NM_024996.7(GFM1):c.*226C>T
|
rs1047366
|
0.58206
|
NM_024996.7(GFM1):c.643G>A (p.Val215Ile)
|
rs2303909
|
0.58201
|
NM_024996.7(GFM1):c.18T>C (p.Ala6=)
|
rs1864507
|
0.58169
|
NM_024996.7(GFM1):c.998+150G>A
|
rs9858849
|
0.42309
|
NM_024996.7(GFM1):c.1324-267G>A
|
rs9878187
|
0.42275
|
NM_024996.7(GFM1):c.*6C>T
|
rs1047355
|
0.42265
|
NM_024996.7(GFM1):c.1083+82T>C
|
rs9884039
|
0.42175
|
NM_024996.7(GFM1):c.81+84C>G
|
rs1864505
|
0.41996
|
NM_024996.7(GFM1):c.*691T>A
|
rs8650
|
0.41638
|
NM_024996.7(GFM1):c.690-87A>G
|
rs9810874
|
0.41611
|
NM_024996.7(GFM1):c.81+22A>G
|
rs1864506
|
0.36311
|
NM_024996.7(GFM1):c.1083+57C>T
|
rs62286656
|
0.36155
|
NM_024996.7(GFM1):c.368-199G>A
|
rs56075263
|
0.18998
|
NM_024996.7(GFM1):c.689+891C>T
|
rs56167308
|
0.17770
|
NM_024996.7(GFM1):c.1765-298A>G
|
rs62288305
|
0.17745
|
NM_024996.7(GFM1):c.841-224C>T
|
rs55666734
|
0.17738
|
NM_024996.7(GFM1):c.-33C>T
|
rs28372852
|
0.17657
|
NM_024996.7(GFM1):c.690-96T>A
|
rs56362855
|
0.17621
|
NM_024996.5(GFM1):c.-386G>T
|
rs3806642
|
0.16243
|
NM_024996.7(GFM1):c.689+611A>G
|
rs73156455
|
0.15887
|
NM_024996.7(GFM1):c.1323+83A>G
|
rs2291595
|
0.15507
|
NM_024996.7(GFM1):c.367+223C>T
|
rs2303910
|
0.12733
|
NM_024996.7(GFM1):c.1323+72A>G
|
rs2291594
|
0.10832
|
NM_024996.7(GFM1):c.840+108C>G
|
rs55992564
|
0.02915
|
NM_024996.7(GFM1):c.234+187A>G
|
rs78679143
|
0.02441
|
NM_024996.7(GFM1):c.*713C>T
|
rs16829307
|
0.02430
|
NM_024996.7(GFM1):c.*483_*484insTA
|
rs10662631
|
0.01750
|
NM_024996.7(GFM1):c.1380+221T>A
|
rs73028945
|
0.01750
|
NM_024996.7(GFM1):c.999-221A>T
|
rs78050260
|
0.01725
|
NM_024996.7(GFM1):c.-11C>T
|
rs112860155
|
0.01649
|
NM_024996.7(GFM1):c.1909+232A>C
|
rs115801127
|
0.01477
|
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile)
|
rs62288347
|
0.01464
|
NM_024996.7(GFM1):c.689+1184A>G
|
rs142355183
|
0.01366
|
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser)
|
rs34297061
|
0.01238
|
NM_024996.7(GFM1):c.1601+9G>C
|
rs77186707
|
0.01234
|
NM_024996.7(GFM1):c.1083+6T>G
|
rs142919829
|
0.00940
|
NM_024996.7(GFM1):c.1209C>T (p.Ala403=)
|
rs149949638
|
0.00889
|
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)
|
rs35942089
|
0.00886
|
NM_024996.7(GFM1):c.-31A>G
|
rs28372853
|
0.00742
|
NM_024996.7(GFM1):c.*766G>T
|
rs114751518
|
0.00689
|
NM_024996.7(GFM1):c.2071-17A>G
|
rs76679758
|
0.00671
|
NM_024996.7(GFM1):c.1519-33A>T
|
rs138856342
|
0.00566
|
NM_024996.7(GFM1):c.840+317T>C
|
rs186196590
|
0.00564
|
NM_024996.7(GFM1):c.*539C>T
|
rs75254073
|
0.00563
|
NM_024996.7(GFM1):c.368-177G>A
|
rs143692807
|
0.00520
|
NM_024996.7(GFM1):c.1222-321A>G
|
rs184609675
|
0.00517
|
NM_024996.7(GFM1):c.568A>C (p.Met190Leu)
|
rs75450876
|
0.00510
|
NM_024996.7(GFM1):c.368-18A>G
|
rs185654103
|
0.00478
|
NM_024996.7(GFM1):c.1593C>T (p.Ala531=)
|
rs114754676
|
0.00399
|
NM_024996.7(GFM1):c.1765-94C>T
|
rs143940766
|
0.00393
|
NM_024996.7(GFM1):c.1221+222T>C
|
rs145106063
|
0.00380
|
NM_024996.7(GFM1):c.1381-39C>T
|
rs116646562
|
0.00356
|
NM_024996.7(GFM1):c.1221+203G>A
|
rs116781201
|
0.00319
|
NM_024996.7(GFM1):c.1764+11A>T
|
rs199739357
|
0.00248
|
NM_024996.7(GFM1):c.1909+41A>G
|
rs114335950
|
0.00245
|
NM_024996.7(GFM1):c.960A>C (p.Pro320=)
|
rs145970222
|
0.00196
|
NM_024996.7(GFM1):c.2190C>T (p.Asp730=)
|
rs149049400
|
0.00185
|
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)
|
rs115984741
|
0.00158
|
NM_024996.7(GFM1):c.220G>T (p.Ala74Ser)
|
rs140377587
|
0.00155
|
NM_024996.7(GFM1):c.2125-22_2125-20del
|
rs780231789
|
0.00135
|
NM_024996.7(GFM1):c.*950C>T
|
rs372706819
|
0.00124
|
NM_024996.7(GFM1):c.690-5C>G
|
rs201685981
|
0.00124
|
NM_024996.7(GFM1):c.*1004T>C
|
rs190120734
|
0.00117
|
NM_024996.7(GFM1):c.2070+11T>G
|
rs150000838
|
0.00100
|
NM_024996.7(GFM1):c.235-85G>C
|
rs181367389
|
0.00086
|
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly)
|
rs146951325
|
0.00080
|
NM_024996.7(GFM1):c.667A>G (p.Ile223Val)
|
rs143446452
|
0.00078
|
NM_024996.7(GFM1):c.*731C>T
|
rs189114088
|
0.00074
|
NM_024996.7(GFM1):c.1324-15T>A
|
rs375168014
|
0.00057
|
NM_024996.7(GFM1):c.82-118A>G
|
rs140204632
|
0.00057
|
NM_024996.7(GFM1):c.235-14G>A
|
rs201304690
|
0.00053
|
NM_024996.7(GFM1):c.368-34T>A
|
rs527243547
|
0.00044
|
NM_024996.7(GFM1):c.690-40G>A
|
rs180934936
|
0.00041
|
NM_024996.7(GFM1):c.*116C>T
|
rs115593809
|
0.00039
|
NM_024996.7(GFM1):c.-38C>T
|
rs377352238
|
0.00037
|
NM_024996.7(GFM1):c.1032C>T (p.Asn344=)
|
rs373952002
|
0.00036
|
NM_024996.7(GFM1):c.2143A>G (p.Met715Val)
|
rs147620098
|
0.00034
|
NM_024996.7(GFM1):c.1683A>G (p.Pro561=)
|
rs78044539
|
0.00031
|
NM_024996.7(GFM1):c.1494A>G (p.Glu498=)
|
rs149454742
|
0.00029
|
NM_024996.7(GFM1):c.1102T>C (p.Leu368=)
|
rs142843314
|
0.00027
|
NM_024996.7(GFM1):c.1457C>T (p.Thr486Ile)
|
rs199976922
|
0.00027
|
NM_024996.7(GFM1):c.1831C>T (p.Leu611=)
|
rs190393538
|
0.00026
|
NM_024996.7(GFM1):c.2071-20T>C
|
rs531105833
|
0.00025
|
NM_024996.7(GFM1):c.1782C>T (p.Cys594=)
|
rs141903395
|
0.00024
|
NM_024996.7(GFM1):c.373G>A (p.Val125Met)
|
rs200923387
|
0.00023
|
NM_024996.7(GFM1):c.1305C>G (p.Ala435=)
|
rs141368418
|
0.00021
|
NM_024996.7(GFM1):c.491G>A (p.Arg164His)
|
rs200727254
|
0.00021
|
NM_024996.7(GFM1):c.490C>T (p.Arg164Cys)
|
rs182569165
|
0.00019
|
NM_024996.7(GFM1):c.689+884T>C
|
rs553012731
|
0.00019
|
NM_024996.7(GFM1):c.*9A>G
|
rs372245257
|
0.00016
|
NM_024996.7(GFM1):c.731C>T (p.Ala244Val)
|
rs150903461
|
0.00015
|
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)
|
rs191462023
|
0.00014
|
NM_024996.7(GFM1):c.*429C>T
|
rs914802350
|
0.00012
|
NM_024996.7(GFM1):c.597G>A (p.Ala199=)
|
rs148209578
|
0.00011
|
NM_024996.7(GFM1):c.*1033A>G
|
rs919876624
|
0.00010
|
NM_024996.7(GFM1):c.998+15T>C
|
rs368676387
|
0.00010
|
NM_024996.7(GFM1):c.1091G>A (p.Arg364Gln)
|
rs140490191
|
0.00008
|
NM_024996.7(GFM1):c.1368G>A (p.Lys456=)
|
rs774280744
|
0.00008
|
NM_024996.7(GFM1):c.1948A>G (p.Met650Val)
|
rs147847472
|
0.00008
|
NM_024996.7(GFM1):c.465C>T (p.Thr155=)
|
rs747922606
|
0.00008
|
NM_024996.7(GFM1):c.2059C>T (p.Leu687=)
|
rs771619705
|
0.00007
|
NM_024996.7(GFM1):c.*164C>A
|
rs924668466
|
0.00006
|
NM_024996.7(GFM1):c.*578C>T
|
rs758670778
|
0.00006
|
NM_024996.7(GFM1):c.1110T>C (p.Tyr370=)
|
rs748969531
|
0.00006
|
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)
|
rs201408725
|
0.00006
|
NM_024996.7(GFM1):c.88T>G (p.Trp30Gly)
|
rs760733794
|
0.00006
|
NM_024996.7(GFM1):c.1132C>G (p.Leu378Val)
|
rs755804836
|
0.00005
|
NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys)
|
rs374335959
|
0.00005
|
