NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
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.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
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_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
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_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_000071.3(CBS):c.362G>A (p.Arg121His)
|
rs770095972
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)
|
rs60376624
|
0.00009
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00008
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)
|
rs121964980
|
0.00006
|
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)
|
rs767635052
|
0.00004
|
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)
|
rs121908640
|
0.00004
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)
|
rs184148104
|
0.00003
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)
|
rs121964966
|
0.00002
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)
|
rs1337929727
|
0.00001
|
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)
|
rs875989876
|
0.00001
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
NM_000045.4(ARG1):c.57+1G>A
|
rs587776539
|
0.00001
|
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)
|
rs374304304
|
0.00001
|
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)
|
rs764602422
|
0.00001
|
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)
|
rs1251538998
|
0.00001
|
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter)
|
rs750475071
|
0.00001
|
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)
|
rs281865440
|
0.00001
|
NM_000282.4(PCCA):c.231+1G>C
|
rs972937270
|
0.00001
|
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter)
|
rs1251623714
|
0.00001
|
NM_000016.6(ACADM):c.193dup (p.Ala65fs)
|
|
|
NM_000016.6(ACADM):c.212del (p.Gly71fs)
|
|
|
NM_000016.6(ACADM):c.321_322del (p.Leu107fs)
|
|
|
NM_000016.6(ACADM):c.348T>A (p.Cys116Ter)
|
|
|
NM_000016.6(ACADM):c.467del (p.Cys156fs)
|
|
|
NM_000016.6(ACADM):c.556_557del (p.Asn186fs)
|
|
|
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter)
|
|
|
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)
|
|
|
NM_000017.4(ACADS):c.125_126del (p.Leu42fs)
|
|
|
NM_000017.4(ACADS):c.224del (p.Gly75fs)
|
|
|
NM_000017.4(ACADS):c.423_424del (p.Pro142fs)
|
|
|
NM_000017.4(ACADS):c.518_519insCTGCT (p.Glu173fs)
|
|
|
NM_000017.4(ACADS):c.54dup (p.Pro19fs)
|
|
|
NM_000017.4(ACADS):c.607A>T (p.Arg203Ter)
|
|
|
NM_000017.4(ACADS):c.711del (p.Thr238fs)
|
|
|
NM_000017.4(ACADS):c.872_873del (p.Val291fs)
|
|
|
NM_000017.4(ACADS):c.916A>T (p.Lys306Ter)
|
|
|
NM_000018.4(ACADVL):c.1073del (p.Lys358fs)
|
|
|
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)
|
rs118204018
|
|
NM_000018.4(ACADVL):c.1505del (p.Leu502fs)
|
|
|
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
|
|
|
NM_000018.4(ACADVL):c.1542_1543insA (p.Leu515fs)
|
|
|
NM_000018.4(ACADVL):c.1632del (p.Thr545fs)
|
|
|
NM_000018.4(ACADVL):c.1748C>A (p.Ser583Ter)
|
|
|
NM_000018.4(ACADVL):c.267del (p.Tyr90fs)
|
|
|
NM_000018.4(ACADVL):c.475del (p.Gln159fs)
|
|
|
NM_000018.4(ACADVL):c.589del (p.Gln197fs)
|
|
|
NM_000018.4(ACADVL):c.602_605del (p.Tyr201fs)
|
|
|
NM_000018.4(ACADVL):c.645T>A (p.Cys215Ter)
|
|
|
NM_000018.4(ACADVL):c.658_659del (p.Ser220fs)
|
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000018.4(ACADVL):c.850_851insC (p.Val284fs)
|
|
|
NM_000018.4(ACADVL):c.873_874del (p.Thr292fs)
|
|
|
NM_000045.4(ARG1):c.140_141del (p.Val47fs)
|
|
|
NM_000045.4(ARG1):c.143_146del (p.Lys48fs)
|
|
|
NM_000045.4(ARG1):c.145_146insC (p.Asp49fs)
|
|
|
NM_000045.4(ARG1):c.148_149insTTATGTAGTGCAAC (p.Tyr50delinsPheMetTer)
|
|
|
NM_000045.4(ARG1):c.182_184delinsG (p.Asp61fs)
|
|
|
NM_000045.4(ARG1):c.432_448del (p.Val145fs)
|
|
|
NM_000045.4(ARG1):c.459del (p.Gly154fs)
|
|
|
NM_000045.4(ARG1):c.637G>T (p.Glu213Ter)
|
|
|
NM_000045.4(ARG1):c.661G>T (p.Gly221Ter)
|
|
|
NM_000048.4(ASL):c.117del (p.Gln40fs)
|
|
|
NM_000048.4(ASL):c.118_119del (p.Gln40fs)
|
|
|
NM_000048.4(ASL):c.143del (p.Gly48fs)
|
|
|
NM_000048.4(ASL):c.243_244del (p.Asn82fs)
|
|
|
NM_000048.4(ASL):c.256G>T (p.Glu86Ter)
|
rs1786532924
|
|
