ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by Revvity Omics, Revvity

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 981
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_014270.5(SLC7A9):c.978-17G>A rs45628833 0.00315
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026 0.00266
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558 0.00163
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209 0.00163
NM_014270.5(SLC7A9):c.526G>A (p.Val176Ile) rs138744722 0.00160
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser) rs144230667 0.00154
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_003060.4(SLC22A5):c.-149G>A rs57262206 0.00144
NM_001739.2(CA5A):c.788G>A (p.Arg263His) rs201195769 0.00131
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00124
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met) rs139792723 0.00111
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962 0.00104
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160 0.00089
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_002454.3(MTRR):c.446C>T (p.Ala149Val) rs142714881 0.00077
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201 0.00076
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) rs535825137 0.00076
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145 0.00069
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn) rs150847674 0.00068
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725 0.00068
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_001142800.2(EYS):c.7034G>A (p.Arg2345His) rs201304559 0.00055
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) rs138937107 0.00049
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp) rs112209600 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser) rs142621386 0.00043
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu) rs144705277 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val) rs375935118 0.00042
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu) rs149678769 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn) rs149282954 0.00040
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe) rs146415045 0.00039
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=) rs142858149 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter) rs201976061 0.00037
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) rs756587384 0.00037
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_001739.2(CA5A):c.172G>A (p.Val58Met) rs200539625 0.00036
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887 0.00035
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp) rs145141432 0.00035
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819 0.00032
NM_001142800.2(EYS):c.8789A>G (p.Asp2930Gly) rs201690244 0.00031
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_002900.3(RBP3):c.1569C>G (p.His523Gln) rs148093336 0.00030
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr) rs61755260 0.00029
NM_016335.6(PRODH):c.578G>A (p.Gly193Asp) rs199907923 0.00029
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) rs778000327 0.00028
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys) rs144313458 0.00027
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro) rs121434373 0.00026
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691 0.00026
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280 0.00026
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln) rs142469446 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_000360.4(TH):c.1334+3G>C rs371566928 0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala) rs139373929 0.00024
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg) rs782560726 0.00024
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_001242957.3(MAK):c.1834G>C (p.Gly612Arg) rs201628941 0.00023
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00021
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000071.3(CBS):c.397G>A (p.Asp133Asn) rs539326697 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr) rs200620279 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354 0.00018
NM_001243279.3(ACSF3):c.1613+3A>C rs373631805 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_201548.5(CERKL):c.134G>A (p.Arg45Gln) rs568128856 0.00018
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 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_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823 0.00016
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) rs202182978 0.00016
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr) rs150544263 0.00016
NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala) rs544332057 0.00016
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00015
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr) rs776498025 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys) rs147611168 0.00014
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter) rs121913015 0.00014
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219 0.00014
NM_201548.5(CERKL):c.1556T>C (p.Ile519Thr) rs141723283 0.00014
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr) rs200243548 0.00013
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777 0.00012
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793 0.00011
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_006269.2(RP1):c.4783C>T (p.Arg1595Trp) rs555883522 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) rs201758122 0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00010
