NM_001927.4(DES):c.75A>G (p.Pro25=)
|
rs1318299
|
0.89847
|
NM_001927.4(DES):c.93T>C (p.Ser31=)
|
rs2017800
|
0.88201
|
NM_001927.4(DES):c.579-38C>T
|
rs12991025
|
0.50005
|
NM_001927.3(DES):c.*762T>C
|
rs11685408
|
0.49560
|
NM_001927.4(DES):c.1014G>C (p.Leu338=)
|
rs12920
|
0.37027
|
NM_001927.4(DES):c.828C>T (p.Asp276=)
|
rs1058261
|
0.36815
|
NM_001927.4(DES):c.1104G>A (p.Ala368=)
|
rs1058284
|
0.36806
|
NM_001927.4(DES):c.1244+264G>A
|
rs2854895
|
0.35067
|
NM_001927.4(DES):c.578+11G>A
|
rs111548596
|
0.06130
|
NM_001927.4(DES):c.736-35C>A
|
rs41272701
|
0.03434
|
NM_001927.4(DES):c.1289-264C>T
|
rs58898098
|
0.03186
|
NM_001927.4(DES):c.1244+192C>T
|
rs145871254
|
0.02924
|
NM_001927.4(DES):c.669T>C (p.Ile223=)
|
rs75882680
|
0.02876
|
NM_001927.4(DES):c.*468G>T
|
rs73085265
|
0.02797
|
NM_001927.4(DES):c.408C>T (p.Leu136=)
|
rs111828114
|
0.02697
|
NM_001927.4(DES):c.1245-306G>T
|
rs144177848
|
0.02423
|
NM_001927.4(DES):c.1245-201A>G
|
rs149725578
|
0.02303
|
NM_001927.4(DES):c.1245-245T>C
|
rs146094800
|
0.02291
|
NM_001927.4(DES):c.1026C>T (p.Asn342=)
|
rs61731508
|
0.02125
|
NM_001927.4(DES):c.372G>A (p.Glu124=)
|
rs34365369
|
0.01950
|
NM_001927.4(DES):c.1245-214C>G
|
rs148363532
|
0.01424
|
NM_001927.4(DES):c.*662G>A
|
rs116635264
|
0.01332
|
NM_001927.4(DES):c.1289-287G>A
|
rs111253934
|
0.01173
|
NM_001927.4(DES):c.1372-53G>A
|
rs113470975
|
0.01139
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
NM_001927.4(DES):c.1288+79G>A
|
rs73991545
|
0.00987
|
NM_001927.4(DES):c.1375G>A (p.Val459Ile)
|
rs73991549
|
0.00981
|
NM_001927.4(DES):c.735+20C>T
|
rs151226355
|
0.00694
|
NM_001927.4(DES):c.324G>A (p.Glu108=)
|
rs138677215
|
0.00189
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00168
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00093
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00083
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
0.00058
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
NM_001927.4(DES):c.166G>C (p.Val56Leu)
|
rs578066781
|
0.00021
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00021
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_001927.4(DES):c.243C>T (p.Ser81=)
|
rs201594392
|
0.00015
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
NM_001927.4(DES):c.1257C>T (p.Pro419=)
|
rs143154982
|
0.00013
|
NM_001927.4(DES):c.407T>A (p.Leu136His)
|
rs397516695
|
0.00011
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
NM_001927.4(DES):c.642C>T (p.Asp214=)
|
rs370239228
|
0.00009
|
NM_001927.4(DES):c.699C>T (p.Asn233=)
|
rs758066814
|
0.00009
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00007
|
NM_001927.4(DES):c.1024-7C>G
