
|
rs980358703
|
|
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu)
|
rs376970710
|
|
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr)
|
rs147617753
|
|
NM_001081.4(CUBN):c.5961A>G (p.Ala1987=)
|
rs886046872
|
|
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met)
|
rs368951850
|
|
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys)
|
rs141319759
|
|
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser)
|
rs569527072
|
|
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser)
|
rs942411004
|
|
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg)
|
rs1184270888
|
|
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu)
|
rs202229367
|
|
NM_001081.4(CUBN):c.7586G>A (p.Ser2529Asn)
|
rs886046868
|
|
NM_001081.4(CUBN):c.7798G>A (p.Glu2600Lys)
|
rs766806038
|
|
NM_001081.4(CUBN):c.7816C>A (p.Pro2606Thr)
|
rs886046867
|
|
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val)
|
rs2131430542
|
|
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys)
|
rs2131420801
|
|
NM_001081.4(CUBN):c.8233G>A (p.Asp2745Asn)
|
rs886046865
|
|
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu)
|
rs2131420669
|
|
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile)
|
rs886046881
|
|
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly)
|
rs138719573
|
|
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg)
|
rs544783535
|
|
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala)
|
rs1408193576
|
|
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala)
|
rs886046880
|
|
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln)
|
rs1432636083
|
|
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His)
|
rs1839305562
|
|
NM_001195087.2(GGACT):c.*1774G>A
|
rs41281124
|
|
NM_001195087.2(GGACT):c.*1873T>C
|
rs2088307404
|
|
NM_001243279.3(ACSF3):c.-8T>A
|
rs1210097201
|
|
NM_001243279.3(ACSF3):c.1016T>C (p.Val339Ala)
|
|
|
NM_001243279.3(ACSF3):c.1052T>C (p.Leu351Pro)
|
|
|
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)
|
rs761084443
|
|
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile)
|
rs387907120
|
|
NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu)
|
|
|
NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly)
|
rs144907664
|
|
NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys)
|
|
|
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)
|
rs1904713918
|
|
NM_001243279.3(ACSF3):c.1126+5G>A
|
|
|
NM_001243279.3(ACSF3):c.1126+5G>C
|
|
|
NM_001243279.3(ACSF3):c.1145T>C (p.Leu382Pro)
|
rs781134234
|
|
NM_001243279.3(ACSF3):c.1162C>T (p.Arg388Cys)
|
|
|
NM_001243279.3(ACSF3):c.11A>G (p.His4Arg)
|
|
|
NM_001243279.3(ACSF3):c.1280T>C (p.Val427Ala)
|
|
|
NM_001243279.3(ACSF3):c.1292C>A (p.Ser431Tyr)
|
rs1057520194
|
|
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro)
|
rs137995833
|
|
NM_001243279.3(ACSF3):c.1367-464C>T
|
rs2151560692
|
|
NM_001243279.3(ACSF3):c.1376T>C (p.Val459Ala)
|
|
|
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
|
|
|
NM_001243279.3(ACSF3):c.1402A>C (p.Ile468Leu)
|
|
|
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)
|
rs144681140
|
|
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)
|
rs377596983
|
|
NM_001243279.3(ACSF3):c.1494C>G (p.Ser498Arg)
|
|
|
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)
|
rs1187720594
|
|
NM_001243279.3(ACSF3):c.1500A>G (p.Thr500=)
|
|
|
NM_001243279.3(ACSF3):c.1501+4C>T
|
|
|
NM_001243279.3(ACSF3):c.1516G>A (p.Gly506Arg)
|
|
|
NM_001243279.3(ACSF3):c.1535G>T (p.Trp512Leu)
|
rs1450563045
|
|
NM_001243279.3(ACSF3):c.1555G>A (p.Val519Met)
|
|
|
NM_001243279.3(ACSF3):c.159T>G (p.Phe53Leu)
|
|
|
NM_001243279.3(ACSF3):c.1607G>C (p.Trp536Ser)
|
rs779820462
|
|
NM_001243279.3(ACSF3):c.1618G>C (p.Val540Leu)
|
rs570670205
|
|
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)
|
rs140328142
|
|
NM_001243279.3(ACSF3):c.1711A>G (p.Arg571Gly)
|
rs1448355025
|
|
NM_001243279.3(ACSF3):c.1715A>C (p.His572Pro)
|
|
|
NM_001243279.3(ACSF3):c.1720del (p.His574fs)
|
|
|
NM_001243279.3(ACSF3):c.198C>G (p.His66Gln)
|
|
|
NM_001243279.3(ACSF3):c.200C>T (p.Thr67Met)
|
|
|
NM_001243279.3(ACSF3):c.217T>C (p.Ser73Pro)
|
|
|
NM_001243279.3(ACSF3):c.220C>T (p.Arg74Cys)
|
|
|
NM_001243279.3(ACSF3):c.243G>C (p.Glu81Asp)
|
|
|
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)
|
rs373476048
|
|
NM_001243279.3(ACSF3):c.278T>G (p.Leu93Arg)
|
|
|
NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp)
|
rs530503915
|
|
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)
|
rs1299639090
|
|
NM_001243279.3(ACSF3):c.315_316delinsCT (p.Ala106Ser)
|
rs2151406892
|
|
NM_001243279.3(ACSF3):c.328G>A (p.Val110Met)
|
|
|
NM_001243279.3(ACSF3):c.32G>T (p.Arg11Leu)
|
rs781163359
|
|
NM_001243279.3(ACSF3):c.335A>C (p.Gln112Pro)
|
|
|
NM_001243279.3(ACSF3):c.371C>G (p.Pro124Arg)
|
rs1292276846
|
|
NM_001243279.3(ACSF3):c.399G>C (p.Gln133His)
|
rs370968781
|
|
NM_001243279.3(ACSF3):c.414C>G (p.Ile138Met)
|
|
|
NM_001243279.3(ACSF3):c.428G>T (p.Ser143Ile)
|
|
|
NM_001243279.3(ACSF3):c.44C>A (p.Ala15Asp)
|
|
|
NM_001243279.3(ACSF3):c.473C>T (p.Pro158Leu)
|
|
|
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)
|
rs747228733
|
|
NM_001243279.3(ACSF3):c.49G>A (p.Ala17Thr)
|
|
|
NM_001243279.3(ACSF3):c.538G>C (p.Glu180Gln)
|
|
|
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys)
|
rs1567685421
|
|
NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu)
|
rs376098216
|
|
NM_001243279.3(ACSF3):c.58C>T (p.Arg20Trp)
|
|
|
NM_001243279.3(ACSF3):c.623G>A (p.Arg208Lys)
|
|
|
NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln)
|
rs538548478
|
|
NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro)
|
|
|
NM_001243279.3(ACSF3):c.667-9C>T
|
rs369865917
|
|
NM_001243279.3(ACSF3):c.671C>T (p.Thr224Ile)
|
|
|
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp)
|
rs1597898108
|
|
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)
|
rs765454020
|
|
NM_001243279.3(ACSF3):c.709G>A (p.Val237Met)
|
|
|
NM_001243279.3(ACSF3):c.743A>G (p.His248Arg)
|
|
|
NM_001243279.3(ACSF3):c.746G>A (p.Gly249Asp)
|
|
|
NM_001243279.3(ACSF3):c.755A>G (p.Asn252Ser)
|
|
|
NM_001243279.3(ACSF3):c.755A>T (p.Asn252Ile)
|
|
|
NM_001243279.3(ACSF3):c.757G>A (p.Ala253Thr)
|
|
|
NM_001243279.3(ACSF3):c.758C>A (p.Ala253Glu)
|
|
|
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)
|
rs1277612080
|
|
NM_001243279.3(ACSF3):c.799A>G (p.Met267Val)
|
|
|
NM_001243279.3(ACSF3):c.845C>G (p.Ser282Cys)
|
|
|
NM_001243279.3(ACSF3):c.851C>T (p.Thr284Met)
|
|
|
NM_001243279.3(ACSF3):c.856C>T (p.Arg286Trp)
|
|
|
NM_001243279.3(ACSF3):c.862A>G (p.Asn288Asp)
|
|
|
NM_001243279.3(ACSF3):c.880C>T (p.Pro294Ser)
|
|
|
NM_001243279.3(ACSF3):c.915C>G (p.Asp305Glu)
|
|
|
NM_001243279.3(ACSF3):c.91C>T (p.Leu31Phe)
|
rs1975195262
|
|
NM_001243279.3(ACSF3):c.92T>C (p.Leu31Pro)
|
|
|
NM_001243279.3(ACSF3):c.952C>A (p.Arg318Ser)
|
|
|
NM_001243279.3(ACSF3):c.952C>T (p.Arg318Cys)
|
|
|
NM_001258392.3(CLPB):c.1008T>G (p.Asn336Lys)
|
rs2135512797
|
|
NM_001258392.3(CLPB):c.1024G>A (p.Glu342Lys)
|
|
|
NM_001258392.3(CLPB):c.1027C>T (p.His343Tyr)
|
|
|
NM_001258392.3(CLPB):c.1067-3T>C
|
|
|
NM_001258392.3(CLPB):c.1094C>A (p.Ala365Asp)
|
|
|
NM_001258392.3(CLPB):c.109G>C (p.Val37Leu)
|
rs773901608
|
|
NM_001258392.3(CLPB):c.1102A>G (p.Met368Val)
|
|
|
NM_001258392.3(CLPB):c.1123-3C>A
|
|
|
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys)
|
rs1949671839
|
|
NM_001258392.3(CLPB):c.1164C>G (p.His388Gln)
|
rs202009794
|
|
NM_001258392.3(CLPB):c.1167+3G>T
|
|
|
NM_001258392.3(CLPB):c.1168-3C>G
|
|
|
NM_001258392.3(CLPB):c.1181T>C (p.Ile394Thr)
|
|
|
NM_001258392.3(CLPB):c.1184G>A (p.Gly395Glu)
|
|
|
NM_001258392.3(CLPB):c.1201G>A (p.Val401Ile)
|
|
|
NM_001258392.3(CLPB):c.1202T>C (p.Val401Ala)
|
rs138691107
|
|
NM_001258392.3(CLPB):c.1205G>C (p.Gly402Ala)
|
|
|
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val)
|
rs1590764241
|
|
NM_001258392.3(CLPB):c.1252A>C (p.Asn418His)
|
|
|
NM_001258392.3(CLPB):c.1283A>G (p.Lys428Arg)
|
|
|
NM_001258392.3(CLPB):c.1291C>T (p.Pro431Ser)
|
|
|
NM_001258392.3(CLPB):c.1297G>A (p.Val433Met)
|
|
|
NM_001258392.3(CLPB):c.1300C>T (p.Leu434Phe)
|
rs758030499
|
|
NM_001258392.3(CLPB):c.131A>C (p.Glu44Ala)
|
|
|
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly)
|
rs1365431764
|
|
NM_001258392.3(CLPB):c.1413G>C (p.Glu471Asp)
|
rs780612425
|
|
NM_001258392.3(CLPB):c.1417G>A (p.Ala473Thr)
|
|
|
NM_001258392.3(CLPB):c.1427C>A (p.Ala476Glu)
|
rs2135487981
|
|
NM_001258392.3(CLPB):c.142C>G (p.Leu48Val)
|
rs1856650498
|
|
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys)
|
rs143522576
|
|
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys)
|
rs779812366
|
|
NM_001258392.3(CLPB):c.1484T>C (p.Leu495Pro)
|
|
|
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=)
|
rs1949534031
|
|
NM_001258392.3(CLPB):c.1489G>A (p.Asp497Asn)
|
|
|
NM_001258392.3(CLPB):c.1489G>C (p.Asp497His)
|
rs918777173
|
|
NM_001258392.3(CLPB):c.148G>T (p.Val50Leu)
|
|
|
NM_001258392.3(CLPB):c.1492G>A (p.Val498Ile)
|
rs2135486440
|
|
NM_001258392.3(CLPB):c.1495C>A (p.Gln499Lys)
|
|
|
NM_001258392.3(CLPB):c.1497G>C (p.Gln499His)
|
rs577566573
|
|
NM_001258392.3(CLPB):c.1514C>G (p.Thr505Ser)
|
rs200812003
|
|
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile)
|
rs200812003
|
|
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu)
|
rs778078736
|
|
NM_001258392.3(CLPB):c.1552A>C (p.Ile518Leu)
|
|
|
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val)
|
rs1949516441
|
|
NM_001258392.3(CLPB):c.1574G>A (p.Arg525Lys)
|
|
|
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys)
|
rs1590753263
|
|
NM_001258392.3(CLPB):c.157G>A (p.Gly53Arg)
|
|
|
NM_001258392.3(CLPB):c.157G>T (p.Gly53Trp)
|
|
|
NM_001258392.3(CLPB):c.158G>C (p.Gly53Ala)
|
|
|
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)
|
rs1949512456
|
|
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
|
rs1590753221
|
|
NM_001258392.3(CLPB):c.1598A>G (p.Asn533Ser)
|
|
|
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser)
|
rs150857620
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
NM_001258392.3(CLPB):c.1610A>T (p.Tyr537Phe)
|
|
|
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp)
|
rs1430716011
|
|
NM_001258392.3(CLPB):c.1632G>A (p.Ser544=)
|
|
|
NM_001258392.3(CLPB):c.1640T>C (p.Ile547Thr)
|
|
|
NM_001258392.3(CLPB):c.1648G>A (p.Val550Ile)
|
|
|
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile)
|
rs1949509947
|
|
NM_001258392.3(CLPB):c.1677G>T (p.Lys559Asn)
|
rs2135485638
|
|
NM_001258392.3(CLPB):c.1680+2dup
|
|
|
NM_001258392.3(CLPB):c.1680+6A>C
|
rs1949509457
|
|
NM_001258392.3(CLPB):c.1681-3C>T
|
|
|
NM_001258392.3(CLPB):c.1718G>C (p.Arg573Pro)
|
rs765245566
|
|
NM_001258392.3(CLPB):c.1720G>A (p.Glu574Lys)
|
|
|
NM_001258392.3(CLPB):c.1727C>G (p.Ala576Gly)
|
|
|
NM_001258392.3(CLPB):c.1750A>G (p.Asn584Asp)
|
|
|
NM_001258392.3(CLPB):c.1758C>G (p.His586Gln)
|
rs2135484836
|
|
NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys)
|
rs2135484821
|
|
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
|
|
|
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys)
|
rs369227883
|
|
NM_001258392.3(CLPB):c.1799T>C (p.Val600Ala)
|
|
|
NM_001258392.3(CLPB):c.17T>A (p.Val6Glu)
|
|
|
NM_001258392.3(CLPB):c.1817C>T (p.Ala606Val)
|
|
|
NM_001258392.3(CLPB):c.1823A>G (p.Tyr608Cys)
|
|
|
NM_001258392.3(CLPB):c.182C>T (p.Ala61Val)
|
rs767517671
|
|
NM_001258392.3(CLPB):c.1832A>T (p.Asp611Val)
|
rs767839493
|
|
NM_001258392.3(CLPB):c.1847G>C (p.Gly616Ala)
|
rs759500860
|
|
NM_001258392.3(CLPB):c.1858C>T (p.Arg620Cys)
|
|
|
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His)
|
rs137882645
|
|
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu)
|
rs137882645
|
|
NM_001258392.3(CLPB):c.1861A>G (p.Ile621Val)
|
rs755357754
|
|
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln)
|
rs1949489503
|
|
NM_001258392.3(CLPB):c.1909C>T (p.Pro637Ser)
|
|
|
NM_001258392.3(CLPB):c.1910C>G (p.Pro637Arg)
|
|
|
NM_001258392.3(CLPB):c.1920G>C (p.Gln640His)
|
|
|
NM_001258392.3(CLPB):c.1930C>T (p.Arg644Cys)
|
|
|
NM_001258392.3(CLPB):c.1931G>A (p.Arg644His)
|
|
|
NM_001258392.3(CLPB):c.193G>A (p.Gly65Arg)
|
rs368496010
|
|
NM_001258392.3(CLPB):c.193G>C (p.Gly65Arg)
|
|
|
NM_001258392.3(CLPB):c.1940A>G (p.Lys647Arg)
|
|
|
NM_001258392.3(CLPB):c.1945C>T (p.Arg649Cys)
|
|
|
NM_001258392.3(CLPB):c.1959C>G (p.Ile653Met)
|
|
|
NM_001258392.3(CLPB):c.1960G>A (p.Asp654Asn)
|
|
|
NM_001258392.3(CLPB):c.1972A>G (p.Lys658Glu)
|
|
|
NM_001258392.3(CLPB):c.1976C>G (p.Thr659Ser)
|
|
|
NM_001258392.3(CLPB):c.1981A>G (p.Arg661Gly)
|
rs2135483452
|
|
NM_001258392.3(CLPB):c.2009_2010del (p.Pro670fs)
|
|
|
NM_001258392.3(CLPB):c.2021G>A (p.Cys674Tyr)
|
|
|
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe)
|
rs372096809
|
|
NM_001258392.3(CLPB):c.2023_*4del (p.Asn675fs)
|
rs1362604874
|
|
NM_001258392.3(CLPB):c.202G>A (p.Ala68Thr)
|
|
|
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp)
|
rs1949484806
|
|
NM_001258392.3(CLPB):c.2034del (p.Ter678TyrextTer?)
