NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)
|
rs150404125
|
0.00142
|
NM_000501.4(ELN):c.326G>A (p.Gly109Asp)
|
rs145519139
|
0.00040
|
NM_000501.4(ELN):c.*238C>T
|
rs546341976
|
0.00038
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_000501.4(ELN):c.647G>T (p.Gly216Val)
|
rs145612009
|
0.00034
|
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)
|
rs142316834
|
0.00031
|
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)
|
rs536177240
|
0.00026
|
NM_000501.4(ELN):c.930C>T (p.Ala310=)
|
rs147367888
|
0.00025
|
NM_000501.4(ELN):c.861G>A (p.Gly287=)
|
rs368610108
|
0.00024
|
NM_000501.4(ELN):c.1358-234G>C
|
rs1011146056
|
0.00022
|
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)
|
rs149117932
|
0.00021
|
NM_000501.4(ELN):c.*95C>T
|
rs181078432
|
0.00019
|
NM_000501.4(ELN):c.992C>T (p.Pro331Leu)
|
rs138504338
|
0.00017
|
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)
|
rs560081099
|
0.00015
|
NM_000501.4(ELN):c.232+3G>A
|
rs377172364
|
0.00015
|
NM_000501.4(ELN):c.*489G>T
|
rs886062432
|
0.00014
|
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr)
|
rs139335797
|
0.00013
|
NM_000501.4(ELN):c.35G>T (p.Gly12Val)
|
rs367634266
|
0.00012
|
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)
|
rs934014841
|
0.00012
|
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)
|
rs200133966
|
0.00011
|
NM_000501.4(ELN):c.202G>A (p.Gly68Arg)
|
rs372566075
|
0.00011
|
NM_000501.4(ELN):c.*570G>A
|
rs565400803
|
0.00010
|
NM_000501.4(ELN):c.1043G>A (p.Gly348Glu)
|
rs186728715
|
0.00010
|
NM_000501.4(ELN):c.1149C>T (p.Tyr383=)
|
rs199621188
|
0.00010
|
NM_000501.4(ELN):c.460G>A (p.Val154Met)
|
rs145669576
|
0.00010
|
NM_000501.4(ELN):c.*532C>T
|
rs939778506
|
0.00009
|
NM_000501.4(ELN):c.*591C>T
|
rs782460313
|
0.00009
|
NM_000501.4(ELN):c.554C>G (p.Ala185Gly)
|
rs781956448
|
0.00009
|
NM_000501.4(ELN):c.*644G>A
|
rs759507028
|
0.00008
|
NM_000501.4(ELN):c.1358-198G>A
|
rs192461213
|
0.00008
|
NM_000501.4(ELN):c.2051G>A (p.Gly684Asp)
|
rs150984896
|
0.00008
|
NM_000501.4(ELN):c.34G>A (p.Gly12Arg)
|
rs149127344
|
0.00008
|
NM_000501.4(ELN):c.1315+1G>A
|
rs782568267
|
0.00007
|
NM_000501.4(ELN):c.1537G>A (p.Val513Ile)
|
rs372788076
|
0.00007
|
NM_000501.4(ELN):c.403G>A (p.Gly135Arg)
|
rs373650953
|
0.00007
|
NM_000501.4(ELN):c.914C>T (p.Ala305Val)
|
rs782396192
|
0.00007
|
NM_000501.4(ELN):c.*629T>C
|
rs776424755
|
0.00006
|
NM_000501.4(ELN):c.1216G>A (p.Gly406Ser)
|
rs782563418
|
0.00006
|
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)
|
rs375116795
|
0.00006
|
NM_000501.4(ELN):c.1358-192C>T
|
rs185060213
|
0.00006
|
NM_000501.4(ELN):c.1543G>A (p.Val515Met)
|
rs376258672
|
0.00006
|
NM_000501.4(ELN):c.2032G>A (p.Gly678Ser)
|
rs375579231
|
0.00006
|
NM_000501.4(ELN):c.659C>T (p.Pro220Leu)
|
rs201012726
|
0.00006
|
NM_000501.4(ELN):c.773C>T (p.Ala258Val)
|
rs531144748
|
0.00006
|
NM_000501.4(ELN):c.1358-186C>T
|
rs782074494
|
0.00005
|
NM_000501.4(ELN):c.145G>A (p.Gly49Arg)
|
rs144757453
|
0.00005
|
NM_000501.4(ELN):c.*664G>A
|
rs952638605
|
0.00004
|
NM_000501.4(ELN):c.1063C>G (p.Pro355Ala)
|
rs782505248
|
0.00004
|
NM_000501.4(ELN):c.1348G>A (p.Ala450Thr)
|
rs782546858
|
0.00004
|
NM_000501.4(ELN):c.1859-15G>A
|
rs369551022
|
0.00004
|
NM_000501.4(ELN):c.1951G>A (p.Gly651Arg)
|
rs34852121
|
0.00004
|
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)
|
rs369804770
|
0.00004
|
NM_000501.4(ELN):c.478T>C (p.Phe160Leu)
|
rs781857513
|
0.00004
|
NM_000501.4(ELN):c.540A>C (p.Pro180=)
|
rs145778002
|
0.00004
|
NM_000501.4(ELN):c.593C>T (p.Pro198Leu)
|
rs146729533
|
0.00004
|
NM_000501.4(ELN):c.799G>A (p.Gly267Ser)