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn) rs368696141 0.00010
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000071.3(CBS):c.404C>T (p.Thr135Met) rs144832032 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000531.6(OTC):c.626C>G (p.Ala209Gly) rs72558417 0.00009
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr) rs368567109 0.00009
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) rs375628463 0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_032601.4(MCEE):c.520G>C (p.Glu174Gln) rs200334627 0.00009
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys) rs373514077 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) rs373327413 0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_000045.4(ARG1):c.746T>C (p.Val249Ala) rs755779260 0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) rs180819807 0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_018368.4(LMBRD1):c.1338+2T>C rs147270670 0.00007
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe) rs150895111 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys) rs376357524 0.00006
NM_000071.3(CBS):c.572C>T (p.Thr191Met) rs121964973 0.00006
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_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141 0.00006
NM_000187.4(HGD):c.365C>T (p.Ala122Val) rs544956641 0.00006
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) rs120074174 0.00006
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_000360.4(TH):c.13G>A (p.Asp5Asn) rs777016570 0.00006
NM_000532.5(PCCB):c.818A>T (p.Asp273Val) rs765749691 0.00006
NM_001003841.3(SLC6A19):c.697G>A (p.Val233Ile) rs183474162 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001379270.1(CNGA1):c.1768A>G (p.Met590Val) rs375049806 0.00006
NM_001739.2(CA5A):c.543C>T (p.Gly181=) rs534860826 0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_003124.5(SPR):c.448A>G (p.Arg150Gly) rs104893665 0.00006
NM_003124.5(SPR):c.751A>T (p.Lys251Ter) rs121917747 0.00006
NM_004171.4(SLC1A2):c.344G>A (p.Arg115His) rs200754925 0.00006
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744 0.00006
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr) rs554554993 0.00006
NM_054012.4(ASS1):c.458G>A (p.Arg153Gln) rs373239430 0.00006
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101 0.00005
NM_000320.3(QDPR):c.728A>G (p.Tyr243Cys) rs565356844 0.00005
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter) rs184722374 0.00005
NM_001698.3(AUH):c.158G>T (p.Gly53Val) rs747819278 0.00005
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520 0.00005
NM_004172.5(SLC1A3):c.1144G>A (p.Val382Met) rs199787096 0.00005
NM_006269.2(RP1):c.1380G>C (p.Lys460Asn) rs143494598 0.00005
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser) rs781133955 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473 0.00005
NM_183050.4(BCKDHB):c.1168A>G (p.Ile390Val) rs753690047 0.00005
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126 0.00004
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg) rs386833553 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251 0.00004
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) rs727504022 0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399 0.00004
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) rs761477436 0.00004
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) rs75166491 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.794G>A (p.Arg265Gln) rs199961079 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696 0.00004
NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter) rs118203983 0.00004
NM_001142800.2(EYS):c.3878-2A>G rs752930400 0.00004
NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter) rs777678022 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter) rs746877433 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001609.4(ACADSB):c.1165A>G (p.Met389Val) rs201877440 0.00004
NM_001739.2(CA5A):c.544G>A (p.Val182Met) rs149854962 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003060.4(SLC22A5):c.811G>A (p.Val271Met) rs143013773 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp) rs779379680 0.00004
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met) rs969369250 0.00004
NM_005050.4(ABCD4):c.362G>A (p.Arg121His) rs201744101 0.00004
NM_012213.3(MLYCD):c.560C>G (p.Ser187Ter) rs104894528 0.00004
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg) rs371449613 0.00004
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr) rs370229341 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr) rs775305020 0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721 0.00004
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile) rs761558985 0.00004
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804 0.00003
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944 0.00003
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly) rs140549609 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) rs781444670 0.00003
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp) rs552210450 0.00003
NM_000156.6(GAMT):c.42G>C (p.Glu14Asp) rs775018136 0.00003
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) rs370421531 0.00003
NM_000159.4(GCDH):c.1244-2A>C rs199999619 0.00003
