NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)
|
rs370382601
|
0.00053
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00037
|
NM_000387.6(SLC25A20):c.198+2T>C
|
rs147540030
|
0.00022
|
NM_001609.4(ACADSB):c.1194C>G (p.Tyr398Ter)
|
rs142095937
|
0.00022
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_016335.6(PRODH):c.930-1G>C
|
rs751149776
|
0.00017
|
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)
|
rs148773718
|
0.00015
|
NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)
|
rs151141842
|
0.00014
|
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu)
|
rs137852937
|
0.00014
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
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_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)
|
rs138884194
|
0.00010
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_001002755.4(NFU1):c.303-2A>T
|
rs371546359
|
0.00009
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)
|
rs199826737
|
0.00009
|
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)
|
rs752683070
|
0.00007
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)
|
rs539219309
|
0.00006
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
NM_014714.4(IFT140):c.1010-1G>A
|
rs770185023
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
|
rs277995
|
0.00005
|
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)
|
rs727503795
|
0.00004
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
NM_000159.4(GCDH):c.268G>A (p.Glu90Lys)
|
rs1025558859
|
0.00004
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000277.3(PAH):c.1238G>A (p.Arg413His)
|
rs79931499
|
0.00004
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00004
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys)
|
rs754460336
|
0.00004
|
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)
|
rs547662164
|
0.00004
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)
|
rs539029862
|
0.00003
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
|
rs767412638
|
0.00003
|
NM_000048.4(ASL):c.284G>A (p.Arg95His)
|
rs150244667
|
0.00003
|
NM_000071.3(CBS):c.737-1G>C
|
rs757428597
|
0.00003
|
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)
|
rs184148104
|
0.00003
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg)
|
rs757483045
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)
|
rs888739369
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_003060.4(SLC22A5):c.1053-2A>C
|
rs777004046
|
0.00003
|
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)
|
rs199689597
|
0.00003
|
NM_004453.4(ETFDH):c.405+3A>T
|
rs796051965
|
0.00003
|
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln)
|
rs776483190
|
0.00003
|
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)
|
rs775992753
|
0.00002
|
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)
|
rs1131692030
|
0.00002
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00002
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)
|
rs779681799
|
0.00002
|
NM_000320.3(QDPR):c.1A>T (p.Met1Leu)
|
rs1034528249
|
0.00002
|
NM_000360.4(TH):c.1189G>A (p.Gly397Arg)
|
rs1264884607
|
0.00002
|
NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln)
|
rs373537826
|
0.00002
|
NM_001142800.2(EYS):c.1766+1G>T
|
rs776204925
|
0.00002
|
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)
|
rs748838955
|
0.00002
|
NM_001242957.3(MAK):c.485C>T (p.Thr162Ile)
|
rs774229391
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)
|
rs104894424
|
0.00002
|
NM_018706.7(DHTKD1):c.1897-1G>A
|
rs760386662
|
0.00002
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)
|
rs1648832587
|
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_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro)
|
rs1384021857
|
0.00001
|
NM_000018.4(ACADVL):c.138+1G>A
|
rs747351687
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter)
|
rs748425041
|
0.00001
|
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)
|
rs1278227329
|
0.00001
|
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)
|
rs771121666
|
0.00001
|
NM_000048.4(ASL):c.1154G>A (p.Arg385His)
|
rs746120802
|
