NM_001395413.1(POR):c.1446T>C (p.Ala482=)
|
rs2228104
|
0.86727
|
NM_001395413.1(POR):c.1058-13C>G
|
rs4732516
|
0.84641
|
NM_001395413.1(POR):c.1707G>A (p.Ser569=)
|
rs1057870
|
0.28425
|
NM_001395413.1(POR):c.1239+12C>T
|
rs2286822
|
0.27856
|
NM_001395413.1(POR):c.1239+20G>A
|
rs2286823
|
0.27178
|
NM_001395413.1(POR):c.1499C>T (p.Ala500Val)
|
rs1057868
|
0.26722
|
NM_001395413.1(POR):c.378A>G (p.Pro126=)
|
rs1135612
|
0.20982
|
NM_001395413.1(POR):c.6A>G (p.Gly2=)
|
rs10262966
|
0.07713
|
NM_001395413.1(POR):c.*207C>G
|
rs41302348
|
0.00808
|
NM_001395413.1(POR):c.*51C>T
|
rs41302345
|
0.00770
|
NM_001395413.1(POR):c.360C>T (p.Ala120=)
|
rs41299490
|
0.00719
|
NM_001395413.1(POR):c.78G>A (p.Thr26=)
|
rs41295381
|
0.00681
|
NM_001395413.1(POR):c.1889+3G>A
|
rs41301439
|
0.00568
|
NM_001395413.1(POR):c.*240C>T
|
rs13921
|
0.00471
|
NM_001395413.1(POR):c.508-4G>A
|
rs41299496
|
0.00462
|
NM_001395413.1(POR):c.508-14_508-13del
|
rs72557912
|
0.00363
|
NM_001395413.1(POR):c.1661-17C>T
|
rs10265262
|
0.00362
|
NM_001395413.1(POR):c.*63C>T
|
rs72557961
|
0.00342
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
NM_001395413.1(POR):c.1889+13G>T
|
rs72557956
|
0.00178
|
NM_001395413.1(POR):c.*60C>T
|
rs72557960
|
0.00173
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
NM_001395413.1(POR):c.308A>G (p.His103Arg)
|
rs200622912
|
0.00093
|
NM_001395413.1(POR):c.678C>T (p.Ala226=)
|
rs72557906
|
0.00089
|
NM_001395413.1(POR):c.*76G>A
|
rs55909219
|
0.00062
|
NM_001395413.1(POR):c.675G>A (p.Pro225=)
|
rs72555510
|
0.00062
|
NM_001395413.1(POR):c.1106C>T (p.Thr369Met)
|
rs367810540
|
0.00058
|
NM_001395413.1(POR):c.1806+12G>A
|
rs371432868
|
0.00058
|
NM_001395413.1(POR):c.390C>T (p.Asn130=)
|
rs181837747
|
0.00049
|
NM_001395413.1(POR):c.1516C>T (p.Arg506Cys)
|
rs374141883
|
0.00048
|
NM_001395413.1(POR):c.633-5C>G
|
rs72555509
|
0.00047
|
NM_001395413.1(POR):c.1521G>A (p.Ala507=)
|
rs368697465
|
0.00046
|
NM_001395413.1(POR):c.1227C>T (p.Ser409=)
|
rs41301424
|
0.00041
|
NM_001395413.1(POR):c.1095G>A (p.Thr365=)
|
rs150414675
|
0.00034
|
NM_001395413.1(POR):c.1228G>A (p.Gly410Ser)
|
rs567904247
|
0.00029
|
NM_001395413.1(POR):c.1512C>T (p.Gly504=)
|
rs370823127
|
0.00029
|
NM_001395413.1(POR):c.456C>T (p.Phe152=)
|
rs372672054
|
0.00026
|
NM_001395413.1(POR):c.508-20C>T
|
rs200924788
|
0.00026
|
NM_001395413.1(POR):c.522G>T (p.Gly174=)
|
rs72557913
|
0.00026
|
NM_001395413.1(POR):c.*179G>A
|
rs184275273
|
0.00024
|
NM_001395413.1(POR):c.*273T>C
|
rs782378740
|
0.00024
|
NM_001395413.1(POR):c.1806+8G>A
|
rs72557952
|
0.00024
|
NM_001395413.1(POR):c.1482G>T (p.Leu494=)
|
rs370326231
|
0.00023
|
NM_001395413.1(POR):c.*218C>T
|
rs539326245
|
0.00021
|
NM_001395413.1(POR):c.735C>T (p.Tyr245=)
|
rs201786397
|
0.00021
|
NM_001395413.1(POR):c.*178C>T
|
rs535637875
|
0.00019
|
NM_001395413.1(POR):c.180-10T>C
|
rs374111607
|
0.00017
|
NM_001395413.1(POR):c.1208G>A (p.Arg403His)
|
rs72557929
|
0.00016
|
NM_001395413.1(POR):c.1661-16G>A
|
rs377723544
|
0.00016
|
NM_001395413.1(POR):c.506C>T (p.Ala169Val)
|
rs374967948
|
0.00016
|
NM_001395413.1(POR):c.1776C>T (p.Asn592=)
|
rs782559723
|
0.00015
|
NM_001395413.1(POR):c.793C>T (p.Arg265Trp)
|
rs200471958
|
0.00015
|
NM_001395413.1(POR):c.1255T>G (p.Trp419Gly)
|
rs536353066
|
0.00014
|
NM_001395413.1(POR):c.1700G>A (p.Arg567His)
|
rs372955296
|
0.00014
|
NM_001395413.1(POR):c.2009G>A (p.Arg670His)
|
rs376693603
|
0.00014
|
NM_001395413.1(POR):c.149A>T (p.Glu50Val)
|
rs376145249
|
0.00013
|
NM_001395413.1(POR):c.335C>T (p.Ala112Val)
|
rs199634961
|
0.00013
|
NM_001395413.1(POR):c.391G>A (p.Ala131Thr)
|
rs201365892
|
0.00013
|
NM_001395413.1(POR):c.1419G>A (p.Ala473=)
|
rs782722572
|
0.00011
|
NM_001395413.1(POR):c.1671G>C (p.Val557=)
|
rs782786537
|
0.00011
|
NM_001395413.1(POR):c.1755C>T (p.Asp585=)
|
rs72557949
|
0.00011
|
NM_001395413.1(POR):c.1867G>A (p.Gly623Ser)
|
rs369181144
|
0.00011
|
NM_001395413.1(POR):c.710G>A (p.Gly237Asp)
|
rs782746344
|
0.00011
|
NM_001395413.1(POR):c.1191G>A (p.Ser397=)
|
rs372401863
|
0.00010
|
NM_001395413.1(POR):c.1509C>T (p.Asn503=)
|
rs782397055
|
0.00010
|
NM_001395413.1(POR):c.150A>C (p.Glu50Asp)
|
rs370701548
|
0.00010
|
NM_001395413.1(POR):c.1578G>A (p.Thr526=)
|
rs371795413