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val) rs121964979 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000170.3(GLDC):c.2665+1G>C rs149070244 0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly) rs188269735 0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu) rs1207147043 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222 0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr) rs187962930 0.00003
NM_000485.3(APRT):c.250G>A (p.Val84Met) rs200392753 0.00003
NM_000532.5(PCCB):c.890G>A (p.Arg297His) rs147379583 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_001080.3(ALDH5A1):c.1480G>A (p.Glu494Lys) rs374232934 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_015509.4(NECAP1):c.136C>T (p.Arg46Cys) rs202044480 0.00003
NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys) rs549784997 0.00003
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992 0.00003
NM_000026.4(ADSL):c.802G>A (p.Asp268Asn) rs746501563 0.00002
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166 0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) rs774144200 0.00002
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) rs121909272 0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg) rs772871471 0.00002
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile) rs774910076 0.00002
NM_000255.4(MMUT):c.1084-10A>G rs777031588 0.00002
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) rs1238694184 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826 0.00002
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_000709.4(BCKDHA):c.288+1G>A rs398123496 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_001142800.2(EYS):c.6192-1G>T rs570020451 0.00002
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067 0.00002
NM_001201543.2(FAM161A):c.277G>T (p.Glu93Ter) rs531265943 0.00002
NM_001242957.3(MAK):c.1356_1357del (p.Glu454fs) rs762837543 0.00002
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387 0.00002
NM_001297.5(CNGB1):c.3G>A (p.Met1Ile) rs1230824209 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_001698.3(AUH):c.676C>T (p.Arg226Cys) rs148157596 0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp) rs139818667 0.00002
NM_002900.3(RBP3):c.1756G>A (p.Glu586Lys) rs782791110 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His) rs544069848 0.00002
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln) rs753575587 0.00002
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His) rs782325660 0.00002
NM_006269.2(RP1):c.1516A>G (p.Ser506Gly) rs546625124 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_018368.4(LMBRD1):c.1339-1G>T rs768709895 0.00002
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg) rs761480737 0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_021831.6(AGBL5):c.2602C>A (p.Gln868Lys) rs768632393 0.00002
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969 0.00002
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938 0.00002
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp) rs767706407 0.00002
NM_054012.4(ASS1):c.1194-1G>C rs727503814 0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106 0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_153006.3(NAGS):c.1593C>G (p.Asp531Glu) rs748372797 0.00002
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958 0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) rs398124561 0.00002
NM_000019.4(ACAT1):c.138T>C (p.Ser46=) rs763375578 0.00001
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069 0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser) rs372895468 0.00001
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195 0.00001
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) rs104893944 0.00001
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406 0.00001
NM_000048.4(ASL):c.280C>T (p.Arg94Cys) rs374304304 0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys) rs28940585 0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln) rs764602422 0.00001
NM_000048.4(ASL):c.976C>A (p.Gln326Lys) rs398123129 0.00001
NM_000071.3(CBS):c.1070C>G (p.Ala357Gly) rs863223437 0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met) rs372010465 0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160 0.00001
NM_000108.5(DLD):c.875+1G>A rs1328820332 0.00001
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) rs768925619 0.00001
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter) rs752127949 0.00001
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys) rs1555751336 0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840 0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) rs749452002 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000159.4(GCDH):c.770G>A (p.Arg257Gln) rs751583656 0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.2405C>T (p.Ala802Val) rs121964977 0.00001
NM_000170.3(GLDC):c.943G>A (p.Gly315Ser) rs1292183482 0.00001
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser) rs759130222 0.00001
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala) rs569669261 0.00001
NM_000255.4(MMUT):c.1957-2A>G rs1554158379 0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) rs777758903 0.00001
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) rs535411418 0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg) rs386833615 0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter) rs386833623 0.00001
