ClinVar Miner

List of variants reported as pathogenic for disorder of glycogen metabolism

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2080
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
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_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
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_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403 0.00019
NM_004130.4(GYG1):c.143+3G>C rs370652040 0.00016
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_000293.3(PHKB):c.1127-2A>G rs535749057 0.00012
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu) rs121918404 0.00012
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_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_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_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_000293.3(PHKB):c.2326C>T (p.Gln776Ter) rs149244943 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_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030 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_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 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.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 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_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_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375 0.00006
NM_002103.5(GYS1):c.678+1G>A rs755305465 0.00006
NM_002863.5(PYGL):c.1620+1G>A rs113993981 0.00006
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser) rs121918423 0.00006
NM_198586.3(NHLRC1):c.468del (p.Gly158fs) rs757954108 0.00006
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_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 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_002863.5(PYGL):c.1947C>A (p.Tyr649Ter) rs150547274 0.00005
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973 0.00005
NM_005609.4(PYGM):c.2178-1G>A rs143670942 0.00005
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731 0.00005
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.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 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_000289.6(PFKM):c.298C>T (p.Arg100Ter) rs374547385 0.00004
NM_000293.3(PHKB):c.2427+965A>C rs761645932 0.00004
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743 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_002863.5(PYGL):c.2426C>T (p.Ser809Leu) rs760187622 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_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
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.1930G>T (p.Ala644Ser) rs752735168 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_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 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_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter) rs137852546 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.2143C>T (p.Arg715Trp) rs780656375 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_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
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.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702 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_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194 0.00002
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953 0.00002
NM_000293.3(PHKB):c.2926G>T (p.Glu976Ter) rs199948078 0.00002
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 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_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_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.345+2T>A rs1219299972 0.00002
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00002
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser) rs780082503 0.00002
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_000151.4(G6PC1):c.884G>A (p.Arg295His) rs375212414 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.1327-2A>G rs1410829147 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.1962_1964del (p.Glu656del) rs1030961946 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.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.2331+2T>A rs1057517148 0.00001
NM_000152.5(GAA):c.2482-2A>G rs756671283 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_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.1643G>A (p.Trp548Ter) rs137852894 0.00001
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln) rs774619760 0.00001
NM_000158.4(GBE1):c.1803+2T>C rs539203557 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.2081T>A (p.Ile694Asn) rs1209123501 0.00001
NM_000158.4(GBE1):c.42C>G (p.Tyr14Ter) rs1328296506 0.00001
NM_000158.4(GBE1):c.476C>T (p.Pro159Leu) rs1559676007 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893 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_000158.4(GBE1):c.993-1G>T rs763016962 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.1500+1G>A rs770066278 0.00001
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) rs138893744 0.00001
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp) rs104894034 0.00001
NM_000290.4(PGAM2):c.331C>T (p.Gln111Ter) rs764676548 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000292.3(PHKA2):c.557G>A (p.Arg186His) rs137852290 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.306-2A>G rs797044442 0.00001
NM_000293.3(PHKB):c.307C>T (p.Arg103Ter) rs145166656 0.00001
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022 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.431T>C (p.Leu144Pro) rs1567261889 0.00001
NM_000294.3(PHKG2):c.433C>T (p.His145Tyr) rs137853591 0.00001
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445 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_000294.3(PHKG2):c.643G>A (p.Asp215Asn) rs767427889 0.00001
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter) rs560414449 0.00001
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744 0.00001
NM_000340.2(SLC2A2):c.157C>T (p.Arg53Ter) rs771477447 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000340.2(SLC2A2):c.952G>A (p.Gly318Arg) rs780067980 0.00001
