ClinVar Miner

List of variants studied for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 532
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.*1294C>A rs161620 0.81032
NM_000151.4(G6PC1):c.*2095T>A rs692180 0.74089
NM_000151.4(G6PC1):c.*23T>C rs2229611 0.73413
NM_000151.4(G6PC1):c.*2088A>T rs9902963 0.69330
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_000151.4(G6PC1):c.*877T>C rs72826982 0.03829
NM_000151.4(G6PC1):c.*727T>C rs80193931 0.02511
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628 0.02402
NM_000151.4(G6PC1):c.*745G>T rs116897758 0.01352
NM_000151.4(G6PC1):c.*1012C>T rs75063448 0.01164
NM_000151.4(G6PC1):c.*1210C>G rs144568330 0.00921
NM_000151.4(G6PC1):c.-77G>A rs145752565 0.00919
NM_000151.4(G6PC1):c.*250G>A rs143802152 0.00850
NM_000151.4(G6PC1):c.*2723G>A rs146698137 0.00848
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_000151.4(G6PC1):c.*2474C>T rs143133684 0.00732
NM_000151.4(G6PC1):c.*2532G>A rs76156285 0.00628
NM_000151.4(G6PC1):c.*1454C>T rs148453821 0.00598
NM_000151.4(G6PC1):c.340+42C>T rs116797100 0.00549
NM_000151.4(G6PC1):c.*2184T>A rs146025743 0.00450
NM_000151.4(G6PC1):c.*2975A>T rs145828729 0.00335
NM_000151.4(G6PC1):c.*2418G>C rs115371692 0.00224
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser) rs201961848 0.00176
NM_000151.4(G6PC1):c.-45G>A rs367816430 0.00137
NM_000151.4(G6PC1):c.*120G>A rs150477898 0.00126
NM_000151.4(G6PC1):c.*986A>T rs370935410 0.00124
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00124
NM_000151.4(G6PC1):c.*1039G>T rs549474805 0.00089
NM_000151.4(G6PC1):c.*3G>A rs191399793 0.00088
NM_000151.4(G6PC1):c.*1400G>A rs113536060 0.00087
NM_000151.4(G6PC1):c.562+10G>A rs199505156 0.00087
NM_000151.4(G6PC1):c.*2800G>A rs886052967 0.00079
NM_000151.4(G6PC1):c.*1986T>C rs542411157 0.00053
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085 0.00036
NM_000151.4(G6PC1):c.*1981C>T rs573802724 0.00034
NM_000151.4(G6PC1):c.*24A>C rs377739870 0.00034
NM_000151.4(G6PC1):c.*556C>T rs533491939 0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000151.4(G6PC1):c.340+20C>T rs183285298 0.00031
NM_000151.4(G6PC1):c.*1970A>G rs192778595 0.00026
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218 0.00021
NM_000151.4(G6PC1):c.*17G>A rs34537381 0.00019
NM_000151.4(G6PC1):c.81G>C (p.Gln27His) rs371611000 0.00019
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486 0.00019
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=) rs143991162 0.00018
NM_000151.4(G6PC1):c.*2133C>T rs183542930 0.00014
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00014
NM_000151.4(G6PC1):c.942C>G (p.Pro314=) rs141352548 0.00014
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847 0.00014
NM_000151.4(G6PC1):c.*1304G>A rs549833149 0.00013
NM_000151.4(G6PC1):c.793C>G (p.Leu265Val) rs140224951 0.00012
NM_000151.4(G6PC1):c.948C>A (p.Ser316=) rs137978566 0.00012
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469 0.00011
NM_000151.4(G6PC1):c.*1652C>T rs765883953 0.00010
NM_000151.4(G6PC1):c.*1324C>T rs548787621 0.00009
