NM_183050.4(BCKDHB):c.*395G>T
|
rs4706116
|
0.95752
|
NM_001918.5(DBT):c.*6902T>A
|
rs200943386
|
0.79813
|
NM_001918.5(DBT):c.*5546G>A
|
rs11166412
|
0.78278
|
NM_183050.4(BCKDHB):c.*627T>C
|
rs4706838
|
0.78227
|
NM_183050.4(BCKDHB):c.*2271G>A
|
rs15062
|
0.78187
|
NM_183050.4(BCKDHB):c.*994G>A
|
rs4502885
|
0.78179
|
NM_183050.4(BCKDHB):c.*1875G>A
|
rs7759304
|
0.78177
|
NM_183050.4(BCKDHB):c.*2282C>T
|
rs10864
|
0.78176
|
NM_183050.4(BCKDHB):c.*1892T>C
|
rs7740958
|
0.78169
|
NM_183050.4(BCKDHB):c.*1778A>G
|
rs7758761
|
0.78168
|
NM_183050.4(BCKDHB):c.*304G>A
|
rs926731
|
0.78168
|
NM_183050.4(BCKDHB):c.*1241A>G
|
rs1042368
|
0.78159
|
NM_183050.4(BCKDHB):c.*293T>C
|
rs926732
|
0.78149
|
NM_183050.4(BCKDHB):c.*1810T>C
|
rs7740932
|
0.78143
|
NM_183050.4(BCKDHB):c.*789C>T
|
rs4706118
|
0.78112
|
NM_183050.4(BCKDHB):c.*805T>C
|
rs4706839
|
0.78101
|
NM_183050.4(BCKDHB):c.*121G>A
|
rs926733
|
0.77743
|
NM_183050.4(BCKDHB):c.*1444T>C
|
rs3805848
|
0.77735
|
NM_183050.4(BCKDHB):c.*1142C>G
|
rs1042367
|
0.75871
|
NM_001918.5(DBT):c.*3233C>T
|
rs2784174
|
0.74803
|
NM_001918.5(DBT):c.*5150A>G
|
rs6701655
|
0.74788
|
NM_001918.5(DBT):c.*6228A>T
|
rs4281338
|
0.74605
|
NM_183050.4(BCKDHB):c.*345C>T
|
rs1811844
|
0.66759
|
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=)
|
rs4674
|
0.66668
|
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=)
|
rs284652
|
0.66509
|
NM_002291.3(LAMB1):c.5225-7C>T
|
rs3213673
|
0.64814
|
NM_000709.4(BCKDHA):c.376-10A>C
|
rs3213861
|
0.59120
|
NM_183050.4(BCKDHB):c.197-11G>T
|
rs9448894
|
0.42545
|
NM_183050.4(BCKDHB):c.*731C>T
|
rs4706117
|
0.39858
|
NM_001918.5(DBT):c.1210-9A>T
|
rs34229137
|
0.31080
|
NM_001918.5(DBT):c.*5317T>C
|
rs11166413
|
0.30273
|
NM_001918.5(DBT):c.*6903T>A
|
rs10783125
|
0.12973
|
NM_001918.5(DBT):c.*9082C>T
|
rs72728160
|
0.12046
|
NM_000709.3(BCKDHA):c.-34T>G
|
rs45500792
|
0.09943
|
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)
|
rs11549936
|
0.07892
|
NM_183050.4(BCKDHB):c.*832C>T
|
rs60566469
|
0.06661
|
NM_001918.5(DBT):c.1210-10T>A
|
rs183058253
|
0.04736
|
NM_001918.5(DBT):c.*4395G>A
|
rs79471979
|
0.04616
|
NM_001918.5(DBT):c.*985C>T
|
rs11166414
|
0.04442
|
NM_001918.5(DBT):c.*5838G>A
|
rs79887429
|
0.04380
|
NM_183050.4(BCKDHB):c.*236G>A
|
rs145101575
|
0.04280
|
NM_001918.5(DBT):c.715A>G (p.Ile239Val)
|
rs72973763
|
0.03442
|
NM_001918.5(DBT):c.*6646G>T
|
rs72973747
|
0.03031
|
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=)
|
rs34492894
|
0.02893
|
NM_000709.4(BCKDHA):c.996-6G>A