NM_000340.2(SLC2A2):c.963+1G>A rs371977235 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.3836+1G>A rs780883601 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_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.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs) rs782172072 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.697G>A (p.Gly233Ser) rs749922511 0.00001
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) rs113993975 0.00001
NM_004130.4(GYG1):c.631del (p.Val211fs) rs1429663478 0.00001
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter) rs727502869 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.1963G>A (p.Glu655Lys) rs119103253 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_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 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_031229.4(RBCK1):c.1054C>T (p.Arg352Ter) rs780854072 0.00001
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys) rs1342598444 0.00001
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs) rs730880330 0.00001
NM_053013.4(ENO3):c.559G>A (p.Glu187Lys) rs772218199 0.00001
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793 0.00001
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575 0.00001
A353P
AGL, EcoRI FRAGMENT INS
G213G
G317D
G372S
GRCh37/hg19 11p15.1(chr11:18418095-18422557)
GRCh37/hg19 Xq13.2(chrX:71801020-71804146)
NC_000001.10:g.(?_100316599)_(100316700_?)del
NC_000001.10:g.(?_100316599)_(100459317_?)del
NC_000001.10:g.(?_100327793)_(100327999_?)del
NC_000001.10:g.(?_100340233)_(100343394_?)del
NC_000001.10:g.(?_100341994)_(100353684_?)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_000001.11: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.(81643175_81691931)_(81720105_81754594)del
NC_000003.11:g.(?_148447967)_(151176497_?)del
NC_000003.11:g.(?_148709428)_(148709454_?)del
NC_000003.11:g.(?_170727727)_(170727891_?)del
NC_000003.11:g.(?_170732238)_(170732540_?)del
NC_000003.11:g.(?_81539548)_(81699082_?)del
NC_000003.11:g.(?_81539548)_(81754774_?)del
NC_000003.11:g.(?_81539558)_(81643194_?)del
NC_000003.11:g.(?_81539558)_(81720124_?)del
NC_000003.11:g.(?_81542964)_(81586266_?)del
NC_000003.11:g.(?_81584326)_(81586266_?)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)_(81720124_?)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.(?_81691912)_(81810668_?)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.(?_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_000003.12:g.81705614del
NC_000006.11:g.(?_18121650)_(18149358_?)del
NC_000007.13:g.(?_44102363)_(44105128_?)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.(?_118897293)_(118897825_?)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.(?_64518135)_(64519387_?)del
NC_000011.9:g.(?_64520971)_(64526196_?)del
NC_000011.9:g.(?_64522725)_(64527370_?)del
NC_000011.9:g.(?_64522783)_(66283694_?)del
NC_000011.9:g.(?_64525241)_(64527380_?)del
NC_000012.11:g.(?_21689888)_(21711267_?)del
NC_000012.11:g.(?_21733256)_(21757526_?)del
NC_000012.11:g.(?_48535509)_(48538245_?)del
NC_000014.8:g.(?_51372090)_(51411141_?)del
NC_000014.9:g.(?_50909875)_(50912323_?)del
NC_000016.10:g.(?_47669195)_(47669437_?)del
NC_000016.10:g.47499755GTCAA[1]
NC_000016.9:g.(?_30760142)_(30768418_?)del
NC_000016.9:g.(?_30762850)_(30762944_?)del
NC_000016.9:g.(?_47495262)_(47537021_?)del
NC_000016.9:g.(?_47495262)_(47549532_?)del
NC_000016.9:g.(?_47495262)_(47614289_?)del
NC_000016.9:g.(?_47495262)_(47621694_?)del
NC_000016.9:g.(?_47495262)_(47644851_?)del
NC_000016.9:g.(?_47531290)_(47537021_?)del
NC_000016.9:g.(?_47531290)_(47545703_?)del
NC_000016.9:g.(?_47531290)_(47549532_?)del
NC_000016.9:g.(?_47531290)_(47581479_?)del
NC_000016.9:g.(?_47531290)_(47623033_?)del
NC_000016.9:g.(?_47531290)_(47644851_?)del
NC_000016.9:g.(?_47531290)_(47703348_?)del
NC_000016.9:g.(?_47536882)_(47537021_?)del
NC_000016.9:g.(?_47545556)_(47581479_?)del
NC_000016.9:g.(?_47581324)_(47581479_?)del
NC_000016.9:g.(?_47614186)_(47614289_?)del
NC_000016.9:g.(?_47614186)_(47644851_?)del
NC_000016.9:g.(?_47698776)_(47699963_?)del
NC_000016.9:g.(?_47727269)_(47730419_?)del
NC_000017.10:g.(78082407_78082495)_(78087166_78090766)del
NC_000017.10:g.(78091549_78091991)_(78092157_78092451)del
NC_000017.10:g.(?_41052894)_(41053143_?)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.(?_78079696)_(78082725_?)del
NC_000017.10:g.(?_78082476)_(78090745_?)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.(?_78086997)_(78087185_?)del
NC_000017.10:g.(?_78090747)_(78093130_?)del
NC_000017.10:g.(?_78090757)_(78092614_?)del
NC_000017.10:g.(?_78090799)_(78093893_?)del
NC_000017.10:g.(?_78091379)_(78093130_?)del
NC_000017.10:g.(?_78091652)_78092189del
NC_000017.10:g.(?_78091972)_(78092176_?)del
NC_000017.10:g.(?_78092582)_(78096154_?)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_000019.9:g.(?_49477450)_(49478010_?)del
NC_000019.9:g.(?_49484767)_(49486114_?)del
NC_000019.9:g.(?_49485502)_(49486104_?)del
NC_000019.9:g.(?_49494539)_(49494760_?)del
NC_000020.10:g.(?_389402)_(398594_?)del
NC_000020.10:g.(?_389402)_(402902_?)del
NC_000020.10:g.(?_389402)_(443049_?)del
NC_000023.10:g.(?_119560002)_(119603205_?)del
NC_000023.10:g.(?_119565168)_(119603034_?)del
NC_000023.10:g.(?_119565178)_(119576537_?)del
NC_000023.10:g.(?_119565178)_(119603024_?)del
NC_000023.10:g.(?_119575565)_(119576537_?)del
NC_000023.10:g.(?_119576434)_(119603024_?)del
NC_000023.10:g.(?_119580140)_(119580302_?)del
NC_000023.10:g.(?_119602941)_(119603024_?)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_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.1018_1027delinsA (p.Val340_Tyr343delinsAsn) rs1555560204
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.202G>A (p.Gly68Arg) rs1567702819
NM_000151.4(G6PC1):c.208del (p.Trp70fs) rs2056023141
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.230+4A>G rs587776757
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.355C>G (p.His119Asp) rs1332616844
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.381C>G (p.Tyr127Ter)
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.388_400del (p.Met130fs) rs1567705064
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.468G>A (p.Trp156Ter) rs2056081389