|
rs779098835
|
0.00006
|
NM_001927.4(DES):c.299A>C (p.Glu100Ala)
|
rs762738069
|
0.00006
|
NM_001927.4(DES):c.99C>T (p.Pro33=)
|
rs774006810
|
0.00006
|
NM_001927.4(DES):c.1009G>A (p.Ala337Thr)
|
rs59962885
|
0.00005
|
NM_001927.4(DES):c.1123C>T (p.Arg375Trp)
|
rs375218723
|
0.00005
|
NM_001927.4(DES):c.1371+1G>A
|
rs748323823
|
0.00005
|
NM_001927.4(DES):c.109C>T (p.Arg37Trp)
|
rs537881554
|
0.00004
|
NM_001927.4(DES):c.1158C>T (p.Arg386=)
|
rs774323736
|
0.00004
|
NM_001927.4(DES):c.1243C>T (p.Arg415Trp)
|
rs751942358
|
0.00004
|
NM_001927.4(DES):c.63C>T (p.Ala21=)
|
rs201458068
|
0.00004
|
NM_001927.4(DES):c.937G>A (p.Ala313Thr)
|
rs766252091
|
0.00004
|
NM_001927.4(DES):c.1064G>A (p.Arg355Gln)
|
rs61368398
|
0.00003
|
NM_001927.4(DES):c.229A>G (p.Thr77Ala)
|
rs769034192
|
0.00003
|
NM_001927.4(DES):c.391C>A (p.Gln131Lys)
|
rs771499260
|
0.00003
|
NM_001927.4(DES):c.637G>A (p.Ala213Thr)
|
rs918962036
|
0.00003
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
NM_001927.4(DES):c.1049G>A (p.Arg350Gln)
|
rs57965306
|
0.00002
|
NM_001927.4(DES):c.1280A>G (p.Asn427Ser)
|
rs142712150
|
0.00002
|
NM_001927.4(DES):c.1288+1G>A
|
rs112224037
|
0.00002
|
NM_001927.4(DES):c.1308G>C (p.Arg436Ser)
|
rs985185092
|
0.00002
|
NM_001927.4(DES):c.1325C>A (p.Thr442Asn)
|
rs121913005
|
0.00002
|
NM_001927.4(DES):c.167T>A (p.Val56Glu)
|
rs1170549656
|
0.00002
|
NM_001927.4(DES):c.184G>A (p.Gly62Arg)
|
rs886044090
|
0.00002
|
NM_001927.4(DES):c.295C>G (p.Gln99Glu)
|
rs794728992
|
0.00002
|
NM_001927.4(DES):c.566G>A (p.Arg189Gln)
|
rs1025323214
|
0.00002
|
NM_001927.4(DES):c.609A>C (p.Glu203Asp)
|
rs369495436
|
0.00002
|
NM_001927.4(DES):c.680G>A (p.Arg227His)
|
rs141486420
|
0.00002
|
NM_001927.4(DES):c.708C>T (p.Ile236=)
|
rs886044078
|
0.00002
|
NM_001927.4(DES):c.728A>G (p.His243Arg)
|
rs1410266369
|
0.00002
|
NM_001927.4(DES):c.897+13G>A
|
rs201433470
|
0.00002
|
NM_001927.4(DES):c.933C>T (p.Asn311=)
|
rs756434148
|
0.00002
|
NM_001927.4(DES):c.-7C>G
|
rs764966574
|
0.00001
|
NM_001927.4(DES):c.1023+6T>G
|
rs1039179103
|
0.00001
|
NM_001927.4(DES):c.1027G>A (p.Asp343Asn)
|
rs763903197
|
0.00001
|
NM_001927.4(DES):c.1047G>A (p.Met349Ile)
|
rs375005961
|
0.00001
|
NM_001927.4(DES):c.1050G>A (p.Arg350=)
|
rs769505280
|
0.00001
|
NM_001927.4(DES):c.1063C>T (p.Arg355Ter)
|
rs762808690
|
0.00001
|
NM_001927.4(DES):c.1079C>T (p.Ala360Val)
|
rs141592925
|
0.00001
|
NM_001927.4(DES):c.1103C>T (p.Ala368Val)
|
rs371830218
|
0.00001
|
NM_001927.4(DES):c.1105C>T (p.Arg369Cys)
|
rs1475674849
|
0.00001
|
NM_001927.4(DES):c.1147C>T (p.Arg383Cys)
|
rs748945548
|
0.00001
|
NM_001927.4(DES):c.1148G>A (p.Arg383His)