|
0.00010
|
NM_001395413.1(POR):c.1806+7C>T
|
rs72557951
|
0.00009
|
NM_001395413.1(POR):c.1933G>A (p.Asp645Asn)
|
rs372930296
|
0.00009
|
NM_001395413.1(POR):c.357+14G>A
|
rs372941705
|
0.00009
|
NM_001395413.1(POR):c.468G>A (p.Leu156=)
|
rs782013669
|
0.00009
|
NM_001395413.1(POR):c.571C>T (p.Arg191Trp)
|
rs782025961
|
0.00009
|
NM_001395413.1(POR):c.1085C>T (p.Pro362Leu)
|
rs373022822
|
0.00008
|
NM_001395413.1(POR):c.1115C>T (p.Thr372Ile)
|
rs782402961
|
0.00008
|
NM_001395413.1(POR):c.1944T>G (p.Ala648=)
|
rs370865328
|
0.00008
|
NM_001395413.1(POR):c.1974G>A (p.Ala658=)
|
rs367807239
|
0.00008
|
NM_001395413.1(POR):c.1966G>A (p.Ala656Thr)
|
rs373737641
|
0.00007
|
NM_001395413.1(POR):c.*33C>T
|
rs200310098
|
0.00006
|
NM_001395413.1(POR):c.1207C>T (p.Arg403Cys)
|
rs202243657
|
0.00006
|
NM_001395413.1(POR):c.1305G>A (p.Pro435=)
|
rs199937789
|
0.00006
|
NM_001395413.1(POR):c.1389+9C>T
|
rs781864218
|
0.00006
|
NM_001395413.1(POR):c.1465G>A (p.Val489Met)
|
rs377451454
|
0.00006
|
NM_001395413.1(POR):c.1750A>G (p.Arg584Gly)
|
rs781795917
|
0.00006
|
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)
|
rs782261248
|
0.00006
|
NM_001395413.1(POR):c.1950C>T (p.Leu650=)
|
rs41301442
|
0.00006
|
NM_001395413.1(POR):c.229-5C>T
|
rs782035827
|
0.00006
|
NM_001395413.1(POR):c.420C>T (p.Tyr140=)
|
rs368468521
|
0.00006
|
NM_001395413.1(POR):c.45G>A (p.Ala15=)
|
rs782378313
|
0.00006
|
NM_001395413.1(POR):c.504C>T (p.Phe168=)
|
rs372715546
|
0.00006
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
NM_001395413.1(POR):c.137A>G (p.Lys46Arg)
|
rs782289780
|
0.00005
|
NM_001395413.1(POR):c.1444G>A (p.Ala482Thr)
|
rs72557947
|
0.00005
|
NM_001395413.1(POR):c.1603A>C (p.Thr535Pro)
|
rs782814705
|
0.00005
|
NM_001395413.1(POR):c.1389+15T>A
|
rs782664345
|
0.00004
|
NM_001395413.1(POR):c.1418C>T (p.Ala473Val)
|
rs782156085
|
0.00004
|
NM_001395413.1(POR):c.1492G>A (p.Glu498Lys)
|
rs782697310
|
0.00004
|
NM_001395413.1(POR):c.1510G>A (p.Gly504Ser)
|
rs565343242
|
0.00004
|
NM_001395413.1(POR):c.1555C>T (p.Arg519Cys)
|
rs782533830
|
0.00004
|
NM_001395413.1(POR):c.1640G>A (p.Arg547Gln)
|
rs1320059073
|
0.00004
|
NM_001395413.1(POR):c.1661-4G>A
|
rs372733766
|
0.00004
|
NM_001395413.1(POR):c.1693G>A (p.Gly565Ser)
|
rs779082897
|
0.00004
|
NM_001395413.1(POR):c.1702C>T (p.Arg568Cys)
|
rs782247167
|
0.00004
|
NM_001395413.1(POR):c.1939G>A (p.Val647Met)
|
rs148175064
|
0.00004
|
NM_001395413.1(POR):c.311G>A (p.Arg104His)
|
rs782776557
|
0.00004
|
NM_001395413.1(POR):c.34G>A (p.Val12Met)
|
rs369118442
|
0.00004
|
NM_001395413.1(POR):c.588C>T (p.Gly196=)
|
rs1489904713
|
0.00004
|
NM_001395413.1(POR):c.633-8C>T
|
rs782533498
|
0.00004
|
NM_001395413.1(POR):c.723-2A>T
|
rs782343026
|
0.00004
|
NM_001395413.1(POR):c.*21C>A
|
rs782245884
|
0.00003
|
NM_001395413.1(POR):c.1176C>T (p.Tyr392=)
|
rs782192787
|
0.00003
|
NM_001395413.1(POR):c.1270C>T (p.Arg424Trp)
|
rs782197760
|
0.00003
|
NM_001395413.1(POR):c.1390-14G>A
|
rs782583370
|
0.00003
|
NM_001395413.1(POR):c.162C>G (p.Phe54Leu)
|
rs927062544
|
0.00003
|
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter)
|
rs782336856
|
0.00003
|
NM_001395413.1(POR):c.1660+5G>C
|
rs782407937
|
0.00003
|
NM_001395413.1(POR):c.1662C>T (p.Gly554=)
|
rs541657992
|
0.00003
|
NM_001395413.1(POR):c.1789C>T (p.Arg597Trp)
|
rs72557950
|
0.00003
|
NM_001395413.1(POR):c.205T>C (p.Phe69Leu)
|
rs782107314
|
0.00003
|
NM_001395413.1(POR):c.229-10C>A
|
rs542774696
|
0.00003
|
NM_001395413.1(POR):c.315C>T (p.Tyr105=)
|
rs782376709
|
0.00003
|
NM_001395413.1(POR):c.316G>A (p.Gly106Arg)
|
rs372623440
|
0.00003
|
NM_001395413.1(POR):c.560A>G (p.Tyr187Cys)
|
rs782681272
|
0.00003
|
NM_001395413.1(POR):c.723-13C>T
|
rs372119575
|
0.00003
|
NM_001395413.1(POR):c.821+2dup
|
rs886062440
|
0.00003
|
NM_001395413.1(POR):c.1143G>A (p.Pro381=)
|
rs375444057
|
0.00002
|
NM_001395413.1(POR):c.1354del (p.Gln452fs)
|
rs781805159
|
0.00002
|
NM_001395413.1(POR):c.1389+10G>A
|
rs782345141
|
0.00002
|
NM_001395413.1(POR):c.1396C>G (p.Pro466Ala)
|
rs558340290
|
0.00002
|
NM_001395413.1(POR):c.157G>A (p.Glu53Lys)
|
rs782151568
|
0.00002
|
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)
|
rs121912976
|
0.00002
|
NM_001395413.1(POR):c.1661-12C>T
|
rs369107420
