NM_002103.5(GYS1):c.1246A>G (p.Met416Val)
|
rs5447
|
0.01369
|
NM_002103.5(GYS1):c.*256G>A
|
rs148077948
|
0.00465
|
NM_002103.5(GYS1):c.555C>T (p.Gly185=)
|
rs2229612
|
0.00314
|
NM_002103.5(GYS1):c.300+8G>A
|
rs5454
|
0.00187
|
NM_002103.5(GYS1):c.1810-6C>T
|
rs112366219
|
0.00055
|
NM_002103.5(GYS1):c.201G>A (p.Pro67=)
|
rs140201404
|
0.00032
|
NM_002103.5(GYS1):c.1338C>T (p.His446=)
|
rs139974904
|
0.00029
|
NM_002103.5(GYS1):c.207G>A (p.Thr69=)
|
rs540438011
|
0.00019
|
NM_002103.5(GYS1):c.1512C>T (p.Val504=)
|
rs201028159
|
0.00018
|
NM_002103.5(GYS1):c.1810-19C>A
|
rs367581750
|
0.00016
|
NM_002103.5(GYS1):c.255G>A (p.Pro85=)
|
rs146417520
|
0.00016
|
NM_002103.5(GYS1):c.1068C>T (p.Asn356=)
|
rs746981890
|
0.00014
|
NM_002103.5(GYS1):c.1308+8T>C
|
rs371156570
|
0.00012
|
NM_002103.5(GYS1):c.942-20G>A
|
rs368204451
|
0.00010
|
NM_002103.5(GYS1):c.1305G>A (p.Thr435=)
|
rs147610727
|
0.00009
|
NM_002103.5(GYS1):c.1083A>G (p.Thr361=)
|
rs149865396
|
0.00008
|
NM_002103.5(GYS1):c.441G>A (p.Glu147=)
|
rs115793204
|
0.00008
|
NM_002103.5(GYS1):c.300+7C>T
|
rs759904590
|
0.00007
|
NM_002103.5(GYS1):c.1063-5C>T
|
rs776549260
|
0.00006
|
NM_002103.5(GYS1):c.1309-4G>A
|
rs112034326
|
0.00006
|
NM_002103.5(GYS1):c.1332C>T (p.Cys444=)
|
rs377125421
|
0.00006
|
NM_002103.5(GYS1):c.1740G>A (p.Arg580=)
|
rs773784707
|
0.00006
|
NM_002103.5(GYS1):c.177C>T (p.Gly59=)
|
rs779646777
|
0.00006
|
NM_002103.5(GYS1):c.1995C>T (p.Asn665=)
|
rs201072036
|
0.00006
|
NM_002103.5(GYS1):c.684C>T (p.Asn228=)
|
rs202167827
|
0.00006
|
NM_002103.5(GYS1):c.824-14dup
|
rs769641500
|
0.00006
|
NM_002103.5(GYS1):c.1335C>T (p.Thr445=)
|
rs753790981
|
0.00005
|
NM_002103.5(GYS1):c.1401T>C (p.Asn467=)
|
rs574896397
|
0.00005
|
NM_002103.5(GYS1):c.759C>T (p.His253=)
|
rs149182914
|
0.00005
|
NM_002103.5(GYS1):c.813G>A (p.Lys271=)
|
rs942457914
|
0.00005
|
NM_002103.5(GYS1):c.1169+18C>T
|
rs745793191
|
0.00004
|
NM_002103.5(GYS1):c.1416G>A (p.Arg472=)
|
rs138480890
|
0.00004
|
NM_002103.5(GYS1):c.147G>A (p.Thr49=)
|
rs748031807
|
0.00004
|
NM_002103.5(GYS1):c.1704C>T (p.Thr568=)
|
rs760568725
|
0.00004
|
NM_002103.5(GYS1):c.303G>A (p.Val101=)
|
rs1391443496
|
0.00004
|
NM_002103.5(GYS1):c.477C>G (p.Thr159=)
|
rs144548792
|
0.00004
|
NM_002103.5(GYS1):c.547T>C (p.Leu183=)
|
rs147264448
|
0.00004
|
NM_002103.5(GYS1):c.1128C>T (p.Asn376=)
|
rs763282805
|
0.00003
|
NM_002103.5(GYS1):c.1169+14G>A
|
rs772135585
|
0.00003
|
NM_002103.5(GYS1):c.222G>A (p.Arg74=)
|
rs748174034
|
0.00003
|
NM_002103.5(GYS1):c.741G>A (p.Ala247=)
|
