ClinVar Miner

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

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4016
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154 0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000404.4(GLB1):c.75+2dup rs587776525 0.00021
NM_003384.3(VRK1):c.1160G>A (p.Arg387His) rs1420939606 0.00021
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_004130.4(GYG1):c.143+3G>C rs370652040 0.00016
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591 0.00013
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366 0.00012
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000293.3(PHKB):c.1285C>T (p.Arg429Ter) rs563345848 0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys) rs369292480 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) rs149096315 0.00010
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter) rs146195866 0.00010
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter) rs111033608 0.00009
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443 0.00009
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter) rs779769525 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420 0.00009
NM_021957.4(GYS2):c.495+1G>T rs372079212 0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525 0.00008
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) rs149244943 0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter) rs371296953 0.00007
NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter) rs1480850606 0.00007
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter) rs121918021 0.00006
NM_000294.3(PHKG2):c.96-11G>A rs751600886 0.00006
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410 0.00006
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00006
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375 0.00006
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_198586.3(NHLRC1):c.468del (p.Gly158fs) rs757954108 0.00006
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641 0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) rs764920787 0.00005
NM_000155.4(GALT):c.253-2A>G rs111033661 0.00005
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000290.4(PGAM2):c.20del (p.Val7fs) rs764567774 0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn) rs137854544 0.00005
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys) rs748345527 0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter) rs372893383 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter) rs150547274 0.00005
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973 0.00005
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993 0.00005
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731 0.00005
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567 0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.70del (p.Asp24fs) rs1407149518 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272 0.00004
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) rs121918172 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly) rs371397270 0.00004
NM_000203.5(IDUA):c.1403-1G>T rs4690223 0.00004
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00004
NM_000203.5(IDUA):c.536C>T (p.Thr179Met) rs776098539 0.00004
NM_000203.5(IDUA):c.793-1G>A rs762779421 0.00004
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00004
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053 0.00004
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) rs374547385 0.00004
NM_000293.3(PHKB):c.2427+965A>C rs761645932 0.00004
NM_000308.4(CTSA):c.1-2A>G rs979557944 0.00004
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser) rs146093755 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167 0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209 0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00004
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro) rs121918421 0.00004
NM_024989.4(PGAP1):c.2042del (p.Leu681fs) rs756609752 0.00004
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582 0.00004
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864 0.00004
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000035.4(ALDOB):c.-11+1G>C rs181639417 0.00003
NM_000046.5(ARSB):c.1336+2T>G rs768012515 0.00003
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro) rs397514441 0.00003
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn) rs387906505 0.00003
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482 0.00003
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686 0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693 0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967 0.00003
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960 0.00003
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590 0.00003
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter) rs202166715 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351 0.00003
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) rs72555370 0.00003
NM_000404.4(GLB1):c.335A>C (p.His112Pro) rs753965226 0.00003
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys) rs886039377 0.00003
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn) rs118204447 0.00003
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter) rs200374326 0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448 0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881 0.00003
NM_000642.3(AGL):c.1614C>G (p.Tyr538Ter) rs1188310172 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.2681+1G>A rs201201443 0.00003
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) rs771853367 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000925.4(PDHB):c.301A>G (p.Met101Val) rs747573712 0.00003
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs) rs1004027979 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter) rs137852546 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro) rs1005687078 0.00003
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00003
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430 0.00002
NM_000046.5(ARSB):c.1143-1G>C rs431905495 0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter) rs1255777033 0.00002
NM_000108.5(DLD):c.946C>T (p.Arg316Ter) rs748682601 0.00002
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter) rs118204450 0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816 0.00002
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp) rs759982943 0.00002
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln) rs750470654 0.00002
NM_000151.4(G6PC1):c.533C>T (p.Pro178Leu) rs768803329 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483 0.00002
NM_000151.4(G6PC1):c.821C>T (p.Ala274Val) rs774212157 0.00002
NM_000152.5(GAA):c.1076-22T>G rs762260678 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) rs121907942 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) rs764670084 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter) rs1344266804 0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800 0.00002
NM_000158.4(GBE1):c.1468del (p.Leu490fs) rs774465102 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000181.4(GUSB):c.1244+1G>A rs765969571 0.00002
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925 0.00002
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter) rs776787370 0.00002
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099 0.00002
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453 0.00002
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953 0.00002
NM_000308.4(CTSA):c.991del (p.Cys331fs) rs745743780 0.00002
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742 0.00002
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) rs780724173 0.00002
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000404.4(GLB1):c.1442G>A (p.Gly481Glu) rs747812191 0.00002
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881 0.00002
NM_000404.4(GLB1):c.1580G>A (p.Trp527Ter) rs769781778 0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418 0.00002
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881 0.00002
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051 0.00002
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232 0.00002
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663 0.00002
NM_000404.4(GLB1):c.994G>A (p.Asp332Asn) rs781658798 0.00002
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419 0.00002
NM_000512.5(GALNS):c.1157G>A (p.Arg386His) rs1221167717 0.00002
NM_000512.5(GALNS):c.1171A>G (p.Met391Val) rs398123429 0.00002
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653 0.00002
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr) rs763184657 0.00002
NM_000512.5(GALNS):c.498del (p.Phe167fs) rs772656696 0.00002
NM_000512.5(GALNS):c.651_652insG (p.Lys218fs) rs1468285336 0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000512.5(GALNS):c.917T>G (p.Phe306Cys) rs759590432 0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000528.4(MAN2B1):c.1026+2T>G rs369099686 0.00002
NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer) rs999923581 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) rs780517804 0.00002
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter) rs902775927 0.00002
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs) rs769726248 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) rs782090947 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369 0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NM_002863.5(PYGL):c.1366G>A (p.Val456Met) rs113993979 0.00002
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys) rs113993980 0.00002
NM_002863.5(PYGL):c.1768+1G>A rs113993982 0.00002
NM_002863.5(PYGL):c.911_914dup (p.Leu305fs) rs758943884 0.00002
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter) rs184887106 0.00002
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208 0.00002
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro) rs761438921 0.00002
NM_005609.4(PYGM):c.1768+2T>G rs747513238 0.00002
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp) rs750195683 0.00002
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) rs114073621 0.00002
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg) rs768604948 0.00002
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) rs1057517145 0.00002
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00002
NM_005908.4(MANBA):c.2158-2A>G rs772852668 0.00002
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter) rs763849774 0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152419.3(HGSNAT):c.372-2A>G rs483352896 0.00002
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291 0.00001
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000027.4(AGA):c.86del (p.Leu29fs) rs764598121 0.00001
NM_000027.4(AGA):c.940+1G>T rs386833437 0.00001
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608 0.00001
NM_000046.5(ARSB):c.1142+1G>A rs746396210 0.00001
NM_000046.5(ARSB):c.1142+2T>C rs781510986 0.00001
NM_000046.5(ARSB):c.1336+1G>A rs376233975 0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323 0.00001
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter) rs200188234 0.00001
NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter) rs1234650208 0.00001
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.245del (p.Leu82fs) rs750845916 0.00001
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) rs1299207831 0.00001
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942 0.00001
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg) rs118203939 0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847 0.00001
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219 0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160 0.00001
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter) rs80358196 0.00001
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter) rs997047045 0.00001
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter) rs587779399 0.00001
NM_000147.5(FUCA1):c.882G>C (p.Glu294Asp) rs1483687600 0.00001
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) rs1057517008 0.00001
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter) rs1567702823 0.00001
NM_000151.4(G6PC1):c.231-1G>A rs1555559279 0.00001
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176 0.00001
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955 0.00001
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568 0.00001
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr) rs777552825 0.00001
NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro) rs775826449 0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485 0.00001
NM_000151.4(G6PC1):c.757del (p.Ile253fs) rs2056092619 0.00001
NM_000151.4(G6PC1):c.798del (p.Thr267fs) rs749323139 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609 0.00001
NM_000152.5(GAA):c.1076-1G>C rs1555600050 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395 0.00001
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320 0.00001
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly) rs886042961 0.00001
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00001
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs) rs1403500889 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) rs748047271 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.1610del (p.Glu537fs) rs762060817 0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663 0.00001
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475 0.00001
NM_000152.5(GAA):c.1754+1G>A rs886043399 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter) rs749529161 0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2040+1G>T rs1057516928 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2331+2T>A rs1057517148 0.00001
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) rs369532274 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882 0.00001
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278 0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484 0.00001
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503 0.00001
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661 0.00001
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) rs771258854 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.692+5G>T rs763027848 0.00001
NM_000152.5(GAA):c.701C>T (p.Thr234Met) rs752054011 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000154.2(GALK1):c.1059del (p.Thr354fs) rs2061564118 0.00001
NM_000154.2(GALK1):c.611+1G>T rs982043960 0.00001
NM_000154.2(GALK1):c.793+1G>T rs767790909 0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572 0.00001
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg) rs111033824 0.00001
NM_000155.4(GALT):c.199C>T (p.Arg67Cys) rs111033658 0.00001
NM_000155.4(GALT):c.241G>C (p.Ala81Pro) rs111033665 0.00001
NM_000155.4(GALT):c.252+1G>A rs768154316 0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) rs1225091358 0.00001
NM_000155.4(GALT):c.329-2A>C rs111033667 0.00001
NM_000155.4(GALT):c.367C>G (p.Arg123Gly) rs111033674 0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682 0.00001
NM_000155.4(GALT):c.396C>A (p.His132Gln) rs367543256 0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695 0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694 0.00001
NM_000155.4(GALT):c.556C>T (p.His186Tyr) rs111033725 0.00001
NM_000155.4(GALT):c.575G>A (p.Ser192Asn) rs111033734 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736 0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737 0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749 0.00001
NM_000155.4(GALT):c.692G>A (p.Arg231His) rs111033754 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.821-7A>G rs767337193 0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783 0.00001
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) rs1410159094 0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790 0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794 0.00001
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986 0.00001
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808 0.00001
NM_000158.4(GBE1):c.1064G>A (p.Arg355His) rs869312919 0.00001
NM_000158.4(GBE1):c.1239del (p.Asp413fs) rs758504480 0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter) rs781198373 0.00001
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys) rs886058900 0.00001
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp) rs1703086906 0.00001
NM_000158.4(GBE1):c.1823_1824del (p.His608fs) rs1175447973 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) rs766935302 0.00001
NM_000158.4(GBE1):c.42C>G (p.Tyr14Ter) rs1328296506 0.00001
NM_000158.4(GBE1):c.808C>T (p.Gln270Ter) rs559653237 0.00001
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter) rs779475367 0.00001
NM_000158.4(GBE1):c.955C>T (p.His319Tyr) rs767100121 0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173 0.00001
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) rs1434169374 0.00001
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter) rs121918179 0.00001
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter) rs1210475838 0.00001
NM_000181.4(GUSB):c.1651C>T (p.Gln551Ter) rs1344332366 0.00001
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter) rs1459579613 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) rs1323958195 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.1429del (p.Asp477fs) rs781572815 0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 0.00001
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006 0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868 0.00001
NM_000199.5(SGSH):c.302T>C (p.Phe101Ser) rs1211675075 0.00001
NM_000199.5(SGSH):c.376dup (p.Val126fs) rs1555621971 0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000199.5(SGSH):c.545G>A (p.Arg182His) rs372911015 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) rs1555621659 0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909 0.00001
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) rs762903007 0.00001
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896 0.00001
NM_000203.5(IDUA):c.1402+1G>T rs398123254 0.00001
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs) rs761793564 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.158+1G>A rs1264013707 0.00001
NM_000203.5(IDUA):c.1728-1G>C rs1249951282 0.00001
NM_000203.5(IDUA):c.1828+1G>C rs919151683 0.00001
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347 0.00001
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240 0.00001
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000203.5(IDUA):c.386-2A>G rs777295041 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) rs1430681871 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000203.5(IDUA):c.719A>G (p.His240Arg) rs1297784711 0.00001
NM_000203.5(IDUA):c.87del (p.His30fs) rs1193085446 0.00001
NM_000262.3(NAGA):c.443G>A (p.Trp148Ter) rs781137026 0.00001
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys) rs768918822 0.00001
NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg) rs766000735 0.00001
NM_000263.4(NAGLU):c.1162C>T (p.Gln388Ter) rs879111128 0.00001
NM_000263.4(NAGLU):c.1200del (p.Gln400fs) rs1485628563 0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260 0.00001
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp) rs771151036 0.00001
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys) rs1183634153 0.00001
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009 0.00001
NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val) rs1353058781 0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820 0.00001
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) rs1215582852 0.00001
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594 0.00001
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037 0.00001
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) rs1230894568 0.00001
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454 0.00001
NM_000263.4(NAGLU):c.383+1G>T rs727504028 0.00001
NM_000263.4(NAGLU):c.384-1G>A rs764134891 0.00001
NM_000263.4(NAGLU):c.432G>A (p.Trp144Ter) rs748042028 0.00001
NM_000263.4(NAGLU):c.607C>T (p.Arg203Ter) rs1279412522 0.00001
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792 0.00001
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu) rs118204025 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter) rs41291965 0.00001
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) rs138893744 0.00001
NM_000290.4(PGAM2):c.331C>T (p.Gln111Ter) rs764676548 0.00001
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter) rs1273669177 0.00001
NM_000293.3(PHKB):c.2725C>T (p.Gln909Ter) rs748262135 0.00001
NM_000293.3(PHKB):c.522del (p.Val175fs) rs1242540921 0.00001
NM_000294.3(PHKG2):c.226C>T (p.Arg76Ter) rs1450937339 0.00001
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter) rs375063162 0.00001
NM_000294.3(PHKG2):c.502C>T (p.Arg168Ter) rs778952896 0.00001
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) rs1270523244 0.00001
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter) rs1189568492 0.00001
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter) rs766114836 0.00001
NM_000340.2(SLC2A2):c.963+1G>A rs371977235 0.00001
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893 0.00001
NM_000343.4(SLC5A1):c.875G>A (p.Cys292Tyr) rs765502638 0.00001
NM_000402.4(G6PD):c.1451G>A (p.Arg484His) rs137852324 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) rs137852343 0.00001
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn) rs749980306 0.00001
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372 0.00001
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp) rs747709527 0.00001
NM_000404.4(GLB1):c.1258A>C (p.Thr420Pro) rs200181401 0.00001
NM_000404.4(GLB1):c.1276T>G (p.Cys426Gly) rs765230559 0.00001
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) rs72555359 0.00001
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) rs28934886 0.00001
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365 0.00001
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys) rs1553606400 0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn) rs780232995 0.00001
NM_000404.4(GLB1):c.1479+1G>A rs1022476871 0.00001
NM_000404.4(GLB1):c.1480-2A>G rs587776526 0.00001
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368 0.00001
NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys) rs1207569870 0.00001
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) rs776327443 0.00001
NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter) rs1295295164 0.00001
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) rs778375259 0.00001
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) rs794727165 0.00001
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) rs72555371 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) rs72555393 0.00001
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) rs28934274 0.00001
NM_000404.4(GLB1):c.397-1G>A rs398123353 0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233 0.00001
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) rs778700089 0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355 0.00001
