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_032169.5(ACAD11):c.37G>T (p.Glu13Ter)
|
rs151048899
|
0.00280
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_003060.4(SLC22A5):c.-149G>A
|
rs57262206
|
0.00144
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)
|
rs201162411
|
0.00116
|
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)
|
rs11568514
|
0.00114
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
NM_201548.5(CERKL):c.375C>G (p.Cys125Trp)
|
rs200711686
|
0.00084
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
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_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
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_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)
|
rs137891647
|
0.00047
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_003982.4(SLC7A7):c.895-2A>T
|
rs146582474
|
0.00036
|
NM_000048.4(ASL):c.532G>A (p.Val178Met)
|
rs28941473
|
0.00034
|
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_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
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_000159.4(GCDH):c.1262C>T (p.Ala421Val)
|
rs121434367
|
0.00027
|
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)
|
rs121434373
|
0.00026
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
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_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)
|
rs202142867
|
0.00022
|
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_021800.3(DNAJC12):c.524G>A (p.Trp175Ter)
|
rs370032864
|
0.00022
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
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_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)
|
rs149120354
|
0.00018
|
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)
|
rs114269482
|
0.00018
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_000156.6(GAMT):c.327G>A (p.Lys109=)
|
rs80338735
|
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_000532.5(PCCB):c.1606A>G (p.Asn536Asp)
|
rs202247823
|
0.00016
|
NM_001370658.1(BTD):c.410G>A (p.Arg137His)
|
rs146015592
|
0.00016
|
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)
|
rs121908419
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)
|
rs28941472
|
0.00015
|
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)
|
rs780768015
|
0.00015
|
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)
|
rs398124598
|
0.00015
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
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_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)
|
rs121918376
|
0.00014
|
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
|
rs150283105
|
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_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
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_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)
|
rs374514431
|
0.00012
|
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter)
|
rs201823777
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
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.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
|
rs376289130
|
0.00011
|
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)
|
rs201041864
|
0.00011
|
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)
|
rs757052602
|
0.00011
|
NM_000071.3(CBS):c.362G>A (p.Arg121His)
|
rs770095972
|
0.00010
|
NM_000071.3(CBS):c.700G>A (p.Asp234Asn)
|
rs773734233
|
0.00010
|
NM_000137.4(FAH):c.554-1G>T
|
rs80338895
|
0.00010
|
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)
|
rs77958223
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)
|
rs267607052
|
0.00010
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_000137.4(FAH):c.786G>A (p.Trp262Ter)
|
rs80338899
|
0.00009
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000277.3(PAH):c.434A>T (p.Asp145Val)
|
rs140175796
|
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_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)
|
rs398123508
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001902.6(CTH):c.1064del (p.Thr355fs)
|
rs746818113
|
0.00009
|
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)
|
rs60376624
|
0.00009
|
NM_014251.3(SLC25A13):c.848+3A>C
|
rs369402461
|
0.00009
|
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)
|
rs183276875
|
0.00009
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)
|
rs767543051
|
0.00008
|
NM_000048.4(ASL):c.446+1G>A
|
rs142637046
|
0.00008
|
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)
|
rs143508372
|
0.00008
|
NM_000071.3(CBS):c.1224-2A>C
|
rs375846341
|
0.00008
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)
|
rs121965075
|
0.00008
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00008
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_001142800.2(EYS):c.5928-2A>G
|
rs181169439
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
|
rs762114560
|
0.00007
|
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)
|
rs121434278
|
0.00007
|
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)
|
rs28940286
|
0.00007
|
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)
|
rs150938052
|
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_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_000277.3(PAH):c.896T>G (p.Phe299Cys)
|
rs62642933
|
0.00007
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_001370658.1(BTD):c.566G>A (p.Arg189His)
|
rs398123139
|
0.00007
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
NM_004453.4(ETFDH):c.51dup (p.Ala18fs)
|
rs796051964
|
0.00007
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)
|
rs121908646
|
0.00007
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)
|
rs775537775
|
0.00006
|
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)
|
rs762991875
|
0.00006
|
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)
|
rs759396688
|
0.00006
|
NM_000071.3(CBS):c.572C>T (p.Thr191Met)
|
rs121964973
|
0.00006
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)
|
rs970505762
|
0.00006
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg)
|
rs886054247
|
0.00006
|
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)
|
rs372983141
|
0.00006
|
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
|
rs763494292
|
0.00006
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
0.00006
|
NM_000372.5(TYR):c.229C>T (p.Arg77Trp)
|
rs61753184
|
0.00006
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)
|
rs760798455
|
0.00006
|
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
0.00006
|
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)
|
rs144547521
|
0.00006
|
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)
|
rs386833808
|
0.00006
|
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)
|
rs398124152
|
0.00006
|
NM_005518.4(HMGCS2):c.1016+1G>A
|
rs771607178
|
0.00006
|
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)
|
rs80338729
|
0.00006
|
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)
|
rs202247807
|
0.00006
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
0.00006
|
NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter)
|
rs188492864
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_206933.4(USH2A):c.12295-3T>A
|
rs111033518
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
NM_000048.4(ASL):c.544C>T (p.Arg182Ter)
|
rs398123126
|
0.00005
|
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)
|
rs80338734
|
0.00005
|
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)
|
rs775606471
|
0.00005
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)
|
rs121965044
|
0.00005
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
0.00005
|
NM_000387.6(SLC25A20):c.532C>T (p.Arg178Ter)
|
rs778220325
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_001142800.2(EYS):c.6571+5G>A
|
rs991580368
|
0.00005
|
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)
|
rs184722374
|
0.00005
|
NM_001876.4(CPT1A):c.1163+1G>A
|
rs148059333
|
0.00005
|
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)
|
rs11568520
|
0.00005
|
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)
|
rs121908886
|
0.00005
|
NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter)
|
rs104894429
|
0.00005
|
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)
|
rs544349961
|
0.00005
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala)
|
rs373057729
|
0.00004
|
NM_000016.6(ACADM):c.388-3T>G
|
rs764942250
|
0.00004
|
NM_000016.6(ACADM):c.50G>A (p.Arg17His)
|
rs17848070
|
0.00004
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)
|
rs755359126
|
0.00004
|
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)
|
rs373697663
|
0.00004
|
NM_000048.4(ASL):c.649C>T (p.Arg217Ter)
|
rs369879957
|
0.00004
|
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)
|
rs373782713
|
0.00004
|
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)
|
rs754202690
|
0.00004
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)
|
rs781477694
|
0.00004
|
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)
|
rs121434370
|
0.00004
|
NM_000159.4(GCDH):c.848del (p.Leu283fs)
|
rs761491320
|
0.00004
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
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.727C>T (p.Arg243Ter)
|
rs5030846
|
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_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)
|
rs1126422
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_001142800.2(EYS):c.4451G>A (p.Trp1484Ter)
|
rs1239854361
|
0.00004
|
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)
|
rs527236068
|
0.00004
|
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)
|
rs398123575
|
0.00004
|
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)
|
rs1311193836
|
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.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
NM_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)
|
rs371427844
|
0.00004
|
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)
|
rs72552732
|
0.00004
|
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)
|
rs185551386
|
0.00004
|
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)
|
rs386134203
|
0.00004
|
NM_003982.4(SLC7A7):c.377del (p.Ile126fs)
|
rs774080549
|
0.00004
|
NM_003982.4(SLC7A7):c.625+1G>A
|
rs386833822
|
0.00004
|
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)
|
rs558005496
|
0.00004
|
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)
|
rs746598421
|
0.00004
|
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)
|
rs121964954
|
0.00004
|
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)
|
rs780015493
|
0.00004
|
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)
|
rs121908127
|
0.00004
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
NM_014251.3(SLC25A13):c.1231-1G>A
|
rs781452100
|
0.00004
|
NM_032316.3(NICN1):c.*2328C>T
|
rs386833677
|
0.00004
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)
|
rs369296618
|
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.469C>T (p.Arg157Cys)
|
rs770585183
|
0.00004
|
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)
|
rs765338121
|
0.00004
|
NM_054012.4(ASS1):c.892del (p.Glu298fs)
|
rs770362721
|
0.00004
|
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)
|
rs398124579
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00004
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His)
|
rs1380261595
|
0.00004
|
NM_206933.4(USH2A):c.9570+1G>A
|
rs760225886
|
0.00004
|
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)
|
rs148207467
|
0.00003
|
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)
|
rs398123072
|
0.00003
|
NM_000016.6(ACADM):c.388-14A>G
|
rs372525651
|
0.00003
|
NM_000016.6(ACADM):c.426del (p.Lys143fs)
|
rs777998984
|
0.00003
|
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)
|
rs754359356
|
0.00003
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
|
rs112406105
|
0.00003
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg)
|
rs398123085
|
0.00003
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
NM_000019.4(ACAT1):c.1006-2A>C
|
rs145229472
|
0.00003
|
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)
|
rs140549609
|
0.00003
|
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)
|
rs104893940
|
0.00003
|
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)
|
rs767271619
|
0.00003
|
NM_000048.4(ASL):c.284G>A (p.Arg95His)
|
rs150244667
|
0.00003
|
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)
|
rs771298943
|
0.00003
|
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)