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.550G>T (p.Gly184Ter) rs2056082144
NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu) rs104894569
NM_000151.4(G6PC1):c.551G>T (p.Gly184Val) rs104894569
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.563-3C>G rs1597991608
NM_000151.4(G6PC1):c.592_593del (p.Ile198fs) rs2151932243
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg) rs2056021410
NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys) rs2056091436
NM_000151.4(G6PC1):c.644_645delinsAA (p.Phe215Ter)
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.70C>T (p.Gln24Ter) rs2151929089
NM_000151.4(G6PC1):c.732G>A (p.Trp244Ter)
NM_000151.4(G6PC1):c.735C>A (p.Cys245Ter)
NM_000151.4(G6PC1):c.742_745del (p.Pro248fs)
NM_000151.4(G6PC1):c.750G>A (p.Trp250Ter) rs140869027
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile) rs2056092654
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.946del (p.Ser316fs)
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.-32-2A>G rs1445232530
NM_000152.5(GAA):c.-32-385_143del
NM_000152.5(GAA):c.-32-3C>A rs1055945806
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser) rs886042960
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.1057del (p.Gln353fs) rs2143853690
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.1076-1G>A rs1555600050
NM_000152.5(GAA):c.1076-2A>G rs1057516290
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg) rs755253527
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.1106T>C (p.Leu369Pro) rs2039149745
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.1134C>G (p.Tyr378Ter) rs1567830317
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1153del (p.Arg385fs) rs1555600102
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) rs786204517
NM_000152.5(GAA):c.1165del (p.Glu389fs) rs1555600111
NM_000152.5(GAA):c.1192del (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1192dup (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro) rs1598577666
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1195-19_2190-17del
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.1226_1227insG (p.Asp409fs) rs1598578030
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_1350del (p.Gly450fs)
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.1374C>A (p.Tyr458Ter)
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.1385T>C (p.Leu462Pro) rs2143866454
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.1408_1410del (p.Asn470del) rs748893499
NM_000152.5(GAA):c.1417_1420del (p.Gly473fs)
NM_000152.5(GAA):c.1420C>T (p.Gln474Ter)
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.1437G>A (p.Lys479=) rs796051877
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.148_859-11del
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1519dup (p.His507fs) rs2039216097
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly) rs1598581682
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.1559A>T (p.Asn520Ile)
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.1588G>T (p.Glu530Ter)
NM_000152.5(GAA):c.1589del (p.Glu530fs)
NM_000152.5(GAA):c.1626del (p.Tyr543fs)
NM_000152.5(GAA):c.1636+460_2672del
NM_000152.5(GAA):c.1637-2A>G rs2143882034
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg)
NM_000152.5(GAA):c.1645G>C (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>G (p.His568Arg)
NM_000152.5(GAA):c.1703A>T (p.His568Leu) rs2143882997
NM_000152.5(GAA):c.1704dup (p.Tyr569fs) rs2143883054
NM_000152.5(GAA):c.1705dup (p.Tyr569fs) rs2143883097
NM_000152.5(GAA):c.1716C>G (p.His572Gln) rs772962666
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter) rs112517802
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.1799G>T (p.Arg600Leu)
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.1819_1836del (p.Gly607_His612del)
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) rs1057516826
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.1846del (p.Asp616fs) rs1249187013
NM_000152.5(GAA):c.1846dup (p.Asp616fs) rs1249187013
NM_000152.5(GAA):c.1847dup (p.Asp616fs) rs1475559733
NM_000152.5(GAA):c.1848dup (p.Val617fs)
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.1861T>C (p.Trp621Arg) rs1327361418
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1888+1G>A rs776325453
NM_000152.5(GAA):c.1895T>G (p.Leu632Arg) rs1598585402
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del) rs2039275157
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.1952del (p.Gly651fs) rs1567835775
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.1996dup (p.Ala666fs)
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.2015G>T (p.Arg672Leu)
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.2041-1G>A rs760731229
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs)
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.2078dup (p.Ala694fs) rs730880372
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer) rs2039287852
NM_000152.5(GAA):c.2092_2099del (p.Ala698fs)
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.2122del (p.His708fs)
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.213_217dup (p.Gly73fs)
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter) rs1275298143
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter) rs140376273
NM_000152.5(GAA):c.2161del (p.Glu721fs) rs1555601802
NM_000152.5(GAA):c.2167G>A (p.Val723Met) rs767247397
NM_000152.5(GAA):c.2167_2179delinsTGCGACGTGG (p.Val723_Leu727delinsCysAspValVal) rs2039292050
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.2228A>G (p.Gln743Arg) rs1567838823
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.2242G>T (p.Glu748Ter) rs1057516363
NM_000152.5(GAA):c.2242del (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2261dup (p.Val755fs) rs1555602648
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.2331+1G>A
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.236_246del (p.Pro79fs) rs1057517165
NM_000152.5(GAA):c.2380del (p.Arg794fs) rs2143924649
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2385del (p.Glu795fs) rs2143924790
NM_000152.5(GAA):c.2399G>T (p.Ser800Ile)
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs) rs763048948
