NM_144573.4(NEXN):c.733G>A (p.Gly245Arg)
|
rs1166698
|
0.15380
|
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.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.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.1788T>G (p.Ser596Arg)
|
rs199738750
|
0.00029
|
NM_144573.4(NEXN):c.242A>T (p.Asp81Val)
|
rs367871780
|
0.00028
|
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.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.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.1053+1G>A
|
rs397517843
|
0.00003
|
NM_144573.4(NEXN):c.1662A>G (p.Lys554=)
|
rs752270974
|
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.468G>A (p.Thr156=)
|
rs199988442
|
0.00003
|
NM_144573.4(NEXN):c.634T>A (p.Tyr212Asn)
|
rs769549962
|
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.1046G>C (p.Arg349Thr)
|
rs898035834
|
0.00002
|
NM_144573.4(NEXN):c.1368A>C (p.Gly456=)
|
rs397517845
|
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.1244T>C (p.Met415Thr)
|
rs1172366391
|
0.00001
|
NM_144573.4(NEXN):c.1251+10T>C
|
rs1397556067
|
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.1366G>A (p.Gly456Arg)
|
rs397517844
|
0.00001
|
NM_144573.4(NEXN):c.1401A>T (p.Ile467=)
|
rs1571157558
|
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.1430T>C (p.Ile477Thr)
|
rs727504658
|
0.00001
|
NM_144573.4(NEXN):c.1432G>A (p.Asp478Asn)
|
rs1309129145
|
0.00001
|
NM_144573.4(NEXN):c.1474-10T>C
|
rs374541562
|
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.1640T>C (p.Ile547Thr)
|
rs753636624
|
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.1704C>T (p.Gly568=)
|
rs397517850
|
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.1805C>T (p.Thr602Met)
|
rs756709134
|
0.00001
|
NM_144573.4(NEXN):c.1859A>G (p.Glu620Gly)
|
rs748404504
|
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.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.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.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.669G>A (p.Lys223=)
|
rs767747207
|
0.00001
|
NM_144573.4(NEXN):c.66T>C (p.Tyr22=)
|
rs749182975
|
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.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
|
|
|
NM_144573.3(NEXN):c.2026_*1del
|
rs794729094
|
|
NM_144573.4(NEXN):c.1012G>C (p.Glu338Gln)
|
|
|
NM_144573.4(NEXN):c.1030T>G (p.Phe344Val)
|
|
|
NM_144573.4(NEXN):c.1049A>G (p.Asn350Ser)
|
|
|
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.106G>A (p.Glu36Lys)
|
|
|
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.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.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.1144T>C (p.Leu382=)
|
|
|
NM_144573.4(NEXN):c.1162G>A (p.Glu388Lys)
|
|
|
NM_144573.4(NEXN):c.1170del (p.Lys390fs)
|
|
|
NM_144573.4(NEXN):c.1175G>C (p.Arg392Pro)
|
rs971313210
|
|
NM_144573.4(NEXN):c.1179A>C (p.Thr393=)
|
rs1650467406
|
|
NM_144573.4(NEXN):c.1182G>A (p.Glu394=)
|
|
|
NM_144573.4(NEXN):c.1195C>A (p.His399Asn)
|
rs779417583
|
|
NM_144573.4(NEXN):c.1200G>A (p.Lys400=)
|
|
|
NM_144573.4(NEXN):c.1228C>T (p.Gln410Ter)
|
rs1557988499
|
|
NM_144573.4(NEXN):c.1231C>T (p.Leu411=)
|
|
|