|
rs74586298
|
0.02713
|
NM_001918.5(DBT):c.*344G>T
|
rs58607634
|
0.02661
|
NM_000709.4(BCKDHA):c.*309A>G
|
rs10421626
|
0.02605
|
NM_001918.5(DBT):c.*8977T>C
|
rs113536022
|
0.02409
|
NM_001918.5(DBT):c.*8983dup
|
rs67820832
|
0.02408
|
NM_001918.5(DBT):c.*4872A>G
|
rs12044663
|
0.02047
|
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=)
|
rs10404506
|
0.01970
|
NM_001918.5(DBT):c.*470G>A
|
rs148424011
|
0.01941
|
NM_183050.4(BCKDHB):c.*1158T>G
|
rs74705661
|
0.01826
|
NM_183050.4(BCKDHB):c.*726A>G
|
rs147544283
|
0.01811
|
NM_001918.5(DBT):c.*8607G>A
|
rs150241889
|
0.01296
|
NM_001918.5(DBT):c.*5919A>G
|
rs115442245
|
0.01236
|
NM_183050.4(BCKDHB):c.*440A>T
|
rs113404985
|
0.01152
|
NM_001918.5(DBT):c.1281+6T>G
|
rs140115881
|
0.01022
|
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)
|
rs34541442
|
0.00893
|
NM_001918.5(DBT):c.724T>C (p.Ser242Pro)
|
rs146249007
|
0.00864
|
NM_001918.5(DBT):c.*8552A>T
|
rs543411196
|
0.00862
|
NM_000709.4(BCKDHA):c.*125C>T
|
rs140867211
|
0.00851
|
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)
|
rs34442879
|
0.00790
|
NM_001918.5(DBT):c.*6901T>A
|
rs200062717
|
0.00778
|
NM_000709.4(BCKDHA):c.995+9C>T
|
rs13343330
|
0.00750
|
NM_001918.5(DBT):c.*7358C>T
|
rs143822588
|
0.00725
|
NM_001918.5(DBT):c.*8944A>G
|
rs77587629
|
0.00713
|
NM_001918.5(DBT):c.*4094C>A
|
rs74825164
|
0.00603
|
NM_001918.5(DBT):c.*3652G>C
|
rs755229964
|
0.00400
|
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)
|
rs55940366
|
0.00365
|
NM_001918.5(DBT):c.506G>A (p.Arg169Gln)
|
rs34267966
|
0.00341
|
NM_001918.5(DBT):c.*2810A>G
|
rs116578353
|
0.00337
|
NM_001918.5(DBT):c.*5347C>T
|
rs116806523
|
0.00337
|
NM_001918.5(DBT):c.*4124C>A
|
rs139169068
|
0.00327
|
NM_000709.4(BCKDHA):c.484+5G>A
|
rs149899007
|
0.00298
|
NM_183050.4(BCKDHB):c.*2212T>C
|
rs191556844
|
0.00257
|
NM_183050.4(BCKDHB):c.*1798C>T
|
rs535334878
|
0.00251
|
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser)
|
rs75525811
|
0.00196
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
NM_001918.5(DBT):c.*5328C>G
|
rs150770445
|
0.00175
|
NM_001918.5(DBT):c.*594A>G
|
rs147781191
|
0.00150
|
NM_000709.4(BCKDHA):c.*334C>T
|
rs528816040
|
0.00133
|
NM_001918.5(DBT):c.*3461A>G
|
rs532058526
|
0.00125
|
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)
|
rs17173144
|
0.00103
|
NM_001918.5(DBT):c.*8083C>T
|
rs190798710
|
0.00103
|
NM_001918.5(DBT):c.*8663T>C
|
rs576300118
|
0.00103
|
NM_000709.4(BCKDHA):c.840C>T (p.Arg280=)
|
rs61737367
|
0.00101
|
NM_001918.5(DBT):c.*1917C>A