NM_024996.7(GFM1):c.1236A>G (p.Val412=)
|
rs749803761
|
0.00005
|
NM_024996.7(GFM1):c.1311C>T (p.Ser437=)
|
rs199976566
|
0.00005
|
NM_024996.7(GFM1):c.234+12C>T
|
rs372189223
|
0.00005
|
NM_024996.7(GFM1):c.551C>T (p.Ala184Val)
|
rs766455806
|
0.00005
|
NM_024996.7(GFM1):c.705T>C (p.Tyr235=)
|
rs201360324
|
0.00005
|
NM_024996.7(GFM1):c.850C>T (p.Arg284Ter)
|
rs771890880
|
0.00005
|
NM_024996.7(GFM1):c.898G>A (p.Ala300Thr)
|
rs753396715
|
0.00005
|
NM_024996.7(GFM1):c.1114C>T (p.Arg372Cys)
|
rs544389920
|
0.00004
|
NM_024996.7(GFM1):c.1116C>T (p.Arg372=)
|
rs750555672
|
0.00004
|
NM_024996.7(GFM1):c.1201A>G (p.Met401Val)
|
rs140888276
|
0.00004
|
NM_024996.7(GFM1):c.1213A>G (p.Met405Val)
|
rs369426408
|
0.00004
|
NM_024996.7(GFM1):c.1377C>T (p.Asn459=)
|
rs373098153
|
0.00004
|
NM_024996.7(GFM1):c.1383C>T (p.Asn461=)
|
rs774976760
|
0.00004
|
NM_024996.7(GFM1):c.1544C>T (p.Pro515Leu)
|
rs752809047
|
0.00004
|
NM_024996.7(GFM1):c.1585A>G (p.Ile529Val)
|
rs754010121
|
0.00004
|
NM_024996.7(GFM1):c.2125-17T>C
|
rs550578105
|
0.00004
|
NM_024996.7(GFM1):c.234+19T>A
|
rs200723497
|
0.00004
|
NM_024996.7(GFM1):c.368-12C>A
|
rs371315898
|
0.00004
|
NM_024996.7(GFM1):c.596C>T (p.Ala199Val)
|
rs145247687
|
0.00004
|
NM_024996.7(GFM1):c.690-17A>G
|
rs373030031
|
0.00004
|
NM_024996.7(GFM1):c.97T>C (p.Cys33Arg)
|
rs762132920
|
0.00004
|
NM_024996.7(GFM1):c.1083+8G>T
|
rs753905803
|
0.00003
|
NM_024996.7(GFM1):c.1084-18C>A
|
rs369066826
|
0.00003
|
NM_024996.7(GFM1):c.1369C>T (p.Pro457Ser)
|
rs369399450
|
0.00003
|
NM_024996.7(GFM1):c.1381-9C>G
|
rs138452652
|
0.00003
|
NM_024996.7(GFM1):c.1704A>G (p.Glu568=)
|
rs756847811
|
0.00003
|
NM_024996.7(GFM1):c.1738A>G (p.Lys580Glu)
|
rs370262627
|
0.00003
|
NM_024996.7(GFM1):c.1765-2_1765-1del
|
rs1245712932
|
0.00003
|
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln)
|
rs541171482
|
0.00003
|
NM_024996.7(GFM1):c.1852A>G (p.Met618Val)
|
rs767798328
|
0.00003
|
NM_024996.7(GFM1):c.1893A>G (p.Glu631=)
|
rs749437754
|
0.00003
|
NM_024996.7(GFM1):c.1909+14G>A
|
rs542222365
|
0.00003
|
NM_024996.7(GFM1):c.2012G>A (p.Arg671His)
|
rs780073215
|
0.00003
|
NM_024996.7(GFM1):c.2129A>G (p.Lys710Arg)
|
rs201319759
|
0.00003
|
NM_024996.7(GFM1):c.690-19A>G
|
rs551478401
|
0.00003
|
NM_024996.7(GFM1):c.702A>G (p.Arg234=)
|
rs377418512
|
0.00003
|
NM_024996.7(GFM1):c.703T>A (p.Tyr235Asn)
|
rs760959060
|
0.00003
|
NM_024996.7(GFM1):c.720del (p.Glu241fs)
|
rs745718158
|
0.00003
|
NM_024996.7(GFM1):c.840+4A>G
|
rs538662087
|
0.00003
|
NM_024996.7(GFM1):c.997_998+2del
|
rs763084523
|
0.00003
|
NM_024996.7(GFM1):c.*119G>A
|
rs886058122
|
0.00002
|
NM_024996.7(GFM1):c.1056A>G (p.Pro352=)
|
rs766172439
|
0.00002
|
NM_024996.7(GFM1):c.1084-15A>C
|
rs375713350
|
0.00002
|
NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer)
|
rs866873846
|
0.00002
|
NM_024996.7(GFM1):c.1181G>A (p.Arg394Gln)
|
rs754435236
|
0.00002
|
NM_024996.7(GFM1):c.1222-13T>C
|
rs781510424
|
0.00002
|
NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs)
|
rs753352064
|
0.00002
|
NM_024996.7(GFM1):c.1263T>C (p.Phe421=)
|
rs138844033
|
0.00002
|
NM_024996.7(GFM1):c.1299C>T (p.Asp433=)
|
rs751124729
|
0.00002
|
NM_024996.7(GFM1):c.1371T>C (p.Pro457=)
|
rs766967154
|
0.00002
|
NM_024996.7(GFM1):c.1434C>T (p.Pro478=)
|
rs1167168446
|
0.00002
|
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)
|
rs1004779078
|
0.00002
|
NM_024996.7(GFM1):c.1577G>A (p.Arg526Gln)
|
rs561293948
|
0.00002
|
NM_024996.7(GFM1):c.1602-14T>A
|
rs768699641
|
0.00002
|
NM_024996.7(GFM1):c.1626A>G (p.Gln542=)
|
rs139042191
|
0.00002
|
NM_024996.7(GFM1):c.1665C>A (p.Val555=)
|
rs779565754
|
0.00002
|
NM_024996.7(GFM1):c.171T>C (p.Ser57=)
|
rs1047319252
|
0.00002
|
NM_024996.7(GFM1):c.1881C>T (p.Ile627=)
|
rs149784185
|
0.00002
|
NM_024996.7(GFM1):c.2100C>T (p.Ser700=)
|
rs779651895
|
0.00002
|
NM_024996.7(GFM1):c.344A>G (p.Asn115Ser)
|
rs779253646
|
0.00002
|
NM_024996.7(GFM1):c.368-2A>G
|
rs1416173655
|
0.00002
|
NM_024996.7(GFM1):c.441T>A (p.Ala147=)
|
rs750553704
|
0.00002
|
NM_024996.7(GFM1):c.51C>T (p.Ala17=)
|
rs937454854
|
0.00002
|
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)
|
rs119470018
|
0.00002
|
NM_024996.7(GFM1):c.595G>T (p.Ala199Ser)
|
rs759781532
|
0.00002
|
NM_024996.7(GFM1):c.661C>T (p.Arg221Ter)
|
rs780762234
|
0.00002
|
NM_024996.7(GFM1):c.689+908G>A
|
rs751069628
|
0.00002
|
NM_024996.7(GFM1):c.744C>T (p.Asp248=)
|
rs1284932610
|
0.00002
|
NM_024996.7(GFM1):c.754G>A (p.Glu252Lys)
|
rs150024625
|
0.00002
|
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg)
|
rs574200635
|
0.00002
|
NM_024996.7(GFM1):c.851G>A (p.Arg284Gln)
|
rs965034653
|
0.00002
|
NM_024996.7(GFM1):c.930A>G (p.Leu310=)
|
rs780573696
|
0.00002
|
NM_024996.7(GFM1):c.982A>G (p.Ile328Val)
|
rs1314347411
|
0.00002
|
NM_024996.7(GFM1):c.*559T>C
|
rs886058124
|
0.00001
|
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)
|
rs766234016
|
0.00001
|
NM_024996.7(GFM1):c.1014A>G (p.Lys338=)
|
rs746874606
|
0.00001
|
NM_024996.7(GFM1):c.1035C>T (p.Ser345=)
|
rs1478416386
|
0.00001
|
NM_024996.7(GFM1):c.1046A>G (p.Asn349Ser)
|
rs1019230632
|
0.00001
|
NM_024996.7(GFM1):c.1074T>C (p.Phe358=)
|
rs1722593851
|
0.00001
|
NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter)
|
rs775919783
|
0.00001
|
NM_024996.7(GFM1):c.1096_1099del (p.Gly366fs)
|
rs1359346386
|
0.00001
|
NM_024996.7(GFM1):c.1118G>A (p.Ser373Asn)
|
rs1023544297
|
0.00001
|
NM_024996.7(GFM1):c.1143T>C (p.Gly381=)
|
rs1181456308
|
0.00001
|
NM_024996.7(GFM1):c.1152C>A (p.Ile384=)
|
rs753785924
|
0.00001
|
NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp)
|
rs183140307
|
0.00001
|
NM_024996.7(GFM1):c.1207G>A (p.Ala403Thr)
|
rs376739111
|
0.00001
|
NM_024996.7(GFM1):c.1212C>T (p.Asp404=)
|
rs1453811651
|
0.00001
|
NM_024996.7(GFM1):c.1221+20G>A
|
rs1412836196
|
0.00001
|
NM_024996.7(GFM1):c.1221+8C>T
|
rs774367563
|
0.00001
|
NM_024996.7(GFM1):c.1222-9T>C
|
rs1217978272
|
0.00001
|
NM_024996.7(GFM1):c.1242C>T (p.Ala414=)
|
rs575709528
|
0.00001
|
NM_024996.7(GFM1):c.1290A>G (p.Thr430=)
|
rs758385498
|
0.00001
|
NM_024996.7(GFM1):c.130G>A (p.Glu44Lys)
|
rs777347506
|
0.00001
|
NM_024996.7(GFM1):c.1324-14A>T
|
rs1161606940
|
0.00001
|
NM_024996.7(GFM1):c.1350C>T (p.Val450=)
|
rs1359608487
|
0.00001
|
NM_024996.7(GFM1):c.1363A>G (p.Met455Val)
|
rs769036266
|
0.00001
|
NM_024996.7(GFM1):c.137T>A (p.Ile46Lys)
|
rs770594695
|
0.00001
|
NM_024996.7(GFM1):c.1380+11G>A
|
rs1409443617
|
0.00001
|
NM_024996.7(GFM1):c.1380+9T>C
|
rs1723290057
|
0.00001
|
NM_024996.7(GFM1):c.1381-11T>C
|
