ClinVar Miner

List of variants studied for amino acid metabolism disease by Myriad Genetics, Inc.

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 659
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
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_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 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_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 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_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_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
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_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
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_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00015
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 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_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_000071.3(CBS):c.362G>A (p.Arg121His) rs770095972 0.00010
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000137.4(FAH):c.786G>A (p.Trp262Ter) rs80338899 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_000048.4(ASL):c.446+1G>A rs142637046 0.00008
NM_000071.3(CBS):c.1224-2A>C rs375846341 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.473G>A (p.Arg158Gln) rs5030843 0.00007
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_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00006
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520 0.00005
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_032316.3(NICN1):c.*2328C>T rs386833677 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_000018.4(ACADVL):c.1246G>T (p.Ala416Ser) rs118204018 0.00003
NM_000159.4(GCDH):c.1244-2A>C rs199999619 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu) rs184148104 0.00003
NM_000481.4(AMT):c.878-1G>A rs181134220 0.00003
NM_000532.5(PCCB):c.1398+1G>T rs794727092 0.00003
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val) rs779901247 0.00002
NM_000018.4(ACADVL):c.957G>A (p.Ser319=) rs143870522 0.00002
NM_000048.4(ASL):c.447-1G>A rs778254333 0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230 0.00002
NM_000709.4(BCKDHA):c.288+1G>A rs398123496 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 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.1001T>G (p.Met334Arg) rs398123079 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_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000018.4(ACADVL):c.753-2A>C rs398123092 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_000048.4(ASL):c.280C>T (p.Arg94Cys) rs374304304 0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln) rs764602422 0.00001
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser) rs751742575 0.00001
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter) rs1251538998 0.00001
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly) rs200055428 0.00001
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter) rs750475071 0.00001
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr) rs62516150 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) rs281865440 0.00001
NM_000277.3(PAH):c.912+1G>A rs62514956 0.00001
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907 0.00001
NM_000282.4(PCCA):c.231+1G>C rs972937270 0.00001
NM_000709.4(BCKDHA):c.647-1G>C rs753216964 0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412 0.00001
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715 0.00001
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter) rs1251623714 0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys) rs767905306 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys) rs398124580 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.1077+2T>C rs1057516370
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
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.481G>A (p.Ala161Thr) rs375284481
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.437G>A (p.Arg146Gln) rs796051931
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.209+1G>A rs751464024
NM_000071.3(CBS):c.218_230del (p.Ser73fs)
NM_000071.3(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.3(CBS):c.430G>T (p.Glu144Ter) rs121964966
NM_000071.3(CBS):c.457G>A (p.Gly153Arg) rs745704046
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.1654A>G (p.Met552Val) rs386833529
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.2798T>C (p.Ile933Thr) rs758029533
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.614C>G (p.Thr205Ser) rs1445870588