|
rs886044957
|
0.00096
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
NM_001918.5(DBT):c.*2074A>C
|
rs536515775
|
0.00092
|
NM_000709.4(BCKDHA):c.376-4C>T
|
rs199725420
|
0.00084
|
NM_001918.5(DBT):c.*3521G>A
|
rs754461561
|
0.00083
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
NM_001918.5(DBT):c.*4273C>A
|
rs12568926
|
0.00074
|
NM_001918.5(DBT):c.*4506A>G
|
rs112901689
|
0.00064
|
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)
|
rs374403946
|
0.00062
|
NM_000709.4(BCKDHA):c.*244C>T
|
rs749083860
|
0.00061
|
NM_183050.4(BCKDHB):c.*1603G>A
|
rs143744799
|
0.00057
|
NM_001918.5(DBT):c.*5969C>T
|
rs141483625
|
0.00055
|
NM_183050.4(BCKDHB):c.*1554C>G
|
rs563993638
|
0.00054
|
NM_000709.4(BCKDHA):c.289-5C>T
|
rs200646708
|
0.00053
|
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)
|
rs61736656
|
0.00052
|
NM_183050.4(BCKDHB):c.*83C>T
|
rs564127416
|
0.00052
|
NM_001918.5(DBT):c.*7307G>C
|
rs182980145
|
0.00051
|
NM_001918.5(DBT):c.1210-11T>A
|
rs751951997
|
0.00049
|
NM_001918.5(DBT):c.*9105A>G
|
rs574151688
|
0.00047
|
NM_000108.5(DLD):c.*1791_*1794del
|
rs760145994
|
0.00046
|
NM_001918.5(DBT):c.*1332T>C
|
rs191584096
|
0.00044
|
NM_183050.4(BCKDHB):c.*1010A>G
|
rs536048070
|
0.00044
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
NM_000709.4(BCKDHA):c.*20C>A
|
rs370480422
|
0.00039
|
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr)
|
rs141086188
|
0.00036
|
NM_001918.5(DBT):c.*6716C>G
|
rs529415312
|
0.00033
|
NM_001918.5(DBT):c.*4291C>A
|
rs1256627350
|
0.00032
|
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
|
rs142967869
|
0.00029
|
NM_001918.5(DBT):c.*9123A>G
|
rs79752201
|
0.00029
|
NM_000709.3(BCKDHA):c.-25G>C
|
rs202084220
|
0.00028
|
NM_001918.5(DBT):c.*1322C>T
|
rs941752024
|
0.00026
|
NM_001918.5(DBT):c.*347C>T
|
rs372982170
|
0.00026
|
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)
|
rs147719822
|
0.00026
|
NM_001918.5(DBT):c.*4507T>C
|
rs762813875
|
0.00025
|
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)
|
rs137960127
|
0.00024
|
NM_001918.5(DBT):c.*5877G>C
|
rs562874757
|
0.00024
|
NM_001918.5(DBT):c.*7698C>T
|
rs185528579
|
0.00024
|
NM_001918.5(DBT):c.1210-8A>T
|
rs535837017
|
0.00023
|
NM_183050.4(BCKDHB):c.*574A>G
|
rs527284649
|
0.00023
|
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)
|
rs147021347
|
0.00021
|
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)
|
rs150177278
|
0.00021
|
NM_001918.5(DBT):c.*2092A>T
|
rs1055914530
|
0.00021
|
NM_001918.5(DBT):c.*5875T>G