NM_000404.4(GLB1):c.569G>A (p.Gly190Asp) rs756575833 0.00001
NM_000404.4(GLB1):c.699del (p.Gln234fs) rs1452318343 0.00001
NM_000404.4(GLB1):c.785G>C (p.Gly262Ala) rs377174858 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880 0.00001
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg) rs368568171 0.00001
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser) rs121918188 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn) rs373739301 0.00001
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu) rs752339162 0.00001
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 0.00001
NM_000512.5(GALNS):c.118G>C (p.Asp40His) rs1967935603 0.00001
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474 0.00001
NM_000512.5(GALNS):c.121A>T (p.Met41Leu) rs1283377907 0.00001
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter) rs757870208 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val) rs1401175486 0.00001
NM_000512.5(GALNS):c.1483-15A>G rs1461992033 0.00001
NM_000512.5(GALNS):c.1A>T (p.Met1Leu) rs771531650 0.00001
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.320-1G>T rs1245504167 0.00001
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116 0.00001
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter) rs398123439 0.00001
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe) rs118204444 0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro) rs771810111 0.00001
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser) rs747805226 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys) rs752039956 0.00001
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln) rs1199639828 0.00001
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser) rs975409254 0.00001
NM_000512.5(GALNS):c.898+1G>A rs761850746 0.00001
NM_000512.5(GALNS):c.898+1G>C rs761850746 0.00001
NM_000512.5(GALNS):c.899-1G>C rs745523154 0.00001
NM_000512.5(GALNS):c.911G>T (p.Gly304Val) rs758439379 0.00001
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997 0.00001
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter) rs778554304 0.00001
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357 0.00001
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992 0.00001
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591 0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927 0.00001
NM_000528.4(MAN2B1):c.1831-2A>G rs80338678 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu) rs1369134650 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 0.00001
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter) rs1429239930 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128 0.00001
NM_000642.3(AGL):c.1571G>A (p.Arg524His) rs758182700 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) rs765367405 0.00001
NM_000642.3(AGL):c.1900-2A>G rs1254391875 0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870 0.00001
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175 0.00001
NM_000642.3(AGL):c.2309-1G>A rs786204481 0.00001
NM_000642.3(AGL):c.2520_2524dup (p.Pro842fs) rs759727721 0.00001
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419 0.00001
NM_000642.3(AGL):c.276del (p.Gln92fs) rs1057517243 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.3014del (p.Cys1005fs) rs754653701 0.00001
NM_000642.3(AGL):c.3259+1G>A rs1394576194 0.00001
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter) rs1432024176 0.00001
NM_000642.3(AGL):c.3554del (p.Thr1185fs) rs764318570 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.3976del (p.Glu1326fs) rs1654902207 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 0.00001
NM_000642.3(AGL):c.595C>T (p.Gln199Ter) rs780694207 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000642.3(AGL):c.685C>T (p.Gln229Ter) rs971749992 0.00001
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010 0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter) rs145362161 0.00001
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489 0.00001
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser) rs199473378 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter) rs766242199 0.00001
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter) rs1444468055 0.00001
NM_001164277.2(SLC37A4):c.1124+1G>T rs782630676 0.00001
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val) rs786204740 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.340C>T (p.Gln114Ter) rs782313064 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val) rs193302879 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu) rs193302890 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs) rs782172072 0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602 0.00001
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) rs773102942 0.00001
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230 0.00001
NM_001352514.2(HLCS):c.2361_2362insT (p.Val788fs) rs760372711 0.00001
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His) rs1557229572 0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220 0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402 0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs) rs397514420 0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) rs771537277 0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429 0.00001
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) rs397514431 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_001370658.1(BTD):c.197T>G (p.Met66Arg) rs587783002 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364 0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001370658.1(BTD):c.577del (p.His193fs) rs780874850 0.00001
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869 0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381 0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383 0.00001
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387 0.00001
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057 0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799 0.00001
NM_001739.2(CA5A):c.94C>T (p.Arg32Ter) rs767402215 0.00001
NM_001931.5(DLAT):c.412G>T (p.Glu138Ter) rs781991355 0.00001
NM_002076.4(GNS):c.1021_1022insTCTT (p.Arg341fs) rs1470760407 0.00001
NM_002076.4(GNS):c.355del (p.Ser119fs) rs749187018 0.00001
NM_002076.4(GNS):c.875+2del rs1219484230 0.00001
NM_002103.5(GYS1):c.1384C>T (p.Arg462Ter) rs121434584 0.00001
NM_002637.4(PHKA1):c.1174C>T (p.Arg392Ter) rs1556299510 0.00001
NM_002637.4(PHKA1):c.1759C>T (p.Arg587Ter) rs1157788242 0.00001
NM_002863.5(PYGL):c.1726C>T (p.Arg576Ter) rs774646420 0.00001
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) rs113993975 0.00001
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs) rs892468166 0.00001
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter) rs772263867 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003384.3(VRK1):c.6del (p.Arg3fs) rs780789145 0.00001
NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer) rs752086581 0.00001
NM_004130.4(GYG1):c.631del (p.Val211fs) rs1429663478 0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143 0.00001
NM_005609.4(PYGM):c.1159del (p.Arg387fs) rs2058376454 0.00001
NM_005609.4(PYGM):c.1239+1G>A rs759657964 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.1353dup (p.Ala452fs) rs779562449 0.00001
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln) rs143550601 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259 0.00001
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu) rs794727189 0.00001
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val) rs1483102315 0.00001
NM_005609.4(PYGM):c.2385_2386del (p.Glu797fs) rs750080547 0.00001
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) rs370247862 0.00001
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg) rs760654579 0.00001
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter) rs1223885403 0.00001
NM_005609.4(PYGM):c.661-601G>A rs1474863903 0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs) rs755117847 0.00001
NM_005908.4(MANBA):c.1434del (p.Lys479fs) rs776601022 0.00001
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668 0.00001
NM_005908.4(MANBA):c.1628G>A (p.Trp543Ter) rs1309076303 0.00001
NM_005908.4(MANBA):c.279G>A (p.Trp93Ter) rs1035305358 0.00001
NM_005908.4(MANBA):c.375A>G (p.Arg125=) rs771587242 0.00001
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer) rs752343321 0.00001
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter) rs1553948361 0.00001
NM_005908.4(MANBA):c.960+1G>A rs890870104 0.00001
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter) rs764858363 0.00001
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs) rs386833987 0.00001
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) rs1057516910 0.00001
NM_012434.5(SLC17A5):c.1259+1G>A rs146095590 0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs) rs1472109408 0.00001
NM_012434.5(SLC17A5):c.795_796insTT (p.Ile266fs) rs1768947811 0.00001
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr) rs1325914775 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_016219.5(MAN1B1):c.172G>T (p.Glu58Ter) rs753503405 0.00001
NM_016219.5(MAN1B1):c.484C>T (p.Gln162Ter) rs1207589187 0.00001
NM_021957.4(GYS2):c.457del (p.Met152_Leu153insTer) rs1307281520 0.00001
NM_021957.4(GYS2):c.925C>T (p.Arg309Ter) rs267603422 0.00001
NM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter) rs143038880 0.00001
NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter) rs755341613 0.00001
NM_024989.4(PGAP1):c.1952+1G>C rs587777202 0.00001
NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs) rs767774867 0.00001
NM_031229.4(RBCK1):c.1054C>T (p.Arg352Ter) rs780854072 0.00001
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs) rs730880330 0.00001
NM_033159.4(HYAL1):c.773C>G (p.Ser258Ter) rs782355058 0.00001
NM_033159.4(HYAL1):c.787C>T (p.Gln263Ter) rs782240278 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894 0.00001
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs) rs771455190 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928 0.00001
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe) rs121908286 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) rs1563366896 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_152419.3(HGSNAT):c.852-2A>C rs755710040 0.00001
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793 0.00001
G6PD Amsterdam rs2070404412
NC_000001.10:g.(?_100316599)_(100316700_?)del
NC_000001.10:g.(?_100340233)_(100343394_?)del
NC_000001.10:g.(?_100366182)_(100368360_?)del
NC_000001.10:g.(?_100366308)_(100367832_?)del
NC_000001.10:g.(?_100368229)_(100368360_?)del
NC_000001.10:g.(?_100380935)_(100382063_?)del
NC_000001.10:g.(?_24172205)_(24194776_?)del
NC_000001.10:g.(?_24191961)_(24194776_?)del
NC_000001.11:g.(?_23859778)_(23859923_?)del
NC_000001.11:g.(?_99892422)_(99892617_?)del
NC_000001.11:g.(?_99902663)_(99902814_?)del
NC_000001.11:g.(?_99910692)_(99910867_?)del
NC_000001.11:g.(?_99910692)_(99913758_?)del
NC_000001.11:g.99891220del rs2100788198
NC_000003.11:g.(?_148447967)_(151176497_?)del
NC_000003.11:g.(?_15512023)_(15687154_?)del
NC_000003.11:g.(?_15643358)_(15643421_?)del
NC_000003.11:g.(?_15643358)_(15683584_?)del
NC_000003.11:g.(?_15683405)_(15687154_?)del
NC_000003.11:g.(?_170727727)_(170727891_?)del
NC_000003.11:g.(?_170732238)_(170732540_?)del
NC_000003.11:g.(?_33055538)_(33055812_?)del
NC_000003.11:g.(?_33099561)_(33099781_?)del
NC_000003.11:g.(?_33106935)_(33110482_?)del
NC_000003.11:g.(?_33106935)_(33114225_?)del
NC_000003.11:g.(?_50338409)_(50341042_?)del
NC_000003.11:g.(?_50339478)_(50341042_?)del
NC_000003.11:g.(?_50340112)_(50342638_?)del
NC_000003.11:g.(?_81539548)_(81699082_?)del
NC_000003.11:g.(?_81539548)_(81754774_?)del
NC_000003.11:g.(?_81584336)_(81584486_?)del
NC_000003.11:g.(?_81584336)_(81754774_?)del
NC_000003.11:g.(?_81584336)_(81810678_?)del
NC_000003.11:g.(?_81627056)_(81810688_?)del
NC_000003.11:g.(?_81627066)_(81643184_?)del
NC_000003.11:g.(?_81627066)_(81754774_?)del
NC_000003.11:g.(?_81691922)_(81699082_?)del
NC_000003.11:g.(?_81691922)_(81754774_?)del
NC_000003.11:g.(?_81695533)_(81695643_?)del
NC_000003.11:g.(?_81810516)_(81810678_?)del
NC_000003.12:g.(?_15601831)_(15601914_?)del
NC_000003.12:g.(?_33097001)_(33097095_?)del
NC_000003.12:g.(?_81490387)_(81761537_?)del
NC_000003.12:g.(?_81490397)_(81761527_?)del
NC_000003.12:g.(?_81499090)_(81761537_?)del
NC_000003.12:g.(?_81591027)_(81594033_?)del
NC_000003.12:g.(?_81642771)_(81643000_?)del
NC_000003.12:g.(?_81642771)_(81670963_?)del
NC_000003.12:g.(?_81646382)_(81670963_?)del
NC_000003.12:g.(?_81761375)_(81761517_?)del
NC_000003.12:g.148996742del
NC_000003.12:g.81594024_81594025insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTCCCAGC
NC_000004.11:g.(?_101947022)_(104640832_?)del
NC_000004.11:g.(?_178351918)_(178357515_?)del
NC_000004.11:g.(?_178357420)_(178363667_?)del
NC_000004.11:g.(?_178363393)_(178363667_?)del
NC_000004.11:g.(?_980775)_(981040_?)del
NC_000004.11:g.(?_980775)_(981747_?)del
NC_000004.11:g.(?_994390)_(998355_?)del
NC_000004.11:g.(?_996510)_(998355_?)del
NC_000005.10:g.(?_78964406)_(78969202_?)del
NC_000005.9:g.(?_77385207)_(78135259_?)del
NC_000005.9:g.(?_78076210)_(78181660_?)del
NC_000005.9:g.(?_78111899)_(78135259_?)del
NC_000005.9:g.(?_78251108)_(78251335_?)del
NC_000005.9:g.(?_78251108)_(78281081_?)del
NC_000005.9:g.(?_78260219)_(78265035_?)del
NC_000006.11:g.(?_18121650)_(18149358_?)del
NC_000006.11:g.(?_72596727)_(74363609_?)del
NC_000006.11:g.(?_74304790)_(74310174_?)del
NC_000006.11:g.(?_74304790)_(74354336_?)del
NC_000006.11:g.(?_74310064)_(74310174_?)del
NC_000006.11:g.(?_74320103)_(74320290_?)del
NC_000006.11:g.(?_74325018)_(74325190_?)del
NC_000006.11:g.(?_74331507)_(74331705_?)del
NC_000006.11:g.(?_74345095)_(74345233_?)del
NC_000006.11:g.(?_74345095)_(74346440_?)del
NC_000006.11:g.(?_74363496)_(74363609_?)del
NC_000006.12:g.(?_73641681)_(73644613_?)del
NC_000006.12:g.(?_73644397)_(73644613_?)del
NC_000007.13:g.(?_107412489)_(107559714_?)del
NC_000007.13:g.(?_107556049)_(107558012_?)del
NC_000007.13:g.(?_44102363)_(44105128_?)del
NC_000007.14:g.(?_107901728)_(107906378_?)del
NC_000007.14:g.(?_65960877)_(66092932_?)del
NC_000007.14:g.(?_65967711)_(65970386_?)del
NC_000007.14:g.(?_65970262)_(65970386_?)del
NC_000007.14:g.(?_65974275)_(65982203_?)del
NC_000007.14:g.65974442del
NC_000008.10:g.(?_42977230)_(43002226_?)del
NC_000008.10:g.(?_43002071)_(43033397_?)del
NC_000008.10:g.(?_43024296)_(43024405_?)del
NC_000008.11:g.(?_43140497)_(43161507_?)del
NC_000008.11:g.(?_43169153)_(43178254_?)del
NC_000008.11:g.(?_43196928)_(43197972_?)del
NC_000009.11:g.(?_104124710)_(104500261_?)del
NC_000009.11:g.(?_104188817)_(104193189_?)del
NC_000009.11:g.(?_104188827)_(104193169_?)del
NC_000009.11:g.(?_139089171)_(141016451_?)del
NC_000009.11:g.(?_139981452)_(139983477_?)del
NC_000009.11:g.(?_34646573)_(34650446_?)del
NC_000009.11:g.(?_34646579)_(34655067_?)del
NC_000009.12:g.(?_101424833)_(101437751_?)del
NC_000009.12:g.(?_101426493)_(101437751_?)del
NC_000009.12:g.(?_34645559)_(34648914_?)del
NC_000009.12:g.(?_34645559)_(34649574_?)del
NC_000009.12:g.(?_34645559)_(34651238_?)del
NC_000009.12:g.(?_34646586)_(34651238_?)del
NC_000009.12:g.(?_34646609)_(34650459_?)del
NC_000009.12:g.(?_94639121)_(94639330_?)del
NC_000011.10:g.(?_119024900)_(119029379_?)del
NC_000011.10:g.(?_119028174)_(119029389_?)del
NC_000011.10:g.(?_64750356)_(64750603_?)del
NC_000011.10:g.(?_64750366)_(64750593_?)del
NC_000011.10:g.(?_64758226)_(64758724_?)del
NC_000011.9:g.(?_118899922)_(118900089_?)del
NC_000011.9:g.(?_64514121)_(64518065_?)del
NC_000011.9:g.(?_64517838)_(64522318_?)del
NC_000011.9:g.(?_64522783)_(66283694_?)del
NC_000011.9:g.(?_64525241)_(64527380_?)del
NC_000011.9:g.(?_66618135)_(66639640_?)del
NC_000012.12:g.(?_64739371)_(64747928_?)del
NC_000014.8:g.(?_51372090)_(51411141_?)del
NC_000014.8:g.(?_97299809)_(97327092_?)del
NC_000014.8:g.(?_97319158)_(97322933_?)del
NC_000014.8:g.(?_97326874)_(97327092_?)del
NC_000014.9:g.(?_50909875)_(50912323_?)del
NC_000014.9:g.(?_96810669)_(96860745_?)del
NC_000014.9:g.(?_96846075)_(96847364_?)del
NC_000014.9:g.(?_96846085)_(96847354_?)del
NC_000014.9:g.(?_96856120)_(96860745_?)del
NC_000016.10:g.(?_47669195)_(47669437_?)del
NC_000016.10:g.(?_87888109)_(87891974_?)del
NC_000016.10:g.(?_87904766)_(87904924_?)del
NC_000016.10:g.(?_88814419)_(88856897_?)del
NC_000016.10:g.(?_88822569)_(88842849_?)del
NC_000016.10:g.(?_88826682)_(88826858_?)del
NC_000016.10:g.(?_88837602)_(88842849_?)del
NC_000016.10:g.(?_88840972)_(88842849_?)del
NC_000016.10:g.(?_88856738)_(88856897_?)del
NC_000016.10:g.47499755GTCAA[1]
NC_000016.10:g.88832102del rs2142999219
NC_000016.10:g.88856801_88856960del
NC_000016.9:g.(?_47495262)_(47644851_?)del
NC_000016.9:g.(?_47531290)_(47581479_?)del
NC_000016.9:g.(?_47545556)_(47581479_?)del
NC_000016.9:g.(?_47614186)_(47644851_?)del
NC_000016.9:g.(?_87636753)_(88505740_?)del
NC_000016.9:g.(?_87938372)_(87960571_?)del
NC_000016.9:g.(?_87960334)_(87970056_?)del
NC_000016.9:g.(?_88923146)_(88923285_?)del
NC_000017.10:g.(?_40688281)_(40693234_?)del
NC_000017.10:g.(?_40689396)_(40690793_?)del
NC_000017.10:g.(?_40690337)_(40690793_?)del
NC_000017.10:g.(?_40690347)_(40690783_?)del
NC_000017.10:g.(?_41052894)_(41056246_?)del
NC_000017.10:g.(?_41052894)_(41059665_?)del
NC_000017.10:g.(?_41052894)_(41063443_?)del
NC_000017.10:g.(?_41055928)_(41056246_?)del
NC_000017.10:g.(?_41055938)_(41063453_?)del
NC_000017.10:g.(?_41059530)_(41059655_?)del
NC_000017.10:g.(?_73753076)_(73754632_?)del
NC_000017.10:g.(?_73754127)_(73754690_?)del
NC_000017.10:g.(?_73754127)_(73761239_?)del
NC_000017.10:g.(?_73758775)_(73761239_?)del
NC_000017.10:g.(?_73759968)_(73761239_?)del
NC_000017.10:g.(?_78082486)_(78087175_?)del
NC_000017.10:g.(?_78084516)_(78084834_?)del
NC_000017.10:g.(?_78085283)_(78092476_?)del
NC_000017.10:g.(?_78090757)_(78092614_?)del
NC_000017.10:g.(?_78091652)_78092189del
NC_000017.10:g.(?_78091972)_(78092176_?)del
NC_000017.10:g.(?_78188510)_(78190896_?)del
NC_000017.10:g.(?_78194005)_(78194112_?)del
NC_000017.10:g.(?_78194005)_(78194132_?)del
NC_000017.11:g.(?_42900800)_(42904229_?)del
NC_000017.11:g.(?_80104542)_(80105914_?)del
NC_000017.11:g.(?_80108677)_(80113386_?)del
NC_000017.11:g.(?_80109935)_(80113376_?)del
NC_000017.11:g.(?_80118183)_(80118367_?)del
NC_000017.11:g.(?_80118193)_(80118357_?)del
NC_000017.11:g.(?_80213794)_(80215148_?)del
NC_000019.10:g.(?_12656561)_(12661386_?)del
NC_000019.9:g.(?_12757424)_(12769334_?)del
NC_000019.9:g.(?_12757434)_(12761056_?)del
NC_000019.9:g.(?_12757434)_(12780217_?)del
NC_000019.9:g.(?_12768857)_(12780217_?)del
NC_000019.9:g.(?_12768867)_(12769334_?)del
NC_000019.9:g.(?_12774121)_(12774659_?)del
NC_000019.9:g.(?_12775596)_(12777525_?)del
NC_000019.9:g.(?_49477450)_(49478010_?)del
NC_000019.9:g.(?_49485502)_(49486104_?)del
NC_000021.8:g.(?_38132018)_(38362704_?)del
NC_000021.8:g.(?_38269140)_(38269451_?)del
NC_000021.8:g.(?_38269140)_(38311203_?)del
NC_000021.8:g.(?_38269150)_(38269441_?)del
NC_000021.8:g.(?_38302541)_(38311304_?)del
NC_000021.9:g.(?_36765002)_(36767295_?)del
NC_000021.9:g.(?_36938822)_(36939004_?)del
NC_000022.10:g.(?_42456283)_(42463314_?)del
NC_000022.10:g.(?_42461722)_(42464598_?)del
NC_000023.10:g.(?_119565168)_(119603034_?)del
NC_000023.10:g.(?_119565178)_(119576537_?)del
NC_000023.10:g.(?_119602941)_(119603024_?)del
NC_000023.10:g.(?_148564257)_(148586687_?)del
NC_000023.10:g.(?_148564267)_(148586894_?)del
NC_000023.10:g.(?_148564277)_(148564769_?)del
NC_000023.10:g.(?_148564277)_(148586667_?)del
NC_000023.10:g.(?_148571835)_(148582578_?)del
NC_000023.10:g.(?_148577857)_(148579858_?)del
NC_000023.10:g.(?_148578704)_(148586687_?)del
NC_000023.10:g.(?_148579618)_(148586687_?)del
NC_000023.10:g.(?_152014869)_(154563736_?)del
NC_000023.10:g.(?_18660114)_(19377781_?)del
NC_000023.10:g.(?_18925998)_(18929098_?)del
NC_000023.11:g.(?_120428464)_(120469189_?)del
NC_000023.11:g.(?_120431313)_(120470223_?)del
NC_000023.11:g.(?_120441710)_(120449148_?)del
NC_000023.11:g.(?_18920012)_(18920221_?)del
NC_000023.11:g.(?_18929208)_(18983952_?)del
NC_000023.11:g.(?_72644342)_(72676170_?)del
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.128-2A>G rs2111022003
NM_000027.4(AGA):c.172G>T (p.Glu58Ter)
NM_000027.4(AGA):c.187dup (p.Met63fs) rs2111021738
NM_000027.4(AGA):c.192del (p.Cys64fs) rs1553994830
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.210del (p.Asp70fs) rs1736955435
NM_000027.4(AGA):c.214T>C (p.Ser72Pro) rs121964909
NM_000027.4(AGA):c.268dup (p.Met90fs) rs2111021475
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.329del (p.Asn110fs) rs764357395
NM_000027.4(AGA):c.333del (p.Ile112fs) rs1057517223
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.367_371del (p.Thr123fs) rs1736928101
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.375_376del (p.Leu126fs) rs386833425
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
NM_000027.4(AGA):c.389_390del (p.Glu130fs)
NM_000027.4(AGA):c.3G>C (p.Met1Ile) rs937973897
NM_000027.4(AGA):c.454C>T (p.Gln152Ter) rs991950983
NM_000027.4(AGA):c.509dup (p.Asn170fs) rs2111015936
NM_000027.4(AGA):c.519dup (p.Asp174fs) rs2111015862
NM_000027.4(AGA):c.52C>T (p.Gln18Ter)
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.555_558del (p.Gly186fs) rs1736861131
NM_000027.4(AGA):c.55del (p.Ala19fs)
NM_000027.4(AGA):c.595G>T (p.Glu199Ter) rs370078048
NM_000027.4(AGA):c.665del (p.Thr222fs)
NM_000027.4(AGA):c.698+1del rs2111013273
NM_000027.4(AGA):c.797dup (p.Leu267fs)
NM_000027.4(AGA):c.859C>T (p.Gln287Ter) rs1736687730
NM_000027.4(AGA):c.864del (p.Lys288_Val289insTer)
NM_000027.4(AGA):c.940+1G>A rs386833437
NM_000027.4(AGA):c.9del (p.Lys4fs)
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.136del (p.Arg46fs)
NM_000035.4(ALDOB):c.149_155dup (p.Glu53fs) rs2118362726
NM_000035.4(ALDOB):c.227dup (p.Val77fs) rs2118362340
NM_000035.4(ALDOB):c.235del (p.Leu79fs)
NM_000035.4(ALDOB):c.250del (p.Leu84fs) rs1831190354
NM_000035.4(ALDOB):c.255C>G (p.Tyr85Ter) rs761063847
NM_000035.4(ALDOB):c.271G>T (p.Gly91Ter)
NM_000035.4(ALDOB):c.302del (p.Lys101fs) rs974582114
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.325-1G>T rs1402966846
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter) rs528914024
NM_000035.4(ALDOB):c.34C>T (p.Gln12Ter) rs190631679
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.360del (p.Asn120fs) rs2118358565
NM_000035.4(ALDOB):c.414C>A (p.Tyr138Ter)
NM_000035.4(ALDOB):c.427del (p.Val143fs) rs2118355498
NM_000035.4(ALDOB):c.43del (p.Glu15fs) rs1831209087
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) rs1057516902
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter) rs1831149748
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter) rs752902486
NM_000035.4(ALDOB):c.539del (p.Gln180fs)
NM_000035.4(ALDOB):c.607C>T (p.Gln203Ter) rs868392830
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter) rs2118366288
NM_000035.4(ALDOB):c.642C>A (p.Tyr214Ter)
NM_000035.4(ALDOB):c.673del (p.Glu225fs) rs758133069
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)
NM_000035.4(ALDOB):c.761dup (p.Thr255fs) rs2118345550
NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro) rs764701775
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs) rs2118342944
