NM_006516.4(SLC2A1):c.45C>T (p.Ala15=)
|
rs1385129
|
0.21537
|
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=)
|
rs11537641
|
0.16943
|
NM_006516.4(SLC2A1):c.966C>T (p.Val322=)
|
rs2229680
|
0.06553
|
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)
|
rs2228490
|
0.04552
|
NM_006516.4(SLC2A1):c.19-207T>C
|
rs41310434
|
0.01173
|
NM_006516.4(SLC2A1):c.973-17A>G
|
rs111596088
|
0.01025
|
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=)
|
rs144538918
|
0.00517
|
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=)
|
rs75485205
|
0.00267
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=)
|
rs115541691
|
0.00102
|
NM_006516.4(SLC2A1):c.680-12C>T
|
rs150960456
|
0.00088
|
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=)
|
rs2236574
|
0.00081
|
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=)
|
rs140825318
|
0.00073
|
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=)
|
rs13306758
|
0.00070
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
|
rs146879902
|
0.00065
|
NM_006516.4(SLC2A1):c.276-7T>C
|
rs369273744
|
0.00063
|
NM_006516.4(SLC2A1):c.275+17C>T
|
rs761669510
|
0.00061
|
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=)
|
rs150384629
|
0.00047
|
NM_006516.4(SLC2A1):c.498C>T (p.Val166=)
|
rs150971143
|
0.00036
|
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys)
|
rs148518827
|
0.00031
|
NM_006516.4(SLC2A1):c.1216G>A (p.Val406Ile)
|
rs148800393
|
0.00026
|
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys)
|
rs200247956
|
0.00022
|
NM_006516.4(SLC2A1):c.972+17T>A
|
rs202140308
|
0.00017
|
NM_006516.4(SLC2A1):c.276-11C>T
|
rs376422395
|
0.00016
|
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=)
|
rs144685583
|
0.00016
|
NM_006516.4(SLC2A1):c.972+7del
|
rs531385270
|
0.00016
|
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His)
|
rs149998596
|
0.00014
|
NM_006516.4(SLC2A1):c.517-18G>A
|
rs372553463
|
0.00013
|
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)
|
rs5811
|
0.00013
|
NM_006516.4(SLC2A1):c.18G>A (p.Lys6=)
|
rs577329624
|
0.00012
|
NM_006516.4(SLC2A1):c.1194T>C (p.Gly398=)
|
rs761121578
|
0.00010
|
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)
|
rs76672402
|
0.00010
|
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=)
|
rs137868589
|
0.00009
|
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=)
|
rs75852730
|
0.00008
|
NM_006516.4(SLC2A1):c.516+12C>T
|
rs781391853
|
0.00008
|
NM_006516.4(SLC2A1):c.543C>T (p.Gly181=)
|
rs377674001
|
0.00008
|
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=)
|
rs201989024
|
0.00008
|
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)
|
rs147319894
|
0.00007
|
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=)
|
rs763664146
|
0.00006
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
NM_006516.4(SLC2A1):c.1108G>A (p.Val370Met)
|
rs751573593
|
0.00006
|
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)
|
rs200828053
|
0.00006
|
NM_006516.4(SLC2A1):c.19-12G>A
|
rs372344816
|
0.00006
|
NM_006516.4(SLC2A1):c.19-5C>T
|
rs376653618
|
0.00006
|
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=)
|
rs539490455
|
0.00006
|
NM_006516.4(SLC2A1):c.799G>A (p.Ala267Thr)
|
rs199639208
|
0.00006
|
NM_006516.4(SLC2A1):c.276-8G>A
|
rs373084446
|
0.00005
|
NM_006516.4(SLC2A1):c.276-9C>T
|
rs529579952
|
0.00005
|
NM_006516.4(SLC2A1):c.1029C>T (p.Gly343=)
|
rs773112021
|
0.00004
|
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
|
rs769943554
|
0.00004
|
NM_006516.4(SLC2A1):c.114+18G>A
|
rs745580526
|
0.00004
|
NM_006516.4(SLC2A1):c.120C>T (p.Ile40=)
|
rs370523758
|
0.00004
|
NM_006516.4(SLC2A1):c.1250T>C (p.Ile417Thr)
|
rs144389023
|
0.00004
|
NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala)
|
rs748082803
|
0.00004
|
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser)
|
rs138139624
|
0.00004
|
NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr)
|
rs749067830
|
0.00004
|
NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met)
|
rs142986731
|
0.00004
|
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=)
|
rs780638574
|
0.00004
|
NM_006516.4(SLC2A1):c.276-19C>T
|
rs74945664
|
0.00004
|
NM_006516.4(SLC2A1):c.321C>T (p.Ala107=)
|
rs398124230
|
0.00004
|
NM_006516.4(SLC2A1):c.606C>T (p.Ile202=)
|
rs779779804
|
0.00004
|
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His)
|
rs374080633
|
0.00004
|
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=)
|
rs534113895
|
0.00004
|
NM_006516.4(SLC2A1):c.822C>T (p.Ile274=)
|
rs368242382
|
0.00004
|
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=)
|
rs55693364
|
0.00004
|
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met)
|
rs577667739
|
0.00003
|
NM_006516.4(SLC2A1):c.339G>A (p.Ser113=)
|
rs755571737
|
0.00003
|
NM_006516.4(SLC2A1):c.624C>G (p.Pro208=)
|
rs778522408
|
0.00003
|
NM_006516.4(SLC2A1):c.652C>T (p.Arg218Cys)
|
rs147249343
|
0.00003
|
NM_006516.4(SLC2A1):c.954G>A (p.Thr318=)
|
rs144831524
|
0.00003
|
NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln)
|
rs892715050
|
0.00002
|
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser)
|
rs796053245
|
0.00002
|
NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=)
|
rs145962512
|
0.00002
|
