NM_183050.4(BCKDHB):c.344-88C>T
|
rs73479950
|
0.06563
|
NM_183050.4(BCKDHB):c.*1798C>T
|
rs535334878
|
0.00251
|
NM_183050.4(BCKDHB):c.742+16A>G
|
rs140373763
|
0.00220
|
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)
|
rs143427811
|
0.00086
|
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val)
|
rs9448884
|
0.00068
|
NM_183050.4(BCKDHB):c.*83C>T
|
rs564127416
|
0.00052
|
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)
|
rs142858149
|
0.00039
|
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)
|
rs147719822
|
0.00026
|
NM_183050.4(BCKDHB):c.*2072C>T
|
rs183153737
|
0.00020
|
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_183050.4(BCKDHB):c.1143G>A (p.Lys381=)
|
rs143579400
|
0.00016
|
NM_183050.4(BCKDHB):c.168C>T (p.Phe56=)
|
rs747705382
|
0.00013
|
NM_183050.4(BCKDHB):c.840+10A>G
|
rs561940940
|
0.00008
|
NM_183050.4(BCKDHB):c.197-16T>C
|
rs759961267
|
0.00005
|
NM_183050.4(BCKDHB):c.111C>T (p.His37=)
|
rs755592273
|
0.00004
|
NM_183050.4(BCKDHB):c.681A>C (p.Ser227=)
|
rs755637620
|
0.00004
|
NM_183050.4(BCKDHB):c.840+15T>C
|
rs764829376
|
0.00004
|
NM_183050.4(BCKDHB):c.36C>T (p.Leu12=)
|
rs1464497822
|
0.00002
|
NM_183050.4(BCKDHB):c.714T>C (p.Phe238=)
|
rs774640066
|
0.00002
|
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)
|
rs537988425
|
0.00002
|
NM_183050.4(BCKDHB):c.789C>T (p.Ala263=)
|
rs145150150
|
0.00002
|
NM_183050.4(BCKDHB):c.1039-10C>T
|
rs760262704
|
0.00001
|
NM_183050.4(BCKDHB):c.1158T>G (p.Leu386=)
|
rs766392710
|
0.00001
|
NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val)
|
rs534975518
|
0.00001
|
NM_183050.4(BCKDHB):c.192G>A (p.Glu64=)
|
rs1174539586
|
0.00001
|
NM_183050.4(BCKDHB):c.24C>T (p.Ala8=)
|
rs558448066
|
0.00001
|
NM_183050.4(BCKDHB):c.258C>T (p.Ala86=)
|
rs756064958
|
0.00001
|
NM_183050.4(BCKDHB):c.274+8T>G
|
rs144531503
|
0.00001
|
NM_183050.4(BCKDHB):c.344-9T>C
|
rs1479038293
|
0.00001
|
NM_183050.4(BCKDHB):c.393A>T (p.Gly131=)
|
rs934559515
|
0.00001
|
NM_183050.4(BCKDHB):c.402C>T (p.Ile134=)
|
rs759881863
|
0.00001
|
NM_183050.4(BCKDHB):c.43A>C (p.Arg15=)
|
rs781373417
|
0.00001
|
NM_183050.4(BCKDHB):c.478-9G>A
|
rs780452994
|
0.00001
|