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter) rs1249398093
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter) rs1057517133
NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter) rs1172384674
NM_000035.4(ALDOB):c.999+2T>C
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter) rs1747989303
NM_000046.5(ARSB):c.103_118del (p.Pro35fs) rs2112583121
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
NM_000046.5(ARSB):c.108_120del (p.Ser37fs) rs1028653411
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.113del (p.Gly38fs) rs1349838988
NM_000046.5(ARSB):c.1142+2T>A rs781510986
NM_000046.5(ARSB):c.1143-1G>T
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.1178A>G (p.His393Arg) rs118203944
NM_000046.5(ARSB):c.118_134del (p.Gly40fs) rs398123123
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1208C>G (p.Ser403Ter) rs771296632
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.121dup (p.Ala41fs) rs1561197865
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs) rs766772376
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter) rs1355071930
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1336+2T>C rs768012515
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1418G>A (p.Trp473Ter)
NM_000046.5(ARSB):c.1433del (p.Asp478fs)
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter) rs771113472
NM_000046.5(ARSB):c.1521dup (p.His508fs)
NM_000046.5(ARSB):c.1533del (p.Val512fs)
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.1539C>A (p.Tyr513Ter)
NM_000046.5(ARSB):c.1558del (p.Arg520fs) rs1160897474
NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr) rs1554069661
NM_000046.5(ARSB):c.1577del (p.Thr526fs) rs1554069660
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp) rs1554069655
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn) rs1554032216
NM_000046.5(ARSB):c.170G>A (p.Trp57Ter) rs200712296
NM_000046.5(ARSB):c.173del (p.Asn58fs) rs1180759765
NM_000046.5(ARSB):c.17_21dup (p.Ser8fs)
NM_000046.5(ARSB):c.223del (p.Leu75fs)
NM_000046.5(ARSB):c.237_243del (p.Val80fs) rs1554032134
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.255C>G (p.Tyr85Ter)
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys) rs751010538
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter) rs1554032094
NM_000046.5(ARSB):c.310C>T (p.Gln104Ter) rs1753093650
NM_000046.5(ARSB):c.31C>T (p.Arg11Ter)
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.352_365dup (p.Pro123fs)
NM_000046.5(ARSB):c.359dup (p.Ser120fs)
NM_000046.5(ARSB):c.376G>T (p.Glu126Ter)
NM_000046.5(ARSB):c.385del (p.Leu129fs) rs1752338387
NM_000046.5(ARSB):c.403G>T (p.Glu135Ter)
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.430G>C (p.Gly144Arg) rs746206847
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.468del (p.Pro157fs) rs2112529559
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.54del (p.Leu19fs)
NM_000046.5(ARSB):c.551T>C (p.Ile184Thr)
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter) rs773460207
NM_000046.5(ARSB):c.64dup (p.Val22fs) rs2112583680
NM_000046.5(ARSB):c.680del (p.Pro227fs)
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.715C>T (p.Gln239Ter)
NM_000046.5(ARSB):c.745G>T (p.Glu249Ter)
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter) rs1554086414
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser) rs1554086402
NM_000046.5(ARSB):c.823G>T (p.Glu275Ter) rs1580121683
NM_000046.5(ARSB):c.866_867insTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGCAGTGGGCT (p.Leu289_Trp290insGlyArgProArgArgAlaAspHisGluValLysArgSerArgProSerArgLeuLysArgTer) rs2112483439
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu) rs1408739927
NM_000046.5(ARSB):c.916_917del (p.Leu306fs)
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu) rs1554079333
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser) rs749989641
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.5(ARSB):c.956G>A (p.Trp319Ter)
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000046.5(ARSB):c.966G>A (p.Trp322Ter) rs1554079318
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000108.5(DLD):c.104del (p.Tyr35fs)
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr) rs2116271469
NM_000108.5(DLD):c.105C>A (p.Tyr35Ter)
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) rs1554396895
NM_000108.5(DLD):c.1116_1117del (p.Ile372fs)
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.1139del (p.Gly380fs)
NM_000108.5(DLD):c.1158C>G (p.Tyr386Ter)
NM_000108.5(DLD):c.1182C>G (p.Tyr394Ter) rs757087726
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
NM_000108.5(DLD):c.1232_1233del (p.Glu411fs)
NM_000108.5(DLD):c.1245_1249del (p.Tyr416fs) rs2116273912
NM_000108.5(DLD):c.12G>A (p.Trp4Ter) rs1562908173
NM_000108.5(DLD):c.1344_1347del (p.Asp448fs) rs1402761530
NM_000108.5(DLD):c.1396G>T (p.Glu466Ter) rs2116277809
NM_000108.5(DLD):c.140T>C (p.Ile47Thr) rs397514651
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs) rs1214130226
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs) rs1554400713
NM_000108.5(DLD):c.1464+1G>A
NM_000108.5(DLD):c.175A>T (p.Lys59Ter)
NM_000108.5(DLD):c.24C>G (p.Tyr8Ter) rs778122189
NM_000108.5(DLD):c.285_286del (p.His96fs)
NM_000108.5(DLD):c.308_310delinsT (p.Gly103fs) rs2031929480
NM_000108.5(DLD):c.362del (p.Asp121fs) rs2116219533
NM_000108.5(DLD):c.380del (p.Lys127fs)
NM_000108.5(DLD):c.3G>A (p.Met1Ile)
NM_000108.5(DLD):c.459T>G (p.Tyr153Ter) rs2116221384
NM_000108.5(DLD):c.529A>T (p.Lys177Ter)
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.647del (p.Met216fs)
NM_000108.5(DLD):c.783del (p.Gln262fs) rs1562919685
NM_000108.5(DLD):c.813del (p.Lys271fs)
NM_000108.5(DLD):c.821dup (p.Leu274fs) rs751883130
NM_000108.5(DLD):c.82dup (p.Ser28fs)
NM_000108.5(DLD):c.854C>G (p.Ser285Ter)
NM_000108.5(DLD):c.987dup (p.Glu330Ter)
NM_000108.5(DLD):c.988G>T (p.Glu330Ter)
NM_000147.5(FUCA1):c.1054C>T (p.Gln352Ter)
NM_000147.5(FUCA1):c.1057G>T (p.Glu353Ter)
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter) rs864309551
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter) rs794727774
NM_000147.5(FUCA1):c.1131_1132delinsTT (p.Gln378Ter)
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.5(FUCA1):c.1206G>A (p.Trp402Ter)
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter) rs764863416
NM_000147.5(FUCA1):c.1260+2T>A
NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs) rs1186488065
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
NM_000147.5(FUCA1):c.167_170dup (p.Lys57fs)
NM_000147.5(FUCA1):c.194G>A (p.Gly65Asp)
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter) rs1639662981
NM_000147.5(FUCA1):c.23C>A (p.Ser8Ter)
NM_000147.5(FUCA1):c.291C>G (p.Tyr97Ter)
NM_000147.5(FUCA1):c.293dup (p.Pro99fs)
NM_000147.5(FUCA1):c.355_364del (p.Glu119fs)
NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter) rs781230182
NM_000147.5(FUCA1):c.459G>A (p.Trp153Ter)
NM_000147.5(FUCA1):c.460_475del (p.Asn154fs)
NM_000147.5(FUCA1):c.557T>A (p.Leu186Ter)
NM_000147.5(FUCA1):c.563G>A (p.Trp188Ter)
NM_000147.5(FUCA1):c.607del (p.Thr203fs)
NM_000147.5(FUCA1):c.610_614del (p.Gln204fs)
NM_000147.5(FUCA1):c.661del (p.Ser221fs)
NM_000147.5(FUCA1):c.671del (p.Pro224fs) rs2148446020
NM_000147.5(FUCA1):c.679_683del (p.Ile227fs)
NM_000147.5(FUCA1):c.679_683dup (p.Trp228Ter)
NM_000147.5(FUCA1):c.698G>A (p.Trp233Ter)
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter)
NM_000147.5(FUCA1):c.7del (p.Ala3fs) rs1639669672
NM_000147.5(FUCA1):c.80C>A (p.Ser27Ter)
NM_000147.5(FUCA1):c.810del (p.Cys271fs) rs1557510081
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter) rs201499886
NM_000147.5(FUCA1):c.969+1G>T
NM_000151.4(G6PC1):c.1004del (p.Leu335fs)
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.1018_1026del (p.Val340_Pro342del) rs1200748845
NM_000151.4(G6PC1):c.132C>G (p.Tyr44Ter)
NM_000151.4(G6PC1):c.136del (p.Leu46fs) rs1057517227
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC1):c.160_224dup (p.Phe75_Lys76insArgLysLeuTrpAlaLeuAsnSerPheGlyTer) rs2151929143
NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn) rs2056023296
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC1):c.230+1G>C rs863224023
NM_000151.4(G6PC1):c.230+1G>T
NM_000151.4(G6PC1):c.231G>A (p.Trp77Ter)
NM_000151.4(G6PC1):c.238T>A (p.Phe80Ile)
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter) rs748363083
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter) rs142917638
NM_000151.4(G6PC1):c.261G>A (p.Trp87Ter)
NM_000151.4(G6PC1):c.262del (p.Val88fs) rs755612674
NM_000151.4(G6PC1):c.267_268delinsC (p.Leu89fs)
NM_000151.4(G6PC1):c.279C>A (p.Tyr93Ter)
NM_000151.4(G6PC1):c.302del (p.Leu101fs) rs2151930031
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter) rs2056043532
NM_000151.4(G6PC1):c.323C>T (p.Thr108Ile) rs1597988331
NM_000151.4(G6PC1):c.324del (p.Cys109fs) rs2151930039
NM_000151.4(G6PC1):c.325T>C (p.Cys109Arg)
NM_000151.4(G6PC1):c.341-7_356del
NM_000151.4(G6PC1):c.352G>A (p.Gly118Ser) rs761007323
NM_000151.4(G6PC1):c.356A>T (p.His119Leu) rs1401928680
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter) rs764401169
NM_000151.4(G6PC1):c.388_389delinsTA (p.Met130Ter) rs2056069710
NM_000151.4(G6PC1):c.403_404del (p.Leu135fs) rs2151931178
NM_000151.4(G6PC1):c.450del (p.Cys150_Leu151insTer) rs2151931733
NM_000151.4(G6PC1):c.462_466del (p.Ile154fs)
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC1):c.480G>A (p.Trp160Ter)
NM_000151.4(G6PC1):c.497T>G (p.Val166Gly) rs104894571
NM_000151.4(G6PC1):c.503_506dup (p.Arg170fs) rs2151931748
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter) rs2056081719
NM_000151.4(G6PC1):c.511del (p.Ile171fs) rs1597990895
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.549dup (p.Gly184fs) rs2151931799
NM_000151.4(G6PC1):c.54C>A (p.Tyr18Ter) rs1414234636
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter) rs1485038937
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys) rs2056091436
NM_000151.4(G6PC1):c.662dup (p.Gly222fs)
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg) rs1410392732
NM_000151.4(G6PC1):c.69C>G (p.Tyr23Ter)
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg) rs2056092151
NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter) rs2151932291
NM_000151.4(G6PC1):c.732G>A (p.Trp244Ter)
NM_000151.4(G6PC1):c.735C>A (p.Cys245Ter)
NM_000151.4(G6PC1):c.750G>A (p.Trp250Ter) rs140869027
NM_000151.4(G6PC1):c.788del (p.Lys263fs)
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter) rs1057516367
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.826_830del (p.Asn276fs)
NM_000151.4(G6PC1):c.858del (p.Lys287fs) rs1057516858
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val) rs1567706564
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
NM_000152.5(GAA):c.-32-385_143del
NM_000152.5(GAA):c.-32-3C>A rs1055945806
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp) rs2039143109
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) rs730880022
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs) rs1567829962
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1054C>T (p.Gln352Ter)
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1075G>A (p.Gly359Arg)
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter) rs1064794288
NM_000152.5(GAA):c.1082dup (p.Phe362fs) rs2143854537
NM_000152.5(GAA):c.1091del (p.Pro364fs) rs2143854659
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter) rs1478500490
NM_000152.5(GAA):c.1105dup (p.Leu369fs)
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter) rs1567830317
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1165del (p.Glu389fs) rs1555600111
NM_000152.5(GAA):c.1192del (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1198del (p.Val400fs)
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro) rs2143857207
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_000152.5(GAA):c.1225dup (p.Asp409fs) rs2039157751
NM_000152.5(GAA):c.1241del (p.Phe414fs)
NM_000152.5(GAA):c.1274del (p.Pro425fs)
NM_000152.5(GAA):c.1285C>T (p.Gln429Ter)
NM_000152.5(GAA):c.1293_1312del (p.Gln433fs)
NM_000152.5(GAA):c.1298_1301delinsTCCTGCACCATGGC (p.Gln433fs) rs2143858151
NM_000152.5(GAA):c.1308del (p.Arg437fs) rs2143858305
NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter)
NM_000152.5(GAA):c.1336dup (p.Ile446fs) rs2143865725
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs) rs2039190879
NM_000152.5(GAA):c.1356_1365del (p.Ser454fs)
NM_000152.5(GAA):c.1356del (p.Ser454fs) rs2039191420
NM_000152.5(GAA):c.1364A>G (p.Tyr455Cys)
NM_000152.5(GAA):c.1365del (p.Ser454_Tyr455insTer)
NM_000152.5(GAA):c.1370C>G (p.Pro457Arg)
NM_000152.5(GAA):c.1374_1375delinsTA (p.Asp459Asn) rs2143866239
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.5(GAA):c.1376_1377del (p.Asp459fs) rs2143866321
NM_000152.5(GAA):c.1377dup (p.Glu460fs) rs2039192386
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro) rs2039192921
NM_000152.5(GAA):c.1396del (p.Val466fs) rs1273392818
NM_000152.5(GAA):c.1396dup (p.Val466fs)
NM_000152.5(GAA):c.1417_1420del (p.Gly473fs)
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs) rs2039195145
NM_000152.5(GAA):c.1431del (p.Ile477fs) rs1598580364
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1437+2T>C rs1598580407
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1441T>A (p.Trp481Arg)
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter) rs2143871845
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) rs2039212985
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.1464dup (p.Asp489fs) rs2039213824
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.148G>T (p.Glu50Ter) rs1555598609
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1519dup (p.His507fs) rs2039216097
NM_000152.5(GAA):c.1551+1G>A rs770780848
NM_000152.5(GAA):c.1551+1G>C rs770780848
NM_000152.5(GAA):c.1552-2A>G rs1555600846
NM_000152.5(GAA):c.1555A>G (p.Met519Val) rs1598581919
NM_000152.5(GAA):c.1557G>A (p.Met519Ile) rs1447365901
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs) rs2143874124
NM_000152.5(GAA):c.1559del (p.Asn520fs) rs2143874154
NM_000152.5(GAA):c.1560del (p.Asn520fs)
NM_000152.5(GAA):c.1561G>C (p.Glu521Gln)
NM_000152.5(GAA):c.1561del (p.Glu521fs)
NM_000152.5(GAA):c.1562A>T (p.Glu521Val) rs1455277014
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr) rs892129065
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.156_157del (p.His53fs)
NM_000152.5(GAA):c.1575dup (p.Ile526fs) rs2143874398
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs) rs1291214871
NM_000152.5(GAA):c.1579del (p.Arg527fs) rs2039222879
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro) rs1598582021
NM_000152.5(GAA):c.1587del (p.Glu530fs)
NM_000152.5(GAA):c.1589del (p.Glu530fs)
NM_000152.5(GAA):c.1637-2A>G rs2143882034
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg)
NM_000152.5(GAA):c.1650del (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1651_1656del (p.Thr551_Leu552del)
NM_000152.5(GAA):c.1654del (p.Leu552fs) rs2039246615
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) rs1221156663
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1674_1675del (p.Ala559fs) rs2143882664
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.1692del (p.Leu565fs) rs1555601234
NM_000152.5(GAA):c.1694_1697del (p.Leu565fs)
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1703A>T (p.His568Leu) rs2143882997
NM_000152.5(GAA):c.1704dup (p.Tyr569fs) rs2143883054
NM_000152.5(GAA):c.1716C>G (p.His572Gln) rs772962666
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe) rs2143883845
NM_000152.5(GAA):c.1754+2T>A
NM_000152.5(GAA):c.1754+2T>C
NM_000152.5(GAA):c.1755-1G>A rs2039261208
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs) rs2039261436
NM_000152.5(GAA):c.1781G>A (p.Arg594His) rs775450536
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter) rs374470794
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1809del (p.Phe603fs) rs2143888280
NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter)
NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter)
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu) rs1243515778
NM_000152.5(GAA):c.1844G>T (p.Gly615Val) rs1243515778
NM_000152.5(GAA):c.1846G>A (p.Asp616Asn) rs796161389
NM_000152.5(GAA):c.1846dup (p.Asp616fs) rs1249187013
NM_000152.5(GAA):c.1847dup (p.Asp616fs) rs1475559733
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)
NM_000152.5(GAA):c.1855A>C (p.Ser619Arg)
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1913G>T (p.Gly638Val) rs1294428728
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs) rs748829376
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1937del (p.Val646fs)
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) rs776948121
NM_000152.5(GAA):c.1950_1952delinsT (p.Gly651fs)
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1975_2000dup (p.Phe667fs)
NM_000152.5(GAA):c.1976_1977del (p.Val659fs) rs2143892473
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter) rs2143892654
NM_000152.5(GAA):c.1987del (p.Gln663fs) rs2143892615
NM_000152.5(GAA):c.199del (p.Asp67fs) rs2143825870
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.1A>T (p.Met1Leu) rs786204467
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2004C>A (p.Tyr668Ter)
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del) rs786204621
NM_000152.5(GAA):c.2040+1G>C rs1057516928
NM_000152.5(GAA):c.2040+2T>G
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs) rs398123171
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter) rs2039287628
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer) rs2039287852
NM_000152.5(GAA):c.2095dup (p.Leu699fs) rs2143895928
NM_000152.5(GAA):c.2096T>C (p.Leu699Pro)
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) rs398123172
NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter) rs150728610
NM_000152.5(GAA):c.2109C>G (p.Tyr703Ter)
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter) rs1275298143
NM_000152.5(GAA):c.2167G>A (p.Val723Met) rs767247397
NM_000152.5(GAA):c.2173del (p.Arg725fs) rs2039292320
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter) rs1555601828
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) rs1057516327
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2219_2220del (p.Val740fs) rs2039364779
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2238G>T (p.Trp746Cys)
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter) rs760063214
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2313_2322del (p.Trp772fs) rs2143920189
NM_000152.5(GAA):c.2314del (p.Trp772fs)
NM_000152.5(GAA):c.2320dup (p.Asp774fs)
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.236_246del (p.Pro79fs) rs1057517165
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2399G>T (p.Ser800Ile)
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs) rs763048948
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.242del (p.Gln81fs)
NM_000152.5(GAA):c.2431dup (p.Leu811fs) rs2143925402
NM_000152.5(GAA):c.2432del (p.Leu811fs) rs766560578
NM_000152.5(GAA):c.246C>A (p.Cys82Ter) rs749584846
NM_000152.5(GAA):c.2470_2471del (p.Ile824fs) rs2143926009
NM_000152.5(GAA):c.2481+110_2646+39del rs1598592604
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs) rs1057516704
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2502dup (p.Glu835fs)
NM_000152.5(GAA):c.2554G>T (p.Glu852Ter)
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter)
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter)
NM_000152.5(GAA):c.2623C>T (p.Gln875Ter) rs2143930800
NM_000152.5(GAA):c.2646+1G>A rs2143931061
NM_000152.5(GAA):c.2646+2T>A rs786204561
NM_000152.5(GAA):c.2646+2T>G
NM_000152.5(GAA):c.2675_2676dup (p.Thr893Ter)
NM_000152.5(GAA):c.2702dup (p.Gln902fs)
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) rs1057516341
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs) rs1057516189
NM_000152.5(GAA):c.2707_2709del (p.Lys903del) rs121907939
NM_000152.5(GAA):c.2734del (p.Ala912fs)
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) rs1555603264
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs)
NM_000152.5(GAA):c.2743C>T (p.Gln915Ter)
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.282del (p.Asp95fs) rs2143826963
NM_000152.5(GAA):c.304C>T (p.Gln102Ter) rs1432841878
NM_000152.5(GAA):c.309C>A (p.Cys103Ter) rs373307393
NM_000152.5(GAA):c.309C>G (p.Cys103Trp) rs373307393
NM_000152.5(GAA):c.322T>A (p.Cys108Ser) rs2039038743
NM_000152.5(GAA):c.340_341insT (p.Lys114fs) rs2143827701
NM_000152.5(GAA):c.342del (p.Lys114fs) rs1555598796
NM_000152.5(GAA):c.355G>T (p.Gly119Ter) rs1555598802
NM_000152.5(GAA):c.361C>T (p.Gln121Ter) rs750668627
NM_000152.5(GAA):c.377G>A (p.Trp126Ter) rs1011631903
NM_000152.5(GAA):c.378G>A (p.Trp126Ter) rs2039041225
NM_000152.5(GAA):c.379_380del (p.Cys127fs) rs1207988953
NM_000152.5(GAA):c.3G>A (p.Met1Ile) rs1187796945
NM_000152.5(GAA):c.424_440del (p.Ser142fs)
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869
NM_000152.5(GAA):c.444C>G (p.Tyr148Ter) rs886043112
NM_000152.5(GAA):c.456_457dup (p.Thr153fs) rs2143829023
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.482_483del (p.Pro161fs) rs764750389
NM_000152.5(GAA):c.520_526del (p.Glu174fs)
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.528_529del (p.Asn177fs) rs2143829649
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>T (p.Thr182=) rs143523371
NM_000152.5(GAA):c.547-1G>C rs2143833579
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.584T>A (p.Leu195Ter)
NM_000152.5(GAA):c.587del (p.Glu196fs)
NM_000152.5(GAA):c.639del (p.Ser214fs) rs2143834462
NM_000152.5(GAA):c.643G>T (p.Glu215Ter) rs201286896
NM_000152.5(GAA):c.658dup (p.Val220fs) rs2143834640
NM_000152.5(GAA):c.683dup (p.Arg229fs) rs2143834983
NM_000152.5(GAA):c.692+1G>C rs773281453
NM_000152.5(GAA):c.692+1G>T
NM_000152.5(GAA):c.692+2T>C rs1555599171
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.722_723del (p.Phe241fs) rs2039116471
NM_000152.5(GAA):c.727_728insCCACCAGGACA (p.Asp243fs)
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.739C>T (p.Gln247Ter)
NM_000152.5(GAA):c.759del (p.Ser254fs) rs2039117815
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.768dup (p.Ile257fs) rs1555599644
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs) rs2039120342
NM_000152.5(GAA):c.806_830del (p.Leu269fs) rs1598575231
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.856del (p.Thr286fs)
NM_000152.5(GAA):c.889_890insG (p.Phe297fs)
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) rs121907940
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.923A>C (p.His308Pro) rs2143849751
NM_000152.5(GAA):c.930del (p.Phe311fs)
NM_000152.5(GAA):c.955+1G>A rs1403691329
NM_000152.5(GAA):c.967C>T (p.Gln323Ter)
NM_000152.5(GAA):c.988_998del (p.Trp330fs)
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000154.2(GALK1):c.1012dup (p.Val338fs) rs1555747776
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs) rs771067891
NM_000154.2(GALK1):c.1055_1056del (p.Thr352fs)
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs) rs2061563475
NM_000154.2(GALK1):c.1105C>T (p.Gln369Ter)
NM_000154.2(GALK1):c.1107+1G>A rs2143585254
NM_000154.2(GALK1):c.162dup (p.Met55fs) rs2143608028
NM_000154.2(GALK1):c.1A>G (p.Met1Val)
NM_000154.2(GALK1):c.1A>T (p.Met1Leu)
NM_000154.2(GALK1):c.202dup (p.Arg68fs)