|
rs121964972
|
0.00003
|
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)
|
rs781444670
|
0.00003
|
NM_000071.3(CBS):c.737-1G>C
|
rs757428597
|
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_000159.4(GCDH):c.344G>A (p.Cys115Tyr)
|
rs776758971
|
0.00003
|
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)
|
rs1057516344
|
0.00003
|
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)
|
rs766518430
|
0.00003
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter)
|
rs121965057
|
0.00003
|
NM_000277.3(PAH):c.1066T>C (p.Tyr356His)
|
rs62507320
|
0.00003
|
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)
|
rs752255985
|
0.00003
|
NM_000277.3(PAH):c.136G>A (p.Gly46Ser)
|
rs74603784
|
0.00003
|
NM_000277.3(PAH):c.168+5G>C
|
rs62507288
|
0.00003
|
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
NM_000277.3(PAH):c.464G>A (p.Arg155His)
|
rs199475663
|
0.00003
|
NM_000277.3(PAH):c.516G>T (p.Gln172His)
|
rs192592111
|
0.00003
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
NM_000277.3(PAH):c.60+5G>T
|
rs62514895
|
0.00003
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
NM_000277.3(PAH):c.745C>T (p.Leu249Phe)
|
rs74503222
|
0.00003
|
NM_000277.3(PAH):c.890G>A (p.Arg297His)
|
rs62642939
|
0.00003
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)
|
rs62514958
|
0.00003
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
NM_000317.3(PTS):c.84-291A>G
|
rs1480995114
|
0.00003
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
NM_000387.6(SLC25A20):c.199-10T>G
|
rs541208710
|
0.00003
|
NM_000481.4(AMT):c.878-1G>A
|
rs181134220
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro)
|
rs770341883
|
0.00003
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)
|
rs746102997
|
0.00003
|
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)
|
rs376456598
|
0.00003
|
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)
|
rs398123499
|
0.00003
|
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)
|
rs200137189
|
0.00003
|
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter)
|
rs928803207
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001142800.2(EYS):c.7228+1G>A
|
rs758899480
|
0.00003
|
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)
|
rs779983752
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)
|
rs1004027979
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
|
rs982218848
|
0.00003
|
NM_003060.4(SLC22A5):c.1161T>G (p.Tyr387Ter)
|
rs72552731
|
0.00003
|
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)
|
rs121908889
|
0.00003
|
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)
|
rs386833807
|
0.00003
|
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
|
rs377686388
|
0.00003
|
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)
|
rs751821289
|
0.00003
|
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)
|
rs377656387
|
0.00003
|
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)
|
rs767795266
|
0.00003
|
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)
|
rs375717077
|
0.00003
|
NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter)
|
rs758827458
|
0.00003
|
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter)
|
rs780525233
|
0.00003
|
NM_014251.3(SLC25A13):c.615+5G>A
|
rs80338717
|
0.00003
|
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser)
|
rs199894905
|
0.00003
|
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)
|
rs747527726
|
0.00003
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
NM_020166.5(MCCC1):c.1526del (p.Cys509fs)
|
rs727504002
|
0.00003
|
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter)
|
rs905321122
|
0.00003
|
NM_052845.4(MMAB):c.291-1G>A
|
rs199971687
|
0.00003
|
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln)
|
rs746219370
|
0.00003
|
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)
|
rs756859126
|
0.00003
|
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)
|
rs777828000
|
0.00003
|
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
|
rs121908639
|
0.00003
|
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)
|
rs796051992
|
0.00003
|
NM_172250.3(MMAA):c.658G>A (p.Val220Met)
|
rs150376474
|
0.00003
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
NM_201548.5(CERKL):c.222del (p.Gln74fs)
|
rs1476585944
|
0.00003
|
NM_201548.5(CERKL):c.598A>T (p.Lys200Ter)
|
rs398122963
|
0.00003
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter)
|
rs749702843
|
0.00003
|
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)
|
rs777465132
|
0.00003
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
0.00003
|
NM_206933.4(USH2A):c.15297+1G>C
|
rs767630412
|
0.00003
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)
|
rs398124619
|
0.00003
|
NM_206933.4(USH2A):c.8559-2A>G
|
rs397518039
|
0.00003
|
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)
|
rs766590491
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
NM_000016.6(ACADM):c.233T>C (p.Ile78Thr)
|
rs398123074
|
0.00002
|
NM_000016.6(ACADM):c.244dup (p.Trp82fs)
|
rs786204566
|
0.00002
|
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)
|
rs773677327
|
0.00002
|
NM_000016.6(ACADM):c.617G>A (p.Arg206His)
|
rs200724875
|
0.00002
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)
|
rs1231343685
|
0.00002
|
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)
|
rs766192888
|
0.00002
|
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)
|
rs373771053
|
0.00002
|
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
|
rs120074141
|
0.00002
|
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)
|
rs532190594
|
0.00002
|
NM_000045.4(ARG1):c.365G>A (p.Trp122Ter)
|
rs104893947
|
0.00002
|
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)
|
rs377280518
|
0.00002
|
NM_000048.4(ASL):c.338G>A (p.Arg113Gln)
|
rs752783461
|
0.00002
|
NM_000048.4(ASL):c.436C>T (p.Arg146Trp)
|
rs199938613
|
0.00002
|
NM_000048.4(ASL):c.447-1G>A
|
rs778254333
|
0.00002
|
NM_000048.4(ASL):c.557G>A (p.Arg186Gln)
|
rs752397242
|
0.00002
|
NM_000048.4(ASL):c.637C>T (p.Arg213Ter)
|
rs761651320
|
0.00002
|
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)
|
rs1449589636
|
0.00002
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)
|
rs778220779
|
0.00002
|
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)
|
rs775992753
|
0.00002
|
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)
|
rs121964966
|
0.00002
|
NM_000071.3(CBS):c.689del (p.Leu230fs)
|
rs775351239
|
0.00002
|
NM_000071.3(CBS):c.959T>C (p.Val320Ala)
|
rs781567152
|
0.00002
|
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)
|
rs748682601
|
0.00002
|
NM_000137.4(FAH):c.1090G>T (p.Glu364Ter)
|
rs121965076
|
0.00002
|
NM_000137.4(FAH):c.707-1G>A
|
rs149052294
|
0.00002
|
NM_000137.4(FAH):c.709C>T (p.Arg237Ter)
|
rs769550316
|
0.00002
|
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)
|
rs121909272
|
0.00002
|
NM_000159.4(GCDH):c.553G>A (p.Gly185Arg)
|
rs576948027
|
0.00002
|
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)
|
rs761765983
|
0.00002
|
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)
|
rs779315456
|
0.00002
|
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln)
|
rs746220312
|
0.00002
|
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)
|
rs137852771
|
0.00002
|
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)
|
rs752317877
|
0.00002
|
NM_000277.3(PAH):c.1066-3C>T
|
rs62507344
|
0.00002
|
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)
|
rs62508682
|
0.00002
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00002
|
NM_000277.3(PAH):c.508C>G (p.His170Asp)
|
rs199475655
|
0.00002
|
NM_000277.3(PAH):c.558_559del (p.Trp187fs)
|
rs62517207
|
0.00002
|
NM_000277.3(PAH):c.581T>C (p.Leu194Pro)
|
rs5030844
|
0.00002
|
NM_000277.3(PAH):c.806del (p.Ile269fs)
|
rs62508687
|
0.00002
|
NM_000277.3(PAH):c.809G>A (p.Arg270Lys)
|
rs62514950
|
0.00002
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
NM_000317.3(PTS):c.84-3C>G
|
rs1230781262
|
0.00002
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000360.4(TH):c.292C>T (p.Arg98Ter)
|
rs1057519220
|
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_000709.4(BCKDHA):c.659C>T (p.Ala220Val)
|
rs375785084
|
0.00002
|
NM_001142800.2(EYS):c.2259+1G>A
|
rs752736741
|
0.00002
|
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
|
rs74419361
|
0.00002
|
NM_001142800.2(EYS):c.32dup (p.Met12fs)
|
rs779372264
|
0.00002
|
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
|
rs919157306
|
0.00002
|
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)
|
rs933169926
|
0.00002
|
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)
|
rs527236067
|
0.00002
|
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)
|
rs142575695
|
0.00002
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)
|
rs773398782
|
0.00002
|
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)
|
rs772791252
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)
|
rs544110604
|
0.00002
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln)
|
rs121908891
|
0.00002
|
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)
|
rs386134210
|
0.00002
|
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)
|
rs386134212
|
0.00002
|
NM_003982.4(SLC7A7):c.1001T>G (p.Leu334Arg)
|
rs72552272
|
0.00002
|
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)
|
rs386833818
|
0.00002
|
NM_003982.4(SLC7A7):c.701del (p.Tyr233_Ser234insTer)
|
rs748127544
|
0.00002
|
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)
|
rs767249944
|
0.00002
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)
|
rs267606948
|
0.00002
|
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)
|
rs149753643
|
0.00002
|
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg)
|
rs104894430
|
0.00002
|
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)
|
rs556977618
|
0.00002
|
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)
|
rs757325789
|
0.00002
|
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)
|
rs398124295
|
0.00002
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)
|
rs397509363
|
0.00002
|
NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter)
|
rs1431992617
|
0.00002
|
NM_020166.5(MCCC1):c.137-2A>G
|
rs727504006
|
0.00002
|
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)
|
rs119103217
|
0.00002
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
|
rs141030969
|
0.00002
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)
|
rs387907236
|
0.00002
|
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)
|
rs1481415459
|
0.00002
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
NM_054012.4(ASS1):c.1194-1G>C
|
rs727503814
|
0.00002
|
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)
|
rs999844958
|
0.00002
|
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)
|
rs864309726
|
0.00002
|
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)
|
rs398124561
|
0.00002
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
0.00002
|
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
|
rs759898765
|
0.00002
|
NM_206933.4(USH2A):c.1391G>A (p.Arg464His)
|
rs771000800
|
0.00002
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
0.00002
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
NM_206933.4(USH2A):c.1644+1G>A
|
rs912980910
|
0.00002
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00002
|
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
|
rs201529124
|
0.00002
|
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
|
rs375668376
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp)
|
rs1394948601
|
0.00002
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_206933.4(USH2A):c.9371+1G>C
|
rs41308425
|
0.00002
|
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)
|
rs766140986
|
0.00001
|
NM_000016.6(ACADM):c.1085G>A (p.Gly362Glu)
|
rs150310121
|
0.00001
|
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)
|
rs753928772
|
0.00001
|
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)
|
rs398123075
|
0.00001
|
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)
|
rs746136472
|
0.00001
|
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)
|
rs875989859
|
0.00001
|
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)
|
rs121434283
|
0.00001
|
NM_000016.6(ACADM):c.599+1G>A
|
rs866388216
|
0.00001
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
NM_000016.6(ACADM):c.709-1G>A
|
rs941714381
|
0.00001
|
NM_000016.6(ACADM):c.717C>G (p.Asn239Lys)
|
rs1348176225
|
0.00001
|
NM_000016.6(ACADM):c.727C>T (p.Arg243Ter)
|
rs1462279583
|
0.00001
|
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)