|
0.00002
|
NM_001395413.1(POR):c.1661-20C>A
|
rs1335012473
|
0.00002
|
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr)
|
rs28931607
|
0.00002
|
NM_001395413.1(POR):c.1837C>T (p.Arg613Ter)
|
rs781946801
|
0.00002
|
NM_001395413.1(POR):c.1881C>T (p.Tyr627=)
|
rs113741710
|
0.00002
|
NM_001395413.1(POR):c.1926C>T (p.Thr642=)
|
rs557596726
|
0.00002
|
NM_001395413.1(POR):c.1973C>T (p.Ala658Val)
|
rs782753228
|
0.00002
|
NM_001395413.1(POR):c.460G>A (p.Asp154Asn)
|
rs782422122
|
0.00002
|
NM_001395413.1(POR):c.572G>A (p.Arg191Gln)
|
rs769916309
|
0.00002
|
NM_001395413.1(POR):c.711C>T (p.Gly237=)
|
rs374115833
|
0.00002
|
NM_001395413.1(POR):c.772G>A (p.Val258Met)
|
rs1371752607
|
0.00002
|
NM_001395413.1(POR):c.103G>A (p.Val35Met)
|
rs782469484
|
0.00001
|
NM_001395413.1(POR):c.1152C>T (p.Asn384=)
|
rs1554558784
|
0.00001
|
NM_001395413.1(POR):c.1173G>A (p.Gln391=)
|
rs1220024534
|
0.00001
|
NM_001395413.1(POR):c.1222T>G (p.Ser408Ala)
|
rs781842238
|
0.00001
|
NM_001395413.1(POR):c.1240-16C>T
|
rs1266871005
|
0.00001
|
NM_001395413.1(POR):c.1256G>T (p.Trp419Leu)
|
rs1419019194
|
0.00001
|
NM_001395413.1(POR):c.1374C>T (p.Ile458=)
|
rs1003383217
|
0.00001
|
NM_001395413.1(POR):c.1375G>A (p.Ala459Thr)
|
rs72557936
|
0.00001
|
NM_001395413.1(POR):c.1526T>C (p.Val509Ala)
|
rs1789403650
|
0.00001
|
NM_001395413.1(POR):c.1575C>T (p.Thr525=)
|
rs933264724
|
0.00001
|
NM_001395413.1(POR):c.1585A>G (p.Ile529Val)
|
rs886062442
|
0.00001
|
NM_001395413.1(POR):c.160T>C (p.Phe54Leu)
|
rs782711779
|
0.00001
|
NM_001395413.1(POR):c.163A>G (p.Thr55Ala)
|
rs781793249
|
0.00001
|
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)
|
rs370645073
|
0.00001
|
NM_001395413.1(POR):c.1726C>T (p.Arg576Trp)
|
rs868927799
|
0.00001
|
NM_001395413.1(POR):c.179+2T>C
|
rs936203749
|
0.00001
|
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)
|
rs72557954
|
0.00001
|
NM_001395413.1(POR):c.182C>T (p.Thr61Ile)
|
rs868909994
|
0.00001
|
NM_001395413.1(POR):c.1959G>T (p.Met653Ile)
|
rs377283521
|
0.00001
|
NM_001395413.1(POR):c.1962G>C (p.Glu654Asp)
|
rs371420725
|
0.00001
|
NM_001395413.1(POR):c.1968G>A (p.Ala656=)
|
rs782446980
|
0.00001
|
NM_001395413.1(POR):c.1991A>C (p.Lys664Thr)
|
rs782588164
|
0.00001
|
NM_001395413.1(POR):c.2013C>T (p.Tyr671=)
|
rs1554559514
|
0.00001
|
NM_001395413.1(POR):c.251A>G (p.Tyr84Cys)
|
rs1047228872
|
0.00001
|
NM_001395413.1(POR):c.301G>A (p.Asp101Asn)
|
rs958254199
|
0.00001
|
NM_001395413.1(POR):c.438C>T (p.Thr146=)
|
rs782302163
|
0.00001
|
NM_001395413.1(POR):c.484G>T (p.Asp162Tyr)
|
rs1003447223
|
0.00001
|
NM_001395413.1(POR):c.754G>A (p.Asp252Asn)
|
rs41299514
|
0.00001
|
NM_001395413.1(POR):c.764C>T (p.Ala255Val)
|
rs367782552
|
0.00001
|
NM_001395413.1(POR):c.821+15C>T
|
rs540000393
|
0.00001
|
NM_001395413.1(POR):c.821C>T (p.Pro274Leu)
|
rs369749344
|
0.00001
|
NM_001395413.1(POR):c.*137G>A
|
rs886062443
|
|
NM_001395413.1(POR):c.*219G>T
|
rs557751714
|
|
NM_001395413.1(POR):c.*291G>A
|
rs886062445
|
|
NM_001395413.1(POR):c.*306G>A
|
rs17685
|
|
NM_001395413.1(POR):c.*40T>G
|
rs1789485173
|
|
NM_001395413.1(POR):c.102C>T (p.Ile34=)
|
rs371758475
|
|
NM_001395413.1(POR):c.1058-4G>A
|
|
|
NM_001395413.1(POR):c.1068C>T (p.Asn356=)
|
|
|
NM_001395413.1(POR):c.1086G>A (p.Pro362=)
|
|
|
NM_001395413.1(POR):c.1086G>C (p.Pro362=)
|
|
|
NM_001395413.1(POR):c.1086G>T (p.Pro362=)
|
|
|
NM_001395413.1(POR):c.1089C>T (p.Cys363=)
|
|
|
NM_001395413.1(POR):c.1092T>A (p.Pro364=)
|
rs782729580
|
|
NM_001395413.1(POR):c.1103G>A (p.Arg368His)
|
|
|
NM_001395413.1(POR):c.1103_1109del (p.Arg368fs)
|
|
|
NM_001395413.1(POR):c.1107G>A (p.Thr369=)
|
|
|
NM_001395413.1(POR):c.1107G>C (p.Thr369=)
|
|
|
NM_001395413.1(POR):c.1110C>T (p.Ala370=)
|
|
|
NM_001395413.1(POR):c.111C>T (p.Leu37=)
|
|
|
NM_001395413.1(POR):c.1125G>A (p.Leu375=)
|
rs112719660
|
|
NM_001395413.1(POR):c.1129A>G (p.Ile377Val)
|
|
|
NM_001395413.1(POR):c.1140G>A (p.Pro380=)
|
|
|
NM_001395413.1(POR):c.1149C>G (p.Thr383=)
|
|
|
NM_001395413.1(POR):c.115del (p.Thr39fs)
|
|
|
NM_001395413.1(POR):c.1161C>T (p.Tyr387=)
|
|
|
NM_001395413.1(POR):c.1169C>T (p.Ala390Val)
|
|
|
NM_001395413.1(POR):c.1170G>A (p.Ala390=)
|
|
|
NM_001395413.1(POR):c.1172del (p.Gln391fs)
|
|
|