rs2474006645
|
0.00001
|
NM_024996.7(GFM1):c.1381-15C>A
|
rs1308628311
|
0.00001
|
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter)
|
rs119470019
|
0.00001
|
NM_024996.7(GFM1):c.1401A>G (p.Ser467=)
|
rs765609624
|
0.00001
|
NM_024996.7(GFM1):c.1429G>T (p.Asp477Tyr)
|
rs138058648
|
0.00001
|
NM_024996.7(GFM1):c.1468G>A (p.Glu490Lys)
|
rs1560135430
|
0.00001
|
NM_024996.7(GFM1):c.1473A>G (p.Thr491=)
|
rs768162325
|
0.00001
|
NM_024996.7(GFM1):c.1519-19T>C
|
rs762729391
|
0.00001
|
NM_024996.7(GFM1):c.1539C>T (p.Gly513=)
|
rs1723675930
|
0.00001
|
NM_024996.7(GFM1):c.153C>G (p.Ile51Met)
|
rs1382717856
|
0.00001
|
NM_024996.7(GFM1):c.1596del (p.Val533fs)
|
rs761095873
|
0.00001
|
NM_024996.7(GFM1):c.1600C>T (p.Pro534Ser)
|
rs1023429010
|
0.00001
|
NM_024996.7(GFM1):c.1601+13C>T
|
rs199671232
|
0.00001
|
NM_024996.7(GFM1):c.1601C>T (p.Pro534Leu)
|
rs780929821
|
0.00001
|
NM_024996.7(GFM1):c.1617T>C (p.His539=)
|
rs1010938694
|
0.00001
|
NM_024996.7(GFM1):c.1686G>A (p.Glu562=)
|
rs763666956
|
0.00001
|
NM_024996.7(GFM1):c.168T>C (p.Asp56=)
|
rs768555221
|
0.00001
|
NM_024996.7(GFM1):c.1707T>C (p.Phe569=)
|
rs146367444
|
0.00001
|
NM_024996.7(GFM1):c.1765-12A>C
|
rs749494927
|
0.00001
|
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)
|
rs762576741
|
0.00001
|
NM_024996.7(GFM1):c.1830C>T (p.Val610=)
|
rs139680551
|
0.00001
|
NM_024996.7(GFM1):c.183A>G (p.Thr61=)
|
rs762075778
|
0.00001
|
NM_024996.7(GFM1):c.1851C>T (p.His617=)
|
rs866662738
|
0.00001
|
NM_024996.7(GFM1):c.185T>G (p.Leu62Ter)
|
rs774252647
|
0.00001
|
NM_024996.7(GFM1):c.1863T>C (p.Ser621=)
|
rs1440839598
|
0.00001
|
NM_024996.7(GFM1):c.1878del (p.Phe626fs)
|
rs1225913995
|
0.00001
|
NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter)
|
rs889180452
|
0.00001
|
NM_024996.7(GFM1):c.1910-1G>A
|
rs1462851267
|
0.00001
|
NM_024996.7(GFM1):c.1910-2A>T
|
rs867885977
|
0.00001
|
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu)
|
rs1390685552
|
0.00001
|
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter)
|
rs1402362655
|
0.00001
|
NM_024996.7(GFM1):c.2009G>A (p.Arg670Gln)
|
rs373776747
|
0.00001
|
NM_024996.7(GFM1):c.2013C>T (p.Arg671=)
|
rs751838208
|
0.00001
|
NM_024996.7(GFM1):c.2016T>C (p.His672=)
|
rs755853174
|
0.00001
|
NM_024996.7(GFM1):c.2028T>A (p.Thr676=)
|
rs1237200176
|
0.00001
|
NM_024996.7(GFM1):c.2055T>C (p.Phe685=)
|
rs1262289605
|
0.00001
|
NM_024996.7(GFM1):c.2061G>C (p.Leu687=)
|
rs1726209494
|
0.00001
|
NM_024996.7(GFM1):c.2064del (p.Leu687_Tyr688insTer)
|
rs1726209700
|
0.00001
|
NM_024996.7(GFM1):c.2070+7A>G
|
rs1466013549
|
0.00001
|
NM_024996.7(GFM1):c.2079A>G (p.Leu693=)
|
rs568923049
|
0.00001
|
NM_024996.7(GFM1):c.2097T>G (p.Tyr699Ter)
|
rs955729561
|
0.00001
|
NM_024996.7(GFM1):c.2121A>C (p.Thr707=)
|
rs564186705
|
0.00001
|
NM_024996.7(GFM1):c.2125-6C>A
|
rs749756300
|
0.00001
|
NM_024996.7(GFM1):c.2130G>A (p.Lys710=)
|
rs757217156
|
0.00001
|
NM_024996.7(GFM1):c.2139C>T (p.Tyr713=)
|
rs1380540385
|
0.00001
|
NM_024996.7(GFM1):c.2151T>C (p.Tyr717=)
|
rs576925510
|
0.00001
|
NM_024996.7(GFM1):c.2163G>A (p.Gln721=)
|
rs760939614
|
0.00001
|
NM_024996.7(GFM1):c.2165C>T (p.Pro722Leu)
|
rs764933537
|
0.00001
|
NM_024996.7(GFM1):c.2167T>C (p.Cys723Arg)
|
rs750287727
|
0.00001
|
NM_024996.7(GFM1):c.2170T>C (p.Leu724=)
|
rs1255299845
|
0.00001
|
NM_024996.7(GFM1):c.21A>G (p.Ala7=)
|
rs1272153245
|
0.00001
|
NM_024996.7(GFM1):c.2215A>C (p.Thr739Pro)
|
rs201634749
|
0.00001
|
NM_024996.7(GFM1):c.228G>T (p.Met76Ile)
|
rs746234485
|
0.00001
|
NM_024996.7(GFM1):c.234+17G>A
|
rs532180547
|
0.00001
|
NM_024996.7(GFM1):c.235-7T>C
|
rs1273972863
|
0.00001
|
NM_024996.7(GFM1):c.268G>C (p.Asp90His)
|
rs781700550
|
0.00001
|
NM_024996.7(GFM1):c.279A>G (p.Glu93=)
|
rs908378995
|
0.00001
|
NM_024996.7(GFM1):c.28G>T (p.Ala10Ser)
|
rs539498045
|
0.00001
|
NM_024996.7(GFM1):c.294A>G (p.Arg98=)
|
rs371977811
|
0.00001
|
NM_024996.7(GFM1):c.303T>C (p.Thr101=)
|
rs1304478706
|
0.00001
|
NM_024996.7(GFM1):c.336A>G (p.Lys112=)
|
rs1323168771
|
0.00001
|
NM_024996.7(GFM1):c.360T>C (p.Asp120=)
|
rs1339033663
|
0.00001
|
NM_024996.7(GFM1):c.367+11T>G
|
rs776444859
|
0.00001
|
NM_024996.7(GFM1):c.367+13C>G
|
rs761692289
|
0.00001
|
NM_024996.7(GFM1):c.367+14T>C
|
rs745537487
|
0.00001
|
NM_024996.7(GFM1):c.367+15T>G
|
rs373371132
|
0.00001
|
NM_024996.7(GFM1):c.367+3G>A
|
rs1721798070
|
0.00001
|
NM_024996.7(GFM1):c.367+7T>C
|
rs1438449859
|
0.00001
|
NM_024996.7(GFM1):c.368-6A>T
|
rs769610645
|
0.00001
|
NM_024996.7(GFM1):c.401_404dup (p.Arg136fs)
|
rs1174797887
|
0.00001
|
NM_024996.7(GFM1):c.406A>G (p.Arg136Gly)
|
rs759213430
|
0.00001
|
NM_024996.7(GFM1):c.409G>A (p.Val137Met)
|
rs767325554
|
0.00001
|
NM_024996.7(GFM1):c.424del (p.Val142fs)
|
rs886058120
|
0.00001
|
NM_024996.7(GFM1):c.426C>T (p.Val142=)
|
rs1313735825
|
0.00001
|
NM_024996.7(GFM1):c.443T>C (p.Val148Ala)
|
rs758591202
|
0.00001
|
NM_024996.7(GFM1):c.455A>C (p.Gln152Pro)
|
rs780319278
|
0.00001
|
NM_024996.7(GFM1):c.498C>T (p.Asn166=)
|
rs762364300
|
0.00001
|
NM_024996.7(GFM1):c.502C>T (p.Pro168Ser)
|
rs1333867171
|
0.00001
|
NM_024996.7(GFM1):c.516T>C (p.Phe172=)
|
rs921998143
|
0.00001
|
NM_024996.7(GFM1):c.54C>T (p.Pro18=)
|
rs776007974
|
0.00001
|
NM_024996.7(GFM1):c.572+15A>C
|
rs536611186
|
0.00001
|
NM_024996.7(GFM1):c.572+7A>G
|
rs749083761
|
0.00001
|
NM_024996.7(GFM1):c.572+9C>A
|
rs377342697
|
0.00001
|
NM_024996.7(GFM1):c.575C>A (p.Ser192Tyr)
|
rs143154148
|
0.00001
|
NM_024996.7(GFM1):c.607A>G (p.Ile203Val)
|
rs1722079229
|
0.00001
|
NM_024996.7(GFM1):c.628A>G (p.Asn210Asp)
|
rs1188899883
|
0.00001
|
NM_024996.7(GFM1):c.62T>C (p.Leu21Pro)
|
rs777558130
|
0.00001
|
NM_024996.7(GFM1):c.662G>A (p.Arg221Gln)
|
rs747846743
|
0.00001
|
NM_024996.7(GFM1):c.666C>T (p.Ala222=)
|
rs552924991
|
0.00001
|
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)
|
rs774456344
|
0.00001
|
NM_024996.7(GFM1):c.689+1G>A
|
rs1449057162
|
0.00001
|
NM_024996.7(GFM1):c.689+20T>G
|
rs767650612
|
0.00001
|
NM_024996.7(GFM1):c.690-18A>G
|
rs898169717
|
0.00001
|
NM_024996.7(GFM1):c.690-7T>C
|
rs567208295
|
0.00001
|
NM_024996.7(GFM1):c.691C>T (p.Gln231Ter)
|
rs1222939065
|
0.00001
|
NM_024996.7(GFM1):c.69G>A (p.Trp23Ter)
|
rs763344414
|
0.00001
|
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)
|
rs863224032
|
0.00001
|
NM_024996.7(GFM1):c.724T>C (p.Leu242=)
|
rs2108016772
|
0.00001
|
NM_024996.7(GFM1):c.735G>A (p.Ala245=)
|
rs766213740
|
0.00001
|
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)
|
rs139430866
|
0.00001
|
NM_024996.7(GFM1):c.753G>A (p.Gln251=)
