ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Invitae

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1180
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HGVS dbSNP gnomAD frequency
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
NM_000293.3(PHKB):c.1127-2A>G rs535749057 0.00012
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) rs201042910 0.00008
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg) rs200401846 0.00007
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00007
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln) rs780634117 0.00006
NM_002103.5(GYS1):c.678+1G>A rs755305465 0.00006
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser) rs121918423 0.00006
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_005609.4(PYGM):c.2178-1G>A rs143670942 0.00005
NM_000035.4(ALDOB):c.379+1G>T rs138121153 0.00004
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000262.3(NAGA):c.324+1G>A rs140673721 0.00004
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro) rs1246249632 0.00004
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795 0.00004
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 0.00004
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu) rs760187622 0.00004
NM_005908.4(MANBA):c.1318-1G>T rs374545788 0.00004
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 0.00003
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262 0.00003
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg) rs755832705 0.00003
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln) rs754731091 0.00003
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000528.4(MAN2B1):c.2664+1G>A rs771953225 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001931.5(DLAT):c.976-1G>A rs367875541 0.00003
NM_002076.4(GNS):c.1308+2T>C rs750645480 0.00003
NM_002103.5(GYS1):c.119-2_120del rs1422043936 0.00003
NM_002637.4(PHKA1):c.2606+1G>A rs373517016 0.00003
NM_002863.5(PYGL):c.772+1G>A rs776545903 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_006859.4(LIAS):c.737+1G>A rs546751789 0.00003
NM_000035.4(ALDOB):c.800-2A>C rs199965465 0.00002
NM_000046.5(ARSB):c.305G>A (p.Arg102His) rs759356342 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00002
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00002
NM_000155.4(GALT):c.688-2A>C rs398123185 0.00002
NM_000199.5(SGSH):c.301T>C (p.Phe101Leu) rs1322090067 0.00002
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) rs104894642 0.00002
NM_000203.5(IDUA):c.1829-1G>A rs745915863 0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val) rs137854540 0.00002
NM_000404.4(GLB1):c.451G>A (p.Asp151Asn) rs375582374 0.00002
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala) rs779023917 0.00002
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 0.00002
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp) rs137853861 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 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_003384.3(VRK1):c.216+1G>C rs774518440 0.00002
NM_004130.4(GYG1):c.7+1G>A rs949456055 0.00002
NM_005609.4(PYGM):c.345+2T>A rs1219299972 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_005908.4(MANBA):c.378+1G>A rs142029636 0.00002
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp) rs374377679 0.00002
NM_005908.4(MANBA):c.550-1G>A rs760404534 0.00002
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser) rs780082503 0.00002
NM_000027.4(AGA):c.301G>A (p.Ala101Thr) rs752914246 0.00001
NM_000027.4(AGA):c.508-2A>G rs986682657 0.00001
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr) rs1270747182 0.00001
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000046.5(ARSB):c.275C>T (p.Thr92Met) rs751010538 0.00001
NM_000046.5(ARSB):c.628T>C (p.Tyr210His) rs769313336 0.00001
NM_000046.5(ARSB):c.691-1G>A rs778868348 0.00001
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg) rs398123124 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_000147.5(FUCA1):c.1229T>G (p.Leu410Arg) rs80358199 0.00001
NM_000151.4(G6PC1):c.356A>G (p.His119Arg) rs1401928680 0.00001
NM_000151.4(G6PC1):c.532C>T (p.Pro178Ser) rs763543607 0.00001
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229 0.00001
NM_000151.4(G6PC1):c.808G>C (p.Gly270Arg) rs1272803483 0.00001
NM_000151.4(G6PC1):c.884G>A (p.Arg295His) rs375212414 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser) rs892129065 0.00001
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala) rs1598582021 0.00001
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys) rs747373179 0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) rs1030961946 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.2482-2A>G rs756671283 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 0.00001
NM_000152.5(GAA):c.316C>T (p.Arg106Cys) rs915675670 0.00001
NM_000152.5(GAA):c.842G>A (p.Arg281Gln) rs772607616 0.00001
NM_000152.5(GAA):c.952A>T (p.Met318Leu) rs886044506 0.00001
NM_000154.2(GALK1):c.166-1G>C rs142772020 0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653 0.00001
NM_000155.4(GALT):c.142C>T (p.Arg48Cys) rs886042088 0.00001
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359 0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802 0.00001
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys) rs780431086 0.00001
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu) rs777589783 0.00001
NM_000158.4(GBE1):c.1803+2T>C rs539203557 0.00001
NM_000158.4(GBE1):c.2052+2T>C rs375596642 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000158.4(GBE1):c.993-1G>T rs763016962 0.00001
NM_000181.4(GUSB):c.1145G>A (p.Arg382His) rs764018631 0.00001
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) rs121918184 0.00001
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410 0.00001
NM_000199.5(SGSH):c.975G>T (p.Trp325Cys) rs201413321 0.00001
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798 0.00001
NM_000203.5(IDUA):c.1190-2A>T rs994902207 0.00001
NM_000203.5(IDUA):c.1524+1G>A rs1553917483 0.00001
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) rs200448421 0.00001
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694 0.00001