NM_000152.5(GAA):c.2411G>A (p.Trp804Ter) rs2143925134
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.2434G>A (p.Asp812Asn) rs1433117170
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro) rs374687883
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.2483_2646+1del rs1555603048
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.2544del (p.Lys849fs) rs398123173
NM_000152.5(GAA):c.2554G>T (p.Glu852Ter)
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter)
NM_000152.5(GAA):c.258del (p.Asn87fs) rs761317813
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.2655_2656del (p.Val886fs) rs1555603219
NM_000152.5(GAA):c.2675_2676dup (p.Thr893Ter)
NM_000152.5(GAA):c.2702T>A (p.Leu901Gln)
NM_000152.5(GAA):c.2702dup (p.Gln902fs)
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) rs1057516341
NM_000152.5(GAA):c.2704_2709del (p.Gln902_Lys903del)
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.2740dup (p.Gln914fs) rs745427943
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.2799G>A (p.Lys933=)
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.282del (p.Asp95fs) rs2143826963
NM_000152.5(GAA):c.2834_2835del (p.Glu945fs)
NM_000152.5(GAA):c.2T>C (p.Met1Thr) rs2039024047
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.343C>T (p.Gln115Ter) rs786204614
NM_000152.5(GAA):c.352C>T (p.Gln118Ter) rs1555598800
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.399C>A (p.Tyr133Ter) rs2039042313
NM_000152.5(GAA):c.3G>A (p.Met1Ile) rs1187796945
NM_000152.5(GAA):c.40_47del (p.Ala14fs)
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.460_465del (p.Arg154_Thr155del) rs1555598888
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+1G>T
NM_000152.5(GAA):c.546+2_546+5del rs1181354869
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>A rs773281453
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.755dup (p.Pro253fs) rs1555599619
NM_000152.5(GAA):c.759del (p.Ser254fs) rs2039117815
NM_000152.5(GAA):c.763C>T (p.Gln255Ter) rs2039118159
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.827_845del (p.Ile276fs) rs2143847172
NM_000152.5(GAA):c.829_851del (p.Thr277fs)
NM_000152.5(GAA):c.844G>C (p.Asp282His)
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.856del (p.Thr286fs)
NM_000152.5(GAA):c.859-2A>G rs2143848897
NM_000152.5(GAA):c.872T>C (p.Leu291Pro) rs2143849151
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter) rs763216519
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.934del (p.Leu312fs) rs886042358
NM_000152.5(GAA):c.955+1G>A rs1403691329
NM_000152.5(GAA):c.967C>T (p.Gln323Ter)
NM_000152.5(GAA):c.971dup (p.Ser325fs) rs2143852733
NM_000152.5(GAA):c.988_998del (p.Trp330fs)
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000152.5(GAA):c.[2228A>G;2237G>C]
NM_000152.5(GAA):c.[752C>T;761C>T]
NM_000158.4(GBE1):c.(992+1_993-1)_(1618+1_1619-1)del (p.Ser331Argfs)
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.1634A>G (p.His545Arg) rs137852889
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.1774G>T (p.Glu592Ter) rs137852890
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.1861CTT[1] (p.Leu622del) rs1576137368
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.1999dup (p.Thr667fs)
NM_000158.4(GBE1):c.2011del (p.Ser671fs)
NM_000158.4(GBE1):c.202_203del (p.Lys68fs) rs1705761854
NM_000158.4(GBE1):c.2052+1G>A rs2106809795
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT rs869320698
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.302_303del (p.Thr101fs)
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.415G>T (p.Gly139Ter) rs1553690406
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.691+5G>C rs397515344
NM_000158.4(GBE1):c.706C>T (p.Gln236Ter)
NM_000158.4(GBE1):c.783-1G>A rs397515342
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.821del (p.Asp274fs)
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_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000158.4:c.430_782del
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.116G>T (p.Arg39Leu) rs121918193
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
NM_000289.6(PFKM):c.1338del (p.Gln447fs) rs2135995131
NM_000289.6(PFKM):c.1341+1G>T rs755419857
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.2058G>T (p.Trp686Cys) rs121918196
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.428-2A>C rs895690691
NM_000289.6(PFKM):c.589C>T (p.Gln197Ter)
NM_000289.6(PFKM):c.646dup (p.Ala216fs) rs2135915377
NM_000289.6(PFKM):c.732T>A (p.Cys244Ter)
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.211del (p.Leu71fs)
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_000290.4(PGAM2):c.74G>A (p.Trp25Ter)
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) rs137852539
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn) rs137852536
NM_000291.4(PGK1):c.263T>C (p.Leu88Pro) rs137852531
NM_000291.4(PGK1):c.461T>C (p.Leu154Pro) rs1557247556
NM_000291.4(PGK1):c.473G>T (p.Gly158Val) rs137852532
NM_000291.4(PGK1):c.491A>T (p.Asp164Val) rs137852538
NM_000291.4(PGK1):c.571AAG[1] (p.Lys192del) rs431905502
NM_000291.4(PGK1):c.617G>C (p.Arg206Pro) rs137852529
NM_000291.4(PGK1):c.639C>T (p.Gly213=) rs797044505
NM_000291.4(PGK1):c.756+5G>A rs431905503
NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met) rs431905501
NM_000291.4(PGK1):c.802G>A (p.Asp268Asn) rs137852528
NM_000291.4(PGK1):c.854A>T (p.Asp285Val) rs137852535
NM_000291.4(PGK1):c.946T>C (p.Cys316Arg) rs137852533
NM_000291.4(PGK1):c.959G>A (p.Ser320Asn) rs137852537
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.1138-2A>G rs1601748216
NM_000292.3(PHKA2):c.1174C>T (p.Arg392Ter)
NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter) rs2048317403
NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter) rs2147934341
NM_000292.3(PHKA2):c.1324+1G>A rs1289077489
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.1489C>T (p.Arg497Ter)
NM_000292.3(PHKA2):c.1502del (p.His501fs)
NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter) rs1601739229
NM_000292.3(PHKA2):c.1661G>A (p.Trp554Ter)
NM_000292.3(PHKA2):c.1794-8_1812del rs1556000892
NM_000292.3(PHKA2):c.1969C>T (p.Gln657Ter)
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.2268dup (p.Asp757Ter) rs1601714299
