NM_144573.4(NEXN):c.219+25G>A
|
rs1749913
|
0.80761
|
NM_144573.4(NEXN):c.864+290C>T
|
rs1166699
|
0.70342
|
NM_144573.4(NEXN):c.1251+43C>G
|
rs4483454
|
0.70295
|
NM_144573.4(NEXN):c.733G>A (p.Gly245Arg)
|
rs1166698
|
0.15380
|
NM_144573.4(NEXN):c.*22C>G
|
rs3767028
|
0.10567
|
NM_144573.4(NEXN):c.1251+48T>C
|
rs41312654
|
0.09791
|
NM_144573.4(NEXN):c.1474-198dup
|
rs150690072
|
0.09787
|
NM_144573.4(NEXN):c.1252-301T>C
|
rs17101082
|
0.08559
|
NM_144573.4(NEXN):c.864+294A>G
|
rs115465149
|
0.04791
|
NM_144573.4(NEXN):c.27+220A>C
|
rs74092331
|
0.04619
|
NM_144573.4(NEXN):c.489+207C>T
|
rs41305872
|
0.04062
|
NM_144573.4(NEXN):c.489+106T>C
|
rs76684082
|
0.02873
|
NM_144573.4(NEXN):c.864+231A>G
|
rs111357417
|
0.02428
|
NM_144573.4(NEXN):c.1053+128T>C
|
rs74092336
|
0.01854
|
NM_144573.4(NEXN):c.27+200T>C
|
rs115693312
|
0.01669
|
NM_144573.4(NEXN):c.-53+36T>G
|
rs147230680
|
0.01537
|
NM_144573.4(NEXN):c.1252-241T>C
|
rs61778875
|
0.01354
|
NM_144573.4(NEXN):c.*279G>A
|
rs11558429
|
0.01003
|
NM_144573.4(NEXN):c.1054-206G>A
|
rs188107734
|
0.00610
|
NM_144573.4(NEXN):c.*314A>C
|
rs78105746
|
0.00609
|
NM_144573.4(NEXN):c.1408G>C (p.Glu470Gln)
|
rs35366555
|
0.00302
|
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)
|
rs201763096
|
0.00262
|
NM_144573.4(NEXN):c.*414A>C
|
rs1359518
|
0.00237
|
NM_144573.4(NEXN):c.1659+18C>G
|
rs147422621
|
0.00228
|
NM_144573.4(NEXN):c.864+12T>A
|
rs188416492
|
0.00141
|
NM_144573.4(NEXN):c.156C>T (p.Asp52=)
|
rs371431782
|
0.00128
|
NM_144573.4(NEXN):c.1618A>G (p.Met540Val)
|
rs201390657
|
0.00113
|
NM_144573.4(NEXN):c.1252-10T>G
|
rs201019553
|
0.00088
|
NM_144573.4(NEXN):c.777A>G (p.Gln259=)
|
rs375544798
|
0.00077
|
NM_144573.4(NEXN):c.-52-16T>C
|
rs557864364
|
0.00047
|
NM_144573.4(NEXN):c.732C>A (p.Pro244=)
|
rs201171783
|
0.00045
|
NM_144573.4(NEXN):c.1785C>T (p.Asp595=)
|
rs182998780
|
0.00041
|
NM_144573.4(NEXN):c.512T>C (p.Ile171Thr)
|
rs372065024
|
0.00035
|
NM_144573.4(NEXN):c.613G>A (p.Glu205Lys)
|
rs201447781
|
0.00034
|
NM_144573.4(NEXN):c.-58T>C
|
rs587781100
|
0.00030
|
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)
|
rs199738750
|
0.00029
|
NM_144573.4(NEXN):c.242A>T (p.Asp81Val)
|
rs367871780
|
0.00028
|
NM_144573.4(NEXN):c.864+43T>G
|
rs77342708
|
0.00026
|
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)
|
rs146245480
|
0.00025
|
NM_144573.4(NEXN):c.1029G>A (p.Ala343=)
|
rs374260457
|
0.00023
|
NM_144573.4(NEXN):c.1252-11T>G
|
rs781115798
|
0.00017
|
NM_144573.4(NEXN):c.865-17A>G
|
rs201771600
|
0.00016
|
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)
|
rs200753280
|
0.00016
|
NM_144573.4(NEXN):c.1806G>A (p.Thr602=)
|
rs373102543
|
0.00014
|
NM_144573.4(NEXN):c.1042A>C (p.Arg348=)
|
rs752036618
|
0.00011
|
NM_144573.4(NEXN):c.1582G>C (p.Glu528Gln)
|
rs200071700
|
0.00011
|
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00011
|
NM_144573.4(NEXN):c.688-10G>A
|
rs370574269
|
0.00011
|
NM_144573.4(NEXN):c.902T>A (p.Ile301Asn)
|
rs373878384
|
0.00011
|
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe)
|
rs181520023
|
0.00009
|
NM_144573.4(NEXN):c.856C>T (p.Arg286Trp)
|
rs199917913
|
0.00009
|
NM_144573.4(NEXN):c.949A>C (p.Met317Leu)
|
rs559464457
|
0.00009
|
NM_144573.4(NEXN):c.1488T>C (p.Asp496=)
|
rs754485056
|
0.00008
|
NM_144573.4(NEXN):c.78T>C (p.Leu26=)
|
rs376535223
|
0.00008
|
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln)
|
rs201806320
|
0.00007
|
NM_144573.4(NEXN):c.157G>A (p.Glu53Lys)
|
rs373778361
|
0.00007
|
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala)
|
rs374000722
|
0.00007
|
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)
|
rs369486891
|
0.00007
|
NM_144573.4(NEXN):c.865-9T>C
|
rs182083204
|
0.00007
|
NM_144573.4(NEXN):c.1189C>T (p.Arg397Trp)
|
rs754281087
|
0.00006
|
NM_144573.4(NEXN):c.1422G>A (p.Arg474=)
|
rs775204901
|
0.00006
|
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)
|
rs368812830
|
0.00006
|
NM_144573.4(NEXN):c.1957A>G (p.Met653Val)
|
rs765745920
|
0.00006
|
NM_144573.4(NEXN):c.2012T>C (p.Ile671Thr)
|
rs747781785
|
0.00006
|
NM_144573.4(NEXN):c.250G>A (p.Glu84Lys)
|
rs547319928
|
0.00006
|
NM_144573.4(NEXN):c.687+4A>T
|
rs754061340
|
0.00006
|
NM_144573.4(NEXN):c.1088C>G (p.Thr363Arg)
|
rs748351352
|
0.00005
|
NM_144573.4(NEXN):c.222T>C (p.Ile74=)
|
rs767610015
|
0.00005
|
NM_144573.4(NEXN):c.865-5G>A
|
rs727505353
|
0.00005
|
NM_144573.4(NEXN):c.1010T>C (p.Ile337Thr)
|
rs749553777
|
0.00004
|
NM_144573.4(NEXN):c.1065T>C (p.Asp355=)
|
rs369897647
|
0.00004
|
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter)
|
rs750076188
|
0.00004
|
NM_144573.4(NEXN):c.1252-20C>A
|
rs776869661
|
0.00004
|
NM_144573.4(NEXN):c.1450C>A (p.Arg484=)
|
rs767792289
|
0.00004
|
NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln)
|
rs373057251
|
0.00004
|
NM_144573.4(NEXN):c.1529A>G (p.Lys510Arg)
|
rs759726867
|
0.00004
|
NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr)
|
rs754656961
|
0.00004
|
NM_144573.4(NEXN):c.175G>A (p.Glu59Lys)
|
rs761888910
|
0.00004
|
NM_144573.4(NEXN):c.1892T>C (p.Ile631Thr)
|
rs775292649
|
0.00004
|
NM_144573.4(NEXN):c.1994G>T (p.Ser665Ile)
|
rs777703689
|
0.00004
|
NM_144573.4(NEXN):c.249G>A (p.Glu83=)
|
rs372532824
|
0.00004
|
NM_144573.4(NEXN):c.739T>C (p.Leu247=)
|
rs781118443
|
0.00004
|
NM_144573.4(NEXN):c.818G>A (p.Arg273His)
|
rs765385072
|
0.00004
|
NM_144573.4(NEXN):c.836G>A (p.Arg279His)
|
rs750349053
|
0.00004
|
NM_144573.4(NEXN):c.967G>A (p.Glu323Lys)
|
rs1196365963
|
0.00004
|
NM_144573.4(NEXN):c.1053+1G>A
|
rs397517843
|
0.00003
|
NM_144573.4(NEXN):c.1662A>G (p.Lys554=)
|
rs752270974
|
0.00003
|
NM_144573.4(NEXN):c.1733G>C (p.Arg578Thr)
|
rs374878979
|
0.00003
|
NM_144573.4(NEXN):c.1894G>C (p.Glu632Gln)
|
rs370965740
|
0.00003
|
NM_144573.4(NEXN):c.1997C>A (p.Thr666Asn)
|
rs749271412
|
0.00003
|
NM_144573.4(NEXN):c.216G>A (p.Gln72=)
|
rs531315786
|
0.00003
|
NM_144573.4(NEXN):c.468G>A (p.Thr156=)
|
rs199988442
|
0.00003
|
NM_144573.4(NEXN):c.634T>A (p.Tyr212Asn)
|
rs769549962
|
0.00003
|
NM_144573.4(NEXN):c.817C>T (p.Arg273Cys)
|
rs757571525
|
0.00003
|
NM_144573.4(NEXN):c.857G>A (p.Arg286Gln)
|
rs910594117
|
0.00003
|
NM_144573.4(NEXN):c.914A>G (p.Tyr305Cys)
|
rs541547470
|
0.00003
|
NM_144573.4(NEXN):c.-10T>C
|
rs727505219
|
0.00002
|
NM_144573.4(NEXN):c.1046G>C (p.Arg349Thr)
|
rs898035834
|
0.00002
|
NM_144573.4(NEXN):c.1368A>C (p.Gly456=)
|
rs397517845
|
0.00002
|
NM_144573.4(NEXN):c.1400T>C (p.Ile467Thr)
|
rs370195451
|
0.00002
|
NM_144573.4(NEXN):c.1615C>T (p.Arg539Cys)
|
rs373680705
|
0.00002
|
NM_144573.4(NEXN):c.1651C>T (p.Leu551=)
|
rs1346328853
|
0.00002
|
NM_144573.4(NEXN):c.1A>C (p.Met1Leu)
|
rs749167943
|
0.00002
|
NM_144573.4(NEXN):c.2021A>C (p.Lys674Thr)
|
rs886046535
|
0.00002
|
NM_144573.4(NEXN):c.507A>G (p.Leu169=)
|
rs776106290
|
0.00002
|
NM_144573.4(NEXN):c.783C>G (p.Asn261Lys)
|
rs368545006
|
0.00002
|
NM_144573.4(NEXN):c.871G>A (p.Glu291Lys)
|
rs770120245
|
0.00002
|
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn)
|
rs373377525
|
0.00002
|
NM_144573.4(NEXN):c.1066G>C (p.Asp356His)
|
rs1257882038
|
0.00001
|
NM_144573.4(NEXN):c.1072C>T (p.Pro358Ser)
|
rs998636692
|
0.00001
|
NM_144573.4(NEXN):c.1083T>C (p.Tyr361=)
|
rs1060504549
|
0.00001
|
NM_144573.4(NEXN):c.112A>C (p.Met38Leu)
|
rs770360181
|
0.00001
|
NM_144573.4(NEXN):c.1171C>T (p.Arg391Ter)
|
rs200106758
|
0.00001
|
NM_144573.4(NEXN):c.1222T>C (p.Phe408Leu)
|
rs794729083
|
0.00001
|
NM_144573.4(NEXN):c.1226A>C (p.Glu409Ala)
|
rs781371108
|
0.00001
|
NM_144573.4(NEXN):c.1234A>G (p.Arg412Gly)
|
rs768693715
|
0.00001
|
NM_144573.4(NEXN):c.1244T>C (p.Met415Thr)
|
rs1172366391
|
0.00001
|
NM_144573.4(NEXN):c.1251+10T>C
|
rs1397556067
|
0.00001
|
NM_144573.4(NEXN):c.1252-13A>C
|
rs372603998
|
0.00001
|
NM_144573.4(NEXN):c.1252-16T>C
|
rs915475936
|
0.00001
|
NM_144573.4(NEXN):c.1266T>C (p.Asn422=)
|
rs1200707526
|
0.00001
|
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile)
|
rs200442502
|
0.00001
|
NM_144573.4(NEXN):c.1302del (p.Ile435fs)
|
rs747902604
|
0.00001
|
NM_144573.4(NEXN):c.1332A>G (p.Gln444=)
|
rs1385609119
|
0.00001
|
NM_144573.4(NEXN):c.135A>G (p.Arg45=)
|
rs1210596763
|
0.00001
|
NM_144573.4(NEXN):c.1364T>C (p.Ile455Thr)
|
rs1338886488
|
0.00001
|
NM_144573.4(NEXN):c.1366G>A (p.Gly456Arg)
|
rs397517844
|
0.00001
|
NM_144573.4(NEXN):c.1401A>T (p.Ile467=)
|
rs1571157558
|
0.00001
|
NM_144573.4(NEXN):c.1411C>T (p.Arg471Ter)
|
rs777418673
|
0.00001
|
NM_144573.4(NEXN):c.1413A>G (p.Arg471=)
|
rs780858511
|
0.00001
|
NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly)
|
rs539665448
|
0.00001
|
NM_144573.4(NEXN):c.1419A>G (p.Arg473=)
|
rs140900323
|
0.00001
|
NM_144573.4(NEXN):c.141A>G (p.Gln47=)
|
rs1459232585
|
0.00001
|
NM_144573.4(NEXN):c.1430T>C (p.Ile477Thr)
|
rs727504658
|
0.00001
|
NM_144573.4(NEXN):c.1432G>A (p.Asp478Asn)
|
rs1309129145
|
0.00001
|
NM_144573.4(NEXN):c.1469A>G (p.His490Arg)
|
rs753979244
|
0.00001
|
NM_144573.4(NEXN):c.1473+15T>C
|
rs757028785
|
0.00001
|
NM_144573.4(NEXN):c.1474-10T>C
|
rs374541562
|
0.00001
|
NM_144573.4(NEXN):c.1489G>A (p.Val497Ile)
|
rs778330292
|
0.00001
|
NM_144573.4(NEXN):c.1498G>T (p.Ala500Ser)
|
rs1193200803
|
0.00001
|
NM_144573.4(NEXN):c.1508G>A (p.Ser503Asn)
|
rs1368415456
|
0.00001
|
NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu)
|
rs727504758
|
0.00001
|
NM_144573.4(NEXN):c.1605A>G (p.Gln535=)
|
rs778477679
|
0.00001
|
NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs)
|
rs779350415
|
0.00001
|
NM_144573.4(NEXN):c.1619T>C (p.Met540Thr)
|
rs531641059
|
0.00001
|
NM_144573.4(NEXN):c.1640T>C (p.Ile547Thr)
|
rs753636624
|
0.00001
|
NM_144573.4(NEXN):c.1642G>A (p.Asp548Asn)
|
rs1404772841
|
0.00001
|
NM_144573.4(NEXN):c.1653A>G (p.Leu551=)
|
rs794727078
|
0.00001
|
NM_144573.4(NEXN):c.1659+5C>T
|
rs575910839
|
