NM_183050.4(BCKDHB):c.434C>T (p.Ala145Val)
|
rs574122134
|
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.449C>T (p.Ala150Val)
|
rs867033248
|
0.00002
|
NM_183050.4(BCKDHB):c.92T>C (p.Leu31Pro)
|
rs763434607
|
0.00002
|
NM_183050.4(BCKDHB):c.1031C>T (p.Thr344Ile)
|
rs761138547
|
0.00001
|
NM_183050.4(BCKDHB):c.1057C>G (p.Leu353Val)
|
rs398124563
|
0.00001
|
NM_183050.4(BCKDHB):c.1132G>A (p.Asp378Asn)
|
rs970365846
|
0.00001
|
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr)
|
rs914935376
|
0.00001
|
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly)
|
rs150769284
|
0.00001
|
NM_183050.4(BCKDHB):c.263A>T (p.Asp88Val)
|
rs374253889
|
0.00001
|
NM_183050.4(BCKDHB):c.26G>C (p.Gly9Ala)
|
rs780722473
|
0.00001
|
NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile)
|
rs398124575
|
0.00001
|
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)
|
rs398124576
|
0.00001
|
NM_183050.4(BCKDHB):c.587A>T (p.His196Leu)
|
rs398124585
|
0.00001
|
NM_183050.4(BCKDHB):c.854G>A (p.Arg285Gln)
|
rs761827220
|
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
|
NC_000006.11:g.(?_80877375)_(80881127_?)dup
|
|
|
NM_183050.4(BCKDHB):c.100G>A (p.Gly34Ser)
|
|
|
NM_183050.4(BCKDHB):c.1038+5A>T
|
|
|
NM_183050.4(BCKDHB):c.1039-10C>G
|
rs760262704
|
|
NM_183050.4(BCKDHB):c.1039-10_1039-9del
|
|
|
NM_183050.4(BCKDHB):c.1039-9dup
|
rs2128020517
|
|
NM_183050.4(BCKDHB):c.1042G>A (p.Glu348Lys)
|
rs989873156
|
|
NM_183050.4(BCKDHB):c.1070T>C (p.Ile357Thr)
|
rs2128020569
|
|
NM_183050.4(BCKDHB):c.1097C>T (p.Pro366Leu)
|
rs1770038350
|
|
NM_183050.4(BCKDHB):c.10G>A (p.Val4Ile)
|
rs774255890
|
|
NM_183050.4(BCKDHB):c.1115A>T (p.Glu372Val)
|
rs1554216344
|
|
NM_183050.4(BCKDHB):c.1130C>T (p.Pro377Leu)
|
rs1554216354
|
|
NM_183050.4(BCKDHB):c.1133A>G (p.Asp378Gly)
|
rs1185514016
|
|
NM_183050.4(BCKDHB):c.1162A>G (p.Lys388Glu)
|
|
|
NM_183050.4(BCKDHB):c.1175A>G (p.Tyr392Cys)
|
|
|
NM_183050.4(BCKDHB):c.131A>G (p.Asp44Gly)
|
rs2127699100
|
|
NM_183050.4(BCKDHB):c.171G>C (p.Gln57His)
|
rs773031829
|
|
NM_183050.4(BCKDHB):c.173C>G (p.Pro58Arg)
|
|
|
NM_183050.4(BCKDHB):c.196+5G>A
|
rs398124568
|
|
NM_183050.4(BCKDHB):c.19G>A (p.Ala7Thr)
|
|
|
NM_183050.4(BCKDHB):c.200A>G (p.Gln67Arg)
|
rs2127726102
|
|
NM_183050.4(BCKDHB):c.203C>T (p.Thr68Ile)
|
|
|
NM_183050.4(BCKDHB):c.238G>A (p.Ala80Thr)
|
|
|
