ClinVar Miner

List of variants reported as likely pathogenic for inborn disorder of amino acid metabolism by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1913
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_016335.6(PRODH):c.930-1G>C rs751149776 0.00017
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419 0.00016
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter) rs121913015 0.00014
NM_000187.4(HGD):c.1112A>G (p.His371Arg) rs120074172 0.00012
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met) rs376289130 0.00011
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000170.3(GLDC):c.2215C>T (p.Arg739Cys) rs148775220 0.00009
NM_000360.4(TH):c.1358G>A (p.Arg453His) rs759599321 0.00009
NM_002454.3(MTRR):c.1769+1G>A rs778738842 0.00009
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser) rs1321621475 0.00009
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_018368.4(LMBRD1):c.1338+2T>C rs147270670 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter) rs202247807 0.00006
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr) rs367857040 0.00006
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001609.4(ACADSB):c.1128+1G>A rs1564754571 0.00005
NM_054012.4(ASS1):c.1004G>A (p.Arg335His) rs555388438 0.00005
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln) rs771640767 0.00005
NM_000159.4(GCDH):c.268G>A (p.Glu90Lys) rs1025558859 0.00004
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_000254.3(MTR):c.250-1G>C rs145939391 0.00004
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys) rs62644467 0.00004
NM_000277.3(PAH):c.925G>T (p.Ala309Ser) rs1205657950 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00004
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys) rs188135164 0.00004
NM_001698.3(AUH):c.656-2_656-1del rs757748207 0.00004
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp) rs769261274 0.00004
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys) rs386134221 0.00004
NM_014251.3(SLC25A13):c.1231-1G>A rs781452100 0.00004
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715 0.00004
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) rs754460336 0.00004
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) rs762463914 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_153006.3(NAGS):c.1526G>A (p.Arg509Gln) rs759076608 0.00004
NM_205861.3(DHDDS):c.441-24A>G rs764831063 0.00004
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000071.3(CBS):c.415G>A (p.Gly139Arg) rs121964965 0.00003
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His) rs764608975 0.00003
NM_000277.3(PAH):c.125A>G (p.Lys42Arg) rs62635346 0.00003
NM_000277.3(PAH):c.886G>A (p.Asp296Asn) rs765934604 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000317.3(PTS):c.243_243+1dup rs866922524 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu) rs201407486 0.00003
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810 0.00003
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly) rs398123681 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_005957.5(MTHFR):c.137G>A (p.Arg46Gln) rs776483190 0.00003
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00003
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476 0.00003
NM_000071.3(CBS):c.301C>G (p.Leu101Val) rs369644531 0.00002
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) rs121909272 0.00002
NM_000159.4(GCDH):c.394C>T (p.Arg132Trp) rs372429120 0.00002
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu) rs367987650 0.00002
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230 0.00002
NM_000274.4(OAT):c.1249C>T (p.Pro417Ser) rs763915205 0.00002
NM_000282.4(PCCA):c.232-1G>A rs794727620 0.00002
NM_000282.4(PCCA):c.689G>A (p.Arg230His) rs747943045 0.00002
NM_000360.4(TH):c.1047+1G>C rs1340482195 0.00002
NM_000360.4(TH):c.644+1G>A rs1266265578 0.00002
NM_000554.6(CRX):c.166G>A (p.Ala56Thr) rs61748437 0.00002
NM_001243279.3(ACSF3):c.978-1G>A rs756599931 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001918.5(DBT):c.1A>G (p.Met1Val) rs759312184 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_003982.4(SLC7A7):c.1460del (p.Cys487fs) rs386833809 0.00002
NM_003982.4(SLC7A7):c.371T>C (p.Leu124Pro) rs386833814 0.00002
NM_014251.3(SLC25A13):c.15+1G>A rs748094224 0.00002
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser) rs758938066 0.00002
NM_014384.3(ACAD8):c.289G>A (p.Gly97Arg) rs371033488 0.00002
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln) rs121908422 0.00002
NM_015662.3(IFT172):c.402+2T>G rs774548930 0.00002
NM_018368.4(LMBRD1):c.1339-1G>T rs768709895 0.00002
NM_020166.5(MCCC1):c.137-2A>G rs727504006 0.00002
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser) rs375244642 0.00002
NM_020166.5(MCCC1):c.639+5G>T rs768630906 0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272 0.00002
NM_022132.5(MCCC2):c.129+3A>G rs1352606118 0.00002
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg) rs979584886 0.00002
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro) rs864309726 0.00002
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143 0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) rs377295639 0.00001
NM_000019.4(ACAT1):c.120+1G>C rs779908220 0.00001
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro) rs1420321267 0.00001
NM_000026.4(ADSL):c.1090G>A (p.Val364Met) rs370851726 0.00001
NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu) rs752104617 0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000026.4(ADSL):c.357+1G>A rs1275901345 0.00001
NM_000026.4(ADSL):c.580C>T (p.Arg194Cys) rs1465152683 0.00001
NM_000026.4(ADSL):c.702-2A>G rs1268264761 0.00001
NM_000026.4(ADSL):c.78G>A (p.Met26Ile) rs779612414 0.00001
NM_000045.4(ARG1):c.251T>C (p.Val84Ala) rs1311659158 0.00001
NM_000045.4(ARG1):c.922C>T (p.Arg308Trp) rs897222563 0.00001
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406 0.00001
NM_000048.4(ASL):c.1136G>A (p.Arg379His) rs200853731 0.00001
NM_000048.4(ASL):c.260A>G (p.Asp87Gly) rs752100894 0.00001
NM_000048.4(ASL):c.281G>A (p.Arg94His) rs777437569 0.00001
NM_000048.4(ASL):c.349-1G>A rs1395478201 0.00001
NM_000048.4(ASL):c.34C>T (p.Arg12Trp) rs564735357 0.00001
NM_000048.4(ASL):c.655G>C (p.Glu219Gln) rs944576125 0.00001
NM_000048.4(ASL):c.772G>A (p.Glu258Lys) rs909358635 0.00001
NM_000048.4(ASL):c.890G>A (p.Arg297Gln) rs750431938 0.00001
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr) rs757920190 0.00001
NM_000108.5(DLD):c.684+1G>T rs780025714 0.00001
NM_000108.5(DLD):c.875+1G>A rs1328820332 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000156.6(GAMT):c.391+15G>T rs367567416 0.00001
NM_000159.4(GCDH):c.1213dup (p.Met405fs) rs1377352983 0.00001
NM_000159.4(GCDH):c.278A>T (p.His93Leu) rs398123192 0.00001
NM_000159.4(GCDH):c.466G>A (p.Gly156Ser) rs767351827 0.00001
NM_000159.4(GCDH):c.737C>T (p.Ser246Leu) rs754312389 0.00001
NM_000159.4(GCDH):c.833C>T (p.Pro278Leu) rs755054282 0.00001
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg) rs765384489 0.00001
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg) rs758575745 0.00001
NM_000170.3(GLDC):c.2052+1G>C rs765906340 0.00001
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys) rs386833544 0.00001
NM_000170.3(GLDC):c.2198C>A (p.Ala733Asp) rs1817625926 0.00001
NM_000170.3(GLDC):c.2885G>A (p.Arg962Gln) rs1452327155 0.00001
NM_000170.3(GLDC):c.2962C>G (p.Arg988Gly) rs1288008254 0.00001
NM_000170.3(GLDC):c.714-2A>G rs1170385434 0.00001
NM_000187.4(HGD):c.157C>T (p.Arg53Trp) rs759435977 0.00001
NM_000187.4(HGD):c.343G>C (p.Gly115Arg) rs755734596 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000187.4(HGD):c.673C>T (p.Arg225Cys) rs756789146 0.00001
NM_000187.4(HGD):c.821C>T (p.Pro274Leu) rs1397264922 0.00001
NM_000191.3(HMGCL):c.144+1G>A rs1638698732 0.00001
NM_000254.3(MTR):c.1812+1G>A rs778242201 0.00001
NM_000277.3(PAH):c.1097C>T (p.Pro366Leu) rs62516098 0.00001
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg) rs1874694173 0.00001
NM_000277.3(PAH):c.1216A>G (p.Ile406Val) rs749613899 0.00001
NM_000277.3(PAH):c.1259G>T (p.Arg420Met) rs767075719 0.00001
NM_000277.3(PAH):c.223G>A (p.Asp75Asn) rs767453024 0.00001
NM_000277.3(PAH):c.356C>T (p.Pro119Leu) rs374999809 0.00001
NM_000277.3(PAH):c.435C>A (p.Asp145Glu) rs1375045653 0.00001
NM_000277.3(PAH):c.632C>A (p.Pro211Gln) rs281865443 0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr) rs62517164 0.00001
NM_000277.3(PAH):c.828G>A (p.Met276Ile) rs62514954 0.00001
NM_000277.3(PAH):c.859C>A (p.Leu287Met) rs781096854 0.00001
NM_000281.4(PCBD1):c.289G>A (p.Glu97Lys) rs397518416 0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016 0.00001
NM_000282.4(PCCA):c.183+1G>A rs757540625 0.00001
NM_000317.3(PTS):c.104A>G (p.Glu35Gly) rs1328320990 0.00001
NM_000317.3(PTS):c.243+2T>C rs759363496 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000317.3(PTS):c.379C>G (p.Leu127Val) rs1859971515 0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe) rs1317230624 0.00001
NM_000317.3(PTS):c.95G>A (p.Ser32Asn) rs374871539 0.00001
NM_000320.3(QDPR):c.546-2A>G rs1577184852 0.00001
NM_000329.3(RPE65):c.11+2T>G rs778768116 0.00001
NM_000329.3(RPE65):c.235T>C (p.Tyr79His) rs61752869 0.00001
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly) rs1571170561 0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) rs774309607 0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg) rs1375943362 0.00001
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His) rs776729515 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_000360.4(TH):c.1103C>T (p.Thr368Met) rs1057520384 0.00001
NM_000360.4(TH):c.1300T>C (p.Ser434Pro) rs1367289835 0.00001
NM_000360.4(TH):c.1399G>T (p.Asp467Tyr) rs200751977 0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys) rs1021029193 0.00001
NM_000481.4(AMT):c.339+1G>A rs1575308129 0.00001
NM_000481.4(AMT):c.996dup (p.His333fs) rs2049025668 0.00001
NM_000531.6(OTC):c.286T>C (p.Ser96Pro) rs184053962 0.00001
NM_000532.5(PCCB):c.1535G>A (p.Arg512His) rs764697873 0.00001
NM_000532.5(PCCB):c.177C>G (p.His59Gln) rs757134877 0.00001
NM_000532.5(PCCB):c.544-2A>G rs752377212 0.00001
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024 0.00001
NM_000532.5(PCCB):c.734G>A (p.Gly245Asp) rs778242891 0.00001
NM_000709.4(BCKDHA):c.371G>A (p.Arg124Gln) rs752700457 0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser) rs137852874 0.00001
NM_000709.4(BCKDHA):c.758C>G (p.Ala253Gly) rs1213596075 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000709.4(BCKDHA):c.808G>A (p.Ala270Thr) rs765045050 0.00001
NM_000709.4(BCKDHA):c.860G>A (p.Arg287Gln) rs757457825 0.00001
NM_001080.3(ALDH5A1):c.1592G>A (p.Cys531Tyr) rs953870735 0.00001
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly) rs757605946 0.00001
NM_001127222.2(CACNA1A):c.2105-2A>G rs906086634 0.00001
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys) rs779576853 0.00001