|
rs150092063
|
0.00004
|
NM_000501.4(ELN):c.853G>A (p.Val285Met)
|
rs199709542
|
0.00004
|
NM_000501.4(ELN):c.92G>A (p.Gly31Glu)
|
rs782625771
|
0.00004
|
NM_000501.4(ELN):c.*663C>T
|
rs886062433
|
0.00003
|
NM_000501.4(ELN):c.*794C>T
|
rs185988110
|
0.00003
|
NM_000501.4(ELN):c.1168G>A (p.Gly390Arg)
|
rs372889752
|
0.00003
|
NM_000501.4(ELN):c.1435G>A (p.Val479Met)
|
rs925528680
|
0.00003
|
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu)
|
rs140085632
|
0.00003
|
NM_000501.4(ELN):c.2020G>A (p.Ala674Thr)
|
rs782535492
|
0.00003
|
NM_000501.4(ELN):c.476G>A (p.Arg159Gln)
|
rs369045063
|
0.00003
|
NM_000501.4(ELN):c.*251C>T
|
rs886062430
|
0.00002
|
NM_000501.4(ELN):c.*631C>T
|
rs1168466814
|
0.00002
|
NM_000501.4(ELN):c.*997G>T
|
rs886062434
|
0.00002
|
NM_000501.4(ELN):c.1097-3C>T
|
rs782265101
|
0.00002
|
NM_000501.4(ELN):c.1097-8C>G
|
rs781785100
|
0.00002
|
NM_000501.4(ELN):c.113C>G (p.Pro38Arg)
|
rs781951450
|
0.00002
|
NM_000501.4(ELN):c.1282G>A (p.Gly428Arg)
|
rs200862792
|
0.00002
|
NM_000501.4(ELN):c.1288G>A (p.Gly430Arg)
|
rs374470120
|
0.00002
|
NM_000501.4(ELN):c.133+6G>A
|
rs1216357938
|
0.00002
|
NM_000501.4(ELN):c.1358-232G>C
|
rs782246342
|
0.00002
|
NM_000501.4(ELN):c.1622-14C>T
|
rs782637446
|
0.00002
|
NM_000501.4(ELN):c.164C>T (p.Ala55Val)
|
rs1411248717
|
0.00002
|
NM_000501.4(ELN):c.1747+21C>T
|
rs782679593
|
0.00002
|
NM_000501.4(ELN):c.20C>T (p.Ala7Val)
|
rs559210020
|
0.00002
|
NM_000501.4(ELN):c.2131+14C>T
|
rs782790041
|
0.00002
|
NM_000501.4(ELN):c.295G>A (p.Ala99Thr)
|
rs782660886
|
0.00002
|
NM_000501.4(ELN):c.367G>A (p.Val123Met)
|
rs1480312927
|
0.00002
|
NM_000501.4(ELN):c.683A>G (p.Tyr228Cys)
|
rs1471237206
|
0.00002
|
NM_000501.4(ELN):c.8G>A (p.Gly3Asp)
|
rs1198683869
|
0.00002
|
NM_000501.4(ELN):c.1009C>T (p.Pro337Ser)
|
rs1340826777
|
0.00001
|
NM_000501.4(ELN):c.1027G>C (p.Gly343Arg)
|
rs781939749
|
0.00001
|
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr)
|
rs973649598
|
0.00001
|
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)
|
rs782359367
|
0.00001
|
NM_000501.4(ELN):c.119G>T (p.Gly40Val)
|
rs55951999
|
0.00001
|
NM_000501.4(ELN):c.1281C>T (p.Pro427=)
|
rs376496267
|
0.00001
|
NM_000501.4(ELN):c.1300G>A (p.Gly434Arg)
|
rs782630866
|
0.00001
|
NM_000501.4(ELN):c.133+5C>T
|
rs375144839
|
0.00001
|
NM_000501.4(ELN):c.1358-235G>A
|
rs1293346828
|
0.00001
|
NM_000501.4(ELN):c.1366A>G (p.Thr456Ala)
|
rs370603113
|
0.00001
|
NM_000501.4(ELN):c.1463G>A (p.Gly488Asp)
|
rs1383828155
|
0.00001
|
NM_000501.4(ELN):c.1470T>C (p.Gly490=)
|
rs576324025
|
0.00001
|
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser)
|
rs374253638
|
0.00001
|
NM_000501.4(ELN):c.163+13A>G
|
rs782388951
|
0.00001
|
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)
|
rs150248865
|
0.00001
|
NM_000501.4(ELN):c.1747+81A>G
|
rs782668288
|
0.00001
|
NM_000501.4(ELN):c.1768G>A (p.Ala590Thr)
|
rs868932429
|
0.00001
|
NM_000501.4(ELN):c.1785T>C (p.Tyr595=)
|
rs727503033
|
0.00001
|
NM_000501.4(ELN):c.1787G>A (p.Gly596Glu)
|
rs1554685979
|
0.00001
|
NM_000501.4(ELN):c.1849G>A (p.Gly617Ser)
|
rs781904032
|
0.00001
|
NM_000501.4(ELN):c.1876G>A (p.Ala626Thr)
|
rs781861907
|
0.00001
|
NM_000501.4(ELN):c.1879G>A (p.Ala627Thr)
|
rs552662894
|
0.00001
|
NM_000501.4(ELN):c.1916T>C (p.Phe639Ser)
|
rs782280724
|
0.00001
|
NM_000501.4(ELN):c.1966G>A (p.Gly656Arg)
|
rs782783288
|
0.00001
|
NM_000501.4(ELN):c.443G>A (p.Gly148Asp)
|
rs781952083
|
0.00001
|
NM_000501.4(ELN):c.482C>G (p.Pro161Arg)
|
rs1792196459
|
0.00001
|
NM_000501.4(ELN):c.689A>T (p.Tyr230Phe)
|
rs1411516655
|
0.00001
|
NM_000501.4(ELN):c.767C>T (p.Ala256Val)