NM_000048.4(ASL):c.371G>A (p.Trp124Ter)
|
rs1786558070
|
|
NM_000048.4(ASL):c.372G>A (p.Trp124Ter)
|
rs1786558148
|
|
NM_000048.4(ASL):c.379C>T (p.Gln127Ter)
|
rs1786558577
|
|
NM_000048.4(ASL):c.398C>A (p.Ser133Ter)
|
|
|
NM_000048.4(ASL):c.403_404insCAAG (p.Leu135fs)
|
|
|
NM_000048.4(ASL):c.493C>T (p.Gln165Ter)
|
|
|
NM_000048.4(ASL):c.57del (p.Ile20fs)
|
|
|
NM_000048.4(ASL):c.698_699delinsA (p.Thr233fs)
|
|
|
NM_000048.4(ASL):c.721G>T (p.Glu241Ter)
|
rs1786746301
|
|
NM_000048.4(ASL):c.736del (p.Ala246fs)
|
|
|
NM_000048.4(ASL):c.814C>T (p.Gln272Ter)
|
rs1786750679
|
|
NM_000048.4(ASL):c.999_1000del (p.Phe333fs)
|
|
|
NM_000071.3(CBS):c.1075A>T (p.Lys359Ter)
|
|
|
NM_000071.3(CBS):c.1179del (p.Lys394fs)
|
|
|
NM_000071.3(CBS):c.1210G>T (p.Glu404Ter)
|
rs1981682654
|
|
NM_000071.3(CBS):c.1288_1289del (p.Thr430fs)
|
|
|
NM_000071.3(CBS):c.218_230del (p.Ser73fs)
|
|
|
NM_000071.3(CBS):c.430G>T (p.Glu144Ter)
|
rs121964966
|
|
NM_000071.3(CBS):c.503_504del (p.Val168fs)
|
|
|
NM_000071.3(CBS):c.529A>T (p.Lys177Ter)
|
rs1982601982
|
|
NM_000071.3(CBS):c.588del (p.Arg196fs)
|
|
|
NM_000071.3(CBS):c.606dup (p.His203fs)
|
|
|
NM_000071.3(CBS):c.637G>T (p.Glu213Ter)
|
rs758703098
|
|
NM_000071.3(CBS):c.715G>T (p.Glu239Ter)
|
rs1982493665
|
|
NM_000071.3(CBS):c.95delinsATAAGAGACAGT (p.Ser32fs)
|
|
|
NM_000108.5(DLD):c.1036A>T (p.Lys346Ter)
|
|
|
NM_000108.5(DLD):c.1105G>T (p.Glu369Ter)
|
rs2032293119
|
|
NM_000108.5(DLD):c.1109_1112dup (p.Ile371fs)
|
|
|
NM_000108.5(DLD):c.1119T>A (p.Cys373Ter)
|
rs2032293586
|
|
NM_000108.5(DLD):c.1187_1188del (p.His396fs)
|
|
|
NM_000108.5(DLD):c.1318A>T (p.Lys440Ter)
|
|
|
NM_000108.5(DLD):c.19dup (p.Val7fs)
|
|
|
NM_000108.5(DLD):c.325A>T (p.Arg109Ter)
|
rs2031930307
|
|
NM_000108.5(DLD):c.383delinsTA (p.Ser128fs)
|
|
|
NM_000108.5(DLD):c.491_492insGTATAAGAGACAG (p.Thr165fs)
|
|
|
NM_000108.5(DLD):c.748G>T (p.Gly250Ter)
|
rs2032247686
|
|
NM_000108.5(DLD):c.801del (p.Lys267fs)
|
|
|
NM_000108.5(DLD):c.802C>T (p.Gln268Ter)
|
rs2032249629
|
|
NM_000108.5(DLD):c.829A>T (p.Lys277Ter)
|
|
|
NM_000108.5(DLD):c.898A>T (p.Lys300Ter)
|
|
|
NM_000108.5(DLD):c.904G>T (p.Glu302Ter)
|
rs2032281944
|
|
NM_000108.5(DLD):c.936C>A (p.Cys312Ter)
|
rs2032282970
|
|
NM_000137.4(FAH):c.192+1G>T
|
rs786204683
|
|
NM_000137.4(FAH):c.244A>T (p.Arg82Ter)
|
|
|
NM_000137.4(FAH):c.394C>T (p.Gln132Ter)
|
rs2041155591
|
|
NM_000137.4(FAH):c.580A>T (p.Lys194Ter)
|
|
|
NM_000137.4(FAH):c.835C>T (p.Gln279Ter)
|
rs2041255686
|
|
NM_000137.4(FAH):c.910A>T (p.Lys304Ter)
|
rs2041271608
|
|
NM_000137.4(FAH):c.919G>T (p.Gly307Ter)
|
rs2041294652
|
|
NM_000137.4(FAH):c.971G>A (p.Trp324Ter)
|
rs2041316956
|
|
NM_000159.4(GCDH):c.1067T>A (p.Leu356Ter)
|
rs1970710230
|
|
NM_000159.4(GCDH):c.124A>T (p.Lys42Ter)
|
rs1252148225
|
|
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter)
|
rs1970564107
|
|
NM_000159.4(GCDH):c.197_198del (p.Leu66fs)
|
|
|
NM_000159.4(GCDH):c.229G>T (p.Glu77Ter)
|
rs1302922191
|
|
NM_000159.4(GCDH):c.304G>T (p.Glu102Ter)
|
rs976647697
|
|
NM_000159.4(GCDH):c.635G>A (p.Trp212Ter)
|
rs1970671544
|
|
NM_000159.4(GCDH):c.870_871del (p.Asn291fs)
|
|
|
NM_000159.4(GCDH):c.907G>T (p.Gly303Ter)
|
rs1970694961
|
|
NM_000159.4(GCDH):c.988C>T (p.Gln330Ter)
|
rs1970707032
|
|
NM_000170.3(GLDC):c.1012G>T (p.Glu338Ter)
|
rs1818692381
|
|
NM_000170.3(GLDC):c.1039A>T (p.Arg347Ter)
|
rs555359738
|
|
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter)
|
rs1818407147
|
|
NM_000170.3(GLDC):c.1299del (p.Phe434fs)
|
|
|
NM_000170.3(GLDC):c.1333_1334del (p.Val446fs)
|
|
|
NM_000170.3(GLDC):c.1339A>T (p.Lys447Ter)
|
rs1818405533
|
|
NM_000170.3(GLDC):c.1363C>T (p.Gln455Ter)
|
rs1818404451
|
|
NM_000170.3(GLDC):c.1506_1507insCACTT (p.Glu503fs)
|
|
|
NM_000170.3(GLDC):c.1510G>T (p.Glu504Ter)
|
rs1038321056
|
|
NM_000170.3(GLDC):c.1584C>A (p.Tyr528Ter)
|
|
|
NM_000170.3(GLDC):c.1619_1621delinsT (p.Lys540fs)
|
|
|
NM_000170.3(GLDC):c.1768G>T (p.Gly590Ter)
|
rs1818289261
|
|
NM_000170.3(GLDC):c.1774C>T (p.Gln592Ter)
|
rs1818289122
|
|
NM_000170.3(GLDC):c.1800_1801insAGACAGT (p.Asp601delinsArgGlnTer)
|
|
|
NM_000170.3(GLDC):c.1805dup (p.Leu602fs)
|
|
|
NM_000170.3(GLDC):c.1811_1812insCACTCAGCAGCAG (p.Glu604fs)
|
|
|