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.331C>T (p.Arg111Trp)
|
rs138310841
|
0.00001
|
NM_000048.4(ASL):c.978G>C (p.Gln326His)
|
rs764356037
|
0.00001
|
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)
|
rs745764562
|
0.00001
|
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)
|
rs757920190
|
0.00001
|
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)
|
rs758447354
|
0.00001
|
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)
|
rs119458969
|
0.00001
|
NM_000159.4(GCDH):c.737C>T (p.Ser246Leu)
|
rs754312389
|
0.00001
|
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)
|
rs751742575
|
0.00001
|
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)
|
rs386833521
|
0.00001
|
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)
|
rs1275684568
|
0.00001
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter)
|
rs386833572
|
0.00001
|
NM_000182.5(HADHA):c.1690-2A>G
|
rs1057516217
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000255.4(MMUT):c.753+1G>A
|
rs1028877309
|
0.00001
|
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)
|
rs121965051
|
0.00001
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
NM_000277.3(PAH):c.1259G>T (p.Arg420Met)
|
rs767075719
|
0.00001
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)
|
rs62509017
|
0.00001
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
NM_000277.3(PAH):c.632C>A (p.Pro211Gln)
|
rs281865443
|
0.00001
|
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)
|
rs199475577
|
0.00001
|
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)
|
rs199475616
|
0.00001
|
NM_000317.3(PTS):c.104A>G (p.Glu35Gly)
|
rs1328320990
|
0.00001
|
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)
|
rs775488556
|
0.00001
|
NM_000353.3(TAT):c.912+1G>A
|
rs2044196815
|
0.00001
|
NM_000481.4(AMT):c.317T>C (p.Ile106Thr)
|
rs1249645541
|
0.00001
|
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)
|
rs72558495
|
0.00001
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)
|
rs1214763792
|
0.00001
|
NM_001077620.3(PRCD):c.74+1G>A
|
rs779066277
|
0.00001
|
NM_001142800.2(EYS):c.1056+1G>A
|
rs1195522061
|
0.00001
|
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)
|
rs1250317776
|
0.00001
|
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn)
|
rs1211856182
|
0.00001
|
NM_001242957.3(MAK):c.101+1G>A
|
rs1300819259
|
0.00001
|
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)
|
rs186643840
|
0.00001
|
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
|
rs1025201214
|
0.00001
|
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)
|
rs1457774840
|
0.00001
|
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)
|
rs760373259
|
0.00001
|
NM_001297.5(CNGB1):c.290+2T>C
|
rs1429797650
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)
|
rs779893091
|
0.00001
|
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)
|
rs772976948
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)
|
rs754008420
|
0.00001
|
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)
|
rs61731073
|
0.00001
|
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg)
|
rs1408166345
|
0.00001
|
NM_003060.4(SLC22A5):c.394-16T>A
|
rs775097754
|
0.00001
|
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)
|
rs386134197
|
0.00001
|
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)
|
rs386134198
|
0.00001
|
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)
|
rs748289922
|
0.00001
|
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)
|
rs749490263
|
0.00001
|
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter)
|
rs764858363
|
0.00001
|
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)
|
rs758506791
|
0.00001
|
NM_052845.4(MMAB):c.584G>A (p.Arg195His)
|
rs756195708
|
0.00001
|
NM_054012.4(ASS1):c.689-2A>C
|
rs374586230
|
0.00001
|
NM_152419.3(HGSNAT):c.493+5G>A
|
rs781408761
|
0.00001
|
NM_201548.5(CERKL):c.526C>T (p.Gln176Ter)
|
rs988540767
|
0.00001
|
NM_201548.5(CERKL):c.677+547G>C
|
rs1044562973
|
0.00001
|
NC_000001.10:g.(24144074_24146999)_(24147084_24151845)del
|
|
|
NC_000001.10:g.(?_120254418)_(120254784_120263792)del
|
|
|
NC_000001.10:g.(?_76190031)_(76229365_?)del
