NM_002103.5(GYS1):c.*357G>A
|
rs570639504
|
0.00061
|
NM_002103.5(GYS1):c.1324C>G (p.Pro442Ala)
|
rs142951866
|
0.00054
|
NM_002103.5(GYS1):c.2014G>A (p.Gly672Ser)
|
rs145448665
|
0.00036
|
NM_002103.5(GYS1):c.213G>C (p.Gln71His)
|
rs200998100
|
0.00035
|
NM_002103.5(GYS1):c.1338C>T (p.His446=)
|
rs139974904
|
0.00029
|
NM_002103.5(GYS1):c.*229C>T
|
rs920764718
|
0.00023
|
NM_002103.5(GYS1):c.395A>G (p.Glu132Gly)
|
rs183816843
|
0.00022
|
NM_002103.5(GYS1):c.1890G>A (p.Ala630=)
|
rs142457302
|
0.00019
|
NM_002103.5(GYS1):c.722G>A (p.Arg241Gln)
|
rs192597341
|
0.00015
|
NM_002103.5(GYS1):c.1390G>A (p.Gly464Ser)
|
rs200862074
|
0.00014
|
NM_002103.5(GYS1):c.254C>T (p.Pro85Leu)
|
rs140774115
|
0.00014
|
NM_002103.5(GYS1):c.553G>A (p.Gly185Ser)
|
rs201248933
|
0.00012
|
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser)
|
rs200672892
|
0.00011
|
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn)
|
rs573897595
|
0.00009
|
NM_002103.5(GYS1):c.1305G>A (p.Thr435=)
|
rs147610727
|
0.00009
|
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu)
|
rs144681053
|
0.00007
|
NM_002103.5(GYS1):c.*1044T>G
|
rs886054564
|
0.00006
|
NM_002103.5(GYS1):c.1077G>A (p.Glu359=)
|
rs756998086
|
0.00006
|
NM_002103.5(GYS1):c.1078C>A (p.Gln360Lys)
|
rs1003071543
|
0.00006
|
NM_002103.5(GYS1):c.1332C>T (p.Cys444=)
|
rs377125421
|
0.00006
|
NM_002103.5(GYS1):c.2065C>T (p.Arg689Cys)
|
rs994882983
|
0.00006
|
NM_002103.5(GYS1):c.*395C>T
|
rs112850979
|
0.00005
|
NM_002103.5(GYS1):c.1754A>G (p.Gln585Arg)
|
rs748471233
|
0.00005
|
NM_002103.5(GYS1):c.1879G>A (p.Glu627Lys)
|
rs962330001
|
0.00005
|
NM_002103.5(GYS1):c.1912C>T (p.Arg638Trp)
|
rs768327651
|
0.00005
|
NM_002103.5(GYS1):c.1922C>T (p.Ser641Leu)
|
rs137913986
|
0.00005
|
NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys)
|
rs574739791
|
0.00005
|
NM_002103.5(GYS1):c.*78C>T
|
rs749720376
|
0.00004
|
NM_002103.5(GYS1):c.*969C>T
|
rs900047388
|
0.00004
|
NM_002103.5(GYS1):c.1049A>G (p.Asn350Ser)
|
rs776808234
|
0.00004
|
NM_002103.5(GYS1):c.1112G>A (p.Arg371Gln)
|
rs369847599
|
0.00004
|
NM_002103.5(GYS1):c.1279A>G (p.Met427Val)
|
rs746669628
|
0.00004
|
NM_002103.5(GYS1):c.1904G>A (p.Arg635His)
|
rs200113836
|
0.00004
|
NM_002103.5(GYS1):c.206C>T (p.Thr69Met)
|
rs760809851
|
0.00004
|
NM_002103.5(GYS1):c.251C>T (p.Thr84Ile)
|
rs143186691
|
0.00004
|
NM_002103.5(GYS1):c.303G>A (p.Val101=)