NM_000170.3(GLDC):c.1825_1826del (p.Asp609fs)
|
|
|
NM_000170.3(GLDC):c.1873G>T (p.Gly625Ter)
|
|
|
NM_000170.3(GLDC):c.2014A>T (p.Lys672Ter)
|
rs1563836857
|
|
NM_000170.3(GLDC):c.2017del (p.Tyr673fs)
|
|
|
NM_000170.3(GLDC):c.2097C>G (p.Tyr699Ter)
|
rs149694787
|
|
NM_000170.3(GLDC):c.2118_2119del (p.Phe706fs)
|
|
|
NM_000170.3(GLDC):c.2189del (p.Asn730fs)
|
|
|
NM_000170.3(GLDC):c.2212_2218del (p.Cys738fs)
|
|
|
NM_000170.3(GLDC):c.2366del (p.Lys789fs)
|
|
|
NM_000170.3(GLDC):c.2517C>A (p.Tyr839Ter)
|
rs1817497939
|
|
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter)
|
rs765893483
|
|
NM_000170.3(GLDC):c.2680del (p.Thr894fs)
|
|
|
NM_000170.3(GLDC):c.2725G>T (p.Glu909Ter)
|
rs1817123754
|
|
NM_000170.3(GLDC):c.2729C>A (p.Ser910Ter)
|
rs759933539
|
|
NM_000170.3(GLDC):c.2743G>T (p.Glu915Ter)
|
|
|
NM_000170.3(GLDC):c.2800G>T (p.Glu934Ter)
|
rs1817121202
|
|
NM_000170.3(GLDC):c.302T>A (p.Leu101Ter)
|
rs1819702000
|
|
NM_000170.3(GLDC):c.315_316del (p.Lys106fs)
|
|
|
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter)
|
rs2129948971
|
|
NM_000170.3(GLDC):c.433C>T (p.Gln145Ter)
|
rs1819059889
|
|
NM_000170.3(GLDC):c.447del (p.Asn150fs)
|
|
|
NM_000170.3(GLDC):c.466G>T (p.Gly156Ter)
|
rs1819058509
|
|
NM_000170.3(GLDC):c.493C>T (p.Gln165Ter)
|
|
|
NM_000170.3(GLDC):c.493del (p.Gln165fs)
|
|
|
NM_000170.3(GLDC):c.527T>A (p.Leu176Ter)
|
|
|
NM_000170.3(GLDC):c.548_550delinsA (p.Val183fs)
|
|
|
NM_000170.3(GLDC):c.552T>A (p.Cys184Ter)
|
rs759699162
|
|
NM_000170.3(GLDC):c.622C>T (p.Gln208Ter)
|
rs1163351205
|
|
NM_000170.3(GLDC):c.633C>A (p.Tyr211Ter)
|
rs776895767
|
|
NM_000170.3(GLDC):c.734_735delinsT (p.Glu245fs)
|
|
|
NM_000170.3(GLDC):c.74del (p.Gly25fs)
|
|
|
NM_000170.3(GLDC):c.754del (p.Met252fs)
|
|
|
NM_000170.3(GLDC):c.773_774insGACAGTA (p.Asp258fs)
|
|
|
NM_000170.3(GLDC):c.853C>T (p.Gln285Ter)
|
rs1818703974
|
|
NM_000170.3(GLDC):c.896T>A (p.Leu299Ter)
|
rs1818695432
|
|
NM_000170.3(GLDC):c.900C>A (p.Cys300Ter)
|
rs143256976
|
|
NM_000170.3(GLDC):c.951_952del (p.Gln318fs)
|
|
|
NM_000170.3(GLDC):c.959_960del (p.Phe320fs)
|
|
|
NM_000182.5(HADHA):c.1168A>T (p.Lys390Ter)
|
rs1669918554
|
|
NM_000182.5(HADHA):c.1235_1236del (p.Val412fs)
|
|
|
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
|
|
|
NM_000182.5(HADHA):c.1513A>T (p.Lys505Ter)
|
rs1669632177
|
|
NM_000182.5(HADHA):c.1519_1520insCTTT (p.Gln507fs)
|
|
|
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
|
|
|
NM_000182.5(HADHA):c.1891A>T (p.Lys631Ter)
|
|
|
NM_000182.5(HADHA):c.1944_1945del (p.Asn649fs)
|
|
|
NM_000182.5(HADHA):c.284_288del (p.Pro95fs)
|
|
|
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter)
|
rs1670695733
|
|
NM_000182.5(HADHA):c.359C>A (p.Ser120Ter)
|
rs1670695099
|
|
NM_000182.5(HADHA):c.439G>T (p.Gly147Ter)
|
rs1460602961
|
|
NM_000182.5(HADHA):c.451G>T (p.Glu151Ter)
|
rs1670693281
|
|
NM_000182.5(HADHA):c.474C>A (p.Tyr158Ter)
|
rs11552518
|
|
NM_000182.5(HADHA):c.566_567delinsA (p.Pro189fs)
|
|
|
NM_000182.5(HADHA):c.640A>T (p.Lys214Ter)
|
rs1670589674
|
|
NM_000182.5(HADHA):c.667G>T (p.Glu223Ter)
|
rs1670587952
|
|
NM_000182.5(HADHA):c.717C>A (p.Tyr239Ter)
|
|
|
NM_000182.5(HADHA):c.761del (p.Lys254fs)
|
|
|
NM_000182.5(HADHA):c.859G>T (p.Glu287Ter)
|
rs1670172615
|
|
NM_000182.5(HADHA):c.862G>T (p.Glu288Ter)
|
rs1670172561
|
|
NM_000182.5(HADHA):c.960T>A (p.Tyr320Ter)
|
rs1670128490
|
|
NM_000187.4(HGD):c.148_149del (p.Thr50fs)
|
|
|
NM_000187.4(HGD):c.170del (p.Lys57fs)
|
|
|
NM_000187.4(HGD):c.186T>A (p.Tyr62Ter)
|
|
|
NM_000187.4(HGD):c.302_303insTG (p.Glu101fs)
|
|
|
NM_000187.4(HGD):c.626_635del (p.Glu209fs)
|
|
|
NM_000187.4(HGD):c.662T>A (p.Leu221Ter)
|
|
|
NM_000187.4(HGD):c.747C>A (p.Tyr249Ter)
|
|
|
NM_000187.4(HGD):c.748del (p.Gln250fs)
|
|
|
NM_000187.4(HGD):c.824del (p.Tyr275fs)
|
|
|
NM_000191.3(HMGCL):c.275T>A (p.Leu92Ter)
|
rs1638620864
|
|
NM_000191.3(HMGCL):c.276_278delinsT (p.Leu92fs)
|
|
|
NM_000191.3(HMGCL):c.308del (p.Tyr103fs)
|
|
|
NM_000191.3(HMGCL):c.331A>T (p.Lys111Ter)
|
rs1638619737
|
|
NM_000191.3(HMGCL):c.594C>G (p.Tyr198Ter)
|
rs139799938
|
|
NM_000191.3(HMGCL):c.714T>G (p.Tyr238Ter)
|
rs1638446662
|
|
NM_000191.3(HMGCL):c.718C>T (p.Gln240Ter)
|
rs1638446514
|
|
NM_000255.4(MMUT):c.1092C>A (p.Tyr364Ter)