NM_000292.3(PHKA2):c.2296C>T (p.Gln766Ter) rs137852286
NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter) rs1601780766
NM_000292.3(PHKA2):c.2378_2379del (p.Thr793fs) rs2147859879
NM_000292.3(PHKA2):c.2465del (p.Leu822fs) rs1569298646
NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys) rs2047851598
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.2735T>C (p.Met912Thr) rs1158193880
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs) rs1569297379
NM_000292.3(PHKA2):c.2783_2793del (p.Leu928fs)
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) rs1324893950
NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter) rs137852285
NM_000292.3(PHKA2):c.3029dup (p.Met1010fs)
NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter) rs137852287
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs) rs1601776523
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000292.3(PHKA2):c.3325del (p.Thr1109fs) rs2147806873
NM_000292.3(PHKA2):c.3327_3332dup (p.Arg1111_Glu1112insThrArg) rs2147806786
NM_000292.3(PHKA2):c.3329_3336+6del
NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter) rs1601689006
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) rs137852293
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.3397C>T (p.Gln1133Ter) rs1601687244
NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs) rs2047490848
NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter) rs2047487518
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu) rs1601685358
NM_000292.3(PHKA2):c.394C>T (p.His132Tyr) rs137852292
NM_000292.3(PHKA2):c.395A>C (p.His132Pro) rs137852291
NM_000292.3(PHKA2):c.421_423del (p.Phe141del) rs587776732
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu) rs137852295
NM_000292.3(PHKA2):c.584del (p.Pro195fs)
NM_000292.3(PHKA2):c.717+1G>T rs587776731
NM_000292.3(PHKA2):c.718-2A>G rs1601763099
NM_000292.3(PHKA2):c.750_752del (p.Thr251del) rs587776733
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.892C>T (p.Arg298Ter)
NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro) rs1359540820
NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly) rs137852289
NM_000292.3(PHKA2):c.918+1G>A rs1601760689
NM_000292.3(PHKA2):c.93del (p.Leu32fs) rs2048744617
NM_000293.2(PHKB):c.[2923T>C;2926G>T]
NM_000293.3(PHKB):c.1045_1049dup (p.Lys351fs)
NM_000293.3(PHKB):c.1049dup (p.Tyr350Ter)
NM_000293.3(PHKB):c.1089T>A (p.Cys363Ter)
NM_000293.3(PHKB):c.1126G>T (p.Gly376Ter)
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.1364-2A>G rs1972413438
NM_000293.3(PHKB):c.1555dup (p.Thr519fs)
NM_000293.3(PHKB):c.1622dup (p.Ile543fs)
NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter) rs1292721679
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.2424dup (p.Gln809fs)
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.2554G>T (p.Glu852Ter)
NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter)
NM_000293.3(PHKB):c.2633G>A (p.Trp878Ter)
NM_000293.3(PHKB):c.2700T>A (p.Tyr900Ter)
NM_000293.3(PHKB):c.2772G>A (p.Trp924Ter)
NM_000293.3(PHKB):c.2817dup (p.Gly940fs)
NM_000293.3(PHKB):c.2830C>T (p.Arg944Ter)
NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter)
NM_000293.3(PHKB):c.2884del (p.His962fs)
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.409C>T (p.Gln137Ter)
NM_000293.3(PHKB):c.496G>T (p.Glu166Ter)
NM_000293.3(PHKB):c.566del (p.Gly189fs)
NM_000293.3(PHKB):c.570_576delinsAC (p.Gln191fs) rs2151651792
NM_000293.3(PHKB):c.573_577del (p.Gln191fs) rs1233197046
NM_000293.3(PHKB):c.713C>A (p.Ser238Ter)
NM_000293.3(PHKB):c.76+2526_76+2527insGTCTTCCGCTTTC
NM_000293.3(PHKB):c.785G>A (p.Trp262Ter)
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_000293.3:c.(76+1_77-1)_(1068+1_1069-1)del
NM_000293.3:c.(?_-1)_(1068+1_1069-1)del
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) rs137853590
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) rs2053339231
NM_000294.3(PHKG2):c.250del (p.Val84fs) rs1567260747
NM_000294.3(PHKG2):c.265dup (p.His89fs)
NM_000294.3(PHKG2):c.277del (p.Leu93fs) rs1596680941
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu) rs137853589
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.539del (p.Pro180fs) rs2053379013
NM_000294.3(PHKG2):c.53_54del (p.Lys18fs)
NM_000294.3(PHKG2):c.557-1_557delinsAG rs2151310104
NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu) rs137853588
NM_000294.3(PHKG2):c.648-2_648del
NM_000294.3(PHKG2):c.657del (p.Cys219fs) rs1596687555
NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter) rs1555467557
NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg) rs137853592
NM_000294.3(PHKG2):c.679del (p.Leu227fs)
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.783del (p.Ser262fs) rs1372753669
NM_000294.3(PHKG2):c.800_801+34del rs2151310413
NM_000294.3(PHKG2):c.802-2A>C
NM_000294.3(PHKG2):c.827del (p.Pro276fs)
NM_000294.3(PHKG2):c.850C>T (p.Gln284Ter)
NM_000294.3(PHKG2):c.859C>T (p.Gln287Ter)
NM_000294.3(PHKG2):c.900G>A (p.Trp300Ter)
NM_000294.3(PHKG2):c.905_909del (p.Leu302fs)
NM_000294.3(PHKG2):c.927+1G>A rs1445993948
NM_000340.2(SLC2A2):c.1020T>G (p.Tyr340Ter)
NM_000340.2(SLC2A2):c.1043dup (p.Asn349fs) rs1553785722
NM_000340.2(SLC2A2):c.1051del (p.Val351fs) rs1715390589
NM_000340.2(SLC2A2):c.109-2A>G rs1576838294
NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro) rs121909747
NM_000340.2(SLC2A2):c.1170+1G>T rs1294679246
NM_000340.2(SLC2A2):c.1183del (p.Trp395fs)
NM_000340.2(SLC2A2):c.1259G>A (p.Trp420Ter) rs121909745
NM_000340.2(SLC2A2):c.1268T>A (p.Val423Glu) rs28928874
NM_000340.2(SLC2A2):c.1280del (p.Phe427fs) rs1386374799
NM_000340.2(SLC2A2):c.1358_1359del (p.Cys453fs) rs1553784980
NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter) rs1715182989
NM_000340.2(SLC2A2):c.137del (p.Leu46fs)
NM_000340.2(SLC2A2):c.1392T>A (p.Tyr464Ter)
NM_000340.2(SLC2A2):c.144del (p.Pro49fs) rs2108256953
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs) rs1447936042
NM_000340.2(SLC2A2):c.239del (p.Pro80fs) rs769888108
NM_000340.2(SLC2A2):c.2T>C (p.Met1Thr)
NM_000340.2(SLC2A2):c.2T>G (p.Met1Arg) rs1716716102
NM_000340.2(SLC2A2):c.351G>A (p.Trp117Ter) rs753980727
NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del) rs763620441
NM_000340.2(SLC2A2):c.482dup (p.Gly162fs)
