NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)
|
rs398123508
|
0.00009
|
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)
|
rs376456598
|
0.00003
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)
|
rs398123499
|
0.00003
|
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)
|
rs200137189
|
0.00003
|
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)
|
rs942815730
|
0.00002
|
NM_000709.4(BCKDHA):c.288+1G>A
|
rs398123496
|
0.00002
|
NM_000709.4(BCKDHA):c.565C>T (p.Arg189Cys)
|
rs886042356
|
0.00002
|
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)
|
rs375785084
|
0.00002
|
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)
|
rs145901144
|
0.00002
|
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)
|
rs182923857
|
0.00001
|
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)
|
rs398123486
|
0.00001
|
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)
|
rs1214763792
|
0.00001
|
NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter)
|
rs762199542
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)
|
rs374625613
|
0.00001
|
NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter)
|
rs1220443382
|
0.00001
|
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)
|
rs769688327
|
0.00001
|
NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln)
|
rs773048903
|
0.00001
|
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)
|
rs398123503
|
0.00001
|
NM_000709.4(BCKDHA):c.647-1G>C
|
rs753216964
|
0.00001
|
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)
|
rs369448982
|
0.00001
|
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)
|
rs137852874
|
0.00001
|
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)
|
rs199599175
|
0.00001
|
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)
|
rs137852873
|
0.00001
|
NM_000709.4(BCKDHA):c.854-2A>G
|
rs760494152
|
0.00001
|
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)
|
rs137852871
|
0.00001
|
NM_000709.4(BCKDHA):c.884C>A (p.Ser295Ter)
|
rs1318419473
|
0.00001
|
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)
|
rs137852875
|
0.00001
|
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)
|
rs753698250
|
0.00001
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
NC_000019.10:g.(?_41397818)_(41414167_?)del
|
|
|
NC_000019.10:g.(?_41424428)_(41424831_?)del
|
|
|
NC_000019.9:g.(?_41903723)_(41903850_?)del
|
|
|
NC_000019.9:g.(?_41903723)_(41916924_?)del
|
|
|
NC_000019.9:g.(?_41903723)_(41930736_?)del
|
|
|
NC_000019.9:g.(?_41916532)_(41920072_?)del
|
|
|
NC_000019.9:g.(?_41925030)_(41930736_?)del
|
|
|
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)
|
rs1330793674
|
|
NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter)
|
rs774735002
|
|
NM_000709.4(BCKDHA):c.109-1G>A
|
rs2123253583
|
|
NM_000709.4(BCKDHA):c.1110_1119del (p.Gln371fs)
|
rs1599962569
|
|
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)
|
rs765543886
|
|
NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter)
|
|
|
NM_000709.4(BCKDHA):c.1137del (p.Lys380fs)
|
|
|
NM_000709.4(BCKDHA):c.1167+1del
|
rs1555767169
|
|
NM_000709.4(BCKDHA):c.1168-2A>G
|
rs1555767285
|
|
NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.117del (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter)
|
rs863225262
|
|
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys)
|
rs137852872
|
|
NM_000709.4(BCKDHA):c.1237dup (p.Tyr413fs)
|
|
|
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)
|
rs755691417
|
|
NM_000709.4(BCKDHA):c.12_13insGACGGGCGAGGTGGCTCACGCCTGAAATCCCAGCACTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATGGCGGTAGCG (p.Ile5fs)
|
|
|
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)
|
rs1298823471
|
|
NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs)
|
rs398123492
|
|
NM_000709.4(BCKDHA):c.143del (p.Leu48fs)
|
rs1555765593
|
|
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)
|
rs398123494
|
|
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
|
|
|
NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter)
|
|
|
NM_000709.4(BCKDHA):c.318C>G (p.Tyr106Ter)
|
|
|
NM_000709.4(BCKDHA):c.319A>T (p.Lys107Ter)
|
|
|
NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro)
|
rs1568503938
|
|
NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter)
|
rs1207966026
|
|
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)
|
rs398123498
|
|
NM_000709.4(BCKDHA):c.357_358del (p.Leu119_Tyr120insTer)
|
rs2123254646
|
|
NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter)
|
rs2039247540
|
|
NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)
|
|
|
NM_000709.4(BCKDHA):c.399delinsAA (p.Asn134fs)
|
rs1057519059
|
|
NM_000709.4(BCKDHA):c.402del (p.Tyr135fs)
|
|
|
NM_000709.4(BCKDHA):c.410_426dup (p.Gly143fs)
|
|
|
NM_000709.4(BCKDHA):c.416del (p.Gly139fs)
|
|
|
NM_000709.4(BCKDHA):c.41del (p.Asn14fs)
|
|
|
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)
|
rs2122122610
|
|
NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro)
|
rs869312125
|
|
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
|
|
|
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)
|
rs762084007
|
|
NM_000709.4(BCKDHA):c.529C>T (p.Gln177Ter)
|
|
|
NM_000709.4(BCKDHA):c.554del (p.Leu185fs)
|
rs1568506608
|
|
NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)
|
|
|
NM_000709.4(BCKDHA):c.644_645del (p.Gln215fs)
|
|
|
NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala)
|
rs2039372961
|
|
NM_000709.4(BCKDHA):c.659del (p.Ala220fs)
|
|
|
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)
|
rs796051938
|
|
NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer)
|
rs2122142757
|
|
NM_000709.4(BCKDHA):c.67del (p.Leu23fs)
|
|
|
NM_000709.4(BCKDHA):c.699_700del (p.Ile233fs)
|
|
|
NM_000709.4(BCKDHA):c.701_702del (p.Cys234fs)
|
rs2122142979
|
|
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)
|
rs1303770209
|
|
NM_000709.4(BCKDHA):c.718del (p.Ala240fs)
|
rs1555766993
|
|
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg)
|
rs1468416468
|
|
NM_000709.4(BCKDHA):c.741dup (p.Ala248fs)
|
rs398123504
|
|
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)
|
rs373713279
|
|
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter)
|
rs2122143379
|
|
NM_000709.4(BCKDHA):c.776C>T (p.Pro259Leu)
|
rs2122143393
|
|
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)
|
rs398123505
|
|
NM_000709.4(BCKDHA):c.78del (p.Gln27fs)
|
rs2123232769
|
|
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp)
|
rs137852876
|
|
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)
|
rs761996996
|
|
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)
|
rs761996996
|
|
NM_000709.4(BCKDHA):c.796_797delinsT (p.Asn266fs)
|
|
|
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)
|
|
|
NM_000709.4(BCKDHA):c.844G>C (p.Asp282His)
|
rs869312124
|
|
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter)
|
rs764247545
|
|
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)
|
rs794727847
|
|
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)
|
rs398123509
|
|
NM_000709.4(BCKDHA):c.909_910del (p.Phe304fs)
|
rs398123510
|
|
NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter)
|
rs398123513
|
|