|
rs1391443496
|
0.00004
|
NM_002103.5(GYS1):c.631C>T (p.Arg211Cys)
|
rs150822415
|
0.00004
|
NM_002103.5(GYS1):c.646G>T (p.Gly216Cys)
|
rs141601517
|
0.00004
|
NM_002103.5(GYS1):c.652G>A (p.Val218Met)
|
rs771977818
|
0.00004
|
NM_002103.5(GYS1):c.80C>T (p.Ala27Val)
|
rs759088871
|
0.00004
|
NM_002103.5(GYS1):c.1057C>T (p.Leu353Phe)
|
rs761016746
|
0.00003
|
NM_002103.5(GYS1):c.1102A>G (p.Met368Val)
|
rs1239694022
|
0.00003
|
NM_002103.5(GYS1):c.152C>T (p.Ala51Val)
|
rs780821674
|
0.00003
|
NM_002103.5(GYS1):c.178G>A (p.Asp60Asn)
|
rs781563966
|
0.00003
|
NM_002103.5(GYS1):c.2092T>C (p.Ser698Pro)
|
rs147627546
|
0.00003
|
NM_002103.5(GYS1):c.2105C>T (p.Ser702Phe)
|
rs1375243403
|
0.00003
|
NM_002103.5(GYS1):c.2122C>G (p.Arg708Gly)
|
rs776737199
|
0.00003
|
NM_002103.5(GYS1):c.222G>A (p.Arg74=)
|
rs748174034
|
0.00003
|
NM_002103.5(GYS1):c.425C>T (p.Pro142Leu)
|
rs1045006240
|
0.00003
|
NM_002103.5(GYS1):c.500C>A (p.Ala167Glu)
|
rs1199465827
|
0.00003
|
NM_002103.5(GYS1):c.678C>T (p.Asn226=)
|
rs760384808
|
0.00003
|
NM_002103.5(GYS1):c.741G>A (p.Ala247=)
|
rs3745692
|
0.00003
|
NM_002103.5(GYS1):c.-26C>T
|
rs202114467
|
0.00002
|
NM_002103.5(GYS1):c.1020C>T (p.Asp340=)
|
rs13306415
|
0.00002
|
NM_002103.5(GYS1):c.1075G>A (p.Glu359Lys)
|
rs778215783
|
0.00002
|
NM_002103.5(GYS1):c.1079A>T (p.Gln360Leu)
|
rs759812102
|
0.00002
|
NM_002103.5(GYS1):c.1236C>G (p.Ser412Arg)
|
rs753922665
|
0.00002
|
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala)
|
rs775775270
|
0.00002
|
NM_002103.5(GYS1):c.146C>T (p.Thr49Met)
|
rs748894032
|
0.00002
|
NM_002103.5(GYS1):c.1492C>T (p.Arg498Cys)
|
rs766146709
|
0.00002
|
NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr)
|
rs1205499394
|
0.00002
|
NM_002103.5(GYS1):c.584G>A (p.Arg195Gln)
|
rs1465178449
|
0.00002
|
NM_002103.5(GYS1):c.740C>T (p.Ala247Val)
|
rs1318179540
|
0.00002
|
NM_002103.5(GYS1):c.803A>T (p.His268Leu)
|
rs769630976
|
0.00002
|
NM_002103.5(GYS1):c.941+4C>T
|
rs374388103
|
0.00002
|
NM_002103.5(GYS1):c.945T>A (p.His315Gln)
|
rs2038779389
|
0.00002
|
NM_002103.5(GYS1):c.*110G>A
|
rs1008518917
|
0.00001
|
NM_002103.5(GYS1):c.*413G>A
|
rs1296511627
|
0.00001
|
NM_002103.5(GYS1):c.*472G>A
|
rs886054566
|
0.00001
|
NM_002103.5(GYS1):c.1012G>C (p.Gly338Arg)
|
rs1214342035
|
0.00001
|
NM_002103.5(GYS1):c.1021G>A (p.Val341Ile)
|
rs751121252
|
0.00001
|