NM_000151.4(G6PC1):c.657C>T (p.Phe219=) rs201520075 0.00008
NM_000151.4(G6PC1):c.*680G>A rs973632286 0.00007
NM_000151.4(G6PC1):c.*119C>T rs886052957 0.00006
NM_000151.4(G6PC1):c.*607G>A rs886052960 0.00006
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516 0.00006
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser) rs369472089 0.00006
NM_000151.4(G6PC1):c.340+13del rs781668568 0.00006
NM_000151.4(G6PC1):c.*103C>T rs1032152255 0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) rs764920787 0.00005
NM_000151.4(G6PC1):c.786C>T (p.Leu262=) rs138509513 0.00005
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn) rs750711451 0.00005
NM_000151.4(G6PC1):c.969C>T (p.Tyr323=) rs780226142 0.00005
NM_000151.4(G6PC1):c.*1513C>T rs374021788 0.00004
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197 0.00004
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567 0.00004
NM_000151.4(G6PC1):c.354C>G (p.Gly118=) rs766771010 0.00004
NM_000151.4(G6PC1):c.447G>A (p.Arg149=) rs549712764 0.00004
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met) rs145296477 0.00004
NM_000151.4(G6PC1):c.804C>T (p.Leu268=) rs377077333 0.00004
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn) rs387906505 0.00003
NM_000151.4(G6PC1):c.220G>A (p.Val74Ile) rs751959283 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_000151.4(G6PC1):c.582T>C (p.Thr194=) rs754345839 0.00003
NM_000151.4(G6PC1):c.870G>A (p.Lys290=) rs368041878 0.00003
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258 0.00003
NM_000151.4(G6PC1):c.*1311G>A rs1395262885 0.00002
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) rs776022311 0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816 0.00002
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp) rs759982943 0.00002
NM_000151.4(G6PC1):c.431C>T (p.Pro144Leu) rs1470923557 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.553G>A (p.Val185Ile) rs766230068 0.00002
NM_000151.4(G6PC1):c.563-6A>G rs2056090751 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000151.4(G6PC1):c.66T>C (p.Asn22=) rs766886771 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_000151.4(G6PC1):c.922G>A (p.Val308Ile) rs774448424 0.00002
NM_000151.4(G6PC1):c.960G>T (p.Leu320=) rs531727073 0.00002
NM_000151.4(G6PC1):c.*1671C>T rs568149292 0.00001
NM_000151.4(G6PC1):c.*211T>C rs886052958 0.00001
NM_000151.4(G6PC1):c.*2134G>A rs886052963 0.00001
NM_000151.4(G6PC1):c.*2847T>C rs139115520 0.00001
NM_000151.4(G6PC1):c.*2981G>T rs886052968 0.00001
NM_000151.4(G6PC1):c.1011C>T (p.Ser337=) rs373605105 0.00001
NM_000151.4(G6PC1):c.1026C>T (p.Pro342=) rs2056095342 0.00001
NM_000151.4(G6PC1):c.1029C>T (p.Tyr343=) rs1019836830 0.00001
NM_000151.4(G6PC1):c.102C>T (p.Ser34=) rs747426958 0.00001
NM_000151.4(G6PC1):c.1035C>T (p.Leu345=) rs750975981 0.00001
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877 0.00001
NM_000151.4(G6PC1):c.108C>T (p.Ile36=) rs148461633 0.00001
NM_000151.4(G6PC1):c.109G>A (p.Ala37Thr) rs781064575 0.00001
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) rs1057517008 0.00001