|
rs782285456
|
0.00001
|
NM_000501.4(ELN):c.798C>T (p.Phe266=)
|
rs552274876
|
0.00001
|
NM_000501.4(ELN):c.898A>T (p.Thr300Ser)
|
rs766735416
|
0.00001
|
NM_000501.4(ELN):c.901C>G (p.Pro301Ala)
|
rs900409298
|
0.00001
|
NC_000007.13:g.(?_73442518)_(73475489_?)dup
|
|
|
NC_000007.13:g.(?_73442518)_(73483030_?)dup
|
|
|
NC_000007.13:g.(?_73477473)_(73478035_?)del
|
|
|
NC_000007.13:g.(?_73480004)_(73481126_?)del
|
|
|
NC_000007.14:g.74043883_74043897del
|
|
|
NM_000501.3(ELN):c.-70G>C
|
rs537200597
|
|
NM_000501.4(ELN):c.*102C>T
|
rs1464325009
|
|
NM_000501.4(ELN):c.*1062dup
|
rs574934142
|
|
NM_000501.4(ELN):c.*1145dup
|
rs886062436
|
|
NM_000501.4(ELN):c.*171C>T
|
rs781941957
|
|
NM_000501.4(ELN):c.*264C>A
|
rs1309771565
|
|
NM_000501.4(ELN):c.*358C>T
|
rs1489252176
|
|
NM_000501.4(ELN):c.*458C>T
|
rs886062431
|
|
NM_000501.4(ELN):c.*578T>C
|
rs1798608245
|
|
NM_000501.4(ELN):c.1021G>T (p.Val341Phe)
|
rs190758549
|
|
NM_000501.4(ELN):c.1024C>G (p.Pro342Ala)
|
|
|
NM_000501.4(ELN):c.1027G>A (p.Gly343Ser)
|
rs781939749
|
|
NM_000501.4(ELN):c.1028G>A (p.Gly343Asp)
|
|
|
NM_000501.4(ELN):c.1033G>A (p.Gly345Ser)
|
rs2131923109
|
|
NM_000501.4(ELN):c.1034_1087dup (p.Ala362_Ala363insGlyValProGlyAlaGlyIleProValValProGlyAlaGlyIleProGlyAla)
|
|
|
NM_000501.4(ELN):c.1036G>A (p.Val346Ile)
|
|
|
NM_000501.4(ELN):c.1054C>G (p.Pro352Ala)
|
|
|
NM_000501.4(ELN):c.1073_1087del (p.Gly358_Ala362del)
|
|
|
NM_000501.4(ELN):c.1084G>C (p.Ala362Pro)
|
|
|
NM_000501.4(ELN):c.1088C>T (p.Ala363Val)
|
|
|
NM_000501.4(ELN):c.1096+12TG[15]
|
|
|
NM_000501.4(ELN):c.1096+12TG[18]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[20]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[21]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[22]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[23]
|
|
|
NM_000501.4(ELN):c.1096+12TG[25]
|
|
|
NM_000501.4(ELN):c.1096+12TG[8]
|
rs10579871
|
|
NM_000501.4(ELN):c.1132G>A (p.Ala378Thr)
|
|
|
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)
|
rs781838239
|
|
NM_000501.4(ELN):c.1192G>T (p.Gly398Trp)
|
rs2229427
|
|
NM_000501.4(ELN):c.1205G>A (p.Gly402Glu)
|
|
|
NM_000501.4(ELN):c.1237G>A (p.Gly413Ser)
|
|
|
NM_000501.4(ELN):c.1238G>C (p.Gly413Ala)
|
|
|
NM_000501.4(ELN):c.1252G>C (p.Ala418Pro)
|
rs142438174
|
|
NM_000501.4(ELN):c.1264G>C (p.Gly422Arg)
|
rs2071307
|
|
NM_000501.4(ELN):c.1270G>A (p.Gly424Arg)
|
|
|
NM_000501.4(ELN):c.1274G>A (p.Gly425Asp)
|
rs1795231067
|
|
NM_000501.4(ELN):c.1283G>C (p.Gly428Ala)
|
rs1795235239
|
|
NM_000501.4(ELN):c.1292G>T (p.Gly431Val)
|
|
|
NM_000501.4(ELN):c.1298C>T (p.Pro433Leu)
|
|
|
NM_000501.4(ELN):c.1303G>A (p.Val435Ile)
|
|
|
NM_000501.4(ELN):c.1315+17_1315+18delinsTT
|
|
|
NM_000501.4(ELN):c.1315C>T (p.Pro439Ser)
|
|
|
NM_000501.4(ELN):c.1321G>A (p.Ala441Thr)
|
|
|
NM_000501.4(ELN):c.1324C>G (p.Gln442Glu)
|
|
|
NM_000501.4(ELN):c.133+10A>G
|
|
|
NM_000501.4(ELN):c.134-6C>G
|
rs368904789
|
|
NM_000501.4(ELN):c.134G>C (p.Gly45Ala)
|
|
|
NM_000501.4(ELN):c.1356C>T (p.Tyr452=)
|
|
|
NM_000501.4(ELN):c.1357+1G>A
|
|
|
NM_000501.4(ELN):c.1358-196G>A
|
|
|
NM_000501.4(ELN):c.1358-208G>A
|
|
|
NM_000501.4(ELN):c.1358-216C>A
|
|
|
NM_000501.4(ELN):c.1358-241G>A
|
rs1554680844
|
|
NM_000501.4(ELN):c.1358-244G>A
|
|
|
NM_000501.4(ELN):c.1358-261G>A
|
|
|
NM_000501.4(ELN):c.1358-30_1358-19del
|
|
|
NM_000501.4(ELN):c.1372G>A (p.Ala458Thr)
|
|
|
NM_000501.4(ELN):c.1373C>T (p.Ala458Val)
|
rs149117932
|
|
NM_000501.4(ELN):c.1378G>A (p.Ala460Thr)
|
|
|
NM_000501.4(ELN):c.1383_1394del (p.462AKAA[1])
|
|
|
NM_000501.4(ELN):c.1385C>A (p.Ala462Asp)
|
|
|
NM_000501.4(ELN):c.1396G>A (p.Ala466Thr)