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His) rs2055849544 0.00001
NM_001243279.3(ACSF3):c.1502-2A>G rs1188774860 0.00001
NM_001243279.3(ACSF3):c.666+1G>A rs1336382616 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter) rs1466111134 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro) rs397514406 0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410 0.00001
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715 0.00001
NM_001370658.1(BTD):c.249+1G>T rs373249212 0.00001
NM_001370658.1(BTD):c.265G>C (p.Val89Leu) rs372416959 0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001609.4(ACADSB):c.923G>A (p.Cys308Tyr) rs770456976 0.00001
NM_001698.3(AUH):c.656-2del rs780964098 0.00001
NM_001875.5(CPS1):c.1263+5G>C rs1275489342 0.00001
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met) rs121912592 0.00001
NM_001875.5(CPS1):c.1837-8A>G rs1290474919 0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595 0.00001
NM_001875.5(CPS1):c.3607T>C (p.Ser1203Pro) rs1319489001 0.00001
NM_001875.5(CPS1):c.4274+2T>C rs1374322297 0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_001918.5(DBT):c.1384C>T (p.Arg462Cys) rs765257706 0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro) rs1663813561 0.00001
NM_002150.3(HPD):c.479A>G (p.Tyr160Cys) rs137852865 0.00001
NM_002225.5(IVD):c.286+2T>C rs748026507 0.00001
NM_002225.5(IVD):c.784+1G>A rs763471771 0.00001
NM_002454.3(MTRR):c.1554_1557+3del rs754619743 0.00001
NM_002454.3(MTRR):c.401+1G>A rs1400065323 0.00001
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His) rs752669339 0.00001
NM_002860.4(ALDH18A1):c.88+1G>A rs556267618 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_003060.4(SLC22A5):c.1412G>T (p.Arg471Leu) rs386134223 0.00001
NM_003060.4(SLC22A5):c.498-1G>C rs747592919 0.00001
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser) rs386134198 0.00001
NM_003060.4(SLC22A5):c.679C>T (p.Arg227Cys) rs546902674 0.00001
NM_003060.4(SLC22A5):c.694A>G (p.Thr232Ala) rs188698686 0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn) rs772578415 0.00001
NM_003060.4(SLC22A5):c.797C>G (p.Pro266Arg) rs538372785 0.00001
NM_004937.3(CTNS):c.61+2T>C rs767289120 0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) rs768600603 0.00001
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys) rs200688214 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_006623.4(PHGDH):c.357-1G>A rs766427173 0.00001
NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg) rs548769905 0.00001
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln) rs121908532 0.00001
NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys) rs80338727 0.00001
NM_014251.3(SLC25A13):c.70-1G>A rs962082210 0.00001
NM_014251.3(SLC25A13):c.848+1G>T rs761370420 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014362.4(HIBCH):c.891+1G>A rs915412371 0.00001
NM_014384.3(ACAD8):c.2T>C (p.Met1Thr) rs767041100 0.00001
NM_014384.3(ACAD8):c.845C>T (p.Ser282Phe) rs770663870 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_014384.3(ACAD8):c.989G>A (p.Arg330Gln) rs752153225 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser) rs1553162901 0.00001
NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile) rs762958757 0.00001
NM_015702.3(MMADHC):c.10-1G>C rs1573880177 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_015702.3(MMADHC):c.372+1G>A rs755561981 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_018368.4(LMBRD1):c.562+1G>A rs372279393 0.00001
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272 0.00001
NM_020166.5(MCCC1):c.1681+2T>C rs1333994006 0.00001
NM_020166.5(MCCC1):c.640-2A>G rs772395858 0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020166.5(MCCC1):c.89+1G>C rs771730236 0.00001
NM_020686.6(ABAT):c.169-2A>G rs939876800 0.00001
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln) rs724159992 0.00001
NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg) rs765438239 0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg) rs766045910 0.00001
NM_022132.5(MCCC2):c.1430A>G (p.Gln477Arg) rs769558016 0.00001
NM_022132.5(MCCC2):c.281+5G>A rs944539388 0.00001
NM_022132.5(MCCC2):c.383+2del rs1745349463 0.00001
NM_022132.5(MCCC2):c.578G>A (p.Arg193His) rs535519604 0.00001
NM_022132.5(MCCC2):c.691A>T (p.Ile231Phe) rs531567604 0.00001
NM_054012.4(ASS1):c.1075T>C (p.Tyr359His) rs1262020902 0.00001
NM_054012.4(ASS1):c.689-2A>C rs374586230 0.00001
NM_054012.4(ASS1):c.851C>T (p.Thr284Ile) rs886039853 0.00001
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln) rs121908648 0.00001
NM_058179.4(PSAT1):c.976G>T (p.Glu326Ter) rs199998249 0.00001
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919 0.00001
NM_152419.3(HGSNAT):c.118+1G>A rs1324229618 0.00001
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284 0.00001
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter) rs1560802980 0.00001
NM_177550.5(SLC13A5):c.202C>T (p.Pro68Ser) rs746055240 0.00001
NM_177550.5(SLC13A5):c.548-2A>G rs966681982 0.00001
NM_183050.4(BCKDHB):c.1023del (p.Ser342fs) rs776270090 0.00001
NM_183050.4(BCKDHB):c.1038+2T>C rs762419044 0.00001
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys) rs398124580 0.00001
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr) rs398124582 0.00001
NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp) rs768905244 0.00001
NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys) rs1180527322 0.00001
NM_201253.3(CRB1):c.2128G>A (p.Glu710Lys) rs62645755 0.00001
NM_201253.3(CRB1):c.2159A>T (p.Asp720Val) rs766989894 0.00001
NM_201253.3(CRB1):c.3493T>C (p.Cys1165Arg) rs767368951 0.00001
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp) rs1665481687 0.00001
NM_201253.3(CRB1):c.716G>C (p.Cys239Ser) rs771079655 0.00001
NM_201253.3(CRB1):c.849-2A>G rs988534225 0.00001
NM_205861.3(DHDDS):c.658-2A>G rs1248671884 0.00001
NC_000001.10:g.(?_100671776)_(100672202_?)del
NC_000001.10:g.(?_197297542)_(197298143_?)del
NC_000001.10:g.(?_197313391)_(197411442_?)dup
NC_000001.10:g.(?_197325941)_(197326163_?)del
NC_000001.10:g.(?_197325951)_(197326153_?)del
NC_000001.10:g.(?_197446965)_(197449864_?)del
NC_000001.10:g.(?_24137216)_(24140838_?)del
NC_000001.10:g.(?_26784272)_(26784406_?)del
NC_000001.11:g.(?_100218757)_(100221872_?)del
NC_000001.11:g.100196336_100215732del
NC_000002.11:g.(?_211454820)_(211455640_?)dup
NC_000002.11:g.(?_211502406)_(211503959_?)dup
NC_000002.11:g.(?_27681067)_(27687103_?)del
NC_000002.11:g.(?_27686032)_(27686703_?)del
NC_000002.11:g.(?_44508506)_(44508700_?)dup
NC_000002.11:g.(?_71351316)_(71351693_?)dup
NC_000002.12:g.(?_44280696)_(44346410_?)del
NC_000003.11:g.(?_120394619)_(120394730_?)del
NC_000003.11:g.(?_135980784)_(135980917_?)del
NC_000003.11:g.(?_136002659)_(136002809_?)del
NC_000003.11:g.(?_182763181)_(182810353_?)dup
NC_000003.11:g.(?_97498983)_(97499084_?)dup
NC_000003.12:g.(?_183092399)_(183094615_?)dup
NC_000003.12:g.(?_49419700)_(49419798_?)dup
NC_000003.12:g.49422370_49422479del rs2049123051
NC_000005.10:g.(?_71599649)_(71599770_?)del
NC_000005.10:g.(?_7883145)_(7892923_?)del
NC_000005.9:g.(?_7885880)_(7887275_?)del
NC_000005.9:g.(?_7889198)_(7897370_?)del
NC_000006.11:g.(?_24502731)_(24515558_?)del
NC_000006.11:g.(?_24533732)_(24539525_?)del
NC_000006.11:g.(?_80910641)_(80982948_?)dup
NC_000006.12:g.(?_80273125)_(80273231_?)del
NC_000007.13:g.(?_65556973)_(65557919_?)dup
NC_000007.13:g.(?_65556983)_(66460414_?)dup
NC_000007.13:g.(?_95799347)_(95838299_?)dup
NC_000007.13:g.(?_95864121)_(95868662_?)del
NC_000007.13:g.(?_95906488)_(95906670_?)dup
NC_000007.13:g.(?_95906498)_(95926273_?)dup
NC_000008.10:g.(?_43028846)_(43028896_?)dup
NC_000008.10:g.(?_43033197)_(43033397_?)dup
NC_000009.11:g.(?_133340833)_(133342151_?)del
NC_000009.11:g.(?_133346211)_(133346912_?)del
NC_000009.11:g.(?_133346862)_(133346912_?)dup
NC_000009.11:g.(?_6550783)_(6565449_?)dup
NC_000009.11:g.(?_6550783)_(6610376_?)dup
NC_000009.11:g.(?_6550793)_(6550924_?)dup
NC_000009.11:g.(?_6550793)_(6558694_?)dup
NC_000009.11:g.(?_6558564)_(6559850_?)del
NC_000009.11:g.(?_6587131)_(6595129_?)dup
NC_000009.11:g.(?_6602089)_(6604804_?)del
NC_000009.11:g.(?_94118145)_(94118457_?)del
NC_000009.12:g.(?_130479706)_(130480459_?)del
NC_000009.12:g.(?_130489323)_(130489474_?)del
NC_000009.12:g.(?_6533007)_(6550924_?)del
NC_000009.12:g.(?_6558539)_(6558704_?)del
NC_000010.10:g.(?_12126519)_(12131274_?)dup
NC_000010.10:g.(?_12142225)_(12144857_?)del
NC_000010.10:g.(?_12158694)_(12162192_?)del
NC_000010.10:g.(?_126089389)_(126090428_?)dup
NC_000011.10:g.(?_2166470)_(2168675_?)del
NC_000011.9:g.(?_108004537)_(108005053_?)dup
NC_000011.9:g.(?_108009615)_(108009778_?)del
NC_000011.9:g.(?_108017977)_(108018117_?)del
NC_000011.9:g.(?_2186110)_(2187232_?)del
NC_000011.9:g.(?_2188266)_(2189719_?)del
NC_000011.9:g.(?_72083996)_(72087051_?)del
NC_000012.11:g.(?_103260354)_(103260461_?)dup
NC_000012.11:g.(?_110009434)_(110009535_?)dup
NC_000012.12:g.(?_109561020)_(109565196_?)del
NC_000013.10:g.(?_100807223)_(100962172_?)dup
NC_000013.10:g.(?_100953694)_(100962182_?)dup
NC_000013.10:g.(?_100953704)_(100962172_?)dup
NC_000013.10:g.(?_100982805)_(101020838_?)dup
NC_000013.10:g.(?_101101486)_(101101579_?)dup
NC_000013.11:g.(?_100154969)_(100273356_?)del
NC_000013.11:g.(?_100301460)_(100425731_?)del
NC_000013.11:g.(?_100425613)_(100425751_?)del
NC_000013.11:g.(?_100449242)_(100491683_?)del
NC_000014.8:g.(?_23247992)_(23249270_?)dup
NC_000014.8:g.(?_55326379)_(55332174_?)dup
NC_000015.10:g.(?_40412971)_(40418283_?)del
NC_000015.10:g.(?_40413063)_(40414126_?)del
NC_000015.10:g.(?_40416058)_(40418283_?)del
NC_000015.9:g.(?_40702817)_(40708571_?)del
NC_000015.9:g.(?_80450382)_(80467453_?)dup
NC_000015.9:g.(?_80450392)_(80450522_?)del
NC_000016.10:g.89100703_89111915del
NC_000016.9:g.(?_87935498)_(87938530_?)dup
NC_000016.9:g.(?_8844259)_(8875287_?)del
NC_000016.9:g.(?_8851594)_(8862850_?)dup
NC_000016.9:g.(?_89167109)_(89178321_?)del
NC_000016.9:g.(?_89167111)_(89178323_?)del
NC_000016.9:g.(?_89178490)_(89199680_?)dup
NC_000016.9:g.(?_89178490)_(89212467_?)dup
NC_000017.10:g.(?_3550718)_(3552245_?)dup
NC_000019.10:g.(?_13259544)_(13259721_?)del
NC_000019.9:g.(?_13004287)_(13004477_?)del
NC_000019.9:g.(?_13340886)_(13342684_?)del
NC_000019.9:g.(?_13445172)_(13446743_?)dup
NC_000019.9:g.(?_13474954)_(13476240_?)del
NC_000019.9:g.(?_41925030)_(41925211_?)del
NC_000019.9:g.(?_46056772)_(46057189_?)del
NC_000021.8:g.(?_38126547)_(38139606_?)del
NC_000021.8:g.(?_44473450)_(44485825_?)del
NC_000021.8:g.(?_44476893)_(44480676_?)del
NC_000021.9:g.(?_43060421)_(43062415_?)dup
NC_000022.10:g.(?_40760260)_(40762546_?)del
NC_000023.10:g.(?_128698100)_(128701239_?)del
NC_000023.10:g.(?_128699729)_(128701360_?)del
NC_000023.10:g.(?_152959003)_(152959194_?)del
NC_000023.11:g.38352555G>A rs1555971000
NM_000019.4(ACAT1):c.1005+1G>A rs2134780623