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala) rs766030255 0.00001
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser) rs1044231895 0.00001
NM_000203.5(IDUA):c.589+1G>A rs1293215555 0.00001
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122 0.00001
NM_000263.4(NAGLU):c.154G>A (p.Val52Met) rs794726880 0.00001
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) rs527236038 0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478 0.00001
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn) rs2092909557 0.00001
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) rs886042073 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000289.6(PFKM):c.1500+1G>A rs770066278 0.00001
NM_000289.6(PFKM):c.936+1G>A rs1949974650 0.00001
NM_000292.3(PHKA2):c.557G>A (p.Arg186His) rs137852290 0.00001
NM_000293.3(PHKB):c.306-2A>G rs797044442 0.00001
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445 0.00001
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn) rs767427889 0.00001
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg) rs137854541 0.00001
NM_000308.4(CTSA):c.869+1G>C rs1987148852 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000404.4(GLB1):c.161G>A (p.Ser54Asn) rs143423935 0.00001
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe) rs1699791081 0.00001
NM_000404.4(GLB1):c.517C>G (p.Leu173Val) rs1303774639 0.00001
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) rs371546950 0.00001
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser) rs1303492021 0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg) rs398123434 0.00001
NM_000512.5(GALNS):c.184A>T (p.Met62Leu) rs1367462378 0.00001
NM_000512.5(GALNS):c.338T>C (p.Ile113Thr) rs979373729 0.00001
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly) rs1427663367 0.00001
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu) rs772413313 0.00001
NM_000512.5(GALNS):c.638C>T (p.Ala213Val) rs770239604 0.00001
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser) rs764070268 0.00001
NM_000528.4(MAN2B1):c.1420-1G>A rs752229880 0.00001
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00001
NM_000528.4(MAN2B1):c.2267+1G>A rs1022927322 0.00001
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457 0.00001
NM_000528.4(MAN2B1):c.2820+1G>A rs768734132 0.00001
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159 0.00001
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly) rs764236940 0.00001
NM_000642.3(AGL):c.2309-2A>G rs1253347170 0.00001
NM_001008216.2(GALE):c.796-1G>T rs779828095 0.00001
NM_001040716.2(PC):c.1368+1G>T rs755640269 0.00001
NM_001040716.2(PC):c.633+2T>C rs763433647 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter) rs1466111134 0.00001
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) rs1557229854 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_002103.5(GYS1):c.1170-2A>G rs1219432457 0.00001
NM_002637.4(PHKA1):c.2527-1G>T rs1556257317 0.00001
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511 0.00001
NM_003384.3(VRK1):c.889+1G>T rs1482696609 0.00001
NM_004130.4(GYG1):c.481+2T>C rs1173594490 0.00001
NM_005609.4(PYGM):c.1092+1G>A rs749560316 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035 0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253 0.00001
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp) rs376581557 0.00001
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs) rs1341763493 0.00001
NM_006859.4(LIAS):c.954+1G>A rs965952835 0.00001
NM_012434.5(SLC17A5):c.1109_1111+2del rs1767805645 0.00001
NM_012434.5(SLC17A5):c.1111+1G>A rs777862172 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567 0.00001
NM_021957.4(GYS2):c.1229+1G>A rs764539267 0.00001
NM_024989.4(PGAP1):c.2286+1G>A rs1406991265 0.00001
NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser) rs566912235 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
NC_000001.10:g.(?_100335936)_(100336445_?)del
NC_000001.10:g.(?_24186268)_(24186413_?)dup
NC_000001.11:g.(?_99921514)_(99921671_?)del
NC_000001.11:g.(?_99921524)_(99921661_?)del
NC_000003.11:g.(?_81640178)_(81643184_?)dup
NC_000003.12:g.(?_81490387)_(81705633_?)del
NC_000003.12:g.(?_81490397)_(81490473_?)del
NC_000004.11:g.(?_103635575)_(103635738_?)dup
NC_000005.9:g.(?_78135159)_(78135269_?)dup
NC_000005.9:g.(?_78181397)_(78181660_?)dup
NC_000006.11:g.(?_74310064)_(74310174_?)dup
NC_000006.12:g.(?_73610390)_(73615457_?)dup
NC_000008.10:g.(?_43028846)_(43028896_?)dup
NC_000009.11:g.(?_104184081)_(104184196_?)del
NC_000011.10:g.(?_64746639)_(64747378_?)del
NC_000011.10:g.(?_64758236)_(64758714_?)del
NC_000012.11:g.(?_65133151)_(65146547_?)dup
NC_000016.9:g.(?_47531290)_(47549532_?)dup
NC_000016.9:g.(?_47614186)_(47644851_?)dup
NC_000016.9:g.(?_47621559)_(47630462_?)dup
NC_000016.9:g.(?_47644717)_(47644851_?)dup
NC_000016.9:g.(?_87935498)_(87938530_?)dup
NC_000016.9:g.(?_88884395)_(88884552_?)del
NC_000016.9:g.(?_88893090)_(88904193_?)del
NC_000017.10:g.(?_40690337)_(40690793_?)dup
NC_000017.10:g.(?_41061310)_(41061445_?)dup
NC_000017.11:g.(?_80107537)_(80113386_?)del
NC_000019.9:g.(?_12760707)_(12763294_?)dup
NC_000019.9:g.(?_12760717)_(12761046_?)dup
NC_000021.8:g.(?_38126547)_(38139606_?)del
NC_000023.10:g.(?_119589192)_(119589445_?)dup
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.346C>T (p.Arg116Trp) rs386833423
NM_000027.4(AGA):c.698+1G>A rs1057517175
NM_000027.4(AGA):c.698+2T>C rs2111013260
NM_000027.4(AGA):c.807-1G>A
NM_000027.4(AGA):c.904G>C (p.Gly302Arg)
NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs) rs1831052831
NM_000035.4(ALDOB):c.113-1G>A rs748663340
NM_000035.4(ALDOB):c.113-1G>C rs748663340
NM_000035.4(ALDOB):c.113-2A>G
NM_000035.4(ALDOB):c.1A>G (p.Met1Val)
NM_000035.4(ALDOB):c.1A>T (p.Met1Leu)
NM_000035.4(ALDOB):c.2T>G (p.Met1Arg)
NM_000035.4(ALDOB):c.379+1G>A rs138121153
NM_000035.4(ALDOB):c.380-2A>G rs1300461861
NM_000035.4(ALDOB):c.541-277_651del
NM_000035.4(ALDOB):c.624+1G>C
NM_000035.4(ALDOB):c.799+1G>A
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe) rs756671977
NM_000046.5(ARSB):c.1140_1142+2del rs1747980506
NM_000046.5(ARSB):c.1214-1G>A
NM_000046.5(ARSB):c.1214-2A>T rs1554069808