|
|
|
NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu)
|
rs746191886
|
|
NM_001258392.3(CLPB):c.209C>A (p.Thr70Asn)
|
|
|
NM_001258392.3(CLPB):c.211G>T (p.Gly71Trp)
|
|
|
NM_001258392.3(CLPB):c.212G>A (p.Gly71Glu)
|
|
|
NM_001258392.3(CLPB):c.217C>A (p.Arg73Ser)
|
|
|
NM_001258392.3(CLPB):c.229C>G (p.Arg77Gly)
|
|
|
NM_001258392.3(CLPB):c.230G>C (p.Arg77Pro)
|
|
|
NM_001258392.3(CLPB):c.242A>G (p.Lys81Arg)
|
rs1293473561
|
|
NM_001258392.3(CLPB):c.253G>A (p.Ala85Thr)
|
|
|
NM_001258392.3(CLPB):c.256_261del (p.Ala86_Thr87del)
|
rs1565108155
|
|
NM_001258392.3(CLPB):c.257C>T (p.Ala86Val)
|
rs2135181668
|
|
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile)
|
rs1424542665
|
|
NM_001258392.3(CLPB):c.271C>T (p.Leu91Phe)
|
|
|
NM_001258392.3(CLPB):c.278G>A (p.Gly93Asp)
|
|
|
NM_001258392.3(CLPB):c.278G>C (p.Gly93Ala)
|
|
|
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly)
|
rs1856636073
|
|
NM_001258392.3(CLPB):c.328A>G (p.Arg110Gly)
|
|
|
NM_001258392.3(CLPB):c.343A>C (p.Met115Leu)
|
|
|
NM_001258392.3(CLPB):c.343A>G (p.Met115Val)
|
rs755190312
|
|
NM_001258392.3(CLPB):c.34C>G (p.Leu12Val)
|
|
|
NM_001258392.3(CLPB):c.350C>T (p.Ala117Val)
|
rs563749368
|
|
NM_001258392.3(CLPB):c.354_355delinsCT (p.Ala119Ser)
|
|
|
NM_001258392.3(CLPB):c.361G>A (p.Ala121Thr)
|
|
|
NM_001258392.3(CLPB):c.361G>T (p.Ala121Ser)
|
|
|
NM_001258392.3(CLPB):c.373C>G (p.His125Asp)
|
|
|
NM_001258392.3(CLPB):c.380A>G (p.Tyr127Cys)
|
|
|
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg)
|
rs745934487
|
|
NM_001258392.3(CLPB):c.391C>A (p.Pro131Thr)
|
|
|
NM_001258392.3(CLPB):c.395C>T (p.Ser132Phe)
|
|
|
NM_001258392.3(CLPB):c.403+6T>C
|
rs944669671
|
|
NM_001258392.3(CLPB):c.403G>A (p.Asp135Asn)
|
|
|
NM_001258392.3(CLPB):c.406G>A (p.Ala136Thr)
|
|
|
NM_001258392.3(CLPB):c.413T>C (p.Leu138Pro)
|
rs1384482038
|
|
NM_001258392.3(CLPB):c.419A>C (p.Glu140Ala)
|
|
|
NM_001258392.3(CLPB):c.41C>T (p.Pro14Leu)
|
rs1194145425
|
|
NM_001258392.3(CLPB):c.422C>T (p.Ala141Val)
|
rs1219520636
|
|
NM_001258392.3(CLPB):c.427C>A (p.Arg143Ser)
|
|
|
NM_001258392.3(CLPB):c.428G>A (p.Arg143His)
|
|
|
NM_001258392.3(CLPB):c.451A>G (p.Ser151Gly)
|
|
|
NM_001258392.3(CLPB):c.452G>A (p.Ser151Asn)
|
|
|
NM_001258392.3(CLPB):c.455G>A (p.Arg152Lys)
|
|
|
NM_001258392.3(CLPB):c.491A>C (p.His164Pro)
|
|
|
NM_001258392.3(CLPB):c.491A>G (p.His164Arg)
|
|
|
NM_001258392.3(CLPB):c.497T>G (p.Leu166Arg)
|
rs2135083426
|
|
NM_001258392.3(CLPB):c.506C>T (p.Thr169Ile)
|
|
|
NM_001258392.3(CLPB):c.50T>G (p.Leu17Arg)
|
|
|
NM_001258392.3(CLPB):c.517G>A (p.Val173Met)
|
|
|
NM_001258392.3(CLPB):c.533G>A (p.Arg178Gln)
|
|
|
NM_001258392.3(CLPB):c.538A>G (p.Asn180Asp)
|
|
|
NM_001258392.3(CLPB):c.539A>G (p.Asn180Ser)
|
|
|
NM_001258392.3(CLPB):c.546G>A (p.Val182=)
|
rs1854871823
|
|
NM_001258392.3(CLPB):c.547G>A (p.Val183Ile)
|
|
|
NM_001258392.3(CLPB):c.553G>C (p.Val185Leu)
|
|
|
NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln)
|
rs1856655686
|
|
NM_001258392.3(CLPB):c.578C>T (p.Pro193Leu)
|
rs2135677270
|
|
NM_001258392.3(CLPB):c.599G>A (p.Ser200Asn)
|
|
|
NM_001258392.3(CLPB):c.665A>G (p.Asp222Gly)
|
|
|
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met)
|
rs1284671735
|
|
NM_001258392.3(CLPB):c.689A>T (p.Asn230Ile)
|
|
|
NM_001258392.3(CLPB):c.694G>C (p.Ala232Pro)
|
|
|
NM_001258392.3(CLPB):c.709T>G (p.Cys237Gly)
|
|
|
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr)
|
rs886041117
|
|
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys)
|
rs777313457
|
|
NM_001258392.3(CLPB):c.733C>G (p.Leu245Val)
|
|
|
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys)
|
rs146762466
|
|
NM_001258392.3(CLPB):c.749G>A (p.Arg250His)
|
|
|
NM_001258392.3(CLPB):c.760_761inv (p.Glu254Ser)
|
|
|
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro)
|
rs1555098495
|
|
NM_001258392.3(CLPB):c.782A>T (p.Asn261Ile)
|
|
|
NM_001258392.3(CLPB):c.784C>A (p.Pro262Thr)
|
|
|
NM_001258392.3(CLPB):c.79C>T (p.Arg27Trp)
|
|
|
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val)
|
rs1390365704
|
|
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg)
|
rs757880862
|
|
NM_001258392.3(CLPB):c.839A>C (p.Glu280Ala)
|
|
|
NM_001258392.3(CLPB):c.850C>T (p.Leu284Phe)
|
|
|
NM_001258392.3(CLPB):c.860C>T (p.Thr287Ile)
|
rs1318523407
|
|
NM_001258392.3(CLPB):c.877C>A (p.Gln293Lys)
|
rs1949961706
|
|
NM_001258392.3(CLPB):c.886C>G (p.Gln296Glu)
|
|
|
NM_001258392.3(CLPB):c.88G>A (p.Gly30Arg)
|
|
|
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro)
|
rs547532550
|
|
NM_001258392.3(CLPB):c.896G>T (p.Arg299Leu)
|
|
|
NM_001258392.3(CLPB):c.905A>G (p.Glu302Gly)
|
rs745539947
|
|
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
|
rs144712077
|
|
NM_001258392.3(CLPB):c.908A>T (p.Glu303Val)
|
rs144712077
|
|
NM_001258392.3(CLPB):c.917G>A (p.Arg306His)
|
|
|
NM_001258392.3(CLPB):c.925C>G (p.Leu309Val)
|
rs941057831
|
|
NM_001258392.3(CLPB):c.937C>G (p.Leu313Val)
|
|
|
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val)
|
rs1590786067
|
|
NM_001258392.3(CLPB):c.95C>T (p.Ala32Val)
|
|
|
NM_001258392.3(CLPB):c.967G>T (p.Ala323Ser)
|
|
|
NM_001258392.3(CLPB):c.971T>A (p.Ile324Asn)
|
|
|
NM_001258392.3(CLPB):c.973G>A (p.Ala325Thr)
|
|
|
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp)
|
rs1565433670
|
|
NM_001258392.3(CLPB):c.988G>A (p.Ala330Thr)
|
rs2135527446
|
|
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly)
|
rs144942416
|
|
NM_001258392.3(CLPB):c.992T>C (p.Ile331Thr)
|
rs2135512844
|
|
NM_001258392.3(CLPB):c.995G>A (p.Arg332Gln)
|
|
|
NM_001352514.2(HLCS):c.*1614dup
|
rs886057068
|
|
NM_001352514.2(HLCS):c.*1997G>A
|
rs886057066
|
|
NM_001352514.2(HLCS):c.*2023G>A
|
rs886057065
|
|
NM_001352514.2(HLCS):c.*2267G>T
|
rs886057064
|
|
NM_001352514.2(HLCS):c.*2285G>A
|
rs886057063
|
|
NM_001352514.2(HLCS):c.*2647T>A
|
rs2089366675
|
|
NM_001352514.2(HLCS):c.*270dup
|
rs886057074
|
|
NM_001352514.2(HLCS):c.*2952CT[1]
|
rs886057061
|
|
NM_001352514.2(HLCS):c.*3050A>G
|
rs2089352875
|
|
NM_001352514.2(HLCS):c.*305T>C
|
rs2089455426
|
|
NM_001352514.2(HLCS):c.*3161G>T
|
rs886057060
|
|
NM_001352514.2(HLCS):c.*3162T>A
|
rs552016201
|
|
NM_001352514.2(HLCS):c.*3175A>G
|
rs2089348881
|
|
NM_001352514.2(HLCS):c.*3226del
|
rs35955622
|
|
NM_001352514.2(HLCS):c.*3226dup
|
rs35955622
|
|
NM_001352514.2(HLCS):c.1003G>A (p.Asp335Asn)
|
|
|
NM_001352514.2(HLCS):c.1030C>T (p.Leu344Phe)
|
|
|
NM_001352514.2(HLCS):c.1058T>C (p.Leu353Pro)
|
|
|
NM_001352514.2(HLCS):c.1081T>C (p.Cys361Arg)
|
|
|
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe)
|
rs1569216588
|
|
NM_001352514.2(HLCS):c.1102A>C (p.Thr368Pro)
|
|
|
NM_001352514.2(HLCS):c.1123G>C (p.Asp375His)
|
|
|
NM_001352514.2(HLCS):c.1132C>G (p.Gln378Glu)
|
|
|
NM_001352514.2(HLCS):c.1148A>G (p.Tyr383Cys)
|
|
|
NM_001352514.2(HLCS):c.1150C>A (p.Leu384Ile)
|
rs538157231
|
|
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)
|
rs1601802008
|
|
NM_001352514.2(HLCS):c.1264G>A (p.Ala422Thr)
|
|
|
NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys)
|
|
|
NM_001352514.2(HLCS):c.1295T>C (p.Leu432Ser)
|
|
|
NM_001352514.2(HLCS):c.1312T>C (p.Tyr438His)
|
|
|
NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala)
|
|
|
NM_001352514.2(HLCS):c.1342G>C (p.Gly448Arg)
|
|
|
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg)
|
rs748444836
|
|
NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg)
|
rs748444836
|
|
NM_001352514.2(HLCS):c.1414G>T (p.Gly472Trp)
|
|
|
NM_001352514.2(HLCS):c.1436A>G (p.Gln479Arg)
|
rs899013389
|
|
NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu)
|
|
|
NM_001352514.2(HLCS):c.1535G>A (p.Arg512Lys)
|
rs747688148
|
|
NM_001352514.2(HLCS):c.1535G>C (p.Arg512Thr)
|
|
|
NM_001352514.2(HLCS):c.1612G>A (p.Ala538Thr)
|
|
|
NM_001352514.2(HLCS):c.1631A>T (p.Asp544Val)
|
|
|
NM_001352514.2(HLCS):c.1658A>G (p.His553Arg)
|
rs2146336242
|
|
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)
|
rs771923409
|
|
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr)
|
rs770873445
|
|
NM_001352514.2(HLCS):c.1697C>G (p.Ser566Cys)
|
|
|
NM_001352514.2(HLCS):c.1721T>A (p.Val574Glu)
|
|
|
NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser)
|
|
|
NM_001352514.2(HLCS):c.1774G>A (p.Ala592Thr)
|
rs987805504
|
|
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu)
|
rs973578825
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
NM_001352514.2(HLCS):c.1879C>T (p.Arg627Cys)
|
|
|
NM_001352514.2(HLCS):c.1880G>A (p.Arg627His)
|
|
|
NM_001352514.2(HLCS):c.1909C>T (p.Pro637Ser)
|
rs2145777265
|
|
NM_001352514.2(HLCS):c.1920G>A (p.Met640Ile)
|
rs2145777174
|
|
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val)
|
rs1173267062
|
|
NM_001352514.2(HLCS):c.1936G>A (p.Ala646Thr)
|
|
|
NM_001352514.2(HLCS):c.1937C>T (p.Ala646Val)
|
|
|
NM_001352514.2(HLCS):c.1942C>T (p.Arg648Trp)
|
|
|
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)
|
rs1555885056
|
|
NM_001352514.2(HLCS):c.1967G>A (p.Gly656Glu)
|
|
|
NM_001352514.2(HLCS):c.1970G>C (p.Gly657Ala)
|
|
|
NM_001352514.2(HLCS):c.1977G>A (p.Val659=)
|
rs886057075
|
|
NM_001352514.2(HLCS):c.2057C>T (p.Pro686Leu)
|
|
|
NM_001352514.2(HLCS):c.2080G>A (p.Val694Met)
|
|
|
NM_001352514.2(HLCS):c.2087T>C (p.Val696Ala)
|
|
|
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala)
|
rs2089755704
|
|
NM_001352514.2(HLCS):c.2210T>C (p.Met737Thr)
|
|
|
NM_001352514.2(HLCS):c.2215G>A (p.Glu739Lys)
|
|
|
NM_001352514.2(HLCS):c.2230C>T (p.Leu744Phe)
|
|
|
NM_001352514.2(HLCS):c.2246T>G (p.Phe749Cys)
|
|
|
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met)
|
rs1555882115
|
|
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg)
|
rs1601100788
|
|
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)
|
rs1555882090
|
|
NM_001352514.2(HLCS):c.2291T>A (p.Ile764Asn)
|
rs2145731806
|
|
NM_001352514.2(HLCS):c.2330C>T (p.Pro777Leu)
|
|
|
NM_001352514.2(HLCS):c.2347C>G (p.Leu783Val)
|
|
|
NM_001352514.2(HLCS):c.2360T>C (p.Val787Ala)
|
|
|
NM_001352514.2(HLCS):c.2368G>A (p.Val790Met)
|
|
|
NM_001352514.2(HLCS):c.2413A>G (p.Ser805Gly)
|
rs755620019
|
|
NM_001352514.2(HLCS):c.2418C>T (p.Val806=)
|
rs759416272
|
|
NM_001352514.2(HLCS):c.2450+1_2450+2del
|
rs2089602804
|
|
NM_001352514.2(HLCS):c.2450+4A>G
|
|
|
NM_001352514.2(HLCS):c.2460A>C (p.Gln820His)
|
|
|
NM_001352514.2(HLCS):c.2476G>T (p.Ala826Ser)
|
rs376898721
|
|
NM_001352514.2(HLCS):c.2495C>T (p.Ser832Phe)
|
|
|
NM_001352514.2(HLCS):c.2501T>C (p.Val834Ala)
|
rs2123556320
|
|
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup)
|
rs773191073
|
|
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
|
rs767700692
|
|
NM_001352514.2(HLCS):c.2551G>A (p.Val851Ile)
|
|
|
NM_001352514.2(HLCS):c.2567del (p.Pro856fs)
|
rs1555880930
|
|
NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser)
|
|
|
NM_001352514.2(HLCS):c.2581T>G (p.Phe861Val)
|
|
|
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs)
|
rs1555880894
|
|
NM_001352514.2(HLCS):c.2600del (p.Leu867fs)
|
rs761447836
|
|
NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe)
|
|
|
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs)
|
rs774356408
|
|
NM_001352514.2(HLCS):c.2614C>T (p.Arg872Trp)
|
|
|
NM_001352514.2(HLCS):c.2618G>A (p.Arg873Gln)
|
|
|
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu)
|
rs764841449
|
|
NM_001352514.2(HLCS):c.449A>G (p.Asp150Gly)
|
rs761490181
|
|
NM_001352514.2(HLCS):c.458A>G (p.His153Arg)
|
|
|
NM_001352514.2(HLCS):c.460A>G (p.Met154Val)
|
|
|
NM_001352514.2(HLCS):c.463G>A (p.Asp155Asn)
|
|
|
NM_001352514.2(HLCS):c.481C>G (p.Gln161Glu)
|
|
|
NM_001352514.2(HLCS):c.485A>C (p.Lys162Thr)
|
|
|
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met)
|
rs886057079
|
|
NM_001352514.2(HLCS):c.491T>C (p.Val164Ala)
|
rs2146535803
|
|
NM_001352514.2(HLCS):c.493+9C>A
|
rs886057078
|
|
NM_001352514.2(HLCS):c.494-25TC[4]
|
rs146532042
|
|
NM_001352514.2(HLCS):c.495G>A (p.Ser165=)
|
rs1254077652
|
|
NM_001352514.2(HLCS):c.497T>C (p.Val166Ala)
|
|
|
NM_001352514.2(HLCS):c.503T>G (p.Leu168Trp)
|
|
|
NM_001352514.2(HLCS):c.504G>T (p.Leu168Phe)
|
|
|
NM_001352514.2(HLCS):c.526G>C (p.Val176Leu)
|
|
|
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
|
rs565756796
|
|
NM_001352514.2(HLCS):c.586C>T (p.Leu196Phe)
|
|
|
NM_001352514.2(HLCS):c.599C>T (p.Pro200Leu)
|
|
|
NM_001352514.2(HLCS):c.652G>A (p.Glu218Lys)
|
rs2066934793
|
|
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
|
rs765150200
|
|
NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe)
|
rs2066926744
|
|
NM_001352514.2(HLCS):c.809C>T (p.Ala270Val)
|
|
|
NM_001352514.2(HLCS):c.832C>T (p.Leu278Phe)
|
|
|
NM_001352514.2(HLCS):c.853A>G (p.Ser285Gly)
|
|
|
NM_001352514.2(HLCS):c.908A>T (p.Asn303Ile)
|
rs912685138
|
|
NM_001352514.2(HLCS):c.909C>A (p.Asn303Lys)
|
|
|
NM_001352514.2(HLCS):c.919A>G (p.Lys307Glu)
|
|
|
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser)
|
rs778638155
|
|
NM_001352514.2(HLCS):c.946G>T (p.Gly316Cys)
|
|
|
NM_001352514.2(HLCS):c.952G>A (p.Asp318Asn)
|
|
|
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
|
rs368754318
|
|
NM_001370658.1(BTD):c.*159G>A
|
rs530872564
|
|
NM_001370658.1(BTD):c.-16-2A>G
|
|
|
NM_001370658.1(BTD):c.-17+19_-17+39del
|
rs1559571027
|
|
NM_001370658.1(BTD):c.-18A>G
|
|
|
NM_001370658.1(BTD):c.-45A>T
|
rs540641302
|
|
NM_001370658.1(BTD):c.-51G>T
|
|
|
NM_001370658.1(BTD):c.-58G>A
|
rs1553646827
|
|
NM_001370658.1(BTD):c.-59T>C
|
rs768258310
|
|
NM_001370658.1(BTD):c.-60A>G
|
rs1553646820
|
|
NM_001370658.1(BTD):c.1001C>T (p.Thr334Met)
|
|
|
NM_001370658.1(BTD):c.1068G>C (p.Gln356His)
|
|
|
NM_001370658.1(BTD):c.1076A>G (p.His359Arg)
|
rs763540316
|
|
NM_001370658.1(BTD):c.1102G>A (p.Val368Met)
|
|
|
NM_001370658.1(BTD):c.1110TCC[1] (p.Pro372del)
|
|
|
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser)
|
rs886058116
|
|
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del)
