NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe)
|
rs398124591
|
0.00004
|
NM_000709.4(BCKDHA):c.500G>A (p.Arg167Gln)
|
rs377517768
|
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.889C>T (p.Arg297Cys)
|
rs145901144
|
0.00002
|
NM_001918.5(DBT):c.401C>T (p.Pro134Leu)
|
rs1131691488
|
0.00002
|
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)
|
rs398123486
|
0.00001
|
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)
|
rs769688327
|
0.00001
|
NM_001918.5(DBT):c.*358A>C
|
rs1553228540
|
0.00001
|
NM_001918.5(DBT):c.1017G>A (p.Lys339=)
|
rs1490661508
|
0.00001
|
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)
|
rs1449113689
|
0.00001
|
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter)
|
rs767760099
|
0.00001
|
NM_001918.5(DBT):c.61C>T (p.Arg21Cys)
|
rs398123673
|
0.00001
|
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)
|
rs1304667430
|
0.00001
|
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)
|
rs751599203
|
0.00001
|
NM_000709.3(BCKDHA):c.111_122del12
|
rs751877248
|
|
NM_000709.4(BCKDHA):c.*223T>A
|
rs373164531
|
|
NM_000709.4(BCKDHA):c.121CAG[5] (p.Gln44dup)
|
rs756657259
|
|
NM_000709.4(BCKDHA):c.1267CAG[1] (p.Gln424del)
|
rs1555767305
|
|
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)
|
rs755691417
|
|
NM_000709.4(BCKDHA):c.562G>T (p.Gly188Trp)
|
rs1555766625
|
|
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)
|
rs761996996
|
|
NM_000709.4(BCKDHA):c.892G>A (p.Val298Met)
|
rs1253348004
|
|
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)
|
rs768389398
|
|
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)
|
rs1553229654
|
|
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)
|
rs749366506
|
|
NM_001918.5(DBT):c.1348G>A (p.Ala450Thr)
|
rs398123661
|
|
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)
|
rs1553228626
|
|
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del)
|
rs771945254
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
NM_001918.5(DBT):c.438AGA[2] (p.Glu148del)
|
rs761922057
|
|
NM_001918.5(DBT):c.449TTG[1] (p.Val151del)
|
rs773087765
|
|
NM_001918.5(DBT):c.788T>C (p.Met263Thr)
|
rs1553230703
|
|
NM_001918.5(DBT):c.82_84dup (p.Asn28dup)
|
rs746916491
|
|
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)
|
rs775808731
|
|
NM_183050.4(BCKDHB):c.*13G>A
|
rs398124559
|
|
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)
|
rs398124562
|
|
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly)
|
rs869312126
|
|
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)
|
rs398124575
|
|
NM_183050.4(BCKDHB):c.517G>T (p.Asp173Tyr)
|
rs1554189815
|
|
NM_183050.4(BCKDHB):c.599C>T (p.Pro200Leu)
|
rs1554189861
|
|
NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe)
|
rs994415333
|
|
NM_183050.4(BCKDHB):c.8_19dup (p.Val3_Ala6dup)
|
rs1554180793
|
|
NM_183050.4(BCKDHB):c.931G>C (p.Asp311His)
|
rs1246984003
|
|
NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg)
|
rs398124604
|
|
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)
|
rs1554205541
|
|