|
|
|
NM_000501.4(ELN):c.1396_1407dup (p.Ala469_Gln470insAlaLysAlaAla)
|
|
|
NM_000501.4(ELN):c.1399A>G (p.Lys467Glu)
|
rs1583924554
|
|
NM_000501.4(ELN):c.1402G>A (p.Ala468Thr)
|
|
|
NM_000501.4(ELN):c.1405G>A (p.Ala469Thr)
|
|
|
NM_000501.4(ELN):c.140G>C (p.Gly47Ala)
|
rs1554665826
|
|
NM_000501.4(ELN):c.1432G>A (p.Gly478Ser)
|
|
|
NM_000501.4(ELN):c.1434_1469del (p.479VAPGVG[1])
|
|
|
NM_000501.4(ELN):c.1446_1463del (p.479VAPGVG[2])
|
rs1563852008
|
|
NM_000501.4(ELN):c.1451G>A (p.Gly484Asp)
|
|
|
NM_000501.4(ELN):c.1453_1488del (p.479VAPGVG[1])
|
rs782202364
|
|
NM_000501.4(ELN):c.1459C>A (p.Pro487Thr)
|
|
|
NM_000501.4(ELN):c.1469G>C (p.Gly490Ala)
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rs1554682884
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NM_000501.4(ELN):c.1484T>C (p.Val495Ala)
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NM_000501.4(ELN):c.1488_1523del (p.Leu497_Gly508del)
|
rs782284755
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NM_000501.4(ELN):c.14C>G (p.Thr5Arg)
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NM_000501.4(ELN):c.1507G>T (p.Val503Leu)
|
rs41523046
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NM_000501.4(ELN):c.1515_1550del (p.501VGVAPG[1])
|
rs782225994
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NM_000501.4(ELN):c.1518_1535dup (p.Gly518_Ile519insValGlyValAlaProGly)
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NM_000501.4(ELN):c.1528G>T (p.Ala510Ser)
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NM_000501.4(ELN):c.152T>C (p.Leu51Pro)
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NM_000501.4(ELN):c.1532C>T (p.Pro511Leu)
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NM_000501.4(ELN):c.1559G>A (p.Gly520Asp)
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NM_000501.4(ELN):c.155G>A (p.Gly52Glu)
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NM_000501.4(ELN):c.1564G>C (p.Gly522Arg)
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NM_000501.4(ELN):c.1573G>A (p.Ala525Thr)
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NM_000501.4(ELN):c.1576+6T>G
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NM_000501.4(ELN):c.158G>A (p.Gly53Glu)
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NM_000501.4(ELN):c.1591G>A (p.Ala531Thr)
|
rs137987089
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NM_000501.4(ELN):c.163+3G>A
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NM_000501.4(ELN):c.1648_1674del (p.Ile550_Gly558del)
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NM_000501.4(ELN):c.1670_1696del (p.Val557_Gly565del)
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NM_000501.4(ELN):c.1670_1696dup (p.Gly565_Ala566insValGlyValProGlyLeuGlyValGly)
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NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[3] (p.562LGVGAGVPG[3])
|
rs782739997
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NM_000501.4(ELN):c.1702G>A (p.Val568Ile)
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rs1554683612
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NM_000501.4(ELN):c.1723_1724delinsTG (p.Ala575Cys)
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NM_000501.4(ELN):c.1727G>T (p.Gly576Val)
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NM_000501.4(ELN):c.1745C>T (p.Ala582Val)
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NM_000501.4(ELN):c.1747+104A>G
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NM_000501.4(ELN):c.1747+105T>C
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rs536262259