NM_000046.5(ARSB):c.1289A>G (p.His430Arg) rs1171277553
NM_000046.5(ARSB):c.1438dup (p.Asp480fs) rs1167459660
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu) rs906245021
NM_000046.5(ARSB):c.1451G>C (p.Arg484Thr)
NM_000046.5(ARSB):c.1458C>A (p.Asp486Glu)
NM_000046.5(ARSB):c.158A>G (p.Asp53Gly) rs2112582627
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser) rs1554069655
NM_000046.5(ARSB):c.161A>C (p.Asp54Ala) rs1378501017
NM_000046.5(ARSB):c.166G>A (p.Gly56Ser)
NM_000046.5(ARSB):c.166G>C (p.Gly56Arg)
NM_000046.5(ARSB):c.206C>T (p.Thr69Met) rs1554032175
NM_000046.5(ARSB):c.244C>G (p.Leu82Val)
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
NM_000046.5(ARSB):c.283C>T (p.Arg95Trp) rs1201268402
NM_000046.5(ARSB):c.284G>T (p.Arg95Leu) rs118203942
NM_000046.5(ARSB):c.304C>A (p.Arg102Ser)
NM_000046.5(ARSB):c.323G>A (p.Gly108Asp)
NM_000046.5(ARSB):c.350G>A (p.Cys117Tyr)
NM_000046.5(ARSB):c.441C>G (p.His147Gln) rs1752333074
NM_000046.5(ARSB):c.478C>G (p.Arg160Gly)
NM_000046.5(ARSB):c.499+2T>A
NM_000046.5(ARSB):c.534T>G (p.His178Gln)
NM_000046.5(ARSB):c.690+2T>G
NM_000046.5(ARSB):c.797A>G (p.Tyr266Cys)
NM_000046.5(ARSB):c.887T>A (p.Ile296Asn) rs1554086368
NM_000046.5(ARSB):c.898+1G>A rs1751669303
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro) rs727503809
NM_000046.5(ARSB):c.962T>A (p.Leu321Gln)
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_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)
NM_000147.5(FUCA1):c.1261-1G>A
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu)
NM_000147.5(FUCA1):c.662_662+8del rs766794815
NM_000147.5(FUCA1):c.768+1G>A rs1639468949
NM_000147.5(FUCA1):c.768+1G>T
NM_000147.5(FUCA1):c.769-2A>C
NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu) rs2056095097
NM_000151.4(G6PC1):c.14T>A (p.Met5Lys)
NM_000151.4(G6PC1):c.15G>A (p.Met5Ile)
NM_000151.4(G6PC1):c.15G>C (p.Met5Ile)
NM_000151.4(G6PC1):c.15G>T (p.Met5Ile)
NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg) rs1567702819
NM_000151.4(G6PC1):c.239T>C (p.Phe80Ser)
NM_000151.4(G6PC1):c.362T>C (p.Met121Thr)
NM_000151.4(G6PC1):c.365G>T (p.Gly122Val) rs759982943
NM_000151.4(G6PC1):c.446+1G>C rs1597989983
NM_000151.4(G6PC1):c.446+2T>C rs1597989985
NM_000151.4(G6PC1):c.447-1G>C
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.563-3C>G rs1597991608
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) rs1555560128
NM_000151.4(G6PC1):c.706T>G (p.Trp236Gly)
NM_000151.4(G6PC1):c.764C>A (p.Thr255Asn)
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile) rs2056092654
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.809G>A (p.Gly270Asp)
NM_000151.4(G6PC1):c.820G>A (p.Ala274Thr) rs764084156
NM_000151.4(G6PC1):c.964T>C (p.Phe322Leu)
NM_000151.4(G6PC1):c.966C>A (p.Phe322Leu)
NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC
NM_000152.5(GAA):c.1003G>T (p.Gly335Trp) rs202095215
NM_000152.5(GAA):c.1075+2T>A rs2143853890
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp) rs368244038
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) rs1555600070
NM_000152.5(GAA):c.1123C>A (p.Arg375Ser)
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1195-2A>C rs765360653
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1220A>G (p.Tyr407Cys)
NM_000152.5(GAA):c.1223T>C (p.Met408Thr)
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.1369C>T (p.Pro457Ser)
NM_000152.5(GAA):c.1376A>T (p.Asp459Val) rs2143866303
NM_000152.5(GAA):c.1396G>T (p.Val466Phe)
NM_000152.5(GAA):c.1400T>C (p.Phe467Ser)
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) rs748893499
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser)
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu) rs2143872219
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)
NM_000152.5(GAA):c.1565C>T (p.Pro522Leu) rs2143874287
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala) rs794727016
NM_000152.5(GAA):c.1583G>T (p.Gly528Val)
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser) rs2143875175
NM_000152.5(GAA):c.1636+1G>A
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)
NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)
NM_000152.5(GAA):c.1697C>T (p.Ser566Phe)
NM_000152.5(GAA):c.1709A>G (p.Asn570Ser)
NM_000152.5(GAA):c.1714C>T (p.His572Tyr)
NM_000152.5(GAA):c.1754+1_1754+7del rs2039250790
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1798C>G (p.Arg600Gly) rs764670084
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys)
NM_000152.5(GAA):c.1846G>T (p.Asp616Tyr)
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu)
NM_000152.5(GAA):c.1855A>G (p.Ser619Gly)
NM_000152.5(GAA):c.1888+1G>A rs776325453
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp) rs2143891559
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp) rs28937909
NM_000152.5(GAA):c.1928G>C (p.Gly643Ala)
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr)
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) rs1265892085
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys)
NM_000152.5(GAA):c.1943G>T (p.Gly648Val) rs1448515860
NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly)
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro) rs2143896492
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala) rs2143896492
NM_000152.5(GAA):c.2131A>T (p.Thr711Ser)
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2174G>T (p.Arg725Leu)
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg) rs1567838823
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp) rs1292367136
NM_000152.5(GAA):c.2296T>C (p.Tyr766His)
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.2332-2A>G rs112098197
NM_000152.5(GAA):c.2481+1G>A
NM_000152.5(GAA):c.2482-1G>T
NM_000152.5(GAA):c.2563G>C (p.Gly855Arg)
NM_000152.5(GAA):c.2647-2A>G
NM_000152.5(GAA):c.265C>A (p.Arg89Ser)
NM_000152.5(GAA):c.266G>T (p.Arg89Leu)
NM_000152.5(GAA):c.2782T>C (p.Tyr928His) rs2143934702
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr) rs2143827215
NM_000152.5(GAA):c.316C>G (p.Arg106Gly) rs915675670
NM_000152.5(GAA):c.546+2T>C
NM_000152.5(GAA):c.546+2_546+5del rs1181354869
NM_000152.5(GAA):c.569G>T (p.Arg190Leu) rs528367092
NM_000152.5(GAA):c.656G>A (p.Gly219Glu)
NM_000152.5(GAA):c.671G>T (p.Arg224Leu)