NM_006516.4(SLC2A1):c.1200T>C (p.Arg400=)
|
rs367864071
|
0.00002
|
NM_006516.4(SLC2A1):c.1278+11C>T
|
rs530669190
|
0.00002
|
NM_006516.4(SLC2A1):c.1278+9C>G
|
rs550156548
|
0.00002
|
NM_006516.4(SLC2A1):c.1287T>C (p.Cys429=)
|
rs373730619
|
0.00002
|
NM_006516.4(SLC2A1):c.130T>C (p.Tyr44His)
|
rs375881934
|
0.00002
|
NM_006516.4(SLC2A1):c.136C>G (p.Gln46Glu)
|
rs754791604
|
0.00002
|
NM_006516.4(SLC2A1):c.1438G>A (p.Glu480Lys)
|
rs756304012
|
0.00002
|
NM_006516.4(SLC2A1):c.1445T>C (p.Leu482Pro)
|
rs748340730
|
0.00002
|
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser)
|
rs765479065
|
0.00002
|
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)
|
rs74323945
|
0.00002
|
NM_006516.4(SLC2A1):c.387C>T (p.Ile129=)
|
rs751907207
|
0.00002
|
NM_006516.4(SLC2A1):c.495C>T (p.Val165=)
|
rs181115612
|
0.00002
|
NM_006516.4(SLC2A1):c.597G>T (p.Leu199=)
|
rs768472703
|
0.00002
|
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)
|
rs397514564
|
0.00002
|
NM_006516.4(SLC2A1):c.680-8C>T
|
rs1405199587
|
0.00002
|
NM_006516.4(SLC2A1):c.708C>T (p.Asp236=)
|
rs566497194
|
0.00002
|
NM_006516.4(SLC2A1):c.729G>A (p.Glu243=)
|
rs1007246725
|
0.00002
|
NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys)
|
rs766376173
|
0.00002
|
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=)
|
rs201996220
|
0.00002
|
NM_006516.4(SLC2A1):c.804C>T (p.Tyr268=)
|
rs1370873840
|
0.00002
|
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=)
|
rs776461617
|
0.00002
|
NM_006516.4(SLC2A1):c.946G>A (p.Val316Ile)
|
rs920394412
|
0.00002
|
NM_006516.4(SLC2A1):c.967G>A (p.Val323Met)
|
rs749426767
|
0.00002
|
NM_006516.4(SLC2A1):c.1024G>A (p.Ala342Thr)
|
rs763241827
|
0.00001
|
NM_006516.4(SLC2A1):c.1035G>A (p.Ala345=)
|
rs748617912
|
0.00001
|
NM_006516.4(SLC2A1):c.1050C>T (p.Leu350=)
|
rs1553155969
|
0.00001
|
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=)
|
rs372092107
|
0.00001
|
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr)
|
rs780529723
|
0.00001
|
NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=)
|
rs748983257
|
0.00001
|
NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=)
|
rs755679518
|
0.00001
|
NM_006516.4(SLC2A1):c.1097A>G (p.Tyr366Cys)
|
rs976075779
|
0.00001
|
NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=)
|
rs758184335
|
0.00001
|
NM_006516.4(SLC2A1):c.115-7C>A
|
rs368655032
|
0.00001
|
NM_006516.4(SLC2A1):c.1152C>T (p.Gly384=)
|
rs750237005
|
0.00001
|
NM_006516.4(SLC2A1):c.1171G>A (p.Val391Met)
|
rs764168088
|
0.00001
|
NM_006516.4(SLC2A1):c.123G>A (p.Glu41=)
|
rs769414573
|
0.00001
|
NM_006516.4(SLC2A1):c.1279-6T>C
|
rs771975654
|
0.00001
|
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile)
|
rs200819771
|
0.00001
|
NM_006516.4(SLC2A1):c.1303A>G (p.Ile435Val)
|
rs1407189135
|
0.00001
|
NM_006516.4(SLC2A1):c.1314T>C (p.Thr438=)
|
rs1406626319
|
0.00001
|
NM_006516.4(SLC2A1):c.1320C>G (p.Leu440=)
|
rs1303723497
|
0.00001
|
NM_006516.4(SLC2A1):c.1341C>T (p.Phe447=)
|
rs977758531
|
0.00001
|
NM_006516.4(SLC2A1):c.1389C>T (p.Ile463=)
|
rs376959589
|
0.00001
|
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)
|
rs201748668
|
0.00001
|
NM_006516.4(SLC2A1):c.1418G>A (p.Ser473Asn)
|
rs774241047
|
0.00001
|
NM_006516.4(SLC2A1):c.141A>G (p.Thr47=)
|
rs150863093
|
0.00001
|
NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=)
|
rs794726996
|
0.00001
|
NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu)
|
rs1159593580
|
0.00001
|
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His)
|
rs201815571
|
0.00001
|
NM_006516.4(SLC2A1):c.189G>A (p.Thr63=)
|
rs766043826
|
0.00001
|
NM_006516.4(SLC2A1):c.19-18T>C
|
rs368084101
|
0.00001
|
NM_006516.4(SLC2A1):c.19-4G>A
|
rs398124229
|
0.00001
|
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=)
|
rs762583668
|
0.00001
|
NM_006516.4(SLC2A1):c.213C>A (p.Ile71=)
|
rs769308394
|
0.00001
|
NM_006516.4(SLC2A1):c.266G>A (p.Arg89His)
|
rs370031715
|
0.00001
|
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)
|
rs267607061
|
0.00001
|
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln)
|
rs80359815
|
0.00001
|
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val)
|
rs753161833
|
0.00001
|
NM_006516.4(SLC2A1):c.318C>T (p.Ser106=)
|
rs760599149
|
0.00001
|
NM_006516.4(SLC2A1):c.31C>T (p.Arg11Cys)
|
rs1333609390
|
0.00001
|
NM_006516.4(SLC2A1):c.32G>A (p.Arg11His)
|
rs150921182
|
0.00001
|
NM_006516.4(SLC2A1):c.338C>T (p.Ser113Leu)
|
rs774348625
|
0.00001
|
NM_006516.4(SLC2A1):c.360G>A (p.Glu120=)
|
rs1236841575
|
0.00001
|
NM_006516.4(SLC2A1):c.374G>C (p.Gly125Ala)
|
rs781521534
|
0.00001
|
NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala)
|
rs987202561
|
0.00001
|
NM_006516.4(SLC2A1):c.457C>T (p.Arg153Cys)
|
rs1643479461
|
0.00001
|
NM_006516.4(SLC2A1):c.492C>T (p.Ile164=)
|
rs759617721
|
0.00001
|
NM_006516.4(SLC2A1):c.496G>A (p.Val166Ile)
|
rs770867924
|
0.00001
|
NM_006516.4(SLC2A1):c.50G>A (p.Gly17Glu)
|
rs1553156840
|
0.00001
|
NM_006516.4(SLC2A1):c.510C>T (p.Ile170=)
|
rs748156710
|
0.00001
|
NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr)
|
rs1017082606
|
0.00001
|
NM_006516.4(SLC2A1):c.559C>T (p.Pro187Ser)
|
rs1459390244
|
0.00001
|
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)