NM_000151.4(G6PC1):c.175A>G (p.Ile59Val) rs774215572 0.00001
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter) rs1567702823 0.00001
NM_000151.4(G6PC1):c.215A>G (p.Asn72Ser) rs753502076 0.00001
NM_000151.4(G6PC1):c.219C>A (p.Leu73=) rs373545775 0.00001
NM_000151.4(G6PC1):c.225T>C (p.Phe75=) rs781714941 0.00001
NM_000151.4(G6PC1):c.231-12G>A rs373908549 0.00001
NM_000151.4(G6PC1):c.231-1G>A rs1555559279 0.00001
NM_000151.4(G6PC1):c.231-3T>C rs1233172989 0.00001
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176 0.00001
NM_000151.4(G6PC1):c.294C>T (p.Ser98=) rs777452219 0.00001
NM_000151.4(G6PC1):c.324C>G (p.Thr108=) rs1282008398 0.00001
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955 0.00001
NM_000151.4(G6PC1):c.340+7G>A rs570199529 0.00001
NM_000151.4(G6PC1):c.341-12C>T rs774885342 0.00001
NM_000151.4(G6PC1):c.355C>T (p.His119Tyr) rs1332616844 0.00001
NM_000151.4(G6PC1):c.356A>G (p.His119Arg) rs1401928680 0.00001
NM_000151.4(G6PC1):c.357T>C (p.His119=) rs562533427 0.00001
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568 0.00001
NM_000151.4(G6PC1):c.384C>T (p.Tyr128=) rs764401169 0.00001
NM_000151.4(G6PC1):c.447-1G>A rs1411037881 0.00001
NM_000151.4(G6PC1):c.447-4G>A rs756002909 0.00001
NM_000151.4(G6PC1):c.453G>A (p.Leu151=) rs369892096 0.00001
NM_000151.4(G6PC1):c.45A>C (p.Ser15=) rs1394010585 0.00001
NM_000151.4(G6PC1):c.490C>T (p.Leu164=) rs987462071 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.532C>T (p.Pro178Ser) rs763543607 0.00001
NM_000151.4(G6PC1):c.562+7G>A rs2056082387 0.00001
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795 0.00001
NM_000151.4(G6PC1):c.642C>T (p.Phe214=) rs1237769909 0.00001
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229 0.00001
NM_000151.4(G6PC1):c.699C>T (p.Asp233=) rs1285837426 0.00001
NM_000151.4(G6PC1):c.723C>T (p.Ala241=) rs762967975 0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485 0.00001
NM_000151.4(G6PC1):c.726G>A (p.Gln242=) rs9905900 0.00001
NM_000151.4(G6PC1):c.757del (p.Ile253fs) rs2056092619 0.00001
NM_000151.4(G6PC1):c.780C>T (p.Ser260=) rs748610705 0.00001
NM_000151.4(G6PC1):c.798del (p.Thr267fs) rs749323139 0.00001
NM_000151.4(G6PC1):c.801G>A (p.Thr267=) rs755630386 0.00001
NM_000151.4(G6PC1):c.808G>C (p.Gly270Arg) rs1272803483 0.00001
NM_000151.4(G6PC1):c.822T>C (p.Ala274=) rs761361643 0.00001
NM_000151.4(G6PC1):c.830C>A (p.Ser277Tyr) rs750048146 0.00001
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748 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_000151.4(G6PC1):c.888C>G (p.Leu296=) rs1266860369 0.00001
NM_000151.4(G6PC1):c.895A>G (p.Ile299Val) rs1310542864 0.00001
NM_000151.4(G6PC1):c.921C>T (p.His307=) rs2056094089 0.00001
NM_000151.4(G6PC1):c.961G>A (p.Val321Ile) rs756241523 0.00001
NC_000017.10:g.(?_41052894)_(41053143_?)dup
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.(?_41059520)_(41063443_?)dup
NC_000017.10:g.(?_41059530)_(41059655_?)del
NC_000017.10:g.(?_41061310)_(41061445_?)dup
NC_000017.11:g.(?_42900800)_(42904229_?)del
NC_000017.11:g.42910915_42911427del rs2056090806