NM_000152.5(GAA):c.693-1G>C rs2143845687
NM_000152.5(GAA):c.693-2A>C
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.732G>C (p.Gln244His) rs1178922366
NM_000152.5(GAA):c.797C>T (p.Pro266Leu) rs1567828977
NM_000152.5(GAA):c.858+1G>A
NM_000152.5(GAA):c.859-1G>C
NM_000152.5(GAA):c.859-2A>G rs2143848897
NM_000152.5(GAA):c.874T>C (p.Tyr292His)
NM_000152.5(GAA):c.922C>G (p.His308Asp)
NM_000152.5(GAA):c.925G>T (p.Gly309Trp)
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.990G>C (p.Trp330Cys)
NM_000154.2(GALK1):c.355+1G>A
NM_000154.2(GALK1):c.475+1G>A
NM_000154.2(GALK1):c.476-2A>G
NM_000154.2(GALK1):c.612-1G>T
NM_000154.2(GALK1):c.944+1G>T rs113464656
NM_000154.2(GALK1):c.945-36_992del rs2143586633
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000155.4(GALT):c.1049C>G (p.Thr350Ser)
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly) rs1821203474
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys) rs367543273
NM_000155.4(GALT):c.133T>C (p.Ser45Pro) rs2132341560
NM_000155.4(GALT):c.134C>T (p.Ser45Leu) rs111033652
NM_000155.4(GALT):c.241G>A (p.Ala81Thr) rs111033665
NM_000155.4(GALT):c.289A>G (p.Asn97Asp) rs1564100957
NM_000155.4(GALT):c.328+2T>G
NM_000155.4(GALT):c.378-2A>G rs1554709280
NM_000155.4(GALT):c.378-2A>T rs1554709280
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.403T>G (p.Ser135Ala) rs2132343082
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.413C>G (p.Thr138Arg) rs111033686
NM_000155.4(GALT):c.424A>C (p.Met142Leu)
NM_000155.4(GALT):c.499T>C (p.Trp167Arg) rs111033708
NM_000155.4(GALT):c.501G>C (p.Trp167Cys)
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.550C>G (p.His184Asp) rs111033716
NM_000155.4(GALT):c.556C>A (p.His186Asn) rs111033725
NM_000155.4(GALT):c.557A>G (p.His186Arg)
NM_000155.4(GALT):c.558C>A (p.His186Gln) rs886042097
NM_000155.4(GALT):c.586C>G (p.Pro196Ala)
NM_000155.4(GALT):c.587C>T (p.Pro196Leu) rs886042066
NM_000155.4(GALT):c.604G>A (p.Glu202Lys) rs2132344159
NM_000155.4(GALT):c.608A>G (p.Glu203Gly) rs2132344172
NM_000155.4(GALT):c.611G>C (p.Arg204Pro) rs111033740
NM_000155.4(GALT):c.625T>G (p.Tyr209Asp) rs2132344222
NM_000155.4(GALT):c.650T>C (p.Leu217Pro) rs111033741
NM_000155.4(GALT):c.668G>A (p.Arg223His)
NM_000155.4(GALT):c.688-1G>C rs1821175162
NM_000155.4(GALT):c.691C>G (p.Arg231Gly) rs111033749
NM_000155.4(GALT):c.815G>T (p.Arg272Leu)
NM_000155.4(GALT):c.82+2del rs794726876
NM_000155.4(GALT):c.821-1del rs2132345349
NM_000155.4(GALT):c.835A>G (p.Met279Val)
NM_000155.4(GALT):c.836T>G (p.Met279Arg) rs111033779
NM_000155.4(GALT):c.854A>C (p.Lys285Thr)
NM_000155.4(GALT):c.86A>G (p.His29Arg) rs2132341442
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr) rs111033781
NM_000155.4(GALT):c.883C>T (p.Pro295Ser)
NM_000155.4(GALT):c.892A>G (p.Met298Val) rs1821187430
NM_000155.4(GALT):c.896G>A (p.Gly299Asp)
NM_000155.4(GALT):c.900G>T (p.Trp300Cys)
NM_000155.4(GALT):c.905-2A>G rs398123187
NM_000155.4(GALT):c.910C>G (p.Pro304Ala)
NM_000155.4(GALT):c.910C>T (p.Pro304Ser) rs2132346162
NM_000155.4(GALT):c.91C>A (p.His31Asn) rs111033643
NM_000155.4(GALT):c.971C>T (p.Pro324Leu)
NM_000155.4(GALT):c.980T>C (p.Leu327Pro) rs111033832
NM_000155.4(GALT):c.98G>A (p.Arg33His) rs111033829
NM_000158.4(GBE1):c.1108+2T>C
NM_000158.4(GBE1):c.1109-1G>A rs763258786
NM_000158.4(GBE1):c.1109-2A>G
NM_000158.4(GBE1):c.1236+1G>A
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1543C>G (p.Arg515Gly)
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly) rs137852888
NM_000158.4(GBE1):c.1618+1G>A rs1703670302
NM_000158.4(GBE1):c.1619-1G>A rs2106872434
NM_000158.4(GBE1):c.1622A>G (p.Asn541Ser)
NM_000158.4(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.4(GBE1):c.1799_1803+8del
NM_000158.4(GBE1):c.1803+1G>A rs1273791312
NM_000158.4(GBE1):c.1804-2A>T rs1224090803
NM_000158.4(GBE1):c.1934+2T>A rs752625236
NM_000158.4(GBE1):c.1934+2T>C
NM_000158.4(GBE1):c.1935-1C>T rs1475447884
NM_000158.4(GBE1):c.1935-2A>G
NM_000158.4(GBE1):c.1935-2del rs2106810015
NM_000158.4(GBE1):c.2052+1G>A rs2106809795
NM_000158.4(GBE1):c.2052+1G>T rs2106809795
NM_000158.4(GBE1):c.314-1G>C
NM_000158.4(GBE1):c.314-2A>G rs2107114825
NM_000158.4(GBE1):c.430-1G>C
NM_000158.4(GBE1):c.556-1G>A
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000158.4(GBE1):c.692-1G>A
NM_000158.4(GBE1):c.783-1G>A rs397515342
NM_000158.4(GBE1):c.783C>A (p.Ser261Arg)
NM_000158.4(GBE1):c.783C>G (p.Ser261Arg) rs1559673607
NM_000158.4(GBE1):c.790G>A (p.Gly264Arg)
NM_000158.4(GBE1):c.791G>C (p.Gly264Ala)
NM_000158.4(GBE1):c.955C>G (p.His319Asp)
NM_000158.4(GBE1):c.956A>G (p.His319Arg) rs1490328834
NM_000158.4(GBE1):c.985T>C (p.Tyr329His)
NM_000158.4(GBE1):c.992+2T>G rs772349876
NM_000158.4(GBE1):c.993-2A>G
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000181.4(GUSB):c.1476_1476+13del
NM_000181.4(GUSB):c.1477-1G>C
NM_000181.4(GUSB):c.1477-2A>G
NM_000181.4(GUSB):c.1654-1G>A
NM_000181.4(GUSB):c.396+1G>A
NM_000181.4(GUSB):c.560_581+13del
NM_000181.4(GUSB):c.581+1G>A
NM_000181.4(GUSB):c.647G>A (p.Arg216Gln) rs1791836120
NM_000181.4(GUSB):c.724+1G>T rs2116026958
NM_000199.5(SGSH):c.1129C>A (p.Arg377Ser)
NM_000199.5(SGSH):c.1186T>C (p.Phe396Leu)
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.1340A>G (p.Glu447Gly)
NM_000199.5(SGSH):c.1431C>A (p.Asp477Glu)
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.188C>A (p.Ala63Asp)
NM_000199.5(SGSH):c.197C>T (p.Ser66Leu)
NM_000199.5(SGSH):c.239G>T (p.Gly80Val)
NM_000199.5(SGSH):c.250-2A>G
NM_000199.5(SGSH):c.254A>G (p.Gln85Arg)
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000199.5(SGSH):c.356-2A>G rs1057517927
NM_000199.5(SGSH):c.36_88+420del
NM_000199.5(SGSH):c.539C>T (p.Pro180Leu)
NM_000199.5(SGSH):c.663+1G>A
NM_000199.5(SGSH):c.664-1G>T rs1555621425
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.703G>C (p.Asp235His)
NM_000199.5(SGSH):c.703G>T (p.Asp235Tyr)
NM_000199.5(SGSH):c.733C>A (p.Arg245Ser)
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) rs1455698449
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.88G>C (p.Ala30Pro) rs758793075
NM_000199.5(SGSH):c.88_88+67del rs2144830115
NM_000199.5(SGSH):c.89-2A>G rs1369704445
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg) rs1385473515