|
rs1050933017
|
0.00001
|
NM_006516.4(SLC2A1):c.607G>A (p.Val203Met)
|
rs758200582
|
0.00001
|
NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys)
|
rs1387203768
|
0.00001
|
NM_006516.4(SLC2A1):c.667C>A (p.Arg223=)
|
rs796053248
|
0.00001
|
NM_006516.4(SLC2A1):c.679+5G>A
|
rs771386274
|
0.00001
|
NM_006516.4(SLC2A1):c.680-10G>T
|
rs587784394
|
0.00001
|
NM_006516.4(SLC2A1):c.680-16C>T
|
rs752942175
|
0.00001
|
NM_006516.4(SLC2A1):c.680-17C>T
|
rs756274258
|
0.00001
|
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His)
|
rs139412383
|
0.00001
|
NM_006516.4(SLC2A1):c.696C>T (p.Arg232=)
|
rs770293853
|
0.00001
|
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg)
|
rs375853334
|
0.00001
|
NM_006516.4(SLC2A1):c.734A>G (p.Lys245Arg)
|
rs773788706
|
0.00001
|
NM_006516.4(SLC2A1):c.745C>T (p.Arg249Trp)
|
rs796053250
|
0.00001
|
NM_006516.4(SLC2A1):c.746G>A (p.Arg249Gln)
|
rs587784395
|
0.00001
|
NM_006516.4(SLC2A1):c.867+11C>T
|
rs749185363
|
0.00001
|
NM_006516.4(SLC2A1):c.899A>C (p.Lys300Thr)
|
rs764743728
|
0.00001
|
NM_006516.4(SLC2A1):c.902C>T (p.Ala301Val)
|
rs1425773776
|
0.00001
|
NM_006516.4(SLC2A1):c.907G>T (p.Val303Leu)
|
rs1205631854
|
0.00001
|
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=)
|
rs775408842
|
0.00001
|
NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met)
|
rs746091725
|
0.00001
|
NM_006516.4(SLC2A1):c.957C>A (p.Ala319=)
|
rs1643460439
|
0.00001
|
NM_006516.4(SLC2A1):c.972+20C>A
|
rs781545555
|
0.00001
|
NM_006516.4(SLC2A1):c.991G>A (p.Ala331Thr)
|
rs1040371265
|
0.00001
|
NC_000001.10:g.(?_43391628)_(43393369_?)del
|
|
|
NC_000001.10:g.(?_43392692)_(43424342_?)dup
|
|
|
NC_000001.10:g.(?_43392712)_(43396897_?)del
|
|
|
NC_000001.10:g.(?_43395244)_(43395726_?)del
|
|
|
NC_000001.10:g.(?_43424285)_(43424429_?)del
|
|
|
NC_000001.11:g.(?_42927021)_(42931226_?)del
|
|
|
NC_000001.11:g.(?_42928912)_(42943341_?)del
|
|
|
NC_000001.11:g.(?_42929853)_(42931226_?)del
|
|
|
NC_000001.11:g.(?_42958614)_(42958671_?)del
|
|
|
NC_000001.11:g.(?_42958614)_(42958671_?)dup
|
|
|
NM_006516.4(SLC2A1):c.-107G>A
|
rs2124478855
|
|
NM_006516.4(SLC2A1):c.1007T>C (p.Leu336Pro)
|
|
|
NM_006516.4(SLC2A1):c.1009C>T (p.His337Tyr)
|
|
|
NM_006516.4(SLC2A1):c.1010A>C (p.His337Pro)
|
|
|
NM_006516.4(SLC2A1):c.1011C>T (p.His337=)
|
rs2229681
|
|
NM_006516.4(SLC2A1):c.1012C>T (p.Leu338Phe)
|
|
|
NM_006516.4(SLC2A1):c.1017dup (p.Gly340fs)
|
rs2124447989
|
|
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)
|
rs80359812
|
|
NM_006516.4(SLC2A1):c.1023C>G (p.Leu341=)
|
rs143588685
|
|
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=)
|
rs143588685
|
|
NM_006516.4(SLC2A1):c.1029C>G (p.Gly343=)
|
rs773112021
|
|
NM_006516.4(SLC2A1):c.1038T>C (p.Gly346=)
|
|
|
NM_006516.4(SLC2A1):c.1042G>A (p.Ala348Thr)
|
rs1643456790
|
|
NM_006516.4(SLC2A1):c.1045A>G (p.Ile349Val)
|
|
|
NM_006516.4(SLC2A1):c.1047_1074+4dup
|
rs2124447873
|
|
NM_006516.4(SLC2A1):c.1048C>G (p.Leu350Val)
|
rs916926401
|
|
NM_006516.4(SLC2A1):c.1049T>C (p.Leu350Pro)
|
rs796053257
|
|
NM_006516.4(SLC2A1):c.104C>G (p.Ala35Gly)
|
|
|
NM_006516.4(SLC2A1):c.104C>T (p.Ala35Val)
|
rs773791632
|
|
NM_006516.4(SLC2A1):c.1052T>G (p.Met351Arg)
|
|
|
NM_006516.4(SLC2A1):c.1053G>A (p.Met351Ile)
|
rs1270248389
|
|
NM_006516.4(SLC2A1):c.1058T>C (p.Ile353Thr)
|
|
|
NM_006516.4(SLC2A1):c.105C>T (p.Ala35=)
|
|
|
NM_006516.4(SLC2A1):c.1064T>G (p.Leu355Arg)
|
rs1643456257
|
|
NM_006516.4(SLC2A1):c.1074+8_1074+9delinsTT
|
rs1553155966
|
|
NM_006516.4(SLC2A1):c.1075-14G>A
|
rs777450540
|
|
NM_006516.4(SLC2A1):c.1075-14_1075-10dup
|
|
|
NM_006516.4(SLC2A1):c.1075-15C>T
|
|
|
NM_006516.4(SLC2A1):c.1075-16_1076del
|
rs2124446605
|
|
NM_006516.4(SLC2A1):c.1075-20del
|
|
|
NM_006516.4(SLC2A1):c.1075-4A>C
|
|
|
NM_006516.4(SLC2A1):c.1075-7T>C
|
|
|
NM_006516.4(SLC2A1):c.1075G>T (p.Glu359Ter)
|
rs1643443798
|
|
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)
|
|
|
NM_006516.4(SLC2A1):c.1088G>A (p.Trp363Ter)
|
rs1570591031
|
|
NM_006516.4(SLC2A1):c.10A>G (p.Ser4Gly)
|
|
|
NM_006516.4(SLC2A1):c.1100_1101del (p.Leu367fs)
|
|
|
NM_006516.4(SLC2A1):c.1101G>T (p.Leu367=)
|
|
|
NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala)
|
rs796053259
|
|
NM_006516.4(SLC2A1):c.1112C>T (p.Ala371Val)
|
rs1338947760
|
|
NM_006516.4(SLC2A1):c.1113C>T (p.Ala371=)
|
|
|
NM_006516.4(SLC2A1):c.1115T>A (p.Ile372Asn)
|
rs1643443081
|
|
NM_006516.4(SLC2A1):c.1130C>A (p.Ala377Asp)
|
|
|
NM_006516.4(SLC2A1):c.1131CTT[1] (p.Phe379del)
|
|
|
NM_006516.4(SLC2A1):c.114+3G>A
|
rs771836683
|
|
NM_006516.4(SLC2A1):c.1141G>A (p.Val381Met)
|
|
|
NM_006516.4(SLC2A1):c.1149T>C (p.Pro383=)
|
rs2124446473
|
|
NM_006516.4(SLC2A1):c.115-10C>T
|
|
|
NM_006516.4(SLC2A1):c.115-13T>C
|
|
|
NM_006516.4(SLC2A1):c.115-1_115dup
|
rs1557646893
|
|
NM_006516.4(SLC2A1):c.115-3C>A
|
|
|
NM_006516.4(SLC2A1):c.115-5T>C
|
rs374228829
|
|
NM_006516.4(SLC2A1):c.1155C>A (p.Pro385=)
|
rs76860965
|
|
NM_006516.4(SLC2A1):c.1155C>T (p.Pro385=)
|
rs76860965
|
|
NM_006516.4(SLC2A1):c.1157T>G (p.Ile386Ser)
|
rs796053262
|
|
NM_006516.4(SLC2A1):c.1158C>G (p.Ile386Met)
|
|
|
NM_006516.4(SLC2A1):c.1160C>T (p.Pro387Leu)
|
rs2124446457
|
|
NM_006516.4(SLC2A1):c.1161A>G (p.Pro387=)