|
|
|
NC_000002.11:g.(211507390_211512586)_211513223del
|
|
|
NC_000002.11:g.211436160_211541748del105589
|
|
|
NC_000004.11:g.(17506099_17510893)_(17513858_?)del
|
|
|
NC_000004.11:g.(93511438_94006145)_(94006431_94031898)del
|
|
|
NC_000006.11:g.(10804125_10809042)_(10809176_10813876)del
|
|
|
NC_000006.11:g.(64574252_64694275)_(64791896_64940484)dup
|
|
|
NC_000006.11:g.(65612394_65622376)_(65767621_66005755)del
|
|
|
NC_000006.11:g.(65707597_65767506)_(65767621_66005755)del
|
|
|
NC_000006.11:g.(66094394_66112370)_(66115261_66200486)del
|
|
|
NC_000006.11:g.(66115261_66200486)_(66205887_66349670)del
|
|
|
NC_000006.11:g.(80881108_80910650)_(80982939_81053380)dup
|
|
|
NC_000007.13:g.(121733213_121738503)_(121773796_121784214)del
|
|
|
NC_000012.11:g.(122295339_122295710)_(122295726_122296592)del
|
|
|
NC_000013.10:g.(100764316_100807232)_(100861718_100888095)del
|
|
|
NC_000013.10:g.(100982926_100992410)_(100992514_101020725)del
|
|
|
NC_000014.8:g.(23249261_23282108)_(23289021_?)del
|
|
|
NC_000014.8:g.(74764773_74766250)_(74769768_?)del
|
|
|
NC_000016.9:g.(87925561_87935517)_(87970113_?)del
|
|
|
NC_000019.9:g.(46057170_46087880)_(46088123_?)del
|
|
|
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)
|
rs1361089796
|
|
NM_000016.6(ACADM):c.19C>T (p.Arg7Ter)
|
rs1455996178
|
|
NM_000016.6(ACADM):c.224del (p.Val75fs)
|
rs1057516480
|
|
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)
|
rs2100365750
|
|
NM_000016.6(ACADM):c.454G>T (p.Glu152Ter)
|
rs1557446524
|
|
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)
|
rs779759347
|
|
NM_000016.6(ACADM):c.913G>T (p.Glu305Ter)
|
rs1215335509
|
|
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
|
|
|
NM_000017.4(ACADS):c.2T>C (p.Met1Thr)
|
|
|
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys)
|
rs796051906
|
|
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC
|
rs1057516686
|
|
NM_000018.4(ACADVL):c.1113del (p.Ile373fs)
|
rs1057517416
|
|
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs)
|
rs2071395559
|
|
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)
|
rs1597541142
|
|
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)
|
rs1555529204
|
|
NM_000018.4(ACADVL):c.335del (p.Phe112fs)
|
rs764028320
|
|
NM_000018.4(ACADVL):c.605T>A (p.Leu202His)
|
rs398123090
|
|
NM_000018.4(ACADVL):c.62+1G>A
|
rs2071111529
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
NM_000018.4(ACADVL):c.932del (p.Phe311fs)
|
rs764488310
|
|
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)
|
rs779758622
|
|
NM_000019.4(ACAT1):c.238+2T>C
|
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
NM_000026.4(ADSL):c.482+1G>C
|
|
|
NM_000045.4(ARG1):c.938del (p.Lys313fs)
|
rs1554251356
|
|
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter)
|
rs869312994
|
|
NM_000048.4(ASL):c.436C>G (p.Arg146Gly)
|
|
|
NM_000048.4(ASL):c.925G>A (p.Gly309Arg)
|
rs769506424
|
|
NM_000048.4(ASL):c.978+1G>A
|
|
|
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)
|
rs121964968
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)
|
rs745704046
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)
|
rs763835246
|
|
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)
|
rs141502207
|
|
NM_000071.3(CBS):c.862G>C (p.Ala288Pro)
|
rs141502207
|
|
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)
|
rs779270933
|
|
NM_000071.3(CBS):c.955-2A>G
|
|
|
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)
|
rs2116271469
|
|
NM_000108.5(DLD):c.268-1G>A
|
|
|
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
|
|
|
NM_000137.4(FAH):c.192+1G>T
|
rs786204683
|
|
NM_000137.4(FAH):c.47A>T (p.Asn16Ile)
|
rs121965073
|
|
NM_000137.4(FAH):c.572_577delinsTCCAA (p.Gly191fs)
|
|
|
NM_000156.6(GAMT):c.11_12del (p.Pro4fs)
|
|
|
NM_000156.6(GAMT):c.392-2A>G
|
rs2082618808
|
|
NM_000156.6(GAMT):c.475del (p.Leu159fs)
|
|
|
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro)
|
rs398123190
|
|
NM_000159.4(GCDH):c.1233del (p.Asn411fs)
|
rs2145955299
|
|
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)
|
rs933624223
|
|
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)
|
|
|