|
rs121434281
|
0.00001
|
NM_000016.6(ACADM):c.85C>T (p.Arg29Ter)
|
rs745793409
|
0.00001
|
NM_000016.6(ACADM):c.946-2A>C
|
rs758753966
|
0.00001
|
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)
|
rs387906950
|
0.00001
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
NM_000018.4(ACADVL):c.1182+3G>T
|
rs376281637
|
0.00001
|
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp)
|
rs533055438
|
0.00001
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)
|
rs794727113
|
0.00001
|
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)
|
rs118204017
|
0.00001
|
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
|
rs113994170
|
0.00001
|
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)
|
rs398123083
|
0.00001
|
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs)
|
rs1555529088
|
0.00001
|
NM_000018.4(ACADVL):c.343-1G>A
|
rs1555527877
|
0.00001
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)
|
rs398123091
|
0.00001
|
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)
|
rs786204536
|
0.00001
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
NM_000018.4(ACADVL):c.878+1G>C
|
rs757946752
|
0.00001
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)
|
rs771247610
|
0.00001
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)
|
rs120074144
|
0.00001
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)
|
rs780486838
|
0.00001
|
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)
|
rs777821034
|
0.00001
|
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter)
|
rs1036185928
|
0.00001
|
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)
|
rs753829097
|
0.00001
|
NM_000045.4(ARG1):c.466-1G>C
|
rs1064794165
|
0.00001
|
NM_000045.4(ARG1):c.57+1G>A
|
rs587776539
|
0.00001
|
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)
|
rs104893944
|
0.00001
|
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)
|
rs104893948
|
0.00001
|
NM_000045.4(ARG1):c.93del (p.Arg32fs)
|
rs755975244
|
0.00001
|
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)
|
rs757109353
|
0.00001
|
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)
|
rs374304304
|
0.00001
|
NM_000048.4(ASL):c.349-1G>A
|
rs1395478201
|
0.00001
|
NM_000048.4(ASL):c.377G>A (p.Arg126Gln)
|
rs777235530
|
0.00001
|
NM_000048.4(ASL):c.446+2T>C
|
rs1268519003
|
0.00001
|
NM_000048.4(ASL):c.467C>T (p.Pro156Leu)
|
rs769017508
|
0.00001
|
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)
|
rs756363516
|
0.00001
|
NM_000048.4(ASL):c.602+1G>A
|
rs398123127
|
0.00001
|
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)
|
rs764602422
|
0.00001
|
NM_000071.3(CBS):c.1007G>A (p.Arg336His)
|
rs760417941
|
0.00001
|
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)
|
rs757920190
|
0.00001
|
NM_000071.3(CBS):c.1111G>A (p.Val371Met)
|
rs372010465
|
0.00001
|
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)
|
rs763036586
|
0.00001
|
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)
|
rs755952006
|
0.00001
|
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)
|
rs1347651454
|
0.00001
|
NM_000071.3(CBS):c.828+1G>A
|
rs763290176
|
0.00001
|
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)
|
rs753234219
|
0.00001
|
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)
|
rs119458969
|
0.00001
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
NM_000137.4(FAH):c.548_553+20del
|
rs768180953
|
0.00001
|
NM_000137.4(FAH):c.982C>T (p.Gln328Ter)
|
rs765134063
|
0.00001
|
NM_000156.6(GAMT):c.289C>T (p.Gln97Ter)
|
rs1215576338
|
0.00001
|
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)
|
rs374724533
|
0.00001
|
NM_000159.4(GCDH):c.1015A>G (p.Met339Val)
|
rs752234195
|
0.00001
|
NM_000159.4(GCDH):c.1045G>A (p.Ala349Thr)
|
rs1257292639
|
0.00001
|
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)
|
rs768925619
|
0.00001
|
NM_000159.4(GCDH):c.1064G>A (p.Arg355His)
|
rs748275416
|
0.00001
|
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)
|
rs752127949
|
0.00001
|
NM_000159.4(GCDH):c.1213dup (p.Met405fs)
|
rs1377352983
|
0.00001
|
NM_000159.4(GCDH):c.127+1G>A
|
rs1473339589
|
0.00001
|
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)
|
rs898043081
|
0.00001
|
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)
|
rs755586631
|
0.00001
|
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)
|
rs200639270
|
0.00001
|
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)
|
rs139851890
|
0.00001
|
NM_000159.4(GCDH):c.463T>C (p.Tyr155His)
|
rs1482995062
|
0.00001
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)
|
rs758503371
|
0.00001
|
NM_000159.4(GCDH):c.770G>A (p.Arg257Gln)
|
rs751583656
|
0.00001
|
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)
|
rs751742575
|
0.00001
|
NM_000159.4(GCDH):c.880C>T (p.Arg294Trp)
|
rs1864390545
|
0.00001
|
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)
|
rs1260580183
|
0.00001
|
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)
|
rs794726972
|
0.00001
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)
|
rs200438844
|
0.00001
|
NM_000182.5(HADHA):c.315-1G>A
|
rs1458898996
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)
|
rs1212444447
|
0.00001
|
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln)
|
rs199587895
|
0.00001
|
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)
|
rs760106433
|
0.00001
|
NM_000274.4(OAT):c.1192C>T (p.Arg398Ter)
|
rs200068769
|
0.00001
|
NM_000274.4(OAT):c.677C>T (p.Ala226Val)
|
rs121965059
|
0.00001
|
NM_000274.4(OAT):c.748C>T (p.Arg250Ter)
|
rs386833617
|
0.00001
|
NM_000274.4(OAT):c.952G>A (p.Glu318Lys)
|
rs386833621
|
0.00001
|
NM_000274.4(OAT):c.991C>T (p.Arg331Ter)
|
rs386833623
|
0.00001
|
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr)
|
rs62516150
|
0.00001
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
NM_000277.3(PAH):c.1183G>C (p.Ala395Pro)
|
rs62516103
|
0.00001
|
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)
|
rs62508736
|
0.00001
|
NM_000277.3(PAH):c.1199+17G>A
|
rs62508613
|
0.00001
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)
|
rs76542238
|
0.00001
|
NM_000277.3(PAH):c.193A>G (p.Ile65Val)
|
rs199475643
|
0.00001
|
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)
|
rs62509017
|
0.00001
|
NM_000277.3(PAH):c.275C>T (p.Thr92Ile)
|
rs62514903
|
0.00001
|
NM_000277.3(PAH):c.320A>G (p.His107Arg)
|
rs542645236
|
0.00001
|
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)
|
rs199475623
|
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.442-5C>G
|
rs62514909
|
0.00001
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
NM_000277.3(PAH):c.490A>G (p.Ile164Val)
|
rs199475647
|
0.00001
|
NM_000277.3(PAH):c.532G>A (p.Glu178Lys)
|
rs1448720360
|
0.00001
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000277.3(PAH):c.569T>C (p.Val190Ala)
|
rs62514919
|
0.00001
|
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)
|
rs62514927
|
0.00001
|
NM_000277.3(PAH):c.653G>T (p.Gly218Val)
|
rs62514933
|
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.737del (p.Ala246fs)
|
rs199475666
|
0.00001
|
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
NM_000277.3(PAH):c.776C>T (p.Ala259Val)
|
rs118203921
|
0.00001
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
NM_000277.3(PAH):c.789C>G (p.Phe263Leu)
|
rs62642944
|
0.00001
|
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)
|
rs62514953
|
0.00001
|
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
NM_000277.3(PAH):c.847A>T (p.Ile283Phe)
|
rs62517168
|
0.00001
|
NM_000277.3(PAH):c.848T>A (p.Ile283Asn)
|
rs62508693
|
0.00001
|
NM_000277.3(PAH):c.865G>A (p.Gly289Arg)
|
rs199475693
|
0.00001
|
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)
|
rs62642945
|
0.00001
|
NM_000277.3(PAH):c.912+1G>A
|
rs62514956
|
0.00001
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
NM_000277.3(PAH):c.926C>T (p.Ala309Val)
|
rs62642935
|
0.00001
|
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)
|
rs62642936
|
0.00001
|
NM_000277.3(PAH):c.940C>A (p.Pro314Thr)
|
rs199475650
|
0.00001
|
NM_000277.3(PAH):c.968_970del (p.Thr323del)
|
rs199475618
|
0.00001
|
NM_000277.3(PAH):c.969+6T>A
|
rs62517196
|
0.00001
|
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp)
|
rs1234167788
|
0.00001
|
NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln)
|
rs1301904623
|
0.00001
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
0.00001
|
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)
|
rs1241896966
|
0.00001
|
NM_000282.4(PCCA):c.231+1G>C
|
rs972937270
|
0.00001
|
NM_000282.4(PCCA):c.415-2A>C
|
rs746286209
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
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_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
NM_000353.3(TAT):c.1249C>T (p.Arg417Ter)
|
rs118203916
|
0.00001
|
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)
|
rs761817519
|
0.00001
|
NM_000353.3(TAT):c.889C>T (p.Arg297Ter)
|
rs758491525
|
0.00001
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
NM_000360.4(TH):c.646G>A (p.Gly216Ser)
|
rs762304556
|
0.00001
|
NM_000387.6(SLC25A20):c.496C>T (p.Arg166Ter)
|
rs151340616
|
0.00001
|
NM_000387.6(SLC25A20):c.533G>A (p.Arg178Gln)
|
rs754563147
|
0.00001
|
NM_000481.4(AMT):c.350C>T (p.Ser117Leu)
|
rs769468125
|
0.00001
|
NM_000481.4(AMT):c.46C>T (p.Gln16Ter)
|
rs2049124862
|
0.00001
|
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)
|
rs558998633
|
0.00001
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
NM_000481.4(AMT):c.665G>A (p.Arg222His)
|
rs562695274
|
0.00001
|
NM_000481.4(AMT):c.826G>C (p.Asp276His)
|
rs121964984
|
0.00001
|
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)
|
rs72558495
|
0.00001
|
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)
|
rs111033542
|
0.00001
|
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)
|
rs751538672
|
0.00001
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
NM_000532.5(PCCB):c.1399-2_1399-1del
|
rs1317123493
|
0.00001
|
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)
|
rs202247820
|
0.00001
|
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)
|
rs753981900
|
0.00001
|
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)
|
rs186031457
|
0.00001
|
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)
|
rs754752068
|
0.00001
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)
|
rs1304714042
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)
|
rs1214763792
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)
|
rs374625613
|
0.00001
|
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)
|
rs398123503
|
0.00001
|
NM_000709.4(BCKDHA):c.647-1G>C
|
rs753216964
|
0.00001
|
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)
|
rs199599175
|
0.00001
|
NM_000709.4(BCKDHA):c.854-2A>G
|
rs760494152
|
0.00001
|
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)
|
rs137852871
|
0.00001
|
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)
|
rs753698250
|
0.00001
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)
|
rs1471994744
|
0.00001
|
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)
|
rs371032798
|
0.00001
|
NM_001142800.2(EYS):c.2811C>A (p.Cys937Ter)
|
rs1466666397
|
0.00001
|
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)
|
rs878853349
|
0.00001
|
NM_001142800.2(EYS):c.2889T>A (p.Cys963Ter)
|
rs989589885
|
0.00001
|
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter)
|
rs1389794536
|
0.00001
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter)
|
rs794727631
|
0.00001
|
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)
|
rs909730457
|
0.00001
|
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter)
|
rs137853189
|
0.00001
|
NM_001142800.2(EYS):c.6191+1G>A
|
rs1048032321
|
0.00001
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr)
|
rs1562190751
|
0.00001
|
NM_001142800.2(EYS):c.6571+1G>A
|
rs1193854376
|
0.00001
|
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)
|
rs1060499783
|
0.00001
|
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter)
|
rs527236066
|
0.00001
|
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)
|
rs527236076
|
0.00001
|
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)
|
rs1168101857
|
0.00001
|
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)
|
rs373203896
|
0.00001
|
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn)
|
rs1211856182
|
0.00001
|
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro)
|
rs569561277
|
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.1567C>T (p.Arg523Ter)
|
rs387907118
|
0.00001
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs)