NM_000277.3(PAH):c.169-2A>G rs1226613045 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.441+5G>T rs62507321 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.665A>G (p.Asp222Gly) rs62507319 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936 0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940 0.00001
NM_000277.3(PAH):c.969+6T>A rs62517196 0.00001
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896 0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749 0.00001
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272 0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734 0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met) rs370340361 0.00001
NM_000320.3(QDPR):c.115A>C (p.Ser39Arg) rs987746060 0.00001
NM_000341.4(SLC3A1):c.1332+2T>A rs758627758 0.00001
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp) rs761817519 0.00001
NM_000360.4(TH):c.1103C>T (p.Thr368Met) rs1057520384 0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171 0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser) rs762304556 0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser) rs1288483479 0.00001
NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter) rs759563967 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_000485.3(APRT):c.294G>A (p.Trp98Ter) rs104894507 0.00001
NM_000531.6(OTC):c.286T>C (p.Ser96Pro) rs184053962 0.00001
NM_000531.6(OTC):c.540+1G>A rs72556288 0.00001
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542 0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667 0.00001
NM_000709.4(BCKDHA):c.647-1G>C rs753216964 0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val) rs369448982 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000812.4(GABRB1):c.1142C>T (p.Ser381Leu) rs539587921 0.00001
NM_000836.4(GRIN2D):c.1855G>A (p.Gly619Ser) rs141530315 0.00001
NM_000836.4(GRIN2D):c.3523C>G (p.Pro1175Ala) rs1971333907 0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349 0.00001
NM_001201543.2(FAM161A):c.1321dup (p.His441fs) rs1316281505 0.00001
NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) rs267606794 0.00001
NM_001243279.3(ACSF3):c.666+1G>A rs1336382616 0.00001
NM_001354768.3(NRL):c.91C>T (p.Arg31Ter) rs762991211 0.00001
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile) rs397514409 0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) rs771537277 0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429 0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175 0.00001
NM_001609.4(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593 0.00001
NM_001609.4(ACADSB):c.265A>G (p.Met89Val) rs372537859 0.00001
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter) rs760791287 0.00001
NM_001875.5(CPS1):c.1926del (p.Asp642fs) rs1326644714 0.00001
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs) rs1375304341 0.00001
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter) rs1414143303 0.00001
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser) rs868808195 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys) rs727503896 0.00001
NM_002225.5(IVD):c.456+2T>C rs398123683 0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983 0.00001
NM_002454.3(MTRR):c.589G>C (p.Asp197His) rs748186027 0.00001
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe) rs1343821146 0.00001
NM_002900.3(RBP3):c.2240G>A (p.Arg747His) rs199953057 0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp) rs761533681 0.00001
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter) rs754008420 0.00001
NM_003060.4(SLC22A5):c.1238T>G (p.Val413Gly) rs1224278173 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003748.4(ALDH4A1):c.208G>A (p.Asp70Asn) rs1319600530 0.00001
NM_004171.4(SLC1A2):c.1225G>A (p.Ala409Thr) rs1022532582 0.00001
NM_004172.5(SLC1A3):c.1025G>A (p.Arg342Gln) rs780762087 0.00001
NM_004172.5(SLC1A3):c.770T>C (p.Ile257Thr) rs145397429 0.00001
NM_004974.4(KCNA2):c.1256G>A (p.Arg419Gln) rs1296710118 0.00001
NM_004974.4(KCNA2):c.511A>G (p.Met171Val) rs773468235 0.00001
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala) rs142461221 0.00001
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys) rs201100662 0.00001
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile) rs935130398 0.00001
NM_005881.4(BCKDK):c.529C>T (p.Arg177Trp) rs774302251 0.00001
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) rs545086633 0.00001
NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys) rs764650203 0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_006269.2(RP1):c.3340G>C (p.Gly1114Arg) rs1245809381 0.00001
NM_006269.2(RP1):c.5248G>T (p.Glu1750Ter) rs1444271998 0.00001
NM_006915.3(RP2):c.496A>G (p.Ile166Val) rs782510902 0.00001
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val) rs142790411 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_015702.3(MMADHC):c.155-3C>T rs773403678 0.00001
NM_020166.5(MCCC1):c.1399A>T (p.Ile467Phe) rs727504003 0.00001
NM_020166.5(MCCC1):c.302C>T (p.Ala101Val) rs772547872 0.00001
NM_020166.5(MCCC1):c.640-2A>G rs772395858 0.00001
NM_020166.5(MCCC1):c.872del (p.Ala291fs) rs748269732 0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg) rs766045910 0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019 0.00001
NM_022132.5(MCCC2):c.383+2del rs1745349463 0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter) rs727504010 0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877 0.00001