NM_000151.4(G6PC1):c.*1458C>T rs2056105397
NM_000151.4(G6PC1):c.*1466T>C rs2056105442
NM_000151.4(G6PC1):c.*1514G>A rs111309126
NM_000151.4(G6PC1):c.*1527C>T rs966575521
NM_000151.4(G6PC1):c.*1550G>T rs1324359967
NM_000151.4(G6PC1):c.*1552A>T rs138968865
NM_000151.4(G6PC1):c.*1640G>T rs556943624
NM_000151.4(G6PC1):c.*1901A>G rs2056108046
NM_000151.4(G6PC1):c.*2081T>A rs2056108904
NM_000151.4(G6PC1):c.*2501C>G rs886052964
NM_000151.4(G6PC1):c.*2519G>T rs886052965
NM_000151.4(G6PC1):c.*251C>T rs753206089
NM_000151.4(G6PC1):c.*2611C>T rs186556135
NM_000151.4(G6PC1):c.*2857C>T rs2056113291
NM_000151.4(G6PC1):c.*286A>G rs886052959
NM_000151.4(G6PC1):c.*2980A>G rs2056113916
NM_000151.4(G6PC1):c.*492A>C rs532485841
NM_000151.4(G6PC1):c.*703G>A rs375295552
NM_000151.4(G6PC1):c.*714A>G rs886052961
NM_000151.4(G6PC1):c.*887T>C rs2056101326
NM_000151.4(G6PC1):c.1003C>T (p.Leu335=)
NM_000151.4(G6PC1):c.1004del (p.Leu335fs)
NM_000151.4(G6PC1):c.1005G>A (p.Leu335=)
NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu) rs2056095097
NM_000151.4(G6PC1):c.1008A>G (p.Ala336=)
NM_000151.4(G6PC1):c.1012G>A (p.Val338Ile) rs367727229
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.1014C>T (p.Val338=) rs2151932415
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.1020C>T (p.Val340=)
NM_000151.4(G6PC1):c.1023C>A (p.Ile341=) rs2056095309
NM_000151.4(G6PC1):c.1023C>T (p.Ile341=)
NM_000151.4(G6PC1):c.1035C>A (p.Leu345=)
NM_000151.4(G6PC1):c.1036G>A (p.Ala346Thr)
NM_000151.4(G6PC1):c.1037C>T (p.Ala346Val)
NM_000151.4(G6PC1):c.103G>A (p.Val35Met)
NM_000151.4(G6PC1):c.1042del (p.Val348fs)
NM_000151.4(G6PC1):c.1044C>G (p.Val348=) rs975072899
NM_000151.4(G6PC1):c.1047G>T (p.Leu349=) rs1209679697
NM_000151.4(G6PC1):c.1050C>A (p.Gly350=) rs2151932440
NM_000151.4(G6PC1):c.1051C>T (p.Gln351Ter) rs766448695
NM_000151.4(G6PC1):c.1055C>T (p.Pro352Leu)
NM_000151.4(G6PC1):c.1056G>C (p.Pro352=)
NM_000151.4(G6PC1):c.1056G>T (p.Pro352=)
NM_000151.4(G6PC1):c.1064A>G (p.Lys355Arg)
NM_000151.4(G6PC1):c.1065G>T (p.Lys355Asn) rs746978011
NM_000151.4(G6PC1):c.1066T>C (p.Ser356Pro)
NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter) rs1555560217
NM_000151.4(G6PC1):c.1070_1072del (p.Leu357del)
NM_000151.4(G6PC1):c.114C>T (p.Asp38=) rs2151929114
NM_000151.4(G6PC1):c.121A>G (p.Asn41Asp)
NM_000151.4(G6PC1):c.126C>A (p.Ala42=)
NM_000151.4(G6PC1):c.126C>T (p.Ala42=)
NM_000151.4(G6PC1):c.127T>C (p.Phe43Leu)
NM_000151.4(G6PC1):c.132C>G (p.Tyr44Ter)
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile) rs145749644
NM_000151.4(G6PC1):c.133G>C (p.Val45Leu)
NM_000151.4(G6PC1):c.135C>A (p.Val45=)
NM_000151.4(G6PC1):c.136del (p.Leu46fs) rs1057517227
NM_000151.4(G6PC1):c.141C>G (p.Phe47Leu)
NM_000151.4(G6PC1):c.141C>T (p.Phe47=) rs1597986869
NM_000151.4(G6PC1):c.142C>T (p.Pro48Ser)
NM_000151.4(G6PC1):c.144C>T (p.Pro48=) rs2151929134
NM_000151.4(G6PC1):c.147C>T (p.Ile49=)
NM_000151.4(G6PC1):c.14T>A (p.Met5Lys)
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC1):c.155A>T (p.His52Leu)
NM_000151.4(G6PC1):c.156T>C (p.His52=)