NM_183050.4(BCKDHB):c.48G>T (p.Ala16=)
|
rs998893388
|
0.00001
|
NM_183050.4(BCKDHB):c.495C>T (p.Ala165=)
|
rs1174061592
|
0.00001
|
NM_183050.4(BCKDHB):c.522T>C (p.Leu174=)
|
rs1191860809
|
0.00001
|
NM_183050.4(BCKDHB):c.555T>C (p.Pro185=)
|
rs749123579
|
0.00001
|
NM_183050.4(BCKDHB):c.573T>C (p.His191=)
|
rs1280521091
|
0.00001
|
NM_183050.4(BCKDHB):c.615C>T (p.Ala205=)
|
rs760033819
|
0.00001
|
NM_183050.4(BCKDHB):c.636G>A (p.Val212=)
|
rs968957690
|
0.00001
|
NM_183050.4(BCKDHB):c.672T>G (p.Leu224=)
|
rs1488608145
|
0.00001
|
NM_183050.4(BCKDHB):c.676T>C (p.Leu226=)
|
rs1772903772
|
0.00001
|
NM_183050.4(BCKDHB):c.743-14T>C
|
rs747561308
|
0.00001
|
NM_183050.4(BCKDHB):c.841-9T>G
|
rs774698097
|
0.00001
|
NM_183050.4(BCKDHB):c.858G>A (p.Glu286=)
|
rs765019762
|
0.00001
|
NM_183050.4(BCKDHB):c.861A>G (p.Val287=)
|
rs1358699136
|
0.00001
|
NM_183050.4(BCKDHB):c.882G>A (p.Lys294=)
|
rs1354419202
|
0.00001
|
NM_183050.4(BCKDHB):c.90G>A (p.Gly30=)
|
rs553058134
|
0.00001
|
NM_183050.4(BCKDHB):c.9T>A (p.Val3=)
|
rs1373155112
|
0.00001
|
NM_183050.4(BCKDHB):c.*263C>A
|
rs533006469
|
|
NM_183050.4(BCKDHB):c.1002A>G (p.Thr334=)
|
rs2127965195
|
|
NM_183050.4(BCKDHB):c.1005C>A (p.Gly335=)
|
rs1562193967
|
|
NM_183050.4(BCKDHB):c.1014A>G (p.Ala338=)
|
rs904277226
|
|
NM_183050.4(BCKDHB):c.1029T>C (p.Ser343=)
|
|
|
NM_183050.4(BCKDHB):c.102C>T (p.Gly34=)
|
rs1294903760
|
|
NM_183050.4(BCKDHB):c.1032A>G (p.Thr344=)
|
rs148902222
|
|
NM_183050.4(BCKDHB):c.1038+20T>C
|
|
|
NM_183050.4(BCKDHB):c.1038+20T>G
|
|
|
NM_183050.4(BCKDHB):c.1038+8A>T
|
rs1777830129
|
|
NM_183050.4(BCKDHB):c.1039-13A>C
|
|
|
NM_183050.4(BCKDHB):c.1039-15T>C
|
|
|
NM_183050.4(BCKDHB):c.1039-17C>A
|
|
|
NM_183050.4(BCKDHB):c.1039-5T>C
|
rs879095937
|
|
NM_183050.4(BCKDHB):c.1041G>A (p.Glu347=)
|
rs2128020526
|
|
NM_183050.4(BCKDHB):c.1059A>G (p.Leu353=)
|
rs1770035632
|
|
NM_183050.4(BCKDHB):c.1062G>A (p.Glu354=)
|
|
|
NM_183050.4(BCKDHB):c.1068T>C (p.Pro356=)
|
rs1582600488
|
|
NM_183050.4(BCKDHB):c.1092C>T (p.Asp364=)
|
rs2128020582
|
|
NM_183050.4(BCKDHB):c.1095A>G (p.Thr365=)
|
rs2128020590
|
|
NM_183050.4(BCKDHB):c.1107C>T (p.His369=)
|
rs1582600540
|
|
NM_183050.4(BCKDHB):c.1119A>G (p.Pro373=)