NM_000154.2(GALK1):c.206dup (p.Asp70fs)
NM_000154.2(GALK1):c.238G>T (p.Glu80Ter) rs104894577
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter) rs2143605190
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter) rs2061599016
NM_000154.2(GALK1):c.327dup (p.Val110fs)
NM_000154.2(GALK1):c.364del (p.Leu122fs) rs2061596711
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.416T>C (p.Leu139Pro)
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter) rs775843885
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter) rs767799179
NM_000154.2(GALK1):c.530del (p.Phe177fs) rs2061594762
NM_000154.2(GALK1):c.609dup (p.Arg204fs)
NM_000154.2(GALK1):c.67G>T (p.Glu23Ter) rs2143608501
NM_000154.2(GALK1):c.6del (p.Ala3fs) rs2143608720
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
NM_000154.2(GALK1):c.710del (p.Pro237fs) rs773559496
NM_000154.2(GALK1):c.768_769dup (p.Glu257fs) rs2143601360
NM_000154.2(GALK1):c.781del (p.Glu261fs)
NM_000154.2(GALK1):c.793+2T>C
NM_000154.2(GALK1):c.793+2T>G
NM_000154.2(GALK1):c.837_841dup (p.Val281fs)
NM_000154.2(GALK1):c.83_84dup (p.Glu29fs)
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.860_881del (p.Arg287fs)
NM_000154.2(GALK1):c.868C>T (p.Gln290Ter)
NM_000154.2(GALK1):c.900_902del (p.Tyr300_Arg301delinsTer)
NM_000154.2(GALK1):c.953_954del (p.Asp317_Tyr318insTer)
NM_000154.2(GALK1):c.954T>A (p.Tyr318Ter)
NM_000154.2(GALK1):c.98C>G (p.Ser33Ter)
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.1001A>G (p.Lys334Arg) rs111033809
NM_000155.4(GALT):c.1006A>G (p.Met336Val) rs111033810
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1030C>T (p.Gln344Ter) rs111033814
NM_000155.4(GALT):c.1048del (p.Thr350fs) rs775762045
NM_000155.4(GALT):c.1049C>T (p.Thr350Ile) rs775317639
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1054G>C (p.Glu352Gln)
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.113A>C (p.Gln38Pro) rs111033646
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys) rs111033827
NM_000155.4(GALT):c.152G>A (p.Arg51Gln) rs111033648
NM_000155.4(GALT):c.152G>T (p.Arg51Leu) rs111033648
NM_000155.4(GALT):c.18del (p.Asp7fs) rs111033638
NM_000155.4(GALT):c.1A>C (p.Met1Leu)
NM_000155.4(GALT):c.1A>G (p.Met1Val) rs111033639
NM_000155.4(GALT):c.200del (p.Arg67fs) rs2132341744
NM_000155.4(GALT):c.213dup (p.Asn72fs)
NM_000155.4(GALT):c.252+2T>G
NM_000155.4(GALT):c.260C>G (p.Pro87Arg)
NM_000155.4(GALT):c.262dup (p.Gln88fs)
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) rs111033669
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.327del (p.Gly110fs) rs2132342518
NM_000155.4(GALT):c.359del (p.Lys120fs) rs1821141007
NM_000155.4(GALT):c.367C>T (p.Arg123Ter) rs111033674
NM_000155.4(GALT):c.368G>A (p.Arg123Gln) rs111033675
NM_000155.4(GALT):c.377+1G>A
NM_000155.4(GALT):c.377+1G>T rs111033681
NM_000155.4(GALT):c.382G>A (p.Val128Ile)
NM_000155.4(GALT):c.384_388del (p.Met129fs) rs2132343017
NM_000155.4(GALT):c.400del (p.Trp134fs) rs111033689
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.4(GALT):c.40_41insT (p.Ala14fs) rs1821111380
NM_000155.4(GALT):c.424A>G (p.Met142Val) rs111033692
NM_000155.4(GALT):c.425T>C (p.Met142Thr) rs111033695
NM_000155.4(GALT):c.428C>G (p.Ser143Trp) rs111033697
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.439A>G (p.Ile147Val)
NM_000155.4(GALT):c.460T>C (p.Trp154Arg) rs111033702
NM_000155.4(GALT):c.462G>A (p.Trp154Ter) rs111033704
NM_000155.4(GALT):c.465_474dup (p.Glu159fs)
NM_000155.4(GALT):c.501G>A (p.Trp167Ter)
NM_000155.4(GALT):c.502G>A (p.Val168Met) rs367543258
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.508-2_509del rs2132343638
NM_000155.4(GALT):c.513del (p.Phe171fs) rs886044409
NM_000155.4(GALT):c.530T>C (p.Met177Thr) rs2132343692
NM_000155.4(GALT):c.550del (p.His184fs)
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.553C>T (p.Pro185Ser) rs111033826
NM_000155.4(GALT):c.558C>G (p.His186Gln) rs886042097
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.576_589del (p.Ser192fs) rs1198705438
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser) rs111033744
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter) rs1057516720
NM_000155.4(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.4(GALT):c.649_653dup (p.Met219fs)
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.665G>A (p.Ser222Asn)
NM_000155.4(GALT):c.667C>A (p.Arg223Ser) rs111033750
NM_000155.4(GALT):c.684del (p.Lys229fs) rs2132344399
NM_000155.4(GALT):c.717G>T (p.Trp239Cys)
NM_000155.4(GALT):c.719_728del (p.Leu240fs) rs111033838
NM_000155.4(GALT):c.737G>A (p.Trp246Ter) rs1821176206
NM_000155.4(GALT):c.747G>A (p.Trp249Ter) rs111033758
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.796G>T (p.Glu266Ter) rs1821178833
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.813G>C (p.Glu271Asp)
NM_000155.4(GALT):c.814del (p.Arg272fs) rs2132345163
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.82+2T>G
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.894G>A (p.Met298Ile) rs1821187550
NM_000155.4(GALT):c.899G>A (p.Trp300Ter) rs1064794295
NM_000155.4(GALT):c.904+1G>A rs367543271
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.912dup (p.Thr305fs) rs746285782
NM_000155.4(GALT):c.949C>T (p.Gln317Ter)
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.957C>G (p.His319Gln) rs111033792
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000158.4(GBE1):c.1031G>A (p.Trp344Ter) rs773381709
NM_000158.4(GBE1):c.1032G>A (p.Trp344Ter) rs2106957076
NM_000158.4(GBE1):c.1034G>A (p.Trp345Ter)
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
NM_000158.4(GBE1):c.1098_1099insGTGA (p.His367fs)
NM_000158.4(GBE1):c.1115del (p.Gly372fs)
NM_000158.4(GBE1):c.1126_1127insCGGGAGAAGTAGATTGAAGCCAGTTGATTAGGGTGCTTAGC (p.Asp376delinsAlaGlyGluValAspTer)
NM_000158.4(GBE1):c.1169del (p.Ala389_Leu390insTer)
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs) rs1703800818
NM_000158.4(GBE1):c.1281del (p.Gly429fs)
NM_000158.4(GBE1):c.1333C>T (p.Gln445Ter) rs1703799803
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1343_1344del (p.Lys448fs) rs2106938660
NM_000158.4(GBE1):c.136C>T (p.Gln46Ter)
NM_000158.4(GBE1):c.1373del (p.Gly458fs)
NM_000158.4(GBE1):c.1379del (p.Ile460fs)
NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter) rs1703726090
NM_000158.4(GBE1):c.1403del (p.Arg468fs) rs2106938514
NM_000158.4(GBE1):c.143+1G>A rs397515343
NM_000158.4(GBE1):c.143+2T>C rs2107250439
NM_000158.4(GBE1):c.144-1G>C
NM_000158.4(GBE1):c.1479G>A (p.Trp493Ter) rs1703673227
NM_000158.4(GBE1):c.149del (p.Lys50fs) rs2107169014
NM_000158.4(GBE1):c.1538_1563del (p.Ile513fs)
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter) rs773775991
NM_000158.4(GBE1):c.1569del (p.Arg524fs)
NM_000158.4(GBE1):c.1605T>A (p.Tyr535Ter)
NM_000158.4(GBE1):c.1675_1676dup (p.Ser559fs) rs1412857849
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
NM_000158.4(GBE1):c.1680C>G (p.Tyr560Ter)
NM_000158.4(GBE1):c.169A>T (p.Lys57Ter)
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer) rs1367364158
NM_000158.4(GBE1):c.172_173del (p.Asn58fs)
NM_000158.4(GBE1):c.1743del (p.Asn581fs)
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter) rs201029706
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter) rs772802187
NM_000158.4(GBE1):c.1854del (p.Ala619fs)
NM_000158.4(GBE1):c.1861_1875CTT[2]TTCATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTTTTCATTTTC[1] (p.Asn626delinsPhePhePhePhePhePheXaaXaaXaaXaaCysTer) rs2106869587
NM_000158.4(GBE1):c.1961_1962del (p.Ala654fs) rs2106809957
NM_000158.4(GBE1):c.2011del (p.Ser671fs)
NM_000158.4(GBE1):c.202_203del (p.Lys68fs) rs1705761854
NM_000158.4(GBE1):c.216del (p.Tyr73fs) rs2107168870
NM_000158.4(GBE1):c.26del (p.Ala9fs)
NM_000158.4(GBE1):c.274del (p.Ala92fs)
NM_000158.4(GBE1):c.288del (p.Gly97fs) rs1057517315
NM_000158.4(GBE1):c.317del (p.Gly106fs) rs2107114812
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter) rs2107114808
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter) rs773473771
NM_000158.4(GBE1):c.348dup (p.Leu117fs)
NM_000158.4(GBE1):c.34G>T (p.Glu12Ter)
NM_000158.4(GBE1):c.367G>T (p.Glu123Ter)
NM_000158.4(GBE1):c.43G>T (p.Glu15Ter) rs774709930
NM_000158.4(GBE1):c.466_470del (p.Arg156fs) rs2107074878
NM_000158.4(GBE1):c.47del (p.Ala16fs) rs2107250805
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter) rs776943352
NM_000158.4(GBE1):c.505del (p.Asp169fs) rs1370223073
NM_000158.4(GBE1):c.608_609del (p.His203fs)
NM_000158.4(GBE1):c.646dup (p.Tyr216fs)
NM_000158.4(GBE1):c.648T>A (p.Tyr216Ter)
NM_000158.4(GBE1):c.691+1G>A
NM_000158.4(GBE1):c.691+1G>T
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu) rs754525424
NM_000158.4(GBE1):c.810_811delinsTT (p.Gln270_Glu271delinsHisTer) rs2107059792
NM_000158.4(GBE1):c.811G>T (p.Glu271Ter)
NM_000158.4(GBE1):c.909_912del (p.Phe303fs) rs2107059544
NM_000158.4(GBE1):c.966G>A (p.Trp322Ter) rs1559673456
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000181.4(GUSB):c.1047del (p.Asn349fs)
NM_000181.4(GUSB):c.11_12del (p.Gly4fs)
NM_000181.4(GUSB):c.1455dup (p.Asn486Ter)
NM_000181.4(GUSB):c.1457_1460del (p.Asn486fs)
NM_000181.4(GUSB):c.1756dup (p.Ile586fs)
NM_000181.4(GUSB):c.1798dup (p.Arg600fs)
NM_000181.4(GUSB):c.1809dup (p.Asn604fs)
NM_000181.4(GUSB):c.1865T>A (p.Leu622Ter)
NM_000181.4(GUSB):c.1872_1875del (p.Glu624fs)
NM_000181.4(GUSB):c.1872_1875dup (p.Tyr626fs)
NM_000181.4(GUSB):c.1874_1875del (p.Arg625fs) rs935464108
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter) rs1236992554
NM_000181.4(GUSB):c.190del (p.Tyr64fs)
NM_000181.4(GUSB):c.24del (p.Trp9fs)
NM_000181.4(GUSB):c.320del (p.Leu107fs)
NM_000181.4(GUSB):c.325G>T (p.Glu109Ter)
NM_000181.4(GUSB):c.434del (p.Gly145fs)
NM_000181.4(GUSB):c.499C>T (p.Arg167Ter)
NM_000181.4(GUSB):c.507dup (p.Ile170fs)
NM_000181.4(GUSB):c.527_530del (p.Leu176fs)
NM_000181.4(GUSB):c.604C>T (p.Gln202Ter)
NM_000181.4(GUSB):c.643C>T (p.Gln215Ter)
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter)
NM_000181.4(GUSB):c.739C>T (p.Gln247Ter)
NM_000181.4(GUSB):c.74dup (p.Gly26fs)
NM_000181.4(GUSB):c.76_79dup (p.Met27fs)
NM_000181.4(GUSB):c.867_871del (p.Trp289_Tyr291delinsTer)
NM_000181.4(GUSB):c.916C>T (p.Gln306Ter)
NM_000181.4(GUSB):c.91C>T (p.Gln31Ter)
NM_000181.4(GUSB):c.932dup (p.Ser312fs)
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs) rs1567915763
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000199.5(SGSH):c.1131del (p.Ser378fs)
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000199.5(SGSH):c.1153del (p.Arg385fs) rs2041615714
NM_000199.5(SGSH):c.120C>G (p.Tyr40Ter)
NM_000199.5(SGSH):c.1241_1242dup (p.Thr415fs) rs1484648912
NM_000199.5(SGSH):c.1260del (p.Thr421fs)
NM_000199.5(SGSH):c.1265dup (p.Trp423fs)
NM_000199.5(SGSH):c.1268G>A (p.Trp423Ter)
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1276del (p.Asp426fs)
NM_000199.5(SGSH):c.1286del (p.His429fs)
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter) rs1555620141
NM_000199.5(SGSH):c.1336del (p.His446fs)
NM_000199.5(SGSH):c.1345C>T (p.Gln449Ter)
NM_000199.5(SGSH):c.1345del (p.Gln449fs) rs1466245913
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter) rs1567914459
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter) rs2144689256
NM_000199.5(SGSH):c.1417del (p.Trp473fs)
NM_000199.5(SGSH):c.1418G>A (p.Trp473Ter)
NM_000199.5(SGSH):c.1426del (p.His476fs) rs2041597805
NM_000199.5(SGSH):c.178_234del (p.Phe60_Leu78del)
NM_000199.5(SGSH):c.1A>C (p.Met1Leu) rs1250300189
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.250-289_463del rs2144748721
NM_000199.5(SGSH):c.265_269del (p.Tyr89fs) rs2041840084
NM_000199.5(SGSH):c.277C>T (p.Gln93Ter)
NM_000199.5(SGSH):c.282_283dup (p.Val95fs) rs2144754863
NM_000199.5(SGSH):c.2T>G (p.Met1Arg) rs1488660868
NM_000199.5(SGSH):c.301_303del (p.Phe101del)
NM_000199.5(SGSH):c.303C>A (p.Phe101Leu) rs150482611
NM_000199.5(SGSH):c.324dup (p.Leu109fs)
NM_000199.5(SGSH):c.364G>C (p.Gly122Arg)
NM_000199.5(SGSH):c.389_392del (p.Thr130fs)
NM_000199.5(SGSH):c.391del (p.Val131fs)
NM_000199.5(SGSH):c.398del (p.Pro133fs) rs2144749648
NM_000199.5(SGSH):c.402dup (p.Asp135Ter) rs1598749984
NM_000199.5(SGSH):c.418G>T (p.Glu140Ter) rs2144749282
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter) rs2041818115
NM_000199.5(SGSH):c.481A>T (p.Lys161Ter)
NM_000199.5(SGSH):c.48del (p.Leu17fs)
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter) rs1598749661
NM_000199.5(SGSH):c.496C>T (p.Gln166Ter)
NM_000199.5(SGSH):c.506+1G>A rs763063355
NM_000199.5(SGSH):c.544dup (p.Arg182fs)
NM_000199.5(SGSH):c.578_579delinsAA (p.Phe193Ter)
NM_000199.5(SGSH):c.598G>T (p.Gly200Ter)
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.630G>A (p.Trp210Ter) rs373031930
NM_000199.5(SGSH):c.637dup (p.Gln213fs) rs2144742329
NM_000199.5(SGSH):c.642del (p.Tyr215fs) rs2144742222
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)
NM_000199.5(SGSH):c.691_698del (p.Ala231fs)
NM_000199.5(SGSH):c.693_705del (p.Ala232fs) rs2041772144
NM_000199.5(SGSH):c.714del (p.Gln239fs)
NM_000199.5(SGSH):c.745+1G>C rs748525651
NM_000199.5(SGSH):c.757del (p.Val253fs) rs760281672
NM_000199.5(SGSH):c.790_794delinsGCCAGAAGCGGGGGGAGGGGGGGGGTTTGGTGGAAATTTTTTGTTATGATGTCTGTGTGGAAAGCGGCTGTGCAGACATTCAATTGTTATTATTATGTCCTACAAGCATTAATTAATTAACACACTTTAGTAGGTATGTTCGCCTGTAATATTGAACGTAGGTGCGATAAATAATAGGATGAGGCAGGAATCAAAGACAGATACTGCGACATAGGGTGCTCCGG (p.Asn264_Asp265delinsAlaArgSerGlyGlyArgGlyGlyValTrpTrpLysPhePheValMetMetSerValTrpLysAlaAlaValGlnThrPheAsnCysTyrTyrTyrValLeuGlnAlaLeuIleAsnTer)
NM_000199.5(SGSH):c.794_795insAGGTGCGATAAATAATAGGATGAGGCAGGAATCAAAGACAGATACTGCGACATAGGGTGCTCCGG (p.Asp265delinsGluGlyAlaIleAsnAsnArgMetArgGlnGluSerLysThrAspThrAlaThrTer)
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg) rs765361603
NM_000199.5(SGSH):c.833_834del (p.Phe278fs)
NM_000199.5(SGSH):c.909del (p.Lys303fs) rs775136193
NM_000199.5(SGSH):c.915G>A (p.Trp305Ter)
NM_000199.5(SGSH):c.949+1G>A
NM_000202.8(IDS):c.1004A>G (p.His335Arg)
NM_000202.8(IDS):c.1006+1G>C
NM_000202.8(IDS):c.1007-1G>A
NM_000202.8(IDS):c.1019G>A (p.Gly340Asp)
NM_000202.8(IDS):c.104-2A>G rs2089505773
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter) rs1557338127
NM_000202.8(IDS):c.1115del (p.Glu372fs) rs2124005776
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1123G>T (p.Glu375Ter) rs782634993
NM_000202.8(IDS):c.1165C>T (p.Gln389Ter)
NM_000202.8(IDS):c.1181-1G>A rs864622777
NM_000202.8(IDS):c.1188del (p.Gln396fs)
NM_000202.8(IDS):c.1216_1217del (p.Leu406fs) rs2123995091
NM_000202.8(IDS):c.1224dup (p.Thr409fs) rs2123995054
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) rs864622772
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1402del (p.Arg468fs) rs2123994397
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.1445T>G (p.Leu482Ter)
NM_000202.8(IDS):c.1454_1455del (p.Ile485fs) rs2089305017
NM_000202.8(IDS):c.1470T>A (p.Tyr490Ter)
NM_000202.8(IDS):c.1506G>A (p.Trp502Ter)
NM_000202.8(IDS):c.1508T>A (p.Val503Asp) rs398123248
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys) rs2124648301
NM_000202.8(IDS):c.1561dup (p.Glu521fs) rs2124648304
NM_000202.8(IDS):c.1589dup (p.Leu530fs) rs2124648266
NM_000202.8(IDS):c.172del (p.Leu58fs)
NM_000202.8(IDS):c.212G>A (p.Ser71Asn) rs113993954
NM_000202.8(IDS):c.22C>T (p.Arg8Ter) rs1602750610
NM_000202.8(IDS):c.230C>A (p.Ala77Asp)
NM_000202.8(IDS):c.238C>T (p.Gln80Ter) rs1569560527
NM_000202.8(IDS):c.239A>G (p.Gln80Arg)
NM_000202.8(IDS):c.240+2T>C
NM_000202.8(IDS):c.241-2A>G
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.257C>G (p.Pro86Arg) rs1557340280
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.2T>C (p.Met1Thr) rs2124069617
NM_000202.8(IDS):c.309C>G (p.Tyr103Ter) rs1174495581
NM_000202.8(IDS):c.30dup (p.Leu11fs)
NM_000202.8(IDS):c.361C>T (p.Gln121Ter) rs2124063075
NM_000202.8(IDS):c.36G>A (p.Trp12Ter)
NM_000202.8(IDS):c.418+1G>C rs1602748255
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.458G>A (p.Trp153Ter) rs2124055460
NM_000202.8(IDS):c.507+1G>A rs2124055167
NM_000202.8(IDS):c.508-1G>A rs113993947
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.551G>T (p.Cys184Phe)
NM_000202.8(IDS):c.594_595del (p.Asp198fs) rs2124046923
NM_000202.8(IDS):c.596_599del (p.Lys199fs) rs2089451657
NM_000202.8(IDS):c.653_654del (p.Pro218fs) rs2089450982
NM_000202.8(IDS):c.686A>G (p.His229Arg)
NM_000202.8(IDS):c.692C>T (p.Pro231Leu) rs2089450305
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter) rs1569560489
NM_000202.8(IDS):c.708+1G>A rs864622778
NM_000202.8(IDS):c.708+1G>T rs864622778
NM_000202.8(IDS):c.782del (p.Pro261fs)
NM_000202.8(IDS):c.795C>A (p.Asn265Lys) rs1207417919
NM_000202.8(IDS):c.838_842del (p.Asn280fs) rs2089436271
NM_000202.8(IDS):c.880-2A>C
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs) rs1602750400
NM_000202.8(IDS):c.984del (p.Ile329fs) rs1602734459
NM_000202.8(IDS):c.998C>G (p.Ser333Trp) rs104894853
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) rs387906504
NM_000203.5(IDUA):c.-14_10del (p.Met1_Leu4del)
NM_000203.5(IDUA):c.-23_18del (p.Met1fs)
NM_000203.5(IDUA):c.1023_1026del (p.Pro342fs)
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1036del (p.Leu345_Leu346insTer) rs2153022341
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) rs121965033
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) rs746766617
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del) rs1230096882
NM_000203.5(IDUA):c.1047dup (p.Asn350fs) rs2153022358
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1077del (p.Phe360fs) rs2153022377
NM_000203.5(IDUA):c.1088_1089dup (p.Thr364fs) rs2153022390
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1099G>C (p.Ala367Pro)
NM_000203.5(IDUA):c.1108C>T (p.Gln370Ter) rs2153022415
NM_000203.5(IDUA):c.1137_1138dup (p.Gln380fs)
NM_000203.5(IDUA):c.1163del (p.Thr388fs) rs1577541504
NM_000203.5(IDUA):c.1167del (p.Met390fs) rs2153022443
NM_000203.5(IDUA):c.1190-10C>A rs1443642527
NM_000203.5(IDUA):c.1190-1del
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter) rs991612107
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter) rs1340421020
NM_000203.5(IDUA):c.1227dup (p.Thr410fs) rs1715179164
NM_000203.5(IDUA):c.123G>A (p.Trp41Ter)
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs) rs1445719596
NM_000203.5(IDUA):c.1306del (p.Ala436fs)
NM_000203.5(IDUA):c.1323C>A (p.Tyr441Ter)
NM_000203.5(IDUA):c.1323C>G (p.Tyr441Ter)
NM_000203.5(IDUA):c.1326_1330dup (p.Asp444fs)
NM_000203.5(IDUA):c.132del (p.Arg45fs) rs2153015244
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del) rs1715188461
NM_000203.5(IDUA):c.1395del (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1395dup (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1402+2T>G rs1553917428
NM_000203.5(IDUA):c.1403-1G>A
NM_000203.5(IDUA):c.141G>A (p.Trp47Ter) rs1713799895
NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter) rs1356329915
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu) rs1715210316
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs) rs2153022799
NM_000203.5(IDUA):c.1498C>T (p.Gln500Ter) rs1290558249
NM_000203.5(IDUA):c.1529dup (p.Val511fs)
NM_000203.5(IDUA):c.1546dup (p.Arg516fs) rs2153022895
NM_000203.5(IDUA):c.1561_1570del (p.Ala520_Gly521insTer) rs1715237631
NM_000203.5(IDUA):c.1587_1588dup (p.Leu530fs)
NM_000203.5(IDUA):c.159-19_160del rs398123255
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.159C>A (p.Cys53Ter) rs758190824
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
NM_000203.5(IDUA):c.1623T>A (p.Cys541Ter) rs2153022938
NM_000203.5(IDUA):c.1646_1647del (p.Gly549fs)
NM_000203.5(IDUA):c.1648C>T (p.Gln550Ter) rs2153022958
NM_000203.5(IDUA):c.164dup (p.Leu56fs) rs727503966
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter) rs752800292
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs) rs1220371654
NM_000203.5(IDUA):c.1708G>C (p.Asp570His) rs1553917627
NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer) rs1577508778
NM_000203.5(IDUA):c.1713del (p.Glu571fs)
NM_000203.5(IDUA):c.1727+1G>A rs1577544451
NM_000203.5(IDUA):c.1728-1G>A rs1249951282
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1737G>A (p.Trp579Ter)
NM_000203.5(IDUA):c.1750C>T (p.Gln584Ter) rs1715290919
NM_000203.5(IDUA):c.175del (p.Ser59fs)
NM_000203.5(IDUA):c.1766del (p.Gly589fs) rs1715293163
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter) rs1577508801
NM_000203.5(IDUA):c.1799C>A (p.Ser600Ter) rs867456178
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) rs398123258
NM_000203.5(IDUA):c.1815dup (p.Val606fs) rs2153023210
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter) rs746936485
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) rs121965031
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe) rs2153023278
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter) rs1456090810
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter) rs2153015621
NM_000203.5(IDUA):c.1882del (p.Arg628fs)
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter) rs886043347
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) rs121965022
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg) rs387906504
NM_000203.5(IDUA):c.19dup (p.Arg7fs)
NM_000203.5(IDUA):c.1A>C (p.Met1Leu) rs1553914737
NM_000203.5(IDUA):c.1A>G (p.Met1Val) rs1553914737
NM_000203.5(IDUA):c.203G>A (p.Trp68Ter)
NM_000203.5(IDUA):c.209del (p.Gln70fs) rs2153015644
NM_000203.5(IDUA):c.236C>T (p.Ala79Val) rs747981483
NM_000203.5(IDUA):c.242dup (p.His82fs) rs1713866822
NM_000203.5(IDUA):c.265C>G (p.Arg89Gly)
NM_000203.5(IDUA):c.299+1G>C rs398123259
NM_000203.5(IDUA):c.2T>C (p.Met1Thr) rs753767675
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.306del (p.Thr103fs) rs1461124319
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
NM_000203.5(IDUA):c.349del (p.Tyr117fs) rs2153021628
NM_000203.5(IDUA):c.367G>T (p.Glu123Ter)
NM_000203.5(IDUA):c.385+1G>C rs780615798
NM_000203.5(IDUA):c.386-1G>A rs2153021698
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.403del (p.Ser135fs) rs2153021702
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter) rs1389029860
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter) rs1715035049
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.47C>A (p.Ser16Ter) rs567921262
NM_000203.5(IDUA):c.493+1G>T
NM_000203.5(IDUA):c.504_510del (p.Leu169fs)
NM_000203.5(IDUA):c.523_534del (p.Trp175_Glu178del)
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter) rs776305028
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.570del (p.Asn190fs) rs1330366594
NM_000203.5(IDUA):c.576del (p.Ser192_Met193insTer)
NM_000203.5(IDUA):c.585dup (p.Gln196fs) rs2153021921
NM_000203.5(IDUA):c.586C>T (p.Gln196Ter)
NM_000203.5(IDUA):c.590-1G>A rs1715084294
NM_000203.5(IDUA):c.590-2A>G rs1252941339
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.607G>A (p.Asp203Asn) rs2153021976
NM_000203.5(IDUA):c.607_614dup (p.Cys205fs)
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.612_615del (p.Cys205fs) rs875989947
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000203.5(IDUA):c.614G>A (p.Cys205Tyr) rs1715086540
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter) rs1715086654
NM_000203.5(IDUA):c.630del (p.Ala211fs)
NM_000203.5(IDUA):c.642_646del (p.Leu216fs) rs2153022009
NM_000203.5(IDUA):c.722_723delinsAA (p.Cys241Ter)