NM_001395413.1(POR):c.1178CCTCGGAGC[1] (p.Pro396_Glu398del)
|
|
|
NM_001395413.1(POR):c.1181C>T (p.Ser394Leu)
|
|
|
NM_001395413.1(POR):c.1182G>A (p.Ser394=)
|
rs72557928
|
|
NM_001395413.1(POR):c.1182G>T (p.Ser394=)
|
|
|
NM_001395413.1(POR):c.1188C>T (p.Pro396=)
|
|
|
NM_001395413.1(POR):c.1194G>A (p.Glu398=)
|
|
|
NM_001395413.1(POR):c.1201C>T (p.Leu401=)
|
|
|
NM_001395413.1(POR):c.1209C>G (p.Arg403=)
|
|
|
NM_001395413.1(POR):c.1218C>G (p.Ala406=)
|
|
|
NM_001395413.1(POR):c.1224C>G (p.Ser408=)
|
|
|
NM_001395413.1(POR):c.1224C>T (p.Ser408=)
|
|
|
NM_001395413.1(POR):c.1231G>T (p.Glu411Ter)
|
|
|
NM_001395413.1(POR):c.1236C>T (p.Gly412=)
|
rs1220545486
|
|
NM_001395413.1(POR):c.1239+10_1239+33del
|
rs782146699
|
|
NM_001395413.1(POR):c.1239+10del
|
rs797045899
|
|
NM_001395413.1(POR):c.1239+11_1239+19del
|
rs782775039
|
|
NM_001395413.1(POR):c.1239+14_1239+22del
|
|
|
NM_001395413.1(POR):c.1239+15C>T
|
|
|
NM_001395413.1(POR):c.1239+16C>T
|
|
|
NM_001395413.1(POR):c.1239+17C>T
|
|
|
NM_001395413.1(POR):c.1239+18C>T
|
|
|
NM_001395413.1(POR):c.1239+19C>T
|
|
|
NM_001395413.1(POR):c.1239+1G>C
|
rs782168868
|
|
NM_001395413.1(POR):c.1239+1G>T
|
|
|
NM_001395413.1(POR):c.1239+2T>G
|
|
|
NM_001395413.1(POR):c.1240-11G>A
|
|
|
NM_001395413.1(POR):c.1240-11G>C
|
|
|
NM_001395413.1(POR):c.1240-12C>T
|
rs1208139617
|
|
NM_001395413.1(POR):c.1240-14C>A
|
|
|
NM_001395413.1(POR):c.1240-15C>T
|
|
|
NM_001395413.1(POR):c.1240-2A>G
|
|
|
NM_001395413.1(POR):c.1240-5C>T
|
rs2116624933
|
|
NM_001395413.1(POR):c.1240-7C>T
|
|
|
NM_001395413.1(POR):c.1245G>T (p.Leu415=)
|
|
|
NM_001395413.1(POR):c.1251G>C (p.Leu417=)
|
|
|
NM_001395413.1(POR):c.1254C>T (p.Ser418=)
|
rs1392235928
|
|
NM_001395413.1(POR):c.1287C>A (p.Ala429=)
|
|
|
NM_001395413.1(POR):c.1307C>T (p.Ser436Phe)
|
rs1789345072
|
|
NM_001395413.1(POR):c.1320C>T (p.Pro440=)
|
|
|
NM_001395413.1(POR):c.1320del (p.Ile441fs)
|
|
|
NM_001395413.1(POR):c.1320dup (p.Ile441fs)
|
rs786205875
|
|
NM_001395413.1(POR):c.1323C>T (p.Ile441=)
|
|
|
NM_001395413.1(POR):c.1337_1338dup (p.Leu447fs)
|
|
|
NM_001395413.1(POR):c.1347G>A (p.Pro449=)
|
|
|
NM_001395413.1(POR):c.1349G>A (p.Arg450His)
|
|
|
NM_001395413.1(POR):c.1353G>C (p.Leu451=)
|
|
|
NM_001395413.1(POR):c.1356G>A (p.Gln452=)
|
|
|
NM_001395413.1(POR):c.1359C>T (p.Ala453=)
|
|
|
NM_001395413.1(POR):c.1375G>C (p.Ala459Pro)
|
rs72557936
|
|
NM_001395413.1(POR):c.1380A>G (p.Ser460=)
|
|
|
NM_001395413.1(POR):c.1386C>T (p.Ser462=)
|
|
|
NM_001395413.1(POR):c.1389+12C>T
|
|
|
NM_001395413.1(POR):c.1389+18C>G
|
|
|
NM_001395413.1(POR):c.1389+19C>T
|
|
|
NM_001395413.1(POR):c.1389+1G>A
|
|
|
NM_001395413.1(POR):c.1389+1G>C
|
|
|
NM_001395413.1(POR):c.138G>C (p.Lys46Asn)
|
|
|
NM_001395413.1(POR):c.1390-12C>G
|
|
|
NM_001395413.1(POR):c.1390-15C>T
|
|
|
NM_001395413.1(POR):c.1390-4A>C
|
|
|
NM_001395413.1(POR):c.1390-5C>A
|
|
|
NM_001395413.1(POR):c.1392C>A (p.Val464=)
|
|
|
NM_001395413.1(POR):c.1395C>T (p.His465=)
|
|
|
NM_001395413.1(POR):c.1398C>T (p.Pro466=)
|
|
|
NM_001395413.1(POR):c.1405G>A (p.Val469Met)
|
rs72557946
|
|
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)
|
rs72557946
|
|
NM_001395413.1(POR):c.1406_1407del (p.Val469fs)
|
rs782395275
|
|
NM_001395413.1(POR):c.1410C>T (p.His470=)
|
|
|
NM_001395413.1(POR):c.1422G>C (p.Val474=)
|
|
|
NM_001395413.1(POR):c.1428G>A (p.Val476=)
|
|
|
NM_001395413.1(POR):c.1428G>C (p.Val476=)
|
|
|
NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter)
|
rs373613946
|
|
NM_001395413.1(POR):c.1434C>G (p.Tyr478Ter)
|
|
|
NM_001395413.1(POR):c.1434C>T (p.Tyr478=)
|
|
|
NM_001395413.1(POR):c.143AAG[2] (p.Glu50del)
|
rs72553987
|
|
NM_001395413.1(POR):c.1442_1446del (p.Lys481fs)
|
|
|
NM_001395413.1(POR):c.1446T>A (p.Ala482=)
|
|
|
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
|
|
|
NM_001395413.1(POR):c.1464C>T (p.Gly488=)
|
|
|
NM_001395413.1(POR):c.1470C>G (p.Ala490=)
|
|
|
NM_001395413.1(POR):c.1470C>T (p.Ala490=)
|
|
|
NM_001395413.1(POR):c.1482G>A (p.Leu494=)
|
rs370326231
|
|
NM_001395413.1(POR):c.1483C>T (p.Arg495Trp)
|
|
|
NM_001395413.1(POR):c.1492G>T (p.Glu498Ter)
|
|
|
NM_001395413.1(POR):c.1500C>T (p.Ala500=)
|
|
|
NM_001395413.1(POR):c.1501G>A (p.Gly501Arg)
|
|
|
NM_001395413.1(POR):c.1504G>A (p.Glu502Lys)