0.00001
|
NM_144573.4(NEXN):c.1664_1666del (p.Arg555_Glu556delinsLys)
|
rs1221963637
|
0.00001
|
NM_144573.4(NEXN):c.1683A>G (p.Glu561=)
|
rs1403473507
|
0.00001
|
NM_144573.4(NEXN):c.1687G>T (p.Gly563Cys)
|
rs1060499571
|
0.00001
|
NM_144573.4(NEXN):c.1695C>G (p.Ile565Met)
|
rs1167613126
|
0.00001
|
NM_144573.4(NEXN):c.1704C>T (p.Gly568=)
|
rs397517850
|
0.00001
|
NM_144573.4(NEXN):c.1720G>A (p.Glu574Lys)
|
rs756408591
|
0.00001
|
NM_144573.4(NEXN):c.1724A>G (p.Glu575Gly)
|
rs1169540111
|
0.00001
|
NM_144573.4(NEXN):c.1731C>G (p.Thr577=)
|
rs371743669
|
0.00001
|
NM_144573.4(NEXN):c.1739G>A (p.Gly580Glu)
|
rs560530481
|
0.00001
|
NM_144573.4(NEXN):c.1743T>G (p.Ala581=)
|
rs772313224
|
0.00001
|
NM_144573.4(NEXN):c.1747T>C (p.Trp583Arg)
|
rs1223656449
|
0.00001
|
NM_144573.4(NEXN):c.1771A>G (p.Thr591Ala)
|
rs369019618
|
0.00001
|
NM_144573.4(NEXN):c.1784A>G (p.Asp595Gly)
|
rs1131691984
|
0.00001
|
NM_144573.4(NEXN):c.1805C>T (p.Thr602Met)
|
rs756709134
|
0.00001
|
NM_144573.4(NEXN):c.1810A>G (p.Lys604Glu)
|
rs1441395532
|
0.00001
|
NM_144573.4(NEXN):c.1859A>G (p.Glu620Gly)
|
rs748404504
|
0.00001
|
NM_144573.4(NEXN):c.185T>A (p.Ile62Asn)
|
rs755012232
|
0.00001
|
NM_144573.4(NEXN):c.1889A>G (p.Tyr630Cys)
|
rs769713624
|
0.00001
|
NM_144573.4(NEXN):c.1899G>A (p.Arg633=)
|
rs374467054
|
0.00001
|
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg)
|
rs876657929
|
0.00001
|
NM_144573.4(NEXN):c.1995T>C (p.Ser665=)
|
rs757311272
|
0.00001
|
NM_144573.4(NEXN):c.2000G>A (p.Cys667Tyr)
|
rs794729087
|
0.00001
|
NM_144573.4(NEXN):c.2005C>T (p.Leu669Phe)
|
rs774194309
|
0.00001
|
NM_144573.4(NEXN):c.2014G>A (p.Glu672Lys)
|
rs771695320
|
0.00001
|
NM_144573.4(NEXN):c.2019T>A (p.Ser673Arg)
|
rs539689450
|
0.00001
|
NM_144573.4(NEXN):c.207G>A (p.Arg69=)
|
rs1414407444
|
0.00001
|
NM_144573.4(NEXN):c.219+5T>G
|
rs1414299806
|
0.00001
|
NM_144573.4(NEXN):c.220-6A>G
|
rs374762720
|
0.00001
|
NM_144573.4(NEXN):c.237T>C (p.Ala79=)
|
rs727504549
|
0.00001
|
NM_144573.4(NEXN):c.448-10C>T
|
rs773027207
|
0.00001
|
NM_144573.4(NEXN):c.456C>T (p.Asp152=)
|
rs760312569
|
0.00001
|
NM_144573.4(NEXN):c.530A>T (p.Lys177Ile)
|
rs1234811320
|
0.00001
|
NM_144573.4(NEXN):c.542C>T (p.Thr181Ile)
|
rs764640427
|
0.00001
|
NM_144573.4(NEXN):c.579A>G (p.Glu193=)
|
rs1476054611
|
0.00001
|
NM_144573.4(NEXN):c.620A>G (p.Asp207Gly)
|
rs570946423
|
0.00001
|
NM_144573.4(NEXN):c.626G>T (p.Arg209Ile)
|
rs1433269866
|
0.00001
|
NM_144573.4(NEXN):c.64T>A (p.Tyr22Asn)
|
rs1553236590
|
0.00001
|
NM_144573.4(NEXN):c.65A>G (p.Tyr22Cys)
|
rs1057518512
|
0.00001
|
NM_144573.4(NEXN):c.669G>A (p.Lys223=)
|
rs767747207
|
0.00001
|
NM_144573.4(NEXN):c.66T>C (p.Tyr22=)
|
rs749182975
|
0.00001
|
NM_144573.4(NEXN):c.671G>A (p.Cys224Tyr)
|
rs886046534
|
0.00001
|
NM_144573.4(NEXN):c.67G>A (p.Val23Ile)
|
rs571729575
|
0.00001
|
NM_144573.4(NEXN):c.680T>C (p.Leu227Ser)
|
rs756273801
|
0.00001
|
NM_144573.4(NEXN):c.688-1G>C
|
rs761030548
|
0.00001
|
NM_144573.4(NEXN):c.711A>C (p.Ala237=)
|
rs754009978
|
0.00001
|
NM_144573.4(NEXN):c.767G>A (p.Arg256Gln)
|
rs748921688
|
0.00001
|
NM_144573.4(NEXN):c.772A>G (p.Arg258Gly)
|
rs1308264799
|
0.00001
|
NM_144573.4(NEXN):c.797C>G (p.Ala266Gly)
|
rs1442572797
|
0.00001
|
NM_144573.4(NEXN):c.799G>T (p.Glu267Ter)
|
rs771262904
|
0.00001
|
NM_144573.4(NEXN):c.906T>A (p.Phe302Leu)
|
rs767740199
|
0.00001
|
NM_144573.4(NEXN):c.916C>T (p.Arg306Cys)
|
rs765051104
|
0.00001
|
NM_144573.4(NEXN):c.917G>A (p.Arg306His)
|
rs758055856
|
0.00001
|
NM_144573.4(NEXN):c.987A>C (p.Ala329=)
|
rs1270187994
|
0.00001
|
NM_144573.4(NEXN):c.991G>T (p.Glu331Ter)
|
rs533331740
|
0.00001
|
NC_000001.10:g.(?_78381662)_(78408524_?)dup
|
|
|
NC_000001.10:g.(?_78398947)_(78401749_?)del
|
|
|
NC_000001.11:g.(?_77933272)_(77936054_?)dup
|
|
|
NC_000001.11:g.77926856_77926858del
|
|
|
NM_144573.3(NEXN):c.2026_*1del
|
rs794729094
|
|
NM_144573.3:c.1216_1217insALU
|
|
|
NM_144573.4(NEXN):c.*418del
|
rs368295679
|
|
NM_144573.4(NEXN):c.*418dup
|
rs368295679
|
|
NM_144573.4(NEXN):c.*4CT[1]
|
rs553696163
|
|
NM_144573.4(NEXN):c.-1C>T
|
|
|
NM_144573.4(NEXN):c.-34C>A
|
rs758434911
|
|
NM_144573.4(NEXN):c.-43T>A
|
rs765499984
|
|
NM_144573.4(NEXN):c.-52-4del
|
rs972673849
|
|
NM_144573.4(NEXN):c.1002_1004del (p.Arg336del)
|
rs794729090
|
|
NM_144573.4(NEXN):c.1004G>A (p.Arg335Lys)
|
|
|
NM_144573.4(NEXN):c.1012G>C (p.Glu338Gln)
|
|
|
NM_144573.4(NEXN):c.1014G>C (p.Glu338Asp)
|
|
|
NM_144573.4(NEXN):c.1015G>A (p.Glu339Lys)
|
|
|
NM_144573.4(NEXN):c.1021AAG[1] (p.Lys342del)
|
|
|
NM_144573.4(NEXN):c.1024A>G (p.Lys342Glu)
|
|
|
NM_144573.4(NEXN):c.1025A>C (p.Lys342Thr)
|
|
|
NM_144573.4(NEXN):c.1028C>T (p.Ala343Val)
|
rs769073940
|
|
NM_144573.4(NEXN):c.1030T>G (p.Phe344Val)
|
|
|
NM_144573.4(NEXN):c.103T>G (p.Phe35Val)
|
|
|
NM_144573.4(NEXN):c.1049A>G (p.Asn350Ser)
|
|
|
NM_144573.4(NEXN):c.104T>C (p.Phe35Ser)
|
|
|
NM_144573.4(NEXN):c.1051A>G (p.Met351Val)