NM_000203.5(IDUA):c.774C>A (p.Tyr258Ter)
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000203.5(IDUA):c.793-2A>G
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter) rs1553917192
NM_000203.5(IDUA):c.853del (p.Gln285fs) rs2153022188
NM_000203.5(IDUA):c.866del (p.Lys289fs)
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup) rs779762183
NM_000203.5(IDUA):c.882dup (p.Ile295fs) rs2153022202
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter) rs1715120049
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030
NM_000203.5(IDUA):c.901G>C (p.Asp301His)
NM_000203.5(IDUA):c.903C>G (p.Asp301Glu) rs759390416
NM_000203.5(IDUA):c.905del (p.Pro302fs) rs2153022225
NM_000203.5(IDUA):c.910del (p.Val304fs) rs2153022228
NM_000203.5(IDUA):c.911del (p.Val304fs) rs2153022229
NM_000203.5(IDUA):c.936G>A (p.Trp312Ter) rs1715123409
NM_000203.5(IDUA):c.954C>G (p.Tyr318Ter)
NM_000203.5(IDUA):c.956C>T (p.Ala319Val) rs781534097
NM_000203.5(IDUA):c.965del (p.Val322fs) rs2153022263
NM_000203.5(IDUA):c.972+1G>A rs794727840
NM_000203.5(IDUA):c.98_99insGGTGGACGGTGCA (p.His33fs)
NM_000262.3(NAGA):c.1029C>A (p.Cys343Ter)
NM_000262.3(NAGA):c.1047T>G (p.Tyr349Ter)
NM_000262.3(NAGA):c.157C>T (p.Gln53Ter)
NM_000262.3(NAGA):c.319_322dup (p.Tyr108Ter)
NM_000262.3(NAGA):c.324C>A (p.Tyr108Ter)
NM_000262.3(NAGA):c.324del (p.Asp107_Tyr108insTer)
NM_000262.3(NAGA):c.354del (p.Tyr119fs)
NM_000262.3(NAGA):c.402_403del (p.Leu135fs)
NM_000262.3(NAGA):c.606_607del (p.Tyr202_Ser203delinsTer)
NM_000262.3(NAGA):c.635G>A (p.Trp212Ter)
NM_000262.3(NAGA):c.639dup (p.Asn214Ter)
NM_000262.3(NAGA):c.655C>T (p.Gln219Ter)
NM_000262.3(NAGA):c.665G>A (p.Trp222Ter)
NM_000262.3(NAGA):c.666G>A (p.Trp222Ter)
NM_000262.3(NAGA):c.70C>T (p.Gln24Ter)
NM_000262.3(NAGA):c.756_757del (p.Met253fs)
NM_000262.3(NAGA):c.793C>T (p.Gln265Ter)
NM_000262.3(NAGA):c.839del (p.Leu280fs)
NM_000262.3(NAGA):c.874C>T (p.Gln292Ter)
NM_000262.3(NAGA):c.968_969del (p.Leu323fs)
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter) rs376090795
NM_000263.4(NAGLU):c.1022-2A>G
NM_000263.4(NAGLU):c.1025del (p.Asp342fs)
NM_000263.4(NAGLU):c.1041G>A (p.Trp347Ter)
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter)
NM_000263.4(NAGLU):c.1063del (p.Gln355fs) rs1180591588
NM_000263.4(NAGLU):c.1088_1089dup (p.Ala364fs)
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) rs1555622242
NM_000263.4(NAGLU):c.1163_1166dup (p.Val390fs) rs2092925958
NM_000263.4(NAGLU):c.1173dup (p.Thr392fs) rs2143108228
NM_000263.4(NAGLU):c.1177del (p.Arg393fs)
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363
NM_000263.4(NAGLU):c.1238del (p.Asn413fs)
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs) rs2092926507
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) rs114625063
NM_000263.4(NAGLU):c.1336del (p.Glu446fs) rs2143109467
NM_000263.4(NAGLU):c.1337A>G (p.Glu446Gly)
NM_000263.4(NAGLU):c.1348C>T (p.Gln450Ter)
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys) rs375103824
NM_000263.4(NAGLU):c.136del (p.Ala46fs) rs2143075902
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) rs1250949842
NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu) rs118204024
NM_000263.4(NAGLU):c.144C>A (p.Phe48Leu)
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu) rs104894599
NM_000263.4(NAGLU):c.1453dup (p.Val485fs) rs749338526
NM_000263.4(NAGLU):c.1460dup (p.His487fs) rs2143110493
NM_000263.4(NAGLU):c.147del (p.Val50fs)
NM_000263.4(NAGLU):c.1482G>A (p.Trp494Ter)
NM_000263.4(NAGLU):c.1498_1517del (p.Ser500fs)
NM_000263.4(NAGLU):c.1570C>T (p.Gln524Ter) rs2143111795
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter) rs762031686
NM_000263.4(NAGLU):c.1675G>T (p.Asp559Tyr)
NM_000263.4(NAGLU):c.1682T>G (p.Leu561Arg) rs2092928624
NM_000263.4(NAGLU):c.1690_1693del (p.Thr564fs)
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.1696C>T (p.Gln566Ter)
NM_000263.4(NAGLU):c.1773del (p.Leu591_Leu592insTer) rs2143113566
NM_000263.4(NAGLU):c.1815_1821dup (p.Glu608fs) rs2143113857
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) rs1555622488
NM_000263.4(NAGLU):c.1918C>T (p.Gln640Ter)
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.192del (p.Tyr65fs) rs2092906340
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu) rs527236038
NM_000263.4(NAGLU):c.1A>G (p.Met1Val) rs1325661354
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg) rs2092930339
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter) rs1195831432
NM_000263.4(NAGLU):c.2066del (p.Gly689fs)
NM_000263.4(NAGLU):c.2080C>T (p.Gln694Ter)
NM_000263.4(NAGLU):c.2099del (p.Asn700fs)
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup) rs1567890245
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs) rs1555621442
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs) rs1431589133
NM_000263.4(NAGLU):c.220dup (p.Arg74fs) rs1555621448
NM_000263.4(NAGLU):c.222_223del (p.Val75fs) rs2143076561
NM_000263.4(NAGLU):c.222_247del (p.Val75fs) rs1201516783
NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys)
NM_000263.4(NAGLU):c.237_244dup (p.Gly82fs)
NM_000263.4(NAGLU):c.252_265del (p.Ala86fs) rs2143076795
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr) rs1013345784
NM_000263.4(NAGLU):c.2T>G (p.Met1Arg)
NM_000263.4(NAGLU):c.308G>A (p.Trp103Ter) rs2092906864
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter) rs1567890328
NM_000263.4(NAGLU):c.317_323del (p.Ser106fs) rs2143077277
NM_000263.4(NAGLU):c.329dup (p.Pro111fs)
NM_000263.4(NAGLU):c.333_344del (p.Arg112_Pro115del)
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) rs758785463
NM_000263.4(NAGLU):c.34dup (p.Val12fs)
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter) rs796052123
NM_000263.4(NAGLU):c.387C>G (p.Tyr129Ter) rs1453761645
NM_000263.4(NAGLU):c.3G>A (p.Met1Ile) rs2143074939
NM_000263.4(NAGLU):c.408C>A (p.Cys136Ter)
NM_000263.4(NAGLU):c.441G>A (p.Trp147Ter) rs2143082104
NM_000263.4(NAGLU):c.446del (p.Arg149fs)
NM_000263.4(NAGLU):c.449G>A (p.Trp150Ter)
NM_000263.4(NAGLU):c.454C>T (p.Arg152Ter) rs1261241939
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys) rs1352416909
NM_000263.4(NAGLU):c.457G>T (p.Glu153Ter)
NM_000263.4(NAGLU):c.480del (p.Asn160fs) rs886039894
NM_000263.4(NAGLU):c.490del (p.Leu164fs)
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs) rs2092905845
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter) rs1555621397
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter) rs398123281
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000263.4(NAGLU):c.525G>A (p.Trp175Ter) rs2143082538
NM_000263.4(NAGLU):c.54_60dup (p.Ala21fs) rs2143075344
NM_000263.4(NAGLU):c.595del (p.Leu199fs)
NM_000263.4(NAGLU):c.59dup (p.Ala21fs) rs1253870232
NM_000263.4(NAGLU):c.603G>A (p.Trp201Ter) rs2143086665
NM_000263.4(NAGLU):c.623_626dup (p.Trp210fs) rs2143086826
NM_000263.4(NAGLU):c.640dup (p.Leu214fs) rs2143086910
NM_000263.4(NAGLU):c.641del (p.Leu214fs)
NM_000263.4(NAGLU):c.642dup (p.Pro215fs) rs2092912932
NM_000263.4(NAGLU):c.648del (p.Ser217fs) rs760370189
NM_000263.4(NAGLU):c.648dup (p.Ser217fs) rs760370189
NM_000263.4(NAGLU):c.654G>A (p.Trp218Ter)
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000263.4(NAGLU):c.710_714dup (p.Thr239delinsAlaTer)
NM_000263.4(NAGLU):c.713del (p.Met238fs) rs2143088088
NM_000263.4(NAGLU):c.71_87del (p.Asp24fs) rs2143075470
NM_000263.4(NAGLU):c.736_748dup (p.Pro250fs)
NM_000263.4(NAGLU):c.741del (p.His248fs)
NM_000263.4(NAGLU):c.820del (p.Ser274fs) rs1452185692
NM_000263.4(NAGLU):c.82dup (p.Glu28fs)
NM_000263.4(NAGLU):c.886del (p.Leu296fs) rs752131463
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs) rs2092920511
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys) rs1305299665
NM_000263.4(NAGLU):c.953_957del (p.Gln318fs) rs2143099555
NM_000263.4(NAGLU):c.956C>T (p.Pro319Leu)
NM_000263.4(NAGLU):c.998_1014del (p.Ala333fs)
NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs) rs1555935473
NM_000284.4(PDHA1):c.1043_1053del (p.Asp348fs)
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter)
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter) rs863224156
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.292-1G>A rs863224149
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) rs863224150
NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu)
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr) rs1569191372
NM_000284.4(PDHA1):c.58-1G>A rs1569189834
NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu)
NM_000284.4(PDHA1):c.653G>A (p.Cys218Tyr)
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile) rs2063189233
NM_000284.4(PDHA1):c.688_700del (p.Gly230fs)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.4(PDHA1):c.788G>A (p.Arg263Gln)
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys) rs2063213272
NM_000284.4(PDHA1):c.874_881dup (p.Met294fs) rs2063213396
NM_000284.4(PDHA1):c.902_907del (p.Tyr301_Thr303delinsSer) rs2147187199
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.905G>A (p.Arg302His) rs1064794149
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del) rs1555935223
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer) rs1602231539
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs) rs137853251
NM_000284.4(PDHA1):c.956_959dup (p.Lys321fs)
NM_000289.6(PFKM):c.103dup (p.Arg35fs)
NM_000289.6(PFKM):c.1053del (p.Cys351fs)
NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter)
NM_000289.6(PFKM):c.1091del (p.Glu364fs)
NM_000289.6(PFKM):c.1159del (p.Leu387fs)
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
NM_000289.6(PFKM):c.1338del (p.Gln447fs) rs2135995131
NM_000289.6(PFKM):c.1344_1345insAA (p.Glu449fs)
NM_000289.6(PFKM):c.1413-64A>G rs1202417178
NM_000289.6(PFKM):c.1426A>T (p.Lys476Ter)
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer) rs866260025
NM_000289.6(PFKM):c.1656del (p.Cys553fs)
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter) rs2135856711
NM_000289.6(PFKM):c.1704del (p.Phe568fs) rs2136019667
NM_000289.6(PFKM):c.1761del (p.Ala588fs) rs2136020407
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.1827del (p.Glu610fs)
NM_000289.6(PFKM):c.1828_1834del (p.Glu610fs)
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer) rs1592818641
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2075_2076del (p.Lys692fs) rs2136049056
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs) rs1233958453
NM_000289.6(PFKM):c.21dup (p.Ala8fs)
NM_000289.6(PFKM):c.237+1G>C rs202143236
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.290del (p.Gly97fs)
NM_000289.6(PFKM):c.381_385dup (p.Arg129fs) rs2135886253
NM_000289.6(PFKM):c.589C>T (p.Gln197Ter)
NM_000289.6(PFKM):c.646dup (p.Ala216fs) rs2135915377
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter) rs866904446
NM_000289.6(PFKM):c.74del (p.Gly25fs) rs2137862074
NM_000289.6(PFKM):c.780_783del (p.Ile260fs)
NM_000289.6(PFKM):c.874del (p.Arg292fs) rs1369841345
NM_000290.4(PGAM2):c.160del (p.Ile54fs)
NM_000290.4(PGAM2):c.173C>G (p.Ser58Ter)
NM_000290.4(PGAM2):c.234G>A (p.Trp78Ter)
NM_000290.4(PGAM2):c.533del (p.Gly178fs) rs747947171
NM_000290.4(PGAM2):c.538C>T (p.Arg180Ter)
NM_000292.3(PHKA2):c.-9_2del (p.Met1fs) rs1569344469
NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter) rs1556007472
NM_000292.3(PHKA2):c.1174C>T (p.Arg392Ter)
NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter) rs2048317403
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000292.3(PHKA2):c.1420C>T (p.Gln474Ter)
NM_000292.3(PHKA2):c.1502del (p.His501fs)
NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter) rs1601739229
NM_000292.3(PHKA2):c.1794-8_1812del rs1556000892
NM_000292.3(PHKA2):c.1A>G (p.Met1Val) rs2148058081
NM_000292.3(PHKA2):c.2209C>T (p.Gln737Ter) rs1569300538
NM_000292.3(PHKA2):c.2378_2379del (p.Thr793fs) rs2147859879
NM_000292.3(PHKA2):c.2465del (p.Leu822fs) rs1569298646
NM_000292.3(PHKA2):c.2509_2510insATGTATAAATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTATATTATAATAAAAAAAAAAAAAAAAAAATAACAATAAAATGAGATAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGAGGTCC (p.Leu837delinsHisValTer) rs2147859144
NM_000292.3(PHKA2):c.2614G>T (p.Glu872Ter) rs2147855177
NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs) rs1569297379
NM_000292.3(PHKA2):c.2783_2793del (p.Leu928fs)
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000292.3(PHKA2):c.3325del (p.Thr1109fs) rs2147806873
NM_000292.3(PHKA2):c.3329_3336+6del
NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter) rs1601689006
NM_000292.3(PHKA2):c.3371_3377dup (p.Val1127fs) rs2047492720
NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter) rs2047492649
NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs) rs2047490848
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000292.3(PHKA2):c.584del (p.Pro195fs)
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) rs797045008
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000292.3(PHKA2):c.918+1G>A rs1601760689
NM_000292.3(PHKA2):c.93del (p.Leu32fs) rs2048744617
NM_000293.3(PHKB):c.1045_1049dup (p.Lys351fs)
NM_000293.3(PHKB):c.1089T>A (p.Cys363Ter)
NM_000293.3(PHKB):c.1162_1166dup (p.Gln389fs)
NM_000293.3(PHKB):c.1230T>G (p.Tyr410Ter)
NM_000293.3(PHKB):c.1257T>G (p.Tyr419Ter)
NM_000293.3(PHKB):c.1265del (p.Asn422fs)
NM_000293.3(PHKB):c.1265dup (p.Asn422fs)
NM_000293.3(PHKB):c.126del (p.Asn42fs)
NM_000293.3(PHKB):c.127G>T (p.Glu43Ter)
NM_000293.3(PHKB):c.1320del (p.Leu442fs)
NM_000293.3(PHKB):c.1331del (p.Gly444fs)
NM_000293.3(PHKB):c.1622dup (p.Ile543fs)
NM_000293.3(PHKB):c.1805_1808dup (p.Gln603fs)
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000293.3(PHKB):c.1972-2A>G rs964263812
NM_000293.3(PHKB):c.1983_1984del (p.Gly662fs)
NM_000293.3(PHKB):c.2048dup (p.Ser684fs) rs766592623
NM_000293.3(PHKB):c.2332del (p.Leu778fs)
NM_000293.3(PHKB):c.2345_2355del (p.Val782fs)
NM_000293.3(PHKB):c.2427+1045del rs2151739379
NM_000293.3(PHKB):c.2427+996_2427+1000del
NM_000293.3(PHKB):c.2457del (p.Glu820fs) rs1322527832
NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter)
NM_000293.3(PHKB):c.2633G>A (p.Trp878Ter)
NM_000293.3(PHKB):c.2772G>A (p.Trp924Ter)
NM_000293.3(PHKB):c.2817dup (p.Gly940fs)
NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter)
NM_000293.3(PHKB):c.2896-1G>T
NM_000293.3(PHKB):c.3038del (p.Asn1013fs)
NM_000293.3(PHKB):c.341dup (p.Glu115fs)
NM_000293.3(PHKB):c.369_370del (p.Gly124fs)
NM_000293.3(PHKB):c.496G>T (p.Glu166Ter)
NM_000293.3(PHKB):c.566del (p.Gly189fs)
NM_000293.3(PHKB):c.573_577del (p.Gln191fs) rs1233197046
NM_000293.3(PHKB):c.713C>A (p.Ser238Ter)
NM_000293.3(PHKB):c.80C>G (p.Ser27Ter)
NM_000293.3(PHKB):c.856G>T (p.Glu286Ter)
NM_000293.3(PHKB):c.868_869del (p.Ser289_His290insTer)
NM_000293.3(PHKB):c.93del (p.Ser34fs)
NM_000293.3(PHKB):c.943C>T (p.Gln315Ter)
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) rs137853590
NM_000294.3(PHKG2):c.250del (p.Val84fs) rs1567260747
NM_000294.3(PHKG2):c.265dup (p.His89fs)
NM_000294.3(PHKG2):c.318_319del (p.Val106_Phe107insTer) rs1555467052
NM_000294.3(PHKG2):c.334_337del (p.Lys112fs)
NM_000294.3(PHKG2):c.385G>T (p.Glu129Ter)
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter) rs772912966
NM_000294.3(PHKG2):c.53_54del (p.Lys18fs)
NM_000294.3(PHKG2):c.557-1_557delinsAG rs2151310104
NM_000294.3(PHKG2):c.648-2_648del
NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter) rs1555467557
NM_000294.3(PHKG2):c.72C>A (p.Tyr24Ter)
NM_000294.3(PHKG2):c.745C>T (p.Gln249Ter) rs2053428286
NM_000294.3(PHKG2):c.767del (p.Glu256fs)
NM_000294.3(PHKG2):c.827del (p.Pro276fs)
NM_000294.3(PHKG2):c.850C>T (p.Gln284Ter)
NM_000294.3(PHKG2):c.900G>A (p.Trp300Ter)
NM_000294.3(PHKG2):c.905_909del (p.Leu302fs)
NM_000308.4(CTSA):c.1005del (p.Ala336fs)
NM_000308.4(CTSA):c.1019dup (p.Tyr340Ter)
NM_000308.4(CTSA):c.1035C>A (p.Tyr345Ter)
NM_000308.4(CTSA):c.1063C>T (p.Gln355Ter)
NM_000308.4(CTSA):c.1105C>T (p.Gln369Ter)
NM_000308.4(CTSA):c.1106del (p.Gln369fs)
NM_000308.4(CTSA):c.112del (p.Leu38fs) rs1241378191
NM_000308.4(CTSA):c.1215_1216insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCATGGCCTGCAATTTC (p.Phe405_Met406insPhePhePhePhePhePheXaaXaaXaaXaaGluGlyLeuLeuThrSerGlnLysGlyArgProGlyArgGlyAlaProHisLeuProAspGlyAlaAlaGlyMetAlaCysAsnPhe)
NM_000308.4(CTSA):c.130C>T (p.Gln44Ter) rs1311180360
NM_000308.4(CTSA):c.143del (p.Arg48fs)
NM_000308.4(CTSA):c.15_19dup (p.Pro7fs)
NM_000308.4(CTSA):c.230del (p.Pro77fs) rs587779402
NM_000308.4(CTSA):c.242G>A (p.Trp81Ter)
NM_000308.4(CTSA):c.253_254dup (p.Pro86fs)
NM_000308.4(CTSA):c.275_278del (p.Asp92fs)
NM_000308.4(CTSA):c.31_34del (p.Leu11fs)
NM_000308.4(CTSA):c.350G>A (p.Trp117Ter)
NM_000308.4(CTSA):c.376del (p.Leu126fs)
NM_000308.4(CTSA):c.463G>T (p.Glu155Ter)
NM_000308.4(CTSA):c.518del (p.Phe173fs)
NM_000308.4(CTSA):c.625_626del (p.Ser209fs)
NM_000308.4(CTSA):c.692+3A>G rs786200859
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter) rs767712946
NM_000308.4(CTSA):c.833_834del (p.Tyr278fs) rs875989777
NM_000308.4(CTSA):c.843T>A (p.Cys281Ter)
NM_000308.4(CTSA):c.873T>G (p.Tyr291Ter)
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter) rs200565348
NM_000308.4(CTSA):c.94C>T (p.Gln32Ter)
NM_000308.4(CTSA):c.990dup (p.Cys331fs) rs758642867
NM_000340.2(SLC2A2):c.1170+1G>T rs1294679246
NM_000340.2(SLC2A2):c.1183del (p.Trp395fs)
NM_000340.2(SLC2A2):c.1280del (p.Phe427fs) rs1386374799
NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter) rs1715182989
NM_000340.2(SLC2A2):c.1392T>A (p.Tyr464Ter)
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs) rs1447936042
NM_000340.2(SLC2A2):c.239del (p.Pro80fs) rs769888108
NM_000340.2(SLC2A2):c.497-2A>G rs1318756243
NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter) rs1114167428
NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter) rs773581866
NM_000340.2(SLC2A2):c.708_711del (p.Phe237fs) rs1560035336
NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs) rs1560033414
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter) rs200206252
NM_000343.4(SLC5A1):c.1388T>A (p.Leu463Ter)
NM_000343.4(SLC5A1):c.1394_1395insT (p.Pro466fs) rs2149496680
NM_000343.4(SLC5A1):c.1683G>A (p.Trp561Ter)
NM_000343.4(SLC5A1):c.673G>T (p.Glu225Ter)
NM_000343.4(SLC5A1):c.824del (p.Pro275fs)
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser) rs137852333
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) rs387906468
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) rs137852334
NM_000402.4(G6PD):c.1250G>A (p.Arg417His) rs137852321
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.683G>A (p.Arg228His) rs137852332
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro) rs752177002
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1040A>G (p.Tyr347Cys) rs2125514041
NM_000404.4(GLB1):c.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.1142del (p.Lys381fs) rs2125478934
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1147A>T (p.Lys383Ter)
NM_000404.4(GLB1):c.1147_1148del (p.Lys383fs)
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1191del (p.Ile398fs) rs1559385898
NM_000404.4(GLB1):c.1225del (p.Gln408_Val409insTer)
NM_000404.4(GLB1):c.1231C>T (p.Gln411Ter)
NM_000404.4(GLB1):c.1233+1G>A rs1553606984
NM_000404.4(GLB1):c.1279_1298del (p.Ser427fs)
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs) rs1697335361
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.1310del (p.Asn437fs) rs2125469935
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) rs72555367
NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter) rs2125469895
NM_000404.4(GLB1):c.1336dup (p.Ala446fs) rs2125469871
NM_000404.4(GLB1):c.1340_1341dup (p.Asp448fs)
NM_000404.4(GLB1):c.1387_1388del (p.Leu463fs)
NM_000404.4(GLB1):c.1388T>C (p.Leu463Pro) rs2125467060
NM_000404.4(GLB1):c.1398_1399del (p.Gly467fs)
NM_000404.4(GLB1):c.1417del (p.Leu473fs)
NM_000404.4(GLB1):c.1441G>T (p.Gly481Ter)
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.1479+1G>C rs1022476871
NM_000404.4(GLB1):c.1491_1492insTTTAAATTTATTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACNNNNNNNNNNTTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCAGGGTTTGGTTTCTT (p.Ser497_Asn498insPheLysPheIleLeuLeuIleIleLeuGlyCysPheSerGlnArgGlyIleTrpGlnGlyHisGlyThrXaaXaaXaaPheTyrPheLeuArgArgSerLeuAlaLeuLeuSerGlyTrpSerAlaValValGlnSerArgLeuThrAlaThrArgValTrpPheLeu)
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) rs1553606128
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) rs72555363
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn) rs72555390
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) rs72555390
NM_000404.4(GLB1):c.1574_1583del (p.Gly525fs) rs2125463301
NM_000404.4(GLB1):c.1576_1583dup (p.His529fs) rs2125463306
NM_000404.4(GLB1):c.1577del (p.Gly526fs)
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.1582G>T (p.Gly528Ter)
NM_000404.4(GLB1):c.1583del (p.Gly528fs)
NM_000404.4(GLB1):c.1587_1590dup (p.Asp531delinsProTer) rs2125463278
NM_000404.4(GLB1):c.1616G>A (p.Trp539Ter) rs2125463197
NM_000404.4(GLB1):c.1634dup (p.Asn545fs) rs754131566
NM_000404.4(GLB1):c.163del (p.Ile55fs) rs1575475703
NM_000404.4(GLB1):c.1654dup (p.Tyr552fs)
NM_000404.4(GLB1):c.1697C>A (p.Pro566His) rs1575410340
NM_000404.4(GLB1):c.1703A>G (p.Asp568Gly)
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter) rs1803200
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.1728G>A (p.Trp576Ter)
NM_000404.4(GLB1):c.2006dup (p.Asn669fs) rs759633494
NM_000404.4(GLB1):c.245+1G>C rs778423653
NM_000404.4(GLB1):c.246-2A>G rs2125548861
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys) rs1553612220
NM_000404.4(GLB1):c.257G>A (p.Trp86Ter) rs2125548844
NM_000404.4(GLB1):c.304C>G (p.His102Asp)
NM_000404.4(GLB1):c.344del (p.Gly115fs)
NM_000404.4(GLB1):c.397G>T (p.Gly133Ter) rs2125547910
NM_000404.4(GLB1):c.401G>T (p.Gly134Val) rs773562141
NM_000404.4(GLB1):c.424A>T (p.Lys142Ter) rs776213501
NM_000404.4(GLB1):c.425_428del (p.Lys142fs) rs1699765928
NM_000404.4(GLB1):c.426dup (p.Glu143fs)
NM_000404.4(GLB1):c.433_437del (p.Ile145fs) rs1553612145
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.473del (p.Val158fs) rs2125543662
NM_000404.4(GLB1):c.482G>A (p.Trp161Ter)
NM_000404.4(GLB1):c.485del (p.Leu162fs)
NM_000404.4(GLB1):c.495_497del (p.Leu166del) rs754077128
NM_000404.4(GLB1):c.514CTC[1] (p.Leu173del)
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro) rs397515617
NM_000404.4(GLB1):c.51dup (p.Leu18fs) rs398123356
NM_000404.4(GLB1):c.531_534del (p.Gly178fs) rs1559408259
NM_000404.4(GLB1):c.550C>T (p.Gln184Ter)
NM_000404.4(GLB1):c.552+1G>A
NM_000404.4(GLB1):c.553-1G>C rs1575459735
NM_000404.4(GLB1):c.553-2A>T rs2125533195
NM_000404.4(GLB1):c.560dup (p.Asn187fs)
NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn) rs1553611055
NM_000404.4(GLB1):c.591del (p.Phe197fs)
NM_000404.4(GLB1):c.591dup (p.Asp198Ter) rs2125533127
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_000404.4(GLB1):c.677del (p.Thr226fs)
NM_000404.4(GLB1):c.694dup (p.Ala232fs) rs1553611025
NM_000404.4(GLB1):c.69_75+1del
NM_000404.4(GLB1):c.710A>G (p.Tyr237Cys)
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+2T>C rs1699291583
NM_000404.4(GLB1):c.734-2A>G rs1699088102
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.774T>A (p.Cys258Ter)
NM_000404.4(GLB1):c.785G>A (p.Gly262Glu)
NM_000404.4(GLB1):c.785G>T (p.Gly262Val)
NM_000404.4(GLB1):c.802G>C (p.Glu268Gln)