|
rs1292042317
|
0.00001
|
NM_001927.4(DES):c.1180G>A (p.Val394Met)
|
rs776786349
|
0.00001
|
NM_001927.4(DES):c.1189G>T (p.Ala397Ser)
|
rs727502951
|
0.00001
|
NM_001927.4(DES):c.1217G>A (p.Arg406Gln)
|
rs1057520275
|
0.00001
|
NM_001927.4(DES):c.1258A>C (p.Ile420Leu)
|
rs1427557970
|
0.00001
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
NM_001927.4(DES):c.12C>A (p.Ala4=)
|
rs762566962
|
0.00001
|
NM_001927.4(DES):c.1333A>G (p.Thr445Ala)
|
rs267607498
|
0.00001
|
NM_001927.4(DES):c.1361G>A (p.Arg454Gln)
|
rs541585670
|
0.00001
|
NM_001927.4(DES):c.1404A>C (p.Glu468Asp)
|
rs397516691
|
0.00001
|
NM_001927.4(DES):c.146T>C (p.Val49Ala)
|
rs794728989
|
0.00001
|
NM_001927.4(DES):c.150G>T (p.Thr50=)
|
rs1179760415
|
0.00001
|
NM_001927.4(DES):c.218G>A (p.Arg73Gln)
|
rs752518966
|
0.00001
|
NM_001927.4(DES):c.225G>A (p.Gly75=)
|
rs777582958
|
0.00001
|
NM_001927.4(DES):c.237G>A (p.Thr79=)
|
rs727503899
|
0.00001
|
NM_001927.4(DES):c.254_255insT (p.Gly86fs)
|
rs1273708097
|
0.00001
|
NM_001927.4(DES):c.286G>T (p.Ala96Ser)
|
rs201190593
|
0.00001
|
NM_001927.4(DES):c.300G>A (p.Glu100=)
|
rs1339030541
|
0.00001
|
NM_001927.4(DES):c.322G>T (p.Glu108Ter)
|
rs62636490
|
0.00001
|
NM_001927.4(DES):c.328G>C (p.Val110Leu)
|
rs373081285
|
0.00001
|
NM_001927.4(DES):c.415G>C (p.Glu139Gln)
|
rs763769862
|
0.00001
|
NM_001927.4(DES):c.46C>T (p.Arg16Cys)
|
rs60798368
|
0.00001
|
NM_001927.4(DES):c.524G>A (p.Arg175His)
|
rs878854472
|
0.00001
|
NM_001927.4(DES):c.545A>C (p.Asn182Thr)
|
rs1358211194
|
0.00001
|
NM_001927.4(DES):c.54C>T (p.Phe18=)
|
rs1420981881
|
0.00001
|
NM_001927.4(DES):c.565C>T (p.Arg189Trp)
|
rs1223277151
|
0.00001
|
NM_001927.4(DES):c.615G>C (p.Glu205Asp)
|
rs1295010624
|
0.00001
|
NM_001927.4(DES):c.634C>T (p.Arg212Ter)
|
rs781590560
|
0.00001
|
NM_001927.4(DES):c.640-17C>T
|
rs762068048
|
0.00001
|
NM_001927.4(DES):c.664C>T (p.Arg222Cys)
|
rs374687448
|
0.00001
|
NM_001927.4(DES):c.66G>A (p.Pro22=)
|
rs767502653
|
0.00001
|
NM_001927.4(DES):c.694C>T (p.Leu232Phe)
|
rs764764823
|
0.00001
|
NM_001927.4(DES):c.727C>T (p.His243Tyr)
|
rs769647148
|
0.00001
|
NM_001927.4(DES):c.757C>T (p.Gln253Ter)
|
rs1187516594
|
0.00001
|
NM_001927.4(DES):c.794T>C (p.Met265Thr)
|
rs1457398926
|
0.00001
|
NM_001927.4(DES):c.79G>A (p.Gly27Ser)
|
rs727504877
|
0.00001
|
NM_001927.4(DES):c.822C>T (p.Leu274=)
|
rs763599850
|
0.00001
|
NM_001927.4(DES):c.883T>G (p.Trp295Gly)
|
rs794728986
|
0.00001
|
NM_001927.4(DES):c.885G>A (p.Trp295Ter)
|
rs146755676
|
0.00001
|
NM_001927.4(DES):c.894G>A (p.Ser298=)
|
rs747073500
|
0.00001
|
NM_001927.4(DES):c.91A>T (p.Ser31Cys)
|
rs1553603207
|
0.00001
|