|
rs1270171913
|
0.00001
|
NM_024996.7(GFM1):c.762T>A (p.Ile254=)
|
rs1187857090
|
0.00001
|
NM_024996.7(GFM1):c.776A>G (p.Asn259Ser)
|
rs375512235
|
0.00001
|
NM_024996.7(GFM1):c.807G>A (p.Leu269=)
|
rs879807884
|
0.00001
|
NM_024996.7(GFM1):c.81+18G>A
|
rs1377938684
|
0.00001
|
NM_024996.7(GFM1):c.81+1G>A
|
rs1262218849
|
0.00001
|
NM_024996.7(GFM1):c.81+5C>T
|
rs886058119
|
0.00001
|
NM_024996.7(GFM1):c.824C>T (p.Ser275Leu)
|
rs759365696
|
0.00001
|
NM_024996.7(GFM1):c.830C>T (p.Ser277Phe)
|
rs767528432
|
0.00001
|
NM_024996.7(GFM1):c.840+12C>T
|
rs185807995
|
0.00001
|
NM_024996.7(GFM1):c.843A>G (p.Leu281=)
|
rs759440642
|
0.00001
|
NM_024996.7(GFM1):c.861T>C (p.Thr287=)
|
rs760637542
|
0.00001
|
NM_024996.7(GFM1):c.873A>G (p.Ser291=)
|
rs1446412201
|
0.00001
|
NM_024996.7(GFM1):c.897C>T (p.Ser299=)
|
rs763546447
|
0.00001
|
NM_024996.7(GFM1):c.89_99del (p.Trp30fs)
|
rs763423294
|
0.00001
|
NM_024996.7(GFM1):c.900C>T (p.Ala300=)
|
rs1288722173
|
0.00001
|
NM_024996.7(GFM1):c.906G>A (p.Lys302=)
|
rs761343297
|
0.00001
|
NM_024996.7(GFM1):c.90G>T (p.Trp30Cys)
|
rs764364981
|
0.00001
|
NM_024996.7(GFM1):c.910A>G (p.Lys304Glu)
|
rs760266828
|
0.00001
|
NM_024996.7(GFM1):c.928T>C (p.Leu310=)
|
rs1188969241
|
0.00001
|
NM_024996.7(GFM1):c.958C>G (p.Pro320Ala)
|
rs781397040
|
0.00001
|
NM_024996.7(GFM1):c.961T>C (p.Ser321Pro)
|
rs959808171
|
0.00001
|
NM_024996.7(GFM1):c.987C>A (p.Leu329=)
|
rs531887279
|
0.00001
|
NM_024996.7(GFM1):c.988A>G (p.Asn330Asp)
|
rs550421059
|
0.00001
|
NM_024996.7(GFM1):c.998+2T>G
|
rs775287626
|
0.00001
|
NC_000003.11:g.(?_158362424)_(158370055_?)del
|
|
|
NC_000003.11:g.(?_158362424)_(158384195_?)del
|
|
|
NC_000003.11:g.(?_158380407)_(158384185_?)del
|
|
|
NC_000003.11:g.(?_158399764)_(158409256_?)dup
|
|
|
NC_000003.11:g.(?_158399774)_(158402467_?)del
|
|
|
NC_000003.11:g.(?_158407942)_(158409266_?)del
|
|
|
NC_000003.12:g.(?_158681985)_(158691477_?)del
|
|
|
NC_000003.12:g.158684526del
|
rs2108102433
|
|
NM_024996.7(GFM1):c.*245A>C
|
rs886058123
|
|
NM_024996.7(GFM1):c.*454_*456del
|
rs367730845
|
|
NM_024996.7(GFM1):c.*572A>G
|
rs1726365121
|
|
NM_024996.7(GFM1):c.*635A>T
|
rs1398384267
|
|
NM_024996.7(GFM1):c.*803T>C
|
rs1726381360
|
|
NM_024996.7(GFM1):c.-25C>T
|
rs1057520288
|
|
NM_024996.7(GFM1):c.-66C>G
|
rs564879457
|
|
NM_024996.7(GFM1):c.-73C>T
|
rs116614958
|
|
NM_024996.7(GFM1):c.-85C>T
|
rs893145449
|
|
NM_024996.7(GFM1):c.1005A>G (p.Ser335=)
|
rs1178047853
|
|
NM_024996.7(GFM1):c.1015dup (p.Thr339fs)
|
rs2108023364
|
|
NM_024996.7(GFM1):c.1017C>T (p.Thr339=)
|
rs2473971670
|
|
NM_024996.7(GFM1):c.1026_1027insCC (p.Met343fs)
|
rs2473971757
|
|
NM_024996.7(GFM1):c.102A>C (p.Arg34=)
|
rs751421756
|
|
NM_024996.7(GFM1):c.102A>G (p.Arg34=)
|
rs751421756
|
|
NM_024996.7(GFM1):c.1037G>A (p.Ser346Asn)
|
rs2473971809
|
|
NM_024996.7(GFM1):c.1043A>T (p.Asp348Val)
|
rs1040378688
|
|
NM_024996.7(GFM1):c.1044_1056del (p.Asn349fs)
|
rs2473971829
|
|
NM_024996.7(GFM1):c.1065C>T (p.Gly355=)
|
rs1722593482
|
|
NM_024996.7(GFM1):c.1078C>T (p.Leu360=)
|
rs377068967
|
|
NM_024996.7(GFM1):c.1080G>A (p.Leu360=)
|
rs1722595341
|
|
NM_024996.7(GFM1):c.1083+10T>A
|
rs2473972050
|
|
NM_024996.7(GFM1):c.1083+14T>C
|
rs2473972075
|
|
NM_024996.7(GFM1):c.1083+1G>C
|
rs768006278
|
|
NM_024996.7(GFM1):c.1083+3A>G
|
rs187690169
|
|
NM_024996.7(GFM1):c.1083+7T>G
|
rs2108023582
|
|
NM_024996.7(GFM1):c.1083+8G>A
|
rs753905803
|
|
NM_024996.7(GFM1):c.1083+8G>C
|
rs753905803
|
|
NM_024996.7(GFM1):c.1084-13T>C
|
rs1227414946
|
|
NM_024996.7(GFM1):c.1084-19dup
|
rs2473985344
|
|
NM_024996.7(GFM1):c.1084-299A>T
|
rs115123609
|
|
NM_024996.7(GFM1):c.1084-2A>G
|
|
|
NM_024996.7(GFM1):c.1084-7C>T
|
rs1722973856
|
|
NM_024996.7(GFM1):c.1084-8A>G
|
rs1560132979
|
|
NM_024996.7(GFM1):c.1101A>G (p.Gln367=)
|
rs1722976118
|
|
NM_024996.7(GFM1):c.1126G>T (p.Gly376Ter)
|
rs2473985654
|
|
NM_024996.7(GFM1):c.1134A>G (p.Leu378=)
|
rs2473985694
|
|
NM_024996.7(GFM1):c.1138A>G (p.Lys380Glu)
|
|
|
NM_024996.7(GFM1):c.113_116dup (p.Val40fs)
|
rs2473935158
|
|
NM_024996.7(GFM1):c.1140G>A (p.Lys380=)
|
rs777626760
|
|
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del)
|
rs1576745248
|
|
NM_024996.7(GFM1):c.114_115del (p.Val40fs)
|
rs766878293
|
|
NM_024996.7(GFM1):c.1157dup (p.Asn386fs)
|
rs2473985812
|
|
NM_024996.7(GFM1):c.1161A>G (p.Thr387=)
|
rs2108035387
|
|
NM_024996.7(GFM1):c.1167_1168insTT (p.Arg390fs)
|
rs2108035416
|
|
NM_024996.7(GFM1):c.1168A>C (p.Arg390=)
|
rs2108035424
|
|
NM_024996.7(GFM1):c.1172del (p.Lys391fs)
|
rs1263604546
|
|
NM_024996.7(GFM1):c.1179A>T (p.Val393=)
|
rs1429040396
|
|
NM_024996.7(GFM1):c.1182G>A (p.Arg394=)
|
rs151007952
|
|
NM_024996.7(GFM1):c.1183T>C (p.Leu395=)
|
rs2473985980
|
|
NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter)
|
rs1332636394
|
|
NM_024996.7(GFM1):c.1188A>G (p.Gln396=)
|
rs1436997611
|
|
NM_024996.7(GFM1):c.1193T>C (p.Leu398Pro)
|
rs2473986037
|
|
NM_024996.7(GFM1):c.1199G>A (p.Arg400His)
|
rs139692119
|
|
NM_024996.7(GFM1):c.1199G>C (p.Arg400Pro)
|
rs139692119
|
|
NM_024996.7(GFM1):c.1209C>A (p.Ala403=)
|
rs149949638
|
|
NM_024996.7(GFM1):c.1217del (p.Met406fs)
|
rs2108035662
|
|
NM_024996.7(GFM1):c.1221+15A>C
|
|
|
NM_024996.7(GFM1):c.1221+16T>C
|
rs1722992036
|
|
NM_024996.7(GFM1):c.1221+1G>A
|
rs2473986237
|
|
NM_024996.7(GFM1):c.1221+323T>C
|
rs76266615
|
|
NM_024996.7(GFM1):c.1221+8C>G
|
rs774367563
|
|
NM_024996.7(GFM1):c.1221+8_1221+9del
|
rs2473986257
|
|
NM_024996.7(GFM1):c.1222-10G>A
|
rs2473992392
|
|
NM_024996.7(GFM1):c.1222-10_1222-7del
|
rs1560133760
|
|
NM_024996.7(GFM1):c.1222-14_1222-11del
|
rs1560133754
|
|
NM_024996.7(GFM1):c.1222-3del
|
rs1278614328
|
|
NM_024996.7(GFM1):c.1222-3dup
|
rs1278614328
|
|
NM_024996.7(GFM1):c.1222-6T>C
|
rs2473992436
|
|
NM_024996.7(GFM1):c.1222-7T>G
|
rs1482255733
|
|
NM_024996.7(GFM1):c.1222-8T>G
|
rs2108040143
|
|
NM_024996.7(GFM1):c.1239T>A (p.Tyr413Ter)
|
rs2473992572
|
|
NM_024996.7(GFM1):c.1242C>G (p.Ala414=)
|
rs575709528
|
|
NM_024996.7(GFM1):c.1256C>T (p.Ala419Val)
|
rs1314322801
|
|
NM_024996.7(GFM1):c.1265G>T (p.Gly422Val)
|
|
|
NM_024996.7(GFM1):c.1287C>T (p.Asp429=)
|
rs750290053
|
|
NM_024996.7(GFM1):c.1294A>G (p.Thr432Ala)
|
rs1723155863
|
|
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs)
|
rs866604517
|
|
NM_024996.7(GFM1):c.12G>C (p.Leu4=)
|
rs752904724
|
|
NM_024996.7(GFM1):c.1303dup (p.Ala435fs)
|
rs2473993041
|
|
NM_024996.7(GFM1):c.1305C>A (p.Ala435=)
|
rs141368418
|
|
NM_024996.7(GFM1):c.1308C>T (p.Asn436=)
|
rs1187874654
|
|
NM_024996.7(GFM1):c.1323+9T>C
|