|
rs773102942
|
0.00001
|
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)
|
rs119103230
|
0.00001
|
NM_001352514.2(HLCS):c.2451-1G>A
|
rs1158898827
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
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.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)
|
rs1306944669
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)
|
rs397514364
|
0.00001
|
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)
|
rs372844636
|
0.00001
|
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)
|
rs190386869
|
0.00001
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
NM_001609.4(ACADSB):c.303+3A>G
|
rs1345480688
|
0.00001
|
NM_001876.4(CPT1A):c.281+1G>A
|
rs191107774
|
0.00001
|
NM_001918.5(DBT):c.1017G>A (p.Lys339=)
|
rs1490661508
|
0.00001
|
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)
|
rs398123660
|
0.00001
|
NM_001918.5(DBT):c.434-15_434-4del
|
rs727503895
|
0.00001
|
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
|
rs773560012
|
0.00001
|
NM_002225.5(IVD):c.149G>A (p.Arg50His)
|
rs2229311
|
0.00001
|
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)
|
rs765815516
|
0.00001
|
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)
|
rs776015412
|
0.00001
|
NM_002225.5(IVD):c.381del (p.Ala128fs)
|
rs769048174
|
0.00001
|
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
|
rs398123682
|
0.00001
|
NM_002225.5(IVD):c.456+2T>C
|
rs398123683
|
0.00001
|
NM_002225.5(IVD):c.498del (p.Glu166fs)
|
rs398123684
|
0.00001
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)
|
rs61731073
|
0.00001
|
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter)
|
rs72552722
|
0.00001
|
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)
|
rs386134218
|
0.00001
|
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)
|
rs749282641
|
0.00001
|
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
|
rs727504159
|
0.00001
|
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)
|
rs72552727
|
0.00001
|
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)
|
rs121908888
|
0.00001
|
NM_003060.4(SLC22A5):c.652+1G>A
|
rs386134200
|
0.00001
|
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)
|
rs386134204
|
0.00001
|
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)
|
rs72552725
|
0.00001
|
NM_003982.4(SLC7A7):c.1387del (p.Val463fs)
|
rs386833806
|
0.00001
|
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter)
|
rs121908679
|
0.00001
|
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)
|
rs779253471
|
0.00001
|
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)
|
rs200920510
|
0.00001
|
NM_004453.4(ETFDH):c.1690+1G>T
|
rs917285990
|
0.00001
|
NM_004453.4(ETFDH):c.1809G>A (p.Trp603Ter)
|
rs796051960
|
0.00001
|
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln)
|
rs765742496
|
0.00001
|
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val)
|
rs199899494
|
0.00001
|
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)
|
rs779896449
|
0.00001
|
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)
|
rs763541530
|
0.00001
|
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)
|
rs1235904433
|
0.00001
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)
|
rs113994208
|
0.00001
|
NM_004937.3(CTNS):c.646dup (p.Thr216fs)
|
rs893207601
|
0.00001
|
NM_004937.3(CTNS):c.681+1G>A
|
rs749317721
|
0.00001
|
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)
|
rs746307931
|
0.00001
|
NM_006907.4(PYCR1):c.356G>A (p.Arg119His)
|
rs121918377
|
0.00001
|
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr)
|
rs763004980
|
0.00001
|
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys)
|
rs777282696
|
0.00001
|
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)
|
rs377022708
|
0.00001
|
NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln)
|
rs387907042
|
0.00001
|
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)
|
rs398122839
|
0.00001
|
NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)
|
rs80338721
|
0.00001
|
NM_014251.3(SLC25A13):c.1177+1G>A
|
rs80338722
|
0.00001
|
NM_014251.3(SLC25A13):c.1311+1G>A
|
rs80338723
|
0.00001
|
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)
|
rs80338725
|
0.00001
|
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)
|
rs80338726
|
0.00001
|
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)
|
rs80338716
|
0.00001
|
NM_014251.3(SLC25A13):c.70-1G>A
|
rs962082210
|
0.00001
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
NM_014362.4(HIBCH):c.517+1G>A
|
rs1021805910
|
0.00001
|
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)
|
rs796051995
|
0.00001
|
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)
|
rs759188647
|
0.00001
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)
|
rs746135357
|
0.00001
|
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)
|
rs796051996
|
0.00001
|
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)
|
rs768978351
|
0.00001
|
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)
|
rs1463495909
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)
|
rs546099787
|
0.00001
|
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter)
|
rs1484347924
|
0.00001
|
NM_020166.5(MCCC1):c.639+2T>A
|
rs199914879
|
0.00001
|
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)
|
rs746500530
|
0.00001
|
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter)
|
rs750484977
|
0.00001
|
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln)
|
rs724159992
|
0.00001
|
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)
|
rs119103220
|
0.00001
|
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter)
|
rs764286389
|
0.00001
|
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)
|
rs119103226
|
0.00001
|
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)
|
rs727504010
|
0.00001
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)
|
rs786204537
|
0.00001
|
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)
|
rs771937610
|
0.00001
|
NM_054012.4(ASS1):c.174+1G>T
|
rs748264993
|
0.00001
|
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)
|
rs121908644
|
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.380G>A (p.Arg127Gln)
|
rs201623252
|
0.00001
|
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)
|
rs121908636
|
0.00001
|
NM_054012.4(ASS1):c.689-2A>C
|
rs374586230
|
0.00001
|
NM_054012.4(ASS1):c.773+49C>T
|
rs763389916
|
0.00001
|
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)
|
rs121908645
|
0.00001
|
NM_054012.4(ASS1):c.838+1G>T
|
rs750214431
|
0.00001
|
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)
|
rs121908642
|
0.00001
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)
|
rs864309731
|
0.00001
|
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)
|
rs104893846
|
0.00001
|
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)
|
rs1029096863
|
0.00001
|
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)
|
rs765799472
|
0.00001
|
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)
|
rs757548934
|
0.00001
|
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)
|
rs571038432
|
0.00001
|
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)
|
rs111033267
|
0.00001
|
NM_174878.3(CLRN1):c.433+1G>A
|
rs201205811
|
0.00001
|
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)
|
rs373208120
|
0.00001
|
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)
|
rs1304667430
|
0.00001
|
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)
|
rs751599203
|
0.00001
|
NM_183050.4(BCKDHB):c.152del (p.Val51fs)
|
rs867612284
|
0.00001
|
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)
|
rs776631396
|
0.00001
|
NM_183050.4(BCKDHB):c.633+1G>A
|
rs398124589
|
0.00001
|
NM_183050.4(BCKDHB):c.641T>A (p.Ile214Lys)
|
rs796051940
|
0.00001
|
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)
|
rs398124593
|
0.00001
|
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)
|
rs398124594
|
0.00001
|
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)
|
rs398124603
|
0.00001
|
NM_201548.5(CERKL):c.1074-1G>C
|
rs927261937
|
0.00001
|
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)
|
rs1187839124
|
0.00001
|
NM_201548.5(CERKL):c.238+1G>A
|
rs1276597208
|
0.00001
|
NM_201548.5(CERKL):c.239-2A>G
|
rs776886395
|
0.00001
|
NM_201548.5(CERKL):c.967_968del (p.Met323fs)
|
rs750151209
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)
|
rs779716464
|
0.00001
|
NM_206933.4(USH2A):c.11047+1G>A
|
rs201730567
|
0.00001
|
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)
|
rs1057519193
|
0.00001
|
NM_206933.4(USH2A):c.11389+3A>T
|
rs753886165
|
0.00001
|
NM_206933.4(USH2A):c.11473del (p.His3825fs)
|
rs774677256
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)
|
rs1064793289
|
0.00001
|
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg)
|
rs769001387
|
0.00001
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
|
rs111033385
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
0.00001
|
NM_206933.4(USH2A):c.13811+1G>A
|
rs1177257719
|
0.00001
|
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)
|
rs1553250627
|
0.00001
|
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser)
|
rs1254637647
|
0.00001
|
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)
|
rs199851839
|
0.00001
|
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
0.00001
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NM_206933.4(USH2A):c.1841-2A>G
|
rs397518003
|
0.00001
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)
|
rs781223647
|
0.00001
|
NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter)
|
rs1364987785
|
0.00001
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)
|
rs886039449
|
0.00001
|
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)
|
rs727503736
|
0.00001
|
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)
|
rs767078782
|
0.00001
|
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)
|
rs397518011
|
0.00001
|
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292
|
0.00001
|
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)
|
rs769198746
|
0.00001
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)
|
rs754374132
|
0.00001
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
NM_206933.4(USH2A):c.5572+1G>A
|
rs775293551
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter)
|
rs751130485
|
0.00001
|
NM_206933.4(USH2A):c.6050-1G>A
|
rs1035024403
|
0.00001
|
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)
|
rs111033386
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.6956del (p.Leu2319fs)
|
rs1201446573
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.7301-1G>A
|
rs1438496892
|
0.00001
|
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
|
rs1064797134
|
0.00001
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
NM_206933.4(USH2A):c.9056-2A>G
|
rs754970095
|
0.00001
|
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)
|
rs748465849
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter)
|
rs760858249
|
0.00001
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
GRCh37/hg19 14q11.2(chr14:23242388-23245542)
|
|
|
GRCh37/hg19 16q23.1(chr16:78143268-78154701)
|
|
|
GRCh37/hg19 16q23.1(chr16:78409180-78431277)
|
|
|
GRCh37/hg19 16q23.1(chr16:78458774-78463512)
|
|
|
GRCh37/hg19 Xp11.4(chrX:38144822-38164037)
|
|
|
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)
|
rs387906297
|
|
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)
|
rs1057516278
|
|
NM_000016.6(ACADM):c.1189dup (p.Tyr397fs)
|
rs875989877
|
|
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs)
|
rs875989860
|
|
NM_000016.6(ACADM):c.1237C>A (p.Arg413Ser)
|
|
|
NM_000016.6(ACADM):c.287-2A>G
|
rs1057518677
|
|
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)
|
rs2100365750
|
|
NM_000016.6(ACADM):c.322_325del (p.Ile108fs)
|
rs875989873
|
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del)
|
rs1570866192
|
|
NM_000016.6(ACADM):c.431_434del (p.Lys144fs)
|
rs1057517356
|
|
NM_000016.6(ACADM):c.437del (p.Leu146fs)
|
rs749529577
|
|
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)
|
rs786204642
|
|
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)
|
rs1553123872
|
|
NM_000016.6(ACADM):c.603T>A (p.Tyr201Ter)
|
|
|
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)
|
rs200724875
|
|
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)
|
rs149678400
|
|
NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer)
|
rs1557457623
|
|
NM_000016.6(ACADM):c.817_829del (p.Ala273fs)
|
rs875989872
|
|
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)
|
rs779759347
|
|
NM_000016.6(ACADM):c.927del (p.Phe309fs)