|
rs761370134
|
0.00021
|
NM_001918.5(DBT):c.*4250C>T
|
rs774122510
|
0.00020
|
NM_183050.4(BCKDHB):c.*1315G>A
|
rs760136719
|
0.00020
|
NM_183050.4(BCKDHB):c.*2072C>T
|
rs183153737
|
0.00020
|
NM_183050.4(BCKDHB):c.*921C>T
|
rs542630714
|
0.00020
|
NM_000709.4(BCKDHA):c.*314A>G
|
rs535136507
|
0.00019
|
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=)
|
rs368345065
|
0.00019
|
NM_183050.4(BCKDHB):c.987C>T (p.His329=)
|
rs138670449
|
0.00019
|
NM_001918.5(DBT):c.*9153_*9156del
|
rs780877675
|
0.00017
|
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser)
|
rs148090804
|
0.00016
|
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)
|
rs143608852
|
0.00016
|
NM_001918.5(DBT):c.*295G>A
|
rs556913110
|
0.00015
|
NM_001918.5(DBT):c.*918G>T
|
rs555064255
|
0.00015
|
NM_000709.4(BCKDHA):c.*134C>T
|
rs150173947
|
0.00014
|
NM_001918.5(DBT):c.*8275A>G
|
rs189649370
|
0.00014
|
NM_001918.5(DBT):c.747C>A (p.Gly249=)
|
rs200612682
|
0.00013
|
NM_001918.5(DBT):c.*4377C>G
|
rs886044946
|
0.00012
|
NM_001918.5(DBT):c.*722C>T
|
rs886044960
|
0.00012
|
NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp)
|
rs140612545
|
0.00011
|
NM_001918.5(DBT):c.*2088A>T
|
rs771850946
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
|
rs775471043
|
0.00010
|
NM_001918.5(DBT):c.*2851C>T
|
rs1023974357
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_001918.5(DBT):c.*3336_*3338dup
|
rs886044950
|
0.00009
|
NM_001918.5(DBT):c.*3789A>C
|
rs757800211
|
0.00009
|
NM_001918.5(DBT):c.*4313G>A
|
rs187287215
|
0.00009
|
NM_001918.5(DBT):c.*8118T>C
|
rs758082965
|
0.00009
|
NM_001918.5(DBT):c.*8670A>G
|
rs959425245
|
0.00009
|
NM_001918.5(DBT):c.*9228C>T
|
rs1009840621
|
0.00009
|
NM_183050.4(BCKDHB):c.*466G>T
|
rs886061809
|
0.00009
|
NM_001918.5(DBT):c.*3245G>A
|
rs1266134285
|
0.00008
|
NM_001918.5(DBT):c.*7469T>C
|
rs897269544
|
0.00008
|
NM_183050.4(BCKDHB):c.*569G>A
|
rs1000319023
|
0.00008
|
NM_183050.4(BCKDHB):c.*644C>T
|
rs535962304
|
0.00008
|
NM_183050.4(BCKDHB):c.*763G>A
|
rs563470467
|
0.00008
|
NM_000709.4(BCKDHA):c.*384C>T
|
rs535473868
|
0.00007
|
NM_000709.4(BCKDHA):c.288+10G>A
|
rs376894084
|
0.00007
|
NM_001918.5(DBT):c.*8074G>A
|
rs550751216
|
0.00007
|
NM_183050.4(BCKDHB):c.*2224T>A
|
rs1037438345
|
0.00007
|
NM_001918.5(DBT):c.*1747A>G
|
rs886044958
|
0.00006
|
NM_001918.5(DBT):c.*3455C>T
|
rs886044949
|
0.00006
|
NM_001918.5(DBT):c.*551C>T
|
rs756147809
|
0.00006
|
NM_001918.5(DBT):c.*5784T>C
|
rs187688215
|
0.00006
|
NM_001918.5(DBT):c.*8734A>C
|
rs564195699