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NM_000501.4(ELN):c.1747+15G>C
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NM_000501.4(ELN):c.1747+22G>A
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NM_000501.4(ELN):c.1747+71C>A
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NM_000501.4(ELN):c.1747+85C>T
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NM_000501.4(ELN):c.1747+93C>T
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NM_000501.4(ELN):c.1747+98G>A
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rs2132332281
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NM_000501.4(ELN):c.1748-18A>G
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NM_000501.4(ELN):c.1748-3C>T
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NM_000501.4(ELN):c.176G>T (p.Gly59Val)
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NM_000501.4(ELN):c.1781A>T (p.Lys594Ile)
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rs782679448
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NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)
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rs781963804
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NM_000501.4(ELN):c.1844C>T (p.Pro615Leu)
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NM_000501.4(ELN):c.1858G>C (p.Gly620Arg)
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rs727503034
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NM_000501.4(ELN):c.1870G>A (p.Ala624Thr)
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NM_000501.4(ELN):c.1878_1879insAAAGCTTTG (p.Ala626_Ala627insLysAlaLeu)
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rs1563868747
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NM_000501.4(ELN):c.1884_1886del (p.Ala630del)
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NM_000501.4(ELN):c.1885_1902dup (p.Ala629_Ala634dup)
|
rs1337161292
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NM_000501.4(ELN):c.1891A>G (p.Lys631Glu)
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NM_000501.4(ELN):c.1894G>T (p.Ala632Ser)
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NM_000501.4(ELN):c.1909G>T (p.Ala637Ser)
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rs536177240
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NM_000501.4(ELN):c.1921C>G (p.Leu641Val)
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NM_000501.4(ELN):c.1941C>A (p.Leu647=)
|
rs782117709
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NM_000501.4(ELN):c.1946G>A (p.Gly649Glu)
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rs200041224
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NM_000501.4(ELN):c.1946G>C (p.Gly649Ala)
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rs200041224
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NM_000501.4(ELN):c.1956_1970del (p.648GGLGV[1])
|
rs782015142
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NM_000501.4(ELN):c.1957G>A (p.Gly653Arg)
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NM_000501.4(ELN):c.196+5G>A
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NM_000501.4(ELN):c.1961G>A (p.Gly654Glu)
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NM_000501.4(ELN):c.197T>C (p.Val66Ala)
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NM_000501.4(ELN):c.1985G>C (p.Gly662Ala)
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NM_000501.4(ELN):c.1993+4A>G
|
rs781872334
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NM_000501.4(ELN):c.2014G>A (p.Ala672Thr)
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NM_000501.4(ELN):c.2031C>T (p.Tyr677=)