NM_000151.4(G6PC1):c.15G>A (p.Met5Ile)
NM_000151.4(G6PC1):c.15G>C (p.Met5Ile)
NM_000151.4(G6PC1):c.15G>T (p.Met5Ile)
NM_000151.4(G6PC1):c.160_224dup (p.Phe75_Lys76insArgLysLeuTrpAlaLeuAsnSerPheGlyTer) rs2151929143
NM_000151.4(G6PC1):c.167C>A (p.Ala56Asp)
NM_000151.4(G6PC1):c.172G>A (p.Gly58Ser)
NM_000151.4(G6PC1):c.189G>C (p.Trp63Cys)
NM_000151.4(G6PC1):c.18T>A (p.Asn6Lys) rs144652516
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro) rs369472089
NM_000151.4(G6PC1):c.195T>A (p.Ala65=)
NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg) rs1567702819
NM_000151.4(G6PC1):c.208del (p.Trp70fs) rs2056023141
NM_000151.4(G6PC1):c.209G>C (p.Trp70Ser) rs1567702823
NM_000151.4(G6PC1):c.211del (p.Leu71fs)
NM_000151.4(G6PC1):c.216C>T (p.Asn72=) rs2151929168
NM_000151.4(G6PC1):c.219C>T (p.Leu73=) rs373545775
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+10A>G
NM_000151.4(G6PC1):c.230+11T>C rs756151664
NM_000151.4(G6PC1):c.230+13T>C
NM_000151.4(G6PC1):c.230+14A>G rs780134732
NM_000151.4(G6PC1):c.230+16A>G
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.230+8C>T
NM_000151.4(G6PC1):c.230+9C>A
NM_000151.4(G6PC1):c.231-10T>C
NM_000151.4(G6PC1):c.231-15T>C
NM_000151.4(G6PC1):c.231-17G>T
NM_000151.4(G6PC1):c.231-20C>G
NM_000151.4(G6PC1):c.231-4A>G rs1200297208
NM_000151.4(G6PC1):c.231-5C>T rs1332657768
NM_000151.4(G6PC1):c.231-7T>C
NM_000151.4(G6PC1):c.231-8T>A rs2151929984
NM_000151.4(G6PC1):c.231G>A (p.Trp77Ter)
NM_000151.4(G6PC1):c.234T>C (p.Ile78=)
NM_000151.4(G6PC1):c.238T>A (p.Phe80Ile)
NM_000151.4(G6PC1):c.239T>C (p.Phe80Ser)
NM_000151.4(G6PC1):c.240T>C (p.Phe80=)
NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg) rs756632286
NM_000151.4(G6PC1):c.246G>A (p.Gln82=) rs1026799180
NM_000151.4(G6PC1):c.247C>A (p.Arg83Ser)
NM_000151.4(G6PC1):c.250C>T (p.Pro84Ser)
NM_000151.4(G6PC1):c.252A>G (p.Pro84=) rs148967047
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter) rs748363083
NM_000151.4(G6PC1):c.255C>T (p.Tyr85=) rs748363083
NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg) rs2056043139
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.269A>G (p.Asp90Gly)
NM_000151.4(G6PC1):c.273T>G (p.Thr91=) rs2151930014
NM_000151.4(G6PC1):c.278del (p.Tyr93fs)
NM_000151.4(G6PC1):c.279C>A (p.Tyr93Ter)
NM_000151.4(G6PC1):c.27T>A (p.His9Gln)
NM_000151.4(G6PC1):c.285C>T (p.Ser95=) rs1344809349
NM_000151.4(G6PC1):c.295G>A (p.Val99Met)
NM_000151.4(G6PC1):c.297G>A (p.Val99=)
NM_000151.4(G6PC1):c.297G>T (p.Val99=)
NM_000151.4(G6PC1):c.302del (p.Leu101fs) rs2151930031
NM_000151.4(G6PC1):c.305T>A (p.Ile102Lys)
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter) rs2056043532
NM_000151.4(G6PC1):c.315C>T (p.Phe105=) rs2151930034
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.338C>T (p.Pro113Leu)
NM_000151.4(G6PC1):c.340+10C>T
NM_000151.4(G6PC1):c.340+14C>T
NM_000151.4(G6PC1):c.340+7G>C
NM_000151.4(G6PC1):c.340+7G>T rs570199529
NM_000151.4(G6PC1):c.340+8T>A
NM_000151.4(G6PC1):c.340+9C>T
NM_000151.4(G6PC1):c.341-18C>A
NM_000151.4(G6PC1):c.341-6C>T
NM_000151.4(G6PC1):c.341-7_356del
NM_000151.4(G6PC1):c.341-8C>A