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)
|
rs142967670
|
|
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)
|
rs566417795
|
|
NM_000159.4(GCDH):c.329_332del (p.Ile110fs)
|
rs1555749434
|
|
NM_000159.4(GCDH):c.413G>A (p.Arg138Lys)
|
rs747370741
|
|
NM_000159.4(GCDH):c.636-3_639del
|
rs1555750535
|
|
NM_000159.4(GCDH):c.636-4_639del
|
rs775103982
|
|
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)
|
rs964724051
|
|
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu)
|
rs367699815
|
|
NM_000161.3(GCH1):c.614T>A (p.Val205Glu)
|
rs1418922853
|
|
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg)
|
rs386833542
|
|
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs)
|
rs755313904
|
|
NM_000170.3(GLDC):c.256-2A>G
|
|
|
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys)
|
rs376578742
|
|
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
|
|
|
NM_000182.5(HADHA):c.1059del (p.Lys353fs)
|
rs1227493628
|
|
NM_000182.5(HADHA):c.1633_1636delinsGGAAGGTCCTGG (p.Phe545fs)
|
|
|
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
|
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
NM_000182.5(HADHA):c.1844del (p.Asn615fs)
|
rs1669575714
|
|
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)
|
rs1553316176
|
|
NM_000191.3(HMGCL):c.225C>G (p.Ser75Arg)
|
|
|
NM_000191.3(HMGCL):c.230del (p.Val77fs)
|
rs1638632303
|
|
NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)
|
|
|
NM_000255.4(MMUT):c.1078G>T (p.Glu360Ter)
|
|
|
NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala)
|
rs1297307718
|
|
NM_000255.4(MMUT):c.1847G>A (p.Arg616His)
|
rs1369724342
|
|
NM_000255.4(MMUT):c.1946del (p.Pro649fs)
|
rs1554158754
|
|
NM_000255.4(MMUT):c.2033A>G (p.His678Arg)
|
|
|
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)
|
rs121965039
|
|
NM_000274.4(OAT):c.881_900+51del
|
rs1951451290
|
|
NM_000277.3(PAH):c.1099del (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)
|
rs199475628
|
|
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)
|
rs199475641
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)
|
rs5030842
|
|
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)
|
|
|
NM_000277.3(PAH):c.226G>T (p.Glu76Ter)
|
rs762949770
|
|
NM_000277.3(PAH):c.400C>T (p.Gln134Ter)
|
rs199475680
|
|
NM_000277.3(PAH):c.510-2A>G
|
rs1555204750
|
|
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)
|
rs281865443
|
|
NM_000277.3(PAH):c.722G>T (p.Arg241Leu)
|
rs62508730
|
|
NM_000277.3(PAH):c.890G>T (p.Arg297Leu)
|
rs62642939
|
|
NM_000282.4(PCCA):c.1900-1G>A
|
rs2152998142
|
|
NM_000282.4(PCCA):c.317C>A (p.Ala106Glu)
|
|
|
NM_000282.4(PCCA):c.362A>G (p.Tyr121Cys)
|
rs936088423
|
|
NM_000282.4(PCCA):c.645dup (p.Val216fs)
|
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
NM_000317.3(PTS):c.187-2A>G
|
rs2135409169
|
|
NM_000317.3(PTS):c.238A>G (p.Met80Val)
|
rs1057517810
|
|
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
|
|
|
NM_000320.3(QDPR):c.516del (p.Ala175fs)
|
|
|
NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp)
|
|
|
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
|
|
|
NM_000360.4(TH):c.1200+2T>C
|
rs2133690169
|
|
NM_000360.4(TH):c.203del (p.Leu68fs)
|
rs1554923852
|
|
NM_000360.4(TH):c.628G>A (p.Ala210Thr)
|
rs1260455415
|
|
NM_000360.4(TH):c.90+7dup
|
rs780485650
|
|
NM_000360.4(TH):c.983G>T (p.Cys328Phe)
|
rs121917765
|
|
NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter)
|
rs756998699
|
|
NM_000387.6(SLC25A20):c.241G>A (p.Gly81Arg)
|
|
|
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp)
|
rs748394731
|
|
NM_000387.6(SLC25A20):c.575G>A (p.Trp192Ter)
|
|
|
NM_000387.6(SLC25A20):c.625del (p.Ala209fs)
|
rs2106637622
|
|
NM_000387.6(SLC25A20):c.823C>T (p.Arg275Ter)
|
|
|
NM_000481.4(AMT):c.230C>A (p.Ser77Ter)
|
rs386833680
|
|
NM_000481.4(AMT):c.381_383delinsGG (p.Asp128fs)
|
rs2107933735
|
|
NM_000481.4(AMT):c.383del (p.Asp128fs)
|
rs2107933731
|
|
NM_000481.4(AMT):c.954_959delinsAAGGCA (p.Arg320His)
|
|
|
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)
|
rs386833692
|
|
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)
|
rs1368099067
|
|
