NM_183050.4(BCKDHB):c.*2212T>C
|
rs191556844
|
0.00257
|
NM_183050.4(BCKDHB):c.*1603G>A
|
rs143744799
|
0.00057
|
NM_183050.4(BCKDHB):c.*1554C>G
|
rs563993638
|
0.00054
|
NM_183050.4(BCKDHB):c.*1010A>G
|
rs536048070
|
0.00044
|
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)
|
rs147719822
|
0.00026
|
NM_183050.4(BCKDHB):c.*574A>G
|
rs527284649
|
0.00023
|
NM_183050.4(BCKDHB):c.*1315G>A
|
rs760136719
|
0.00020
|
NM_183050.4(BCKDHB):c.*921C>T
|
rs542630714
|
0.00020
|
NM_183050.4(BCKDHB):c.*466G>T
|
rs886061809
|
0.00009
|
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.*2224T>A
|
rs1037438345
|
0.00007
|
NM_183050.4(BCKDHB):c.*1908A>G
|
rs368380717
|
0.00006
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
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_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_183050.3(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.*501A>G
|
rs1770079109
|
|
NM_183050.4(BCKDHB):c.*540T>C
|
rs201154827
|
|
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
|
|