|
|
|
NM_144573.4(NEXN):c.1055T>C (p.Val352Ala)
|
rs1040085867
|
|
NM_144573.4(NEXN):c.1057G>A (p.Val353Ile)
|
rs982964498
|
|
NM_144573.4(NEXN):c.1063G>C (p.Asp355His)
|
rs1553239999
|
|
NM_144573.4(NEXN):c.1064A>G (p.Asp355Gly)
|
|
|
NM_144573.4(NEXN):c.106G>A (p.Glu36Lys)
|
|
|
NM_144573.4(NEXN):c.1070C>T (p.Ser357Phe)
|
|
|
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu)
|
rs755252743
|
|
NM_144573.4(NEXN):c.1084A>C (p.Lys362Gln)
|
|
|
NM_144573.4(NEXN):c.1084A>T (p.Lys362Ter)
|
|
|
NM_144573.4(NEXN):c.1088C>T (p.Thr363Ile)
|
|
|
NM_144573.4(NEXN):c.1089A>C (p.Thr363=)
|
rs878855209
|
|
NM_144573.4(NEXN):c.108A>G (p.Glu36=)
|
|
|
NM_144573.4(NEXN):c.1094C>G (p.Ser365Cys)
|
rs772491358
|
|
NM_144573.4(NEXN):c.1108A>G (p.Thr370Ala)
|
rs1557988169
|
|
NM_144573.4(NEXN):c.1111C>A (p.Pro371Thr)
|
rs1223883098
|
|
NM_144573.4(NEXN):c.1112C>A (p.Pro371Gln)
|
|
|
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)
|
rs200067011
|
|
NM_144573.4(NEXN):c.1113G>A (p.Pro371=)
|
|
|
NM_144573.4(NEXN):c.1121T>G (p.Leu374Arg)
|
|
|
NM_144573.4(NEXN):c.1123G>T (p.Glu375Ter)
|
rs1571150562
|
|
NM_144573.4(NEXN):c.1137A>G (p.Glu379=)
|
rs1553240026
|
|
NM_144573.4(NEXN):c.1140A>G (p.Glu380=)
|
|
|
NM_144573.4(NEXN):c.1143A>T (p.Leu381Phe)
|
rs2102146601
|
|
NM_144573.4(NEXN):c.1144T>C (p.Leu382=)
|
|
|
NM_144573.4(NEXN):c.1162G>A (p.Glu388Lys)
|
|
|
NM_144573.4(NEXN):c.1169A>C (p.Lys390Thr)
|
|
|
NM_144573.4(NEXN):c.1170del (p.Lys390fs)
|
|
|
NM_144573.4(NEXN):c.1175G>A (p.Arg392Gln)
|
rs971313210
|
|
NM_144573.4(NEXN):c.1175G>C (p.Arg392Pro)
|
rs971313210
|
|
NM_144573.4(NEXN):c.1175G>T (p.Arg392Leu)
|
|
|
NM_144573.4(NEXN):c.1179A>C (p.Thr393=)
|
rs1650467406
|
|
NM_144573.4(NEXN):c.1181_1182del (p.Glu394fs)
|
rs727504874
|
|
NM_144573.4(NEXN):c.1182G>A (p.Glu394=)
|
|
|
NM_144573.4(NEXN):c.1186G>A (p.Glu396Lys)
|
|
|
NM_144573.4(NEXN):c.1192A>C (p.Lys398Gln)
|
rs2102146863
|
|
NM_144573.4(NEXN):c.1195C>A (p.His399Asn)
|
rs779417583
|
|
NM_144573.4(NEXN):c.1200G>A (p.Lys400=)
|
|
|
NM_144573.4(NEXN):c.1201C>G (p.Leu401Val)
|
|
|
NM_144573.4(NEXN):c.1202T>C (p.Leu401Pro)
|
|
|
NM_144573.4(NEXN):c.1228C>T (p.Gln410Ter)
|
rs1557988499
|
|
NM_144573.4(NEXN):c.1231C>T (p.Leu411=)
|
|
|
NM_144573.4(NEXN):c.1232T>A (p.Leu411Gln)
|
rs2102147101
|
|
NM_144573.4(NEXN):c.1233_1234insGCCGGGCCCGGTGGCTCACGCCTGTAATCCCAGCACATTGGGAGGCCGAGACTGGAGGATCACGAGTTCAGGAGATCGATACCATACANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTGAACAACTG (p.Arg412delinsAlaGlyProGlyGlySerArgLeuTer)
|
rs2102146999
|
|
NM_144573.4(NEXN):c.1238A>G (p.Gln413Arg)
|
rs1650473441
|
|
NM_144573.4(NEXN):c.1242A>C (p.Glu414Asp)
|
|
|
NM_144573.4(NEXN):c.1249G>A (p.Glu417Lys)
|
|
|
NM_144573.4(NEXN):c.1251+1G>A
|
rs1650474978
|
|
NM_144573.4(NEXN):c.1251+1del
|
rs2102147202
|
|
NM_144573.4(NEXN):c.1252-12T>A
|
rs1400355724
|
|
NM_144573.4(NEXN):c.1252-14_1252-11del
|
rs935328552
|
|
NM_144573.4(NEXN):c.1252-16_1252-12delinsA
|
rs1064796194
|
|
NM_144573.4(NEXN):c.1252-19_1252-18del
|
|
|
NM_144573.4(NEXN):c.1252-1G>A
|
rs1650708891
|
|
NM_144573.4(NEXN):c.1252-5del
|
rs768326968
|
|
NM_144573.4(NEXN):c.1252-5dup
|
rs768326968
|
|
NM_144573.4(NEXN):c.1252-6T>C
|
rs1571156994
|
|
NM_144573.4(NEXN):c.1257G>A (p.Glu419=)
|
rs1557990801
|
|
NM_144573.4(NEXN):c.125G>A (p.Arg42Lys)
|
|
|
NM_144573.4(NEXN):c.1271C>A (p.Thr424Asn)
|
|
|
NM_144573.4(NEXN):c.1275T>C (p.Phe425=)
|
rs759257757
|
|
NM_144573.4(NEXN):c.1292_1293del (p.Glu430_Tyr431insTer)
|
|
|
NM_144573.4(NEXN):c.1316G>A (p.Arg439Lys)
|
|
|
NM_144573.4(NEXN):c.1321G>T (p.Gly441Cys)
|
rs1650716200
|
|
NM_144573.4(NEXN):c.1322G>A (p.Gly441Asp)
|
rs2102155386
|
|
NM_144573.4(NEXN):c.133A>C (p.Arg45=)
|
rs2102092028
|
|
NM_144573.4(NEXN):c.1342C>T (p.Leu448=)
|
|
|
NM_144573.4(NEXN):c.1348dup (p.Ser450fs)
|
rs1553240600
|
|
NM_144573.4(NEXN):c.134G>T (p.Arg45Ile)
|
rs946271161
|
|
NM_144573.4(NEXN):c.1368A>G (p.Gly456=)
|
rs397517845
|
|
NM_144573.4(NEXN):c.1372T>C (p.Leu458=)
|
rs1356476468
|
|
NM_144573.4(NEXN):c.1374G>T (p.Leu458Phe)
|
|
|
NM_144573.4(NEXN):c.1377T>A (p.Ser459=)
|
rs2102155734
|
|
NM_144573.4(NEXN):c.137del (p.Asn46fs)
|
rs2102092061
|
|
NM_144573.4(NEXN):c.1383A>G (p.Lys461=)
|
|
|
NM_144573.4(NEXN):c.1384_1387del (p.Glu462fs)
|
rs2102155747
|
|
NM_144573.4(NEXN):c.1385A>T (p.Glu462Val)
|
|
|
NM_144573.4(NEXN):c.1390C>T (p.Gln464Ter)
|
|
|
NM_144573.4(NEXN):c.1399dup (p.Ile467fs)
|
rs1365488625
|
|
NM_144573.4(NEXN):c.1400del (p.Ile467fs)
|
|
|
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)
|
rs397517846
|
|
NM_144573.4(NEXN):c.1407A>C (p.Glu469Asp)
|
|
|
NM_144573.4(NEXN):c.1407delinsGC (p.Glu470fs)
|
|
|
NM_144573.4(NEXN):c.1411C>A (p.Arg471=)
|
|
|
NM_144573.4(NEXN):c.1412G>A (p.Arg471Gln)
|
rs746761862
|
|
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del)
|
rs794729091
|
|
NM_144573.4(NEXN):c.1417A>G (p.Arg473Gly)
|
|
|