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)
NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile) rs377295639
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg) rs2134797745
NM_000019.4(ACAT1):c.120+1G>A
NM_000019.4(ACAT1):c.120+1G>T rs779908220
NM_000019.4(ACAT1):c.121-2A>G rs2135334384
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) rs779758622
NM_000019.4(ACAT1):c.238+2T>A rs2135334862
NM_000019.4(ACAT1):c.334+2T>A
NM_000019.4(ACAT1):c.335-2A>G
NM_000019.4(ACAT1):c.579+2T>A rs112950994
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His) rs1437567292
NM_000019.4(ACAT1):c.73-1G>A
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.940+1G>T rs1591371185
NM_000019.4(ACAT1):c.940+2T>C rs963023006
NM_000019.4(ACAT1):c.940+2dup rs2134773243
NM_000026.4(ADSL):c.1010+1G>C
NM_000026.4(ADSL):c.1354C>G (p.Arg452Gly)
NM_000026.4(ADSL):c.1355G>C (p.Arg452Pro) rs775671027
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000026.4(ADSL):c.341A>C (p.Tyr114Ser) rs1035500320
NM_000026.4(ADSL):c.402+1G>T rs761551284
NM_000026.4(ADSL):c.403-1G>C
NM_000026.4(ADSL):c.422G>C (p.Arg141Pro) rs563054392
NM_000045.4(ARG1):c.131-1G>C rs1773782306
NM_000045.4(ARG1):c.131-1G>T
NM_000045.4(ARG1):c.306-1G>T
NM_000045.4(ARG1):c.306-1del
NM_000045.4(ARG1):c.374C>T (p.Ala125Val)
NM_000045.4(ARG1):c.457_465+18del
NM_000045.4(ARG1):c.466-179_524del rs2114544574
NM_000045.4(ARG1):c.57+2_57+6del rs1288156431
NM_000045.4(ARG1):c.58-2A>T
NM_000045.4(ARG1):c.665+2T>C rs113645893
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del) rs1399124034
NM_000048.4(ASL):c.1078A>G (p.Met360Val) rs2115760128
NM_000048.4(ASL):c.1080G>C (p.Met360Ile) rs1786857910
NM_000048.4(ASL):c.1135C>G (p.Arg379Gly)
NM_000048.4(ASL):c.1136G>T (p.Arg379Leu) rs200853731
NM_000048.4(ASL):c.1143+1G>A
NM_000048.4(ASL):c.1154G>T (p.Arg385Leu)
NM_000048.4(ASL):c.1204G>A (p.Gly402Arg) rs727503812
NM_000048.4(ASL):c.13-2A>G
NM_000048.4(ASL):c.1349G>A (p.Trp450Ter) rs1786894242
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)
NM_000048.4(ASL):c.176A>T (p.Glu59Val)
NM_000048.4(ASL):c.208-1G>A
NM_000048.4(ASL):c.280C>A (p.Arg94Ser)
NM_000048.4(ASL):c.291+1G>T rs201523601
NM_000048.4(ASL):c.291+2T>C
NM_000048.4(ASL):c.299T>A (p.Ile100Asn) rs202142867
NM_000048.4(ASL):c.302G>A (p.Gly101Asp)
NM_000048.4(ASL):c.311C>T (p.Ala104Val)
NM_000048.4(ASL):c.348+1G>T rs2115698756
NM_000048.4(ASL):c.454G>A (p.Asp152Asn) rs780023054
NM_000048.4(ASL):c.467C>A (p.Pro156Gln)
NM_000048.4(ASL):c.503G>A (p.Arg168His) rs727503811
NM_000048.4(ASL):c.544C>G (p.Arg182Gly)
NM_000048.4(ASL):c.545G>C (p.Arg182Pro)
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000048.4(ASL):c.599G>T (p.Gly200Val) rs2115726233
NM_000048.4(ASL):c.603-1G>C rs1584028936
NM_000048.4(ASL):c.603-2A>C
NM_000048.4(ASL):c.616G>A (p.Gly206Ser)
NM_000048.4(ASL):c.617G>A (p.Gly206Asp)
NM_000048.4(ASL):c.638G>C (p.Arg213Pro)
NM_000048.4(ASL):c.656-2A>C
NM_000048.4(ASL):c.674T>C (p.Ile225Thr)
NM_000048.4(ASL):c.675C>G (p.Ile225Met) rs1554327265
NM_000048.4(ASL):c.689T>C (p.Met230Thr)
NM_000048.4(ASL):c.690G>A (p.Met230Ile) rs2115733193
NM_000048.4(ASL):c.711C>G (p.Asp237Glu)
NM_000048.4(ASL):c.718+1G>A
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000048.4(ASL):c.723G>C (p.Glu241Asp)
NM_000048.4(ASL):c.834-1G>A
NM_000048.4(ASL):c.857A>C (p.Gln286Pro)
NM_000048.4(ASL):c.918_919-31del rs2115742136
NM_000048.4(ASL):c.919-1G>A rs1786770612
NM_000048.4(ASL):c.932T>C (p.Leu311Pro)
NM_000071.3(CBS):c.1006C>A (p.Arg336Ser)
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro) rs760417941
NM_000071.3(CBS):c.1007G>T (p.Arg336Leu)
NM_000071.3(CBS):c.1013T>C (p.Leu338Pro)
NM_000071.3(CBS):c.1039+5G>C rs777956934
NM_000071.3(CBS):c.1045A>G (p.Ser349Gly)
NM_000071.3(CBS):c.1047T>G (p.Ser349Arg)
NM_000071.3(CBS):c.1056C>G (p.Ser352Arg)
NM_000071.3(CBS):c.1111G>C (p.Val371Leu)
NM_000071.3(CBS):c.1135C>G (p.Arg379Gly)
NM_000071.3(CBS):c.1145+1G>A
NM_000071.3(CBS):c.1145+1G>C
NM_000071.3(CBS):c.1150A>G (p.Lys384Glu) rs121964967
NM_000071.3(CBS):c.1359-1G>C rs865990681
NM_000071.3(CBS):c.1361T>A (p.Val454Glu)
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro) rs1981524462
NM_000071.3(CBS):c.139G>A (p.Asp47Asn)
NM_000071.3(CBS):c.140A>C (p.Asp47Ala) rs2146427913
NM_000071.3(CBS):c.1467+1G>A rs111687029
NM_000071.3(CBS):c.1468-1G>A rs1057516895
NM_000071.3(CBS):c.154T>A (p.Cys52Ser) rs2146427772
NM_000071.3(CBS):c.1553-1G>C rs1555869979
NM_000071.3(CBS):c.1553-2A>C rs760609383
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.3(CBS):c.194A>T (p.His65Leu)
NM_000071.3(CBS):c.208_209+8del rs1983427704
NM_000071.3(CBS):c.209+1_209+8del rs2146427112
NM_000071.3(CBS):c.210-1G>C rs2146414477
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
NM_000071.3(CBS):c.263C>G (p.Pro88Arg)
NM_000071.3(CBS):c.284T>A (p.Ile95Asn)
NM_000071.3(CBS):c.316+1G>A rs1057516256
NM_000071.3(CBS):c.316+2_316+3del
NM_000071.3(CBS):c.317-2A>G rs2146395543
NM_000071.3(CBS):c.326G>A (p.Cys109Tyr)
NM_000071.3(CBS):c.340G>A (p.Ala114Thr) rs377708532
NM_000071.3(CBS):c.340G>T (p.Ala114Ser) rs377708532
NM_000071.3(CBS):c.359A>G (p.Asp120Gly) rs1982750491
NM_000071.3(CBS):c.361C>G (p.Arg121Gly)
NM_000071.3(CBS):c.369C>A (p.Ser123Arg) rs1555875387
NM_000071.3(CBS):c.434C>G (p.Pro145Arg)
NM_000071.3(CBS):c.443G>C (p.Gly148Ala)
NM_000071.3(CBS):c.451+1G>T rs1555875292
NM_000071.3(CBS):c.452-1G>A
NM_000071.3(CBS):c.472G>A (p.Ala158Thr)
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.3(CBS):c.526G>C (p.Glu176Gln)
NM_000071.3(CBS):c.527A>G (p.Glu176Gly)
NM_000071.3(CBS):c.528G>C (p.Glu176Asp)
NM_000071.3(CBS):c.531+1G>A
NM_000071.3(CBS):c.531+1G>T rs1207298097
NM_000071.3(CBS):c.676G>T (p.Ala226Ser)
NM_000071.3(CBS):c.677C>A (p.Ala226Asp)
NM_000071.3(CBS):c.683A>G (p.Asn228Ser) rs1555874803
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.3(CBS):c.776G>A (p.Gly259Asp)
NM_000071.3(CBS):c.784A>G (p.Thr262Ala)
NM_000071.3(CBS):c.920G>A (p.Gly307Asp)
NM_000071.3(CBS):c.920G>C (p.Gly307Ala)
NM_000071.3(CBS):c.920G>T (p.Gly307Val)
NM_000071.3(CBS):c.954+1G>A rs1057517373
NM_000071.3(CBS):c.954+2T>G rs1555874121
NM_000071.3(CBS):c.992C>T (p.Ala331Val) rs777919630
NM_000108.5(DLD):c.119-1G>A rs2116206966
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000108.5(DLD):c.198+1G>T
NM_000108.5(DLD):c.337+1G>T
NM_000108.5(DLD):c.338-1G>A
NM_000108.5(DLD):c.338-2A>G
NM_000108.5(DLD):c.39+1G>A rs111257462
NM_000108.5(DLD):c.40-2A>G
NM_000108.5(DLD):c.439-2A>G
NM_000108.5(DLD):c.582+2T>C
NM_000108.5(DLD):c.583-1G>C rs2032004082
NM_000108.5(DLD):c.875+1G>T rs1328820332
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAFAZZIN):c.236_238+5del rs2068331233
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.528_541+7del rs2068570435
NM_000116.5(TAFAZZIN):c.542-2A>G rs2068574381
NM_000116.5(TAFAZZIN):c.580_583+10del
NM_000116.5(TAFAZZIN):c.584-1G>A
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.700-1del
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000137.4(FAH):c.1025dup (p.Asp344fs) rs2041318487
NM_000137.4(FAH):c.1210G>C (p.Gly404Arg) rs1297118863
NM_000137.4(FAH):c.1A>C (p.Met1Leu) rs1057517972
NM_000137.4(FAH):c.34T>C (p.Phe12Leu)
NM_000137.4(FAH):c.364+2T>C rs1595890740
NM_000137.4(FAH):c.364+2T>G rs1595890740
NM_000137.4(FAH):c.365-2A>G
NM_000137.4(FAH):c.386C>T (p.Ser129Phe)
NM_000137.4(FAH):c.424A>G (p.Arg142Gly) rs1420414848
NM_000137.4(FAH):c.455+1G>A
NM_000137.4(FAH):c.456-1G>A
NM_000137.4(FAH):c.456-2A>G rs1555441251
NM_000137.4(FAH):c.497T>G (p.Val166Gly) rs778387055
NM_000137.4(FAH):c.553+1G>A
NM_000137.4(FAH):c.553+2del
NM_000137.4(FAH):c.566_606+62del
NM_000137.4(FAH):c.606+1G>A rs773450608
NM_000137.4(FAH):c.607-1G>A rs771712041
NM_000137.4(FAH):c.706+1G>A
NM_000137.4(FAH):c.706+2T>G rs1555441597
NM_000137.4(FAH):c.81+2T>G rs772895065
NM_000137.4(FAH):c.82-1G>A rs1247460110
NM_000137.4(FAH):c.82-1G>C
NM_000137.4(FAH):c.914-1G>A rs2142105483
NM_000137.4(FAH):c.960+2T>C rs2142105542
NM_000156.6(GAMT):c.163_181+6del rs2144640856
NM_000156.6(GAMT):c.181+2T>C rs2144640859
NM_000156.6(GAMT):c.181G>A (p.Gly61Arg) rs1300512258
NM_000156.6(GAMT):c.182-2A>G rs2082624299
NM_000156.6(GAMT):c.233T>A (p.Val78Glu)
NM_000156.6(GAMT):c.327+1G>T rs2144638033
NM_000156.6(GAMT):c.327+2T>G
NM_000156.6(GAMT):c.328-2A>G rs2082621259
NM_000156.6(GAMT):c.391+1G>C rs1600158894
NM_000156.6(GAMT):c.392-2A>G rs2082618808
NM_000156.6(GAMT):c.459+1G>A
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter) rs796052525
NM_000159.4(GCDH):c.1048T>C (p.Cys350Arg)
NM_000159.4(GCDH):c.1082+1G>A
NM_000159.4(GCDH):c.1083-2A>C rs2145954766
NM_000159.4(GCDH):c.1116G>C (p.Arg372Ser)
NM_000159.4(GCDH):c.1118A>G (p.Asn373Ser) rs1568429137
NM_000159.4(GCDH):c.1132G>A (p.Ala378Thr) rs1442597198
NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly) rs752127949
NM_000159.4(GCDH):c.1186G>A (p.Asp396Asn)
NM_000159.4(GCDH):c.1199T>C (p.Val400Ala) rs2145955176
NM_000159.4(GCDH):c.1209C>G (p.His403Gln) rs747746632
NM_000159.4(GCDH):c.1214T>C (p.Met405Thr)
NM_000159.4(GCDH):c.1219C>G (p.Leu407Val)
NM_000159.4(GCDH):c.1243+1G>C
NM_000159.4(GCDH):c.1247C>T (p.Thr416Ile) rs121434368
NM_000159.4(GCDH):c.1274G>T (p.Gly425Val)
NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp) rs1555751995
NM_000159.4(GCDH):c.158C>T (p.Pro53Leu)
NM_000159.4(GCDH):c.1A>C (p.Met1Leu) rs1197426645
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr) rs1417389111
NM_000159.4(GCDH):c.204G>C (p.Arg68Ser)
NM_000159.4(GCDH):c.244C>T (p.Arg82Cys)
NM_000159.4(GCDH):c.245G>C (p.Arg82Pro) rs1568424857
NM_000159.4(GCDH):c.262C>G (p.Arg88Gly) rs142967670
NM_000159.4(GCDH):c.272-2A>C rs1555749369
NM_000159.4(GCDH):c.280C>T (p.Arg94Trp) rs771602677
NM_000159.4(GCDH):c.334+1G>A
NM_000159.4(GCDH):c.338A>G (p.Tyr113Cys) rs1970602621
NM_000159.4(GCDH):c.398T>G (p.Val133Gly) rs772549903
NM_000159.4(GCDH):c.413G>A (p.Arg138Lys) rs747370741
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr) rs1555749927
NM_000159.4(GCDH):c.510G>T (p.Lys170Asn)
NM_000159.4(GCDH):c.511G>C (p.Gly171Arg) rs2145950047
NM_000159.4(GCDH):c.535C>T (p.Leu179Phe)
NM_000159.4(GCDH):c.659A>T (p.Asp220Val)
NM_000159.4(GCDH):c.679C>G (p.Arg227Gly)
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln) rs121434373
NM_000159.4(GCDH):c.680G>T (p.Arg227Leu) rs121434373
NM_000159.4(GCDH):c.701G>A (p.Arg234Gln) rs1203022386
NM_000159.4(GCDH):c.787A>G (p.Met263Val)
NM_000159.4(GCDH):c.788T>C (p.Met263Thr)
NM_000159.4(GCDH):c.852+1G>A rs1367214521
NM_000159.4(GCDH):c.881G>T (p.Arg294Leu) rs775606471
NM_000159.4(GCDH):c.957-1G>T
NM_000161.3(GCH1):c.212T>C (p.Leu71Pro) rs1555362843
NM_000161.3(GCH1):c.251A>G (p.Glu84Gly) rs1595031209
NM_000161.3(GCH1):c.268G>A (p.Gly90Arg)
NM_000161.3(GCH1):c.272T>A (p.Leu91Gln)
NM_000161.3(GCH1):c.281C>A (p.Thr94Lys) rs1566687244
NM_000161.3(GCH1):c.281C>T (p.Thr94Met) rs1566687244