NM_002103.5(GYS1):c.1043G>A (p.Arg348Gln)
|
rs767829857
|
0.00001
|
NM_002103.5(GYS1):c.1052A>G (p.Tyr351Cys)
|
rs769215150
|
0.00001
|
NM_002103.5(GYS1):c.1062+5G>A
|
rs199937247
|
0.00001
|
NM_002103.5(GYS1):c.1169+13C>T
|
rs775362871
|
0.00001
|
NM_002103.5(GYS1):c.1177G>A (p.Ala393Thr)
|
rs1234293707
|
0.00001
|
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met)
|
rs748765779
|
0.00001
|
NM_002103.5(GYS1):c.1242C>T (p.Pro414=)
|
rs751382433
|
0.00001
|
NM_002103.5(GYS1):c.1261G>C (p.Asp421His)
|
rs763908374
|
0.00001
|
NM_002103.5(GYS1):c.1308+5G>A
|
rs779587345
|
0.00001
|
NM_002103.5(GYS1):c.1318T>C (p.Phe440Leu)
|
rs756191455
|
0.00001
|
NM_002103.5(GYS1):c.135G>A (p.Thr45=)
|
rs558436703
|
0.00001
|
NM_002103.5(GYS1):c.1385G>A (p.Arg462Gln)
|
rs774914573
|
0.00001
|
NM_002103.5(GYS1):c.1475A>T (p.Asp492Val)
|
rs949286022
|
0.00001
|
NM_002103.5(GYS1):c.1493G>A (p.Arg498His)
|
rs757918424
|
0.00001
|
NM_002103.5(GYS1):c.1544C>T (p.Thr515Ile)
|
rs1395831465
|
0.00001
|
NM_002103.5(GYS1):c.1547C>T (p.Pro516Leu)
|
rs907999376
|
0.00001
|
NM_002103.5(GYS1):c.1548G>A (p.Pro516=)
|
rs1460204907
|
0.00001
|
NM_002103.5(GYS1):c.1718G>A (p.Ser573Asn)
|
rs1207102551
|
0.00001
|
NM_002103.5(GYS1):c.1810-14C>T
|
rs2038529046
|
0.00001
|
NM_002103.5(GYS1):c.1810T>A (p.Tyr604Asn)
|
rs2038528451
|
0.00001
|
NM_002103.5(GYS1):c.1834G>C (p.Ala612Pro)
|
rs763358013
|
0.00001
|
NM_002103.5(GYS1):c.1859A>G (p.His620Arg)
|
rs2038526603
|
0.00001
|
NM_002103.5(GYS1):c.1870G>A (p.Glu624Lys)
|
rs757274657
|
0.00001
|
NM_002103.5(GYS1):c.1872G>A (p.Glu624=)
|
rs1421512196
|
0.00001
|
NM_002103.5(GYS1):c.1910C>T (p.Pro637Leu)
|
rs2038521859
|
0.00001
|
NM_002103.5(GYS1):c.1961C>T (p.Pro654Leu)
|
rs886054569
|
0.00001
|
NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp)
|
rs886054568
|
0.00001
|
NM_002103.5(GYS1):c.2008G>A (p.Glu670Lys)
|
rs1177489919
|
0.00001
|
NM_002103.5(GYS1):c.2009A>G (p.Glu670Gly)
|
rs1416976109
|
0.00001
|
NM_002103.5(GYS1):c.200C>T (p.Pro67Leu)
|
rs376369611
|
0.00001
|
NM_002103.5(GYS1):c.2012A>T (p.Asp671Val)
|
rs780892427
|
0.00001
|
NM_002103.5(GYS1):c.2017G>A (p.Glu673Lys)
|
rs1024472621
|
0.00001
|
NM_002103.5(GYS1):c.2027_2028del (p.Asp676fs)
|
rs2038518269
|
0.00001
|
NM_002103.5(GYS1):c.2038G>A (p.Glu680Lys)
|
rs754310863
|
0.00001
|
NM_002103.5(GYS1):c.2110A>G (p.Ser704Gly)
|
rs1201413420
|
0.00001
|