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn) rs936192871 0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NM_145261.4(DNAJC19):c.202G>A (p.Gly68Ser) rs754317673 0.00001
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln) rs864309731 0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_177550.5(SLC13A5):c.292G>A (p.Val98Met) rs529524270 0.00001
NM_183050.4(BCKDHB):c.633+1G>A rs398124589 0.00001
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs) rs1565297723
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000019.4(ACAT1):c.592G>A (p.Glu198Lys)
NM_000026.4(ADSL):c.1454A>G (p.Ter485Trp)
NM_000026.4(ADSL):c.358-1G>C rs2146634231
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile) rs1601586359
NM_000045.4(ARG1):c.589T>C (p.Tyr197His)
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)
NM_000048.4(ASL):c.99C>G (p.His33Gln) rs142077823
NM_000071.3(CBS):c.1208C>T (p.Thr403Met) rs886042297
NM_000071.3(CBS):c.1223+1G>T rs1601339216
NM_000071.3(CBS):c.1227_1240del (p.Trp409fs)
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000071.3(CBS):c.209+1G>A rs751464024
NM_000071.3(CBS):c.209+1G>C rs751464024
NM_000071.3(CBS):c.253G>A (p.Gly85Arg) rs863223435
NM_000071.3(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.1343A>G (p.Asp448Gly)
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.439-1G>C
NM_000108.5(DLD):c.803A>G (p.Gln268Arg)
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)
NM_000137.4(FAH):c.485G>A (p.Arg162His)
NM_000137.4(FAH):c.697del (p.Asp233fs) rs2142101046
NM_000137.4(FAH):c.847C>A (p.Pro283Thr)
NM_000137.4(FAH):c.991A>G (p.Thr331Ala)
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.332_338del (p.Ile111fs)
NM_000156.6(GAMT):c.339G>C (p.Leu113Phe)
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter) rs556829801
NM_000156.6(GAMT):c.421GAG[1] (p.Glu142del)
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs) rs1443859067
NM_000159.4(GCDH):c.196_198del (p.Leu66del)
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr) rs1417389111
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser) rs142967670
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000170.3(GLDC):c.1155+1G>T
NM_000170.3(GLDC):c.1493C>T (p.Ala498Val)
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1812del (p.Glu604fs) rs2129831647
NM_000170.3(GLDC):c.1927-4G>A rs576723612
NM_000170.3(GLDC):c.2175C>G (p.Tyr725Ter) rs147951756
NM_000170.3(GLDC):c.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2315+2T>G rs1554643738
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000170.3(GLDC):c.391A>T (p.Arg131Ter)
NM_000170.3(GLDC):c.853C>T (p.Gln285Ter) rs1818703974
NM_000170.3(GLDC):c.941T>C (p.Leu314Pro)
NM_000187.4(HGD):c.880-2A>G
NM_000191.3(HMGCL):c.428T>C (p.Ile143Thr)
NM_000191.3(HMGCL):c.621del (p.Val208fs) rs2148419158
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
NM_000191.3(HMGCL):c.71C>A (p.Ser24Ter) rs778751712
NM_000191.3(HMGCL):c.71C>G (p.Ser24Ter)
NM_000240.4(MAOA):c.1081C>G (p.Leu361Val)
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu) rs1660806761
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs) rs1572278166
NM_000254.3(MTR):c.3053dup (p.Asn1018fs) rs1400658126
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1240G>T (p.Glu414Ter) rs2127417916
NM_000255.4(MMUT):c.1802del (p.Ile601fs)
NM_000255.4(MMUT):c.2180G>A (p.Arg727Gln)
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) rs879253852
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.386-1G>A rs2127420084
NM_000255.4(MMUT):c.404C>T (p.Ser135Leu)
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) rs780283588
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000274.4(OAT):c.772-1G>A rs770390524
NM_000274.4(OAT):c.773T>A (p.Val258Asp)
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.168_168+1delinsAA rs786204457
NM_000277.3(PAH):c.208_210del (p.Ser70del) rs62642094
NM_000277.3(PAH):c.350_351del (p.Thr117fs)
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.509+1G>A rs63102461
NM_000277.3(PAH):c.510T>G (p.His170Gln) rs199475652
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000277.3(PAH):c.720C>T (p.Phe240=)
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.946G>T (p.Glu316Ter)
NM_000281.4(PCBD1):c.117_121del (p.His39fs)
NM_000282.4(PCCA):c.1037A>G (p.Tyr346Cys) rs542465356
NM_000282.4(PCCA):c.1184C>G (p.Ala395Gly)
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) rs879253806
NM_000282.4(PCCA):c.1268dup (p.Leu424fs)
NM_000282.4(PCCA):c.1428A>G (p.Arg476=)
NM_000282.4(PCCA):c.1900-2A>G rs2152998141
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000282.4(PCCA):c.2126C>T (p.Ser709Phe)
NM_000282.4(PCCA):c.2171T>A (p.Leu724His)
NM_000282.4(PCCA):c.284del (p.Asp95fs) rs775825345
NM_000282.4(PCCA):c.362A>G (p.Tyr121Cys) rs936088423
NM_000282.4(PCCA):c.574A>G (p.Ile192Val)
NM_000282.4(PCCA):c.638-2del
NM_000282.4(PCCA):c.677_678insTAAAGGGATTCGTAAGGTT (p.Met229fs)
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.893A>C (p.Lys298Thr)
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.243+4A>G
NM_000317.3(PTS):c.256C>T (p.Gln86Ter)
NM_000317.3(PTS):c.73C>G (p.Arg25Gly) rs1167104933
NM_000320.3(QDPR):c.105+1G>A rs776171302
NM_000327.4(ROM1):c.339del (p.Leu114fs) rs71458427
NM_000341.4(SLC3A1):c.1012-9_1012del rs2104364101
NM_000341.4(SLC3A1):c.1219T>G (p.Phe407Val)
NM_000341.4(SLC3A1):c.1390G>A (p.Val464Met)
NM_000341.4(SLC3A1):c.1403T>G (p.Leu468Arg) rs2104383996
NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del) rs1672827519
NM_000341.4(SLC3A1):c.533A>C (p.Glu178Ala)
NM_000341.4(SLC3A1):c.891+4A>G
NM_000353.3(TAT):c.805G>A (p.Asp269Asn)
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1285T>C (p.Ser429Pro)
NM_000360.4(TH):c.1462A>G (p.Thr488Ala)
NM_000360.4(TH):c.308T>C (p.Phe103Ser)
NM_000360.4(TH):c.392_395dup (p.Leu134fs)
NM_000360.4(TH):c.51del (p.Val18fs)
NM_000360.4(TH):c.617T>C (p.Ile206Thr)
NM_000360.4(TH):c.779del (p.Arg260fs)
NM_000411.8(HLCS):c.-393+2558C>T
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs) rs773065850
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000481.4(AMT):c.1033+5G>A
NM_000481.4(AMT):c.339+2T>C
NM_000481.4(AMT):c.3G>A (p.Met1Ile) rs2107938475
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.472-2A>T rs2107932966
NM_000485.3(APRT):c.13G>T (p.Glu5Ter) rs1244097151
NM_000485.3(APRT):c.200G>A (p.Arg67Gln) rs762509151
NM_000531.6(OTC):c.1033T>C (p.Tyr345His) rs66469337
NM_000531.6(OTC):c.1040C>G (p.Pro347Arg)
NM_000531.6(OTC):c.125_126delinsAC (p.Leu42His)
NM_000531.6(OTC):c.145A>C (p.Thr49Pro) rs72554316
NM_000531.6(OTC):c.145A>T (p.Thr49Ser)
NM_000531.6(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000531.6(OTC):c.452T>G (p.Leu151Arg) rs72556265
NM_000531.6(OTC):c.494A>G (p.Asp165Gly) rs1555975685
NM_000531.6(OTC):c.512A>G (p.Gln171Arg)
NM_000531.6(OTC):c.52C>A (p.His18Asn)
NM_000531.6(OTC):c.533C>T (p.Thr178Met) rs72556284
NM_000531.6(OTC):c.540+5G>C
NM_000531.6(OTC):c.614T>G (p.Met205Arg)
NM_000531.6(OTC):c.656C>A (p.Thr219Asn)
NM_000531.6(OTC):c.774T>G (p.Asn258Lys)
NM_000531.6(OTC):c.803T>C (p.Met268Thr) rs72558449
NM_000531.6(OTC):c.867+1126A>G rs1569281032
NM_000531.6(OTC):c.926AAG[1] (p.Glu310del) rs2068545306
NM_000531.6(OTC):c.931G>A (p.Val311Met) rs72558468
NM_000532.5(PCCB):c.1142dup (p.Cys381fs) rs2108237854
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
NM_000532.5(PCCB):c.1348G>A (p.Asp450Asn)
NM_000532.5(PCCB):c.1585C>T (p.Arg529Cys)
NM_000532.5(PCCB):c.371dup (p.Asp125fs)
NM_000532.5(PCCB):c.40C>T (p.Leu14Phe) rs1215705998
NM_000532.5(PCCB):c.430-1G>A rs2108146606
NM_000532.5(PCCB):c.518_543del (p.Ser172_Leu173insTer) rs2108146780
NM_000532.5(PCCB):c.655-2A>G rs1553778865
NM_000532.5(PCCB):c.899C>T (p.Pro300Leu)
NM_000687.4(AHCY):c.151G>T (p.Ala51Ser)
NM_000687.4(AHCY):c.697C>T (p.Arg233Trp)
NM_000687.4(AHCY):c.781A>G (p.Thr261Ala)
NM_000709.4(BCKDHA):c.1168-1G>A rs2039405116
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.397A>G (p.Thr133Ala)
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter) rs2122143379
NM_000709.4(BCKDHA):c.78del (p.Gln27fs) rs2123232769
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser) rs775749394
NM_000812.4(GABRB1):c.618C>T (p.Ile206=)
NM_000836.4(GRIN2D):c.2777C>T (p.Ala926Val)
NM_000836.4(GRIN2D):c.2867G>T (p.Gly956Val)
NM_000836.4(GRIN2D):c.3025G>T (p.Ala1009Ser)
NM_000836.4(GRIN2D):c.3220C>A (p.Pro1074Thr)
NM_000836.4(GRIN2D):c.3431G>C (p.Arg1144Pro)
NM_000836.4(GRIN2D):c.3910G>A (p.Gly1304Arg)
NM_000836.4(GRIN2D):c.3947G>T (p.Arg1316Leu) rs544435291
NM_000836.4(GRIN2D):c.49CTG[5] (p.Leu20dup) rs919633142
NM_001003841.3(SLC6A19):c.1173+2T>G rs142979576
NM_001024845.3(SLC6A9):c.737C>T (p.Thr246Met)
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001080.3(ALDH5A1):c.101C>T (p.Ala34Val)
NM_001080.3(ALDH5A1):c.1343+1_1343+3delinsTT rs875989801
NM_001080.3(ALDH5A1):c.1388del (p.Asp463fs)
NM_001080.3(ALDH5A1):c.341A>C (p.Glu114Ala)
NM_001080.3(ALDH5A1):c.870+1G>T
NM_001080.3(ALDH5A1):c.985A>G (p.Met329Val) rs1581818516
NM_001080442.3(SLC38A8):c.589C>T (p.Leu197Phe)
NM_001080442.3(SLC38A8):c.794A>G (p.Tyr265Cys)
NM_001080442.3(SLC38A8):c.895_901del (p.Arg299fs) rs1228073295
NM_001134707.2(SARDH):c.1306del (p.Asp436fs)
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter) rs774464019
NM_001142800.2(EYS):c.1527del (p.Asp510fs) rs2150319911
NM_001142800.2(EYS):c.3244-1G>C rs2150016293
NM_001142800.2(EYS):c.3443+1G>A rs373441420
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.4154_4155del (p.Pro1385fs) rs1766416713
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4943C>A (p.Ser1648Tyr)
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.5530_5534dup (p.Val1846fs) rs1405016852
NM_001142800.2(EYS):c.6286del (p.Ser2096fs) rs2150338012
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.6904G>C (p.Val2302Leu)
NM_001142800.2(EYS):c.7296T>A (p.Tyr2432Ter)
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.9036del (p.Leu3013fs) rs1225304963
NM_001201543.2(FAM161A):c.1849C>T (p.Gln617Ter) rs2105073672
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.1367-23_1396del
NM_001243279.3(ACSF3):c.136_146del (p.Val46fs) rs2151405491
NM_001243279.3(ACSF3):c.1376T>C (p.Val459Ala)
NM_001243279.3(ACSF3):c.1614-2A>G
NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln) rs140328142
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter) rs2151444797
NM_001297.5(CNGB1):c.2775G>A (p.Trp925Ter) rs2149358455
NM_001352514.2(HLCS):c.1148A>G (p.Tyr383Cys)
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=) rs771923409
NM_001352514.2(HLCS):c.1721T>A (p.Val574Glu)
NM_001352514.2(HLCS):c.958dup (p.Gln320fs)
NM_001367823.1(ARHGEF18):c.968-251G>A
NM_001370658.1(BTD):c.1030dup (p.Ile344fs)
NM_001370658.1(BTD):c.1103dup (p.Asn369fs) rs2125504069
NM_001370658.1(BTD):c.1110TCC[1] (p.Pro372del)
NM_001370658.1(BTD):c.1204dup (p.Leu402fs) rs397514411