NM_000340.2(SLC2A2):c.497-2A>G rs1318756243
NM_000340.2(SLC2A2):c.613-1G>C rs1553786361
NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter) rs1114167428
NM_000340.2(SLC2A2):c.666_667del (p.Gly223fs)
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.775+1del
NM_000340.2(SLC2A2):c.859C>T (p.Gln287Ter) rs121909746
NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs) rs1560033414
NM_000642.2(AGL):c.[1283G>A];[611T>A]
NM_000642.3(AGL):c.1000dup (p.Thr334fs) rs1553185302
NM_000642.3(AGL):c.1002_1005dup (p.Ile336fs)
NM_000642.3(AGL):c.100del (p.Arg34fs)
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.1070del (p.Phe357fs)
NM_000642.3(AGL):c.1083-1G>A
NM_000642.3(AGL):c.1083-2A>G rs1570433472
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.1177C>T (p.Gln393Ter)
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.1298_1299del (p.Pro433fs)
NM_000642.3(AGL):c.133dup (p.Thr45fs)
NM_000642.3(AGL):c.1375_1378del (p.Asn459fs) rs1651548991
NM_000642.3(AGL):c.1383G>A (p.Trp461Ter) rs2101132362
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1391dup (p.Asp465fs) rs786204616
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>A
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.1637T>A (p.Leu546Ter)
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.1690del (p.Asp564fs)
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+1G>A
NM_000642.3(AGL):c.1735+1_1735+15del rs1651883514
NM_000642.3(AGL):c.175del (p.Arg59fs) rs2101084835
NM_000642.3(AGL):c.1788T>A (p.Tyr596Ter)
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter) rs777871903
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.2030dup (p.Tyr677Ter)
NM_000642.3(AGL):c.2036del (p.Lys679fs) rs2100759432
NM_000642.3(AGL):c.206dup (p.Asn69fs)
NM_000642.3(AGL):c.2083C>T (p.Gln695Ter) rs1570445130
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.2214del (p.Ser738fs)
NM_000642.3(AGL):c.2221C>T (p.Gln741Ter)
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs) rs1553186613
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.2320G>T (p.Glu774Ter)
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.2433+2T>C rs2100768436
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2458C>T (p.Gln820Ter)
NM_000642.3(AGL):c.2474del (p.Thr825fs) rs2100768875
NM_000642.3(AGL):c.2494dup (p.Ile832fs) rs2100768945
NM_000642.3(AGL):c.2497C>T (p.Gln833Ter) rs757870729
NM_000642.3(AGL):c.24_25del (p.Ile9fs) rs1648909681
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.2546+1G>T
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.2681+5G>C rs1249689678
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.2717_2721del (p.Gln906fs) rs1553187957
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.293+1del rs777857395
NM_000642.3(AGL):c.2936del (p.Gly979fs)
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.2950-1G>C rs1057516793
NM_000642.3(AGL):c.2950-2A>G rs770438130
NM_000642.3(AGL):c.2960G>A (p.Trp987Ter) rs1652906180
NM_000642.3(AGL):c.2963del (p.Leu988fs) rs1313973421
NM_000642.3(AGL):c.2996del (p.Pro999fs) rs1652909202
NM_000642.3(AGL):c.3003C>A (p.Tyr1001Ter)
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3018C>G (p.Tyr1006Ter)
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.3214G>T (p.Glu1072Ter) rs752840373
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.3263dup (p.Leu1088fs)
NM_000642.3(AGL):c.3287dup (p.Arg1097fs)
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.3481_3589-405del
NM_000642.3(AGL):c.3481_3589-407del
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.3492C>G (p.Tyr1164Ter) rs370202718
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.3589-1G>A rs1289339080
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.3637C>T (p.Gln1213Ter) rs1570487381
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
NM_000642.3(AGL):c.3665del (p.Ala1222fs)
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.379_382dup (p.Thr128fs)
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.3837-1G>A rs1570508240
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.3971_3972del (p.Ser1323_Tyr1324insTer)
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.40G>T (p.Glu14Ter)
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.4119_4120del (p.Cys1373_Asp1374delinsTer)
NM_000642.3(AGL):c.4125T>A (p.Tyr1375Ter)
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter) rs762602838
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.4260-2A>C
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.4322_4323dup (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4323del (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4339C>T (p.Gln1447Ter)
NM_000642.3(AGL):c.4342G>C (p.Gly1448Arg) rs118203964
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.4371T>G (p.Tyr1457Ter) rs1655136943
NM_000642.3(AGL):c.437del (p.Arg146fs) rs1057517344
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.4448del (p.Asn1483fs) rs2100876453
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4481+1G>T
NM_000642.3(AGL):c.4490G>A (p.Trp1497Ter)
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.454G>T (p.Glu152Ter) rs1650125542
NM_000642.3(AGL):c.458C>G (p.Ser153Ter)
NM_000642.3(AGL):c.471del (p.Met157fs)
NM_000642.3(AGL):c.488T>A (p.Leu163Ter)
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.594del (p.Gln199fs)
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.664+1G>A rs61811105
NM_000642.3(AGL):c.671del (p.Asn224fs) rs2101111970
NM_000642.3(AGL):c.672dup (p.Ser225Ter) rs1057516471
NM_000642.3(AGL):c.716dup (p.Asn240fs) rs2101112150
NM_000642.3(AGL):c.74_75del (p.Leu25fs) rs2101053661
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.889A>T (p.Lys297Ter)
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.947_948del (p.Leu316fs) rs1650934988
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_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>A
NM_001164277.2(SLC37A4):c.1124+1G>C rs782630676
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)
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.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.148+1G>T 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.202G>A (p.Gly68Arg) rs193302885