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000161.3(GCH1):c.532A>G (p.Arg178Gly) rs1594971274
NM_000161.3(GCH1):c.578T>A (p.Ile193Asn) rs2140041744
NM_000161.3(GCH1):c.631A>G (p.Met211Val)
NM_000161.3(GCH1):c.673del (p.Thr225fs) rs2140038846
NM_000161.3(GCH1):c.722G>A (p.Arg241Gln)
NM_000170.3(GLDC):c.1040G>A (p.Arg347Lys)
NM_000170.3(GLDC):c.1055C>T (p.Thr352Ile)
NM_000170.3(GLDC):c.1057_1058+13del
NM_000170.3(GLDC):c.1059-1G>C rs1587958061
NM_000170.3(GLDC):c.1118G>C (p.Arg373Pro)
NM_000170.3(GLDC):c.1127A>C (p.Lys376Thr) rs1300550278
NM_000170.3(GLDC):c.1145G>C (p.Cys382Ser)
NM_000170.3(GLDC):c.1261+1G>C
NM_000170.3(GLDC):c.1261+2T>A rs1818463608
NM_000170.3(GLDC):c.1401+5G>T
NM_000170.3(GLDC):c.1402-1G>A rs386833525
NM_000170.3(GLDC):c.1412C>G (p.Ser471Cys)
NM_000170.3(GLDC):c.1652G>A (p.Ser551Asn)
NM_000170.3(GLDC):c.1665+2del
NM_000170.3(GLDC):c.1666-1G>A
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.3(GLDC):c.1740C>G (p.His580Gln) rs1587946346
NM_000170.3(GLDC):c.1822T>G (p.Tyr608Asp)
NM_000170.3(GLDC):c.1843C>A (p.Pro615Thr) rs2129831448
NM_000170.3(GLDC):c.1844C>T (p.Pro615Leu) rs2129831443
NM_000170.3(GLDC):c.1847A>G (p.Asn616Ser)
NM_000170.3(GLDC):c.1847A>T (p.Asn616Ile) rs1818287644
NM_000170.3(GLDC):c.1850+1del rs1399754800
NM_000170.3(GLDC):c.1926+5G>A rs1554644678
NM_000170.3(GLDC):c.1927-1G>A rs2129735367
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.3(GLDC):c.2052+1G>A rs765906340
NM_000170.3(GLDC):c.2053-2A>C rs1323060528
NM_000170.3(GLDC):c.2053-2A>G
NM_000170.3(GLDC):c.2146C>T (p.Leu716Phe)
NM_000170.3(GLDC):c.2197G>A (p.Ala733Thr) rs2129725849
NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser)
NM_000170.3(GLDC):c.2236G>A (p.Asp746Asn)
NM_000170.3(GLDC):c.2276C>G (p.Pro759Arg)
NM_000170.3(GLDC):c.2279A>T (p.His760Leu) rs1817583687
NM_000170.3(GLDC):c.2287G>T (p.Gly763Cys)
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.3(GLDC):c.2303G>C (p.Gly768Ala) rs2129719653
NM_000170.3(GLDC):c.2312G>C (p.Gly771Ala) rs760077981
NM_000170.3(GLDC):c.2323C>T (p.His775Tyr) rs1554643619
NM_000170.3(GLDC):c.236T>C (p.Leu79Pro) rs2130031802
NM_000170.3(GLDC):c.255+3A>T rs1417674040
NM_000170.3(GLDC):c.2570-2A>G
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.3(GLDC):c.2666-1G>A rs1429861000
NM_000170.3(GLDC):c.2677C>T (p.Pro893Ser) rs2129650066
NM_000170.3(GLDC):c.2755T>G (p.Phe919Val) rs1817122724
NM_000170.3(GLDC):c.2838+5G>A rs386833568
NM_000170.3(GLDC):c.2884C>T (p.Arg962Trp) rs1172061571
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000170.3(GLDC):c.335-1G>C rs1554649675
NM_000170.3(GLDC):c.449A>G (p.Asn150Ser) rs386833578
NM_000170.3(GLDC):c.467G>A (p.Gly156Glu) rs2129948795
NM_000170.3(GLDC):c.471-1G>C rs1818826951
NM_000170.3(GLDC):c.471-1G>T
NM_000170.3(GLDC):c.594T>A (p.Asp198Glu)
NM_000170.3(GLDC):c.605C>G (p.Ala202Gly) rs386833583
NM_000170.3(GLDC):c.635+1G>A rs1368757896
NM_000170.3(GLDC):c.635+1G>T
NM_000170.3(GLDC):c.636-2A>G
NM_000170.3(GLDC):c.707G>C (p.Arg236Pro) rs772832052
NM_000170.3(GLDC):c.713+1G>A rs903653902
NM_000170.3(GLDC):c.714-1G>A rs2129898670
NM_000170.3(GLDC):c.796T>G (p.Tyr266Asp) rs1818705322
NM_000170.3(GLDC):c.811G>C (p.Gly271Arg)
NM_000170.3(GLDC):c.850C>A (p.His284Asn)
NM_000170.3(GLDC):c.871T>C (p.Cys291Arg) rs141014950
NM_000170.3(GLDC):c.911C>A (p.Pro304Gln) rs1207147043
NM_000187.4(HGD):c.1076C>T (p.Pro359Leu)
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg) rs1940645842
NM_000187.4(HGD):c.1290_1300del (p.Lys431fs) rs1553715351
NM_000187.4(HGD):c.15+1G>A rs552207335
NM_000187.4(HGD):c.177-1G>T
NM_000187.4(HGD):c.283-1G>A rs2107522179
NM_000187.4(HGD):c.368G>A (p.Gly123Glu) rs374473331
NM_000187.4(HGD):c.435-1G>C
NM_000187.4(HGD):c.482G>A (p.Gly161Glu)
NM_000187.4(HGD):c.674G>C (p.Arg225Pro)
NM_000187.4(HGD):c.775-1G>A rs2107502859
NM_000187.4(HGD):c.820C>A (p.Pro274Thr)
NM_000187.4(HGD):c.898G>C (p.Val300Leu)
NM_000191.3(HMGCL):c.125A>G (p.Asp42Gly)
NM_000191.3(HMGCL):c.144+2T>C rs1001955490
NM_000191.3(HMGCL):c.145-1G>C
NM_000191.3(HMGCL):c.252+1G>A rs775218067
NM_000191.3(HMGCL):c.252+1G>C
NM_000191.3(HMGCL):c.348+1G>A rs1322650779
NM_000191.3(HMGCL):c.48_60+289del
NM_000191.3(HMGCL):c.497+1G>A
NM_000191.3(HMGCL):c.561+1G>T
NM_000191.3(HMGCL):c.562-1G>A
NM_000191.3(HMGCL):c.562-2A>G rs1553131955
NM_000191.3(HMGCL):c.60+1G>C
NM_000191.3(HMGCL):c.61-1G>C rs1638701269
NM_000191.3(HMGCL):c.750+2T>C
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp) rs1662641467
NM_000254.3(MTR):c.1188+1G>A rs2103130072
NM_000254.3(MTR):c.1330-2A>T
NM_000254.3(MTR):c.1515+2T>C
NM_000254.3(MTR):c.1954-12A>G
NM_000254.3(MTR):c.2021G>A (p.Arg674His) rs774231870
NM_000254.3(MTR):c.2044-1G>A
NM_000254.3(MTR):c.2305-1G>T rs1664661222
NM_000254.3(MTR):c.2305-2A>G
NM_000254.3(MTR):c.2406-2A>T
NM_000254.3(MTR):c.2595-2A>G rs1558334603
NM_000254.3(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.3(MTR):c.2775+1G>T
NM_000254.3(MTR):c.2851+2T>G rs2147922731
NM_000254.3(MTR):c.3007+1G>C
NM_000254.3(MTR):c.3008-2A>G
NM_000254.3(MTR):c.3008-4A>G rs1224783275
NM_000254.3(MTR):c.34+2T>C
NM_000254.3(MTR):c.3406-2A>G
NM_000254.3(MTR):c.503-2A>G
NM_000254.3(MTR):c.866-2A>C
NM_000254.3(MTR):c.927+1G>A
NM_000254.3(MTR):c.927+1G>C rs1572218599
NM_000274.4(OAT):c.1014+1G>A rs1951414426
NM_000274.4(OAT):c.198_199+6delinsTTAA rs1554867698
NM_000274.4(OAT):c.272G>A (p.Gly91Glu) rs386833603
NM_000274.4(OAT):c.424+1G>A
NM_000274.4(OAT):c.473A>C (p.Tyr158Ser)
NM_000274.4(OAT):c.520+1G>T rs2134476814
NM_000274.4(OAT):c.648+1G>A rs1951546023
NM_000274.4(OAT):c.649-1G>C rs551144161
NM_000274.4(OAT):c.710G>A (p.Gly237Asp) rs386833616
NM_000274.4(OAT):c.771+2T>C
NM_000274.4(OAT):c.771_771+7del rs1564731646
NM_000274.4(OAT):c.772-1G>A rs770390524
NM_000274.4(OAT):c.772-1G>T rs770390524
NM_000274.4(OAT):c.881_900+51del rs1951451290
NM_000274.4(OAT):c.901-1G>A rs1951420329
NM_000276.4(OCRL):c.1244+1338_1366del
NM_000276.4(OCRL):c.1478G>A (p.Arg493Gln)
NM_000276.4(OCRL):c.1571A>G (p.His524Arg) rs137853852
NM_000276.4(OCRL):c.1713+1G>A
NM_000276.4(OCRL):c.1879+2T>G
NM_000276.4(OCRL):c.2256+1G>T rs2124428298
NM_000276.4(OCRL):c.238_238+1del
NM_000276.4(OCRL):c.2470-1G>A rs1602820970
NM_000276.4(OCRL):c.2581G>C (p.Ala861Pro) rs2124430527
NM_000276.4(OCRL):c.349+2T>G
NM_000276.4(OCRL):c.560+1G>C rs1569458883
NM_000277.3(PAH):c.1013A>C (p.Asp338Ala) rs1169310686
NM_000277.3(PAH):c.1030G>A (p.Gly344Ser) rs62508679
NM_000277.3(PAH):c.1049C>G (p.Ser350Cys)
NM_000277.3(PAH):c.1066-10_1070del rs1592947582
NM_000277.3(PAH):c.1096C>T (p.Pro366Ser) rs2136635839
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) rs1592947508
NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys) rs62642942
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) rs1555203681
NM_000277.3(PAH):c.1155_1156delinsGC (p.Tyr386His) rs2136635586
NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp) rs199475691
NM_000277.3(PAH):c.1199+4A>G rs1471682834
NM_000277.3(PAH):c.1229T>G (p.Phe410Cys) rs62644475
NM_000277.3(PAH):c.1253C>T (p.Thr418Ile) rs1874539947
NM_000277.3(PAH):c.1259G>C (p.Arg420Thr) rs767075719
NM_000277.3(PAH):c.1304A>T (p.Asp435Val) rs1592945394
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?) rs199475641
NM_000277.3(PAH):c.157C>A (p.Arg53Ser) rs199475619
NM_000277.3(PAH):c.182A>G (p.Asn61Ser) rs2136702181
NM_000277.3(PAH):c.200C>A (p.Ser67Tyr)
NM_000277.3(PAH):c.205C>T (p.Pro69Ser) rs199475678
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)
NM_000277.3(PAH):c.212G>C (p.Arg71Pro) rs62508695
NM_000277.3(PAH):c.232G>A (p.Glu78Lys) rs62507326
NM_000277.3(PAH):c.242C>A (p.Thr81Asn) rs796064502
NM_000277.3(PAH):c.265C>A (p.Pro89Thr)
NM_000277.3(PAH):c.320A>C (p.His107Pro) rs542645236
NM_000277.3(PAH):c.441+6T>C rs199475698
NM_000277.3(PAH):c.443G>A (p.Gly148Asp) rs1555205655
NM_000277.3(PAH):c.461A>G (p.Tyr154Cys) rs1565853526
NM_000277.3(PAH):c.467C>G (p.Ala156Gly) rs570748767
NM_000277.3(PAH):c.467C>T (p.Ala156Val) rs570748767
NM_000277.3(PAH):c.470G>T (p.Arg157Ile) rs199475611
NM_000277.3(PAH):c.510-5T>A rs1875378128
NM_000277.3(PAH):c.515A>G (p.Gln172Arg)
NM_000277.3(PAH):c.516G>C (p.Gln172His) rs192592111
NM_000277.3(PAH):c.562G>A (p.Gly188Ser) rs2136649680
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.602A>G (p.His201Arg) rs62517180
NM_000277.3(PAH):c.613G>A (p.Glu205Lys) rs63083560
NM_000277.3(PAH):c.614A>G (p.Glu205Gly) rs62508593
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.641A>G (p.Glu214Gly)
NM_000277.3(PAH):c.649T>C (p.Cys217Arg) rs62508718
NM_000277.3(PAH):c.650G>T (p.Cys217Phe)
NM_000277.3(PAH):c.666T>G (p.Asp222Glu) rs1263259211
NM_000277.3(PAH):c.670A>C (p.Ile224Leu)
NM_000277.3(PAH):c.670A>G (p.Ile224Val)
NM_000277.3(PAH):c.716G>C (p.Gly239Ala) rs62507283
NM_000277.3(PAH):c.721C>A (p.Arg241Ser) rs76687508
NM_000277.3(PAH):c.780C>G (p.Phe260Leu)
NM_000277.3(PAH):c.789C>A (p.Phe263Leu) rs62642944
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr) rs62507335
NM_000277.3(PAH):c.805A>G (p.Ile269Val) rs62508692
NM_000277.3(PAH):c.838G>C (p.Glu280Gln) rs62508698
NM_000277.3(PAH):c.890G>T (p.Arg297Leu) rs62642939
NM_000277.3(PAH):c.899C>G (p.Ala300Gly)
NM_000277.3(PAH):c.912+3A>C rs281865450
NM_000277.3(PAH):c.920G>T (p.Gly307Val)
NM_000277.3(PAH):c.938C>A (p.Ala313Glu) rs62642914
NM_000277.3(PAH):c.990G>C (p.Glu330Asp) rs62508580
NM_000281.4(PCBD1):c.3+1G>T
NM_000282.4(PCCA):c.106-1G>A rs769819121
NM_000282.4(PCCA):c.1065+1G>A
NM_000282.4(PCCA):c.1065+1G>C rs2063433750
NM_000282.4(PCCA):c.1117A>G (p.Met373Val)
NM_000282.4(PCCA):c.1196G>T (p.Arg399Leu) rs1301904623
NM_000282.4(PCCA):c.1209+2T>G
NM_000282.4(PCCA):c.1210-1G>A
NM_000282.4(PCCA):c.1267C>T (p.Pro423Ser)
NM_000282.4(PCCA):c.1285-2A>G
NM_000282.4(PCCA):c.1408C>G (p.Leu470Val)
NM_000282.4(PCCA):c.1430-1G>A rs2152733805
NM_000282.4(PCCA):c.1430-2A>T
NM_000282.4(PCCA):c.1540+2T>A rs1555422449
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.183+2T>C rs1555342593
NM_000282.4(PCCA):c.184-1G>A rs879253807
NM_000282.4(PCCA):c.1846-1G>A rs1555298451
NM_000282.4(PCCA):c.1846-1G>T rs1555298451
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.1900-1G>A rs2152998142
NM_000282.4(PCCA):c.2040+2T>G
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.232-2A>G rs747968405
NM_000282.4(PCCA):c.232-2A>T rs747968405
NM_000282.4(PCCA):c.300+1G>A
NM_000282.4(PCCA):c.300+2T>G
NM_000282.4(PCCA):c.414+1G>T rs2152383049
NM_000282.4(PCCA):c.449_468+443del rs2152387124
NM_000282.4(PCCA):c.468+1G>C
NM_000282.4(PCCA):c.468+2T>C
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr) rs202247815
NM_000282.4(PCCA):c.637+1G>A rs1265911468
NM_000282.4(PCCA):c.637+2T>A rs2152522245
NM_000282.4(PCCA):c.638-1G>A
NM_000282.4(PCCA):c.638-2A>G
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
NM_000282.4(PCCA):c.716+1G>C
NM_000282.4(PCCA):c.717-2A>G rs2062611307
NM_000282.4(PCCA):c.819+1G>A
NM_000282.4(PCCA):c.820-1G>A rs2063103516