NM_001927.4(DES):c.943C>T (p.Arg315Cys)
|
rs748742357
|
0.00001
|
NM_001927.4(DES):c.*40del
|
rs1954530107
|
|
NM_001927.4(DES):c.1009G>C (p.Ala337Pro)
|
rs59962885
|
|
NM_001927.4(DES):c.100G>A (p.Val34Met)
|
|
|
NM_001927.4(DES):c.1013T>G (p.Leu338Arg)
|
rs57496341
|
|
NM_001927.4(DES):c.1019G>A (p.Gly340Asp)
|
rs1559353118
|
|
NM_001927.4(DES):c.1023+6_1023+24dup
|
|
|
NM_001927.4(DES):c.1024A>G (p.Asn342Asp)
|
rs267607482
|
|
NM_001927.4(DES):c.1030T>C (p.Ser344Pro)
|
rs886044226
|
|
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
|
rs57639980
|
|
NM_001927.4(DES):c.1049G>C (p.Arg350Pro)
|
rs57965306
|
|
NM_001927.4(DES):c.105C>G (p.Phe35Leu)
|
rs768166041
|
|
NM_001927.4(DES):c.1064G>C (p.Arg355Pro)
|
rs61368398
|
|
NM_001927.4(DES):c.1069G>C (p.Ala357Pro)
|
rs58898021
|
|
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del)
|
rs58409037
|
|
NM_001927.4(DES):c.1078G>T (p.Ala360Ser)
|
rs121913000
|
|
NM_001927.4(DES):c.1090C>A (p.Gln364Lys)
|
rs1224165687
|
|
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)
|
rs58687088
|
|
NM_001927.4(DES):c.1099A>G (p.Ile367Val)
|
rs62636494
|
|
NM_001927.4(DES):c.1099A>T (p.Ile367Phe)
|
rs62636494
|
|
NM_001927.4(DES):c.109C>G (p.Arg37Gly)
|
rs537881554
|
|
NM_001927.4(DES):c.1100T>C (p.Ile367Thr)
|
rs1480755998
|
|
NM_001927.4(DES):c.1109T>C (p.Leu370Pro)
|
rs59308628
|
|
NM_001927.4(DES):c.1126C>T (p.His376Tyr)
|
rs57404866
|
|
NM_001927.4(DES):c.1133A>C (p.Lys378Thr)
|
rs202010947
|
|
NM_001927.4(DES):c.114G>A (p.Ala38=)
|
rs368901105
|
|
NM_001927.4(DES):c.1154T>C (p.Leu385Pro)
|
rs57955682
|
|
NM_001927.4(DES):c.1157G>A (p.Arg386His)
|
rs1029457073
|
|
NM_001927.4(DES):c.1158_1160del (p.Glu387del)
|
rs1559353314
|
|
NM_001927.4(DES):c.1166A>C (p.Gln389Pro)
|
rs121913004
|
|
NM_001927.4(DES):c.1167G>T (p.Gln389His)
|
rs794727789
|
|
NM_001927.4(DES):c.1172T>C (p.Leu391Pro)
|
rs1954443135
|
|
NM_001927.4(DES):c.1175T>C (p.Leu392Pro)
|
rs62636493
|
|
NM_001927.4(DES):c.1178A>T (p.Asn393Ile)
|
rs121913001
|
|
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr)
|
rs61130669
|
|
NM_001927.4(DES):c.119T>C (p.Phe40Ser)
|
|
|
NM_001927.4(DES):c.1201G>A (p.Glu401Lys)
|
rs57694264
|
|
NM_001927.4(DES):c.1213del (p.Tyr405fs)
|
rs886043080
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001927.4(DES):c.1217G>T (p.Arg406Leu)
|
rs1057520275
|
|
NM_001927.4(DES):c.1223del (p.Leu408fs)
|
rs886041454
|
|
NM_001927.4(DES):c.1237G>A (p.Glu413Lys)
|
rs61726467
|
|
NM_001927.4(DES):c.1243C>G (p.Arg415Gly)
|
rs751942358
|
|
NM_001927.4(DES):c.1244+123del
|
rs374091713
|
|
NM_001927.4(DES):c.1244+123dup
|
rs374091713
|
|
NM_001927.4(DES):c.1245-3T>C
|
|
|