NM_002103.5(GYS1):c.216C>T (p.Gly72=)
|
rs773065230
|
0.00001
|
NM_002103.5(GYS1):c.217G>A (p.Val73Met)
|
rs370035815
|
0.00001
|
NM_002103.5(GYS1):c.21G>C (p.Leu7Phe)
|
rs1437155160
|
0.00001
|
NM_002103.5(GYS1):c.2203G>C (p.Glu735Gln)
|
rs546920953
|
0.00001
|
NM_002103.5(GYS1):c.2206C>T (p.Arg736Cys)
|
rs1369955206
|
0.00001
|
NM_002103.5(GYS1):c.2209A>T (p.Asn737Tyr)
|
rs1042146137
|
0.00001
|
NM_002103.5(GYS1):c.2214A>T (p.Ter738Tyr)
|
rs1310157370
|
0.00001
|
NM_002103.5(GYS1):c.278C>T (p.Ser93Phe)
|
rs754411503
|
0.00001
|
NM_002103.5(GYS1):c.300+3G>A
|
rs199823455
|
0.00001
|
NM_002103.5(GYS1):c.310G>A (p.Gly104Arg)
|
rs763807232
|
0.00001
|
NM_002103.5(GYS1):c.314G>A (p.Arg105His)
|
rs775388088
|
0.00001
|
NM_002103.5(GYS1):c.362C>T (p.Ala121Val)
|
rs778349716
|
0.00001
|
NM_002103.5(GYS1):c.383G>A (p.Arg128His)
|
rs755470149
|
0.00001
|
NM_002103.5(GYS1):c.418G>A (p.Gly140Arg)
|
rs754705699
|
0.00001
|
NM_002103.5(GYS1):c.448G>A (p.Asp150Asn)
|
rs548135246
|
0.00001
|
NM_002103.5(GYS1):c.505A>G (p.Ser169Gly)
|
rs2038838431
|
0.00001
|
NM_002103.5(GYS1):c.578C>T (p.Ala193Val)
|
rs750379099
|
0.00001
|
NM_002103.5(GYS1):c.581G>A (p.Arg194Gln)
|
rs1044957678
|
0.00001
|
NM_002103.5(GYS1):c.620C>T (p.Thr207Met)
|
rs760191000
|
0.00001
|
NM_002103.5(GYS1):c.683A>G (p.Asn228Ser)
|
rs761764430
|
0.00001
|
NM_002103.5(GYS1):c.754G>A (p.Ala252Thr)
|
rs376523274
|
0.00001
|
NM_002103.5(GYS1):c.760G>A (p.Val254Ile)
|
rs757728625
|
0.00001
|
NM_002103.5(GYS1):c.793G>A (p.Glu265Lys)
|
rs138606563
|
0.00001
|
NM_002103.5(GYS1):c.942-9G>A
|
rs762629200
|
0.00001
|
NC_000019.10:g.(?_48977904)_(48993132_?)dup
|
|
|
NC_000019.10:g.(?_48977914)_(48993363_?)dup
|
|
|
NC_000019.10:g.(?_48987184)_(48987395_?)del
|
|
|
NC_000019.9:g.(?_49472545)_(49486114_?)dup
|
|
|
NC_000019.9:g.(?_49472545)_(49496369_?)dup
|
|
|
NC_000019.9:g.(?_49481161)_(49489312_?)del
|
|
|
NC_000019.9:g.(?_49494539)_(49496369_?)dup
|
|
|
NM_002103.5(GYS1):c.*143C>G
|
rs995248958
|
|
NM_002103.5(GYS1):c.*26G>A
|
rs886054567
|
|
NM_002103.5(GYS1):c.*465G>A
|
rs2038501511
|
|
NM_002103.5(GYS1):c.*59A>T
|
rs973667510
|
|
NM_002103.5(GYS1):c.1007A>G (p.Asn336Ser)
|
|
|
NM_002103.5(GYS1):c.1015G>T (p.Ala339Ser)
|
rs2038777847
|
|
NM_002103.5(GYS1):c.1018G>A (p.Asp340Asn)
|
|
|
NM_002103.5(GYS1):c.1020C>A (p.Asp340Glu)
|
rs13306415
|
|
NM_002103.5(GYS1):c.1046T>C (p.Leu349Pro)
|