|
rs377159530
|
|
NM_001395413.1(POR):c.1506G>A (p.Glu502=)
|
|
|
NM_001395413.1(POR):c.1512C>G (p.Gly504=)
|
|
|
NM_001395413.1(POR):c.1513G>A (p.Gly505Ser)
|
rs547817208
|
|
NM_001395413.1(POR):c.1519_1561dup (p.Pro521fs)
|
|
|
NM_001395413.1(POR):c.1523_1542dup (p.Lys515fs)
|
|
|
NM_001395413.1(POR):c.1524G>A (p.Leu508=)
|
|
|
NM_001395413.1(POR):c.1530C>T (p.Pro510=)
|
|
|
NM_001395413.1(POR):c.1536C>T (p.Phe512=)
|
|
|
NM_001395413.1(POR):c.153C>T (p.Val51=)
|
|
|
NM_001395413.1(POR):c.1541G>A (p.Arg514His)
|
|
|
NM_001395413.1(POR):c.1541G>C (p.Arg514Pro)
|
|
|
NM_001395413.1(POR):c.1548C>T (p.Ser516=)
|
|
|
NM_001395413.1(POR):c.1562_1610dup (p.Ala538fs)
|
rs1563435458
|
|
NM_001395413.1(POR):c.1563C>T (p.Pro521=)
|
|
|
NM_001395413.1(POR):c.156C>T (p.Pro52=)
|
rs782368623
|
|
NM_001395413.1(POR):c.1572C>T (p.Ala524=)
|
|
|
NM_001395413.1(POR):c.1575C>A (p.Thr525=)
|
|
|
NM_001395413.1(POR):c.1577C>T (p.Thr526Met)
|
rs782248163
|
|
NM_001395413.1(POR):c.1584CAT[1] (p.Ile529del)
|
|
|
NM_001395413.1(POR):c.1593G>T (p.Val531=)
|
|
|
NM_001395413.1(POR):c.1599C>T (p.Pro533=)
|
|
|
NM_001395413.1(POR):c.15C>T (p.His5=)
|
|
|
NM_001395413.1(POR):c.1600G>A (p.Gly534Ser)
|
rs569673150
|
|
NM_001395413.1(POR):c.1600G>C (p.Gly534Arg)
|
rs569673150
|
|
NM_001395413.1(POR):c.1605C>T (p.Thr535=)
|
|
|
NM_001395413.1(POR):c.1613dup (p.Pro539fs)
|
|
|
NM_001395413.1(POR):c.1623A>C (p.Ile541=)
|
|
|
NM_001395413.1(POR):c.1623A>T (p.Ile541=)
|
|
|
NM_001395413.1(POR):c.1629C>T (p.Phe543=)
|
|
|
NM_001395413.1(POR):c.1631_1634del (p.Ile544fs)
|
|
|
NM_001395413.1(POR):c.1638G>A (p.Glu546=)
|
|
|
NM_001395413.1(POR):c.1647_1660+15del
|
|
|
NM_001395413.1(POR):c.1653A>G (p.Arg551=)
|
|
|
NM_001395413.1(POR):c.1660+10G>T
|
|
|
NM_001395413.1(POR):c.1660+10dup
|
|
|
NM_001395413.1(POR):c.1660+12C>A
|
|
|
NM_001395413.1(POR):c.1660+16T>C
|
|
|
NM_001395413.1(POR):c.1660+16T>G
|
|
|
NM_001395413.1(POR):c.1660+17G>A
|
|
|
NM_001395413.1(POR):c.1660+17G>C
|
|
|
NM_001395413.1(POR):c.1660+8G>C
|
|
|
NM_001395413.1(POR):c.1660+9G>A
|
rs1554559215
|
|
NM_001395413.1(POR):c.1661-10T>G
|
|
|
NM_001395413.1(POR):c.1661-13C>T
|
|
|
NM_001395413.1(POR):c.1661-19C>T
|
|
|
NM_001395413.1(POR):c.1661-2A>G
|
|
|
NM_001395413.1(POR):c.1661-5C>T
|
|
|
NM_001395413.1(POR):c.1661-7C>A
|
|
|
NM_001395413.1(POR):c.1661-7C>G
|
|
|
NM_001395413.1(POR):c.1671G>T (p.Val557=)
|
|
|
NM_001395413.1(POR):c.1674G>A (p.Gly558=)
|
|
|
NM_001395413.1(POR):c.1675dup (p.Glu559fs)
|
|
|
NM_001395413.1(POR):c.1676_1679dup (p.Leu561fs)
|
rs781914230
|
|
NM_001395413.1(POR):c.1680G>A (p.Thr560=)
|
|
|
NM_001395413.1(POR):c.1689C>T (p.Tyr563=)
|
|
|
NM_001395413.1(POR):c.1690_1691dup (p.Gly565fs)
|
|
|
NM_001395413.1(POR):c.1692C>T (p.Tyr564=)
|
|
|
NM_001395413.1(POR):c.1713G>C (p.Glu571Asp)
|
rs1414093729
|
|
NM_001395413.1(POR):c.1714G>A (p.Asp572Asn)
|
|
|
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro)
|
rs56256515
|
|
NM_001395413.1(POR):c.1722G>A (p.Leu574=)
|
rs1554559285
|
|
NM_001395413.1(POR):c.1725C>T (p.Tyr575=)
|
|
|
NM_001395413.1(POR):c.1731G>A (p.Glu577=)
|
|
|
NM_001395413.1(POR):c.1740G>A (p.Ala580=)
|
|
|
NM_001395413.1(POR):c.1752G>A (p.Arg584=)
|
|
|
NM_001395413.1(POR):c.1761G>A (p.Ala587=)
|
|
|
NM_001395413.1(POR):c.1767C>A (p.Thr589=)
|
|
|
NM_001395413.1(POR):c.1773C>T (p.Leu591=)
|
|
|
NM_001395413.1(POR):c.1776C>G (p.Asn592Lys)
|
|
|
NM_001395413.1(POR):c.1782C>T (p.Ala594=)
|
|
|
NM_001395413.1(POR):c.1785C>T (p.Phe595=)
|
|
|
NM_001395413.1(POR):c.179+10G>A
|
|
|
NM_001395413.1(POR):c.179+14C>G
|
|
|
NM_001395413.1(POR):c.179+14C>T
|
|
|
NM_001395413.1(POR):c.179+15_179+16del
|
|
|
NM_001395413.1(POR):c.179+16C>G
|
|
|
NM_001395413.1(POR):c.179+9C>T
|
|
|
NM_001395413.1(POR):c.1791G>A (p.Arg597=)
|
|
|
NM_001395413.1(POR):c.1792del (p.Glu598fs)
|
|
|
NM_001395413.1(POR):c.1795C>T (p.Gln599Ter)
|
|
|
NM_001395413.1(POR):c.180-15_180-14del
|
|
|
NM_001395413.1(POR):c.180-18C>T
|
|
|
NM_001395413.1(POR):c.180-5T>C
|
|
|
NM_001395413.1(POR):c.180-8T>C
|
|
|
NM_001395413.1(POR):c.1806+10G>T
|
|
|
NM_001395413.1(POR):c.1806+11C>T
|
|
|
NM_001395413.1(POR):c.1806+15C>A
|
|
|
NM_001395413.1(POR):c.1806+15C>G
|
|
|
NM_001395413.1(POR):c.1806+9G>C
|
|
|
NM_001395413.1(POR):c.1807-15C>T