rs2473993281
|
|
NM_024996.7(GFM1):c.1324-15del
|
rs778333897
|
|
NM_024996.7(GFM1):c.1324-18T>C
|
rs1576750606
|
|
NM_024996.7(GFM1):c.1324-20T>C
|
|
|
NM_024996.7(GFM1):c.1324-2A>G
|
|
|
NM_024996.7(GFM1):c.1324-9dup
|
rs745838953
|
|
NM_024996.7(GFM1):c.1324G>C (p.Glu442Gln)
|
rs757691557
|
|
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)
|
rs757691557
|
|
NM_024996.7(GFM1):c.1326G>A (p.Glu442=)
|
rs779417991
|
|
NM_024996.7(GFM1):c.1329A>G (p.Ser443=)
|
rs2108044319
|
|
NM_024996.7(GFM1):c.1335T>C (p.His445=)
|
rs746364261
|
|
NM_024996.7(GFM1):c.1338T>G (p.Val446=)
|
rs2473998379
|
|
NM_024996.7(GFM1):c.1346del (p.Pro449fs)
|
rs2108044392
|
|
NM_024996.7(GFM1):c.1348G>A (p.Val450Ile)
|
rs2473998488
|
|
NM_024996.7(GFM1):c.1350C>G (p.Val450=)
|
rs1359608487
|
|
NM_024996.7(GFM1):c.1362A>G (p.Ala454=)
|
rs1576750798
|
|
NM_024996.7(GFM1):c.136del (p.Ile46fs)
|
rs1721717504
|
|
NM_024996.7(GFM1):c.136dup (p.Ile46fs)
|
rs1721717504
|
|
NM_024996.7(GFM1):c.1374T>A (p.Ser458=)
|
rs2473998651
|
|
NM_024996.7(GFM1):c.1380+1G>A
|
rs1456835520
|
|
NM_024996.7(GFM1):c.1380+1G>C
|
|
|
NM_024996.7(GFM1):c.1380+1G>T
|
rs1456835520
|
|
NM_024996.7(GFM1):c.1380+2T>G
|
rs760290078
|
|
NM_024996.7(GFM1):c.1380+7G>C
|
rs2473998743
|
|
NM_024996.7(GFM1):c.1381-13T>C
|
rs1576755045
|
|
NM_024996.7(GFM1):c.1381-17T>C
|
rs2474006579
|
|
NM_024996.7(GFM1):c.1381-17TTC[2]
|
rs758285408
|
|
NM_024996.7(GFM1):c.1381-1G>C
|
rs1263302192
|
|
NM_024996.7(GFM1):c.1384G>A (p.Asp462Asn)
|
rs200244667
|
|
NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr)
|
rs200244667
|
|
NM_024996.7(GFM1):c.1385A>G (p.Asp462Gly)
|
rs886058121
|
|
NM_024996.7(GFM1):c.1393A>T (p.Lys465Ter)
|
rs1317528532
|
|
NM_024996.7(GFM1):c.1396T>C (p.Phe466Leu)
|
rs761392626
|
|
NM_024996.7(GFM1):c.1399dup (p.Ser467fs)
|
rs1485460114
|
|
NM_024996.7(GFM1):c.139C>A (p.Arg47=)
|
|
|
NM_024996.7(GFM1):c.1403A>G (p.Lys468Arg)
|
rs1315582099
|
|
NM_024996.7(GFM1):c.1404del (p.Gly469fs)
|
rs779877297
|
|
NM_024996.7(GFM1):c.1406G>A (p.Gly469Asp)
|
rs750855220
|
|
NM_024996.7(GFM1):c.1406del (p.Gly469fs)
|
rs2474006870
|
|
NM_024996.7(GFM1):c.1415G>A (p.Arg472Lys)
|
rs796260169
|
|
NM_024996.7(GFM1):c.1416G>A (p.Arg472=)
|
rs2474006963
|
|
NM_024996.7(GFM1):c.141A>C (p.Arg47=)
|
rs1721718799
|
|
NM_024996.7(GFM1):c.1421C>T (p.Thr474Ile)
|
|
|
NM_024996.7(GFM1):c.1422A>G (p.Thr474=)
|
rs1396354431
|
|
NM_024996.7(GFM1):c.1424del (p.Arg475fs)
|
rs1723572750
|
|
NM_024996.7(GFM1):c.1452dup (p.Asp485Ter)
|
rs2474007179
|
|
NM_024996.7(GFM1):c.1461G>C (p.Glu487Asp)
|
rs2474007257
|
|
NM_024996.7(GFM1):c.1466_1467del (p.Lys489fs)
|
rs746778765
|
|
NM_024996.7(GFM1):c.1470G>A (p.Glu490=)
|
rs1723577932
|
|
NM_024996.7(GFM1):c.1470_1471del (p.Glu490fs)
|
rs1437329709
|
|
NM_024996.7(GFM1):c.1474_1480del (p.Val492fs)
|
rs2474007358
|
|
NM_024996.7(GFM1):c.1479A>T (p.Ile493=)
|
rs1386671544
|
|
NM_024996.7(GFM1):c.1484G>C (p.Gly495Ala)
|
rs2474007412
|
|
NM_024996.7(GFM1):c.1487T>G (p.Met496Arg)
|
rs119470020
|
|
NM_024996.7(GFM1):c.1503G>T (p.Leu501=)
|
rs1418751403
|
|
NM_024996.7(GFM1):c.1510del (p.Tyr504fs)
|
rs1560135485
|
|
NM_024996.7(GFM1):c.1511A>G (p.Tyr504Cys)
|
|
|
NM_024996.7(GFM1):c.1512T>C (p.Tyr504=)
|
rs766859254
|
|
NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter)
|
rs2108051038
|
|
NM_024996.7(GFM1):c.1518+16_1518+19del
|
rs1244229304
|
|
NM_024996.7(GFM1):c.1518+7A>G
|
rs2108051051
|
|
NM_024996.7(GFM1):c.1518+8del
|
rs773470722
|
|
NM_024996.7(GFM1):c.1519-10C>G
|
|
|
NM_024996.7(GFM1):c.1519-10C>T
|
rs1245328528
|
|
NM_024996.7(GFM1):c.1519-15C>T
|
rs2474011084
|
|
NM_024996.7(GFM1):c.1519-16del
|
rs2474011070
|
|
NM_024996.7(GFM1):c.1519-1G>C
|
rs2474011193
|
|
NM_024996.7(GFM1):c.1519-211T>C
|
rs2115940
|
|
NM_024996.7(GFM1):c.1519-211T>G
|
rs2115940
|
|
NM_024996.7(GFM1):c.1519-25A>G
|
rs7628497
|
|
NM_024996.7(GFM1):c.1519-6T>C
|
rs970704445
|
|
NM_024996.7(GFM1):c.1524G>A (p.Leu508=)
|
rs771376899
|
|
NM_024996.7(GFM1):c.1525G>T (p.Glu509Ter)
|
rs2474011247
|
|
NM_024996.7(GFM1):c.1527_1530del (p.Arg510fs)
|
|
|
NM_024996.7(GFM1):c.152T>G (p.Ile51Ser)
|
rs2473935329
|
|
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs)
|
rs768112611
|
|
NM_024996.7(GFM1):c.1535A>T (p.Tyr512Phe)
|
rs2474011324
|
|
NM_024996.7(GFM1):c.1536T>A (p.Tyr512Ter)
|
rs2108053298
|
|
NM_024996.7(GFM1):c.1536T>C (p.Tyr512=)
|
rs2108053298
|
|
NM_024996.7(GFM1):c.153C>T (p.Ile51=)
|
rs1382717856
|
|
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)
|
rs1576757241
|
|
NM_024996.7(GFM1):c.1548T>A (p.Cys516Ter)
|
rs2474011501
|
|
NM_024996.7(GFM1):c.154_155del (p.Ala53fs)
|
rs2473935333
|
|
NM_024996.7(GFM1):c.1550T>C (p.Ile517Thr)
|
|
|
NM_024996.7(GFM1):c.1554A>G (p.Thr518=)
|
rs781340141
|
|
NM_024996.7(GFM1):c.155C>T (p.Ser52Leu)
|
|
|
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val)
|
rs143031224
|
|
NM_024996.7(GFM1):c.1583C>T (p.Thr528Ile)
|
rs863224035
|
|
NM_024996.7(GFM1):c.1584C>G (p.Thr528=)
|
rs2108053440
|
|
NM_024996.7(GFM1):c.1589del (p.Thr530fs)
|
rs2474011745
|
|
NM_024996.7(GFM1):c.1595_1596del (p.Pro532fs)
|
rs2108053490
|
|
NM_024996.7(GFM1):c.1601+13C>A
|
rs199671232
|
|
NM_024996.7(GFM1):c.1601+16A>C
|
rs2474011942
|
|
NM_024996.7(GFM1):c.1601+17A>C
|
rs2474011954
|
|
NM_024996.7(GFM1):c.1601+1G>A
|
rs748116978
|
|
NM_024996.7(GFM1):c.1601+7A>G
|
rs2474011892
|
|
NM_024996.7(GFM1):c.1602-17dup
|
rs11436468
|
|
NM_024996.7(GFM1):c.1602-18T>C
|
rs2473036147
|
|
NM_024996.7(GFM1):c.1602-19_1602-18insC
|
rs2473036134
|
|
NM_024996.7(GFM1):c.1602-2del
|
rs2473036325
|
|
NM_024996.7(GFM1):c.1602-7C>T
|
rs2473036275
|
|
NM_024996.7(GFM1):c.1602-8_1602-7del
|
rs779269437
|
|
NM_024996.7(GFM1):c.1623_1624insG (p.Gln542fs)
|
rs1725424733
|
|
NM_024996.7(GFM1):c.1629A>T (p.Ser543=)
|
rs759340052
|
|
NM_024996.7(GFM1):c.1632dup (p.Gly545fs)
|
rs2473036507
|
|
NM_024996.7(GFM1):c.1634del (p.Gly545fs)
|
rs2473036525
|
|
NM_024996.7(GFM1):c.1642C>T (p.Gln548Ter)
|
rs1214047183
|
|
NM_024996.7(GFM1):c.1656A>G (p.Val552=)
|
rs767454202
|
|
NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter)
|
rs752037355
|
|
NM_024996.7(GFM1):c.1677G>A (p.Leu559=)
|
rs1725430218
|
|
NM_024996.7(GFM1):c.1684G>C (p.Glu562Gln)
|
rs2473036788
|
|
NM_024996.7(GFM1):c.16G>C (p.Ala6Pro)
|
rs863224031
|
|
NM_024996.7(GFM1):c.1719A>G (p.Thr573=)
|
rs758711881
|
|
NM_024996.7(GFM1):c.171T>A (p.Ser57=)
|
rs1047319252
|
|
NM_024996.7(GFM1):c.1722C>T (p.Phe574=)
|
rs751810377
|
|
NM_024996.7(GFM1):c.1731T>C (p.Asn577=)
|
rs2473037139
|
|
NM_024996.7(GFM1):c.1740G>A (p.Lys580=)