|
|
NM_002103.5(GYS1):c.1072A>G (p.Ser358Gly)
|
|
|
NM_002103.5(GYS1):c.1077_1078delinsAA (p.Gln360Lys)
|
rs2038765010
|
|
NM_002103.5(GYS1):c.1085T>C (p.Val362Ala)
|
|
|
NM_002103.5(GYS1):c.1087G>A (p.Val363Ile)
|
rs1309992388
|
|
NM_002103.5(GYS1):c.1127A>G (p.Asn376Ser)
|
rs2038763501
|
|
NM_002103.5(GYS1):c.1142A>C (p.Lys381Thr)
|
rs1363049243
|
|
NM_002103.5(GYS1):c.1144G>A (p.Gly382Ser)
|
rs1172290122
|
|
NM_002103.5(GYS1):c.1145G>A (p.Gly382Asp)
|
rs886054571
|
|
NM_002103.5(GYS1):c.1156C>T (p.Arg386Cys)
|
rs868354195
|
|
NM_002103.5(GYS1):c.1157G>A (p.Arg386His)
|
|
|
NM_002103.5(GYS1):c.1170-13C>T
|
rs886054570
|
|
NM_002103.5(GYS1):c.1190A>G (p.Lys397Arg)
|
rs1600138867
|
|
NM_002103.5(GYS1):c.1201G>A (p.Gly401Arg)
|
|
|
NM_002103.5(GYS1):c.1202G>A (p.Gly401Glu)
|
rs1056476850
|
|
NM_002103.5(GYS1):c.1255A>G (p.Met419Val)
|
|
|
NM_002103.5(GYS1):c.1278T>G (p.Thr426=)
|
rs2038685440
|
|
NM_002103.5(GYS1):c.1304C>T (p.Thr435Met)
|
|
|
NM_002103.5(GYS1):c.1315_1316delinsAA (p.Ser439Asn)
|
rs1600135048
|
|
NM_002103.5(GYS1):c.1324C>A (p.Pro442Thr)
|
rs142951866
|
|
NM_002103.5(GYS1):c.134C>T (p.Thr45Met)
|
rs1600154972
|
|
NM_002103.5(GYS1):c.1363C>A (p.Pro455Thr)
|
|
|
NM_002103.5(GYS1):c.1363C>T (p.Pro455Ser)
|
rs2038617042
|
|
NM_002103.5(GYS1):c.1377C>T (p.Thr459=)
|
rs2038616834
|
|
NM_002103.5(GYS1):c.1407T>A (p.Ser469Arg)
|
rs556352989
|
|
NM_002103.5(GYS1):c.1411G>A (p.Asp471Asn)
|
|
|
NM_002103.5(GYS1):c.1412A>G (p.Asp471Gly)
|
rs1306162963
|
|
NM_002103.5(GYS1):c.1423-3C>T
|
|
|
NM_002103.5(GYS1):c.1432C>T (p.His478Tyr)
|
rs2038611813
|
|
NM_002103.5(GYS1):c.1452_1454del (p.Thr485del)
|
rs764928908
|
|
NM_002103.5(GYS1):c.1473G>A (p.Val491=)
|
rs2038611070
|
|
NM_002103.5(GYS1):c.14G>A (p.Arg5His)
|
|
|
NM_002103.5(GYS1):c.150G>C (p.Lys50Asn)
|
|
|
NM_002103.5(GYS1):c.1528G>A (p.Glu510Lys)
|
rs1400682175
|
|
NM_002103.5(GYS1):c.1676G>A (p.Ser559Asn)
|
|
|
NM_002103.5(GYS1):c.1698G>A (p.Gln566=)
|
|
|
NM_002103.5(GYS1):c.169G>A (p.Glu57Lys)
|
|
|
NM_002103.5(GYS1):c.1744C>T (p.Arg582Cys)
|
rs770398662
|
|
NM_002103.5(GYS1):c.1763G>A (p.Arg588His)
|
|
|
NM_002103.5(GYS1):c.176G>A (p.Gly59Asp)
|
|
|
NM_002103.5(GYS1):c.1808G>C (p.Arg603Pro)
|
rs143040823
|
|
NM_002103.5(GYS1):c.1811A>G (p.Tyr604Cys)
|
|
|
NM_002103.5(GYS1):c.1814A>G (p.Tyr605Cys)
|
rs760423376
|
|
NM_002103.5(GYS1):c.1822G>A (p.Ala608Thr)
|