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter) rs1378338444
NM_000404.4(GLB1):c.833del (p.Gly278fs)
NM_000404.4(GLB1):c.846del (p.Thr283fs) rs1553610382
NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer) rs767704163
NM_000404.4(GLB1):c.900_903dup (p.Ser302fs) rs1699008262
NM_000404.4(GLB1):c.938A>G (p.Asn313Ser)
NM_000404.4(GLB1):c.955+5G>A
NM_000404.4(GLB1):c.964_965del (p.Ser322fs) rs1698734900
NM_000404.4(GLB1):c.982C>T (p.Pro328Ser) rs1244404381
NM_000404.4(GLB1):c.994_995del (p.Asp332fs)
NM_000507.4(FBP1):c.127A>T (p.Lys43Ter) rs2131509216
NM_000507.4(FBP1):c.131_132del (p.Ala44fs)
NM_000507.4(FBP1):c.282_289del (p.Leu95fs)
NM_000507.4(FBP1):c.325G>T (p.Glu109Ter)
NM_000507.4(FBP1):c.343_347del (p.Val115fs)
NM_000507.4(FBP1):c.426+1G>A rs1563983184
NM_000507.4(FBP1):c.504T>A (p.Tyr168Ter)
NM_000507.4(FBP1):c.544del (p.Val182fs) rs1827757538
NM_000507.4(FBP1):c.56dup (p.Met19fs)
NM_000507.4(FBP1):c.577G>T (p.Glu193Ter) rs1563979243
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.704del (p.Pro235fs) rs774362519
NM_000507.4(FBP1):c.723T>G (p.Tyr241Ter)
NM_000507.4(FBP1):c.740dup (p.Ser248fs)
NM_000507.4(FBP1):c.779del (p.Gly260fs) rs1554679825
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000507.4(FBP1):c.846C>A (p.Cys282Ter)
NM_000507.4(FBP1):c.860_863dup (p.Met289fs)
NM_000507.4(FBP1):c.960del (p.Ser321fs)
NM_000507.4(FBP1):c.961dup (p.Ser321fs)
NM_000507.4(FBP1):c.966del (p.Asp323fs) rs747269745
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro) rs1248299502
NM_000512.5(GALNS):c.-2_13del (p.Met1_Val5del)
NM_000512.5(GALNS):c.1003-3C>G rs760239741
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del) rs794726887
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1023C>A (p.Ser341Arg)
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly) rs770908172
NM_000512.5(GALNS):c.1139+1G>A rs765608680
NM_000512.5(GALNS):c.1142del (p.Pro381fs) rs746086649
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter) rs1426905479
NM_000512.5(GALNS):c.115_116del (p.Asp39fs) rs1967936031
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro) rs2142993863
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly) rs1967935882
NM_000512.5(GALNS):c.1192del (p.His398fs) rs1910636198
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg) rs1267791852
NM_000512.5(GALNS):c.120+1G>A rs911877265
NM_000512.5(GALNS):c.120+1G>C rs911877265
NM_000512.5(GALNS):c.121-1G>T rs1312522259
NM_000512.5(GALNS):c.121-2A>G rs1567538216
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter) rs1295162107
NM_000512.5(GALNS):c.1279del (p.Val427fs) rs2142992372
NM_000512.5(GALNS):c.1289dup (p.His430fs)
NM_000512.5(GALNS):c.1298_1299insCTTTTCC (p.Glu433fs)
NM_000512.5(GALNS):c.1318_1319del (p.Leu440fs)
NM_000512.5(GALNS):c.1333G>T (p.Gly445Ter)
NM_000512.5(GALNS):c.1339G>A (p.Asp447Asn)
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile) rs398123432
NM_000512.5(GALNS):c.1364+1G>A rs773746427
NM_000512.5(GALNS):c.1365-1G>C rs1909832718
NM_000512.5(GALNS):c.1401_1422dup (p.His475fs)
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter) rs118204439
NM_000512.5(GALNS):c.143T>G (p.Val48Gly) rs191519947
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser) rs118204440
NM_000512.5(GALNS):c.1473G>A (p.Trp491Ter)
NM_000512.5(GALNS):c.1482+2T>C
NM_000512.5(GALNS):c.1488G>A (p.Trp496Ter)
NM_000512.5(GALNS):c.1515del (p.Lys506fs)
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg) rs1567509070
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu) rs2143005523
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu) rs1348149236
NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp) rs2142966615
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys) rs398123435
NM_000512.5(GALNS):c.228C>A (p.Asn76Lys) rs147599478
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu) rs141340188
NM_000512.5(GALNS):c.294C>A (p.Tyr98Ter)
NM_000512.5(GALNS):c.2T>C (p.Met1Thr)
NM_000512.5(GALNS):c.319+2T>C rs2143005067
NM_000512.5(GALNS):c.320-1G>C rs1245504167
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser) rs1444754604
NM_000512.5(GALNS):c.347G>T (p.Gly116Val) rs1966945369
NM_000512.5(GALNS):c.364C>T (p.Gln122Ter)
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000512.5(GALNS):c.405_422+1del rs398123437
NM_000512.5(GALNS):c.423-11_425del
NM_000512.5(GALNS):c.423-1G>A rs2143002474
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.485C>A (p.Ser162Tyr)
NM_000512.5(GALNS):c.489del (p.Asn164fs) rs1328983959
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.491A>G (p.Asn164Ser) rs761725425
NM_000512.5(GALNS):c.493_531del (p.Cys165_Asn177del)
NM_000512.5(GALNS):c.510T>A (p.Tyr170Ter)
NM_000512.5(GALNS):c.552G>A (p.Trp184Ter)
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser) rs2143002317
NM_000512.5(GALNS):c.570T>G (p.Tyr190Ter)
NM_000512.5(GALNS):c.604del (p.Glu202fs) rs1382823339
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000512.5(GALNS):c.631C>T (p.Gln211Ter) rs1912124497
NM_000512.5(GALNS):c.675dup (p.Phe226fs)
NM_000512.5(GALNS):c.685T>C (p.Tyr229His)
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys) rs398123440
NM_000512.5(GALNS):c.711_714dup (p.Val239fs) rs2143001391
NM_000512.5(GALNS):c.715G>T (p.Val239Phe) rs145131011
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys) rs2143001380
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter) rs1275386976
NM_000512.5(GALNS):c.758+1G>A rs1363382746
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys) rs2143001210
NM_000512.5(GALNS):c.762T>G (p.Tyr254Ter)
NM_000512.5(GALNS):c.77dup (p.Ala27fs) rs2143013573
NM_000512.5(GALNS):c.817C>T (p.Gln273Ter) rs2143001165
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro) rs2143001162
NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del) rs1567530426
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser) rs1465096387
NM_000512.5(GALNS):c.892G>T (p.Glu298Ter) rs767319971
NM_000512.5(GALNS):c.899-2A>C rs1165218506
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser) rs2142999186
NM_000512.5(GALNS):c.93del (p.Asn32fs)
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg) rs556060696
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr) rs773933657
NM_000528.4(MAN2B1):c.103_106del (p.Leu35fs)
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs) rs2024251717
NM_000528.4(MAN2B1):c.1068dup (p.Ala357fs) rs2024028589
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs) rs2145261994
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1132_1133del (p.Phe378fs)
NM_000528.4(MAN2B1):c.1140C>A (p.Tyr380Ter) rs767768982
NM_000528.4(MAN2B1):c.1148del (p.Gly383fs)
NM_000528.4(MAN2B1):c.1156C>T (p.Gln386Ter)
NM_000528.4(MAN2B1):c.1164G>A (p.Trp388Ter)
NM_000528.4(MAN2B1):c.1197dup (p.Arg400fs) rs753695099
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000528.4(MAN2B1):c.1204G>T (p.Glu402Ter)
NM_000528.4(MAN2B1):c.1223del (p.Phe408fs) rs2024020274
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter) rs2024019978
NM_000528.4(MAN2B1):c.1278del (p.Tyr428fs)
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter) rs2024014272
NM_000528.4(MAN2B1):c.131del (p.Ala44fs)
NM_000528.4(MAN2B1):c.1351_1366dup (p.His456fs) rs2145256864
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs) rs771647137
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs) rs1599350640
NM_000528.4(MAN2B1):c.145dup (p.Ala49fs)
NM_000528.4(MAN2B1):c.1468_1469del (p.Phe490fs) rs2145254277
NM_000528.4(MAN2B1):c.1477del (p.Cys493fs)
NM_000528.4(MAN2B1):c.1527+1G>T
NM_000528.4(MAN2B1):c.1527+2T>G rs2145254041
NM_000528.4(MAN2B1):c.1534del (p.Val512fs) rs2023968643
NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter)
NM_000528.4(MAN2B1):c.1583_1599dup (p.Val534fs)
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs) rs2145290975
NM_000528.4(MAN2B1):c.1667_1670del (p.Asp556fs)
NM_000528.4(MAN2B1):c.166_175del (p.Pro56fs) rs2145290929
NM_000528.4(MAN2B1):c.1801del (p.Trp601fs) rs2145250113
NM_000528.4(MAN2B1):c.1802G>A (p.Trp601Ter) rs2145250103
NM_000528.4(MAN2B1):c.1858dup (p.Thr620fs)
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter) rs1599344532
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter) rs756680048
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter) rs2023854692
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
NM_000528.4(MAN2B1):c.1999C>T (p.Gln667Ter)
NM_000528.4(MAN2B1):c.2113_2114delinsTA (p.Pro705Ter)
NM_000528.4(MAN2B1):c.2117_2121dup (p.Arg708fs)
NM_000528.4(MAN2B1):c.212_215del (p.Thr71fs) rs2145290731
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter) rs2023804275
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter) rs1392422167
NM_000528.4(MAN2B1):c.2237_2240del (p.Asp746fs)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2272del (p.Asp758fs) rs2023782686
NM_000528.4(MAN2B1):c.2279_2280del (p.Arg760fs)
NM_000528.4(MAN2B1):c.2289_2295dup (p.Asn766fs)
NM_000528.4(MAN2B1):c.2300_2301insAA (p.Thr768fs)
NM_000528.4(MAN2B1):c.237_238del (p.Lys79fs) rs2145290586
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs) rs1347035611
NM_000528.4(MAN2B1):c.241del (p.Val81fs)
NM_000528.4(MAN2B1):c.2437-2A>C
NM_000528.4(MAN2B1):c.2437-2A>G rs1445197546
NM_000528.4(MAN2B1):c.2469_2478del (p.Gly824fs) rs2145225759
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter) rs2024217737
NM_000528.4(MAN2B1):c.2511G>A (p.Trp837Ter)
NM_000528.4(MAN2B1):c.2512_2513insGGCGCGGG (p.Val838fs) rs2145225515
NM_000528.4(MAN2B1):c.252C>A (p.Tyr84Ter)
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs) rs2145225250
NM_000528.4(MAN2B1):c.2555_2586del (p.Ala852fs)
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs) rs2023745479
NM_000528.4(MAN2B1):c.256dup (p.Tyr86fs) rs2024217430
NM_000528.4(MAN2B1):c.2604_2605del (p.Gln868fs)
NM_000528.4(MAN2B1):c.2647del (p.Ala883fs) rs2145224416
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter) rs1406466561
NM_000528.4(MAN2B1):c.2692_2737del (p.Pro898fs)
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs) rs2145221516
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2885_2898del (p.Arg962fs)
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter) rs757072948
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter) rs2024210372
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs) rs1735642901
NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter) rs2145289566
NM_000528.4(MAN2B1):c.343dup (p.Arg115fs)
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter) rs1366682636
NM_000528.4(MAN2B1):c.406C>T (p.Gln136Ter)
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.426del (p.Val143fs) rs2024205685
NM_000528.4(MAN2B1):c.437-1dup rs1160557969
NM_000528.4(MAN2B1):c.465G>A (p.Trp155Ter)
NM_000528.4(MAN2B1):c.466del (p.Trp155_Val156insTer) rs2024192356
NM_000528.4(MAN2B1):c.469del (p.Val156_Met157insTer)
NM_000528.4(MAN2B1):c.484_487dup (p.Thr163fs) rs2145287284
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter) rs771479314
NM_000528.4(MAN2B1):c.511C>T (p.Gln171Ter)
NM_000528.4(MAN2B1):c.522del (p.Leu176fs)
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs) rs1057516810
NM_000528.4(MAN2B1):c.53_69dup (p.Met24fs) rs2145294424
NM_000528.4(MAN2B1):c.561del (p.Arg188fs) rs770297337
NM_000528.4(MAN2B1):c.603_604del (p.Arg202fs)
NM_000528.4(MAN2B1):c.603_604dup (p.Arg202fs)
NM_000528.4(MAN2B1):c.627_630+1dup rs2145286437
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
NM_000528.4(MAN2B1):c.66G>A (p.Trp22Ter) rs2145294443
NM_000528.4(MAN2B1):c.670_671del (p.Gln224fs)
NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter)
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter) rs2024155693
NM_000528.4(MAN2B1):c.856G>T (p.Glu286Ter)
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs) rs2024151949
NM_000528.4(MAN2B1):c.965_966del (p.Gln321_Tyr322insTer) rs778131120
NM_000528.4(MAN2B1):c.979_980del (p.Met327fs) rs2145272932
NM_000528.4(MAN2B1):c.9del (p.Tyr4fs) rs2145294851
NM_000642.3(AGL):c.1000dup (p.Thr334fs) rs1553185302
NM_000642.3(AGL):c.1002_1005dup (p.Ile336fs)
NM_000642.3(AGL):c.1017del (p.Glu340fs)
NM_000642.3(AGL):c.1020del (p.Glu340fs) rs1651357012
NM_000642.3(AGL):c.1041dup (p.Val348fs) rs2101126325
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1102del (p.Glu368fs) rs1553185403
NM_000642.3(AGL):c.1107del (p.Glu369fs)
NM_000642.3(AGL):c.1142_1150del (p.Leu381_Glu384delinsTer)
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter) rs1553185418
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs) rs1057516741
NM_000642.3(AGL):c.1175del (p.His392fs) rs2101128055
NM_000642.3(AGL):c.1180G>T (p.Glu394Ter) rs1570433686
NM_000642.3(AGL):c.1183C>T (p.Gln395Ter)
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.1218T>G (p.Tyr406Ter)
NM_000642.3(AGL):c.1230_1233del (p.Gly411fs) rs1553185474
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter) rs2101128697
NM_000642.3(AGL):c.1253dup (p.Val419fs)
NM_000642.3(AGL):c.1258_1265del (p.Thr420fs)
NM_000642.3(AGL):c.133dup (p.Thr45fs)
NM_000642.3(AGL):c.1375_1378del (p.Asn459fs) rs1651548991
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.1413_1416del (p.Phe471fs)
NM_000642.3(AGL):c.1423+1G>C rs751952198
NM_000642.3(AGL):c.1423+1G>T rs751952198
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) rs140095668
NM_000642.3(AGL):c.1468_1469del (p.Ser490fs)
NM_000642.3(AGL):c.148dup (p.Tyr50fs)
NM_000642.3(AGL):c.1497_1500dup (p.Asp501fs) rs1204840140
NM_000642.3(AGL):c.1497del (p.Glu500fs)
NM_000642.3(AGL):c.1505_1514del (p.Cys502fs) rs2101136443
NM_000642.3(AGL):c.1513dup (p.Leu505fs)
NM_000642.3(AGL):c.1533dup (p.Tyr512fs) rs776733170
NM_000642.3(AGL):c.1537_1538del (p.Tyr512_Thr513insTer) rs2101136597
NM_000642.3(AGL):c.1565del (p.Gly522fs) rs1570438459
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter) rs1553185905
NM_000642.3(AGL):c.158del (p.Pro53fs) rs1650040391
NM_000642.3(AGL):c.1639C>T (p.Gln547Ter) rs2101145154
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter) rs1651872905
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs) rs1651876879
NM_000642.3(AGL):c.168_169del (p.Thr56_Phe57insTer)
NM_000642.3(AGL):c.1692del (p.Asp564fs) rs1651877300
NM_000642.3(AGL):c.1700_1701del (p.Phe567fs)
NM_000642.3(AGL):c.1717dup (p.Ile573fs) rs1651880905
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter) rs1651881949
NM_000642.3(AGL):c.1735+1_1735+15del rs1651883514
NM_000642.3(AGL):c.175del (p.Arg59fs) rs2101084835
NM_000642.3(AGL):c.1830del (p.Arg610fs) rs2101148971
NM_000642.3(AGL):c.1858_1859del (p.Leu620fs)
NM_000642.3(AGL):c.1866_1869dup (p.Ile624fs) rs2101149228
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
NM_000642.3(AGL):c.1942dup (p.Ser648fs) rs2100758555
NM_000642.3(AGL):c.1972A>T (p.Arg658Ter)
NM_000642.3(AGL):c.2001+5G>A rs1553186489
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs) rs1652003965
NM_000642.3(AGL):c.2036del (p.Lys679fs) rs2100759432
NM_000642.3(AGL):c.206dup (p.Asn69fs)
NM_000642.3(AGL):c.2094_2127del (p.Ile699fs) rs2100759667
NM_000642.3(AGL):c.2144del (p.Lys715fs) rs1652017784
NM_000642.3(AGL):c.214_215del (p.Glu72fs) rs754978531
NM_000642.3(AGL):c.2151del (p.Phe717fs)
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter) rs1652018859
NM_000642.3(AGL):c.2157+1G>T
NM_000642.3(AGL):c.2167_2179del (p.Asp723fs)
NM_000642.3(AGL):c.2204_2205del (p.His735fs)
NM_000642.3(AGL):c.2221C>T (p.Gln741Ter)
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2278del (p.Ser760fs) rs1057517136
NM_000642.3(AGL):c.2346del (p.Ile782fs) rs2100768023
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2353_2354del (p.Asn785fs)
NM_000642.3(AGL):c.2362_2392dup (p.Gly798delinsAlaLeuTer)
NM_000642.3(AGL):c.2384C>A (p.Ser795Ter) rs1206517501
NM_000642.3(AGL):c.2397dup (p.Pro800fs)
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2458C>T (p.Gln820Ter)
NM_000642.3(AGL):c.2494dup (p.Ile832fs) rs2100768945
NM_000642.3(AGL):c.2500del (p.Glu834fs)
NM_000642.3(AGL):c.251dup (p.Asn84fs) rs756175624
NM_000642.3(AGL):c.2538dup (p.Ile847fs) rs1057516984
NM_000642.3(AGL):c.2546+1G>A
NM_000642.3(AGL):c.2578del (p.Val860fs)
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter) rs1057516254
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2681+2T>G
NM_000642.3(AGL):c.2682-8A>G
NM_000642.3(AGL):c.2690_2691dup (p.Arg898fs)
NM_000642.3(AGL):c.2707G>T (p.Glu903Ter)
NM_000642.3(AGL):c.2727C>G (p.Tyr909Ter) rs1239498701
NM_000642.3(AGL):c.2793del (p.Lys932fs) rs2100779184
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) rs767529587
NM_000642.3(AGL):c.2823dup (p.Val942fs) rs1652870529
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter) rs1652877420
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.2905dup (p.Tyr969fs) rs1652879873
NM_000642.3(AGL):c.293+1G>T
NM_000642.3(AGL):c.2936del (p.Gly979fs)
NM_000642.3(AGL):c.2960G>A (p.Trp987Ter) rs1652906180
NM_000642.3(AGL):c.2963del (p.Leu988fs) rs1313973421
NM_000642.3(AGL):c.3003C>A (p.Tyr1001Ter)
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3033_3036del (p.Ile1012fs)
NM_000642.3(AGL):c.3049dup (p.Thr1017fs) rs1557772907
NM_000642.3(AGL):c.3088del (p.Val1030fs)
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
NM_000642.3(AGL):c.3110_3111dup (p.Lys1038Ter)
NM_000642.3(AGL):c.3133_3137del (p.Val1045fs)
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter) rs774926455
NM_000642.3(AGL):c.3192_3197delinsTTCACCTA (p.Met1064fs)
NM_000642.3(AGL):c.3204_3205del (p.Tyr1068_Arg1069delinsTer) rs1553188832
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3225del (p.Glu1076fs)
NM_000642.3(AGL):c.3227_3231del (p.Glu1076fs)
NM_000642.3(AGL):c.3229_3230del (p.Lys1077fs) rs1557773719
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter) rs1553188849
NM_000642.3(AGL):c.328del (p.Asp110fs) rs2101087046
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.3(AGL):c.3299G>A (p.Gly1100Glu)
NM_000642.3(AGL):c.3299del (p.Gly1100fs)
NM_000642.3(AGL):c.3317_3321del (p.Ala1106fs)
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3362+2T>C rs2100804114
NM_000642.3(AGL):c.3374T>G (p.Leu1125Ter) rs2100817917
NM_000642.3(AGL):c.3434_3435del (p.Tyr1145fs)
NM_000642.3(AGL):c.3441del (p.Arg1147fs) rs1653759340
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter) rs776977863
NM_000642.3(AGL):c.3458del (p.Ala1153fs) rs2100818312
NM_000642.3(AGL):c.3465G>A (p.Trp1155Ter) rs762547610
NM_000642.3(AGL):c.3470G>A (p.Trp1157Ter)
NM_000642.3(AGL):c.3484C>T (p.Gln1162Ter) rs2100818414
NM_000642.3(AGL):c.348_373del (p.Ala117fs) rs1057516308
NM_000642.3(AGL):c.3544_3551dup (p.Thr1185fs) rs770701389
NM_000642.3(AGL):c.3549T>G (p.Tyr1183Ter)
NM_000642.3(AGL):c.3588+1G>A
NM_000642.3(AGL):c.3589-3C>G rs1653935585
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3630del (p.Lys1210fs) rs1653938652
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
NM_000642.3(AGL):c.3697G>T (p.Glu1233Ter) rs375254875
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs) rs762545015
NM_000642.3(AGL):c.3707_3714dup (p.Ala1239delinsIleTer) rs752425529
NM_000642.3(AGL):c.3747dup (p.Gly1250fs) rs1654690647
NM_000642.3(AGL):c.3756dup (p.Arg1253fs) rs2100849117
NM_000642.3(AGL):c.3777_3778delinsAC (p.Trp1259_Met1260delinsTer) rs2100849251
NM_000642.3(AGL):c.378T>A (p.Cys126Ter) rs1553183359
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter) rs1057517017
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.382dup (p.Thr128fs)
NM_000642.3(AGL):c.3871A>T (p.Lys1291Ter)
NM_000642.3(AGL):c.388C>T (p.Gln130Ter)
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3928G>T (p.Glu1310Ter) rs2100854670
NM_000642.3(AGL):c.4024del (p.Ser1342fs)
NM_000642.3(AGL):c.4027G>T (p.Glu1343Ter) rs112795811
NM_000642.3(AGL):c.4043T>G (p.Leu1348Ter) rs1654908371
NM_000642.3(AGL):c.4087A>T (p.Lys1363Ter) rs1654912428
NM_000642.3(AGL):c.4100del (p.Gly1367fs) rs777120567
NM_000642.3(AGL):c.410_413del (p.Leu137fs) rs2101087361
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter) rs1183383313
NM_000642.3(AGL):c.4116G>A (p.Trp1372Ter)
NM_000642.3(AGL):c.4161+5G>A
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer) rs1293077915
NM_000642.3(AGL):c.4176dup (p.Thr1393fs)
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter) rs1344484845
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.420del (p.Phe140fs) rs1406033695
NM_000642.3(AGL):c.4220_4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4250T>A (p.Leu1417Ter)
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
NM_000642.3(AGL):c.4258_4259insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG (p.Asp1420fs) rs2100869173
NM_000642.3(AGL):c.4260-1G>T
NM_000642.3(AGL):c.4270dup (p.Tyr1424fs) rs1655117230
NM_000642.3(AGL):c.4284T>G (p.Tyr1428Ter)
NM_000642.3(AGL):c.4311C>G (p.Tyr1437Ter) rs760889909
NM_000642.3(AGL):c.4323del (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4339C>T (p.Gln1447Ter)
NM_000642.3(AGL):c.4347+1G>A rs1553193463
NM_000642.3(AGL):c.4347+1G>C rs1553193463
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter) rs1553193486
NM_000642.3(AGL):c.4352G>A (p.Trp1451Ter) rs1557794036
NM_000642.3(AGL):c.4353del (p.Trp1451fs)
NM_000642.3(AGL):c.436dup (p.Arg146fs)
NM_000642.3(AGL):c.4385_4389dup (p.Tyr1464fs) rs1557794150
NM_000642.3(AGL):c.440_441del (p.Leu147fs)
NM_000642.3(AGL):c.4419dup (p.Thr1474fs) rs2100876312
NM_000642.3(AGL):c.4422del (p.Ala1475fs) rs1286364615
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4500del (p.Pro1501fs)
NM_000642.3(AGL):c.4506_4510del (p.Glu1502fs) rs1064795728
NM_000642.3(AGL):c.4525del (p.Gln1509fs)
NM_000642.3(AGL):c.471del (p.Met157fs)
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.525del (p.Ala176fs) rs1571232214
NM_000642.3(AGL):c.530dup (p.Asn177fs)
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.55del (p.Glu19fs) rs1418531169
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter) rs1571232325
NM_000642.3(AGL):c.579del (p.Trp194fs) rs2101094012
NM_000642.3(AGL):c.582del (p.Thr193_Trp194insTer) rs1650336680
NM_000642.3(AGL):c.609del (p.Lys203fs) rs1571232404
NM_000642.3(AGL):c.613A>T (p.Lys205Ter) rs562042076
NM_000642.3(AGL):c.634del (p.Cys212fs) rs1650343836
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.654C>A (p.Tyr218Ter)
NM_000642.3(AGL):c.671del (p.Asn224fs) rs2101111970
NM_000642.3(AGL):c.716dup (p.Asn240fs) rs2101112150
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.795del (p.Lys265fs)
NM_000642.3(AGL):c.808G>T (p.Gly270Ter)
NM_000642.3(AGL):c.825del (p.Ile275fs) rs2101112572
NM_000642.3(AGL):c.853del (p.Arg285fs)
NM_000642.3(AGL):c.854del (p.Arg285fs) rs1553184620
NM_000642.3(AGL):c.861_864del (p.Ile288fs) rs1571243699
NM_000642.3(AGL):c.891dup (p.Leu298fs) rs775335476
NM_000642.3(AGL):c.894del (p.Trp299fs)
NM_000642.3(AGL):c.939del (p.Phe313fs) rs760589837
NM_000642.3(AGL):c.955C>T (p.Gln319Ter) rs753488821
NM_000642.3(AGL):c.958+1G>A rs1553184657
NM_000642.3(AGL):c.958+1G>T rs1553184657
NM_000642.3(AGL):c.965_966insTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG
NM_000642.3(AGL):c.966dup (p.Arg323fs) rs35856689
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101
NM_000891.3(KCNJ2):c.-217+1029_422del
NM_000891.3(KCNJ2):c.1102del (p.Leu368fs) rs1567823248
NM_000891.3(KCNJ2):c.118C>T (p.Arg40Ter) rs786205811