NM_000282.4(PCCA):c.914+1G>A
NM_000317.3(PTS):c.163+1G>T rs2135408292
NM_000317.3(PTS):c.164-716A>T rs1859903893
NM_000317.3(PTS):c.187-2A>G rs2135409169
NM_000317.3(PTS):c.243+1G>T
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000317.3(PTS):c.407A>G (p.Asp136Gly) rs1859972447
NM_000317.3(PTS):c.83+1G>A rs927103678
NM_000317.3(PTS):c.84-1G>A
NM_000317.3(PTS):c.84-2A>G
NM_000320.3(QDPR):c.105+2T>A
NM_000320.3(QDPR):c.105G>C (p.Trp35Cys)
NM_000320.3(QDPR):c.106-1G>C rs1428018512
NM_000320.3(QDPR):c.265G>C (p.Gly89Arg) rs1184906056
NM_000320.3(QDPR):c.445G>A (p.Gly149Arg) rs1028029163
NM_000320.3(QDPR):c.445G>C (p.Gly149Arg)
NM_000320.3(QDPR):c.515C>T (p.Pro172Leu)
NM_000320.3(QDPR):c.546-1G>A rs995264302
NM_000320.3(QDPR):c.635T>C (p.Phe212Ser)
NM_000329.3(RPE65):c.1040G>A (p.Arg347His) rs562037932
NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)
NM_000329.3(RPE65):c.12-1G>C rs1348031618
NM_000329.3(RPE65):c.12-2A>T
NM_000329.3(RPE65):c.1243+1G>A rs1421696563
NM_000329.3(RPE65):c.1243+1G>C
NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) rs34627040
NM_000329.3(RPE65):c.1339-2A>G
NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr) rs1395763356
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs) rs2100806889
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
NM_000329.3(RPE65):c.354-1G>A rs2100827985
NM_000329.3(RPE65):c.354-1G>T rs2100827985
NM_000329.3(RPE65):c.354-2del rs2100827990
NM_000329.3(RPE65):c.496-1G>A rs2100821984
NM_000329.3(RPE65):c.643+2T>A rs1645896934
NM_000329.3(RPE65):c.644-2A>G
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.859-2A>C
NM_000341.4(SLC3A1):c.1011+3A>G rs1206425661
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)
NM_000341.4(SLC3A1):c.430+2T>G rs1558450604
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)
NM_000341.4(SLC3A1):c.891+2T>C rs2104342335
NM_000353.3(TAT):c.1041+2T>C rs113758103
NM_000353.3(TAT):c.1041+2T>G
NM_000353.3(TAT):c.1042-2_1042del
NM_000353.3(TAT):c.396_408+201del
NM_000353.3(TAT):c.452G>A (p.Cys151Tyr) rs1357257156
NM_000353.3(TAT):c.556T>C (p.Tyr186His) rs2145232912
NM_000353.3(TAT):c.568-2A>G rs1555537871
NM_000353.3(TAT):c.759+1G>A rs2145232021
NM_000360.4(TH):c.1047+1G>T
NM_000360.4(TH):c.1048-2A>G rs2133691221
NM_000360.4(TH):c.1105-1G>T rs2133690469
NM_000360.4(TH):c.1200+2T>C rs2133690169
NM_000360.4(TH):c.1201-1G>A rs2133689319
NM_000360.4(TH):c.1201-2_1201-1delinsCC rs2133689324
NM_000360.4(TH):c.1229G>C (p.Arg410Pro)
NM_000360.4(TH):c.1357C>T (p.Arg453Cys) rs755922032
NM_000360.4(TH):c.312+1G>A rs1554923802
NM_000360.4(TH):c.487+1G>C rs1554923513
NM_000360.4(TH):c.487+2T>C rs1057517003
NM_000360.4(TH):c.488-1G>A rs1285458218
NM_000360.4(TH):c.488-1G>T rs1285458218
NM_000360.4(TH):c.576+2T>G rs2133696288
NM_000360.4(TH):c.577-2A>G
NM_000360.4(TH):c.577-2A>T
NM_000360.4(TH):c.645-2A>G rs1590168368
NM_000360.4(TH):c.827C>A (p.Ser276Tyr)
NM_000360.4(TH):c.841+1G>T rs2133693369
NM_000360.4(TH):c.889C>T (p.Arg297Trp)
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000360.4(TH):c.90+14T>A
NM_000360.4(TH):c.977+1G>A rs1057516736
NM_000360.4(TH):c.977+1del
NM_000360.4(TH):c.978-1G>A
NM_000481.4(AMT):c.1058C>A (p.Ser353Tyr) rs768293167
NM_000481.4(AMT):c.1087G>A (p.Gly363Ser)
NM_000481.4(AMT):c.217C>G (p.Arg73Gly)
NM_000481.4(AMT):c.248A>C (p.His83Pro)
NM_000481.4(AMT):c.258+1G>A
NM_000481.4(AMT):c.281G>A (p.Arg94Gln)
NM_000481.4(AMT):c.293T>G (p.Met98Arg) rs2107935989
NM_000481.4(AMT):c.471+2_471+7del
NM_000481.4(AMT):c.664C>A (p.Arg222Ser) rs781466698
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys) rs386833689
NM_000481.4(AMT):c.685G>C (p.Asp229His) rs1553638463
NM_000481.4(AMT):c.696+2T>A rs541594122
NM_000481.4(AMT):c.697-1G>A
NM_000481.4(AMT):c.697-2A>C
NM_000481.4(AMT):c.826G>A (p.Asp276Asn)
NM_000481.4(AMT):c.845C>T (p.Thr282Ile)
NM_000481.4(AMT):c.877+5G>A
NM_000481.4(AMT):c.886C>G (p.Arg296Gly)
NM_000481.4(AMT):c.887G>T (p.Arg296Leu) rs386833690
NM_000481.4(AMT):c.90+1G>T
NM_000481.4(AMT):c.91-2A>G
NM_000481.4(AMT):c.991C>T (p.Arg331Trp)
NM_000531.6(OTC):c.1027A>G (p.Thr343Ala)
NM_000531.6(OTC):c.1028C>G (p.Thr343Arg) rs72558491
NM_000531.6(OTC):c.1034A>T (p.Tyr345Phe)
NM_000531.6(OTC):c.1063T>G (p.Ter355Gly) rs2147349974
NM_000531.6(OTC):c.119G>T (p.Arg40Leu)
NM_000531.6(OTC):c.122A>G (p.Asp41Gly) rs74518351
NM_000531.6(OTC):c.134T>G (p.Leu45Arg)
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.299-2A>G rs2147330536
NM_000531.6(OTC):c.350A>C (p.His117Pro)
NM_000531.6(OTC):c.365A>G (p.Glu122Gly) rs1131691517
NM_000531.6(OTC):c.376G>A (p.Asp126Asn)
NM_000531.6(OTC):c.403G>C (p.Ala135Pro) rs770910923
NM_000531.6(OTC):c.419C>T (p.Ala140Val) rs2147341270
NM_000531.6(OTC):c.478A>T (p.Ile160Phe) rs2147341364
NM_000531.6(OTC):c.480C>G (p.Ile160Met)
NM_000531.6(OTC):c.485G>C (p.Gly162Ala) rs72556272
NM_000531.6(OTC):c.485G>T (p.Gly162Val) rs72556272
NM_000531.6(OTC):c.505C>G (p.Pro169Ala) rs72556277
NM_000531.6(OTC):c.535C>G (p.Leu179Val) rs2068487136
NM_000531.6(OTC):c.539A>C (p.Gln180Pro) rs2147341500
NM_000531.6(OTC):c.562G>A (p.Gly188Ser) rs72556294
NM_000531.6(OTC):c.577T>C (p.Trp193Arg) rs67284661
NM_000531.6(OTC):c.588T>A (p.Asp196Glu) rs2068501518
NM_000531.6(OTC):c.602T>C (p.Leu201Pro) rs72558407
NM_000531.6(OTC):c.604C>G (p.His202Asp) rs72558408
NM_000531.6(OTC):c.613A>G (p.Met205Val) rs72558411
NM_000531.6(OTC):c.614T>A (p.Met205Lys) rs2068501940
NM_000531.6(OTC):c.617T>A (p.Met206Lys) rs72558412
NM_000531.6(OTC):c.622G>T (p.Ala208Ser)
NM_000531.6(OTC):c.629A>C (p.Lys210Thr) rs2068502349
NM_000531.6(OTC):c.629A>T (p.Lys210Ile)
NM_000531.6(OTC):c.673C>T (p.Pro225Ser) rs72558428
NM_000531.6(OTC):c.674C>A (p.Pro225Gln) rs67120076
NM_000531.6(OTC):c.717G>A (p.Glu239=) rs66851495
NM_000531.6(OTC):c.758C>A (p.Ala253Glu) rs2147345110
NM_000531.6(OTC):c.77+2dup rs1569270890
NM_000531.6(OTC):c.77+5G>C rs72552302
NM_000531.6(OTC):c.78-1G>T rs281865554
NM_000531.6(OTC):c.803T>A (p.Met268Lys)
NM_000531.6(OTC):c.804G>C (p.Met268Ile)
NM_000531.6(OTC):c.810AGA[1] (p.Glu273del) rs2147345212
NM_000531.6(OTC):c.867+1126A>G rs1569281032
NM_000531.6(OTC):c.904C>G (p.His302Asp) rs72558463
NM_000531.6(OTC):c.943G>A (p.Val315Ile)
NM_000531.6(OTC):c.959G>T (p.Arg320Leu) rs72558474
NM_000532.5(PCCB):c.1090+2T>C rs1553782779
NM_000532.5(PCCB):c.1091-1G>A rs2108237784
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr)
NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1145A>T (p.Asp382Val)
NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys)
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg) rs753037539
NM_000532.5(PCCB):c.1198+1G>A rs1935333494
NM_000532.5(PCCB):c.1288_1299+5del rs1250541852
NM_000532.5(PCCB):c.1300-1G>A
NM_000532.5(PCCB):c.1300-1G>C
NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys)
NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp)
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
NM_000532.5(PCCB):c.1395_1398+8del
NM_000532.5(PCCB):c.1398+2del rs2108239135
NM_000532.5(PCCB):c.155_183+17del rs1941483558
NM_000532.5(PCCB):c.175C>A (p.His59Asn)
NM_000532.5(PCCB):c.183+1G>A rs398123460
NM_000532.5(PCCB):c.183+1G>C
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000532.5(PCCB):c.303+1G>T rs1941662983
NM_000532.5(PCCB):c.304-1G>A
NM_000532.5(PCCB):c.304-2A>G
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.334G>A (p.Gly112Ser) rs1941676220
NM_000532.5(PCCB):c.372+1G>A
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.373-1G>C rs2108144374
NM_000532.5(PCCB):c.429+1G>A rs1317017233
NM_000532.5(PCCB):c.484G>A (p.Gly162Arg)
NM_000532.5(PCCB):c.493C>G (p.Arg165Gly) rs879253815
NM_000532.5(PCCB):c.543+1G>A rs2108146835
NM_000532.5(PCCB):c.543+1G>C
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.614T>G (p.Val205Gly)
NM_000532.5(PCCB):c.632C>G (p.Thr211Arg) rs2108182082
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala) rs1052979420
NM_000532.5(PCCB):c.733G>T (p.Gly245Cys)
NM_000532.5(PCCB):c.737G>A (p.Gly246Asp)
NM_000532.5(PCCB):c.748C>T (p.His250Tyr)
NM_000532.5(PCCB):c.749A>G (p.His250Arg) rs1933813724
NM_000532.5(PCCB):c.77_183+30delinsCC
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly) rs1560017781
NM_000532.5(PCCB):c.835C>T (p.Pro279Ser)
NM_000532.5(PCCB):c.836C>G (p.Pro279Arg) rs780837200
NM_000554.6(CRX):c.437_449del (p.Leu146fs) rs1968165080
NM_000554.6(CRX):c.463dup (p.Thr155fs) rs2123743110
NM_000554.6(CRX):c.545C>G (p.Ser182Ter) rs2123743235
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) rs1064797247
NM_000554.6(CRX):c.663C>G (p.Tyr221Ter)
NM_000554.6(CRX):c.766C>T (p.Gln256Ter) rs1968173024
NM_000554.6(CRX):c.774T>A (p.Tyr258Ter) rs767273026
NM_000687.4(AHCY):c.558+1_558+2delinsCG
NM_000709.4(BCKDHA):c.108+5G>C rs1568499702
NM_000709.4(BCKDHA):c.1167+1G>C rs2039389302
NM_000709.4(BCKDHA):c.1227C>G (p.Phe409Leu) rs2098470870
NM_000709.4(BCKDHA):c.1313_1319del (p.Tyr438fs) rs2039407382
NM_000709.4(BCKDHA):c.308T>C (p.Leu103Pro)
NM_000709.4(BCKDHA):c.375+1G>A
NM_000709.4(BCKDHA):c.375+2T>G
NM_000709.4(BCKDHA):c.376-2A>G
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn) rs2122122610
NM_000709.4(BCKDHA):c.484G>A (p.Gly162Ser) rs2039285328
NM_000709.4(BCKDHA):c.566G>A (p.Arg189His)
NM_000709.4(BCKDHA):c.712G>A (p.Glu238Lys)
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg) rs1468416468
NM_000709.4(BCKDHA):c.745G>T (p.Gly249Cys) rs137852874
NM_000709.4(BCKDHA):c.746G>T (p.Gly249Val)
NM_000709.4(BCKDHA):c.853+1G>C
NM_000709.4(BCKDHA):c.853+2T>C
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly) rs764247545
NM_000709.4(BCKDHA):c.904G>A (p.Asp302Asn)
NM_000709.4(BCKDHA):c.905A>G (p.Asp302Gly)
NM_000709.4(BCKDHA):c.906T>A (p.Asp302Glu)
NM_000709.4(BCKDHA):c.981G>C (p.Glu327Asp) rs2039382789
NM_000709.4(BCKDHA):c.995+1G>A rs2039383036
NM_000709.4(BCKDHA):c.995+2T>C
NM_000709.4(BCKDHA):c.996-2A>G rs2122146208
NM_001024845.3(SLC6A9):c.31-6164G>C rs2154306852
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001080.3(ALDH5A1):c.1173+1G>T
NM_001080.3(ALDH5A1):c.1343_1344insTAA (p.Ile447_Lys448insAsn) rs2127389582
NM_001080.3(ALDH5A1):c.709G>A (p.Ala237Thr) rs62621664
NM_001080.3(ALDH5A1):c.727-18_733del
NM_001127221.2(CACNA1A):c.5532-2A>G
NM_001127221.2(CACNA1A):c.5585C>T (p.Pro1862Leu) rs2144616690
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1345+1G>A rs2145114772
NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)
NM_001127222.2(CACNA1A):c.1555+2del rs1600313212
NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn)
NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His)
NM_001127222.2(CACNA1A):c.1913+1G>A
NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala)
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met) rs2144979269
NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys) rs886037944
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3823-1G>C
NM_001127222.2(CACNA1A):c.399+1G>A rs2060983144