|
rs2065654912
|
|
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu)
|
rs1295528438
|
|
NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys)
|
|
|
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala)
|
rs1553654038
|
|
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)
|
rs374141881
|
|
NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)
|
|
|
NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu)
|
rs2125504798
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1199A>G (p.Asn400Ser)
|
|
|
NM_001370658.1(BTD):c.1205T>C (p.Leu402Pro)
|
rs2125504955
|
|
NM_001370658.1(BTD):c.1226A>C (p.Glu409Ala)
|
rs2125505114
|
|
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)
|
rs1553654107
|
|
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)
|
rs776369447
|
|
NM_001370658.1(BTD):c.1268T>A (p.Phe423Tyr)
|
|
|
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)
|
rs397514402
|
|
NM_001370658.1(BTD):c.1286T>C (p.Val429Ala)
|
rs2065663213
|
|
NM_001370658.1(BTD):c.1289A>C (p.His430Pro)
|
rs559136372
|
|
NM_001370658.1(BTD):c.1298A>C (p.Tyr433Ser)
|
rs2125505641
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
NM_001370658.1(BTD):c.1325G>A (p.Arg442Lys)
|
rs2125505856
|
|
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)
|
rs397514421
|
|
NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly)
|
|
|
NM_001370658.1(BTD):c.1376C>T (p.Thr459Met)
|
|
|
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)
|
rs750598655
|
|
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser)
|
rs886058117
|
|
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)
|
rs774018881
|
|
NM_001370658.1(BTD):c.1459G>A (p.Glu487Lys)
|
|
|
NM_001370658.1(BTD):c.1468G>A (p.Asp490Asn)
|
|
|
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)
|
rs199859507
|
|
NM_001370658.1(BTD):c.14G>T (p.Arg5Ile)
|
|
|
NM_001370658.1(BTD):c.1503del (p.Arg502fs)
|
rs1163419871
|
|
NM_001370658.1(BTD):c.1522T>C (p.Ser508Pro)
|
|
|
NM_001370658.1(BTD):c.1538C>T (p.Ala513Val)
|
|
|
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro)
|
rs2065326975
|
|
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)
|
rs397507171
|
|
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)
|
rs397514346
|
|
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)
|
rs397514347
|
|
NM_001370658.1(BTD):c.195C>T (p.Leu65=)
|
rs2125454784
|
|
NM_001370658.1(BTD):c.239C>T (p.Ala80Val)
|
rs1553652171
|
|
NM_001370658.1(BTD):c.249+5G>T
|
rs2065329555
|
|
NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)
|
|
|
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)
|
rs1553653070
|
|
NM_001370658.1(BTD):c.286C>T (p.His96Tyr)
|
rs776422082
|
|
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)
|
rs397514354
|
|
NM_001370658.1(BTD):c.33C>A (p.Phe11Leu)
|
|
|
NM_001370658.1(BTD):c.340T>C (p.Ser114Pro)
|
|
|
NM_001370658.1(BTD):c.347A>G (p.Gln116Arg)
|
|
|
NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)
|
|
|
NM_001370658.1(BTD):c.369C>G (p.Cys123Trp)
|
|
|
NM_001370658.1(BTD):c.373G>C (p.Glu125Gln)
|
|
|
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly)
|
rs137877018
|
|
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)
|
rs144717999
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
NM_001370658.1(BTD):c.423G>A (p.Met141Ile)
|
|
|
NM_001370658.1(BTD):c.444C>A (p.Phe148Leu)
|
rs184742694
|
|
NM_001370658.1(BTD):c.449T>C (p.Val150Ala)
|
|
|
NM_001370658.1(BTD):c.490C>T (p.Pro164Ser)
|
|
|
NM_001370658.1(BTD):c.494G>A (p.Arg165Lys)
|
|
|
NM_001370658.1(BTD):c.498C>G (p.Cys166Trp)
|
rs2125500615
|
|
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly)
|
rs139829181
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
|
|
|
NM_001370658.1(BTD):c.557T>G (p.Leu186Arg)
|
|
|
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del)
|
rs1553653699
|
|
NM_001370658.1(BTD):c.719A>C (p.Asp240Ala)
|
|
|
NM_001370658.1(BTD):c.721_723del (p.Tyr241del)
|
rs1553653835
|
|
NM_001370658.1(BTD):c.727G>T (p.Val243Leu)
|
|
|
NM_001370658.1(BTD):c.737T>A (p.Val246Asp)
|
|
|
NM_001370658.1(BTD):c.750_752delinsCTA (p.Ala251Tyr)
|
|
|
NM_001370658.1(BTD):c.765G>C (p.Gln255His)
|
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.784A>T (p.Ile262Phe)
|
rs549204682
|
|
NM_001370658.1(BTD):c.795G>C (p.Gln265His)
|
rs1553653855
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
NM_001370658.1(BTD):c.817G>A (p.Gly273Ser)
|
rs762757117
|
|
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)
|
rs762757117
|
|
NM_001370658.1(BTD):c.825C>A (p.Asn275Lys)
|
|
|
NM_001370658.1(BTD):c.826G>A (p.Val276Ile)
|
|
|
NM_001370658.1(BTD):c.844C>T (p.His282Tyr)
|
rs398123142
|
|
NM_001370658.1(BTD):c.846C>G (p.His282Gln)
|
rs2125502649
|
|
NM_001370658.1(BTD):c.862A>C (p.Met288Leu)
|
rs757604137
|
|
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser)
|
rs397514396
|
|
NM_001370658.1(BTD):c.881A>G (p.His294Arg)
|
rs1553653888
|
|
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)
|
rs1553653894
|
|
NM_001370658.1(BTD):c.928A>C (p.Ser310Arg)
|
|
|
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn)
|
rs397514433
|
|
NM_001370658.1(BTD):c.962C>T (p.Pro321Leu)
|
|
|
NM_001370658.1(BTD):c.965T>C (p.Val322Ala)
|
|
|
NM_001370658.1(BTD):c.968G>T (p.Gly323Val)
|
|
|
NM_001370658.1(BTD):c.982G>A (p.Glu328Lys)
|
|
|
NM_001609.3(ACADSB):c.-102G>C
|
rs886046775
|
|
NM_001609.3(ACADSB):c.-109A>T
|
rs1283333224
|
|
NM_001609.3(ACADSB):c.-28G>T
|
rs895185970
|
|
NM_001609.4(ACADSB):c.*1195C>A
|
rs886046787
|
|
NM_001609.4(ACADSB):c.*1380G>A
|
rs1850689161
|
|
NM_001609.4(ACADSB):c.*1543G>T
|
rs886046789
|
|
NM_001609.4(ACADSB):c.*1552A>G
|
rs1850691633
|
|
NM_001609.4(ACADSB):c.*1682T>C
|
rs886046790
|
|
NM_001609.4(ACADSB):c.*1840T>G
|
rs886046792
|
|
NM_001609.4(ACADSB):c.*195G>A
|
rs552789169
|
|
NM_001609.4(ACADSB):c.*2224A>C
|
rs192771453
|
|
NM_001609.4(ACADSB):c.*2329A>G
|
rs543916865
|
|
NM_001609.4(ACADSB):c.*2339G>A
|
rs886046796
|
|
NM_001609.4(ACADSB):c.*2686G>C
|
rs886046797
|
|
NM_001609.4(ACADSB):c.*2922G>A
|
rs184574685
|
|
NM_001609.4(ACADSB):c.*2950A>G
|
rs886046798
|
|
NM_001609.4(ACADSB):c.*3178A>C
|
rs185809458
|
|
NM_001609.4(ACADSB):c.*3340G>C
|
rs886046799
|
|
NM_001609.4(ACADSB):c.*3483T>G
|
rs886046801
|
|
NM_001609.4(ACADSB):c.*3911A>G
|
rs1589748503
|
|
NM_001609.4(ACADSB):c.*3918G>A
|
rs886046803
|
|
NM_001609.4(ACADSB):c.*3993T>A
|
rs886046805
|
|
NM_001609.4(ACADSB):c.*4324G>T
|
rs868646540
|
|
NM_001609.4(ACADSB):c.*808G>A
|
rs41299169
|
|
NM_001609.4(ACADSB):c.-19G>C
|
rs750986257
|
|
NM_001609.4(ACADSB):c.1014C>G (p.His338Gln)
|
rs57339164
|
|
NM_001609.4(ACADSB):c.1033G>A (p.Ala345Thr)
|
|
|
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=)
|
rs886046780
|
|
NM_001609.4(ACADSB):c.1106T>A (p.Met369Lys)
|
|
|
NM_001609.4(ACADSB):c.1128+2_1128+3insTA
|
rs1554874107
|
|
NM_001609.4(ACADSB):c.1128+2_1128+4del
|
rs1564754575
|
|
NM_001609.4(ACADSB):c.1128+3A>G
|
rs760423996
|
|
NM_001609.4(ACADSB):c.1135G>A (p.Gly379Arg)
|
|
|
NM_001609.4(ACADSB):c.1170G>T (p.Gly390=)
|
rs886046781
|
|
NM_001609.4(ACADSB):c.1178G>T (p.Gly393Val)
|
|
|
NM_001609.4(ACADSB):c.1214G>A (p.Arg405Gln)
|
|
|
NM_001609.4(ACADSB):c.1219G>A (p.Ala407Thr)
|
rs777906899
|
|
NM_001609.4(ACADSB):c.1228+21del
|
rs11307362
|
|
NM_001609.4(ACADSB):c.1229G>T (p.Gly410Val)
|
|
|
NM_001609.4(ACADSB):c.1255A>T (p.Ile419Phe)
|
|
|
NM_001609.4(ACADSB):c.1265A>C (p.Asn422Thr)
|
rs1430062937
|
|
NM_001609.4(ACADSB):c.13G>A (p.Ala5Thr)
|
rs2133445397
|
|
NM_001609.4(ACADSB):c.202+3A>C
|
|
|
NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu)
|
rs1179957829
|
|
NM_001609.4(ACADSB):c.232C>A (p.Pro78Thr)
|
|
|
NM_001609.4(ACADSB):c.334G>A (p.Gly112Arg)
|
rs1564751382
|
|
NM_001609.4(ACADSB):c.370G>A (p.Val124Met)
|
|
|
NM_001609.4(ACADSB):c.370G>C (p.Val124Leu)
|
rs375217368
|
|
NM_001609.4(ACADSB):c.421A>C (p.Ile141Leu)
|
rs753508431
|
|
NM_001609.4(ACADSB):c.429C>T (p.Asn143=)
|
rs886046777
|
|
NM_001609.4(ACADSB):c.42G>A (p.Leu14=)
|
rs745863047
|
|
NM_001609.4(ACADSB):c.42G>T (p.Leu14=)
|
rs745863047
|
|
NM_001609.4(ACADSB):c.436A>T (p.Ile146Phe)
|
|
|
NM_001609.4(ACADSB):c.496C>G (p.Leu166Val)
|
rs186081101
|
|
NM_001609.4(ACADSB):c.541G>A (p.Ala181Thr)
|
|
|
NM_001609.4(ACADSB):c.542C>T (p.Ala181Val)
|
|
|
NM_001609.4(ACADSB):c.544G>T (p.Gly182Cys)
|
rs886046778
|
|
NM_001609.4(ACADSB):c.640G>A (p.Ala214Thr)
|
|
|
NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser)
|
rs145529589
|
|
NM_001609.4(ACADSB):c.682-7T>C
|
rs886046779
|
|
NM_001609.4(ACADSB):c.710T>C (p.Val237Ala)
|
|
|
NM_001609.4(ACADSB):c.736A>G (p.Ile246Val)
|
|
|
NM_001609.4(ACADSB):c.785C>T (p.Pro262Leu)
|
|
|
NM_001609.4(ACADSB):c.795C>G (p.Phe265Leu)
|
|
|
NM_001609.4(ACADSB):c.79A>G (p.Lys27Glu)
|
|
|
NM_001609.4(ACADSB):c.803T>C (p.Val268Ala)
|
rs2133483475
|
|
NM_001609.4(ACADSB):c.8G>A (p.Gly3Asp)
|
|
|
NM_001609.4(ACADSB):c.8G>C (p.Gly3Ala)
|
|
|
NM_001609.4(ACADSB):c.958A>T (p.Ile320Leu)
|
rs1554873785
|
|
NM_001698.2(AUH):c.-30C>G
|
rs1057515677
|
|
NM_001698.3(AUH):c.*175G>A
|
rs1826691653
|
|
NM_001698.3(AUH):c.*259_*262del
|
rs377176126
|
|
NM_001698.3(AUH):c.*60G>A
|
rs1564001076
|
|
NM_001698.3(AUH):c.107T>C (p.Leu36Pro)
|
|
|
NM_001698.3(AUH):c.10G>A (p.Ala4Thr)
|
|
|
NM_001698.3(AUH):c.156G>C (p.Gln52His)
|
|
|
NM_001698.3(AUH):c.197G>C (p.Gly66Ala)
|
|
|
NM_001698.3(AUH):c.197G>T (p.Gly66Val)
|
rs1323577454
|
|
NM_001698.3(AUH):c.1A>G (p.Met1Val)
|
|
|
NM_001698.3(AUH):c.204C>G (p.Ser68Arg)
|
|
|
NM_001698.3(AUH):c.20C>A (p.Ala7Glu)
|
|
|
NM_001698.3(AUH):c.211A>C (p.Met71Leu)
|
rs756127206
|
|
NM_001698.3(AUH):c.215_217dup (p.Lys72_Thr73insLys)
|
|
|
NM_001698.3(AUH):c.232C>T (p.Arg78Trp)
|
|
|
NM_001698.3(AUH):c.23C>T (p.Ala8Val)
|
|
|
NM_001698.3(AUH):c.243C>G (p.His81Gln)
|
rs372245304
|
|
NM_001698.3(AUH):c.261A>T (p.Arg87=)
|
rs2132125368
|
|
NM_001698.3(AUH):c.262+8G>A
|
|
|
NM_001698.3(AUH):c.263-5_263-2del
|
rs752149463
|
|
NM_001698.3(AUH):c.268_282del (p.Val90_Ile94del)
|
rs2132084310
|
|
NM_001698.3(AUH):c.304T>A (p.Ser102Thr)
|
rs1554721818
|
|
NM_001698.3(AUH):c.331-20T>A
|
|
|
NM_001698.3(AUH):c.341C>G (p.Ala114Gly)
|
|
|
NM_001698.3(AUH):c.350C>T (p.Ala117Val)
|
rs1832379274
|
|
NM_001698.3(AUH):c.382A>G (p.Ile128Val)
|
|
|
NM_001698.3(AUH):c.385A>G (p.Ile129Val)
|
rs1423043030
|
|
NM_001698.3(AUH):c.385A>T (p.Ile129Phe)
|
rs1423043030
|
|
NM_001698.3(AUH):c.408A>G (p.Ile136Met)
|
|
|
NM_001698.3(AUH):c.40T>C (p.Ser14Pro)
|
rs1482564472
|
|
NM_001698.3(AUH):c.419-5T>G
|
|
|
NM_001698.3(AUH):c.419G>A (p.Gly140Asp)
|
rs1829899485
|
|
NM_001698.3(AUH):c.419G>T (p.Gly140Val)
|
|
|
NM_001698.3(AUH):c.430A>G (p.Lys144Glu)
|
rs2131861010
|
|
NM_001698.3(AUH):c.434A>C (p.Glu145Ala)
|
rs2131860995
|
|
NM_001698.3(AUH):c.445A>G (p.Met149Val)
|
|
|
NM_001698.3(AUH):c.44T>A (p.Leu15Gln)
|
rs757419657
|
|
NM_001698.3(AUH):c.466C>T (p.Pro156Ser)
|
|
|
NM_001698.3(AUH):c.467C>G (p.Pro156Arg)
|
|
|
NM_001698.3(AUH):c.47A>G (p.His16Arg)
|
|
|
NM_001698.3(AUH):c.498C>G (p.Asn166Lys)
|
|
|
NM_001698.3(AUH):c.499G>A (p.Asp167Asn)
|
rs776409546
|
|
NM_001698.3(AUH):c.526A>G (p.Ile176Val)
|
|
|
NM_001698.3(AUH):c.578C>T (p.Ala193Val)
|
rs2131662764
|
|
NM_001698.3(AUH):c.623T>C (p.Val208Ala)
|
rs1050057219
|
|
NM_001698.3(AUH):c.655+3A>T
|
|
|
NM_001698.3(AUH):c.656G>C (p.Gly219Ala)
|
rs1827104191
|
|
NM_001698.3(AUH):c.658G>C (p.Gly220Arg)
|
|
|
NM_001698.3(AUH):c.677G>A (p.Arg226His)
|
|
|
NM_001698.3(AUH):c.690G>A (p.Met230Ile)
|
rs1403383788
|
|
NM_001698.3(AUH):c.713T>C (p.Phe238Ser)
|
rs1587621572
|
|
NM_001698.3(AUH):c.736A>G (p.Lys246Glu)
|
rs2131215718
|
|
NM_001698.3(AUH):c.740A>C (p.Glu247Ala)
|
|
|
NM_001698.3(AUH):c.742G>A (p.Ala248Thr)
|
rs755299132
|
|
NM_001698.3(AUH):c.780G>C (p.Gln260His)
|
|
|
NM_001698.3(AUH):c.809A>G (p.Lys270Arg)
|
|
|
NM_001698.3(AUH):c.833T>C (p.Phe278Ser)
|
rs1398261487
|
|
NM_001698.3(AUH):c.856A>G (p.Met286Val)
|
rs776767438
|
|
NM_001698.3(AUH):c.942+4dup
|
rs1554688047
|
|
NM_001698.3(AUH):c.951A>T (p.Pro317=)
|
rs530710210
|
|
NM_001698.3(AUH):c.973C>G (p.Leu325Val)
|
|
|
NM_001698.3(AUH):c.980C>G (p.Ala327Gly)
|
|
|
NM_001698.3(AUH):c.997C>A (p.Pro333Thr)
|
|
|
NM_002225.5(IVD):c.*1213A>T
|
rs886051133
|
|
NM_002225.5(IVD):c.*1245C>T
|
rs974616361
|
|
NM_002225.5(IVD):c.*1898G>A
|
rs886051134
|
|
NM_002225.5(IVD):c.*1944C>T
|
rs910131258
|
|
NM_002225.5(IVD):c.*1984G>C
|
rs969539454
|
|
NM_002225.5(IVD):c.*2125A>C
|
rs1048450160
|
|
NM_002225.5(IVD):c.*2302G>A
|
rs886051136
|
|
NM_002225.5(IVD):c.*2389C>T
|
rs1892216503
|
|
NM_002225.5(IVD):c.*2494C>G
|
rs781683880
|
|
NM_002225.5(IVD):c.*2494C>T
|
rs781683880
|
|
NM_002225.5(IVD):c.*2883T>A
|
rs181699798
|
|
NM_002225.5(IVD):c.*2960C>T
|
rs926243484
|
|
NM_002225.5(IVD):c.*3036A>C
|
rs913379191
|
|
NM_002225.5(IVD):c.*566A>G
|
rs549510775
|
|
NM_002225.5(IVD):c.*568A>T
|
rs1891996350
|
|
NM_002225.5(IVD):c.*787T>C
|
rs1892021365
|
|
NM_002225.5(IVD):c.*809G>A
|
rs886051131
|
|
NM_002225.5(IVD):c.*822G>T
|
rs373923824
|
|
NM_002225.5(IVD):c.-8T>G
|
rs566691073
|
|
NM_002225.5(IVD):c.1025A>G (p.Asn342Ser)
|
|
|
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn)
|
rs910454086
|
|
NM_002225.5(IVD):c.1066-20A>G
|
|
|
NM_002225.5(IVD):c.1071T>G (p.Cys357Trp)
|
|
|
NM_002225.5(IVD):c.107A>G (p.Asp36Gly)
|
rs2141289941
|
|
NM_002225.5(IVD):c.1088A>T (p.Tyr363Phe)
|
|
|
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn)
|
rs1566941619
|
|
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser)
|
rs1469021843
|
|
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg)
|
rs1891683650
|
|
NM_002225.5(IVD):c.1165C>A (p.Pro389Thr)
|
|
|
NM_002225.5(IVD):c.1206A>G (p.Ile402Met)
|
|
|
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys)
|
rs755693286
|
|
NM_002225.5(IVD):c.1242C>G (p.Ile414Met)
|
|
|
NM_002225.5(IVD):c.125T>A (p.Leu42Gln)
|
rs121434284