rs3745692
|
0.00003
|
NM_002103.5(GYS1):c.984C>T (p.Ile328=)
|
rs769000809
|
0.00003
|
NM_002103.5(GYS1):c.1122T>C (p.Asn374=)
|
rs1300778334
|
0.00002
|
NM_002103.5(GYS1):c.1258C>T (p.Leu420=)
|
rs761332247
|
0.00002
|
NM_002103.5(GYS1):c.1549+10G>A
|
rs1249320184
|
0.00002
|
NM_002103.5(GYS1):c.1779C>T (p.Ser593=)
|
rs372542706
|
0.00002
|
NM_002103.5(GYS1):c.1809+18C>A
|
rs752499733
|
0.00002
|
NM_002103.5(GYS1):c.1810-18del
|
rs746072387
|
0.00002
|
NM_002103.5(GYS1):c.1810-9T>C
|
rs758217607
|
0.00002
|
NM_002103.5(GYS1):c.309C>T (p.Phe103=)
|
rs1390208595
|
0.00002
|
NM_002103.5(GYS1):c.492+8C>A
|
rs751502676
|
0.00002
|
NM_002103.5(GYS1):c.678+13C>T
|
rs751882736
|
0.00002
|
NM_002103.5(GYS1):c.1062+20G>A
|
rs1166929573
|
0.00001
|
NM_002103.5(GYS1):c.1063-4G>A
|
rs201159254
|
0.00001
|
NM_002103.5(GYS1):c.1063-8C>T
|
rs749468005
|
0.00001
|
NM_002103.5(GYS1):c.1110G>A (p.Ala370=)
|
rs200386346
|
0.00001
|
NM_002103.5(GYS1):c.1155G>A (p.Val385=)
|
rs1462804703
|
0.00001
|
NM_002103.5(GYS1):c.1176G>A (p.Thr392=)
|
rs151212573
|
0.00001
|
NM_002103.5(GYS1):c.1242C>T (p.Pro414=)
|
rs751382433
|
0.00001
|
NM_002103.5(GYS1):c.1437G>A (p.Pro479=)
|
rs752556651
|
0.00001
|
NM_002103.5(GYS1):c.1533T>C (p.Pro511=)
|
rs764544117
|
0.00001
|
NM_002103.5(GYS1):c.153G>A (p.Ala51=)
|
rs754432159
|
0.00001
|
NM_002103.5(GYS1):c.1809+7C>T
|
rs750481025
|
0.00001
|
NM_002103.5(GYS1):c.1891-11G>A
|
rs1243119458
|
0.00001
|
NM_002103.5(GYS1):c.2124C>G (p.Arg708=)
|
rs1262661557
|
0.00001
|
NM_002103.5(GYS1):c.216C>T (p.Gly72=)
|
rs773065230
|
0.00001
|
NM_002103.5(GYS1):c.438C>T (p.Arg146=)
|
rs1395632551
|
0.00001
|
NM_002103.5(GYS1):c.621G>A (p.Thr207=)
|
rs767865045
|
0.00001
|
NM_002103.5(GYS1):c.637C>T (p.Leu213=)
|
rs764668070
|
0.00001
|
NM_002103.5(GYS1):c.679-16del
|
rs755898154
|
0.00001
|
NM_002103.5(GYS1):c.885C>T (p.Asn295=)
|
rs2038787036
|
0.00001
|
NM_002103.5(GYS1):c.941+7G>A
|
rs555810103
|
0.00001
|
NM_002103.5(GYS1):c.1042C>A (p.Arg348=)
|
|
|
NM_002103.5(GYS1):c.1062+10G>A
|
rs1025097657
|
|
NM_002103.5(GYS1):c.1062+11G>A
|
|
|
NM_002103.5(GYS1):c.1062+15A>G
|
|
|
NM_002103.5(GYS1):c.1063-17C>T
|
|
|
NM_002103.5(GYS1):c.1063-18T>G
|
rs2122505836
|
|
NM_002103.5(GYS1):c.1063-19C>G
|
|
|
NM_002103.5(GYS1):c.1074C>T (p.Ser358=)
|
|
|
NM_002103.5(GYS1):c.1137C>T (p.Thr379=)
|
rs2122505335
|
|
NM_002103.5(GYS1):c.1164G>A (p.Gln388=)
|
|
|
NM_002103.5(GYS1):c.1169+19G>A
|
|
|
NM_002103.5(GYS1):c.1169+9C>T
|
rs766614540
|
|
NM_002103.5(GYS1):c.1170-20T>C
|
|
|
NM_002103.5(GYS1):c.1170-6C>G