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NM_000501.4(ELN):c.2033G>A (p.Gly678Asp)
|
rs371321792
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NM_000501.4(ELN):c.205G>C (p.Gly69Arg)
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NM_000501.4(ELN):c.2068G>A (p.Gly690Arg)
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NM_000501.4(ELN):c.2086+4G>A
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NM_000501.4(ELN):c.2089G>A (p.Val697Met)
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NM_000501.4(ELN):c.208C>T (p.Leu70Phe)
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NM_000501.4(ELN):c.2104G>C (p.Gly702Arg)
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NM_000501.4(ELN):c.2109C>G (p.Phe703Leu)
|
rs149755814
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NM_000501.4(ELN):c.2114T>C (p.Leu705Ser)
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NM_000501.4(ELN):c.2128C>G (p.Pro710Ala)
|
rs368993919
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NM_000501.4(ELN):c.2131+1G>A
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NM_000501.4(ELN):c.2132-2A>G
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NM_000501.4(ELN):c.215G>T (p.Gly72Val)
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NM_000501.4(ELN):c.2162G>A (p.Arg721Gln)
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NM_000501.4(ELN):c.232G>A (p.Gly78Arg)
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NM_000501.4(ELN):c.238G>A (p.Gly80Ser)
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NM_000501.4(ELN):c.250G>A (p.Ala84Thr)
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NM_000501.4(ELN):c.250G>T (p.Ala84Ser)
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NM_000501.4(ELN):c.263C>T (p.Pro88Leu)
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NM_000501.4(ELN):c.26C>T (p.Pro9Leu)
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NM_000501.4(ELN):c.305C>G (p.Ala102Gly)
|
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NM_000501.4(ELN):c.328G>T (p.Ala110Ser)
|
rs137953195
|
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NM_000501.4(ELN):c.334C>T (p.Leu112Phe)
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NM_000501.4(ELN):c.338G>A (p.Gly113Asp)
|
rs531401757
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NM_000501.4(ELN):c.376+4C>T
|
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NM_000501.4(ELN):c.376+5G>A
|
rs782770862
|
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NM_000501.4(ELN):c.425C>A (p.Pro142Gln)
|
rs1013508230
|
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NM_000501.4(ELN):c.426G>A (p.Pro142=)
|
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NM_000501.4(ELN):c.427+4A>G
|
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NM_000501.4(ELN):c.446_457del (p.Val149_Gly152del)
|
rs1227487686
|
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NM_000501.4(ELN):c.469+3G>A
|
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NM_000501.4(ELN):c.469+5G>C
|
rs727503025
|
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NM_000501.4(ELN):c.469G>C (p.Gly157Arg)
|
rs1791850438
|
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NM_000501.4(ELN):c.482C>T (p.Pro161Leu)
|
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NM_000501.4(ELN):c.483C>A (p.Pro161=)
|
rs150690195
|
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NM_000501.4(ELN):c.484G>A (p.Gly162Ser)
|
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NM_000501.4(ELN):c.53T>G (p.Leu18Arg)
|
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NM_000501.4(ELN):c.548G>A (p.Gly183Asp)