|
|
NM_002225.5(IVD):c.125T>G (p.Leu42Arg)
|
rs121434284
|
|
NM_002225.5(IVD):c.129C>A (p.Ser43Arg)
|
rs918899977
|
|
NM_002225.5(IVD):c.133G>A (p.Glu45Lys)
|
rs1890355188
|
|
NM_002225.5(IVD):c.137A>G (p.Gln46Arg)
|
rs1890355492
|
|
NM_002225.5(IVD):c.142C>G (p.Gln48Glu)
|
rs771280106
|
|
NM_002225.5(IVD):c.148C>G (p.Arg50Gly)
|
rs34695403
|
|
NM_002225.5(IVD):c.179A>C (p.His60Pro)
|
|
|
NM_002225.5(IVD):c.17G>A (p.Arg6Gln)
|
rs748160492
|
|
NM_002225.5(IVD):c.215A>G (p.Asn72Ser)
|
|
|
NM_002225.5(IVD):c.229C>G (p.Leu77Val)
|
|
|
NM_002225.5(IVD):c.233G>C (p.Arg78Pro)
|
rs771929559
|
|
NM_002225.5(IVD):c.25G>T (p.Gly9Trp)
|
|
|
NM_002225.5(IVD):c.265G>A (p.Val89Ile)
|
|
|
NM_002225.5(IVD):c.272G>A (p.Gly91Asp)
|
rs1555403365
|
|
NM_002225.5(IVD):c.298G>A (p.Gly100Ser)
|
|
|
NM_002225.5(IVD):c.2T>C (p.Met1Thr)
|
|
|
NM_002225.5(IVD):c.320A>G (p.Glu107Gly)
|
rs2141323321
|
|
NM_002225.5(IVD):c.34G>A (p.Val12Met)
|
|
|
NM_002225.5(IVD):c.376T>C (p.Tyr126His)
|
|
|
NM_002225.5(IVD):c.379G>A (p.Gly127Ser)
|
|
|
NM_002225.5(IVD):c.415C>T (p.Arg139Cys)
|
rs376324882
|
|
NM_002225.5(IVD):c.417C>T (p.Arg139=)
|
|
|
NM_002225.5(IVD):c.419A>G (p.Asn140Ser)
|
|
|
NM_002225.5(IVD):c.438A>G (p.Lys146=)
|
rs1007239169
|
|
NM_002225.5(IVD):c.452C>G (p.Pro151Arg)
|
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.457-3C>T
|
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
|
rs1221254988
|
|
NM_002225.5(IVD):c.48G>C (p.Arg16Ser)
|
|
|
NM_002225.5(IVD):c.492G>A (p.Met164Ile)
|
|
|
NM_002225.5(IVD):c.516TGT[1] (p.Val174del)
|
rs1566936030
|
|
NM_002225.5(IVD):c.521T>G (p.Val174Gly)
|
rs1891058364
|
|
NM_002225.5(IVD):c.550+6G>A
|
rs1891063818
|
|
NM_002225.5(IVD):c.59C>T (p.Pro20Leu)
|
|
|
NM_002225.5(IVD):c.607G>C (p.Asp203His)
|
rs2141331313
|
|
NM_002225.5(IVD):c.60G>T (p.Pro20=)
|
rs1482549847
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
NM_002225.5(IVD):c.623A>G (p.Tyr208Cys)
|
|
|
NM_002225.5(IVD):c.634G>A (p.Asp212Asn)
|
|
|
NM_002225.5(IVD):c.634G>C (p.Asp212His)
|
|
|
NM_002225.5(IVD):c.641C>T (p.Ala214Val)
|
|
|
NM_002225.5(IVD):c.646G>A (p.Val216Met)
|
|
|
NM_002225.5(IVD):c.659G>A (p.Arg220Gln)
|
|
|
NM_002225.5(IVD):c.671C>A (p.Ala224Asp)
|
|
|
NM_002225.5(IVD):c.678T>G (p.Ile226Met)
|
rs1891104586
|
|
NM_002225.5(IVD):c.688G>T (p.Gly230Cys)
|
|
|
NM_002225.5(IVD):c.712AAG[1] (p.Lys239del)
|
rs1555404430
|
|
NM_002225.5(IVD):c.71T>C (p.Phe24Ser)
|
|
|
NM_002225.5(IVD):c.721G>A (p.Asp241Asn)
|
rs2141340100
|
|
NM_002225.5(IVD):c.772T>G (p.Cys258Gly)
|
rs2141340538
|
|
NM_002225.5(IVD):c.813G>A (p.Lys271=)
|
rs767825575
|
|
NM_002225.5(IVD):c.817G>A (p.Val273Ile)
|
|
|
NM_002225.5(IVD):c.821A>G (p.Tyr274Cys)
|
|
|
NM_002225.5(IVD):c.823G>A (p.Val275Met)
|
rs757832700
|
|
NM_002225.5(IVD):c.823G>C (p.Val275Leu)
|
rs757832700
|
|
NM_002225.5(IVD):c.841G>A (p.Asp281Asn)
|
|
|
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)
|
rs1314850102
|
|
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
|
|
|
NM_002225.5(IVD):c.853C>G (p.Leu285Val)
|
|
|
NM_002225.5(IVD):c.856G>A (p.Val286Met)
|
|
|
NM_002225.5(IVD):c.865G>T (p.Gly289Trp)
|
rs568885234
|
|
NM_002225.5(IVD):c.870G>T (p.Gly290=)
|
rs1285915480
|
|
NM_002225.5(IVD):c.875T>C (p.Leu292Pro)
|
rs1555404843
|
|
NM_002225.5(IVD):c.880C>T (p.Leu294Phe)
|
|
|
NM_002225.5(IVD):c.881T>C (p.Leu294Pro)
|
rs1555404933
|
|
NM_002225.5(IVD):c.887A>T (p.Gln296Leu)
|
rs1595786862
|
|
NM_002225.5(IVD):c.919C>T (p.His307Tyr)
|
rs2141355545
|
|
NM_002225.5(IVD):c.995G>A (p.Arg332His)
|
|
|
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)
|
rs745464766
|
|
NM_004208.4(AIFM1):c.1084A>C (p.Lys362Gln)
|
|
|
NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn)
|
|
|
NM_005050.4(ABCD4):c.1009G>A (p.Val337Met)
|
|
|
NM_005050.4(ABCD4):c.1034G>T (p.Gly345Val)
|
|
|
NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro)
|
|
|
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met)
|
rs35073715
|
|
NM_005050.4(ABCD4):c.1060A>G (p.Met354Val)
|
|
|
NM_005050.4(ABCD4):c.1124C>T (p.Pro375Leu)
|
|
|
NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg)
|
|
|
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val)
|
rs2081160348
|
|
NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser)
|
|
|
NM_005050.4(ABCD4):c.1283C>T (p.Thr428Ile)
|
rs945270666
|
|
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser)
|
rs2081143591
|
|
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)
|
rs200761248
|
|
NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln)
|
|
|
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
|
|
|
NM_005050.4(ABCD4):c.1328-10G>A
|
|
|
NM_005050.4(ABCD4):c.1333G>A (p.Val445Met)
|
|
|
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser)
|
rs1594861158
|
|
NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser)
|
|
|
NM_005050.4(ABCD4):c.1420-3del
|
|
|
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His)
|
rs1045211254
|
|
NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn)
|
|
|
NM_005050.4(ABCD4):c.1507-3_1507-2dup
|
rs746298456
|
|
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
|
|
|
NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)
|
|
|
NM_005050.4(ABCD4):c.1559+7_1559+11del
|
rs1381694360
|
|
NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys)
|
rs2140107509
|
|
NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys)
|
|
|
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr)
|
rs754370477
|
|
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
|
|
|
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly)
|
rs2139698542
|
|
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg)
|
rs138753274
|
|
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)
|
rs1204078851
|
|
NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)
|
|
|
NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)
|
|
|
NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)
|
|
|
NM_005050.4(ABCD4):c.1774C>T (p.Leu592Phe)
|
rs2139689489
|
|
NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)
|
|
|
NM_005050.4(ABCD4):c.1A>G (p.Met1Val)
|
rs2140174798
|
|
NM_005050.4(ABCD4):c.225C>G (p.Asp75Glu)
|
rs2140093719
|
|
NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser)
|
|
|
NM_005050.4(ABCD4):c.23C>T (p.Pro8Leu)
|
|
|
NM_005050.4(ABCD4):c.286-3C>T
|
|
|
NM_005050.4(ABCD4):c.286-7T>A
|
|
|
NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)
|
|
|
NM_005050.4(ABCD4):c.384G>A (p.Ala128=)
|
|
|
NM_005050.4(ABCD4):c.398A>G (p.Asn133Ser)
|
|
|
NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser)
|
|
|
NM_005050.4(ABCD4):c.400G>A (p.Val134Met)
|
|
|
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala)
|
rs972140495
|
|
NM_005050.4(ABCD4):c.419A>C (p.Asp140Ala)
|
|
|
NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu)
|
|
|
NM_005050.4(ABCD4):c.434G>T (p.Arg145Leu)
|
rs150967109
|
|
NM_005050.4(ABCD4):c.448G>A (p.Val150Met)
|
rs574925291
|
|
NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu)
|
|
|
NM_005050.4(ABCD4):c.469C>G (p.Leu157Val)
|
|
|
NM_005050.4(ABCD4):c.500C>A (p.Ser167Tyr)
|
rs778245157
|
|
NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu)
|
|
|
NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)
|
|
|
NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr)
|
|
|
NM_005050.4(ABCD4):c.637G>T (p.Val213Leu)
|
|
|
NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)
|
|
|
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)
|
|
|
NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp)
|
|
|
NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu)
|
|
|
NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys)
|
|
|
NM_005050.4(ABCD4):c.739A>C (p.Met247Leu)
|
|
|
NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly)
|
|
|
NM_005050.4(ABCD4):c.761A>G (p.Gln254Arg)
|
|
|
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp)
|
rs1566959741
|
|
NM_005050.4(ABCD4):c.814+6C>T
|
rs1012967402
|
|
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn)
|
rs2081908223
|
|
NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)
|
|
|
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly)
|
rs2084043062
|
|
NM_005050.4(ABCD4):c.979C>G (p.Leu327Val)
|
|
|
NM_005050.4(ABCD4):c.995C>T (p.Thr332Met)
|
|
|
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)
|
rs2065417308
|
|
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His)
|
rs2148589382
|
|
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
|
|
|
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met)
|
rs782132752
|
|
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala)
|
|
|
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met)
|
rs2065413556
|
|
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val)
|
rs868948937
|
|
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
|
rs782364666
|
|
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)
|
rs1557115869
|
|
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
|
|
|
NM_005334.3(HCFC1):c.1790C>T (p.Ser597Phe)
|
|
|
NM_005334.3(HCFC1):c.1888C>T (p.Arg630Cys)
|
|
|
NM_005334.3(HCFC1):c.2028+6T>C
|
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val)
|
rs2065388763
|
|
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser)
|
|
|
NM_005334.3(HCFC1):c.2353+6G>A
|
|
|
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn)
|
|
|
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met)
|
|
|
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu)
|
|
|
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala)
|
rs1131691855
|
|
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)
|
rs949004802
|
|
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
|
|
|
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
|
|
|
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp)
|
rs2065362050
|
|
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
|
|
|
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu)
|
rs2065360852
|
|
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr)
|
rs2065360777
|
|
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)
|
|
|
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)
|
|
|
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln)
|
|
|
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
|
|
|
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
|
|
|
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
|
|
|
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)
|
rs2065355018
|
|
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
|
|
|
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)
|
|
|
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu)
|
|
|
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)
|
rs2065352881
|
|
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1])
|
|
|
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala)
|
|
|
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser)
|
|
|
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg)
|
rs2148571129
|
|
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)
|
|
|
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
|
|
|
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
|
|
|
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
|
|
|
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
|
|
|
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
|
|
|
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg)
|
rs2148569217
|
|
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr)
|
rs2065343736
|
|
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
|
|
|
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala)
|
rs2065338418
|
|
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
|
|
|
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)
|
|
|
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu)
|
rs1277991321
|
|
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His)
|
|
|
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr)
|
rs782652831
|
|
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
|
|
|
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
|
|
|
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu)
|
rs1603294733
|
|
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met)
|
rs2148563099
|
|
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)
|
|
|
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)
|
rs1275942023
|
|
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met)
|
rs2065317868
|
|
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup)
|
rs2148561074
|
|
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser)
|
rs1376359622
|
|
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)
|
|
|
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr)
|
rs782384589
|
|
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
|
|
|
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
|
|
|
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala)
|
rs2065309711
|
|
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly)
|
rs2065303644
|
|
NM_005334.3(HCFC1):c.5782G>A (p.Ala1928Thr)
|
|
|
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
|
|
|
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile)
|
rs2148553327
|
|
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr)
|
|
|
NM_005334.3(HCFC1):c.712+6C>T
|
rs1165322624
|
|
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg)
|
rs2065524568
|
|
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)
|
|
|
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
|
|
|
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
|
|
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
|
|
NM_013247.5(HTRA2):c.146G>C (p.Arg49Pro)
|
rs1675478353
|
|
NM_013247.5(HTRA2):c.739C>T (p.Arg247Cys)
|
rs763567914
|
|
NM_013247.5(HTRA2):c.755G>A (p.Arg252Gln)
|
|
|
NM_014362.4(HIBCH):c.1004C>T (p.Ala335Val)