|
rs1557458562
|
|
NM_000016.6(ACADM):c.946-6T>G
|
rs765793260
|
|
NM_000016.6(ACADM):c.957_958del (p.Ser320fs)
|
rs1057517103
|
|
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)
|
rs1225471006
|
|
NM_000018.3(ACADVL):c.1375dup
|
rs796051916
|
|
NM_000018.4(ACADVL):c.100_104dup (p.Arg37fs)
|
rs2142960989
|
|
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)
|
rs1329022268
|
|
NM_000018.4(ACADVL):c.1077+2T>C
|
rs1057516370
|
|
NM_000018.4(ACADVL):c.1269+1G>A
|
rs773401248
|
|
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)
|
rs794727112
|
|
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)
|
rs398123082
|
|
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs)
|
rs1555529048
|
|
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)
|
rs796051917
|
|
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)
|
rs1057520507
|
|
NM_000018.4(ACADVL):c.192dup (p.Pro65fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.266del (p.Pro89fs)
|
rs771808680
|
|
NM_000018.4(ACADVL):c.298C>T (p.Gln100Ter)
|
|
|
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)
|
rs786204713
|
|
NM_000018.4(ACADVL):c.335del (p.Phe112fs)
|
rs764028320
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)
|
rs758144859
|
|
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)
|
rs786204738
|
|
NM_000018.4(ACADVL):c.552del (p.Ile184fs)
|
rs1597525249
|
|
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)
|
rs140629318
|
|
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)
|
rs1057516714
|
|
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)
|
rs1432183079
|
|
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
|
rs727503788
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
NM_000018.4(ACADVL):c.711_712del (p.Cys237fs)
|
rs2071256607
|
|
NM_000018.4(ACADVL):c.753-2A>G
|
rs398123092
|
|
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)
|
rs761204548
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)
|
rs387906252
|
|
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs)
|
rs2071289046
|
|
NM_000018.4(ACADVL):c.932del (p.Phe311fs)
|
rs764488310
|
|
NM_000018.4(ACADVL):c.996del (p.Ala333fs)
|
rs1057516843
|
|
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)
|
rs1057516843
|
|
NM_000019.4(ACAT1):c.1006-1G>C
|
rs1131691567
|
|
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)
|
rs781496140
|
|
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
|
|
|
NM_000019.4(ACAT1):c.435+1G>A
|
rs1591363834
|
|
NM_000019.4(ACAT1):c.52dup (p.Leu18fs)
|
rs1476273214
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)
|
rs749873354
|
|
NM_000045.4(ARG1):c.124G>T (p.Glu42Ter)
|
rs748744950
|
|
NM_000045.4(ARG1):c.232dup (p.Glu78fs)
|
|
|
NM_000045.4(ARG1):c.23T>A (p.Ile8Lys)
|
rs149310631
|
|
NM_000045.4(ARG1):c.272dup (p.Arg92fs)
|
rs796051923
|
|
NM_000045.4(ARG1):c.2T>C (p.Met1Thr)
|
rs1554249332
|
|
NM_000045.4(ARG1):c.466-2A>G
|
rs1554251045
|
|
NM_000045.4(ARG1):c.491G>A (p.Trp164Ter)
|
|
|
NM_000045.4(ARG1):c.603del (p.Glu202fs)
|
|
|
NM_000045.4(ARG1):c.700G>C (p.Asp234His)
|
|
|
NM_000045.4(ARG1):c.703G>C (p.Gly235Arg)
|
rs104893948
|
|
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg)
|
rs866970619
|
|
NM_000045.4(ARG1):c.938del (p.Lys313fs)
|
rs1554251356
|
|
NM_000048.4(ASL):c.1045_1057del (p.Val349fs)
|
rs796051933
|
|
NM_000048.4(ASL):c.1045_1062+7del
|
rs1329070853
|
|
NM_000048.4(ASL):c.106G>T (p.Glu36Ter)
|
|
|
NM_000048.4(ASL):c.1143+1G>T
|
|
|
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)
|
rs869312985
|
|
NM_000048.4(ASL):c.348+1G>A
|
|
|
NM_000048.4(ASL):c.425_426insAGCTCCCAGCT (p.Met143fs)
|
|
|
NM_000048.4(ASL):c.551_552del (p.Asp183_Ser184insTer)
|
rs1786675239
|
|
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)
|
rs111407265
|
|
NM_000048.4(ASL):c.602+1G>T
|
rs398123127
|
|
NM_000048.4(ASL):c.603-1G>C
|
rs1584028936
|
|
NM_000048.4(ASL):c.617G>T (p.Gly206Val)
|
|
|
NM_000048.4(ASL):c.631_647del (p.Val211fs)
|
rs1554327181
|
|
NM_000048.4(ASL):c.656-1G>A
|
|
|
NM_000048.4(ASL):c.706C>T (p.Arg236Trp)
|
rs761268464
|
|
NM_000048.4(ASL):c.735G>A (p.Trp245Ter)
|
rs1554327573
|
|
NM_000048.4(ASL):c.765dup (p.Met256fs)
|
rs1562742141
|
|
NM_000048.4(ASL):c.834-1G>A
|
|
|
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)
|
rs1170128038
|
|
NM_000071.3(CBS):c.1145+1G>A
|
|
|
NM_000071.3(CBS):c.1152G>C (p.Lys384Asn)
|
rs1304669003
|
|
NM_000071.3(CBS):c.1397C>A (p.Ser466Ter)
|
rs121964971
|
|
NM_000071.3(CBS):c.1566del (p.Lys523fs)
|
rs786204466
|
|
NM_000071.3(CBS):c.19del (p.Gln7fs)
|
rs748695461
|
|
NM_000071.3(CBS):c.19dup (p.Gln7fs)
|
rs748695461
|
|
NM_000071.3(CBS):c.209+1G>A
|
rs751464024
|
|
NM_000071.3(CBS):c.209dup (p.Ala71fs)
|
|
|
NM_000071.3(CBS):c.210-1G>C
|
rs2146414477
|
|
NM_000071.3(CBS):c.253G>A (p.Gly85Arg)
|
rs863223435
|
|
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)
|
rs786204757
|
|
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)
|
rs760214620
|
|
NM_000071.3(CBS):c.402del (p.Thr135fs)
|
rs1057517083
|
|
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)
|
rs121964963
|
|
NM_000071.3(CBS):c.684C>A (p.Asn228Lys)
|
rs1464223176
|
|
NM_000071.3(CBS):c.694C>G (p.His232Asp)
|
|
|
NM_000071.3(CBS):c.727C>T (p.Gln243Ter)
|
|
|
NM_000071.3(CBS):c.738del
|
rs766453711
|
|
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)
|
rs141502207
|
|
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)
|
rs779270933
|
|
NM_000071.3(CBS):c.913G>A (p.Gly305Arg)
|
|
|
NM_000071.3(CBS):c.954+1G>A
|
rs1057517373
|
|
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)
|
rs863223432
|
|
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)
|
rs1214130226
|
|
NM_000108.5(DLD):c.184C>T (p.Gln62Ter)
|
|
|
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)
|
rs1384386872
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
NM_000137.4(FAH):c.1030del (p.Asp344fs)
|
rs747546798
|
|
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)
|
rs121965077
|
|
NM_000137.4(FAH):c.1180+1G>A
|
rs980415517
|
|
NM_000137.4(FAH):c.192+1G>T
|
rs786204683
|
|
NM_000137.4(FAH):c.424A>G (p.Arg142Gly)
|
rs1420414848
|
|
NM_000137.4(FAH):c.455G>A (p.Trp152Ter)
|
rs1057516679
|
|
NM_000137.4(FAH):c.456G>A (p.Trp152Ter)
|
rs370686447
|
|
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)
|
rs781496816
|
|
NM_000137.4(FAH):c.607-1G>A
|
rs771712041
|
|
NM_000137.4(FAH):c.698A>T (p.Asp233Val)
|
rs80338897
|
|
NM_000137.4(FAH):c.718C>T (p.Gln240Ter)
|
|
|
NM_000137.4(FAH):c.744del (p.Pro249fs)
|
rs750741137
|
|
NM_000137.4(FAH):c.785G>A (p.Trp262Ter)
|
|
|
NM_000137.4(FAH):c.82-1G>A
|
rs1247460110
|
|
NM_000137.4(FAH):c.914-2A>T
|
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|
NM_000156.6(GAMT):c.134G>A (p.Trp45Ter)
|
|
|
NM_000156.6(GAMT):c.182-2A>G
|
rs2082624299
|
|
NM_000156.6(GAMT):c.235C>T (p.Gln79Ter)
|
|
|
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)
|
rs80338736
|
|
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter)
|
rs1369786965
|
|
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)
|
rs760101382
|
|
NM_000156.6(GAMT):c.491del (p.Gly164fs)
|
rs749390953
|
|
NM_000156.6(GAMT):c.491dup (p.Val165fs)
|
rs749390953
|
|
NM_000156.6(GAMT):c.526del (p.Glu176fs)
|
rs2144636246
|
|
NM_000156.6(GAMT):c.526dup (p.Glu176fs)
|
rs2144636246
|
|
NM_000156.6(GAMT):c.58dup (p.Trp20fs)
|
|
|
NM_000156.6(GAMT):c.64dup (p.Ala22fs)
|
rs1569009071
|
|
NM_000159.4(GCDH):c.1133C>T (p.Ala378Val)
|
rs1970719648
|
|
NM_000159.4(GCDH):c.1144_1145del (p.Ala382fs)
|
|
|
NM_000159.4(GCDH):c.1157G>A (p.Arg386Gln)
|
rs398123190
|
|
NM_000159.4(GCDH):c.1168G>A (p.Gly390Arg)
|
rs372983141
|
|
NM_000159.4(GCDH):c.1173del (p.Asn392fs)
|
rs754002357
|
|
NM_000159.4(GCDH):c.1173dup (p.Asn392fs)
|
rs754002357
|
|
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)
|
rs786204626
|
|
NM_000159.4(GCDH):c.1228G>A (p.Val410Met)
|
rs760155287
|
|
NM_000159.4(GCDH):c.1243+1G>T
|
rs1970723970
|
|
NM_000159.4(GCDH):c.1244-2A>G
|
rs199999619
|
|
NM_000159.4(GCDH):c.127+1G>T
|
|
|
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)
|
|
|
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp)
|
rs1555749239
|
|
NM_000159.4(GCDH):c.219del (p.Tyr74fs)
|
rs1057516521
|
|
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)
|
rs142967670
|
|
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)
|
rs142967670
|
|
NM_000159.4(GCDH):c.263G>A (p.Arg88His)
|
rs1970568682
|
|
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)
|
rs1273164833
|
|
NM_000159.4(GCDH):c.337T>C (p.Tyr113His)
|
rs1555749853
|
|
NM_000159.4(GCDH):c.411C>G (p.Tyr137Ter)
|
|
|
NM_000159.4(GCDH):c.481C>T (p.Arg161Trp)
|
rs1173575355
|
|
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)
|
rs786205862
|
|
NM_000159.4(GCDH):c.706T>C (p.Phe236Leu)
|
rs747920711
|
|
NM_000159.4(GCDH):c.79del (p.Ala27fs)
|
rs1057516939
|
|
NM_000159.4(GCDH):c.853-2A>G
|
rs1057517410
|
|
NM_000159.4(GCDH):c.896G>A (p.Trp299Ter)
|
rs1599616676
|
|
NM_000159.4(GCDH):c.957-1G>C
|
|
|
NM_000159.4(GCDH):c.961C>T (p.Gln321Ter)
|
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.793del (p.Gln265fs)
|
rs386833586
|
|
NM_000182.5(HADHA):c.1086-3_1092del
|
rs1057516460
|
|
NM_000182.5(HADHA):c.1533dup (p.Ile512fs)
|
|
|
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)
|
rs147103714
|
|
NM_000182.5(HADHA):c.1689+2T>G
|
rs1574602991
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
|
NM_000182.5(HADHA):c.180_180+5delinsAT
|
rs1553316142
|
|
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)
|
rs779113356
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
NM_000182.5(HADHA):c.2132dup (p.Pro712fs)
|
rs1574600309
|
|
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)
|
rs868816467
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
NM_000182.5(HADHA):c.315-2A>T
|
|
|
NM_000182.5(HADHA):c.574-2A>G
|
rs1670591013
|
|
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)
|
rs786204607
|
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
NM_000191.3(HMGCL):c.252+1G>A
|
rs775218067
|
|
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs)
|
rs1274176298
|
|
NM_000191.3(HMGCL):c.497+1dup
|
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
NM_000191.3(HMGCL):c.876+1G>C
|
rs779802353
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter)
|
rs879253824
|
|
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter)
|
rs121965036
|
|
NM_000274.4(OAT):c.1201G>T (p.Gly401Ter)
|
rs121965055
|
|
NM_000274.4(OAT):c.1205T>C (p.Leu402Pro)
|
rs121965043
|
|
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter)
|
rs121965058
|
|
NM_000274.4(OAT):c.159del (p.His53fs)
|
rs386833599
|
|
NM_000274.4(OAT):c.192_193del (p.Gly65fs)
|
rs386833600
|
|
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer)
|
rs386833612
|
|
NM_000274.4(OAT):c.542C>T (p.Thr181Met)
|
rs386833613
|
|
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter)
|
rs121965056
|
|
NM_000274.4(OAT):c.952del (p.Glu318fs)
|
rs386833620
|
|
NM_000274.4(OAT):c.994G>A (p.Val332Met)
|
rs121965047
|
|
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)
|
rs1182741031
|
|
NM_000277.2(PAH):c.169_171delGAG
|
rs199475665
|
|
NM_000277.3(PAH):c.1024del (p.Ala342fs)
|
rs63581460
|
|
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys)
|
rs62507265
|
|
NM_000277.3(PAH):c.1031G>A (p.Gly344Asp)
|
rs62508582
|
|
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)
|
rs62516062
|
|
NM_000277.3(PAH):c.1045T>G (p.Ser349Ala)
|
rs62508646
|
|
NM_000277.3(PAH):c.1055del (p.Gly352fs)
|
rs62516094
|
|
NM_000277.3(PAH):c.1065+1G>T
|
rs62516147
|
|
NM_000277.3(PAH):c.1065+241C>A
|
rs2136636327
|
|
NM_000277.3(PAH):c.1066-14C>G
|
rs62507334
|
|
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)
|
rs62516095
|
|
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)
|
rs376480977
|
|
NM_000277.3(PAH):c.1084C>A (p.Pro362Thr)
|
rs62507329
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
NM_000277.3(PAH):c.1097C>A (p.Pro366His)
|
rs62516098
|
|
NM_000277.3(PAH):c.1099dup (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1127del (p.Asn376fs)
|
rs62642921
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)
|
rs62517194
|
|
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)
|
rs776178623
|
|
NM_000277.3(PAH):c.1197A>T (p.Val399=)
|
rs199475584
|
|
NM_000277.3(PAH):c.1198del (p.Arg400fs)
|
rs199475590
|
|
NM_000277.3(PAH):c.1199+1G>A
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)
|
rs79931499
|
|
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)
|
rs199475696
|
|
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)