|
rs138441972
|
|
NM_006516.4(SLC2A1):c.1162T>C (p.Trp388Arg)
|
rs2124446437
|
|
NM_006516.4(SLC2A1):c.1164del (p.Trp388fs)
|
rs2124446431
|
|
NM_006516.4(SLC2A1):c.1179del (p.Glu393fs)
|
rs1553155887
|
|
NM_006516.4(SLC2A1):c.1181T>C (p.Leu394Pro)
|
rs2124446394
|
|
NM_006516.4(SLC2A1):c.1185del (p.Phe395fs)
|
|
|
NM_006516.4(SLC2A1):c.1189C>T (p.Gln397Ter)
|
|
|
NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser)
|
rs1027810691
|
|
NM_006516.4(SLC2A1):c.1196C>G (p.Pro399Arg)
|
rs1643442142
|
|
NM_006516.4(SLC2A1):c.1198C>A (p.Arg400Ser)
|
|
|
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys)
|
rs796053263
|
|
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His)
|
rs776095655
|
|
NM_006516.4(SLC2A1):c.1199G>T (p.Arg400Leu)
|
rs776095655
|
|
NM_006516.4(SLC2A1):c.11G>A (p.Ser4Asn)
|
|
|
NM_006516.4(SLC2A1):c.1208C>T (p.Ala403Val)
|
|
|
NM_006516.4(SLC2A1):c.1210A>G (p.Ile404Val)
|
|
|
NM_006516.4(SLC2A1):c.1210A>T (p.Ile404Phe)
|
|
|
NM_006516.4(SLC2A1):c.1215C>T (p.Ala405=)
|
rs769506294
|
|
NM_006516.4(SLC2A1):c.1215dup (p.Val406fs)
|
rs2124446296
|
|
NM_006516.4(SLC2A1):c.121G>A (p.Glu41Lys)
|
rs769722007
|
|
NM_006516.4(SLC2A1):c.1221A>G (p.Ala407=)
|
rs1643441611
|
|
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)
|
rs1570590876
|
|
NM_006516.4(SLC2A1):c.1223G>C (p.Gly408Ala)
|
rs1570590876
|
|
NM_006516.4(SLC2A1):c.1224_1225del (p.Phe409fs)
|
rs2124446266
|
|
NM_006516.4(SLC2A1):c.1227C>G (p.Phe409Leu)
|
|
|
NM_006516.4(SLC2A1):c.1227C>T (p.Phe409=)
|
rs915920914
|
|
NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser)
|
rs398123069
|
|
NM_006516.4(SLC2A1):c.1236G>T (p.Trp412Cys)
|
|
|
NM_006516.4(SLC2A1):c.1248C>A (p.Phe416Leu)
|
|
|
NM_006516.4(SLC2A1):c.124G>T (p.Glu42Ter)
|
rs2124450939
|
|
NM_006516.4(SLC2A1):c.1254G>A (p.Val418=)
|
|
|
NM_006516.4(SLC2A1):c.1256G>A (p.Gly419Asp)
|
rs139722450
|
|
NM_006516.4(SLC2A1):c.1257C>T (p.Gly419=)
|
rs1557644989
|
|
NM_006516.4(SLC2A1):c.1258A>G (p.Met420Val)
|
|
|
NM_006516.4(SLC2A1):c.1259T>C (p.Met420Thr)
|
rs2124446220
|
|
NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile)
|
rs2124446216
|
|
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu)
|
rs1570590834
|
|
NM_006516.4(SLC2A1):c.1266C>A (p.Phe422Leu)
|
rs2124446209
|
|
NM_006516.4(SLC2A1):c.1268A>C (p.Gln423Pro)
|
rs587784392
|
|
NM_006516.4(SLC2A1):c.126G>A (p.Glu42=)
|
rs2124450936
|
|
NM_006516.4(SLC2A1):c.1272T>G (p.Tyr424Ter)
|
rs796053264
|
|
NM_006516.4(SLC2A1):c.1276G>T (p.Glu426Ter)
|
rs1643440876
|
|
NM_006516.4(SLC2A1):c.1278+11_1278+14dup
|
|
|
NM_006516.4(SLC2A1):c.1278+12del
|
rs368437445
|
|
NM_006516.4(SLC2A1):c.1278+13A>C
|
|
|
NM_006516.4(SLC2A1):c.1278+3G>A
|
|
|
NM_006516.4(SLC2A1):c.1278+6A>T
|
|
|
NM_006516.4(SLC2A1):c.1278+8C>T
|
rs1643440810
|
|
NM_006516.4(SLC2A1):c.1278+9C>A
|
rs550156548
|
|
NM_006516.4(SLC2A1):c.1279-10T>C
|
rs2124445720
|
|
NM_006516.4(SLC2A1):c.1279-11G>A
|
rs1643437011
|
|
NM_006516.4(SLC2A1):c.1279-11_1279-8del
|
rs754641257
|
|
NM_006516.4(SLC2A1):c.1279-16T>C
|
|
|
NM_006516.4(SLC2A1):c.1279-9G>A
|
rs1643436993
|
|
NM_006516.4(SLC2A1):c.1284G>A (p.Leu428=)
|
rs1203899691
|
|
NM_006516.4(SLC2A1):c.1285T>C (p.Cys429Arg)
|
rs2124445674
|
|
NM_006516.4(SLC2A1):c.1286G>A (p.Cys429Tyr)
|
rs796053274
|
|
NM_006516.4(SLC2A1):c.1286G>C (p.Cys429Ser)
|
rs796053274
|
|
NM_006516.4(SLC2A1):c.1288G>A (p.Gly430Ser)
|
rs1643436707
|
|
NM_006516.4(SLC2A1):c.1295A>G (p.Tyr432Cys)
|
rs1643436553
|
|
NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter)
|
rs75485205
|
|
NM_006516.4(SLC2A1):c.129C>T (p.Phe43=)
|
rs2124450930
|
|
NM_006516.4(SLC2A1):c.12C>T (p.Ser4=)
|
|
|
NM_006516.4(SLC2A1):c.130T>G (p.Tyr44Asp)
|
rs375881934
|
|
NM_006516.4(SLC2A1):c.1327C>T (p.Leu443=)
|
rs2124445595
|
|
NM_006516.4(SLC2A1):c.1332C>T (p.Phe444=)
|
rs1297186036
|
|
NM_006516.4(SLC2A1):c.1335C>T (p.Phe445=)
|
|
|
NM_006516.4(SLC2A1):c.1336A>G (p.Ile446Val)
|
rs1643436127
|
|
NM_006516.4(SLC2A1):c.133A>G (p.Asn45Asp)
|
rs1249135503
|
|
NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)
|
|
|
NM_006516.4(SLC2A1):c.1343C>T (p.Thr448Ile)
|
rs2124445545
|
|
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile)
|
rs1216296247
|
|
NM_006516.4(SLC2A1):c.1348T>G (p.Phe450Val)
|
|
|
NM_006516.4(SLC2A1):c.1351A>T (p.Lys451Ter)
|
|
|
NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=)
|
rs1469205406
|
|
NM_006516.4(SLC2A1):c.1366A>G (p.Lys456Glu)
|
rs80359829
|
|
NM_006516.4(SLC2A1):c.136C>T (p.Gln46Ter)
|
rs754791604
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
NM_006516.4(SLC2A1):c.1376C>A (p.Thr459Asn)
|
|
|
NM_006516.4(SLC2A1):c.1380C>T (p.Phe460=)
|
|
|
NM_006516.4(SLC2A1):c.1381G>A (p.Asp461Asn)
|
|
|
NM_006516.4(SLC2A1):c.1382A>T (p.Asp461Val)
|
|
|
NM_006516.4(SLC2A1):c.1387A>T (p.Ile463Phe)
|
rs2124445461
|
|
NM_006516.4(SLC2A1):c.1390G>A (p.Ala464Thr)
|
|
|
NM_006516.4(SLC2A1):c.139A>G (p.Thr47Ala)
|
rs1643485738
|
|
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)
|
rs267607059
|
|
NM_006516.4(SLC2A1):c.1407G>A (p.Gln469=)
|
|
|
NM_006516.4(SLC2A1):c.1408G>A (p.Gly470Arg)
|
rs572648977
|
|
NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg)
|
rs572648977
|
|
NM_006516.4(SLC2A1):c.1408G>T (p.Gly470Trp)