|
|
|
NM_183050.4(BCKDHB):c.1128C>T (p.Ile376=)
|
rs1035866627
|
|
NM_183050.4(BCKDHB):c.1137A>G (p.Lys379=)
|
|
|
NM_183050.4(BCKDHB):c.1149T>C (p.Tyr383=)
|
|
|
NM_183050.4(BCKDHB):c.114C>T (p.Pro38=)
|
|
|
NM_183050.4(BCKDHB):c.117C>T (p.Ala39=)
|
rs767901122
|
|
NM_183050.4(BCKDHB):c.120G>A (p.Ala40=)
|
rs2127699065
|
|
NM_183050.4(BCKDHB):c.120G>T (p.Ala40=)
|
rs2127699065
|
|
NM_183050.4(BCKDHB):c.123T>G (p.Thr41=)
|
|
|
NM_183050.4(BCKDHB):c.126C>G (p.Val42=)
|
rs2127699088
|
|
NM_183050.4(BCKDHB):c.12A>G (p.Val4=)
|
rs2127698647
|
|
NM_183050.4(BCKDHB):c.135G>A (p.Ala45=)
|
rs777673541
|
|
NM_183050.4(BCKDHB):c.138C>T (p.Ala46=)
|
|
|
NM_183050.4(BCKDHB):c.141G>A (p.Gln47=)
|
|
|
NM_183050.4(BCKDHB):c.144_145delinsAA (p.Arg48_Arg49=)
|
rs2127699136
|
|
NM_183050.4(BCKDHB):c.145C>A (p.Arg49=)
|
|
|
NM_183050.4(BCKDHB):c.15G>A (p.Ala5=)
|
rs772066588
|
|
NM_183050.4(BCKDHB):c.15G>C (p.Ala5=)
|
rs772066588
|
|
NM_183050.4(BCKDHB):c.165T>G (p.Thr55=)
|
rs2127699201
|
|
NM_183050.4(BCKDHB):c.174A>G (p.Pro58=)
|
rs1769093743
|
|
NM_183050.4(BCKDHB):c.18G>A (p.Ala6=)
|
rs2127698696
|
|
NM_183050.4(BCKDHB):c.18G>C (p.Ala6=)
|
rs2127698696
|
|
NM_183050.4(BCKDHB):c.18G>T (p.Ala6=)
|
rs2127698696
|
|
NM_183050.4(BCKDHB):c.196+10G>A
|
rs2127699369
|
|
NM_183050.4(BCKDHB):c.196+10G>C
|
|
|
NM_183050.4(BCKDHB):c.196+11G>A
|
|
|
NM_183050.4(BCKDHB):c.196+13A>G
|
|
|
NM_183050.4(BCKDHB):c.196+20A>T
|
|
|
NM_183050.4(BCKDHB):c.196+7C>T
|
rs753090498
|
|
NM_183050.4(BCKDHB):c.196+8C>G
|
rs1337392511
|
|
NM_183050.4(BCKDHB):c.197-11G>A
|
|
|
NM_183050.4(BCKDHB):c.197-15_197-14insA
|
|
|
NM_183050.4(BCKDHB):c.197-5C>T
|
rs1374556799
|
|
NM_183050.4(BCKDHB):c.21T>A (p.Ala7=)
|
|
|
NM_183050.4(BCKDHB):c.228T>A (p.Ser76=)
|
rs761814478
|
|
NM_183050.4(BCKDHB):c.241T>C (p.Leu81=)
|
|
|
NM_183050.4(BCKDHB):c.24C>A (p.Ala8=)
|
rs558448066
|
|
NM_183050.4(BCKDHB):c.24C>G (p.Ala8=)
|
rs558448066
|
|
NM_183050.4(BCKDHB):c.253T>C (p.Leu85=)
|
rs780890874
|
|
NM_183050.4(BCKDHB):c.25G>A (p.Gly9Ser)
|
rs571728255
|
|
NM_183050.4(BCKDHB):c.267T>C (p.Pro89=)
|
rs1582191955
|
|
NM_183050.4(BCKDHB):c.267T>G (p.Pro89=)
|
|
|