|
|
|
NM_014362.4(HIBCH):c.1012-10T>G
|
rs1246020574
|
|
NM_014362.4(HIBCH):c.1024T>C (p.Phe342Leu)
|
|
|
NM_014362.4(HIBCH):c.1028A>T (p.His343Leu)
|
|
|
NM_014362.4(HIBCH):c.1034G>T (p.Gly345Val)
|
rs1260531370
|
|
NM_014362.4(HIBCH):c.1035C>T (p.Gly345=)
|
|
|
NM_014362.4(HIBCH):c.1045G>C (p.Val349Leu)
|
|
|
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met)
|
rs1575690635
|
|
NM_014362.4(HIBCH):c.1084G>A (p.Ala362Thr)
|
|
|
NM_014362.4(HIBCH):c.1128del (p.Phe376fs)
|
rs863225062
|
|
NM_014362.4(HIBCH):c.1139G>A (p.Gly380Glu)
|
|
|
NM_014362.4(HIBCH):c.11G>T (p.Arg4Leu)
|
rs749741622
|
|
NM_014362.4(HIBCH):c.125A>G (p.Lys42Arg)
|
|
|
NM_014362.4(HIBCH):c.175G>T (p.Ala59Ser)
|
|
|
NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile)
|
rs1575757363
|
|
NM_014362.4(HIBCH):c.219G>A (p.Lys73=)
|
|
|
NM_014362.4(HIBCH):c.222G>A (p.Lys74=)
|
|
|
NM_014362.4(HIBCH):c.253A>T (p.Ile85Phe)
|
|
|
NM_014362.4(HIBCH):c.284G>C (p.Cys95Ser)
|
rs2105990079
|
|
NM_014362.4(HIBCH):c.288C>T (p.Ala96=)
|
|
|
NM_014362.4(HIBCH):c.311C>T (p.Ser104Leu)
|
|
|
NM_014362.4(HIBCH):c.324G>T (p.Lys108Asn)
|
|
|
NM_014362.4(HIBCH):c.35G>A (p.Arg12Lys)
|
|
|
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)
|
rs1114167288
|
|
NM_014362.4(HIBCH):c.438+4A>G
|
|
|
NM_014362.4(HIBCH):c.439-2A>G
|
rs1180861300
|
|
NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg)
|
rs1341440380
|
|
NM_014362.4(HIBCH):c.529G>C (p.Asp177His)
|
rs1315908015
|
|
NM_014362.4(HIBCH):c.56C>G (p.Thr19Ser)
|
|
|
NM_014362.4(HIBCH):c.594A>T (p.Thr198=)
|
|
|
NM_014362.4(HIBCH):c.616G>A (p.Asp206Asn)
|
|
|
NM_014362.4(HIBCH):c.68T>A (p.Leu23Gln)
|
|
|
NM_014362.4(HIBCH):c.692C>T (p.Ala231Val)
|
|
|
NM_014362.4(HIBCH):c.712G>A (p.Glu238Lys)
|
|
|
NM_014362.4(HIBCH):c.716A>G (p.Asn239Ser)
|
|
|
NM_014362.4(HIBCH):c.751-4A>G
|
|
|
NM_014362.4(HIBCH):c.751-5_751-2del
|
|
|
NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly)
|
rs1248460683
|
|
NM_014362.4(HIBCH):c.832G>A (p.Glu278Lys)
|
|
|
NM_014362.4(HIBCH):c.863G>C (p.Gly288Ala)
|
|
|
NM_014362.4(HIBCH):c.925A>G (p.Ile309Val)
|
|
|
NM_014362.4(HIBCH):c.932T>G (p.Leu311Arg)
|
|
|
NM_014362.4(HIBCH):c.945G>A (p.Met315Ile)
|
|
|
NM_014362.4(HIBCH):c.958A>G (p.Lys320Glu)
|
|
|
NM_014362.4(HIBCH):c.974T>G (p.Val325Gly)
|
rs751484433
|
|
NM_014384.3(ACAD8):c.*306C>T
|
rs886048027
|
|
NM_014384.3(ACAD8):c.*441C>G
|
rs886048028
|
|
NM_014384.3(ACAD8):c.*634T>C
|
rs1940131247
|
|
NM_014384.3(ACAD8):c.*69G>T
|
rs371730378
|
|
NM_014384.3(ACAD8):c.*874C>G
|
rs756666725
|
|
NM_014384.3(ACAD8):c.104T>G (p.Ile35Ser)
|
|
|
NM_014384.3(ACAD8):c.1057A>G (p.Met353Val)
|
rs2136083488
|
|
NM_014384.3(ACAD8):c.1084T>C (p.Cys362Arg)
|
rs995149464
|
|
NM_014384.3(ACAD8):c.109+19G>T
|
|
|
NM_014384.3(ACAD8):c.1092+3_1092+6del
|
rs780925587
|
|
NM_014384.3(ACAD8):c.1097G>A (p.Cys366Tyr)
|
|
|
NM_014384.3(ACAD8):c.109C>T (p.Pro37Ser)
|
|
|
NM_014384.3(ACAD8):c.110-6C>T
|
rs559628768
|
|
NM_014384.3(ACAD8):c.1193A>G (p.Glu398Gly)
|
rs1218106884
|
|
NM_014384.3(ACAD8):c.1195+1G>A
|
rs1555067461
|
|
NM_014384.3(ACAD8):c.1196-4_1196-2del
|
rs1940101302
|
|
NM_014384.3(ACAD8):c.121C>A (p.Leu41Ile)
|
rs2136075017
|
|
NM_014384.3(ACAD8):c.130G>A (p.Glu44Lys)
|
|
|
NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly)
|
rs377629003
|
|
NM_014384.3(ACAD8):c.259G>A (p.Gly87Arg)
|
|
|
NM_014384.3(ACAD8):c.275A>G (p.Gln92Arg)
|
rs886048022
|
|
NM_014384.3(ACAD8):c.293C>T (p.Ser98Phe)
|
rs948304437
|
|
NM_014384.3(ACAD8):c.316T>C (p.Ser106Pro)
|
rs2136076309
|
|
NM_014384.3(ACAD8):c.32C>T (p.Ala11Val)
|
rs773403936
|
|
NM_014384.3(ACAD8):c.340A>G (p.Thr114Ala)
|
rs935057058
|
|
NM_014384.3(ACAD8):c.344G>A (p.Gly115Asp)
|
|
|
NM_014384.3(ACAD8):c.368T>A (p.Ile123Lys)
|
rs1353919966
|
|
NM_014384.3(ACAD8):c.372C>G (p.Ser124Arg)
|
|
|
NM_014384.3(ACAD8):c.375C>G (p.Ile125Met)
|
|
|
NM_014384.3(ACAD8):c.381-4T>A
|
rs886048023
|
|
NM_014384.3(ACAD8):c.422A>G (p.Gln141Arg)
|
rs2136078898
|
|
NM_014384.3(ACAD8):c.431A>G (p.Lys144Arg)
|
rs1301535598
|
|
NM_014384.3(ACAD8):c.432A>G (p.Lys144=)
|
rs886048024
|
|
NM_014384.3(ACAD8):c.453C>T (p.Thr151=)
|
rs1939688110
|
|
NM_014384.3(ACAD8):c.459G>A (p.Glu153=)
|
|
|
NM_014384.3(ACAD8):c.494G>T (p.Ser165Ile)
|
|
|
NM_014384.3(ACAD8):c.584C>A (p.Ala195Asp)
|
rs774591276
|
|
NM_014384.3(ACAD8):c.64G>T (p.Val22Phe)
|
rs1274417206
|
|
NM_014384.3(ACAD8):c.687T>G (p.Phe229Leu)
|
|
|
NM_014384.3(ACAD8):c.730C>G (p.Arg244Gly)
|
|
|
NM_014384.3(ACAD8):c.763G>A (p.Val255Met)
|
rs899220061
|
|
NM_014384.3(ACAD8):c.782G>A (p.Ser261Asn)
|
rs2136082301
|
|
NM_014384.3(ACAD8):c.794G>C (p.Gly265Ala)
|
rs1246888184
|
|
NM_014384.3(ACAD8):c.79G>A (p.Gly27Ser)
|
|
|
NM_014384.3(ACAD8):c.822C>A (p.Asn274Lys)
|
rs371156848
|
|
NM_014384.3(ACAD8):c.833T>C (p.Ile278Thr)
|
rs1317315596
|
|
NM_014384.3(ACAD8):c.841+15G>A
|
rs770612690
|
|
NM_014384.3(ACAD8):c.849C>G (p.Cys283Trp)
|
rs1939865617
|
|
NM_014384.3(ACAD8):c.859G>C (p.Ala287Pro)
|
|
|
NM_014384.3(ACAD8):c.867C>G (p.His289Gln)
|
rs121908421
|
|
NM_014384.3(ACAD8):c.868G>A (p.Ala290Thr)
|
|
|
NM_014384.3(ACAD8):c.868G>C (p.Ala290Pro)
|
|
|
NM_014384.3(ACAD8):c.905G>C (p.Arg302Pro)
|
rs121908422
|
|
NM_014384.3(ACAD8):c.940-13C>G
|
|
|
NM_014384.3(ACAD8):c.965T>G (p.Met322Arg)
|
rs577976129
|
|
NM_014384.3(ACAD8):c.986C>T (p.Ala329Val)
|
|
|
NM_015506.3(MMACHC):c.*5C>G
|
rs557994288
|
|
NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg)
|
rs2149323209
|
|
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
|
|
|
NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)
|
|
|
NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
|
|
|
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)
|
rs775502093
|
|
NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg)
|
rs750127773
|
|
NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
|
|
|
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile)
|
rs772225967
|
|
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
|
|
|
NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
|
|
|
NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
|
|
|
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
|
|
|
NM_015506.3(MMACHC):c.276+5G>A
|
|
|
NM_015506.3(MMACHC):c.277-8_277-3dup
|
rs756072947
|
|
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
|
|
|
NM_015506.3(MMACHC):c.311A>T (p.Asp104Val)
|
rs1553162829
|
|
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del)
|
rs1557607881
|
|
NM_015506.3(MMACHC):c.319G>A (p.Val107Met)
|
rs758730415
|
|
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)
|
rs2149323547
|
|
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
|
|
|
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)
|
rs1643666069
|
|
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg)
|
rs1006520706
|
|
NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)
|
|
|
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del)
|
rs1553162848
|
|
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
|
|
|
NM_015506.3(MMACHC):c.392_394del (p.Gln131del)
|
rs779234540
|
|
NM_015506.3(MMACHC):c.393A>C (p.Gln131His)
|
rs2149323606
|
|
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)
|
rs369335868
|
|
NM_015506.3(MMACHC):c.395_397del (p.Arg132del)
|
rs1455190457
|
|
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)
|
rs747550590
|
|
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)
|
rs796051999
|
|
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
|
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)
|
rs1570832855
|
|
NM_015506.3(MMACHC):c.490G>A (p.Val164Met)
|
rs1417321919
|
|
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del)
|
rs1249948465
|
|
NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg)
|
|
|
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
|
|
|
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)
|
rs1643678565
|
|
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
|
|
|
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)
|
rs955468279
|
|
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)
|
rs372010149
|
|
NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)
|
|
|
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
|
|
|
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del)
|
rs1553162937
|
|
NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn)
|
rs748747319
|
|
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
|
rs375442063
|
|
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
|
|
|
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
|
|
|
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
|
|
|
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)
|
rs371753672
|
|
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
|
|
|
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
|
|
|
NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser)
|
rs192924272
|
|
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)
|
rs755843695
|
|
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)
|
rs483352740
|
|
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly)
|
rs199641732
|
|
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
|
|
|
NM_015506.3(MMACHC):c.701del (p.Leu234fs)
|
rs767339897
|
|
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
|
|
|
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
|
|
|
NM_015506.3(MMACHC):c.728del (p.Pro243fs)
|
rs1409915649
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
|
|
|
NM_015506.3(MMACHC):c.745dup (p.Asp249fs)
|
rs1553162993
|
|
NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
|
|
|
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
NM_015506.3(MMACHC):c.771dup (p.Lys258fs)
|
rs763886783
|
|
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
|
rs753855245
|
|
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs)
|
rs1643689610
|
|
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly)
|
rs34258482
|
|
NM_015506.3(MMACHC):c.799dup (p.Arg267fs)
|
rs1553163005
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
|
|
|
NM_015506.3(MMACHC):c.839del (p.Pro280fs)
|
rs1553163017
|
|
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr)
|
rs1553163019
|
|
NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
|
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?)
|
rs1553163021
|
|
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?)
|
rs1553163024
|
|
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?)
|
rs1553163027
|
|
NM_015702.3(MMADHC):c.-136G>C
|
rs1682898571
|
|
NM_015702.3(MMADHC):c.-52-3C>G
|
rs886054922
|
|
NM_015702.3(MMADHC):c.-62G>A
|
rs886054924
|
|
NM_015702.3(MMADHC):c.10-3T>C
|
rs886054921
|
|
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val)
|
|
|
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)
|
rs749521854
|
|
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly)
|
|
|
NM_015702.3(MMADHC):c.166G>A (p.Val56Met)
|
rs1682767724
|
|
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala)
|
|
|
NM_015702.3(MMADHC):c.184A>G (p.Met62Val)
|
|
|
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg)
|
rs1334273037
|
|
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)
|
|
|
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu)
|
|
|
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
|
rs533388008
|
|
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser)
|
|
|
NM_015702.3(MMADHC):c.373-5C>A
|
|
|
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val)
|
rs768142805
|
|
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg)
|
rs1226772166
|
|
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)
|
|
|
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile)
|
|
|
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
|
|
|
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu)
|
rs1553453961
|
|
NM_015702.3(MMADHC):c.609+6T>C
|
rs1682704400
|
|
NM_015702.3(MMADHC):c.699T>C (p.Phe233=)
|
rs1682618008
|
|
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
|
|
|
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)
|
rs530553915
|
|
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)
|
rs1408840913
|
|
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu)
|
rs549522925
|
|
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
|
rs549522925
|
|
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)
|
rs886054920
|
|
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys)
|
rs773493767
|
|
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs)
|
rs2105041468
|
|
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)
|
|
|
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)
|
|
|
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg)
|
rs2105041421
|
|
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)
|
|
|
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)
|
|
|
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)
|
rs1401528755
|
|
NM_018368.4(LMBRD1):c.*220G>T
|
rs1765534415
|
|
NM_018368.4(LMBRD1):c.*77G>T
|
rs886061690
|
|
NM_018368.4(LMBRD1):c.-57T>C
|
rs886061693
|
|
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly)
|
rs773844453
|
|
NM_018368.4(LMBRD1):c.1025T>C (p.Ile342Thr)
|
rs2149844901
|
|
NM_018368.4(LMBRD1):c.1067T>C (p.Leu356Ser)
|
rs1766127830
|
|
NM_018368.4(LMBRD1):c.1109T>C (p.Ile370Thr)
|
|
|
NM_018368.4(LMBRD1):c.1136T>A (p.Phe379Tyr)
|
rs2149844500
|
|
NM_018368.4(LMBRD1):c.1166G>A (p.Gly389Asp)
|
|
|
NM_018368.4(LMBRD1):c.11C>T (p.Ser4Phe)
|
|
|
NM_018368.4(LMBRD1):c.125G>A (p.Ser42Asn)
|
|
|
NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)
|
|
|
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser)
|
rs2149843427
|
|
NM_018368.4(LMBRD1):c.1370A>G (p.Asn457Ser)
|
|
|
NM_018368.4(LMBRD1):c.1435C>T (p.Arg479Trp)
|
|
|
NM_018368.4(LMBRD1):c.1436G>A (p.Arg479Gln)
|
|
|
NM_018368.4(LMBRD1):c.151A>G (p.Ile51Val)
|
|
