NM_005629.4(SLC6A8):c.-5A>G
|
rs384573
|
1.00000
|
NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=)
|
rs4672457
|
0.98181
|
NM_012213.3(MLYCD):c.528+19T>C
|
rs446036
|
0.96188
|
NM_000282.4(PCCA):c.914+19A>G
|
rs4306370
|
0.92464
|
NM_015702.3(MMADHC):c.453G>A (p.Gln151=)
|
rs11545261
|
0.78682
|
NM_054012.4(ASS1):c.597+18A>G
|
rs652313
|
0.77461
|
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser)
|
rs624851
|
0.77065
|
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=)
|
rs543703
|
0.69798
|
NM_001142800.2(EYS):c.1300-3C>T
|
rs1936439
|
0.67522
|
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro)
|
rs9294631
|
0.67363
|
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=)
|
rs4674
|
0.66668
|
NM_000170.3(GLDC):c.*7G>C
|
rs2228098
|
0.66615
|
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=)
|
rs284652
|
0.66509
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
NM_001875.5(CPS1):c.2679C>G (p.Gly893=)
|
rs2287599
|
0.64925
|
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=)
|
rs6923864
|
0.64620
|
NM_000159.4(GCDH):c.*165A>G
|
rs8012
|
0.64188
|
NM_002225.5(IVD):c.234+14T>C
|
rs2289331
|
0.62561
|
NM_001875.5(CPS1):c.1032C>T (p.Thr344=)
|
rs2229589
|
0.59558
|
NM_000709.4(BCKDHA):c.376-10A>C
|
rs3213861
|
0.59120
|
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val)
|
rs8589
|
0.58978
|
NM_000255.4(MMUT):c.636G>A (p.Lys212=)
|
rs2229384
|
0.58567
|
NM_201548.5(CERKL):c.896-18T>A
|
rs13003064
|
0.58461
|
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
|
rs9593
|
0.57816
|
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro)
|
rs6923492
|
0.56892
|
NM_001482.3(GATM):c.1252T>C (p.Leu418=)
|
rs1145086
|
0.55793
|
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=)
|
rs9373491
|
0.55222
|
NM_153006.3(NAGS):c.*3C>T
|
rs186636
|
0.54224
|
NM_001142800.2(EYS):c.1809C>T (p.Val603=)
|
rs9345601
|
0.50550
|
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser)
|
rs9342464
|
0.50535
|
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=)
|
rs2942
|
0.49950
|
NM_001297.5(CNGB1):c.1122-15C>T
|
rs2303778
|
0.46316
|
NM_001482.3(GATM):c.330A>T (p.Gln110His)
|
rs1288775
|
0.45330
|
NM_000137.4(FAH):c.82-13G>A
|
rs1370275
|
0.45099
|
NM_002860.4(ALDH18A1):c.2206+15G>A
|
rs10882640
|
0.39029
|
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)
|
rs4710457
|
0.35152
|
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu)
|
rs12648
|
0.32715
|
NM_000108.5(DLD):c.*18A>T
|
rs8721
|
0.31455
|
NM_052845.4(MMAB):c.57C>A (p.Arg19=)
|
rs10774774
|
0.31358
|
NM_052845.4(MMAB):c.56G>A (p.Arg19His)
|
rs10774775
|
0.31347
|
NM_000071.3(CBS):c.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
NM_000159.4(GCDH):c.1173G>T (p.Gly391=)
|
rs1060218
|
0.30844
|
NM_000255.4(MMUT):c.1595G>A (p.Arg532His)
|
rs1141321
|
0.30110
|
NM_000071.3(CBS):c.699C>T (p.Tyr233=)
|
rs234706
|
0.28613
|
NM_000481.4(AMT):c.954G>A (p.Arg318=)
|
rs11715915
|
0.28593
|
NM_000320.3(QDPR):c.396G>A (p.Leu132=)
|
rs2597775
|
0.28406
|
NM_153006.3(NAGS):c.1096+20C>G
|
rs228771
|
0.28327
|
NM_201548.5(CERKL):c.239-12T>A
|
rs6433923
|
0.22971
|
NM_000277.3(PAH):c.168+19T>C
|
rs17842947
|
0.21168
|
NM_000277.3(PAH):c.735G>A (p.Val245=)
|
rs1042503
|
0.19782
|
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)
|
rs61753610
|
0.12981
|
NM_172250.3(MMAA):c.747G>A (p.Ser249=)
|
rs11721553
|
0.07844
|
NM_000137.4(FAH):c.267G>C (p.Leu89=)
|
rs33929922
|
0.07529
|
NM_012213.3(MLYCD):c.642-5C>T
|
rs2278037
|
0.07436
|
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr)
|
rs2229738
|
0.05682
|
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)
|
rs35719359
|
0.04130
|
NM_000045.4(ARG1):c.270C>T (p.Asn90=)
|
rs34504481
|
0.04124
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
NM_000156.6(GAMT):c.570+165G>A
|
rs74253480
|
0.00981
|
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
|
rs116192290
|
0.00735
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=)
|
rs113591366
|
|
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=)
|
rs1047006
|
|
NM_001875.5(CPS1):c.-4_-3insTTC
|
rs61509952
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|