|
rs199475659
|
|
NM_000277.3(PAH):c.1315+2T>C
|
rs1799970
|
|
NM_000277.3(PAH):c.1315+4A>G
|
rs62508649
|
|
NM_000277.3(PAH):c.1315+6T>A
|
rs62508650
|
|
NM_000277.3(PAH):c.1316-2A>C
|
rs760830761
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
NM_000277.3(PAH):c.266dup (p.Ala90fs)
|
rs62506950
|
|
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
|
rs62508727
|
|
NM_000277.3(PAH):c.301G>A (p.Asp101Asn)
|
rs1555207979
|
|
NM_000277.3(PAH):c.352+1G>A
|
rs199475684
|
|
NM_000277.3(PAH):c.398_401del (p.Asn133fs)
|
rs199475605
|
|
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)
|
rs199475624
|
|
NM_000277.3(PAH):c.441+3G>C
|
rs62508642
|
|
NM_000277.3(PAH):c.442-1G>A
|
rs62514907
|
|
NM_000277.3(PAH):c.460T>C (p.Tyr154His)
|
rs199475587
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.48dup (p.Asp17Ter)
|
rs1592991176
|
|
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)
|
rs199475645
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
NM_000277.3(PAH):c.505C>A (p.Arg169Ser)
|
rs281865440
|
|
NM_000277.3(PAH):c.506G>T (p.Arg169Leu)
|
|
|
NM_000277.3(PAH):c.509+1G>A
|
rs63102461
|
|
NM_000277.3(PAH):c.510-2A>G
|
rs1555204750
|
|
NM_000277.3(PAH):c.510T>G (p.His170Gln)
|
rs199475652
|
|
NM_000277.3(PAH):c.529G>A (p.Val177Met)
|
rs199475602
|
|
NM_000277.3(PAH):c.529G>C (p.Val177Leu)
|
rs199475602
|
|
NM_000277.3(PAH):c.544G>A (p.Glu182Lys)
|
rs2136649777
|
|
NM_000277.3(PAH):c.556del (p.Thr186fs)
|
rs62507328
|
|
NM_000277.3(PAH):c.578C>T (p.Thr193Ile)
|
|
|
NM_000277.3(PAH):c.591G>C (p.Leu197Phe)
|
rs281865442
|
|
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)
|
rs199475697
|
|
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)
|
rs62514928
|
|
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)
|
rs62517201
|
|
NM_000277.3(PAH):c.632del (p.Pro211fs)
|
rs62514929
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
|
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)
|
rs62509013
|
|
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)
|
rs62514936
|
|
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)
|
rs62507323
|
|
NM_000277.3(PAH):c.691T>C (p.Ser231Pro)
|
rs5030845
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000277.3(PAH):c.722del (p.Arg241fs)
|
rs199475657
|
|
NM_000277.3(PAH):c.724C>T (p.Leu242Phe)
|
rs199475578
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
NM_000277.3(PAH):c.740G>T (p.Gly247Val)
|
rs199475579
|
|
NM_000277.3(PAH):c.745del (p.Leu249fs)
|
rs1057516914
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000277.3(PAH):c.792del (p.Cys265fs)
|
|
|
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)
|
rs62507262
|
|
NM_000277.3(PAH):c.833C>T (p.Thr278Ile)
|
rs62507262
|
|
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)
|
rs796064503
|
|
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)
|
rs199475582
|
|
NM_000277.3(PAH):c.856G>A (p.Glu286Lys)
|
rs62508739
|
|
NM_000277.3(PAH):c.910C>T (p.Gln304Ter)
|
rs1555204295
|
|
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)
|
rs62642913
|
|
NM_000277.3(PAH):c.938C>T (p.Ala313Val)
|
rs62642914
|
|
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)
|
rs199475615
|
|
NM_000277.3(PAH):c.977G>A (p.Trp326Ter)
|
rs62514959
|
|
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
|
rs776821944
|
|
NM_000282.4(PCCA):c.1477del (p.Arg493fs)
|
rs746733688
|
|
NM_000282.4(PCCA):c.1746+1G>A
|
rs2075369142
|
|
NM_000282.4(PCCA):c.2027del (p.Lys676fs)
|
rs1555327702
|
|
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)
|
rs369982920
|
|
NM_000282.4(PCCA):c.2119-1G>C
|
|
|
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)
|
rs1555361758
|
|
NM_000282.4(PCCA):c.446del (p.Asn149fs)
|
rs1206838893
|
|
NM_000282.4(PCCA):c.600+1G>A
|
rs879253802
|
|
NM_000282.4(PCCA):c.699G>A (p.Trp233Ter)
|
|
|
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)
|
rs781030239
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
NM_000282.4(PCCA):c.955C>T (p.Gln319Ter)
|
|
|
NM_000317.3(PTS):c.118_121del (p.Phe40fs)
|
rs747260038
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
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.186+1G>A
|
|
|
NM_000317.3(PTS):c.238A>G (p.Met80Val)
|
rs1057517810
|
|
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
|
|
|
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)
|
rs104894276
|
|
NM_000317.3(PTS):c.272A>G (p.Lys91Arg)
|
rs761285716
|
|
NM_000317.3(PTS):c.276T>A (p.Asn92Lys)
|
|
|
NM_000317.3(PTS):c.308T>C (p.Val103Ala)
|
rs1555198459
|
|
NM_000317.3(PTS):c.315-2A>G
|
rs1555198483
|
|
NM_000317.3(PTS):c.331G>A (p.Ala111Thr)
|
rs1367077861
|
|
NM_000317.3(PTS):c.379C>T (p.Leu127Phe)
|
rs1859971515
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
NM_000317.3(PTS):c.73C>T (p.Arg25Ter)
|
rs1167104933
|
|
NM_000353.3(TAT):c.169C>T (p.Arg57Ter)
|
rs118203914
|
|
NM_000360.4(TH):c.1010C>T (p.Pro337Leu)
|
rs2133692289
|
|
NM_000360.4(TH):c.1052T>C (p.Ile351Thr)
|
rs1554922725
|
|
NM_000360.4(TH):c.203del (p.Leu68fs)
|
rs1554923852
|
|
NM_000360.4(TH):c.641G>T (p.Arg214Met)
|
|
|
NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter)
|
rs756998699
|
|
NM_000387.6(SLC25A20):c.191_192del (p.Leu63_Phe64insTer)
|
rs2083881207
|
|
NM_000387.6(SLC25A20):c.270del (p.Phe91fs)
|
rs1575989549
|
|
NM_000387.6(SLC25A20):c.326+1del
|
rs757552268
|
|
NM_000387.6(SLC25A20):c.691G>C (p.Asp231His)
|
rs577331691
|
|
NM_000387.6(SLC25A20):c.706C>T (p.Arg236Ter)
|
|
|
NM_000387.6(SLC25A20):c.823C>T (p.Arg275Ter)
|
|
|
NM_000387.6(SLC25A20):c.843+4_843+50del
|
|
|
NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer)
|
rs2049020585
|
|
NM_000481.4(AMT):c.14dup (p.Ser6fs)
|
rs773988915
|
|
NM_000481.4(AMT):c.15_18del (p.Ser6fs)
|
rs1553638904
|
|
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)
|
rs386833683
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
|
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)
|
rs121964986
|
|
NM_000481.4(AMT):c.982dup (p.Ala328fs)
|
rs1553638266
|
|
NM_000531.6(OTC):c.119G>A (p.Arg40His)
|
rs72554308
|
|
NM_000531.6(OTC):c.238A>G (p.Lys80Glu)
|
rs72554332
|
|
NM_000531.6(OTC):c.274C>T (p.Arg92Ter)
|
rs67418243
|
|
NM_000531.6(OTC):c.275G>A (p.Arg92Gln)
|
rs66550389
|
|
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)
|
rs72558416
|
|
NM_000531.6(OTC):c.78-2A>G
|
|
|
NM_000532.5(PCCB):c.1173dup (p.Val392fs)
|
rs587776758
|
|
NM_000532.5(PCCB):c.1199-2A>G
|
|
|
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys)
|
rs777027944
|
|
NM_000532.5(PCCB):c.1498+2T>C
|
rs879253816
|
|
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)
|
rs186710233
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
NM_000532.5(PCCB):c.184-2A>G
|
rs1553774015
|
|
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter)
|
rs398123463
|
|
NM_000532.5(PCCB):c.415C>T (p.Gln139Ter)
|
|
|
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro)
|
rs202247819
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
NM_000532.5(PCCB):c.654+462A>G
|
rs1576327011
|
|
NM_000532.5(PCCB):c.838dup (p.Leu280fs)
|
rs769968548
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
NM_000532.5(PCCB):c.991G>T (p.Glu331Ter)
|
rs2108226567
|
|
NM_000709.4(BCKDHA):c.1168-2A>G
|
rs1555767285
|
|
NM_000709.4(BCKDHA):c.117del (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs)
|
rs398123492
|
|
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)
|
rs762084007
|
|
NM_000709.4(BCKDHA):c.529C>T (p.Gln177Ter)
|
|
|
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)
|
rs796051938
|
|
NM_000709.4(BCKDHA):c.718del (p.Ala240fs)
|
rs1555766993
|
|
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter)
|
rs764247545
|
|
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)
|
rs1569237077
|
|
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)
|
rs386833794
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)
|
rs1064794808
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)
|
rs1064794261
|
|
NM_001142800.2(EYS):c.1211del (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter)
|
rs527236072
|
|
NM_001142800.2(EYS):c.1961dup (p.Asn654fs)
|
rs749103801
|
|
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter)
|
rs372354156
|
|
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)
|
rs794727120
|
|
NM_001142800.2(EYS):c.2280_2283del (p.Ser761fs)
|
|
|
NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter)
|
rs992863438
|
|
NM_001142800.2(EYS):c.232del (p.Cys78fs)
|
rs1468020897
|
|
NM_001142800.2(EYS):c.2486del (p.Ile829fs)
|
rs2150076869
|
|
NM_001142800.2(EYS):c.2641+1G>A
|
rs1768029728
|
|
NM_001142800.2(EYS):c.2847-1G>T
|
|
|
NM_001142800.2(EYS):c.3443+1G>A
|
rs373441420
|
|
NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter)
|
rs1239806410
|
|
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter)
|
rs1291867456
|
|
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs)
|
rs1582376398
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.4557del (p.Ala1520fs)
|
rs768092887
|
|
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs)
|
rs886044304
|
|
NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter)
|
rs909730457
|
|
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)
|
rs527236065
|
|
NM_001142800.2(EYS):c.5283T>A (p.Tyr1761Ter)
|
rs1158231145
|
|
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer)
|
rs1554183440
|
|
NM_001142800.2(EYS):c.5834del (p.Lys1945fs)
|
rs774455587
|
|
NM_001142800.2(EYS):c.5928del
|
|
|
NM_001142800.2(EYS):c.5988C>A (p.Cys1996Ter)
|
|
|
NM_001142800.2(EYS):c.607C>T (p.Gln203Ter)
|
rs1766182274
|
|
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)
|
rs758109813
|
|
NM_001142800.2(EYS):c.6799_6800del (p.Gln2267fs)
|
|
|
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter)
|
rs1562220891
|
|
NM_001142800.2(EYS):c.7376dup (p.Asn2459fs)
|
|
|
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs)
|
rs1770904723
|
|
NM_001142800.2(EYS):c.7723+1G>A
|
rs1770412895
|
|
NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs)
|
rs1431427428
|
|
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)
|
rs751629543
|
|
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)
|
rs764229134
|
|
NM_001142800.2(EYS):c.8242_8243del (p.Leu2748fs)
|
|
|
NM_001142800.2(EYS):c.8243dup (p.Leu2748fs)
|
rs1240944758
|
|
NM_001142800.2(EYS):c.8392del (p.Asp2798fs)
|
|
|
NM_001142800.2(EYS):c.8408dup (p.Asn2803fs)
|
rs398123576
|
|
NM_001142800.2(EYS):c.8411_8412insTT (p.Val2804_Thr2805insTer)
|
|
|
NM_001142800.2(EYS):c.8413dup (p.Thr2805fs)
|
|
|
NM_001142800.2(EYS):c.8455del (p.Thr2819fs)
|
|
|
NM_001142800.2(EYS):c.8598del (p.Gly2867fs)
|
rs1050742628
|
|
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)
|
rs528919874
|
|
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs)
|
rs1554163919
|
|
NM_001142800.2(EYS):c.8804dup (p.Tyr2935Ter)
|
|
|
NM_001142800.2(EYS):c.9036del (p.Leu3013fs)
|
rs1225304963
|
|
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)
|
rs886044149
|
|
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)
|
rs770748359
|
|
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)
|
rs769824975
|
|
NM_001142800.2(EYS):c.9337_9350del (p.Lys3113fs)
|
|
|
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)
|
rs771640639
|
|
NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs)
|
rs1409801782
|
|
NM_001142800.2(EYS):c.942del (p.Ala315fs)
|
|
|
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)
|
rs786204428
|
|
NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter)
|
rs4672457
|
|
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)
|
rs397704718
|
|
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)
|
rs202193201
|
|
NM_001201543.2(FAM161A):c.943A>T (p.Lys315Ter)
|
rs1572879569
|
|
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)
|
rs1912700120
|
|
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer)
|
rs1064793662
|
|
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)
|
|
|
NM_001271.4(CHD2):c.628G>T (p.Glu210Ter)
|
rs1567133726
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys)
|
rs1942879102
|
|
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln)
|
rs796053229
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001352514.2(HLCS):c.727del (p.Val243fs)
|
rs2146528200
|
|
NM_001370658.1(BTD):c.1030dup (p.Ile344fs)
|
|
|
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
|
rs397514434
|
|
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)
|
rs397514339
|
|
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)
|
rs672601248