|
0.00006
|
NM_001918.5(DBT):c.1127G>A (p.Arg376His)
|
rs150934375
|
0.00006
|
NM_183050.4(BCKDHB):c.*1908A>G
|
rs368380717
|
0.00006
|
NM_000709.4(BCKDHA):c.*126G>A
|
rs748757436
|
0.00005
|
NM_001918.5(DBT):c.*4864C>T
|
rs920810590
|
0.00005
|
NM_001918.5(DBT):c.*9230T>C
|
rs893701906
|
0.00005
|
NM_001918.5(DBT):c.1111G>A (p.Ala371Thr)
|
rs777868718
|
0.00005
|
NM_001918.5(DBT):c.291C>T (p.Ser97=)
|
rs201318480
|
0.00005
|
NM_000709.4(BCKDHA):c.*213G>A
|
rs766667517
|
0.00004
|
NM_000709.4(BCKDHA):c.*68G>A
|
rs375492462
|
0.00004
|
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys)
|
rs201168715
|
0.00004
|
NM_000709.4(BCKDHA):c.436G>A (p.Ala146Thr)
|
rs373078413
|
0.00004
|
NM_001918.5(DBT):c.*293C>T
|
rs1017324148
|
0.00004
|
NM_001918.5(DBT):c.*3586A>G
|
rs541279304
|
0.00004
|
NM_001918.5(DBT):c.*8080C>G
|
rs1018443361
|
0.00004
|
NM_001918.5(DBT):c.*8226G>T
|
rs560160662
|
0.00004
|
NM_000709.4(BCKDHA):c.108+12G>A
|
rs780834493
|
0.00003
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)
|
rs201366184
|
0.00003
|
NM_000709.4(BCKDHA):c.976A>G (p.Ile326Val)
|
rs781688443
|
0.00003
|
NM_001918.5(DBT):c.*2271A>C
|
rs768839953
|
0.00003
|
NM_001918.5(DBT):c.*488G>A
|
rs778739081
|
0.00003
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
NM_000709.4(BCKDHA):c.261G>T (p.Gln87His)
|
rs751862507
|
0.00002
|
NM_001918.5(DBT):c.*3187C>G
|
rs886044952
|
0.00002
|
NM_001918.5(DBT):c.*642T>C
|
rs1055527758
|
0.00002
|
NM_001918.5(DBT):c.*8073C>T
|
rs886044941
|
0.00002
|
NM_183050.4(BCKDHB):c.*2018A>G
|
rs1049658494
|
0.00002
|
NM_183050.4(BCKDHB):c.*2245C>G
|
rs537076572
|
0.00002
|
NM_183050.4(BCKDHB):c.*922A>G
|
rs371667903
|
0.00002
|
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)
|
rs537988425
|
0.00002
|
NM_000709.4(BCKDHA):c.*17C>T
|
rs372125840
|
0.00001
|
NM_000709.4(BCKDHA):c.*324G>A
|
rs564517344
|
0.00001
|
NM_000709.4(BCKDHA):c.*335G>A
|
rs886054463
|
0.00001
|
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)
|
rs369278165
|
0.00001
|
NM_000709.4(BCKDHA):c.882G>A (p.Met294Ile)
|
rs1568508232
|
0.00001
|
NM_000709.4(BCKDHA):c.925G>A (p.Ala309Thr)
|
rs760651615
|
0.00001
|
NM_001918.3(DBT):c.-40T>A
|
rs1314975626
|
0.00001
|
NM_001918.5(DBT):c.*1572A>G
|
rs1424615850
|
0.00001
|
NM_001918.5(DBT):c.*2119G>A
|
rs928405900
|
0.00001
|
NM_001918.5(DBT):c.*2822T>G
|
rs747199821
|
0.00001
|
NM_001918.5(DBT):c.*3135G>A
|
rs886044953
|
0.00001
|
NM_001918.5(DBT):c.*4425C>A
|
rs1030557885
|
0.00001
|
NM_001918.5(DBT):c.*5591T>C
|
rs749879959
|