rs2038528076
|
|
NM_002103.5(GYS1):c.1823C>G (p.Ala608Gly)
|
rs767229493
|
|
NM_002103.5(GYS1):c.1825C>A (p.Arg609Ser)
|
rs957644060
|
|
NM_002103.5(GYS1):c.1826G>A (p.Arg609His)
|
|
|
NM_002103.5(GYS1):c.1835C>T (p.Ala612Val)
|
rs773394859
|
|
NM_002103.5(GYS1):c.1846G>T (p.Ala616Ser)
|
|
|
NM_002103.5(GYS1):c.1865C>T (p.Thr622Ile)
|
rs2038526450
|
|
NM_002103.5(GYS1):c.1882_1883delinsCT (p.Ala628Leu)
|
rs2122454338
|
|
NM_002103.5(GYS1):c.1890+1G>T
|
|
|
NM_002103.5(GYS1):c.1898G>T (p.Gly633Val)
|
rs764135201
|
|
NM_002103.5(GYS1):c.1909C>G (p.Pro637Ala)
|
rs1600128045
|
|
NM_002103.5(GYS1):c.1918G>T (p.Ala640Ser)
|
|
|
NM_002103.5(GYS1):c.1948C>T (p.Arg650Ter)
|
|
|
NM_002103.5(GYS1):c.1966C>T (p.Gln656Ter)
|
rs1199839572
|
|
NM_002103.5(GYS1):c.1985A>G (p.Asp662Gly)
|
rs2038519963
|
|
NM_002103.5(GYS1):c.1987C>T (p.Pro663Ser)
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|
|
NM_002103.5(GYS1):c.1994A>G (p.Asn665Ser)
|
|
|
NM_002103.5(GYS1):c.1995C>A (p.Asn665Lys)
|
|
|
NM_002103.5(GYS1):c.1A>C (p.Met1Leu)
|
rs748334413
|
|
NM_002103.5(GYS1):c.2021G>A (p.Arg674His)
|
rs779582211
|
|
NM_002103.5(GYS1):c.2032G>A (p.Asp678Asn)
|
rs2038518151
|
|
NM_002103.5(GYS1):c.2044G>A (p.Ala682Thr)
|
rs1419163800
|
|
NM_002103.5(GYS1):c.2056C>T (p.Arg686Cys)
|
|
|
NM_002103.5(GYS1):c.2057G>A (p.Arg686His)
|
rs1049444314
|
|
NM_002103.5(GYS1):c.2077T>A (p.Trp693Arg)
|
|
|
NM_002103.5(GYS1):c.2081C>G (p.Pro694Arg)
|
|
|
NM_002103.5(GYS1):c.2084_2085del (p.Arg695fs)
|
rs2122451939
|
|
NM_002103.5(GYS1):c.2089G>C (p.Ala697Pro)
|
|
|
NM_002103.5(GYS1):c.2096G>T (p.Cys699Phe)
|
rs928549424
|
|
NM_002103.5(GYS1):c.20T>C (p.Leu7Ser)
|
rs1298302518
|
|
NM_002103.5(GYS1):c.2132T>A (p.Val711Glu)
|
rs893694315
|
|
NM_002103.5(GYS1):c.2138C>T (p.Thr713Met)
|
rs771678316
|
|
NM_002103.5(GYS1):c.214G>T (p.Gly72Cys)
|
rs759776076
|
|
NM_002103.5(GYS1):c.2165del (p.Pro722fs)
|
rs757063983
|
|
NM_002103.5(GYS1):c.2168G>A (p.Ser723Asn)
|
rs1468841188
|
|
NM_002103.5(GYS1):c.2169C>A (p.Ser723Arg)
|
|
|
NM_002103.5(GYS1):c.2170G>A (p.Glu724Lys)
|
rs1053724936
|
|
NM_002103.5(GYS1):c.2182C>T (p.Pro728Ser)
|
|
|
NM_002103.5(GYS1):c.2198G>A (p.Gly733Asp)
|
rs2122451107
|
|
NM_002103.5(GYS1):c.2207del (p.Arg736fs)
|
rs2038513000
|
|
NM_002103.5(GYS1):c.221G>C (p.Arg74Thr)
|
rs1600154718
|
|
NM_002103.5(GYS1):c.235C>T (p.Leu79=)
|
rs886054573
|
|