|
rs1725441236
|
|
NM_024996.7(GFM1):c.1758A>G (p.Val586=)
|
rs1725442256
|
|
NM_024996.7(GFM1):c.1764+16del
|
rs1560143730
|
|
NM_024996.7(GFM1):c.1764+17G>A
|
rs1044767440
|
|
NM_024996.7(GFM1):c.1764+17del
|
rs2473037431
|
|
NM_024996.7(GFM1):c.1764+18T>C
|
rs2473037436
|
|
NM_024996.7(GFM1):c.1764+1G>T
|
rs2473037328
|
|
NM_024996.7(GFM1):c.1764+2T>C
|
rs1725442904
|
|
NM_024996.7(GFM1):c.1765-11T>C
|
rs1725668640
|
|
NM_024996.7(GFM1):c.1765-20T>C
|
rs777768940
|
|
NM_024996.7(GFM1):c.1765-2A>G
|
rs2108102423
|
|
NM_024996.7(GFM1):c.1765-3C>T
|
rs2108102413
|
|
NM_024996.7(GFM1):c.1765-7T>C
|
rs771346402
|
|
NM_024996.7(GFM1):c.1781G>A (p.Cys594Tyr)
|
rs1576790457
|
|
NM_024996.7(GFM1):c.1791C>T (p.Gly597=)
|
rs2473045326
|
|
NM_024996.7(GFM1):c.1792C>T (p.Pro598Ser)
|
rs2108102486
|
|
NM_024996.7(GFM1):c.1799C>G (p.Ser600Cys)
|
|
|
NM_024996.7(GFM1):c.1799del (p.Ser600fs)
|
rs2473045397
|
|
NM_024996.7(GFM1):c.1800T>C (p.Ser600=)
|
rs1252819942
|
|
NM_024996.7(GFM1):c.1812C>G (p.Leu604=)
|
rs2566342
|
|
NM_024996.7(GFM1):c.1814C>G (p.Ser605Cys)
|
rs764772830
|
|
NM_024996.7(GFM1):c.1814C>T (p.Ser605Phe)
|
rs764772830
|
|
NM_024996.7(GFM1):c.1815T>C (p.Ser605=)
|
rs2473045581
|
|
NM_024996.7(GFM1):c.1818G>A (p.Gly606=)
|
rs1425045891
|
|
NM_024996.7(GFM1):c.1821C>A (p.Leu607=)
|
rs2473045612
|
|
NM_024996.7(GFM1):c.1831dup (p.Leu611fs)
|
rs1281034886
|
|
NM_024996.7(GFM1):c.1834C>T (p.Gln612Ter)
|
rs2108102670
|
|
NM_024996.7(GFM1):c.1848C>A (p.His616Gln)
|
|
|
NM_024996.7(GFM1):c.1857T>A (p.Val619=)
|
rs1322737257
|
|
NM_024996.7(GFM1):c.186A>G (p.Leu62=)
|
rs2108000250
|
|
NM_024996.7(GFM1):c.1872C>A (p.Ile624=)
|
rs1725679318
|
|
NM_024996.7(GFM1):c.1874_1875del (p.Ser625fs)
|
rs1725679096
|
|
NM_024996.7(GFM1):c.1883G>A (p.Arg628Gln)
|
|
|
NM_024996.7(GFM1):c.1890A>G (p.Gly630=)
|
rs756623491
|
|
NM_024996.7(GFM1):c.1897G>C (p.Ala633Pro)
|
rs2473046091
|
|
NM_024996.7(GFM1):c.18T>G (p.Ala6=)
|
rs1864507
|
|
NM_024996.7(GFM1):c.1905_1908del (p.Gln636fs)
|
rs2473046112
|
|
NM_024996.7(GFM1):c.1909+10G>A
|
rs2108102937
|
|
NM_024996.7(GFM1):c.1909+131C>T
|
rs114879672
|
|
NM_024996.7(GFM1):c.1909+13C>G
|
rs141146379
|
|
NM_024996.7(GFM1):c.1909+13C>T
|
rs141146379
|
|
NM_024996.7(GFM1):c.1909+16del
|
rs1560144712
|
|
NM_024996.7(GFM1):c.1909+18A>G
|
rs2473046245
|
|
NM_024996.7(GFM1):c.1909+20C>T
|
rs2473046252
|
|
NM_024996.7(GFM1):c.1909+2T>A
|
rs1725682836
|
|
NM_024996.7(GFM1):c.1909+7T>A
|
rs1000408681
|
|
NM_024996.7(GFM1):c.1909+8G>A
|
rs2473046175
|
|
NM_024996.7(GFM1):c.1909+9G>C
|
rs1725683439
|
|
NM_024996.7(GFM1):c.1910-13T>A
|
rs2108116917
|
|
NM_024996.7(GFM1):c.1910-22_1910-20del
|
rs769023382
|
|
NM_024996.7(GFM1):c.1910-4C>T
|
rs2108116975
|
|
NM_024996.7(GFM1):c.1910-6A>C
|
rs1159532377
|
|
NM_024996.7(GFM1):c.1910-6del
|
rs1378810330
|
|
NM_024996.7(GFM1):c.1910-6dup
|
rs1378810330
|
|
NM_024996.7(GFM1):c.1910-8del
|
rs34920045
|
|
NM_024996.7(GFM1):c.1910-9T>G
|
rs2473063740
|
|
NM_024996.7(GFM1):c.1910-9_1910-8del
|
rs34920045
|
|
NM_024996.7(GFM1):c.1911C>T (p.Ala637=)
|
rs2473063859
|
|
NM_024996.7(GFM1):c.1914G>T (p.Leu638Phe)
|
rs1295348437
|
|
NM_024996.7(GFM1):c.1917A>C (p.Ala639=)
|
rs2108117019
|
|
NM_024996.7(GFM1):c.1926A>G (p.Thr642=)
|
rs757375403
|
|
NM_024996.7(GFM1):c.1929A>G (p.Leu643=)
|
rs2473063968
|
|
NM_024996.7(GFM1):c.192A>G (p.Glu64=)
|
rs1576720639
|
|
NM_024996.7(GFM1):c.1935T>A (p.Ile645=)
|
rs2108117060
|
|
NM_024996.7(GFM1):c.1936C>T (p.Leu646Phe)
|
rs2108117070
|
|
NM_024996.7(GFM1):c.193C>A (p.Arg65=)
|
rs62286651
|
|
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter)
|
rs62286651
|
|
NM_024996.7(GFM1):c.1951del (p.Ala651fs)
|
rs2473064132
|
|
NM_024996.7(GFM1):c.1967C>T (p.Ala656Val)
|
|
|
NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter)
|
rs2473064367
|
|
NM_024996.7(GFM1):c.1989A>G (p.Gln663=)
|
|
|
NM_024996.7(GFM1):c.1998A>T (p.Ala666=)
|
rs765400655
|
|
NM_024996.7(GFM1):c.2015A>G (p.His672Arg)
|
|
|
NM_024996.7(GFM1):c.2019G>T (p.Gly673=)
|
rs777596680
|
|
NM_024996.7(GFM1):c.2022A>T (p.Val674=)
|
rs2473064638
|
|
NM_024996.7(GFM1):c.2025C>T (p.Ile675=)
|
rs1726205507
|
|
NM_024996.7(GFM1):c.2031G>A (p.Gly677=)
|
rs2473064683
|
|
NM_024996.7(GFM1):c.2034A>G (p.Gln678=)
|
rs770923614
|
|
NM_024996.7(GFM1):c.2040A>G (p.Gly680=)
|
rs1206780806
|
|
NM_024996.7(GFM1):c.2041G>C (p.Val681Leu)
|
rs745312855
|
|
NM_024996.7(GFM1):c.204C>T (p.Tyr68=)
|
rs763552707
|
|
NM_024996.7(GFM1):c.2058A>G (p.Thr686=)
|
rs2108117513
|
|
NM_024996.7(GFM1):c.2068del (p.Asp690fs)
|
|
|
NM_024996.7(GFM1):c.2070+10C>G
|
rs2473064908
|
|
NM_024996.7(GFM1):c.2070+17A>G
|
|
|
NM_024996.7(GFM1):c.2070+1G>A
|
rs200697129
|
|
NM_024996.7(GFM1):c.2070+1G>T
|
|
|
NM_024996.7(GFM1):c.2071-10T>C
|
rs1331066860
|
|
NM_024996.7(GFM1):c.2071-12G>A
|
rs1726277991
|
|
NM_024996.7(GFM1):c.2071-14_2071-13del
|
rs773688582
|
|
NM_024996.7(GFM1):c.2071-16_2071-14del
|
rs765907474
|
|
NM_024996.7(GFM1):c.2071-1G>C
|
rs2473068029
|
|
NM_024996.7(GFM1):c.2071-8G>C
|
rs2108119491
|
|
NM_024996.7(GFM1):c.2073C>T (p.Val691=)
|
rs757061059
|
|
NM_024996.7(GFM1):c.2077C>T (p.Leu693=)
|
rs2473068073
|
|
NM_024996.7(GFM1):c.207C>T (p.Tyr69=)
|
rs2473935639
|
|
NM_024996.7(GFM1):c.2082T>C (p.Asn694=)
|
rs2473068103
|
|
NM_024996.7(GFM1):c.2103T>C (p.Thr701=)
|
rs1024026179
|
|
NM_024996.7(GFM1):c.2112G>A (p.Arg704=)
|
rs1299536219
|
|
NM_024996.7(GFM1):c.2118C>A (p.Cys706Ter)
|
|
|
NM_024996.7(GFM1):c.2124+20C>A
|
rs1281403471
|
|
NM_024996.7(GFM1):c.2124+20C>G
|
rs1281403471
|
|
NM_024996.7(GFM1):c.2125-11del
|
rs747030381
|
|
NM_024996.7(GFM1):c.2125-11dup
|
rs747030381
|
|
NM_024996.7(GFM1):c.2125-1G>A
|
rs1437640913
|
|
NM_024996.7(GFM1):c.2125-26dup
|
rs145803239
|
|
NM_024996.7(GFM1):c.2125-28_2125-17del
|
rs2473069162
|
|
NM_024996.7(GFM1):c.2125-32_2125-30del
|
rs552631941
|
|
NM_024996.7(GFM1):c.2125-4C>A
|
rs1420371820
|
|
NM_024996.7(GFM1):c.2125-5C>T
|
rs377073589
|
|
NM_024996.7(GFM1):c.2125-7T>C
|
|
|
NM_024996.7(GFM1):c.2125-9A>C
|
rs2473069294
|
|
NM_024996.7(GFM1):c.213C>T (p.Gly71=)
|
rs1432873053
|
|
NM_024996.7(GFM1):c.2142A>C (p.Thr714=)
|
rs774734437
|
|
NM_024996.7(GFM1):c.2155A>G (p.Arg719Gly)
|
rs2473069564
|
|
NM_024996.7(GFM1):c.2160T>C (p.Tyr720=)
|
rs2108120214
|
|
NM_024996.7(GFM1):c.2166A>G (p.Pro722=)
|
rs2108120242
|
|
NM_024996.7(GFM1):c.2172A>G (p.Leu724=)
|
rs762665539
|
|
NM_024996.7(GFM1):c.2172A>T (p.Leu724Phe)
|
|
|
NM_024996.7(GFM1):c.2178C>T (p.Ser726=)
|
rs2108120278
|
|
NM_024996.7(GFM1):c.2184A>G (p.Gln728=)
|
rs1358628185