NM_144573.4(NEXN):c.1422G>C (p.Arg474Ser)
|
rs775204901
|
|
NM_144573.4(NEXN):c.1426G>A (p.Ala476Thr)
|
|
|
NM_144573.4(NEXN):c.1429A>G (p.Ile477Val)
|
rs1553240667
|
|
NM_144573.4(NEXN):c.142del (p.Arg48fs)
|
|
|
NM_144573.4(NEXN):c.1430T>G (p.Ile477Ser)
|
rs727504658
|
|
NM_144573.4(NEXN):c.1431T>C (p.Ile477=)
|
|
|
NM_144573.4(NEXN):c.1437T>G (p.Leu479=)
|
rs2102156211
|
|
NM_144573.4(NEXN):c.1445_1446del (p.Lys482fs)
|
rs794729092
|
|
NM_144573.4(NEXN):c.1450C>T (p.Arg484Ter)
|
rs767792289
|
|
NM_144573.4(NEXN):c.1451G>A (p.Arg484Gln)
|
rs1342442796
|
|
NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly)
|
rs397517847
|
|
NM_144573.4(NEXN):c.1473+115_1473+119del
|
rs200998362
|
|
NM_144573.4(NEXN):c.1473+15del
|
|
|
NM_144573.4(NEXN):c.1473+1G>T
|
rs1177977536
|
|
NM_144573.4(NEXN):c.1473+5A>G
|
rs1650735272
|
|
NM_144573.4(NEXN):c.1473+7dup
|
|
|
NM_144573.4(NEXN):c.1473G>A (p.Glu491=)
|
|
|
NM_144573.4(NEXN):c.1474-18T>C
|
|
|
NM_144573.4(NEXN):c.1477G>A (p.Asp493Asn)
|
rs1553241790
|
|
NM_144573.4(NEXN):c.1478ATG[1] (p.Asp494del)
|
rs1064796362
|
|
NM_144573.4(NEXN):c.1481A>T (p.Asp494Val)
|
rs750183004
|
|
NM_144573.4(NEXN):c.1484T>C (p.Val495Ala)
|
|
|
NM_144573.4(NEXN):c.1491T>C (p.Val497=)
|
|
|
NM_144573.4(NEXN):c.1498G>A (p.Ala500Thr)
|
rs1193200803
|
|
NM_144573.4(NEXN):c.1499C>A (p.Ala500Glu)
|
rs2102176895
|
|
NM_144573.4(NEXN):c.1501A>T (p.Arg501Ter)
|
|
|
NM_144573.4(NEXN):c.1502del (p.Arg501fs)
|
rs1425668712
|
|
NM_144573.4(NEXN):c.1509C>T (p.Ser503=)
|
|
|
NM_144573.4(NEXN):c.1510G>A (p.Glu504Lys)
|
|
|
NM_144573.4(NEXN):c.151A>C (p.Arg51=)
|
|
|
NM_144573.4(NEXN):c.1522A>T (p.Thr508Ser)
|
|
|
NM_144573.4(NEXN):c.1525C>A (p.His509Asn)
|
|
|
NM_144573.4(NEXN):c.1527C>T (p.His509=)
|
|
|
NM_144573.4(NEXN):c.1533G>A (p.Val511=)
|
|
|
NM_144573.4(NEXN):c.1533G>T (p.Val511=)
|
rs765353395
|
|
NM_144573.4(NEXN):c.1535_1537dup (p.Asn512_Met513insAsn)
|
|
|
NM_144573.4(NEXN):c.1536dup (p.Met513fs)
|
|
|
NM_144573.4(NEXN):c.1537A>G (p.Met513Val)
|
|
|
NM_144573.4(NEXN):c.1549T>G (p.Phe517Val)
|
|
|
NM_144573.4(NEXN):c.1550T>A (p.Phe517Tyr)
|
rs1557996817
|
|
NM_144573.4(NEXN):c.1568C>T (p.Ala523Val)
|
|
|
NM_144573.4(NEXN):c.156C>A (p.Asp52Glu)
|
rs371431782
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_144573.4(NEXN):c.1582_1585delinsCAAA (p.Glu528_Gln529delinsGlnLys)
|
rs1557996950
|
|
NM_144573.4(NEXN):c.1585C>A (p.Gln529Lys)
|
rs766323670
|
|
NM_144573.4(NEXN):c.1585_1594del (p.Gln529fs)
|
|
|
NM_144573.4(NEXN):c.1589GAA[1] (p.Arg531del)
|
rs754350672
|
|
NM_144573.4(NEXN):c.1589_1590del (p.Arg530fs)
|
rs869025492
|
|
NM_144573.4(NEXN):c.1593A>G (p.Arg531=)
|
rs1359392123
|
|
NM_144573.4(NEXN):c.15C>T (p.Ser5=)
|
|
|
NM_144573.4(NEXN):c.1604A>G (p.Gln535Arg)
|
|
|
NM_144573.4(NEXN):c.1606_1607del (p.Lys536fs)
|
rs1394704286
|
|
NM_144573.4(NEXN):c.1611A>G (p.Leu537=)
|
|
|
NM_144573.4(NEXN):c.1630del (p.Gln544fs)
|
rs730880172
|
|
NM_144573.4(NEXN):c.1634G>C (p.Arg545Thr)
|
|
|
NM_144573.4(NEXN):c.1638A>G (p.Glu546=)
|
|
|
NM_144573.4(NEXN):c.1640T>A (p.Ile547Asn)
|
rs753636624
|
|
NM_144573.4(NEXN):c.1652T>C (p.Leu551Pro)
|
|
|
NM_144573.4(NEXN):c.1659+2T>C
|
|
|
NM_144573.4(NEXN):c.1659+8G>A
|
|
|
NM_144573.4(NEXN):c.1659+9C>T
|
|
|
NM_144573.4(NEXN):c.1659G>C (p.Lys553Asn)
|
|
|
NM_144573.4(NEXN):c.1660-11_1660-7del
|
rs727503344
|
|
NM_144573.4(NEXN):c.1660-16A>C
|
|
|
NM_144573.4(NEXN):c.1660-80del
|
rs374889046
|
|
NM_144573.4(NEXN):c.1660A>G (p.Lys554Glu)
|
rs1651445147
|
|
NM_144573.4(NEXN):c.1661A>G (p.Lys554Arg)
|
rs1651445427
|
|
NM_144573.4(NEXN):c.1666G>C (p.Glu556Gln)
|
|
|
NM_144573.4(NEXN):c.1668_1673del (p.Glu561_Glu562del)
|
|
|
NM_144573.4(NEXN):c.166_169del (p.Arg56fs)
|
rs765396527
|
|
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del)
|
rs397517848
|
|
NM_144573.4(NEXN):c.1671GGA[3] (p.Glu562del)
|
rs397517848
|
|
NM_144573.4(NEXN):c.1671GGA[5] (p.Glu562dup)
|
rs397517848
|
|
NM_144573.4(NEXN):c.1671_1672insCTT (p.Glu557_Glu558insLeu)
|
|
|
NM_144573.4(NEXN):c.1672G>A (p.Glu558Lys)
|
rs927477236
|
|
NM_144573.4(NEXN):c.1674G>A (p.Glu558=)
|
rs937473668
|
|
NM_144573.4(NEXN):c.1677G>A (p.Glu559=)
|
|
|
NM_144573.4(NEXN):c.1678G>A (p.Glu560Lys)
|
rs377257742
|
|
NM_144573.4(NEXN):c.1678G>C (p.Glu560Gln)
|
|
|
NM_144573.4(NEXN):c.167GAA[1] (p.Arg57del)
|
rs1435048653
|
|
NM_144573.4(NEXN):c.1680G>A (p.Glu560=)
|
|
|
NM_144573.4(NEXN):c.1682AAG[1] (p.Glu562del)
|
rs1228931205
|
|
NM_144573.4(NEXN):c.1684G>C (p.Glu562Gln)
|
rs794729085
|
|
NM_144573.4(NEXN):c.1693A>G (p.Ile565Val)
|
|
|
NM_144573.4(NEXN):c.1694T>C (p.Ile565Thr)
|
|
|
NM_144573.4(NEXN):c.1697T>C (p.Met566Thr)
|
rs369894742
|
|
NM_144573.4(NEXN):c.1704C>G (p.Gly568=)
|
rs397517850
|
|
NM_144573.4(NEXN):c.1719T>C (p.Asp573=)
|
|
|
NM_144573.4(NEXN):c.1733G>T (p.Arg578Ile)
|
rs374878979
|
|
NM_144573.4(NEXN):c.1737A>G (p.Ser579=)
|
|
|
NM_144573.4(NEXN):c.1744C>T (p.Pro582Ser)
|
|