NM_002103.5(GYS1):c.27G>C (p.Met9Ile)
|
rs1568628315
|
|
NM_002103.5(GYS1):c.289A>G (p.Lys97Glu)
|
rs764543224
|
|
NM_002103.5(GYS1):c.300G>A (p.Lys100=)
|
rs886054572
|
|
NM_002103.5(GYS1):c.324C>G (p.Ile108Met)
|
rs5455
|
|
NM_002103.5(GYS1):c.334C>T (p.Pro112Ser)
|
|
|
NM_002103.5(GYS1):c.382C>T (p.Arg128Cys)
|
|
|
NM_002103.5(GYS1):c.38C>T (p.Pro13Leu)
|
rs2122550059
|
|
NM_002103.5(GYS1):c.3G>T (p.Met1Ile)
|
rs758161697
|
|
NM_002103.5(GYS1):c.40G>C (p.Gly14Arg)
|
rs753758690
|
|
NM_002103.5(GYS1):c.410G>A (p.Cys137Tyr)
|
rs2038856931
|
|
NM_002103.5(GYS1):c.417C>T (p.Ile139=)
|
rs758550328
|
|
NM_002103.5(GYS1):c.437G>A (p.Arg146His)
|
|
|
NM_002103.5(GYS1):c.448G>T (p.Asp150Tyr)
|
rs548135246
|
|
NM_002103.5(GYS1):c.457C>G (p.Leu153Val)
|
|
|
NM_002103.5(GYS1):c.488G>T (p.Gly163Val)
|
|
|
NM_002103.5(GYS1):c.495C>G (p.Phe165Leu)
|
|
|
NM_002103.5(GYS1):c.517C>G (p.Pro173Ala)
|
|
|
NM_002103.5(GYS1):c.524T>C (p.Val175Ala)
|
rs1432620791
|
|
NM_002103.5(GYS1):c.568C>G (p.Leu190Val)
|
rs1345491779
|
|
NM_002103.5(GYS1):c.56A>T (p.Glu19Val)
|
rs2122549955
|
|
NM_002103.5(GYS1):c.580C>T (p.Arg194Trp)
|
rs1455481597
|
|
NM_002103.5(GYS1):c.601A>G (p.Ile201Val)
|
|
|
NM_002103.5(GYS1):c.646G>A (p.Gly216Ser)
|
rs141601517
|
|
NM_002103.5(GYS1):c.647G>C (p.Gly216Ala)
|
rs2038835260
|
|
NM_002103.5(GYS1):c.650C>T (p.Ala217Val)
|
rs148365002
|
|
NM_002103.5(GYS1):c.652G>C (p.Val218Leu)
|
rs771977818
|
|
NM_002103.5(GYS1):c.661T>G (p.Tyr221Asp)
|
|
|
NM_002103.5(GYS1):c.666C>A (p.Asn222Lys)
|
rs201548356
|
|
NM_002103.5(GYS1):c.666C>G (p.Asn222Lys)
|
rs201548356
|
|
NM_002103.5(GYS1):c.67G>A (p.Asp23Asn)
|
|
|
NM_002103.5(GYS1):c.704A>T (p.Glu235Val)
|
rs2038830108
|
|
NM_002103.5(GYS1):c.797C>T (p.Ala266Val)
|
rs1253678206
|
|
NM_002103.5(GYS1):c.827T>C (p.Ile276Thr)
|
rs2038788050
|
|
NM_002103.5(GYS1):c.853AAG[1] (p.Lys286del)
|
rs760885403
|
|
NM_002103.5(GYS1):c.872A>G (p.His291Arg)
|
rs967075263
|
|
NM_002103.5(GYS1):c.892G>A (p.Ala298Thr)
|
|
|
NM_002103.5(GYS1):c.908G>A (p.Arg303Gln)
|
|
|
NM_002103.5(GYS1):c.926G>A (p.Arg309Gln)
|
rs1183870445
|
|
NM_002103.5(GYS1):c.941+5G>A
|
|
|
NM_002103.5(GYS1):c.944A>T (p.His315Leu)
|
rs1432327187
|
|
NM_002103.5(GYS1):c.985G>A (p.Ala329Thr)
|
|
|
NM_002103.5(GYS1):c.988G>C (p.Gly330Arg)
|
|
|
NM_002103.5(GYS1):c.98C>G (p.Ala33Gly)
|
|
|
NM_002103.5(GYS1):c.992G>C (p.Arg331Pro)
|
rs1280294667
|
|