NM_001927.4(DES):c.1245-3T>G
|
rs111427762
|
|
NM_001927.4(DES):c.1255C>T (p.Pro419Ser)
|
rs62635763
|
|
NM_001927.4(DES):c.1255_1271del (p.Pro419fs)
|
rs1553603732
|
|
NM_001927.4(DES):c.1256C>T (p.Pro419Leu)
|
rs796667045
|
|
NM_001927.4(DES):c.1271C>T (p.Ser424Phe)
|
rs886042791
|
|
NM_001927.4(DES):c.1275C>T (p.Ala425=)
|
rs1553603739
|
|
NM_001927.4(DES):c.1286G>A (p.Arg429Gln)
|
rs200580581
|
|
NM_001927.4(DES):c.1289-2A>G
|
rs398122940
|
|
NM_001927.4(DES):c.1289-741G>A
|
rs985650778
|
|
NM_001927.4(DES):c.1297C>T (p.Pro433Ser)
|
|
|
NM_001927.4(DES):c.130G>A (p.Gly44Ser)
|
rs1064794869
|
|
NM_001927.4(DES):c.1322A>T (p.His441Leu)
|
rs1064796937
|
|
NM_001927.4(DES):c.1324A>G (p.Thr442Ala)
|
rs794728995
|
|
NM_001927.4(DES):c.1325C>T (p.Thr442Ile)
|
rs121913005
|
|
NM_001927.4(DES):c.1342A>G (p.Ile448Val)
|
|
|
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del)
|
rs1064796352
|
|
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)
|
rs267607485
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
NM_001927.4(DES):c.1353C>T (p.Ile451=)
|
rs121913002
|
|
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
|
|
|
NM_001927.4(DES):c.1358C>T (p.Thr453Ile)
|
rs267607488
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.1364A>T (p.Asp455Val)
|
rs2125172066
|
|
NM_001927.4(DES):c.1370A>T (p.Glu457Val)
|
rs267607496
|
|
NM_001927.4(DES):c.1371+1G>C
|
rs748323823
|
|
NM_001927.4(DES):c.1372-3dup
|
rs876657769
|
|
NM_001927.4(DES):c.1372-6C>T
|
|
|
NM_001927.4(DES):c.1372-8C>T
|
rs794727968
|
|
NM_001927.4(DES):c.1379G>T (p.Ser460Ile)
|
rs267607491
|
|
NM_001927.4(DES):c.137C>A (p.Ser46Tyr)
|
rs60794845
|
|
NM_001927.4(DES):c.137C>T (p.Ser46Phe)
|
rs60794845
|
|
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu)
|
rs1060503170
|
|
NM_001927.4(DES):c.1404A>G (p.Glu468=)
|
rs397516691
|
|
NM_001927.4(DES):c.1405G>A (p.Val469Met)
|
rs267607487
|
|
NM_001927.4(DES):c.1411T>C (p.Ter471Gln)
|
rs886044329
|
|
NM_001927.4(DES):c.1412A>C (p.Ter471Ser)
|
rs794728991
|
|
NM_001927.4(DES):c.141C>A (p.Ser47Arg)
|
rs749028181
|
|
NM_001927.4(DES):c.154C>A (p.Arg52Ser)
|
rs794728990
|
|
NM_001927.4(DES):c.195C>T (p.Gly65=)
|
rs1256584430
|
|
NM_001927.4(DES):c.1A>G (p.Met1Val)
|
rs1057523274
|
|
NM_001927.4(DES):c.206T>C (p.Leu69Pro)
|
|
|
NM_001927.4(DES):c.20C>T (p.Ser7Phe)
|
rs903985237
|
|
NM_001927.4(DES):c.210G>C (p.Arg70=)
|
rs761255472
|
|
NM_001927.4(DES):c.231C>A (p.Thr77=)
|
|
|
NM_001927.4(DES):c.25C>G (p.Gln9Glu)
|
rs886044488
|
|
NM_001927.4(DES):c.262_263inv (p.Leu88Arg)
|
|
|
NM_001927.4(DES):c.30C>A (p.Arg10=)
|
rs886042179
|
|
NM_001927.4(DES):c.313C>G (p.Arg105Gly)
|
|
|