NM_000531.6(OTC):c.140_141insG (p.Asn47fs)
|
rs72554314
|
|
NM_000531.6(OTC):c.364_365insTT (p.Glu122fs)
|
rs72554355
|
|
NM_000531.6(OTC):c.418G>C (p.Ala140Pro)
|
rs72556260
|
|
NM_000531.6(OTC):c.443T>C (p.Leu148Ser)
|
rs67016166
|
|
NM_000531.6(OTC):c.628A>G (p.Lys210Glu)
|
|
|
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
|
|
|
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)
|
rs72558452
|
|
NM_000531.6(OTC):c.844del (p.Gln282fs)
|
rs2068530290
|
|
NM_000531.6(OTC):c.860_861dup (p.Met288fs)
|
rs2068530385
|
|
NM_000531.6(OTC):c.943G>T (p.Val315Phe)
|
rs72558470
|
|
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
|
rs2108237867
|
|
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
|
|
|
NM_000532.5(PCCB):c.1217_1219delinsTAGA (p.Gly406fs)
|
|
|
NM_000532.5(PCCB):c.1223_1231delinsCAGGA (p.Ile408fs)
|
|
|
NM_000532.5(PCCB):c.1499-2A>G
|
|
|
NM_000532.5(PCCB):c.154_183+17del
|
rs2108128051
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
NM_000532.5(PCCB):c.183+3G>C
|
rs398123461
|
|
NM_000532.5(PCCB):c.429+3_429+6del
|
rs1941792728
|
|
NM_000532.5(PCCB):c.593G>A (p.Gly198Asp)
|
|
|
NM_000532.5(PCCB):c.947T>G (p.Met316Arg)
|
rs2108208811
|
|
NM_000666.3(ACY1):c.160-1G>A
|
|
|
NM_000709.4(BCKDHA):c.1168-2A>G
|
rs1555767285
|
|
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys)
|
rs137852872
|
|
NM_000709.4(BCKDHA):c.1255C>T (p.Gln419Ter)
|
|
|
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)
|
rs398123494
|
|
NM_000709.4(BCKDHA):c.32G>A (p.Trp11Ter)
|
|
|
NM_001003841.3(SLC6A19):c.1550A>G (p.Asp517Gly)
|
|
|
NM_001003841.3(SLC6A19):c.169C>T (p.Arg57Cys)
|
|
|
NM_001024845.3(SLC6A9):c.1536+1G>A
|
|
|
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
|
|
|
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)
|
rs794727558
|
|
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del
|
rs1568440440
|
|
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter)
|
rs1555730878
|
|
NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs)
|
rs758506938
|
|
NM_001142800.2(EYS):c.525_527del (p.Glu176del)
|
rs780433094
|
|
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs)
|
rs761760327
|
|
NM_001142800.2(EYS):c.5536_5543del (p.Val1846fs)
|
rs2149830976
|
|
NM_001142800.2(EYS):c.5550_5551del (p.Glu1850fs)
|
rs2149830970
|
|
NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)
|
|
|
NM_001142800.2(EYS):c.8628dup (p.Thr2877fs)
|
rs2149624980
|
|
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs)
|
rs1427770112
|
|
NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu)
|
rs772549804
|
|
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs)
|
rs869312188
|
|
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)
|
rs771640639
|
|
NM_001193313.2(SUGCT):c.313-1G>C
|
|
|
NM_001201543.2(FAM161A):c.378del (p.Gln127fs)
|
|
|
NM_001201543.2(FAM161A):c.70G>T (p.Gly24Ter)
|
rs2105111295
|
|
NM_001242957.3(MAK):c.1087_1088del (p.Gln364fs)
|
rs1196153507
|
|
NM_001242957.3(MAK):c.393dup (p.Leu132fs)
|
|
|
NM_001243279.3(ACSF3):c.1303G>T (p.Glu435Ter)
|
|
|
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
|
rs2151521127
|
|
NM_001243279.3(ACSF3):c.1577dup (p.His526fs)
|
|
|
NM_001243279.3(ACSF3):c.403G>T (p.Glu135Ter)
|
rs752534981
|
|
NM_001271.4(CHD2):c.1154-1G>T
|
|
|
NM_001271.4(CHD2):c.2764del (p.Glu922fs)
|
rs2141844216
|
|
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
|
|
|
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)
|
rs1064796014
|
|
NM_001370658.1(BTD):c.-17_-17+3del
|
rs1050514843
|
|
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)
|
rs397514335
|
|
NM_001370658.1(BTD):c.270del (p.Pro91fs)
|
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
|
|
|
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)
|
rs148031701
|
|
NM_001370658.1(BTD):c.920dup (p.Asn307fs)
|
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_001482.3(GATM):c.1237C>T (p.Arg413Trp)
|
rs1244824806
|
|
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)
|
rs772497399
|
|
NM_001875.5(CPS1):c.1412C>A (p.Thr471Asn)
|
|
|
NM_001875.5(CPS1):c.1549+1G>A
|
|
|
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)