|
rs572648977
|
|
NM_006516.4(SLC2A1):c.1410G>T (p.Gly470=)
|
rs745776663
|
|
NM_006516.4(SLC2A1):c.1412G>T (p.Gly471Val)
|
rs955043564
|
|
NM_006516.4(SLC2A1):c.1412del (p.Gly471fs)
|
rs2124445408
|
|
NM_006516.4(SLC2A1):c.1412dup (p.Ala472fs)
|
rs2124445408
|
|
NM_006516.4(SLC2A1):c.1417A>G (p.Ser473Gly)
|
|
|
NM_006516.4(SLC2A1):c.1424G>A (p.Ser475Asn)
|
rs770901544
|
|
NM_006516.4(SLC2A1):c.142T>G (p.Trp48Gly)
|
rs2124450904
|
|
NM_006516.4(SLC2A1):c.1436C>T (p.Pro479Leu)
|
rs1643434594
|
|
NM_006516.4(SLC2A1):c.143G>A (p.Trp48Ter)
|
|
|
NM_006516.4(SLC2A1):c.1440G>A (p.Glu480=)
|
|
|
NM_006516.4(SLC2A1):c.1444C>A (p.Leu482Met)
|
rs2124445354
|
|
NM_006516.4(SLC2A1):c.1450C>T (p.His484Tyr)
|
rs2124445324
|
|
NM_006516.4(SLC2A1):c.145G>T (p.Val49Phe)
|
rs878854904
|
|
NM_006516.4(SLC2A1):c.1467T>C (p.Asp489=)
|
rs1181822928
|
|
NM_006516.4(SLC2A1):c.146T>C (p.Val49Ala)
|
rs1231935211
|
|
NM_006516.4(SLC2A1):c.152G>C (p.Arg51Pro)
|
rs201815571
|
|
NM_006516.4(SLC2A1):c.153C>T (p.Arg51=)
|
|
|
NM_006516.4(SLC2A1):c.158G>T (p.Gly53Val)
|
rs796053246
|
|
NM_006516.4(SLC2A1):c.159G>T (p.Gly53=)
|
rs2124450884
|
|
NM_006516.4(SLC2A1):c.163_164dup (p.Ser55fs)
|
|
|
NM_006516.4(SLC2A1):c.175ACCACGCTC[1] (p.59TTL[1])
|
|
|
NM_006516.4(SLC2A1):c.177C>T (p.Thr59=)
|
rs754406099
|
|
NM_006516.4(SLC2A1):c.18+1G>A
|
rs80359841
|
|
NM_006516.4(SLC2A1):c.18+2T>G
|
rs1643807832
|
|
NM_006516.4(SLC2A1):c.180G>C (p.Thr60=)
|
|
|
NM_006516.4(SLC2A1):c.181C>T (p.Leu61Phe)
|
|
|
NM_006516.4(SLC2A1):c.183C>A (p.Leu61=)
|
|
|
NM_006516.4(SLC2A1):c.185C>T (p.Thr62Ile)
|
rs1643485004
|
|
NM_006516.4(SLC2A1):c.19-18_19-17del
|
|
|
NM_006516.4(SLC2A1):c.19-20T>C
|
|
|
NM_006516.4(SLC2A1):c.19-4G>T
|
rs398124229
|
|
NM_006516.4(SLC2A1):c.19-8C>T
|
|
|
NM_006516.4(SLC2A1):c.19-9T>A
|
rs753813695
|
|
NM_006516.4(SLC2A1):c.197C>A (p.Ser66Tyr)
|
|
|
NM_006516.4(SLC2A1):c.1A>C (p.Met1Leu)
|
|
|
NM_006516.4(SLC2A1):c.202dup (p.Ser68fs)
|
|
|
NM_006516.4(SLC2A1):c.203C>T (p.Ser68Leu)
|
rs1570593865
|
|
NM_006516.4(SLC2A1):c.204A>G (p.Ser68=)
|
rs2124450824
|
|
NM_006516.4(SLC2A1):c.205G>A (p.Val69Met)
|
rs1643484773
|
|
NM_006516.4(SLC2A1):c.216T>G (p.Phe72Leu)
|
|
|
NM_006516.4(SLC2A1):c.21G>C (p.Lys7Asn)
|
|
|
NM_006516.4(SLC2A1):c.227G>T (p.Gly76Val)
|
rs2124450794
|
|
NM_006516.4(SLC2A1):c.227dup (p.Met77fs)
|
rs1553156199
|
|
NM_006516.4(SLC2A1):c.229_239del (p.Met77fs)
|
rs1643484447
|
|
NM_006516.4(SLC2A1):c.233T>C (p.Ile78Thr)
|
rs2124450777
|
|
NM_006516.4(SLC2A1):c.236G>T (p.Gly79Val)
|
rs1643484465
|
|
NM_006516.4(SLC2A1):c.248_249del (p.Val83fs)
|
|
|
NM_006516.4(SLC2A1):c.249G>T (p.Val83=)
|
rs2124450766
|
|
NM_006516.4(SLC2A1):c.259G>A (p.Val87Ile)
|
rs1643484242
|
|
NM_006516.4(SLC2A1):c.260T>C (p.Val87Ala)
|
|
|
NM_006516.4(SLC2A1):c.26C>T (p.Thr9Met)
|
rs1570601100
|
|
NM_006516.4(SLC2A1):c.272_273insAAGG (p.Arg93fs)
|
|
|
NM_006516.4(SLC2A1):c.273C>T (p.Gly91=)
|
|
|
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.275+13G>A
|
|
|
NM_006516.4(SLC2A1):c.275+14G>A
|
|
|
NM_006516.4(SLC2A1):c.275+1G>A
|
rs2124450697
|
|
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln)
|
|
|
NM_006516.4(SLC2A1):c.275G>C (p.Arg92Pro)
|
rs779073410
|
|
NM_006516.4(SLC2A1):c.276-10C>G
|
|
|
NM_006516.4(SLC2A1):c.276-14G>C
|
|
|
NM_006516.4(SLC2A1):c.276-1G>A
|
rs1570593665
|
|
NM_006516.4(SLC2A1):c.276-2A>G
|
|
|
NM_006516.4(SLC2A1):c.276-4C>G
|
rs2124450512
|
|
NM_006516.4(SLC2A1):c.276-5C>T
|
|
|
NM_006516.4(SLC2A1):c.276-9del
|
rs1346049540
|
|
NM_006516.4(SLC2A1):c.27G>T (p.Thr9=)
|
|
|
NM_006516.4(SLC2A1):c.281A>G (p.Asn94Ser)
|
rs1553156175
|
|
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr)
|
rs1643481875
|
|
NM_006516.4(SLC2A1):c.292A>G (p.Met98Val)
|
|
|
NM_006516.4(SLC2A1):c.294G>C (p.Met98Ile)
|
rs2124450464
|
|
NM_006516.4(SLC2A1):c.294_310del (p.Met98fs)
|
rs2124450420
|
|
NM_006516.4(SLC2A1):c.294dup (p.Met99fs)
|
rs2124450471
|
|
NM_006516.4(SLC2A1):c.295A>G (p.Met99Val)
|
rs1211054711
|
|
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr)
|
rs1553157935
|
|
NM_006516.4(SLC2A1):c.300C>T (p.Asn100=)
|
|
|
NM_006516.4(SLC2A1):c.303G>A (p.Leu101=)
|
|
|
NM_006516.4(SLC2A1):c.305T>C (p.Leu102Pro)
|
|
|
NM_006516.4(SLC2A1):c.305del (p.Leu102fs)
|
rs1570593621
|
|
NM_006516.4(SLC2A1):c.308C>A (p.Ala103Asp)
|
|
|
NM_006516.4(SLC2A1):c.308C>T (p.Ala103Val)
|
|
|
NM_006516.4(SLC2A1):c.309C>T (p.Ala103=)
|
|
|
NM_006516.4(SLC2A1):c.311_314del (p.Phe104fs)
|
|
|
NM_006516.4(SLC2A1):c.312C>T (p.Phe104=)
|
rs76672402
|
|
NM_006516.4(SLC2A1):c.313G>C (p.Val105Leu)
|
rs577667739
|
|
NM_006516.4(SLC2A1):c.315G>C (p.Val105=)
|
|
|
NM_006516.4(SLC2A1):c.319G>A (p.Ala107Thr)
|
|
|
NM_006516.4(SLC2A1):c.322G>C (p.Val108Leu)
|
|
|
NM_006516.4(SLC2A1):c.325C>G (p.Leu109Val)
|
rs1436569888
|
|
NM_006516.4(SLC2A1):c.325C>T (p.Leu109Phe)
|
|
|
NM_006516.4(SLC2A1):c.326T>G (p.Leu109Arg)
|
rs2124450372
|
|
NM_006516.4(SLC2A1):c.336C>T (p.Phe112=)
|
|
|
NM_006516.4(SLC2A1):c.338C>G (p.Ser113Trp)
|
|
|
NM_006516.4(SLC2A1):c.354C>T (p.Ser118=)
|
rs1393465480
|
|
NM_006516.4(SLC2A1):c.35T>A (p.Leu12His)
|
|
|
NM_006516.4(SLC2A1):c.362T>G (p.Met121Arg)
|
|
|
NM_006516.4(SLC2A1):c.369C>T (p.Ile123=)
|
rs1478488524
|