|
|
NM_024996.7(GFM1):c.2205T>C (p.Tyr735=)
|
rs1726310335
|
|
NM_024996.7(GFM1):c.2215A>G (p.Thr739Ala)
|
rs201634749
|
|
NM_024996.7(GFM1):c.221C>G (p.Ala74Gly)
|
rs778603797
|
|
NM_024996.7(GFM1):c.221C>T (p.Ala74Val)
|
|
|
NM_024996.7(GFM1):c.2226T>C (p.Leu742=)
|
rs1427312809
|
|
NM_024996.7(GFM1):c.2232T>C (p.Val744=)
|
rs1369807009
|
|
NM_024996.7(GFM1):c.2232del (p.Gly747fs)
|
rs863224034
|
|
NM_024996.7(GFM1):c.2236A>G (p.Lys746Glu)
|
rs2473070136
|
|
NM_024996.7(GFM1):c.2238A>G (p.Lys746=)
|
rs962534727
|
|
NM_024996.7(GFM1):c.2241A>G (p.Gly747=)
|
rs2473070168
|
|
NM_024996.7(GFM1):c.2247C>T (p.Ala749=)
|
rs2473070202
|
|
NM_024996.7(GFM1):c.234+13G>A
|
rs1721731618
|
|
NM_024996.7(GFM1):c.234+1G>T
|
rs747437028
|
|
NM_024996.7(GFM1):c.234+2TA[5]
|
rs1560127256
|
|
NM_024996.7(GFM1):c.234+7dup
|
rs1283111960
|
|
NM_024996.7(GFM1):c.235-16C>T
|
|
|
NM_024996.7(GFM1):c.235-1G>A
|
rs2473937795
|
|
NM_024996.7(GFM1):c.235-9dup
|
rs2473937758
|
|
NM_024996.7(GFM1):c.238A>G (p.Lys80Glu)
|
rs863224029
|
|
NM_024996.7(GFM1):c.247_248del (p.Asp83fs)
|
rs1721780124
|
|
NM_024996.7(GFM1):c.248A>T (p.Asp83Val)
|
rs1576721522
|
|
NM_024996.7(GFM1):c.249T>C (p.Asp83=)
|
rs2473937870
|
|
NM_024996.7(GFM1):c.265A>G (p.Met89Val)
|
rs2108001523
|
|
NM_024996.7(GFM1):c.273del (p.Met92fs)
|
rs863224033
|
|
NM_024996.7(GFM1):c.27C>T (p.Val9=)
|
rs780207360
|
|
NM_024996.7(GFM1):c.287_288del (p.Arg96fs)
|
rs2473938090
|
|
NM_024996.7(GFM1):c.291A>G (p.Gln97=)
|
rs1299957534
|
|
NM_024996.7(GFM1):c.291_292del (p.Gly99fs)
|
rs752400894
|
|
NM_024996.7(GFM1):c.295G>T (p.Gly99Ter)
|
rs2473938187
|
|
NM_024996.7(GFM1):c.303dup (p.Ile102fs)
|
rs2473938268
|
|
NM_024996.7(GFM1):c.307C>T (p.Gln103Ter)
|
rs756718556
|
|
NM_024996.7(GFM1):c.30G>A (p.Ala10=)
|
rs2473929700
|
|
NM_024996.7(GFM1):c.318C>T (p.Ala106=)
|
rs369439447
|
|
NM_024996.7(GFM1):c.319A>G (p.Thr107Ala)
|
rs1407506470
|
|
NM_024996.7(GFM1):c.323dup (p.Tyr108Ter)
|
rs1721792587
|
|
NM_024996.7(GFM1):c.324C>A (p.Tyr108Ter)
|
rs1391874523
|
|
NM_024996.7(GFM1):c.324C>G (p.Tyr108Ter)
|
rs1391874523
|
|
NM_024996.7(GFM1):c.324C>T (p.Tyr108=)
|
rs1391874523
|
|
NM_024996.7(GFM1):c.332G>A (p.Trp111Ter)
|
rs771055207
|
|
NM_024996.7(GFM1):c.335A>G (p.Lys112Arg)
|
rs2108001745
|
|
NM_024996.7(GFM1):c.361dup (p.Thr121fs)
|
rs2473938700
|
|
NM_024996.7(GFM1):c.362_367delinsTT (p.Thr121fs)
|
rs2473938735
|
|
NM_024996.7(GFM1):c.363T>A (p.Thr121=)
|
rs2108001850
|
|
NM_024996.7(GFM1):c.363T>C (p.Thr121=)
|
rs2108001850
|
|
NM_024996.7(GFM1):c.367+15T>C
|
rs373371132
|
|
NM_024996.7(GFM1):c.367+1G>A
|
rs2473938802
|
|
NM_024996.7(GFM1):c.367+20T>G
|
rs2473938915
|
|
NM_024996.7(GFM1):c.368-11_368-9del
|
rs2473940788
|
|
NM_024996.7(GFM1):c.368-13_368-12delinsAA
|
rs2108003136
|
|
NM_024996.7(GFM1):c.368-14T>C
|
rs1278260482
|
|
NM_024996.7(GFM1):c.368-14_368-12del
|
rs1480373267
|
|
NM_024996.7(GFM1):c.368-15C>A
|
rs746054486
|
|
NM_024996.7(GFM1):c.368-1G>C
|
rs2473940833
|
|
NM_024996.7(GFM1):c.368-2A>C
|
rs1416173655
|
|
NM_024996.7(GFM1):c.368-4T>G
|
rs1721838121
|
|
NM_024996.7(GFM1):c.368-5T>C
|
rs1445009928
|
|
NM_024996.7(GFM1):c.36G>C (p.Leu12=)
|
rs2107996841
|
|
NM_024996.7(GFM1):c.379T>C (p.Phe127Leu)
|
rs2473940881
|
|
NM_024996.7(GFM1):c.381del (p.Phe127fs)
|
rs2473940889
|
|
NM_024996.7(GFM1):c.384A>G (p.Thr128=)
|
rs2473940894
|
|
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala)
|
rs1553847587
|
|
NM_024996.7(GFM1):c.39G>A (p.Gly13=)
|
rs2107996854
|
|
NM_024996.7(GFM1):c.3G>A (p.Met1Ile)
|
rs863224030
|
|
NM_024996.7(GFM1):c.402C>G (p.Ala134=)
|
rs2473940962
|
|
NM_024996.7(GFM1):c.402C>T (p.Ala134=)
|
rs2473940962
|
|
NM_024996.7(GFM1):c.406A>C (p.Arg136=)
|
rs759213430
|
|
NM_024996.7(GFM1):c.408A>T (p.Arg136Ser)
|
rs1721844379
|
|
NM_024996.7(GFM1):c.420T>C (p.Gly140=)
|
rs1721845527
|
|
NM_024996.7(GFM1):c.435C>T (p.Leu145=)
|
rs765316378
|
|
NM_024996.7(GFM1):c.459C>T (p.Cys153=)
|
rs2473941170
|
|
NM_024996.7(GFM1):c.471T>G (p.Thr157=)
|
rs777430995
|
|
NM_024996.7(GFM1):c.479G>A (p.Arg160His)
|
|
|
NM_024996.7(GFM1):c.486dup (p.Lys163fs)
|
rs1181841660
|
|
NM_024996.7(GFM1):c.494A>G (p.Tyr165Cys)
|
rs764479679
|
|
NM_024996.7(GFM1):c.49del (p.Ala17fs)
|
|
|
NM_024996.7(GFM1):c.504G>A (p.Pro168=)
|
rs767586099
|
|
NM_024996.7(GFM1):c.521dup (p.Asn174fs)
|
rs1576723006
|
|
NM_024996.7(GFM1):c.527T>A (p.Leu176Ter)
|
rs1314096195
|
|
NM_024996.7(GFM1):c.532C>T (p.Arg178Ter)
|
rs1721865059
|
|
NM_024996.7(GFM1):c.539del (p.Gly180fs)
|
rs1362847020
|
|
NM_024996.7(GFM1):c.53C>T (p.Pro18Leu)
|
rs2473929840
|
|
NM_024996.7(GFM1):c.540C>T (p.Gly180=)
|
rs2108003859
|
|
NM_024996.7(GFM1):c.548del (p.Pro183fs)
|
rs2473941549
|
|
NM_024996.7(GFM1):c.54C>A (p.Pro18=)
|
rs776007974
|
|
NM_024996.7(GFM1):c.54del (p.Ala19fs)
|
rs765266988
|
|
NM_024996.7(GFM1):c.552C>G (p.Ala184=)
|
rs1364753577
|
|
NM_024996.7(GFM1):c.552C>T (p.Ala184=)
|
rs1364753577
|
|
NM_024996.7(GFM1):c.558C>T (p.Ala186=)
|
rs2473941612
|
|
NM_024996.7(GFM1):c.56C>T (p.Ala19Val)
|
rs567086019
|
|
NM_024996.7(GFM1):c.572+17T>G
|
rs771642587
|
|
NM_024996.7(GFM1):c.572+1G>A
|
rs777575435
|
|
NM_024996.7(GFM1):c.572+9C>T
|
rs377342697
|
|
NM_024996.7(GFM1):c.573-13T>C
|
rs2473948660
|
|
NM_024996.7(GFM1):c.573-17G>A
|
rs2473948645
|
|
NM_024996.7(GFM1):c.573-18T>A
|
rs374887662
|
|
NM_024996.7(GFM1):c.573-18T>C
|
rs374887662
|
|
NM_024996.7(GFM1):c.573-1G>C
|
rs2108009356
|
|
NM_024996.7(GFM1):c.573-2A>G
|
rs529233762
|
|
NM_024996.7(GFM1):c.576T>G (p.Ser192=)
|
rs2473948711
|
|
NM_024996.7(GFM1):c.579dup (p.Leu194fs)
|
rs2473948725
|
|
NM_024996.7(GFM1):c.580C>T (p.Leu194=)
|
rs1463527922
|
|
NM_024996.7(GFM1):c.582A>C (p.Leu194=)
|
rs2473948751
|
|
NM_024996.7(GFM1):c.604C>T (p.Gln202Ter)
|
rs2473948919
|
|
NM_024996.7(GFM1):c.60C>T (p.Ser20=)
|
|
|
NM_024996.7(GFM1):c.612C>G (p.Pro204=)
|
rs1722079921
|
|
NM_024996.7(GFM1):c.612C>T (p.Pro204=)
|
rs1722079921
|
|
NM_024996.7(GFM1):c.612del (p.Met205fs)
|
rs2108009467
|
|
NM_024996.7(GFM1):c.614T>C (p.Met205Thr)
|
rs2473948991
|
|
NM_024996.7(GFM1):c.616G>T (p.Gly206Cys)
|
rs1722080493
|
|
NM_024996.7(GFM1):c.61C>T (p.Leu21=)
|
|
|
NM_024996.7(GFM1):c.626G>A (p.Gly209Asp)
|
rs2108009521
|
|
NM_024996.7(GFM1):c.626del (p.Gly209fs)
|
rs2473949063
|
|
NM_024996.7(GFM1):c.631T>C (p.Phe211Leu)
|
rs2473949113
|
|
NM_024996.7(GFM1):c.636del (p.Gly213fs)
|
rs2473949135
|
|
NM_024996.7(GFM1):c.642T>C (p.Ile214=)
|
rs1027940679
|
|
NM_024996.7(GFM1):c.649del (p.Ile218fs)
|
rs2108009622
|
|
NM_024996.7(GFM1):c.657G>A (p.Glu219=)
|
rs768352591