|
rs759201450
|
|
NM_001875.5(CPS1):c.2283_2287delinsA (p.Cys761_Glu763delinsTer)
|
rs1699000892
|
|
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp)
|
rs121912595
|
|
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)
|
rs1288123680
|
|
NM_001875.5(CPS1):c.3337-1G>T
|
rs1700452978
|
|
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs)
|
rs1700454068
|
|
NM_001875.5(CPS1):c.4101+2T>C
|
rs767575696
|
|
NM_001875.5(CPS1):c.675_676del (p.Cys225fs)
|
|
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NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)
|
rs761225695
|
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NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer)
|
rs778346264
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NM_001875.5(CPS1):c.794C>T (p.Pro265Leu)
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NM_001876.4(CPT1A):c.1741-1G>A
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NM_001918.5(DBT):c.1165_1166del (p.Thr388_Thr389insTer)
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rs1553229661
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NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
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NM_001918.5(DBT):c.434-1G>C
|
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NM_001985.3(ETFB):c.375+1G>T
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NM_002150.3(HPD):c.248del (p.Gly83fs)
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NM_002150.3(HPD):c.717del (p.Ile240fs)
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NM_002150.3(HPD):c.842T>A (p.Leu281Ter)
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NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
|
rs34695403
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NM_002225.5(IVD):c.491T>C (p.Met164Thr)
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|
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NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
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NM_003038.5(SLC1A4):c.885dup (p.Lys296fs)
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NM_003060.4(SLC22A5):c.-91_22del (p.Met1fs)
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rs1554085861
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NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)
|
rs386134215
|
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NM_003060.4(SLC22A5):c.278C>A (p.Ser93Ter)
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NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
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NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
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NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)
|
rs201262157
|
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NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)
|
rs386134207
|
|
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys)
|
rs386833811
|
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NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs)
|
rs1480647123
|
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NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)
|
rs727503919
|
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NM_004453.4(ETFDH):c.1813dup (p.Val605fs)
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|
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NM_004453.4(ETFDH):c.1831G>A (p.Gly611Arg)
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NM_005050.4(ABCD4):c.1118+1G>A
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NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln)
|
rs745414252
|
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NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
|
rs767795583
|
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NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)
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NM_005629.4(SLC6A8):c.101_102insGC (p.Asp35fs)
|
rs2148358474
|