|
|
|
NM_002103.5(GYS1):c.1170-6C>T
|
rs903123136
|
|
NM_002103.5(GYS1):c.1185G>A (p.Thr395=)
|
|
|
NM_002103.5(GYS1):c.1185G>T (p.Thr395=)
|
rs777198699
|
|
NM_002103.5(GYS1):c.119-14G>A
|
|
|
NM_002103.5(GYS1):c.119-15C>T
|
|
|
NM_002103.5(GYS1):c.1194A>G (p.Glu398=)
|
|
|
NM_002103.5(GYS1):c.1200C>T (p.Phe400=)
|
|
|
NM_002103.5(GYS1):c.1218A>G (p.Glu406=)
|
rs2122491545
|
|
NM_002103.5(GYS1):c.1229+15C>G
|
|
|
NM_002103.5(GYS1):c.1229+16T>G
|
|
|
NM_002103.5(GYS1):c.1229+19G>C
|
rs1286503875
|
|
NM_002103.5(GYS1):c.1269A>G (p.Glu423=)
|
|
|
NM_002103.5(GYS1):c.1288A>C (p.Arg430=)
|
rs1429444927
|
|
NM_002103.5(GYS1):c.1299T>C (p.Phe433=)
|
|
|
NM_002103.5(GYS1):c.1308+20G>A
|
|
|
NM_002103.5(GYS1):c.1309-17T>C
|
rs2122477632
|
|
NM_002103.5(GYS1):c.1309-20C>T
|
|
|
NM_002103.5(GYS1):c.1309-8T>C
|
rs1555798424
|
|
NM_002103.5(GYS1):c.1309-9del
|
|
|
NM_002103.5(GYS1):c.1314G>A (p.Gln438=)
|
rs2122477515
|
|
NM_002103.5(GYS1):c.1362C>T (p.Asp454=)
|
|
|
NM_002103.5(GYS1):c.1423-13T>A
|
|
|
NM_002103.5(GYS1):c.1423-15_1423-13del
|
|
|
NM_002103.5(GYS1):c.1423-20T>A
|
|
|
NM_002103.5(GYS1):c.1423-4C>A
|
rs1197579441
|
|
NM_002103.5(GYS1):c.1482G>A (p.Glu494=)
|
|
|
NM_002103.5(GYS1):c.150G>A (p.Lys50=)
|
rs1600154925
|
|
NM_002103.5(GYS1):c.1518C>T (p.Pro506=)
|
rs920576632
|
|
NM_002103.5(GYS1):c.1549+16dup
|
|
|
NM_002103.5(GYS1):c.1549+18G>C
|
|
|
NM_002103.5(GYS1):c.1549+19G>C
|
rs2038608930
|
|
NM_002103.5(GYS1):c.1646-4A>G
|
|
|
NM_002103.5(GYS1):c.1646-6C>T
|
|
|
NM_002103.5(GYS1):c.1646-9C>G
|
|
|
NM_002103.5(GYS1):c.1662C>T (p.Asp554=)
|
|
|
NM_002103.5(GYS1):c.168C>T (p.Asp56=)
|
|
|
NM_002103.5(GYS1):c.1716C>T (p.Tyr572=)
|
|
|
NM_002103.5(GYS1):c.1809+13C>A
|
|
|
NM_002103.5(GYS1):c.1809+9C>G
|
rs1327230198
|
|
NM_002103.5(GYS1):c.1810-11C>T
|
|
|
NM_002103.5(GYS1):c.1810-15C>T
|
|
|
NM_002103.5(GYS1):c.1810-19C>T
|
rs367581750
|
|
NM_002103.5(GYS1):c.1810-20C>G
|
|
|
NM_002103.5(GYS1):c.1810-20C>T
|
|
|
NM_002103.5(GYS1):c.1810-7C>A
|
rs778919596
|
|
NM_002103.5(GYS1):c.1810-7C>T
|
|
|
NM_002103.5(GYS1):c.1815T>C (p.Tyr605=)
|
|
|
NM_002103.5(GYS1):c.1836G>A (p.Ala612=)
|
|
|
NM_002103.5(GYS1):c.1839G>C (p.Leu613=)
|
|
|
NM_002103.5(GYS1):c.1891-19C>T
|
|
|
NM_002103.5(GYS1):c.1899G>T (p.Gly633=)
|
rs1555797705
|
|
NM_002103.5(GYS1):c.1908C>T (p.Tyr636=)
|
rs2122453422
|
|
NM_002103.5(GYS1):c.192G>A (p.Leu64=)
|
|
|
NM_002103.5(GYS1):c.1932G>A (p.Pro644=)
|
rs1600127983
|
|
NM_002103.5(GYS1):c.1962G>A (p.Pro654=)
|
rs1274965475
|
|
NM_002103.5(GYS1):c.198G>A (p.Gly66=)