0.00001
|
NM_001918.5(DBT):c.*5638C>T
|
rs886044944
|
0.00001
|
NM_001918.5(DBT):c.*6270A>G
|
rs1435365769
|
0.00001
|
NM_001918.5(DBT):c.*635C>T
|
rs886044962
|
0.00001
|
NM_001918.5(DBT):c.*7187G>A
|
rs886044942
|
0.00001
|
NM_001918.5(DBT):c.*7369G>A
|
rs893354618
|
0.00001
|
NM_001918.5(DBT):c.*8385A>C
|
rs886044940
|
0.00001
|
NM_001918.5(DBT):c.*8830T>C
|
rs1660613432
|
0.00001
|
NM_001918.5(DBT):c.1036A>G (p.Ile346Val)
|
rs1302449788
|
0.00001
|
NM_001918.5(DBT):c.198G>A (p.Gln66=)
|
rs201714436
|
0.00001
|
NM_183050.4(BCKDHB):c.*896A>G
|
rs886061811
|
0.00001
|
NM_183050.4(BCKDHB):c.1031C>T (p.Thr344Ile)
|
rs761138547
|
0.00001
|
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly)
|
rs150769284
|
0.00001
|
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)
|
rs398124571
|
0.00001
|
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)
|
rs398124603
|
0.00001
|
NM_000108.5(DLD):c.267+15del
|
rs886061906
|
|
NM_000709.4(BCKDHA):c.*301G>A
|
rs2039411821
|
|
NM_000709.4(BCKDHA):c.*365A>G
|
rs886054464
|
|
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=)
|
rs11549935
|
|
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=)
|
rs11549935
|
|
NM_000709.4(BCKDHA):c.143T>C (p.Leu48Pro)
|
rs879103338
|
|
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=)
|
rs2039284438
|
|
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=)
|
rs114716391
|
|
NM_000709.4(BCKDHA):c.842G>T (p.Gly281Val)
|
rs886054461
|
|
NM_000709.4(BCKDHA):c.995+8C>T
|
rs886054462
|
|
NM_000709.4(BCKDHA):c.995+9C>G
|
rs13343330
|
|
NM_001918.5(DBT):c.*1064del
|
rs553113077
|
|
NM_001918.5(DBT):c.*1064dup
|
rs553113077
|
|
NM_001918.5(DBT):c.*1640C>T
|
rs1660988947
|
|
NM_001918.5(DBT):c.*2021C>T
|
rs1660952850
|
|
NM_001918.5(DBT):c.*2114T>C
|
rs886044956
|
|
NM_001918.5(DBT):c.*2130G>A
|
rs1394399367
|
|
NM_001918.5(DBT):c.*2213T>C
|
rs1660939902
|
|
NM_001918.5(DBT):c.*2363G>T
|
rs886044955
|
|
NM_001918.5(DBT):c.*2542del
|
rs570425342
|
|
NM_001918.5(DBT):c.*2619G>A
|
rs541064624
|
|
NM_001918.5(DBT):c.*2633AAAT[5]
|
rs773873766
|
|
NM_001918.5(DBT):c.*2633AAAT[7]
|
rs773873766
|
|
NM_001918.5(DBT):c.*3022G>A
|
rs1660889107
|
|
NM_001918.5(DBT):c.*3027A>G
|
rs886044954
|
|
NM_001918.5(DBT):c.*3201G>A
|
rs886044951
|
|
NM_001918.5(DBT):c.*3240T>A
|
rs1660880039
|
|
NM_001918.5(DBT):c.*3693C>G
|
rs1660860600
|
|
NM_001918.5(DBT):c.*3859T>C
|
rs1570793211
|
|
NM_001918.5(DBT):c.*3869del
|
rs141830881
|
|
NM_001918.5(DBT):c.*3995G>T
|
rs988697898
|
|
NM_001918.5(DBT):c.*4237A>C
|