NM_000151.4(G6PC1):c.341-8C>G
NM_000151.4(G6PC1):c.341-8C>T
NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu) rs544563908
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala) rs544563908
NM_000151.4(G6PC1):c.342G>T (p.Gly114=)
NM_000151.4(G6PC1):c.352G>A (p.Gly118Ser) rs761007323
NM_000151.4(G6PC1):c.354C>T (p.Gly118=)
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.360C>T (p.Ala120=) rs2151931156
NM_000151.4(G6PC1):c.361A>G (p.Met121Val) rs1555559733
NM_000151.4(G6PC1):c.362T>C (p.Met121Thr)
NM_000151.4(G6PC1):c.365G>T (p.Gly122Val) rs759982943
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys) rs765306500
NM_000151.4(G6PC1):c.368C>T (p.Thr123Ile) rs765306500
NM_000151.4(G6PC1):c.369A>G (p.Thr123=)
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter) rs1555559741
NM_000151.4(G6PC1):c.381C>T (p.Tyr127=) rs1555559741
NM_000151.4(G6PC1):c.383A>G (p.Tyr128Cys) rs2056069622
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.395C>T (p.Thr132Ile)
NM_000151.4(G6PC1):c.396A>G (p.Thr132=)
NM_000151.4(G6PC1):c.399T>C (p.Ser133=)
NM_000151.4(G6PC1):c.402T>C (p.Thr134=) rs2151931180
NM_000151.4(G6PC1):c.403_404del (p.Leu135fs) rs2151931178
NM_000151.4(G6PC1):c.405T>C (p.Leu135=) rs2151931181
NM_000151.4(G6PC1):c.408C>T (p.Ser136=)
NM_000151.4(G6PC1):c.42G>A (p.Gln14=) rs763922040
NM_000151.4(G6PC1):c.432G>C (p.Pro144=)
NM_000151.4(G6PC1):c.435C>G (p.Thr145=) rs745770086
NM_000151.4(G6PC1):c.435C>T (p.Thr145=)
NM_000151.4(G6PC1):c.440G>A (p.Arg147Lys)
NM_000151.4(G6PC1):c.445C>T (p.Arg149Trp)
NM_000151.4(G6PC1):c.446+17G>A
NM_000151.4(G6PC1):c.446+19G>A
NM_000151.4(G6PC1):c.446+19G>T
NM_000151.4(G6PC1):c.446+1G>C rs1597989983
NM_000151.4(G6PC1):c.446+20G>A
NM_000151.4(G6PC1):c.446+20G>T
NM_000151.4(G6PC1):c.446+2T>C rs1597989985
NM_000151.4(G6PC1):c.446+7A>C rs1003569893
NM_000151.4(G6PC1):c.446G>A (p.Arg149Gln)
NM_000151.4(G6PC1):c.447-1G>C
NM_000151.4(G6PC1):c.447-6T>C rs1597990833
NM_000151.4(G6PC1):c.450C>T (p.Cys150=)
NM_000151.4(G6PC1):c.450del (p.Cys150_Leu151insTer) rs2151931733
NM_000151.4(G6PC1):c.456T>C (p.Asn152=) rs1271832382
NM_000151.4(G6PC1):c.459C>T (p.Val153=) rs747740866
NM_000151.4(G6PC1):c.45A>G (p.Ser15=) rs1394010585
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.469T>C (p.Leu157=)
NM_000151.4(G6PC1):c.471G>A (p.Leu157=)
NM_000151.4(G6PC1):c.473G>A (p.Gly158Glu) rs2151931742
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter) rs2056081522
NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg) rs1555558914
NM_000151.4(G6PC1):c.480G>A (p.Trp160Ter)
NM_000151.4(G6PC1):c.486G>A (p.Val162=)
NM_000151.4(G6PC1):c.48A>C (p.Thr16=)
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.497T>G (p.Val166Gly) rs104894571
NM_000151.4(G6PC1):c.499dup (p.Cys167fs) rs1057516630
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.526C>T (p.His176Tyr) rs1597990906
NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs) rs1555558920
NM_000151.4(G6PC1):c.532C>G (p.Pro178Ala)
NM_000151.4(G6PC1):c.534T>C (p.Pro178=) rs774585761
NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter) rs1597990921
NM_000151.4(G6PC1):c.549T>C (p.Ala183=) rs375921716
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.562+11A>C
NM_000151.4(G6PC1):c.562+19C>T
NM_000151.4(G6PC1):c.562+25_562+28del
NM_000151.4(G6PC1):c.562+4T>A
NM_000151.4(G6PC1):c.562+9T>C rs1263744036
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.563-18A>G
NM_000151.4(G6PC1):c.563-18A>T
NM_000151.4(G6PC1):c.563-3C>G rs1597991608
NM_000151.4(G6PC1):c.563-3C>T rs1597991608
NM_000151.4(G6PC1):c.563-5C>T rs1246163955
NM_000151.4(G6PC1):c.563-8C>T
NM_000151.4(G6PC1):c.563G>A (p.Gly188Asp)
NM_000151.4(G6PC1):c.570T>C (p.Ala190=) rs753671536
NM_000151.4(G6PC1):c.577G>C (p.Glu193Gln) rs886052956
NM_000151.4(G6PC1):c.57C>T (p.Leu19=)
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala) rs1597991619
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.600C>T (p.Ser200=) rs2151932246
NM_000151.4(G6PC1):c.606T>C (p.Tyr202=) rs1555560103
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer) rs2056021430
NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys) rs2056091436
NM_000151.4(G6PC1):c.633C>T (p.Leu211=)
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val) rs756944737
NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe) rs756944737
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu) rs780212338
NM_000151.4(G6PC1):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC1):c.662dup (p.Gly222fs)
NM_000151.4(G6PC1):c.663C>T (p.Ile221=) rs747134498
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg) rs1410392732
NM_000151.4(G6PC1):c.665G>A (p.Gly222Glu) rs515726229
NM_000151.4(G6PC1):c.673C>T (p.Leu225=)
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) rs1555560128
NM_000151.4(G6PC1):c.678G>C (p.Leu226=)
NM_000151.4(G6PC1):c.685G>A (p.Gly229Arg)
NM_000151.4(G6PC1):c.693T>C (p.Gly231=)
NM_000151.4(G6PC1):c.69C>G (p.Tyr23Ter)
NM_000151.4(G6PC1):c.69C>T (p.Tyr23=)
NM_000151.4(G6PC1):c.6_7delinsAA (p.Glu3Lys) rs2151929052
NM_000151.4(G6PC1):c.702C>G (p.Leu234=) rs1356828030
NM_000151.4(G6PC1):c.702C>T (p.Leu234=)
NM_000151.4(G6PC1):c.705G>A (p.Leu235=) rs1233768137
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg) rs2056092151
NM_000151.4(G6PC1):c.706T>G (p.Trp236Gly)
NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter) rs1457925404
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.729G>A (p.Arg243=)
NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter) rs1555560140
NM_000151.4(G6PC1):c.732G>A (p.Trp244Ter)
NM_000151.4(G6PC1):c.735C>A (p.Cys245Ter)
NM_000151.4(G6PC1):c.735C>T (p.Cys245=)
NM_000151.4(G6PC1):c.736G>A (p.Glu246Lys)
NM_000151.4(G6PC1):c.742_745del (p.Pro248fs)
NM_000151.4(G6PC1):c.747A>G (p.Glu249=)
NM_000151.4(G6PC1):c.750G>A (p.Trp250Ter) rs140869027
NM_000151.4(G6PC1):c.753C>A (p.Val251=) rs1422424986
NM_000151.4(G6PC1):c.753C>T (p.Val251=) rs1422424986
NM_000151.4(G6PC1):c.762C>T (p.Asp254=)
NM_000151.4(G6PC1):c.764C>A (p.Thr255Asn)
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile) rs2056092654
NM_000151.4(G6PC1):c.765C>T (p.Thr255=) rs1555560144