NM_001127222.2(CACNA1A):c.3990-2A>G rs1057524483
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp) rs1064794858
NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln)
NM_001127222.2(CACNA1A):c.4089+1G>A
NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala) rs2144767386
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met) rs121908237
NM_001127222.2(CACNA1A):c.4866+1G>T rs2144725957
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) rs794727558
NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser)
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe) rs1568447557
NM_001127222.2(CACNA1A):c.5068-1G>A rs2144648058
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del) rs2144647916
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu) rs2144647855
NM_001127222.2(CACNA1A):c.5133+2T>A
NM_001127222.2(CACNA1A):c.5134-2del
NM_001127222.2(CACNA1A):c.5273ACA[1] (p.Asn1759del) rs2055675454
NM_001127222.2(CACNA1A):c.540-1G>C rs2144559526
NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val)
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr) rs2055612479
NM_001127222.2(CACNA1A):c.5839+1G>C rs951196653
NM_001127222.2(CACNA1A):c.5840-2A>G rs2144536202
NM_001127222.2(CACNA1A):c.5840-2A>T rs2144536202
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.5940+1G>A rs2144535495
NM_001127222.2(CACNA1A):c.6189+1G>A rs2144524396
NM_001127222.2(CACNA1A):c.6190-2A>C rs1064796709
NM_001127222.2(CACNA1A):c.631+2T>C
NM_001127222.2(CACNA1A):c.676_784+1178del
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser) rs1555774859
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg) rs1555774859
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly) rs2059067761
NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu)
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln) rs150487794
NM_001243279.3(ACSF3):c.1126+1G>A rs916461556
NM_001243279.3(ACSF3):c.1127-2A>T
NM_001243279.3(ACSF3):c.1231_1239+9del
NM_001243279.3(ACSF3):c.1240-1G>C
NM_001243279.3(ACSF3):c.1366+1G>A
NM_001243279.3(ACSF3):c.1367-2_1367-1del
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs) rs1912702795
NM_001243279.3(ACSF3):c.1501+1G>A
NM_001243279.3(ACSF3):c.1501+1G>T
NM_001243279.3(ACSF3):c.1502-1G>C
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs) rs1914445437
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) rs140328142
NM_001243279.3(ACSF3):c.666+1G>T
NM_001243279.3(ACSF3):c.667-1G>T
NM_001243279.3(ACSF3):c.667-2A>G
NM_001243279.3(ACSF3):c.822+1G>A rs2151416991
NM_001243279.3(ACSF3):c.822+2T>C rs1975502704
NM_001243279.3(ACSF3):c.823-1G>A
NM_001243279.3(ACSF3):c.977+1G>A
NM_001243279.3(ACSF3):c.977+1G>C rs141056046
NM_001243279.3(ACSF3):c.977+1G>T
NM_001243279.3(ACSF3):c.978-2A>G
NM_001258392.3(CLPB):c.1066+1G>A rs1555087619
NM_001258392.3(CLPB):c.1329+1G>A rs2135500473
NM_001258392.3(CLPB):c.1560+2_1560+5del
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1681-1G>A
NM_001258392.3(CLPB):c.775+1G>A
NM_001258392.3(CLPB):c.873+1G>A rs974377052
NM_001278293.3(ARL6):c.123+1G>A
NM_001278293.3(ARL6):c.254+1G>A
NM_001278293.3(ARL6):c.255-1_256del
NM_001278293.3(ARL6):c.350-13_350-2del rs1576465252
NM_001278293.3(ARL6):c.350-2A>C
NM_001278293.3(ARL6):c.479+1G>A rs1324418374
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) rs119103227
NM_001352514.2(HLCS):c.1437+1G>A
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu) rs1198548955
NM_001352514.2(HLCS):c.1621-1G>C rs1164174059
NM_001352514.2(HLCS):c.1621-2A>T
NM_001352514.2(HLCS):c.1892+1G>A
NM_001352514.2(HLCS):c.1960+1G>A rs2090068896
NM_001352514.2(HLCS):c.2114_2121+5del
NM_001352514.2(HLCS):c.2237-2A>G
NM_001352514.2(HLCS):c.2237-56_2255del rs2145732111
NM_001352514.2(HLCS):c.494-1G>A
NM_001352514.2(HLCS):c.494-2A>T
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys) rs397514415
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly) rs2065662435
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile) rs796051941
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu) rs397514428
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr) rs397514350
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg) rs955385869
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser) rs397514371
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu) rs398123140
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu) rs397514438
NM_001370658.1(BTD):c.710T>A (p.Val237Asp) rs1190721481
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001370658.1(BTD):c.827T>G (p.Val276Gly) rs397514391
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
NM_001482.3(GATM):c.1043-1G>C
NM_001482.3(GATM):c.288+2_288+11del
NM_001482.3(GATM):c.289-1_292del
NM_001482.3(GATM):c.676-1G>C
NM_001482.3(GATM):c.69+1G>A
NM_001482.3(GATM):c.70-2A>C
NM_001482.3(GATM):c.979-1_979insT
NM_001609.4(ACADSB):c.1128+1_1128+3del rs1228768873
NM_001609.4(ACADSB):c.1228+1G>A rs943046481
NM_001609.4(ACADSB):c.202+1G>C
NM_001609.4(ACADSB):c.901-2A>G
NM_001698.3(AUH):c.584A>C (p.Asp195Ala) rs1827482942
NM_001698.3(AUH):c.599-2A>G rs1587799880
NM_001875.5(CPS1):c.1086+1G>A rs1553511326
NM_001875.5(CPS1):c.1164+1G>A
NM_001875.5(CPS1):c.1165-2A>G rs1305369403
NM_001875.5(CPS1):c.1264-1G>T
NM_001875.5(CPS1):c.127-2A>G
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp) rs1553511785
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro) rs772497399
NM_001875.5(CPS1):c.1360-1G>C
NM_001875.5(CPS1):c.1549+1G>A
NM_001875.5(CPS1):c.1759C>T (p.Arg587Cys)
NM_001875.5(CPS1):c.1836+2T>C rs1574577755
NM_001875.5(CPS1):c.1981+1G>C
NM_001875.5(CPS1):c.2375T>C (p.Met792Thr)
NM_001875.5(CPS1):c.2376G>C (p.Met792Ile) rs1553513429
NM_001875.5(CPS1):c.2391+1G>T rs1553513433
NM_001875.5(CPS1):c.2548C>T (p.Arg850Cys)
NM_001875.5(CPS1):c.2568+1G>A
NM_001875.5(CPS1):c.2830-1G>C
NM_001875.5(CPS1):c.2830-1G>T rs1700129715
NM_001875.5(CPS1):c.2895+1G>A
NM_001875.5(CPS1):c.3141+2T>C rs2105901763
NM_001875.5(CPS1):c.3266G>A (p.Arg1089His)
NM_001875.5(CPS1):c.3266G>C (p.Arg1089Pro)
NM_001875.5(CPS1):c.3336+1G>A rs1700437565
NM_001875.5(CPS1):c.3337-1G>T rs1700452978
NM_001875.5(CPS1):c.3405-2A>G rs2105910926
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys) rs146968493
NM_001875.5(CPS1):c.3559-2A>G rs766584384
NM_001875.5(CPS1):c.3559G>T (p.Val1187Phe)
NM_001875.5(CPS1):c.3666+2del
NM_001875.5(CPS1):c.3683_3756+772del
NM_001875.5(CPS1):c.3757-1G>A rs2105922845
NM_001875.5(CPS1):c.381+2T>C rs1574543988
NM_001875.5(CPS1):c.4002+2T>A rs1553518395
NM_001875.5(CPS1):c.4003-2A>C
NM_001875.5(CPS1):c.4088_4099del (p.Leu1363_Ile1366del) rs766705843
NM_001875.5(CPS1):c.4161+1G>A
NM_001875.5(CPS1):c.4358G>A (p.Arg1453Gln) rs1559142152
NM_001875.5(CPS1):c.528+2T>C rs1574548003
NM_001875.5(CPS1):c.622-2A>G rs2106103778
NM_001875.5(CPS1):c.840+1G>T rs1206168005
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn) rs753751183
NM_001918.5(DBT):c.1017+1G>A
NM_001918.5(DBT):c.1017+1G>T
NM_001918.5(DBT):c.1018-2A>T
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.1210-1G>C
NM_001918.5(DBT):c.1238T>C (p.Ile413Thr)
NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)
NM_001918.5(DBT):c.1281+1G>C rs1557943881
NM_001918.5(DBT):c.175+1G>A rs2100844517
NM_001918.5(DBT):c.252-1G>T rs1663522846
NM_001918.5(DBT):c.311A>T (p.Asp104Val) rs1553232188
NM_001918.5(DBT):c.434-1G>A rs754004231
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_001918.5(DBT):c.772+1G>C rs2100799417
NM_001918.5(DBT):c.772+2T>G
NM_001918.5(DBT):c.872G>A (p.Arg291Gln)
NM_001918.5(DBT):c.917C>G (p.Ser306Cys) rs794727856
NM_001958.5(EEF1A2):c.1150G>C (p.Gly384Arg) rs1555883384
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met) rs2082362479
NM_001958.5(EEF1A2):c.50_51delinsGA (p.Asp17Gly) rs2145946848
NM_001958.5(EEF1A2):c.863A>G (p.Glu288Gly) rs1555883501
NM_002150.3(HPD):c.31-1G>A
NM_002150.3(HPD):c.4-2A>G
NM_002150.3(HPD):c.414+1G>C
NM_002150.3(HPD):c.597-1G>A
NM_002150.3(HPD):c.93+2T>C
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
NM_002225.5(IVD):c.144+1G>A rs928991928
NM_002225.5(IVD):c.145-2A>T
NM_002225.5(IVD):c.149G>T (p.Arg50Leu)
NM_002225.5(IVD):c.287-2A>C rs781340220
NM_002225.5(IVD):c.359G>A (p.Gly120Glu)
NM_002225.5(IVD):c.457-1G>A
NM_002225.5(IVD):c.457-2A>T rs771914739
NM_002225.5(IVD):c.457C>G (p.Leu153Val) rs763665120
NM_002225.5(IVD):c.467G>C (p.Gly156Ala) rs1221254988
NM_002225.5(IVD):c.685_687+15del rs2141332016
NM_002225.5(IVD):c.687+1G>C rs2141332035
NM_002225.5(IVD):c.687+2T>C rs2141332040
NM_002225.5(IVD):c.785-2A>T
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.878+1G>A rs745629936
NM_002225.5(IVD):c.961-2A>T rs1057517056
NM_002225.5(IVD):c.967C>G (p.Gln323Glu) rs1891639284
NM_002225.5(IVD):c.977T>C (p.Met326Thr) rs1891640609
NM_002454.3(MTRR):c.1146+1G>C rs772608494
NM_002454.3(MTRR):c.130-1G>A
NM_002454.3(MTRR):c.1327+1G>A
NM_002454.3(MTRR):c.1371-1G>A rs1219605974
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1677-1G>A
NM_002454.3(MTRR):c.1A>G (p.Met1Val) rs1747827267
NM_002454.3(MTRR):c.283+1G>A
NM_002454.3(MTRR):c.283+1_283+20del rs1748371268
NM_002454.3(MTRR):c.401+2_401+7del rs2126676051
NM_002454.3(MTRR):c.402-1G>C
NM_002454.3(MTRR):c.402-1G>T rs1734858651
NM_002454.3(MTRR):c.402-2A>G rs2126692827
NM_002454.3(MTRR):c.781-2A>C
NM_002454.3(MTRR):c.904-1G>T
NM_002454.3(MTRR):c.904-2A>G
NM_002454.3(MTRR):c.973_1146+462del
NM_002860.4(ALDH18A1):c.1152+1G>A
NM_002860.4(ALDH18A1):c.1468-2A>C
NM_002860.4(ALDH18A1):c.408C>A (p.Ser136Arg)
NM_002860.4(ALDH18A1):c.809-1G>A rs1202802893
NM_002860.4(ALDH18A1):c.933+1G>A rs2139593958
NM_003060.4(SLC22A5):c.1053-6T>C rs1752665099
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)
NM_003060.4(SLC22A5):c.1088T>C (p.Leu363Pro) rs386134214
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)
NM_003060.4(SLC22A5):c.113C>G (p.Ser38Cys)
NM_003060.4(SLC22A5):c.1299G>A (p.Met433Ile)
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys) rs1183338050
NM_003060.4(SLC22A5):c.136C>G (p.Pro46Ala) rs202088921
NM_003060.4(SLC22A5):c.1384G>A (p.Gly462Ser) rs1193551446
NM_003060.4(SLC22A5):c.1399T>C (p.Ser467Pro)
NM_003060.4(SLC22A5):c.1411C>A (p.Arg471Ser) rs749282641
NM_003060.4(SLC22A5):c.1432C>T (p.Pro478Ser) rs2126791630
NM_003060.4(SLC22A5):c.1531G>C (p.Glu511Gln)
NM_003060.4(SLC22A5):c.247C>T (p.Arg83Cys) rs749499293
NM_003060.4(SLC22A5):c.248G>C (p.Arg83Pro) rs72552726
NM_003060.4(SLC22A5):c.250T>A (p.Tyr84Asn)
NM_003060.4(SLC22A5):c.272A>C (p.Asn91Thr)
NM_003060.4(SLC22A5):c.308T>G (p.Val103Gly)
NM_003060.4(SLC22A5):c.34G>C (p.Gly12Arg)
NM_003060.4(SLC22A5):c.427C>T (p.Pro143Ser)
NM_003060.4(SLC22A5):c.43G>A (p.Gly15Arg)
NM_003060.4(SLC22A5):c.503G>A (p.Gly168Asp) rs1752440697
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser) rs1319889867
NM_003060.4(SLC22A5):c.55C>T (p.Arg19Cys) rs1319889867
NM_003060.4(SLC22A5):c.641C>G (p.Ala214Gly)