NM_001370658.1(BTD):c.1459G>A (p.Glu487Lys)
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.500del (p.Pro167fs) rs2125500629
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001379270.1(CNGA1):c.1166T>G (p.Val389Gly)
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001609.4(ACADSB):c.1214G>A (p.Arg405Gln)
NM_001609.4(ACADSB):c.202+3A>C
NM_001609.4(ACADSB):c.232C>A (p.Pro78Thr)
NM_001698.3(AUH):c.1A>G (p.Met1Val)
NM_001698.3(AUH):c.656G>C (p.Gly219Ala) rs1827104191
NM_001739.2(CA5A):c.83T>A (p.Met28Lys)
NM_001875.5(CPS1):c.1142C>A (p.Thr381Asn)
NM_001875.5(CPS1):c.1584A>T (p.Glu528Asp)
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter) rs759201450
NM_001875.5(CPS1):c.2022T>A (p.Asn674Lys)
NM_001875.5(CPS1):c.2193-1G>A
NM_001875.5(CPS1):c.2391+2T>C
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu)
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys) rs1553516443
NM_001875.5(CPS1):c.3742G>A (p.Gly1248Arg)
NM_001875.5(CPS1):c.3812T>C (p.Leu1271Pro)
NM_001875.5(CPS1):c.3934A>C (p.Met1312Leu)
NM_001875.5(CPS1):c.4162-2A>G
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)
NM_001875.5(CPS1):c.4404+3A>G
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys) rs772490888
NM_001918.5(DBT):c.500A>C (p.Lys167Thr)
NM_001918.5(DBT):c.52-1G>C rs755914063
NM_002108.4(HAL):c.578C>G (p.Ser193Ter)
NM_002225.5(IVD):c.1165C>A (p.Pro389Thr)
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.122G>A (p.Gly41Glu) rs2141290050
NM_002225.5(IVD):c.149G>T (p.Arg50Leu)
NM_002225.5(IVD):c.254G>A (p.Gly85Glu) rs2141304438
NM_002225.5(IVD):c.265G>A (p.Val89Ile)
NM_002225.5(IVD):c.466G>A (p.Gly156Ser) rs1555404010
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.940C>T (p.Gln314Ter)
NM_002454.3(MTRR):c.1676+2T>C
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
NM_002454.3(MTRR):c.903+1G>A
NM_002454.3(MTRR):c.916del (p.Ser306fs) rs1212701617
NM_002900.3(RBP3):c.1412C>A (p.Thr471Lys)
NM_003038.5(SLC1A4):c.1040C>A (p.Ala347Glu)
NM_003038.5(SLC1A4):c.172_193del (p.Leu58fs)
NM_003038.5(SLC1A4):c.442C>T (p.Leu148Phe)
NM_003038.5(SLC1A4):c.570G>A (p.Thr190=)
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del) rs386134215
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter) rs1057518297
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.1385G>A (p.Gly462Asp) rs2126791535
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.706T>A (p.Cys236Ser)
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003060.4(SLC22A5):c.825-1G>C rs1057516805
NM_003060.4(SLC22A5):c.952-5_955del rs2126787981
NM_003124.5(SPR):c.307T>C (p.Ser103Pro)
NM_003124.5(SPR):c.544C>T (p.Gln182Ter) rs2105241166
NM_003124.5(SPR):c.616C>T (p.Gln206Ter)
NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs) rs779536510
NM_003982.4(SLC7A7):c.406G>A (p.Ala136Thr)
NM_003982.4(SLC7A7):c.499+1G>A rs386833817
NM_004113.6(FGF12):c.118G>C (p.Asp40His)
NM_004113.6(FGF12):c.14-47562G>A
NM_004113.6(FGF12):c.142C>T (p.Pro48Ser)
NM_004171.4(SLC1A2):c.1154_1155del (p.Val385fs)
NM_004171.4(SLC1A2):c.1601C>A (p.Ser534Tyr)
NM_004171.4(SLC1A2):c.1639G>A (p.Val547Ile)
NM_004171.4(SLC1A2):c.1715G>A (p.Arg572His)
NM_004171.4(SLC1A2):c.236C>A (p.Ala79Asp)
NM_004171.4(SLC1A2):c.260G>A (p.Arg87Lys)
NM_004171.4(SLC1A2):c.456G>C (p.Gln152His)
NM_004171.4(SLC1A2):c.469A>G (p.Lys157Glu) rs1851730752
NM_004171.4(SLC1A2):c.626G>A (p.Ser209Asn)
NM_004171.4(SLC1A2):c.777G>A (p.Met259Ile)
NM_004172.5(SLC1A3):c.674C>T (p.Thr225Ile)
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004975.4(KCNB1):c.1543G>A (p.Ala515Thr)
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
NM_004975.4(KCNB1):c.70G>A (p.Val24Met) rs778774389
NM_004975.4(KCNB1):c.917G>A (p.Arg306His) rs1984262011
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met) rs200761248
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)
NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)
NM_005271.5(GLUD1):c.615C>G (p.Phe205Leu)
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His) rs2148589382
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser) rs1376359622
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
NM_005589.4(ALDH6A1):c.349-3T>C
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
NM_005629.4(SLC6A8):c.617G>A (p.Arg206His)
NM_005763.4(AASS):c.1733A>G (p.Tyr578Cys)
NM_005763.4(AASS):c.2100T>G (p.Tyr700Ter) rs2150511876
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His) rs977038830
NM_005957.5(MTHFR):c.1175C>T (p.Ser392Phe)
NM_005957.5(MTHFR):c.1270G>T (p.Glu424Ter) rs1476689323
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)
NM_005957.5(MTHFR):c.1616A>G (p.His539Arg)
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter) rs1644092513
NM_005957.5(MTHFR):c.1860C>G (p.Asn620Lys)
NM_005957.5(MTHFR):c.1892G>A (p.Cys631Tyr)
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr) rs1056919085
NM_005957.5(MTHFR):c.547C>T (p.Arg183Ter) rs121434294
NM_005957.5(MTHFR):c.704_705del (p.Thr235fs)
NM_006269.2(RP1):c.1012C>T (p.Arg338Ter) rs1805984836
NM_006269.2(RP1):c.257dup (p.Arg87fs) rs1314420869
NM_006269.2(RP1):c.3428del (p.Asn1143fs) rs1806088809
NM_006269.2(RP1):c.606C>A (p.Asp202Glu) rs1805879513
NM_006269.2(RP1):c.871G>T (p.Asp291Tyr)
NM_006445.4(PRPF8):c.3166C>T (p.His1056Tyr)
NM_006445.4(PRPF8):c.6062A>T (p.Gln2021Leu)
NM_012213.3(MLYCD):c.1073C>T (p.Ser358Leu)
NM_012213.3(MLYCD):c.1139G>T (p.Ser380Ile)
NM_012213.3(MLYCD):c.1396A>G (p.Thr466Ala)