|
NM_006516.4(SLC2A1):c.36C>T (p.Leu12=)
|
|
|
NM_006516.4(SLC2A1):c.370C>G (p.Leu124Val)
|
|
|
NM_006516.4(SLC2A1):c.374del (p.Gly125fs)
|
rs1643480570
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.377G>T (p.Arg126Leu)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.377_382dup (p.Phe127_Ile128insSerPhe)
|
|
|
NM_006516.4(SLC2A1):c.37A>C (p.Met13Leu)
|
|
|
NM_006516.4(SLC2A1):c.381C>T (p.Phe127=)
|
|
|
NM_006516.4(SLC2A1):c.385dup (p.Ile129fs)
|
rs2124450273
|
|
NM_006516.4(SLC2A1):c.387C>G (p.Ile129Met)
|
rs751907207
|
|
NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser)
|
rs80359819
|
|
NM_006516.4(SLC2A1):c.388G>T (p.Gly130Cys)
|
rs80359819
|
|
NM_006516.4(SLC2A1):c.389G>C (p.Gly130Ala)
|
|
|
NM_006516.4(SLC2A1):c.392_460del (p.Val131_Arg153del)
|
rs1570593449
|
|
NM_006516.4(SLC2A1):c.397T>C (p.Cys133Arg)
|
rs1643480228
|
|
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)
|
rs1057518953
|
|
NM_006516.4(SLC2A1):c.400G>T (p.Gly134Cys)
|
rs1057518953
|
|
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=)
|
rs753500924
|
|
NM_006516.4(SLC2A1):c.418G>A (p.Val140Met)
|
rs1057517822
|
|
NM_006516.4(SLC2A1):c.418G>C (p.Val140Leu)
|
rs1057517822
|
|
NM_006516.4(SLC2A1):c.418G>T (p.Val140Leu)
|
|
|
NM_006516.4(SLC2A1):c.420del (p.Met142fs)
|
rs1570593475
|
|
NM_006516.4(SLC2A1):c.422C>T (p.Pro141Leu)
|
|
|
NM_006516.4(SLC2A1):c.423C>G (p.Pro141=)
|
|
|
NM_006516.4(SLC2A1):c.431dup (p.Gly145_Glu146insTer)
|
rs2124450179
|
|
NM_006516.4(SLC2A1):c.432G>A (p.Val144=)
|
|
|
NM_006516.4(SLC2A1):c.433G>T (p.Gly145Cys)
|
rs2124450167
|
|
NM_006516.4(SLC2A1):c.439G>A (p.Val147Met)
|
rs760130033
|
|
NM_006516.4(SLC2A1):c.442_444dup (p.Ser148_Pro149insSer)
|
|
|
NM_006516.4(SLC2A1):c.443C>T (p.Ser148Leu)
|
rs1643479604
|
|
NM_006516.4(SLC2A1):c.447C>G (p.Pro149=)
|
|
|
NM_006516.4(SLC2A1):c.451dup (p.Ala151fs)
|
rs2124450132
|
|
NM_006516.4(SLC2A1):c.452C>A (p.Ala151Asp)
|
|
|
NM_006516.4(SLC2A1):c.457C>A (p.Arg153Ser)
|
|
|
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His)
|
rs794727642
|
|
NM_006516.4(SLC2A1):c.469G>C (p.Gly157Arg)
|
rs1553156157
|
|
NM_006516.4(SLC2A1):c.469_475del (p.Gly157fs)
|
|
|
NM_006516.4(SLC2A1):c.46G>T (p.Val16Leu)
|
rs1553156841
|
|
NM_006516.4(SLC2A1):c.471C>T (p.Gly157=)
|
|
|
NM_006516.4(SLC2A1):c.474C>T (p.Thr158=)
|
rs553309025
|
|
NM_006516.4(SLC2A1):c.478C>T (p.His160Tyr)
|
rs1472329184
|
|
NM_006516.4(SLC2A1):c.480C>T (p.His160=)
|
|
|
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter)
|
rs1413339367
|
|
NM_006516.4(SLC2A1):c.482A>C (p.Gln161Pro)
|
rs1553156154
|
|
NM_006516.4(SLC2A1):c.491TCG[2] (p.Val166del)
|
rs2124450060
|
|
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile)
|
rs1057520545
|
|
NM_006516.4(SLC2A1):c.499G>A (p.Gly167Ser)
|
|
|
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg)
|
rs1345986424
|
|
NM_006516.4(SLC2A1):c.504C>G (p.Ile168Met)
|
rs1643478599
|
|
NM_006516.4(SLC2A1):c.504C>T (p.Ile168=)
|
|
|
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del)
|
rs80359832
|
|
NM_006516.4(SLC2A1):c.516+17T>A
|
|
|
NM_006516.4(SLC2A1):c.516+19T>A
|
|
|
NM_006516.4(SLC2A1):c.516+6C>G
|
rs1231311484
|
|
NM_006516.4(SLC2A1):c.516+9G>T
|
|
|
NM_006516.4(SLC2A1):c.517-10C>T
|
rs200077552
|
|
NM_006516.4(SLC2A1):c.517-15C>T
|
|
|
NM_006516.4(SLC2A1):c.517-16C>T
|
|
|
NM_006516.4(SLC2A1):c.517-17G>A
|
|
|
NM_006516.4(SLC2A1):c.517-19C>T
|
|
|
NM_006516.4(SLC2A1):c.517-1G>A
|
rs869312673
|
|
NM_006516.4(SLC2A1):c.517-2A>C
|
|
|
NM_006516.4(SLC2A1):c.517-3C>T
|
|
|
NM_006516.4(SLC2A1):c.517-4C>T
|
rs776932834
|
|
NM_006516.4(SLC2A1):c.517-6C>A
|
|
|
NM_006516.4(SLC2A1):c.521T>G (p.Phe174Cys)
|
rs1643471482
|
|
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser)
|
rs1085308009
|
|
NM_006516.4(SLC2A1):c.523G>C (p.Gly175Arg)
|
rs1085308009
|
|
NM_006516.4(SLC2A1):c.527T>C (p.Leu176Pro)
|
rs1643471410
|
|
NM_006516.4(SLC2A1):c.52G>A (p.Gly18Arg)
|
|
|
NM_006516.4(SLC2A1):c.532T>G (p.Ser178Ala)
|
rs1570592960
|
|
NM_006516.4(SLC2A1):c.539T>A (p.Met180Lys)
|
|
|
NM_006516.4(SLC2A1):c.545A>G (p.Asn182Ser)
|
rs1643471237
|
|
NM_006516.4(SLC2A1):c.546C>T (p.Asn182=)
|
rs775592444
|
|
NM_006516.4(SLC2A1):c.554T>C (p.Leu185Pro)
|
rs1570592942
|
|
NM_006516.4(SLC2A1):c.556T>C (p.Trp186Arg)
|
rs1643471012
|
|
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter)
|
rs1570592933
|
|
NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter)
|
rs2124449417
|
|
NM_006516.4(SLC2A1):c.55G>A (p.Ala19Thr)
|
|
|
NM_006516.4(SLC2A1):c.566del (p.Leu189fs)
|
|
|
NM_006516.4(SLC2A1):c.56C>T (p.Ala19Val)
|
rs1557651202
|
|
NM_006516.4(SLC2A1):c.574A>C (p.Ile192Leu)
|
|
|
NM_006516.4(SLC2A1):c.574A>G (p.Ile192Val)
|
rs746393667
|
|
NM_006516.4(SLC2A1):c.577A>G (p.Ile193Val)
|
rs1212331558
|
|
NM_006516.4(SLC2A1):c.577_606dup (p.Ile193_Ile202dup)
|
rs1553156090
|
|
NM_006516.4(SLC2A1):c.57del (p.Val20fs)
|
rs1570601051
|
|
NM_006516.4(SLC2A1):c.582C>T (p.Phe194=)
|
|
|
NM_006516.4(SLC2A1):c.586C>G (p.Pro196Ala)
|
rs2124449385
|
|
NM_006516.4(SLC2A1):c.587C>T (p.Pro196Leu)
|
rs771352226
|
|
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)
|
rs2229682
|
|
NM_006516.4(SLC2A1):c.590C>T (p.Ala197Val)
|
|
|