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)
|
rs397514335
|
|
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)
|
rs397514416
|
|
NM_001370658.1(BTD):c.1264del (p.Val422fs)
|
rs1057517362
|
|
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)
|
rs1553654142
|
|
NM_001370658.1(BTD):c.1433dup (p.Leu478fs)
|
rs397514425
|
|
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)
|
rs398123138
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
NM_001370658.1(BTD):c.202C>T (p.Gln68Ter)
|
rs151071780
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
NM_001370658.1(BTD):c.333del (p.Phe111fs)
|
rs397514356
|
|
NM_001370658.1(BTD):c.346del (p.Gln116fs)
|
rs1404904752
|
|
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)
|
rs2125486425
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)
|
rs397514362
|
|
NM_001370658.1(BTD):c.527del (p.Thr176fs)
|
rs1553653680
|
|
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)
|
rs397507174
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)
|
rs148031701
|
|
NM_001370658.1(BTD):c.76G>T (p.Glu26Ter)
|
rs397514336
|
|
NM_001370658.1(BTD):c.772C>G (p.Leu258Val)
|
rs397514388
|
|
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)
|
|
|
NM_001370658.1(BTD):c.992del (p.Thr331fs)
|
rs397514398
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_001876.4(CPT1A):c.1015C>T (p.Arg339Ter)
|
rs1435045544
|
|
NM_001876.4(CPT1A):c.1339C>T (p.Arg447Ter)
|
rs397515543
|
|
NM_001876.4(CPT1A):c.1762_1766dup (p.Tyr589Ter)
|
rs2153995212
|
|
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter)
|
rs398123654
|
|
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter)
|
rs80356782
|
|
NM_001918.5(DBT):c.1132C>T (p.Gln378Ter)
|
|
|
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)
|
rs749366506
|
|
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro)
|
rs750594890
|
|
NM_001918.5(DBT):c.363_364del (p.Tyr122fs)
|
rs753574354
|
|
NM_001918.5(DBT):c.725C>G (p.Ser242Ter)
|
rs201559874
|
|
NM_001918.5(DBT):c.916T>C (p.Ser306Pro)
|
rs2100797134
|
|
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)
|
|
|
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
|
|
|
NM_002225.5(IVD):c.1179del (p.Leu394fs)
|
rs786204613
|
|
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
|
rs398123681
|
|
NM_002225.5(IVD):c.1186G>C (p.Asp396His)
|
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.506_507insT (p.Gly170fs)
|
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
NM_003042.4(SLC6A1):c.1711del (p.Val571fs)
|
rs1574929097
|
|
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)
|
rs386134215
|
|
NM_003060.4(SLC22A5):c.1304del (p.Gly435fs)
|
rs386134217
|
|
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)
|
rs267607053
|
|
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)
|
rs386134221
|
|
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)
|
rs386134223
|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
|
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)
|
rs377767449
|
|
NM_003060.4(SLC22A5):c.394-1G>T
|
rs1057517106
|
|
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs)
|
rs386134195
|
|
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)
|
rs121908890
|
|
NM_003060.4(SLC22A5):c.517del (p.Leu173fs)
|
|
|
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.700G>C (p.Gly234Arg)
|
|
|
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)
|
rs121908893
|
|
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)
|
rs538372785
|
|
NM_003060.4(SLC22A5):c.802del (p.Val268fs)
|
rs2126783993
|
|
NM_003060.4(SLC22A5):c.825-52G>A
|
rs1194929977
|
|
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)
|
rs386134207
|
|
NM_003060.4(SLC22A5):c.844del (p.Arg282fs)
|
rs386134209
|
|
NM_003982.4(SLC7A7):c.1122C>A (p.Cys374Ter)
|
rs771254387
|
|
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)
|
rs386833800
|
|
NM_003982.4(SLC7A7):c.1228C>T (p.Arg410Ter)
|
rs121908678
|
|
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)
|
rs1290445670
|
|
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs)
|
rs386833812
|
|
NM_003982.4(SLC7A7):c.346_349del (p.Ala116fs)
|
|
|
NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter)
|
rs386833821
|
|
NM_003982.4(SLC7A7):c.895-2A>G
|
rs146582474
|
|
NM_004113.6(FGF12):c.155G>A (p.Arg52His)
|
rs886039903
|
|
NM_004453.4(ETFDH):c.1117-2A>G
|
|
|
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)
|
rs387907170
|
|
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe)
|
rs1200031596
|
|
NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter)
|
rs745714733
|
|
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg)
|
rs1774616485
|
|
NM_004453.4(ETFDH):c.1457dup (p.Lys487fs)
|
|
|
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)
|
rs534388496
|
|
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)
|
rs727503919
|
|
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs)
|
rs1469053638
|
|
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter)
|
|
|
NM_004453.4(ETFDH):c.1691-3C>G
|
|
|
NM_004453.4(ETFDH):c.175+2T>C
|
|
|
NM_004453.4(ETFDH):c.265_266del (p.Gln89fs)
|
rs1773880008
|
|
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs)
|
rs796051962
|
|
NM_004453.4(ETFDH):c.36del (p.Tyr13fs)
|
rs2150304327
|
|
NM_004453.4(ETFDH):c.488-1G>T
|
rs2150306551
|
|
NM_004453.4(ETFDH):c.524G>A (p.Arg175His)
|
rs121964955
|
|
NM_004453.4(ETFDH):c.736G>A (p.Glu246Lys)
|
|
|
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly)
|
rs755907131
|
|
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)
|
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
NM_004937.3(CTNS):c.206_210del (p.Ile69fs)
|
rs879758262
|
|
NM_004937.3(CTNS):c.225+3A>T
|
|
|
NM_004937.3(CTNS):c.292dup (p.Thr98fs)
|
rs786204434
|
|
NM_004937.3(CTNS):c.314_317del (p.His105fs)
|
|
|
NM_004937.3(CTNS):c.323del (p.Gln108fs)
|
rs879255615
|
|
NM_004937.3(CTNS):c.329+2T>C
|
rs955833453
|
|
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)
|
rs1555558099
|
|
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)
|
rs1436441738
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)
|
rs1597654770
|
|
NM_004937.3(CTNS):c.61+5G>A
|
rs1407498555
|
|
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)
|
rs760256854
|
|
NM_004937.3(CTNS):c.61_61+2del
|
rs2075652654
|
|
NM_004937.3(CTNS):c.681G>A (p.Glu227=)
|
rs778414542
|
|
NM_004937.3(CTNS):c.682-1G>T
|
rs1057516771
|
|
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)
|
rs1555563982
|
|
NM_004937.3(CTNS):c.696dup (p.Val233fs)
|
rs113994209
|
|
NM_004937.3(CTNS):c.699_700del (p.Ser234fs)
|
rs766981777
|
|
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)
|
rs763089013
|
|
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)
|
rs759623796
|
|
NM_004937.3(CTNS):c.809_811del (p.Ser270del)
|
rs786204632
|
|
NM_004937.3(CTNS):c.829dup (p.Thr277fs)
|
rs752919200
|
|
NM_004937.3(CTNS):c.853-2A>G
|
rs1475322504
|
|
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)
|
rs776842972
|
|
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)
|
rs917630768
|
|
NM_004937.3(CTNS):c.926dup (p.Ser310fs)
|
rs786204420
|
|
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)
|
rs121908128
|
|
NM_004937.3(CTNS):c.971-12G>A
|
rs375952052
|
|
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
|
|
|
NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe)
|
rs1569017205
|
|
NM_004975.4(KCNB1):c.1136G>T (p.Gly379Val)
|
rs1984249721
|
|
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
|
|
|
NM_005327.7(HADH):c.419+1G>A
|
|
|
NM_005327.7(HADH):c.587del (p.Ser196fs)
|
rs745727504
|
|
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)
|
rs397515485
|
|
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del)
|
rs80338739
|
|
NM_005629.4(SLC6A8):c.[1429_1430delinsAG];[1429_1596+39del]
|
|
|
NM_005957.5(MTHFR):c.552del (p.Ser184fs)
|
rs1644354028
|
|
NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys)
|
rs746291728
|
|
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter)
|
rs730880349
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys)
|
rs368949613
|
|
NM_014049.5(ACAD9):c.1278+1G>A
|
rs766305690
|
|
NM_014049.5(ACAD9):c.184dup (p.Asp62fs)
|
rs1935194749
|
|
NM_014049.5(ACAD9):c.359del (p.Phe120fs)
|
rs863224844
|
|
NM_014251.3(SLC25A13):c.1063C>G (p.Arg355Gly)
|
rs758827458
|
|
NM_014251.3(SLC25A13):c.1095del (p.Phe365fs)
|
rs1794540164
|
|
NM_014251.3(SLC25A13):c.1193T>A (p.Leu398Ter)
|
|
|
NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter)
|
rs540149539
|
|
NM_014251.3(SLC25A13):c.1610_1612delinsAT (p.Leu537fs)
|
|
|
NM_014251.3(SLC25A13):c.1736G>A (p.Trp579Ter)
|
|
|
NM_014251.3(SLC25A13):c.1800C>A (p.Tyr600Ter)
|
|
|
NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter)
|
rs80338727
|
|
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)
|
rs80338719
|
|
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)
|
rs973986984
|
|
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)
|
rs80338720
|
|
NM_014252.4(SLC25A15):c.113_116dup (p.Phe40fs)
|
rs756522093
|
|
NM_014252.4(SLC25A15):c.265C>T (p.Gln89Ter)
|
|
|
NM_014252.4(SLC25A15):c.525dup (p.Thr176fs)
|
|
|
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del)
|
rs202247803
|
|
NM_014252.4(SLC25A15):c.95_96dup (p.Met33fs)
|
|
|
NM_015506.3(MMACHC):c.123dup (p.Pro42fs)
|
rs2149323203
|
|
NM_015506.3(MMACHC):c.228_231del (p.Asp77fs)
|
|
|
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)
|
rs556977618
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
NM_015506.3(MMACHC):c.315C>A (p.Tyr105Ter)
|
rs528744719
|
|
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)
|
rs528744719
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.430-2A>G
|
|
|
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>A (p.Trp157Ter)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)
|
rs1481893137
|
|
NM_015506.3(MMACHC):c.500del (p.Pro167fs)
|
rs1553162918
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)
|
rs1305170860
|
|
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs)
|
rs1553162934
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro)
|
rs1233135084
|
|
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter)
|
rs1399932916
|
|
NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter)
|
rs796051997
|
|
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.626dup (p.Thr210fs)
|
rs1570833527
|
|
NM_015506.3(MMACHC):c.634del (p.Gln212fs)
|
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
NM_015506.3(MMACHC):c.81+1G>A
|
rs745366624
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter)
|
rs1570829502
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)
|
rs118204047
|
|
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)
|
|
|
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)
|
rs886039425
|
|
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)
|
rs397509361
|
|
NM_016373.4(WWOX):c.107+1G>A
|
rs1300924648
|
|
NM_016373.4(WWOX):c.730C>T (p.Gln244Ter)
|
rs752354290
|
|
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)
|
rs779151199
|
|
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)
|
rs398124350
|
|
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs)
|
rs796051985
|
|
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)
|
rs762463137
|
|
NM_020166.5(MCCC1):c.1378-2A>G
|
|
|
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)
|
|
|
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs)
|
rs1394547323
|
|
NM_020166.5(MCCC1):c.1750C>T (p.Gln584Ter)
|
|
|
NM_020166.5(MCCC1):c.1882G>T (p.Glu628Ter)
|
|
|
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
|
rs746267545
|
|
NM_020166.5(MCCC1):c.558del (p.Gln186fs)
|
rs1212517901
|
|
NM_020166.5(MCCC1):c.640_641delGG
|
rs886058209
|
|
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter)
|
rs779412317
|
|
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)
|
rs150862707
|
|
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)
|
|
|
NM_022132.5(MCCC2):c.1144_1147inv (p.Lys382_Lys383delinsPheTer)
|
|
|
NM_022132.5(MCCC2):c.384-2A>G
|
rs1745476784
|
|
NM_022132.5(MCCC2):c.512-1G>A
|
rs1282502867
|
|
NM_022132.5(MCCC2):c.517dup (p.Ser173fs)
|
rs587776533
|
|
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)
|
rs780011606
|
|
NM_022132.5(MCCC2):c.735dup (p.Val247fs)
|
rs770769655
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
|
rs1583595091
|
|
NM_052845.4(MMAB):c.349-1G>C
|
rs864309510
|
|
NM_052845.4(MMAB):c.367del (p.Asp123fs)
|
rs1387128853
|
|
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)
|
rs1555274496
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