rs1660837776
|
|
NM_001918.5(DBT):c.*4281del
|
rs886044948
|
|
NM_001918.5(DBT):c.*4321G>T
|
rs886044947
|
|
NM_001918.5(DBT):c.*4446C>G
|
rs752398323
|
|
NM_001918.5(DBT):c.*456C>G
|
rs886044963
|
|
NM_001918.5(DBT):c.*4576G>A
|
rs531886164
|
|
NM_001918.5(DBT):c.*4576G>C
|
rs531886164
|
|
NM_001918.5(DBT):c.*4688G>T
|
rs573460625
|
|
NM_001918.5(DBT):c.*5380G>C
|
rs1660776922
|
|
NM_001918.5(DBT):c.*5561A>G
|
rs886044945
|
|
NM_001918.5(DBT):c.*5959A>G
|
rs567706972
|
|
NM_001918.5(DBT):c.*6114_*6115del
|
rs3081711
|
|
NM_001918.5(DBT):c.*6413C>T
|
rs1660732127
|
|
NM_001918.5(DBT):c.*64A>G
|
rs1661077106
|
|
NM_001918.5(DBT):c.*6771A>C
|
rs986607367
|
|
NM_001918.5(DBT):c.*6771A>G
|
rs986607367
|
|
NM_001918.5(DBT):c.*678TTAA[1]
|
rs886044961
|
|
NM_001918.5(DBT):c.*6903del
|
rs71709231
|
|
NM_001918.5(DBT):c.*7223C>T
|
rs1660695055
|
|
NM_001918.5(DBT):c.*7690T>C
|
rs535852086
|
|
NM_001918.5(DBT):c.*7942G>A
|
rs1660663776
|
|
NM_001918.5(DBT):c.*8471T>C
|
rs1660634228
|
|
NM_001918.5(DBT):c.*8552_*8553insT
|
rs886044939
|
|
NM_001918.5(DBT):c.*8554dup
|
rs886044938
|
|
NM_001918.5(DBT):c.*8642C>G
|
rs886044937
|
|
NM_001918.5(DBT):c.*8900A>T
|
rs886044936
|
|
NM_001918.5(DBT):c.*9058C>T
|
rs886044935
|
|
NM_001918.5(DBT):c.1210-10dup
|
rs398123658
|
|
NM_001918.5(DBT):c.1282-14_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-5_1282-1del
|
rs1557939353
|
|
NM_001918.5(DBT):c.1364T>C (p.Ile455Thr)
|
rs1570796358
|
|
NM_001918.5(DBT):c.1389C>T (p.Phe463=)
|
rs886044964
|
|
NM_183050.3(BCKDHB):c.-41C>T
|
rs763746493
|
|
NM_183050.4(BCKDHB):c.*1008T>C
|
rs1283478954
|
|
NM_183050.4(BCKDHB):c.*1143A>G
|
rs1770126804
|
|
NM_183050.4(BCKDHB):c.*1162T>C
|
rs886061812
|
|
NM_183050.4(BCKDHB):c.*1239dup
|
rs772846294
|
|
NM_183050.4(BCKDHB):c.*1279A>G
|
rs1770137265
|
|
NM_183050.4(BCKDHB):c.*1909T>C
|
rs529166544
|
|
NM_183050.4(BCKDHB):c.*2224dup
|
rs757446051
|
|
NM_183050.4(BCKDHB):c.*263C>A
|
rs533006469
|
|
NM_183050.4(BCKDHB):c.*501A>G
|
rs1770079109
|
|
NM_183050.4(BCKDHB):c.*540T>C
|
rs201154827
|
|
NM_183050.4(BCKDHB):c.*559_*560del
|
rs10579475
|
|
NM_183050.4(BCKDHB):c.*559_*560dup
|
rs10579475
|
|
NM_183050.4(BCKDHB):c.*560dup
|
rs10579475
|
|
NM_183050.4(BCKDHB):c.*777G>C
|
rs954822411
|
|
NM_183050.4(BCKDHB):c.1112T>C (p.Phe371Ser)
|
rs750930993
|
|
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)
|
rs376293687
|
|
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)
|
rs376293687
|
|
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)
|
rs398124587
|
|