|
NM_144573.4(NEXN):c.1749G>A (p.Trp583Ter)
|
rs2102180638
|
|
NM_144573.4(NEXN):c.1751_1757del (p.Phe584fs)
|
rs2102180670
|
|
NM_144573.4(NEXN):c.1752C>T (p.Phe584=)
|
|
|
NM_144573.4(NEXN):c.1753AAG[1] (p.Lys586del)
|
rs397517851
|
|
NM_144573.4(NEXN):c.1757A>G (p.Lys586Arg)
|
|
|
NM_144573.4(NEXN):c.176A>G (p.Glu59Gly)
|
rs1219781969
|
|
NM_144573.4(NEXN):c.1770C>T (p.Asn590=)
|
rs1557998187
|
|
NM_144573.4(NEXN):c.1772C>T (p.Thr591Ile)
|
|
|
NM_144573.4(NEXN):c.1773A>G (p.Thr591=)
|
rs727503345
|
|
NM_144573.4(NEXN):c.1774T>A (p.Ser592Thr)
|
|
|
NM_144573.4(NEXN):c.1779T>G (p.Val593=)
|
|
|
NM_144573.4(NEXN):c.1789G>A (p.Glu597Lys)
|
|
|
NM_144573.4(NEXN):c.178C>T (p.Gln60Ter)
|
rs1649088164
|
|
NM_144573.4(NEXN):c.1794A>G (p.Pro598=)
|
rs1651468941
|
|
NM_144573.4(NEXN):c.1796T>G (p.Val599Gly)
|
|
|
NM_144573.4(NEXN):c.1802T>G (p.Phe601Cys)
|
rs2102181052
|
|
NM_144573.4(NEXN):c.1809T>C (p.Val603=)
|
|
|
NM_144573.4(NEXN):c.1809T>G (p.Val603=)
|
rs1571175311
|
|
NM_144573.4(NEXN):c.1814del (p.Val605fs)
|
|
|
NM_144573.4(NEXN):c.1819G>A (p.Gly607Arg)
|
|
|
NM_144573.4(NEXN):c.1820_1822del (p.Gly607del)
|
rs876657928
|
|
NM_144573.4(NEXN):c.1826C>G (p.Pro609Arg)
|
|
|
NM_144573.4(NEXN):c.1829A>G (p.Lys610Arg)
|
|
|
NM_144573.4(NEXN):c.1831C>A (p.Pro611Thr)
|
rs137853198
|
|
NM_144573.4(NEXN):c.1835A>G (p.Glu612Gly)
|
rs2102181361
|
|
NM_144573.4(NEXN):c.1839T>A (p.Ile613=)
|
|
|
NM_144573.4(NEXN):c.1839T>C (p.Ile613=)
|
|
|
NM_144573.4(NEXN):c.1850T>G (p.Phe617Cys)
|
|
|
NM_144573.4(NEXN):c.1852G>A (p.Glu618Lys)
|
rs1060502321
|
|
NM_144573.4(NEXN):c.1855G>A (p.Gly619Arg)
|
|
|
NM_144573.4(NEXN):c.1867C>G (p.Gln623Glu)
|
|
|
NM_144573.4(NEXN):c.1867C>T (p.Gln623Ter)
|
|
|
NM_144573.4(NEXN):c.1875AGA[1] (p.Glu626del)
|
rs2102181599
|
|
NM_144573.4(NEXN):c.1877A>G (p.Glu626Gly)
|
rs1571175641
|
|
NM_144573.4(NEXN):c.1878dup (p.Asp627fs)
|
rs2102181621
|
|
NM_144573.4(NEXN):c.1886A>G (p.Gln629Arg)
|
|
|
NM_144573.4(NEXN):c.1887A>G (p.Gln629=)
|
rs727503346
|
|
NM_144573.4(NEXN):c.1890T>C (p.Tyr630=)
|
rs1057523025
|
|
NM_144573.4(NEXN):c.1898G>A (p.Arg633Lys)
|
|
|
NM_144573.4(NEXN):c.1898G>C (p.Arg633Thr)
|
|
|
NM_144573.4(NEXN):c.1901_1904delinsTCT (p.Gly634fs)
|
rs1553242300
|
|
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs)
|
rs775629965
|
|
NM_144573.4(NEXN):c.190G>C (p.Glu64Gln)
|
rs2102092407
|
|
NM_144573.4(NEXN):c.1911C>A (p.Tyr637Ter)
|
rs772833406
|
|
NM_144573.4(NEXN):c.1918_1922del (p.Tyr640fs)
|
rs1222794437
|
|
NM_144573.4(NEXN):c.1921T>C (p.Leu641=)
|
rs1321925816
|
|
NM_144573.4(NEXN):c.1922T>C (p.Leu641Ser)
|
rs760119697
|
|
NM_144573.4(NEXN):c.1922T>G (p.Leu641Ter)
|
|
|
NM_144573.4(NEXN):c.1924C>G (p.Pro642Ala)
|
|
|
NM_144573.4(NEXN):c.1928A>C (p.Glu643Ala)
|
rs1651487390
|
|
NM_144573.4(NEXN):c.1930del (p.Thr644fs)
|
|
|
NM_144573.4(NEXN):c.1935C>G (p.Phe645Leu)
|
rs794729086
|
|
NM_144573.4(NEXN):c.1937C>A (p.Pro646Gln)
|
rs397517852
|
|
NM_144573.4(NEXN):c.1938A>C (p.Pro646=)
|
rs1571176052
|
|
NM_144573.4(NEXN):c.1943A>G (p.Asp648Gly)
|
rs754430866
|
|
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)
|
rs397517853
|
|
NM_144573.4(NEXN):c.1948G>A (p.Gly650Arg)
|
|
|
NM_144573.4(NEXN):c.1950A>G (p.Gly650=)
|
rs2102182136
|
|
NM_144573.4(NEXN):c.1951G>A (p.Glu651Lys)
|
rs1211415757
|
|
NM_144573.4(NEXN):c.1952_1953del (p.Glu651fs)
|
rs1553242326
|
|
NM_144573.4(NEXN):c.1958T>C (p.Met653Thr)
|
|
|
NM_144573.4(NEXN):c.1959G>A (p.Met653Ile)
|
|
|
NM_144573.4(NEXN):c.195A>G (p.Arg65=)
|
rs2102092422
|
|
NM_144573.4(NEXN):c.1965A>G (p.Lys655=)
|
|
|
NM_144573.4(NEXN):c.1976A>G (p.Asn659Ser)
|
|
|
NM_144573.4(NEXN):c.2001dup (p.Ile668fs)
|
|
|
NM_144573.4(NEXN):c.2002A>G (p.Ile668Val)
|
|
|
NM_144573.4(NEXN):c.2008A>T (p.Thr670Ser)
|
rs1571176371
|
|
NM_144573.4(NEXN):c.2010C>A (p.Thr670=)
|
|
|
NM_144573.4(NEXN):c.2015A>G (p.Glu672Gly)
|
rs876657930
|
|
NM_144573.4(NEXN):c.2017A>G (p.Ser673Gly)
|
rs1651500018
|
|
NM_144573.4(NEXN):c.2019_2022del (p.Ser673fs)
|
|
|
NM_144573.4(NEXN):c.201G>A (p.Trp67Ter)
|
rs999958582
|
|
NM_144573.4(NEXN):c.214C>A (p.Gln72Lys)
|
|
|
NM_144573.4(NEXN):c.220-13_220-10del
|
rs751831143
|
|
NM_144573.4(NEXN):c.220-17T>C
|
|
|
NM_144573.4(NEXN):c.220-19_220-16del
|
rs780428399
|
|
NM_144573.4(NEXN):c.220A>C (p.Ile74Leu)
|
rs727503342
|
|
NM_144573.4(NEXN):c.227A>G (p.Glu76Gly)
|
|
|
NM_144573.4(NEXN):c.244G>A (p.Asp82Asn)
|
rs199720912
|
|
NM_144573.4(NEXN):c.244G>C (p.Asp82His)
|
rs199720912
|
|
NM_144573.4(NEXN):c.246T>C (p.Asp82=)
|
|
|
NM_144573.4(NEXN):c.247G>A (p.Glu83Lys)
|
|
|
NM_144573.4(NEXN):c.249G>C (p.Glu83Asp)
|
rs372532824
|
|
NM_144573.4(NEXN):c.254A>G (p.Asp85Gly)
|
|
|
NM_144573.4(NEXN):c.255T>G (p.Asp85Glu)
|
|
|
NM_144573.4(NEXN):c.257T>C (p.Val86Ala)
|
rs1557974419
|
|
NM_144573.4(NEXN):c.25_27+2del
|
|
|
NM_144573.4(NEXN):c.27+7C>T
|
rs2102087424
|
|
NM_144573.4(NEXN):c.27G>A (p.Glu9=)
|
|
|