NM_183050.4(BCKDHB):c.270T>C (p.Thr90=)
|
|
|
NM_183050.4(BCKDHB):c.274+10A>T
|
rs2127726226
|
|
NM_183050.4(BCKDHB):c.274+13T>C
|
|
|
NM_183050.4(BCKDHB):c.274+7C>T
|
rs771730316
|
|
NM_183050.4(BCKDHB):c.274+8T>C
|
|
|
NM_183050.4(BCKDHB):c.275-10T>C
|
rs2127727828
|
|
NM_183050.4(BCKDHB):c.275-12A>C
|
|
|
NM_183050.4(BCKDHB):c.275-16A>C
|
|
|
NM_183050.4(BCKDHB):c.275-17T>C
|
|
|
NM_183050.4(BCKDHB):c.275-20A>C
|
|
|
NM_183050.4(BCKDHB):c.275-20A>G
|
|
|
NM_183050.4(BCKDHB):c.275-5T>C
|
|
|
NM_183050.4(BCKDHB):c.275-8T>G
|
|
|
NM_183050.4(BCKDHB):c.275-9G>A
|
|
|
NM_183050.4(BCKDHB):c.27C>G (p.Gly9=)
|
rs1024423494
|
|
NM_183050.4(BCKDHB):c.285T>C (p.Gly95=)
|
rs2127727865
|
|
NM_183050.4(BCKDHB):c.312T>C (p.Phe104=)
|
rs745368116
|
|
NM_183050.4(BCKDHB):c.315A>G (p.Arg105=)
|
rs1770499965
|
|
NM_183050.4(BCKDHB):c.31C>T (p.Leu11=)
|
|
|
NM_183050.4(BCKDHB):c.321T>C (p.Thr107=)
|
|
|
NM_183050.4(BCKDHB):c.331C>A (p.Arg111=)
|
rs371117671
|
|
NM_183050.4(BCKDHB):c.333A>G (p.Arg111=)
|
rs1582194998
|
|
NM_183050.4(BCKDHB):c.336C>T (p.Asp112=)
|
|
|
NM_183050.4(BCKDHB):c.33A>C (p.Leu11=)
|
|
|
NM_183050.4(BCKDHB):c.33A>G (p.Leu11=)
|
|
|
NM_183050.4(BCKDHB):c.33A>T (p.Leu11=)
|
rs755140913
|
|
NM_183050.4(BCKDHB):c.343+16T>C
|
|
|
NM_183050.4(BCKDHB):c.343+17A>G
|
|
|
NM_183050.4(BCKDHB):c.344-19T>C
|
|
|
NM_183050.4(BCKDHB):c.344-4T>G
|
rs2127773306
|
|
NM_183050.4(BCKDHB):c.344-7T>C
|
rs1562102564
|
|
NM_183050.4(BCKDHB):c.360T>C (p.Phe120=)
|
rs770355362
|
|
NM_183050.4(BCKDHB):c.369A>G (p.Pro123=)
|
rs891015474
|
|
NM_183050.4(BCKDHB):c.370T>C (p.Leu124=)
|
rs2127773376
|
|
NM_183050.4(BCKDHB):c.372G>A (p.Leu124=)
|
|
|
NM_183050.4(BCKDHB):c.378A>G (p.Glu126=)
|
rs770996331
|
|
NM_183050.4(BCKDHB):c.39G>A (p.Arg13=)
|
|
|
NM_183050.4(BCKDHB):c.420A>C (p.Gly140=)
|
|
|
NM_183050.4(BCKDHB):c.426T>C (p.Thr142=)
|
|
|
NM_183050.4(BCKDHB):c.426T>G (p.Thr142=)
|
|
|
NM_183050.4(BCKDHB):c.429C>A (p.Ala143=)
|
rs1582272242
|
|
NM_183050.4(BCKDHB):c.429C>T (p.Ala143=)
|
rs1582272242
|
|
NM_183050.4(BCKDHB):c.42C>T (p.Leu14=)
|
rs2127698794
|
|
NM_183050.4(BCKDHB):c.432T>C (p.Ile144=)
|
rs2127773487
|
|
NM_183050.4(BCKDHB):c.435G>T (p.Ala145=)
|
rs370267903
|