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly) rs2089378583
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp) rs1557338581
NM_000202.8(IDS):c.1007-133A>G rs2124007227
NM_000202.8(IDS):c.1007G>A (p.Gly336Glu)
NM_000202.8(IDS):c.1021G>A (p.Glu341Lys) rs2124006380
NM_000202.8(IDS):c.1024C>T (p.His342Tyr) rs2089343220
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg) rs2089342939
NM_000202.8(IDS):c.1418C>T (p.Pro473Leu) rs2089305403
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter) rs886044837
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.328A>G (p.Arg110Gly) rs2124063287
NM_000202.8(IDS):c.454A>C (p.Ser152Arg) rs2124055504
NM_000202.8(IDS):c.670G>A (p.Gly224Arg) rs2089450754
NM_000202.8(IDS):c.671G>C (p.Gly224Ala)
NM_000202.8(IDS):c.801G>T (p.Trp267Cys) rs2124041510
NM_000202.8(IDS):c.823G>A (p.Asp275Asn)
NM_000202.8(IDS):c.823G>T (p.Asp275Tyr)
NM_000202.8(IDS):c.880-2_880-1delinsCC
NM_000202.8(IDS):c.913T>C (p.Ser305Pro) rs2124020632
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg) rs2153022349
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr) rs780106243
NM_000203.5(IDUA):c.1087C>A (p.Arg363Ser)
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys)
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg)
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser) rs1553917304
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met) rs794727896
NM_000203.5(IDUA):c.141GAG[1] (p.Arg48del) rs1713799705
NM_000203.5(IDUA):c.1466G>C (p.Arg489Pro) rs1416328981
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) rs121965026
NM_000203.5(IDUA):c.1513C>G (p.Arg505Gly) rs1715218377
NM_000203.5(IDUA):c.1525-11_1536del rs1715233169
NM_000203.5(IDUA):c.1525-1G>A
NM_000203.5(IDUA):c.1525-2A>C rs2153022881
NM_000203.5(IDUA):c.159-1G>A rs1553914935
NM_000203.5(IDUA):c.159-2A>C rs2153015588
NM_000203.5(IDUA):c.159-2A>G rs2153015588
NM_000203.5(IDUA):c.1597C>A (p.Pro533Thr) rs374779600
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)
NM_000203.5(IDUA):c.1598C>A (p.Pro533Gln)
NM_000203.5(IDUA):c.1651-2A>G rs2153022990
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)
NM_000203.5(IDUA):c.1709A>T (p.Asp570Val)
NM_000203.5(IDUA):c.1723_1727+4del
NM_000203.5(IDUA):c.1829-1G>C
NM_000203.5(IDUA):c.1829-2A>G rs1553917733
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro) rs2153023287
NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser)
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
NM_000203.5(IDUA):c.1897del (p.Ser633fs) rs1553917756
NM_000203.5(IDUA):c.224C>T (p.Ala75Val) rs1315260083
NM_000203.5(IDUA):c.299_299+1delinsAT rs2153015709
NM_000203.5(IDUA):c.300-7_306del
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.536C>A (p.Thr179Lys)
NM_000203.5(IDUA):c.540G>C (p.Trp180Cys)
NM_000203.5(IDUA):c.543_544inv (p.Glu182Lys)
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg) rs1238128027
NM_000203.5(IDUA):c.607G>T (p.Asp203Tyr) rs2153021976
NM_000203.5(IDUA):c.608A>G (p.Asp203Gly) rs2153021978
NM_000203.5(IDUA):c.613T>G (p.Cys205Gly)
NM_000203.5(IDUA):c.623G>C (p.Gly208Ala)
NM_000203.5(IDUA):c.655G>A (p.Gly219Arg)
NM_000203.5(IDUA):c.713T>C (p.Leu238Pro) rs148789453
NM_000203.5(IDUA):c.718C>T (p.His240Tyr)
NM_000203.5(IDUA):c.905C>G (p.Pro302Arg) rs767140903
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu) rs781534097
NM_000262.3(NAGA):c.16+1G>A
NM_000262.3(NAGA):c.322_324+9del
NM_000262.3(NAGA):c.324+1G>C
NM_000262.3(NAGA):c.598-1G>A
NM_000262.3(NAGA):c.759+1_759+8del rs768761898
NM_000262.3(NAGA):c.949_957+8del
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser) rs768918822
NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe) rs2143075651
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu) rs753454744
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr) rs1599260473
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys)
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe)
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln)
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala) rs771151036
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser)
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro) rs2092928624
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro) rs144238669
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser) rs1347224658
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser)
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu)
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val) rs1567894363
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs) rs2143116788
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly) rs1599253805
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser)
NM_000263.4(NAGLU):c.236G>A (p.Gly79Asp)
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp) rs2092906798
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu) rs1379877908
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp) rs746876753
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp)
NM_000263.4(NAGLU):c.531+1G>A rs1245939928
NM_000263.4(NAGLU):c.532-1G>A rs2143086378
NM_000263.4(NAGLU):c.532-1G>C rs2143086378
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu)
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly) rs104894601
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu) rs886042073
NM_000263.4(NAGLU):c.764+2T>C
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe)
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu) rs1209988199
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val) rs1599258487
NM_000263.4(NAGLU):c.925T>C (p.Tyr309His) rs2143099180
NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe) rs1305299665
NM_000263.4(NAGLU):c.934G>C (p.Asp312His)
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala)
NM_000263.4(NAGLU):c.940T>G (p.Phe314Val) rs104894600
NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser) rs1181487342
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)
NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)
NM_000284.4(PDHA1):c.899+2T>C
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)