NM_144573.4(NEXN):c.1233_1234insGCCGGGCCCGGTGGCTCACGCCTGTAATCCCAGCACATTGGGAGGCCGAGACTGGAGGATCACGAGTTCAGGAGATCGATACCATACANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTGAACAACTG (p.Arg412delinsAlaGlyProGlyGlySerArgLeuTer)
|
rs2102146999
|
|
NM_144573.4(NEXN):c.1242A>C (p.Glu414Asp)
|
|
|
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.1252-19_1252-18del
|
|
|
NM_144573.4(NEXN):c.1252-1G>A
|
rs1650708891
|
|
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.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.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.1383A>G (p.Lys461=)
|
|
|
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)
|
rs397517846
|
|
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.1422G>C (p.Arg474Ser)
|
rs775204901
|
|
NM_144573.4(NEXN):c.1429A>G (p.Ile477Val)
|
rs1553240667
|
|
NM_144573.4(NEXN):c.1437T>G (p.Leu479=)
|
rs2102156211
|
|
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+15del
|
|
|
NM_144573.4(NEXN):c.1473+1G>T
|
rs1177977536
|
|
NM_144573.4(NEXN):c.1473+7dup
|
|
|
NM_144573.4(NEXN):c.1474-18T>C
|
|
|
NM_144573.4(NEXN):c.1477G>A (p.Asp493Asn)
|
rs1553241790
|
|
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.1525C>A (p.His509Asn)
|
|
|
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.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.1585_1594del (p.Gln529fs)
|
|
|
NM_144573.4(NEXN):c.1589GAA[1] (p.Arg531del)
|
rs754350672
|
|
NM_144573.4(NEXN):c.15C>T (p.Ser5=)
|
|
|
NM_144573.4(NEXN):c.1606_1607del (p.Lys536fs)
|
rs1394704286
|
|
NM_144573.4(NEXN):c.1638A>G (p.Glu546=)
|
|
|
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.1660A>G (p.Lys554Glu)
|
rs1651445147
|
|
NM_144573.4(NEXN):c.1661A>G (p.Lys554Arg)
|
rs1651445427
|
|
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.1674G>A (p.Glu558=)
|
rs937473668
|
|
NM_144573.4(NEXN):c.1678G>A (p.Glu560Lys)
|
rs377257742
|
|
NM_144573.4(NEXN):c.167GAA[1] (p.Arg57del)
|
rs1435048653
|
|
NM_144573.4(NEXN):c.1682AAG[1] (p.Glu562del)
|
rs1228931205
|
|
NM_144573.4(NEXN):c.1697T>C (p.Met566Thr)
|
rs369894742
|
|
NM_144573.4(NEXN):c.1752C>T (p.Phe584=)
|
|
|
NM_144573.4(NEXN):c.1753AAG[1] (p.Lys586del)
|
rs397517851
|
|
NM_144573.4(NEXN):c.176A>G (p.Glu59Gly)
|
rs1219781969
|
|
NM_144573.4(NEXN):c.1779T>G (p.Val593=)
|
|
|
NM_144573.4(NEXN):c.1789G>A (p.Glu597Lys)
|
|
|
NM_144573.4(NEXN):c.1794A>G (p.Pro598=)
|
rs1651468941
|
|
NM_144573.4(NEXN):c.1809T>G (p.Val603=)
|
rs1571175311
|
|
NM_144573.4(NEXN):c.1820_1822del (p.Gly607del)
|
rs876657928
|
|
NM_144573.4(NEXN):c.1829A>G (p.Lys610Arg)
|
|
|
NM_144573.4(NEXN):c.1835A>G (p.Glu612Gly)
|
rs2102181361
|
|
NM_144573.4(NEXN):c.1839T>C (p.Ile613=)
|
|
|
NM_144573.4(NEXN):c.1852G>A (p.Glu618Lys)
|
rs1060502321
|
|
NM_144573.4(NEXN):c.1867C>G (p.Gln623Glu)
|
|
|
NM_144573.4(NEXN):c.1877A>G (p.Glu626Gly)
|
rs1571175641
|
|
NM_144573.4(NEXN):c.1886A>G (p.Gln629Arg)
|
|
|
NM_144573.4(NEXN):c.1901_1904delinsTCT (p.Gly634fs)
|
rs1553242300
|
|
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.1928A>C (p.Glu643Ala)
|
rs1651487390
|
|
NM_144573.4(NEXN):c.1930del (p.Thr644fs)
|
|
|
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.1950A>G (p.Gly650=)
|
rs2102182136
