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.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.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)
|
rs374625613
|
0.00001
|
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)
|
rs398123503
|
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.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)
|
rs1330793674
|
|
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)
|
rs765543886
|
|
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.1198A>T (p.Lys400Ter)
|
rs863225262
|
|
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys)
|
rs137852872
|
|
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)
|
rs755691417
|
|
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)
|
rs1298823471
|
|
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)
|
rs398123494
|
|
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
|
|
|
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)
|
rs398123498
|
|
NM_000709.4(BCKDHA):c.410_426dup (p.Gly143fs)
|
|
|
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)
|
rs2122122610
|
|
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
|
|
|
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)
|
rs762084007
|
|
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.712G>T (p.Glu238Ter)
|
rs1303770209
|
|
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg)
|
rs1468416468
|
|
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.794G>A (p.Arg265Gln)
|
rs761996996
|
|
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)
|
|
|