NM_000360.4(TH):c.241G>A (p.Val81Met)
|
rs6356
|
0.31555
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_000156.6(GAMT):c.460-31G>A
|
rs55776826
|
0.14411
|
NM_000156.6(GAMT):c.626C>T (p.Thr209Met)
|
rs17851582
|
0.07010
|
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)
|
rs11555096
|
0.02131
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_000187.4(HGD):c.1102A>G (p.Met368Val)
|
rs120074173
|
0.00031
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000156.6(GAMT):c.327G>A (p.Lys109=)
|
rs80338735
|
0.00017
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)
|
rs121964974
|
0.00016
|
NM_000187.4(HGD):c.481G>A (p.Gly161Arg)
|
rs28941783
|
0.00016
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_000137.4(FAH):c.554-1G>T
|
rs80338895
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_000137.4(FAH):c.786G>A (p.Trp262Ter)
|
rs80338899
|
0.00009
|
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)
|
rs28940286
|
0.00007
|
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)
|
rs120074174
|
0.00006
|
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)
|
rs80338734
|
0.00005
|
NM_000187.4(HGD):c.16-1G>A
|
rs397515347
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_000187.4(HGD):c.688C>T (p.Pro230Ser)
|
rs28942100
|
0.00003
|
NM_000481.4(AMT):c.878-1G>A
|
rs181134220
|
0.00003
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
NM_000156.6(GAMT):c.438A>G (p.Thr146=)
|
rs80338733
|
0.00001
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
NM_003124.5(SPR):c.596-2A>G
|
rs398122922
|
0.00001
|
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)
|
rs80356750
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)
|
rs80356758
|
0.00001
|
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
|
rs367543005
|
|
NM_000048.4(ASL):c.346C>T (p.Gln116Ter)
|
rs367543006
|
|
NM_000137.4(FAH):c.103G>A (p.Ala35Thr)
|
rs2142090724
|
|
NM_000137.4(FAH):c.424A>G (p.Arg142Gly)
|
rs1420414848
|
|
NM_000137.4(FAH):c.607-6T>G
|
rs80338896
|
|
NM_000137.4(FAH):c.698A>T (p.Asp233Val)
|
rs80338897
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.2284G>A (p.Gly762Arg)
|
rs386833550
|
|
NM_000187.4(HGD):c.1111dup (p.His371fs)
|
rs397515516
|
|
NM_000187.4(HGD):c.175del (p.Ser59fs)
|
rs397515517
|
|
NM_000187.4(HGD):c.342+1G>A
|
rs397515518
|
|
NM_000187.4(HGD):c.360T>G (p.Cys120Trp)
|
rs149165166
|
|
NM_000187.4(HGD):c.457dup (p.Asp153fs)
|
rs397515346
|
|
NM_000187.4(HGD):c.899T>G (p.Val300Gly)
|
rs120074170
|
|
NM_000481.4(AMT):c.125A>G (p.His42Arg)
|
rs121964983
|
|
NM_001024845.3(SLC6A9):c.1000A>G (p.Ser334Gly)
|
rs1057519313
|
|
NM_001024845.3(SLC6A9):c.1498C>T (p.Gln500Ter)
|
rs1057519314
|
|
NM_001024845.3(SLC6A9):c.709_713del (p.Lys237fs)
|
rs1057519315
|
|
NM_001482.3(GATM):c.1111dup (p.Met371fs)
|
rs397515542
|
|
NM_001482.3(GATM):c.446G>A (p.Trp149Ter)
|
rs80338737
|
|
NM_012463.4(ATP6V0A2):c.*115C>T
|
rs367543009
|
|
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter)
|
rs80356755
|
|
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs)
|
rs80356756
|
|
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del
|
rs367543007
|
|
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn)
|
rs367543008
|
|
NM_012463.4(ATP6V0A2):c.294+1G>A
|
rs80356751
|
|
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)
|
rs80356752
|
|
NM_012463.4(ATP6V0A2):c.732-2A>G
|
rs80356753
|
|
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs)
|
rs80356754
|
|
NM_015702.3(MMADHC):c.133dup (p.Ala45fs)
|
rs864309740
|
|
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)
|
rs118204047
|
|
NM_015702.3(MMADHC):c.228dup (p.Asn77fs)
|
rs864309741
|
|
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup)
|
rs397509362
|
|
NM_015702.3(MMADHC):c.455dup (p.Cys153fs)
|
rs864309743
|
|
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)
|
rs397509361
|
|
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)
|
rs864309742
|
|
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)
|
rs386834234
|
|