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NM_005629.4(SLC6A8):c.1254+1G>A
|
rs1557045333
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NM_005629.4(SLC6A8):c.82del (p.Asp28fs)
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NM_005629.4(SLC6A8):c.97_98del (p.Lys33fs)
|
rs2148358457
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NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
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NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)
|
rs951372478
|
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NM_006623.4(PHGDH):c.412-1G>C
|
rs1651455730
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NM_006623.4(PHGDH):c.643+1G>A
|
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NM_014251.3(SLC25A13):c.103A>G (p.Met35Val)
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NM_014251.3(SLC25A13):c.1210G>T (p.Glu404Ter)
|
rs1793999476
|
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NM_014251.3(SLC25A13):c.1307_1308delinsAA (p.Gly436Glu)
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|
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NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met)
|
rs548769905
|
|
NM_014362.4(HIBCH):c.809+1G>A
|
rs143746450
|
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NM_014714.4(IFT140):c.1155+1G>A
|
|
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NM_014714.4(IFT140):c.2577+25G>A
|
rs1423102192
|
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NM_014714.4(IFT140):c.2767_2768+2del
|
rs769075694
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs)
|
rs2149323805
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
|
|
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NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
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NM_015702.3(MMADHC):c.202del (p.Gln68fs)
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|
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NM_015702.3(MMADHC):c.372+1G>T
|
rs755561981
|
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NM_015702.3(MMADHC):c.9+1G>A
|
|
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NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)
|
|
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NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs)
|
rs764930914
|
|
NM_020166.5(MCCC1):c.1905del (p.Lys635fs)
|
rs727504001
|
|
NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter)
|
|
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NM_022132.5(MCCC2):c.1072+1G>A
|
|
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NM_022132.5(MCCC2):c.1216+2T>C
|
rs1554138265
|
|
NM_022132.5(MCCC2):c.314del (p.Gly105fs)
|
|
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NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup)
|
rs864309512
|
|
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly)
|
rs121908640
|
|
NM_054012.4(ASS1):c.1194-19_1197dup
|
|
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NM_054012.4(ASS1):c.319del (p.Gln107fs)
|
rs1564903969
|
|
NM_054012.4(ASS1):c.420+1G>T
|
rs1554983719
|
|
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.479T>C (p.Leu160Pro)
|
rs969835605
|
|
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)
|
rs1554725034
|
|
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)
|
rs1553957931
|
|
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)
|
rs864309730
|
|
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)
|
rs1005542482
|
|
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)
|
rs751953459
|
|
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)
|
rs149766077
|
|
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)
|
rs1772747408
|
|
NM_183050.4(BCKDHB):c.612dup (p.Ala205fs)
|
|
|
NM_194279.4(ISCA2):c.313A>G (p.Arg105Gly)
|
|
|
NM_201548.5(CERKL):c.1366-2A>G
|
|
|
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)
|
rs569826109
|
|
NM_201548.5(CERKL):c.568del (p.Val190fs)
|
|
|
NM_201548.5(CERKL):c.98T>G (p.Leu33Ter)
|
rs769632183
|
|
NM_205861.3(DHDDS):c.644del (p.Phe215fs)
|
|
|
NM_212552.3(BOLA3):c.259-1G>C
|
|
|