NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)
|
rs80356487
|
0.00026
|
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.328G>A (p.Glu110Lys)
|
rs104894567
|
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_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_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
|
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_000017.11:g.(?_42900800)_(42904229_?)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.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.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.626A>G (p.Tyr209Cys)
|
rs2056091436
|
|
NM_000151.4(G6PC1):c.662dup (p.Gly222fs)
|
|
|
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)
|
rs1410392732
|
|
NM_000151.4(G6PC1):c.69C>G (p.Tyr23Ter)
|
|
|
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
|
rs2056092151
|
|
NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter)
|
rs2151932291
|
|
NM_000151.4(G6PC1):c.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.788del (p.Lys263fs)
|
|
|
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys)
|
rs1555560149
|
|
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)
|
rs1057516367
|
|
NM_000151.4(G6PC1):c.79del (p.Gln27fs)
|
rs80356479
|
|
NM_000151.4(G6PC1):c.826_830del (p.Asn276fs)
|
|
|
NM_000151.4(G6PC1):c.858del (p.Lys287fs)
|
rs1057516858
|
|
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val)
|
rs1567706564
|
|
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)
|
rs780226142
|
|
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)
|
rs80356486
|
|