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.679C>G (p.Arg227Gly)
NM_003060.4(SLC22A5):c.680G>T (p.Arg227Leu) rs185551386
NM_003060.4(SLC22A5):c.719C>T (p.Ala240Val)
NM_003060.4(SLC22A5):c.78C>G (p.Ser26Arg)
NM_003060.4(SLC22A5):c.824+1G>A rs1417000465
NM_003060.4(SLC22A5):c.825-1G>C rs1057516805
NM_003060.4(SLC22A5):c.839C>A (p.Ser280Tyr) rs386134208
NM_003060.4(SLC22A5):c.844C>G (p.Arg282Gly) rs121908886
NM_003060.4(SLC22A5):c.849G>T (p.Trp283Cys) rs386134211
NM_003060.4(SLC22A5):c.84C>A (p.Ser28Arg) rs773693788
NM_003060.4(SLC22A5):c.901G>A (p.Ala301Thr) rs2126786122
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)
NM_003060.4(SLC22A5):c.94A>G (p.Asn32Asp) rs727504158
NM_003060.4(SLC22A5):c.952-1G>T
NM_003060.4(SLC22A5):c.952-5_955del rs2126787981
NM_003748.4(ALDH4A1):c.298-1G>C rs1557620472
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_003982.4(SLC7A7):c.1245+2T>C
NM_003982.4(SLC7A7):c.1246-26_1248del rs2038542991
NM_003982.4(SLC7A7):c.1A>G (p.Met1Val)
NM_003982.4(SLC7A7):c.2T>C (p.Met1Thr)
NM_003982.4(SLC7A7):c.499+2T>G
NM_003982.4(SLC7A7):c.626-2A>G
NM_003982.4(SLC7A7):c.770+1G>A
NM_003982.4(SLC7A7):c.770+1G>T rs1264298481
NM_003982.4(SLC7A7):c.998G>T (p.Arg333Met) rs386833829
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly) rs1835085971
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp) rs1833622746
NM_004408.4(DNM1):c.1343A>C (p.Gln448Pro)
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu) rs1554781553
NM_004408.4(DNM1):c.1726G>A (p.Glu576Lys) rs2131283599
NM_004408.4(DNM1):c.236-2A>C
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) rs1554772959
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) rs1057524561
NM_004937.3(CTNS):c.141-1G>A rs2075906916
NM_004937.3(CTNS):c.225+3A>T
NM_004937.3(CTNS):c.225+5G>A
NM_004937.3(CTNS):c.225+5_225+8del rs1555561048
NM_004937.3(CTNS):c.226-1G>C
NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp) rs121908126
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg) rs764168489
NM_004937.3(CTNS):c.546G>T (p.Trp182Cys) rs2150922764
NM_004937.3(CTNS):c.562-1G>C
NM_004937.3(CTNS):c.61+1G>T rs1555558116
NM_004937.3(CTNS):c.809C>T (p.Ser270Phe) rs2150925336
NM_004937.3(CTNS):c.852+1G>A rs2150925483
NM_004937.3(CTNS):c.853-1G>A rs1555564588
NM_004974.4(KCNA2):c.1210T>A (p.Leu404Ile) rs2101396443
NM_004974.4(KCNA2):c.1219C>T (p.Pro407Ser) rs1557731896
NM_004974.4(KCNA2):c.1223T>G (p.Val408Gly) rs1570752696
NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs) rs1064796294
NM_004974.4(KCNA2):c.881G>C (p.Arg294Pro)
NM_004974.4(KCNA2):c.900A>T (p.Arg300Ser) rs2101398595
NM_004974.4(KCNA2):c.988C>T (p.Leu330Phe)
NM_004975.4(KCNB1):c.1088del (p.Ser363fs) rs1555889103
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val) rs1984248540
NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu)
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr) rs1555889084
NM_004975.4(KCNB1):c.1202G>C (p.Gly401Ala)
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) rs1601071099
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.1769G>A (p.Ser590Asn) rs2146812849
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys) rs1984276555
NM_004975.4(KCNB1):c.628A>G (p.Thr210Ala) rs2146814335
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln) rs1057518621
NM_004975.4(KCNB1):c.919A>G (p.Ile307Val) rs1984261678
NM_004975.4(KCNB1):c.935G>C (p.Arg312Pro)
NM_004975.4(KCNB1):c.956C>A (p.Ser319Tyr) rs1984259606
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp) rs1276378675
NM_005050.4(ABCD4):c.1457-1G>C
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005629.4(SLC6A8):c.1016+2_1016+5del rs2148363006
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg) rs1603217473
NM_005629.4(SLC6A8):c.1513GAC[1] (p.Asp506del) rs2091477188
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) rs397515558
NM_005629.4(SLC6A8):c.263-3_271del
NM_005629.4(SLC6A8):c.342G>C (p.Gln114His) rs2091449037
NM_005629.4(SLC6A8):c.394+2T>G
NM_005629.4(SLC6A8):c.912+2T>G rs2091466607
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)
NM_005957.5(MTHFR):c.1032-12_1038del rs2100528352
NM_005957.5(MTHFR):c.1032-1G>C
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His) rs977038830
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) rs200137991
NM_005957.5(MTHFR):c.1530+1G>A
NM_005957.5(MTHFR):c.1530+1G>T
NM_005957.5(MTHFR):c.1531-1G>C
NM_005957.5(MTHFR):c.1603C>T (p.Arg535Trp)
NM_005957.5(MTHFR):c.1749_1752+7del
NM_005957.5(MTHFR):c.1752+1G>T rs747846362
NM_005957.5(MTHFR):c.237-2A>C rs1644381879
NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr) rs147257424
NM_005957.5(MTHFR):c.475+1G>A rs748397580
NM_005957.5(MTHFR):c.475+1G>T rs748397580
NM_005957.5(MTHFR):c.476-1G>A rs2100562061
NM_005957.5(MTHFR):c.584C>T (p.Ala195Val) rs760161369
NM_005957.5(MTHFR):c.780+1G>A
NM_006623.4(PHGDH):c.1078+1G>A rs1224279673
NM_006623.4(PHGDH):c.1079-2A>G rs2101220673
NM_006623.4(PHGDH):c.138+1G>T
NM_006623.4(PHGDH):c.139-2A>G
NM_006623.4(PHGDH):c.1437_1440del (p.Pro479_Thr480insTer) rs2101225889
NM_006623.4(PHGDH):c.291-1G>A rs2101160151
NM_006623.4(PHGDH):c.356+2T>G rs1651264976
NM_006623.4(PHGDH):c.411+2T>C rs1302054606
NM_006623.4(PHGDH):c.412-1G>A
NM_006623.4(PHGDH):c.412-1G>C rs1651455730
NM_006623.4(PHGDH):c.511-2A>G rs2101195348
NM_006623.4(PHGDH):c.643+1G>A
NM_006623.4(PHGDH):c.945+1G>A rs758517215
NM_006623.4(PHGDH):c.945+1G>T rs758517215
NM_006623.4(PHGDH):c.946-2A>G rs1217925678
NM_012213.3(MLYCD):c.1065_1066insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGGAATGAACTCTTT (p.Phe355_Thr356insPhePhePhePhePhePheXaaXaaXaaXaaArgAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProArgAsnGluLeuPhe)
NM_012213.3(MLYCD):c.520_528+11del
NM_012213.3(MLYCD):c.528+2T>A
NM_012213.3(MLYCD):c.529-1G>C
NM_012213.3(MLYCD):c.641+2T>C
NM_012213.3(MLYCD):c.799-2A>G
NM_014251.3(SLC25A13):c.1178-1G>C
NM_014251.3(SLC25A13):c.1178-1G>T rs1794001446
NM_014251.3(SLC25A13):c.1316G>A (p.Gly439Glu)
NM_014251.3(SLC25A13):c.1452+1G>A rs2116481274
NM_014251.3(SLC25A13):c.15+2T>C
NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp) rs80338724
NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met) rs548769905
NM_014251.3(SLC25A13):c.1750+1G>C rs771583670
NM_014251.3(SLC25A13):c.1750+2T>C
NM_014251.3(SLC25A13):c.1841+3_1841+4del
NM_014251.3(SLC25A13):c.213-2A>C
NM_014251.3(SLC25A13):c.213-2A>G
NM_014251.3(SLC25A13):c.328+1G>T rs1796684525
NM_014251.3(SLC25A13):c.329-1G>A
NM_014251.3(SLC25A13):c.329-2A>G
NM_014251.3(SLC25A13):c.415G>A (p.Gly139Arg) rs1269555090
NM_014251.3(SLC25A13):c.469-2A>G
NM_014251.3(SLC25A13):c.70-1G>T rs962082210
NM_014251.3(SLC25A13):c.755-1G>C
NM_014251.3(SLC25A13):c.934-2A>T rs1794574986
NM_014252.4(SLC25A15):c.208_209delinsTT (p.Ala70Leu) rs1064793683
NM_014252.4(SLC25A15):c.315-1G>A rs2138053997
NM_014252.4(SLC25A15):c.337G>T (p.Gly113Cys) rs199894905
NM_014252.4(SLC25A15):c.338G>T (p.Gly113Val) rs2138054088
NM_014252.4(SLC25A15):c.452+2T>C rs1882127556
NM_014252.4(SLC25A15):c.453-2A>C
NM_014252.4(SLC25A15):c.56-1G>A
NM_014252.4(SLC25A15):c.622+1G>A rs957788324
NM_014362.4(HIBCH):c.385+2T>A rs2105985080
NM_014362.4(HIBCH):c.439-2A>G rs1180861300
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe) rs74832989
NM_014362.4(HIBCH):c.664-2A>G
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014384.3(ACAD8):c.1A>G (p.Met1Val)
NM_014384.3(ACAD8):c.3G>C (p.Met1Ile)
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys) rs779385985
NM_014384.3(ACAD8):c.939+1G>T
NM_015506.3(MMACHC):c.276+2T>C
NM_015506.3(MMACHC):c.276+2del
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.277-1G>A
NM_015506.3(MMACHC):c.277-2A>G rs202000595
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met) rs2149323564
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val) rs2149323564
NM_015506.3(MMACHC):c.366T>A (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.366T>G (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser) rs768353633
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015662.3(IFT172):c.1326-1G>A
NM_015662.3(IFT172):c.1411+2T>C
NM_015662.3(IFT172):c.1524+2_1524+3del rs769575051
NM_015662.3(IFT172):c.1693-1G>A
NM_015662.3(IFT172):c.184-2A>C rs2148559396
NM_015662.3(IFT172):c.2116-2A>G
NM_015662.3(IFT172):c.2521+1G>A
NM_015662.3(IFT172):c.2521+1G>T rs2148505406
NM_015662.3(IFT172):c.3111+1G>T
NM_015662.3(IFT172):c.336+2T>G
NM_015662.3(IFT172):c.3712-2A>T
NM_015662.3(IFT172):c.3822-2_3822-1del
NM_015662.3(IFT172):c.3952-1G>C rs2148479160
NM_015662.3(IFT172):c.402+2T>C
NM_015662.3(IFT172):c.4051-1G>A rs1665487115
NM_015662.3(IFT172):c.4311+1G>A rs2148477195
NM_015662.3(IFT172):c.4429-178_4436del
NM_015662.3(IFT172):c.4733A>G (p.Tyr1578Cys)
NM_015662.3(IFT172):c.4815+1G>A
NM_015662.3(IFT172):c.4815+2_4815+3del rs2148467424
NM_015662.3(IFT172):c.482+1G>A
NM_015662.3(IFT172):c.4914+1G>A
NM_015662.3(IFT172):c.5069-2A>G rs2148464837
NM_015662.3(IFT172):c.786-2A>G
NM_015662.3(IFT172):c.786-2A>T
NM_015662.3(IFT172):c.910-2A>G rs2148546998
NM_015702.3(MMADHC):c.10-1G>A
NM_015702.3(MMADHC):c.10-2A>G
NM_015702.3(MMADHC):c.154+1G>C rs1385597423
NM_015702.3(MMADHC):c.155-2A>G
NM_015702.3(MMADHC):c.373-1G>A rs764179800
NM_015702.3(MMADHC):c.478+1G>C
NM_015702.3(MMADHC):c.9+1G>A
NM_016335.6(PRODH):c.1104+2T>C
NM_018368.4(LMBRD1):c.1084-1G>A
NM_018368.4(LMBRD1):c.1187_1188+2del
NM_018368.4(LMBRD1):c.1189-1G>A rs2149843526
NM_018368.4(LMBRD1):c.1338+1G>C
NM_018368.4(LMBRD1):c.307+2del
NM_018368.4(LMBRD1):c.308-1G>A
NM_018368.4(LMBRD1):c.405+2T>C
NM_018368.4(LMBRD1):c.562+1G>C
NM_018368.4(LMBRD1):c.562+1G>T
NM_018368.4(LMBRD1):c.69+1G>A
NM_018368.4(LMBRD1):c.69+2T>G
NM_018368.4(LMBRD1):c.762+1G>A
NM_018368.4(LMBRD1):c.763-2A>C
NM_018368.4(LMBRD1):c.763-2A>G
NM_018368.4(LMBRD1):c.763-6_771del
NM_018706.7(DHTKD1):c.1159+1G>A
NM_018706.7(DHTKD1):c.1160-1G>C
NM_018706.7(DHTKD1):c.1756+1G>C
NM_018706.7(DHTKD1):c.1756+2T>C
NM_018706.7(DHTKD1):c.2402+1G>A
NM_018706.7(DHTKD1):c.2572+1G>A
NM_018706.7(DHTKD1):c.310+2T>C
NM_020166.5(MCCC1):c.1084-1G>C rs2108479565
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro) rs755328329
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly) rs1553854969
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) rs119103215
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu) rs398124352
NM_020166.5(MCCC1):c.1378-1G>T rs2108470990
NM_020166.5(MCCC1):c.1378-2A>G
NM_020166.5(MCCC1):c.1594+1G>A rs966900131
NM_020166.5(MCCC1):c.1595-1G>C rs1337201010
NM_020166.5(MCCC1):c.1595-2A>G rs1235781420
NM_020166.5(MCCC1):c.1731+1G>A
NM_020166.5(MCCC1):c.1732-1G>T rs763877330
NM_020166.5(MCCC1):c.176A>G (p.Glu59Gly)
NM_020166.5(MCCC1):c.1869+1G>A
NM_020166.5(MCCC1):c.1870-2A>G
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020166.5(MCCC1):c.273+1G>C
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr) rs776254500
NM_020166.5(MCCC1):c.369+2T>C