|
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NM_000501.4(ELN):c.559G>A (p.Ala187Thr)
|
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NM_000501.4(ELN):c.581C>A (p.Pro194His)
|
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NM_000501.4(ELN):c.590G>A (p.Gly197Glu)
|
rs782698807
|
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NM_000501.4(ELN):c.592C>T (p.Pro198Ser)
|
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NM_000501.4(ELN):c.5C>T (p.Ala2Val)
|
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|
NM_000501.4(ELN):c.602G>C (p.Gly201Ala)
|
rs1792623793
|
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NM_000501.4(ELN):c.61C>T (p.Leu21Phe)
|
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|
NM_000501.4(ELN):c.635A>G (p.Lys212Arg)
|
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NM_000501.4(ELN):c.644G>A (p.Gly215Asp)
|
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NM_000501.4(ELN):c.671G>A (p.Gly224Glu)
|
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|
NM_000501.4(ELN):c.677T>G (p.Leu226Arg)
|
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NM_000501.4(ELN):c.691G>A (p.Gly231Arg)
|
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|
NM_000501.4(ELN):c.717G>T (p.Ala239=)
|
rs782502253
|
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NM_000501.4(ELN):c.741G>T (p.Gly247=)
|
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NM_000501.4(ELN):c.74G>A (p.Arg25Gln)
|
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NM_000501.4(ELN):c.762AGC[3] (p.Ala260del)
|
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NM_000501.4(ELN):c.762AGC[5] (p.Ala260dup)
|
rs782185396
|
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NM_000501.4(ELN):c.763G>A (p.Ala255Thr)
|
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NM_000501.4(ELN):c.799+6T>A
|
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NM_000501.4(ELN):c.79G>A (p.Gly27Arg)
|
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|
NM_000501.4(ELN):c.809_817del (p.Ala270_Gly272del)
|
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NM_000501.4(ELN):c.814G>A (p.Gly272Arg)
|
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|
NM_000501.4(ELN):c.851G>A (p.Gly284Asp)
|
rs1287098263
|
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NM_000501.4(ELN):c.851G>C (p.Gly284Ala)
|
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NM_000501.4(ELN):c.863C>T (p.Ala288Val)
|
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|
NM_000501.4(ELN):c.889+6A>G
|
|
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NM_000501.4(ELN):c.889G>A (p.Gly297Ser)
|
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NM_000501.4(ELN):c.889G>T (p.Gly297Cys)
|
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NM_000501.4(ELN):c.890-14G>A
|
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NM_000501.4(ELN):c.906TGCAGC[1] (p.Ala308_Ala311del)
|
rs782133793
|
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NM_000501.4(ELN):c.906TGCAGC[4] (p.Ala311_Lys312insAlaAla)
|
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NM_000501.4(ELN):c.911C>G (p.Ala304Gly)
|
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|
NM_000501.4(ELN):c.913G>A (p.Ala305Thr)
|
rs1060503513
|
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NM_000501.4(ELN):c.917C>T (p.Ala306Val)
|
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|
NM_000501.4(ELN):c.949+5G>A
|
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|
NM_000501.4(ELN):c.949+6T>C
|
rs1794154462
|
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