|
NM_018368.4(LMBRD1):c.151A>T (p.Ile51Phe)
|
rs758878362
|
|
NM_018368.4(LMBRD1):c.1538G>A (p.Cys513Tyr)
|
|
|
NM_018368.4(LMBRD1):c.156T>G (p.Phe52Leu)
|
|
|
NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly)
|
rs761378514
|
|
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val)
|
rs1402538766
|
|
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
|
rs534280770
|
|
NM_018368.4(LMBRD1):c.164C>T (p.Ala55Val)
|
rs750928457
|
|
NM_018368.4(LMBRD1):c.23C>T (p.Ser8Leu)
|
|
|
NM_018368.4(LMBRD1):c.25G>A (p.Ala9Thr)
|
|
|
NM_018368.4(LMBRD1):c.272G>C (p.Arg91Thr)
|
|
|
NM_018368.4(LMBRD1):c.284A>T (p.Asp95Val)
|
rs756284919
|
|
NM_018368.4(LMBRD1):c.323T>C (p.Ile108Thr)
|
|
|
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys)
|
rs1765174962
|
|
NM_018368.4(LMBRD1):c.37A>G (p.Ile13Val)
|
|
|
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg)
|
rs1582124917
|
|
NM_018368.4(LMBRD1):c.403A>C (p.Thr135Pro)
|
|
|
NM_018368.4(LMBRD1):c.40G>A (p.Gly14Ser)
|
|
|
NM_018368.4(LMBRD1):c.500A>G (p.Asn167Ser)
|
|
|
NM_018368.4(LMBRD1):c.55G>T (p.Gly19Cys)
|
|
|
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
|
rs1387756161
|
|
NM_018368.4(LMBRD1):c.5C>G (p.Ala2Gly)
|
|
|
NM_018368.4(LMBRD1):c.614T>C (p.Met205Thr)
|
|
|
NM_018368.4(LMBRD1):c.641A>G (p.Tyr214Cys)
|
|
|
NM_018368.4(LMBRD1):c.662T>C (p.Leu221Ser)
|
rs2149856480
|
|
NM_018368.4(LMBRD1):c.676G>T (p.Gly226Cys)
|
rs2149856461
|
|
NM_018368.4(LMBRD1):c.686G>A (p.Ser229Asn)
|
|
|
NM_018368.4(LMBRD1):c.687C>G (p.Ser229Arg)
|
|
|
NM_018368.4(LMBRD1):c.695A>G (p.Tyr232Cys)
|
|
|
NM_018368.4(LMBRD1):c.700C>T (p.Arg234Cys)
|
|
|
NM_018368.4(LMBRD1):c.727G>C (p.Glu243Gln)
|
rs1766553572
|
|
NM_018368.4(LMBRD1):c.773G>T (p.Gly258Val)
|
|
|
NM_018368.4(LMBRD1):c.776G>A (p.Arg259Gln)
|
|
|
NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe)
|
|
|
NM_018368.4(LMBRD1):c.800G>A (p.Arg267His)
|
|
|
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg)
|
rs1582168492
|
|
NM_018368.4(LMBRD1):c.940T>G (p.Leu314Val)
|
rs1409901040
|
|
NM_018368.4(LMBRD1):c.947C>T (p.Ala316Val)
|
rs2149845543
|
|
NM_018368.4(LMBRD1):c.953T>C (p.Leu318Pro)
|
|
|
NM_018368.4(LMBRD1):c.980+3A>G
|
|
|
NM_018368.4(LMBRD1):c.981-14G>T
|
rs1324981458
|
|
NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr)
|
rs766881860
|
|
NM_020166.4(MCCC1):c.-101C>T
|
rs886058210
|
|
NM_020166.4(MCCC1):c.-102C>A
|
rs543130921
|
|
NM_020166.4(MCCC1):c.-132C>T
|
rs529095789
|
|
NM_020166.5(MCCC1):c.1016G>T (p.Arg339Met)
|
|
|
NM_020166.5(MCCC1):c.1040C>A (p.Thr347Asn)
|
rs1714478055
|
|
NM_020166.5(MCCC1):c.1067T>C (p.Val356Ala)
|
rs1714474829
|
|
NM_020166.5(MCCC1):c.1123A>G (p.Ile375Val)
|
rs2108479414
|
|
NM_020166.5(MCCC1):c.1134_1136dup (p.Gly379dup)
|
rs2108479359
|
|
NM_020166.5(MCCC1):c.1139A>T (p.His380Leu)
|
|
|
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln)
|
rs1714100545
|
|
NM_020166.5(MCCC1):c.1149A>C (p.Glu383Asp)
|
|
|
NM_020166.5(MCCC1):c.117G>A (p.Met39Ile)
|
|
|
NM_020166.5(MCCC1):c.1208T>G (p.Val403Gly)
|
|
|
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro)
|
rs1714092180
|
|
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu)
|
rs1577276072
|
|
NM_020166.5(MCCC1):c.1225C>G (p.Arg409Gly)
|
rs1484347924
|
|
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn)
|
rs1713861760
|
|
NM_020166.5(MCCC1):c.1273G>A (p.Glu425Lys)
|
|
|
NM_020166.5(MCCC1):c.1288T>G (p.Tyr430Asp)
|
rs2108474014
|
|
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val)
|
rs1232970567
|
|
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe)
|
rs1553868919
|
|
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)
|
rs398124352
|
|
NM_020166.5(MCCC1):c.1324G>T (p.Ala442Ser)
|
|
|
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr)
|
rs546480708
|
|
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser)
|
rs546480708
|
|
NM_020166.5(MCCC1):c.137-10T>G
|
rs1560281403
|
|
NM_020166.5(MCCC1):c.1377+6T>G
|
rs1369902442
|
|
NM_020166.5(MCCC1):c.1385G>T (p.Gly462Val)
|
rs2108470950
|
|
NM_020166.5(MCCC1):c.139A>G (p.Arg47Gly)
|
|
|
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val)
|
rs565662458
|
|
NM_020166.5(MCCC1):c.1418T>C (p.Leu473Pro)
|
|
|
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn)
|
rs1560219885
|
|
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu)
|
rs1560219876
|
|
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg)
|
rs1290771044
|
|
NM_020166.5(MCCC1):c.1450G>C (p.Val484Leu)
|
|
|
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg)
|
rs1713701795
|
|
NM_020166.5(MCCC1):c.1481A>T (p.Lys494Ile)
|
|
|
NM_020166.5(MCCC1):c.1495A>G (p.Ser499Gly)
|
|
|
NM_020166.5(MCCC1):c.1508C>A (p.Ala503Glu)
|
|
|
NM_020166.5(MCCC1):c.1517A>C (p.Glu506Ala)
|
|
|
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)
|
rs563586657
|
|
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn)
|
rs200031275
|
|
NM_020166.5(MCCC1):c.1580C>T (p.Thr527Ile)
|
|
|
NM_020166.5(MCCC1):c.1582C>T (p.Leu528Phe)
|
|
|
NM_020166.5(MCCC1):c.1594+3A>G
|
|
|
NM_020166.5(MCCC1):c.1619G>A (p.Ser540Asn)
|
|
|
NM_020166.5(MCCC1):c.1630A>G (p.Arg544Gly)
|
|
|
NM_020166.5(MCCC1):c.1643C>T (p.Ser548Leu)
|
|
|
NM_020166.5(MCCC1):c.1645T>C (p.Tyr549His)
|
|
|
NM_020166.5(MCCC1):c.1657A>G (p.Met553Val)
|
|
|
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys)
|
rs774055789
|
|
NM_020166.5(MCCC1):c.1681+2dup
|
|
|
NM_020166.5(MCCC1):c.170G>A (p.Arg57Lys)
|
|
|
NM_020166.5(MCCC1):c.1721A>G (p.Tyr574Cys)
|
|
|
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn)
|
rs886058206
|
|
NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu)
|
|
|
NM_020166.5(MCCC1):c.17C>T (p.Ala6Val)
|
|
|
NM_020166.5(MCCC1):c.1802C>T (p.Ser601Phe)
|
rs1352360605
|
|
NM_020166.5(MCCC1):c.1843G>C (p.Glu615Gln)
|
rs2108441391
|
|
NM_020166.5(MCCC1):c.188G>A (p.Arg63Lys)
|
rs2108565998
|
|
NM_020166.5(MCCC1):c.1909T>G (p.Leu637Val)
|
|
|
NM_020166.5(MCCC1):c.1970T>C (p.Ile657Thr)
|
|
|
NM_020166.5(MCCC1):c.1977+4dup
|
rs1488259395
|
|
NM_020166.5(MCCC1):c.197G>A (p.Arg66His)
|
rs569042803
|
|
NM_020166.5(MCCC1):c.1984G>T (p.Val662Phe)
|
|
|
NM_020166.5(MCCC1):c.200C>T (p.Thr67Ile)
|
rs2108565928
|
|
NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr)
|
rs1354787415
|
|
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg)
|
rs1553849443
|
|
NM_020166.5(MCCC1):c.2045T>G (p.Met682Arg)
|
|
|
NM_020166.5(MCCC1):c.2046G>C (p.Met682Ile)
|
|
|
NM_020166.5(MCCC1):c.2050-2A>G
|
rs2108428908
|
|
NM_020166.5(MCCC1):c.2050-6_2050-5del
|
rs780558586
|
|
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg)
|
rs1553848994
|
|
NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val)
|
rs751755306
|
|
NM_020166.5(MCCC1):c.2115del (p.Asn706fs)
|
rs2108428693
|
|
NM_020166.5(MCCC1):c.2123dup (p.His708fs)
|
rs1404350628
|
|
NM_020166.5(MCCC1):c.215G>C (p.Gly72Ala)
|
rs761521333
|
|
NM_020166.5(MCCC1):c.223A>G (p.Thr75Ala)
|
|
|
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)
|
rs144230304
|
|
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly)
|
rs1577363370
|
|
NM_020166.5(MCCC1):c.247G>C (p.Asp83His)
|
rs1485157465
|
|
NM_020166.5(MCCC1):c.256T>C (p.Ser86Pro)
|
rs2108565751
|
|
NM_020166.5(MCCC1):c.260T>G (p.Met87Arg)
|
|
|
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr)
|
rs1333663197
|
|
NM_020166.5(MCCC1):c.273+4T>C
|
rs949646980
|
|
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys)
|
rs1717925328
|
|
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg)
|
rs375244642
|
|
NM_020166.5(MCCC1):c.300C>G (p.Pro100=)
|
rs747409426
|
|
NM_020166.5(MCCC1):c.301G>A (p.Ala101Thr)
|
|
|
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys)
|
rs1177891822
|
|
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys)
|
rs144872258
|
|
NM_020166.5(MCCC1):c.328A>G (p.Met110Val)
|
rs1717919066
|
|
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp)
|
rs754963220
|
|
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe)
|
rs1307589698
|
|
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val)
|
rs1367329678
|
|
NM_020166.5(MCCC1):c.365C>T (p.Ala122Val)
|
|
|
NM_020166.5(MCCC1):c.370-16T>G
|
rs1716772551
|
|
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)
|
|
|
NM_020166.5(MCCC1):c.389G>T (p.Gly130Val)
|
rs2108528600
|
|
NM_020166.5(MCCC1):c.401A>G (p.Glu134Gly)
|
rs2108528559
|
|
NM_020166.5(MCCC1):c.415G>A (p.Ala139Thr)
|
rs1436217339
|
|
NM_020166.5(MCCC1):c.437G>C (p.Gly146Ala)
|
|
|
NM_020166.5(MCCC1):c.43G>A (p.Glu15Lys)
|
|
|
NM_020166.5(MCCC1):c.452G>A (p.Gly151Asp)
|
rs2108528467
|
|
NM_020166.5(MCCC1):c.453C>T (p.Gly151=)
|
rs1716764203
|
|
NM_020166.5(MCCC1):c.454C>T (p.Pro152Ser)
|
rs1022408190
|
|
NM_020166.5(MCCC1):c.480G>A (p.Met160Ile)
|
|
|
NM_020166.5(MCCC1):c.487A>C (p.Lys163Gln)
|
rs747747680
|
|
NM_020166.5(MCCC1):c.497C>T (p.Ser166Phe)
|
rs2108526692
|
|
NM_020166.5(MCCC1):c.503C>A (p.Ser168Tyr)
|
rs2108526676
|
|
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala)
|
rs1716671130
|
|
NM_020166.5(MCCC1):c.59A>G (p.His20Arg)
|
rs751663186
|
|
NM_020166.5(MCCC1):c.5C>A (p.Ala2Glu)
|
|
|
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr)
|
rs1406515651
|
|
NM_020166.5(MCCC1):c.622C>T (p.Arg208Trp)
|
|
|
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp)
|
rs186209189
|
|
NM_020166.5(MCCC1):c.639+18_639+19insAAGATTGTGCATGCTTCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
NM_020166.5(MCCC1):c.639+6A>T
|
|
|
NM_020166.5(MCCC1):c.640_641delGG
|
rs886058209
|
|
NM_020166.5(MCCC1):c.649A>T (p.Ile217Phe)
|
|
|
NM_020166.5(MCCC1):c.68C>T (p.Pro23Leu)
|
|
|
NM_020166.5(MCCC1):c.700G>A (p.Glu234Lys)
|
rs2108525897
|
|
NM_020166.5(MCCC1):c.729T>C (p.Ala243=)
|
rs886058208
|
|
NM_020166.5(MCCC1):c.730A>G (p.Met244Val)
|
rs369227006
|
|
NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser)
|
rs149389595
|
|
NM_020166.5(MCCC1):c.763C>A (p.His255Asn)
|
rs952365421
|
|
NM_020166.5(MCCC1):c.766G>A (p.Val256Ile)
|
|
|
NM_020166.5(MCCC1):c.768A>G (p.Val256=)
|
rs567236851
|
|
NM_020166.5(MCCC1):c.794A>G (p.His265Arg)
|
rs759707763
|
|
NM_020166.5(MCCC1):c.801T>A (p.Asn267Lys)
|
|
|
NM_020166.5(MCCC1):c.806T>C (p.Val269Ala)
|
rs1315920706
|
|
NM_020166.5(MCCC1):c.825C>A (p.Asp275Glu)
|
|
|
NM_020166.5(MCCC1):c.826T>G (p.Cys276Gly)
|
|
|
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly)
|
rs1715498129
|
|
NM_020166.5(MCCC1):c.830G>A (p.Ser277Asn)
|
rs2108505562
|
|
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly)
|
rs1267237320
|
|
NM_020166.5(MCCC1):c.872C>A (p.Ala291Glu)
|
rs201041864
|
|
NM_020166.5(MCCC1):c.873_873+3dup
|
rs2108505458
|
|
NM_020166.5(MCCC1):c.880A>G (p.Ile294Val)
|
|
|
NM_020166.5(MCCC1):c.916G>T (p.Ala306Ser)
|
rs1191290699
|
|
NM_020166.5(MCCC1):c.918A>C (p.Ala306=)
|
rs1715030459
|
|
NM_020166.5(MCCC1):c.925G>A (p.Ala309Thr)
|
rs1715029507
|
|
NM_020166.5(MCCC1):c.928G>C (p.Ala310Pro)
|
|
|
NM_020166.5(MCCC1):c.942T>A (p.Asn314Lys)
|
|
|
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala)
|
rs1577295874
|
|
NM_020166.5(MCCC1):c.950G>T (p.Gly317Val)
|
rs1577295874
|
|
NM_020166.5(MCCC1):c.955+6T>C
|
|
|
NM_020166.5(MCCC1):c.955G>A (p.Gly319Arg)
|
|
|
NM_020166.5(MCCC1):c.956G>A (p.Gly319Glu)
|
rs2108486818
|
|
NM_020166.5(MCCC1):c.984A>C (p.Lys328Asn)
|
|
|
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly)
|
rs886058207
|
|
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
|
|
|
NM_022132.5(MCCC2):c.*1591A>C
|
rs1388895100
|
|
NM_022132.5(MCCC2):c.*1650G>A
|
rs902451036
|
|
NM_022132.5(MCCC2):c.*16T>A
|
rs1747596046
|
|
NM_022132.5(MCCC2):c.*246A>G
|
rs965261367
|
|
NM_022132.5(MCCC2):c.*700G>T
|
rs972036465
|
|
NM_022132.5(MCCC2):c.*843A>C
|
rs1747622599
|
|
NM_022132.5(MCCC2):c.*940C>G
|
rs886060746
|
|
NM_022132.5(MCCC2):c.1010G>C (p.Arg337Thr)
|
rs980603424
|
|
NM_022132.5(MCCC2):c.103C>A (p.Pro35Thr)
|
|
|
NM_022132.5(MCCC2):c.1055G>T (p.Gly352Val)
|
|
|
NM_022132.5(MCCC2):c.1073-27T>C
|
|
|
NM_022132.5(MCCC2):c.1073-9T>C
|
|
|
NM_022132.5(MCCC2):c.1082G>A (p.Arg361Gln)
|
rs991211481
|
|
NM_022132.5(MCCC2):c.1100T>C (p.Val367Ala)
|
|
|
NM_022132.5(MCCC2):c.1153A>G (p.Thr385Ala)
|
|
|
NM_022132.5(MCCC2):c.1159T>G (p.Phe387Val)
|
|
|
NM_022132.5(MCCC2):c.1171T>C (p.Cys391Arg)
|
rs781478040
|
|
NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile)
|
rs531994517
|
|
NM_022132.5(MCCC2):c.1192C>G (p.Leu398Val)
|
|
|
NM_022132.5(MCCC2):c.1196T>A (p.Leu399Gln)
|
rs2112463776
|
|
NM_022132.5(MCCC2):c.1225G>A (p.Val409Ile)
|
rs1373747202
|
|
NM_022132.5(MCCC2):c.122T>G (p.Leu41Arg)
|
|
|
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala)
|
rs371587906
|
|
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly)
|
rs371587906
|
|
NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys)
|
rs1580262373
|
|
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val)
|
rs766591766
|
|
NM_022132.5(MCCC2):c.1275G>A (p.Met425Ile)
|
rs1747359594
|
|
NM_022132.5(MCCC2):c.1285G>C (p.Val429Leu)
|
rs2112467816
|
|
NM_022132.5(MCCC2):c.129G>A (p.Gln43=)
|
rs1580262388
|
|
NM_022132.5(MCCC2):c.1304C>G (p.Pro435Arg)
|
|
|
NM_022132.5(MCCC2):c.1331C>A (p.Ser444Tyr)
|
|
|
NM_022132.5(MCCC2):c.1407dup (p.Ile470fs)
|
rs1561848250
|
|
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp)
|
rs201060452
|
|
NM_022132.5(MCCC2):c.1471G>A (p.Ala491Thr)
|
|
|
NM_022132.5(MCCC2):c.1489-3T>A
|
|
|
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)
|
|
|
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn)
|
rs1391085331
|
|
NM_022132.5(MCCC2):c.152C>T (p.Ala51Val)
|
|
|
NM_022132.5(MCCC2):c.1553A>G (p.Asn518Ser)
|
rs1747471598
|
|
NM_022132.5(MCCC2):c.1554C>A (p.Asn518Lys)
|
rs2112472855
|
|
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser)
|
rs150327768
|
|
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe)
|
rs1747472048
|
|
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly)
|