NM_006516.4(SLC2A1):c.593T>C (p.Leu198Pro)
|
rs2124449372
|
|
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter)
|
rs1057521967
|
|
NM_006516.4(SLC2A1):c.603C>T (p.Cys201=)
|
rs1553156091
|
|
NM_006516.4(SLC2A1):c.605T>C (p.Ile202Thr)
|
|
|
NM_006516.4(SLC2A1):c.606C>G (p.Ile202Met)
|
rs779779804
|
|
NM_006516.4(SLC2A1):c.608TGC[1] (p.Leu204del)
|
|
|
NM_006516.4(SLC2A1):c.616T>C (p.Phe206Leu)
|
|
|
NM_006516.4(SLC2A1):c.617T>G (p.Phe206Cys)
|
rs1643470058
|
|
NM_006516.4(SLC2A1):c.620_621insT (p.Glu209fs)
|
rs1643470035
|
|
NM_006516.4(SLC2A1):c.624C>T (p.Pro208=)
|
rs778522408
|
|
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg)
|
rs2124449313
|
|
NM_006516.4(SLC2A1):c.631C>T (p.Pro211Ser)
|
rs796053247
|
|
NM_006516.4(SLC2A1):c.632C>T (p.Pro211Leu)
|
rs2124449306
|
|
NM_006516.4(SLC2A1):c.633C>T (p.Pro211=)
|
rs1060504208
|
|
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys)
|
rs387907312
|
|
NM_006516.4(SLC2A1):c.634del (p.Arg212fs)
|
rs2124449299
|
|
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His)
|
rs886039517
|
|
NM_006516.4(SLC2A1):c.640dup (p.Leu214fs)
|
|
|
NM_006516.4(SLC2A1):c.643C>T (p.Leu215Phe)
|
rs1570592813
|
|
NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val)
|
rs2124449273
|
|
NM_006516.4(SLC2A1):c.651C>T (p.Asn217=)
|
rs2124449270
|
|
NM_006516.4(SLC2A1):c.652_657del (p.Arg218_Asn219del)
|
|
|
NM_006516.4(SLC2A1):c.653G>T (p.Arg218Leu)
|
|
|
NM_006516.4(SLC2A1):c.654C>G (p.Arg218=)
|
|
|
NM_006516.4(SLC2A1):c.656dup (p.Asn219fs)
|
rs2124449259
|
|
NM_006516.4(SLC2A1):c.658G>A (p.Glu220Lys)
|
rs1448464718
|
|
NM_006516.4(SLC2A1):c.666C>A (p.Asn222Lys)
|
rs1557646057
|
|
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)
|
rs796053248
|
|
NM_006516.4(SLC2A1):c.669G>A (p.Arg223=)
|
rs1004623203
|
|
NM_006516.4(SLC2A1):c.672C>T (p.Ala224=)
|
|
|
NM_006516.4(SLC2A1):c.679+13C>A
|
|
|
NM_006516.4(SLC2A1):c.679+13C>T
|
|
|
NM_006516.4(SLC2A1):c.679+19C>T
|
|
|
NM_006516.4(SLC2A1):c.679+4C>A
|
rs139492241
|
|
NM_006516.4(SLC2A1):c.679+4C>T
|
rs139492241
|
|
NM_006516.4(SLC2A1):c.679+5G>C
|
rs771386274
|
|
NM_006516.4(SLC2A1):c.679+6G>A
|
rs2124449194
|
|
NM_006516.4(SLC2A1):c.679+7G>A
|
rs13306757
|
|
NM_006516.4(SLC2A1):c.679+7G>C
|
rs13306757
|
|
NM_006516.4(SLC2A1):c.679+7G>T
|
rs13306757
|
|
NM_006516.4(SLC2A1):c.679+7del
|
|
|
NM_006516.4(SLC2A1):c.680-11G>A
|
rs1259158687
|
|
NM_006516.4(SLC2A1):c.680-11G>T
|
rs1259158687
|
|
NM_006516.4(SLC2A1):c.680-14T>G
|
|
|
NM_006516.4(SLC2A1):c.680-2A>C
|
|
|
NM_006516.4(SLC2A1):c.680-2del
|
rs2124449099
|
|
NM_006516.4(SLC2A1):c.680-4C>G
|
rs1265864945
|
|
NM_006516.4(SLC2A1):c.680-7C>T
|
|
|
NM_006516.4(SLC2A1):c.683T>C (p.Leu228Pro)
|
|
|
NM_006516.4(SLC2A1):c.684A>G (p.Leu228=)
|
rs2124449097
|
|
NM_006516.4(SLC2A1):c.690G>C (p.Lys230Asn)
|
rs1643467923
|
|
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)
|
rs387907313
|
|
NM_006516.4(SLC2A1):c.69C>T (p.Ser23=)
|
|
|
NM_006516.4(SLC2A1):c.6G>A (p.Glu2=)
|
rs1271529267
|
|
NM_006516.4(SLC2A1):c.705_706delinsCT (p.Asp236Tyr)
|
rs2124449063
|
|
NM_006516.4(SLC2A1):c.709G>A (p.Val237Met)
|
|
|
NM_006516.4(SLC2A1):c.710T>A (p.Val237Glu)
|
|
|
NM_006516.4(SLC2A1):c.716A>G (p.His239Arg)
|
|
|
NM_006516.4(SLC2A1):c.717T>C (p.His239=)
|
|
|
NM_006516.4(SLC2A1):c.720C>T (p.Asp240=)
|
rs2124449038
|
|
NM_006516.4(SLC2A1):c.721C>T (p.Leu241=)
|
rs1553156071
|
|
NM_006516.4(SLC2A1):c.725del (p.Gln242fs)
|
|
|
NM_006516.4(SLC2A1):c.726G>A (p.Gln242=)
|
rs1570592618
|
|
NM_006516.4(SLC2A1):c.727G>T (p.Glu243Ter)
|
|
|
NM_006516.4(SLC2A1):c.730A>G (p.Met244Val)
|
|
|
NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr)
|
rs1064795363
|
|
NM_006516.4(SLC2A1):c.734A>C (p.Lys245Thr)
|
|
|
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)
|
rs1570592604
|
|
NM_006516.4(SLC2A1):c.737_740del (p.Glu246fs)
|
|
|
NM_006516.4(SLC2A1):c.738A>C (p.Glu246Asp)
|
|
|
NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys)
|
rs1165759782
|
|
NM_006516.4(SLC2A1):c.740A>G (p.Glu247Gly)
|
|
|
NM_006516.4(SLC2A1):c.750G>A (p.Gln250=)
|
rs1553156067
|
|
NM_006516.4(SLC2A1):c.751_757dup (p.Arg253fs)
|
rs2124448988
|
|
NM_006516.4(SLC2A1):c.754A>G (p.Met252Val)
|
|
|
NM_006516.4(SLC2A1):c.757C>G (p.Arg253Gly)
|
|
|
NM_006516.4(SLC2A1):c.757C>T (p.Arg253Trp)
|
rs1451575059
|
|
NM_006516.4(SLC2A1):c.758G>A (p.Arg253Gln)
|
|
|
NM_006516.4(SLC2A1):c.760G>A (p.Glu254Lys)
|
rs1643466842
|
|
NM_006516.4(SLC2A1):c.762G>A (p.Glu254=)
|
rs1198285991
|
|
NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del)
|
rs1557645931
|
|
NM_006516.4(SLC2A1):c.764A>G (p.Lys255Arg)
|
rs5811
|
|
NM_006516.4(SLC2A1):c.765G>A (p.Lys255=)
|
rs1184570993
|
|
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val)
|
rs80359822
|
|
NM_006516.4(SLC2A1):c.769G>T (p.Val257Phe)
|
|
|
NM_006516.4(SLC2A1):c.773C>A (p.Thr258Asn)
|
|
|
NM_006516.4(SLC2A1):c.779T>C (p.Leu260Pro)
|
rs1557645921
|
|
NM_006516.4(SLC2A1):c.77T>C (p.Phe26Ser)
|
|
|
NM_006516.4(SLC2A1):c.784C>T (p.Leu262=)
|
|
|
NM_006516.4(SLC2A1):c.791G>A (p.Arg264His)
|
rs758919432
|
|
NM_006516.4(SLC2A1):c.794C>T (p.Ser265Phe)
|
|
|
NM_006516.4(SLC2A1):c.797C>G (p.Pro266Arg)
|
rs574211861
|
|
NM_006516.4(SLC2A1):c.800C>T (p.Ala267Val)
|
rs1553156058
|
|