|
|
|
NM_000255.4(MMUT):c.1171_1172delinsT (p.Asp391fs)
|
|
|
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter)
|
rs1767555126
|
|
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter)
|
rs1346775255
|
|
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter)
|
rs1767479902
|
|
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter)
|
rs1767478925
|
|
NM_000255.4(MMUT):c.1469del (p.Asn490fs)
|
|
|
NM_000255.4(MMUT):c.1525_1526del (p.Val510fs)
|
|
|
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter)
|
rs748358807
|
|
NM_000255.4(MMUT):c.1590_1591del (p.Glu531fs)
|
|
|
NM_000255.4(MMUT):c.1722_1723del (p.Glu575fs)
|
|
|
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter)
|
rs1767285621
|
|
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter)
|
rs1767240499
|
|
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter)
|
rs879253828
|
|
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter)
|
rs1767739242
|
|
NM_000255.4(MMUT):c.511A>T (p.Lys171Ter)
|
|
|
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)
|
rs200908035
|
|
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter)
|
rs1767726007
|
|
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter)
|
rs1319034847
|
|
NM_000255.4(MMUT):c.763A>T (p.Lys255Ter)
|
|
|
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter)
|
rs1767683238
|
|
NM_000255.4(MMUT):c.839dup (p.Leu281fs)
|
rs2127419415
|
|
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter)
|
rs796052007
|
|
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter)
|
rs1767617149
|
|
NM_000255.4(MMUT):c.975del (p.Arg326fs)
|
|
|
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter)
|
rs1767615100
|
|
NM_000277.3(PAH):c.1081A>T (p.Lys361Ter)
|
|
|
NM_000277.3(PAH):c.1087A>T (p.Lys363Ter)
|
|
|
NM_000277.3(PAH):c.1111A>T (p.Lys371Ter)
|
|
|
NM_000277.3(PAH):c.120_121del (p.Leu41fs)
|
|
|
NM_000277.3(PAH):c.148A>T (p.Lys50Ter)
|
|
|
NM_000277.3(PAH):c.337A>T (p.Lys113Ter)
|
|
|
NM_000277.3(PAH):c.365_366delinsT (p.Pro122fs)
|
|
|
NM_000277.3(PAH):c.440del (p.Pro147fs)
|
|
|
NM_000277.3(PAH):c.467del (p.Ala156fs)
|
|
|
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)
|
rs74486803
|
|
NM_000277.3(PAH):c.535_536del (p.Tyr179fs)
|
|
|
NM_000277.3(PAH):c.640G>T (p.Glu214Ter)
|
|
|
NM_000277.3(PAH):c.676del (p.Gln226fs)
|
|
|
NM_000277.3(PAH):c.693_694del (p.Gln232fs)
|
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000277.3(PAH):c.878del (p.Leu293fs)
|
|
|
NM_000282.4(PCCA):c.101_102del (p.Leu34fs)
|
|
|
NM_000282.4(PCCA):c.1086_1087delinsTGTGTATAA (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1086del (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1086delinsCT (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1095del (p.Gly366fs)
|
|
|
NM_000282.4(PCCA):c.1750del (p.Glu584fs)
|
|
|
NM_000282.4(PCCA):c.1756_1757del (p.Asp586fs)
|
|
|
NM_000282.4(PCCA):c.1812_1815del (p.Val605fs)
|
|
|
NM_000282.4(PCCA):c.458_459insAAATT (p.Arg154fs)
|
|
|
NM_000282.4(PCCA):c.459del (p.Arg154fs)
|
|
|
NM_000282.4(PCCA):c.493G>T (p.Gly165Ter)
|
|
|
NM_000282.4(PCCA):c.622del (p.Ile208fs)
|
|
|
NM_000282.4(PCCA):c.676_677insT (p.Gly226fs)
|
|
|
NM_000282.4(PCCA):c.786del (p.Lys262fs)
|
|
|
NM_000282.4(PCCA):c.837del (p.His279fs)
|
|
|
NM_000282.4(PCCA):c.844_846delinsAC (p.Ala282fs)
|
|
|
NM_000282.4(PCCA):c.904G>T (p.Glu302Ter)
|
|
|
NM_000282.4(PCCA):c.971_974del (p.Ala324fs)
|
|
|
NM_000317.3(PTS):c.208del (p.Val70fs)
|
|
|
NM_000353.3(TAT):c.1015del (p.Tyr339fs)
|
|
|
NM_000353.3(TAT):c.1037_1038del (p.Leu346fs)
|
|
|
NM_000353.3(TAT):c.18_19del (p.Gln7fs)
|
|
|
NM_000353.3(TAT):c.274_275del (p.Glu92fs)
|
|
|
NM_000353.3(TAT):c.283C>T (p.Gln95Ter)
|
|
|
NM_000353.3(TAT):c.313A>T (p.Lys105Ter)
|
|
|
NM_000353.3(TAT):c.632_634delinsA (p.Cys211fs)
|
|
|
NM_000353.3(TAT):c.680_692del (p.Lys227fs)
|
|
|
NM_000353.3(TAT):c.8dup (p.Tyr4fs)
|
|
|
NM_000360.4(TH):c.291_292del (p.Arg98fs)
|
|
|
NM_000360.4(TH):c.328del (p.Ile110fs)
|
|
|
NM_000360.4(TH):c.354_370del (p.Gln119fs)
|
|
|
NM_000360.4(TH):c.469delinsCTCACCCTTGG (p.Ser157fs)
|
|
|
NM_000360.4(TH):c.523A>T (p.Lys175Ter)
|
|
|
NM_000360.4(TH):c.548dup (p.Asp184fs)
|
|
|