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter) rs1555191604
NM_001164277.2(SLC37A4):c.233G>A (p.Trp78Ter)
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu) rs2134640168
NM_001164277.2(SLC37A4):c.279del (p.Phe94fs)
NM_001164277.2(SLC37A4):c.294del (p.Thr99fs)
NM_001164277.2(SLC37A4):c.320G>A (p.Trp107Ter)
NM_001164277.2(SLC37A4):c.335dup (p.Ala113fs) rs2134639714
NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)
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.370del (p.Val124fs) rs1555191512
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.3G>C (p.Met1Ile)
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.484_485del (p.Ser162fs)
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.576dup (p.Asp193Ter)
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.625G>A (p.Gly209Ser) rs1272300904
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.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs) rs781869215
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.795C>G (p.Tyr265Ter)
NM_001164277.2(SLC37A4):c.796_797del (p.Met266fs) rs1592111172
NM_001164277.2(SLC37A4):c.818del (p.Gly273fs) rs1592111112
NM_001164277.2(SLC37A4):c.871+1G>T rs1943574435
NM_001164277.2(SLC37A4):c.872-7_873dup
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.2(SLC37A4):c.925_928delinsTC (p.Ala309fs) rs2134631556
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.945_964del (p.Met315fs) rs1943554287
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.985+1G>A rs1943553565
NM_001164277.2(SLC37A4):c.986-1G>C
NM_001164277.2(SLC37A4):c.989G>A (p.Trp330Ter)
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.1234del (p.Ser412fs)
NM_002103.5(GYS1):c.1358C>G (p.Ser453Ter)
NM_002103.5(GYS1):c.1539del (p.Tyr514fs)
NM_002103.5(GYS1):c.1615G>T (p.Glu539Ter) rs561646250
NM_002103.5(GYS1):c.1646-1_1647del rs2122461010
NM_002103.5(GYS1):c.169G>T (p.Glu57Ter)
NM_002103.5(GYS1):c.1716_1717del (p.Tyr572_Ser573delinsTer)
NM_002103.5(GYS1):c.359del (p.Gly120fs)
NM_002103.5(GYS1):c.405_420del (p.Asp135fs) rs2122525139
NM_002103.5(GYS1):c.502C>T (p.Gln168Ter)
NM_002103.5(GYS1):c.546G>A (p.Trp182Ter) rs1225603414
NM_002103.5(GYS1):c.583C>T (p.Arg195Ter)
NM_002103.5(GYS1):c.678+2T>G rs2122520177
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.-123_11del (p.Val2fs)
NM_002294.3(LAMP2):c.1013C>G (p.Ser338Ter) rs1060502305
NM_002294.3(LAMP2):c.1020del (p.Gly341fs) rs727504597
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.1075C>T (p.Gln359Ter) rs1057517940
NM_002294.3(LAMP2):c.1082del (p.Lys361fs) rs1436664364
NM_002294.3(LAMP2):c.1093+1G>A rs727504742
NM_002294.3(LAMP2):c.1093+2440_1093+2441del rs2147277541
NM_002294.3(LAMP2):c.121del (p.Cys41fs) rs727504600
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.138G>A (p.Trp46Ter) rs1271031981
NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter) rs2147287624
NM_002294.3(LAMP2):c.14del (p.Arg5fs) rs1183994410
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.191del (p.Val64fs) rs397516738
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.294G>A (p.Trp98Ter) rs876657696
NM_002294.3(LAMP2):c.327T>A (p.Tyr109Ter) rs1397410765
NM_002294.3(LAMP2):c.34dup (p.Ser12fs) rs1921663802
NM_002294.3(LAMP2):c.36_37del (p.Gly13fs)
NM_002294.3(LAMP2):c.36_42del (p.Gly13fs) rs1436181133
NM_002294.3(LAMP2):c.391del (p.Asp131fs) rs2147286730
NM_002294.3(LAMP2):c.415_469dup (p.Ser157Ter) rs1569369940
NM_002294.3(LAMP2):c.436_440dup (p.Leu147fs) rs2147283096
NM_002294.3(LAMP2):c.440T>A (p.Leu147Ter) rs137852527
NM_002294.3(LAMP2):c.467T>G (p.Leu156Ter) rs1385890053
NM_002294.3(LAMP2):c.496C>T (p.Gln166Ter)
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.584_585insGC (p.Thr196fs)
NM_002294.3(LAMP2):c.584_588dup (p.Val197fs) rs730880492
NM_002294.3(LAMP2):c.614_615del (p.Val205fs) rs2058605108
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.65-2A>G rs397516743
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.718C>T (p.Gln240Ter) rs1556101420
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.772dup (p.Thr258fs)
NM_002294.3(LAMP2):c.774_780del (p.Thr259fs)
NM_002294.3(LAMP2):c.779_782del (p.His260fs)
NM_002294.3(LAMP2):c.788del (p.Gly263fs) rs1060502303
NM_002294.3(LAMP2):c.843T>G (p.Tyr281Ter) rs1569369194
NM_002294.3(LAMP2):c.851_852del (p.Phe284fs) rs727504648
NM_002294.3(LAMP2):c.864+1G>T rs727503119
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.864+4A>G rs2147281356
NM_002294.3(LAMP2):c.864+5G>C rs1352584474
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.3(LAMP2):c.883dup (p.Tyr295fs) rs1327363415
NM_002294.3(LAMP2):c.88G>T (p.Glu30Ter)
NM_002294.3(LAMP2):c.928+3A>G rs2147279469
NM_002294.3(LAMP2):c.928+3A>T rs2147279469
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.961T>C (p.Trp321Arg) rs104894859
NM_002294.3(LAMP2):c.962G>A (p.Trp321Ter) rs1060502306
NM_002294.3(LAMP2):c.973del (p.Leu325fs) rs1556092459
NM_002294.3(LAMP2):c.973dup (p.Leu325fs) rs1556092459
NM_002294.3(LAMP2):c.974delinsAA (p.Leu325fs)
NM_002637.4(PHKA1):c.1123_1124del (p.Val375fs)
NM_002637.4(PHKA1):c.1489C>T (p.Arg497Ter)
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.2603_2604del (p.Ser868fs) rs2052776972
NM_002637.4(PHKA1):c.2683C>T (p.Gln895Ter)
NM_002637.4(PHKA1):c.2716C>T (p.Arg906Ter)
NM_002637.4(PHKA1):c.2755C>T (p.Arg919Ter)
NM_002637.4(PHKA1):c.2847_2848del (p.Pro951fs)
NM_002637.4(PHKA1):c.3498+1G>C
NM_002637.4(PHKA1):c.389G>A (p.Trp130Ter)
NM_002637.4(PHKA1):c.635T>G (p.Leu212Ter) rs2147781328
NM_002637.4(PHKA1):c.667G>A (p.Gly223Arg) rs137852548
NM_002637.4(PHKA1):c.695del (p.Ala232fs) rs1603266754
NM_002637.4(PHKA1):c.713del (p.Cys238fs)
NM_002637.4(PHKA1):c.812_813dup (p.Asp272fs) rs2147779873
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter) rs1256371424
NM_002637.4(PHKA1):c.896A>T (p.Asp299Val) rs137852547
NM_002863.3(PYGL):c.[1964_1969invAAAAAG;1969+1_+4delGTAC]
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser) rs113993976
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys) rs113993977
NM_002863.5(PYGL):c.1228A>T (p.Lys410Ter)
NM_002863.5(PYGL):c.1404-1G>A rs750567664
NM_002863.5(PYGL):c.1475G>A (p.Trp492Ter)
NM_002863.5(PYGL):c.1620+1G>C rs113993981