NM_183050.4(BCKDHB):c.23C>G (p.Ala8Gly)
|
|
|
NM_183050.4(BCKDHB):c.274+5C>T
|
rs1770414545
|
|
NM_183050.4(BCKDHB):c.301G>A (p.Gly101Ser)
|
rs1770499193
|
|
NM_183050.4(BCKDHB):c.320C>G (p.Thr107Ser)
|
|
|
NM_183050.4(BCKDHB):c.338A>G (p.Lys113Arg)
|
rs770263755
|
|
NM_183050.4(BCKDHB):c.343+2dup
|
|
|
NM_183050.4(BCKDHB):c.349G>A (p.Asp117Asn)
|
|
|
NM_183050.4(BCKDHB):c.367C>T (p.Pro123Ser)
|
|
|
NM_183050.4(BCKDHB):c.37A>G (p.Arg13Gly)
|
|
|
NM_183050.4(BCKDHB):c.389T>C (p.Val130Ala)
|
|
|
NM_183050.4(BCKDHB):c.398G>A (p.Gly133Glu)
|
rs1772648897
|
|
NM_183050.4(BCKDHB):c.444G>C (p.Gln148His)
|
rs2127773506
|
|
NM_183050.4(BCKDHB):c.454T>G (p.Tyr152Asp)
|
rs2127773518
|
|
NM_183050.4(BCKDHB):c.464_465delinsGG (p.Pro155Arg)
|
rs2127773530
|
|
NM_183050.4(BCKDHB):c.47C>A (p.Ala16Glu)
|
rs537680296
|
|
NM_183050.4(BCKDHB):c.497A>T (p.Lys166Met)
|
|
|
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro)
|
rs371518124
|
|
NM_183050.4(BCKDHB):c.569G>C (p.Gly190Ala)
|
|
|
NM_183050.4(BCKDHB):c.56C>T (p.Ala19Val)
|
|
|
NM_183050.4(BCKDHB):c.604G>A (p.Ala202Thr)
|
|
|
NM_183050.4(BCKDHB):c.617A>C (p.His206Pro)
|
rs1562104694
|
|
NM_183050.4(BCKDHB):c.673C>G (p.Leu225Val)
|
|
|
NM_183050.4(BCKDHB):c.686T>C (p.Ile229Thr)
|
|
|
NM_183050.4(BCKDHB):c.726A>G (p.Ile242Met)
|
|
|
NM_183050.4(BCKDHB):c.757A>C (p.Ile253Leu)
|
|
|
NM_183050.4(BCKDHB):c.772A>T (p.Ile258Phe)
|
|
|
NM_183050.4(BCKDHB):c.77T>C (p.Leu26Pro)
|
rs1769081318
|
|
NM_183050.4(BCKDHB):c.790G>A (p.Glu264Lys)
|
|
|
NM_183050.4(BCKDHB):c.794T>C (p.Val265Ala)
|
|
|
NM_183050.4(BCKDHB):c.796A>G (p.Ile266Val)
|
|
|
NM_183050.4(BCKDHB):c.812A>C (p.Asp271Ala)
|
rs2127823416
|
|
NM_183050.4(BCKDHB):c.821T>C (p.Leu274Pro)
|
rs1582342243
|
|
NM_183050.4(BCKDHB):c.827C>G (p.Ala276Gly)
|
rs1774369297
|
|
NM_183050.4(BCKDHB):c.835A>G (p.Thr279Ala)
|
rs775427993
|
|
NM_183050.4(BCKDHB):c.862G>C (p.Ala288Pro)
|
rs1210713694
|
|
NM_183050.4(BCKDHB):c.8_19dup (p.Val3_Ala6dup)
|
rs1554180793
|
|
NM_183050.4(BCKDHB):c.943A>G (p.Ile315Val)
|
|
|
NM_183050.4(BCKDHB):c.951+4T>C
|
rs778135997
|
|
NM_183050.4(BCKDHB):c.953C>T (p.Ser318Phe)
|
rs1562193767
|
|
NM_183050.4(BCKDHB):c.968G>C (p.Gly323Ala)
|
|
|
NM_183050.4(BCKDHB):c.971G>A (p.Arg324Gln)
|
|
|
NM_183050.4(BCKDHB):c.989A>G (p.Glu330Gly)
|
rs769446376
|
|
NM_183050.4(BCKDHB):c.98G>A (p.Arg33Gln)
|
|
|