|
NM_183050.4(BCKDHB):c.468A>C (p.Ala156=)
|
|
|
NM_183050.4(BCKDHB):c.468A>G (p.Ala156=)
|
|
|
NM_183050.4(BCKDHB):c.474T>C (p.Asp158=)
|
rs2127773553
|
|
NM_183050.4(BCKDHB):c.477+10T>A
|
|
|
NM_183050.4(BCKDHB):c.477+13A>G
|
|
|
NM_183050.4(BCKDHB):c.477+14C>A
|
|
|
NM_183050.4(BCKDHB):c.477+15_477+16insAA
|
|
|
NM_183050.4(BCKDHB):c.477+19C>G
|
|
|
NM_183050.4(BCKDHB):c.477+20T>G
|
|
|
NM_183050.4(BCKDHB):c.477+7G>A
|
rs2127773561
|
|
NM_183050.4(BCKDHB):c.478-11C>G
|
|
|
NM_183050.4(BCKDHB):c.478-13_478-10del
|
|
|
NM_183050.4(BCKDHB):c.478-15C>G
|
|
|
NM_183050.4(BCKDHB):c.478-15C>T
|
rs772227275
|
|
NM_183050.4(BCKDHB):c.478-16T>G
|
|
|
NM_183050.4(BCKDHB):c.478-17T>C
|
|
|
NM_183050.4(BCKDHB):c.478-19C>G
|
|
|
NM_183050.4(BCKDHB):c.478-4T>G
|
|
|
NM_183050.4(BCKDHB):c.478-6C>T
|
rs879247086
|
|
NM_183050.4(BCKDHB):c.483T>C (p.Val161=)
|
rs2127775341
|
|
NM_183050.4(BCKDHB):c.48G>A (p.Ala16=)
|
|
|
NM_183050.4(BCKDHB):c.48G>C (p.Ala16=)
|
rs998893388
|
|
NM_183050.4(BCKDHB):c.498G>A (p.Lys166=)
|
|
|
NM_183050.4(BCKDHB):c.501T>C (p.Tyr167=)
|
|
|
NM_183050.4(BCKDHB):c.504C>T (p.Arg168=)
|
rs770906360
|
|
NM_183050.4(BCKDHB):c.507T>C (p.Tyr169=)
|
rs2127775476
|
|
NM_183050.4(BCKDHB):c.510C>T (p.Arg170=)
|
|
|
NM_183050.4(BCKDHB):c.516G>A (p.Gly172=)
|
rs2127775531
|
|
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)
|
rs376293687
|
|
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)
|
rs376293687
|
|
NM_183050.4(BCKDHB):c.525T>C (p.Phe175=)
|
rs2127775566
|
|
NM_183050.4(BCKDHB):c.534A>G (p.Gly178=)
|
rs1582275612
|
|
NM_183050.4(BCKDHB):c.537C>T (p.Ser179=)
|
rs1260482947
|
|
NM_183050.4(BCKDHB):c.540C>T (p.Leu180=)
|
|
|
NM_183050.4(BCKDHB):c.546C>T (p.Ile182=)
|
|
|
NM_183050.4(BCKDHB):c.549G>C (p.Arg183=)
|
|
|
NM_183050.4(BCKDHB):c.549G>T (p.Arg183=)
|
|
|
NM_183050.4(BCKDHB):c.552C>T (p.Ser184=)
|
|
|
NM_183050.4(BCKDHB):c.555T>A (p.Pro185=)
|
rs749123579
|
|
NM_183050.4(BCKDHB):c.561C>T (p.Gly187=)
|
|
|
NM_183050.4(BCKDHB):c.576G>A (p.Gly192=)
|
rs2127775867
|
|
NM_183050.4(BCKDHB):c.582C>G (p.Leu194=)
|
rs1772747208
|
|
NM_183050.4(BCKDHB):c.591T>A (p.Ser197=)
|
|
|
NM_183050.4(BCKDHB):c.600T>G (p.Pro200=)