NM_000151.4(G6PC1):c.770C>A (p.Pro257His) rs1597991733
NM_000151.4(G6PC1):c.771C>T (p.Pro257=)
NM_000151.4(G6PC1):c.780C>A (p.Ser260Arg) rs748610705
NM_000151.4(G6PC1):c.781CTC[1] (p.Leu262del) rs1305819623
NM_000151.4(G6PC1):c.783C>T (p.Leu261=)
NM_000151.4(G6PC1):c.786C>G (p.Leu262=)
NM_000151.4(G6PC1):c.788del (p.Lys263fs)
NM_000151.4(G6PC1):c.789G>A (p.Lys263=)
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.792C>T (p.Asn264=)
NM_000151.4(G6PC1):c.796G>A (p.Gly266Ser) rs2151932313
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter) rs1057516367
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.800C>G (p.Thr267Arg)
NM_000151.4(G6PC1):c.801G>T (p.Thr267=) rs755630386
NM_000151.4(G6PC1):c.809G>A (p.Gly270Asp)
NM_000151.4(G6PC1):c.810C>G (p.Gly270=)
NM_000151.4(G6PC1):c.811C>T (p.Leu271=) rs2151932325
NM_000151.4(G6PC1):c.813G>C (p.Leu271=)
NM_000151.4(G6PC1):c.816G>A (p.Gly272=)
NM_000151.4(G6PC1):c.816G>T (p.Gly272=) rs762728678
NM_000151.4(G6PC1):c.820G>A (p.Ala274Thr) rs764084156
NM_000151.4(G6PC1):c.826_830del (p.Asn276fs)
NM_000151.4(G6PC1):c.836T>C (p.Met279Thr)
NM_000151.4(G6PC1):c.846G>A (p.Glu282=) rs374980545
NM_000151.4(G6PC1):c.855G>A (p.Lys285=)
NM_000151.4(G6PC1):c.856G>A (p.Gly286Arg)
NM_000151.4(G6PC1):c.858del (p.Lys287fs) rs1057516858
NM_000151.4(G6PC1):c.85T>A (p.Trp29Arg)
NM_000151.4(G6PC1):c.891C>T (p.Ser297=)
NM_000151.4(G6PC1):c.896T>C (p.Ile299Thr)
NM_000151.4(G6PC1):c.903C>T (p.Ala301=)
NM_000151.4(G6PC1):c.909C>G (p.Leu303=)
NM_000151.4(G6PC1):c.918G>A (p.Leu306=)
NM_000151.4(G6PC1):c.91A>T (p.Ile31Phe)
NM_000151.4(G6PC1):c.927T>C (p.Phe309=)
NM_000151.4(G6PC1):c.928G>A (p.Asp310Asn)
NM_000151.4(G6PC1):c.92T>A (p.Ile31Asn) rs538960604
NM_000151.4(G6PC1):c.930C>T (p.Asp310=) rs1454392916
NM_000151.4(G6PC1):c.93C>T (p.Ile31=)
NM_000151.4(G6PC1):c.944C>T (p.Pro315Leu)
NM_000151.4(G6PC1):c.945A>G (p.Pro315=) rs2056094359
NM_000151.4(G6PC1):c.948C>T (p.Ser316=)
NM_000151.4(G6PC1):c.94T>C (p.Leu32=) rs1185147855
NM_000151.4(G6PC1):c.952_953insGT (p.Val318fs) rs1555560185
NM_000151.4(G6PC1):c.954C>A (p.Val318=)
NM_000151.4(G6PC1):c.954C>T (p.Val318=) rs372612424
NM_000151.4(G6PC1):c.957G>A (p.Glu319=)
NM_000151.4(G6PC1):c.960G>A (p.Leu320=)
NM_000151.4(G6PC1):c.964T>C (p.Phe322Leu)
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val) rs1567706564
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr) rs863224022
NM_000151.4(G6PC1):c.966C>A (p.Phe322Leu)
NM_000151.4(G6PC1):c.966C>T (p.Phe322=) rs1399520060
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC1):c.970G>A (p.Val324Ile)
NM_000151.4(G6PC1):c.977C>G (p.Ser326Cys)
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
NM_000151.4(G6PC1):c.98T>A (p.Val33Glu)
NM_000151.4(G6PC1):c.990T>G (p.Ser330Arg) rs748053431
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) rs369238258
NM_000151.4(G6PC1):c.999G>A (p.Val333=) rs2151932408
NM_000151.4(G6PC1):c.9A>G (p.Glu3=) rs2151929054
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) rs1221156663

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