NM_001927.4(DES):c.322G>A (p.Glu108Lys)
|
rs62636490
|
|
NM_001927.4(DES):c.326A>G (p.Lys109Arg)
|
rs1488426454
|
|
NM_001927.4(DES):c.327G>T (p.Lys109Asn)
|
rs2125166233
|
|
NM_001927.4(DES):c.332A>G (p.Glu111Gly)
|
rs1575013251
|
|
NM_001927.4(DES):c.338_339del (p.Gln113fs)
|
rs267607497
|
|
NM_001927.4(DES):c.340_342del (p.Glu114del)
|
rs267607493
|
|
NM_001927.4(DES):c.347A>G (p.Asn116Ser)
|
rs267607499
|
|
NM_001927.4(DES):c.348T>A (p.Asn116Lys)
|
rs766333303
|
|
NM_001927.4(DES):c.352C>T (p.Arg118Cys)
|
rs1188232371
|
|
NM_001927.4(DES):c.358G>C (p.Ala120Pro)
|
rs794728996
|
|
NM_001927.4(DES):c.35C>T (p.Ser12Phe)
|
rs267607495
|
|
NM_001927.4(DES):c.364T>G (p.Tyr122Asp)
|
rs794728994
|
|
NM_001927.4(DES):c.365A>G (p.Tyr122Cys)
|
rs1400593451
|
|
NM_001927.4(DES):c.368T>A (p.Ile123Asn)
|
rs1954373441
|
|
NM_001927.4(DES):c.373A>T (p.Lys125Ter)
|
rs886043000
|
|
NM_001927.4(DES):c.380G>A (p.Arg127His)
|
|
|
NM_001927.4(DES):c.380G>C (p.Arg127Pro)
|
rs397516694
|
|
NM_001927.4(DES):c.38C>A (p.Ser13Tyr)
|
rs62636495
|
|
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
|
rs62636495
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
NM_001927.4(DES):c.407T>C (p.Leu136Pro)
|
rs397516695
|
|
NM_001927.4(DES):c.423C>T (p.Asn141=)
|
rs1954375978
|
|
NM_001927.4(DES):c.43C>A (p.Arg15Ser)
|
rs756390565
|
|
NM_001927.4(DES):c.449G>A (p.Arg150Gln)
|
rs876661344
|
|
NM_001927.4(DES):c.465C>T (p.Tyr155=)
|
rs1458306248
|
|
NM_001927.4(DES):c.466G>A (p.Glu156Lys)
|
rs765471098
|
|
NM_001927.4(DES):c.473A>T (p.Glu158Val)
|
rs1085307571
|
|
NM_001927.4(DES):c.476T>C (p.Leu159Pro)
|
rs1559352425
|
|
NM_001927.4(DES):c.479G>A (p.Arg160Gln)
|
rs1173534531
|
|
NM_001927.4(DES):c.494A>G (p.Gln165Arg)
|
rs1369044757
|
|
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del)
|
rs60538473
|
|
NM_001927.4(DES):c.529G>A (p.Asp177Asn)
|
rs1057524813
|
|
NM_001927.4(DES):c.537_542dup (p.Arg180_Asp181insGluArg)
|
|
|
NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)
|
|
|
NM_001927.4(DES):c.541G>C (p.Asp181His)
|
rs1297244198
|
|
NM_001927.4(DES):c.543C>G (p.Asp181Glu)
|
|
|
NM_001927.4(DES):c.554A>T (p.Asp185Val)
|
|
|
NM_001927.4(DES):c.558C>G (p.Asp186Glu)
|
rs1575013561
|
|
NM_001927.4(DES):c.55G>C (p.Gly19Arg)
|
rs936853024
|
|
NM_001927.4(DES):c.560T>C (p.Leu187Pro)
|
rs1248833348
|
|
NM_001927.4(DES):c.567G>C (p.Arg189=)
|
rs886044489
|
|
NM_001927.4(DES):c.571A>G (p.Lys191Glu)
|
rs1483093429
|
|
NM_001927.4(DES):c.578+64T>G
|
rs907677
|
|
NM_001927.4(DES):c.579-100G>C
|
rs2666106
|
|
NM_001927.4(DES):c.579-5C>T
|
rs886042889
|
|
NM_001927.4(DES):c.5G>T (p.Ser2Ile)
|
rs58999456
|
|
NM_001927.4(DES):c.600G>A (p.Leu200=)
