NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile)
|
rs35470366
|
0.00394
|
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)
|
rs143427811
|
0.00086
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)
|
rs142858149
|
0.00039
|
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.853C>T (p.Arg285Ter)
|
rs398124598
|
0.00015
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_183050.4(BCKDHB):c.1168A>G (p.Ile390Val)
|
rs753690047
|
0.00005
|
NM_183050.4(BCKDHB):c.434C>T (p.Ala145Val)
|
rs574122134
|
0.00004
|
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe)
|
rs398124591
|
0.00004
|
NM_183050.4(BCKDHB):c.5C>T (p.Ala2Val)
|
rs769876670
|
0.00003
|
NM_183050.4(BCKDHB):c.239C>G (p.Ala80Gly)
|
rs371131253
|
0.00002
|
NM_183050.4(BCKDHB):c.268A>G (p.Thr90Ala)
|
rs894467213
|
0.00002
|
NM_183050.4(BCKDHB):c.36C>T (p.Leu12=)
|
rs1464497822
|
0.00002
|
NM_183050.4(BCKDHB):c.79C>T (p.Pro27Ser)
|
rs955755199
|
0.00002
|
NM_183050.4(BCKDHB):c.92T>C (p.Leu31Pro)
|
rs763434607
|
0.00002
|
NM_183050.4(BCKDHB):c.1025G>C (p.Ser342Thr)
|
rs759040971
|
0.00001
|
NM_183050.4(BCKDHB):c.1038+2T>C
|
rs762419044
|
0.00001
|
NM_183050.4(BCKDHB):c.1132G>A (p.Asp378Asn)
|
rs970365846
|
0.00001
|
NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val)
|
rs752892659
|
0.00001
|
NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val)
|
rs534975518
|
0.00001
|
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)
|
rs1005542482
|
0.00001
|
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly)
|
rs150769284
|
0.00001
|
NM_183050.4(BCKDHB):c.24C>T (p.Ala8=)
|
rs558448066
|
0.00001
|
NM_183050.4(BCKDHB):c.263A>T (p.Asp88Val)
|
rs374253889
|
0.00001
|
NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile)
|
rs398124575
|
0.00001
|
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)
|
rs776631396
|
0.00001
|
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys)
|
rs398124580
|
0.00001
|
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr)
|
rs398124582
|
0.00001
|
NM_183050.4(BCKDHB):c.564T>A (p.Cys188Ter)
|
rs774306610
|
0.00001
|
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)
|
rs398124593
|
0.00001
|
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)
|
rs398124594
|
0.00001
|
NM_183050.4(BCKDHB):c.858G>A (p.Glu286=)
|
rs765019762
|
0.00001
|
NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe)
|
rs762438504
|
0.00001
|
NM_183050.4(BCKDHB):c.895T>A (p.Cys299Ser)
|
rs370331553
|
0.00001
|
NM_183050.4(BCKDHB):c.90G>A (p.Gly30=)
|
rs553058134
|
0.00001
|
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)
|
rs398124603
|
0.00001
|
BCKDHB, 8-BP INS, NT1109
|
|
|
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)
|
rs398124560
|
|
NM_183050.4(BCKDHB):c.1039-10C>G
|
rs760262704
|
|
NM_183050.4(BCKDHB):c.1039-7_1039-4del
|
rs1562242135
|
|
NM_183050.4(BCKDHB):c.1042G>A (p.Glu348Lys)
|
rs989873156
|
|
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)
|
rs398124562
|
|
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs)
|
rs869312129
|
|
NM_183050.4(BCKDHB):c.10G>A (p.Val4Ile)
|
rs774255890
|
|
NM_183050.4(BCKDHB):c.1119del (p.Phe374fs)
|
rs797045411
|
|
NM_183050.4(BCKDHB):c.197-12dup
|
rs201800966
|
|
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)
|
rs1005542482
|
|
NM_183050.4(BCKDHB):c.25G>A (p.Gly9Ser)
|
rs571728255
|
|
NM_183050.4(BCKDHB):c.274+5C>T
|
rs1770414545
|
|
NM_183050.4(BCKDHB):c.315A>G (p.Arg105=)
|
rs1770499965
|
|
NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter)
|
rs371117671
|
|
NM_183050.4(BCKDHB):c.33A>T (p.Leu11=)
|
rs755140913
|
|
NM_183050.4(BCKDHB):c.348del (p.Asp117fs)
|
rs1400121541
|
|
NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly)
|
rs121965005
|
|
NM_183050.4(BCKDHB):c.36C>G (p.Leu12=)
|
rs1464497822
|
|
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)
|
rs751953459
|
|
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter)
|
rs1057516799
|
|
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)
|
rs749033513
|
|
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.547C>T (p.Arg183Trp)
|
rs149766077
|
|
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)
|
rs398124587
|
|
NM_183050.4(BCKDHB):c.616C>T (p.His206Tyr)
|
rs121965004
|
|
NM_183050.4(BCKDHB):c.633+1G>T
|
rs398124589
|
|
NM_183050.4(BCKDHB):c.77T>C (p.Leu26Pro)
|
rs1769081318
|
|
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs)
|
rs398124601
|
|
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)
|
rs398124601
|
|
NM_183050.4(BCKDHB):c.951+4T>C
|
rs778135997
|
|