|
|
|
NM_001395413.1(POR):c.1807-1G>A
|
|
|
NM_001395413.1(POR):c.1807-2A>C
|
|
|
NM_001395413.1(POR):c.1807-4C>T
|
|
|
NM_001395413.1(POR):c.1807-8G>C
|
|
|
NM_001395413.1(POR):c.1809C>G (p.Val603=)
|
|
|
NM_001395413.1(POR):c.1812C>T (p.Tyr604=)
|
|
|
NM_001395413.1(POR):c.1813G>A (p.Val605Ile)
|
|
|
NM_001395413.1(POR):c.1813G>T (p.Val605Phe)
|
rs72552772
|
|
NM_001395413.1(POR):c.1815C>G (p.Val605=)
|
|
|
NM_001395413.1(POR):c.1815C>T (p.Val605=)
|
|
|
NM_001395413.1(POR):c.1818G>A (p.Gln606=)
|
|
|
NM_001395413.1(POR):c.1825C>T (p.Leu609=)
|
|
|
NM_001395413.1(POR):c.1830G>A (p.Lys610=)
|
|
|
NM_001395413.1(POR):c.1840G>A (p.Glu614Lys)
|
rs771477130
|
|
NM_001395413.1(POR):c.1851G>T (p.Trp617Cys)
|
|
|
NM_001395413.1(POR):c.1855T>C (p.Leu619=)
|
|
|
NM_001395413.1(POR):c.1860C>A (p.Ile620=)
|
rs553145252
|
|
NM_001395413.1(POR):c.1860C>T (p.Ile620=)
|
|
|
NM_001395413.1(POR):c.1866C>T (p.Gly622=)
|
|
|
NM_001395413.1(POR):c.1869T>C (p.Gly623=)
|
|
|
NM_001395413.1(POR):c.186C>G (p.Ser62=)
|
|
|
NM_001395413.1(POR):c.1874A>C (p.His625Pro)
|
|
|
NM_001395413.1(POR):c.1889+14dup
|
|
|
NM_001395413.1(POR):c.1889+7G>A
|
|
|
NM_001395413.1(POR):c.1889+8A>C
|
|
|
NM_001395413.1(POR):c.1889+8_1889+11del
|
rs782708898
|
|
NM_001395413.1(POR):c.1889+9G>T
|
rs782024811
|
|
NM_001395413.1(POR):c.1890-11T>A
|
|
|
NM_001395413.1(POR):c.1890-12_1890-11del
|
|
|
NM_001395413.1(POR):c.1890-12dup
|
|
|
NM_001395413.1(POR):c.1890-13T>C
|
|
|
NM_001395413.1(POR):c.1890-14C>G
|
|
|
NM_001395413.1(POR):c.1890-17C>A
|
|
|
NM_001395413.1(POR):c.1890-19A>C
|
|
|
NM_001395413.1(POR):c.1890-20C>T
|
|
|
NM_001395413.1(POR):c.1890-6G>A
|
|
|
NM_001395413.1(POR):c.1890-8C>T
|
|
|
NM_001395413.1(POR):c.1896A>T (p.Ala632=)
|
|
|
NM_001395413.1(POR):c.1897C>A (p.Arg633=)
|
|
|
NM_001395413.1(POR):c.1923C>A (p.Asn641Lys)
|
rs781793669
|
|
NM_001395413.1(POR):c.1923C>T (p.Asn641=)
|
|
|
NM_001395413.1(POR):c.1932C>T (p.Tyr644=)
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|
|
NM_001395413.1(POR):c.1935C>T (p.Asp645=)
|
|
|
NM_001395413.1(POR):c.1938C>T (p.Ile646=)
|
|
|
NM_001395413.1(POR):c.1950C>A (p.Leu650=)
|
|
|
NM_001395413.1(POR):c.1953G>A (p.Gly651=)
|
|
|
NM_001395413.1(POR):c.1956C>T (p.Ala652=)
|
|
|
NM_001395413.1(POR):c.1965C>G (p.His655Gln)
|
rs782143954
|
|
NM_001395413.1(POR):c.1965C>T (p.His655=)
|
|
|
NM_001395413.1(POR):c.1968G>T (p.Ala656=)
|
|
|
NM_001395413.1(POR):c.1977G>A (p.Val659=)
|
|
|
NM_001395413.1(POR):c.1980C>T (p.Asp660=)
|
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|
NM_001395413.1(POR):c.1992del (p.Lys664fs)
|
|
|
NM_001395413.1(POR):c.1995G>A (p.Leu665=)
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|
NM_001395413.1(POR):c.2002A>G (p.Lys668Glu)
|
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|
NM_001395413.1(POR):c.2010C>A (p.Arg670=)
|
|
|
NM_001395413.1(POR):c.2010C>T (p.Arg670=)
|
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|
NM_001395413.1(POR):c.2022C>T (p.Asp674=)
|
|
|
NM_001395413.1(POR):c.2025G>A (p.Val675=)
|
|
|
NM_001395413.1(POR):c.2031C>T (p.Ser677=)
|
|
|
NM_001395413.1(POR):c.207T>G (p.Phe69Leu)
|
|
|
NM_001395413.1(POR):c.226A>G (p.Thr76Ala)
|
rs1788485288
|
|
NM_001395413.1(POR):c.228+14A>G
|
|
|
NM_001395413.1(POR):c.228+20T>C
|
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|
NM_001395413.1(POR):c.228+20T>G
|
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|
NM_001395413.1(POR):c.229-10C>T
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|
NM_001395413.1(POR):c.229-11G>A
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|
NM_001395413.1(POR):c.229-13C>T
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|
NM_001395413.1(POR):c.229-15G>A
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|
NM_001395413.1(POR):c.229-15_229-14del
|
|
|
NM_001395413.1(POR):c.229-16T>G
|
|
|
NM_001395413.1(POR):c.229-17G>A
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|
NM_001395413.1(POR):c.229-19C>G
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|
NM_001395413.1(POR):c.229-19C>T
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|
NM_001395413.1(POR):c.229-19_229-18del
|
|
|
NM_001395413.1(POR):c.229-1G>A
|
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|