|
rs1575014014
|
|
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
|
|
|
NM_001927.4(DES):c.604del (p.Glu202fs)
|
|
|
NM_001927.4(DES):c.610G>T (p.Ala204Ser)
|
rs1575014034
|
|
NM_001927.4(DES):c.61G>A (p.Ala21Thr)
|
|
|
NM_001927.4(DES):c.623T>C (p.Leu208Ser)
|
rs373062962
|
|
NM_001927.4(DES):c.625G>C (p.Ala209Pro)
|
rs1553603386
|
|
NM_001927.4(DES):c.640-1G>A
|
rs267607484
|
|
NM_001927.4(DES):c.640-2A>G
|
rs267607492
|
|
NM_001927.4(DES):c.664C>G (p.Arg222Gly)
|
rs374687448
|
|
NM_001927.4(DES):c.709G>A (p.Ala237Thr)
|
rs397516697
|
|
NM_001927.4(DES):c.709G>T (p.Ala237Ser)
|
rs397516697
|
|
NM_001927.4(DES):c.723dup (p.Val242fs)
|
rs57659464
|
|
NM_001927.4(DES):c.725T>A (p.Val242Glu)
|
rs794728984
|
|
NM_001927.4(DES):c.735+14C>T
|
rs2125167702
|
|
NM_001927.4(DES):c.735+1G>A
|
rs397516698
|
|
NM_001927.4(DES):c.735+2T>C
|
|
|
NM_001927.4(DES):c.735+2_735+11del
|
rs267607489
|
|
NM_001927.4(DES):c.735+3A>G
|
rs267607483
|
|
NM_001927.4(DES):c.735G>A (p.Glu245=)
|
rs267607486
|
|
NM_001927.4(DES):c.735G>C (p.Glu245Asp)
|
rs267607486
|
|
NM_001927.4(DES):c.742C>T (p.Arg248Cys)
|
rs772117708
|
|
NM_001927.4(DES):c.743G>A (p.Arg248His)
|
rs375906682
|
|
NM_001927.4(DES):c.768A>G (p.Glu256=)
|
rs886044420
|
|
NM_001927.4(DES):c.77T>A (p.Leu26His)
|
rs1064796529
|
|
NM_001927.4(DES):c.78C>G (p.Leu26=)
|
rs1252527107
|
|
NM_001927.4(DES):c.7C>T (p.Gln3Ter)
|
rs1954358233
|
|
NM_001927.4(DES):c.802C>G (p.Pro268Ala)
|
rs1434613160
|
|
NM_001927.4(DES):c.816dup (p.Ala273fs)
|
rs2125167896
|
|
NM_001927.4(DES):c.817G>T (p.Ala273Ser)
|
rs770258461
|
|
NM_001927.4(DES):c.821T>C (p.Leu274Pro)
|
rs267607494
|
|
NM_001927.4(DES):c.821T>G (p.Leu274Arg)
|
rs267607494
|
|
NM_001927.4(DES):c.832C>T (p.Arg278Trp)
|
rs794728985
|
|
NM_001927.4(DES):c.833G>C (p.Arg278Pro)
|
rs761475402
|
|
NM_001927.4(DES):c.864C>A (p.Asn288Lys)
|
rs1954421395
|
|
NM_001927.4(DES):c.869C>A (p.Ser290Tyr)
|
rs981782522
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_001927.4(DES):c.93T>G (p.Ser31Arg)
|
rs2017800
|
|
NM_001927.4(DES):c.944G>A (p.Arg315His)
|
rs771455648
|
|
NM_001927.4(DES):c.956A>C (p.Gln319Pro)
|
|
|
NM_001927.4(DES):c.962T>A (p.Met321Lys)
|
|
|
NM_001927.4(DES):c.962T>C (p.Met321Thr)
|
rs760197212
|
|
NM_001927.4(DES):c.973C>T (p.Arg325Ter)
|
rs959034410
|
|
NM_001927.4(DES):c.976C>T (p.His326Tyr)
|
rs794728987
|
|
NM_001927.4(DES):c.97C>T (p.Pro33Ser)
|
rs886042942
|
|
NM_001927.4(DES):c.985C>T (p.Gln329Ter)
|
rs759320891
|
|
NM_001927.4(DES):c.986A>C (p.Gln329Pro)
|
rs1060503168
|
|
NM_001927.4(DES):c.991T>A (p.Tyr331Asn)
|
rs1064795298
|
|
NM_001927.4(DES):c.999C>T (p.Cys333=)
|
rs1157722667
|
|