NM_000360.4(TH):c.634C>T (p.Gln212Ter)
|
|
|
NM_000360.4(TH):c.748del (p.Glu250fs)
|
|
|
NM_000360.4(TH):c.792C>G (p.Tyr264Ter)
|
|
|
NM_000360.4(TH):c.811C>T (p.Gln271Ter)
|
|
|
NM_000360.4(TH):c.835dup (p.Leu279fs)
|
|
|
NM_000360.4(TH):c.839_840insCC (p.Lys280fs)
|
|
|
NM_000531.6(OTC):c.179C>A (p.Ser60Ter)
|
|
|
NM_000531.6(OTC):c.208A>T (p.Lys70Ter)
|
|
|
NM_000531.6(OTC):c.261_262del (p.Arg89fs)
|
|
|
NM_000531.6(OTC):c.262A>T (p.Lys88Ter)
|
|
|
NM_000531.6(OTC):c.50_53del (p.Gly17fs)
|
|
|
NM_000531.6(OTC):c.814G>T (p.Glu272Ter)
|
|
|
NM_000531.6(OTC):c.826A>T (p.Lys276Ter)
|
|
|
NM_000532.5(PCCB):c.1001_1002insACTACTTT (p.Asn335fs)
|
|
|
NM_000532.5(PCCB):c.1095C>A (p.Cys365Ter)
|
|
|
NM_000532.5(PCCB):c.1262_1263del (p.Glu421fs)
|
|
|
NM_000532.5(PCCB):c.1302_1303del (p.Tyr435fs)
|
|
|
NM_000532.5(PCCB):c.488del (p.Gly163fs)
|
|
|
NM_000532.5(PCCB):c.52del (p.Ala18fs)
|
|
|
NM_000532.5(PCCB):c.809del (p.Asn270fs)
|
|
|
NM_000532.5(PCCB):c.923T>A (p.Leu308Ter)
|
|
|
NM_000532.5(PCCB):c.934A>T (p.Lys312Ter)
|
|
|
NM_000709.4(BCKDHA):c.196G>T (p.Glu66Ter)
|
rs2039242789
|
|
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
|
|
|
NM_000709.4(BCKDHA):c.292_293del (p.Pro98fs)
|
|
|
NM_000709.4(BCKDHA):c.318C>A (p.Tyr106Ter)
|
|
|
NM_000709.4(BCKDHA):c.405T>A (p.Tyr135Ter)
|
rs1459441231
|
|
NM_000709.4(BCKDHA):c.429del (p.Ser144fs)
|
|
|
NM_000709.4(BCKDHA):c.469C>T (p.Gln157Ter)
|
|
|
NM_000709.4(BCKDHA):c.585C>A (p.Tyr195Ter)
|
rs575806482
|
|
NM_000709.4(BCKDHA):c.655del (p.Ala219fs)
|
|
|
NM_000709.4(BCKDHA):c.695_696del (p.Val232fs)
|
|
|
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)
|
rs1303770209
|
|
NM_000709.4(BCKDHA):c.755_756insA (p.Phe252fs)
|
|
|
NM_000709.4(BCKDHA):c.931A>T (p.Lys311Ter)
|
rs2039381583
|
|
NM_000709.4(BCKDHA):c.955del (p.Ala319fs)
|
|
|
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
|
|
|
NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
|
|
|
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
|
|
|
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)
|
rs1481968221
|
|
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)
|
rs2066894484
|
|
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
|
|
|
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
|
|
|
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
|
|
|
NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
|
|
|
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
|
|
|
NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
|
|
|
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
|
rs2066882139
|
|
NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
|
|
|
NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
|
|
|
NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
|
|
|
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter)
|
rs2065045000
|
|
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter)
|
rs148814769
|
|
NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
|
|
|
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
|
|
|
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)
|
rs2065038117
|
|
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter)
|
rs973578825
|
|
NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
|
|
|
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
|
|
|
NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
|
|
|
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter)
|
rs2090069178
|
|
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter)
|
rs1324486146
|
|
NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
|
|
|
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter)
|
rs2089755918
|
|
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter)
|
rs2066942076
|
|
NM_001352514.2(HLCS):c.616del (p.Glu206fs)
|
|
|
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)
|
rs776431253
|
|
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
|
|
NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
|
|
|
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
|
|
|
NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
|
|
|
NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
|
|
|
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter)