|
|
NM_024996.7(GFM1):c.66C>G (p.Gly22=)
|
rs773603488
|
|
NM_024996.7(GFM1):c.679G>A (p.Gly227Arg)
|
rs2473949647
|
|
NM_024996.7(GFM1):c.67T>A (p.Trp23Arg)
|
rs1055907573
|
|
NM_024996.7(GFM1):c.684C>T (p.Asp228=)
|
rs1722089362
|
|
NM_024996.7(GFM1):c.687T>C (p.Phe229=)
|
rs1722089578
|
|
NM_024996.7(GFM1):c.689+1211A>C
|
rs73028908
|
|
NM_024996.7(GFM1):c.689+14A>C
|
rs2473949791
|
|
NM_024996.7(GFM1):c.689+200A>G
|
rs111270770
|
|
NM_024996.7(GFM1):c.689+2T>C
|
rs2473949734
|
|
NM_024996.7(GFM1):c.689+2del
|
rs748809628
|
|
NM_024996.7(GFM1):c.689+887G>A
|
|
|
NM_024996.7(GFM1):c.689+8C>T
|
rs2473949776
|
|
NM_024996.7(GFM1):c.690-11del
|
rs2473960231
|
|
NM_024996.7(GFM1):c.690-13T>C
|
rs1229342451
|
|
NM_024996.7(GFM1):c.690-14A>G
|
rs2473960211
|
|
NM_024996.7(GFM1):c.690-16A>G
|
rs2108016593
|
|
NM_024996.7(GFM1):c.690-262del
|
rs61079797
|
|
NM_024996.7(GFM1):c.690_693del
|
rs778902849
|
|
NM_024996.7(GFM1):c.696T>C (p.Ile232=)
|
|
|
NM_024996.7(GFM1):c.699T>C (p.Val233=)
|
rs2108016675
|
|
NM_024996.7(GFM1):c.701G>A (p.Arg234Gln)
|
rs1202361363
|
|
NM_024996.7(GFM1):c.702A>C (p.Arg234=)
|
rs377418512
|
|
NM_024996.7(GFM1):c.705T>G (p.Tyr235Ter)
|
rs201360324
|
|
NM_024996.7(GFM1):c.707G>A (p.Gly236Asp)
|
rs1415352138
|
|
NM_024996.7(GFM1):c.715C>T (p.Pro239Ser)
|
rs1722343637
|
|
NM_024996.7(GFM1):c.720T>A (p.Ala240=)
|
rs2108016751
|
|
NM_024996.7(GFM1):c.725T>G (p.Leu242Ter)
|
rs2473960497
|
|
NM_024996.7(GFM1):c.72G>C (p.Gln24His)
|
rs766862933
|
|
NM_024996.7(GFM1):c.732G>A (p.Ala244=)
|
rs1418174737
|
|
NM_024996.7(GFM1):c.735_747delinsTTAATTAATTAG (p.Ala246_His249delinsTer)
|
rs1722345825
|
|
NM_024996.7(GFM1):c.738C>A (p.Ala246=)
|
rs2108016851
|
|
NM_024996.7(GFM1):c.73A>G (p.Arg25Gly)
|
|
|
NM_024996.7(GFM1):c.747C>T (p.His249=)
|
rs754969878
|
|
NM_024996.7(GFM1):c.748del (p.Arg250fs)
|
rs2108016910
|
|
NM_024996.7(GFM1):c.749G>A (p.Arg250Gln)
|
rs752251570
|
|
NM_024996.7(GFM1):c.750G>T (p.Arg250=)
|
rs777468400
|
|
NM_024996.7(GFM1):c.757C>T (p.Leu253=)
|
rs757551544
|
|
NM_024996.7(GFM1):c.769del (p.Val257fs)
|
rs2108017010
|
|
NM_024996.7(GFM1):c.774C>T (p.Ala258=)
|
rs2473960957
|
|
NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)
|
rs2473961042
|
|
NM_024996.7(GFM1):c.789G>A (p.Gln263=)
|
rs2473961053
|
|
NM_024996.7(GFM1):c.792T>C (p.Leu264=)
|
rs2108017065
|
|
NM_024996.7(GFM1):c.796G>T (p.Glu266Ter)
|
rs2473961108
|
|
NM_024996.7(GFM1):c.807G>C (p.Leu269=)
|
rs879807884
|
|
NM_024996.7(GFM1):c.81+10C>T
|
rs1454338906
|
|
NM_024996.7(GFM1):c.81+11A>G
|
rs2473930116
|
|
NM_024996.7(GFM1):c.81+12T>C
|
rs752744978
|
|
NM_024996.7(GFM1):c.81+13A>G
|
rs2473930128
|
|
NM_024996.7(GFM1):c.81+17A>G
|
rs2473930140
|
|
NM_024996.7(GFM1):c.81+19G>T
|
rs764267543
|
|
NM_024996.7(GFM1):c.81+281_81+283del
|
rs11405116
|
|
NM_024996.7(GFM1):c.81+282_81+283del
|
rs11405116
|
|
NM_024996.7(GFM1):c.81+283del
|
rs11405116
|
|
NM_024996.7(GFM1):c.81+283dup
|
rs11405116
|
|
NM_024996.7(GFM1):c.81+3A>G
|
rs1721602573
|
|
NM_024996.7(GFM1):c.81+7G>C
|
rs1378966667
|
|
NM_024996.7(GFM1):c.817A>G (p.Ile273Val)
|
rs1278054865
|
|
NM_024996.7(GFM1):c.817dup (p.Ile273fs)
|
rs1722355988
|
|
NM_024996.7(GFM1):c.82-11A>G
|
rs1576720364
|
|
NM_024996.7(GFM1):c.82-13G>A
|
rs775613083
|
|
NM_024996.7(GFM1):c.82-13G>T
|
rs775613083
|
|
NM_024996.7(GFM1):c.82-14C>G
|
rs1242505927
|
|
NM_024996.7(GFM1):c.82-14C>T
|
rs1242505927
|
|
NM_024996.7(GFM1):c.82-15T>G
|
rs2473934922
|
|
NM_024996.7(GFM1):c.82-16C>G
|
rs2473934916
|
|
NM_024996.7(GFM1):c.82-16C>T
|
rs2473934916
|
|
NM_024996.7(GFM1):c.82-18C>T
|
|
|
NM_024996.7(GFM1):c.82-198G>A
|
rs7618421
|
|
NM_024996.7(GFM1):c.82-2A>C
|
rs1721712075
|
|
NM_024996.7(GFM1):c.82-4del
|
rs1335207851
|
|
NM_024996.7(GFM1):c.82-4dup
|
rs1335207851
|
|
NM_024996.7(GFM1):c.825G>A (p.Ser275=)
|
rs1722357550
|
|
NM_024996.7(GFM1):c.829dup (p.Ser277fs)
|
rs771865940
|
|
NM_024996.7(GFM1):c.831T>C (p.Ser277=)
|
rs1722358843
|
|
NM_024996.7(GFM1):c.837A>G (p.Leu279=)
|
rs1576732352
|
|
NM_024996.7(GFM1):c.840+10T>C
|
rs1453197646
|
|
NM_024996.7(GFM1):c.840+17T>G
|
|
|
NM_024996.7(GFM1):c.840+8C>T
|
rs2473961517
|
|
NM_024996.7(GFM1):c.841-10T>G
|
rs2473965873
|
|
NM_024996.7(GFM1):c.841-168_844delinsCTTTCTTCTT
|
rs2473965026
|
|
NM_024996.7(GFM1):c.841-4G>A
|
rs773985079
|
|
NM_024996.7(GFM1):c.841-520_878del
|
rs2108018519
|
|
NM_024996.7(GFM1):c.841-9C>A
|
rs2473965885
|
|
NM_024996.7(GFM1):c.850C>A (p.Arg284=)
|
rs771890880
|
|
NM_024996.7(GFM1):c.857del (p.Ala286fs)
|
rs2473965987
|
|
NM_024996.7(GFM1):c.87T>C (p.Asn29=)
|
rs2107999927
|
|
NM_024996.7(GFM1):c.881C>T (p.Pro294Leu)
|
rs1722451256
|
|
NM_024996.7(GFM1):c.885A>G (p.Val295=)
|
rs2473966170
|
|
NM_024996.7(GFM1):c.890del (p.Leu297fs)
|
rs775228051
|
|
NM_024996.7(GFM1):c.894A>G (p.Gly298=)
|
rs1026873701
|
|
NM_024996.7(GFM1):c.909del (p.Asn303fs)
|
rs2473966364
|
|
NM_024996.7(GFM1):c.914del (p.Gly305fs)
|
rs1722457560
|
|
NM_024996.7(GFM1):c.928T>G (p.Leu310Val)
|
rs1188969241
|
|
NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)
|
rs2473966537
|
|
NM_024996.7(GFM1):c.929del (p.Leu309_Leu310insTer)
|
|
|
NM_024996.7(GFM1):c.931G>A (p.Asp311Asn)
|
rs1021136228
|
|
NM_024996.7(GFM1):c.933T>C (p.Asp311=)
|
rs2108020088
|
|
NM_024996.7(GFM1):c.945A>G (p.Glu315=)
|
rs755560938
|
|
NM_024996.7(GFM1):c.948C>T (p.Tyr316=)
|
rs1560130647
|
|
NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)
|
rs1722463582
|
|
NM_024996.7(GFM1):c.960A>G (p.Pro320=)
|
rs145970222
|
|
NM_024996.7(GFM1):c.964G>A (p.Glu322Lys)
|
|
|
NM_024996.7(GFM1):c.974del (p.Asn325fs)
|
rs1434843098
|
|
NM_024996.7(GFM1):c.975C>T (p.Asn325=)
|
rs2473966866
|
|
NM_024996.7(GFM1):c.980C>G (p.Ala327Gly)
|
rs2473966902
|
|
NM_024996.7(GFM1):c.981T>A (p.Ala327=)
|
rs2108020246
|
|
NM_024996.7(GFM1):c.990T>C (p.Asn330=)
|
rs2473966982
|
|
NM_024996.7(GFM1):c.996G>A (p.Glu332=)
|
rs1576734691
|
|
NM_024996.7(GFM1):c.998+10G>A
|
rs2473967107
|
|
NM_024996.7(GFM1):c.998+1G>A
|
rs1275818409
|
|
NM_024996.7(GFM1):c.998+20T>C
|
rs1258469118
|
|
NM_024996.7(GFM1):c.998+302dup
|
rs11457459
|
|
NM_024996.7(GFM1):c.998+5G>A
|
|
|
NM_024996.7(GFM1):c.998+7C>T
|
rs1163420614
|
|
NM_024996.7(GFM1):c.998+8T>G
|
rs2108020345
|
|
NM_024996.7(GFM1):c.999-19A>G
|
rs749477867
|
|
NM_024996.7(GFM1):c.999-1G>A
|
rs757524798
|
|
NM_024996.7(GFM1):c.999-1G>C
|
rs757524798
|
|
NM_024996.7(GFM1):c.999-4dup
|
rs1560131140
|
|
NM_024996.7(GFM1):c.999-7T>C
|
rs2473971571
|
|
NM_024996.7(GFM1):c.999-8A>C
|
rs1560131138
|
|
NM_024996.7(GFM1):c.999-9T>A
|
rs2473971557
|
|