NM_012213.3(MLYCD):c.315G>C (p.Gln105His)
NM_012213.3(MLYCD):c.368dup (p.Gln124fs) rs1906699127
NM_012213.3(MLYCD):c.73C>A (p.Pro25Thr)
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln) rs146465073
NM_013247.5(HTRA2):c.573dup (p.Leu192fs) rs2104369249
NM_013247.5(HTRA2):c.755G>A (p.Arg252Gln)
NM_014003.4(DHX38):c.716A>G (p.Tyr239Cys) rs181471020
NM_014014.5(SNRNP200):c.3322A>G (p.Thr1108Ala)
NM_014014.5(SNRNP200):c.5918G>A (p.Arg1973His)
NM_014252.4(SLC25A15):c.208_209delinsTT (p.Ala70Leu) rs1064793683
NM_014252.4(SLC25A15):c.446del (p.Ser149fs) rs1566123619
NM_014252.4(SLC25A15):c.554_557del (p.Phe185fs) rs1882233400
NM_014252.4(SLC25A15):c.584G>A (p.Arg195Gln)
NM_014270.5(SLC7A9):c.1043G>A (p.Arg348His)
NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter)
NM_014270.5(SLC7A9):c.1266_1267del (p.Leu424fs) rs779653925
NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter) rs988712826
NM_014270.5(SLC7A9):c.1362T>G (p.Phe454Leu)
NM_014270.5(SLC7A9):c.251C>T (p.Ala84Val)
NM_014270.5(SLC7A9):c.512G>A (p.Arg171Gln)
NM_014270.5(SLC7A9):c.547G>C (p.Ala183Pro)
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034
NM_014362.4(HIBCH):c.311C>T (p.Ser104Leu)
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.439-1G>A rs2105952039
NM_014362.4(HIBCH):c.556C>T (p.Arg186Ter)
NM_014362.4(HIBCH):c.760_761delinsAT (p.Asp254Ile)
NM_014384.3(ACAD8):c.205C>T (p.Gln69Ter)
NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly) rs377629003
NM_014384.3(ACAD8):c.687T>G (p.Phe229Leu)
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) rs574983400
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys) rs1002571805
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.81+1G>C
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter) rs372187772
NM_016335.6(PRODH):c.1786T>C (p.Phe596Leu)
NM_016335.6(PRODH):c.22C>T (p.Pro8Ser) rs944412642
NM_016335.6(PRODH):c.427G>T (p.Asp143Tyr)
NM_016335.6(PRODH):c.485C>A (p.Ser162Tyr)
NM_016335.6(PRODH):c.850-10A>G
NM_016335.6(PRODH):c.934A>G (p.Met312Val)
NM_016579.4(CD320):c.11G>C (p.Gly4Ala) rs2232774
NM_016579.4(CD320):c.412C>A (p.Arg138Ser) rs201166605
NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe)
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs) rs771477094
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro) rs1714092180
NM_020166.5(MCCC1):c.1254_1255del (p.Gly419fs) rs2108478897
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val) rs565662458
NM_020166.5(MCCC1):c.1582C>T (p.Leu528Phe)
NM_020166.5(MCCC1):c.1645T>C (p.Tyr549His)
NM_020166.5(MCCC1):c.1681+2dup
NM_020166.5(MCCC1):c.1943_1944dup (p.Pro649fs) rs2108437770
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020166.5(MCCC1):c.227_228del (p.Val76fs) rs1718431677
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp) rs754963220
NM_020166.5(MCCC1):c.382G>T (p.Gly128Ter) rs2108528645
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp) rs186209189
NM_020166.5(MCCC1):c.763C>A (p.His255Asn) rs952365421
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter) rs2112251855
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly) rs1459143051
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter) rs752593298
NM_022132.5(MCCC2):c.284C>T (p.Ser95Phe)
NM_022132.5(MCCC2):c.351_353del (p.Gly118del) rs758794885
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)
NM_022132.5(MCCC2):c.848C>T (p.Ala283Val)
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly) rs757389984
NM_032601.4(MCEE):c.275G>A (p.Gly92Glu)
NM_032861.4(SERAC1):c.1167_1170del rs772296795
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs) rs761964407
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_032861.4(SERAC1):c.566T>G (p.Leu189Arg) rs576602246
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del) rs754630732
NM_052845.4(MMAB):c.556C>G (p.Arg186Gly)
NM_054012.4(ASS1):c.286C>A (p.Pro96Thr) rs2131874080
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_054012.4(ASS1):c.571G>T (p.Glu191Ter) rs777828000
NM_054012.4(ASS1):c.590A>G (p.Asn197Ser)
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter) rs549085827
NM_054012.4(ASS1):c.904A>G (p.Met302Val) rs1846391609
NM_145261.4(DNAJC19):c.229A>G (p.Lys77Glu)
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer) rs2108509666
NM_153006.3(NAGS):c.1268+2T>C rs202041339
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)
NM_153006.3(NAGS):c.386C>G (p.Thr129Ser)
NM_153006.3(NAGS):c.458del (p.Gly153fs)
NM_153006.3(NAGS):c.702-1G>C
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)
NM_172250.3(MMAA):c.*703C>T rs548243828
NM_172250.3(MMAA):c.188_189del (p.Arg63fs)
NM_172250.3(MMAA):c.46C>A (p.Leu16Ile)
NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del)
NM_177550.5(SLC13A5):c.1159A>G (p.Arg387Gly)
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile) rs1453393447
NM_177550.5(SLC13A5):c.454G>A (p.Val152Met)
NM_177550.5(SLC13A5):c.601C>T (p.Arg201Trp) rs142320179
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val) rs1005542482
NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln) rs79761867
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs) rs398124601
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs) rs398124601
NM_201548.5(CERKL):c.1073+3_1073+6del rs1553513437
NM_201548.5(CERKL):c.1255G>A (p.Ala419Thr)
NM_201548.5(CERKL):c.808T>G (p.Leu270Val)

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