|
rs1031182895
|
|
NM_183050.4(BCKDHB):c.633+14T>C
|
|
|
NM_183050.4(BCKDHB):c.633+15G>A
|
|
|
NM_183050.4(BCKDHB):c.634-10G>A
|
rs2127779093
|
|
NM_183050.4(BCKDHB):c.634-12C>A
|
|
|
NM_183050.4(BCKDHB):c.634-13T>C
|
|
|
NM_183050.4(BCKDHB):c.634-16A>C
|
|
|
NM_183050.4(BCKDHB):c.634-20A>T
|
|
|
NM_183050.4(BCKDHB):c.634-4G>C
|
|
|
NM_183050.4(BCKDHB):c.634-6T>C
|
rs1332095038
|
|
NM_183050.4(BCKDHB):c.63G>C (p.Gly21=)
|
rs368345065
|
|
NM_183050.4(BCKDHB):c.645C>T (p.Pro215=)
|
|
|
NM_183050.4(BCKDHB):c.651C>T (p.Ser217=)
|
rs1220450249
|
|
NM_183050.4(BCKDHB):c.657C>T (p.Phe219=)
|
rs2127779150
|
|
NM_183050.4(BCKDHB):c.678G>A (p.Leu226=)
|
rs2127779199
|
|
NM_183050.4(BCKDHB):c.681A>G (p.Ser227=)
|
|
|
NM_183050.4(BCKDHB):c.699T>C (p.Asn233=)
|
|
|
NM_183050.4(BCKDHB):c.6G>A (p.Ala2=)
|
rs2127698622
|
|
NM_183050.4(BCKDHB):c.6G>T (p.Ala2=)
|
rs2127698622
|
|
NM_183050.4(BCKDHB):c.702T>C (p.Pro234=)
|
|
|
NM_183050.4(BCKDHB):c.702T>G (p.Pro234=)
|
|
|
NM_183050.4(BCKDHB):c.705T>C (p.Cys235=)
|
|
|
NM_183050.4(BCKDHB):c.708A>C (p.Ile236=)
|
|
|
NM_183050.4(BCKDHB):c.72T>G (p.Arg24=)
|
rs2127698878
|
|
NM_183050.4(BCKDHB):c.742+12C>A
|
|
|
NM_183050.4(BCKDHB):c.742+17T>G
|
|
|
NM_183050.4(BCKDHB):c.742+18T>G
|
|
|
NM_183050.4(BCKDHB):c.742+8T>C
|
|
|
NM_183050.4(BCKDHB):c.742+9T>G
|
rs2127779389
|
|
NM_183050.4(BCKDHB):c.743-12T>C
|
|
|
NM_183050.4(BCKDHB):c.743-15C>G
|
|
|
NM_183050.4(BCKDHB):c.743-15C>T
|
|
|
NM_183050.4(BCKDHB):c.743-15del
|
rs749321740
|
|
NM_183050.4(BCKDHB):c.743-17T>A
|
|
|
NM_183050.4(BCKDHB):c.743-18T>C
|
|
|
NM_183050.4(BCKDHB):c.743-19T>A
|
|
|
NM_183050.4(BCKDHB):c.743-19T>C
|
|
|
NM_183050.4(BCKDHB):c.743-20T>C
|
|
|
NM_183050.4(BCKDHB):c.743-6A>G
|
rs759281718
|
|
NM_183050.4(BCKDHB):c.743-8G>A
|
rs765391530
|
|
NM_183050.4(BCKDHB):c.743-8G>C
|
rs765391530
|
|
NM_183050.4(BCKDHB):c.743-9T>G
|
|
|
NM_183050.4(BCKDHB):c.747A>G (p.Glu249=)
|
rs764125560
|
|
NM_183050.4(BCKDHB):c.753C>A (p.Val251=)
|
rs1582341919
|
|
NM_183050.4(BCKDHB):c.756T>C (p.Pro252=)
|
|
|
NM_183050.4(BCKDHB):c.765A>T (p.Pro255=)
|
rs2127823220
|
|
NM_183050.4(BCKDHB):c.768C>T (p.Tyr256=)
|
rs781723847
|
|
NM_183050.4(BCKDHB):c.771C>T (p.Asn257=)