NM_144573.4(NEXN):c.28-12C>A
|
|
|
NM_144573.4(NEXN):c.28-85del
|
rs112597766
|
|
NM_144573.4(NEXN):c.28-9C>T
|
rs764131101
|
|
NM_144573.4(NEXN):c.29T>G (p.Ile10Ser)
|
|
|
NM_144573.4(NEXN):c.32T>C (p.Leu11Pro)
|
|
|
NM_144573.4(NEXN):c.43T>C (p.Ser15Pro)
|
|
|
NM_144573.4(NEXN):c.448-47del
|
rs200727461
|
|
NM_144573.4(NEXN):c.450T>A (p.Ile150=)
|
rs1064797051
|
|
NM_144573.4(NEXN):c.457A>G (p.Ile153Val)
|
|
|
NM_144573.4(NEXN):c.45T>C (p.Ser15=)
|
|
|
NM_144573.4(NEXN):c.460A>G (p.Asn154Asp)
|
rs1649751729
|
|
NM_144573.4(NEXN):c.461_464del (p.Asn154fs)
|
rs794729088
|
|
NM_144573.4(NEXN):c.467C>T (p.Thr156Met)
|
|
|
NM_144573.4(NEXN):c.46A>G (p.Lys16Glu)
|
|
|
NM_144573.4(NEXN):c.474T>C (p.Thr158=)
|
|
|
NM_144573.4(NEXN):c.47A>C (p.Lys16Thr)
|
|
|
NM_144573.4(NEXN):c.483A>C (p.Ala161=)
|
rs1290445861
|
|
NM_144573.4(NEXN):c.487G>C (p.Glu163Gln)
|
|
|
NM_144573.4(NEXN):c.490-14A>G
|
|
|
NM_144573.4(NEXN):c.490-15T>A
|
|
|
NM_144573.4(NEXN):c.490-21_490-18del
|
rs775189174
|
|
NM_144573.4(NEXN):c.491A>G (p.Glu164Gly)
|
rs1553238441
|
|
NM_144573.4(NEXN):c.492A>G (p.Glu164=)
|
rs1571134764
|
|
NM_144573.4(NEXN):c.494G>C (p.Gly165Ala)
|
|
|
NM_144573.4(NEXN):c.50C>G (p.Pro17Arg)
|
|
|
NM_144573.4(NEXN):c.511dup (p.Ile171fs)
|
rs2102123363
|
|
NM_144573.4(NEXN):c.522A>C (p.Val174=)
|
|
|
NM_144573.4(NEXN):c.524C>G (p.Pro175Arg)
|
|
|
NM_144573.4(NEXN):c.52G>A (p.Val18Ile)
|
rs2102091643
|
|
NM_144573.4(NEXN):c.535T>C (p.Tyr179His)
|
rs1557981610
|
|
NM_144573.4(NEXN):c.542C>A (p.Thr181Lys)
|
rs764640427
|
|
NM_144573.4(NEXN):c.55C>T (p.Pro19Ser)
|
rs199981645
|
|
NM_144573.4(NEXN):c.561G>A (p.Lys187=)
|
|
|
NM_144573.4(NEXN):c.561G>T (p.Lys187Asn)
|
|
|
NM_144573.4(NEXN):c.571del (p.Asp191fs)
|
rs794729089
|
|
NM_144573.4(NEXN):c.582A>T (p.Lys194Asn)
|
rs2102123630
|
|
NM_144573.4(NEXN):c.583G>C (p.Glu195Gln)
|
|
|
NM_144573.4(NEXN):c.586_591del (p.Arg196_Glu197del)
|
|
|
NM_144573.4(NEXN):c.587G>A (p.Arg196His)
|
|
|
NM_144573.4(NEXN):c.591A>G (p.Glu197=)
|
rs2102123700
|
|
NM_144573.4(NEXN):c.595A>G (p.Lys199Glu)
|
rs1354265495
|
|
NM_144573.4(NEXN):c.609G>C (p.Lys203Asn)
|
|
|
NM_144573.4(NEXN):c.60A>C (p.Lys20Asn)
|
rs1557973780
|
|
NM_144573.4(NEXN):c.612C>T (p.Tyr204=)
|
|
|
NM_144573.4(NEXN):c.616G>A (p.Glu206Lys)
|
rs370428679
|
|
NM_144573.4(NEXN):c.62C>T (p.Thr21Ile)
|
rs794729081
|
|
NM_144573.4(NEXN):c.633A>T (p.Arg211Ser)
|
rs745502254
|
|
NM_144573.4(NEXN):c.634T>C (p.Tyr212His)
|
|
|
NM_144573.4(NEXN):c.635A>T (p.Tyr212Phe)
|
|
|
NM_144573.4(NEXN):c.643C>G (p.Gln215Glu)
|
rs1557981819
|
|
NM_144573.4(NEXN):c.644A>G (p.Gln215Arg)
|
rs2102123963
|
|
NM_144573.4(NEXN):c.646C>T (p.Arg216Ter)
|
rs763730619
|
|
NM_144573.4(NEXN):c.651A>G (p.Pro217=)
|
|
|
NM_144573.4(NEXN):c.666A>G (p.Ala222=)
|
|
|
NM_144573.4(NEXN):c.676del (p.Ser226fs)
|
|
|
NM_144573.4(NEXN):c.677del (p.Ser226fs)
|
rs397517859
|
|
NM_144573.4(NEXN):c.685A>C (p.Met229Leu)
|
|
|
NM_144573.4(NEXN):c.685A>G (p.Met229Val)
|
rs1179163117
|
|
NM_144573.4(NEXN):c.687+23del
|
rs141957231
|
|
NM_144573.4(NEXN):c.687+6T>A
|
|
|
NM_144573.4(NEXN):c.687+8TTTG[2]
|
rs768486390
|
|
NM_144573.4(NEXN):c.688-1G>A
|
|
|
NM_144573.4(NEXN):c.696A>T (p.Glu232Asp)
|
rs1173550376
|
|
NM_144573.4(NEXN):c.700del (p.Glu234fs)
|
|
|
NM_144573.4(NEXN):c.70C>G (p.Pro24Ala)
|
|
|
NM_144573.4(NEXN):c.711A>G (p.Ala237=)
|
|
|
NM_144573.4(NEXN):c.717dup (p.Glu240fs)
|
|
|
NM_144573.4(NEXN):c.71C>T (p.Pro24Leu)
|
|
|
NM_144573.4(NEXN):c.730C>T (p.Pro244Ser)
|
|
|
NM_144573.4(NEXN):c.732C>T (p.Pro244=)
|
rs201171783
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NM_144573.4(NEXN):c.749C>G (p.Thr250Ser)
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rs1649881678
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NM_144573.4(NEXN):c.752T>G (p.Phe251Cys)
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rs554389574
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NM_144573.4(NEXN):c.761T>C (p.Leu254Pro)
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NM_144573.4(NEXN):c.769C>A (p.Gln257Lys)
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NM_144573.4(NEXN):c.774A>C (p.Arg258Ser)
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rs1278436075
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NM_144573.4(NEXN):c.784C>T (p.Arg262Ter)
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rs1002648603
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NM_144573.4(NEXN):c.785G>A (p.Arg262Gln)
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rs369941497
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NM_144573.4(NEXN):c.789G>A (p.Lys263=)
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NM_144573.4(NEXN):c.790A>C (p.Lys264Gln)
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rs752321632
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NM_144573.4(NEXN):c.793C>A (p.Gln265Lys)
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rs761106568
