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
|
|