|
NM_054012.4(ASS1):c.1048C>T (p.Gln350Ter)
|
rs2118880266
|
|
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val)
|
rs121908647
|
|
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)
|
rs1474017319
|
|
NM_054012.4(ASS1):c.174+1G>A
|
rs748264993
|
|
NM_054012.4(ASS1):c.271A>C (p.Thr91Pro)
|
|
|
NM_054012.4(ASS1):c.299del (p.Arg100fs)
|
|
|
NM_054012.4(ASS1):c.364-2A>C
|
|
|
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)
|
rs771794639
|
|
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter)
|
rs1057516339
|
|
NM_054012.4(ASS1):c.421-2A>G
|
rs751930594
|
|
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)
|
rs786204648
|
|
NM_054012.4(ASS1):c.460_467del (p.Phe154fs)
|
rs1004492719
|
|
NM_054012.4(ASS1):c.484dup (p.Glu162fs)
|
rs1313340299
|
|
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)
|
rs121908638
|
|
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)
|
rs376371866
|
|
NM_054012.4(ASS1):c.773+1G>A
|
rs982830431
|
|
NM_054012.4(ASS1):c.774-2A>G
|
rs1588496214
|
|
NM_054012.4(ASS1):c.794G>A (p.Arg265His)
|
rs398123131
|
|
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)
|
rs762387914
|
|
NM_054012.4(ASS1):c.815G>A (p.Arg272His)
|
rs768215008
|
|
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)
|
rs549085827
|
|
NM_054012.4(ASS1):c.848del (p.Glu283fs)
|
|
|
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)
|
rs1301613270
|
|
NM_054012.4(ASS1):c.951del (p.Phe317fs)
|
rs775791516
|
|
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)
|
rs1554725034
|
|
NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)
|
|
|
NM_153006.3(NAGS):c.1268+2T>C
|
rs202041339
|
|
NM_153006.3(NAGS):c.622C>T (p.Arg208Ter)
|
rs762205848
|
|
NM_153006.3(NAGS):c.916-2A>T
|
rs730880267
|
|
NM_172250.3(MMAA):c.260_267dup (p.Tyr90fs)
|
|
|
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)
|
rs864309727
|
|
NM_172250.3(MMAA):c.450dup (p.Pro151fs)
|
rs754973022
|
|
NM_172250.3(MMAA):c.54del (p.Ala19fs)
|
|
|
NM_172250.3(MMAA):c.551dup (p.Cys184fs)
|
rs1553958159
|
|
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)
|
rs796051993
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
NM_172250.3(MMAA):c.820-1G>A
|
rs1553959017
|
|
NM_174878.3(CLRN1):c.149C>A (p.Ser50Ter)
|
|
|
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)
|
rs746523071
|
|
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)
|
rs376155416
|
|
NM_174878.3(CLRN1):c.591del (p.Phe197fs)
|
|
|
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)
|
rs398124560
|
|
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs)
|
rs869312129
|
|
NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter)
|
rs371117671
|
|
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)
|
rs398124573
|
|
NM_183050.4(BCKDHB):c.348del (p.Asp117fs)
|
rs1400121541
|
|
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)
|
rs751953459
|
|
NM_183050.4(BCKDHB):c.477+1G>A
|
rs1002472211
|
|
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter)
|
rs1057516799
|
|
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)
|
rs1772735425
|
|
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)
|
rs749033513
|
|
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)
|
rs398124581
|
|
NM_183050.4(BCKDHB):c.550del (p.Ser184fs)
|
|
|
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)
|
rs1772747408
|
|
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)
|
rs398124587
|
|
NM_183050.4(BCKDHB):c.803_806del (p.Glu268fs)
|
|
|
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)
|
|
|
NM_183050.4(BCKDHB):c.885del (p.Gly296fs)
|
rs398124599
|
|
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs)
|
rs398124601
|
|
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)
|
rs398124601
|
|
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)
|
rs1224101411
|
|
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
|
rs730882246
|
|
NM_201548.5(CERKL):c.1073+3_1073+6del
|
rs1553513437
|
|
NM_201548.5(CERKL):c.1086_1087del (p.Cys362_Glu363delinsTer)
|
rs776727320
|
|
NM_201548.5(CERKL):c.1389_1392dup (p.Thr465fs)
|
rs1026405158
|
|
NM_201548.5(CERKL):c.1404del (p.Glu468_Val469insTer)
|
rs1238123416
|
|
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)
|
rs569826109
|
|
NM_201548.5(CERKL):c.334C>T (p.Gln112Ter)
|
rs772748858
|
|
NM_201548.5(CERKL):c.450_451del (p.Ile150fs)
|
rs1574489337
|
|
NM_201548.5(CERKL):c.677+1G>A
|
rs1005130980
|
|
NM_201548.5(CERKL):c.954_961dup (p.Ser321fs)
|
rs758116997
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter)
|
rs1183957540
|
|
NM_206933.4(USH2A):c.1026_1029del (p.Ser343fs)
|
rs1458938381
|
|
NM_206933.4(USH2A):c.10388-1G>A
|
rs1553261478
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)
|
rs111033418
|
|
NM_206933.4(USH2A):c.10817T>C (p.Leu3606Pro)
|
|
|
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)
|
rs41314534
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.11146C>T (p.Gln3716Ter)
|
rs771260365
|
|
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)
|
rs749726310
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
NM_206933.4(USH2A):c.1143+1G>A
|
rs397517974
|
|
NM_206933.4(USH2A):c.11533C>T (p.Gln3845Ter)
|
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.1190T>A (p.Ile397Lys)
|
|
|
NM_206933.4(USH2A):c.12067-1G>C
|
rs397517977
|
|
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg)
|
rs908265742
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
NM_206933.4(USH2A):c.12172_12174delinsTAAA (p.Leu4058Ter)
|
|
|
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)
|
rs988693758
|
|
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
|
rs398124618
|
|
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)
|
rs1657997730
|
|
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
|
rs1657996197
|
|
NM_206933.4(USH2A):c.12394del (p.Leu4132fs)
|
rs1558049084
|
|
NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter)
|
rs1657976232
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)
|
rs1657965422
|
|
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)
|
rs762159022
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.13040_13062delinsTCAGAAGTCA (p.Thr4347fs)
|
rs1657950450
|
|
NM_206933.4(USH2A):c.13128G>A (p.Trp4376Ter)
|
rs1349682845
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)
|
rs1057517533
|
|
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter)
|
rs111033417
|
|
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)
|
rs1293619630
|
|
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)
|
rs1485393201
|
|
NM_206933.4(USH2A):c.13700del (p.Leu4567fs)
|
rs1212608410
|
|
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026
|
|
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294
|
|
NM_206933.4(USH2A):c.14133+1G>A
|
|
|
NM_206933.4(USH2A):c.14175G>A (p.Trp4725Ter)
|
rs886042722
|
|
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)
|
rs527236126
|
|
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)
|
rs727504867
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.14439_14454del (p.Asn4812_Cys4813insTer)
|
rs1656942613
|
|
NM_206933.4(USH2A):c.14586T>G (p.Tyr4862Ter)
|
|
|
NM_206933.4(USH2A):c.14787del (p.Glu4930fs)
|
rs34713174
|
|
NM_206933.4(USH2A):c.14802C>G (p.Tyr4934Ter)
|
|
|
NM_206933.4(USH2A):c.14831del (p.Leu4944fs)
|
rs2102636085
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
NM_206933.4(USH2A):c.15053-2A>G
|
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
NM_206933.4(USH2A):c.15104_15105del (p.Thr5035fs)
|
rs2102630677
|
|
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys)
|
rs767209934
|
|
NM_206933.4(USH2A):c.15403del (p.Thr5135fs)
|
rs770984400
|
|
NM_206933.4(USH2A):c.1618C>T (p.Gln540Ter)
|
rs1558036860
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)
|
rs2037013894
|
|
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)
|
rs868562952
|
|
NM_206933.4(USH2A):c.2035G>T (p.Gly679Ter)
|
rs367693972
|
|
NM_206933.4(USH2A):c.2310dup (p.Glu771fs)
|
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer)
|
rs2036063892
|
|
NM_206933.4(USH2A):c.2440C>T (p.Gln814Ter)
|
|
|
NM_206933.4(USH2A):c.2525dup (p.Leu843fs)
|
rs1403136669
|
|
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)
|
rs1438734382
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3251G>A (p.Trp1084Ter)
|
rs1363689100
|
|
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs)
|
rs748369458
|
|
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)
|
rs397518013
|
|
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)
|
rs397518014
|
|
NM_206933.4(USH2A):c.3589del (p.Ser1197fs)
|
rs1553313810
|
|
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)
|
rs1294733964
|
|
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)
|
rs767797828
|
|
NM_206933.4(USH2A):c.3680dup (p.Cys1228fs)
|
rs1553313793
|
|
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
|
rs2034938852
|
|
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)
|
rs756623509
|
|
NM_206933.4(USH2A):c.3932C>A (p.Ser1311Ter)
|
|
|
NM_206933.4(USH2A):c.4056G>A (p.Trp1352Ter)
|
rs2034899344
|
|
NM_206933.4(USH2A):c.4125del (p.Tyr1376fs)
|
rs1064793506
|
|
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)
|
rs1308702971
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
NM_206933.4(USH2A):c.4251+1G>T
|
rs878853405
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter)
|
rs869312179
|
|
NM_206933.4(USH2A):c.4628-2A>T
|
|
|
NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter)
|
rs2032459600
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_206933.4(USH2A):c.5079G>A (p.Trp1693Ter)
|
rs2032072206
|
|
NM_206933.4(USH2A):c.5168G>A (p.Gly1723Glu)
|
|
|
NM_206933.4(USH2A):c.5218del (p.Ile1740fs)
|
rs2032019895
|
|
NM_206933.4(USH2A):c.55del (p.Met19fs)
|
rs2039692173
|
|
NM_206933.4(USH2A):c.5603_5613del (p.Phe1868fs)
|
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_206933.4(USH2A):c.5835_5836dup (p.Arg1946fs)
|
rs1221017154
|
|
NM_206933.4(USH2A):c.5857+1G>C
|
rs2031604509
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.6029del (p.Val2010fs)
|
|
|
NM_206933.4(USH2A):c.6084T>A (p.Tyr2028Ter)
|
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6283del (p.Arg2095fs)
|
|
|
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)
|
rs111033268
|
|
NM_206933.4(USH2A):c.6325+1G>A
|
rs1293202153
|
|
NM_206933.4(USH2A):c.632G>A (p.Trp211Ter)
|
rs727504893
|
|
NM_206933.4(USH2A):c.633G>A (p.Trp211Ter)
|
|
|
NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter)
|
rs55958016
|
|
NM_206933.4(USH2A):c.6485+5G>A
|
rs1668240410
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)
|
rs727503723
|
|
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)
|
rs1667472317
|
|
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)
|
rs397518029
|
|
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)
|
rs1553274448
|
|
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)
|
rs1558151555
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)
|
rs1553274424
|
|
NM_206933.4(USH2A):c.7594+1G>A
|
|
|
NM_206933.4(USH2A):c.775_776del (p.Ser259fs)
|
rs2038566220
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
|
|
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
|
rs397518036
|
|
NM_206933.4(USH2A):c.8224-1G>C
|
rs1664846558
|
|
NM_206933.4(USH2A):c.8232del (p.Thr2743_Trp2744insTer)
|
rs1664846221
|
|
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)
|
rs1553272201
|
|
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
NM_206933.4(USH2A):c.852_853del
|
rs1188025733
|
|
NM_206933.4(USH2A):c.8584C>T (p.Gln2862Ter)
|
rs748863844
|
|
NM_206933.4(USH2A):c.8628G>A (p.Trp2876Ter)
|
rs1180119632
|
|
NM_206933.4(USH2A):c.8682-1G>A
|
rs1553271001
|
|
NM_206933.4(USH2A):c.8682-3_8682-1delinsAA
|
|
|
NM_206933.4(USH2A):c.8723_8724del (p.Val2908fs)
|
rs2102440742
|
|
NM_206933.4(USH2A):c.8906C>G (p.Ser2969Ter)
|
|
|
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)
|
rs1553268582
|
|
NM_206933.4(USH2A):c.895del (p.Gln299fs)
|
rs1338169194
|
|
NM_206933.4(USH2A):c.89T>A (p.Leu30Ter)
|
|
|
NM_206933.4(USH2A):c.9120G>A (p.Trp3040Ter)
|
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)
|
rs779572631
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
NM_206933.4(USH2A):c.9371+1G>A
|
rs41308425
|
|
NM_206933.4(USH2A):c.9371+1G>T
|
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9449G>A (p.Trp3150Ter)
|
|
|
NM_206933.4(USH2A):c.9504C>A (p.Cys3168Ter)
|
rs2102796365
|
|
NM_206933.4(USH2A):c.9811del (p.Met3271fs)
|
rs767328784
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|