NM_001395413.1(POR):c.229-2A>G
|
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|
NM_001395413.1(POR):c.229-3T>C
|
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|
NM_001395413.1(POR):c.229-8T>C
|
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|
NM_001395413.1(POR):c.229-9C>G
|
|
|
NM_001395413.1(POR):c.236A>T (p.Asn79Ile)
|
|
|
NM_001395413.1(POR):c.237C>T (p.Asn79=)
|
rs1585126959
|
|
NM_001395413.1(POR):c.240C>A (p.Ile80=)
|
|
|
NM_001395413.1(POR):c.243C>T (p.Ile81=)
|
|
|
NM_001395413.1(POR):c.246G>T (p.Val82=)
|
|
|
NM_001395413.1(POR):c.251dup (p.Tyr84Ter)
|
|
|
NM_001395413.1(POR):c.252C>T (p.Tyr84=)
|
|
|
NM_001395413.1(POR):c.259C>T (p.Gln87Ter)
|
|
|
NM_001395413.1(POR):c.263C>T (p.Thr88Met)
|
|
|
NM_001395413.1(POR):c.264G>A (p.Thr88=)
|
|
|
NM_001395413.1(POR):c.270T>C (p.Thr90=)
|
|
|
NM_001395413.1(POR):c.272C>T (p.Ala91Val)
|
|
|
NM_001395413.1(POR):c.285C>T (p.Ala95=)
|
rs1554557307
|
|
NM_001395413.1(POR):c.291C>A (p.Arg97=)
|
|
|
NM_001395413.1(POR):c.295T>C (p.Ser99Pro)
|
|
|
NM_001395413.1(POR):c.300G>A (p.Lys100=)
|
|
|
NM_001395413.1(POR):c.303C>T (p.Asp101=)
|
|
|
NM_001395413.1(POR):c.304G>A (p.Ala102Thr)
|
|
|
NM_001395413.1(POR):c.310C>T (p.Arg104Cys)
|
|
|
NM_001395413.1(POR):c.322C>T (p.Arg108Ter)
|
rs1181572912
|
|
NM_001395413.1(POR):c.323G>A (p.Arg108Gln)
|
|
|
NM_001395413.1(POR):c.336G>A (p.Ala112=)
|
|
|
NM_001395413.1(POR):c.33C>T (p.Thr11=)
|
|
|
NM_001395413.1(POR):c.345G>A (p.Glu115=)
|
|
|
NM_001395413.1(POR):c.348G>A (p.Glu116=)
|
|
|
NM_001395413.1(POR):c.357+13C>T
|
|
|
NM_001395413.1(POR):c.357+15C>T
|
|
|
NM_001395413.1(POR):c.357+16G>A
|
|
|
NM_001395413.1(POR):c.357+16G>T
|
rs782083860
|
|
NM_001395413.1(POR):c.357+18G>A
|
|
|
NM_001395413.1(POR):c.357+18G>C
|
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|
NM_001395413.1(POR):c.357+8G>A
|
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|
NM_001395413.1(POR):c.358-12_358-11del
|
|
|
NM_001395413.1(POR):c.358-14C>G
|
|
|
NM_001395413.1(POR):c.358-18C>G
|
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|
NM_001395413.1(POR):c.358-5T>C
|
|
|
NM_001395413.1(POR):c.358-9_358-4del
|
|
|
NM_001395413.1(POR):c.364C>T (p.Leu122=)
|
|
|
NM_001395413.1(POR):c.366G>A (p.Leu122=)
|
|
|
NM_001395413.1(POR):c.369C>G (p.Ser123Arg)
|
rs2116587581
|
|
NM_001395413.1(POR):c.36G>A (p.Val12=)
|
rs781862803
|
|
NM_001395413.1(POR):c.371G>A (p.Ser124Asn)
|
|
|
NM_001395413.1(POR):c.384C>T (p.Ile128=)
|
rs782166276
|
|
NM_001395413.1(POR):c.385G>A (p.Asp129Asn)
|
rs554865831
|
|
NM_001395413.1(POR):c.385_386dup (p.Asp129fs)
|
|
|
NM_001395413.1(POR):c.386del (p.Asp129fs)
|
|
|
NM_001395413.1(POR):c.39C>T (p.Ser13=)
|
|
|
NM_001395413.1(POR):c.408C>T (p.Cys136=)
|
|
|
NM_001395413.1(POR):c.40G>T (p.Glu14Ter)
|
|
|
NM_001395413.1(POR):c.423T>C (p.Gly141=)
|
|
|
NM_001395413.1(POR):c.426G>C (p.Glu142Asp)
|
|
|
NM_001395413.1(POR):c.447C>T (p.Ala149=)
|
|
|
NM_001395413.1(POR):c.44C>T (p.Ala15Val)
|
|
|
NM_001395413.1(POR):c.450G>A (p.Gln150=)
|
|
|
NM_001395413.1(POR):c.453C>T (p.Asp151=)
|
|
|
NM_001395413.1(POR):c.458del (p.Tyr153fs)
|
|
|
NM_001395413.1(POR):c.459C>T (p.Tyr153=)
|
|
|
NM_001395413.1(POR):c.477A>G (p.Thr159=)
|
|
|
NM_001395413.1(POR):c.480C>T (p.Asp160=)
|
|
|
NM_001395413.1(POR):c.481G>A (p.Val161Met)
|
rs200112691
|
|
NM_001395413.1(POR):c.483G>A (p.Val161=)
|
|
|
NM_001395413.1(POR):c.485A>C (p.Asp162Ala)
|
|
|
NM_001395413.1(POR):c.498C>T (p.Val166=)
|
|
|
NM_001395413.1(POR):c.504C>G (p.Phe168Leu)
|
rs372715546
|
|
NM_001395413.1(POR):c.507+15_507+16del
|
rs368249506
|
|
NM_001395413.1(POR):c.507+18T>G
|
|
|
NM_001395413.1(POR):c.507G>A (p.Ala169=)
|
|
|
NM_001395413.1(POR):c.508-13T>C
|
|
|
NM_001395413.1(POR):c.508-19G>A
|
|
|
NM_001395413.1(POR):c.508-19G>T
|
|
|
NM_001395413.1(POR):c.508-5C>T
|
|
|
NM_001395413.1(POR):c.508-7C>T
|
|
|
NM_001395413.1(POR):c.511T>A (p.Phe171Ile)
|
|
|
NM_001395413.1(POR):c.514G>A (p.Gly172Ser)
|
|
|
NM_001395413.1(POR):c.516T>C (p.Gly172=)
|
|
|
NM_001395413.1(POR):c.519T>C (p.Leu173=)
|
|
|
NM_001395413.1(POR):c.51C>G (p.Ala17=)
|
|
|
NM_001395413.1(POR):c.51C>T (p.Ala17=)
|
|
|
NM_001395413.1(POR):c.522G>C (p.Gly174=)
|
|
|
NM_001395413.1(POR):c.529A>G (p.Thr177Ala)
|
|
|
