|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
|
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)
|
rs374514431
|
0.00012
|
|
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
|
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
|
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)
|
rs761477436
|
0.00004
|
|
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
|
rs112406105
|
0.00003
|
|
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)
|
rs1207147043
|
0.00003
|
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
|
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)
|
rs1356375715
|
0.00001
|
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
|
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
|
NM_000531.6(OTC):c.847G>C (p.Gly283Arg)
|
rs2068530349
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
|
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)
|
rs119103230
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.88+1G>A
|
rs556267618
|
0.00001
|
|
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp)
|
rs121908081
|
0.00001
|
|
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)
|
rs121908642
|
0.00001
|
|
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)
|
rs776631396
|
0.00001
|
|
NM_000048.4(ASL):c.571C>G (p.Arg191Gly)
|
rs143508372
|
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
|
NM_000170.3(GLDC):c.2690G>A (p.Trp897Ter)
|
|
|
|
NM_000170.3(GLDC):c.846_847del (p.Arg282fs)
|
|
|
|
NM_000255.4(MMUT):c.1160C>A (p.Thr387Lys)
|
|
|
|
NM_000255.4(MMUT):c.2114T>G (p.Ile705Arg)
|
rs772888575
|
|
|
NM_000255.4(MMUT):c.671_678dup (p.Val227fs)
|
rs758008398
|
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
|
NM_000481.4(AMT):c.16del (p.Ser6fs)
|
rs1553638907
|
|
|
NM_000481.4(AMT):c.695_696+21del
|
rs1553638457
|
|
|
NM_000481.4(AMT):c.797T>C (p.Leu266Pro)
|
rs2049051428
|
|
|
NM_000531.6(OTC):c.275G>A (p.Arg92Gln)
|
rs66550389
|
|
|
NM_000531.6(OTC):c.386G>A (p.Arg129His)
|
rs66656800
|
|
|
NM_000531.6(OTC):c.437C>A (p.Ser146Ter)
|
|
|
|
NM_000531.6(OTC):c.604C>T (p.His202Tyr)
|
rs72558408
|
|
|
NM_000531.6(OTC):c.607T>C (p.Ser203Pro)
|
|
|
|
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)
|
rs72558410
|
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
|
NM_000687.4(AHCY):c.106C>T (p.Arg36Trp)
|
|
|
|
NM_000687.4(AHCY):c.142G>A (p.Ala48Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)
|
rs1064794261
|
|
|
NM_001258392.3(CLPB):c.455+1G>A
|
rs1856507751
|
|
|
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val)
|
rs1555442813
|
|
|
NM_001271.4(CHD2):c.2670C>G (p.Asn890Lys)
|
|
|
|
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter)
|
rs1555444702
|
|
|
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter)
|
rs864309547
|
|
|
NM_004975.4(KCNB1):c.587T>G (p.Ile196Ser)
|
|
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
|
NM_006721.4(ADK):c.642_645del (p.Ser215fs)
|
|
|
|
NM_006721.4(ADK):c.916C>T (p.Gln306Ter)
|
|
|
|
NM_014252.4(SLC25A15):c.95C>G (p.Thr32Arg)
|
rs121908536
|
|
|
NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)
|
|
|
|
NM_054012.4(ASS1):c.774-2A>G
|
rs1588496214
|
|