NM_000289.6(PFKM):c.1062+1G>A
NM_000289.6(PFKM):c.1062+2T>C rs2135957798
NM_000289.6(PFKM):c.1127+1G>T rs2135976459
NM_000289.6(PFKM):c.1128-2A>G
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
NM_000289.6(PFKM):c.1192-2A>G
NM_000289.6(PFKM):c.1341+1G>C
NM_000289.6(PFKM):c.1342-1G>C
NM_000289.6(PFKM):c.1412+1G>T
NM_000289.6(PFKM):c.1412+2T>C
NM_000289.6(PFKM):c.1501-2del rs1410122696
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000289.6(PFKM):c.1653+2T>G
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)
NM_000289.6(PFKM):c.1992+1G>T
NM_000289.6(PFKM):c.2047_2092+14del
NM_000289.6(PFKM):c.2092+2T>C
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.594-1G>A
NM_000289.6(PFKM):c.638+1G>T
NM_000289.6(PFKM):c.936+2T>G
NM_000292.3(PHKA2):c.1042-1G>A rs2048391185
NM_000292.3(PHKA2):c.1137+2T>C rs2147946477
NM_000292.3(PHKA2):c.1714+1G>A rs1556002344
NM_000292.3(PHKA2):c.2518-1G>A rs2047834385
NM_000292.3(PHKA2):c.2597+1G>A rs1210626722
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000292.3(PHKA2):c.285+2_285+5del rs2048714302
NM_000292.3(PHKA2):c.3112-2A>G
NM_000292.3(PHKA2):c.3283-1G>C rs2047516641
NM_000292.3(PHKA2):c.3336+1dup rs2047514376
NM_000292.3(PHKA2):c.3336+2T>A rs1555988479
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) rs137852293
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu) rs1601685358
NM_000292.3(PHKA2):c.3644_3646dup (p.Leu1215_Thr1216insIle) rs2047467477
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000292.3(PHKA2):c.559G>A (p.Gly187Arg) rs2147972085
NM_000292.3(PHKA2):c.919-2A>G rs2147954334
NM_000293.3(PHKB):c.1126+1G>T
NM_000293.3(PHKB):c.1126+2T>C
NM_000293.3(PHKB):c.1204+1G>T
NM_000293.3(PHKB):c.1364-1G>A
NM_000293.3(PHKB):c.1609-2A>C
NM_000293.3(PHKB):c.1693-2A>G
NM_000293.3(PHKB):c.1797+1G>A
NM_000293.3(PHKB):c.1797+1G>C rs777714363
NM_000293.3(PHKB):c.2278+1G>A
NM_000293.3(PHKB):c.2329_2336+5del
NM_000293.3(PHKB):c.2427+1052_2427+1083del
NM_000293.3(PHKB):c.2427+1G>A
NM_000293.3(PHKB):c.2895+1G>A
NM_000293.3(PHKB):c.3003+2T>C
NM_000293.3(PHKB):c.3004-2A>G
NM_000293.3(PHKB):c.305+2T>C
NM_000293.3(PHKB):c.513+2T>A
NM_000293.3(PHKB):c.595-1G>A rs2151672494
NM_000293.3(PHKB):c.710+1G>T
NM_000293.3(PHKB):c.77-1G>A
NM_000293.3(PHKB):c.775-1G>A
NM_000294.3(PHKG2):c.392+2T>G
NM_000294.3(PHKG2):c.393-2A>G
NM_000308.4(CTSA):c.1088+1G>A
NM_000308.4(CTSA):c.1255-1G>A
NM_000308.4(CTSA):c.306+2T>A
NM_000308.4(CTSA):c.358-2A>G
NM_000308.4(CTSA):c.445-18_447del rs1987030082
NM_000308.4(CTSA):c.445-1G>C
NM_000308.4(CTSA):c.601-2A>C
NM_000308.4(CTSA):c.948+13_954delinsAGA
NM_000343.4(SLC5A1):c.1021+1G>A rs2149492476
NM_000343.4(SLC5A1):c.1496G>A (p.Arg499His)
NM_000343.4(SLC5A1):c.372+1_372+2insCTTATAT rs764766115
NM_000343.4(SLC5A1):c.665-2A>G
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg) rs137852344
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
NM_000404.4(GLB1):c.1009C>G (p.Leu337Val) rs376034559
NM_000404.4(GLB1):c.1060A>G (p.Ile354Val)
NM_000404.4(GLB1):c.1188_1189delinsCT (p.Pro397Ser)
NM_000404.4(GLB1):c.1234-1G>T
NM_000404.4(GLB1):c.1256G>C (p.Arg419Pro)
NM_000404.4(GLB1):c.1258A>G (p.Thr420Ala) rs200181401
NM_000404.4(GLB1):c.1347+1G>T
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del) rs1215113920
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn) rs1172435886
NM_000404.4(GLB1):c.148T>C (p.Tyr50His)
NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)
NM_000404.4(GLB1):c.151A>C (p.Ile51Leu)
NM_000404.4(GLB1):c.160A>G (p.Ser54Gly)
NM_000404.4(GLB1):c.1645C>T (p.Pro549Ser) rs2125463133
NM_000404.4(GLB1):c.1660G>A (p.Gly554Arg)
NM_000404.4(GLB1):c.1667T>C (p.Phe556Ser)
NM_000404.4(GLB1):c.1685dup (p.Asp564fs) rs1697138071
NM_000404.4(GLB1):c.1739A>G (p.Gln580Arg) rs2125442981
NM_000404.4(GLB1):c.1742T>G (p.Val581Gly)
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.1768C>G (p.Arg590Gly)
NM_000404.4(GLB1):c.176G>T (p.Arg59Leu) rs72555392
NM_000404.4(GLB1):c.1771T>C (p.Tyr591His)
NM_000404.4(GLB1):c.1772A>C (p.Tyr591Ser) rs72555371
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys) rs759483184
NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly) rs72555370
NM_000404.4(GLB1):c.203G>T (p.Arg68Leu) rs572237881
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) rs397515616
NM_000404.4(GLB1):c.396+2T>C rs1057517738
NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del) rs751033858
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe) rs1553612143
NM_000404.4(GLB1):c.443G>T (p.Arg148Leu)
NM_000404.4(GLB1):c.457+2T>C rs398123354
NM_000404.4(GLB1):c.517C>T (p.Leu173Phe)
NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)
NM_000404.4(GLB1):c.521A>C (p.Tyr174Ser) rs2125543580
NM_000404.4(GLB1):c.552+2T>C rs1553611778
NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)
NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)
NM_000404.4(GLB1):c.76-1G>T
NM_000404.4(GLB1):c.765G>C (p.Gln255His) rs1553610553
NM_000404.4(GLB1):c.765G>T (p.Gln255His)
NM_000404.4(GLB1):c.827A>C (p.His276Pro) rs1559401406
NM_000404.4(GLB1):c.842A>G (p.His281Arg)
NM_000404.4(GLB1):c.915-1G>T rs749020375
NM_000404.4(GLB1):c.915-2A>G
NM_000404.4(GLB1):c.932G>A (p.Gly311Glu)
NM_000404.4(GLB1):c.937A>G (p.Asn313Asp)
NM_000404.4(GLB1):c.955+2T>G rs746883447
NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596
NM_000507.4(FBP1):c.427-2A>G
NM_000507.4(FBP1):c.639C>A (p.Asn213Lys)
NM_000512.5(GALNS):c.1018G>A (p.Gly340Ser)
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del) rs1567519221
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn) rs1967935603
NM_000512.5(GALNS):c.1196A>C (p.Lys399Thr) rs1267791852
NM_000512.5(GALNS):c.121-7C>G rs1004936255
NM_000512.5(GALNS):c.1242+1G>C
NM_000512.5(GALNS):c.1242+1G>T rs2142993764
NM_000512.5(GALNS):c.1364+2_1364+15del
NM_000512.5(GALNS):c.1365-2A>G
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser) rs1204485789
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)
NM_000512.5(GALNS):c.181C>G (p.Arg61Gly) rs145798311
NM_000512.5(GALNS):c.185T>G (p.Met62Arg)
NM_000512.5(GALNS):c.230C>T (p.Pro77Leu)
NM_000512.5(GALNS):c.245-2A>G rs1352162269
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys) rs2143005086