rs1459143051
|
|
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
|
|
|
NM_022132.5(MCCC2):c.1570G>C (p.Ala524Pro)
|
rs774241918
|
|
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=)
|
rs886060738
|
|
NM_022132.5(MCCC2):c.1574+3G>T
|
|
|
NM_022132.5(MCCC2):c.1574+5G>T
|
rs781483923
|
|
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly)
|
rs1747591661
|
|
NM_022132.5(MCCC2):c.1590_1591delinsTT (p.Ile531Phe)
|
rs2112478243
|
|
NM_022132.5(MCCC2):c.1601C>G (p.Pro534Arg)
|
|
|
NM_022132.5(MCCC2):c.1631G>A (p.Ser544Asn)
|
|
|
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)
|
rs768272570
|
|
NM_022132.5(MCCC2):c.1639G>A (p.Ala547Thr)
|
rs758806872
|
|
NM_022132.5(MCCC2):c.1651G>A (p.Ala551Thr)
|
|
|
NM_022132.5(MCCC2):c.1670A>C (p.Asp557Ala)
|
|
|
NM_022132.5(MCCC2):c.1672T>C (p.Phe558Leu)
|
rs2112478390
|
|
NM_022132.5(MCCC2):c.1674del (p.Phe558fs)
|
rs1747594910
|
|
NM_022132.5(MCCC2):c.170A>G (p.His57Arg)
|
|
|
NM_022132.5(MCCC2):c.176G>A (p.Arg59Gln)
|
|
|
NM_022132.5(MCCC2):c.185A>G (p.His62Arg)
|
rs1745040815
|
|
NM_022132.5(MCCC2):c.196+3A>G
|
rs751519858
|
|
NM_022132.5(MCCC2):c.197-9C>G
|
rs2112293394
|
|
NM_022132.5(MCCC2):c.226A>T (p.Ile76Leu)
|
rs140027063
|
|
NM_022132.5(MCCC2):c.248C>G (p.Pro83Arg)
|
rs1414470105
|
|
NM_022132.5(MCCC2):c.250A>G (p.Arg84Gly)
|
rs1745187009
|
|
NM_022132.5(MCCC2):c.281+5G>T
|
|
|
NM_022132.5(MCCC2):c.284C>T (p.Ser95Phe)
|
|
|
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala)
|
rs770208071
|
|
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys)
|
rs119103219
|
|
NM_022132.5(MCCC2):c.332A>G (p.Asn111Ser)
|
|
|
NM_022132.5(MCCC2):c.335AGG[1] (p.Glu113del)
|
|
|
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)
|
rs758794885
|
|
NM_022132.5(MCCC2):c.365G>A (p.Gly122Asp)
|
|
|
NM_022132.5(MCCC2):c.383+4A>G
|
rs1745349543
|
|
NM_022132.5(MCCC2):c.38C>G (p.Ala13Gly)
|
|
|
NM_022132.5(MCCC2):c.396G>A (p.Met132Ile)
|
|
|
NM_022132.5(MCCC2):c.422A>G (p.Lys141Arg)
|
|
|
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser)
|
rs1468231692
|
|
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His)
|
rs1745481314
|
|
NM_022132.5(MCCC2):c.433T>G (p.Tyr145Asp)
|
rs1745481314
|
|
NM_022132.5(MCCC2):c.437A>G (p.Tyr146Cys)
|
rs2112320371
|
|
NM_022132.5(MCCC2):c.438C>T (p.Tyr146=)
|
rs1745482068
|
|
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr)
|
rs1554134065
|
|
NM_022132.5(MCCC2):c.457C>A (p.Gln153Lys)
|
|
|
NM_022132.5(MCCC2):c.479C>G (p.Ala160Gly)
|
rs2112320728
|
|
NM_022132.5(MCCC2):c.544G>A (p.Ala182Thr)
|
|
|
NM_022132.5(MCCC2):c.554T>C (p.Phe185Ser)
|
|
|
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal)
|
rs797044772
|
|
NM_022132.5(MCCC2):c.560A>G (p.Asp187Gly)
|
|
|
NM_022132.5(MCCC2):c.567C>A (p.Asp189Glu)
|
rs575600077
|
|
NM_022132.5(MCCC2):c.583T>C (p.Phe195Leu)
|
|
|
NM_022132.5(MCCC2):c.598A>G (p.Ile200Val)
|
rs2112329325
|
|
NM_022132.5(MCCC2):c.617T>C (p.Ile206Thr)
|
rs1745586663
|
|
NM_022132.5(MCCC2):c.619G>T (p.Ala207Ser)
|
rs2112329415
|
|
NM_022132.5(MCCC2):c.625-11T>C
|
|
|
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)
|
|
|
NM_022132.5(MCCC2):c.670C>A (p.Pro224Thr)
|
|
|
NM_022132.5(MCCC2):c.703A>G (p.Lys235Glu)
|
|
|
NM_022132.5(MCCC2):c.728G>C (p.Gly243Ala)
|
rs770351523
|
|
NM_022132.5(MCCC2):c.72C>G (p.His24Gln)
|
rs374686220
|
|
NM_022132.5(MCCC2):c.738+2dup
|
rs2112412775
|
|
NM_022132.5(MCCC2):c.738+6A>G
|
|
|
NM_022132.5(MCCC2):c.748G>A (p.Ala250Thr)
|
|
|
NM_022132.5(MCCC2):c.793C>G (p.Leu265Val)
|
|
|
NM_022132.5(MCCC2):c.794T>C (p.Leu265Pro)
|
rs1746740255
|
|
NM_022132.5(MCCC2):c.802A>G (p.Arg268Gly)
|
rs756477001
|
|
NM_022132.5(MCCC2):c.803+6A>G
|
|
|
NM_022132.5(MCCC2):c.811G>A (p.Gly271Arg)
|
rs2112437351
|
|
NM_022132.5(MCCC2):c.848C>T (p.Ala283Val)
|
|
|
NM_022132.5(MCCC2):c.903+4A>T
|
|
|
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)
|
rs757389984
|
|
NM_022132.5(MCCC2):c.940G>A (p.Ala314Thr)
|
rs2112438294
|
|
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)
|
rs1443551700
|
|
NM_022132.5(MCCC2):c.962T>C (p.Val321Ala)
|
|
|
NM_022132.5(MCCC2):c.973C>T (p.Leu325Phe)
|
rs2112438464
|
|
NM_022132.5(MCCC2):c.986T>C (p.Phe329Ser)
|
rs2112438533
|
|
NM_022132.5(MCCC2):c.98C>T (p.Thr33Ile)
|
rs2112251506
|
|
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp)
|
rs1487531101
|
|
NM_025136.3(OPA3):c.-48_-41delCGCCCCGC
|
rs886054542
|
|
NM_025136.4(OPA3):c.*1076A>G
|
rs886054533
|
|
NM_025136.4(OPA3):c.*1254A>C
|
rs886054532
|
|
NM_025136.4(OPA3):c.*1478A>G
|
rs886054531
|
|
NM_025136.4(OPA3):c.*1761A>T
|
rs141446737
|
|
NM_025136.4(OPA3):c.*2188G>A
|
rs1969330324
|
|
NM_025136.4(OPA3):c.*2198C>T
|
rs1969330113
|
|
NM_025136.4(OPA3):c.*2590G>T
|
rs886054527
|
|
NM_025136.4(OPA3):c.*2662G>A
|
rs1969322157
|
|
NM_025136.4(OPA3):c.*2702G>T
|
rs886054526
|
|
NM_025136.4(OPA3):c.*2726G>C
|
rs993813343
|
|
NM_025136.4(OPA3):c.*2859A>T
|
rs534780094
|
|
NM_025136.4(OPA3):c.*2896G>A
|
rs190488484
|
|
NM_025136.4(OPA3):c.*2964T>C
|
rs1969317127
|
|
NM_025136.4(OPA3):c.*302C>T
|
rs886054540
|
|
NM_025136.4(OPA3):c.*3156G>T
|
rs1969314043
|
|
NM_025136.4(OPA3):c.*3245C>T
|
rs1969312880
|
|
NM_025136.4(OPA3):c.*324GT[1]
|
rs571672143
|
|
NM_025136.4(OPA3):c.*3295C>G
|
rs1969311980
|
|
NM_025136.4(OPA3):c.*3358C>G
|
rs965480314
|
|
NM_025136.4(OPA3):c.*3496C>G
|
rs749084024
|
|
NM_025136.4(OPA3):c.*3570C>T
|
rs1969307390
|
|
NM_025136.4(OPA3):c.*3669G>T
|
rs1024454874
|
|
NM_025136.4(OPA3):c.*3804G>A
|
rs890552307
|
|
NM_025136.4(OPA3):c.*4026del
|
rs879119658
|
|
NM_025136.4(OPA3):c.*4026dup
|
rs879119658
|
|
NM_025136.4(OPA3):c.*4241C>T
|
rs375276027
|
|
NM_025136.4(OPA3):c.*4419C>T
|
rs886054523
|
|
NM_025136.4(OPA3):c.*4696ATAA[6]
|
rs58537694
|
|
NM_025136.4(OPA3):c.*4696ATAA[8]
|
rs58537694
|
|
NM_025136.4(OPA3):c.*4696ATAA[9]
|
rs58537694
|
|
NM_025136.4(OPA3):c.*4712del
|
rs886054518
|
|
NM_025136.4(OPA3):c.*4771C>G
|
rs972332094
|
|
NM_025136.4(OPA3):c.*4862_*4865del
|
rs886054515
|
|
NM_025136.4(OPA3):c.*4969C>G
|
rs886054513
|
|
NM_025136.4(OPA3):c.*4975C>T
|
rs567309052
|
|
NM_025136.4(OPA3):c.*50_*52del
|
rs886054541
|
|
NM_025136.4(OPA3):c.*545G>T
|
rs886054538
|
|
NM_025136.4(OPA3):c.*5774G>C
|
rs886054510
|
|
NM_025136.4(OPA3):c.*5774G>T
|
rs886054510
|
|
NM_025136.4(OPA3):c.*6289A>G
|
rs182293743
|
|
NM_025136.4(OPA3):c.*6766C>T
|
rs978118927
|
|
NM_025136.4(OPA3):c.*690G>T
|
rs1969355536
|
|
NM_025136.4(OPA3):c.*7096_*7100del
|
rs565521231
|
|
NM_025136.4(OPA3):c.*713C>G
|
rs143735864
|
|
NM_025136.4(OPA3):c.*986dup
|
rs377547137
|
|
NM_025136.4(OPA3):c.115A>G (p.Thr39Ala)
|
|
|
NM_025136.4(OPA3):c.121A>G (p.Ile41Val)
|
|
|
NM_025136.4(OPA3):c.127C>G (p.Leu43Val)
|
rs2122529195
|
|
NM_025136.4(OPA3):c.131C>T (p.Pro44Leu)
|
rs2122529178
|
|
NM_025136.4(OPA3):c.136G>A (p.Ala46Thr)
|
|
|
NM_025136.4(OPA3):c.142+2_142+3dup
|
rs1555736791
|
|
NM_025136.4(OPA3):c.142+3_142+6del
|
|
|
NM_025136.4(OPA3):c.142+4A>T
|
rs765495449
|
|
NM_025136.4(OPA3):c.142+5G>C
|
rs1250409781
|
|
NM_025136.4(OPA3):c.145T>C (p.Tyr49His)
|
rs1384629048
|
|
NM_025136.4(OPA3):c.170A>G (p.Lys57Arg)
|
|
|
NM_025136.4(OPA3):c.17T>C (p.Phe6Ser)
|
rs2122529643
|
|
NM_025136.4(OPA3):c.182T>C (p.Met61Thr)
|
rs1052079541
|
|
NM_025136.4(OPA3):c.201del (p.Ile68fs)
|
|
|
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr)
|
rs760083523
|
|
NM_025136.4(OPA3):c.206_258del (p.Lys69fs)
|
rs2122440115
|
|
NM_025136.4(OPA3):c.212T>C (p.Leu71Pro)
|
|
|
NM_025136.4(OPA3):c.217dup (p.Glu73fs)
|
rs1555732963
|
|
NM_025136.4(OPA3):c.220G>A (p.Glu74Lys)
|
|
|
NM_025136.4(OPA3):c.220G>T (p.Glu74Ter)
|
|
|
NM_025136.4(OPA3):c.226G>T (p.Ala76Ser)
|
|
|
NM_025136.4(OPA3):c.238G>A (p.Gly80Ser)
|
|
|
NM_025136.4(OPA3):c.239G>T (p.Gly80Val)
|
rs2122440257
|
|
NM_025136.4(OPA3):c.23T>C (p.Met8Thr)
|
|
|
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
|
|
|
NM_025136.4(OPA3):c.248_251dup (p.Gly85fs)
|
rs1555732942
|
|
NM_025136.4(OPA3):c.24G>A (p.Met8Ile)
|
|
|
NM_025136.4(OPA3):c.253G>C (p.Gly85Arg)
|
|
|
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp)
|
rs1599964721
|
|
NM_025136.4(OPA3):c.256G>A (p.Glu86Lys)
|
|
|
NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)
|
|
|
NM_025136.4(OPA3):c.265A>G (p.Ile89Val)
|
|
|
NM_025136.4(OPA3):c.274G>A (p.Val92Met)
|
rs752893027
|
|
NM_025136.4(OPA3):c.275T>C (p.Val92Ala)
|
|
|
NM_025136.4(OPA3):c.289C>G (p.Leu97Val)
|
|
|
NM_025136.4(OPA3):c.293T>G (p.Val98Gly)
|
rs967310075
|
|
NM_025136.4(OPA3):c.296T>G (p.Leu99Arg)
|
rs1555732924
|
|
NM_025136.4(OPA3):c.2TGG[2] (p.Val3del)
|
rs1555736840
|
|
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
|
|
|
NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)
|
|
|
NM_025136.4(OPA3):c.313C>A (p.Gln105Lys)
|
rs80356525
|
|
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
|
|
|
NM_025136.4(OPA3):c.316G>A (p.Ala106Thr)
|
|
|
NM_025136.4(OPA3):c.317C>T (p.Ala106Val)
|
rs764633370
|
|
NM_025136.4(OPA3):c.331_333del (p.Lys111del)
|
rs1353357190
|
|
NM_025136.4(OPA3):c.334del (p.Glu112fs)
|
rs1555732911
|
|
NM_025136.4(OPA3):c.337G>A (p.Glu113Lys)
|
|
|
NM_025136.4(OPA3):c.34C>G (p.Leu12Val)
|
|
|
NM_025136.4(OPA3):c.352G>C (p.Ala118Pro)
|
|
|
NM_025136.4(OPA3):c.360C>A (p.Asn120Lys)
|
|
|
NM_025136.4(OPA3):c.362C>T (p.Ala121Val)
|
|
|
NM_025136.4(OPA3):c.368_369delinsCT (p.Arg123Pro)
|
|
|
NM_025136.4(OPA3):c.373G>C (p.Glu125Gln)
|
|
|
NM_025136.4(OPA3):c.374A>T (p.Glu125Val)
|
|
|
NM_025136.4(OPA3):c.380G>A (p.Gly127Asp)
|
|
|
NM_025136.4(OPA3):c.383_385dup (p.His128_Leu129insHis)
|
|
|
NM_025136.4(OPA3):c.392T>A (p.Leu131Gln)
|
|
|
NM_025136.4(OPA3):c.395C>A (p.Ala132Glu)
|
rs758982194
|
|
NM_025136.4(OPA3):c.395C>T (p.Ala132Val)
|
|
|
NM_025136.4(OPA3):c.40T>G (p.Leu14Val)
|
|
|
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)
|
rs372161100
|
|
NM_025136.4(OPA3):c.417G>C (p.Gln139His)
|
|
|
NM_025136.4(OPA3):c.419_424dup (p.Val140_Gln141dup)
|
rs1363616568
|
|
NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer)
|
|
|
NM_025136.4(OPA3):c.424G>C (p.Ala142Pro)
|
rs535683352
|
|
NM_025136.4(OPA3):c.425C>T (p.Ala142Val)
|
rs2122438899
|
|
NM_025136.4(OPA3):c.427G>C (p.Ala143Pro)
|
|
|
NM_025136.4(OPA3):c.429_430delinsAA (p.Pro144Thr)
|
|
|
NM_025136.4(OPA3):c.431C>A (p.Pro144Gln)
|
rs775398472
|
|
NM_025136.4(OPA3):c.431C>G (p.Pro144Arg)
|
|
|
NM_025136.4(OPA3):c.431del (p.Pro144fs)
|
rs1205708262
|
|
NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)
|
|
|
NM_025136.4(OPA3):c.434C>T (p.Pro145Leu)
|
|
|
NM_025136.4(OPA3):c.436C>A (p.Gln146Lys)
|
|
|
NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)
|
|
|
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
|
|
|
NM_025136.4(OPA3):c.448G>C (p.Glu150Gln)
|
|
|
NM_025136.4(OPA3):c.455T>C (p.Leu152Pro)
|
|
|
NM_025136.4(OPA3):c.458G>T (p.Arg153Leu)
|
|
|
NM_025136.4(OPA3):c.469C>G (p.Gln157Glu)
|
|
|
NM_025136.4(OPA3):c.470_478del (p.Gln157_Val159del)
|
rs745544229
|
|
NM_025136.4(OPA3):c.472G>A (p.Glu158Lys)
|
|
|
NM_025136.4(OPA3):c.484C>G (p.Gln162Glu)
|
|
|
NM_025136.4(OPA3):c.484C>T (p.Gln162Ter)
|
|
|
NM_025136.4(OPA3):c.494A>G (p.Asn165Ser)
|
|
|
NM_025136.4(OPA3):c.502C>T (p.Arg168Trp)
|
rs750946088
|
|
NM_025136.4(OPA3):c.514C>T (p.His172Tyr)
|
rs1293731096
|
|
NM_025136.4(OPA3):c.517G>A (p.Ala173Thr)
|
|
|
NM_025136.4(OPA3):c.532A>G (p.Lys178Glu)
|
rs767372876
|
|
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)
|
rs1343690502
|
|
NM_025136.4(OPA3):c.73A>G (p.Asn25Asp)
|
|
|
NM_025136.4(OPA3):c.77G>T (p.Arg26Leu)
|
rs1302916174
|
|
NM_025136.4(OPA3):c.7G>C (p.Val3Leu)
|
|
|
NM_025136.4(OPA3):c.81del (p.Lys28fs)
|
|
|
NM_025136.4(OPA3):c.87G>T (p.Glu29Asp)
|
rs1194417590
|
|
NM_025136.4(OPA3):c.89C>T (p.Ala30Val)
|
|
|
NM_025136.4(OPA3):c.91G>C (p.Ala31Pro)
|
|
|
NM_025136.4(OPA3):c.94C>T (p.Arg32Cys)
|
|
|
NM_030813.6(CLPB):c.675C>A (p.His225Gln)
|
rs2135658006
|
|
NM_030813.6(CLPB):c.736G>A (p.Val246Ile)
|
|
|
NM_032861.4(SERAC1):c.1003A>G (p.Ile335Val)
|
|
|
NM_032861.4(SERAC1):c.1009C>T (p.Arg337Cys)
|
|
|
NM_032861.4(SERAC1):c.1166G>A (p.Ser389Asn)
|
|
|
NM_032861.4(SERAC1):c.118C>T (p.Leu40Phe)
|
|
|
NM_032861.4(SERAC1):c.1195A>G (p.Ile399Val)
|
|
|
NM_032861.4(SERAC1):c.1203C>A (p.Gly401=)
|
|
|
NM_032861.4(SERAC1):c.1272G>A (p.Met424Ile)
|
|
|
NM_032861.4(SERAC1):c.1308+6G>A
|
|
|
NM_032861.4(SERAC1):c.1334C>A (p.Ala445Asp)
|
rs553879407
|
|
NM_032861.4(SERAC1):c.1364C>G (p.Thr455Ser)
|
rs767870142
|
|
NM_032861.4(SERAC1):c.1365C>T (p.Thr455=)
|
|
|
NM_032861.4(SERAC1):c.1374C>T (p.Ser458=)
|
|
|
NM_032861.4(SERAC1):c.1375G>A (p.Asp459Asn)
|
rs189064007
|
|
NM_032861.4(SERAC1):c.1396A>G (p.Met466Val)
|
|
|
NM_032861.4(SERAC1):c.1491T>A (p.His497Gln)
|
rs1064796860
|
|
NM_032861.4(SERAC1):c.1501+4A>C
|
rs755406082
|
|
NM_032861.4(SERAC1):c.1501+4A>G
|
rs755406082
|
|
NM_032861.4(SERAC1):c.1501+5G>A
|
|
|
NM_032861.4(SERAC1):c.1505T>G (p.Leu502Arg)
|
rs2128410682
|
|
NM_032861.4(SERAC1):c.1519_1521dup (p.Met507_Leu508insMet)
|
|
|
NM_032861.4(SERAC1):c.152A>G (p.Glu51Gly)
|
|
|
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu)
|
rs1554261079
|
|
NM_032861.4(SERAC1):c.1628C>T (p.Ser543Phe)
|
|
|
NM_032861.4(SERAC1):c.1693_1694dup (p.Leu566fs)
|
|
|
NM_032861.4(SERAC1):c.1720C>G (p.Leu574Val)
|
|
|
NM_032861.4(SERAC1):c.1766A>C (p.Glu589Ala)
|
|
|
NM_032861.4(SERAC1):c.1793T>C (p.Met598Thr)
|
|
|
NM_032861.4(SERAC1):c.1825G>A (p.Ala609Thr)
|
|
|
NM_032861.4(SERAC1):c.1829-6C>G
|
|
|
NM_032861.4(SERAC1):c.1839T>A (p.Ile613=)
|
|
|
NM_032861.4(SERAC1):c.1916G>A (p.Arg639His)
|
rs768913919
|
|
NM_032861.4(SERAC1):c.1916G>C (p.Arg639Pro)
|
rs768913919
|
|
NM_032861.4(SERAC1):c.1926_1930del (p.Gln642fs)
|
|
|
NM_032861.4(SERAC1):c.1934G>A (p.Arg645His)
|
|
|
NM_032861.4(SERAC1):c.194T>C (p.Val65Ala)
|
|
|
NM_032861.4(SERAC1):c.1962C>G (p.Asn654Lys)
|
rs1784140439
|
|
NM_032861.4(SERAC1):c.1963_*1del (p.Ter655SerextTer?)