|
|
NM_144573.4(NEXN):c.1951G>A (p.Glu651Lys)
|
rs1211415757
|
|
NM_144573.4(NEXN):c.1959G>A (p.Met653Ile)
|
|
|
NM_144573.4(NEXN):c.195A>G (p.Arg65=)
|
rs2102092422
|
|
NM_144573.4(NEXN):c.2008A>T (p.Thr670Ser)
|
rs1571176371
|
|
NM_144573.4(NEXN):c.2017A>G (p.Ser673Gly)
|
rs1651500018
|
|
NM_144573.4(NEXN):c.201G>A (p.Trp67Ter)
|
rs999958582
|
|
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.244G>A (p.Asp82Asn)
|
rs199720912
|
|
NM_144573.4(NEXN):c.244G>C (p.Asp82His)
|
rs199720912
|
|
NM_144573.4(NEXN):c.247G>A (p.Glu83Lys)
|
|
|
NM_144573.4(NEXN):c.27+7C>T
|
rs2102087424
|
|
NM_144573.4(NEXN):c.28-12C>A
|
|
|
NM_144573.4(NEXN):c.461_464del (p.Asn154fs)
|
rs794729088
|
|
NM_144573.4(NEXN):c.467C>T (p.Thr156Met)
|
|
|
NM_144573.4(NEXN):c.47A>C (p.Lys16Thr)
|
|
|
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.522A>C (p.Val174=)
|
|
|
NM_144573.4(NEXN):c.524C>G (p.Pro175Arg)
|
|
|
NM_144573.4(NEXN):c.55C>T (p.Pro19Ser)
|
rs199981645
|
|
NM_144573.4(NEXN):c.586_591del (p.Arg196_Glu197del)
|
|
|
NM_144573.4(NEXN):c.591A>G (p.Glu197=)
|
rs2102123700
|
|
NM_144573.4(NEXN):c.612C>T (p.Tyr204=)
|
|
|
NM_144573.4(NEXN):c.616G>A (p.Glu206Lys)
|
rs370428679
|
|
NM_144573.4(NEXN):c.643C>G (p.Gln215Glu)
|
rs1557981819
|
|
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.687+23del
|
rs141957231
|
|
NM_144573.4(NEXN):c.687+6T>A
|
|
|
NM_144573.4(NEXN):c.688-1G>A
|
|
|
NM_144573.4(NEXN):c.696A>T (p.Glu232Asp)
|
rs1173550376
|
|
NM_144573.4(NEXN):c.717dup (p.Glu240fs)
|
|
|
NM_144573.4(NEXN):c.730C>T (p.Pro244Ser)
|
|
|
NM_144573.4(NEXN):c.732C>T (p.Pro244=)
|
rs201171783
|
|
NM_144573.4(NEXN):c.749C>G (p.Thr250Ser)
|
rs1649881678
|
|
NM_144573.4(NEXN):c.752T>G (p.Phe251Cys)
|
rs554389574
|
|
NM_144573.4(NEXN):c.761T>C (p.Leu254Pro)
|
|
|
NM_144573.4(NEXN):c.784C>T (p.Arg262Ter)
|
rs1002648603
|
|
NM_144573.4(NEXN):c.785G>A (p.Arg262Gln)
|
rs369941497
|
|
NM_144573.4(NEXN):c.789G>A (p.Lys263=)
|
|
|
NM_144573.4(NEXN):c.790A>C (p.Lys264Gln)
|
rs752321632
|
|
NM_144573.4(NEXN):c.793C>A (p.Gln265Lys)
|
rs761106568
|
|
NM_144573.4(NEXN):c.794A>C (p.Gln265Pro)
|
rs1649888139
|
|
NM_144573.4(NEXN):c.798del (p.Glu267fs)
|
|
|
NM_144573.4(NEXN):c.7_9del (p.Asp3del)
|
rs760463744
|
|
NM_144573.4(NEXN):c.802G>C (p.Glu268Gln)
|
|
|
NM_144573.4(NEXN):c.803A>G (p.Glu268Gly)
|
|
|
NM_144573.4(NEXN):c.813_814insGG (p.Lys272fs)
|
|
|
NM_144573.4(NEXN):c.848A>T (p.Glu283Val)
|
rs374691663
|
|
NM_144573.4(NEXN):c.855G>A (p.Arg285=)
|
rs753748512
|
|
NM_144573.4(NEXN):c.864+11A>G
|
|
|
NM_144573.4(NEXN):c.865-9_892del
|
|
|
NM_144573.4(NEXN):c.889G>C (p.Asp297His)
|
rs1650107233
|
|
NM_144573.4(NEXN):c.910G>C (p.Gly304Arg)
|
rs1650108809
|
|
NM_144573.4(NEXN):c.919C>A (p.Pro307Thr)
|
|
|
NM_144573.4(NEXN):c.930C>T (p.Leu310=)
|
|
|
NM_144573.4(NEXN):c.934C>T (p.Leu312Phe)
|
|
|
NM_144573.4(NEXN):c.935T>A (p.Leu312His)
|
rs2102133294
|
|
NM_144573.4(NEXN):c.946G>A (p.Glu316Lys)
|
rs2102133320
|
|
NM_144573.4(NEXN):c.962del (p.Arg321fs)
|
rs915318065
|
|
NM_144573.4(NEXN):c.972T>C (p.Asp324=)
|
|
|
NM_144573.4(NEXN):c.989A>C (p.Glu330Ala)
|
rs1650118976
|
|
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)
|
rs727505124
|
|