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val) rs104894575
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg) rs104894585
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met) rs104894585
NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn)
NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr) rs199473372
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) rs199473373
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp) rs199473377
NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala) rs199473377
NM_000891.3(KCNJ2):c.436G>A (p.Gly146Ser) rs199473654
NM_000891.3(KCNJ2):c.514G>A (p.Asp172Asn) rs104894584
NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile) rs199473655
NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp) rs199473383
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter) rs1060500053
NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter) rs1555603974
NM_000891.3(KCNJ2):c.721del (p.Glu241fs) rs2074388917
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp) rs104894579
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val) rs104894579
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_000891.3(KCNJ2):c.926C>T (p.Thr309Ile) rs199473388
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys) rs199473389
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)
NM_000925.4(PDHB):c.231T>G (p.Tyr77Ter)
NM_000925.4(PDHB):c.238_239del (p.Lys80fs)
NM_000925.4(PDHB):c.478_479del (p.Gln160fs)
NM_000925.4(PDHB):c.495G>A (p.Trp165Ter)
NM_000925.4(PDHB):c.533_534delinsAA (p.Trp178Ter)
NM_000925.4(PDHB):c.578del (p.Asp193fs)
NM_000925.4(PDHB):c.639_655del (p.Pro214fs)
NM_000925.4(PDHB):c.714dup (p.Val239fs)
NM_000925.4(PDHB):c.716_717del (p.Val239fs)
NM_000925.4(PDHB):c.803del (p.Met268fs)
NM_001008216.2(GALE):c.151_154del (p.Arg51fs)
NM_001008216.2(GALE):c.152_155del (p.Arg51fs)
NM_001008216.2(GALE):c.196dup (p.Asp66fs)
NM_001008216.2(GALE):c.1A>G (p.Met1Val)
NM_001008216.2(GALE):c.2T>C (p.Met1Thr)
NM_001008216.2(GALE):c.3G>A (p.Met1Ile)
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001008216.2(GALE):c.517del (p.Gln173fs)
NM_001008216.2(GALE):c.534G>A (p.Trp178Ter)
NM_001008216.2(GALE):c.563_564del (p.Pro188fs)
NM_001008216.2(GALE):c.634_635del (p.Val212fs)
NM_001008216.2(GALE):c.655C>T (p.Arg219Ter)
NM_001008216.2(GALE):c.689_690del (p.Asp229_Tyr230insTer)
NM_001008216.2(GALE):c.695_696del (p.Thr232fs)
NM_001008216.2(GALE):c.700del (p.Asp234fs)
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001008216.2(GALE):c.773dup (p.Lys259fs)
NM_001008216.2(GALE):c.815del (p.Gly272fs)
NM_001008216.2(GALE):c.933del (p.Ser312fs)
NM_001040716.2(PC):c.1023-1G>A rs2135917561
NM_001040716.2(PC):c.1042C>T (p.Gln348Ter) rs2135917452
NM_001040716.2(PC):c.1067_1070delinsTCCACGTGGCTGAGGGCAGGCAG (p.Ser356fs) rs2135917229
NM_001040716.2(PC):c.1084del (p.Leu362fs) rs2135917031
NM_001040716.2(PC):c.1123C>T (p.Gln375Ter) rs1310884700
NM_001040716.2(PC):c.1168dup (p.Asp390fs) rs1946484568
NM_001040716.2(PC):c.1333del (p.Arg445fs)
NM_001040716.2(PC):c.1339del (p.Ala448fs)
NM_001040716.2(PC):c.1345G>T (p.Glu449Ter) rs2135903791
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) rs768514713
NM_001040716.2(PC):c.1405C>T (p.Gln469Ter)
NM_001040716.2(PC):c.1435C>T (p.Gln479Ter)
NM_001040716.2(PC):c.1465del (p.Gln489fs)
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
NM_001040716.2(PC):c.1702_1706del (p.Thr568fs) rs2135814786
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr) rs28940589
NM_001040716.2(PC):c.1918C>T (p.Gln640Ter) rs2135809396
NM_001040716.2(PC):c.2004_2005del (p.Asn669fs)
NM_001040716.2(PC):c.2114C>A (p.Ser705Ter) rs113994146
NM_001040716.2(PC):c.2156_2159del (p.Ser719fs) rs2135803326
NM_001040716.2(PC):c.2253del (p.Cys752fs)
NM_001040716.2(PC):c.2328_2329del (p.Ala778fs) rs2135800153
NM_001040716.2(PC):c.2473+2_2473+5del
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer) rs756355930
NM_001040716.2(PC):c.2581del (p.Val861fs) rs2135795582
NM_001040716.2(PC):c.2613C>A (p.Tyr871Ter)
NM_001040716.2(PC):c.2746dup (p.Asp916fs)
NM_001040716.2(PC):c.2874dup (p.Phe959fs)
NM_001040716.2(PC):c.2948dup (p.Pro984fs)
NM_001040716.2(PC):c.2953del (p.Leu985fs) rs2135790424
NM_001040716.2(PC):c.3008del (p.Thr1003fs)
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
NM_001040716.2(PC):c.3102_3103dup (p.Thr1035fs)
NM_001040716.2(PC):c.3102dup (p.Thr1035fs) rs2135789146
NM_001040716.2(PC):c.3122_3126del (p.Gly1041fs)
NM_001040716.2(PC):c.3137_3138del (p.Glu1046fs)
NM_001040716.2(PC):c.3164del (p.Gly1055fs) rs2135786710
NM_001040716.2(PC):c.3170del (p.Thr1057fs)
NM_001040716.2(PC):c.3190del (p.Ala1064fs) rs2135786512
NM_001040716.2(PC):c.321+1G>T rs2135941937
NM_001040716.2(PC):c.3288+1G>A
NM_001040716.2(PC):c.3288+1G>T rs2135785399
NM_001040716.2(PC):c.3288+2T>C rs2135785388
NM_001040716.2(PC):c.3316A>T (p.Lys1106Ter)
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) rs1555013840
NM_001040716.2(PC):c.3362_3363del (p.Ile1121fs)
NM_001040716.2(PC):c.3377_3392del (p.Val1126fs)
NM_001040716.2(PC):c.3387del (p.Lys1130fs) rs2135783409
NM_001040716.2(PC):c.364del (p.Ser122fs)
NM_001040716.2(PC):c.366dup (p.Glu123Ter) rs2135940752
NM_001040716.2(PC):c.372_375del (p.Ala125fs) rs1565245427
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) rs144583275
NM_001040716.2(PC):c.593_612del (p.Gly198fs)
NM_001040716.2(PC):c.838_844del (p.Ala280fs)
NM_001040716.2(PC):c.908del (p.Gly303fs)
NM_001040716.2(PC):c.913G>T (p.Glu305Ter) rs1487446205
NM_001164277.1(SLC37A4):c.529_533del rs2089891548
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs) rs1943525176
NM_001164277.2(SLC37A4):c.1028_1036delinsTGCCTCG (p.Tyr343fs)
NM_001164277.2(SLC37A4):c.1049_1052del (p.Gly350fs) rs2134628172
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter) rs121908975
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
NM_001164277.2(SLC37A4):c.1079del (p.Asn360fs)
NM_001164277.2(SLC37A4):c.1124+1G>C rs782630676
NM_001164277.2(SLC37A4):c.1172_1173insT (p.Ser392fs)
NM_001164277.2(SLC37A4):c.1175del (p.Ser392fs)
NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter) rs2134626765
NM_001164277.2(SLC37A4):c.1190del (p.Phe397fs)
NM_001164277.2(SLC37A4):c.11del (p.Gln4fs) rs2134644472
NM_001164277.2(SLC37A4):c.1212T>A (p.Cys404Ter)
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.2(SLC37A4):c.149-2A>G
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter) rs374848317
NM_001164277.2(SLC37A4):c.180T>G (p.Tyr60Ter)
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter) rs1555191604
NM_001164277.2(SLC37A4):c.233G>A (p.Trp78Ter)
NM_001164277.2(SLC37A4):c.279del (p.Phe94fs)
NM_001164277.2(SLC37A4):c.294del (p.Thr99fs)
NM_001164277.2(SLC37A4):c.335dup (p.Ala113fs) rs2134639714
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001164277.2(SLC37A4):c.381+1G>A rs786204637
NM_001164277.2(SLC37A4):c.381+1G>T rs786204637
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs) rs2134638421
NM_001164277.2(SLC37A4):c.410G>A (p.Trp137Ter)
NM_001164277.2(SLC37A4):c.413G>A (p.Trp138Ter)
NM_001164277.2(SLC37A4):c.421del (p.Leu141fs)
NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter) rs1943618079
NM_001164277.2(SLC37A4):c.495G>A (p.Trp165Ter) rs1233639372
NM_001164277.2(SLC37A4):c.497_509del (p.Arg166fs)
NM_001164277.2(SLC37A4):c.528_530del (p.Cys176_Val177delinsTrp) rs2134637643
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg) rs193302893
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.2(SLC37A4):c.593del (p.Asn198fs)
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs) rs1474282972
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs) rs1943676862
NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter) rs996440530
NM_001164277.2(SLC37A4):c.680G>A (p.Trp227Ter)
NM_001164277.2(SLC37A4):c.686del (p.Leu229fs)
NM_001164277.2(SLC37A4):c.713del (p.Gly238fs)
NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter) rs2134644045
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.751dup (p.Leu251fs)
NM_001164277.2(SLC37A4):c.778del (p.Leu260_Val261insTer)
NM_001164277.2(SLC37A4):c.786-3_787del rs2134633858
NM_001164277.2(SLC37A4):c.796_797del (p.Met266fs) rs1592111172
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs) rs2134631619
NM_001164277.2(SLC37A4):c.927del (p.Gly310fs) rs1943557200
NM_001164277.2(SLC37A4):c.929del (p.Gly310fs) rs1943556915
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
NM_001164277.2(SLC37A4):c.958del (p.Arg319_Val320insTer) rs1943554955
NM_001164277.2(SLC37A4):c.962_963del (p.Thr321fs)
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs) rs2134631242
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs) rs1001301633
NM_001164277.2(SLC37A4):c.989G>A (p.Trp330Ter)
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs)
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter) rs1601803431
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) rs148324626
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
NM_001352514.2(HLCS):c.1091T>A (p.Leu364Ter)
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
NM_001352514.2(HLCS):c.1156C>T (p.Gln386Ter) rs2146525207
NM_001352514.2(HLCS):c.1210del (p.Gln403_Val404insTer)
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs) rs1555955827
NM_001352514.2(HLCS):c.1444_1456delinsATAGTGCAAACTCCAACATAGTGCAAACT (p.Leu482_Pro486delinsIleValGlnThrProThrTer)
NM_001352514.2(HLCS):c.1445dup (p.Leu482fs)
NM_001352514.2(HLCS):c.1471del (p.Val491fs)
NM_001352514.2(HLCS):c.1494dup (p.Leu500fs)
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter) rs1601779091
NM_001352514.2(HLCS):c.1505C>G (p.Ser502Ter)
NM_001352514.2(HLCS):c.1537_1540del (p.Glu513fs)
NM_001352514.2(HLCS):c.1543del (p.Ile514_Leu515insTer) rs1288789420
NM_001352514.2(HLCS):c.1552del (p.Gly519fs) rs1569206815
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1599_1600del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1627_1628del (p.Arg543fs) rs2146336516
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
NM_001352514.2(HLCS):c.1631dup (p.Asp544fs)
NM_001352514.2(HLCS):c.1634del (p.Pro545fs) rs2146336447
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter) rs1342457304
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
NM_001352514.2(HLCS):c.1698_1701del (p.Leu567fs) rs2065041493
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1769dup (p.Met590fs)
NM_001352514.2(HLCS):c.1799T>G (p.Leu600Ter)
NM_001352514.2(HLCS):c.1831C>T (p.Gln611Ter)
NM_001352514.2(HLCS):c.1869del (p.Thr624fs) rs2065031709
NM_001352514.2(HLCS):c.1910del (p.Pro637fs)
NM_001352514.2(HLCS):c.1980G>A (p.Trp660Ter)
NM_001352514.2(HLCS):c.2030del (p.Leu677fs)
NM_001352514.2(HLCS):c.2038C>T (p.Gln680Ter)
NM_001352514.2(HLCS):c.2041dup (p.Leu681fs)
NM_001352514.2(HLCS):c.2060_2081del (p.Phe687fs)
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2128_2135delinsTAAAGGGTGA (p.Asn710_Arg712delinsTer)
NM_001352514.2(HLCS):c.2176A>T (p.Lys726Ter)
NM_001352514.2(HLCS):c.2212_2213del (p.Gly738fs)
NM_001352514.2(HLCS):c.2224del (p.Tyr742fs)
NM_001352514.2(HLCS):c.2301C>G (p.Tyr767Ter)
NM_001352514.2(HLCS):c.2308C>T (p.Gln770Ter)
NM_001352514.2(HLCS):c.2333T>G (p.Leu778Ter)
NM_001352514.2(HLCS):c.2369_2373del (p.Val790fs)
NM_001352514.2(HLCS):c.2439C>G (p.Tyr813Ter)
NM_001352514.2(HLCS):c.2458del (p.Gln820fs)
NM_001352514.2(HLCS):c.505C>T (p.Gln169Ter)
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
NM_001352514.2(HLCS):c.535C>T (p.Gln179Ter) rs2066942649
NM_001352514.2(HLCS):c.655G>T (p.Glu219Ter)
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter) rs1555957134
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs) rs776431253
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter) rs1569218416
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.727del (p.Val243fs) rs2146528200
NM_001352514.2(HLCS):c.763G>T (p.Glu255Ter) rs937407062
NM_001352514.2(HLCS):c.863del (p.Ser288fs) rs1015594025
NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter)
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
NM_001360016.2(G6PD):c.130G>A (p.Ala44Thr)
NM_001360016.2(G6PD):c.1354_1358del (p.Phe452fs)
NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys)
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) rs782322505
NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu)
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.-18del rs2064260290
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) rs747548016
NM_001370658.1(BTD):c.1082_1097del (p.Asp361fs)
NM_001370658.1(BTD):c.1092dup (p.Lys365fs)
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter) rs397514339
NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer)
NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1207del (p.Cys403fs)
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) rs397514335
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser) rs397514335
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001370658.1(BTD):c.1256C>A (p.Ala419Asp)
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) rs1553654142
NM_001370658.1(BTD):c.1309G>A (p.Val437Met) rs146600671
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) rs397514436
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter) rs1559600871
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
NM_001370658.1(BTD):c.1419del (p.Tyr474fs) rs1559600938
NM_001370658.1(BTD):c.1433dup (p.Leu478fs) rs397514425
NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe) rs771537277
NM_001370658.1(BTD):c.1547_1548del (p.Tyr516fs)
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu) rs397514429
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) rs1553653062
NM_001370658.1(BTD):c.274G>A (p.Glu92Lys) rs397514352
NM_001370658.1(BTD):c.282del (p.Ile95fs) rs2065521862
NM_001370658.1(BTD):c.346C>T (p.Gln116Ter)
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter) rs2125486425
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.399+2T>G
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe) rs745343884
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.430del (p.Arg144fs)
NM_001370658.1(BTD):c.477_478delinsAA (p.Cys159_His160delinsTer) rs2125500515
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter) rs1057516812
NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter)
NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter) rs766476582
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.534_536del (p.Val179del) rs397514373
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.56_59dup (p.Gly21fs) rs2125453296
NM_001370658.1(BTD):c.588C>G (p.Tyr196Ter) rs2065635815
NM_001370658.1(BTD):c.604G>C (p.Asp202His) rs200337373
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.671C>T (p.Thr224Ile)
NM_001370658.1(BTD):c.686del (p.Leu229fs)
NM_001370658.1(BTD):c.743dup (p.Tyr248Ter) rs2125502078
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.805G>C (p.Ala269Pro) rs397514334
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001370658.1(BTD):c.836C>T (p.Ala279Val) rs397514392
NM_001370658.1(BTD):c.869G>A (p.Gly290Glu) rs397514393
NM_001370658.1(BTD):c.901dup (p.Trp301fs)
NM_001370658.1(BTD):c.932_941del (p.His311fs) rs773137513
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)
NM_001370658.1(BTD):c.950del (p.Val317fs) rs2125503248
NM_001370658.1(BTD):c.992del (p.Thr331fs) rs397514398
NM_001739.2(CA5A):c.683G>A (p.Trp228Ter)
NM_001931.5(DLAT):c.1303C>T (p.Arg435Ter)
NM_001931.5(DLAT):c.568C>T (p.Gln190Ter)
NM_001931.5(DLAT):c.723dup (p.Val242fs)
NM_001931.5(DLAT):c.802del (p.Glu268fs)
NM_001931.5(DLAT):c.848_849del (p.Asp283fs) rs782704553
NM_002076.4(GNS):c.1019A>G (p.Lys340Arg)
NM_002076.4(GNS):c.1063C>T (p.Arg355Ter) rs119461974
NM_002076.4(GNS):c.1168C>T (p.Gln390Ter) rs119461975
NM_002076.4(GNS):c.118del (p.Val40fs) rs2136259376
NM_002076.4(GNS):c.1199del (p.Ile399_Leu400insTer) rs1869297835
NM_002076.4(GNS):c.1225C>T (p.Arg409Ter)
NM_002076.4(GNS):c.1231dup (p.Asp411fs)
NM_002076.4(GNS):c.1249C>T (p.Gln417Ter) rs2136237909
NM_002076.4(GNS):c.1414C>T (p.Gln472Ter) rs2136237257
NM_002076.4(GNS):c.1414dup (p.Gln472fs)
NM_002076.4(GNS):c.1420-2A>G rs2136236649
NM_002076.4(GNS):c.1459C>T (p.Gln487Ter) rs2136236619
NM_002076.4(GNS):c.148dup (p.Val50fs) rs2136259310
NM_002076.4(GNS):c.214_220del (p.Ala72fs) rs759378094
NM_002076.4(GNS):c.23del (p.Pro8fs) rs2136259586
NM_002076.4(GNS):c.246del (p.Ser83fs)
NM_002076.4(GNS):c.255T>G (p.Tyr85Ter)
NM_002076.4(GNS):c.257_258del (p.Val86fs)
NM_002076.4(GNS):c.286_287del (p.Ala96fs)
NM_002076.4(GNS):c.320_326del (p.His107fs)
NM_002076.4(GNS):c.379del (p.Gln127fs) rs1869941124
NM_002076.4(GNS):c.386dup (p.Asn130fs) rs2136249878
NM_002076.4(GNS):c.400del (p.Ala134fs)
NM_002076.4(GNS):c.413C>A (p.Ser138Ter)
NM_002076.4(GNS):c.441del (p.Lys149fs)
NM_002076.4(GNS):c.49dup (p.Arg17fs)
NM_002076.4(GNS):c.4del (p.Arg2fs) rs2136259630
NM_002076.4(GNS):c.506G>A (p.Trp169Ter) rs2136248862
NM_002076.4(GNS):c.526G>T (p.Glu176Ter) rs2136248430
NM_002076.4(GNS):c.538A>T (p.Lys180Ter) rs2136248422
NM_002076.4(GNS):c.59_66del (p.Pro20fs)
NM_002076.4(GNS):c.638del (p.Leu213fs) rs2136247658
NM_002076.4(GNS):c.654C>A (p.Tyr218Ter) rs2136247644
NM_002076.4(GNS):c.667G>T (p.Glu223Ter)
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
NM_002076.4(GNS):c.732C>G (p.Tyr244Ter)
NM_002076.4(GNS):c.841_842insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTAATTCTT (p.Ser280_Ser281insPhePhePhePhePhePhePheXaaXaaXaaXaaProArgAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProThrAsnSer) rs2136246147
NM_002076.4(GNS):c.875+1G>A rs1214781989
NM_002076.4(GNS):c.876-2A>G
NM_002076.4(GNS):c.887_888del (p.Leu296fs) rs2136245530
NM_002076.4(GNS):c.937dup (p.Thr313fs)
NM_002076.4(GNS):c.959dup (p.Tyr320Ter)
NM_002076.4(GNS):c.974C>G (p.Ser325Ter)
NM_002103.5(GYS1):c.1192_1193insCAAGG (p.Glu398fs)
NM_002103.5(GYS1):c.1204del (p.Arg402fs) rs1568619900
NM_002103.5(GYS1):c.1230-2A>G
NM_002103.5(GYS1):c.1539del (p.Tyr514fs)
NM_002103.5(GYS1):c.1615G>T (p.Glu539Ter) rs561646250
NM_002103.5(GYS1):c.169G>T (p.Glu57Ter)
NM_002103.5(GYS1):c.359del (p.Gly120fs)
NM_002103.5(GYS1):c.405_420del (p.Asp135fs) rs2122525139
NM_002103.5(GYS1):c.546G>A (p.Trp182Ter) rs1225603414
NM_002103.5(GYS1):c.583C>T (p.Arg195Ter)
NM_002103.5(GYS1):c.699_700del (p.Arg236fs) rs1345327745
NM_002103.5(GYS1):c.721C>T (p.Arg241Ter)
NM_002103.5(GYS1):c.7_8del (p.Leu3fs)
NM_002103.5(GYS1):c.907C>T (p.Arg303Ter) rs1269675538
NM_002103.5(GYS1):c.913C>T (p.Gln305Ter) rs2122509752
NM_002103.5(GYS1):c.929del (p.Gly310fs) rs2122509664
NM_002294.3(LAMP2):c.1013C>G (p.Ser338Ter) rs1060502305
NM_002294.3(LAMP2):c.1037del (p.Asn346fs) rs2058573264
NM_002294.3(LAMP2):c.1041del (p.Phe348fs) rs2147278864
NM_002294.3(LAMP2):c.1057C>T (p.Gln353Ter) rs2147278858
NM_002294.3(LAMP2):c.1093+1G>A rs727504742
NM_002294.3(LAMP2):c.123C>A (p.Cys41Ter)
NM_002294.3(LAMP2):c.124del (p.Leu42fs) rs2147287645
NM_002294.3(LAMP2):c.129T>A (p.Tyr43Ter)
NM_002294.3(LAMP2):c.137G>A (p.Trp46Ter) rs1569371591
NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter) rs2147287624
NM_002294.3(LAMP2):c.152_153del (p.Thr51fs)
NM_002294.3(LAMP2):c.183+1G>A rs727503120
NM_002294.3(LAMP2):c.183+2T>C rs2147287565
NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.190_191del (p.Val64fs) rs1569371330
NM_002294.3(LAMP2):c.198_207del (p.Ile66fs)
NM_002294.3(LAMP2):c.205_218del (p.His69fs) rs1602540152
NM_002294.3(LAMP2):c.222T>A (p.Tyr74Ter)
NM_002294.3(LAMP2):c.235_243delinsGTGG (p.Cys79fs) rs1921053197
NM_002294.3(LAMP2):c.264dup (p.Ala89fs)
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.3(LAMP2):c.34dup (p.Ser12fs) rs1921663802
NM_002294.3(LAMP2):c.391del (p.Asp131fs) rs2147286730
NM_002294.3(LAMP2):c.415_469dup (p.Ser157Ter) rs1569369940
NM_002294.3(LAMP2):c.467T>G (p.Leu156Ter) rs1385890053
NM_002294.3(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_002294.3(LAMP2):c.546_548delinsTA (p.Ser183fs) rs1060502302
NM_002294.3(LAMP2):c.54C>A (p.Cys18Ter) rs2147294814
NM_002294.3(LAMP2):c.565del (p.Cys189fs)
NM_002294.3(LAMP2):c.64+1G>C rs957313991
NM_002294.3(LAMP2):c.646G>T (p.Glu216Ter) rs2147282434
NM_002294.3(LAMP2):c.64G>T (p.Gly22Ter) rs2147294800
NM_002294.3(LAMP2):c.653del (p.Pro218fs)
NM_002294.3(LAMP2):c.659dup (p.Gly221fs) rs1556101640
NM_002294.3(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_002294.3(LAMP2):c.72_96del (p.Val24_Arg25insTer)
NM_002294.3(LAMP2):c.73_74delinsTA (p.Arg25Ter)
NM_002294.3(LAMP2):c.741+1G>A rs1251075016
NM_002294.3(LAMP2):c.741+2T>A rs2147282355
NM_002294.3(LAMP2):c.753dup (p.Ile252fs)
NM_002294.3(LAMP2):c.763_768delinsTGAAGT (p.Asn255_Pro256delinsTer) rs2058596487
NM_002294.3(LAMP2):c.774_780del (p.Thr259fs)
NM_002294.3(LAMP2):c.788del (p.Gly263fs) rs1060502303
NM_002294.3(LAMP2):c.843T>G (p.Tyr281Ter) rs1569369194
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.3(LAMP2):c.88G>T (p.Glu30Ter)
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.3(LAMP2):c.928G>C (p.Val310Leu) rs104894858
NM_002294.3(LAMP2):c.928G>T (p.Val310Phe) rs104894858
NM_002294.3(LAMP2):c.929-197_1070del rs2147278850
NM_002294.3(LAMP2):c.955del (p.Ser319fs) rs2147278957
NM_002294.3(LAMP2):c.962G>A (p.Trp321Ter) rs1060502306
NM_002294.3(LAMP2):c.973dup (p.Leu325fs) rs1556092459
NM_002637.4(PHKA1):c.1531dup (p.Tyr511fs)
NM_002637.4(PHKA1):c.2460dup (p.Arg821fs)
NM_002637.4(PHKA1):c.2587C>T (p.Arg863Ter)
NM_002637.4(PHKA1):c.2683C>T (p.Gln895Ter)
NM_002637.4(PHKA1):c.2755C>T (p.Arg919Ter)
NM_002637.4(PHKA1):c.389G>A (p.Trp130Ter)
NM_002637.4(PHKA1):c.812_813dup (p.Asp272fs) rs2147779873
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter) rs1256371424
NM_002863.5(PYGL):c.1228A>T (p.Lys410Ter)
NM_002863.5(PYGL):c.1475G>A (p.Trp492Ter)
NM_002863.5(PYGL):c.1620+1G>T rs113993981
NM_002863.5(PYGL):c.179_197del (p.Val60fs)
NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAA
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848
NM_002863.5(PYGL):c.514C>T (p.Arg172Ter)
NM_002863.5(PYGL):c.647G>A (p.Trp216Ter)
NM_002863.5(PYGL):c.772+2_772+3del rs765425704
NM_003384.3(VRK1):c.103_104del (p.Lys35fs) rs2139748811
NM_003384.3(VRK1):c.105_108del (p.Lys35fs)
NM_003384.3(VRK1):c.1061dup (p.Thr355fs)
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
NM_003384.3(VRK1):c.1096_1097insTGAAGCA (p.Lys366fs) rs2139845849
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter) rs2139748841
NM_003384.3(VRK1):c.1133_1136del (p.Thr378fs) rs1889019962
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
NM_003384.3(VRK1):c.1149del (p.Ile384fs)
NM_003384.3(VRK1):c.1159+1G>A rs774877872
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter) rs1887100431
NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs)
NM_003384.3(VRK1):c.160+1del
NM_003384.3(VRK1):c.179_180del (p.Glu60fs) rs2139759363
NM_003384.3(VRK1):c.222del (p.Ser75fs) rs2139779014
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)
NM_003384.3(VRK1):c.280_284del (p.Glu94fs)
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)
NM_003384.3(VRK1):c.362_365del (p.Lys121fs) rs772146380
NM_003384.3(VRK1):c.387dup (p.Ile130fs) rs2139795550
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
NM_003384.3(VRK1):c.500del (p.Tyr167fs)
NM_003384.3(VRK1):c.502_503del (p.Ile168fs)