NM_002863.5(PYGL):c.1620+1G>T rs113993981
NM_002863.5(PYGL):c.1778_1781del (p.Lys593fs)
NM_002863.5(PYGL):c.179_197del (p.Val60fs)
NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAA
NM_002863.5(PYGL):c.198del (p.Arg67fs)
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848
NM_002863.5(PYGL):c.25_44dup (p.Ser15fs) rs786204785
NM_002863.5(PYGL):c.298_307del (p.Met100fs) rs1555328280
NM_002863.5(PYGL):c.324del (p.Cys109fs)
NM_002863.5(PYGL):c.33dup (p.Arg12fs) rs2050731690
NM_002863.5(PYGL):c.508_510delinsTAA (p.Lys170Ter) rs1596047883
NM_002863.5(PYGL):c.514C>T (p.Arg172Ter)
NM_002863.5(PYGL):c.528+1G>A
NM_002863.5(PYGL):c.528+2T>C rs1243388778
NM_002863.5(PYGL):c.529-1G>C rs113993974
NM_002863.5(PYGL):c.647G>A (p.Trp216Ter)
NM_002863.5(PYGL):c.72C>A (p.Asn24Lys) rs1375868904
NM_002863.5(PYGL):c.730C>T (p.Leu244Phe)
NM_002863.5(PYGL):c.772+2_772+3del rs765425704
NM_002863.5(PYGL):c.808C>T (p.Arg270Ter)
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.248C>T (p.Thr83Met) rs267606858
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.438C>A (p.Tyr146Ter)
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.749G>A (p.Trp250Ter) rs727502870
NM_004130.4(GYG1):c.773dup (p.Leu258fs)
NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter) rs1714533252
NM_004130.4(GYG1):c.82C>T (p.Gln28Ter)
NM_004130.4(GYG1):c.832dup (p.Ser278fs) rs760872938
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_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_005566.4(LDHA):c.759_778del (p.Leu254fs)
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.1098G>A (p.Trp366Ter)
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.1187T>C (p.Leu396Pro) rs119103254
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.1475G>A (p.Trp492Ter)
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.152A>G (p.Asp51Gly) rs397514631
NM_005609.4(PYGM):c.152ACT[2] (p.Tyr53del) rs1325298827
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.1621G>T (p.Glu541Ter) rs119103257
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.1722T>G (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1725del (p.Lys575fs) rs786200874
NM_005609.4(PYGM):c.1761_1765del (p.Tyr588fs)
NM_005609.4(PYGM):c.1774A>T (p.Lys592Ter) rs2135830163
NM_005609.4(PYGM):c.1797del (p.Phe599fs) rs769960481
NM_005609.4(PYGM):c.1853dup (p.Met619fs) rs2135829844
NM_005609.4(PYGM):c.1860del (p.Ile621fs)
NM_005609.4(PYGM):c.1948del (p.Arg650fs) rs2058354383
NM_005609.4(PYGM):c.1956_1962del (p.Leu653fs)
NM_005609.4(PYGM):c.1970-2A>T rs1064797157
NM_005609.4(PYGM):c.198del (p.Arg67fs) rs750857876
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
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.2075_2076del (p.Thr692fs) rs1592408302
NM_005609.4(PYGM):c.2075_2076delinsAAA (p.Thr692fs)
NM_005609.4(PYGM):c.2086dup (p.Ala696fs)
NM_005609.4(PYGM):c.2113_2114del (p.Gly705fs) rs2058347214
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.2380-1G>A rs1555133248
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.2448dup (p.Thr817fs) rs2135822512
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.370G>T (p.Glu124Ter) rs1555136459
NM_005609.4(PYGM):c.373del (p.Glu125fs) rs2135840482
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.425-2A>G rs752851284
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.772+2_772+3del
NM_005609.4(PYGM):c.773-2A>T
NM_005609.4(PYGM):c.776dup (p.Asn259fs)
NM_005609.4(PYGM):c.803del (p.Leu268fs)
NM_005609.4(PYGM):c.917dup (p.Asp307fs)
NM_005609.4(PYGM):c.922del (p.Ile308fs)
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs) rs1204045237
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter) rs796052424
NM_005670.4(EPM2A):c.322del (p.Arg108fs) rs2128614455
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter) rs587776553
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.953dup (p.Gln319fs) rs587776554
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.1151G>C (p.Arg384Thr) rs730882148
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_016203.4(PRKAG2):c.997T>C (p.Ser333Pro)
NM_021957.4(GYS2):c.1094_1098del (p.Phe365fs) rs2136877292
NM_021957.4(GYS2):c.1336C>G (p.His446Asp) rs121918425
NM_021957.4(GYS2):c.13C>T (p.Arg5Ter)
NM_021957.4(GYS2):c.1413_1416del (p.Asp471fs)
NM_021957.4(GYS2):c.1447T>C (p.Ser483Pro) rs121918424
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg) rs121918422
NM_021957.4(GYS2):c.1690T>C (p.Cys564Arg) rs540215492
NM_021957.4(GYS2):c.376_377del (p.Asn126fs)
NM_021957.4(GYS2):c.465del (p.Phe155fs) rs763929651
NM_021957.4(GYS2):c.50dup (p.Trp18fs)
NM_021957.4(GYS2):c.522T>G (p.Tyr174Ter)
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) rs150382575
NM_021957.4(GYS2):c.941+1G>C rs587776831
NM_031229.4(RBCK1):c.1111dup (p.Cys371fs)
NM_031229.4(RBCK1):c.1112G>T (p.Cys371Phe) rs1555787599
NM_031229.4(RBCK1):c.1136G>A (p.Trp379Ter)
NM_031229.4(RBCK1):c.1154dup (p.Asp385fs)
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.724_727dup (p.Glu243fs) rs730880329
NM_031229.4(RBCK1):c.727G>T (p.Glu243Ter) rs727503765
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.936_945del (p.Ile313fs)
NM_031229.4(RBCK1):c.949C>T (p.Gln317Ter) rs2122281705
NM_031229.4(RBCK1):c.994_999del (p.Cys332_Ser333del) rs2122282189
NM_053013.4(ENO3):c.1037_1041dup (p.Gly348fs) rs1298530904
NM_053013.4(ENO3):c.1070G>A (p.Cys357Tyr) rs2151144481
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570
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.368G>A (p.Trp123Ter) rs1783750860
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.560A>C (p.His187Pro)
NM_198586.3(NHLRC1):c.583del (p.Asp195fs) rs2150703022
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
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.793C>T (p.Arg265Ter) rs121917875
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
NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala) rs137852859
NM_198586.3(NHLRC1):c.940_943dup (p.Tyr315fs)
NM_198586.3(NHLRC1):c.98T>C (p.Phe33Ser)
NM_198586.3(NHLRC1):c.992del (p.Gly331fs) rs587776543
PGK1, IVS4, G-T, 417+1
SLC2A2, 1-BP INS, 793C
Single allele
c.[708G>C]+[784C>T]
c.[c.38dupA]+[1571G>A]

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