|
rs2127823243
|
|
NM_183050.4(BCKDHB):c.774C>T (p.Ile258=)
|
rs2127823256
|
|
NM_183050.4(BCKDHB):c.777A>G (p.Pro259=)
|
|
|
NM_183050.4(BCKDHB):c.778C>T (p.Leu260=)
|
rs2127823271
|
|
NM_183050.4(BCKDHB):c.780G>A (p.Leu260=)
|
|
|
NM_183050.4(BCKDHB):c.780G>C (p.Leu260=)
|
|
|
NM_183050.4(BCKDHB):c.804A>G (p.Glu268=)
|
rs769220378
|
|
NM_183050.4(BCKDHB):c.813T>C (p.Asp271=)
|
|
|
NM_183050.4(BCKDHB):c.81T>C (p.Pro27=)
|
|
|
NM_183050.4(BCKDHB):c.828C>T (p.Ala276=)
|
|
|
NM_183050.4(BCKDHB):c.834C>T (p.Gly278=)
|
|
|
NM_183050.4(BCKDHB):c.840+12T>G
|
|
|
NM_183050.4(BCKDHB):c.840+15dup
|
|
|
NM_183050.4(BCKDHB):c.840+20A>G
|
|
|
NM_183050.4(BCKDHB):c.840+8G>A
|
|
|
NM_183050.4(BCKDHB):c.84C>A (p.Gly28=)
|
|
|
NM_183050.4(BCKDHB):c.84C>G (p.Gly28=)
|
rs776261412
|
|
NM_183050.4(BCKDHB):c.861A>C (p.Val287=)
|
rs1358699136
|
|
NM_183050.4(BCKDHB):c.861A>T (p.Val287=)
|
rs1358699136
|
|
NM_183050.4(BCKDHB):c.900A>G (p.Glu300=)
|
rs2127826950
|
|
NM_183050.4(BCKDHB):c.903C>T (p.Val301=)
|
|
|
NM_183050.4(BCKDHB):c.915G>A (p.Arg305=)
|
|
|
NM_183050.4(BCKDHB):c.939C>T (p.Asp313=)
|
rs2127827076
|
|
NM_183050.4(BCKDHB):c.951+10T>C
|
|
|
NM_183050.4(BCKDHB):c.951+11A>C
|
|
|
NM_183050.4(BCKDHB):c.951+27209A>G
|
rs207467187
|
|
NM_183050.4(BCKDHB):c.951+7A>C
|
rs2127827133
|
|
NM_183050.4(BCKDHB):c.951+8T>A
|
rs749433792
|
|
NM_183050.4(BCKDHB):c.951+9A>C
|
rs374054207
|
|
NM_183050.4(BCKDHB):c.951+9A>G
|
rs374054207
|
|
NM_183050.4(BCKDHB):c.952-13T>C
|
|
|
NM_183050.4(BCKDHB):c.952-14C>G
|
rs1777820973
|
|
NM_183050.4(BCKDHB):c.952-14C>T
|
|
|
NM_183050.4(BCKDHB):c.952-16_952-15del
|
rs890103324
|
|
NM_183050.4(BCKDHB):c.952-5T>G
|
|
|
NM_183050.4(BCKDHB):c.969G>A (p.Gly323=)
|
|
|
NM_183050.4(BCKDHB):c.969G>C (p.Gly323=)
|
rs764707388
|
|
NM_183050.4(BCKDHB):c.96G>A (p.Ala32=)
|
rs1769084493
|
|
NM_183050.4(BCKDHB):c.96G>C (p.Ala32=)
|
|
|
NM_183050.4(BCKDHB):c.970C>A (p.Arg324=)
|
|
|
NM_183050.4(BCKDHB):c.975G>T (p.Leu325=)
|
|
|
NM_183050.4(BCKDHB):c.976C>T (p.Leu326=)
|
rs2127965109
|
|
NM_183050.4(BCKDHB):c.996C>G (p.Pro332=)
|
|
|
NM_183050.4(BCKDHB):c.996C>T (p.Pro332=)
|
|
|
NM_183050.4(BCKDHB):c.99G>A (p.Arg33=)
|
|
|