|
rs779907293
|
|
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter)
|
rs760029192
|
|
NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)
|
|
|
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
|
|
|
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)
|
|
|
NM_001875.5(CPS1):c.1363G>T (p.Glu455Ter)
|
rs1698622742
|
|
NM_001875.5(CPS1):c.1453del (p.Leu485fs)
|
|
|
NM_001875.5(CPS1):c.1489A>T (p.Lys497Ter)
|
rs1698631663
|
|
NM_001875.5(CPS1):c.1553_1555delinsA (p.Val518fs)
|
|
|
NM_001875.5(CPS1):c.1569_1570del (p.Gly524fs)
|
|
|
NM_001875.5(CPS1):c.1610C>A (p.Ser537Ter)
|
rs1698686495
|
|
NM_001875.5(CPS1):c.1751_1752del (p.Val584fs)
|
|
|
NM_001875.5(CPS1):c.1770T>A (p.Tyr590Ter)
|
|
|
NM_001875.5(CPS1):c.1781_1782del (p.Gly594fs)
|
|
|
NM_001875.5(CPS1):c.1790C>A (p.Ser597Ter)
|
rs1698754274
|
|
NM_001875.5(CPS1):c.1826_1827del (p.Leu609fs)
|
|
|
NM_001875.5(CPS1):c.1855C>T (p.Gln619Ter)
|
|
|
NM_001875.5(CPS1):c.2017_2018del (p.Ser673fs)
|
|
|
NM_001875.5(CPS1):c.2072T>A (p.Leu691Ter)
|
rs1698930454
|
|
NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter)
|
rs1337182136
|
|
NM_001875.5(CPS1):c.2144_2145del (p.Val715fs)
|
|
|
NM_001875.5(CPS1):c.2152A>T (p.Arg718Ter)
|
rs1698933356
|
|
NM_001875.5(CPS1):c.2201T>A (p.Leu734Ter)
|
rs1574586310
|
|
NM_001875.5(CPS1):c.2419G>T (p.Glu807Ter)
|
rs1699148940
|
|
NM_001875.5(CPS1):c.2470_2471del (p.Thr824fs)
|
|
|
NM_001875.5(CPS1):c.2533_2534del (p.Glu845fs)
|
|
|
NM_001875.5(CPS1):c.2556T>A (p.Tyr852Ter)
|
rs1699157096
|
|
NM_001875.5(CPS1):c.2605_2606insGAAG (p.Lys869fs)
|
|
|
NM_001875.5(CPS1):c.2616C>A (p.Tyr872Ter)
|
rs1699309581
|
|
NM_001875.5(CPS1):c.2623A>T (p.Lys875Ter)
|
|
|
NM_001875.5(CPS1):c.2633T>A (p.Leu878Ter)
|
rs1699310308
|
|
NM_001875.5(CPS1):c.2725G>T (p.Glu909Ter)
|
|
|
NM_001875.5(CPS1):c.2738C>A (p.Ser913Ter)
|
rs754706559
|
|
NM_001875.5(CPS1):c.2755A>T (p.Lys919Ter)
|
|
|
NM_001875.5(CPS1):c.2773G>T (p.Glu925Ter)
|
rs1700084097
|
|
NM_001875.5(CPS1):c.2779C>T (p.Gln927Ter)
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NM_001875.5(CPS1):c.2853C>A (p.Tyr951Ter)
|
rs1028099185
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NM_001875.5(CPS1):c.2877T>G (p.Tyr959Ter)
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NM_001875.5(CPS1):c.2913del (p.Phe971fs)
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NM_001875.5(CPS1):c.2943T>A (p.Cys981Ter)
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NM_001875.5(CPS1):c.2985T>A (p.Cys995Ter)
|
rs1700257346
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NM_001875.5(CPS1):c.3038_3039del (p.Val1013fs)
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NM_001875.5(CPS1):c.3132C>A (p.Tyr1044Ter)
|
rs1700264768
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NM_001875.5(CPS1):c.3147T>A (p.Cys1049Ter)
|
rs1700428230
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NM_001875.5(CPS1):c.3169G>T (p.Gly1057Ter)
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NM_001875.5(CPS1):c.3298A>T (p.Lys1100Ter)
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NM_001875.5(CPS1):c.3319A>T (p.Lys1107Ter)
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NM_001875.5(CPS1):c.3349G>T (p.Glu1117Ter)
|
rs779856996
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NM_001875.5(CPS1):c.3358A>T (p.Lys1120Ter)
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NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter)
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rs1700523651
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NM_001875.5(CPS1):c.3509_3511delinsA (p.Val1170fs)
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NM_001875.5(CPS1):c.3510_3511del (p.Glu1171fs)
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NM_001875.5(CPS1):c.3542_3546delinsA (p.Val1181fs)
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NM_001875.5(CPS1):c.3543_3546del (p.Gly1182fs)
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NM_001875.5(CPS1):c.3610G>T (p.Gly1204Ter)
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rs1700715255
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NM_001875.5(CPS1):c.3637C>T (p.Gln1213Ter)