NM_000512.5(GALNS):c.289T>G (p.Phe97Val) rs2143005083
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly) rs2143005072
NM_000512.5(GALNS):c.337A>G (p.Ile113Val)
NM_000512.5(GALNS):c.373C>T (p.Pro125Ser)
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln) rs746949976
NM_000512.5(GALNS):c.422+1G>T rs1966940003
NM_000512.5(GALNS):c.422+2T>G rs2143004585
NM_000512.5(GALNS):c.425A>C (p.His142Pro) rs1288895691
NM_000512.5(GALNS):c.425A>T (p.His142Leu) rs1288895691
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu) rs2143002437
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr) rs2143002331
NM_000512.5(GALNS):c.566+1G>A
NM_000512.5(GALNS):c.601G>A (p.Gly201Arg)
NM_000512.5(GALNS):c.641T>G (p.Leu214Arg)
NM_000512.5(GALNS):c.648C>G (p.Phe216Leu) rs2143001453
NM_000512.5(GALNS):c.679T>G (p.Phe227Val) rs2143001417
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr) rs368603508
NM_000512.5(GALNS):c.700G>T (p.Ala234Ser)
NM_000512.5(GALNS):c.716T>G (p.Val239Gly)
NM_000512.5(GALNS):c.851T>G (p.Phe284Cys)
NM_000512.5(GALNS):c.902G>A (p.Gly301Asp) rs776715466
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro) rs2142999202
NM_000528.4(MAN2B1):c.1027-1G>C
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.1109+1G>C rs2024027294
NM_000528.4(MAN2B1):c.1110-1G>A
NM_000528.4(MAN2B1):c.1110-1G>T rs1599352199
NM_000528.4(MAN2B1):c.1310-1G>A rs1555708156
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe) rs864621984
NM_000528.4(MAN2B1):c.1419+1G>T
NM_000528.4(MAN2B1):c.1419+2_1419+15del rs2145256406
NM_000528.4(MAN2B1):c.1420-104_1449del
NM_000528.4(MAN2B1):c.1420-27_1420-3del
NM_000528.4(MAN2B1):c.1420-2A>G rs2145254657
NM_000528.4(MAN2B1):c.1528-1G>T rs561991886
NM_000528.4(MAN2B1):c.1528-2A>G
NM_000528.4(MAN2B1):c.159+1G>A rs1555710254
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.2166-2A>G rs2145232776
NM_000528.4(MAN2B1):c.2248C>G (p.Arg750Gly) rs80338680
NM_000528.4(MAN2B1):c.2268-2A>T rs2023783146
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.4(MAN2B1):c.2437-300_2719del
NM_000528.4(MAN2B1):c.262+2T>C
NM_000528.4(MAN2B1):c.263-1G>A
NM_000528.4(MAN2B1):c.263-2A>C
NM_000528.4(MAN2B1):c.2665-2A>G
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.2821-2A>G
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs) rs2023710111
NM_000528.4(MAN2B1):c.437-1G>A
NM_000528.4(MAN2B1):c.437-2A>G
NM_000528.4(MAN2B1):c.437-2del
NM_000528.4(MAN2B1):c.631-2A>C
NM_000528.4(MAN2B1):c.686G>T (p.Arg229Leu) rs574202419
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.909+1G>C
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.1283+2T>C
NM_000642.3(AGL):c.1284-2A>G rs1651536973
NM_000642.3(AGL):c.1611+2T>G
NM_000642.3(AGL):c.2001+1G>T
NM_000642.3(AGL):c.2002-1G>C rs2100759240
NM_000642.3(AGL):c.2158-1G>T
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.2308+2T>A
NM_000642.3(AGL):c.2434-1G>T rs2100768726
NM_000642.3(AGL):c.2810_2812+21del
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.2949+2T>A rs750492389
NM_000642.3(AGL):c.2950-1G>C rs1057516793
NM_000642.3(AGL):c.2950-2A>C rs770438130
NM_000642.3(AGL):c.3054_3083+34del
NM_000642.3(AGL):c.3083+1G>A rs2100790188
NM_000642.3(AGL):c.3084-1G>A
NM_000642.3(AGL):c.3260-2A>T rs775904482
NM_000642.3(AGL):c.3588_3588+14del
NM_000642.3(AGL):c.3588_3588+2del
NM_000642.3(AGL):c.3700+1G>A rs2100825216
NM_000642.3(AGL):c.3700+2T>C
NM_000642.3(AGL):c.3949+1G>C
NM_000642.3(AGL):c.401_460+75delinsTATTACAT
NM_000642.3(AGL):c.4162-1G>A rs1490339052
NM_000642.3(AGL):c.4162-2A>T
NM_000642.3(AGL):c.4260-2A>C
NM_000642.3(AGL):c.4347+1G>T rs1553193463
NM_000642.3(AGL):c.4348-2A>T rs1353062665
NM_000642.3(AGL):c.643G>A (p.Asp215Asn)
NM_000642.3(AGL):c.664+2T>C rs1650347038
NM_000642.3(AGL):c.82+1G>C
NM_000642.3(AGL):c.82+1G>T
NM_000642.3(AGL):c.82+2T>G
NM_000642.3(AGL):c.842_846+29del
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe) rs864622292
NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys) rs2074387117
NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln) rs104894581
NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys) rs199473381
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr) rs104894583
NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro) rs199473384
NM_000891.3(KCNJ2):c.779G>A (p.Arg260His) rs199473385
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala) rs199473387
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del) rs2074390325
NM_000925.4(PDHB):c.303+1G>C
NM_000925.4(PDHB):c.304-1G>C
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln) rs868788199
NM_000925.4(PDHB):c.41_43-12del
NM_000925.4(PDHB):c.96+2T>C rs2107943571
NM_001008216.2(GALE):c.1004G>A (p.Arg335His)
NM_001008216.2(GALE):c.122-11_122-1del
NM_001008216.2(GALE):c.351+1G>T rs1388106856
NM_001008216.2(GALE):c.351+2T>C
NM_001008216.2(GALE):c.528+1G>A
NM_001008216.2(GALE):c.643-2A>C
NM_001008216.2(GALE):c.709+2_709+17del
NM_001008216.2(GALE):c.795+1G>A
NM_001008216.2(GALE):c.873+2T>C
NM_001040716.2(PC):c.136+1G>T
NM_001040716.2(PC):c.1369-1G>C rs2135822173
NM_001040716.2(PC):c.1514-2A>G rs1945585636
NM_001040716.2(PC):c.1825+1G>A rs1565214970
NM_001040716.2(PC):c.1826-1G>C
NM_001040716.2(PC):c.2473+1G>C rs1304770743
NM_001040716.2(PC):c.2473+2T>C
NM_001040716.2(PC):c.2898+2T>C rs2135791416
NM_001040716.2(PC):c.2898+2_2898+5del
NM_001040716.2(PC):c.3147+2T>C rs2135788673
NM_001040716.2(PC):c.322-2A>G rs2135940951
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs) rs113994148
NM_001040716.2(PC):c.903+2T>A rs1946669738
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg) rs193302884
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg) rs193302885
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu) rs2134640168
NM_001164277.2(SLC37A4):c.382-1G>T
NM_001164277.2(SLC37A4):c.382-2A>G
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.785+2T>G rs1592111559
NM_001164277.2(SLC37A4):c.786-1G>A rs1943578039
NM_001164277.2(SLC37A4):c.786-2A>C
NM_001164277.2(SLC37A4):c.786-2A>G rs2134633880
NM_001164277.2(SLC37A4):c.871+1G>A
NM_001164277.2(SLC37A4):c.872-1G>A
NM_001164277.2(SLC37A4):c.872-8_881del
NM_001164277.2(SLC37A4):c.985+1G>A rs1943553565