|
|
|
NM_002103.5(GYS1):c.2001G>T (p.Pro667=)
|
rs1164592345
|
|
NM_002103.5(GYS1):c.2007G>A (p.Glu669=)
|
|
|
NM_002103.5(GYS1):c.2016C>A (p.Gly672=)
|
rs1213596695
|
|
NM_002103.5(GYS1):c.2043C>A (p.Ala681=)
|
|
|
NM_002103.5(GYS1):c.2070A>G (p.Ala690=)
|
rs1307896845
|
|
NM_002103.5(GYS1):c.2178C>T (p.Leu726=)
|
rs2122451246
|
|
NM_002103.5(GYS1):c.235C>T (p.Leu79=)
|
rs886054573
|
|
NM_002103.5(GYS1):c.243G>A (p.Glu81=)
|
|
|
NM_002103.5(GYS1):c.297C>T (p.Cys99=)
|
|
|
NM_002103.5(GYS1):c.300+11G>A
|
rs201417230
|
|
NM_002103.5(GYS1):c.300+11G>T
|
rs201417230
|
|
NM_002103.5(GYS1):c.300+11del
|
|
|
NM_002103.5(GYS1):c.300+7C>G
|
|
|
NM_002103.5(GYS1):c.301-10C>A
|
|
|
NM_002103.5(GYS1):c.301-10C>T
|
rs2122525723
|
|
NM_002103.5(GYS1):c.301-16C>T
|
|
|
NM_002103.5(GYS1):c.348C>T (p.Leu116=)
|
rs1294127713
|
|
NM_002103.5(GYS1):c.375C>A (p.Ala125=)
|
rs2038857803
|
|
NM_002103.5(GYS1):c.417C>T (p.Ile139=)
|
rs758550328
|
|
NM_002103.5(GYS1):c.432C>T (p.Tyr144=)
|
|
|
NM_002103.5(GYS1):c.435C>T (p.Asp145=)
|
|
|
NM_002103.5(GYS1):c.447C>T (p.Asn149=)
|
|
|
NM_002103.5(GYS1):c.483C>T (p.Phe161=)
|
|
|
NM_002103.5(GYS1):c.489T>G (p.Gly163=)
|
|
|
NM_002103.5(GYS1):c.492+10G>A
|
rs772808320
|
|
NM_002103.5(GYS1):c.492+16C>T
|
|
|
NM_002103.5(GYS1):c.492+17A>G
|
|
|
NM_002103.5(GYS1):c.498G>A (p.Leu166=)
|
|
|
NM_002103.5(GYS1):c.603C>T (p.Ile201=)
|
rs2122520643
|
|
NM_002103.5(GYS1):c.645C>G (p.Ala215=)
|
rs371721154
|
|
NM_002103.5(GYS1):c.645C>T (p.Ala215=)
|
rs371721154
|
|
NM_002103.5(GYS1):c.678+14G>A
|
|
|
NM_002103.5(GYS1):c.679-18C>T
|
|
|
NM_002103.5(GYS1):c.679-19G>A
|
|
|
NM_002103.5(GYS1):c.679-4C>G
|
|
|
NM_002103.5(GYS1):c.681C>T (p.Phe227=)
|
rs2122519311
|
|
NM_002103.5(GYS1):c.6T>C (p.Pro2=)
|
rs2038966717
|
|
NM_002103.5(GYS1):c.714C>A (p.Ile238=)
|
|
|
NM_002103.5(GYS1):c.717C>T (p.Tyr239=)
|
rs2038830065
|
|
NM_002103.5(GYS1):c.786C>T (p.Thr262=)
|
|
|
NM_002103.5(GYS1):c.801G>A (p.Gln267=)
|
rs2122518762
|
|
NM_002103.5(GYS1):c.816G>A (p.Arg272=)
|
|
|
NM_002103.5(GYS1):c.823+11G>A
|
|
|
NM_002103.5(GYS1):c.823+11_823+12del
|
rs750236338
|
|
NM_002103.5(GYS1):c.823+13C>T
|
|
|
NM_002103.5(GYS1):c.823+20C>T
|
rs1343844948
|
|
NM_002103.5(GYS1):c.867C>A (p.Ala289=)
|
|
|
NM_002103.5(GYS1):c.927G>C (p.Arg309=)
|
rs2122509669
|
|
NM_002103.5(GYS1):c.941+20A>G
|
|
|
NM_002103.5(GYS1):c.942-13G>C
|
|
|
NM_002103.5(GYS1):c.942-14del
|
|
|
NM_002103.5(GYS1):c.942-20G>T
|
rs368204451
|
|
NM_002103.5(GYS1):c.981T>C (p.Phe327=)
|
|
|
NM_002103.5(GYS1):c.996T>C (p.Tyr332=)
|
|
|