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rs774692248
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NM_001875.5(CPS1):c.3661G>T (p.Glu1221Ter)
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NM_001875.5(CPS1):c.3768T>A (p.Cys1256Ter)
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rs1700881929
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NM_001875.5(CPS1):c.3812_3813insAGTATTC (p.Gly1272fs)
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NM_001875.5(CPS1):c.3824_3825delinsGTCTCTT (p.Phe1275fs)
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NM_001875.5(CPS1):c.3933del (p.Met1312fs)
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NM_001875.5(CPS1):c.3944G>A (p.Trp1315Ter)
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NM_001875.5(CPS1):c.3977_3978del (p.Arg1326fs)
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NM_001875.5(CPS1):c.4066A>T (p.Lys1356Ter)
|
rs1305147387
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NM_001875.5(CPS1):c.4099C>T (p.Gln1367Ter)
|
rs1701172643
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NM_001875.5(CPS1):c.4273A>T (p.Lys1425Ter)
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NM_001875.5(CPS1):c.460C>T (p.Gln154Ter)
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NM_001875.5(CPS1):c.486T>A (p.Tyr162Ter)
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NM_001876.4(CPT1A):c.1113_1120del (p.Glu372fs)
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NM_001876.4(CPT1A):c.1406_1407del (p.Leu469fs)
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NM_001876.4(CPT1A):c.1707del (p.Phe569fs)
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NM_001876.4(CPT1A):c.1829_1830del (p.Thr610fs)
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NM_001876.4(CPT1A):c.1858del (p.Val620fs)
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NM_001876.4(CPT1A):c.1883del (p.Gln628fs)
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NM_001876.4(CPT1A):c.1914_1915del (p.Lys639fs)
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NM_001876.4(CPT1A):c.1993_1995delinsT (p.Lys665fs)
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NM_001876.4(CPT1A):c.242T>A (p.Leu81Ter)
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NM_001876.4(CPT1A):c.331_334del (p.Gly111fs)
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NM_001876.4(CPT1A):c.357_358insTTATC (p.Val120fs)
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NM_001876.4(CPT1A):c.416_417insTCTTGGTG (p.Glu139fs)
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NM_001876.4(CPT1A):c.483del (p.Lys161fs)
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NM_001876.4(CPT1A):c.483dup (p.Pro162fs)
|
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NM_001876.4(CPT1A):c.783T>A (p.Tyr261Ter)
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NM_001918.5(DBT):c.111_114del (p.Cys38fs)
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|
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NM_001918.5(DBT):c.1208C>A (p.Ser403Ter)
|
rs1661796496
|
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NM_001918.5(DBT):c.126T>A (p.Tyr42Ter)
|
rs794727262
|
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NM_001918.5(DBT):c.131C>G (p.Ser44Ter)
|
|
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NM_001918.5(DBT):c.187C>T (p.Gln63Ter)
|
rs1663814241
|
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NM_001918.5(DBT):c.196C>T (p.Gln66Ter)
|
rs1663814011
|
|
NM_001918.5(DBT):c.209C>A (p.Ser70Ter)
|
rs398123664
|
|
NM_001918.5(DBT):c.298G>T (p.Glu100Ter)
|
rs1663520073
|
|
NM_001918.5(DBT):c.325dup (p.Thr109fs)
|
|
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NM_001918.5(DBT):c.511del (p.Thr171fs)
|
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NM_001918.5(DBT):c.567_568del (p.Ser189fs)
|
|
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NM_001918.5(DBT):c.573del (p.Val192fs)
|
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NM_001918.5(DBT):c.596_615delinsTAAT (p.Arg199fs)
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|
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NM_001918.5(DBT):c.70C>T (p.Gln24Ter)
|
rs1664173086
|
|