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NM_144573.4(NEXN):c.794A>C (p.Gln265Pro)
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rs1649888139
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NM_144573.4(NEXN):c.798del (p.Glu267fs)
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NM_144573.4(NEXN):c.7_9del (p.Asp3del)
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rs760463744
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NM_144573.4(NEXN):c.802G>C (p.Glu268Gln)
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NM_144573.4(NEXN):c.803A>G (p.Glu268Gly)
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NM_144573.4(NEXN):c.80G>T (p.Gly27Val)
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NM_144573.4(NEXN):c.813_814insGG (p.Lys272fs)
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NM_144573.4(NEXN):c.816A>G (p.Lys272=)
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NM_144573.4(NEXN):c.817del (p.Arg273fs)
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rs2102125160
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NM_144573.4(NEXN):c.820T>C (p.Leu274=)
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NM_144573.4(NEXN):c.821T>C (p.Leu274Ser)
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rs2102125189
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NM_144573.4(NEXN):c.826G>A (p.Glu276Lys)
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rs1649891198
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NM_144573.4(NEXN):c.842T>C (p.Phe281Ser)
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NM_144573.4(NEXN):c.848A>T (p.Glu283Val)
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rs374691663
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NM_144573.4(NEXN):c.855G>A (p.Arg285=)
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rs753748512
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NM_144573.4(NEXN):c.859C>T (p.Gln287Ter)
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rs1402442744
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NM_144573.4(NEXN):c.864+11A>G
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NM_144573.4(NEXN):c.864G>T (p.Met288Ile)
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rs371666396
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NM_144573.4(NEXN):c.865-1G>A
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NM_144573.4(NEXN):c.865-4T>C
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rs542794485
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NM_144573.4(NEXN):c.865-9_892del
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NM_144573.4(NEXN):c.86G>T (p.Gly29Val)
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rs876657931
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NM_144573.4(NEXN):c.889G>C (p.Asp297His)
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rs1650107233
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NM_144573.4(NEXN):c.8A>T (p.Asp3Val)
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NM_144573.4(NEXN):c.901A>G (p.Ile301Val)
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NM_144573.4(NEXN):c.910G>C (p.Gly304Arg)
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rs1650108809
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NM_144573.4(NEXN):c.919C>A (p.Pro307Thr)
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NM_144573.4(NEXN):c.930C>T (p.Leu310=)
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NM_144573.4(NEXN):c.934C>T (p.Leu312Phe)
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NM_144573.4(NEXN):c.935T>A (p.Leu312His)
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rs2102133294
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NM_144573.4(NEXN):c.946G>A (p.Glu316Lys)
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rs2102133320
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NM_144573.4(NEXN):c.962del (p.Arg321fs)
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rs915318065
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NM_144573.4(NEXN):c.972T>C (p.Asp324=)
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NM_144573.4(NEXN):c.980G>T (p.Arg327Met)
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NM_144573.4(NEXN):c.989A>C (p.Glu330Ala)
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rs1650118976
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NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)
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rs727505124
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NM_144573.4(NEXN):c.98A>G (p.Asp33Gly)
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NM_144573.4(NEXN):c.994G>A (p.Glu332Lys)
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NM_144573.4(NEXN):c.996A>G (p.Glu332=)
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