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)
NM_003384.3(VRK1):c.542_543insGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGGCCTC (p.Ser181_Asn182insArgGlyGlySerArgLeuTer) rs2139796429
NM_003384.3(VRK1):c.633_636del (p.Lys211fs)
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter) rs2139801958
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter) rs762979613
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter) rs1200170208
NM_003384.3(VRK1):c.779del (p.Pro260fs)
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter) rs2139804073
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)
NM_003384.3(VRK1):c.854del (p.Ser284_Leu285insTer)
NM_003384.3(VRK1):c.881del (p.Asn294fs)
NM_003384.3(VRK1):c.883_886del (p.Lys295fs) rs779282547
NM_003384.3(VRK1):c.897del (p.Ile299fs) rs2139814687
NM_003384.3(VRK1):c.913dup (p.Thr305fs) rs2139814734
NM_003384.3(VRK1):c.950_951dup (p.Glu318fs)
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184
NM_004130.4(GYG1):c.10C>T (p.Gln4Ter)
NM_004130.4(GYG1):c.154G>T (p.Glu52Ter) rs1559834349
NM_004130.4(GYG1):c.221T>A (p.Leu74Ter)
NM_004130.4(GYG1):c.26dup (p.Thr10fs)
NM_004130.4(GYG1):c.352_353del (p.Glu118fs)
NM_004130.4(GYG1):c.384G>A (p.Trp128Ter)
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004130.4(GYG1):c.490C>T (p.Gln164Ter)
NM_004130.4(GYG1):c.646C>T (p.Arg216Ter)
NM_004130.4(GYG1):c.683del (p.Thr228fs)
NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter) rs1714533252
NM_004130.4(GYG1):c.82C>T (p.Gln28Ter)
NM_004130.4(GYG1):c.844_845insG (p.Tyr282Ter)
NM_004130.4(GYG1):c.844dup (p.Tyr282fs)
NM_004130.4(GYG1):c.93dup (p.Thr32fs)
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu) rs2133777379
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr) rs121909730
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys) rs56275071
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737
NM_005327.7(HADH):c.203dup (p.Ile70fs)
NM_005327.7(HADH):c.304_307dup (p.Ser103fs)
NM_005327.7(HADH):c.369del (p.Asn123_Leu124insTer)
NM_005327.7(HADH):c.493C>T (p.Arg165Ter)
NM_005327.7(HADH):c.516del (p.Phe172fs)
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.64del (p.Ala22fs)
NM_005327.7(HADH):c.664_668del (p.Leu222fs)
NM_005566.4(LDHA):c.410C>A (p.Ser137Ter)
NM_005566.4(LDHA):c.505C>T (p.Arg169Ter)
NM_005566.4(LDHA):c.631_632dup (p.Leu211_Lys212insTer)
NM_005609.4(PYGM):c.1009C>T (p.Gln337Ter) rs2135834746
NM_005609.4(PYGM):c.1010A>G (p.Gln337Arg)
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)
NM_005609.4(PYGM):c.1072del (p.Glu358fs)
NM_005609.4(PYGM):c.108del (p.His37fs)
NM_005609.4(PYGM):c.1114del (p.Thr372fs)
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter) rs2058377004
NM_005609.4(PYGM):c.112_122del (p.Phe38fs) rs2058422018
NM_005609.4(PYGM):c.1138_1144del (p.Val380fs) rs2135834073
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs) rs2058376262
NM_005609.4(PYGM):c.122_126del (p.Val41fs)
NM_005609.4(PYGM):c.1239_1239+1delinsAT rs2135833743
NM_005609.4(PYGM):c.125del (p.Lys42fs)
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs) rs2058372554
NM_005609.4(PYGM):c.129_150del (p.Asp43fs) rs2058421657
NM_005609.4(PYGM):c.1338_1341dup (p.Ala448fs)
NM_005609.4(PYGM):c.1352_1372del (p.His451_Ala457del)
NM_005609.4(PYGM):c.1358_1364del (p.Val453fs) rs2135833005
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
NM_005609.4(PYGM):c.13_14del (p.Leu5fs) rs772194378
NM_005609.4(PYGM):c.1403+1G>A rs1191939323
NM_005609.4(PYGM):c.141del (p.Thr48fs)
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln)
NM_005609.4(PYGM):c.1477del (p.Leu493fs) rs2058367842
NM_005609.4(PYGM):c.1507del (p.Val503fs) rs1272600960
NM_005609.4(PYGM):c.1523del (p.Ile508fs) rs2135831473
NM_005609.4(PYGM):c.1531del (p.Asp511fs) rs2058363821
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs) rs2058363627
NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter) rs1592410003
NM_005609.4(PYGM):c.157del (p.Tyr53fs) rs2135842587
NM_005609.4(PYGM):c.164_168del (p.Ala55fs) rs780193588
NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter) rs1311913891
NM_005609.4(PYGM):c.1673dup (p.Asn559fs)
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter) rs752848974
NM_005609.4(PYGM):c.1761_1765del (p.Tyr588fs)
NM_005609.4(PYGM):c.1797del (p.Phe599fs) rs769960481
NM_005609.4(PYGM):c.1853dup (p.Met619fs) rs2135829844
NM_005609.4(PYGM):c.1948del (p.Arg650fs) rs2058354383
NM_005609.4(PYGM):c.1956_1962del (p.Leu653fs)
NM_005609.4(PYGM):c.1996C>T (p.Gln666Ter)
NM_005609.4(PYGM):c.1A>C (p.Met1Leu) rs267606993
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.1A>T (p.Met1Leu) rs267606993
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter) rs1057516349
NM_005609.4(PYGM):c.2086dup (p.Ala696fs)
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2146dup (p.Val716fs)
NM_005609.4(PYGM):c.2154del (p.Asp718fs) rs2135828360
NM_005609.4(PYGM):c.2181dup (p.Asn728fs) rs2058321851
NM_005609.4(PYGM):c.2188_2189del (p.Gln730fs)
NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter) rs140102591
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs) rs770037766
NM_005609.4(PYGM):c.2255_2264dup (p.Gln755fs) rs2058320138
NM_005609.4(PYGM):c.2259dup (p.Lys754fs) rs1565531453
NM_005609.4(PYGM):c.225C>A (p.Tyr75Ter) rs773361937
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2275_2282del (p.Phe759fs)
NM_005609.4(PYGM):c.228T>A (p.Tyr76Ter)
NM_005609.4(PYGM):c.2319del (p.Val774fs) rs1462767117
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs) rs1565531128
NM_005609.4(PYGM):c.2370del (p.Leu791fs)
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT rs2135823216
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.2394del (p.Glu797_Trp798insTer)
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs) rs1057516329
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.260_261del (p.Ser87fs) rs757762109
NM_005609.4(PYGM):c.393del (p.Leu132fs)
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.398del (p.Gly133fs)
NM_005609.4(PYGM):c.3G>A (p.Met1Ile)
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932
NM_005609.4(PYGM):c.403G>C (p.Gly135Arg)
NM_005609.4(PYGM):c.407del (p.Gly136fs) rs786204723
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.45_67del (p.Ser15fs)
NM_005609.4(PYGM):c.462dup (p.Ala155fs)
NM_005609.4(PYGM):c.485_486del (p.Arg161_Tyr162insTer)
NM_005609.4(PYGM):c.493_514del (p.Gly165fs) rs2135839973
NM_005609.4(PYGM):c.501dup (p.Asn168Ter) rs1555136390
NM_005609.4(PYGM):c.505C>T (p.Gln169Ter)
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del) rs764823441
NM_005609.4(PYGM):c.521del (p.Gly174fs) rs2058407169
NM_005609.4(PYGM):c.521dup (p.Trp175fs) rs2058407169
NM_005609.4(PYGM):c.558C>G (p.Tyr186Ter)
NM_005609.4(PYGM):c.558del (p.Arg185_Tyr186insTer)
NM_005609.4(PYGM):c.55dup (p.Leu19fs)
NM_005609.4(PYGM):c.569G>A (p.Trp190Ter) rs2135839308
NM_005609.4(PYGM):c.632del (p.Ser211fs) rs759015176
NM_005609.4(PYGM):c.648G>A (p.Trp216Ter)
NM_005609.4(PYGM):c.658C>T (p.Gln220Ter)
NM_005609.4(PYGM):c.658_659del (p.Gln220fs) rs766199191
NM_005609.4(PYGM):c.658del (p.Gln220fs)
NM_005609.4(PYGM):c.681C>A (p.Tyr227Ter) rs377503100
NM_005609.4(PYGM):c.682del (p.Asp228fs) rs2058388882
NM_005609.4(PYGM):c.699del (p.Tyr234fs)
NM_005609.4(PYGM):c.730del (p.Leu244fs) rs2135836491
NM_005609.4(PYGM):c.734G>A (p.Trp245Ter) rs2135836483
NM_005609.4(PYGM):c.772+1G>T
NM_005609.4(PYGM):c.776dup (p.Asn259fs)
NM_005609.4(PYGM):c.803del (p.Leu268fs)
NM_005609.4(PYGM):c.922del (p.Ile308fs)
NM_005908.4(MANBA):c.1096C>T (p.Arg366Ter)
NM_005908.4(MANBA):c.1101_1111del (p.Thr368fs)
NM_005908.4(MANBA):c.1153_1162del (p.Asn385fs)
NM_005908.4(MANBA):c.1156_1157del (p.Thr386fs)
NM_005908.4(MANBA):c.1169G>A (p.Trp390Ter)
NM_005908.4(MANBA):c.1234dup (p.Trp412fs)
NM_005908.4(MANBA):c.1235G>A (p.Trp412Ter)
NM_005908.4(MANBA):c.1312del (p.Tyr438fs)
NM_005908.4(MANBA):c.1422_1477dup (p.Val493delinsGlyGlnSerThrSerArgThrMetTer)
NM_005908.4(MANBA):c.1452_1453del (p.Tyr485fs) rs764364492
NM_005908.4(MANBA):c.1453dup (p.Tyr485fs)
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs) rs1188116333
NM_005908.4(MANBA):c.1470del (p.Glu491fs)
NM_005908.4(MANBA):c.1534G>T (p.Glu512Ter)
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_005908.4(MANBA):c.1553G>A (p.Trp518Ter)
NM_005908.4(MANBA):c.1561C>T (p.Gln521Ter)
NM_005908.4(MANBA):c.1581T>A (p.Tyr527Ter)
NM_005908.4(MANBA):c.1623G>A (p.Trp541Ter)
NM_005908.4(MANBA):c.1644del (p.Ala549fs)
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter)
NM_005908.4(MANBA):c.1649del (p.Arg550fs)
NM_005908.4(MANBA):c.1724G>A (p.Trp575Ter)
NM_005908.4(MANBA):c.1733del (p.Asn578fs)
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
NM_005908.4(MANBA):c.1836dup (p.Arg613fs)
NM_005908.4(MANBA):c.2030G>A (p.Trp677Ter) rs371368353
NM_005908.4(MANBA):c.2057del (p.Asn686fs)
NM_005908.4(MANBA):c.2072del (p.Leu691fs)
NM_005908.4(MANBA):c.2101_2102insTGTGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGAATGAAAACA (p.Thr701delinsMetTer)
NM_005908.4(MANBA):c.2102_2103insAT (p.Phe702fs)
NM_005908.4(MANBA):c.2161A>T (p.Arg721Ter)
NM_005908.4(MANBA):c.2175dup (p.Ser726fs) rs771465504
NM_005908.4(MANBA):c.2244C>A (p.Cys748Ter)
NM_005908.4(MANBA):c.2333_2334del (p.Asp778fs)
NM_005908.4(MANBA):c.320C>A (p.Ser107Ter)
NM_005908.4(MANBA):c.386del (p.Asp129fs)
NM_005908.4(MANBA):c.547A>T (p.Lys183Ter)
NM_005908.4(MANBA):c.63_64del (p.Ser22fs)
NM_005908.4(MANBA):c.677del (p.Lys226fs)
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter)
NM_005908.4(MANBA):c.748C>T (p.Gln250Ter)
NM_005908.4(MANBA):c.780dup (p.Gln261fs)
NM_005908.4(MANBA):c.781C>T (p.Gln261Ter)
NM_005908.4(MANBA):c.784C>T (p.Gln262Ter)
NM_005908.4(MANBA):c.819del (p.Ile274fs)
NM_005908.4(MANBA):c.870G>A (p.Trp290Ter)
NM_005908.4(MANBA):c.873G>A (p.Trp291Ter)
NM_005908.4(MANBA):c.916del (p.Leu306fs)
NM_006765.4(TUSC3):c.420dup (p.Gln141fs) rs773426468
NM_006859.4(LIAS):c.107dup (p.Glu37fs)
NM_006859.4(LIAS):c.130del (p.Asp44fs)
NM_006859.4(LIAS):c.212del (p.Gly71fs) rs1417695501
NM_006859.4(LIAS):c.266dup (p.Asn89fs) rs1355425067
NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer) rs1553934069
NM_006859.4(LIAS):c.280A>T (p.Lys94Ter)
NM_006859.4(LIAS):c.363del (p.Glu122fs) rs1553934199
NM_006859.4(LIAS):c.367_389dup (p.Leu132fs)
NM_006859.4(LIAS):c.440dup (p.Thr148fs) rs1744706299
NM_006859.4(LIAS):c.480del (p.Tyr161fs)
NM_006859.4(LIAS):c.520del (p.Tyr174fs) rs760569998
NM_006859.4(LIAS):c.649C>T (p.Arg217Ter) rs997841253
NM_006859.4(LIAS):c.64dup (p.Cys22fs) rs960319940
NM_006859.4(LIAS):c.664_665delinsTA (p.Ala222Ter) rs1744807781
NM_006859.4(LIAS):c.999dup (p.Val334fs) rs2109887859
NM_012434.5(SLC17A5):c.1019dup (p.Leu340fs)
NM_012434.5(SLC17A5):c.1039C>T (p.Gln347Ter)
NM_012434.5(SLC17A5):c.1086del (p.Cys362fs)
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs) rs1057517119
NM_012434.5(SLC17A5):c.1223del (p.Ser408fs) rs868677428
NM_012434.5(SLC17A5):c.1259+2T>C rs1064794334
NM_012434.5(SLC17A5):c.1341del (p.Thr448fs)
NM_012434.5(SLC17A5):c.144dup (p.Gly49fs) rs1562000876
NM_012434.5(SLC17A5):c.146del (p.Gly49fs) rs2150120888
NM_012434.5(SLC17A5):c.157del (p.Val53fs) rs2150120881
NM_012434.5(SLC17A5):c.1A>C (p.Met1Leu)
NM_012434.5(SLC17A5):c.1A>T (p.Met1Leu) rs1304456183
NM_012434.5(SLC17A5):c.1del (p.Met1*)
NM_012434.5(SLC17A5):c.221T>A (p.Leu74Ter) rs1474077825
NM_012434.5(SLC17A5):c.267del (p.Pro89_Ile90insTer)
NM_012434.5(SLC17A5):c.294_310del
NM_012434.5(SLC17A5):c.329G>A (p.Trp110Ter)
NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs) rs772039085
NM_012434.5(SLC17A5):c.3del (p.Met1fs)
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157
NM_012434.5(SLC17A5):c.479del (p.Gly160fs)
NM_012434.5(SLC17A5):c.532dup (p.Thr178fs)
NM_012434.5(SLC17A5):c.575del (p.Pro192fs)
NM_012434.5(SLC17A5):c.579_580insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCCCCCCCCCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGGGGCTCCCCCTCTT (p.Leu193_Glu194insPhePhePhePhePhePheXaaXaaXaaXaaProProProProProSerArgThrGlyArgLeuAlaGlyGlnArgGlySerSerLeuProSerArgGlyGlyArgAlaGluGlyAlaProProLeu) rs2150115214
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) rs1769021763
NM_012434.5(SLC17A5):c.683_698del (p.Tyr228fs)
NM_012434.5(SLC17A5):c.684T>G (p.Tyr228Ter)
NM_012434.5(SLC17A5):c.699del (p.Phe233fs) rs779548058
NM_012434.5(SLC17A5):c.699dup (p.Gly234fs)
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter) rs755923873
NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs) rs753141230
NM_012434.5(SLC17A5):c.757C>T (p.Gln253Ter)
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028
NM_012434.5(SLC17A5):c.829C>T (p.Gln277Ter) rs1768174708
NM_012434.5(SLC17A5):c.860_863dup (p.Leu289fs) rs2150099393
NM_012434.5(SLC17A5):c.905del (p.Asn302fs) rs771156053
NM_012434.5(SLC17A5):c.908G>A (p.Trp303Ter)
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter) rs1057516601
NM_012434.5(SLC17A5):c.916del (p.Tyr306fs)
NM_012434.5(SLC17A5):c.923T>G (p.Leu308Ter) rs766036082
NM_012434.5(SLC17A5):c.964_976del (p.Phe322fs) rs2150099225
NM_012434.5(SLC17A5):c.976G>T (p.Glu326Ter) rs745386414
NM_012434.5(SLC17A5):c.994del (p.Ser332fs)
NM_012434.5(SLC17A5):c.998del (p.Leu333fs) rs779494716
NM_016042.4(EXOSC3):c.112del (p.Glu38fs) rs587780333
NM_016042.4(EXOSC3):c.129del (p.Gly44fs)
NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter)
NM_016042.4(EXOSC3):c.155del (p.Pro52fs) rs886041316
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)
NM_016042.4(EXOSC3):c.174_183del (p.Arg58fs)
NM_016042.4(EXOSC3):c.180del (p.Ser61fs)
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)
NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs) rs672601331
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)
NM_016042.4(EXOSC3):c.301del (p.Trp101fs)
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)
NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile) rs1198691735
NM_016042.4(EXOSC3):c.404_407del (p.Gly135fs) rs2118980158
NM_016042.4(EXOSC3):c.422del (p.Leu141fs)
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.551del (p.Cys184fs)
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)
NM_016203.4(PRKAG2):c.1006G>T (p.Val336Leu) rs727504707
NM_016203.4(PRKAG2):c.1007T>C (p.Val336Ala) rs2151024166
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg) rs121908988
NM_016203.4(PRKAG2):c.1453A>G (p.Lys485Glu)
NM_016203.4(PRKAG2):c.1516G>A (p.Glu506Lys)
NM_016203.4(PRKAG2):c.1588C>G (p.His530Asp) rs1804721948
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg) rs267606977
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln) rs121908991
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) rs121908991
NM_016203.4(PRKAG2):c.869A>T (p.Lys290Ile) rs1808950153
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro) rs121908987
NM_016219.5(MAN1B1):c.1075G>T (p.Gly359Ter)
NM_016219.5(MAN1B1):c.1228del (p.Arg410fs)
NM_016219.5(MAN1B1):c.1236_1237del (p.Gly413_Asp414insTer)
NM_016219.5(MAN1B1):c.1241del (p.Asp414fs)
NM_016219.5(MAN1B1):c.1397_1398del (p.Tyr465_Tyr466insTer)
NM_016219.5(MAN1B1):c.242T>A (p.Leu81Ter) rs2130986124
NM_016219.5(MAN1B1):c.772_775del (p.Leu258fs)
NM_021957.4(GYS2):c.1413_1416del (p.Asp471fs)
NM_021957.4(GYS2):c.376_377del (p.Asn126fs)
NM_021957.4(GYS2):c.465del (p.Phe155fs) rs763929651
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) rs150382575
NM_021957.4(GYS2):c.941+1G>C rs587776831
NM_024989.4(PGAP1):c.1394_1397del (p.Ile465fs) rs781325598
NM_024989.4(PGAP1):c.1867del (p.Cys623fs)
NM_024989.4(PGAP1):c.20del (p.Asn7fs)
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter) rs1576086299
NM_024989.4(PGAP1):c.275del (p.Pro92fs)
NM_024989.4(PGAP1):c.427C>T (p.Gln143Ter) rs1410587479
NM_031229.4(RBCK1):c.1111dup (p.Cys371fs)
NM_031229.4(RBCK1):c.1136G>A (p.Trp379Ter)
NM_031229.4(RBCK1):c.1258_1259dup (p.Arg421fs) rs2122333654
NM_031229.4(RBCK1):c.1308+1G>T rs1555787903
NM_031229.4(RBCK1):c.1386G>A (p.Trp462Ter)
NM_031229.4(RBCK1):c.325C>T (p.Arg109Ter) rs1568554654
NM_031229.4(RBCK1):c.331C>T (p.Gln111Ter) rs746197240
NM_031229.4(RBCK1):c.49C>T (p.Arg17Ter)
NM_031229.4(RBCK1):c.582+1G>C rs1017046170
NM_031229.4(RBCK1):c.586_596del (p.Gly196fs) rs1487503835
NM_031229.4(RBCK1):c.663del (p.Glu222fs) rs2122245228
NM_031229.4(RBCK1):c.701_708dup (p.Ala238fs)
NM_031229.4(RBCK1):c.745C>T (p.Gln249Ter) rs2016260522
NM_031229.4(RBCK1):c.751C>T (p.Gln251Ter) rs2016261486
NM_031229.4(RBCK1):c.772C>T (p.Gln258Ter)
NM_031229.4(RBCK1):c.790C>T (p.Gln264Ter) rs587777561
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs) rs727503764
NM_031229.4(RBCK1):c.949C>T (p.Gln317Ter) rs2122281705
NM_033159.4(HYAL1):c.104del (p.Val35fs) rs2109309063
NM_033159.4(HYAL1):c.110_134dup (p.Arg46fs)
NM_033159.4(HYAL1):c.133G>T (p.Glu45Ter) rs1575517577
NM_033159.4(HYAL1):c.190C>T (p.Gln64Ter)
NM_033159.4(HYAL1):c.201del (p.Gly68fs)
NM_033159.4(HYAL1):c.221del (p.Phe74fs)
NM_033159.4(HYAL1):c.221dup (p.Tyr75fs) rs1450097579
NM_033159.4(HYAL1):c.238_239del (p.Gly80fs) rs782636282
NM_033159.4(HYAL1):c.250del (p.Tyr84fs)
NM_033159.4(HYAL1):c.268del (p.Glu90fs)
NM_033159.4(HYAL1):c.345_348dup (p.Ile117fs)
NM_033159.4(HYAL1):c.390G>A (p.Trp130Ter)
NM_033159.4(HYAL1):c.410G>A (p.Trp137Ter)
NM_033159.4(HYAL1):c.440del (p.Tyr147fs)
NM_033159.4(HYAL1):c.441C>G (p.Tyr147Ter) rs1702209886
NM_033159.4(HYAL1):c.445C>T (p.Gln149Ter) rs1702209367
NM_033159.4(HYAL1):c.44del (p.Leu15fs) rs1553713469
NM_033159.4(HYAL1):c.4del (p.Ala2fs)
NM_033159.4(HYAL1):c.521_524dup (p.Phe175fs) rs2109307739
NM_033159.4(HYAL1):c.545G>A (p.Trp182Ter)
NM_033159.4(HYAL1):c.546G>A (p.Trp182Ter) rs1553713200
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs) rs1702201097
NM_033159.4(HYAL1):c.597G>A (p.Trp199Ter)
NM_033159.4(HYAL1):c.599del (p.Gly200fs)
NM_033159.4(HYAL1):c.621C>A (p.Cys207Ter) rs1702200130
NM_033159.4(HYAL1):c.658C>T (p.Gln220Ter)
NM_033159.4(HYAL1):c.663_670dup (p.Gly224fs) rs1702197212
NM_033159.4(HYAL1):c.691del (p.Gln231fs) rs1553713128
NM_033159.4(HYAL1):c.707G>A (p.Trp236Ter) rs2109307152
NM_033159.4(HYAL1):c.775C>T (p.Gln259Ter)
NM_033159.4(HYAL1):c.81del (p.Asn29fs) rs781974681
NM_033159.4(HYAL1):c.85_88dup (p.Arg30fs)
NM_033159.4(HYAL1):c.937C>T (p.Gln313Ter) rs2109304251
NM_152419.3(HGSNAT):c.1034_1049del (p.Ile345fs) rs2130783645
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter) rs752939204
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter) rs756420301
NM_152419.3(HGSNAT):c.1054_1055insATCAATTTCTAATGGGATTTCCAGAGTTGAAAAAGACAAATATTCAGCTTTAGGAAGCACAGTTGAGTCCTGAGCAGTACAAATAAAAATATAGGCTGGGCACAGTGGCTCACATGTGTAATCCCAGCACTTTCGGAGGCTGAGGTGGGTGGATTGCTGGAGTCCAGCAGTTTGAAAACAGCCTGAGCAACATGGCAAGACCCCATCTCTACAAAAAATACAACAATTATCCGGGCATGGTGGCACAAGCCCGTAGTCCCAGCTACTCAGGAAGCTGAGGTGGATCGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCACACTGAATGACAGAGTGAGACTGTCTTAATAAAAAATATGAGTCAGCGTATAAGTTAAAAGGAGTTTTAAAAGATACTAATCCAAAAGAAGGCAGAAAAGGAGAAACATAATAGACTTACCAGCCCAATTTAAAAGTCAGGGATTATAAACATGAATTGAAGAAGTGAGACCCAGTTA (p.Leu352delinsTyrGlnPheLeuMetGlyPheProGluLeuLysLysThrAsnIleGlnLeuTer) rs2130783742
NM_152419.3(HGSNAT):c.10del (p.Ala4fs)
NM_152419.3(HGSNAT):c.1102A>T (p.Lys368Ter) rs954238515
NM_152419.3(HGSNAT):c.111del (p.Pro38fs) rs1802484500
NM_152419.3(HGSNAT):c.1139del (p.Cys380fs)
NM_152419.3(HGSNAT):c.1153_1154insCTGG (p.Asp385fs)
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_152419.3(HGSNAT):c.1174C>T (p.Gln392Ter) rs1804527418
NM_152419.3(HGSNAT):c.1245C>A (p.Cys415Ter) rs375616017
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs) rs1804565177
NM_152419.3(HGSNAT):c.127A>T (p.Lys43Ter)
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter) rs1804568176
NM_152419.3(HGSNAT):c.133dup (p.Arg45fs) rs1220771600
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter) rs1057518644
NM_152419.3(HGSNAT):c.1401del (p.Tyr468fs)
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs) rs759057396
NM_152419.3(HGSNAT):c.1464+1del rs2130810933
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1508dup (p.Leu504fs) rs2130819661
NM_152419.3(HGSNAT):c.150del (p.Met51fs) rs1802737867
NM_152419.3(HGSNAT):c.1542+4dup rs1401818080
NM_152419.3(HGSNAT):c.1610del (p.Leu537fs) rs2130821307
NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter) rs1586698317
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter) rs1554537841
NM_152419.3(HGSNAT):c.1691dup (p.Leu566fs)
NM_152419.3(HGSNAT):c.1700G>A (p.Trp567Ter) rs1804781641
NM_152419.3(HGSNAT):c.244C>T (p.Gln82Ter)
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter) rs1803166332
NM_152419.3(HGSNAT):c.376G>T (p.Glu126Ter) rs1803180587
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter) rs1803181154
NM_152419.3(HGSNAT):c.451del (p.Cys151fs)
NM_152419.3(HGSNAT):c.493+1G>C
NM_152419.3(HGSNAT):c.494-1G>A
NM_152419.3(HGSNAT):c.494-2A>G
NM_152419.3(HGSNAT):c.505dup (p.Ala169fs)
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) rs370717845
NM_152419.3(HGSNAT):c.523dup (p.Ala175fs)
NM_152419.3(HGSNAT):c.525dup (p.Val176fs) rs483352895
NM_152419.3(HGSNAT):c.557T>A (p.Leu186Ter)
NM_152419.3(HGSNAT):c.610G>T (p.Glu204Ter)
NM_152419.3(HGSNAT):c.634G>T (p.Glu212Ter)
NM_152419.3(HGSNAT):c.679C>T (p.Gln227Ter) rs1803593441
NM_152419.3(HGSNAT):c.682_740del (p.Pro228fs) rs2130745878
NM_152419.3(HGSNAT):c.698dup (p.Ser234fs)
NM_152419.3(HGSNAT):c.719del (p.Leu240fs) rs2130746148
NM_152419.3(HGSNAT):c.739del (p.Arg247fs) rs1085307880
NM_152419.3(HGSNAT):c.74_75del (p.Pro25fs)
NM_152419.3(HGSNAT):c.781G>T (p.Gly261Ter) rs2130750698
NM_152419.3(HGSNAT):c.793dup (p.Trp265fs)
NM_152419.3(HGSNAT):c.852-1G>A rs1447092074
NM_152419.3(HGSNAT):c.852-2A>G
NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter)
NM_152419.3(HGSNAT):c.86C>A (p.Ser29Ter)
NM_152419.3(HGSNAT):c.87_100dup (p.Gln34fs) rs2130648345
NM_152419.3(HGSNAT):c.884_885insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT (p.Leu295_Ser296insIlePhePheTyrPhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer) rs2130766198
NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter) rs372933126
NM_152419.3(HGSNAT):c.90dup (p.Arg31fs) rs2130648385
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter) rs1803878901
NM_152419.3(HGSNAT):c.932del (p.Leu311fs)
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211
NM_152419.3(HGSNAT):c.959del (p.Leu320fs)
NM_152419.3(HGSNAT):c.969C>A (p.Cys323Ter)
NM_152419.3(HGSNAT):c.974G>A (p.Gly325Glu) rs753315223
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter) rs78324544
NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)
NM_198586.3(NHLRC1):c.230del (p.Gly77fs)
NM_198586.3(NHLRC1):c.37_38insTC (p.His13fs) rs1217276014
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter) rs1157872508
NM_198586.3(NHLRC1):c.519del (p.Asp173fs)
NM_198586.3(NHLRC1):c.558_562del (p.His187fs)
NM_198586.3(NHLRC1):c.612del (p.Phe204fs) rs1171412241
NM_198586.3(NHLRC1):c.670_673del (p.Thr224fs) rs2150702964
NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter) rs750055958
NM_198586.3(NHLRC1):c.742del (p.Glu248fs)
NM_198586.3(NHLRC1):c.799del (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.799dup (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer) rs1193841505

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