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu) rs1182086058
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.761+1G>A
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del) rs1715495987
NM_020166.5(MCCC1):c.873+1G>A
NM_020166.5(MCCC1):c.89+1G>A rs771730236
NM_020166.5(MCCC1):c.90-1G>A
NM_020166.5(MCCC1):c.90-1G>C rs1718608300
NM_020166.5(MCCC1):c.955+1G>A rs1340827377
NM_020166.5(MCCC1):c.955+1G>T
NM_020686.6(ABAT):c.1123-1G>A rs1596472500
NM_020686.6(ABAT):c.199-2A>C
NM_020686.6(ABAT):c.317-2A>G
NM_020686.6(ABAT):c.603+1G>A rs2142947295
NM_020686.6(ABAT):c.631C>T (p.Leu211Phe) rs724159990
NM_022132.5(MCCC2):c.1000-2A>G rs2112453728
NM_022132.5(MCCC2):c.1072+1G>A
NM_022132.5(MCCC2):c.1127T>C (p.Leu376Pro)
NM_022132.5(MCCC2):c.1149+1G>A rs2112460011
NM_022132.5(MCCC2):c.1149+1G>T rs2112460011
NM_022132.5(MCCC2):c.1189C>G (p.Pro397Ala) rs2112463755
NM_022132.5(MCCC2):c.1216+2T>C rs1554138265
NM_022132.5(MCCC2):c.1268C>A (p.Ala423Asp)
NM_022132.5(MCCC2):c.129+1G>T rs1744812773
NM_022132.5(MCCC2):c.130-2A>G
NM_022132.5(MCCC2):c.1366G>C (p.Ala456Pro)
NM_022132.5(MCCC2):c.1373+2T>G rs2112468012
NM_022132.5(MCCC2):c.1441G>T (p.Val481Leu)
NM_022132.5(MCCC2):c.1450A>C (p.Thr484Pro) rs1554138549
NM_022132.5(MCCC2):c.1488+1G>A rs2112469361
NM_022132.5(MCCC2):c.1574+1G>T rs730880265
NM_022132.5(MCCC2):c.1667C>A (p.Thr556Asn)
NM_022132.5(MCCC2):c.1667C>T (p.Thr556Ile) rs1049171546
NM_022132.5(MCCC2):c.281+1G>T rs1580273474
NM_022132.5(MCCC2):c.282-9_285del rs2112308599
NM_022132.5(MCCC2):c.384-2A>G rs1745476784
NM_022132.5(MCCC2):c.416C>T (p.Thr139Ile)
NM_022132.5(MCCC2):c.467C>T (p.Ala156Val)
NM_022132.5(MCCC2):c.511+1G>A rs1165990855
NM_022132.5(MCCC2):c.511+1G>T
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp) rs752866557
NM_022132.5(MCCC2):c.586T>C (p.Tyr196His) rs2112329234
NM_022132.5(MCCC2):c.652G>T (p.Ala218Ser)
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
NM_022132.5(MCCC2):c.68A>C (p.Tyr23Ser)
NM_022132.5(MCCC2):c.68A>G (p.Tyr23Cys)
NM_022132.5(MCCC2):c.693C>G (p.Ile231Met) rs991996366
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg) rs781559418
NM_022132.5(MCCC2):c.738+2T>G
NM_022132.5(MCCC2):c.739-2A>G rs2112427637
NM_022132.5(MCCC2):c.903+1G>T rs2112437820
NM_022132.5(MCCC2):c.903+2T>G
NM_022132.5(MCCC2):c.904-2A>T
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) rs1443551700
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_025136.4(OPA3):c.152G>A (p.Trp51Ter)
NM_025136.4(OPA3):c.1A>G (p.Met1Val) rs1230629432
NM_032601.4(MCEE):c.375_378+4del
NM_032601.4(MCEE):c.379-644A>G
NM_032601.4(MCEE):c.40+1G>T
NM_032861.4(SERAC1):c.1684+1G>T rs2128410576
NM_032861.4(SERAC1):c.1684+2T>C
NM_052845.4(MMAB):c.134+1G>T
NM_052845.4(MMAB):c.134+2T>A
NM_052845.4(MMAB):c.290+1G>A rs1351673148
NM_052845.4(MMAB):c.2T>G (p.Met1Arg) rs869320655
NM_052845.4(MMAB):c.421+1G>A rs2136199734
NM_052845.4(MMAB):c.422-1G>A
NM_052845.4(MMAB):c.422-1G>C rs2136199436
NM_052845.4(MMAB):c.519+1G>A rs1592998207
NM_052845.4(MMAB):c.557G>C (p.Arg186Pro)
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup) rs864309512
NM_052845.4(MMAB):c.581_582del (p.Arg194fs) rs1592997663
NM_052845.4(MMAB):c.644+1G>A rs1592996077
NM_054012.4(ASS1):c.1130T>C (p.Met377Thr)
NM_054012.4(ASS1):c.1157_1158del (p.Thr386fs) rs1846687897
NM_054012.4(ASS1):c.214T>A (p.Phe72Ile)
NM_054012.4(ASS1):c.286C>A (p.Pro96Thr) rs2131874080
NM_054012.4(ASS1):c.363+1G>A
NM_054012.4(ASS1):c.364-2A>T rs774231051
NM_054012.4(ASS1):c.379C>G (p.Arg127Gly) rs771794639
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_054012.4(ASS1):c.495+1G>C rs1845754405
NM_054012.4(ASS1):c.495+1G>T rs1845754405
NM_054012.4(ASS1):c.495+2T>C rs2131882609
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile) rs121908638
NM_054012.4(ASS1):c.688+1G>C
NM_054012.4(ASS1):c.688+2T>C rs2118832404
NM_054012.4(ASS1):c.688+2del rs2118832409
NM_054012.4(ASS1):c.774-2A>G rs1588496214
NM_054012.4(ASS1):c.839-2A>T rs2118864015
NM_054012.4(ASS1):c.95_105+4del
NM_058179.4(PSAT1):c.122-1G>C rs772958302
NM_058179.4(PSAT1):c.43_60+9del
NM_058179.4(PSAT1):c.570+2_570+15del rs2118643983
NM_058179.4(PSAT1):c.571-1G>A rs1828216198
NM_145261.4(DNAJC19):c.210-2A>G
NM_145261.4(DNAJC19):c.280+1_280+5del rs753055824
NM_145261.4(DNAJC19):c.4-1G>A rs878852999
NM_145261.4(DNAJC19):c.4-24_15del
NM_145261.4(DNAJC19):c.55+1G>A rs2108509746
NM_152419.3(HGSNAT):c.1013-1G>C rs1804147747
NM_152419.3(HGSNAT):c.118+2T>C rs2130648749
NM_152419.3(HGSNAT):c.118+5G>A rs1174944521
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1378-2A>G rs2130810560
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln) rs753355844
NM_152419.3(HGSNAT):c.1543-2A>G rs1804769861
NM_152419.3(HGSNAT):c.1614-1G>C
NM_152419.3(HGSNAT):c.1614-2A>T rs1554537807
NM_152419.3(HGSNAT):c.1621T>A (p.Ser541Thr) rs2130821593
NM_152419.3(HGSNAT):c.1726+1G>A
NM_152419.3(HGSNAT):c.563+1G>C
NM_152419.3(HGSNAT):c.563+2T>A rs2130722124
NM_152419.3(HGSNAT):c.564-1G>A
NM_152419.3(HGSNAT):c.634-2A>G
NM_152419.3(HGSNAT):c.744-2A>C
NM_152419.3(HGSNAT):c.773A>G (p.Asn258Ser) rs767574122
NM_152419.3(HGSNAT):c.818A>T (p.Asn273Ile)
NM_152419.3(HGSNAT):c.820+1G>A
NM_152419.3(HGSNAT):c.847C>T (p.Pro283Ser) rs2130754863
NM_153006.3(NAGS):c.1097-52_1105del rs2143989504
NM_153006.3(NAGS):c.1113dup (p.Lys372fs) rs2143989730
NM_153006.3(NAGS):c.1268+1G>A rs1597866317
NM_153006.3(NAGS):c.1268+2T>C rs202041339
NM_153006.3(NAGS):c.1414_1415del (p.Phe472fs) rs2143991359
NM_153006.3(NAGS):c.701+1G>A rs2049082368
NM_153006.3(NAGS):c.915+1G>T rs1319006991
NM_153006.3(NAGS):c.915+2T>C
NM_172250.3(MMAA):c.1145del (p.His382fs)
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.440-2A>G
NM_172250.3(MMAA):c.562+1G>A rs869320656
NM_172250.3(MMAA):c.562+2T>C
NM_172250.3(MMAA):c.659T>C (p.Val220Ala) rs941689476
NM_172250.3(MMAA):c.820-1G>C rs1553959017
NM_172250.3(MMAA):c.820-2A>G
NM_172250.3(MMAA):c.832G>A (p.Gly278Ser)
NM_177550.5(SLC13A5):c.1156+1G>A rs1555541483
NM_177550.5(SLC13A5):c.1156+1_1156+5del
NM_177550.5(SLC13A5):c.1379C>A (p.Thr460Asn) rs2150964787
NM_177550.5(SLC13A5):c.1438-2A>G
NM_177550.5(SLC13A5):c.232-2A>G rs1973878360
NM_177550.5(SLC13A5):c.369-2A>G rs1973796030
NM_177550.5(SLC13A5):c.548-1G>A
NM_177550.5(SLC13A5):c.839+1G>A rs1973697345
NM_177550.5(SLC13A5):c.840-2A>G
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn) rs796051939
NM_183050.4(BCKDHB):c.274+1G>T
NM_183050.4(BCKDHB):c.274+2T>C
NM_183050.4(BCKDHB):c.343+1G>C rs1770503105
NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln) rs79761867
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)
NM_183050.4(BCKDHB):c.584A>G (p.Tyr195Cys)
NM_183050.4(BCKDHB):c.634-2A>G
NM_183050.4(BCKDHB):c.646A>G (p.Arg216Gly)
NM_183050.4(BCKDHB):c.742+1G>A rs1554190322
NM_183050.4(BCKDHB):c.767A>G (p.Tyr256Cys)
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)
NM_183050.4(BCKDHB):c.840+1G>A rs760538465
NM_183050.4(BCKDHB):c.841-1G>C rs962489830
NM_183050.4(BCKDHB):c.841-1G>T
NM_183050.4(BCKDHB):c.841-2A>G
NM_183050.4(BCKDHB):c.951+1G>A rs756647770
NM_183050.4(BCKDHB):c.952-2A>G rs1554205499
NM_183050.4(BCKDHB):c.991G>A (p.Ala331Thr) rs1777825845
NM_201253.3(CRB1):c.1055_1063del (p.Gly352_Cys354del)
NM_201253.3(CRB1):c.1147T>G (p.Cys383Gly)
NM_201253.3(CRB1):c.1171+1G>A
NM_201253.3(CRB1):c.1172-1G>T rs2125468776
NM_201253.3(CRB1):c.1172-2A>G rs2125468772
NM_201253.3(CRB1):c.1181G>T (p.Cys394Phe)
NM_201253.3(CRB1):c.1312T>A (p.Cys438Ser)
NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser) rs1664290387
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg) rs1664290387
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
NM_201253.3(CRB1):c.1430G>T (p.Gly477Val) rs1277758473
NM_201253.3(CRB1):c.1600A>G (p.Lys534Glu) rs2125470125
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro) rs1571524102
NM_201253.3(CRB1):c.1690G>A (p.Asp564Asn) rs757279881
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr) rs1471328495
NM_201253.3(CRB1):c.1840G>C (p.Gly614Arg)
NM_201253.3(CRB1):c.1922G>C (p.Gly641Ala) rs2125471502
NM_201253.3(CRB1):c.2053G>A (p.Gly685Arg) rs779069205
NM_201253.3(CRB1):c.2054G>C (p.Gly685Ala)
NM_201253.3(CRB1):c.2054G>T (p.Gly685Val) rs748175297
NM_201253.3(CRB1):c.2087G>A (p.Cys696Tyr)
NM_201253.3(CRB1):c.2128+1G>C rs2125472205
NM_201253.3(CRB1):c.2223G>A (p.Met741Ile) rs1664649489
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del) rs62635653
NM_201253.3(CRB1):c.2248G>A (p.Gly750Ser) rs2125483920
NM_201253.3(CRB1):c.2264T>C (p.Leu755Ser)
NM_201253.3(CRB1):c.2497G>T (p.Gly833Cys) rs1664671663
NM_201253.3(CRB1):c.2537G>A (p.Gly846Glu) rs772476137
NM_201253.3(CRB1):c.2548G>T (p.Gly850Cys)
NM_201253.3(CRB1):c.2549G>A (p.Gly850Asp) rs757137398
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg) rs1664678030
NM_201253.3(CRB1):c.2640T>G (p.Asn880Lys) rs2125485441
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr) rs1571544334
NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe)
NM_201253.3(CRB1):c.2695G>A (p.Gly899Arg)
NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr) rs1558133731
NM_201253.3(CRB1):c.2815T>C (p.Cys939Arg) rs1664775504
NM_201253.3(CRB1):c.2815T>G (p.Cys939Gly)
NM_201253.3(CRB1):c.2833G>C (p.Gly945Arg)
NM_201253.3(CRB1):c.2842+2T>C rs2125489334
NM_201253.3(CRB1):c.2842T>G (p.Cys948Gly)
NM_201253.3(CRB1):c.2843-1G>T rs878853368
NM_201253.3(CRB1):c.2927T>C (p.Ile976Thr) rs2125498956
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu) rs2125499116
NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro)
NM_201253.3(CRB1):c.3166G>C (p.Asp1056His)
NM_201253.3(CRB1):c.3653G>C (p.Cys1218Ser) rs1450635782
NM_201253.3(CRB1):c.3668G>C (p.Cys1223Ser)
NM_201253.3(CRB1):c.3749+1G>A rs2125501295
NM_201253.3(CRB1):c.3749+2_3749+3del rs1665120314
NM_201253.3(CRB1):c.3853T>C (p.Cys1285Arg) rs1665279918
NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)
NM_201253.3(CRB1):c.3863G>A (p.Gly1288Asp) rs533997742
NM_201253.3(CRB1):c.3878+1G>A rs748927280
NM_201253.3(CRB1):c.3878+2dup rs1665282720
NM_201253.3(CRB1):c.3913C>G (p.Pro1305Ala)
NM_201253.3(CRB1):c.3914C>G (p.Pro1305Arg)
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.3996C>G (p.Cys1332Trp) rs1665487563
NM_201253.3(CRB1):c.4006-1G>C rs752804194
NM_201253.3(CRB1):c.4207G>A (p.Glu1403Lys)
NM_201253.3(CRB1):c.4209G>T (p.Glu1403Asp) rs1490587812
NM_201253.3(CRB1):c.454T>C (p.Cys152Arg)
NM_201253.3(CRB1):c.585C>G (p.Cys195Trp)
NM_201253.3(CRB1):c.652+1G>A rs2125304900
NM_201253.3(CRB1):c.652+3_652+6del rs1658700284
NM_201253.3(CRB1):c.70+2T>A rs1654723466
NM_201253.3(CRB1):c.71-2A>G rs1383691293
NM_201253.3(CRB1):c.716G>A (p.Cys239Tyr)
NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu) rs2075181154
NM_205861.3(DHDDS):c.323+2_323+5del
NM_205861.3(DHDDS):c.441-2A>T rs922956992
NM_205861.3(DHDDS):c.650_657+54del
NM_205861.3(DHDDS):c.657+1G>A

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