NM_001395413.1(POR):c.530C>G (p.Thr177Ser)
|
rs2116593920
|
|
NM_001395413.1(POR):c.531C>T (p.Thr177=)
|
rs782409308
|
|
NM_001395413.1(POR):c.532T>G (p.Tyr178Asp)
|
rs72552771
|
|
NM_001395413.1(POR):c.534C>T (p.Tyr178=)
|
|
|
NM_001395413.1(POR):c.540C>T (p.His180=)
|
|
|
NM_001395413.1(POR):c.546T>C (p.Asn182=)
|
|
|
NM_001395413.1(POR):c.549C>T (p.Ala183=)
|
|
|
NM_001395413.1(POR):c.552G>T (p.Met184Ile)
|
rs1554557749
|
|
NM_001395413.1(POR):c.561C>T (p.Tyr187=)
|
|
|
NM_001395413.1(POR):c.562G>A (p.Val188Met)
|
rs201513102
|
|
NM_001395413.1(POR):c.562G>C (p.Val188Leu)
|
rs201513102
|
|
NM_001395413.1(POR):c.579G>C (p.Glu193Asp)
|
|
|
NM_001395413.1(POR):c.585C>T (p.Leu195=)
|
|
|
NM_001395413.1(POR):c.588C>A (p.Gly196=)
|
|
|
NM_001395413.1(POR):c.5G>C (p.Gly2Ala)
|
|
|
NM_001395413.1(POR):c.600C>T (p.Ile200=)
|
|
|
NM_001395413.1(POR):c.604G>C (p.Glu202Gln)
|
rs1585129186
|
|
NM_001395413.1(POR):c.60A>G (p.Val20=)
|
|
|
NM_001395413.1(POR):c.612G>A (p.Gly204=)
|
|
|
NM_001395413.1(POR):c.615G>A (p.Leu205=)
|
rs782714107
|
|
NM_001395413.1(POR):c.618C>T (p.Gly206=)
|
|
|
NM_001395413.1(POR):c.621C>T (p.Asp207=)
|
|
|
NM_001395413.1(POR):c.624C>T (p.Asp208=)
|
|
|
NM_001395413.1(POR):c.625G>C (p.Asp209His)
|
rs374707345
|
|
NM_001395413.1(POR):c.632+11A>G
|
|
|
NM_001395413.1(POR):c.632+14C>A
|
|
|
NM_001395413.1(POR):c.632+15T>C
|
rs2116595459
|
|
NM_001395413.1(POR):c.632+18C>T
|
|
|
NM_001395413.1(POR):c.632+7G>A
|
|
|
NM_001395413.1(POR):c.633-12T>C
|
|
|
NM_001395413.1(POR):c.633-14T>G
|
|
|
NM_001395413.1(POR):c.633-16C>G
|
|
|
NM_001395413.1(POR):c.633-20C>A
|
|
|
NM_001395413.1(POR):c.633-20C>G
|
rs368640263
|
|
NM_001395413.1(POR):c.633-20C>T
|
|
|
NM_001395413.1(POR):c.633-7G>C
|
|
|
NM_001395413.1(POR):c.636GGA[2] (p.Glu214del)
|
rs782434696
|
|
NM_001395413.1(POR):c.646T>G (p.Phe216Val)
|
rs1789043381
|
|
NM_001395413.1(POR):c.64_65del (p.Leu22fs)
|
|
|
NM_001395413.1(POR):c.651C>T (p.Ile217=)
|
|
|
NM_001395413.1(POR):c.658C>A (p.Arg220=)
|
|
|
NM_001395413.1(POR):c.658C>T (p.Arg220Ter)
|
|
|
NM_001395413.1(POR):c.681G>T (p.Val227=)
|
|
|
NM_001395413.1(POR):c.697del (p.Val233fs)
|
|
|
NM_001395413.1(POR):c.711C>G (p.Gly237=)
|
|
|
NM_001395413.1(POR):c.722+10T>C
|
|
|
NM_001395413.1(POR):c.722+14C>T
|
|
|
NM_001395413.1(POR):c.722+15G>A
|
|
|
NM_001395413.1(POR):c.722+15G>T
|
|
|
NM_001395413.1(POR):c.722+17A>G
|
|
|
NM_001395413.1(POR):c.722+18G>A
|
|
|
NM_001395413.1(POR):c.722+8A>C
|
|
|
NM_001395413.1(POR):c.723-11C>G
|
|
|
NM_001395413.1(POR):c.723-11C>T
|
|
|
NM_001395413.1(POR):c.723-15dup
|
|
|
NM_001395413.1(POR):c.723-16G>C
|
|
|
NM_001395413.1(POR):c.723-7T>G
|
|
|
NM_001395413.1(POR):c.723-9C>T
|
|
|
NM_001395413.1(POR):c.735C>G (p.Tyr245Ter)
|
|
|
NM_001395413.1(POR):c.738G>A (p.Glu246=)
|
|
|
NM_001395413.1(POR):c.753C>G (p.Thr251=)
|
|
|
NM_001395413.1(POR):c.753C>T (p.Thr251=)
|
|
|
NM_001395413.1(POR):c.765G>A (p.Ala255=)
|
|
|
NM_001395413.1(POR):c.765G>C (p.Ala255=)
|
|
|
NM_001395413.1(POR):c.768C>T (p.Ala256=)
|
|
|
NM_001395413.1(POR):c.768del (p.Lys257fs)
|
|
|
NM_001395413.1(POR):c.771G>A (p.Lys257=)
|
|
|
NM_001395413.1(POR):c.774G>T (p.Val258=)
|
|
|
NM_001395413.1(POR):c.779T>G (p.Met260Arg)
|
|
|
NM_001395413.1(POR):c.77C>T (p.Thr26Met)
|
|
|
NM_001395413.1(POR):c.784G>T (p.Glu262Ter)
|
|
|
NM_001395413.1(POR):c.793C>A (p.Arg265=)
|
|
|
NM_001395413.1(POR):c.798G>T (p.Leu266=)
|
|
|
NM_001395413.1(POR):c.804C>A (p.Ser268Arg)
|
rs201598971
|
|
NM_001395413.1(POR):c.804C>T (p.Ser268=)
|
rs201598971
|
|
NM_001395413.1(POR):c.807C>T (p.Tyr269=)
|
|
|
NM_001395413.1(POR):c.808G>A (p.Glu270Lys)
|
|
|
NM_001395413.1(POR):c.810G>A (p.Glu270=)
|
|
|
NM_001395413.1(POR):c.813C>T (p.Asn271=)
|
|
|
NM_001395413.1(POR):c.815A>G (p.Gln272Arg)
|
rs201697814
|
|
NM_001395413.1(POR):c.821+10G>C
|
|
|
NM_001395413.1(POR):c.821+13del
|
|
|
NM_001395413.1(POR):c.821+16G>A
|
|
|
NM_001395413.1(POR):c.821+17T>C
|
|
|
NM_001395413.1(POR):c.821+18G>T
|
|
|
NM_001395413.1(POR):c.821+1G>A
|
|
|
NM_001395413.1(POR):c.821+20C>T
|
|
|
NM_001395413.1(POR):c.821+2_821+3del
|
|
|
NM_001395413.1(POR):c.821+9A>G
|
|
|
NM_001395413.1(POR):c.821+9_821+24del
|
|
|
NM_001395413.1(POR):c.87T>C (p.Ile29=)
|
|
|
NM_001395413.1(POR):c.96G>A (p.Ser32=)
|
|
|