NM_001918.5(DBT):c.743_744del (p.Thr248fs)
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|
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NM_001918.5(DBT):c.775_778del (p.Phe259fs)
|
|
|
NM_001918.5(DBT):c.777_778delinsA (p.Phe259fs)
|
|
|
NM_001918.5(DBT):c.904G>T (p.Gly302Ter)
|
|
|
NM_001918.5(DBT):c.961C>T (p.Gln321Ter)
|
rs1662088383
|
|
NM_002225.5(IVD):c.263del (p.Gly88fs)
|
|
|
NM_002225.5(IVD):c.272del (p.Gly91fs)
|
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NM_002225.5(IVD):c.433C>T (p.Gln145Ter)
|
|
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NM_002225.5(IVD):c.439G>T (p.Glu147Ter)
|
|
|
NM_002225.5(IVD):c.442A>T (p.Lys148Ter)
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|
|
NM_002225.5(IVD):c.546_547delinsT (p.Lys182fs)
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NM_002225.5(IVD):c.634_635del (p.Asp212fs)
|
|
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NM_002225.5(IVD):c.640_641del (p.Ala214fs)
|
|
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NM_002225.5(IVD):c.693dup (p.Pro232fs)
|
|
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NM_002225.5(IVD):c.715A>T (p.Lys239Ter)
|
|
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NM_002225.5(IVD):c.813_814insAGACA (p.Gly272fs)
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NM_002225.5(IVD):c.958C>T (p.Gln320Ter)
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NM_003060.4(SLC22A5):c.1147G>T (p.Glu383Ter)
|
|
|
NM_003060.4(SLC22A5):c.1195del (p.Arg399fs)
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|
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NM_003060.4(SLC22A5):c.1258del (p.Val420fs)
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|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
|
NM_003060.4(SLC22A5):c.475_476del (p.Ile159fs)
|
|
|
NM_003060.4(SLC22A5):c.82_83del (p.Ser28fs)
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|
|
NM_003060.4(SLC22A5):c.858_859del (p.Gln287fs)
|
|
|
NM_004937.3(CTNS):c.236del (p.Pro79fs)
|
|
|
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
|
|
|
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)
|
rs376042415
|
|
NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter)
|
rs2076100759
|
|
NM_004937.3(CTNS):c.672C>A (p.Cys224Ter)
|
|
|
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
|
|
|
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
|
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
|
|
|
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)
|
|
|
NM_054012.4(ASS1):c.1042A>T (p.Lys348Ter)
|
|
|
NM_054012.4(ASS1):c.130_132delinsA (p.Phe44fs)
|
|
|
NM_054012.4(ASS1):c.432_433del (p.Trp145fs)
|
|
|
NM_054012.4(ASS1):c.493A>T (p.Lys165Ter)
|
|
|
NM_054012.4(ASS1):c.620_622delinsCT (p.Tyr207fs)
|
|
|
NM_054012.4(ASS1):c.620_622delinsT (p.Tyr207fs)
|
|
|
NM_054012.4(ASS1):c.844_850del (p.Tyr282fs)
|
|
|
NM_172250.3(MMAA):c.420_422delinsTGTGATT (p.Lys140fs)
|
|
|
NM_172250.3(MMAA):c.490G>T (p.Gly164Ter)
|
|
|
NM_172250.3(MMAA):c.493A>T (p.Lys165Ter)
|
|
|
NM_172250.3(MMAA):c.496del (p.Met166fs)
|
|
|
NM_172250.3(MMAA):c.523dup (p.Ser175fs)
|
|
|
NM_172250.3(MMAA):c.552T>A (p.Cys184Ter)
|
rs1727814966
|
|
NM_172250.3(MMAA):c.601_602del (p.Ser201fs)
|
|
|
NM_172250.3(MMAA):c.636delinsAGG (p.Thr213fs)
|
|
|
NM_172250.3(MMAA):c.708T>A (p.Tyr236Ter)
|
|
|
NM_172250.3(MMAA):c.785T>A (p.Leu262Ter)
|
|
|
NM_183050.4(BCKDHB):c.163_164del (p.Thr55fs)
|
|
|
NM_183050.4(BCKDHB):c.211dup (p.Met71fs)
|
|
|
NM_183050.4(BCKDHB):c.352A>T (p.Arg118Ter)
|
rs1772645594
|
|
NM_183050.4(BCKDHB):c.415_416del (p.Thr139fs)
|
|
|
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)
|
rs1772735425
|
|
NM_183050.4(BCKDHB):c.501T>G (p.Tyr167Ter)
|
rs1772736212
|
|
NM_183050.4(BCKDHB):c.559_560del (p.Gly187fs)
|
|
|
NM_183050.4(BCKDHB):c.56_57del (p.Ala19fs)
|
|
|
NM_183050.4(BCKDHB):c.625G>T (p.Gly209Ter)
|
rs1389512878
|
|
NM_183050.4(BCKDHB):c.691_693delinsAA (p.Asp231fs)
|
|
|
NM_183050.4(BCKDHB):c.732C>A (p.Tyr244Ter)
|
rs537988425
|
|
NM_183050.4(BCKDHB):c.790G>T (p.Glu264Ter)
|
rs933828560
|
|
NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter)
|
rs1774369632
|
|
NM_183050.4(BCKDHB):c.949A>T (p.Lys317Ter)
|
|
|