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.1315+2T>C rs1799970
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.722G>A (p.Arg241His) rs62508730
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.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
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.859C>G (p.Arg287Gly) rs764247545
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_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
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)
NM_001875.5(CPS1):c.2853C>A (p.Tyr951Ter) rs1028099185
NM_001875.5(CPS1):c.2877T>G (p.Tyr959Ter)
NM_001875.5(CPS1):c.2913del (p.Phe971fs)
NM_001875.5(CPS1):c.2943T>A (p.Cys981Ter)
NM_001875.5(CPS1):c.2985T>A (p.Cys995Ter) rs1700257346
NM_001875.5(CPS1):c.3038_3039del (p.Val1013fs)
NM_001875.5(CPS1):c.3132C>A (p.Tyr1044Ter) rs1700264768
NM_001875.5(CPS1):c.3147T>A (p.Cys1049Ter) rs1700428230
NM_001875.5(CPS1):c.3169G>T (p.Gly1057Ter)
NM_001875.5(CPS1):c.3298A>T (p.Lys1100Ter)
NM_001875.5(CPS1):c.3319A>T (p.Lys1107Ter)
NM_001875.5(CPS1):c.3349G>T (p.Glu1117Ter) rs779856996
NM_001875.5(CPS1):c.3358A>T (p.Lys1120Ter)
NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter) rs1700523651
NM_001875.5(CPS1):c.3509_3511delinsA (p.Val1170fs)
NM_001875.5(CPS1):c.3510_3511del (p.Glu1171fs)
NM_001875.5(CPS1):c.3542_3546delinsA (p.Val1181fs)
NM_001875.5(CPS1):c.3543_3546del (p.Gly1182fs)
NM_001875.5(CPS1):c.3610G>T (p.Gly1204Ter) rs1700715255
NM_001875.5(CPS1):c.3637C>T (p.Gln1213Ter) rs774692248
NM_001875.5(CPS1):c.3661G>T (p.Glu1221Ter)
NM_001875.5(CPS1):c.3768T>A (p.Cys1256Ter) rs1700881929
NM_001875.5(CPS1):c.3812_3813insAGTATTC (p.Gly1272fs)
NM_001875.5(CPS1):c.3824_3825delinsGTCTCTT (p.Phe1275fs)
NM_001875.5(CPS1):c.3933del (p.Met1312fs)
NM_001875.5(CPS1):c.3944G>A (p.Trp1315Ter)
NM_001875.5(CPS1):c.3977_3978del (p.Arg1326fs)
NM_001875.5(CPS1):c.4066A>T (p.Lys1356Ter) rs1305147387
NM_001875.5(CPS1):c.4099C>T (p.Gln1367Ter) rs1701172643
NM_001875.5(CPS1):c.4273A>T (p.Lys1425Ter)
NM_001875.5(CPS1):c.460C>T (p.Gln154Ter)
NM_001875.5(CPS1):c.486T>A (p.Tyr162Ter)
NM_001876.4(CPT1A):c.1113_1120del (p.Glu372fs)
NM_001876.4(CPT1A):c.1406_1407del (p.Leu469fs)
NM_001876.4(CPT1A):c.1707del (p.Phe569fs)
NM_001876.4(CPT1A):c.1829_1830del (p.Thr610fs)
NM_001876.4(CPT1A):c.1858del (p.Val620fs)
NM_001876.4(CPT1A):c.1883del (p.Gln628fs)
NM_001876.4(CPT1A):c.1914_1915del (p.Lys639fs)
NM_001876.4(CPT1A):c.1993_1995delinsT (p.Lys665fs)
NM_001876.4(CPT1A):c.242T>A (p.Leu81Ter)
NM_001876.4(CPT1A):c.331_334del (p.Gly111fs)
NM_001876.4(CPT1A):c.357_358insTTATC (p.Val120fs)
NM_001876.4(CPT1A):c.416_417insTCTTGGTG (p.Glu139fs)
NM_001876.4(CPT1A):c.483del (p.Lys161fs)
NM_001876.4(CPT1A):c.483dup (p.Pro162fs)
NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter) rs767241290
NM_001876.4(CPT1A):c.783T>A (p.Tyr261Ter)
NM_001918.5(DBT):c.111_114del (p.Cys38fs)
NM_001918.5(DBT):c.1208C>A (p.Ser403Ter) rs1661796496
NM_001918.5(DBT):c.126T>A (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.131C>G (p.Ser44Ter)
NM_001918.5(DBT):c.187C>T (p.Gln63Ter) rs1663814241
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)
NM_001918.5(DBT):c.511del (p.Thr171fs)
NM_001918.5(DBT):c.567_568del (p.Ser189fs)
NM_001918.5(DBT):c.573del (p.Val192fs)
NM_001918.5(DBT):c.596_615delinsTAAT (p.Arg199fs)
NM_001918.5(DBT):c.70C>T (p.Gln24Ter) rs1664173086
NM_001918.5(DBT):c.743_744del (p.Thr248fs)
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)
NM_002225.5(IVD):c.433C>T (p.Gln145Ter)
NM_002225.5(IVD):c.439G>T (p.Glu147Ter)
NM_002225.5(IVD):c.442A>T (p.Lys148Ter)
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.546_547delinsT (p.Lys182fs)
NM_002225.5(IVD):c.634_635del (p.Asp212fs)
NM_002225.5(IVD):c.640_641del (p.Ala214fs)
NM_002225.5(IVD):c.693dup (p.Pro232fs)
NM_002225.5(IVD):c.715A>T (p.Lys239Ter)
NM_002225.5(IVD):c.813_814insAGACA (p.Gly272fs)
NM_002225.5(IVD):c.958C>T (p.Gln320Ter)
NM_003060.4(SLC22A5):c.1147G>T (p.Glu383Ter)
NM_003060.4(SLC22A5):c.1195del (p.Arg399fs)
NM_003060.4(SLC22A5):c.1258del (p.Val420fs)
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.475_476del (p.Ile159fs)
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu) rs1437174685
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003060.4(SLC22A5):c.82_83del (p.Ser28fs)
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_025136.4(OPA3):c.143-1G>C rs80356523
NM_054012.4(ASS1):c.1042A>T (p.Lys348Ter)
NM_054012.4(ASS1):c.130_132delinsA (p.Phe44fs)
NM_054012.4(ASS1):c.421-2A>G rs751930594
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)

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