NM_006516.4(SLC2A1):c.801C>T (p.Ala267=)
|
|
|
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His)
|
rs1411827478
|
|
NM_006516.4(SLC2A1):c.808C>T (p.Gln270Ter)
|
rs1553156053
|
|
NM_006516.4(SLC2A1):c.811C>G (p.Pro271Ala)
|
|
|
NM_006516.4(SLC2A1):c.812C>T (p.Pro271Leu)
|
rs1557645879
|
|
NM_006516.4(SLC2A1):c.814A>C (p.Ile272Leu)
|
rs1643465735
|
|
NM_006516.4(SLC2A1):c.817C>T (p.Leu273Phe)
|
|
|
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)
|
rs121909740
|
|
NM_006516.4(SLC2A1):c.829G>C (p.Val277Leu)
|
|
|
NM_006516.4(SLC2A1):c.833T>C (p.Leu278Pro)
|
rs2124448851
|
|
NM_006516.4(SLC2A1):c.835C>T (p.Gln279Ter)
|
rs1553156051
|
|
NM_006516.4(SLC2A1):c.836dup (p.Leu280fs)
|
|
|
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)
|
rs2124448824
|
|
NM_006516.4(SLC2A1):c.844C>T (p.Gln282Ter)
|
rs1057521066
|
|
NM_006516.4(SLC2A1):c.844del (p.Gln282fs)
|
rs2124448836
|
|
NM_006516.4(SLC2A1):c.852G>A (p.Leu284=)
|
rs1553156049
|
|
NM_006516.4(SLC2A1):c.852G>C (p.Leu284=)
|
rs1553156049
|
|
NM_006516.4(SLC2A1):c.863A>T (p.Asn288Ile)
|
rs1643465264
|
|
NM_006516.4(SLC2A1):c.867+10C>T
|
|
|
NM_006516.4(SLC2A1):c.867+18C>A
|
|
|
NM_006516.4(SLC2A1):c.867T>A (p.Ala289=)
|
rs2124448800
|
|
NM_006516.4(SLC2A1):c.868-12_868-11del
|
|
|
NM_006516.4(SLC2A1):c.868-19A>G
|
|
|
NM_006516.4(SLC2A1):c.868-20C>T
|
rs2124448438
|
|
NM_006516.4(SLC2A1):c.868-2A>C
|
rs2124448423
|
|
NM_006516.4(SLC2A1):c.868-5G>A
|
|
|
NM_006516.4(SLC2A1):c.872T>C (p.Phe291Ser)
|
rs1643461834
|
|
NM_006516.4(SLC2A1):c.875A>C (p.Tyr292Ser)
|
|
|
NM_006516.4(SLC2A1):c.876T>G (p.Tyr292Ter)
|
|
|
NM_006516.4(SLC2A1):c.877T>C (p.Tyr293His)
|
rs2124448410
|
|
NM_006516.4(SLC2A1):c.878A>C (p.Tyr293Ser)
|
rs2124448402
|
|
NM_006516.4(SLC2A1):c.880T>C (p.Ser294Pro)
|
|
|
NM_006516.4(SLC2A1):c.880T>G (p.Ser294Ala)
|
|
|
NM_006516.4(SLC2A1):c.881C>G (p.Ser294Cys)
|
rs1557645723
|
|
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)
|
rs80359823
|
|
NM_006516.4(SLC2A1):c.886A>G (p.Ser296Gly)
|
rs2124448386
|
|
NM_006516.4(SLC2A1):c.889A>G (p.Ile297Val)
|
|
|
NM_006516.4(SLC2A1):c.892T>A (p.Phe298Ile)
|
|
|
NM_006516.4(SLC2A1):c.898A>T (p.Lys300Ter)
|
rs2124448369
|
|
NM_006516.4(SLC2A1):c.89C>T (p.Thr30Ile)
|
|
|
NM_006516.4(SLC2A1):c.902C>G (p.Ala301Gly)
|
rs1425773776
|
|
NM_006516.4(SLC2A1):c.907G>A (p.Val303Met)
|
rs1205631854
|
|
NM_006516.4(SLC2A1):c.921G>A (p.Val307=)
|
|
|
NM_006516.4(SLC2A1):c.921G>C (p.Val307=)
|
rs1643460979
|
|
NM_006516.4(SLC2A1):c.923A>G (p.Tyr308Cys)
|
|
|
NM_006516.4(SLC2A1):c.924T>C (p.Tyr308=)
|
rs1553156011
|
|
NM_006516.4(SLC2A1):c.92G>A (p.Gly31Glu)
|
rs1557651185
|
|
NM_006516.4(SLC2A1):c.930C>T (p.Thr310=)
|
rs2124448316
|
|
NM_006516.4(SLC2A1):c.931A>G (p.Ile311Val)
|
|
|
NM_006516.4(SLC2A1):c.936C>T (p.Gly312=)
|
|
|
NM_006516.4(SLC2A1):c.937T>C (p.Ser313Pro)
|
rs886041633
|
|
NM_006516.4(SLC2A1):c.939dup (p.Gly314fs)
|
rs886041590
|
|
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
|
rs121909739
|
|
NM_006516.4(SLC2A1):c.941G>A (p.Gly314Asp)
|
rs2124448295
|
|
NM_006516.4(SLC2A1):c.943A>G (p.Ile315Val)
|
|
|
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met)
|
rs780528770
|
|
NM_006516.4(SLC2A1):c.945C>T (p.Ile315=)
|
rs780528770
|
|
NM_006516.4(SLC2A1):c.950A>C (p.Asn317Thr)
|
|
|
NM_006516.4(SLC2A1):c.952A>C (p.Thr318Pro)
|
|
|
NM_006516.4(SLC2A1):c.957C>T (p.Ala319=)
|
rs1643460439
|
|
NM_006516.4(SLC2A1):c.962C>T (p.Thr321Ile)
|
|
|
NM_006516.4(SLC2A1):c.964G>C (p.Val322Leu)
|
|
|
NM_006516.4(SLC2A1):c.965T>C (p.Val322Ala)
|
rs1060501354
|
|
NM_006516.4(SLC2A1):c.968T>C (p.Val323Ala)
|
rs1643460170
|
|
NM_006516.4(SLC2A1):c.969G>A (p.Val323=)
|
|
|
NM_006516.4(SLC2A1):c.970_972+3del
|
rs1643459989
|
|
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu)
|
rs796053253
|
|
NM_006516.4(SLC2A1):c.972+13T>G
|
|
|
NM_006516.4(SLC2A1):c.972+17T>C
|
rs202140308
|
|
NM_006516.4(SLC2A1):c.972+17_972+22del
|
|
|
NM_006516.4(SLC2A1):c.972+1G>C
|
rs80359843
|
|
NM_006516.4(SLC2A1):c.972+20C>G
|
rs781545555
|
|
NM_006516.4(SLC2A1):c.972+4_972+5del
|
rs1553155999
|
|
NM_006516.4(SLC2A1):c.972+7C>G
|
rs1553155998
|
|
NM_006516.4(SLC2A1):c.972+9_972+10del
|
rs1643459851
|
|
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=)
|
rs796053254
|
|
NM_006516.4(SLC2A1):c.973-12C>G
|
|
|
NM_006516.4(SLC2A1):c.973-12C>T
|
rs1024915770
|
|
NM_006516.4(SLC2A1):c.973-18C>T
|
|
|
NM_006516.4(SLC2A1):c.973C>T (p.Leu325=)
|
rs1643458099
|
|
NM_006516.4(SLC2A1):c.977T>C (p.Phe326Ser)
|
rs747411639
|
|
NM_006516.4(SLC2A1):c.982G>C (p.Val328Leu)
|
rs796053255
|
|
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys)
|
rs2124448063
|
|
NM_006516.4(SLC2A1):c.985G>C (p.Glu329Gln)
|
|
|
NM_006516.4(SLC2A1):c.988C>A (p.Arg330=)
|
rs80359826
|
|
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
|
|
|
NM_006516.4(SLC2A1):c.994G>A (p.Gly332Ser)
|
rs1643457707
|
|
NM_006516.4(SLC2A1):c.994G>C (p.Gly332Arg)
|
rs1643457707
|
|
NM_006516.4(SLC2A1):c.995G>A (p.Gly332Asp)
|
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006516.4(SLC2A1):c.997_1000del (p.Arg333fs)
|
|
|
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)
|
rs1553155986
|
|
NM_006516.4(SLC2A1):c.9C>T (p.Pro3=)
|
rs1643808085
|
|