|
|
|
NM_032861.4(SERAC1):c.1965A>G (p.Ter655=)
|
|
|
NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln)
|
rs1384614641
|
|
NM_032861.4(SERAC1):c.206A>G (p.Glu69Gly)
|
rs2128422343
|
|
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
|
rs139301835
|
|
NM_032861.4(SERAC1):c.254G>A (p.Gly85Glu)
|
rs376468988
|
|
NM_032861.4(SERAC1):c.301G>A (p.Ala101Thr)
|
|
|
NM_032861.4(SERAC1):c.340C>T (p.Arg114Trp)
|
|
|
NM_032861.4(SERAC1):c.341G>A (p.Arg114Gln)
|
|
|
NM_032861.4(SERAC1):c.412C>T (p.Arg138Trp)
|
|
|
NM_032861.4(SERAC1):c.429T>A (p.Asp143Glu)
|
|
|
NM_032861.4(SERAC1):c.44G>A (p.Gly15Glu)
|
rs1785406112
|
|
NM_032861.4(SERAC1):c.458G>A (p.Arg153Gln)
|
|
|
NM_032861.4(SERAC1):c.488-3T>G
|
rs2128420377
|
|
NM_032861.4(SERAC1):c.536T>C (p.Ile179Thr)
|
|
|
NM_032861.4(SERAC1):c.566T>C (p.Leu189Pro)
|
|
|
NM_032861.4(SERAC1):c.566T>G (p.Leu189Arg)
|
rs576602246
|
|
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys)
|
rs564717592
|
|
NM_032861.4(SERAC1):c.719A>G (p.Gln240Arg)
|
|
|
NM_032861.4(SERAC1):c.734A>G (p.Gln245Arg)
|
|
|
NM_032861.4(SERAC1):c.738+1927G>C
|
|
|
NM_032861.4(SERAC1):c.738+5G>C
|
|
|
NM_032861.4(SERAC1):c.772C>T (p.Pro258Ser)
|
rs571113650
|
|
NM_032861.4(SERAC1):c.808A>G (p.Thr270Ala)
|
|
|
NM_032861.4(SERAC1):c.819G>A (p.Met273Ile)
|
|
|
NM_032861.4(SERAC1):c.821T>C (p.Phe274Ser)
|
|
|
NM_032861.4(SERAC1):c.863A>C (p.His288Pro)
|
|
|
NM_032861.4(SERAC1):c.86A>G (p.Asp29Gly)
|
rs779737059
|
|
NM_032861.4(SERAC1):c.871A>G (p.Lys291Glu)
|
|
|
NM_032861.4(SERAC1):c.92-13_92-10del
|
rs779302645
|
|
NM_032861.4(SERAC1):c.92-14_92-10del
|
|
|
NM_032861.4(SERAC1):c.931T>C (p.Cys311Arg)
|
rs2128415147
|
|
NM_032861.4(SERAC1):c.940G>T (p.Val314Leu)
|
|
|
NM_032861.4(SERAC1):c.958C>T (p.Arg320Cys)
|
|
|
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)
|
rs754630732
|
|
NM_052845.4(MMAB):c.*1121C>T
|
rs562046988
|
|
NM_052845.4(MMAB):c.*1400G>A
|
rs1883946986
|
|
NM_052845.4(MMAB):c.*2150A>G
|
rs781473185
|
|
NM_052845.4(MMAB):c.*2326C>G
|
rs1210681751
|
|
NM_052845.4(MMAB):c.*2392C>T
|
rs1883900272
|
|
NM_052845.4(MMAB):c.*2736G>C
|
rs747163137
|
|
NM_052845.4(MMAB):c.*3027T>C
|
rs1883879729
|
|
NM_052845.4(MMAB):c.*3152A>T
|
rs886048915
|
|
NM_052845.4(MMAB):c.*3260G>A
|
rs1883871954
|
|
NM_052845.4(MMAB):c.*3296G>A
|
rs777939885
|
|
NM_052845.4(MMAB):c.*348T>G
|
rs1883987573
|
|
NM_052845.4(MMAB):c.*422T>C
|
rs1883979155
|
|
NM_052845.4(MMAB):c.*710C>T
|
rs538702791
|
|
NM_052845.4(MMAB):c.-11C>G
|
rs1228106972
|
|
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys)
|
rs2136210801
|
|
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])
|
rs770077320
|
|
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr)
|
rs147297426
|
|
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp)
|
rs1389815526
|
|
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser)
|
rs1185132313
|
|
NM_052845.4(MMAB):c.249T>G (p.Phe83Leu)
|
rs2136208348
|
|
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp)
|
rs2136203868
|
|
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
|
rs749452007
|
|
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del)
|
rs1555274650
|
|
NM_052845.4(MMAB):c.406C>A (p.Arg136=)
|
rs763783083
|
|
NM_052845.4(MMAB):c.425A>C (p.Tyr142Ser)
|
|
|
NM_052845.4(MMAB):c.430A>G (p.Thr144Ala)
|
|
|
NM_052845.4(MMAB):c.43C>T (p.Arg15Cys)
|
rs921232728
|
|
NM_052845.4(MMAB):c.490C>T (p.Leu164Phe)
|
rs1393437649
|
|
NM_052845.4(MMAB):c.519+13C>T
|
|
|
NM_052845.4(MMAB):c.519+17C>T
|
rs1884195985
|
|
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr)
|
rs1439180009
|
|
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr)
|
rs767774574
|
|
NM_052845.4(MMAB):c.556C>G (p.Arg186Gly)
|
|
|
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)
|
rs773059864
|
|
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)
|
rs1555274496
|
|
NM_052845.4(MMAB):c.569G>T (p.Arg190Leu)
|
|
|
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
|
rs757562796
|
|
NM_052845.4(MMAB):c.57C>T (p.Arg19=)
|
rs10774774
|
|
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu)
|
rs886048927
|
|
NM_052845.4(MMAB):c.604A>G (p.Met202Val)
|
rs1884098738
|
|
NM_052845.4(MMAB):c.616G>A (p.Asp206Asn)
|
|
|
NM_052845.4(MMAB):c.652G>A (p.Asp218Asn)
|
|
|
NM_052845.4(MMAB):c.66C>G (p.Phe22Leu)
|
|
|
NM_052845.4(MMAB):c.676T>C (p.Tyr226His)
|
|
|
NM_052845.4(MMAB):c.689A>C (p.Lys230Thr)
|
|
|
NM_052845.4(MMAB):c.731C>T (p.Ser244Leu)
|
|
|
NM_052845.4(MMAB):c.7G>A (p.Val3Met)
|
rs1884748119
|
|
NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)
|
|
|
NM_145261.4(DNAJC19):c.*190ATTA[1]
|
rs886058203
|
|
NM_145261.4(DNAJC19):c.*528GT[9]
|
rs148074891
|
|
NM_145261.4(DNAJC19):c.121_126del (p.Pro41_Lys42del)
|
|
|
NM_145261.4(DNAJC19):c.136A>G (p.Ser46Gly)
|
|
|
NM_145261.4(DNAJC19):c.145T>C (p.Tyr49His)
|
|
|
NM_145261.4(DNAJC19):c.198A>G (p.Ile66Met)
|
|
|
NM_145261.4(DNAJC19):c.203G>A (p.Gly68Asp)
|
|
|
NM_145261.4(DNAJC19):c.203G>T (p.Gly68Val)
|
rs2108508819
|
|
NM_145261.4(DNAJC19):c.210-14_210-11del
|
|
|
NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr)
|
|
|
NM_145261.4(DNAJC19):c.221A>G (p.Asn74Ser)
|
rs1218208437
|
|
NM_145261.4(DNAJC19):c.226G>A (p.Gly76Arg)
|
|
|
NM_145261.4(DNAJC19):c.229A>G (p.Lys77Glu)
|
|
|
NM_145261.4(DNAJC19):c.246T>A (p.His82Gln)
|
|
|
NM_145261.4(DNAJC19):c.251G>A (p.Arg84Gln)
|
|
|
NM_145261.4(DNAJC19):c.259C>T (p.Leu87Phe)
|
rs1714880831
|
|
NM_145261.4(DNAJC19):c.280+4_280+7del
|
|
|
NM_145261.4(DNAJC19):c.295dup (p.Ile99fs)
|
|
|
NM_145261.4(DNAJC19):c.2T>C (p.Met1Thr)
|
|
|
NM_145261.4(DNAJC19):c.316G>A (p.Ala106Thr)
|
|
|
NM_145261.4(DNAJC19):c.325T>G (p.Leu109Val)
|
rs2108506959
|
|
NM_145261.4(DNAJC19):c.32C>T (p.Thr11Ile)
|
rs1715007911
|
|
NM_145261.4(DNAJC19):c.331G>A (p.Glu111Lys)
|
|
|
NM_145261.4(DNAJC19):c.332A>C (p.Glu111Ala)
|
|
|
NM_145261.4(DNAJC19):c.348del (p.Lys116fs)
|
rs1714802157
|
|
NM_145261.4(DNAJC19):c.41C>T (p.Ala14Val)
|
|
|
NM_145261.4(DNAJC19):c.4G>A (p.Ala2Thr)
|
|
|
NM_145261.4(DNAJC19):c.55+5G>C
|
rs1454974888
|
|
NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe)
|
rs752913622
|
|
NM_145261.4(DNAJC19):c.64G>A (p.Val22Ile)
|
|
|
NM_145261.4(DNAJC19):c.73G>A (p.Ala25Thr)
|
rs2108509645
|
|
NM_172250.3(MMAA):c.*1149C>G
|
rs999175069
|
|
NM_172250.3(MMAA):c.*1221A>G
|
rs1728241243
|
|
NM_172250.3(MMAA):c.*1510C>T
|
rs1045440002
|
|
NM_172250.3(MMAA):c.*1558C>G
|
rs998811243
|
|
NM_172250.3(MMAA):c.*190C>T
|
rs1728208709
|
|
NM_172250.3(MMAA):c.*1924T>C
|
rs886059100
|
|
NM_172250.3(MMAA):c.*2343A>G
|
rs886059103
|
|
NM_172250.3(MMAA):c.*2445A>C
|
rs886059105
|
|
NM_172250.3(MMAA):c.*2448T>C
|
rs914268952
|
|
NM_172250.3(MMAA):c.*2479G>T
|
rs886059107
|
|
NM_172250.3(MMAA):c.*2646G>A
|
rs999780084
|
|
NM_172250.3(MMAA):c.*3125C>T
|
rs886059111
|
|
NM_172250.3(MMAA):c.*3213C>T
|
rs1317371212
|
|
NM_172250.3(MMAA):c.*3385C>T
|
rs1296968983
|
|
NM_172250.3(MMAA):c.*3797A>G
|
rs1578891934
|
|
NM_172250.3(MMAA):c.*3880G>A
|
rs1728325081
|
|
NM_172250.3(MMAA):c.*3934C>G
|
rs753155141
|
|
NM_172250.3(MMAA):c.*4044T>C
|
rs556788892
|
|
NM_172250.3(MMAA):c.*4200G>T
|
rs1346413343
|
|
NM_172250.3(MMAA):c.*581G>T
|
rs936007824
|
|
NM_172250.3(MMAA):c.*611A>C
|
rs1728220748
|
|
NM_172250.3(MMAA):c.*661C>T
|
rs1728222063
|
|
NM_172250.3(MMAA):c.*703C>T
|
rs548243828
|
|
NM_172250.3(MMAA):c.-68C>A
|
rs886059087
|
|
NM_172250.3(MMAA):c.-68C>T
|
rs886059087
|
|
NM_172250.3(MMAA):c.1000G>A (p.Gly334Arg)
|
rs758394680
|
|
NM_172250.3(MMAA):c.1037A>G (p.Gln346Arg)
|
|
|
NM_172250.3(MMAA):c.1044A>C (p.Leu348=)
|
rs754630744
|
|
NM_172250.3(MMAA):c.1048C>T (p.Leu350Phe)
|
rs866580843
|
|
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del)
|
rs1553959122
|
|
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly)
|
rs999844958
|
|
NM_172250.3(MMAA):c.1114del (p.Gln372fs)
|
rs765726949
|
|
NM_172250.3(MMAA):c.1120del (p.Ser374fs)
|
|
|
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu)
|
rs1728200540
|
|
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile)
|
rs1057520160
|
|
NM_172250.3(MMAA):c.1156C>T (p.Arg386Trp)
|
|
|
NM_172250.3(MMAA):c.1162C>T (p.Gln388Ter)
|
|
|
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser)
|
rs895867414
|
|
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)
|
rs886059088
|
|
NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)
|
|
|
NM_172250.3(MMAA):c.208A>C (p.Thr70Pro)
|
rs1328208245
|
|
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)
|
rs148404005
|
|
NM_172250.3(MMAA):c.282_287del (p.Ile94_Gly96delinsMet)
|
|
|
NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)
|
|
|
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr)
|
rs1553957915
|
|
NM_172250.3(MMAA):c.314T>C (p.Ile105Thr)
|
|
|
NM_172250.3(MMAA):c.335A>G (p.His112Arg)
|
rs2126617469
|
|
NM_172250.3(MMAA):c.346A>C (p.Lys116Gln)
|
|
|
NM_172250.3(MMAA):c.362T>C (p.Val121Ala)
|
|
|
NM_172250.3(MMAA):c.373A>G (p.Lys125Glu)
|
rs1727722684
|
|
NM_172250.3(MMAA):c.383T>C (p.Leu128Pro)
|
rs560188002
|
|
NM_172250.3(MMAA):c.439+4_439+7del
|
rs1553957939
|
|
NM_172250.3(MMAA):c.457G>A (p.Gly153Ser)
|
|
|
NM_172250.3(MMAA):c.46C>A (p.Leu16Ile)
|
|
|
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly)
|
rs1553958153
|
|
NM_172250.3(MMAA):c.509G>C (p.Arg170Thr)
|
|
|
NM_172250.3(MMAA):c.541C>G (p.Pro181Ala)
|
|
|
NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del)
|
|
|
NM_172250.3(MMAA):c.562+4A>C
|
rs1336573288
|
|
NM_172250.3(MMAA):c.599T>C (p.Leu200Ser)
|
|
|
NM_172250.3(MMAA):c.65G>T (p.Arg22Leu)
|
rs375682603
|
|
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)
|
rs920825350
|
|
NM_172250.3(MMAA):c.691T>C (p.Cys231Arg)
|
rs2126622891
|
|
NM_172250.3(MMAA):c.718C>G (p.Leu240Val)
|
rs752844506
|
|
NM_172250.3(MMAA):c.730G>T (p.Val244Phe)
|
rs771044996
|
|
NM_172250.3(MMAA):c.761C>T (p.Ala254Val)
|
|
|
NM_172250.3(MMAA):c.776T>C (p.Met259Thr)
|
rs1328403056
|
|
NM_172250.3(MMAA):c.800C>T (p.Ala267Val)
|
rs138854691
|
|
NM_172250.3(MMAA):c.862G>A (p.Val288Ile)
|
rs886059089
|
|
NM_172250.3(MMAA):c.889G>A (p.Val297Met)
|
|
|
NM_172250.3(MMAA):c.928C>G (p.Leu310Val)
|
rs1728166357
|
|
NM_172250.3(MMAA):c.970G>A (p.Val324Ile)
|
rs1010220185
|
|