NM_001164277.2(SLC37A4):c.986-1G>A
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_001360016.2(G6PD):c.1177C>T (p.Arg393Cys) rs2148328873
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys) rs2070346788
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His) rs72554665
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile) rs1557230573
NM_001360016.2(G6PD):c.464A>C (p.His155Pro)
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr) rs2070702973
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)
NM_001365304.2(LOC112694756):c.*1133+2T>C
NM_001365304.2(LOC112694756):c.*1134-2A>G
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_001931.5(DLAT):c.381+1G>T
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_002076.4(GNS):c.1098+1G>A
NM_002076.4(GNS):c.1200+1G>T
NM_002076.4(GNS):c.1200+2T>A rs2136240508
NM_002076.4(GNS):c.236_252+8del rs2136253236
NM_002076.4(GNS):c.252+1G>T rs368414819
NM_002076.4(GNS):c.625-1G>A
NM_002076.4(GNS):c.625-2A>G rs2136247666
NM_002076.4(GNS):c.792+1G>A
NM_002076.4(GNS):c.995-2A>C
NM_002103.5(GYS1):c.1063-2A>G
NM_002103.5(GYS1):c.1229+1G>A rs111911126
NM_002103.5(GYS1):c.1645+1G>A
NM_002103.5(GYS1):c.301-2A>C rs2122525708
NM_002103.5(GYS1):c.678+2T>G rs2122520177
NM_002294.3(LAMP2):c.1082del (p.Lys361fs) rs1436664364
NM_002294.3(LAMP2):c.183_183+4del
NM_002294.3(LAMP2):c.65-1G>C rs730880496
NM_002294.3(LAMP2):c.864G>A (p.Val288=) rs2147281364
NM_002637.4(PHKA1):c.238-2A>T
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro) rs2050437440
NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr) rs767847163
NM_003384.2(VRK1):c.318_889+1945del
NM_003384.3(VRK1):c.1069-2A>G
NM_003384.3(VRK1):c.1094del (p.Ser365fs) rs2139845854
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs) rs2139845924
NM_003384.3(VRK1):c.160+1G>T rs2139749072
NM_003384.3(VRK1):c.161-2A>G
NM_003384.3(VRK1):c.216+1G>A
NM_003384.3(VRK1):c.287-2A>C
NM_003384.3(VRK1):c.374+1G>T
NM_003384.3(VRK1):c.402_890-895del
NM_003384.3(VRK1):c.483+1G>A
NM_003384.3(VRK1):c.576+1G>A
NM_003384.3(VRK1):c.710-1G>A
NM_003384.3(VRK1):c.830+1G>C
NM_003384.3(VRK1):c.889+1G>A rs1482696609
NM_004130.4(GYG1):c.3G>C (p.Met1Ile) rs1365446658
NM_004130.4(GYG1):c.482-1G>C
NM_004130.4(GYG1):c.7+2T>C
NM_005327.7(HADH):c.100G>C (p.Gly34Arg) rs779135938
NM_005327.7(HADH):c.261+2T>A
NM_005327.7(HADH):c.262-2A>G
NM_005327.7(HADH):c.636+2T>C
NM_005327.7(HADH):c.709+2T>C
NM_005566.4(LDHA):c.126+2T>C
NM_005566.4(LDHA):c.244G>A (p.Asp82Asn)
NM_005609.4(PYGM):c.1092+1G>C rs749560316
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1240-2A>G rs1212333772
NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg)
NM_005609.4(PYGM):c.1403+1dup
NM_005609.4(PYGM):c.1469G>C (p.Arg490Pro)
NM_005609.4(PYGM):c.1519-1G>A rs2135831491
NM_005609.4(PYGM):c.1620+1G>T
NM_005609.4(PYGM):c.1769-1G>A rs2058357329
NM_005609.4(PYGM):c.1827+1G>C rs1057517442
NM_005609.4(PYGM):c.1828-2A>G rs2135829883
NM_005609.4(PYGM):c.1969+1G>A
NM_005609.4(PYGM):c.1970-2A>C
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.2057G>A (p.Gly686Glu)
NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp)
NM_005609.4(PYGM):c.2177+1G>A rs751875471
NM_005609.4(PYGM):c.2177+1G>T
NM_005609.4(PYGM):c.2380-1G>A rs1555133248
NM_005609.4(PYGM):c.2380-2A>G
NM_005609.4(PYGM):c.244-1G>A rs2135840980
NM_005609.4(PYGM):c.2T>C (p.Met1Thr) rs2058423391
NM_005609.4(PYGM):c.415C>G (p.Arg139Gly)
NM_005609.4(PYGM):c.424+1G>A
NM_005609.4(PYGM):c.424+1G>T
NM_005609.4(PYGM):c.425-2A>G rs752851284
NM_005609.4(PYGM):c.470G>T (p.Gly157Val)
NM_005609.4(PYGM):c.528+1G>A rs1262967083
NM_005609.4(PYGM):c.528+1G>T
NM_005609.4(PYGM):c.528+2T>G rs1057516468
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
NM_005609.4(PYGM):c.660+1G>A rs1555136208
NM_005609.4(PYGM):c.773-1G>C rs2135836264
NM_005609.4(PYGM):c.855+1G>A rs2135836123
NM_005609.4(PYGM):c.856-2A>C rs1565536363
NM_005908.4(MANBA):c.1112+1G>T
NM_005908.4(MANBA):c.1231-1G>A
NM_005908.4(MANBA):c.1704+1G>T
NM_005908.4(MANBA):c.1705-2A>G
NM_005908.4(MANBA):c.178-2A>G
NM_005908.4(MANBA):c.2015-1G>A
NM_005908.4(MANBA):c.272+2T>C
NM_005908.4(MANBA):c.273-1G>A
NM_005908.4(MANBA):c.378+2T>C
NM_005908.4(MANBA):c.673+1G>A
NM_005908.4(MANBA):c.674-1G>C
NM_005908.4(MANBA):c.674-2A>G
NM_005908.4(MANBA):c.961-2A>C rs1411236177
NM_006859.4(LIAS):c.218+1G>A
NM_006859.4(LIAS):c.884-1G>A rs201155530
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_012434.5(SLC17A5):c.1111+1G>T rs777862172
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu) rs386833989
NM_012434.5(SLC17A5):c.169C>T (p.Arg57Cys) rs754150739
NM_012434.5(SLC17A5):c.1A>G (p.Met1Val) rs1304456183
NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg)
NM_012434.5(SLC17A5):c.613+1G>A rs1769124033
NM_012434.5(SLC17A5):c.700+2T>C rs1440688652
NM_012434.5(SLC17A5):c.94+1G>A
NM_012434.5(SLC17A5):c.94+2T>A rs1769984400
NM_012434.5(SLC17A5):c.978+1G>A rs2150099218
NM_012434.5(SLC17A5):c.979-2A>G rs1554162230
NM_016042.4(EXOSC3):c.325-1G>T
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) rs672601332
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr) rs730880978
NM_016203.4(PRKAG2):c.1201C>G (p.His401Asp) rs878855017
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.4(PRKAG2):c.1591C>T (p.Arg531Trp) rs121908990
NM_016203.4(PRKAG2):c.1642T>G (p.Ser548Ala)
NM_016203.4(PRKAG2):c.1643C>T (p.Ser548Leu) rs1563131309
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu) rs193922697
NM_021957.4(GYS2):c.1062+1G>T rs781511110
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg) rs121918422
NM_021957.4(GYS2):c.942-2A>G
NM_024989.4(PGAP1):c.1351-2A>G
NM_024989.4(PGAP1):c.2287-1G>A
NM_024989.4(PGAP1):c.2338-2A>C rs1559328283
NM_033159.4(HYAL1):c.900+1G>A
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_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs) rs1783731105
NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr)
NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)
NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu) rs200559475
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val) rs1194084403

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